ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Illumina Laboratory Services, Illumina and "likely benign" from any submitter

Minimum review status of the submission from Illumina Laboratory Services, Illumina: Collection method of the submission from Illumina Laboratory Services, Illumina:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8297
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=) rs7868941 0.16167
NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=) rs534165083 0.12965
NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=) rs62637566 0.12851
NM_213599.3(ANO5):c.*554C>T rs117180492 0.02476
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=) rs80338869 0.02054
NM_213599.3(ANO5):c.*3168C>T rs35892535 0.01843
NM_144508.5(KNL1):c.2369C>G (p.Thr790Ser) rs33931006 0.01841
NM_001130987.2(DYSF):c.*53G>A rs114777968 0.01775
NM_213599.3(ANO5):c.2259A>G (p.Ser753=) rs61746201 0.01772
NM_017755.5(NSUN2):c.-193G>C rs8192123 0.01707
NM_017755.5(NSUN2):c.-340C>T rs147269098 0.01704
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939 0.01642
NM_213599.3(ANO5):c.*2095G>A rs142192440 0.01610
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) rs61749202 0.01463
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_000520.5(HEXA):c.-167G>A rs77707876 0.01456
NM_000230.3(LEP):c.*34G>A rs28954114 0.01449
NM_017755.5(NSUN2):c.-189C>A rs8192122 0.01396
NM_213599.3(ANO5):c.*3155T>C rs78929863 0.01340
NM_016203.3(PRKAG2):c.-520C>T rs73160072 0.01266
NM_213599.3(ANO5):c.*1328C>T rs78089375 0.01250
NM_213599.3(ANO5):c.-261A>C rs114897158 0.01250
NM_213599.3(ANO5):c.*1661C>T rs12284506 0.01249
NM_000070.3(CAPN3):c.-104G>C rs149698681 0.01241
NM_018082.5(POLR3B):c.-173C>T rs73186443 0.01232
NM_000112.4(SLC26A2):c.*4799G>A rs72832119 0.01211
NM_213599.3(ANO5):c.*930C>T rs78428314 0.01204
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744 0.01194
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364 0.01193
NM_002693.3(POLG):c.3644-99C>T rs3176241 0.01180
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_000232.5(SGCB):c.*1105A>G rs77404139 0.01061
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_001160372.4(TRAPPC9):c.1869C>T (p.Ser623=) rs117685875 0.01001
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434 0.00997
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595 0.00992
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930 0.00987
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472 0.00986
NM_000112.4(SLC26A2):c.*4930C>T rs79521091 0.00981
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397 0.00978
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln) rs79251326 0.00978
NM_000232.5(SGCB):c.*724C>T rs79282232 0.00971
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala) rs35007621 0.00961
NM_033100.4(CDHR1):c.240C>T (p.Val80=) rs11593005 0.00943
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr) rs11807956 0.00940
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146 0.00913
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_004278.4(PIGL):c.*254T>C rs144070256 0.00867
NM_000243.3(MEFV):c.2118G>A (p.Pro706=) rs2234939 0.00864
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_001042432.2(CLN3):c.*99C>T rs113845299 0.00853
NM_001160372.4(TRAPPC9):c.1458C>T (p.Phe486=) rs34179337 0.00827
NM_001457.4(FLNB):c.3724+13_3724+15del rs773897420 0.00809
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406 0.00792
NM_000350.3(ABCA4):c.3831G>A (p.Thr1277=) rs75092434 0.00783
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878 0.00781
NM_000037.4(ANK1):c.*1708G>C rs182454354 0.00775
NM_016239.4(MYO15A):c.2680C>T (p.Pro894Ser) rs76707172 0.00765
NM_005138.3(SCO2):c.763C>A (p.Arg255=) rs112793292 0.00755
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197 0.00751
NM_022356.4(P3H1):c.611C>A (p.Pro204His) rs77208721 0.00751
NM_000231.3(SGCG):c.-6T>C rs141771521 0.00749
NM_001130987.2(DYSF):c.1380+6G>C rs75796187 0.00745
NM_020247.5(COQ8A):c.*349G>A rs113041399 0.00729
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=) rs9657022 0.00726
NM_213599.3(ANO5):c.*3350T>G rs144806967 0.00723
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His) rs183531840 0.00717
NM_213599.3(ANO5):c.*2357A>T rs151218419 0.00715
NM_001130987.2(DYSF):c.*107T>A rs11903223 0.00707
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro) rs61326562 0.00706
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919 0.00690
NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn) rs45522236 0.00677
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln) rs41281338 0.00677
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324 0.00669
NM_001384474.1(LOXHD1):c.611-15T>C rs146912450 0.00662
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_020247.5(COQ8A):c.*727C>T rs16846762 0.00659
NM_000019.4(ACAT1):c.941-14C>T rs12801620 0.00658
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076 0.00658
NM_018451.5(CENPJ):c.*594_*595dup rs570468323 0.00658
NM_022124.6(CDH23):c.8980-14C>A rs45522532 0.00642
NM_001160372.4(TRAPPC9):c.2797G>A (p.Gly933Ser) rs114949291 0.00641
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274 0.00631
NM_001206744.2(TPO):c.2305C>T (p.Arg769Trp) rs114406277 0.00629
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_001130987.2(DYSF):c.*267C>G rs181677134 0.00625
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys) rs115232898 0.00622
NM_001114134.2(EPB42):c.1767C>A (p.His589Gln) rs114354377 0.00619
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_000081.4(LYST):c.10941-7C>A rs72761794 0.00614
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) rs12720445 0.00612
NM_213599.3(ANO5):c.*2869A>G rs115249135 0.00608
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895 0.00606
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831 0.00600
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_001195248.2(APTX):c.*187G>C rs113638548 0.00570
NM_001195248.2(APTX):c.*606G>A rs111430445 0.00567
NM_015272.5(RPGRIP1L):c.*491C>G rs35669682 0.00564
NM_015192.4(PLCB1):c.2309-15A>C rs117816042 0.00563
NM_014363.6(SACS):c.6051G>C (p.Lys2017Asn) rs35865691 0.00562
NM_000515.5(GH1):c.406G>A (p.Val136Ile) rs5388 0.00560
NM_006493.4(CLN5):c.*180C>T rs700364 0.00556
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866 0.00549
NM_017875.4(SLC25A38):c.*431G>A rs73058292 0.00540
NM_000439.5(PCSK1):c.397-10T>C rs142423997 0.00535
NM_015272.5(RPGRIP1L):c.*1627G>A rs188203905 0.00522
NM_006996.3(SLC19A2):c.-114C>T rs145285893 0.00519
NM_003748.4(ALDH4A1):c.678+3G>A rs138788183 0.00516
NM_014363.6(SACS):c.1593C>T (p.Ile531=) rs113756713 0.00513
NM_001160372.4(TRAPPC9):c.3163G>A (p.Val1055Ile) rs35578974 0.00512
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=) rs112463030 0.00507
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_001113378.2(FANCI):c.976-13A>T rs145864790 0.00501
NM_001160372.4(TRAPPC9):c.3249C>T (p.Phe1083=) rs112551069 0.00501
NM_001360.3(DHCR7):c.99-10G>A rs189549129 0.00495
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_000520.5(HEXA):c.-59G>A rs147174351 0.00489
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr) rs79544660 0.00488
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750 0.00488
NM_000232.5(SGCB):c.*2907T>C rs138349341 0.00486
NM_004278.4(PIGL):c.424C>A (p.Leu142Met) rs115958467 0.00486
NM_017739.4(POMGNT1):c.-11G>A rs80107141 0.00484
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856 0.00479
NM_001130987.2(DYSF):c.2980-15C>T rs148732505 0.00477
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met) rs587784372 0.00471
NM_000037.4(ANK1):c.3399C>T (p.Thr1133=) rs117516263 0.00465
NM_002693.3(POLG):c.3198G>A (p.Thr1066=) rs61752780 0.00460
NM_000243.3(MEFV):c.1760-4G>A rs79662406 0.00459
NM_013342.4(TFPT):c.-350G>T rs45619231 0.00456
NM_017636.4(TRPM4):c.755G>A (p.Arg252His) rs146564314 0.00453
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127 0.00451
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_000350.3(ABCA4):c.*136G>A rs55665437 0.00448
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509 0.00448
NM_000231.3(SGCG):c.*185G>A rs115918628 0.00447
NM_213599.3(ANO5):c.*166G>T rs145219772 0.00444
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000081.4(LYST):c.10800+4G>T rs41308172 0.00441
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_000520.6(HEXA):c.673-13T>C rs75211071 0.00438
NM_001134363.3(RBM20):c.2655+15A>G rs187915202 0.00436
NM_002693.3(POLG):c.-80C>T rs3087378 0.00435
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00435
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_001164508.2(NEB):c.19455G>A (p.Lys6485=) rs182847302 0.00430
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010 0.00428
NM_007374.3(SIX6):c.385G>A (p.Glu129Lys) rs146737847 0.00428
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_022124.6(CDH23):c.*361C>A rs115033851 0.00420
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) rs147756847 0.00416
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379 0.00408
NM_000037.4(ANK1):c.1506C>T (p.Ala502=) rs34387324 0.00407
NM_012179.4(FBXO7):c.122+9G>A rs192327462 0.00407
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln) rs35669708 0.00406
NM_018238.3(AGK):c.-100G>A rs552726046 0.00401
NM_000214.3(JAG1):c.-384T>G rs559044448 0.00399
NM_004076.5(CRYBB3):c.38C>G (p.Ala13Gly) rs147831812 0.00394
NM_019040.5(ELP4):c.*2740G>A rs149777109 0.00394
NM_001134363.3(RBM20):c.1275+13A>G rs373230569 0.00392
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240 0.00391
NM_018389.5(SLC35C1):c.1054C>T (p.Pro352Ser) rs145613857 0.00391
NM_001122659.3(EDNRB):c.*296A>G rs12720203 0.00388
NM_018368.3(LMBRD1):c.-276A>G rs148064952 0.00387
NM_022124.6(CDH23):c.*515C>A rs16929375 0.00385
NM_000130.5(F5):c.4035A>G (p.Gln1345=) rs886045547 0.00377
NM_006996.3(SLC19A2):c.561G>T (p.Leu187=) rs150548640 0.00374
NM_017739.4(POMGNT1):c.*221G>A rs181362801 0.00374
NM_000430.4(PAFAH1B1):c.*1042_*1043del rs55976318 0.00373
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp) rs201472270 0.00373
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583 0.00372
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932 0.00371
NM_000243.3(MEFV):c.42G>A (p.Glu14=) rs113314808 0.00369
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro) rs35810926 0.00369
NM_033337.3(CAV3):c.*805C>A rs186579720 0.00369
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys) rs79045813 0.00367
NM_006996.2(SLC19A2):c.-196C>A rs72542444 0.00366
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020 0.00366
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679 0.00362
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn) rs141932807 0.00362
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923 0.00359
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys) rs146569520 0.00359
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_004004.6(GJB2):c.-6T>A rs148136545 0.00355
NM_001379180.1(ESRRB):c.*1474T>C rs188462546 0.00354
NM_001384474.1(LOXHD1):c.1708G>A (p.Asp570Asn) rs140437150 0.00354
NM_000525.4(KCNJ11):c.-498T>C rs529946415 0.00352
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_000519.4(HBD):c.*102G>A rs80018520 0.00351
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=) rs147258619 0.00349
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_014363.6(SACS):c.171+13C>T rs374672041 0.00347
NM_022124.6(CDH23):c.2954-14G>A rs191534381 0.00347
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_000243.3(MEFV):c.1467G>A (p.Gln489=) rs61732424 0.00341
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00340
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) rs116204385 0.00336
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg) rs144180493 0.00336
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316 0.00334
NM_001164508.2(NEB):c.22122C>G (p.Asp7374Glu) rs192402741 0.00334
NM_181426.2(CCDC39):c.1073C>T (p.Thr358Ile) rs183413880 0.00334
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193 0.00333
NM_018249.6(CDK5RAP2):c.2655C>G (p.Phe885Leu) rs112600265 0.00333
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00332
NM_001355436.2(SPTB):c.345T>C (p.Asn115=) rs17180518 0.00330
NM_000218.3(KCNQ1):c.*717T>G rs189162344 0.00329
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_198904.4(GABRG2):c.*348A>G rs192973258 0.00328
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_000350.3(ABCA4):c.4352+14C>T rs75359153 0.00325
NM_007374.3(SIX6):c.614T>G (p.Leu205Arg) rs45549246 0.00324
NM_017668.3(NDE1):c.*286G>A rs558625464 0.00322
NM_023036.6(DNAI2):c.468-4G>T rs146462823 0.00321
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00316
NM_001042432.2(CLN3):c.-129G>C rs141305257 0.00315
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met) rs73003348 0.00315
NM_000053.4(ATP7B):c.3557-6C>T rs140708492 0.00314
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_001065.4(TNFRSF1A):c.-96C>T rs115164694 0.00312
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598 0.00312
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val) rs34165480 0.00311
NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu) rs150391806 0.00310
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_001182.4(ALDH7A1):c.-80T>G rs563928852 0.00308
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=) rs72657304 0.00308
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=) rs11840224 0.00305
NM_019040.5(ELP4):c.*3242G>A rs187705792 0.00303
NM_000275.3(OCA2):c.1744C>T (p.Leu582=) rs61751032 0.00302
NM_018122.5(DARS2):c.128-4A>T rs769597479 0.00300
NM_002615.7(SERPINF1):c.85-14C>T rs200755661 0.00299
NM_207352.4(CYP4V2):c.610G>A (p.Ala204Thr) rs61745524 0.00299
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser) rs45576136 0.00296
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_000487.6(ARSA):c.466-7G>C rs6151414 0.00294
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00293
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00292
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=) rs79327004 0.00290
NM_001558.4(IL10RA):c.67+8T>C rs200992970 0.00290
NM_003227.4(TFR2):c.1473G>A (p.Glu491=) rs139178017 0.00289
NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met) rs140317484 0.00287
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys) rs45594632 0.00285
NM_001160372.4(TRAPPC9):c.588T>C (p.His196=) rs61736350 0.00284
NM_000518.5(HBB):c.*96T>C rs34029390 0.00283
NM_012179.4(FBXO7):c.693C>T (p.Ser231=) rs61752254 0.00283
NM_007078.3(LDB3):c.-23-32C>A rs34972863 0.00282
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957 0.00280
NM_000426.4(LAMA2):c.5633C>T (p.Ser1878Phe) rs139586720 0.00279
NM_020366.4(RPGRIP1):c.218+13C>G rs200225522 0.00279
NM_020533.3(MCOLN1):c.16G>T (p.Gly6Cys) rs61736595 0.00279
NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala) rs144236383 0.00278
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00278
NM_018249.6(CDK5RAP2):c.5355G>A (p.Thr1785=) rs145402135 0.00277
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys) rs34702903 0.00276
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg) rs78488552 0.00276
NM_000277.3(PAH):c.772C>T (p.Leu258=) rs75065106 0.00272
NM_003465.3(CHIT1):c.585C>T (p.Tyr195=) rs114168492 0.00272
NM_001395413.1(POR):c.674C>T (p.Pro225Leu) rs17853284 0.00271
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939 0.00270
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845 0.00269
NM_001358530.2(MOCS1):c.124-69G>A rs45487695 0.00266
NM_000343.4(SLC5A1):c.625G>T (p.Val209Leu) rs150117594 0.00264
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_013435.3(RAX):c.197G>C (p.Arg66Thr) rs536765190 0.00260
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036 0.00257
NM_002303.6(LEPR):c.3417A>G (p.Ala1139=) rs61781316 0.00257
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser) rs138824667 0.00256
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr) rs202233363 0.00255
NM_000018.4(ACADVL):c.1839G>A (p.Arg613=) rs79125791 0.00254
NM_001369.3(DNAH5):c.7752+10T>C rs149460805 0.00253
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_015046.7(SETX):c.*254C>T rs11545230 0.00252
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe) rs115198029 0.00250
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_001360.3(DHCR7):c.399C>T (p.Ala133=) rs147424205 0.00248
NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu) rs143827025 0.00248
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369 0.00248
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00246
NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=) rs151287975 0.00246
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala) rs201709592 0.00245
NM_144508.5(KNL1):c.1233G>C (p.Met411Ile) rs116093409 0.00245
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_000350.3(ABCA4):c.1653G>A (p.Val551=) rs61753963 0.00243
NM_000543.5(SMPD1):c.441G>A (p.Val147=) rs148944108 0.00241
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957 0.00240
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=) rs199821105 0.00240
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974 0.00240
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys) rs145310298 0.00238
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577 0.00237
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968 0.00237
NM_000426.4(LAMA2):c.4959+6G>T rs148060790 0.00236
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=) rs201683984 0.00236
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=) rs35654397 0.00236
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=) rs116985497 0.00235
NM_152783.5(D2HGDH):c.1258G>A (p.Ala420Thr) rs149504235 0.00235
NM_000394.4(CRYAA):c.154C>T (p.Leu52Phe) rs146914780 0.00234
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633 0.00234
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
NM_153603.4(COG7):c.1178A>G (p.His393Arg) rs116331296 0.00233
NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys) rs113817924 0.00232
NM_000126.4(ETFA):c.186+7A>G rs184587113 0.00231
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855 0.00231
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_001363.4(DKC1):c.-142C>G rs199422241 0.00229
NM_032193.4(RNASEH2C):c.417C>G (p.Gly139=) rs147021687 0.00229
NM_053025.4(MYLK):c.24C>G (p.Ala8=) rs78118111 0.00229
NM_001369.3(DNAH5):c.624C>T (p.Asn208=) rs139640247 0.00228
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608 0.00227
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr) rs189186475 0.00227
NM_001845.6(COL4A1):c.-103G>A rs538721412 0.00227
NM_014339.7(IL17RA):c.1530C>T (p.Asp510=) rs148319877 0.00227
NM_014855.3(AP5Z1):c.366+5C>T rs143800095 0.00227
NM_012092.4(ICOS):c.451G>C (p.Val151Leu) rs76778263 0.00226
NM_182894.3(VSX2):c.162C>A (p.Asp54Glu) rs61747367 0.00226
NM_001114134.2(EPB42):c.894C>T (p.Thr298=) rs35719500 0.00225
NM_001374736.1(DST):c.2256A>T (p.Ser752=) rs113432929 0.00225
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val) rs142586585 0.00225
NM_000016.6(ACADM):c.469-9A>G rs181322317 0.00223
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200 0.00222
NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys) rs141191319 0.00222
NM_001160372.4(TRAPPC9):c.3291C>T (p.Ser1097=) rs148857575 0.00222
NM_001355436.2(SPTB):c.1896A>G (p.Gln632=) rs74056006 0.00222
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) rs558064127 0.00220
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821 0.00218
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=) rs202043044 0.00218
NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln) rs34682727 0.00218
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00217
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946 0.00216
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_213599.3(ANO5):c.*1712T>C rs530413127 0.00216
NM_000170.3(GLDC):c.2487C>T (p.Ala829=) rs141806715 0.00213
NM_000492.4(CFTR):c.2620-15C>G rs139379077 0.00212
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307 0.00212
NM_001277115.2(DNAH11):c.13076G>A (p.Arg4359Gln) rs113653972 0.00212
NM_001377.3(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556 0.00212
NM_153006.3(NAGS):c.1281C>G (p.Ala427=) rs371886833 0.00210
NM_172364.5(CACNA2D4):c.3356C>T (p.Pro1119Leu) rs145150489 0.00210
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555 0.00209
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_000170.3(GLDC):c.1156-7C>G rs150095531 0.00208
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_006493.4(CLN5):c.-99G>C rs202118652 0.00208
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=) rs3219160 0.00208
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_000426.4(LAMA2):c.411G>A (p.Ala137=) rs149347601 0.00206
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser) rs139738333 0.00205
NM_001114134.2(EPB42):c.453T>C (p.Asn151=) rs114136713 0.00205
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=) rs139317762 0.00203
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319 0.00203
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=) rs114827737 0.00203
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) rs138232538 0.00202
NM_052945.4(TNFRSF13C):c.317G>A (p.Arg106Gln) rs150374940 0.00202
NM_000243.3(MEFV):c.1173T>C (p.Asp391=) rs146077729 0.00201
NM_001142800.2(EYS):c.-337T>A rs145321084 0.00201
NM_006096.4(NDRG1):c.331A>C (p.Met111Leu) rs2233328 0.00201
NM_006348.5(COG5):c.790T>A (p.Leu264Ile) rs142276972 0.00201
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met) rs191971593 0.00201
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621 0.00200
NM_002408.4(MGAT2):c.229C>T (p.Pro77Ser) rs145684106 0.00200
NM_012073.5(CCT5):c.331+14A>T rs201171003 0.00199
NM_005327.7(HADH):c.643C>A (p.Pro215Thr) rs140413151 0.00198
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_001040108.2(MLH3):c.2425A>G (p.Met809Val) rs61752722 0.00197
NM_001355436.2(SPTB):c.5052C>T (p.Arg1684=) rs229593 0.00197
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498 0.00197
NM_003748.4(ALDH4A1):c.244G>A (p.Val82Met) rs76762510 0.00197
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_024426.6(WT1):c.309C>A (p.Gly103=) rs547333427 0.00197
NM_002454.3(MTRR):c.1982A>G (p.His661Arg) rs148909799 0.00196
NM_004525.3(LRP2):c.6850A>G (p.Thr2284Ala) rs35413340 0.00196
NM_024996.7(GFM1):c.2190C>T (p.Asp730=) rs149049400 0.00196
NM_000070.3(CAPN3):c.2264-11C>T rs28364537 0.00195
NM_005327.7(HADH):c.456G>T (p.Gln152His) rs1051519 0.00195
NM_000349.3(STAR):c.361C>T (p.Arg121Trp) rs34908868 0.00193
NM_006261.5(PROP1):c.425C>T (p.Ala142Val) rs143790367 0.00193
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443 0.00192
NM_002303.6(LEPR):c.371A>G (p.Asp124Gly) rs35573508 0.00192
NM_015627.3(LDLRAP1):c.672C>T (p.Ser224=) rs41291054 0.00191
NM_018475.5(TMEM165):c.294C>T (p.Val98=) rs11542641 0.00191
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302 0.00190
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) rs146462407 0.00190
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255 0.00190
NM_000096.4(CP):c.2571C>T (p.Tyr857=) rs151304828 0.00189
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060 0.00189
NM_001360.3(DHCR7):c.321+10C>T rs377108406 0.00189
NM_005609.4(PYGM):c.330C>T (p.Asp110=) rs114742918 0.00189
NM_019040.5(ELP4):c.*3904G>A rs3026397 0.00189
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591 0.00188
NM_000027.4(AGA):c.623-7C>T rs201125635 0.00188
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr) rs200775946 0.00187
NM_052859.4(RFT1):c.5G>A (p.Gly2Asp) rs185366134 0.00187
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=) rs61748519 0.00185
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874 0.00185
NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=) rs201519016 0.00185
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941 0.00185
NM_000135.4(FANCA):c.694A>C (p.Arg232=) rs61757384 0.00184
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007 0.00183
NM_000350.3(ABCA4):c.2588-12C>G rs61751396 0.00183
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=) rs147884766 0.00183
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255 0.00183
NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=) rs185667326 0.00183
NM_032520.5(GNPTG):c.741+5C>T rs201263537 0.00183
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His) rs201979610 0.00182
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val) rs142025324 0.00182
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233 0.00182
NM_022124.6(CDH23):c.*68G>C rs527311705 0.00182
NM_002618.4(PEX13):c.355G>A (p.Val119Ile) rs147707348 0.00181
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638 0.00181
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys) rs138731505 0.00180
NM_000349.3(STAR):c.687G>A (p.Pro229=) rs35852516 0.00180
NM_000787.4(DBH):c.1444G>A (p.Gly482Arg) rs41316996 0.00180
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233 0.00180
NM_001918.5(DBT):c.753C>T (p.Asp251=) rs79292123 0.00179
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024 0.00178
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val) rs144215383 0.00178
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile) rs143142227 0.00178
NM_006371.5(CRTAP):c.732C>T (p.Leu244=) rs149119710 0.00178
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=) rs2234473 0.00178
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349 0.00178
NM_001164508.2(NEB):c.22800+9A>G rs144303545 0.00177
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser) rs143602832 0.00177
NM_016239.4(MYO15A):c.9754A>G (p.Asn3252Asp) rs147458358 0.00177
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_000275.3(OCA2):c.1560C>A (p.Leu520=) rs140932222 0.00176
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn) rs144486825 0.00176
NM_001355436.2(SPTB):c.5463C>T (p.Pro1821=) rs114513294 0.00176
NM_001375808.2(LPIN2):c.-10+1381T>C rs566304730 0.00176
NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu) rs116424900 0.00176
NM_022124.6(CDH23):c.6713-8G>A rs369946986 0.00176
NM_152783.5(D2HGDH):c.423C>T (p.Pro141=) rs142473303 0.00176
NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly) rs141363186 0.00175
NM_004629.2(FANCG):c.1638T>C (p.Gly546=) rs45537335 0.00175
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186 0.00175
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala) rs61754030 0.00174
NM_001875.5(CPS1):c.783C>T (p.Ile261=) rs142468138 0.00174
NM_004970.3(IGFALS):c.1436G>A (p.Gly479Asp) rs182305760 0.00174
NM_000349.3(STAR):c.141G>A (p.Thr47=) rs147318238 0.00173
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met) rs117422805 0.00173
NM_000426.4(LAMA2):c.6279C>T (p.Ala2093=) rs141190803 0.00173
NM_000520.6(HEXA):c.346+13C>T rs200871198 0.00173
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=) rs113994614 0.00173
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747 0.00172
NM_000834.5(GRIN2B):c.*1230G>C rs151270374 0.00172
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg) rs61736380 0.00172
NM_006348.5(COG5):c.50G>T (p.Gly17Val) rs139763861 0.00172
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_001256545.2(MEGF10):c.3216G>C (p.Arg1072Ser) rs75783175 0.00171
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294 0.00171
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224 0.00171
NM_022132.5(MCCC2):c.1217-7C>G rs148369119 0.00171
NM_000037.4(ANK1):c.2830G>A (p.Ala944Thr) rs35797405 0.00170
NM_014363.6(SACS):c.2988A>G (p.Leu996=) rs111846884 0.00170
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=) rs56077602 0.00169
NM_003859.3(DPM1):c.40C>T (p.Arg14Trp) rs117175017 0.00169
NM_022041.4(GAN):c.1445C>T (p.Ala482Val) rs146576740 0.00169
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu) rs148293985 0.00169
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123 0.00168
NM_198506.5(LRIT3):c.1455C>T (p.Ala485=) rs149304853 0.00168
NM_033100.4(CDHR1):c.1071C>T (p.Ser357=) rs146588811 0.00167
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=) rs147947402 0.00167
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
NM_033100.4(CDHR1):c.526-7C>G rs190906755 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000293.3(PHKB):c.574A>G (p.Ile192Val) rs117218785 0.00165
NM_000426.4(LAMA2):c.1308T>G (p.Gly436=) rs41285286 0.00165
NM_000426.4(LAMA2):c.7640G>A (p.Gly2547Glu) rs115488979 0.00165
NM_020919.4(ALS2):c.1816-8C>T rs185911369 0.00165
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_000135.4(FANCA):c.1471-12A>G rs9282684 0.00163
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006 0.00163
NM_001277115.2(DNAH11):c.8533C>G (p.Arg2845Gly) rs121908854 0.00163
NM_013435.3(RAX):c.290-4C>A rs200338566 0.00163
NM_080911.3(UNG):c.533+6G>A rs55812333 0.00163
NM_201548.5(CERKL):c.820+9G>A rs189638090 0.00163
NM_000071.3(CBS):c.1059G>A (p.Thr353=) rs61735859 0.00162
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_032409.3(PINK1):c.165G>A (p.Glu55=) rs537679886 0.00162
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile) rs149871493 0.00162
NM_000152.5(GAA):c.-312C>T rs574326920 0.00161
NM_001370298.3(FGD4):c.666A>T (p.Ala222=) rs139357821 0.00161
NM_001089.3(ABCA3):c.2268C>T (p.Ala756=) rs143552557 0.00160
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met) rs145988230 0.00160
NM_024079.5(ALG8):c.96-6G>C rs199911532 0.00160
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys) rs112237881 0.00159
NM_001358530.2(MOCS1):c.1064T>C (p.Ile355Thr) rs143912353 0.00159
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu) rs4150319 0.00158
NM_001164688.2(RD3):c.494A>C (p.Asp165Ala) rs149051185 0.00158
NM_000466.3(PEX1):c.130-9T>C rs377337949 0.00157
NM_030787.4(CFHR5):c.622T>C (p.Cys208Arg) rs41299613 0.00157
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599 0.00156
NM_020800.3(IFT80):c.897G>A (p.Val299=) rs145776235 0.00156
NM_022098.4(XPNPEP3):c.590-8A>G rs143719656 0.00156
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515 0.00155
NM_000466.3(PEX1):c.1011G>A (p.Lys337=) rs142018583 0.00155
NM_000529.2(MC2R):c.318C>T (p.Ile106=) rs147706299 0.00155
NM_001355436.2(SPTB):c.807T>C (p.Tyr269=) rs115882528 0.00155
NM_002474.3(MYH11):c.2961C>T (p.Ile987=) rs137988790 0.00155
NM_004004.6(GJB2):c.*3C>A rs111033460 0.00155
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr) rs138138436 0.00155
NM_177965.4(CFAP418):c.528A>G (p.Thr176=) rs143748636 0.00155
NM_138711.6(PPARG):c.150C>T (p.Asp50=) rs112174008 0.00154
NM_000294.3(PHKG2):c.393G>A (p.Arg131=) rs55751949 0.00153
NM_000527.5(LDLR):c.498C>T (p.Ala166=) rs10417394 0.00153
NM_025137.4(SPG11):c.4744-6T>C rs147550048 0.00153
NM_133259.4(LRPPRC):c.3148+12C>T rs199684766 0.00153
NM_000687.4(AHCY):c.853C>T (p.Arg285Trp) rs116846245 0.00152
NM_001374736.1(DST):c.2350C>G (p.Pro784Ala) rs151271595 0.00152
NM_005591.4(MRE11):c.822T>C (p.Leu274=) rs137868143 0.00152
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr) rs147494464 0.00152
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp) rs149447502 0.00151
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) rs185594460 0.00151
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904 0.00151
NM_001160372.4(TRAPPC9):c.1407C>T (p.Tyr469=) rs117632905 0.00151
NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=) rs145704211 0.00151
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln) rs34523608 0.00150
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00150
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564 0.00150
NM_000426.4(LAMA2):c.8728G>A (p.Val2910Ile) rs141479751 0.00150
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256 0.00150
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688 0.00150
NM_006446.5(SLCO1B1):c.1332-14T>C rs71581991 0.00150
NM_018249.6(CDK5RAP2):c.2568G>A (p.Gln856=) rs144723485 0.00150
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755 0.00150
NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln) rs145726393 0.00150
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_000359.3(TGM1):c.61A>G (p.Thr21Ala) rs140542428 0.00149
NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys) rs201060702 0.00149
NM_014363.6(SACS):c.810T>G (p.Phe270Leu) rs116907814 0.00149
NM_000073.3(CD3G):c.158T>C (p.Ile53Thr) rs142915569 0.00148
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro) rs138443479 0.00148
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_000355.4(TCN2):c.138C>T (p.Ser46=) rs143250551 0.00148
NM_001130987.2(DYSF):c.2409+14G>A rs141170955 0.00148
NM_003865.2(HESX1):c.-276T>G rs983243 0.00148
NM_005142.3(CBLIF):c.154T>A (p.Tyr52Asn) rs144916324 0.00148
NM_005566.4(LDHA):c.439G>T (p.Ala147Ser) rs116841148 0.00148
NM_000426.4(LAMA2):c.1782+14T>C rs191215452 0.00147
NM_000426.4(LAMA2):c.74C>T (p.Pro25Leu) rs145310035 0.00147
NM_001298.3(CNGA3):c.198C>T (p.Thr66=) rs139544302 0.00147
NM_194318.4(B3GLCT):c.1371A>G (p.Gln457=) rs114941150 0.00147
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367 0.00146
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn) rs141553756 0.00146
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587 0.00146
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
NM_206933.4(USH2A):c.486-15C>T rs114194722 0.00146
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln) rs147415774 0.00145
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=) rs185574478 0.00145
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=) rs141787212 0.00145
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile) rs147851214 0.00145
NM_000436.4(OXCT1):c.1491C>T (p.Asp497=) rs144283422 0.00143
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878 0.00143
NM_201253.3(CRB1):c.2307C>T (p.Arg769=) rs151104285 0.00143
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976 0.00142
NM_006348.5(COG5):c.1776T>C (p.Ala592=) rs142970891 0.00142
NM_006949.4(STXBP2):c.1455C>T (p.Asp485=) rs146425381 0.00142
NM_021728.4(OTX2):c.-119-101C>T rs534764707 0.00142
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_000130.5(F5):c.2222A>G (p.Asn741Ser) rs144979314 0.00140
NM_000130.5(F5):c.4589A>C (p.Glu1530Ala) rs6007 0.00140
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu) rs147493628 0.00140
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=) rs190336010 0.00140
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) rs193224180 0.00140
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg) rs753664726 0.00140
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) rs200466720 0.00140
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462 0.00140
NM_080911.3(UNG):c.246G>C (p.Leu82=) rs144083363 0.00140
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser) rs41273722 0.00140
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) rs143002265 0.00139
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys) rs145062583 0.00139
NM_000601.6(HGF):c.137C>T (p.Ala46Val) rs150267054 0.00139
NM_001369.3(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124 0.00139
NM_016169.4(SUFU):c.910+14C>T rs202247757 0.00139
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144 0.00138
NM_000506.3(F2):c.598G>A (p.Glu200Lys) rs62623459 0.00138
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser) rs199784029 0.00138
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521 0.00138
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=) rs370616818 0.00138
NM_002408.4(MGAT2):c.99G>T (p.Lys33Asn) rs140584714 0.00138
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe) rs35984312 0.00138
NM_005198.5(CHKB):c.457T>C (p.Leu153=) rs146693439 0.00138
NM_017668.3(NDE1):c.948-2772T>C rs143288748 0.00138
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu) rs150248985 0.00138
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_000151.4(G6PC1):c.-45G>A rs367816430 0.00137
NM_001040436.3(YARS2):c.*126_*127del rs141873255 0.00137
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958 0.00137
NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp) rs141433824 0.00137
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys) rs200714434 0.00136
NM_001160372.4(TRAPPC9):c.1164C>T (p.Tyr388=) rs148976893 0.00136
NM_001395413.1(POR):c.975C>T (p.Ala325=) rs72557941 0.00136
NM_003119.4(SPG7):c.4G>A (p.Ala2Thr) rs535030441 0.00136
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945 0.00135
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr) rs150225103 0.00135
NM_019892.6(INPP5E):c.21T>C (p.Asn7=) rs571588033 0.00135
NM_022041.4(GAN):c.1612+12A>G rs150344737 0.00135
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=) rs141574387 0.00135
NM_153006.3(NAGS):c.1216G>A (p.Asp406Asn) rs140481641 0.00135
NM_203486.3(DLL3):c.352-15C>T rs201902809 0.00135
NM_000179.3(MSH6):c.3647-6T>A rs182871847 0.00134
NM_000349.3(STAR):c.504C>T (p.His168=) rs147138315 0.00134
NM_000355.4(TCN2):c.428-4T>C rs201408393 0.00134
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640 0.00134
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) rs371802557 0.00134
NM_001457.4(FLNB):c.420G>A (p.Thr140=) rs192491895 0.00134
NM_000237.3(LPL):c.1136C>T (p.Thr379Ile) rs76708715 0.00133
NM_000243.3(MEFV):c.986G>A (p.Arg329His) rs104895112 0.00133
NM_001379610.1(SPINK1):c.75C>T (p.Ser25=) rs35006579 0.00133
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00133
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) rs141553918 0.00133
NM_022124.6(CDH23):c.*434G>A rs529522213 0.00133
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met) rs111033393 0.00133
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446 0.00132
NM_001355436.2(SPTB):c.5915G>A (p.Arg1972Gln) rs140141633 0.00132
NM_014336.5(AIPL1):c.-17C>A rs188246267 0.00132
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_000433.4(NCF2):c.1184G>A (p.Arg395Gln) rs145229115 0.00131
NM_001164508.2(NEB):c.4463T>C (p.Met1488Thr) rs201545521 0.00131
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser) rs150966847 0.00131
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916 0.00131
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00131
NM_020451.3(SELENON):c.729G>A (p.Pro243=) rs139020143 0.00131
NM_022124.6(CDH23):c.*430A>T rs562268606 0.00131
NM_001355436.2(SPTB):c.414T>C (p.Ile138=) rs139699062 0.00130
NM_001558.4(IL10RA):c.698T>G (p.Val233Gly) rs138929400 0.00130
NM_004519.4(KCNQ3):c.*3591T>C rs778136645 0.00130
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys) rs78920863 0.00130
NM_130849.4(SLC39A4):c.1743C>T (p.Val581=) rs144252108 0.00130
NM_001256545.2(MEGF10):c.1626C>T (p.Cys542=) rs146902993 0.00129
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=) rs370627443 0.00129
NM_002693.3(POLG):c.1585+11T>C rs201566815 0.00129
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089 0.00129
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp) rs72660870 0.00129
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107 0.00128
NM_002234.4(KCNA5):c.633G>C (p.Glu211Asp) rs35853292 0.00128
NM_002693.3(POLG):c.2735-7C>G rs200372494 0.00128
NM_020376.4(PNPLA2):c.1220C>T (p.Ser407Phe) rs202081894 0.00128
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497 0.00128
NM_054012.4(ASS1):c.1101G>A (p.Leu367=) rs139031154 0.00128
NM_194318.4(B3GLCT):c.1207G>A (p.Val403Ile) rs147485868 0.00128
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00127
NM_002234.4(KCNA5):c.1595C>T (p.Pro532Leu) rs17221812 0.00127
NM_014239.4(EIF2B2):c.380C>T (p.Ala127Val) rs150617429 0.00127
NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly) rs186266220 0.00127
NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg) rs144973796 0.00127
NM_025137.4(SPG11):c.2887A>C (p.Arg963=) rs150689014 0.00127
NM_000081.4(LYST):c.8487C>T (p.Ile2829=) rs144597913 0.00126
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506 0.00126
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643 0.00125
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114 0.00125
NM_000218.3(KCNQ1):c.*904T>C rs186055804 0.00125
NM_000439.5(PCSK1):c.1197-9C>T rs200973203 0.00125
NM_000628.5(IL10RB):c.442G>A (p.Val148Met) rs45545138 0.00125
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595 0.00125
NM_001369369.1(FOXN1):c.546C>T (p.Asn182=) rs62640040 0.00125
NM_001698.3(AUH):c.381A>G (p.Ile127Met) rs146227896 0.00125
NM_018714.3(COG1):c.401C>T (p.Ser134Leu) rs146066919 0.00125
NM_032409.3(PINK1):c.67G>A (p.Gly23Ser) rs551542832 0.00125
NM_144508.5(KNL1):c.165C>T (p.Asn55=) rs201818761 0.00125
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala) rs150149784 0.00124
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000151.4(G6PC1):c.340+10C>A rs368450665 0.00124
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721 0.00124
NM_001369.3(DNAH5):c.2443T>A (p.Leu815Met) rs149654950 0.00124
NM_005373.3(MPL):c.754T>C (p.Tyr252His) rs141311765 0.00124
NM_006261.5(PROP1):c.471C>T (p.Tyr157=) rs145883811 0.00124
NM_024996.7(GFM1):c.690-5C>G rs201685981 0.00124
NM_000642.3(AGL):c.968G>A (p.Arg323Gln) rs139399527 0.00123
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628 0.00123
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=) rs201825451 0.00123
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=) rs79023226 0.00123
NM_003865.3(HESX1):c.525G>A (p.Ala175=) rs141063672 0.00123
NM_005535.3(IL12RB1):c.1172C>T (p.Pro391Leu) rs140254802 0.00123
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668 0.00123
NM_006996.3(SLC19A2):c.639G>A (p.Lys213=) rs137970656 0.00123
NM_020376.4(PNPLA2):c.1277A>G (p.Asn426Ser) rs140634178 0.00122
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592 0.00122
NM_000037.4(ANK1):c.4606C>T (p.Arg1536Cys) rs146416859 0.00121
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=) rs141552752 0.00121
NM_000215.4(JAK3):c.1581G>A (p.Leu527=) rs3213408 0.00121
NM_000426.4(LAMA2):c.2856+13G>A rs149487202 0.00121
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln) rs140621272 0.00121
NM_033100.4(CDHR1):c.408C>T (p.Ile136=) rs148125234 0.00121
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=) rs145483148 0.00120
NM_000426.4(LAMA2):c.1650C>T (p.Gly550=) rs899353 0.00120
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) rs141493373 0.00120
NM_016955.4(SEPSECS):c.780A>G (p.Ser260=) rs61747281 0.00120
NM_020451.3(SELENON):c.1602+14C>T rs41284307 0.00120
NM_000037.4(ANK1):c.997G>A (p.Asp333Asn) rs147608206 0.00119
NM_000215.4(JAK3):c.1929G>A (p.Leu643=) rs138645044 0.00119
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
NM_005677.4(COLQ):c.106+6T>C rs201376373 0.00119
NM_000035.4(ALDOB):c.*12C>T rs201867948 0.00118
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896 0.00118
NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His) rs147940248 0.00118
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys) rs137979116 0.00118
NM_014425.5(INVS):c.2310C>T (p.His770=) rs116606949 0.00118
NM_017636.4(TRPM4):c.988G>A (p.Glu330Lys) rs145771389 0.00118
NM_019616.4(F7):c.785G>A (p.Arg262Gln) rs77121822 0.00118
NM_206933.4(USH2A):c.1179A>G (p.Gln393=) rs148447919 0.00118
NM_000293.3(PHKB):c.1459-9G>T rs201995780 0.00117
NM_000527.5(LDLR):c.*19G>A rs56270417 0.00117
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143 0.00117
NM_020661.4(AICDA):c.48A>G (p.Lys16=) rs186739900 0.00117
NM_025099.6(CTC1):c.1720C>T (p.Pro574Ser) rs200440641 0.00117
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271 0.00116
NM_000426.4(LAMA2):c.255C>T (p.Ile85=) rs142083777 0.00116
NM_000527.5(LDLR):c.858C>T (p.Ser286=) rs140241383 0.00116
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328 0.00116
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser) rs148935720 0.00116
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787 0.00116
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837 0.00115
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser) rs142690258 0.00114
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser) rs76362149 0.00114
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488 0.00114
NM_002485.5(NBN):c.1317A>G (p.Ile439Met) rs28538230 0.00114
NM_014855.3(AP5Z1):c.1062C>T (p.His354=) rs192441133 0.00114
NM_024592.5(SRD5A3):c.110C>T (p.Pro37Leu) rs199975696 0.00114
NM_025099.6(CTC1):c.147C>T (p.Val49=) rs201492796 0.00114
NM_130849.4(SLC39A4):c.518C>T (p.Ala173Val) rs141890870 0.00114
NM_000130.5(F5):c.5265A>G (p.Ile1755Met) rs41272455 0.00113
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359 0.00113
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938 0.00113
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308 0.00113
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr) rs141867897 0.00113
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507 0.00112
NM_000170.3(GLDC):c.2988G>C (p.Gln996His) rs138640017 0.00112
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=) rs141004967 0.00112
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654 0.00112
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592 0.00112
NM_001164508.2(NEB):c.177G>A (p.Gln59=) rs200990309 0.00112
NM_014049.5(ACAD9):c.928G>A (p.Val310Ile) rs139073821 0.00112
NM_019032.6(ADAMTSL4):c.1893G>A (p.Pro631=) rs112045022 0.00112
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=) rs3219166 0.00112
NM_022369.4(STRA6):c.1685-5C>G rs201730717 0.00112
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_001386140.1(MTTP):c.972G>A (p.Glu324=) rs146953015 0.00111
NM_001457.4(FLNB):c.3522G>A (p.Ser1174=) rs140993979 0.00111
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys) rs138453255 0.00111
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00110
NM_000135.4(FANCA):c.80-13C>T rs189841793 0.00110
NM_000170.3(GLDC):c.498T>C (p.Pro166=) rs150193069 0.00110
NM_000249.4(MLH1):c.-28A>G rs56198082 0.00110
NM_001277115.2(DNAH11):c.12174C>T (p.Ala4058=) rs185794149 0.00110
NM_002618.4(PEX13):c.893T>C (p.Met298Thr) rs138545154 0.00110
NM_015166.4(MLC1):c.628G>A (p.Val210Ile) rs11568178 0.00110
NM_145861.4(EDARADD):c.161-13T>C rs184596437 0.00110
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_000528.4(MAN2B1):c.1110-8C>T rs201690866 0.00109
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) rs142483266 0.00109
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=) rs55923848 0.00109
NM_002857.4(PEX19):c.181-5C>T rs199818690 0.00109
NM_005591.4(MRE11):c.426C>T (p.Asp142=) rs3218740 0.00109
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=) rs140034972 0.00109
NM_018972.4(GDAP1):c.310+6del rs780828430 0.00109
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln) rs141828689 0.00109
NM_000137.4(FAH):c.565G>A (p.Val189Ile) rs145389125 0.00108
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr) rs201767727 0.00108
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007 0.00108
NM_002863.5(PYGL):c.603G>T (p.Val201=) rs138364932 0.00108
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln) rs140022033 0.00108
NM_052859.4(RFT1):c.303C>G (p.Gly101=) rs148576979 0.00108
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031 0.00107
NM_000153.4(GALC):c.659G>A (p.Arg220Gln) rs199967869 0.00107
NM_000515.5(GH1):c.15C>T (p.Ser5=) rs111957225 0.00107
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756 0.00107
NM_000081.4(LYST):c.7506A>G (p.Gln2502=) rs140434436 0.00106
NM_000359.3(TGM1):c.106C>A (p.Arg36Ser) rs145197904 0.00106
NM_001089.3(ABCA3):c.393C>T (p.Ala131=) rs145383120 0.00106
NM_001369.3(DNAH5):c.1644+12A>G rs201116549 0.00106
NM_006348.5(COG5):c.1160G>A (p.Arg387His) rs35258567 0.00106
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_144508.5(KNL1):c.251-7T>A rs555296963 0.00106
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) rs118158347 0.00106
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu) rs144968313 0.00106
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143 0.00105
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861 0.00105
NM_000302.4(PLOD1):c.137G>A (p.Arg46His) rs142710681 0.00105
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301 0.00105
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945 0.00104
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382 0.00104
NM_006493.4(CLN5):c.-146T>C rs201615354 0.00104
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610 0.00104
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_000543.5(SMPD1):c.1091+9C>T rs143612450 0.00103
NM_001042432.2(CLN3):c.768C>T (p.Thr256=) rs145967477 0.00103
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln) rs111768745 0.00103
NM_001277115.2(DNAH11):c.13257A>G (p.Gly4419=) rs200445638 0.00103
NM_002617.4(PEX10):c.601-27A>G rs144264865 0.00103
NM_004239.4(TRIP11):c.1280T>C (p.Leu427Ser) rs34761938 0.00103
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln) rs145415033 0.00103
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=) rs148848282 0.00103
NM_022356.4(P3H1):c.1504G>C (p.Gly502Arg) rs139259804 0.00103
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu) rs146603801 0.00103
NM_052859.4(RFT1):c.826+7T>C rs192264403 0.00103
NM_000215.4(JAK3):c.252G>A (p.Pro84=) rs139738701 0.00102
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121 0.00102
NM_000436.4(OXCT1):c.1080T>C (p.Asp360=) rs140869022 0.00102
NM_001134363.3(RBM20):c.280C>T (p.Leu94=) rs182768779 0.00102
NM_001164508.2(NEB):c.18262-13C>T rs374553944 0.00102
NM_001355436.2(SPTB):c.3015C>T (p.Ala1005=) rs147235045 0.00102
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser) rs138392504 0.00102
NM_005787.6(ALG3):c.845C>T (p.Ala282Val) rs2233466 0.00102
NM_006096.4(NDRG1):c.789G>A (p.Ser263=) rs61755062 0.00102
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr) rs143764421 0.00102
NM_014908.4(DOLK):c.700A>G (p.Met234Val) rs139787271 0.00102
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439 0.00102
NM_000037.4(ANK1):c.3102C>T (p.Asn1034=) rs145169484 0.00101
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718 0.00101
NM_000100.4(CSTB):c.121G>A (p.Val41Met) rs143153487 0.00101
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_000155.4(GALT):c.919T>A (p.Ser307Thr) rs61735983 0.00101
NM_000162.5(GCK):c.-455A>G rs140894490 0.00101
NM_000286.3(PEX12):c.722G>T (p.Gly241Val) rs139417458 0.00101
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_001101426.4(CRPPA):c.790-11C>T rs141363557 0.00101
NM_001126108.2(SLC12A3):c.1567+7C>T rs376819753 0.00101
NM_001482.3(GATM):c.69+13C>T rs573273215 0.00101
NM_001491.3(GCNT2):c.254C>G (p.Pro85Arg) rs17637756 0.00101
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu) rs151275800 0.00101
NM_007078.3(LDB3):c.897-6834C>T rs185972751 0.00101
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026 0.00101
NM_022124.6(CDH23):c.-15C>A rs760922529 0.00101
NM_024592.5(SRD5A3):c.566A>C (p.Tyr189Ser) rs35496669 0.00101
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) rs145886657 0.00101
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919 0.00100
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137 0.00100
NM_014244.5(ADAMTS2):c.2958+4C>T rs375345961 0.00100
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=) rs74880446 0.00100
NM_022369.4(STRA6):c.357C>T (p.Pro119=) rs139775570 0.00100
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610 0.00100
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=) rs144216539 0.00100
NM_000037.4(ANK1):c.2960+13G>T rs200746947 0.00099
NM_003172.4(SURF1):c.211G>C (p.Val71Leu) rs147993882 0.00099
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_014363.6(SACS):c.4015A>C (p.Ile1339Leu) rs143144795 0.00099
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904 0.00099
NM_020919.4(ALS2):c.3046C>G (p.Pro1016Ala) rs41308840 0.00099
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919 0.00098
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085 0.00098
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053 0.00098
NM_000687.4(AHCY):c.219+7C>G rs200332864 0.00098
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=) rs34216426 0.00098
NM_001384474.1(LOXHD1):c.4440G>A (p.Val1480=) rs76946640 0.00098
NM_001457.4(FLNB):c.1697G>A (p.Arg566Gln) rs150747960 0.00098
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr) rs141463026 0.00098
NM_021922.3(FANCE):c.696G>A (p.Glu232=) rs147356927 0.00098
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696 0.00097
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=) rs139050119 0.00097
NM_001349206.2(LPIN1):c.1225C>G (p.Gln409Glu) rs146529487 0.00097
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) rs141200145 0.00096
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833 0.00096
NM_000751.3(CHRND):c.1400G>A (p.Arg467His) rs148939701 0.00096
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001042432.1(CLN3):c.-264C>G rs187163584 0.00096
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764 0.00096
NM_001457.4(FLNB):c.808A>G (p.Met270Val) rs145036794 0.00096
NM_006348.5(COG5):c.298C>T (p.Leu100Phe) rs150351852 0.00096
NM_017837.4(PIGV):c.348G>A (p.Leu116=) rs148662665 0.00096
NM_000170.3(GLDC):c.2964G>A (p.Arg988=) rs146045718 0.00095
NM_004239.4(TRIP11):c.4063T>A (p.Ser1355Thr) rs138661581 0.00095
NM_000123.4(ERCC5):c.1110T>A (p.Arg370=) rs150791877 0.00094
NM_000817.3(GAD1):c.1173C>T (p.Asn391=) rs34856125 0.00094
NM_000817.3(GAD1):c.1251C>T (p.Leu417=) rs35426017 0.00094
NM_000817.3(GAD1):c.807G>A (p.Pro269=) rs34100397 0.00094
NM_003465.3(CHIT1):c.447C>T (p.Ala149=) rs139891908 0.00094
NM_014714.4(IFT140):c.1824A>G (p.Thr608=) rs35433680 0.00094
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921 0.00094
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter) rs140799936 0.00094
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys) rs61995921 0.00094
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=) rs141028210 0.00094
NM_000016.6(ACADM):c.994C>T (p.Leu332=) rs138098371 0.00093
NM_000057.4(BLM):c.3359-13A>G rs200250931 0.00093
NM_000094.4(COL7A1):c.8568C>T (p.Ser2856=) rs148454724 0.00093
NM_000466.3(PEX1):c.2926+8T>C rs369877998 0.00093
NM_001244710.2(GFPT1):c.1882G>A (p.Val628Ile) rs190072721 0.00093
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_001395413.1(POR):c.308A>G (p.His103Arg) rs200622912 0.00093
NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=) rs138049763 0.00093
NM_012472.6(DNAAF11):c.31C>T (p.Arg11Trp) rs115536785 0.00093
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu) rs147316771 0.00093
NM_000137.4(FAH):c.1205G>A (p.Arg402His) rs147796599 0.00092
NM_000512.5(GALNS):c.303C>T (p.Asn101=) rs79146426 0.00092
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=) rs146932786 0.00092
NM_001277115.2(DNAH11):c.9773A>G (p.Tyr3258Cys) rs182808328 0.00092
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser) rs143826762 0.00092
NM_004132.5(HABP2):c.1379G>C (p.Gly460Ala) rs113091571 0.00092
NM_014049.5(ACAD9):c.453+8A>G rs199919500 0.00092
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_014855.3(AP5Z1):c.558C>T (p.Tyr186=) rs371534878 0.00092
NM_144508.5(KNL1):c.2949A>G (p.Leu983=) rs201182330 0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000138.5(FBN1):c.783T>C (p.Asn261=) rs113721547 0.00091
NM_000218.3(KCNQ1):c.*1025G>C rs181226788 0.00091
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_000426.4(LAMA2):c.1782+10C>T rs200030296 0.00091
NM_000426.4(LAMA2):c.9211+6T>C rs201375881 0.00091
NM_001080.3(ALDH5A1):c.354+14G>A rs572861590 0.00091
NM_004525.3(LRP2):c.4831C>T (p.Leu1611=) rs151079411 0.00091
NM_006892.4(DNMT3B):c.886G>A (p.Val296Ile) rs145632647 0.00091
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=) rs148391179 0.00091
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=) rs61754107 0.00091
NM_000260.4(MYO7A):c.1554+7C>T rs150114658 0.00090
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530 0.00090
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199 0.00090
NM_002778.4(PSAP):c.174+9C>T rs141133813 0.00090
NM_006005.3(WFS1):c.683G>A (p.Arg228His) rs150771247 0.00090
NM_000290.4(PGAM2):c.459C>T (p.Cys153=) rs143809043 0.00089
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser) rs142063328 0.00089
NM_001160372.4(TRAPPC9):c.3414T>G (p.Ser1138Arg) rs147127279 0.00089
NM_001395413.1(POR):c.678C>T (p.Ala226=) rs72557906 0.00089
NM_003748.4(ALDH4A1):c.1261T>C (p.Cys421Arg) rs149414160 0.00089
NM_005142.3(CBLIF):c.910C>T (p.Pro304Ser) rs150926439 0.00089
NM_005546.4(ITK):c.1510A>T (p.Thr504Ser) rs151046132 0.00089
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser) rs200164758 0.00088
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296 0.00088
NM_014339.7(IL17RA):c.465G>C (p.Gln155His) rs142199303 0.00088
NM_053025.4(MYLK):c.3832-6C>T rs185681684 0.00088
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_000282.4(PCCA):c.2040+11dup rs779884567 0.00087
NM_000426.4(LAMA2):c.6708-3A>C rs112637707 0.00087
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_001166114.2(PNPLA6):c.3912C>T (p.Asp1304=) rs149871062 0.00087
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=) rs138209330 0.00087
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740 0.00087
NM_001887.4(CRYBB1):c.156G>A (p.Ala52=) rs149902597 0.00087
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949 0.00087
NM_138694.4(PKHD1):c.2255C>T (p.Thr752Met) rs200654041 0.00087
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys) rs35885472 0.00086
NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile) rs113209379 0.00086
NM_000183.3(HADHB):c.1206C>T (p.Tyr402=) rs146538551 0.00086
NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys) rs146462599 0.00086
NM_001136472.2(LITAF):c.146C>T (p.Thr49Met) rs141862602 0.00086
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934 0.00086
NM_003283.6(TNNT1):c.750+15C>T rs138664823 0.00086
NM_005726.6(TSFM):c.69T>A (p.Leu23=) rs147317818 0.00086
NM_014244.5(ADAMTS2):c.2267T>C (p.Val756Ala) rs141650732 0.00086
NM_014714.4(IFT140):c.4297C>T (p.Arg1433Cys) rs141392067 0.00086
NM_017777.4(MKS1):c.27C>T (p.Asp9=) rs369488349 0.00086
NM_031885.5(BBS2):c.1380C>T (p.Phe460=) rs141046144 0.00086
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=) rs143782439 0.00085
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val) rs77300588 0.00085
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647 0.00085
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala) rs148410446 0.00085
NM_022098.4(XPNPEP3):c.817A>G (p.Ser273Gly) rs138501598 0.00085
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=) rs146054214 0.00085
NM_178452.6(DNAAF1):c.1354C>A (p.Pro452Thr) rs145680314 0.00085
NM_000211.5(ITGB2):c.2050C>T (p.Arg684Cys) rs147238010 0.00084
NM_003640.5(ELP1):c.203G>T (p.Ser68Ile) rs143723093 0.00084
NM_004525.3(LRP2):c.987G>A (p.Ala329=) rs141751667 0.00084
NM_032634.4(PIGO):c.626A>G (p.Asn209Ser) rs138028827 0.00084
NM_000154.2(GALK1):c.864G>C (p.Thr288=) rs201247556 0.00083
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val) rs5397 0.00083
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566 0.00083
NM_006005.3(WFS1):c.966C>T (p.His322=) rs140196582 0.00083
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp) rs139063843 0.00083
NM_024105.4(ALG12):c.1299C>T (p.Leu433=) rs150614794 0.00083
NM_138959.3(VANGL1):c.274A>G (p.Ile92Val) rs143196463 0.00083
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) rs148354076 0.00082
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) rs138654170 0.00082
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047 0.00082
NM_000130.5(F5):c.4405T>C (p.Ser1469Pro) rs144262027 0.00081
NM_000159.4(GCDH):c.471C>T (p.Ser157=) rs146682905 0.00081
NM_000203.5(IDUA):c.408C>T (p.Ala136=) rs138195998 0.00081
NM_000365.6(TPI1):c.366C>T (p.Leu122=) rs138131191 0.00081
NM_000410.4(HFE):c.829G>A (p.Glu277Lys) rs140080192 0.00081
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_001142800.2(EYS):c.2562C>T (p.Asp854=) rs188011013 0.00081
NM_001277115.2(DNAH11):c.11374A>G (p.Ile3792Val) rs201700629 0.00081
NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=) rs187451323 0.00081
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098 0.00081
NM_001875.5(CPS1):c.2192+6A>T rs201058019 0.00081
NM_004577.4(PSPH):c.455C>T (p.Thr152Ile) rs147304638 0.00081
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011 0.00081
NM_012472.6(DNAAF11):c.719T>C (p.Leu240Ser) rs147849568 0.00081
NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu) rs151241589 0.00081
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503 0.00080
NM_000426.4(LAMA2):c.8282T>C (p.Ile2761Thr) rs115650537 0.00080
NM_000521.4(HEXB):c.1082+13C>T rs201428805 0.00080
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126 0.00080
NM_000540.3(RYR1):c.7536C>T (p.Ile2512=) rs368560744 0.00080
NM_001040716.2(PC):c.2550C>T (p.Cys850=) rs61749179 0.00080
NM_001256545.2(MEGF10):c.1975+10G>A rs148814585 0.00080
NM_001277115.2(DNAH11):c.13049+15C>T rs200860431 0.00080
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=) rs147576439 0.00080
NM_006397.3(RNASEH2A):c.758T>C (p.Ile253Thr) rs145662304 0.00080
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_000016.6(ACADM):c.645T>A (p.Ala215=) rs147395095 0.00079
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) rs140169311 0.00079
NM_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu) rs142585703 0.00079
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys) rs111404182 0.00079
NM_003060.4(SLC22A5):c.1380C>T (p.Asn460=) rs149521997 0.00079
NM_014855.3(AP5Z1):c.999C>T (p.Asp333=) rs201196622 0.00079
NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=) rs201592854 0.00079
NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617 0.00078
NM_000271.5(NPC1):c.1947+8G>C rs66620415 0.00078
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=) rs117400594 0.00078
NM_000528.4(MAN2B1):c.1230+9G>C rs367590716 0.00078
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=) rs200588338 0.00078
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met) rs72954276 0.00078
NM_001918.5(DBT):c.327C>T (p.Thr109=) rs138796800 0.00078
NM_002693.3(POLG):c.2853C>T (p.Tyr951=) rs41546712 0.00078
NM_016123.4(IRAK4):c.291G>A (p.Ala97=) rs17851028 0.00078
NM_017636.4(TRPM4):c.2561A>G (p.Gln854Arg) rs172155862 0.00078
NM_020533.3(MCOLN1):c.1584C>T (p.Gly528=) rs145386883 0.00078
NM_021645.6(UTP14C):c.-486-6T>C rs200751186 0.00078
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg) rs147328685 0.00078
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_000512.5(GALNS):c.324C>T (p.Tyr108=) rs150582627 0.00077
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=) rs143318498 0.00077
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00077
NM_001377.3(DYNC2H1):c.2550G>A (p.Leu850=) rs375307767 0.00077
NM_005327.7(HADH):c.*600C>T rs544321475 0.00077
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser) rs150622626 0.00077
NM_014252.4(SLC25A15):c.564C>T (p.Phe188=) rs141028076 0.00077
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_052989.3(IFT122):c.214T>G (p.Ser72Ala) rs144140226 0.00077
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=) rs184883937 0.00077
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln) rs145210664 0.00076
NM_000341.4(SLC3A1):c.788G>C (p.Ser263Thr) rs139310305 0.00076
NM_001256545.2(MEGF10):c.1130+3G>A rs115184652 0.00076
NM_003764.4(STX11):c.26T>G (p.Leu9Arg) rs34470310 0.00076
NM_004453.4(ETFDH):c.832-10T>G rs200911913 0.00076
NM_006005.3(WFS1):c.1152C>T (p.Phe384=) rs149846741 0.00076
NM_017739.4(POMGNT1):c.*34G>A rs200540049 0.00076
NM_019040.5(ELP4):c.*2982G>A rs191399467 0.00076
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln) rs181758389 0.00076
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile) rs78518523 0.00076
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile) rs150185067 0.00076
NM_194318.4(B3GLCT):c.850+11G>A rs199615610 0.00076
NM_000073.3(CD3G):c.56G>A (p.Gly19Asp) rs146393315 0.00075
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His) rs45510294 0.00075
NM_001130987.2(DYSF):c.6174-9C>T rs201070766 0.00075
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=) rs200425929 0.00075
NM_001368894.2(PAX6):c.873G>A (p.Gln291=) rs149053004 0.00075
NM_006397.3(RNASEH2A):c.328A>C (p.Lys110Gln) rs143029477 0.00075
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247 0.00075
NM_022089.4(ATP13A2):c.106-8G>A rs200587951 0.00075
NM_052989.3(IFT122):c.1026C>T (p.Asp342=) rs79187669 0.00075
NM_138694.4(PKHD1):c.7912-5T>G rs371510537 0.00075
NM_000130.5(F5):c.5431A>T (p.Met1811Leu) rs138877178 0.00074
NM_000426.4(LAMA2):c.7869A>G (p.Glu2623=) rs140658201 0.00074
NM_000426.4(LAMA2):c.8586T>C (p.Tyr2862=) rs142451929 0.00074
NM_000553.6(WRN):c.3059G>A (p.Arg1020His) rs115298665 0.00074
NM_001017420.3(ESCO2):c.1013+7A>G rs149494070 0.00074
NM_004453.4(ETFDH):c.1049G>A (p.Arg350Gln) rs139306043 0.00074
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu) rs180775012 0.00074
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg) rs148575027 0.00074
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438 0.00074
NM_000178.4(GSS):c.1158G>A (p.Leu386=) rs141866304 0.00073
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr) rs144777709 0.00073
NM_000274.4(OAT):c.1224T>C (p.His408=) rs201864147 0.00073
NM_000341.4(SLC3A1):c.1126G>A (p.Gly376Ser) rs143068960 0.00073
NM_000532.5(PCCB):c.429+7G>A rs201986472 0.00073
NM_001005242.3(PKP2):c.1171-10T>C rs200122872 0.00073
NM_001126108.2(SLC12A3):c.2028C>T (p.His676=) rs35070204 0.00073
NM_003060.4(SLC22A5):c.279G>C (p.Ser93=) rs377734902 0.00073
NM_003119.4(SPG7):c.1324+10C>T rs202070075 0.00073
NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr) rs2099104 0.00073
NM_003640.5(ELP1):c.3347-15A>G rs200154542 0.00073
NM_014855.3(AP5Z1):c.1773C>T (p.Tyr591=) rs372922535 0.00073
NM_018389.5(SLC35C1):c.748G>A (p.Gly250Arg) rs148606857 0.00073
NM_020376.4(PNPLA2):c.964C>T (p.Leu322Phe) rs137866968 0.00073
NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn) rs145288025 0.00073
NM_052945.4(TNFRSF13C):c.436C>T (p.Pro146Ser) rs151243201 0.00073
NM_080424.4(SP110):c.1706+4A>T rs201034113 0.00073
NM_152783.5(D2HGDH):c.1140+8G>A rs369135156 0.00073
NM_172250.3(MMAA):c.966A>G (p.Pro322=) rs150692463 0.00073
NM_206933.4(USH2A):c.2001C>T (p.His667=) rs142870255 0.00073
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) rs41298753 0.00072
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534 0.00072
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu) rs139631202 0.00072
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=) rs201400523 0.00072
NM_003238.6(TGFB2):c.303G>A (p.Lys101=) rs147052890 0.00072
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385 0.00072
NM_014336.5(AIPL1):c.780C>T (p.His260=) rs145304845 0.00072
NM_152383.5(DIS3L2):c.410A>G (p.Tyr137Cys) rs201733073 0.00072
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=) rs139436386 0.00072
NM_000282.4(PCCA):c.1896A>G (p.Thr632=) rs61760965 0.00071
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737 0.00071
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp) rs148541407 0.00071
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=) rs201388780 0.00071
NM_001457.4(FLNB):c.3288C>T (p.Ser1096=) rs77934864 0.00071
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) rs3176162 0.00071
NM_014363.6(SACS):c.1885G>A (p.Ala629Thr) rs149638449 0.00071
NM_014908.4(DOLK):c.1314C>T (p.Leu438=) rs148118523 0.00071
NM_015166.4(MLC1):c.627C>T (p.Ala209=) rs138153307 0.00071
NM_024513.4(FYCO1):c.1248G>A (p.Lys416=) rs149643762 0.00071
NM_213653.4(HJV):c.510C>T (p.Phe170=) rs139281553 0.00071
NM_000153.4(GALC):c.-67T>G rs571945132 0.00070
NM_000274.4(OAT):c.48C>T (p.Arg16=) rs143526711 0.00070
NM_000275.3(OCA2):c.1857C>T (p.Asp619=) rs7164127 0.00070
NM_000817.3(GAD1):c.1611+5G>A rs147201199 0.00070
NM_001277115.2(DNAH11):c.695C>T (p.Pro232Leu) rs200454446 0.00070
NM_003896.4(ST3GAL5):c.1212G>A (p.Glu404=) rs148195895 0.00070
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_012275.3(IL36RN):c.363G>A (p.Leu121=) rs151274071 0.00070
NM_020320.5(RARS2):c.456T>C (p.Asn152=) rs141374913 0.00070
NM_020451.3(SELENON):c.1623C>T (p.Asn541=) rs199911454 0.00070
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937 0.00070
NM_024513.4(FYCO1):c.3903A>G (p.Thr1301=) rs144525738 0.00070
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=) rs141089495 0.00070
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His) rs147488907 0.00069
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147 0.00069
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_001040436.3(YARS2):c.*360A>G rs567955032 0.00069
NM_001082971.2(DDC):c.715A>T (p.Met239Leu) rs11575376 0.00069
NM_001164508.2(NEB):c.20128G>A (p.Val6710Ile) rs199890298 0.00069
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=) rs184319249 0.00069
NM_001277115.2(DNAH11):c.11277C>G (p.Ile3759Met) rs202148932 0.00069
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=) rs191266255 0.00069
NM_001277115.2(DNAH11):c.9939G>A (p.Val3313=) rs200349268 0.00069
NM_001330078.2(NRXN1):c.3201C>T (p.Ser1067=) rs75275592 0.00069
NM_001377.3(DYNC2H1):c.3170G>A (p.Arg1057His) rs191381310 0.00069
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=) rs201366522 0.00069
NM_002303.6(LEPR):c.3479T>C (p.Met1160Thr) rs145685060 0.00069
NM_003659.4(AGPS):c.64G>A (p.Ala22Thr) rs759572190 0.00069
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934 0.00069
NM_206937.2(LIG4):c.285G>A (p.Glu95=) rs150146196 0.00069
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037 0.00068
NM_000410.4(HFE):c.1006+14A>G rs201262562 0.00068
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_000512.5(GALNS):c.858G>A (p.Thr286=) rs140299014 0.00068
NM_000787.4(DBH):c.1215C>T (p.His405=) rs144219953 0.00068
NM_002292.4(LAMB2):c.3582C>T (p.Phe1194=) rs138540017 0.00068
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile) rs186946267 0.00068
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=) rs372175239 0.00068
NM_012073.5(CCT5):c.954C>T (p.Asn318=) rs150870419 0.00068
NM_018006.5(TRMU):c.900G>T (p.Leu300=) rs113846383 0.00068
NM_020376.4(PNPLA2):c.369C>T (p.Asp123=) rs142174851 0.00068
NM_058246.4(DNAJB6):c.962C>T (p.Ser321Leu) rs142974468 0.00068
NM_138413.4(HOGA1):c.708G>T (p.Val236=) rs61731946 0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe) rs145208175 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_153006.3(NAGS):c.1302C>T (p.Pro434=) rs150004962 0.00068
NM_153603.4(COG7):c.1455C>T (p.Phe485=) rs116153163 0.00068
NM_153603.4(COG7):c.75C>G (p.Ser25=) rs149481813 0.00068
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys) rs142626656 0.00067
NM_000037.4(ANK1):c.1404+15C>T rs201598401 0.00067
NM_000071.3(CBS):c.829-13G>A rs201106576 0.00067
NM_000137.4(FAH):c.553+10C>T rs201051426 0.00067
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000553.6(WRN):c.1835C>G (p.Ser612Cys) rs11574250 0.00067
NM_000687.4(AHCY):c.1008C>T (p.Ile336=) rs139344907 0.00067
NM_001242957.3(MAK):c.975G>A (p.Pro325=) rs145014649 0.00067
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366 0.00067
NM_002857.4(PEX19):c.498T>G (p.Asp166Glu) rs142780305 0.00067
NM_004100.5(EYA4):c.866C>T (p.Thr289Met) rs41286200 0.00067
NM_015192.4(PLCB1):c.2841A>G (p.Glu947=) rs35245209 0.00067
NM_024513.4(FYCO1):c.4151C>G (p.Ala1384Gly) rs149783680 0.00067
NM_025243.4(SLC19A3):c.801A>G (p.Gln267=) rs147205930 0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_000046.5(ARSB):c.1337-3T>A rs183651028 0.00066
NM_000154.2(GALK1):c.746C>T (p.Ala249Val) rs149825190 0.00066
NM_000179.3(MSH6):c.1665A>G (p.Ala555=) rs146785465 0.00066
NM_000237.3(LPL):c.786G>A (p.Gln262=) rs140986245 0.00066
NM_000253.3(MTTP):c.-214G>A rs569667113 0.00066
NM_000293.3(PHKB):c.1746A>G (p.Leu582=) rs111970242 0.00066
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_000426.4(LAMA2):c.6268+5G>C rs182064878 0.00066
NM_001035.3(RYR2):c.11557+14C>T rs374155447 0.00066
NM_001100.4(ACTA1):c.132C>T (p.Gly44=) rs146956806 0.00066
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) rs202238753 0.00066
NM_001457.4(FLNB):c.4233C>G (p.Phe1411Leu) rs143831841 0.00066
NM_001698.3(AUH):c.598+10A>C rs186203318 0.00066
NM_003119.4(SPG7):c.199C>T (p.Leu67=) rs148315471 0.00066
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_005142.3(CBLIF):c.455C>T (p.Pro152Leu) rs148081315 0.00066
NM_005591.4(MRE11):c.120C>T (p.Leu40=) rs1805364 0.00066
NM_020451.3(SELENON):c.-35T>C rs886038656 0.00066
NM_024513.4(FYCO1):c.1887C>T (p.Val629=) rs140372149 0.00066
NM_024513.4(FYCO1):c.3024T>A (p.Ser1008Arg) rs146592828 0.00066
NM_030787.4(CFHR5):c.1412G>A (p.Gly471Glu) rs144438200 0.00066
NM_032409.3(PINK1):c.1075G>A (p.Ala359Thr) rs76753586 0.00066
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp) rs148195424 0.00066
NM_198904.4(GABRG2):c.-104T>G rs886060380 0.00066
NM_000306.4(POU1F1):c.605-5T>G rs201406891 0.00065
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr) rs78165611 0.00065
NM_000426.4(LAMA2):c.2115T>G (p.Leu705=) rs149753273 0.00065
NM_001368894.2(PAX6):c.*891G>A rs530259403 0.00065
NM_001369369.1(FOXN1):c.1657A>G (p.Ser553Gly) rs137872361 0.00065
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn) rs142916171 0.00065
NM_004525.3(LRP2):c.4803C>T (p.Cys1601=) rs141068435 0.00065
NM_015192.4(PLCB1):c.1881G>A (p.Gln627=) rs45492700 0.00065
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) rs142106322 0.00065
NM_000037.4(ANK1):c.2196+6G>A rs200761553 0.00064
NM_000070.3(CAPN3):c.525C>T (p.Asp175=) rs144383442 0.00064
NM_000254.3(MTR):c.2622G>A (p.Pro874=) rs141919148 0.00064
NM_000295.5(SERPINA1):c.43C>T (p.Leu15=) rs147283849 0.00064
NM_000302.4(PLOD1):c.804C>T (p.Thr268=) rs140758113 0.00064
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351 0.00064
NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=) rs138837774 0.00064
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139 0.00064
NM_001372051.1(CASP8):c.892A>G (p.Ile298Val) rs146286958 0.00064
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447 0.00064
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) rs200038418 0.00064
NM_018714.3(COG1):c.1282-3T>C rs188853520 0.00064
NM_025000.4(DCAF17):c.792T>C (p.Thr264=) rs199742600 0.00064
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342 0.00063
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636 0.00063
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) rs115994665 0.00063
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg) rs144155507 0.00063
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_003849.4(SUCLG1):c.202-4T>C rs141973418 0.00063
NM_006892.4(DNMT3B):c.433-13C>T rs182618840 0.00063
NM_014140.4(SMARCAL1):c.863-9C>G rs188833040 0.00063
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln) rs121908517 0.00063
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933 0.00063
NM_018100.4(EFHC1):c.64-5T>C rs201860746 0.00063
NM_022436.3(ABCG5):c.1251G>A (p.Gln417=) rs146801512 0.00063
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037 0.00063
NM_058246.4(DNAJB6):c.*610C>T rs886062134 0.00063
NM_058246.4(DNAJB6):c.*934C>T rs886062136 0.00063
NM_000053.4(ATP7B):c.1543+13C>T rs200171850 0.00062
NM_000130.5(F5):c.3211C>T (p.His1071Tyr) rs146408488 0.00062
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980 0.00062
NM_000521.4(HEXB):c.1417+11C>T rs146572414 0.00062
NM_000709.4(BCKDHA):c.1191C>T (p.Ala397=) rs374403946 0.00062
NM_001199397.3(NEK1):c.686A>G (p.Tyr229Cys) rs61737748 0.00062
NM_001365088.1(SLC12A6):c.1164C>T (p.Asp388=) rs145615604 0.00062
NM_003659.4(AGPS):c.1380A>C (p.Pro460=) rs148418568 0.00062
NM_003850.3(SUCLA2):c.236C>T (p.Ser79Leu) rs142289138 0.00062
NM_004525.3(LRP2):c.11264-14C>G rs377424162 0.00062
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) rs141959242 0.00062
NM_198525.3(KIF7):c.2237G>A (p.Arg746Gln) rs151317163 0.00062
NM_000018.4(ACADVL):c.1284G>A (p.Lys428=) rs35501596 0.00061
NM_000094.4(COL7A1):c.5217T>A (p.Pro1739=) rs147611409 0.00061
NM_000130.5(F5):c.5589C>A (p.Pro1863=) rs148772659 0.00061
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_000419.5(ITGA2B):c.799+15C>T rs374469971 0.00061
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser) rs202015519 0.00061
NM_001045.6(SLC6A4):c.12G>A (p.Thr4=) rs114814153 0.00061
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=) rs117987946 0.00061
NM_001164508.2(NEB):c.18431A>G (p.His6144Arg) rs34504204 0.00061
NM_001166114.2(PNPLA6):c.1935C>G (p.Arg645=) rs138023728 0.00061
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001330078.2(NRXN1):c.-995T>C rs200865985 0.00061
NM_001378120.1(MBD5):c.-831+9dup rs796052705 0.00061
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193 0.00061
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=) rs151251039 0.00061
NM_002474.3(MYH11):c.2049C>T (p.His683=) rs150924100 0.00061
NM_002693.3(POLG):c.1386G>A (p.Ser462=) rs62640034 0.00061
NM_003060.4(SLC22A5):c.1441G>A (p.Val481Ile) rs11568513 0.00061
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr) rs140769107 0.00061
NM_013435.3(RAX):c.24A>G (p.Pro8=) rs771409497 0.00061
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser) rs141874052 0.00061
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=) rs141348218 0.00061
NM_014363.6(SACS):c.13344C>T (p.Arg4448=) rs200157359 0.00061
NM_015627.3(LDLRAP1):c.284G>A (p.Arg95Gln) rs139877665 0.00061
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro) rs143819820 0.00061
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507 0.00061
NM_022124.6(CDH23):c.9198+13C>T rs375384238 0.00061
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) rs117320408 0.00061
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln) rs142896856 0.00061
NM_203486.3(DLL3):c.153C>T (p.Ser51=) rs373980582 0.00061
NM_000426.4(LAMA2):c.6629T>C (p.Val2210Ala) rs78880369 0.00060
NM_000817.3(GAD1):c.1002+4T>G rs139531653 0.00060
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) rs140852019 0.00060
NM_001040716.2(PC):c.496G>A (p.Val166Ile) rs147697454 0.00060
NM_003659.4(AGPS):c.637+13C>T rs182602770 0.00060
NM_014339.7(IL17RA):c.978G>A (p.Thr326=) rs143239201 0.00060
NM_014855.3(AP5Z1):c.1584C>T (p.Gly528=) rs377310579 0.00060
NM_014855.3(AP5Z1):c.849C>T (p.Ala283=) rs572271008 0.00060
NM_019040.5(ELP4):c.*3528A>G rs143185259 0.00060
NM_019844.4(SLCO1B3):c.1593A>G (p.Thr531=) rs142694767 0.00060
NM_153603.4(COG7):c.2052G>A (p.Ser684=) rs142744907 0.00060
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr) rs35602796 0.00060
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074 0.00059
NM_000222.3(KIT):c.1195G>A (p.Val399Ile) rs143707288 0.00059
NM_000350.3(ABCA4):c.4352+13G>A rs61754048 0.00059
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=) rs200682458 0.00059
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=) rs150705788 0.00059
NM_005908.4(MANBA):c.531T>C (p.His177=) rs149902075 0.00059
NM_021922.3(FANCE):c.1095A>C (p.Arg365Ser) rs141268133 0.00059
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=) rs146115467 0.00058
NM_000081.4(LYST):c.2363+10dup rs760632806 0.00058
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=) rs200454769 0.00058
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996 0.00058
NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=) rs150927045 0.00058
NM_000512.5(GALNS):c.1242+3A>G rs377067312 0.00058
NM_000817.3(GAD1):c.399T>C (p.Asp133=) rs112737041 0.00058
NM_001002755.4(NFU1):c.167-13T>G rs181762580 0.00058
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=) rs61745540 0.00058
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=) rs113422365 0.00058
NM_001395413.1(POR):c.1806+12G>A rs371432868 0.00058
NM_001558.4(IL10RA):c.320G>A (p.Arg107Gln) rs145949718 0.00058
NM_001609.4(ACADSB):c.1228+8G>C rs202191462 0.00058
NM_001875.5(CPS1):c.2025C>T (p.Ala675=) rs143913650 0.00058
NM_002617.4(PEX10):c.896C>T (p.Ala299Val) rs78620392 0.00058
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333 0.00058
NM_006493.4(CLN5):c.459G>A (p.Met153Ile) rs144656959 0.00058
NM_012472.6(DNAAF11):c.1245A>G (p.Lys415=) rs149631064 0.00058
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) rs148616219 0.00058
NM_052859.4(RFT1):c.47C>G (p.Ser16Cys) rs148716754 0.00058
NM_080424.4(SP110):c.1591-9C>T rs202101309 0.00058
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731 0.00058
NM_000048.4(ASL):c.399G>A (p.Ser133=) rs141584041 0.00057
NM_000155.4(GALT):c.687+9G>C rs117998880 0.00057
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237 0.00057
NM_000540.3(RYR1):c.2091C>T (p.Ala697=) rs138704724 0.00057
NM_000787.4(DBH):c.165G>A (p.Pro55=) rs139591190 0.00057
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842 0.00057
NM_002474.3(MYH11):c.12G>A (p.Lys4=) rs112650390 0.00057
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys) rs71524353 0.00057
NM_015272.5(RPGRIP1L):c.*1584G>T rs151226475 0.00057
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp) rs78211353 0.00057
NM_020376.4(PNPLA2):c.399C>T (p.Asn133=) rs143992505 0.00057
NM_025000.4(DCAF17):c.1030T>C (p.Trp344Arg) rs78488864 0.00057
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile) rs200606803 0.00057
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile) rs149111536 0.00057
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488 0.00057
NM_000017.4(ACADS):c.669G>A (p.Thr223=) rs17848089 0.00056
NM_000071.3(CBS):c.215A>T (p.Lys72Ile) rs192232907 0.00056
NM_000135.4(FANCA):c.3514-13G>A rs200270574 0.00056
NM_000215.4(JAK3):c.2152G>C (p.Val718Leu) rs146837396 0.00056
NM_000341.4(SLC3A1):c.1767C>T (p.Ile589=) rs142141929 0.00056
NM_000360.4(TH):c.1398C>T (p.Ile466=) rs118175546 0.00056
NM_000410.4(HFE):c.884T>C (p.Val295Ala) rs143175221 0.00056
NM_000426.4(LAMA2):c.7300+10T>A rs200469923 0.00056
NM_000492.4(CFTR):c.2245C>T (p.Leu749=) rs151235408 0.00056
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=) rs368834616 0.00056
NM_001160372.4(TRAPPC9):c.3175G>A (p.Ala1059Thr) rs150200902 0.00056
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186 0.00056
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=) rs371086728 0.00056
NM_001457.4(FLNB):c.4040A>G (p.Asn1347Ser) rs146093652 0.00056
NM_002474.3(MYH11):c.429G>A (p.Lys143=) rs200672270 0.00056
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00056
NM_002693.3(POLG):c.798G>T (p.Val266=) rs143631183 0.00056
NM_003907.3(EIF2B5):c.1956C>T (p.Phe652=) rs149264256 0.00056
NM_005787.6(ALG3):c.222C>T (p.Tyr74=) rs200875721 0.00056
NM_006348.5(COG5):c.1211A>G (p.Gln404Arg) rs189560910 0.00056
NM_014363.6(SACS):c.7165G>A (p.Val2389Met) rs142869943 0.00056
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590 0.00056
NM_018055.5(NODAL):c.972G>A (p.Leu324=) rs143903715 0.00056
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00056
NM_020297.4(ABCC9):c.2238-1G>A rs141281214 0.00056
NM_020919.4(ALS2):c.4416G>A (p.Thr1472=) rs200202953 0.00056
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506 0.00056
NM_052813.5(CARD9):c.960G>A (p.Glu320=) rs148158774 0.00056
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00056
NM_138711.6(PPARG):c.348T>C (p.Ala116=) rs147975759 0.00056
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021 0.00055
NM_000506.5(F2):c.1464G>A (p.Thr488=) rs146742525 0.00055
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=) rs143475751 0.00055
NM_002778.4(PSAP):c.41-13G>C rs138010978 0.00055
NM_003982.4(SLC7A7):c.234C>T (p.Val78=) rs139776370 0.00055
NM_004239.4(TRIP11):c.9C>T (p.Ser3=) rs148398142 0.00055
NM_004304.5(ALK):c.469C>T (p.Pro157Ser) rs74774946 0.00055
NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val) rs140272085 0.00055
NM_012213.3(MLYCD):c.1236C>T (p.Arg412=) rs370278897 0.00055
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842 0.00055
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met) rs72646510 0.00055
NM_194318.4(B3GLCT):c.288C>T (p.Leu96=) rs9542305 0.00055
NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys) rs35658131 0.00055
NM_000079.4(CHRNA1):c.1293C>T (p.Leu431=) rs146899588 0.00054
NM_000350.3(ABCA4):c.981C>T (p.Pro327=) rs61753057 0.00054
NM_000360.4(TH):c.897C>T (p.Phe299=) rs76719766 0.00054
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302 0.00054
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=) rs200529923 0.00054
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=) rs144562471 0.00054
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 0.00054
NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser) rs150576530 0.00054
NM_004320.6(ATP2A1):c.1560C>T (p.Gly520=) rs138565447 0.00054
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=) rs148868283 0.00054
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449 0.00054
NM_014244.5(ADAMTS2):c.1083T>C (p.Asp361=) rs150079799 0.00054
NM_015627.3(LDLRAP1):c.396C>T (p.Ile132=) rs369497122 0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208 0.00053
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=) rs115750405 0.00053
NM_000212.3(ITGB3):c.1299C>T (p.Pro433=) rs200857868 0.00053
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=) rs63750330 0.00053
NM_000417.3(IL2RA):c.656-14T>A rs74162097 0.00053
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000540.3(RYR1):c.12880A>G (p.Thr4294Ala) rs1003914966 0.00053
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862 0.00053
NM_000709.4(BCKDHA):c.289-5C>T rs200646708 0.00053
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_001035.3(RYR2):c.1548T>C (p.Asp516=) rs146129084 0.00053
NM_001089.3(ABCA3):c.753C>T (p.Ile251=) rs146161376 0.00053
NM_001161352.2(KCNMA1):c.3147+15T>C rs145048715 0.00053
NM_006892.4(DNMT3B):c.143-8C>T rs200349528 0.00053
NM_014249.4(NR2E3):c.455C>T (p.Pro152Leu) rs371853056 0.00053
NM_014874.4(MFN2):c.756C>T (p.Asn252=) rs137960129 0.00053
NM_020366.4(RPGRIP1):c.3171C>T (p.His1057=) rs201838837 0.00053
NM_020975.6(RET):c.*1430A>G rs775114955 0.00053
NM_021044.4(DHH):c.1134T>A (p.Thr378=) rs144444357 0.00053
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660 0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_000094.4(COL7A1):c.810G>A (p.Thr270=) rs138770708 0.00052
NM_000359.3(TGM1):c.270T>A (p.Pro90=) rs201400055 0.00052
NM_000709.4(BCKDHA):c.1081A>G (p.Ile361Val) rs61736656 0.00052
NM_001164508.2(NEB):c.984C>T (p.Thr328=) rs199969138 0.00052
NM_001875.5(CPS1):c.948-6C>T rs112199960 0.00052
NM_002474.3(MYH11):c.1732A>G (p.Ile578Val) rs111936548 0.00052
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu) rs11568361 0.00052
NM_004076.5(CRYBB3):c.327+1G>T rs143187630 0.00052
NM_014855.3(AP5Z1):c.970-5C>T rs373671779 0.00052
NM_020376.4(PNPLA2):c.903C>T (p.Pro301=) rs141190104 0.00052
NM_133459.4(CCBE1):c.265+8A>C rs181010692 0.00052
NM_000018.4(ACADVL):c.1473A>G (p.Leu491=) rs150518187 0.00051
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_000642.3(AGL):c.1908A>G (p.Ser636=) rs144723143 0.00051
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00051
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=) rs201727684 0.00051
NM_001355436.2(SPTB):c.6174G>A (p.Thr2058=) rs146561732 0.00051
NM_001377.3(DYNC2H1):c.33C>T (p.Leu11=) rs373977008 0.00051
NM_001384474.1(LOXHD1):c.1716C>T (p.Asn572=) rs147582935 0.00051
NM_002667.5(PLN):c.27C>T (p.Arg9=) rs145623013 0.00051
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_014336.5(AIPL1):c.97-15C>T rs190887679 0.00051
NM_020366.4(RPGRIP1):c.2550G>A (p.Gln850=) rs200268506 0.00051
NM_022041.4(GAN):c.730A>G (p.Ile244Val) rs200749953 0.00051
NM_024513.4(FYCO1):c.56-4A>G rs150959263 0.00051
NM_032382.5(COG8):c.249C>G (p.Ala83=) rs144030835 0.00051
NM_080911.3(UNG):c.194C>T (p.Pro65Leu) rs199956941 0.00051
NM_182894.3(VSX2):c.939T>A (p.Ala313=) rs372651860 0.00051
NM_201253.3(CRB1):c.1533C>T (p.Ala511=) rs142224492 0.00051
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) rs141153056 0.00050
NM_000211.5(ITGB2):c.853C>T (p.Arg285Cys) rs137959302 0.00050
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=) rs200610057 0.00050
NM_000520.6(HEXA):c.-4G>A rs766510036 0.00050
NM_000532.5(PCCB):c.603T>C (p.Ala201=) rs141340198 0.00050
NM_000687.4(AHCY):c.390C>T (p.Asp130=) rs143931269 0.00050
NM_000787.4(DBH):c.807C>T (p.Cys269=) rs141816448 0.00050
NM_001008216.2(GALE):c.873+13_873+14insA rs765063773 0.00050
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493 0.00050
NM_001369369.1(FOXN1):c.1184C>T (p.Pro395Leu) rs199739943 0.00050
NM_006493.4(CLN5):c.5C>T (p.Ala2Val) rs146993892 0.00050
NM_017534.6(MYH2):c.87T>C (p.Asn29=) rs148217318 0.00050
NM_020975.6(RET):c.*29C>A rs199639914 0.00050
NM_031433.4(MFRP):c.976-14A>C rs200069261 0.00050
NM_138694.4(PKHD1):c.11507-11C>T rs201478327 0.00050
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met) rs150783688 0.00050
NM_000096.4(CP):c.2554+8C>T rs749646388 0.00049
NM_000170.3(GLDC):c.2328C>T (p.Leu776=) rs149600380 0.00049
NM_000186.4(CFH):c.285T>C (p.Thr95=) rs148182625 0.00049
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser) rs147820869 0.00049
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=) rs56338790 0.00049
NM_001277115.2(DNAH11):c.7294C>T (p.Arg2432Trp) rs188615176 0.00049
NM_001395413.1(POR):c.390C>T (p.Asn130=) rs181837747 0.00049
NM_004132.5(HABP2):c.396C>T (p.Pro132=) rs111397043 0.00049
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=) rs72705400 0.00049
NM_004273.5(CHST3):c.1135C>T (p.Leu379=) rs564028722 0.00049
NM_017739.4(POMGNT1):c.421-7C>A rs189274856 0.00049
NM_017882.3(CLN6):c.487-15C>T rs200775021 0.00049
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784 0.00049
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616 0.00049
NM_000130.5(F5):c.885C>T (p.Thr295=) rs148752831 0.00048
NM_000211.5(ITGB2):c.1413-8G>A rs375743879 0.00048
NM_000246.4(CIITA):c.2651G>A (p.Arg884His) rs374443915 0.00048
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=) rs114687267 0.00048
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000350.3(ABCA4):c.*299G>C rs538804441 0.00048
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001114134.2(EPB42):c.1602G>A (p.Thr534=) rs149742998 0.00048
NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=) rs142199602 0.00048
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=) rs544993852 0.00048
NM_001355436.2(SPTB):c.3479G>A (p.Arg1160His) rs76283214 0.00048
NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp) rs189656371 0.00048
NM_001379610.1(SPINK1):c.33C>T (p.Ala11=) rs147454311 0.00048
NM_004273.5(CHST3):c.348G>T (p.Glu116Asp) rs144885813 0.00048
NM_004415.4(DSP):c.1574+14G>T rs200443042 0.00048
NM_006005.3(WFS1):c.2424C>T (p.Ser808=) rs56035336 0.00048
NM_014049.5(ACAD9):c.195T>C (p.Asn65=) rs144978857 0.00048
NM_014141.6(CNTNAP2):c.2651G>A (p.Arg884Gln) rs758630057 0.00048
NM_014714.4(IFT140):c.1593G>T (p.Gly531=) rs143491016 0.00048
NM_017866.6(TMEM70):c.97C>A (p.Arg33=) rs145329086 0.00048
NM_020376.4(PNPLA2):c.487-8C>T rs201418203 0.00048
NM_025099.6(CTC1):c.2192G>A (p.Arg731Gln) rs201891953 0.00048
NM_052859.4(RFT1):c.520T>C (p.Leu174=) rs149266076 0.00048
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942 0.00047
NM_000057.4(BLM):c.3020-15C>T rs200210516 0.00047
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_000147.5(FUCA1):c.1119A>G (p.Lys373=) rs370453371 0.00047
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=) rs34412477 0.00047
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00047
NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln) rs147630375 0.00047
NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=) rs148188703 0.00047
NM_001164508.2(NEB):c.4198G>A (p.Ala1400Thr) rs113174390 0.00047
NM_001375808.2(LPIN2):c.2443-9C>T rs191749331 0.00047
NM_001457.4(FLNB):c.4978G>A (p.Ala1660Thr) rs142114129 0.00047
NM_002185.5(IL7R):c.152C>T (p.Ser51Leu) rs138482569 0.00047
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_003664.5(AP3B1):c.822C>T (p.Tyr274=) rs112652327 0.00047
NM_004525.3(LRP2):c.7866C>T (p.Asp2622=) rs139514301 0.00047
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173 0.00047
NM_014363.6(SACS):c.10443C>G (p.Leu3481=) rs144087359 0.00047
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=) rs138085418 0.00047
NM_016239.4(MYO15A):c.3203G>T (p.Cys1068Phe) rs189061214 0.00047
NM_020376.4(PNPLA2):c.492C>T (p.Tyr164=) rs147314508 0.00047
NM_022367.4(SEMA4A):c.1215G>T (p.Thr405=) rs151260330 0.00047
NM_032444.4(SLX4):c.3189C>T (p.Gly1063=) rs200742809 0.00047
NM_080424.4(SP110):c.1200C>T (p.Asp400=) rs115361843 0.00047
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000080.4(CHRNE):c.901G>A (p.Val301Met) rs140023380 0.00046
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876 0.00046
NM_000162.5(GCK):c.*11C>T rs200698755 0.00046
NM_000350.3(ABCA4):c.596C>T (p.Ala199Val) rs145065936 0.00046
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=) rs373282364 0.00046
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410 0.00046
NM_001134363.3(RBM20):c.1659G>A (p.Ser553=) rs375626512 0.00046
NM_001457.4(FLNB):c.4495G>A (p.Asp1499Asn) rs150445941 0.00046
NM_002435.3(MPI):c.670+11T>C rs144118442 0.00046
NM_002454.3(MTRR):c.540G>A (p.Val180=) rs149037732 0.00046
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=) rs112990531 0.00046
NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu) rs199632510 0.00046
NM_015192.4(PLCB1):c.627A>G (p.Pro209=) rs151006778 0.00046
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926 0.00046
NM_020320.5(RARS2):c.78A>C (p.Thr26=) rs138360045 0.00046
NM_020533.3(MCOLN1):c.413C>T (p.Ala138Val) rs142259322 0.00046
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559 0.00046
NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=) rs200387635 0.00046
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053 0.00045
NM_000059.4(BRCA2):c.7976+12G>A rs81002827 0.00045
NM_000098.3(CPT2):c.321A>G (p.Lys107=) rs147846614 0.00045
NM_000154.2(GALK1):c.66G>A (p.Glu22=) rs367558510 0.00045
NM_000222.3(KIT):c.200C>G (p.Thr67Ser) rs144933028 0.00045
NM_000275.3(OCA2):c.1762C>T (p.Arg588Trp) rs150711896 0.00045
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=) rs139435774 0.00045
NM_000553.6(WRN):c.3738G>A (p.Leu1246=) rs147117969 0.00045
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598 0.00045
NM_001042432.2(CLN3):c.831G>A (p.Val277=) rs1142183 0.00045
NM_001048174.2(MUTYH):c.914-9C>T rs3219488 0.00045
NM_001367624.2(ZNF469):c.3321G>A (p.Arg1107=) rs763826959 0.00045
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=) rs149862905 0.00045
NM_002485.5(NBN):c.-26G>A rs201392451 0.00045
NM_003849.4(SUCLG1):c.384C>T (p.Ala128=) rs139731592 0.00045
NM_004035.7(ACOX1):c.1344G>A (p.Val448=) rs753969664 0.00045
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser) rs140170914 0.00045
NM_004525.3(LRP2):c.8901C>G (p.Pro2967=) rs145179638 0.00045
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala) rs138534976 0.00045
NM_006892.4(DNMT3B):c.2142G>A (p.Leu714=) rs143847495 0.00045
NM_014908.4(DOLK):c.525T>G (p.Val175=) rs200278288 0.00045
NM_015506.3(MMACHC):c.277-4C>G rs199889403 0.00045
NM_016938.5(EFEMP2):c.99C>T (p.Pro33=) rs140946753 0.00045
NM_020297.4(ABCC9):c.75T>C (p.Phe25=) rs201972673 0.00045
NM_022369.4(STRA6):c.388G>A (p.Ala130Thr) rs141477248 0.00045
NM_025137.4(SPG11):c.1605C>T (p.Ala535=) rs117683234 0.00045
NM_025137.4(SPG11):c.6632G>A (p.Arg2211His) rs144165094 0.00045
NM_053025.4(MYLK):c.999G>A (p.Pro333=) rs13319347 0.00045
NM_199242.3(UNC13D):c.2368-5C>T rs180768962 0.00045
NM_000051.4(ATM):c.3342G>A (p.Lys1114=) rs138393322 0.00044
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793 0.00044
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=) rs146522699 0.00044
NM_001083116.3(PRF1):c.368G>A (p.Arg123His) rs139336186 0.00044
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00044
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg) rs200474297 0.00044
NM_001164508.2(NEB):c.23418G>T (p.Gln7806His) rs765789028 0.00044
NM_001166114.2(PNPLA6):c.3914-8G>A rs374861157 0.00044
NM_002863.5(PYGL):c.147C>T (p.Thr49=) rs139338050 0.00044
NM_003560.4(PLA2G6):c.966C>T (p.His322=) rs144033740 0.00044
NM_003896.4(ST3GAL5):c.389C>T (p.Ala130Val) rs140019292 0.00044
NM_004006.3(DMD):c.5586+9G>A rs200025478 0.00044
NM_004525.3(LRP2):c.2320+9G>A rs368933798 0.00044
NM_006892.4(DNMT3B):c.2529C>T (p.Phe843=) rs147402935 0.00044
NM_014244.5(ADAMTS2):c.2892C>T (p.Pro964=) rs546361762 0.00044
NM_016630.7(SPG21):c.846G>A (p.Ala282=) rs146986015 0.00044
NM_020451.3(SELENON):c.1500+7G>A rs200724231 0.00044
NM_032520.5(GNPTG):c.702T>C (p.Pro234=) rs532275192 0.00044
NM_032601.4(MCEE):c.66C>T (p.Pro22=) rs151148238 0.00044
NM_033305.3(VPS13A):c.2667+11C>T rs375898960 0.00044
NM_138413.4(HOGA1):c.237C>T (p.Gly79=) rs148094180 0.00044
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu) rs141360909 0.00044
NM_206937.2(LIG4):c.13C>A (p.Gln5Lys) rs143590752 0.00044
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) rs142969817 0.00043
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00043
NM_000254.3(MTR):c.1080A>G (p.Leu360=) rs141861479 0.00043
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=) rs146617004 0.00043
NM_000709.4(BCKDHA):c.288C>T (p.His96=) rs148571328 0.00043
NM_001277115.2(DNAH11):c.569A>T (p.Tyr190Phe) rs201793112 0.00043
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886 0.00043
NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=) rs202047865 0.00043
NM_001457.4(FLNB):c.1196A>G (p.Lys399Arg) rs145673747 0.00043
NM_001457.4(FLNB):c.4058C>G (p.Thr1353Ser) rs142718547 0.00043
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly) rs145947380 0.00043
NM_002303.6(LEPR):c.1246C>T (p.His416Tyr) rs144710810 0.00043
NM_003640.5(ELP1):c.948G>A (p.Pro316=) rs148917889 0.00043
NM_004525.3(LRP2):c.6553C>T (p.Leu2185Phe) rs143884041 0.00043
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys) rs143433500 0.00043
NM_014714.4(IFT140):c.3542C>T (p.Ser1181Leu) rs145814071 0.00043
NM_014714.4(IFT140):c.3684C>T (p.Ser1228=) rs146464282 0.00043
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser) rs172149856 0.00043
NM_020247.5(COQ8A):c.258A>C (p.Ala86=) rs137872711 0.00043
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825 0.00043
NM_024570.4(RNASEH2B):c.756A>G (p.Ser252=) rs200721645 0.00043
NM_032520.5(GNPTG):c.741+6G>A rs371060844 0.00043
NM_033337.3(CAV3):c.417C>T (p.Val139=) rs147250678 0.00043
NM_052813.5(CARD9):c.801C>T (p.Ser267=) rs143884319 0.00043
NM_000260.4(MYO7A):c.186G>A (p.Thr62=) rs368267301 0.00042
NM_000360.4(TH):c.363G>A (p.Pro121=) rs370429316 0.00042
NM_000426.4(LAMA2):c.4176+9C>T rs117116822 0.00042
NM_001035.3(RYR2):c.463+14G>A rs776302587 0.00042
NM_001122769.3(LCA5):c.1642C>T (p.Pro548Ser) rs185347145 0.00042
NM_001164508.2(NEB):c.2107-8C>T rs369441230 0.00042
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099 0.00042
NM_001182.5(ALDH7A1):c.615C>T (p.Asn205=) rs369380330 0.00042
NM_001277115.2(DNAH11):c.8521A>G (p.Ser2841Gly) rs199789835 0.00042
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055 0.00042
NM_001378615.1(CC2D2A):c.*1T>A rs199945435 0.00042
NM_004415.4(DSP):c.3123C>T (p.Leu1041=) rs149929637 0.00042
NM_005535.3(IL12RB1):c.1737G>A (p.Pro579=) rs371461366 0.00042
NM_005609.4(PYGM):c.1692C>T (p.Phe564=) rs116812032 0.00042
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) rs201907325 0.00042
NM_020366.4(RPGRIP1):c.1078-9C>A rs371312060 0.00042
NM_024312.5(GNPTAB):c.2625G>A (p.Val875=) rs141529327 0.00042
NM_053025.4(MYLK):c.4195G>A (p.Glu1399Lys) rs181663420 0.00042
NM_182760.4(SUMF1):c.519A>G (p.Ala173=) rs146050361 0.00042
NM_000018.4(ACADVL):c.1077+15C>T rs202237278 0.00041
NM_000037.4(ANK1):c.4156T>C (p.Tyr1386His) rs201439151 0.00041
NM_000137.4(FAH):c.243G>A (p.Ala81=) rs36122289 0.00041
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg) rs150395645 0.00041
NM_000249.4(MLH1):c.702G>A (p.Glu234=) rs35908749 0.00041
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965 0.00041
NM_000293.3(PHKB):c.305+11G>T rs368293023 0.00041
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=) rs61754033 0.00041
NM_000396.4(CTSK):c.684C>T (p.Pro228=) rs142097792 0.00041
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299 0.00041
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln) rs35297901 0.00041
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=) rs147369374 0.00041
NM_001355436.2(SPTB):c.1303G>C (p.Glu435Gln) rs149521594 0.00041
NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp) rs377167949 0.00041
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=) rs199550149 0.00041
NM_002863.5(PYGL):c.1920G>A (p.Lys640=) rs140296036 0.00041
NM_003331.5(TYK2):c.193+14G>A rs199931972 0.00041
NM_003721.4(RFXANK):c.187+13C>T rs201778172 0.00041
NM_004525.3(LRP2):c.12421G>A (p.Val4141Ile) rs150382715 0.00041
NM_005159.4(ACTC1):c.*1781C>T rs560065427 0.00041
NM_005546.4(ITK):c.1455C>T (p.Ala485=) rs201568204 0.00041
NM_006892.4(DNMT3B):c.1035C>T (p.Ile345=) rs150148922 0.00041
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399 0.00041
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=) rs147732875 0.00041
NM_014049.5(ACAD9):c.152A>T (p.Lys51Ile) rs149931573 0.00041
NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=) rs143856702 0.00041
NM_017636.4(TRPM4):c.308A>G (p.Tyr103Cys) rs144781529 0.00041
NM_017882.3(CLN6):c.822G>A (p.Ala274=) rs151186473 0.00041
NM_025243.4(SLC19A3):c.613A>G (p.Arg205Gly) rs199558186 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=) rs34796823 0.00041
NM_139343.3(BIN1):c.1629T>G (p.Ala543=) rs143258043 0.00041
NM_175914.5(HNF4A):c.726G>A (p.Val242=) rs145280017 0.00041
NM_000141.5(FGFR2):c.2190C>T (p.Asn730=) rs55637244 0.00040
NM_000359.3(TGM1):c.2160C>T (p.Thr720=) rs139387079 0.00040
NM_000507.4(FBP1):c.670G>A (p.Val224Ile) rs140222720 0.00040
NM_000527.5(LDLR):c.2055G>A (p.Pro685=) rs149126953 0.00040
NM_000787.4(DBH):c.849C>T (p.Cys283=) rs78200745 0.00040
NM_000817.3(GAD1):c.682A>C (p.Ile228Leu) rs45566933 0.00040
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=) rs201206239 0.00040
NM_001182.5(ALDH7A1):c.494G>C (p.Gly165Ala) rs375491094 0.00040
NM_001875.5(CPS1):c.4089G>T (p.Leu1363=) rs368890059 0.00040
NM_002529.4(NTRK1):c.1474G>A (p.Glu492Lys) rs144901788 0.00040
NM_002617.4(PEX10):c.816G>T (p.Leu272=) rs144440263 0.00040
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu) rs147948449 0.00040
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=) rs201087979 0.00040
NM_022367.4(SEMA4A):c.405T>C (p.Asn135=) rs56271605 0.00040
NM_022464.5(SIL1):c.933G>A (p.Gly311=) rs61744666 0.00040
NM_032634.4(PIGO):c.1277C>A (p.Ala426Asp) rs147098410 0.00040
NM_052813.5(CARD9):c.12C>T (p.Tyr4=) rs35051231 0.00040
NM_000017.4(ACADS):c.624+8C>T rs371550264 0.00039
NM_000037.4(ANK1):c.2167C>A (p.His723Asn) rs150899388 0.00039
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His) rs146309264 0.00039
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427 0.00039
NM_000158.4(GBE1):c.1237-15C>T rs376809475 0.00039
NM_000235.4(LIPA):c.891C>T (p.Ser297=) rs145066614 0.00039
NM_000350.3(ABCA4):c.5312+11T>C rs769863517 0.00039
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys) rs192317605 0.00039
NM_000439.5(PCSK1):c.1096-10C>T rs373951075 0.00039
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197 0.00039
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His) rs200307392 0.00039
NM_001166114.2(PNPLA6):c.3003C>T (p.Gly1001=) rs145459571 0.00039
NM_001277115.2(DNAH11):c.9449G>A (p.Arg3150Gln) rs181785201 0.00039
NM_001377.3(DYNC2H1):c.2244C>T (p.His748=) rs373707570 0.00039
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser) rs150485422 0.00039
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732 0.00039
NM_003465.3(CHIT1):c.605+10A>T rs368307246 0.00039
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=) rs146720775 0.00039
NM_004525.3(LRP2):c.9363C>T (p.Gly3121=) rs146783211 0.00039
NM_014141.6(CNTNAP2):c.1777+13T>G rs188140291 0.00039
NM_017668.3(NDE1):c.948-6833A>G rs111858392 0.00039
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226 0.00039
NM_138694.4(PKHD1):c.7215+13G>T rs562612275 0.00039
NM_144773.4(PROKR2):c.889G>A (p.Val297Ile) rs139399061 0.00039
NM_000051.4(ATM):c.6795C>T (p.Phe2265=) rs3218699 0.00038
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245 0.00038
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr) rs61731996 0.00038
NM_000130.5(F5):c.1391C>T (p.Thr464Ile) rs141768227 0.00038
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222 0.00038
NM_000254.3(MTR):c.1977A>G (p.Lys659=) rs144767461 0.00038
NM_000350.3(ABCA4):c.1240-8G>C rs185225547 0.00038
NM_000419.5(ITGA2B):c.207C>T (p.Gly69=) rs375882355 0.00038
NM_000429.3(MAT1A):c.170-12G>A rs200462189 0.00038
NM_000466.3(PEX1):c.1360-4G>T rs199716270 0.00038
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_000709.4(BCKDHA):c.63C>T (p.Ala21=) rs140322984 0.00038
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869 0.00038
NM_001160372.4(TRAPPC9):c.2796C>T (p.Ala932=) rs145607512 0.00038
NM_001199397.3(NEK1):c.3567C>T (p.Asn1189=) rs200710438 0.00038
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=) rs143477661 0.00038
NM_001368894.2(PAX6):c.753G>A (p.Val251=) rs145329506 0.00038
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu) rs147615538 0.00038
NM_001377.3(DYNC2H1):c.5511C>T (p.Asp1837=) rs201953670 0.00038
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His) rs141825182 0.00038
NM_003640.5(ELP1):c.1911T>C (p.Val637=) rs369645371 0.00038
NM_004132.5(HABP2):c.207C>T (p.Tyr69=) rs139478887 0.00038
NM_006031.6(PCNT):c.7259C>T (p.Pro2420Leu) rs144633170 0.00038
NM_006348.5(COG5):c.1750-14T>G rs199592702 0.00038
NM_012203.2(GRHPR):c.666C>T (p.Thr222=) rs146227450 0.00038
NM_014714.4(IFT140):c.3693G>A (p.Thr1231=) rs144028766 0.00038
NM_014855.3(AP5Z1):c.1806-15C>T rs201620155 0.00038
NM_015506.3(MMACHC):c.691T>C (p.Leu231=) rs373198842 0.00038
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys) rs147135294 0.00038
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro) rs145677716 0.00038
NM_020919.4(ALS2):c.1641G>A (p.Arg547=) rs34122078 0.00038
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala) rs533729683 0.00038
NM_022367.4(SEMA4A):c.84G>A (p.Thr28=) rs149711133 0.00038
NM_022436.3(ABCG5):c.1365C>T (p.Asp455=) rs141016088 0.00038
NM_052989.3(IFT122):c.829C>T (p.Arg277Trp) rs61744448 0.00038
NM_080911.3(UNG):c.183G>A (p.Pro61=) rs147490205 0.00038
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660 0.00038
NM_152383.5(DIS3L2):c.1205-13C>T rs116327839 0.00038
NM_000027.4(AGA):c.885G>A (p.Lys295=) rs34019119 0.00037
NM_000096.4(CP):c.938C>T (p.Thr313Ile) rs144401501 0.00037
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val) rs142217479 0.00037
NM_000143.3(FH):c.*266A>G rs113667027 0.00037
NM_000154.2(GALK1):c.747G>A (p.Ala249=) rs140053358 0.00037
NM_000179.3(MSH6):c.1449G>T (p.Val483=) rs35590297 0.00037
NM_000304.4(PMP22):c.-34-5C>T rs375105159 0.00037
NM_000320.3(QDPR):c.450C>T (p.Tyr150=) rs140949360 0.00037
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171 0.00037
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=) rs143263315 0.00037
NM_000426.4(LAMA2):c.2857-13C>T rs201188972 0.00037
NM_000426.4(LAMA2):c.4944C>T (p.Asn1648=) rs111632017 0.00037
NM_000536.4(RAG2):c.477C>T (p.Arg159=) rs141659100 0.00037
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=) rs148055736 0.00037
NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met) rs145672251 0.00037
NM_005535.3(IL12RB1):c.261C>T (p.Cys87=) rs373545812 0.00037
NM_007194.4(CHEK2):c.*18C>T rs17884403 0.00037
NM_014140.4(SMARCAL1):c.2641A>C (p.Lys881Gln) rs190386780 0.00037
NM_014391.3(ANKRD1):c.313C>T (p.Pro105Ser) rs148189486 0.00037
NM_018648.4(NOP10):c.55-9C>T rs72720799 0.00037
NM_138694.4(PKHD1):c.5381-12T>C rs143682303 0.00037
NM_213599.3(ANO5):c.720G>T (p.Leu240=) rs147121216 0.00037
NM_000026.4(ADSL):c.363G>A (p.Leu121=) rs138203195 0.00036
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=) rs143139259 0.00036
NM_000135.4(FANCA):c.3981C>T (p.His1327=) rs141278771 0.00036
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048 0.00036
NM_000211.5(ITGB2):c.2145C>T (p.Ile715=) rs144590448 0.00036
NM_000258.3(MYL3):c.307+15C>T rs184025552 0.00036
NM_000277.3(PAH):c.609C>T (p.Cys203=) rs1801147 0.00036
NM_000419.5(ITGA2B):c.487T>C (p.Leu163=) rs141497408 0.00036
NM_000540.3(RYR1):c.11439+9G>A rs369650355 0.00036
NM_000751.3(CHRND):c.198+14C>T rs199538903 0.00036
NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=) rs104895260 0.00036
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=) rs145412880 0.00036
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu) rs371951525 0.00036
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg) rs374409854 0.00036
NM_001277115.2(DNAH11):c.6302A>G (p.Asn2101Ser) rs201618995 0.00036
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His) rs74574054 0.00036
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421 0.00036
NM_001887.4(CRYBB1):c.744A>G (p.Thr248=) rs142495368 0.00036
NM_001909.5(CTSD):c.827+13T>C rs369602025 0.00036
NM_001953.5(TYMP):c.1028T>G (p.Phe343Cys) rs762630777 0.00036
NM_001953.5(TYMP):c.995C>T (p.Ala332Val) rs778306525 0.00036
NM_002857.4(PEX19):c.402T>C (p.Ser134=) rs139828188 0.00036
NM_003282.4(TNNI2):c.54G>C (p.Leu18=) rs181679318 0.00036
NM_003640.5(ELP1):c.2436C>T (p.Asp812=) rs113967847 0.00036
NM_003850.3(SUCLA2):c.1350G>A (p.Ala450=) rs144969057 0.00036
NM_004937.3(CTNS):c.94G>A (p.Val32Ile) rs146684402 0.00036
NM_005138.3(SCO2):c.237G>A (p.Arg79=) rs150485659 0.00036
NM_006005.3(WFS1):c.-141A>G rs373287522 0.00036
NM_006348.5(COG5):c.264A>G (p.Ala88=) rs113660545 0.00036
NM_012472.6(DNAAF11):c.1391C>T (p.Pro464Leu) rs139131485 0.00036
NM_014141.6(CNTNAP2):c.3247+15A>G rs201602527 0.00036
NM_014236.4(GNPAT):c.1095T>C (p.Phe365=) rs139272614 0.00036
NM_016123.4(IRAK4):c.720T>C (p.Cys240=) rs144854858 0.00036
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys) rs200128474 0.00036
NM_020919.4(ALS2):c.1627G>A (p.Asp543Asn) rs201161419 0.00036
NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val) rs145602856 0.00036
NM_024996.7(GFM1):c.1032C>T (p.Asn344=) rs373952002 0.00036
NM_025099.6(CTC1):c.1734C>T (p.Ala578=) rs374985738 0.00036
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val) rs45627337 0.00036
NM_000037.4(ANK1):c.229-11A>G rs372152994 0.00035
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049 0.00035
NM_000130.5(F5):c.4835A>T (p.Asp1612Val) rs141589936 0.00035
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304 0.00035
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=) rs150892928 0.00035
NM_000211.5(ITGB2):c.742-15A>G rs199665785 0.00035
NM_000243.3(MEFV):c.1260+10C>T rs104895137 0.00035
NM_000243.3(MEFV):c.372C>T (p.Pro124=) rs104895078 0.00035
NM_000246.4(CIITA):c.456G>A (p.Pro152=) rs151317882 0.00035
NM_000282.4(PCCA):c.2037C>T (p.Asp679=) rs146870931 0.00035
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324 0.00035
NM_000325.6(PITX2):c.862C>T (p.Leu288=) rs139401187 0.00035
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys) rs150851401 0.00035
NM_000455.5(STK11):c.1284G>A (p.Ser428=) rs369097329 0.00035
NM_000521.4(HEXB):c.1248G>A (p.Ala416=) rs137915238 0.00035
NM_001035.3(RYR2):c.*399A>G rs184537159 0.00035
NM_001040108.2(MLH3):c.3440A>T (p.Asn1147Ile) rs142124529 0.00035
NM_001083116.3(PRF1):c.1140G>A (p.Pro380=) rs144926997 0.00035
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr) rs142454476 0.00035
NM_001242957.3(MAK):c.1405G>A (p.Glu469Lys) rs149006687 0.00035
NM_001277115.2(DNAH11):c.6274-5T>C rs74365849 0.00035
NM_001330078.2(NRXN1):c.4392T>C (p.His1464=) rs112536447 0.00035
NM_001875.5(CPS1):c.1918G>T (p.Ala640Ser) rs142693704 0.00035
NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn) rs150024227 0.00035
NM_004560.4(ROR2):c.730C>T (p.Arg244Trp) rs148340413 0.00035
NM_007374.3(SIX6):c.637C>T (p.Pro213Ser) rs201560655 0.00035
NM_014290.3(TDRD7):c.2079+7C>T rs201253435 0.00035
NM_014363.6(SACS):c.3144A>G (p.Val1048=) rs3751369 0.00035
NM_052813.5(CARD9):c.406C>T (p.Leu136=) rs143393026 0.00035
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr) rs143979330 0.00035
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys) rs144042993 0.00035
NM_178138.6(LHX3):c.964G>A (p.Ala322Thr) rs201356862 0.00035
NM_198525.3(KIF7):c.3914G>A (p.Arg1305Gln) rs138993311 0.00035
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041 0.00034
NM_000081.4(LYST):c.2946T>C (p.Tyr982=) rs145892183 0.00034
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000222.3(KIT):c.878A>G (p.Asn293Ser) rs137909416 0.00034
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001 0.00034
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) rs371142158 0.00034
NM_000293.3(PHKB):c.3216G>A (p.Ala1072=) rs137869198 0.00034
NM_000360.4(TH):c.1255G>A (p.Val419Met) rs184106392 0.00034
NM_000426.4(LAMA2):c.4926A>G (p.Thr1642=) rs62421010 0.00034
NM_000466.3(PEX1):c.2584-9del rs886062504 0.00034
NM_000466.3(PEX1):c.939T>C (p.His313=) rs199647157 0.00034
NM_000540.3(RYR1):c.10938-9C>T rs201976186 0.00034
NM_000787.4(DBH):c.1025-6T>A rs199926239 0.00034
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His) rs150139276 0.00034
NM_001277115.2(DNAH11):c.1749T>A (p.Val583=) rs368294823 0.00034
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr) rs138437526 0.00034
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652 0.00034
NM_001377.3(DYNC2H1):c.8293T>G (p.Phe2765Val) rs199503535 0.00034
NM_001395413.1(POR):c.1095G>A (p.Thr365=) rs150414675 0.00034
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr) rs375998236 0.00034
NM_003282.4(TNNI2):c.387G>A (p.Ser129=) rs139399106 0.00034
NM_004453.4(ETFDH):c.572G>A (p.Gly191Asp) rs147219158 0.00034
NM_004525.3(LRP2):c.11322G>A (p.Ser3774=) rs141727314 0.00034
NM_005546.4(ITK):c.138+13T>C rs200603754 0.00034
NM_005677.4(COLQ):c.561C>T (p.Ser187=) rs149370622 0.00034
NM_006446.5(SLCO1B1):c.1331+9A>G rs76647672 0.00034
NM_006790.3(MYOT):c.120T>A (p.Ile40=) rs139254363 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_014714.4(IFT140):c.369+12C>T rs192986766 0.00034
NM_017668.3(NDE1):c.948-9293G>A rs374454501 0.00034
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=) rs138330966 0.00034
NM_032520.5(GNPTG):c.264C>T (p.Asn88=) rs145313679 0.00034
NM_052859.4(RFT1):c.1356C>T (p.Arg452=) rs113829901 0.00034
NM_052989.3(IFT122):c.1553G>A (p.Arg518His) rs138223055 0.00034
NM_152564.5(VPS13B):c.10867+11A>G rs376656751 0.00034
NM_153033.5(KCTD7):c.273C>T (p.Ser91=) rs139585796 0.00034
NM_182943.3(PLOD2):c.2121+14T>C rs376009508 0.00034
NM_199242.3(UNC13D):c.444G>A (p.Gly148=) rs373551579 0.00034
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00033
NM_000302.4(PLOD1):c.1428G>A (p.Lys476=) rs139869965 0.00033
NM_000447.3(PSEN2):c.690C>G (p.Ala230=) rs145010538 0.00033
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712 0.00033
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) rs145272777 0.00033
NM_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930 0.00033
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) rs138059405 0.00033
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
NM_003764.4(STX11):c.589G>A (p.Val197Met) rs141499372 0.00033
NM_014290.3(TDRD7):c.444C>T (p.Asn148=) rs144510531 0.00033
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=) rs141608712 0.00033
NM_024513.4(FYCO1):c.4321C>A (p.Pro1441Thr) rs185127002 0.00033
NM_032409.3(PINK1):c.1728A>G (p.Ser576=) rs149994404 0.00033
NM_138694.4(PKHD1):c.5731C>T (p.Arg1911Cys) rs149553146 0.00033
NM_139057.4(ADAMTS17):c.1353G>A (p.Thr451=) rs143896591 0.00033
NM_153006.3(NAGS):c.246G>A (p.Pro82=) rs747154237 0.00033
NM_000035.4(ALDOB):c.681C>T (p.Thr227=) rs61757689 0.00032
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945 0.00032
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418 0.00032
NM_000312.4(PROC):c.1299C>T (p.Gly433=) rs151319700 0.00032
NM_000410.4(HFE):c.68G>A (p.Arg23His) rs148161858 0.00032
NM_000481.4(AMT):c.101G>A (p.Arg34His) rs138259479 0.00032
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=) rs147245615 0.00032
NM_001256545.2(MEGF10):c.1841-5T>C rs372378202 0.00032
NM_001360.3(DHCR7):c.927C>A (p.Gly309=) rs149974099 0.00032
NM_001457.4(FLNB):c.4061+4G>A rs370061963 0.00032
NM_001457.4(FLNB):c.5134G>A (p.Val1712Met) rs138141099 0.00032
NM_002693.3(POLG):c.2071-14T>G rs150088708 0.00032
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val) rs551708243 0.00032
NM_005535.3(IL12RB1):c.930G>A (p.Ser310=) rs144647048 0.00032
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys) rs104895016 0.00032
NM_012179.4(FBXO7):c.277T>G (p.Ser93Ala) rs143041875 0.00032
NM_014363.6(SACS):c.7725A>T (p.Ile2575=) rs200735789 0.00032
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp) rs150036969 0.00032
NM_025137.4(SPG11):c.257+13G>A rs201936649 0.00032
NM_025137.4(SPG11):c.257+15A>C rs538988623 0.00032
NM_032634.4(PIGO):c.969T>G (p.Leu323=) rs142658052 0.00032
NM_052989.3(IFT122):c.2643C>T (p.Ala881=) rs150055466 0.00032
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) rs368822172 0.00032
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala) rs142205860 0.00032
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=) rs149176010 0.00032
NM_206937.2(LIG4):c.1983T>C (p.Asp661=) rs199638675 0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr) rs138867099 0.00031
NM_000081.4(LYST):c.2313G>A (p.Gln771=) rs147220685 0.00031
NM_000186.4(CFH):c.2957-7A>G rs190778135 0.00031
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079 0.00031
NM_000350.3(ABCA4):c.2383-12G>A rs368548294 0.00031
NM_000481.4(AMT):c.825T>A (p.Asn275Lys) rs144241950 0.00031
NM_000506.5(F2):c.234G>A (p.Thr78=) rs151121282 0.00031
NM_000521.4(HEXB):c.918G>C (p.Leu306=) rs140607282 0.00031
NM_000540.3(RYR1):c.7876C>T (p.Leu2626=) rs145446438 0.00031
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val) rs146315101 0.00031
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_001134363.3(RBM20):c.3648C>T (p.Ser1216=) rs554167951 0.00031
NM_001164508.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878 0.00031
NM_001277115.2(DNAH11):c.5132A>G (p.Gln1711Arg) rs189432084 0.00031
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_001457.4(FLNB):c.7041C>A (p.Phe2347Leu) rs139325959 0.00031
NM_002185.5(IL7R):c.1316C>G (p.Thr439Ser) rs148931962 0.00031
NM_002292.4(LAMB2):c.2922G>C (p.Gly974=) rs145465720 0.00031
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser) rs113696032 0.00031
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu) rs148621523 0.00031
NM_002529.4(NTRK1):c.482G>A (p.Arg161His) rs150271893 0.00031
NM_003331.5(TYK2):c.2985C>T (p.Ile995=) rs147442318 0.00031
NM_004525.3(LRP2):c.1731G>A (p.Arg577=) rs142698246 0.00031
NM_014363.6(SACS):c.10008A>G (p.Lys3336=) rs148971954 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_014714.4(IFT140):c.2586C>T (p.Ala862=) rs148557575 0.00031
NM_017636.4(TRPM4):c.1242T>C (p.Phe414=) rs200633475 0.00031
NM_022124.6(CDH23):c.*141G>A rs535544696 0.00031
NM_022356.4(P3H1):c.1720+4G>A rs371232413 0.00031
NM_024079.5(ALG8):c.1506C>T (p.Gly502=) rs148820351 0.00031
NM_025099.6(CTC1):c.1207-4C>T rs369904656 0.00031
NM_139343.3(BIN1):c.906C>T (p.Gly302=) rs371258305 0.00031
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=) rs886062952 0.00031
NM_152564.5(VPS13B):c.885C>T (p.Gly295=) rs143112539 0.00031
NM_182760.4(SUMF1):c.891C>T (p.Asn297=) rs143754187 0.00031
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu) rs150463407 0.00031
NM_198525.3(KIF7):c.2049G>A (p.Gly683=) rs141856439 0.00031
NM_000051.4(ATM):c.7044G>A (p.Thr2348=) rs140104789 0.00030
NM_000212.3(ITGB3):c.285C>T (p.Leu95=) rs151121691 0.00030
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018 0.00030
NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=) rs200806435 0.00030
NM_000512.5(GALNS):c.121-4G>A rs200008960 0.00030
NM_000687.4(AHCY):c.882C>G (p.Ala294=) rs376464023 0.00030
NM_001161352.2(KCNMA1):c.3150G>A (p.Thr1050=) rs75116272 0.00030
NM_001355436.2(SPTB):c.1048G>A (p.Val350Met) rs141973081 0.00030
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016 0.00030
NM_001457.4(FLNB):c.6928A>G (p.Ile2310Val) rs143005300 0.00030
NM_001953.5(TYMP):c.1443G>A (p.Gln481=) rs377497287 0.00030
NM_003331.5(TYK2):c.648G>A (p.Pro216=) rs142642403 0.00030
NM_004525.3(LRP2):c.3551-9C>A rs373882047 0.00030
NM_005220.3(DLX3):c.252G>A (p.Ser84=) rs139226711 0.00030
NM_006005.3(WFS1):c.2436C>T (p.Ser812=) rs142630687 0.00030
NM_006206.6(PDGFRA):c.276G>A (p.Ala92=) rs140725151 0.00030
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=) rs141661592 0.00030
NM_014363.6(SACS):c.3042A>G (p.Leu1014=) rs141982796 0.00030
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met) rs184436336 0.00030
NM_138413.4(HOGA1):c.185A>T (p.His62Leu) rs150812556 0.00030
NM_144599.5(NIPA1):c.21A>G (p.Ala7=) rs749414711 0.00030
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=) rs141637316 0.00030
NM_152564.5(VPS13B):c.4452T>C (p.Asn1484=) rs148033080 0.00030
NM_000018.4(ACADVL):c.1678+15C>T rs371402802 0.00029
NM_000037.4(ANK1):c.3984+9A>G rs369984591 0.00029
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp) rs201607149 0.00029
NM_000071.3(CBS):c.1479G>A (p.Thr493=) rs143225442 0.00029
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln) rs150953050 0.00029
NM_000081.4(LYST):c.3394-14T>C rs372892911 0.00029
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046 0.00029
NM_000130.5(F5):c.1158A>G (p.Gln386=) rs148623862 0.00029
NM_000130.5(F5):c.5490G>A (p.Leu1830=) rs149092241 0.00029
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu) rs149551759 0.00029
NM_000135.4(FANCA):c.2637C>T (p.Ala879=) rs149435806 0.00029
NM_000135.4(FANCA):c.577C>G (p.Leu193Val) rs141861208 0.00029
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606 0.00029
NM_000141.5(FGFR2):c.*674G>T rs566155088 0.00029
NM_000262.3(NAGA):c.993G>T (p.Leu331=) rs147853281 0.00029
NM_000293.3(PHKB):c.1364-10T>C rs199899291 0.00029
NM_000306.4(POU1F1):c.337C>T (p.Arg113Trp) rs138356138 0.00029
NM_000325.6(PITX2):c.639A>T (p.Ser213=) rs141176394 0.00029
NM_000350.3(ABCA4):c.2486C>T (p.Thr829Met) rs139250920 0.00029
NM_000465.4(BARD1):c.346C>T (p.His116Tyr) rs144856889 0.00029
NM_000466.3(PEX1):c.1360-7C>T rs371890000 0.00029
NM_000488.4(SERPINC1):c.29C>A (p.Thr10Asn) rs61736655 0.00029
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00029
NM_000507.4(FBP1):c.102G>C (p.Leu34=) rs143832764 0.00029
NM_000507.4(FBP1):c.495C>T (p.Tyr165=) rs139264724 0.00029
NM_000515.5(GH1):c.597C>G (p.Val199=) rs142704768 0.00029
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562 0.00029
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_000528.4(MAN2B1):c.2501C>T (p.Ser834Leu) rs199967717 0.00029
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser) rs143815159 0.00029
NM_000642.3(AGL):c.82+4A>C rs765098686 0.00029
NM_000687.4(AHCY):c.855-8C>T rs370059571 0.00029
NM_000709.4(BCKDHA):c.294G>A (p.Pro98=) rs142967869 0.00029
NM_001002294.3(FMO3):c.341A>G (p.Asn114Ser) rs186763441 0.00029
NM_001008216.2(GALE):c.369G>A (p.Gly123=) rs138148991 0.00029
NM_001083116.3(PRF1):c.1000G>A (p.Gly334Ser) rs145463632 0.00029
NM_001114753.3(ENG):c.1258A>G (p.Met420Val) rs143724056 0.00029
NM_001126108.2(SLC12A3):c.1926-10C>G rs375828467 0.00029
NM_001142800.2(EYS):c.5577C>T (p.Pro1859=) rs747911999 0.00029
NM_001160372.4(TRAPPC9):c.1809G>A (p.Leu603=) rs146235874 0.00029
NM_001161748.2(LIM2):c.175+50G>A rs147625714 0.00029
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330 0.00029
NM_001164508.2(NEB):c.22647G>A (p.Glu7549=) rs201688876 0.00029
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=) rs370873040 0.00029
NM_001164508.2(NEB):c.5696C>T (p.Thr1899Ile) rs202234374 0.00029
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=) rs150682314 0.00029
NM_001277115.2(DNAH11):c.794G>A (p.Arg265His) rs192989152 0.00029
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_001698.3(AUH):c.936T>C (p.Tyr312=) rs139628387 0.00029
NM_002103.5(GYS1):c.1338C>T (p.His446=) rs139974904 0.00029
NM_002529.4(NTRK1):c.1068C>T (p.Asn356=) rs145823996 0.00029
NM_002617.4(PEX10):c.316C>T (p.Leu106=) rs140340426 0.00029
NM_002863.5(PYGL):c.1757C>T (p.Thr586Met) rs144989341 0.00029
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala) rs377767450 0.00029
NM_003859.3(DPM1):c.22C>T (p.Arg8Cys) rs201392536 0.00029
NM_005535.3(IL12RB1):c.390C>T (p.Thr130=) rs201723337 0.00029
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr) rs148028521 0.00029
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val) rs150368988 0.00029
NM_006031.6(PCNT):c.4222C>T (p.Arg1408Trp) rs202161810 0.00029
NM_006348.5(COG5):c.117C>T (p.Asn39=) rs138518242 0.00029
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=) rs145825654 0.00029
NM_014252.4(SLC25A15):c.345C>T (p.Phe115=) rs35434090 0.00029
NM_014290.3(TDRD7):c.622A>G (p.Thr208Ala) rs139706467 0.00029
NM_016729.3(FOLR1):c.157T>C (p.Leu53=) rs143413500 0.00029
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=) rs558778286 0.00029
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=) rs143346402 0.00029
NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=) rs145561881 0.00029
NM_020366.4(RPGRIP1):c.1920C>T (p.Ala640=) rs368434311 0.00029
NM_022124.6(CDH23):c.*104G>C rs377312107 0.00029
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055 0.00029
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777 0.00029
NM_080424.4(SP110):c.459G>A (p.Ala153=) rs201957445 0.00029
NM_152564.5(VPS13B):c.3436C>G (p.Leu1146Val) rs202015701 0.00029
NM_152564.5(VPS13B):c.4989C>A (p.Pro1663=) rs142380266 0.00029
NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu) rs115440602 0.00029
NM_152783.5(D2HGDH):c.893C>T (p.Thr298Ile) rs141475702 0.00029
NM_174936.4(PCSK9):c.399+4A>G rs376653409 0.00029
NM_182760.4(SUMF1):c.602+12C>T rs200971871 0.00029
NM_199242.3(UNC13D):c.2830+7G>A rs201023196 0.00029
NM_199242.3(UNC13D):c.972C>T (p.Asp324=) rs368990813 0.00029
NM_000098.3(CPT2):c.500G>A (p.Arg167Gln) rs144760921 0.00028
NM_000170.3(GLDC):c.2874C>T (p.Ser958=) rs146339375 0.00028
NM_000350.3(ABCA4):c.2744-5C>T rs76305791 0.00028
NM_000360.4(TH):c.67G>A (p.Ala23Thr) rs201081519 0.00028
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00028
NM_000492.4(CFTR):c.1584+12T>C rs193922502 0.00028
NM_001035.3(RYR2):c.10231-5C>T rs186326951 0.00028
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) rs148697028 0.00028
NM_001134363.3(RBM20):c.1378T>C (p.Leu460=) rs374014662 0.00028
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392 0.00028
NM_001164508.2(NEB):c.20853C>T (p.Ile6951=) rs199730497 0.00028
NM_001277115.2(DNAH11):c.8973G>A (p.Thr2991=) rs200978576 0.00028
NM_001384474.1(LOXHD1):c.4824C>G (p.Val1608=) rs114557260 0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_002076.4(GNS):c.1434C>G (p.Val478=) rs141958901 0.00028
NM_004629.2(FANCG):c.1545C>T (p.Ala515=) rs201422773 0.00028
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_012434.5(SLC17A5):c.1432G>A (p.Ala478Thr) rs141341430 0.00028
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) rs199890503 0.00028
NM_033305.3(VPS13A):c.1528C>T (p.Leu510=) rs147954757 0.00028
NM_053025.4(MYLK):c.5114+8G>A rs202229368 0.00028
NM_000211.5(ITGB2):c.1877+12C>T rs200144784 0.00027
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644 0.00027
NM_000318.3(PEX2):c.447T>G (p.Gly149=) rs375401977 0.00027
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln) rs201958805 0.00027
NM_001355436.2(SPTB):c.1577C>T (p.Thr526Ile) rs145315673 0.00027
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe) rs368870055 0.00027
NM_002292.4(LAMB2):c.5142G>A (p.Lys1714=) rs139511264 0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_002529.4(NTRK1):c.575G>C (p.Gly192Ala) rs201185829 0.00027
NM_003283.6(TNNT1):c.-12+15G>A rs539247551 0.00027
NM_003331.5(TYK2):c.1141C>T (p.Arg381Trp) rs201240289 0.00027
NM_003664.5(AP3B1):c.303C>T (p.Tyr101=) rs115747826 0.00027
NM_003849.4(SUCLG1):c.345T>C (p.Ala115=) rs374594774 0.00027
NM_004239.4(TRIP11):c.202-11T>G rs561503305 0.00027
NM_006348.5(COG5):c.2401T>C (p.Ser801Pro) rs141942249 0.00027
NM_007374.3(SIX6):c.636G>C (p.Thr212=) rs140601427 0.00027
NM_022356.4(P3H1):c.693G>A (p.Ala231=) rs149113630 0.00027
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile) rs201963516 0.00027
NM_198578.4(LRRK2):c.4536+3A>G rs41286476 0.00027
NM_000018.4(ACADVL):c.1533-4T>A rs369986567 0.00026
NM_000037.4(ANK1):c.876G>A (p.Leu292=) rs373060967 0.00026
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=) rs587780866 0.00026
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=) rs28897730 0.00026
NM_000080.4(CHRNE):c.23T>C (p.Val8Ala) rs199807050 0.00026
NM_000081.4(LYST):c.6487G>A (p.Ala2163Thr) rs201513511 0.00026
NM_000081.4(LYST):c.7368T>C (p.Asn2456=) rs199631995 0.00026
NM_000096.4(CP):c.2565C>T (p.Leu855=) rs781672409 0.00026
NM_000130.5(F5):c.996A>C (p.Lys332Asn) rs143509841 0.00026
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738 0.00026
NM_000154.2(GALK1):c.-22T>C rs545362817 0.00026
NM_000215.4(JAK3):c.187A>G (p.Ile63Val) rs144405201 0.00026
NM_000295.5(SERPINA1):c.171C>T (p.Phe57=) rs150784949 0.00026
NM_000317.3(PTS):c.195T>C (p.Pro65=) rs143472856 0.00026
NM_000341.4(SLC3A1):c.1473C>T (p.Ala491=) rs144065614 0.00026
NM_000355.4(TCN2):c.903C>T (p.Tyr301=) rs146036025 0.00026
NM_000419.5(ITGA2B):c.2449-11C>T rs201702898 0.00026
NM_000488.4(SERPINC1):c.870C>T (p.Phe290=) rs370190321 0.00026
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr) rs141723617 0.00026
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962 0.00026
NM_000528.4(MAN2B1):c.2619G>A (p.Pro873=) rs372896479 0.00026
NM_000540.3(RYR1):c.4115C>T (p.Ala1372Val) rs370966353 0.00026
NM_000553.6(WRN):c.2986G>A (p.Asp996Asn) rs138379977 0.00026
NM_000751.3(CHRND):c.651G>A (p.Pro217=) rs146205427 0.00026
NM_001033044.4(GLUL):c.880C>T (p.Leu294=) rs199824213 0.00026
NM_001035.3(RYR2):c.*1108A>G rs540171235 0.00026
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=) rs376909665 0.00026
NM_001130987.2(DYSF):c.2217-11G>A rs200853014 0.00026
NM_001142800.2(EYS):c.9237A>G (p.Leu3079=) rs139944387 0.00026
NM_001199397.3(NEK1):c.3583+8A>C rs192372022 0.00026
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met) rs142524025 0.00026
NM_001384474.1(LOXHD1):c.1313A>G (p.Lys438Arg) rs186138859 0.00026
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=) rs200306249 0.00026
NM_001844.5(COL2A1):c.2680-9C>T rs369022247 0.00026
NM_001875.5(CPS1):c.1569A>G (p.Arg523=) rs140475976 0.00026
NM_001999.4(FBN2):c.1850-9C>T rs199937209 0.00026
NM_002292.4(LAMB2):c.2322C>G (p.Thr774=) rs142116851 0.00026
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val) rs145972303 0.00026
NM_003331.5(TYK2):c.2670G>C (p.Thr890=) rs144332908 0.00026
NM_003748.4(ALDH4A1):c.1377G>C (p.Pro459=) rs146222625 0.00026
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile) rs143217651 0.00026
NM_005609.4(PYGM):c.2268C>T (p.Pro756=) rs144229867 0.00026
NM_006892.4(DNMT3B):c.1620G>A (p.Lys540=) rs368295290 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_012203.2(GRHPR):c.468C>T (p.Val156=) rs142509393 0.00026
NM_014141.6(CNTNAP2):c.3174C>G (p.Thr1058=) rs143226012 0.00026
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr) rs372103269 0.00026
NM_014363.6(SACS):c.12438G>A (p.Ser4146=) rs150959878 0.00026
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu) rs142348911 0.00026
NM_020919.4(ALS2):c.1677A>G (p.Lys559=) rs367640165 0.00026
NM_022124.6(CDH23):c.3213G>A (p.Glu1071=) rs140255091 0.00026
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588 0.00026
NM_024589.3(ROGDI):c.378G>C (p.Leu126=) rs145588848 0.00026
NM_024996.7(GFM1):c.1831C>T (p.Leu611=) rs190393538 0.00026
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile) rs139932041 0.00026
NM_032444.4(SLX4):c.86G>A (p.Arg29His) rs149117119 0.00026
NM_183050.4(BCKDHB):c.744G>A (p.Ala248=) rs147719822 0.00026
NM_000037.4(ANK1):c.447G>T (p.Ala149=) rs140550365 0.00025
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000081.4(LYST):c.4578T>A (p.Asn1526Lys) rs117609949 0.00025
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_000130.5(F5):c.2868T>C (p.Tyr956=) rs149067268 0.00025
NM_000135.4(FANCA):c.2799A>G (p.Leu933=) rs148250597 0.00025
NM_000186.4(CFH):c.3133+4C>G rs374729595 0.00025
NM_000343.4(SLC5A1):c.1280+8C>G rs200130719 0.00025
NM_000498.3(CYP11B2):c.477G>A (p.Pro159=) rs375242946 0.00025
NM_000501.4(ELN):c.930C>T (p.Ala310=) rs147367888 0.00025
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=) rs112829030 0.00025
NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser) rs143398211 0.00025
NM_001035.3(RYR2):c.2574G>A (p.Thr858=) rs367992907 0.00025
NM_001035.3(RYR2):c.6689-12T>C rs370972311 0.00025
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys) rs200049922 0.00025
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126 0.00025
NM_002435.3(MPI):c.671-4T>G rs199719453 0.00025
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) rs146228576 0.00025
NM_003849.4(SUCLG1):c.110G>C (p.Gly37Ala) rs369610897 0.00025
NM_005609.4(PYGM):c.612C>T (p.Tyr204=) rs200467937 0.00025
NM_005902.4(SMAD3):c.207-10G>A rs201912204 0.00025
NM_020320.5(RARS2):c.207A>G (p.Ala69=) rs568483789 0.00025
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269 0.00025
NM_053025.4(MYLK):c.2253C>T (p.Thr751=) rs138777049 0.00025
NM_152269.5(MTRFR):c.336A>G (p.Leu112=) rs138538426 0.00025
NM_152618.3(BBS12):c.1257C>T (p.Ser419=) rs34652786 0.00025
NM_201253.3(CRB1):c.2230C>A (p.Arg744=) rs150412614 0.00025
NM_000073.3(CD3G):c.511T>C (p.Tyr171His) rs148191859 0.00024
NM_000135.4(FANCA):c.2589C>A (p.Gly863=) rs72807571 0.00024
NM_000152.5(GAA):c.1552-14C>T rs199715011 0.00024
NM_000154.2(GALK1):c.447G>A (p.Thr149=) rs765744088 0.00024
NM_000211.5(ITGB2):c.1575C>T (p.Pro525=) rs200615045 0.00024
NM_000246.4(CIITA):c.2817-10T>C rs75381106 0.00024
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000294.3(PHKG2):c.360A>G (p.Thr120=) rs149163610 0.00024
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met) rs61752424 0.00024
NM_000359.3(TGM1):c.167C>T (p.Ala56Val) rs147479810 0.00024
NM_000481.4(AMT):c.152C>T (p.Ala51Val) rs34812788 0.00024
NM_000501.4(ELN):c.861G>A (p.Gly287=) rs368610108 0.00024
NM_000540.3(RYR1):c.7026C>T (p.Asn2342=) rs202061237 0.00024
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=) rs137960127 0.00024
NM_001008216.2(GALE):c.423C>T (p.Tyr141=) rs138518245 0.00024
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=) rs377293019 0.00024
NM_001040716.2(PC):c.715A>G (p.Ile239Val) rs148805312 0.00024
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu) rs372880553 0.00024
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser) rs149768871 0.00024
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser) rs200271618 0.00024
NM_001166114.2(PNPLA6):c.3699+9G>A rs201144113 0.00024
NM_001199397.3(NEK1):c.1617G>A (p.Gln539=) rs146569517 0.00024
NM_001277115.2(DNAH11):c.3853-5C>G rs367628980 0.00024
NM_001277115.2(DNAH11):c.4945-12T>C rs141572016 0.00024
NM_001368894.2(PAX6):c.985T>C (p.Leu329=) rs373147550 0.00024
NM_001377.3(DYNC2H1):c.5642G>A (p.Arg1881Lys) rs199541807 0.00024
NM_001377.3(DYNC2H1):c.8311+10A>G rs376842066 0.00024
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700 0.00024
NM_001457.4(FLNB):c.3594G>A (p.Thr1198=) rs143566075 0.00024
NM_001457.4(FLNB):c.7255G>A (p.Val2419Ile) rs202143851 0.00024
NM_001558.4(IL10RA):c.96G>A (p.Val32=) rs377525753 0.00024
NM_002474.3(MYH11):c.2802G>A (p.Glu934=) rs138977949 0.00024
NM_002693.3(POLG):c.2541C>T (p.Ala847=) rs143810171 0.00024
NM_003119.4(SPG7):c.1359G>A (p.Ala453=) rs115448299 0.00024
NM_003560.4(PLA2G6):c.773C>T (p.Ser258Leu) rs147924368 0.00024
NM_003664.5(AP3B1):c.2310C>T (p.Asp770=) rs142938290 0.00024
NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly) rs200124902 0.00024
NM_004239.4(TRIP11):c.5889G>A (p.Ala1963=) rs142075650 0.00024
NM_005518.4(HMGCS2):c.570C>T (p.Ala190=) rs201735169 0.00024
NM_005787.6(ALG3):c.933-4C>T rs190571910 0.00024
NM_006206.6(PDGFRA):c.801A>G (p.Pro267=) rs55966236 0.00024
NM_006445.4(PRPF8):c.1253C>G (p.Thr418Ser) rs142411659 0.00024
NM_014363.6(SACS):c.8577C>T (p.His2859=) rs140016265 0.00024
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 0.00024
NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln) rs190490019 0.00024
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_022367.4(SEMA4A):c.1086A>C (p.Ser362=) rs145993678 0.00024
NM_024105.4(ALG12):c.470-11C>T rs375328311 0.00024
NM_024422.6(DSC2):c.857G>T (p.Gly286Val) rs199682735 0.00024
NM_025099.6(CTC1):c.862G>A (p.Val288Met) rs201553464 0.00024
NM_025137.4(SPG11):c.491C>T (p.Ser164Leu) rs148175530 0.00024
NM_031885.5(BBS2):c.1104C>T (p.Asn368=) rs141731677 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NM_133459.4(CCBE1):c.966G>A (p.Ala322=) rs144169027 0.00024
NM_138694.4(PKHD1):c.1257C>T (p.Val419=) rs374650666 0.00024
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) rs141324814 0.00024
NM_153033.5(KCTD7):c.687T>C (p.Asp229=) rs372150992 0.00024
NM_194248.3(OTOF):c.327+5G>T rs370643920 0.00024
NM_198525.3(KIF7):c.2613G>A (p.Glu871=) rs370595622 0.00024
NM_000038.6(APC):c.6526T>C (p.Leu2176=) rs183468041 0.00023
NM_000064.4(C3):c.1873A>T (p.Ile625Phe) rs144432231 0.00023
NM_000138.5(FBN1):c.6314-15G>A rs200841830 0.00023
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770 0.00023
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys) rs201839693 0.00023
NM_000277.3(PAH):c.1161C>T (p.Tyr387=) rs149595475 0.00023
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647 0.00023
NM_000290.4(PGAM2):c.288A>G (p.Thr96=) rs139561812 0.00023
NM_001164508.2(NEB):c.1899A>T (p.Arg633Ser) rs77826191 0.00023
NM_001164508.2(NEB):c.5181C>T (p.Tyr1727=) rs35016946 0.00023
NM_001166114.2(PNPLA6):c.225A>G (p.Arg75=) rs553088930 0.00023
NM_001277115.2(DNAH11):c.12601C>T (p.Pro4201Ser) rs200166341 0.00023
NM_001277115.2(DNAH11):c.12899G>A (p.Arg4300His) rs377388499 0.00023
NM_001365088.1(SLC12A6):c.1012C>T (p.Arg338Cys) rs77122016 0.00023
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) rs200014315 0.00023
NM_001395413.1(POR):c.1482G>T (p.Leu494=) rs370326231 0.00023
NM_001558.4(IL10RA):c.781C>T (p.Arg261Trp) rs201396764 0.00023
NM_002529.4(NTRK1):c.641G>A (p.Arg214Gln) rs200132482 0.00023
NM_003060.4(SLC22A5):c.-26G>A rs369724970 0.00023
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys) rs150775371 0.00023
NM_006005.3(WFS1):c.2250C>T (p.Ala750=) rs369498603 0.00023
NM_014855.3(AP5Z1):c.1785G>T (p.Gly595=) rs774921196 0.00023
NM_015192.4(PLCB1):c.714A>C (p.Pro238=) rs147567110 0.00023
NM_017636.4(TRPM4):c.1836G>A (p.Arg612=) rs112589404 0.00023
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) rs144095826 0.00023
NM_130849.4(SLC39A4):c.615C>T (p.Phe205=) rs201681875 0.00023
NM_194454.3(KRIT1):c.1326C>G (p.Thr442=) rs150912644 0.00023
NM_198578.4(LRRK2):c.6801C>T (p.Thr2267=) rs148143226 0.00023
NM_198904.4(GABRG2):c.922+6A>G rs375294947 0.00023
NM_213653.4(HJV):c.435G>C (p.Pro145=) rs370184725 0.00023
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=) rs200324179 0.00022
NM_000081.4(LYST):c.2754G>A (p.Glu918=) rs373577384 0.00022
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782 0.00022
NM_000137.4(FAH):c.747A>G (p.Pro249=) rs138757552 0.00022
NM_000181.4(GUSB):c.1240C>T (p.Leu414=) rs150686327 0.00022
NM_000222.3(KIT):c.2349C>T (p.Leu783=) rs151046591 0.00022
NM_000235.4(LIPA):c.1009A>G (p.Thr337Ala) rs143793106 0.00022
NM_000237.3(LPL):c.687T>C (p.His229=) rs45607438 0.00022
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=) rs376624031 0.00022
NM_000360.4(TH):c.12C>T (p.Pro4=) rs147131010 0.00022
NM_000400.4(ERCC2):c.1905G>A (p.Ala635=) rs145835916 0.00022
NM_000518.5(HBB):c.246C>A (p.Leu82=) rs145669504 0.00022
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413 0.00022
NM_000532.5(PCCB):c.544-5G>C rs372351800 0.00022
NM_000540.3(RYR1):c.3555C>T (p.Asp1185=) rs377282283 0.00022
NM_000540.3(RYR1):c.6639C>T (p.Asn2213=) rs374630822 0.00022
NM_000787.4(DBH):c.291C>T (p.Asn97=) rs75734048 0.00022
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_001160372.4(TRAPPC9):c.3411C>A (p.Pro1137=) rs373979305 0.00022
NM_001160372.4(TRAPPC9):c.370A>G (p.Ile124Val) rs117688394 0.00022
NM_001164508.2(NEB):c.17845-5G>A rs373390654 0.00022
NM_001256715.2(DNAAF3):c.1049-1G>A rs199590885 0.00022
NM_001277115.2(DNAH11):c.9783G>C (p.Glu3261Asp) rs201944089 0.00022
NM_001377.3(DYNC2H1):c.10043-7T>A rs376067770 0.00022
NM_001457.4(FLNB):c.1534G>A (p.Ala512Thr) rs201544295 0.00022
NM_001457.4(FLNB):c.3052G>A (p.Val1018Met) rs2276742 0.00022
NM_002435.3(MPI):c.573C>T (p.Ala191=) rs200903491 0.00022
NM_002617.4(PEX10):c.611G>A (p.Arg204His) rs199934621 0.00022
NM_004132.5(HABP2):c.753G>A (p.Ala251=) rs146758495 0.00022
NM_004360.5(CDH1):c.33G>C (p.Leu11=) rs730881654 0.00022
NM_005198.5(CHKB):c.263C>T (p.Pro88Leu) rs146163970 0.00022
NM_005609.4(PYGM):c.2177+7G>A rs201366697 0.00022
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr) rs140125843 0.00022
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) rs201064551 0.00022
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=) rs200210415 0.00022
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866 0.00022
NM_017775.4(TTC19):c.313-4T>C rs374666326 0.00022
NM_020533.3(MCOLN1):c.1359+13C>T rs143068910 0.00022
NM_022356.4(P3H1):c.1428C>T (p.Gly476=) rs141786883 0.00022
NM_024312.5(GNPTAB):c.70T>G (p.Phe24Val) rs141329633 0.00022
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr) rs199918720 0.00022
NM_025000.4(DCAF17):c.533G>A (p.Arg178Gln) rs202231211 0.00022
NM_025099.6(CTC1):c.3498G>A (p.Ser1166=) rs369209127 0.00022
NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val) rs200220848 0.00022
NM_032520.5(GNPTG):c.67G>C (p.Gly23Arg) rs547624231 0.00022
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907 0.00022
NM_053025.4(MYLK):c.842A>G (p.Lys281Arg) rs147770839 0.00022
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568 0.00022
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala) rs145392789 0.00022
NM_000037.4(ANK1):c.669G>A (p.Gln223=) rs375060699 0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys) rs140268343 0.00021
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val) rs199855658 0.00021
NM_000081.4(LYST):c.4006+8G>A rs369153654 0.00021
NM_000081.4(LYST):c.9045-13T>C rs181450025 0.00021
NM_000096.4(CP):c.1104G>C (p.Gly368=) rs142503847 0.00021
NM_000130.5(F5):c.2864G>T (p.Ser955Ile) rs199507543 0.00021
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) rs142784426 0.00021
NM_000151.4(G6PC1):c.909C>T (p.Leu303=) rs368282218 0.00021
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311 0.00021
NM_000246.4(CIITA):c.2892G>A (p.Leu964=) rs200599265 0.00021
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn) rs371140684 0.00021
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=) rs115401566 0.00021
NM_000345.4(SNCA):c.216G>A (p.Thr72=) rs144758871 0.00021
NM_000350.3(ABCA4):c.3568G>A (p.Ala1190Thr) rs368692594 0.00021
NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=) rs138831474 0.00021
NM_000355.4(TCN2):c.522C>T (p.Ser174=) rs537115632 0.00021
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000441.2(SLC26A4):c.1544+9C>T rs368970459 0.00021
NM_000506.5(F2):c.495G>A (p.Thr165=) rs144857547 0.00021
NM_000512.5(GALNS):c.771C>T (p.Ala257=) rs370586494 0.00021
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=) rs147021347 0.00021
NM_000709.4(BCKDHA):c.125A>G (p.Gln42Arg) rs150177278 0.00021
NM_001010892.3(RSPH4A):c.930C>T (p.Asn310=) rs180881714 0.00021
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=) rs144654282 0.00021
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=) rs369917806 0.00021
NM_001035.3(RYR2):c.577-14G>A rs148019277 0.00021
NM_001040716.2(PC):c.1446C>T (p.Asp482=) rs145891535 0.00021
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser) rs139529811 0.00021
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val) rs150834671 0.00021
NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg) rs143562525 0.00021
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr) rs142210216 0.00021
NM_001277115.2(DNAH11):c.2419G>C (p.Asp807His) rs369849556 0.00021
NM_001277115.2(DNAH11):c.2499C>T (p.Asn833=) rs201231307 0.00021
NM_001277115.2(DNAH11):c.9925-7T>C rs146815254 0.00021
NM_001384474.1(LOXHD1):c.1887C>T (p.Ser629=) rs189550119 0.00021
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=) rs369039902 0.00021
NM_001875.5(CPS1):c.234A>G (p.Gly78=) rs182678639 0.00021
NM_001875.5(CPS1):c.5C>T (p.Thr2Met) rs150314086 0.00021
NM_001953.5(TYMP):c.1176C>T (p.Val392=) rs770533125 0.00021
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile) rs138834515 0.00021
NM_002185.5(IL7R):c.1165G>C (p.Asp389His) rs143596606 0.00021
NM_002529.4(NTRK1):c.630C>T (p.Asp210=) rs147882947 0.00021
NM_002617.4(PEX10):c.776+8C>T rs370594705 0.00021
NM_002633.3(PGM1):c.420A>G (p.Pro140=) rs141007881 0.00021
NM_003640.5(ELP1):c.1878C>T (p.Asp626=) rs141596257 0.00021
NM_003849.4(SUCLG1):c.87C>T (p.Arg29=) rs371938859 0.00021
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 0.00021
NM_005535.3(IL12RB1):c.1048G>A (p.Gly350Arg) rs200811721 0.00021
NM_005546.4(ITK):c.237G>A (p.Pro79=) rs201403794 0.00021
NM_005591.4(MRE11):c.1491C>T (p.Ile497=) rs199634245 0.00021
NM_006005.3(WFS1):c.1758C>T (p.Ala586=) rs145144527 0.00021
NM_006623.4(PHGDH):c.412-15C>T rs368681081 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_012073.5(CCT5):c.1425C>T (p.Thr475=) rs370529963 0.00021
NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser) rs138585919 0.00021
NM_014714.4(IFT140):c.3271-4G>A rs200815296 0.00021
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln) rs145718272 0.00021
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=) rs202149647 0.00021
NM_017636.4(TRPM4):c.748C>T (p.Arg250Cys) rs144208673 0.00021
NM_017882.3(CLN6):c.282C>A (p.Pro94=) rs139261571 0.00021
NM_018714.3(COG1):c.2365G>A (p.Glu789Lys) rs201867802 0.00021
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu) rs201806708 0.00021
NM_020376.4(PNPLA2):c.726C>T (p.Tyr242=) rs144220751 0.00021
NM_021728.4(OTX2):c.273+11T>C rs371958059 0.00021
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu) rs199894395 0.00021
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val) rs143156315 0.00021
NM_022436.3(ABCG5):c.1118+13C>G rs371609600 0.00021
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678 0.00021
NM_052845.4(MMAB):c.333C>T (p.Ala111=) rs769385276 0.00021
NM_052859.4(RFT1):c.831G>A (p.Val277=) rs150391936 0.00021
NM_173842.3(IL1RN):c.117-9C>T rs373136455 0.00021
NM_182894.3(VSX2):c.244G>A (p.Gly82Arg) rs375294678 0.00021
NM_198578.4(LRRK2):c.5799A>T (p.Ile1933=) rs139746572 0.00021
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=) rs148553723 0.00021
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val) rs150038447 0.00020
NM_000079.4(CHRNA1):c.1294G>A (p.Gly432Arg) rs151081792 0.00020
NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu) rs200511787 0.00020
NM_000092.5(COL4A4):c.193-9C>G rs190570269 0.00020
NM_000203.5(IDUA):c.1002G>A (p.Leu334=) rs370582480 0.00020
NM_000203.5(IDUA):c.1332C>T (p.Asp444=) rs545473192 0.00020
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val) rs104895151 0.00020
NM_000286.3(PEX12):c.84T>C (p.Ser28=) rs200641558 0.00020
NM_000312.4(PROC):c.-54G>A rs2069936 0.00020
NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=) rs144496536 0.00020
NM_000426.4(LAMA2):c.5558T>G (p.Ile1853Arg) rs141911213 0.00020
NM_000426.4(LAMA2):c.8988+15T>C rs201041465 0.00020
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=) rs150860491 0.00020
NM_000455.5(STK11):c.1296G>A (p.Gln432=) rs587781179 0.00020
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val) rs748568687 0.00020
NM_000553.6(WRN):c.3139-9T>C rs377226126 0.00020
NM_000751.3(CHRND):c.45G>A (p.Ala15=) rs138609765 0.00020
NM_001003722.2(GLE1):c.643-4A>G rs369804957 0.00020
NM_001035.3(RYR2):c.14220C>T (p.Ala4740=) rs368971586 0.00020
NM_001065.4(TNFRSF1A):c.645C>T (p.Pro215=) rs147075345 0.00020
NM_001080.3(ALDH5A1):c.1344-6T>C rs368212282 0.00020
NM_001130987.2(DYSF):c.1784C>T (p.Ala595Val) rs201515915 0.00020
NM_001164508.2(NEB):c.10608C>T (p.Gly3536=) rs144673752 0.00020
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu) rs368302286 0.00020
NM_001277115.2(DNAH11):c.13399G>A (p.Val4467Met) rs200609513 0.00020
NM_001365088.1(SLC12A6):c.966C>T (p.Gly322=) rs142496698 0.00020
NM_002292.4(LAMB2):c.253G>A (p.Glu85Lys) rs140371771 0.00020
NM_002303.6(LEPR):c.3019A>T (p.Ser1007Cys) rs145651189 0.00020
NM_004320.6(ATP2A1):c.1329A>G (p.Thr443=) rs376915313 0.00020
NM_005327.7(HADH):c.*514A>G rs183594888 0.00020
NM_007272.3(CTRC):c.674A>C (p.Glu225Ala) rs201486613 0.00020
NM_013339.4(ALG6):c.882T>C (p.Arg294=) rs145894044 0.00020
NM_013435.3(RAX):c.783G>C (p.Pro261=) rs766154387 0.00020
NM_014363.6(SACS):c.7200T>C (p.Phe2400=) rs148544893 0.00020
NM_014714.4(IFT140):c.1230G>A (p.Ser410=) rs199840711 0.00020
NM_017636.4(TRPM4):c.1874-9C>T rs199805560 0.00020
NM_053025.4(MYLK):c.455G>A (p.Arg152His) rs201754358 0.00020
NM_152263.4(TPM3):c.804C>T (p.Tyr268=) rs762511246 0.00020
NM_174936.4(PCSK9):c.499C>T (p.Arg167Trp) rs137878146 0.00020
NM_201548.5(CERKL):c.900T>C (p.His300=) rs183252158 0.00020
NM_000037.4(ANK1):c.3533-10G>A rs374510116 0.00019
NM_000038.6(APC):c.2205G>A (p.Ala735=) rs141001261 0.00019
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=) rs187343742 0.00019
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly) rs376398239 0.00019
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709 0.00019
NM_000130.5(F5):c.5124C>T (p.Tyr1708=) rs199568344 0.00019
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro) rs147672303 0.00019
NM_000152.5(GAA):c.250G>A (p.Val84Ile) rs139595011 0.00019
NM_000153.4(GALC):c.1272G>A (p.Gln424=) rs376675180 0.00019
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys) rs146286491 0.00019
NM_000170.3(GLDC):c.1530G>A (p.Gly510=) rs145665442 0.00019
NM_000170.3(GLDC):c.2570-10T>C rs373987254 0.00019
NM_000179.3(MSH6):c.4001+11_4001+15dup rs587779302 0.00019
NM_000212.3(ITGB3):c.2196C>T (p.Leu732=) rs201741054 0.00019
NM_000212.3(ITGB3):c.537C>T (p.Phe179=) rs770144031 0.00019
NM_000212.3(ITGB3):c.900T>C (p.His300=) rs376378154 0.00019
NM_000215.4(JAK3):c.2680+15G>A rs201288968 0.00019
NM_000222.3(KIT):c.952A>G (p.Met318Val) rs143388949 0.00019
NM_000243.3(MEFV):c.1038C>G (p.Gly346=) rs141090517 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_000271.5(NPC1):c.1947+7_1947+11dup rs1555634670 0.00019
NM_000274.4(OAT):c.107G>C (p.Gly36Ala) rs140786333 0.00019
NM_000277.3(PAH):c.399T>C (p.Asn133=) rs145692106 0.00019
NM_000293.3(PHKB):c.1204+9G>T rs200832185 0.00019
NM_000293.3(PHKB):c.2629G>A (p.Gly877Arg) rs150902092 0.00019
NM_000302.4(PLOD1):c.1172A>G (p.Asn391Ser) rs763409574 0.00019
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985 0.00019
NM_000308.4(CTSA):c.1059G>A (p.Pro353=) rs74694805 0.00019
NM_000335.5(SCN5A):c.3228+6C>G rs368048551 0.00019
NM_000355.4(TCN2):c.1017C>G (p.Leu339=) rs35997415 0.00019
NM_000484.4(APP):c.982C>T (p.Arg328Trp) rs200978018 0.00019
NM_000520.6(HEXA):c.1216C>T (p.Leu406=) rs140482769 0.00019
NM_000520.6(HEXA):c.1421+14G>C rs201497629 0.00019
NM_000538.4(RFXAP):c.77C>G (p.Pro26Arg) rs763162669 0.00019
NM_000540.3(RYR1):c.11034+15G>A rs552725260 0.00019
NM_000540.3(RYR1):c.2160C>G (p.Leu720=) rs200914778 0.00019
NM_000540.3(RYR1):c.89A>T (p.Glu30Val) rs145771708 0.00019
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_001005373.4(LRSAM1):c.1515G>A (p.Ser505=) rs140066362 0.00019
NM_001035.3(RYR2):c.1006-12C>T rs367998175 0.00019
NM_001040716.2(PC):c.1266C>T (p.Tyr422=) rs141324828 0.00019
NM_001040716.2(PC):c.89G>A (p.Arg30Gln) rs199616332 0.00019
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=) rs144091165 0.00019
NM_001080.3(ALDH5A1):c.831G>A (p.Val277=) rs138912422 0.00019
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) rs371300262 0.00019
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg) rs138026584 0.00019
NM_001126108.2(SLC12A3):c.81C>G (p.Ser27Arg) rs201850644 0.00019
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852 0.00019
NM_001161352.2(KCNMA1):c.2946C>T (p.Ser982=) rs74699271 0.00019
NM_001164508.2(NEB):c.4149C>T (p.Thr1383=) rs148794372 0.00019
NM_001277115.2(DNAH11):c.9966A>G (p.Gln3322=) rs201050208 0.00019
NM_001360.3(DHCR7):c.99-5C>T rs372886043 0.00019
NM_001365536.1(SCN9A):c.129T>C (p.Asp43=) rs200826539 0.00019
NM_001377.3(DYNC2H1):c.366+10G>A rs200257097 0.00019
NM_001457.4(FLNB):c.2644G>C (p.Val882Leu) rs139124254 0.00019
NM_001692.4(ATP6V1B1):c.1332C>T (p.Leu444=) rs372223196 0.00019
NM_002234.4(KCNA5):c.898G>A (p.Gly300Ser) rs148708451 0.00019
NM_002408.4(MGAT2):c.63C>T (p.Gly21=) rs146729850 0.00019
NM_002778.4(PSAP):c.1476T>C (p.Thr492=) rs139178900 0.00019
NM_003282.4(TNNI2):c.61G>A (p.Val21Met) rs200110633 0.00019
NM_003465.3(CHIT1):c.508G>T (p.Ala170Ser) rs151004649 0.00019
NM_003560.4(PLA2G6):c.441G>A (p.Ala147=) rs371920697 0.00019
NM_003748.4(ALDH4A1):c.150G>A (p.Leu50=) rs201605414 0.00019
NM_004035.7(ACOX1):c.574C>A (p.Gln192Lys) rs200833797 0.00019
NM_004415.4(DSP):c.1344G>A (p.Leu448=) rs138226280 0.00019
NM_004525.3(LRP2):c.11478G>A (p.Ala3826=) rs150464677 0.00019
NM_004817.4(TJP2):c.2384C>T (p.Pro795Leu) rs139867659 0.00019
NM_006261.5(PROP1):c.96G>A (p.Pro32=) rs144314831 0.00019
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr) rs142416150 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_012213.3(MLYCD):c.641+11C>T rs200841672 0.00019
NM_012472.6(DNAAF11):c.178+13A>G rs200580615 0.00019
NM_014000.3(VCL):c.2427C>T (p.Ser809=) rs183739128 0.00019
NM_014141.6(CNTNAP2):c.561T>C (p.Val187=) rs201200400 0.00019
NM_014141.6(CNTNAP2):c.837G>A (p.Val279=) rs143507886 0.00019
NM_014244.5(ADAMTS2):c.1149C>T (p.Thr383=) rs199664723 0.00019
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr) rs138958351 0.00019
NM_014363.6(SACS):c.7647T>G (p.Leu2549=) rs186301471 0.00019
NM_014363.6(SACS):c.99T>C (p.Asp33=) rs775206528 0.00019
NM_014714.4(IFT140):c.2787G>A (p.Thr929=) rs374661866 0.00019
NM_014714.4(IFT140):c.4381G>A (p.Asp1461Asn) rs201065562 0.00019
NM_017668.3(NDE1):c.948-5740C>T rs373378619 0.00019
NM_020533.3(MCOLN1):c.60C>T (p.Pro20=) rs202247664 0.00019
NM_022041.4(GAN):c.283-14T>C rs369700456 0.00019
NM_022098.4(XPNPEP3):c.597G>A (p.Thr199=) rs151167805 0.00019
NM_022464.5(SIL1):c.192C>T (p.Ala64=) rs148651377 0.00019
NM_024105.4(ALG12):c.1152C>G (p.Pro384=) rs375721419 0.00019
NM_025099.6(CTC1):c.2895C>T (p.Ala965=) rs373530008 0.00019
NM_025099.6(CTC1):c.597G>A (p.Thr199=) rs373023392 0.00019
NM_025137.4(SPG11):c.5796T>C (p.His1932=) rs375350193 0.00019
NM_030787.4(CFHR5):c.880G>A (p.Glu294Lys) rs201084185 0.00019
NM_032043.3(BRIP1):c.36G>T (p.Gly12=) rs45566938 0.00019
NM_052945.4(TNFRSF13C):c.213G>A (p.Ala71=) rs767759337 0.00019
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) rs138265409 0.00019
NM_130837.3(OPA1):c.2441-4dup rs761286590 0.00019
NM_133259.4(LRPPRC):c.1929C>T (p.His643=) rs200017171 0.00019
NM_144585.4(SLC22A12):c.1400C>T (p.Thr467Met) rs200104135 0.00019
NM_152263.4(TPM3):c.249G>A (p.Glu83=) rs149765446 0.00019
NM_152564.5(VPS13B):c.4225-6G>A rs199755508 0.00019
NM_172201.2(KCNE2):c.153G>T (p.Leu51=) rs143767851 0.00019
NM_174936.4(PCSK9):c.996+8del rs768213924 0.00019
NM_199242.3(UNC13D):c.114G>A (p.Pro38=) rs755103812 0.00019
NM_206933.4(USH2A):c.1539C>T (p.Thr513=) rs199939890 0.00019
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770 0.00018
NM_000130.5(F5):c.1297-13T>C rs372389170 0.00018
NM_000138.5(FBN1):c.3590-8T>C rs140600 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_000158.4(GBE1):c.313+15G>A rs184391304 0.00018
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397 0.00018
NM_000455.5(STK11):c.618G>A (p.Ala206=) rs370976710 0.00018
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_000515.5(GH1):c.546A>G (p.Leu182=) rs4080078 0.00018
NM_000525.4(KCNJ11):c.354G>A (p.Ser118=) rs140636367 0.00018
NM_000540.3(RYR1):c.4292C>T (p.Thr1431Met) rs191656849 0.00018
NM_000540.3(RYR1):c.4294-4C>T rs368108496 0.00018
NM_000540.3(RYR1):c.4911G>A (p.Ala1637=) rs370350821 0.00018
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219 0.00018
NM_001048174.2(MUTYH):c.1102+9A>T rs587780742 0.00018
NM_001065.4(TNFRSF1A):c.1206C>T (p.Ser402=) rs148334665 0.00018
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) rs202123283 0.00018
NM_001134363.3(RBM20):c.1816G>A (p.Val606Met) rs727505067 0.00018
NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr) rs138928206 0.00018
NM_001164508.2(NEB):c.20896C>T (p.Arg6966Cys) rs115623365 0.00018
NM_001182.5(ALDH7A1):c.528T>C (p.His176=) rs757135576 0.00018
NM_001277115.2(DNAH11):c.2824C>A (p.Pro942Thr) rs189569144 0.00018
NM_001277115.2(DNAH11):c.8145C>T (p.Asn2715=) rs201592689 0.00018
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255 0.00018
NM_001375808.2(LPIN2):c.2327+10C>T rs367921036 0.00018
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=) rs199645176 0.00018
NM_001457.4(FLNB):c.2059G>A (p.Gly687Arg) rs148679414 0.00018
NM_001457.4(FLNB):c.4414G>A (p.Val1472Met) rs141098733 0.00018
NM_002234.4(KCNA5):c.251A>C (p.Glu84Ala) rs377036305 0.00018
NM_002292.4(LAMB2):c.5109C>T (p.Arg1703=) rs151292828 0.00018
NM_002506.3(NGF):c.165G>A (p.Pro55=) rs149876217 0.00018
NM_003060.4(SLC22A5):c.1377A>G (p.Arg459=) rs142264458 0.00018
NM_003560.4(PLA2G6):c.396C>T (p.Arg132=) rs146252218 0.00018
NM_004304.5(ALK):c.4200A>C (p.Glu1400Asp) rs143647372 0.00018
NM_004525.3(LRP2):c.8073C>T (p.His2691=) rs146772976 0.00018
NM_006031.6(PCNT):c.6819G>A (p.Gly2273=) rs200610141 0.00018
NM_012213.3(MLYCD):c.135C>T (p.Arg45=) rs767969074 0.00018
NM_014141.6(CNTNAP2):c.2606T>C (p.Ile869Thr) rs121908445 0.00018
NM_014141.6(CNTNAP2):c.3968A>C (p.Asp1323Ala) rs142434274 0.00018
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=) rs201215425 0.00018
NM_017777.4(MKS1):c.491G>A (p.Arg164His) rs200149256 0.00018
NM_021615.5(CHST6):c.656C>T (p.Ala219Val) rs201743866 0.00018
NM_139343.3(BIN1):c.1143G>A (p.Pro381=) rs372360787 0.00018
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=) rs745668942 0.00018
NM_194318.4(B3GLCT):c.1104C>T (p.Ser368=) rs114425388 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_198904.4(GABRG2):c.1236C>T (p.Tyr412=) rs749951528 0.00018
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys) rs201314561 0.00017
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=) rs147854265 0.00017
NM_000135.4(FANCA):c.874C>G (p.His292Asp) rs200220791 0.00017
NM_000152.5(GAA):c.131G>T (p.Gly44Val) rs550609502 0.00017
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110 0.00017
NM_000153.4(GALC):c.708C>T (p.Ser236=) rs773666802 0.00017
NM_000243.3(MEFV):c.1245C>T (p.Val415=) rs104895195 0.00017
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587 0.00017
NM_000302.4(PLOD1):c.579+10A>G rs538255620 0.00017
NM_000350.3(ABCA4):c.3607+13C>T rs374630957 0.00017
NM_000426.4(LAMA2):c.8989-12C>G rs144860334 0.00017
NM_000528.4(MAN2B1):c.2268-11C>T rs537217370 0.00017
NM_000787.4(DBH):c.1840G>A (p.Gly614Arg) rs76316834 0.00017
NM_000787.4(DBH):c.354C>T (p.Asp118=) rs199898782 0.00017
NM_001008216.2(GALE):c.447C>G (p.Pro149=) rs571625657 0.00017
NM_001032386.2(SUOX):c.574C>T (p.Arg192Trp) rs139444405 0.00017
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=) rs372100073 0.00017
NM_001106.4(ACVR2B):c.1269G>A (p.Ser423=) rs146067304 0.00017
NM_001128425.2(MUTYH):c.42C>T (p.Ile14=) rs202240122 0.00017
NM_001277115.2(DNAH11):c.13162+12C>T rs191638909 0.00017
NM_001375808.2(LPIN2):c.2328-13A>T rs199830303 0.00017
NM_001377.3(DYNC2H1):c.12457-13T>C rs537890566 0.00017
NM_001395413.1(POR):c.180-10T>C rs374111607 0.00017
NM_001609.4(ACADSB):c.795C>T (p.Phe265=) rs150619709 0.00017
NM_001844.5(COL2A1):c.2620C>T (p.Pro874Ser) rs377198201 0.00017
NM_001875.5(CPS1):c.3057T>C (p.Thr1019=) rs150601728 0.00017
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770 0.00017
NM_002185.5(IL7R):c.602A>G (p.Tyr201Cys) rs145810271 0.00017
NM_002474.3(MYH11):c.1212G>C (p.Gly404=) rs201198815 0.00017
NM_002529.4(NTRK1):c.631G>A (p.Val211Met) rs201192875 0.00017
NM_002618.4(PEX13):c.856G>A (p.Val286Ile) rs201699810 0.00017
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp) rs200257554 0.00017
NM_002693.3(POLG):c.2028G>A (p.Ala676=) rs373550219 0.00017
NM_003060.4(SLC22A5):c.852C>T (p.Leu284=) rs146185976 0.00017
NM_003465.3(CHIT1):c.480+12C>T rs201180236 0.00017
NM_003850.3(SUCLA2):c.272-13G>C rs367890526 0.00017
NM_004076.5(CRYBB3):c.584G>A (p.Arg195His) rs147937174 0.00017
NM_004100.5(EYA4):c.1617-11C>T rs118166702 0.00017
NM_004278.4(PIGL):c.446G>C (p.Gly149Ala) rs140211194 0.00017
NM_004320.6(ATP2A1):c.2310C>T (p.Gly770=) rs7192781 0.00017
NM_005535.3(IL12RB1):c.735G>A (p.Val245=) rs17878522 0.00017
NM_006348.5(COG5):c.1725G>A (p.Glu575=) rs145128460 0.00017
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=) rs79606317 0.00017
NM_014363.6(SACS):c.11928T>C (p.Ser3976=) rs145680118 0.00017
NM_014363.6(SACS):c.3282C>T (p.Asn1094=) rs145499245 0.00017
NM_022464.5(SIL1):c.699T>C (p.Asn233=) rs140891877 0.00017
NM_024592.5(SRD5A3):c.43C>T (p.Leu15=) rs376944136 0.00017
NM_052945.4(TNFRSF13C):c.375G>A (p.Glu125=) rs371805226 0.00017
NM_133642.5(LARGE1):c.584G>A (p.Arg195His) rs147597912 0.00017
NM_138694.4(PKHD1):c.1765C>T (p.Arg589Cys) rs137972270 0.00017
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=) rs200679577 0.00017
NM_138711.6(PPARG):c.391-3C>T rs370830238 0.00017
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291 0.00017
NM_172250.3(MMAA):c.630A>G (p.Pro210=) rs374347679 0.00017
NM_000017.4(ACADS):c.465C>T (p.Ser155=) rs141492002 0.00016
NM_000037.4(ANK1):c.3282G>A (p.Thr1094=) rs144821829 0.00016
NM_000037.4(ANK1):c.5376C>T (p.Thr1792=) rs147232364 0.00016
NM_000053.4(ATP7B):c.445G>A (p.Val149Met) rs200606656 0.00016
NM_000057.4(BLM):c.3751+10C>T rs199685140 0.00016
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=) rs202019404 0.00016
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val) rs201463598 0.00016
NM_000081.4(LYST):c.6291C>T (p.Ala2097=) rs199857997 0.00016
NM_000103.4(CYP19A1):c.721T>A (p.Tyr241Asn) rs143562020 0.00016
NM_000130.5(F5):c.4972-14A>C rs763080313 0.00016
NM_000130.5(F5):c.524A>G (p.His175Arg) rs201510575 0.00016
NM_000130.5(F5):c.628C>A (p.Gln210Lys) rs144937515 0.00016
NM_000135.4(FANCA):c.3348+7G>T rs185527578 0.00016
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850 0.00016
NM_000137.4(FAH):c.150T>C (p.Phe50=) rs186471906 0.00016
NM_000137.4(FAH):c.741C>T (p.Leu247=) rs145851627 0.00016
NM_000159.4(GCDH):c.627C>T (p.Thr209=) rs143172809 0.00016
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00016
NM_000203.5(IDUA):c.1863A>C (p.Arg621=) rs762586 0.00016
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys) rs200237798 0.00016
NM_000203.5(IDUA):c.663C>G (p.Pro221=) rs368553582 0.00016
NM_000214.3(JAG1):c.2979C>T (p.Ser993=) rs542976402 0.00016
NM_000222.3(KIT):c.1674G>A (p.Lys558=) rs200375589 0.00016
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=) rs376041792 0.00016
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=) rs45523233 0.00016
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=) rs570316231 0.00016
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=) rs368521316 0.00016
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln) rs373274825 0.00016
NM_000419.5(ITGA2B):c.1394-14C>T rs368062044 0.00016
NM_000419.5(ITGA2B):c.2348+15G>A rs200571001 0.00016
NM_000441.2(SLC26A4):c.1804-6G>A rs377713770 0.00016
NM_000455.5(STK11):c.-461G>A rs552610464 0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_000515.5(GH1):c.468T>C (p.Asp156=) rs201849388 0.00016
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr) rs140627230 0.00016
NM_000527.5(LDLR):c.564C>T (p.Tyr188=) rs121908034 0.00016
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=) rs148945108 0.00016
NM_000540.3(RYR1):c.2319C>T (p.Asp773=) rs374924686 0.00016
NM_000540.3(RYR1):c.4257C>T (p.Asn1419=) rs36042816 0.00016
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=) rs149185729 0.00016
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) rs144777676 0.00016
NM_000628.5(IL10RB):c.763G>A (p.Ala255Thr) rs182875134 0.00016
NM_000642.3(AGL):c.4575T>A (p.Ile1525=) rs372116308 0.00016
NM_000709.4(BCKDHA):c.420G>A (p.Thr140=) rs143608852 0.00016
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116 0.00016
NM_001002755.4(NFU1):c.62+10G>A rs773351968 0.00016
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp) rs547005691 0.00016
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623 0.00016
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His) rs373024059 0.00016
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690 0.00016
NM_001040108.2(MLH3):c.713A>C (p.Tyr238Ser) rs144707485 0.00016
NM_001126108.2(SLC12A3):c.2160C>T (p.Gly720=) rs147984554 0.00016
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354 0.00016
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909 0.00016
NM_001134363.3(RBM20):c.2145C>T (p.Pro715=) rs764304126 0.00016
NM_001142800.2(EYS):c.5883T>G (p.Thr1961=) rs779530881 0.00016
NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu) rs367626762 0.00016
NM_001164508.2(NEB):c.3444G>A (p.Ala1148=) rs375569766 0.00016
NM_001164508.2(NEB):c.3879+8G>A rs376511134 0.00016
NM_001164508.2(NEB):c.5420C>T (p.Ala1807Val) rs373790988 0.00016
NM_001164508.2(NEB):c.7227+13T>G rs373818296 0.00016
NM_001164508.2(NEB):c.8490G>A (p.Arg2830=) rs368217121 0.00016
NM_001182.5(ALDH7A1):c.393+15T>C rs183254966 0.00016
NM_001277115.2(DNAH11):c.13398C>T (p.Pro4466=) rs72658836 0.00016
NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=) rs202002028 0.00016
NM_001369369.1(FOXN1):c.1886C>T (p.Thr629Met) rs368962978 0.00016
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737 0.00016
NM_001377.3(DYNC2H1):c.5313A>G (p.Val1771=) rs144553338 0.00016
NM_001384474.1(LOXHD1):c.5985C>T (p.Asp1995=) rs559560065 0.00016
NM_001844.5(COL2A1):c.1023+3G>A rs374570848 0.00016
NM_002234.4(KCNA5):c.1672G>A (p.Gly558Arg) rs201328038 0.00016
NM_002234.4(KCNA5):c.36T>C (p.Gly12=) rs886049572 0.00016
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=) rs144495959 0.00016
NM_002292.4(LAMB2):c.1797C>T (p.Phe599=) rs376785056 0.00016
NM_002386.4(MC1R):c.492C>T (p.Ala164=) rs367985661 0.00016
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=) rs147605116 0.00016
NM_002474.3(MYH11):c.3309C>T (p.Ile1103=) rs370854451 0.00016
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=) rs771742318 0.00016
NM_002633.3(PGM1):c.900T>C (p.His300=) rs145807501 0.00016
NM_002778.4(PSAP):c.*376A>G rs141906397 0.00016
NM_002778.4(PSAP):c.*737G>A rs147046509 0.00016
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu) rs75783492 0.00016
NM_004525.3(LRP2):c.12687T>C (p.Gly4229=) rs140195786 0.00016
NM_005271.5(GLUD1):c.1402+10G>A rs202067232 0.00016
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr) rs373522639 0.00016
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp) rs190548494 0.00016
NM_005902.4(SMAD3):c.984G>A (p.Pro328=) rs150994304 0.00016
NM_006031.6(PCNT):c.8401G>C (p.Val2801Leu) rs138868039 0.00016
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu) rs146152769 0.00016
NM_006348.5(COG5):c.454T>C (p.Leu152=) rs200107630 0.00016
NM_006371.5(CRTAP):c.654C>T (p.Asn218=) rs144486582 0.00016
NM_006623.4(PHGDH):c.1257G>A (p.Gly419=) rs374303746 0.00016
NM_006757.4(TNNT3):c.480+9C>T rs374137056 0.00016
NM_006949.4(STXBP2):c.1027-10C>T rs201961771 0.00016
NM_014141.6(CNTNAP2):c.3600G>A (p.Ser1200=) rs117876038 0.00016
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser) rs200982805 0.00016
NM_014363.6(SACS):c.12765G>A (p.Arg4255=) rs139692779 0.00016
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr) rs76872266 0.00016
NM_014363.6(SACS):c.4302A>G (p.Leu1434=) rs34559250 0.00016
NM_014855.3(AP5Z1):c.1965G>A (p.Ser655=) rs543467648 0.00016
NM_015272.5(RPGRIP1L):c.3616+7A>G rs373003699 0.00016
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=) rs150942110 0.00016
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=) rs142509316 0.00016
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys) rs201166295 0.00016
NM_018344.6(SLC29A3):c.987C>T (p.Asn329=) rs147814367 0.00016
NM_021615.5(CHST6):c.301C>T (p.Leu101=) rs373160858 0.00016
NM_022124.6(CDH23):c.2176+12C>T rs371967419 0.00016
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938 0.00016
NM_025137.4(SPG11):c.2169C>T (p.Gly723=) rs371338650 0.00016
NM_025137.4(SPG11):c.5315G>A (p.Arg1772His) rs150823040 0.00016
NM_025216.3(WNT10A):c.1017C>T (p.Phe339=) rs531326479 0.00016
NM_030777.4(SLC2A10):c.780C>T (p.Ser260=) rs181500247 0.00016
NM_052813.5(CARD9):c.1260G>A (p.Thr420=) rs142757984 0.00016
NM_053013.4(ENO3):c.249C>T (p.Ser83=) rs145859308 0.00016
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=) rs370153686 0.00016
NM_054012.4(ASS1):c.174+4C>A rs368133957 0.00016
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His) rs200497761 0.00016
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=) rs200511208 0.00016
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=) rs138989655 0.00016
NM_138694.4(PKHD1):c.633G>A (p.Gly211=) rs144025892 0.00016
NM_139343.3(BIN1):c.1003-13C>T rs374490688 0.00016
NM_145200.5(CABP4):c.242C>T (p.Ala81Val) rs148140510 0.00016
NM_152383.5(DIS3L2):c.2424G>A (p.Gln808=) rs369113667 0.00016
NM_152564.5(VPS13B):c.11656G>A (p.Val3886Ile) rs141793014 0.00016
NM_152564.5(VPS13B):c.3083-9C>T rs376659281 0.00016
NM_152783.5(D2HGDH):c.768C>T (p.Ile256=) rs377034676 0.00016
NM_182760.4(SUMF1):c.606G>A (p.Pro202=) rs141957829 0.00016
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys) rs780425464 0.00015
NM_000026.4(ADSL):c.357+6C>T rs181628906 0.00015
NM_000038.6(APC):c.6985A>G (p.Ile2329Val) rs146048493 0.00015
NM_000092.5(COL4A4):c.2430C>G (p.Gly810=) rs769363556 0.00015
NM_000094.4(COL7A1):c.59G>C (p.Arg20Pro) rs755340663 0.00015
NM_000094.4(COL7A1):c.630C>T (p.Leu210=) rs117857033 0.00015
NM_000135.4(FANCA):c.1413C>T (p.Val471=) rs201561753 0.00015
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599 0.00015
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=) rs149697299 0.00015
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324 0.00015
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro) rs190496263 0.00015
NM_000211.5(ITGB2):c.228C>T (p.Asp76=) rs368629638 0.00015
NM_000222.3(KIT):c.2484C>T (p.Asn828=) rs141347955 0.00015
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met) rs374691153 0.00015
NM_000271.5(NPC1):c.1948-11G>A rs371122321 0.00015
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr) rs373435883 0.00015
NM_000302.4(PLOD1):c.897G>A (p.Pro299=) rs199946373 0.00015
NM_000396.4(CTSK):c.169A>G (p.Ile57Val) rs201446793 0.00015
NM_000492.4(CFTR):c.360G>A (p.Ala120=) rs1800077 0.00015
NM_000540.3(RYR1):c.3924G>C (p.Pro1308=) rs144350050 0.00015
NM_000601.6(HGF):c.471A>G (p.Pro157=) rs142045938 0.00015
NM_001005242.3(PKP2):c.195C>T (p.Ala65=) rs397517014 0.00015
NM_001042432.2(CLN3):c.677+8G>A rs368568189 0.00015
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001114753.3(ENG):c.321G>T (p.Leu107=) rs767907933 0.00015
NM_001160372.4(TRAPPC9):c.3136C>T (p.Arg1046Trp) rs376617920 0.00015
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) rs186234393 0.00015
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr) rs45520032 0.00015
NM_001277115.2(DNAH11):c.9869C>G (p.Ser3290Cys) rs201494403 0.00015
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr) rs373632943 0.00015
NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=) rs142961295 0.00015
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr) rs201003494 0.00015
NM_001384474.1(LOXHD1):c.3951C>A (p.Val1317=) rs779507390 0.00015
NM_001558.4(IL10RA):c.1283C>T (p.Pro428Leu) rs752519410 0.00015
NM_001613.4(ACTA2):c.174C>T (p.Asp58=) rs150547139 0.00015
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln) rs149241435 0.00015
NM_002693.3(POLG):c.1356T>C (p.Tyr452=) rs3176179 0.00015
NM_003849.4(SUCLG1):c.395C>G (p.Ala132Gly) rs376171433 0.00015
NM_004320.6(ATP2A1):c.1722G>A (p.Glu574=) rs145043756 0.00015
NM_004453.4(ETFDH):c.972+13C>T rs199589412 0.00015
NM_006005.3(WFS1):c.2667G>A (p.Ala889=) rs71526454 0.00015
NM_014339.7(IL17RA):c.1046G>C (p.Gly349Ala) rs143897670 0.00015
NM_014363.6(SACS):c.10298C>T (p.Thr3433Ile) rs200991790 0.00015
NM_014363.6(SACS):c.3345C>T (p.Val1115=) rs143287019 0.00015
NM_015627.3(LDLRAP1):c.375C>T (p.His125=) rs146134293 0.00015
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=) rs143642515 0.00015
NM_024105.4(ALG12):c.55G>A (p.Ala19Thr) rs138266806 0.00015
NM_024513.4(FYCO1):c.2037G>A (p.Ala679=) rs373400491 0.00015
NM_024589.3(ROGDI):c.823-15C>T rs372520122 0.00015
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val) rs201393026 0.00015
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro) rs199900211 0.00015
NM_138694.4(PKHD1):c.658G>A (p.Asp220Asn) rs199897497 0.00015
NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn) rs201066635 0.00015
NM_138711.6(PPARG):c.417G>A (p.Leu139=) rs41415646 0.00015
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003 0.00015
NM_198525.3(KIF7):c.952G>A (p.Ala318Thr) rs756368261 0.00015
NM_000017.4(ACADS):c.825C>T (p.Ile275=) rs200652158 0.00014
NM_000018.4(ACADVL):c.1227G>A (p.Thr409=) rs778531268 0.00014
NM_000022.4(ADA):c.591T>A (p.His197Gln) rs142456343 0.00014
NM_000037.4(ANK1):c.4341T>C (p.Ser1447=) rs112677283 0.00014
NM_000037.4(ANK1):c.5601G>A (p.Ala1867=) rs150975400 0.00014
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp) rs147600485 0.00014
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe) rs200563529 0.00014
NM_000081.4(LYST):c.7806A>G (p.Gln2602=) rs372754364 0.00014
NM_000091.5(COL4A3):c.3751+7G>A rs750554079 0.00014
NM_000130.5(F5):c.4333A>G (p.Thr1445Ala) rs200204656 0.00014
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=) rs779913610 0.00014
NM_000147.5(FUCA1):c.405G>A (p.Thr135=) rs145153173 0.00014
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999 0.00014
NM_000155.4(GALT):c.688-4C>T rs374014228 0.00014
NM_000158.4(GBE1):c.45G>A (p.Glu15=) rs370326965 0.00014
NM_000162.5(GCK):c.213C>T (p.Val71=) rs143128547 0.00014
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg) rs267608051 0.00014
NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg) rs201816520 0.00014
NM_000211.5(ITGB2):c.159G>A (p.Gly53=) rs200150384 0.00014
NM_000222.3(KIT):c.2234-3C>T rs370131461 0.00014
NM_000233.4(LHCGR):c.54G>A (p.Gln18=) rs780848944 0.00014
NM_000246.4(CIITA):c.1542G>A (p.Thr514=) rs2228239 0.00014
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp) rs11553676 0.00014
NM_000303.3(PMM2):c.634A>G (p.Met212Val) rs3743808 0.00014
NM_000343.4(SLC5A1):c.1809G>A (p.Arg603=) rs200228396 0.00014
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=) rs201602424 0.00014
NM_000368.5(TSC1):c.2209-3T>C rs368309229 0.00014
NM_000426.4(LAMA2):c.7395T>C (p.Asp2465=) rs140483001 0.00014
NM_000433.4(NCF2):c.197G>A (p.Arg66Gln) rs142803799 0.00014
NM_000465.4(BARD1):c.279A>G (p.Gln93=) rs370000575 0.00014
NM_000466.3(PEX1):c.3250A>G (p.Met1084Val) rs781277635 0.00014
NM_000481.4(AMT):c.858C>A (p.Gly286=) rs367726589 0.00014
NM_000484.4(APP):c.1689T>C (p.Asp563=) rs137865262 0.00014
NM_000492.4(CFTR):c.2559T>C (p.Ile853=) rs1800104 0.00014
NM_000540.3(RYR1):c.2676C>T (p.Tyr892=) rs375402078 0.00014
NM_000540.3(RYR1):c.8442G>A (p.Lys2814=) rs771306571 0.00014
NM_000642.3(AGL):c.846+14G>A rs376827010 0.00014
NM_000751.3(CHRND):c.1367A>G (p.Asn456Ser) rs144433265 0.00014
NM_001005373.4(LRSAM1):c.894G>A (p.Thr298=) rs771491533 0.00014
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val) rs148492494 0.00014
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=) rs112329020 0.00014
NM_001082971.2(DDC):c.366C>T (p.Leu122=) rs377528325 0.00014
NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=) rs150378634 0.00014
NM_001127644.2(GABRA1):c.-4C>T rs375475234 0.00014
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His) rs147678255 0.00014
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile) rs397516596 0.00014
NM_001134363.3(RBM20):c.3512C>T (p.Thr1171Met) rs371181124 0.00014
NM_001164508.2(NEB):c.21861G>A (p.Arg7287=) rs372808358 0.00014
NM_001164508.2(NEB):c.22642A>G (p.Lys7548Glu) rs201976154 0.00014
NM_001164508.2(NEB):c.7342C>T (p.Arg2448Cys) rs576076237 0.00014
NM_001256545.2(MEGF10):c.2980+14A>G rs370563737 0.00014
NM_001277115.2(DNAH11):c.3425+5C>G rs776140118 0.00014
NM_001355436.2(SPTB):c.2250C>T (p.Gly750=) rs200908449 0.00014
NM_001358530.2(MOCS1):c.758-9C>T rs368402544 0.00014
NM_001365536.1(SCN9A):c.*2078C>T rs548072061 0.00014
NM_001376.5(DYNC1H1):c.12102+6G>A rs377669980 0.00014
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=) rs376746356 0.00014
NM_001457.4(FLNB):c.4590T>C (p.Tyr1530=) rs141477764 0.00014
NM_001457.4(FLNB):c.864C>T (p.Asp288=) rs141151998 0.00014
NM_001770.6(CD19):c.390T>A (p.Gly130=) rs573154781 0.00014
NM_002225.5(IVD):c.879-5G>A rs750569823 0.00014
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=) rs199564260 0.00014
NM_002474.3(MYH11):c.5247G>A (p.Gln1749=) rs757501817 0.00014
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) rs112948385 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_003060.4(SLC22A5):c.1440C>T (p.Phe480=) rs150457229 0.00014
NM_003331.5(TYK2):c.2102G>C (p.Arg701Thr) rs200791116 0.00014
NM_003560.4(PLA2G6):c.2259C>T (p.Val753=) rs749966284 0.00014
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys) rs3737311 0.00014
NM_003664.5(AP3B1):c.2345C>T (p.Ser782Phe) rs143589037 0.00014
NM_003721.4(RFXANK):c.660C>T (p.Ala220=) rs138423094 0.00014
NM_003850.3(SUCLA2):c.21C>T (p.Tyr7=) rs374479008 0.00014
NM_003859.3(DPM1):c.759A>G (p.Leu253=) rs769964944 0.00014
NM_004035.7(ACOX1):c.1695T>C (p.Tyr565=) rs774049893 0.00014
NM_004181.5(UCHL1):c.457C>T (p.Arg153Trp) rs139583787 0.00014
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835 0.00014
NM_004453.4(ETFDH):c.1518G>A (p.Glu506=) rs146882697 0.00014
NM_005535.3(IL12RB1):c.1764C>T (p.Ser588=) rs368969256 0.00014
NM_005546.4(ITK):c.1119A>G (p.Gln373=) rs189091977 0.00014
NM_005787.6(ALG3):c.606-8C>T rs368253820 0.00014
NM_006005.3(WFS1):c.1399C>T (p.Leu467=) rs142700542 0.00014
NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val) rs199827643 0.00014
NM_012203.2(GRHPR):c.336C>T (p.Ala112=) rs148778319 0.00014
NM_014140.4(SMARCAL1):c.1413C>T (p.Ile471=) rs149599324 0.00014
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His) rs201167346 0.00014
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu) rs145267929 0.00014
NM_014855.3(AP5Z1):c.684C>T (p.Ser228=) rs746349613 0.00014
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=) rs141201084 0.00014
NM_015272.5(RPGRIP1L):c.530-15T>C rs368728064 0.00014
NM_015915.5(ATL1):c.1152A>G (p.Pro384=) rs377127492 0.00014
NM_017636.4(TRPM4):c.742C>T (p.Arg248Cys) rs373749900 0.00014
NM_017668.3(NDE1):c.990G>A (p.Arg330=) rs143588920 0.00014
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=) rs146237009 0.00014
NM_018344.6(SLC29A3):c.1347G>A (p.Thr449=) rs373404056 0.00014
NM_020297.4(ABCC9):c.1332C>T (p.Gly444=) rs369830406 0.00014
NM_020297.4(ABCC9):c.3316-4A>C rs201147809 0.00014
NM_020533.3(MCOLN1):c.856C>A (p.His286Asn) rs145191057 0.00014
NM_020975.6(RET):c.2988G>A (p.Pro996=) rs145798106 0.00014
NM_022124.6(CDH23):c.7362+14G>A rs78158757 0.00014
NM_022124.6(CDH23):c.8309-3C>T rs371910002 0.00014
NM_022367.4(SEMA4A):c.90C>T (p.Thr30=) rs373565051 0.00014
NM_024685.4(BBS10):c.372T>A (p.Ser124=) rs143366878 0.00014
NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys) rs193229946 0.00014
NM_025137.4(SPG11):c.6877C>T (p.Arg2293Trp) rs151317653 0.00014
NM_052845.4(MMAB):c.678T>C (p.Tyr226=) rs111678627 0.00014
NM_052859.4(RFT1):c.136G>A (p.Val46Ile) rs141174358 0.00014
NM_052989.3(IFT122):c.2577G>A (p.Glu859=) rs201077232 0.00014
NM_053025.4(MYLK):c.2919G>A (p.Pro973=) rs149482336 0.00014
NM_053025.4(MYLK):c.3438C>T (p.Leu1146=) rs146320279 0.00014
NM_053025.4(MYLK):c.3915C>T (p.Cys1305=) rs371602931 0.00014
NM_054012.4(ASS1):c.1165A>G (p.Thr389Ala) rs145288815 0.00014
NM_054012.4(ASS1):c.858A>T (p.Ala286=) rs201905628 0.00014
NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=) rs146962984 0.00014
NM_133433.4(NIPBL):c.2448T>C (p.Arg816=) rs139177541 0.00014
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=) rs776570716 0.00014
NM_138959.3(VANGL1):c.231G>A (p.Thr77=) rs186509771 0.00014
NM_139343.3(BIN1):c.1003-11C>G rs759676621 0.00014
NM_139343.3(BIN1):c.681G>A (p.Leu227=) rs199658397 0.00014
NM_152564.5(VPS13B):c.1843+10T>C rs371154826 0.00014
NM_152564.5(VPS13B):c.2333+12A>T rs373498932 0.00014
NM_152564.5(VPS13B):c.3083-8G>A rs201973611 0.00014
NM_152564.5(VPS13B):c.4746-7T>C rs201136777 0.00014
NM_152564.5(VPS13B):c.5223C>A (p.Ile1741=) rs144223843 0.00014
NM_152783.5(D2HGDH):c.1515G>A (p.Leu505=) rs376268002 0.00014
NM_153603.4(COG7):c.1972G>A (p.Ala658Thr) rs115073082 0.00014
NM_153603.4(COG7):c.904G>A (p.Val302Met) rs116314856 0.00014
NM_198904.4(GABRG2):c.243T>A (p.Leu81=) rs143295869 0.00014
NM_201525.4(ADGRG1):c.1188C>T (p.Asp396=) rs368883473 0.00014
NM_201525.4(ADGRG1):c.1287-6G>A rs112805221 0.00014
NM_000037.4(ANK1):c.2982G>A (p.Pro994=) rs139623406 0.00013
NM_000046.5(ARSB):c.1533C>T (p.Pro511=) rs528157833 0.00013
NM_000048.4(ASL):c.1056G>A (p.Thr352=) rs745476328 0.00013
NM_000051.4(ATM):c.8671+9T>G rs200190537 0.00013
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr) rs139289704 0.00013
NM_000053.4(ATP7B):c.1544-12T>C rs201167060 0.00013
NM_000057.4(BLM):c.3828G>A (p.Ala1276=) rs369383272 0.00013
NM_000057.4(BLM):c.4113G>A (p.Thr1371=) rs61754135 0.00013
NM_000070.3(CAPN3):c.1800+12G>A rs542523863 0.00013
NM_000094.4(COL7A1):c.2277C>T (p.Gly759=) rs144756110 0.00013
NM_000096.4(CP):c.93G>A (p.Thr31=) rs201521886 0.00013
NM_000130.5(F5):c.4347G>A (p.Pro1449=) rs145732153 0.00013
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354 0.00013
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664 0.00013
NM_000187.4(HGD):c.1176C>T (p.Ala392=) rs368805723 0.00013
NM_000198.4(HSD3B2):c.308-8G>A rs371712928 0.00013
NM_000211.5(ITGB2):c.714C>T (p.Asp238=) rs752901414 0.00013
NM_000237.3(LPL):c.528C>G (p.Val176=) rs199606532 0.00013
NM_000246.4(CIITA):c.3003C>T (p.Asp1001=) rs143497260 0.00013
NM_000274.4(OAT):c.1160-13T>A rs372850085 0.00013
NM_000274.4(OAT):c.736C>T (p.Leu246=) rs146882296 0.00013
NM_000293.3(PHKB):c.2197-10A>T rs750018974 0.00013
NM_000350.3(ABCA4):c.741C>T (p.Asn247=) rs372976742 0.00013
NM_000387.6(SLC25A20):c.535+6C>T rs199770033 0.00013
NM_000426.4(LAMA2):c.3429C>A (p.Ile1143=) rs200646230 0.00013
NM_000426.4(LAMA2):c.8298C>T (p.Phe2766=) rs145295628 0.00013
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000540.3(RYR1):c.2654G>A (p.Arg885His) rs370634440 0.00013
NM_000540.3(RYR1):c.8079G>A (p.Pro2693=) rs368063600 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=) rs397516524 0.00013
NM_001035.3(RYR2):c.5373C>A (p.Thr1791=) rs765283048 0.00013
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=) rs199730192 0.00013
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=) rs371581213 0.00013
NM_001130823.3(DNMT1):c.2667C>T (p.Tyr889=) rs199832007 0.00013
NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn) rs139194093 0.00013
NM_001130987.2(DYSF):c.5785-8C>T rs201191038 0.00013
NM_001164508.2(NEB):c.1119G>A (p.Arg373=) rs200914626 0.00013
NM_001355436.2(SPTB):c.5943C>T (p.Arg1981=) rs75000411 0.00013
NM_001365088.1(SLC12A6):c.2565G>A (p.Thr855=) rs201062811 0.00013
NM_001369369.1(FOXN1):c.497C>T (p.Ala166Val) rs367793349 0.00013
NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu) rs147750747 0.00013
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp) rs201994383 0.00013
NM_001457.4(FLNB):c.1748-5C>G rs369919081 0.00013
NM_001457.4(FLNB):c.4873G>A (p.Ala1625Thr) rs200727113 0.00013
NM_001457.4(FLNB):c.6028C>T (p.Arg2010Cys) rs138034708 0.00013
NM_001457.4(FLNB):c.7641C>T (p.Ile2547=) rs139582437 0.00013
NM_001943.5(DSG2):c.45+9C>G rs376573409 0.00013
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681 0.00013
NM_002234.4(KCNA5):c.1329C>T (p.Ile443=) rs147209278 0.00013
NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg) rs138608619 0.00013
NM_002778.4(PSAP):c.557G>A (p.Arg186His) rs138880818 0.00013
NM_003227.4(TFR2):c.1863C>T (p.Ala621=) rs374489702 0.00013
NM_003982.4(SLC7A7):c.339A>C (p.Gly113=) rs139270936 0.00013
NM_004239.4(TRIP11):c.2357A>C (p.Asp786Ala) rs201394520 0.00013
NM_004273.5(CHST3):c.570C>T (p.Asp190=) rs367857089 0.00013
NM_004304.5(ALK):c.3173-11C>T rs79339096 0.00013
NM_004415.4(DSP):c.1575-15C>G rs369184165 0.00013
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) rs141508330 0.00013
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) rs13447325 0.00013
NM_006348.5(COG5):c.1686+7A>G rs373280339 0.00013
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878 0.00013
NM_014141.6(CNTNAP2):c.1777+7G>A rs770951811 0.00013
NM_014141.6(CNTNAP2):c.209-11C>T rs369056998 0.00013
NM_014141.6(CNTNAP2):c.939+14C>T rs370916766 0.00013
NM_014339.7(IL17RA):c.847-14C>G rs201410617 0.00013
NM_014714.4(IFT140):c.3147C>T (p.Asn1049=) rs150129370 0.00013
NM_014908.4(DOLK):c.633C>T (p.Arg211=) rs147647278 0.00013
NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=) rs189186909 0.00013
NM_015192.4(PLCB1):c.724G>A (p.Val242Ile) rs200567140 0.00013
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp) rs34258482 0.00013
NM_015702.3(MMADHC):c.-60G>A rs886054923 0.00013
NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=) rs377461918 0.00013
NM_016247.4(IMPG2):c.335-16_335-15del rs756480190 0.00013
NM_018389.5(SLC35C1):c.747C>T (p.Leu249=) rs567642788 0.00013
NM_018714.3(COG1):c.560+15C>T rs201364732 0.00013
NM_020533.3(MCOLN1):c.216G>A (p.Lys72=) rs369176493 0.00013
NM_021922.3(FANCE):c.274C>T (p.Arg92Trp) rs375195621 0.00013
NM_021957.4(GYS2):c.1890+12A>G rs192853475 0.00013
NM_022124.6(CDH23):c.1803C>G (p.Val601=) rs201024982 0.00013
NM_022367.4(SEMA4A):c.1694-13C>G rs144540956 0.00013
NM_024422.6(DSC2):c.1788G>A (p.Ala596=) rs146161960 0.00013
NM_024577.4(SH3TC2):c.3049G>A (p.Ala1017Thr) rs186029710 0.00013
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843 0.00013
NM_025137.4(SPG11):c.2245-13A>G rs200426807 0.00013
NM_032382.5(COG8):c.525G>A (p.Leu175=) rs187905134 0.00013
NM_032581.4(HYCC1):c.1515A>G (p.Gln505=) rs373948210 0.00013
NM_032634.4(PIGO):c.3070-12C>G rs199864376 0.00013
NM_033159.4(HYAL1):c.168C>T (p.Phe56=) rs369935445 0.00013
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460 0.00013
NM_133459.4(CCBE1):c.843A>T (p.Pro281=) rs191592668 0.00013
NM_144599.5(NIPA1):c.753G>C (p.Ala251=) rs199718530 0.00013
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly) rs201566948 0.00013
NM_152564.5(VPS13B):c.365C>T (p.Pro122Leu) rs201723380 0.00013
NM_170707.4(LMNA):c.1488+14C>T rs377700689 0.00013
NM_198525.3(KIF7):c.1922+13C>T rs376321790 0.00013
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=) rs148907696 0.00013
NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln) rs747390615 0.00013
NM_213599.3(ANO5):c.2256G>A (p.Thr752=) rs144048656 0.00013
NM_000038.6(APC):c.450A>G (p.Lys150=) rs116020626 0.00012
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262 0.00012
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=) rs145887771 0.00012
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000070.3(CAPN3):c.552G>A (p.Thr184=) rs147808529 0.00012
NM_000137.4(FAH):c.864C>T (p.Cys288=) rs370273424 0.00012
NM_000154.2(GALK1):c.1044C>T (p.Phe348=) rs372653001 0.00012
NM_000199.5(SGSH):c.534C>T (p.His178=) rs139484283 0.00012
NM_000215.4(JAK3):c.896T>C (p.Val299Ala) rs571404212 0.00012
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=) rs368035400 0.00012
NM_000294.3(PHKG2):c.1051G>A (p.Asp351Asn) rs151033581 0.00012
NM_000302.4(PLOD1):c.1182G>C (p.Arg394=) rs144439284 0.00012
NM_000341.4(SLC3A1):c.417C>T (p.Asn139=) rs150870922 0.00012
NM_000350.3(ABCA4):c.5076C>T (p.Phe1692=) rs148351929 0.00012
NM_000359.3(TGM1):c.885C>T (p.His295=) rs186352813 0.00012
NM_000426.4(LAMA2):c.4993G>A (p.Gly1665Arg) rs373997222 0.00012
NM_000429.3(MAT1A):c.981G>A (p.Pro327=) rs149163315 0.00012
NM_000465.4(BARD1):c.1152C>T (p.Ser384=) rs368291318 0.00012
NM_000481.4(AMT):c.961G>A (p.Val321Met) rs149457059 0.00012
NM_000501.4(ELN):c.710G>C (p.Gly237Ala) rs934014841 0.00012
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030 0.00012
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) rs140994965 0.00012
NM_001080476.3(GRXCR1):c.825G>A (p.Thr275=) rs370629848 0.00012
NM_001122769.3(LCA5):c.1260G>A (p.Lys420=) rs141642284 0.00012
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His) rs199879861 0.00012
NM_001130987.2(DYSF):c.2593C>T (p.Arg865Trp) rs200487610 0.00012
NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=) rs149087116 0.00012
NM_001145809.2(MYH14):c.3819C>T (p.Ala1273=) rs750779364 0.00012
NM_001164508.2(NEB):c.16984G>A (p.Ala5662Thr) rs375294508 0.00012
NM_001164508.2(NEB):c.18800T>C (p.Leu6267Pro) rs184723737 0.00012
NM_001164508.2(NEB):c.2823G>A (p.Ala941=) rs376849181 0.00012
NM_001164508.2(NEB):c.293C>T (p.Pro98Leu) rs201473194 0.00012
NM_001164508.2(NEB):c.6624G>A (p.Pro2208=) rs373278622 0.00012
NM_001358530.2(MOCS1):c.1413C>T (p.Ala471=) rs745789021 0.00012
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) rs745404679 0.00012
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=) rs186864136 0.00012
NM_001377.3(DYNC2H1):c.5177G>A (p.Arg1726Gln) rs564701277 0.00012
NM_001377.3(DYNC2H1):c.9231+12G>A rs369045696 0.00012
NM_001457.4(FLNB):c.1640C>T (p.Ala547Val) rs200619215 0.00012
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr) rs201817670 0.00012
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563 0.00012
NM_001999.4(FBN2):c.2990-14C>T rs377500777 0.00012
NM_002185.5(IL7R):c.760G>A (p.Ala254Thr) rs137868226 0.00012
NM_002292.4(LAMB2):c.1206G>A (p.Arg402=) rs201999373 0.00012
NM_002292.4(LAMB2):c.5286T>C (p.Asn1762=) rs781092208 0.00012
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_003240.5(LEFTY2):c.738-9C>T rs576554454 0.00012
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val) rs200912109 0.00012
NM_004415.4(DSP):c.7125G>A (p.Gly2375=) rs141709096 0.00012
NM_004525.3(LRP2):c.12756C>T (p.Asp4252=) rs201793817 0.00012
NM_006005.3(WFS1):c.728C>T (p.Ala243Val) rs147147660 0.00012
NM_006623.4(PHGDH):c.390C>T (p.Asp130=) rs148078511 0.00012
NM_006623.4(PHGDH):c.644-12G>A rs370255821 0.00012
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) rs144731446 0.00012
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_012144.4(DNAI1):c.1929C>A (p.Ile643=) rs146434058 0.00012
NM_013435.3(RAX):c.612G>A (p.Leu204=) rs753579122 0.00012
NM_014000.3(VCL):c.2796T>C (p.Asp932=) rs140308982 0.00012
NM_014244.5(ADAMTS2):c.1815C>T (p.Tyr605=) rs369654932 0.00012
NM_014244.5(ADAMTS2):c.2994G>T (p.Arg998=) rs780314895 0.00012
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly) rs142236568 0.00012
NM_014339.7(IL17RA):c.561C>T (p.His187=) rs371342533 0.00012
NM_014363.6(SACS):c.1081A>G (p.Lys361Glu) rs377027736 0.00012
NM_014714.4(IFT140):c.2768+12C>T rs756491638 0.00012
NM_014908.4(DOLK):c.1446G>A (p.Ala482=) rs201027607 0.00012
NM_015192.4(PLCB1):c.1761A>G (p.Val587=) rs143755415 0.00012
NM_016219.5(MAN1B1):c.768C>T (p.Val256=) rs145906530 0.00012
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=) rs146933218 0.00012
NM_018714.3(COG1):c.1230G>A (p.Pro410=) rs148502827 0.00012
NM_018714.3(COG1):c.384G>A (p.Pro128=) rs142827255 0.00012
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys) rs200518324 0.00012
NM_021957.4(GYS2):c.630G>A (p.Gly210=) rs201503558 0.00012
NM_022098.4(XPNPEP3):c.718A>T (p.Ile240Leu) rs137859412 0.00012
NM_022124.6(CDH23):c.2235C>T (p.Ile745=) rs368841307 0.00012
NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=) rs192607073 0.00012
NM_032409.3(PINK1):c.1251+10G>A rs192131551 0.00012
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=) rs377105091 0.00012
NM_053025.4(MYLK):c.4336G>A (p.Glu1446Lys) rs146682969 0.00012
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=) rs201769990 0.00012
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=) rs376709130 0.00012
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=) rs200730851 0.00012
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala) rs149866274 0.00012
NM_198578.4(LRRK2):c.177T>A (p.Asn59Lys) rs150422099 0.00012
NM_000018.4(ACADVL):c.1239A>G (p.Ile413Met) rs143172658 0.00011
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) rs369664123 0.00011
NM_000030.3(AGXT):c.885G>A (p.Ala295=) rs377132245 0.00011
NM_000037.4(ANK1):c.3234C>T (p.Pro1078=) rs755219802 0.00011
NM_000037.4(ANK1):c.3288G>A (p.Pro1096=) rs140964621 0.00011
NM_000037.4(ANK1):c.3984+12C>T rs200019819 0.00011
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507 0.00011
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=) rs370947152 0.00011
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926 0.00011
NM_000079.4(CHRNA1):c.1002+9G>A rs368959759 0.00011
NM_000098.3(CPT2):c.45G>T (p.Ala15=) rs761850684 0.00011
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys) rs56005131 0.00011
NM_000138.5(FBN1):c.1821T>C (p.Asp607=) rs149133920 0.00011
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=) rs760425899 0.00011
NM_000141.5(FGFR2):c.625-10A>G rs201512833 0.00011
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302 0.00011
NM_000155.4(GALT):c.378-12G>A rs151309174 0.00011
NM_000162.5(GCK):c.363+9C>T rs200985182 0.00011
NM_000169.3(GLA):c.48T>G (p.Leu16=) rs201449986 0.00011
NM_000170.3(GLDC):c.1926+6T>C rs200007891 0.00011
NM_000170.3(GLDC):c.2149A>G (p.Ile717Val) rs117460214 0.00011
NM_000179.3(MSH6):c.628-7C>A rs373129248 0.00011
NM_000187.4(HGD):c.141G>A (p.Ser47=) rs541268108 0.00011
NM_000198.4(HSD3B2):c.423C>T (p.His141=) rs751470493 0.00011
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr) rs746809894 0.00011
NM_000211.5(ITGB2):c.537C>T (p.Phe179=) rs371548080 0.00011
NM_000215.4(JAK3):c.119G>A (p.Arg40His) rs56384680 0.00011
NM_000215.4(JAK3):c.649G>A (p.Val217Met) rs202167678 0.00011
NM_000218.3(KCNQ1):c.*266G>A rs113029000 0.00011
NM_000222.3(KIT):c.978C>T (p.Asn326=) rs148594615 0.00011
NM_000230.3(LEP):c.21C>T (p.Cys7=) rs201523305 0.00011
NM_000238.4(KCNH2):c.1641G>A (p.Ala547=) rs149902084 0.00011
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn) rs756322372 0.00011
NM_000246.4(CIITA):c.2405G>A (p.Arg802Gln) rs201182990 0.00011
NM_000251.3(MSH2):c.198C>T (p.Tyr66=) rs730881784 0.00011
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) rs202080237 0.00011
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576 0.00011
NM_000271.5(NPC1):c.1431G>A (p.Thr477=) rs375307057 0.00011
NM_000274.4(OAT):c.478G>A (p.Val160Met) rs148433929 0.00011
NM_000275.3(OCA2):c.1785-7C>G rs375281082 0.00011
NM_000286.3(PEX12):c.1002G>A (p.Arg334=) rs200283718 0.00011
NM_000289.6(PFKM):c.2121G>A (p.Ser707=) rs370046842 0.00011
NM_000289.6(PFKM):c.638+15C>A rs376150217 0.00011
NM_000290.4(PGAM2):c.480T>C (p.Ile160=) rs780650903 0.00011
NM_000295.5(SERPINA1):c.1069G>A (p.Val357Met) rs373630097 0.00011
NM_000295.5(SERPINA1):c.1206T>C (p.Asn402=) rs766128806 0.00011
NM_000335.5(SCN5A):c.5364C>T (p.Asp1788=) rs375752426 0.00011
NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His) rs370262167 0.00011
NM_000360.4(TH):c.1383G>A (p.Pro461=) rs552808212 0.00011
NM_000426.4(LAMA2):c.3004G>A (p.Gly1002Ser) rs200953311 0.00011
NM_000426.4(LAMA2):c.3597T>C (p.Asp1199=) rs199904029 0.00011
NM_000426.4(LAMA2):c.6206A>G (p.Tyr2069Cys) rs117884199 0.00011
NM_000455.5(STK11):c.825G>A (p.Pro275=) rs202011521 0.00011
NM_000466.3(PEX1):c.1587+5T>C rs199526105 0.00011
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile) rs140731590 0.00011
NM_000540.3(RYR1):c.14196C>A (p.Ile4732=) rs201670423 0.00011
NM_000540.3(RYR1):c.6600G>A (p.Ala2200=) rs375640581 0.00011
NM_000543.5(SMPD1):c.349G>A (p.Val117Met) rs202206564 0.00011
NM_000543.5(SMPD1):c.909A>G (p.Ala303=) rs201134693 0.00011
NM_000642.3(AGL):c.3231G>A (p.Lys1077=) rs138063386 0.00011
NM_000817.3(GAD1):c.1120-8C>A rs113638388 0.00011
NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg) rs199653554 0.00011
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=) rs371088367 0.00011
NM_001035.3(RYR2):c.8419A>G (p.Ile2807Val) rs1394059438 0.00011
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744 0.00011
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln) rs755385132 0.00011
NM_001040716.2(PC):c.904-11C>T rs200473405 0.00011
NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=) rs143796254 0.00011
NM_001065.4(TNFRSF1A):c.1328G>T (p.Gly443Val) rs201062001 0.00011
NM_001114753.3(ENG):c.1135-8C>T rs79426098 0.00011
NM_001126108.2(SLC12A3):c.2490C>T (p.Thr830=) rs539069621 0.00011
NM_001130987.2(DYSF):c.5884+6C>T rs144355449 0.00011
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala) rs150029218 0.00011
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr) rs397516622 0.00011
NM_001164508.2(NEB):c.18860G>A (p.Arg6287His) rs200195063 0.00011
NM_001164508.2(NEB):c.19865G>A (p.Ser6622Asn) rs144168709 0.00011
NM_001164508.2(NEB):c.23927C>T (p.Ser7976Leu) rs202137113 0.00011
NM_001164508.2(NEB):c.24757A>G (p.Ile8253Val) rs551649582 0.00011
NM_001166114.2(PNPLA6):c.2939G>C (p.Gly980Ala) rs201902695 0.00011
NM_001166114.2(PNPLA6):c.4077C>T (p.Pro1359=) rs143060121 0.00011
NM_001195248.2(APTX):c.762G>A (p.Pro254=) rs571475924 0.00011
NM_001199397.3(NEK1):c.912T>C (p.Pro304=) rs139433990 0.00011
NM_001277115.2(DNAH11):c.10569-15C>T rs371205337 0.00011
NM_001330078.2(NRXN1):c.3489C>T (p.Ala1163=) rs147580960 0.00011
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832 0.00011
NM_001358530.2(MOCS1):c.583+12T>C rs199797027 0.00011
NM_001360.3(DHCR7):c.765C>T (p.Phe255=) rs200132007 0.00011
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=) rs142338762 0.00011
NM_001377.3(DYNC2H1):c.291T>A (p.Val97=) rs377529350 0.00011
NM_001377.3(DYNC2H1):c.6139+7C>T rs200749262 0.00011
NM_001378615.1(CC2D2A):c.717+11T>C rs184351317 0.00011
NM_001395413.1(POR):c.1755C>T (p.Asp585=) rs72557949 0.00011
NM_001457.4(FLNB):c.2104G>A (p.Gly702Ser) rs374090457 0.00011
NM_001457.4(FLNB):c.3753T>C (p.Phe1251=) rs751650356 0.00011
NM_001457.4(FLNB):c.762G>A (p.Pro254=) rs371715057 0.00011
NM_001609.4(ACADSB):c.960A>T (p.Ile320=) rs147531541 0.00011
NM_002076.4(GNS):c.577C>T (p.Arg193Trp) rs144220755 0.00011
NM_002435.3(MPI):c.378G>A (p.Pro126=) rs752948071 0.00011
NM_002474.3(MYH11):c.4095C>T (p.His1365=) rs374454281 0.00011
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00011
NM_002485.5(NBN):c.37+10G>C rs369408590 0.00011
NM_002529.4(NTRK1):c.279G>A (p.Leu93=) rs147983523 0.00011
NM_002617.4(PEX10):c.268C>T (p.Leu90=) rs775772867 0.00011
NM_002617.4(PEX10):c.915G>A (p.Ala305=) rs374891812 0.00011
NM_002633.3(PGM1):c.1028+11C>A rs541069522 0.00011
NM_002693.3(POLG):c.1066C>T (p.Leu356=) rs371431444 0.00011
NM_002693.3(POLG):c.87C>T (p.Ser29=) rs587781116 0.00011
NM_003060.4(SLC22A5):c.952-14T>C rs373018486 0.00011
NM_003119.4(SPG7):c.2274C>T (p.Ile758=) rs147302322 0.00011
NM_003640.5(ELP1):c.1704A>G (p.Ser568=) rs138192941 0.00011
NM_003721.4(RFXANK):c.529C>G (p.Leu177Val) rs151053440 0.00011
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys) rs11568437 0.00011
NM_003982.4(SLC7A7):c.549A>C (p.Val183=) rs146945921 0.00011
NM_004273.5(CHST3):c.423G>A (p.Thr141=) rs376107245 0.00011
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872 0.00011
NM_004415.4(DSP):c.1483G>A (p.Val495Met) rs372014020 0.00011
NM_004525.3(LRP2):c.5370A>G (p.Gln1790=) rs201155152 0.00011
NM_004525.3(LRP2):c.5553C>T (p.His1851=) rs369998522 0.00011
NM_005142.3(CBLIF):c.256+10C>T rs369960390 0.00011
NM_005535.3(IL12RB1):c.1190-13C>T rs371881148 0.00011
NM_005535.3(IL12RB1):c.1269C>T (p.His423=) rs367647802 0.00011
NM_006031.6(PCNT):c.4775T>G (p.Val1592Gly) rs141276542 0.00011
NM_006397.3(RNASEH2A):c.199+8C>G rs200834484 0.00011
NM_006397.3(RNASEH2A):c.36C>T (p.Gly12=) rs375139492 0.00011
NM_006493.4(CLN5):c.1026A>G (p.Thr342=) rs200637649 0.00011
NM_006790.3(MYOT):c.533G>A (p.Arg178His) rs150293853 0.00011
NM_012092.4(ICOS):c.597A>G (p.Leu199=) rs145698501 0.00011
NM_012213.3(MLYCD):c.1335C>T (p.Thr445=) rs373675093 0.00011
NM_012213.3(MLYCD):c.741G>T (p.Gly247=) rs376948469 0.00011
NM_012452.3(TNFRSF13B):c.126T>C (p.Pro42=) rs377551435 0.00011
NM_014244.5(ADAMTS2):c.3018C>T (p.Asp1006=) rs150535792 0.00011
NM_014252.4(SLC25A15):c.216C>T (p.Ile72=) rs572717478 0.00011
NM_014363.6(SACS):c.5841C>T (p.Pro1947=) rs145371235 0.00011
NM_014714.4(IFT140):c.2724C>T (p.Ala908=) rs138166567 0.00011
NM_015474.4(SAMHD1):c.195G>T (p.Leu65=) rs202024857 0.00011
NM_015474.4(SAMHD1):c.697-11A>G rs200458478 0.00011
NM_016123.4(IRAK4):c.13A>G (p.Ile5Val) rs56312115 0.00011
NM_017882.3(CLN6):c.585C>T (p.Gly195=) rs144507672 0.00011
NM_018136.5(ASPM):c.5846A>G (p.His1949Arg) rs186663906 0.00011
NM_018714.3(COG1):c.2511-5C>G rs201123101 0.00011
NM_018714.3(COG1):c.315+8C>T rs748732950 0.00011
NM_020366.4(RPGRIP1):c.658A>G (p.Met220Val) rs371762530 0.00011
NM_020376.4(PNPLA2):c.597C>T (p.Ser199=) rs552415591 0.00011
NM_020533.3(MCOLN1):c.1021G>A (p.Val341Ile) rs771026953 0.00011
NM_020533.3(MCOLN1):c.177G>A (p.Lys59=) rs146187044 0.00011
NM_020533.3(MCOLN1):c.24C>T (p.Arg8=) rs886527724 0.00011
NM_020975.6(RET):c.957C>A (p.Leu319=) rs149926238 0.00011
NM_022041.4(GAN):c.1323T>C (p.Tyr441=) rs368072478 0.00011
NM_022369.4(STRA6):c.1242C>T (p.Arg414=) rs568924861 0.00011
NM_024079.5(ALG8):c.1516G>A (p.Ala506Thr) rs149692072 0.00011
NM_024649.5(BBS1):c.981C>T (p.Pro327=) rs142243482 0.00011
NM_025215.6(PUS1):c.1266G>A (p.Gly422=) rs201441662 0.00011
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln) rs201192909 0.00011
NM_032520.5(GNPTG):c.510C>T (p.His170=) rs202240106 0.00011
NM_052859.4(RFT1):c.978T>C (p.Ala326=) rs372101755 0.00011
NM_080424.4(SP110):c.898+14A>G rs200753717 0.00011
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser) rs368028754 0.00011
NM_133642.5(LARGE1):c.2073+11C>T rs774384587 0.00011
NM_138694.4(PKHD1):c.10910G>A (p.Arg3637His) rs371329493 0.00011
NM_138694.4(PKHD1):c.1974C>T (p.Phe658=) rs199635188 0.00011
NM_138694.4(PKHD1):c.4304G>C (p.Ser1435Thr) rs138242579 0.00011
NM_138694.4(PKHD1):c.7221T>C (p.Phe2407=) rs199559837 0.00011
NM_152383.5(DIS3L2):c.1599C>T (p.His533=) rs760229466 0.00011
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met) rs191174682 0.00011
NM_152594.3(SPRED1):c.963G>A (p.Lys321=) rs369711772 0.00011
NM_153033.5(KCTD7):c.621C>A (p.Leu207=) rs376944331 0.00011
NM_173842.3(IL1RN):c.529G>A (p.Glu177Lys) rs114929884 0.00011
NM_182914.3(SYNE2):c.15031A>G (p.Ile5011Val) rs201269146 0.00011
NM_198525.3(KIF7):c.1390A>G (p.Ile464Val) rs570856269 0.00011
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg) rs200595273 0.00011
NM_000016.6(ACADM):c.210T>G (p.Thr70=) rs778891510 0.00010
NM_000023.4(SGCA):c.320C>T (p.Ala107Val) rs186669379 0.00010
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053 0.00010
NM_000051.4(ATM):c.6382T>C (p.Leu2128=) rs753646931 0.00010
NM_000057.4(BLM):c.2839A>G (p.Ile947Val) rs189925962 0.00010
NM_000070.3(CAPN3):c.945+15G>A rs567256305 0.00010
NM_000071.3(CBS):c.1146-12C>T rs199550738 0.00010
NM_000071.3(CBS):c.894G>A (p.Gln298=) rs370514077 0.00010
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu) rs201434993 0.00010
NM_000081.4(LYST):c.10221C>T (p.Tyr3407=) rs146457386 0.00010
NM_000081.4(LYST):c.196T>C (p.Leu66=) rs138393416 0.00010
NM_000094.4(COL7A1):c.520+9C>T rs368959634 0.00010
NM_000094.4(COL7A1):c.8095G>A (p.Glu2699Lys) rs200938473 0.00010
NM_000130.5(F5):c.2037C>G (p.Phe679Leu) rs374118662 0.00010
NM_000130.5(F5):c.5923G>C (p.Gly1975Arg) rs146312772 0.00010
NM_000137.4(FAH):c.648C>A (p.Ile216=) rs147016995 0.00010
NM_000138.5(FBN1):c.2094G>T (p.Pro698=) rs144775475 0.00010
NM_000143.4(FH):c.33G>C (p.Ser11=) rs200542051 0.00010
NM_000147.5(FUCA1):c.825A>T (p.Gly275=) rs199675692 0.00010
NM_000152.5(GAA):c.1758G>A (p.Ala586=) rs79795428 0.00010
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460 0.00010
NM_000152.5(GAA):c.2319C>T (p.Tyr773=) rs377402848 0.00010
NM_000179.3(MSH6):c.1875C>T (p.Ser625=) rs63749886 0.00010
NM_000199.5(SGSH):c.250-15C>T rs369082713 0.00010
NM_000203.5(IDUA):c.1402+8G>A rs1315308939 0.00010
NM_000254.3(MTR):c.3552C>T (p.Thr1184=) rs760793648 0.00010
NM_000254.3(MTR):c.866-10C>G rs368755647 0.00010
NM_000262.3(NAGA):c.618G>A (p.Ala206=) rs200770245 0.00010
NM_000271.5(NPC1):c.962C>T (p.Ala321Val) rs138079168 0.00010
NM_000282.4(PCCA):c.1193G>C (p.Cys398Ser) rs149293297 0.00010
NM_000293.3(PHKB):c.714G>A (p.Ser238=) rs772326970 0.00010
NM_000337.6(SGCD):c.-30G>A rs374043017 0.00010
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701 0.00010
NM_000355.4(TCN2):c.921A>C (p.Pro307=) rs138738105 0.00010
NM_000439.5(PCSK1):c.709+11G>A rs199951150 0.00010
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000447.3(PSEN2):c.300C>T (p.Ile100=) rs200801915 0.00010
NM_000465.4(BARD1):c.1568+15G>T rs145936354 0.00010
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466 0.00010
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser) rs151078515 0.00010
NM_000535.7(PMS2):c.2276-10A>G rs573900018 0.00010
NM_000540.3(RYR1):c.14670G>C (p.Val4890=) rs773080803 0.00010
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His) rs775471043 0.00010
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609 0.00010
NM_000787.4(DBH):c.1094T>C (p.Met365Thr) rs200103371 0.00010
NM_000821.7(GGCX):c.539+10del rs774014206 0.00010
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276 0.00010
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=) rs371934582 0.00010
NM_001035.3(RYR2):c.9067+10C>T rs372631657 0.00010
NM_001040436.3(YARS2):c.*142T>C rs190589666 0.00010
NM_001040716.2(PC):c.2224-14C>T rs780315450 0.00010
NM_001065.4(TNFRSF1A):c.249G>A (p.Glu83=) rs104895265 0.00010
NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala) rs373320785 0.00010
NM_001114753.3(ENG):c.850G>A (p.Glu284Lys) rs372045549 0.00010
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501 0.00010
NM_001164508.2(NEB):c.1182A>C (p.Thr394=) rs186233985 0.00010
NM_001164508.2(NEB):c.19751T>G (p.Met6584Arg) rs190605644 0.00010
NM_001164508.2(NEB):c.25564G>A (p.Val8522Ile) rs117861109 0.00010
NM_001164508.2(NEB):c.6369G>A (p.Thr2123=) rs540542570 0.00010
NM_001164508.2(NEB):c.7343G>A (p.Arg2448His) rs373589529 0.00010
NM_001199397.3(NEK1):c.642G>A (p.Lys214=) rs369725706 0.00010
NM_001330078.2(NRXN1):c.3090A>C (p.Gly1030=) rs201886024 0.00010
NM_001355436.2(SPTB):c.4973+4C>T rs758611621 0.00010
NM_001369.3(DNAH5):c.2400G>A (p.Glu800=) rs199951976 0.00010
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) rs149902566 0.00010
NM_001378615.1(CC2D2A):c.1947G>A (p.Thr649=) rs756341605 0.00010
NM_001386393.1(PANK2):c.1065C>G (p.Gly355=) rs564606657 0.00010
NM_001395413.1(POR):c.1191G>A (p.Ser397=) rs372401863 0.00010
NM_001395413.1(POR):c.1578G>A (p.Thr526=) rs371795413 0.00010
NM_001613.4(ACTA2):c.201G>C (p.Leu67=) rs199773697 0.00010
NM_001754.5(RUNX1):c.*4188G>C rs761390141 0.00010
NM_001875.5(CPS1):c.3796T>C (p.Phe1266Leu) rs373841124 0.00010
NM_001943.5(DSG2):c.1597G>A (p.Val533Ile) rs199761749 0.00010
NM_002454.3(MTRR):c.-26+14C>T rs368193742 0.00010
NM_002454.3(MTRR):c.1020C>T (p.Cys340=) rs201348649 0.00010
NM_002474.3(MYH11):c.4809G>A (p.Thr1603=) rs140577744 0.00010
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln) rs746211825 0.00010
NM_002529.4(NTRK1):c.711G>A (p.Thr237=) rs537430475 0.00010
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) rs200407907 0.00010
NM_002693.3(POLG):c.2724C>T (p.Ala908=) rs377390914 0.00010
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met) rs202125074 0.00010
NM_003227.4(TFR2):c.1076T>A (p.Ile359Asn) rs140020076 0.00010
NM_003331.5(TYK2):c.1806C>T (p.Asn602=) rs765576893 0.00010
NM_003384.3(VRK1):c.161-14A>G rs375176918 0.00010
NM_003560.4(PLA2G6):c.1725G>A (p.Thr575=) rs200599704 0.00010
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=) rs199599147 0.00010
NM_004239.4(TRIP11):c.1186+14G>A rs371492052 0.00010
NM_004287.5(GOSR2):c.246T>C (p.Thr82=) rs141380070 0.00010
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu) rs751361395 0.00010
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743 0.00010
NM_004525.3(LRP2):c.8112C>A (p.Ser2704=) rs148473513 0.00010
NM_004525.3(LRP2):c.9066C>T (p.Ser3022=) rs374380173 0.00010
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491 0.00010
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_005609.4(PYGM):c.606C>T (p.His202=) rs79860859 0.00010
NM_006118.4(HAX1):c.505-4G>A rs186219647 0.00010
NM_006892.4(DNMT3B):c.1804G>A (p.Val602Ile) rs752495145 0.00010
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=) rs147259971 0.00010
NM_014252.4(SLC25A15):c.278G>A (p.Arg93Gln) rs369201060 0.00010
NM_014339.7(IL17RA):c.625G>A (p.Val209Met) rs534512644 0.00010
NM_014339.7(IL17RA):c.676G>C (p.Glu226Gln) rs144085995 0.00010
NM_014384.3(ACAD8):c.567+12C>T rs375812492 0.00010
NM_014855.3(AP5Z1):c.1132+7C>T rs775865217 0.00010
NM_015166.4(MLC1):c.95C>T (p.Ala32Val) rs200382943 0.00010
NM_015627.3(LDLRAP1):c.423C>T (p.Leu141=) rs140170877 0.00010
NM_018344.6(SLC29A3):c.855G>A (p.Ser285=) rs566110994 0.00010
NM_020366.4(RPGRIP1):c.2334T>C (p.Asp778=) rs188318743 0.00010
NM_020919.4(ALS2):c.331G>A (p.Val111Ile) rs61745503 0.00010
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=) rs201589645 0.00010
NM_022124.6(CDH23):c.8824G>A (p.Asp2942Asn) rs371286324 0.00010
NM_022369.4(STRA6):c.1566G>T (p.Val522=) rs886051474 0.00010
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=) rs140229717 0.00010
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser) rs146812823 0.00010
NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala) rs376487875 0.00010
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=) rs199848479 0.00010
NM_032601.4(MCEE):c.164T>C (p.Val55Ala) rs374147386 0.00010
NM_052859.4(RFT1):c.827-14T>C rs571722733 0.00010
NM_053025.4(MYLK):c.1133G>A (p.Arg378His) rs56378658 0.00010
NM_053025.4(MYLK):c.2799G>A (p.Val933=) rs144806671 0.00010
NM_139343.3(BIN1):c.1047G>A (p.Pro349=) rs148945502 0.00010
NM_139343.3(BIN1):c.942C>T (p.His314=) rs370911793 0.00010
NM_152383.5(DIS3L2):c.108G>A (p.Lys36=) rs371477071 0.00010
NM_152383.5(DIS3L2):c.2124C>T (p.Asp708=) rs368518323 0.00010
NM_152564.5(VPS13B):c.3297A>C (p.Thr1099=) rs200982547 0.00010
NM_152783.5(D2HGDH):c.1306+15G>A rs759068118 0.00010
NM_198525.3(KIF7):c.3759C>G (p.Pro1253=) rs147767277 0.00010
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile) rs200790812 0.00010
NM_000017.4(ACADS):c.*4C>T rs774815274 0.00009
NM_000017.4(ACADS):c.1108A>G (p.Met370Val) rs566325901 0.00009
NM_000018.4(ACADVL):c.114G>C (p.Arg38=) rs777380964 0.00009
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=) rs779236098 0.00009
NM_000037.4(ANK1):c.1926C>T (p.Ala642=) rs534680895 0.00009
NM_000037.4(ANK1):c.4136C>T (p.Pro1379Leu) rs748160803 0.00009
NM_000037.4(ANK1):c.483G>A (p.Ala161=) rs200639644 0.00009
NM_000038.6(APC):c.6525A>G (p.Thr2175=) rs200151646 0.00009
NM_000049.4(ASPA):c.906G>A (p.Thr302=) rs371394875 0.00009
NM_000051.4(ATM):c.2778A>G (p.Lys926=) rs372569168 0.00009
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_000051.4(ATM):c.8851-3T>G rs748874219 0.00009
NM_000053.4(ATP7B):c.2994C>T (p.Gly998=) rs373102009 0.00009
NM_000057.4(BLM):c.2739C>T (p.Leu913=) rs759223856 0.00009
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069 0.00009
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr) rs148246325 0.00009
NM_000081.4(LYST):c.281C>T (p.Thr94Ile) rs777389303 0.00009
NM_000112.4(SLC26A2):c.1761C>T (p.Leu587=) rs745590895 0.00009
NM_000127.3(EXT1):c.1674A>G (p.Thr558=) rs202051061 0.00009
NM_000135.4(FANCA):c.189+12C>G rs753101174 0.00009
NM_000135.4(FANCA):c.3138C>T (p.His1046=) rs150884376 0.00009
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=) rs774576283 0.00009
NM_000138.5(FBN1):c.396T>C (p.Asp132=) rs147481356 0.00009
NM_000143.4(FH):c.*102T>C rs200093224 0.00009
NM_000182.5(HADHA):c.2147-8C>G rs368976628 0.00009
NM_000187.4(HGD):c.1206A>G (p.Ser402=) rs140500816 0.00009
NM_000199.5(SGSH):c.417G>A (p.Thr139=) rs142729872 0.00009
NM_000211.5(ITGB2):c.729C>T (p.Val243=) rs199735877 0.00009
NM_000215.4(JAK3):c.2097G>A (p.Ala699=) rs571402316 0.00009
NM_000215.4(JAK3):c.2391A>G (p.Ala797=) rs199910484 0.00009
NM_000215.4(JAK3):c.3183G>T (p.Pro1061=) rs369402343 0.00009
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg) rs63750876 0.00009
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val) rs121913644 0.00009
NM_000260.4(MYO7A):c.549G>A (p.Ser183=) rs188198404 0.00009
NM_000268.4(NF2):c.879T>C (p.Asn293=) rs151198477 0.00009
NM_000271.5(NPC1):c.2775C>T (p.Asn925=) rs147419225 0.00009
NM_000275.3(OCA2):c.1479T>G (p.Val493=) rs374434751 0.00009
NM_000275.3(OCA2):c.2245-6C>A rs368772032 0.00009
NM_000275.3(OCA2):c.2432+11A>G rs145577954 0.00009
NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys) rs144211929 0.00009
NM_000302.4(PLOD1):c.1203-3C>T rs376288573 0.00009
NM_000334.4(SCN4A):c.2220G>A (p.Pro740=) rs368278422 0.00009
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His) rs146848219 0.00009
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278 0.00009
NM_000341.4(SLC3A1):c.1717T>C (p.Leu573=) rs148703534 0.00009
NM_000341.4(SLC3A1):c.1889G>A (p.Gly630Asp) rs150557210 0.00009
NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met) rs202127235 0.00009
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) rs190540405 0.00009
NM_000359.3(TGM1):c.177C>T (p.Asp59=) rs8193031 0.00009
NM_000396.4(CTSK):c.22C>T (p.Leu8=) rs138360770 0.00009
NM_000396.4(CTSK):c.244-10_244-8del rs774922287 0.00009
NM_000426.4(LAMA2):c.2736G>A (p.Ala912=) rs142671449 0.00009
NM_000426.4(LAMA2):c.8223G>A (p.Thr2741=) rs150596964 0.00009
NM_000481.4(AMT):c.589G>C (p.Asp197His) rs200550585 0.00009
NM_000488.4(SERPINC1):c.299A>G (p.Asp100Gly) rs369524182 0.00009
NM_000506.5(F2):c.317-4G>A rs375713715 0.00009
NM_000515.5(GH1):c.387C>T (p.Tyr129=) rs370785603 0.00009
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) rs200936836 0.00009
NM_000527.5(LDLR):c.1586+15C>T rs371716068 0.00009
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=) rs3745649 0.00009
NM_000540.3(RYR1):c.4763C>T (p.Pro1588Leu) rs151029675 0.00009
NM_000540.3(RYR1):c.6549-9C>T rs370994573 0.00009
NM_000751.3(CHRND):c.480C>T (p.Phe160=) rs200986300 0.00009
NM_001005361.3(DNM2):c.633C>T (p.Asp211=) rs200191870 0.00009
NM_001005373.4(LRSAM1):c.1422+15T>A rs372509526 0.00009
NM_001005373.4(LRSAM1):c.1772C>T (p.Ala591Val) rs139344911 0.00009
NM_001025603.2(RFX5):c.1830C>G (p.Asp610Glu) rs141889707 0.00009
NM_001035.3(RYR2):c.3598+13T>C rs145104355 0.00009
NM_001035.3(RYR2):c.4044G>A (p.Lys1348=) rs755391572 0.00009
NM_001039958.2(MESP2):c.168T>G (p.Pro56=) rs894593728 0.00009
NM_001042492.3(NF1):c.4724+11A>G rs368649260 0.00009
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys) rs368654378 0.00009
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=) rs141077224 0.00009
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr) rs587780744 0.00009
NM_001080.3(ALDH5A1):c.727-13T>G rs187404409 0.00009
NM_001083116.3(PRF1):c.1153C>T (p.Arg385Trp) rs551046401 0.00009
NM_001083116.3(PRF1):c.1350G>A (p.Thr450=) rs200312496 0.00009
NM_001089.3(ABCA3):c.3207C>T (p.His1069=) rs151260964 0.00009
NM_001100.4(ACTA1):c.867C>T (p.Ile289=) rs140074813 0.00009
NM_001130438.3(SPTAN1):c.6654C>T (p.His2218=) rs372825476 0.00009
NM_001130823.3(DNMT1):c.483T>C (p.Thr161=) rs764496230 0.00009
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=) rs146687581 0.00009
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp) rs149386446 0.00009
NM_001130987.2(DYSF):c.2725G>A (p.Val909Ile) rs201622087 0.00009
NM_001130987.2(DYSF):c.337C>T (p.Pro113Ser) rs753922932 0.00009
NM_001130987.2(DYSF):c.3402+11C>G rs780844859 0.00009
NM_001130987.2(DYSF):c.395C>G (p.Pro132Arg) rs775881095 0.00009
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala) rs151268930 0.00009
NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg) rs201890095 0.00009
NM_001161352.2(KCNMA1):c.2283G>A (p.Pro761=) rs377596790 0.00009
NM_001161352.2(KCNMA1):c.483C>T (p.Ser161=) rs200741233 0.00009
NM_001161352.2(KCNMA1):c.884+15G>A rs200196183 0.00009
NM_001164508.2(NEB):c.12279G>A (p.Pro4093=) rs367638234 0.00009
NM_001164508.2(NEB):c.18870C>T (p.Asn6290=) rs200122580 0.00009
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu) rs375909006 0.00009
NM_001164508.2(NEB):c.9832-7A>T rs778183317 0.00009
NM_001166114.2(PNPLA6):c.648G>A (p.Pro216=) rs566213812 0.00009
NM_001199397.3(NEK1):c.2421C>T (p.Phe807=) rs56346829 0.00009
NM_001242957.3(MAK):c.405T>G (p.Gly135=) rs373994062 0.00009
NM_001256545.2(MEGF10):c.2157T>C (p.His719=) rs374544972 0.00009
NM_001256545.2(MEGF10):c.2289C>T (p.Asn763=) rs151316424 0.00009
NM_001256545.2(MEGF10):c.2442T>C (p.Thr814=) rs370850456 0.00009
NM_001256545.2(MEGF10):c.2943G>A (p.Pro981=) rs371253627 0.00009
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu) rs377412567 0.00009
NM_001277115.2(DNAH11):c.12534A>G (p.Pro4178=) rs752183095 0.00009
NM_001355436.2(SPTB):c.3425G>A (p.Arg1142Gln) rs141173028 0.00009
NM_001360.3(DHCR7):c.1155C>T (p.Ala385=) rs777517985 0.00009
NM_001360.3(DHCR7):c.735C>T (p.Ile245=) rs12800 0.00009
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=) rs144889528 0.00009
NM_001376.5(DYNC1H1):c.13515+8C>T rs200901713 0.00009
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=) rs147580834 0.00009
NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=) rs761916499 0.00009
NM_001377.3(DYNC2H1):c.2479A>G (p.Ile827Val) rs201224700 0.00009
NM_001377.3(DYNC2H1):c.8833-3T>C rs551227065 0.00009
NM_001395413.1(POR):c.1806+7C>T rs72557951 0.00009
NM_001395413.1(POR):c.357+14G>A rs372941705 0.00009
NM_001457.4(FLNB):c.7120C>T (p.Arg2374Cys) rs146963572 0.00009
NM_001558.4(IL10RA):c.1452G>A (p.Glu484=) rs139576148 0.00009
NM_001875.5(CPS1):c.1087-7C>T rs202117044 0.00009
NM_001875.5(CPS1):c.1154T>C (p.Ile385Thr) rs201955205 0.00009
NM_001943.5(DSG2):c.147C>T (p.Arg49=) rs531036279 0.00009
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val) rs145353444 0.00009
NM_002076.4(GNS):c.624+10A>G rs757526895 0.00009
NM_002103.5(GYS1):c.1305G>A (p.Thr435=) rs147610727 0.00009
NM_002187.3(IL12B):c.300G>A (p.Ser100=) rs142998256 0.00009
NM_002474.3(MYH11):c.3293+6G>A rs370658839 0.00009
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp) rs144421849 0.00009
NM_002474.3(MYH11):c.5277C>T (p.Val1759=) rs112564682 0.00009
NM_002618.4(PEX13):c.338T>C (p.Leu113Pro) rs202077756 0.00009
NM_002693.3(POLG):c.*44G>C rs563185483 0.00009
NM_003119.4(SPG7):c.1971C>T (p.Ile657=) rs140356355 0.00009
NM_003331.5(TYK2):c.1398C>T (p.Pro466=) rs200752112 0.00009
NM_003982.4(SLC7A7):c.1128A>C (p.Glu376Asp) rs139619724 0.00009
NM_004415.4(DSP):c.5523A>C (p.Ser1841=) rs730882116 0.00009
NM_004525.3(LRP2):c.10906C>T (p.Arg3636Trp) rs747833963 0.00009
NM_005142.3(CBLIF):c.1074-3T>C rs370833765 0.00009
NM_005373.3(MPL):c.1467C>T (p.Thr489=) rs759161511 0.00009
NM_005535.3(IL12RB1):c.309T>C (p.Ala103=) rs369830496 0.00009
NM_005535.3(IL12RB1):c.320T>C (p.Val107Ala) rs150285174 0.00009
NM_005566.4(LDHA):c.57C>T (p.Pro19=) rs11553870 0.00009
NM_005592.4(MUSK):c.312T>C (p.Gly104=) rs56181115 0.00009
NM_005609.4(PYGM):c.540C>T (p.Ala180=) rs148731983 0.00009
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp) rs558267822 0.00009
NM_005787.6(ALG3):c.777C>T (p.Ser259=) rs142901178 0.00009
NM_005902.4(SMAD3):c.885G>A (p.Arg295=) rs139616052 0.00009
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu) rs71526461 0.00009
NM_006031.6(PCNT):c.1155A>G (p.Ala385=) rs201944549 0.00009
NM_006206.6(PDGFRA):c.17C>T (p.Pro6Leu) rs754092062 0.00009
NM_006348.5(COG5):c.292+14A>G rs374007477 0.00009
NM_006493.4(CLN5):c.-4C>T rs587780896 0.00009
NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala) rs769397647 0.00009
NM_007272.3(CTRC):c.792+12C>A rs371799801 0.00009
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=) rs372017932 0.00009
NM_013247.5(HTRA2):c.1046-13C>T rs542851656 0.00009
NM_014000.3(VCL):c.3066C>T (p.Ile1022=) rs138619320 0.00009
NM_014140.4(SMARCAL1):c.812-15T>C rs375588610 0.00009
NM_014252.4(SLC25A15):c.147C>G (p.Asp49Glu) rs187685447 0.00009
NM_014384.3(ACAD8):c.110-9T>C rs371550147 0.00009
NM_014714.4(IFT140):c.4354G>A (p.Glu1452Lys) rs142106374 0.00009
NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr) rs775883752 0.00009
NM_014908.4(DOLK):c.192A>G (p.Leu64=) rs563156233 0.00009
NM_015702.3(MMADHC):c.-16A>G rs144111552 0.00009
NM_017636.4(TRPM4):c.2133-9C>G rs530013543 0.00009
NM_017866.6(TMEM70):c.555T>G (p.Asn185Lys) rs199655842 0.00009
NM_017882.3(CLN6):c.298-15C>T rs368661456 0.00009
NM_018006.5(TRMU):c.1188C>G (p.Gly396=) rs142346622 0.00009
NM_018714.3(COG1):c.1722C>T (p.Ser574=) rs149888309 0.00009
NM_018972.4(GDAP1):c.693A>T (p.Pro231=) rs181157785 0.00009
NM_019892.6(INPP5E):c.304G>T (p.Asp102Tyr) rs187724945 0.00009
NM_020376.4(PNPLA2):c.1181C>A (p.Pro394Gln) rs373114735 0.00009
NM_020533.3(MCOLN1):c.213C>T (p.Val71=) rs201157863 0.00009
NM_020686.6(ABAT):c.1158G>A (p.Pro386=) rs374865268 0.00009
NM_020686.6(ABAT):c.26G>A (p.Arg9His) rs531783337 0.00009
NM_021922.3(FANCE):c.52C>T (p.Pro18Ser) rs552241929 0.00009
NM_022098.4(XPNPEP3):c.388C>G (p.Pro130Ala) rs199693203 0.00009
NM_022098.4(XPNPEP3):c.792+13T>C rs376777685 0.00009
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520 0.00009
NM_022124.6(CDH23):c.7999G>C (p.Asp2667His) rs200251748 0.00009
NM_022356.4(P3H1):c.327C>T (p.Phe109=) rs370773974 0.00009
NM_024105.4(ALG12):c.243G>A (p.Ala81=) rs564172046 0.00009
NM_024675.4(PALB2):c.2379C>T (p.Gly793=) rs377626805 0.00009
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile) rs199878555 0.00009
NM_025000.4(DCAF17):c.192A>G (p.Gly64=) rs200189652 0.00009
NM_025099.6(CTC1):c.1958G>A (p.Arg653Gln) rs775779700 0.00009
NM_025137.4(SPG11):c.1457-4A>G rs773844127 0.00009
NM_025215.6(PUS1):c.207C>G (p.Leu69=) rs140067992 0.00009
NM_031433.4(MFRP):c.897G>A (p.Ser299=) rs150284394 0.00009
NM_031466.8(TRAPPC9):c.-24G>A rs370984854 0.00009
NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu) rs202080062 0.00009
NM_052845.4(MMAB):c.387G>A (p.Ala129=) rs549807022 0.00009
NM_052845.4(MMAB):c.561C>T (p.Ala187=) rs370773720 0.00009
NM_053025.4(MYLK):c.2589G>A (p.Glu863=) rs536506601 0.00009
NM_053025.4(MYLK):c.4725C>T (p.Tyr1575=) rs374665486 0.00009
NM_130849.4(SLC39A4):c.1149+9C>T rs139192292 0.00009
NM_130849.4(SLC39A4):c.804+9C>T rs200693339 0.00009
NM_133433.4(NIPBL):c.4374T>G (p.Thr1458=) rs749296628 0.00009
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met) rs140608845 0.00009
NM_138694.4(PKHD1):c.2444A>G (p.Gln815Arg) rs145789167 0.00009
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=) rs146531432 0.00009
NM_138694.4(PKHD1):c.6924C>T (p.Ala2308=) rs373795139 0.00009
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=) rs754654892 0.00009
NM_152296.5(ATP1A3):c.607-7C>A rs782819736 0.00009
NM_152383.5(DIS3L2):c.210+10A>G rs201117797 0.00009
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=) rs775663094 0.00009
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile) rs117934093 0.00009
NM_152564.5(VPS13B):c.9013A>G (p.Ile3005Val) rs142110082 0.00009
NM_152783.5(D2HGDH):c.567G>A (p.Pro189=) rs140447217 0.00009
NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?) rs45610936 0.00009
NM_172250.3(MMAA):c.440-6C>T rs374784209 0.00009
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu) rs78324544 0.00009
NM_199242.3(UNC13D):c.2553+12G>A rs560520169 0.00009
NM_000048.4(ASL):c.1342G>A (p.Val448Ile) rs139410488 0.00008
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg) rs80358730 0.00008
NM_000059.4(BRCA2):c.517-4C>G rs81002804 0.00008
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_000070.3(CAPN3):c.1045G>C (p.Glu349Gln) rs146403258 0.00008
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile) rs199672291 0.00008
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) rs2229224 0.00008
NM_000159.4(GCDH):c.1299G>A (p.Ala433=) rs150271870 0.00008
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly) rs199876321 0.00008
NM_000212.3(ITGB3):c.180C>T (p.Gly60=) rs373101628 0.00008
NM_000251.3(MSH2):c.1488A>G (p.Leu496=) rs267607960 0.00008
NM_000254.3(MTR):c.3126C>T (p.Asp1042=) rs529430607 0.00008
NM_000264.5(PTCH1):c.3955C>T (p.Arg1319Cys) rs375998275 0.00008
NM_000293.3(PHKB):c.932T>C (p.Val311Ala) rs149685822 0.00008
NM_000312.4(PROC):c.678+10G>A rs776905824 0.00008
NM_000350.3(ABCA4):c.673G>A (p.Val225Met) rs540124349 0.00008
NM_000384.3(APOB):c.4929G>A (p.Ala1643=) rs200623857 0.00008
NM_000417.3(IL2RA):c.584-11C>T rs750468923 0.00008
NM_000417.3(IL2RA):c.693G>A (p.Glu231=) rs139266750 0.00008
NM_000419.5(ITGA2B):c.671-15T>C rs200877591 0.00008
NM_000466.3(PEX1):c.3637-14T>C rs745612436 0.00008
NM_000527.5(LDLR):c.2358C>T (p.Ser786=) rs183255090 0.00008
NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=) rs142797984 0.00008
NM_000532.5(PCCB):c.561C>T (p.Ser187=) rs145057852 0.00008
NM_000540.3(RYR1):c.11412C>T (p.Leu3804=) rs376851030 0.00008
NM_000540.3(RYR1):c.2712G>A (p.Pro904=) rs139339574 0.00008
NM_000540.3(RYR1):c.8310+10A>G rs372730488 0.00008
NM_000540.3(RYR1):c.8715G>C (p.Leu2905=) rs368684717 0.00008
NM_000751.3(CHRND):c.411C>T (p.Gly137=) rs373578965 0.00008
NM_000787.4(DBH):c.1599G>A (p.Ala533=) rs377563744 0.00008
NM_000787.4(DBH):c.624C>T (p.Pro208=) rs75942058 0.00008
NM_001005242.3(PKP2):c.1379-2038T>C rs781397552 0.00008
NM_001018115.3(FANCD2):c.672C>T (p.His224=) rs371928644 0.00008
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His) rs371157286 0.00008
NM_001035.3(RYR2):c.684C>T (p.Leu228=) rs72549417 0.00008
NM_001035.3(RYR2):c.7158C>T (p.Asn2386=) rs376057173 0.00008
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp) rs372601642 0.00008
NM_001114753.3(ENG):c.1098C>T (p.Asp366=) rs201497772 0.00008
NM_001134363.3(RBM20):c.3549C>T (p.Ser1183=) rs575854668 0.00008
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=) rs187423999 0.00008
NM_001142800.2(EYS):c.1107C>T (p.Ser369=) rs755023434 0.00008
NM_001164508.2(NEB):c.3416C>T (p.Thr1139Met) rs181244403 0.00008
NM_001277115.2(DNAH11):c.11081A>T (p.Asn3694Ile) rs528354205 0.00008
NM_001277115.2(DNAH11):c.4012-8G>A rs374349753 0.00008
NM_001330078.2(NRXN1):c.3364+9C>T rs200767650 0.00008
NM_001355436.2(SPTB):c.3624G>A (p.Arg1208=) rs200385949 0.00008
NM_001355436.2(SPTB):c.3780C>T (p.Asn1260=) rs191583247 0.00008
NM_001365304.2(LOC112694756):c.*622-5C>T rs752764982 0.00008
NM_001365536.1(SCN9A):c.213G>A (p.Val71=) rs200240989 0.00008
NM_001375808.2(LPIN2):c.1395C>T (p.Asp465=) rs143562359 0.00008
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser) rs201575292 0.00008
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=) rs202004938 0.00008
NM_001376.5(DYNC1H1):c.9531G>A (p.Leu3177=) rs531438720 0.00008
NM_001395413.1(POR):c.1944T>G (p.Ala648=) rs370865328 0.00008
NM_001457.4(FLNB):c.6210C>T (p.Ile2070=) rs538937637 0.00008
NM_001457.4(FLNB):c.6666C>T (p.Gly2222=) rs144628013 0.00008
NM_001875.5(CPS1):c.528+9A>G rs369476447 0.00008
NM_001953.5(TYMP):c.1137G>A (p.Glu379=) rs764142194 0.00008
NM_001999.4(FBN2):c.7212C>T (p.Leu2404=) rs368506842 0.00008
NM_002292.4(LAMB2):c.2489-7C>T rs374958213 0.00008
NM_002529.4(NTRK1):c.509T>C (p.Val170Ala) rs201503610 0.00008
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr) rs749660716 0.00008
NM_003119.4(SPG7):c.2083C>G (p.Leu695Val) rs754203248 0.00008
NM_003331.5(TYK2):c.372T>C (p.Arg124=) rs371832787 0.00008
NM_003331.5(TYK2):c.489C>T (p.Asp163=) rs748475805 0.00008
NM_003331.5(TYK2):c.783C>G (p.Ala261=) rs371939297 0.00008
NM_003560.4(PLA2G6):c.895-11G>A rs371094406 0.00008
NM_003849.4(SUCLG1):c.590-6G>A rs200107730 0.00008
NM_003924.4(PHOX2B):c.729A>G (p.Ala243=) rs751829128 0.00008
NM_003982.4(SLC7A7):c.123C>T (p.Asn41=) rs367673752 0.00008
NM_004304.5(ALK):c.3362G>A (p.Gly1121Asp) rs55760835 0.00008
NM_005198.5(CHKB):c.708C>T (p.Val236=) rs141934594 0.00008
NM_005327.7(HADH):c.240G>A (p.Lys80=) rs748623569 0.00008
NM_005609.4(PYGM):c.1110G>A (p.Val370=) rs372719040 0.00008
NM_005908.4(MANBA):c.2311G>T (p.Val771Phe) rs201779762 0.00008
NM_006031.6(PCNT):c.406G>A (p.Gly136Ser) rs59183158 0.00008
NM_006348.5(COG5):c.768A>T (p.Leu256Phe) rs376958885 0.00008
NM_006949.4(STXBP2):c.333C>T (p.Pro111=) rs144233139 0.00008
NM_007375.4(TARDBP):c.36C>T (p.Asn12=) rs565091566 0.00008
NM_012203.2(GRHPR):c.543G>C (p.Leu181=) rs370395134 0.00008
NM_013247.5(HTRA2):c.1131A>G (p.Leu377=) rs758108369 0.00008
NM_014141.6(CNTNAP2):c.939+8T>A rs199994339 0.00008
NM_014339.7(IL17RA):c.2466G>A (p.Gly822=) rs373070776 0.00008
NM_014363.6(SACS):c.1912T>G (p.Cys638Gly) rs200333323 0.00008
NM_014384.3(ACAD8):c.841+9C>T rs777635296 0.00008
NM_014855.3(AP5Z1):c.1938+11C>T rs201888478 0.00008
NM_017534.6(MYH2):c.4149G>A (p.Thr1383=) rs376738763 0.00008
NM_017636.4(TRPM4):c.2020-4A>C rs369498574 0.00008
NM_017636.4(TRPM4):c.2085C>T (p.Leu695=) rs781191851 0.00008
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln) rs145754721 0.00008
NM_019844.4(SLCO1B3):c.459A>G (p.Thr153=) rs370334648 0.00008
NM_020975.6(RET):c.1879+13C>T rs375573788 0.00008
NM_020975.6(RET):c.2081G>A (p.Arg694Gln) rs141185224 0.00008
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=) rs373768157 0.00008
NM_025000.4(DCAF17):c.27G>A (p.Val9=) rs570110822 0.00008
NM_025099.6(CTC1):c.1946-6C>T rs369285521 0.00008
NM_025099.6(CTC1):c.195T>C (p.Tyr65=) rs764616648 0.00008
NM_031433.4(MFRP):c.705C>T (p.Phe235=) rs34190279 0.00008
NM_031433.4(MFRP):c.861C>T (p.Asp287=) rs140710522 0.00008
NM_032520.5(GNPTG):c.489C>T (p.Phe163=) rs370857842 0.00008
NM_033305.3(VPS13A):c.5786A>G (p.Asn1929Ser) rs748876393 0.00008
NM_052845.4(MMAB):c.584+15G>A rs750655720 0.00008
NM_052845.4(MMAB):c.644+7G>A rs147637814 0.00008
NM_052989.3(IFT122):c.2721G>A (p.Ala907=) rs371570973 0.00008
NM_053025.4(MYLK):c.1212C>A (p.Pro404=) rs765597431 0.00008
NM_053025.4(MYLK):c.3897C>T (p.Ala1299=) rs553472487 0.00008
NM_133433.4(NIPBL):c.6312A>G (p.Lys2104=) rs147865925 0.00008
NM_138694.4(PKHD1):c.4009G>A (p.Asp1337Asn) rs373255125 0.00008
NM_152383.5(DIS3L2):c.1205-12G>A rs779551518 0.00008
NM_152564.5(VPS13B):c.8244G>A (p.Ser2748=) rs182347753 0.00008
NM_153006.3(NAGS):c.722T>C (p.Val241Ala) rs201142696 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_198525.3(KIF7):c.3225G>A (p.Ser1075=) rs375802364 0.00008
NM_201384.3(PLEC):c.342+7C>T rs367808541 0.00008
NM_000017.4(ACADS):c.327C>T (p.Cys109=) rs144083614 0.00007
NM_000018.4(ACADVL):c.205-7T>C rs760625298 0.00007
NM_000018.4(ACADVL):c.205-8C>G rs774353448 0.00007
NM_000019.4(ACAT1):c.239-8T>A rs202030208 0.00007
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=) rs199723613 0.00007
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751 0.00007
NM_000053.4(ATP7B):c.1947-4C>T rs74904335 0.00007
NM_000071.3(CBS):c.888G>A (p.Thr296=) rs769593715 0.00007
NM_000080.4(CHRNE):c.1446G>A (p.Val482=) rs376713095 0.00007
NM_000098.3(CPT2):c.1202G>T (p.Ser401Ile) rs146670074 0.00007
NM_000098.3(CPT2):c.84C>T (p.Gly28=) rs772541454 0.00007
NM_000100.4(CSTB):c.45G>A (p.Glu15=) rs1057521317 0.00007
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val) rs755925068 0.00007
NM_000156.6(GAMT):c.396C>A (p.Ile132=) rs200500835 0.00007
NM_000178.4(GSS):c.1126G>A (p.Gly376Arg) rs146267300 0.00007
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=) rs755461071 0.00007
NM_000211.5(ITGB2):c.2283C>T (p.Val761=) rs192197684 0.00007
NM_000215.4(JAK3):c.2681-11G>T rs201970522 0.00007
NM_000246.4(CIITA):c.1731C>T (p.Tyr577=) rs142848848 0.00007
NM_000251.3(MSH2):c.1560A>G (p.Gly520=) rs63750820 0.00007
NM_000286.3(PEX12):c.41C>A (p.Ala14Asp) rs193253559 0.00007
NM_000295.5(SERPINA1):c.967C>T (p.Leu323=) rs150455534 0.00007
NM_000343.4(SLC5A1):c.1524C>T (p.Thr508=) rs201895474 0.00007
NM_000350.3(ABCA4):c.2517C>T (p.Ser839=) rs138246242 0.00007
NM_000360.4(TH):c.252G>A (p.Leu84=) rs758016812 0.00007
NM_000363.5(TNNI3):c.373-4C>G rs2288530 0.00007
NM_000368.5(TSC1):c.2209-9C>G rs118203660 0.00007
NM_000429.3(MAT1A):c.816C>T (p.Gly272=) rs751778923 0.00007
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00007
NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=) rs5293 0.00007
NM_000515.5(GH1):c.171+6C>T rs191202934 0.00007
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
NM_000540.3(RYR1):c.10260-12C>T rs779541890 0.00007
NM_000540.3(RYR1):c.11260-13C>T rs540088883 0.00007
NM_000540.3(RYR1):c.12888G>C (p.Arg4296=) rs571850239 0.00007
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=) rs143418190 0.00007
NM_000540.3(RYR1):c.7028-8G>A rs147390699 0.00007
NM_000553.6(WRN):c.1302G>A (p.Thr434=) rs374140086 0.00007
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp) rs202046937 0.00007
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg) rs369969903 0.00007
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=) rs371636461 0.00007
NM_001005242.3(PKP2):c.795G>T (p.Gly265=) rs375268778 0.00007
NM_001035.3(RYR2):c.10017C>T (p.His3339=) rs376439588 0.00007
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=) rs774625105 0.00007
NM_001040108.2(MLH3):c.3576C>T (p.Leu1192=) rs376981545 0.00007
NM_001042492.3(NF1):c.1392+6A>T rs200798969 0.00007
NM_001048174.2(MUTYH):c.1107G>T (p.Leu369=) rs201412035 0.00007
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=) rs142540289 0.00007
NM_001080467.3(MYO5B):c.2644C>T (p.Arg882Trp) rs777961930 0.00007
NM_001126108.2(SLC12A3):c.2857-7C>T rs745327566 0.00007
NM_001130987.2(DYSF):c.2937C>T (p.Pro979=) rs192717273 0.00007
NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys) rs200719174 0.00007
NM_001134363.3(RBM20):c.1053C>T (p.Asp351=) rs192232825 0.00007
NM_001134363.3(RBM20):c.2244T>G (p.Ser748=) rs727503388 0.00007
NM_001164508.2(NEB):c.11116A>G (p.Ile3706Val) rs199551865 0.00007
NM_001164508.2(NEB):c.16817A>G (p.Tyr5606Cys) rs372049328 0.00007
NM_001164508.2(NEB):c.5616G>A (p.Pro1872=) rs368371414 0.00007
NM_001166114.2(PNPLA6):c.3450G>A (p.Gly1150=) rs367675784 0.00007
NM_001182.5(ALDH7A1):c.200C>T (p.Thr67Met) rs543181020 0.00007
NM_001276345.2(TNNT2):c.52+7G>A rs374443596 0.00007
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp) rs45466197 0.00007
NM_001277115.2(DNAH11):c.1170G>A (p.Glu390=) rs776924184 0.00007
NM_001277115.2(DNAH11):c.8316+7G>A rs369837420 0.00007
NM_001277115.2(DNAH11):c.9103-15T>C rs551974653 0.00007
NM_001360.3(DHCR7):c.840C>T (p.Tyr280=) rs148468879 0.00007
NM_001365088.1(SLC12A6):c.21C>T (p.Thr7=) rs146902000 0.00007
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=) rs35092963 0.00007
NM_001482.3(GATM):c.1041C>T (p.Asp347=) rs139599307 0.00007
NM_001844.5(COL2A1):c.2949C>T (p.Val983=) rs201719788 0.00007
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln) rs376607450 0.00007
NM_001875.5(CPS1):c.167T>G (p.Met56Arg) rs778958318 0.00007
NM_002241.5(KCNJ10):c.405C>T (p.Tyr135=) rs765590257 0.00007
NM_002272.4(KRT4):c.364C>G (p.Leu122Val) rs758695571 0.00007
NM_002292.4(LAMB2):c.2295C>T (p.Cys765=) rs201289156 0.00007
NM_002292.4(LAMB2):c.795G>A (p.Glu265=) rs375953746 0.00007
NM_002435.3(MPI):c.849C>T (p.Cys283=) rs377419930 0.00007
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr) rs138863103 0.00007
NM_002529.4(NTRK1):c.585G>A (p.Thr195=) rs182531655 0.00007
NM_002529.4(NTRK1):c.658C>T (p.Arg220Trp) rs202030811 0.00007
NM_003119.4(SPG7):c.306C>T (p.Asn102=) rs147397994 0.00007
NM_003172.4(SURF1):c.321C>T (p.Ala107=) rs141425824 0.00007
NM_003465.3(CHIT1):c.549G>A (p.Ala183=) rs371464440 0.00007
NM_003560.4(PLA2G6):c.1614C>T (p.Arg538=) rs373930150 0.00007
NM_003640.5(ELP1):c.2769A>G (p.Thr923=) rs370330097 0.00007
NM_003849.4(SUCLG1):c.319-8T>C rs370790297 0.00007
NM_004035.7(ACOX1):c.667G>A (p.Val223Ile) rs143260706 0.00007
NM_004415.4(DSP):c.3102C>T (p.Ile1034=) rs569974617 0.00007
NM_004525.3(LRP2):c.1425C>T (p.Asp475=) rs186484839 0.00007
NM_004656.4(BAP1):c.1749G>A (p.Ser583=) rs147775249 0.00007
NM_005198.5(CHKB):c.219C>T (p.Pro73=) rs751273046 0.00007
NM_005535.3(IL12RB1):c.701-6T>C rs374699716 0.00007
NM_005546.4(ITK):c.139-6C>T rs780173849 0.00007
NM_006005.3(WFS1):c.2119G>A (p.Val707Ile) rs71524377 0.00007
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=) rs138527421 0.00007
NM_006397.3(RNASEH2A):c.402C>T (p.Asn134=) rs778120777 0.00007
NM_006493.4(CLN5):c.642A>T (p.Val214=) rs751496223 0.00007
NM_006892.4(DNMT3B):c.720C>T (p.Pro240=) rs200921151 0.00007
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126 0.00007
NM_012275.3(IL36RN):c.436A>G (p.Ile146Val) rs202059991 0.00007
NM_014000.3(VCL):c.2802C>T (p.Ala934=) rs372381809 0.00007
NM_014141.6(CNTNAP2):c.645C>T (p.Asn215=) rs776956365 0.00007
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=) rs188566209 0.00007
NM_014244.5(ADAMTS2):c.2970C>T (p.Thr990=) rs769689633 0.00007
NM_014297.5(ETHE1):c.535C>T (p.His179Tyr) rs370182416 0.00007
NM_014339.7(IL17RA):c.1475G>A (p.Arg492Lys) rs770597137 0.00007
NM_014363.6(SACS):c.10909A>G (p.Met3637Val) rs150309559 0.00007
NM_014363.6(SACS):c.5419G>A (p.Glu1807Lys) rs375805688 0.00007
NM_014714.4(IFT140):c.1010-10C>T rs376722338 0.00007
NM_014855.3(AP5Z1):c.1617G>C (p.Leu539=) rs569601905 0.00007
NM_015192.4(PLCB1):c.3189-14C>T rs777913912 0.00007
NM_016219.5(MAN1B1):c.1065+11T>C rs200147487 0.00007
NM_016239.4(MYO15A):c.4038+6_4038+7insTG rs759039332 0.00007
NM_017636.4(TRPM4):c.2779-5C>T rs374639233 0.00007
NM_017636.4(TRPM4):c.483C>T (p.Gly161=) rs147157308 0.00007
NM_018418.5(SPATA7):c.1216-4C>T rs755958987 0.00007
NM_020686.6(ABAT):c.864C>T (p.Ala288=) rs149855547 0.00007
NM_021625.5(TRPV4):c.2320C>T (p.Arg774Cys) rs145102919 0.00007
NM_022356.4(P3H1):c.1626G>A (p.Thr542=) rs577059613 0.00007
NM_022369.4(STRA6):c.366C>T (p.Asp122=) rs147428518 0.00007
NM_024675.4(PALB2):c.2100A>T (p.Ser700=) rs757145884 0.00007
NM_025000.4(DCAF17):c.1266+6G>A rs557741620 0.00007
NM_025000.4(DCAF17):c.1422+14G>A rs368707741 0.00007
NM_025137.4(SPG11):c.3038+14A>G rs774593393 0.00007
NM_025243.4(SLC19A3):c.481T>C (p.Leu161=) rs375099581 0.00007
NM_032520.5(GNPTG):c.394C>T (p.Arg132Trp) rs200741370 0.00007
NM_052872.4(IL17F):c.243C>G (p.Pro81=) rs769617558 0.00007
NM_053025.4(MYLK):c.1651+7T>C rs758327487 0.00007
NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg) rs201615936 0.00007
NM_054012.4(ASS1):c.174+10G>A rs371597908 0.00007
NM_080424.4(SP110):c.237T>G (p.Ser79=) rs202135641 0.00007
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=) rs142855690 0.00007
NM_138694.4(PKHD1):c.3629-15G>A rs375870003 0.00007
NM_144997.7(FLCN):c.552C>A (p.Asn184Lys) rs143525924 0.00007
NM_152383.5(DIS3L2):c.1908C>T (p.Ser636=) rs778830625 0.00007
NM_152383.5(DIS3L2):c.2067C>T (p.Tyr689=) rs186340144 0.00007
NM_174936.4(PCSK9):c.1206C>T (p.Ala402=) rs200091654 0.00007
NM_174936.4(PCSK9):c.799+8A>G rs748933873 0.00007
NM_198904.4(GABRG2):c.135C>T (p.Asp45=) rs375308385 0.00007
NM_199242.3(UNC13D):c.2241C>T (p.Ser747=) rs372453702 0.00007
NM_199242.3(UNC13D):c.273G>A (p.Val91=) rs149494974 0.00007
NM_000016.6(ACADM):c.582C>T (p.Asn194=) rs778535261 0.00006
NM_000017.4(ACADS):c.624+11C>T rs763811046 0.00006
NM_000022.4(ADA):c.375C>G (p.Thr125=) rs766539394 0.00006
NM_000022.4(ADA):c.927G>A (p.Gln309=) rs139871719 0.00006
NM_000027.4(AGA):c.623-13T>G rs778434616 0.00006
NM_000035.4(ALDOB):c.849C>T (p.Asn283=) rs202062631 0.00006
NM_000037.4(ANK1):c.4105-5T>G rs768183148 0.00006
NM_000038.6(APC):c.2110G>A (p.Val704Ile) rs367804502 0.00006
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn) rs148275069 0.00006
NM_000038.6(APC):c.7929A>G (p.Leu2643=) rs138796072 0.00006
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu) rs730881270 0.00006
NM_000048.4(ASL):c.401G>A (p.Gly134Asp) rs201352504 0.00006
NM_000051.4(ATM):c.3577-13T>C rs587780856 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000053.4(ATP7B):c.2190C>T (p.Asp730=) rs550565277 0.00006
NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=) rs377586515 0.00006
NM_000053.4(ATP7B):c.325C>T (p.Leu109=) rs751920801 0.00006
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=) rs546721020 0.00006
NM_000057.4(BLM):c.2475G>A (p.Pro825=) rs147587050 0.00006
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_000059.4(BRCA2):c.2025A>G (p.Thr675=) rs147381487 0.00006
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met) rs80358705 0.00006
NM_000071.3(CBS):c.1161C>T (p.Ser387=) rs149280976 0.00006
NM_000071.3(CBS):c.1425G>A (p.Pro475=) rs147885808 0.00006
NM_000071.3(CBS):c.786G>A (p.Thr262=) rs551782391 0.00006
NM_000080.4(CHRNE):c.1104C>T (p.Pro368=) rs767374241 0.00006
NM_000081.4(LYST):c.3030A>G (p.Gly1010=) rs751511204 0.00006
NM_000081.4(LYST):c.3834G>A (p.Leu1278=) rs148542548 0.00006
NM_000081.4(LYST):c.5635-4A>G rs754201076 0.00006
NM_000081.4(LYST):c.7911G>A (p.Thr2637=) rs140229368 0.00006
NM_000094.4(COL7A1):c.4560T>A (p.Pro1520=) rs142686837 0.00006
NM_000094.4(COL7A1):c.5368G>A (p.Ala1790Thr) rs780506505 0.00006
NM_000098.3(CPT2):c.1737C>T (p.Tyr579=) rs957344521 0.00006
NM_000103.4(CYP19A1):c.336C>T (p.Tyr112=) rs139905959 0.00006
NM_000130.5(F5):c.1106C>T (p.Ala369Val) rs200934105 0.00006
NM_000130.5(F5):c.3442T>C (p.Ser1148Pro) rs369276714 0.00006
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr) rs201212806 0.00006
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln) rs376523966 0.00006
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu) rs145886270 0.00006
NM_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063 0.00006
NM_000138.5(FBN1):c.5672-15C>G rs776163620 0.00006
NM_000138.5(FBN1):c.7516G>A (p.Gly2506Ser) rs756295016 0.00006
NM_000138.5(FBN1):c.8310C>T (p.His2770=) rs112189340 0.00006
NM_000141.5(FGFR2):c.201C>T (p.Ala67=) rs200386134 0.00006
NM_000143.4(FH):c.12A>G (p.Ala4=) rs201277370 0.00006
NM_000151.4(G6PC1):c.18T>C (p.Asn6=) rs144652516 0.00006
NM_000152.5(GAA):c.1195-15G>A rs373840229 0.00006
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858 0.00006
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) rs377126280 0.00006
NM_000152.5(GAA):c.2800-11C>G rs374571499 0.00006
NM_000153.4(GALC):c.120C>T (p.Gly40=) rs532800656 0.00006
NM_000153.4(GALC):c.18C>G (p.Leu6=) rs886038260 0.00006
NM_000154.2(GALK1):c.165+6G>A rs779996721 0.00006
NM_000155.4(GALT):c.1128A>T (p.Ala376=) rs781374930 0.00006
NM_000155.4(GALT):c.211C>T (p.Leu71Phe) rs143994870 0.00006
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr) rs141471799 0.00006
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys) rs760661724 0.00006
NM_000159.4(GCDH):c.885C>T (p.Tyr295=) rs139192015 0.00006
NM_000170.3(GLDC):c.2028C>T (p.Ile676=) rs372604935 0.00006
NM_000170.3(GLDC):c.78G>C (p.Ser26=) rs915226152 0.00006
NM_000179.3(MSH6):c.1050C>T (p.Ala350=) rs730881802 0.00006
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile) rs376799914 0.00006
NM_000186.4(CFH):c.2196G>A (p.Thr732=) rs144325643 0.00006
NM_000186.4(CFH):c.3310+12T>C rs757045842 0.00006
NM_000187.4(HGD):c.550-14G>C rs769000073 0.00006
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) rs376787615 0.00006
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908 0.00006
NM_000203.5(IDUA):c.1800G>A (p.Ser600=) rs763047621 0.00006
NM_000211.5(ITGB2):c.681C>T (p.Ser227=) rs369981986 0.00006
NM_000211.5(ITGB2):c.768G>A (p.Thr256=) rs201148219 0.00006
NM_000211.5(ITGB2):c.849C>T (p.Asp283=) rs35013643 0.00006
NM_000215.4(JAK3):c.1184G>A (p.Arg395His) rs143038064 0.00006
NM_000238.4(KCNH2):c.3153-13C>T rs372337645 0.00006
NM_000243.3(MEFV):c.2049G>A (p.Ser683=) rs104895092 0.00006
NM_000243.3(MEFV):c.549G>A (p.Pro183=) rs587781035 0.00006
NM_000246.4(CIITA):c.1006+12G>A rs368964652 0.00006
NM_000246.4(CIITA):c.1944A>T (p.Ala648=) rs778678693 0.00006
NM_000246.4(CIITA):c.384C>T (p.Ile128=) rs140106499 0.00006
NM_000251.3(MSH2):c.2400A>G (p.Leu800=) rs201298777 0.00006
NM_000257.4(MYH7):c.2028T>C (p.Asn676=) rs145564868 0.00006
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=) rs200715586 0.00006
NM_000270.4(PNP):c.645C>T (p.Asp215=) rs369193020 0.00006
NM_000271.5(NPC1):c.1479C>T (p.Ser493=) rs148078801 0.00006
NM_000271.5(NPC1):c.3012G>A (p.Ser1004=) rs182413311 0.00006
NM_000275.3(OCA2):c.2043C>G (p.Thr681=) rs368126732 0.00006
NM_000293.3(PHKB):c.2136G>A (p.Pro712=) rs200274360 0.00006
NM_000294.3(PHKG2):c.318G>T (p.Val106=) rs199743139 0.00006
NM_000295.5(SERPINA1):c.6G>A (p.Pro2=) rs200936638 0.00006
NM_000303.3(PMM2):c.640-12G>A rs375325546 0.00006
NM_000350.3(ABCA4):c.2743+12A>C rs559119402 0.00006
NM_000350.3(ABCA4):c.3523-9C>G rs374302531 0.00006
NM_000350.3(ABCA4):c.5197-4C>T rs758825834 0.00006
NM_000353.3(TAT):c.231C>A (p.Ser77=) rs562235592 0.00006
NM_000359.3(TGM1):c.1761C>T (p.Asp587=) rs751201972 0.00006
NM_000360.4(TH):c.1228C>A (p.Arg410=) rs575326605 0.00006
NM_000360.4(TH):c.263C>T (p.Pro88Leu) rs150260759 0.00006
NM_000363.5(TNNI3):c.139T>C (p.Leu47=) rs587780967 0.00006
NM_000368.5(TSC1):c.1047A>G (p.Pro349=) rs118203492 0.00006
NM_000417.3(IL2RA):c.584-6C>T rs201675947 0.00006
NM_000419.5(ITGA2B):c.2862G>A (p.Val954=) rs201119421 0.00006
NM_000426.4(LAMA2):c.4157A>T (p.Tyr1386Phe) rs560139751 0.00006
NM_000426.4(LAMA2):c.7344T>C (p.Asn2448=) rs199931560 0.00006
NM_000429.3(MAT1A):c.204T>C (p.Cys68=) rs200574801 0.00006
NM_000429.3(MAT1A):c.550-5G>A rs761943871 0.00006
NM_000439.5(PCSK1):c.1764G>A (p.Lys588=) rs538803955 0.00006
NM_000466.3(PEX1):c.1042A>G (p.Thr348Ala) rs371309198 0.00006
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp) rs374167385 0.00006
NM_000466.3(PEX1):c.2927-12T>A rs375062546 0.00006
NM_000481.4(AMT):c.91-9C>T rs761235679 0.00006
NM_000484.4(APP):c.1458+9C>T rs201937048 0.00006
NM_000487.6(ARSA):c.225-5C>T rs192013394 0.00006
NM_000487.6(ARSA):c.918G>A (p.Thr306=) rs370250328 0.00006
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=) rs375845215 0.00006
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=) rs761669740 0.00006
NM_000506.5(F2):c.1815T>C (p.His605=) rs368442575 0.00006
NM_000512.5(GALNS):c.1071G>A (p.Pro357=) rs374619390 0.00006
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg) rs371459975 0.00006
NM_000512.5(GALNS):c.1269C>T (p.Asn423=) rs148709901 0.00006
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln) rs140162658 0.00006
NM_000521.4(HEXB):c.1269A>G (p.Val423=) rs746407358 0.00006
NM_000527.5(LDLR):c.1988-5C>G rs375877599 0.00006
NM_000527.5(LDLR):c.233G>A (p.Arg78His) rs146675823 0.00006
NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=) rs762152042 0.00006
NM_000540.3(RYR1):c.10938-11C>T rs760754746 0.00006
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=) rs748743312 0.00006
NM_000540.3(RYR1):c.2356G>A (p.Val786Ile) rs369281291 0.00006
NM_000540.3(RYR1):c.2844C>T (p.Asn948=) rs761045773 0.00006
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys) rs777049924 0.00006
NM_000540.3(RYR1):c.4620+13C>T rs201971363 0.00006
NM_000540.3(RYR1):c.5385G>C (p.Pro1795=) rs772422894 0.00006
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys) rs746818096 0.00006
NM_000540.3(RYR1):c.7344T>C (p.Gly2448=) rs199813873 0.00006
NM_000540.3(RYR1):c.9555-10C>T rs774666035 0.00006
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=) rs201659696 0.00006
NM_000546.6(TP53):c.1015G>A (p.Glu339Lys) rs17882252 0.00006
NM_000642.3(AGL):c.609A>G (p.Lys203=) rs186709388 0.00006
NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln) rs749866545 0.00006
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser) rs145080072 0.00006
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met) rs199691576 0.00006
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala) rs201105914 0.00006
NM_001032386.2(SUOX):c.50+9G>A rs368327991 0.00006
NM_001035.3(RYR2):c.2772G>A (p.Leu924=) rs780664060 0.00006
NM_001035.3(RYR2):c.5614G>A (p.Asp1872Asn) rs761770946 0.00006
NM_001035.3(RYR2):c.848+8G>C rs373075790 0.00006
NM_001039958.2(MESP2):c.561G>A (p.Gly187=) rs767474985 0.00006
NM_001040108.2(MLH3):c.277C>G (p.Arg93Gly) rs28756978 0.00006
NM_001040716.2(PC):c.1589C>T (p.Pro530Leu) rs370248734 0.00006
NM_001048174.2(MUTYH):c.305-13C>G rs201207780 0.00006
NM_001048174.2(MUTYH):c.729C>T (p.Asp243=) rs730881838 0.00006
NM_001080.3(ALDH5A1):c.525C>T (p.Tyr175=) rs372455508 0.00006
NM_001081.4(CUBN):c.2120G>A (p.Arg707His) rs763524933 0.00006
NM_001082971.2(DDC):c.315+11G>A rs753275419 0.00006
NM_001082971.2(DDC):c.816A>C (p.Ala272=) rs767990522 0.00006
NM_001083116.3(PRF1):c.189A>C (p.Thr63=) rs759983785 0.00006
NM_001089.3(ABCA3):c.2415-4T>G rs201775187 0.00006
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) rs773739293 0.00006
NM_001103.4(ACTN2):c.2568G>A (p.Pro856=) rs149554430 0.00006
NM_001113525.2(ZNF276):c.*2634C>T rs34476949 0.00006
NM_001114134.2(EPB42):c.1075+7C>A rs761030391 0.00006
NM_001114753.3(ENG):c.1852+42C>T rs779974705 0.00006
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=) rs13306666 0.00006
NM_001127255.2(NLRP7):c.531C>T (p.His177=) rs746150420 0.00006
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val) rs146588926 0.00006
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn) rs182185801 0.00006
NM_001130987.2(DYSF):c.799G>A (p.Val267Met) rs750724439 0.00006
NM_001134363.3(RBM20):c.1161G>A (p.Ala387=) rs374299043 0.00006
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln) rs138926584 0.00006
NM_001134363.3(RBM20):c.2579A>G (p.Glu860Gly) rs758720475 0.00006
NM_001134407.3(GRIN2A):c.2909G>A (p.Arg970Gln) rs148669437 0.00006
NM_001160372.4(TRAPPC9):c.2245C>T (p.Leu749=) rs375545861 0.00006
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His) rs556930902 0.00006
NM_001164508.2(NEB):c.19535T>C (p.Ile6512Thr) rs751483486 0.00006
NM_001164508.2(NEB):c.20228G>A (p.Arg6743His) rs755370356 0.00006
NM_001164508.2(NEB):c.21215A>G (p.Tyr7072Cys) rs763554121 0.00006
NM_001164508.2(NEB):c.22037A>T (p.Asn7346Ile) rs140982447 0.00006
NM_001164508.2(NEB):c.22187A>G (p.Lys7396Arg) rs201548700 0.00006
NM_001164508.2(NEB):c.23048T>C (p.Ile7683Thr) rs374941096 0.00006
NM_001164508.2(NEB):c.23051G>A (p.Arg7684His) rs372699411 0.00006
NM_001164508.2(NEB):c.5301G>A (p.Pro1767=) rs150496369 0.00006
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly) rs149430473 0.00006
NM_001164508.2(NEB):c.7953C>T (p.Ser2651=) rs183764569 0.00006
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351 0.00006
NM_001182.5(ALDH7A1):c.1016A>G (p.His339Arg) rs199767457 0.00006
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=) rs142315181 0.00006
NM_001256545.2(MEGF10):c.417C>T (p.Cys139=) rs148349018 0.00006
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906 0.00006
NM_001276345.2(TNNT2):c.601-8C>T rs397516475 0.00006
NM_001277115.2(DNAH11):c.2328G>A (p.Thr776=) rs372387032 0.00006
NM_001330078.2(NRXN1):c.2253A>G (p.Ala751=) rs199648817 0.00006
NM_001330078.2(NRXN1):c.4004C>T (p.Thr1335Ile) rs200672080 0.00006
NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=) rs151195816 0.00006
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=) rs150263699 0.00006
NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=) rs201875421 0.00006
NM_001368894.2(PAX6):c.-368G>A rs886048206 0.00006
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser) rs148607670 0.00006
NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg) rs774806132 0.00006
NM_001377.3(DYNC2H1):c.2005A>G (p.Lys669Glu) rs189533535 0.00006
NM_001378964.1(CDON):c.2836T>C (p.Leu946=) rs144054280 0.00006
NM_001384474.1(LOXHD1):c.6252C>T (p.His2084=) rs753440039 0.00006
NM_001386140.1(MTTP):c.915G>A (p.Ser305=) rs199716549 0.00006
NM_001395413.1(POR):c.229-5C>T rs782035827 0.00006
NM_001395413.1(POR):c.420C>T (p.Tyr140=) rs368468521 0.00006
NM_001395413.1(POR):c.504C>T (p.Phe168=) rs372715546 0.00006
NM_001457.4(FLNB):c.1688T>C (p.Ile563Thr) rs145891515 0.00006
NM_001457.4(FLNB):c.3138C>T (p.His1046=) rs371901421 0.00006
NM_001457.4(FLNB):c.7164C>T (p.Ser2388=) rs757418085 0.00006
NM_001540.5(HSPB1):c.210G>A (p.Ala70=) rs749963653 0.00006
NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile) rs199878637 0.00006
NM_001875.5(CPS1):c.4173G>A (p.Thr1391=) rs201710257 0.00006
NM_001943.5(DSG2):c.15G>C (p.Pro5=) rs772663614 0.00006
NM_001999.4(FBN2):c.2508G>A (p.Thr836=) rs372872626 0.00006
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser) rs374507398 0.00006
NM_002103.5(GYS1):c.1332C>T (p.Cys444=) rs377125421 0.00006
NM_002225.5(IVD):c.784+13G>A rs369694967 0.00006
NM_002241.5(KCNJ10):c.1047C>T (p.Tyr349=) rs368537434 0.00006
NM_002292.4(LAMB2):c.915+6G>A rs2071677 0.00006
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) rs190546350 0.00006
NM_002506.3(NGF):c.552C>T (p.Pro184=) rs532714783 0.00006
NM_002529.4(NTRK1):c.1522C>A (p.Arg508=) rs200575096 0.00006
NM_002529.4(NTRK1):c.575-15G>A rs762788551 0.00006
NM_002529.4(NTRK1):c.850+11G>A rs372293237 0.00006
NM_002617.4(PEX10):c.555C>T (p.His185=) rs75377471 0.00006
NM_002633.3(PGM1):c.442T>G (p.Phe148Val) rs755467080 0.00006
NM_002693.3(POLG):c.1743C>T (p.Asp581=) rs140743000 0.00006
NM_002693.3(POLG):c.2601T>C (p.Pro867=) rs201749977 0.00006
NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser) rs749663645 0.00006
NM_002778.4(PSAP):c.227T>A (p.Met76Lys) rs377024801 0.00006
NM_002778.4(PSAP):c.249+6C>T rs774663731 0.00006
NM_002857.4(PEX19):c.347-7C>T rs753523567 0.00006
NM_003119.4(SPG7):c.1236G>A (p.Ala412=) rs201129878 0.00006
NM_003119.4(SPG7):c.1325-6C>T rs371986686 0.00006
NM_003331.5(TYK2):c.2176-9C>T rs370673325 0.00006
NM_003465.3(CHIT1):c.1295G>A (p.Arg432Gln) rs202003206 0.00006
NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser) rs374652916 0.00006
NM_003664.5(AP3B1):c.1749G>A (p.Pro583=) rs201238945 0.00006
NM_003690.5(PRKRA):c.796G>A (p.Ala266Thr) rs148050153 0.00006
NM_003721.4(RFXANK):c.338-13C>G rs749579925 0.00006
NM_003859.3(DPM1):c.286T>C (p.Leu96=) rs780244460 0.00006
NM_004100.5(EYA4):c.1338A>G (p.Leu446=) rs200309400 0.00006
NM_004320.6(ATP2A1):c.1935C>T (p.Asn645=) rs754620899 0.00006
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala) rs200745877 0.00006
NM_004525.3(LRP2):c.630C>T (p.Asp210=) rs368336310 0.00006
NM_004629.2(FANCG):c.1808C>T (p.Ser603Phe) rs17878854 0.00006
NM_005518.4(HMGCS2):c.1420+13T>C rs771878586 0.00006
NM_005566.4(LDHA):c.406G>A (p.Val136Ile) rs184074326 0.00006
NM_005591.4(MRE11):c.777G>A (p.Gln259=) rs774144789 0.00006
NM_005609.4(PYGM):c.1239+12G>A rs760471706 0.00006
NM_005609.4(PYGM):c.2199C>T (p.Tyr733=) rs140102591 0.00006
NM_005677.4(COLQ):c.912C>T (p.Tyr304=) rs886058099 0.00006
NM_005787.6(ALG3):c.297-6T>C rs371534425 0.00006
NM_006005.3(WFS1):c.1392C>T (p.Thr464=) rs565697340 0.00006
NM_006005.3(WFS1):c.1580C>T (p.Thr527Ile) rs372663248 0.00006
NM_006005.3(WFS1):c.1656C>T (p.Thr552=) rs141477172 0.00006
NM_006005.3(WFS1):c.2208C>T (p.Gly736=) rs141020933 0.00006
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser) rs760256649 0.00006
NM_006005.3(WFS1):c.504C>T (p.Ser168=) rs71537675 0.00006
NM_006206.6(PDGFRA):c.2742G>C (p.Arg914=) rs56384252 0.00006
NM_006206.6(PDGFRA):c.827C>T (p.Thr276Met) rs142492533 0.00006
NM_006348.5(COG5):c.2168+9G>A rs746107488 0.00006
NM_006892.4(DNMT3B):c.143-9C>G rs377138079 0.00006
NM_006892.4(DNMT3B):c.1996+7A>G rs556202476 0.00006
NM_006996.3(SLC19A2):c.795C>T (p.Pro265=) rs201489069 0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701 0.00006
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=) rs372002119 0.00006
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln) rs55930959 0.00006
NM_007375.4(TARDBP):c.669C>G (p.Pro223=) rs149517613 0.00006
NM_012179.4(FBXO7):c.1506T>C (p.Asn502=) rs765344006 0.00006
NM_012472.6(DNAAF11):c.974+14C>A rs780037666 0.00006
NM_013247.5(HTRA2):c.1056C>T (p.Ser352=) rs781540048 0.00006
NM_013339.4(ALG6):c.1314T>C (p.Ile438=) rs146939069 0.00006
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=) rs139949668 0.00006
NM_014141.6(CNTNAP2):c.1898-9T>C rs372830287 0.00006
NM_014249.4(NR2E3):c.119-8C>T rs373874970 0.00006
NM_014297.5(ETHE1):c.9G>A (p.Glu3=) rs773937760 0.00006
NM_014324.6(AMACR):c.247+9G>T rs1361255226 0.00006
NM_014363.6(SACS):c.12216T>A (p.Thr4072=) rs574182225 0.00006
NM_014363.6(SACS):c.2487C>T (p.Asp829=) rs151198216 0.00006
NM_014363.6(SACS):c.9903G>T (p.Leu3301=) rs563145604 0.00006
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val) rs200394007 0.00006
NM_014714.4(IFT140):c.3490A>G (p.Met1164Val) rs369425839 0.00006
NM_014714.4(IFT140):c.3580C>G (p.Gln1194Glu) rs555330165 0.00006
NM_014714.4(IFT140):c.4266C>T (p.Ala1422=) rs149359139 0.00006
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser) rs369671309 0.00006
NM_014855.3(AP5Z1):c.417G>A (p.Ala139=) rs201203264 0.00006
NM_014908.4(DOLK):c.210C>G (p.Val70=) rs750368652 0.00006
NM_015166.4(MLC1):c.715-5C>A rs751850836 0.00006
NM_015192.4(PLCB1):c.2112G>A (p.Leu704=) rs139095432 0.00006
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln) rs200276195 0.00006
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr) rs147318949 0.00006
NM_016219.5(MAN1B1):c.1765-9C>T rs977693376 0.00006
NM_016938.5(EFEMP2):c.363T>C (p.Cys121=) rs746343857 0.00006
NM_017534.6(MYH2):c.1227C>T (p.Val409=) rs563146441 0.00006
NM_017668.3(NDE1):c.948-3126G>A rs377410503 0.00006
NM_017668.3(NDE1):c.948-9103C>T rs202120792 0.00006
NM_017866.6(TMEM70):c.462C>A (p.Ile154=) rs143954787 0.00006
NM_017882.3(CLN6):c.597C>G (p.Ala199=) rs368546281 0.00006
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191 0.00006
NM_018249.6(CDK5RAP2):c.817G>A (p.Glu273Lys) rs772591394 0.00006
NM_019892.6(INPP5E):c.1104C>T (p.His368=) rs148592275 0.00006
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=) rs145543466 0.00006
NM_020297.4(ABCC9):c.882G>A (p.Gly294=) rs764574133 0.00006
NM_020451.3(SELENON):c.732G>A (p.Pro244=) rs200765195 0.00006
NM_020533.3(MCOLN1):c.1038G>A (p.Glu346=) rs535704197 0.00006
NM_021625.5(TRPV4):c.963C>A (p.Gly321=) rs148534854 0.00006
NM_021922.3(FANCE):c.552A>C (p.Pro184=) rs138182352 0.00006
NM_021957.4(GYS2):c.1880C>T (p.Ser627Leu) rs182582633 0.00006
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile) rs397517321 0.00006
NM_022124.6(CDH23):c.5037C>T (p.Ile1679=) rs757049933 0.00006
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373 0.00006
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850 0.00006
NM_024079.5(ALG8):c.984C>A (p.Val328=) rs757467776 0.00006
NM_024589.3(ROGDI):c.822+14G>A rs200558978 0.00006
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg) rs140585012 0.00006
NM_025099.6(CTC1):c.2472C>T (p.Pro824=) rs558802130 0.00006
NM_025137.4(SPG11):c.1008-4C>T rs369112409 0.00006
NM_025137.4(SPG11):c.2082C>T (p.Ser694=) rs375179506 0.00006
NM_025137.4(SPG11):c.3145+12C>T rs375672539 0.00006
NM_025137.4(SPG11):c.316G>A (p.Ala106Thr) rs201842512 0.00006
NM_025137.4(SPG11):c.7146C>T (p.Ser2382=) rs747227352 0.00006
NM_030777.4(SLC2A10):c.1605C>T (p.Ile535=) rs148470005 0.00006
NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg) rs75218052 0.00006
NM_030777.4(SLC2A10):c.961G>A (p.Val321Met) rs372596900 0.00006
NM_031433.4(MFRP):c.898+5G>A rs201089284 0.00006
NM_032043.3(BRIP1):c.1140+11G>A rs369153270 0.00006
NM_032382.5(COG8):c.996C>T (p.Thr332=) rs571595612 0.00006
NM_032409.3(PINK1):c.267C>T (p.Ala89=) rs770933972 0.00006
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121 0.00006
NM_052989.3(IFT122):c.1758C>G (p.His586Gln) rs141889207 0.00006
NM_053025.4(MYLK):c.1752A>G (p.Leu584=) rs775877814 0.00006
NM_053025.4(MYLK):c.2049G>A (p.Gln683=) rs757464897 0.00006
NM_080680.3(COL11A2):c.2271C>T (p.Gly757=) rs745568808 0.00006
NM_130849.4(SLC39A4):c.1323T>C (p.His441=) rs143819461 0.00006
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg) rs199546324 0.00006
NM_133642.5(LARGE1):c.99C>T (p.Ser33=) rs377353667 0.00006
NM_138413.4(HOGA1):c.828C>T (p.Asn276=) rs201683794 0.00006
NM_138694.4(PKHD1):c.3628+9C>A rs552339299 0.00006
NM_138694.4(PKHD1):c.3891G>A (p.Ala1297=) rs775529923 0.00006
NM_138694.4(PKHD1):c.4547C>T (p.Pro1516Leu) rs200278368 0.00006
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=) rs202010726 0.00006
NM_138694.4(PKHD1):c.7163G>A (p.Gly2388Asp) rs371830478 0.00006
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val) rs144106341 0.00006
NM_139343.3(BIN1):c.1359G>A (p.Pro453=) rs201397427 0.00006
NM_139343.3(BIN1):c.1479C>T (p.Val493=) rs773313892 0.00006
NM_144508.5(KNL1):c.1768G>T (p.Ala590Ser) rs201334214 0.00006
NM_144508.5(KNL1):c.3573A>G (p.Ile1191Met) rs200222327 0.00006
NM_152296.5(ATP1A3):c.2139C>G (p.Pro713=) rs141362710 0.00006
NM_152296.5(ATP1A3):c.55C>T (p.Arg19Cys) rs782229302 0.00006
NM_152564.5(VPS13B):c.11216-6T>C rs780721865 0.00006
NM_153603.4(COG7):c.1851C>T (p.Pro617=) rs748835759 0.00006
NM_172250.3(MMAA):c.1193T>C (p.Ile398Thr) rs777459994 0.00006
NM_174936.4(PCSK9):c.1227C>T (p.Ala409=) rs146924245 0.00006
NM_174936.4(PCSK9):c.658-9G>A rs757194881 0.00006
NM_175914.5(HNF4A):c.381G>A (p.Leu127=) rs193922473 0.00006
NM_178170.3(NEK8):c.1539T>C (p.Pro513=) rs368315047 0.00006
NM_182760.4(SUMF1):c.271-7A>G rs371283922 0.00006
NM_182914.3(SYNE2):c.303A>G (p.Leu101=) rs371277498 0.00006
NM_198525.3(KIF7):c.1296G>A (p.Leu432=) rs886051533 0.00006
NM_198525.3(KIF7):c.2322C>A (p.Leu774=) rs145339415 0.00006
NM_198525.3(KIF7):c.588G>T (p.Leu196=) rs191721354 0.00006
NM_198525.3(KIF7):c.924-14C>T rs573998309 0.00006
NM_198904.4(GABRG2):c.1254C>T (p.Asp418=) rs113085352 0.00006
NM_198904.4(GABRG2):c.41A>G (p.Tyr14Cys) rs61750979 0.00006
NM_206937.2(LIG4):c.1830C>T (p.Leu610=) rs768563098 0.00006
NM_206937.2(LIG4):c.500T>G (p.Ile167Arg) rs138021217 0.00006
NM_000037.4(ANK1):c.1197G>A (p.Ala399=) rs756075877 0.00005
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys) rs201185479 0.00005
NM_000048.4(ASL):c.75C>T (p.Asn25=) rs370260834 0.00005
NM_000051.4(ATM):c.2220A>G (p.Ala740=) rs56353517 0.00005
NM_000051.4(ATM):c.4724G>A (p.Arg1575His) rs550552791 0.00005
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136 0.00005
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=) rs199879914 0.00005
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=) rs147914333 0.00005
NM_000070.3(CAPN3):c.945+14C>T rs763112832 0.00005
NM_000096.4(CP):c.1131C>T (p.Ala377=) rs150733154 0.00005
NM_000098.3(CPT2):c.1335C>T (p.Cys445=) rs143075786 0.00005
NM_000112.4(SLC26A2):c.1194A>T (p.Val398=) rs886038240 0.00005
NM_000130.5(F5):c.1033C>T (p.Arg345Trp) rs746260106 0.00005
NM_000130.5(F5):c.1300G>A (p.Val434Met) rs574610215 0.00005
NM_000130.5(F5):c.165T>C (p.Asn55=) rs781434840 0.00005
NM_000130.5(F5):c.3801T>C (p.Leu1267=) rs559683767 0.00005
NM_000135.4(FANCA):c.2152-13T>C rs752105563 0.00005
NM_000135.4(FANCA):c.2778+10C>T rs371786839 0.00005
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe) rs35566151 0.00005
NM_000135.4(FANCA):c.953G>T (p.Arg318Met) rs72552377 0.00005
NM_000138.5(FBN1):c.4321G>A (p.Gly1441Arg) rs372118067 0.00005
NM_000138.5(FBN1):c.7820-4G>A rs750036723 0.00005
NM_000141.5(FGFR2):c.780C>T (p.Ala260=) rs778288494 0.00005
NM_000143.4(FH):c.63C>T (p.Ala21=) rs555404867 0.00005
NM_000147.5(FUCA1):c.936G>A (p.Leu312=) rs140932886 0.00005
NM_000152.5(GAA):c.510C>T (p.Asp170=) rs564758226 0.00005
NM_000153.4(GALC):c.195+15G>A rs748140458 0.00005
NM_000154.2(GALK1):c.1152C>T (p.Ala384=) rs373041566 0.00005
NM_000158.4(GBE1):c.1392C>T (p.Leu464=) rs563241317 0.00005
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser) rs730881793 0.00005
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=) rs63749834 0.00005
NM_000181.4(GUSB):c.211-8C>G rs2293340 0.00005
NM_000191.3(HMGCL):c.720A>G (p.Gln240=) rs911190800 0.00005
NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser) rs376207606 0.00005
NM_000203.5(IDUA):c.1728-9C>T rs374775605 0.00005
NM_000211.5(ITGB2):c.1320G>C (p.Gln440His) rs138703739 0.00005
NM_000211.5(ITGB2):c.897+14C>A rs374471192 0.00005
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=) rs201572666 0.00005
NM_000215.4(JAK3):c.2062A>T (p.Ile688Phe) rs35785705 0.00005
NM_000238.4(KCNH2):c.3436A>T (p.Thr1146Ser) rs778879572 0.00005
NM_000251.3(MSH2):c.843A>T (p.Ser281=) rs150197753 0.00005
NM_000254.3(MTR):c.2994C>T (p.Asn998=) rs778549407 0.00005
NM_000271.5(NPC1):c.1430C>T (p.Thr477Met) rs761459069 0.00005
NM_000282.4(PCCA):c.945G>A (p.Ala315=) rs373115130 0.00005
NM_000284.4(PDHA1):c.660C>T (p.Phe220=) rs745607005 0.00005
NM_000293.3(PHKB):c.1972-7G>A rs765332910 0.00005
NM_000317.3(PTS):c.132C>T (p.Asn44=) rs763556416 0.00005
NM_000341.4(SLC3A1):c.1137-3T>C rs555017366 0.00005
NM_000343.4(SLC5A1):c.549C>T (p.Leu183=) rs376255565 0.00005
NM_000343.4(SLC5A1):c.624G>A (p.Thr208=) rs144581584 0.00005
NM_000350.3(ABCA4):c.4848+13T>C rs374196141 0.00005
NM_000454.5(SOD1):c.420C>T (p.Asn140=) rs1804449 0.00005
NM_000455.5(STK11):c.920+6C>T rs730881964 0.00005
NM_000465.4(BARD1):c.1568T>C (p.Val523Ala) rs587780017 0.00005
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229 0.00005
NM_000466.3(PEX1):c.147G>A (p.Val49=) rs202230667 0.00005
NM_000484.4(APP):c.885C>T (p.Ala295=) rs199890425 0.00005
NM_000506.5(F2):c.978G>A (p.Pro326=) rs142949009 0.00005
NM_000521.4(HEXB):c.1035A>C (p.Pro345=) rs202227927 0.00005
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln) rs543222535 0.00005
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile) rs145135400 0.00005
NM_000540.3(RYR1):c.10359C>T (p.Arg3453=) rs376830015 0.00005
NM_000540.3(RYR1):c.14283G>A (p.Pro4761=) rs201157293 0.00005
NM_000540.3(RYR1):c.1956G>A (p.Ala652=) rs202105428 0.00005
NM_000540.3(RYR1):c.2835G>A (p.Ala945=) rs576990255 0.00005
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met) rs200289457 0.00005
NM_000540.3(RYR1):c.6651C>T (p.Gly2217=) rs371006370 0.00005
NM_000540.3(RYR1):c.9555-4C>T rs1417337927 0.00005
NM_000546.6(TP53):c.782+12C>T rs17881780 0.00005
NM_000553.6(WRN):c.2735T>G (p.Ile912Ser) rs11574323 0.00005
NM_000642.3(AGL):c.1065G>A (p.Thr355=) rs764914308 0.00005
NM_000787.4(DBH):c.1722+13G>T rs200197329 0.00005
NM_001005242.3(PKP2):c.1379-2000T>A rs769899368 0.00005
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met) rs201580443 0.00005
NM_001035.3(RYR2):c.5454T>C (p.Phe1818=) rs201218861 0.00005
NM_001040436.3(YARS2):c.477C>T (p.Phe159=) rs774325742 0.00005
NM_001040716.2(PC):c.1233C>T (p.Ser411=) rs747247743 0.00005
NM_001040716.2(PC):c.1368+11G>A rs371731636 0.00005
NM_001040716.2(PC):c.1514-6C>T rs745563711 0.00005
NM_001040716.2(PC):c.751+13G>A rs374607634 0.00005
NM_001042492.3(NF1):c.1166A>G (p.His389Arg) rs149739570 0.00005
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser) rs138227618 0.00005
NM_001065.4(TNFRSF1A):c.434A>G (p.Asn145Ser) rs104895288 0.00005
NM_001083116.3(PRF1):c.591C>T (p.Leu197=) rs767273601 0.00005
NM_001126108.2(SLC12A3):c.1314C>T (p.Tyr438=) rs776210036 0.00005
NM_001126108.2(SLC12A3):c.2082C>T (p.Asn694=) rs370145822 0.00005
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=) rs398123778 0.00005
NM_001130987.2(DYSF):c.405G>A (p.Pro135=) rs973059586 0.00005
NM_001130987.2(DYSF):c.4125C>T (p.Leu1375=) rs773240314 0.00005
NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser) rs372567331 0.00005
NM_001134363.3(RBM20):c.1899G>A (p.Pro633=) rs1446760969 0.00005
NM_001134407.3(GRIN2A):c.567C>A (p.Thr189=) rs758864728 0.00005
NM_001136472.2(LITAF):c.477G>A (p.Lys159=) rs371453151 0.00005
NM_001164508.2(NEB):c.11025G>A (p.Thr3675=) rs199789085 0.00005
NM_001164508.2(NEB):c.19315-4A>G rs778306769 0.00005
NM_001164508.2(NEB):c.21268C>G (p.Pro7090Ala) rs371704528 0.00005
NM_001164508.2(NEB):c.2739C>T (p.Ser913=) rs185674525 0.00005
NM_001164508.2(NEB):c.3716G>T (p.Ser1239Ile) rs201541240 0.00005
NM_001166114.2(PNPLA6):c.3375C>T (p.Gly1125=) rs375987938 0.00005
NM_001182.5(ALDH7A1):c.913+8T>C rs766528289 0.00005
NM_001256545.2(MEGF10):c.1080C>T (p.Tyr360=) rs751813170 0.00005
NM_001256545.2(MEGF10):c.3180A>G (p.Pro1060=) rs144450528 0.00005
NM_001277115.2(DNAH11):c.126G>A (p.Glu42=) rs748250611 0.00005
NM_001277115.2(DNAH11):c.4964A>G (p.Lys1655Arg) rs371049362 0.00005
NM_001277115.2(DNAH11):c.6607T>C (p.Leu2203=) rs202012891 0.00005
NM_001277115.2(DNAH11):c.7800T>C (p.Asp2600=) rs774129338 0.00005
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=) rs759178651 0.00005
NM_001358530.2(MOCS1):c.162G>A (p.Ala54=) rs200316862 0.00005
NM_001369369.1(FOXN1):c.159C>T (p.Ser53=) rs368024968 0.00005
NM_001370658.1(BTD):c.48C>T (p.Tyr16=) rs201823743 0.00005
NM_001372051.1(CASP8):c.1308C>T (p.Gly436=) rs777463099 0.00005
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=) rs200375220 0.00005
NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=) rs144921184 0.00005
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=) rs539688337 0.00005
NM_001395413.1(POR):c.888C>T (p.Thr296=) rs180683888 0.00005
NM_001395413.1(POR):c.990C>T (p.Leu330=) rs376830846 0.00005
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=) rs146064786 0.00005
NM_001918.5(DBT):c.291C>T (p.Ser97=) rs201318480 0.00005
NM_001943.5(DSG2):c.2780C>T (p.Pro927Leu) rs146402368 0.00005
NM_002292.4(LAMB2):c.3324C>T (p.Asn1108=) rs757491995 0.00005
NM_002292.4(LAMB2):c.386-15C>T rs117575041 0.00005
NM_002435.3(MPI):c.132G>A (p.Lys44=) rs778577329 0.00005
NM_002454.3(MTRR):c.346C>A (p.Gln116Lys) rs202110383 0.00005
NM_002474.3(MYH11):c.708C>T (p.Asn236=) rs768328532 0.00005
NM_002529.4(NTRK1):c.357C>T (p.Arg119=) rs149960336 0.00005
NM_002529.4(NTRK1):c.375C>T (p.Asn125=) rs757803799 0.00005
NM_002617.4(PEX10):c.711C>T (p.Tyr237=) rs761005209 0.00005
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln) rs202007590 0.00005
NM_002637.4(PHKA1):c.3570C>T (p.Asp1190=) rs1033726905 0.00005
NM_002693.3(POLG):c.1311C>T (p.Val437=) rs62640035 0.00005
NM_002863.5(PYGL):c.1884A>G (p.Ala628=) rs374560108 0.00005
NM_003172.4(SURF1):c.507C>T (p.Thr169=) rs782614599 0.00005
NM_003640.5(ELP1):c.2799G>A (p.Arg933=) rs367974002 0.00005
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=) rs376978572 0.00005
NM_003722.5(TP63):c.992+9C>T rs369838833 0.00005
NM_003859.3(DPM1):c.456A>G (p.Gly152=) rs370598866 0.00005
NM_003863.4(DPM2):c.197-5C>T rs886063482 0.00005
NM_003978.5(PSTPIP1):c.411C>A (p.Ala137=) rs368114895 0.00005
NM_004035.7(ACOX1):c.405T>C (p.Thr135=) rs142474717 0.00005
NM_004035.7(ACOX1):c.912C>T (p.Ser304=) rs144826451 0.00005
NM_004100.5(EYA4):c.1107+13A>C rs775989680 0.00005
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu) rs201826850 0.00005
NM_004415.4(DSP):c.8507G>A (p.Gly2836Glu) rs764232504 0.00005
NM_004525.3(LRP2):c.3495G>A (p.Ser1165=) rs186494101 0.00005
NM_005327.7(HADH):c.132+7G>T rs534966818 0.00005
NM_005546.4(ITK):c.496-4C>G rs749411240 0.00005
NM_005902.4(SMAD3):c.607+9T>A rs886051380 0.00005
NM_006623.4(PHGDH):c.372G>A (p.Ala124=) rs146740411 0.00005
NM_006790.3(MYOT):c.1458G>A (p.Leu486=) rs202139846 0.00005
NM_006892.4(DNMT3B):c.1297+10T>C rs146299831 0.00005
NM_006949.4(STXBP2):c.1506C>T (p.Pro502=) rs773575515 0.00005
NM_012144.4(DNAI1):c.1999A>G (p.Lys667Glu) rs560719255 0.00005
NM_014049.5(ACAD9):c.1650C>G (p.Ala550=) rs559422558 0.00005
NM_014141.6(CNTNAP2):c.2554+14G>T rs546437079 0.00005
NM_014336.5(AIPL1):c.616A>G (p.Ile206Val) rs772911646 0.00005
NM_014336.5(AIPL1):c.900G>C (p.Ala300=) rs373590751 0.00005
NM_014363.6(SACS):c.447G>A (p.Ala149=) rs145681117 0.00005
NM_014363.6(SACS):c.7614A>C (p.Ala2538=) rs142697365 0.00005
NM_014714.4(IFT140):c.2817G>A (p.Ser939=) rs373651150 0.00005
NM_014714.4(IFT140):c.3779G>A (p.Arg1260Gln) rs571556177 0.00005
NM_014855.3(AP5Z1):c.1356G>A (p.Ala452=) rs558636596 0.00005
NM_014855.3(AP5Z1):c.1974C>T (p.Tyr658=) rs375030531 0.00005
NM_014946.4(SPAST):c.30G>A (p.Lys10=) rs768928614 0.00005
NM_015627.3(LDLRAP1):c.201G>A (p.Ser67=) rs747011377 0.00005
NM_015627.3(LDLRAP1):c.75T>A (p.Gly25=) rs1057515462 0.00005
NM_015915.5(ATL1):c.1120-15C>T rs771568686 0.00005
NM_016123.4(IRAK4):c.742C>T (p.Leu248=) rs375755560 0.00005
NM_017636.4(TRPM4):c.1873+4C>T rs746766318 0.00005
NM_018714.3(COG1):c.20C>T (p.Ser7Leu) rs200144944 0.00005
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=) rs199528231 0.00005
NM_020247.5(COQ8A):c.1809C>T (p.Pro603=) rs774789966 0.00005
NM_020247.5(COQ8A):c.798G>A (p.Thr266=) rs750042754 0.00005
NM_020376.4(PNPLA2):c.591C>T (p.Asp197=) rs200897893 0.00005
NM_020533.3(MCOLN1):c.876C>T (p.His292=) rs199588225 0.00005
NM_021615.5(CHST6):c.918C>T (p.Ile306=) rs576445739 0.00005
NM_022124.6(CDH23):c.4857C>T (p.His1619=) rs369817589 0.00005
NM_022436.3(ABCG5):c.1180C>T (p.Leu394=) rs771802286 0.00005
NM_024685.4(BBS10):c.42G>A (p.Ala14=) rs373458861 0.00005
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys) rs201082396 0.00005
NM_032409.3(PINK1):c.1065A>G (p.Gln355=) rs370470902 0.00005
NM_032581.4(HYCC1):c.281A>G (p.Asn94Ser) rs201252505 0.00005
NM_033159.4(HYAL1):c.846G>A (p.Pro282=) rs782094366 0.00005
NM_052989.3(IFT122):c.228C>T (p.Ser76=) rs772835552 0.00005
NM_052989.3(IFT122):c.876C>T (p.Gly292=) rs768782991 0.00005
NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp) rs370966667 0.00005
NM_133642.5(LARGE1):c.1389C>T (p.Tyr463=) rs115686643 0.00005
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr) rs557211301 0.00005
NM_152383.5(DIS3L2):c.1125-6T>G rs764758535 0.00005
NM_152383.5(DIS3L2):c.1158C>T (p.Thr386=) rs539081624 0.00005
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=) rs145950999 0.00005
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser) rs534471615 0.00005
NM_152783.5(D2HGDH):c.1306+7G>A rs537773004 0.00005
NM_152783.5(D2HGDH):c.854-8C>T rs758727451 0.00005
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe) rs199749473 0.00005
NM_172250.3(MMAA):c.912G>A (p.Ala304=) rs371769807 0.00005
NM_182894.3(VSX2):c.504C>T (p.Asn168=) rs550984628 0.00005
NM_201384.3(PLEC):c.11438G>A (p.Arg3813His) rs782311906 0.00005
NM_000016.6(ACADM):c.287-10G>C rs368875210 0.00004
NM_000016.6(ACADM):c.57T>C (p.His19=) rs762984318 0.00004
NM_000017.4(ACADS):c.1104C>T (p.Gly368=) rs200165866 0.00004
NM_000022.4(ADA):c.21C>T (p.Phe7=) rs925528695 0.00004
NM_000022.4(ADA):c.642C>T (p.His214=) rs562055008 0.00004
NM_000026.4(ADSL):c.1011-9G>C rs780794164 0.00004
NM_000038.6(APC):c.5894A>C (p.His1965Pro) rs773776516 0.00004
NM_000038.6(APC):c.6019T>C (p.Tyr2007His) rs745811356 0.00004
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155 0.00004
NM_000045.4(ARG1):c.944T>C (p.Ile315Thr) rs202219126 0.00004
NM_000046.5(ARSB):c.510G>C (p.Leu170=) rs768312895 0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_000051.4(ATM):c.8391T>C (p.Ser2797=) rs566485657 0.00004
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys) rs1800558 0.00004
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=) rs778775834 0.00004
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu) rs750724856 0.00004
NM_000053.4(ATP7B):c.2763T>C (p.Ser921=) rs1052485948 0.00004
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=) rs200597654 0.00004
NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=) rs767721448 0.00004
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp) rs398122731 0.00004
NM_000059.4(BRCA2):c.267G>A (p.Pro89=) rs587780648 0.00004
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545 0.00004
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=) rs376257217 0.00004
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803 0.00004
NM_000070.3(CAPN3):c.1557C>T (p.His519=) rs368385372 0.00004
NM_000079.4(CHRNA1):c.111C>T (p.Ser37=) rs886055151 0.00004
NM_000080.4(CHRNE):c.1071G>A (p.Pro357=) rs772143528 0.00004
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=) rs201030784 0.00004
NM_000094.4(COL7A1):c.4704C>T (p.Thr1568=) rs573530168 0.00004
NM_000098.3(CPT2):c.1645+15G>T rs753344588 0.00004
NM_000127.3(EXT1):c.1743G>A (p.Val581=) rs375284779 0.00004
NM_000130.5(F5):c.586+11C>A rs199638362 0.00004
NM_000133.4(F9):c.582T>G (p.Thr194=) rs754155651 0.00004
NM_000135.4(FANCA):c.1777-15C>G rs371919426 0.00004
NM_000135.4(FANCA):c.189+7G>A rs369985388 0.00004
NM_000135.4(FANCA):c.793-9T>C rs757500718 0.00004
NM_000137.4(FAH):c.81+8G>A rs188046704 0.00004
NM_000138.5(FBN1):c.1602T>C (p.Cys534=) rs377386372 0.00004
NM_000138.5(FBN1):c.1884C>T (p.Cys628=) rs150421653 0.00004
NM_000138.5(FBN1):c.538+4A>G rs375721252 0.00004
NM_000138.5(FBN1):c.5724A>G (p.Thr1908=) rs141219664 0.00004
NM_000152.5(GAA):c.1245G>A (p.Thr415=) rs760920034 0.00004
NM_000152.5(GAA):c.2151C>T (p.His717=) rs758725073 0.00004
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823 0.00004
NM_000153.4(GALC):c.28T>C (p.Trp10Arg) rs767913083 0.00004
NM_000155.4(GALT):c.270T>C (p.Asp90=) rs1300102277 0.00004
NM_000159.4(GCDH):c.945C>T (p.Tyr315=) rs138133019 0.00004
NM_000170.3(GLDC):c.1483-15G>C rs371777070 0.00004
NM_000170.3(GLDC):c.150G>A (p.Ser50=) rs768354829 0.00004
NM_000170.3(GLDC):c.1626A>G (p.Glu542=) rs779537709 0.00004
NM_000179.3(MSH6):c.3801+5G>A rs201080919 0.00004
NM_000181.4(GUSB):c.324G>A (p.Pro108=) rs546131174 0.00004
NM_000183.3(HADHB):c.64+15A>T rs1018820638 0.00004
NM_000186.4(CFH):c.2596+8G>T rs375176505 0.00004
NM_000186.4(CFH):c.907C>T (p.Arg303Trp) rs142937931 0.00004
NM_000187.4(HGD):c.177-5T>C rs768308376 0.00004
NM_000199.5(SGSH):c.1134C>T (p.Ser378=) rs771257931 0.00004
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly) rs202191662 0.00004
NM_000203.5(IDUA):c.30G>A (p.Leu10=) rs549738466 0.00004
NM_000212.3(ITGB3):c.2331G>A (p.Thr777=) rs566831897 0.00004
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val) rs142742183 0.00004
NM_000214.3(JAG1):c.439+9C>T rs374350782 0.00004
NM_000215.4(JAK3):c.2254C>T (p.Leu752=) rs200123352 0.00004
NM_000215.4(JAK3):c.2350+7G>A rs200658439 0.00004
NM_000215.4(JAK3):c.2535C>T (p.Gly845=) rs200746503 0.00004
NM_000215.4(JAK3):c.2772C>T (p.Ser924=) rs199939250 0.00004
NM_000222.3(KIT):c.2802+9A>G rs369450271 0.00004
NM_000235.4(LIPA):c.967-13C>A rs762226885 0.00004
NM_000238.4(KCNH2):c.3164G>A (p.Arg1055Gln) rs41307270 0.00004
NM_000243.3(MEFV):c.1527C>T (p.Leu509=) rs571832030 0.00004
NM_000243.3(MEFV):c.775A>G (p.Ile259Val) rs104895144 0.00004
NM_000246.4(CIITA):c.3012C>T (p.Val1004=) rs751445508 0.00004
NM_000249.4(MLH1):c.1269G>A (p.Arg423=) rs373076967 0.00004
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00004
NM_000251.3(MSH2):c.1530G>C (p.Gln510His) rs587782355 0.00004
NM_000251.3(MSH2):c.2580G>A (p.Ser860=) rs752428475 0.00004
NM_000251.3(MSH2):c.336C>A (p.Ser112=) rs34312619 0.00004
NM_000254.3(MTR):c.1722T>C (p.Ser574=) rs142857114 0.00004
NM_000256.3(MYBPC3):c.1056C>G (p.Leu352=) rs375007425 0.00004
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=) rs886050418 0.00004
NM_000262.3(NAGA):c.582C>T (p.Gly194=) rs553977653 0.00004
NM_000264.5(PTCH1):c.1664A>G (p.Asn555Ser) rs181192122 0.00004
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met) rs187104739 0.00004
NM_000268.4(NF2):c.255T>C (p.Asp85=) rs375802248 0.00004
NM_000270.4(PNP):c.678C>T (p.Ile226=) rs563086985 0.00004
NM_000271.5(NPC1):c.1947+12G>T rs886053666 0.00004
NM_000271.5(NPC1):c.2514+15G>A rs765825660 0.00004
NM_000288.4(PEX7):c.804-5C>T rs369653173 0.00004
NM_000293.3(PHKB):c.30A>C (p.Glu10Asp) rs760502380 0.00004
NM_000295.5(SERPINA1):c.211A>C (p.Ser71Arg) rs11575873 0.00004
NM_000302.4(PLOD1):c.1584+10G>A rs756917169 0.00004
NM_000303.3(PMM2):c.639+10G>A rs200593954 0.00004
NM_000308.4(CTSA):c.1164+7G>A rs775198775 0.00004
NM_000310.4(PPT1):c.234+7C>T rs200777536 0.00004
NM_000312.4(PROC):c.1065C>T (p.Asn355=) rs548020208 0.00004
NM_000312.4(PROC):c.1272G>A (p.Glu424=) rs770534863 0.00004
NM_000335.5(SCN5A):c.103G>A (p.Gly35Ser) rs199473552 0.00004
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=) rs878911306 0.00004
NM_000335.5(SCN5A):c.4467G>A (p.Glu1489=) rs375026424 0.00004
NM_000340.2(SLC2A2):c.612+10C>A rs762632420 0.00004
NM_000341.4(SLC3A1):c.1125C>T (p.Pro375=) rs760943092 0.00004
NM_000343.4(SLC5A1):c.813G>A (p.Thr271=) rs200849778 0.00004
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met) rs74516571 0.00004
NM_000350.3(ABCA4):c.2487G>A (p.Thr829=) rs770089512 0.00004
NM_000350.3(ABCA4):c.4128+12G>A rs746262766 0.00004
NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=) rs202199507 0.00004
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=) rs191506332 0.00004
NM_000350.3(ABCA4):c.575C>T (p.Ala192Val) rs185729337 0.00004
NM_000360.4(TH):c.1470C>G (p.Ala490=) rs777477661 0.00004
NM_000363.5(TNNI3):c.372+7C>T rs367809676 0.00004
NM_000368.5(TSC1):c.2922C>T (p.Leu974=) rs769389702 0.00004
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=) rs200347945 0.00004
NM_000419.5(ITGA2B):c.1383C>T (p.Asn461=) rs367831764 0.00004
NM_000419.5(ITGA2B):c.858C>T (p.Val286=) rs376672078 0.00004
NM_000426.4(LAMA2):c.5469C>T (p.Ser1823=) rs753886576 0.00004
NM_000426.4(LAMA2):c.9212-11G>A rs770088527 0.00004
NM_000433.4(NCF2):c.636C>T (p.Asp212=) rs774027102 0.00004
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021 0.00004
NM_000455.5(STK11):c.374+11C>T rs368923696 0.00004
NM_000465.4(BARD1):c.1473G>A (p.Gly491=) rs151080730 0.00004
NM_000465.4(BARD1):c.2280G>A (p.Ser760=) rs749959440 0.00004
NM_000465.4(BARD1):c.783A>G (p.Leu261=) rs201862973 0.00004
NM_000481.4(AMT):c.195C>T (p.His65=) rs145243292 0.00004
NM_000484.4(APP):c.727G>A (p.Asp243Asn) rs750279232 0.00004
NM_000506.5(F2):c.285G>A (p.Thr95=) rs147892497 0.00004
NM_000518.5(HBB):c.85C>T (p.Leu29=) rs33958088 0.00004
NM_000527.5(LDLR):c.1078G>C (p.Asp360His) rs777926251 0.00004
NM_000527.5(LDLR):c.1988-13T>G rs200201131 0.00004
NM_000527.5(LDLR):c.2575G>A (p.Val859Met) rs202049029 0.00004
NM_000528.4(MAN2B1):c.1435G>T (p.Ala479Ser) rs767199154 0.00004
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=) rs369071579 0.00004
NM_000528.4(MAN2B1):c.2047-5C>T rs200424566 0.00004
NM_000528.4(MAN2B1):c.282C>T (p.His94=) rs766810849 0.00004
NM_000535.7(PMS2):c.*17G>C rs556089649 0.00004
NM_000540.3(RYR1):c.10458C>T (p.Ser3486=) rs770132934 0.00004
NM_000540.3(RYR1):c.13998+3G>A rs765404523 0.00004
NM_000540.3(RYR1):c.14538G>C (p.Ala4846=) rs763954439 0.00004
NM_000540.3(RYR1):c.3021C>T (p.Ser1007=) rs143891703 0.00004
NM_000540.3(RYR1):c.7689C>G (p.Thr2563=) rs781110591 0.00004
NM_000540.3(RYR1):c.9477C>T (p.Asp3159=) rs139409128 0.00004
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=) rs552841217 0.00004
NM_000553.6(WRN):c.3778G>A (p.Ala1260Thr) rs201107091 0.00004
NM_000751.3(CHRND):c.1253-10T>G rs199508773 0.00004
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr) rs556745324 0.00004
NM_001004127.3(ALG11):c.1269G>A (p.Lys423=) rs369694921 0.00004
NM_001005242.3(PKP2):c.1379-1997G>A rs781072699 0.00004
NM_001005242.3(PKP2):c.1452G>A (p.Thr484=) rs727504098 0.00004
NM_001005242.3(PKP2):c.1464C>T (p.Ile488=) rs145387575 0.00004
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984 0.00004
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu) rs144018320 0.00004
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=) rs147995773 0.00004
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) rs551045165 0.00004
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=) rs200968756 0.00004
NM_001008216.2(GALE):c.874-9G>A rs764448821 0.00004
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala) rs750159862 0.00004
NM_001025603.2(RFX5):c.117-13C>T rs371670135 0.00004
NM_001033044.4(GLUL):c.930C>T (p.Asn310=) rs369280031 0.00004
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=) rs774772480 0.00004
NM_001035.3(RYR2):c.10035G>A (p.Arg3345=) rs754976419 0.00004
NM_001035.3(RYR2):c.10495-14A>G rs727505057 0.00004
NM_001035.3(RYR2):c.11557+15G>A rs761490797 0.00004
NM_001035.3(RYR2):c.12858C>T (p.Ser4286=) rs185482345 0.00004
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr) rs397516550 0.00004
NM_001035.3(RYR2):c.9435T>C (p.Ser3145=) rs774657844 0.00004
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr) rs201669522 0.00004
NM_001040716.2(PC):c.2899-9G>A rs372755874 0.00004
NM_001042432.2(CLN3):c.*29A>G rs778438984 0.00004
NM_001042432.2(CLN3):c.516C>T (p.Leu172=) rs148846795 0.00004
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001080.3(ALDH5A1):c.924C>T (p.Gly308=) rs188108571 0.00004
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile) rs370770104 0.00004
NM_001082971.2(DDC):c.1044T>C (p.His348=) rs527805112 0.00004
NM_001082971.2(DDC):c.316-6C>T rs377474761 0.00004
NM_001082971.2(DDC):c.822C>T (p.Tyr274=) rs746729797 0.00004
NM_001101362.3(KBTBD13):c.1191G>C (p.Val397=) rs376673920 0.00004
NM_001114753.3(ENG):c.1389C>T (p.Ala463=) rs200168633 0.00004
NM_001114753.3(ENG):c.9C>T (p.Arg3=) rs752431673 0.00004
NM_001122659.3(EDNRB):c.99T>C (p.Pro33=) rs1050929 0.00004
NM_001122681.2(SH3BP2):c.1351-13C>T rs367963191 0.00004
NM_001122769.3(LCA5):c.1800A>G (p.Lys600=) rs147032284 0.00004
NM_001130987.2(DYSF):c.1287C>T (p.Ala429=) rs769254776 0.00004
NM_001130987.2(DYSF):c.1807-10C>T rs749361351 0.00004
NM_001130987.2(DYSF):c.2016C>T (p.Asn672=) rs199565036 0.00004
NM_001130987.2(DYSF):c.3228+7C>T rs534331009 0.00004
NM_001130987.2(DYSF):c.4059+7C>T rs562567295 0.00004
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys) rs752946123 0.00004
NM_001134363.3(RBM20):c.2200C>T (p.Arg734Trp) rs199972578 0.00004
NM_001134363.3(RBM20):c.2991G>A (p.Val997=) rs756276591 0.00004
NM_001134363.3(RBM20):c.305G>A (p.Arg102Gln) rs886046699 0.00004
NM_001134363.3(RBM20):c.3266C>G (p.Pro1089Arg) rs772708424 0.00004
NM_001134363.3(RBM20):c.99G>C (p.Pro33=) rs921066961 0.00004
NM_001134407.3(GRIN2A):c.1119A>G (p.Glu373=) rs368406915 0.00004
NM_001134407.3(GRIN2A):c.747C>T (p.Thr249=) rs774169125 0.00004
NM_001145809.2(MYH14):c.543C>T (p.Ala181=) rs746669662 0.00004
NM_001160372.4(TRAPPC9):c.2793C>T (p.His931=) rs886062722 0.00004
NM_001161352.2(KCNMA1):c.1227C>T (p.His409=) rs202161397 0.00004
NM_001161352.2(KCNMA1):c.1407C>T (p.Ser469=) rs370862113 0.00004
NM_001161352.2(KCNMA1):c.1563C>A (p.Ile521=) rs78544619 0.00004
NM_001161352.2(KCNMA1):c.771C>T (p.Pro257=) rs367642241 0.00004
NM_001164508.2(NEB):c.11851G>A (p.Val3951Met) rs759624618 0.00004
NM_001164508.2(NEB):c.17183A>T (p.Asp5728Val) rs756098317 0.00004
NM_001164508.2(NEB):c.17415C>T (p.Tyr5805=) rs555516831 0.00004
NM_001164508.2(NEB):c.1953G>A (p.Glu651=) rs367997645 0.00004
NM_001164508.2(NEB):c.19722A>G (p.Leu6574=) rs141526973 0.00004
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp) rs533233215 0.00004
NM_001164508.2(NEB):c.2250G>A (p.Thr750=) rs753965951 0.00004
NM_001164508.2(NEB):c.23382G>A (p.Ser7794=) rs770713773 0.00004
NM_001164508.2(NEB):c.23525G>A (p.Arg7842His) rs369514998 0.00004
NM_001164508.2(NEB):c.23789C>A (p.Thr7930Asn) rs760905651 0.00004
NM_001164508.2(NEB):c.3571G>A (p.Val1191Ile) rs767493706 0.00004
NM_001164508.2(NEB):c.4072T>C (p.Tyr1358His) rs377054979 0.00004
NM_001164508.2(NEB):c.4119C>G (p.Asn1373Lys) rs377653217 0.00004
NM_001164508.2(NEB):c.4271C>T (p.Thr1424Met) rs372694084 0.00004
NM_001164508.2(NEB):c.47A>T (p.Glu16Val) rs748679499 0.00004
NM_001164508.2(NEB):c.5849A>G (p.Lys1950Arg) rs758655350 0.00004
NM_001164508.2(NEB):c.6513T>C (p.Asp2171=) rs376535906 0.00004
NM_001164508.2(NEB):c.7758C>T (p.Asp2586=) rs559846137 0.00004
NM_001164508.2(NEB):c.8864A>G (p.Lys2955Arg) rs760903716 0.00004
NM_001166114.2(PNPLA6):c.864G>A (p.Pro288=) rs369082833 0.00004
NM_001182.5(ALDH7A1):c.1017T>C (p.His339=) rs200394848 0.00004
NM_001199397.3(NEK1):c.3135T>C (p.Ser1045=) rs370713361 0.00004
NM_001199397.3(NEK1):c.3622G>A (p.Asp1208Asn) rs35503975 0.00004
NM_001199397.3(NEK1):c.3715-6G>C rs771507979 0.00004
NM_001242957.3(MAK):c.1128C>T (p.Val376=) rs768120333 0.00004
NM_001242957.3(MAK):c.867A>G (p.Val289=) rs147570352 0.00004
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=) rs779556052 0.00004
NM_001244710.2(GFPT1):c.327C>T (p.Pro109=) rs537066687 0.00004
NM_001276345.2(TNNT2):c.720-5T>G rs730881092 0.00004
NM_001277115.2(DNAH11):c.2156A>G (p.Asn719Ser) rs551038953 0.00004
NM_001277115.2(DNAH11):c.2547A>G (p.Leu849=) rs535761458 0.00004
NM_001277115.2(DNAH11):c.6683+16_6683+18del rs750498878 0.00004
NM_001330078.2(NRXN1):c.1857A>G (p.Pro619=) rs1324701043 0.00004
NM_001330078.2(NRXN1):c.3384T>C (p.Phe1128=) rs751894635 0.00004
NM_001330078.2(NRXN1):c.4236C>T (p.Gly1412=) rs587781101 0.00004
NM_001330078.2(NRXN1):c.492C>T (p.Ala164=) rs201180707 0.00004
NM_001352514.2(HLCS):c.494-9A>G rs376397597 0.00004
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala) rs200950813 0.00004
NM_001352514.2(HLCS):c.918A>G (p.Gly306=) rs767988985 0.00004
NM_001358530.2(MOCS1):c.583+7G>A rs150131853 0.00004
NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met) rs567600444 0.00004
NM_001365088.1(SLC12A6):c.1008C>T (p.Gly336=) rs770742608 0.00004
NM_001369.3(DNAH5):c.4139G>A (p.Arg1380Gln) rs779980906 0.00004
NM_001369369.1(FOXN1):c.1706C>A (p.Ser569Tyr) rs149225004 0.00004
NM_001369369.1(FOXN1):c.987C>T (p.Phe329=) rs184956155 0.00004
NM_001370259.2(MEN1):c.941G>A (p.Arg314Gln) rs771645621 0.00004
NM_001374353.1(GLI2):c.413C>T (p.Thr138Met) rs148317983 0.00004
NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=) rs200903643 0.00004
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val) rs150118849 0.00004
NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=) rs536121075 0.00004
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His) rs912429154 0.00004
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=) rs375687099 0.00004
NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=) rs375547282 0.00004
NM_001377.3(DYNC2H1):c.11929A>C (p.Ile3977Leu) rs757571550 0.00004
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile) rs199626531 0.00004
NM_001378964.1(CDON):c.2567A>G (p.Asn856Ser) rs768131084 0.00004
NM_001386393.1(PANK2):c.18G>A (p.Gly6=) rs750766653 0.00004
NM_001395413.1(POR):c.1389+15T>A rs782664345 0.00004
NM_001395413.1(POR):c.1661-4G>A rs372733766 0.00004
NM_001395413.1(POR):c.938+10G>A rs781980999 0.00004
NM_001457.4(FLNB):c.1451G>C (p.Ser484Thr) rs199589693 0.00004
NM_001457.4(FLNB):c.1692C>T (p.Val564=) rs749242473 0.00004
NM_001457.4(FLNB):c.2575+12C>T rs750560502 0.00004
NM_001457.4(FLNB):c.3898+7C>T rs369277252 0.00004
NM_001457.4(FLNB):c.5327T>C (p.Ile1776Thr) rs1343990349 0.00004
NM_001457.4(FLNB):c.5917G>A (p.Glu1973Lys) rs368965386 0.00004
NM_001457.4(FLNB):c.6003C>T (p.Asp2001=) rs184065600 0.00004
NM_001457.4(FLNB):c.6531C>T (p.Thr2177=) rs778562859 0.00004
NM_001558.4(IL10RA):c.1539G>A (p.Thr513=) rs372503247 0.00004
NM_001558.4(IL10RA):c.67+15C>T rs886047708 0.00004
NM_001613.4(ACTA2):c.420G>A (p.Ala140=) rs762567614 0.00004
NM_001754.4(RUNX1):c.97+4T>G rs754042987 0.00004
NM_001754.5(RUNX1):c.59-12C>G rs202245096 0.00004
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=) rs367982631 0.00004
NM_001875.5(CPS1):c.712-11C>T rs561995236 0.00004
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe) rs141405267 0.00004
NM_001943.5(DSG2):c.390C>T (p.Tyr130=) rs369489095 0.00004
NM_001999.4(FBN2):c.1078+12A>C rs769211487 0.00004
NM_001999.4(FBN2):c.1968T>C (p.Cys656=) rs750685055 0.00004
NM_002103.5(GYS1):c.303G>A (p.Val101=) rs1391443496 0.00004
NM_002185.5(IL7R):c.379+8G>A rs111370546 0.00004
NM_002185.5(IL7R):c.800+10T>C rs202114203 0.00004
NM_002187.3(IL12B):c.960C>T (p.Ser320=) rs752964137 0.00004
NM_002234.4(KCNA5):c.1539C>T (p.Pro513=) rs145832242 0.00004
NM_002292.4(LAMB2):c.1391G>A (p.Arg464His) rs188487818 0.00004
NM_002292.4(LAMB2):c.2262G>A (p.Leu754=) rs756931255 0.00004
NM_002292.4(LAMB2):c.4369C>T (p.Arg1457Trp) rs151037751 0.00004
NM_002435.3(MPI):c.1053+15A>G rs564765063 0.00004
NM_002454.3(MTRR):c.27T>C (p.Ala9=) rs114748706 0.00004
NM_002474.3(MYH11):c.2860-14C>G rs371582357 0.00004
NM_002474.3(MYH11):c.5454G>A (p.Ala1818=) rs374486989 0.00004
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) rs121908974 0.00004
NM_002529.4(NTRK1):c.1252-6C>G rs776728101 0.00004
NM_002529.4(NTRK1):c.288-5C>T rs200860423 0.00004
NM_002863.5(PYGL):c.1519-15C>A rs372886463 0.00004
NM_002890.3(RASA1):c.2608T>C (p.Leu870=) rs372498033 0.00004
NM_003060.4(SLC22A5):c.1113C>T (p.Asp371=) rs200637508 0.00004
NM_003119.4(SPG7):c.1266C>T (p.Ser422=) rs767857665 0.00004
NM_003119.4(SPG7):c.184-4T>C rs533778042 0.00004
NM_003119.4(SPG7):c.656T>C (p.Ile219Thr) rs114255772 0.00004
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=) rs768508812 0.00004
NM_003289.4(TPM2):c.374+9G>C rs200730708 0.00004
NM_003331.5(TYK2):c.1254G>A (p.Ser418=) rs201945206 0.00004
NM_003331.5(TYK2):c.1839C>T (p.Ser613=) rs748006603 0.00004
NM_003331.5(TYK2):c.1968C>T (p.Tyr656=) rs764154157 0.00004
NM_003465.3(CHIT1):c.26-4C>A rs753899130 0.00004
NM_003680.4(YARS1):c.414C>T (p.Ser138=) rs762551221 0.00004
NM_003680.4(YARS1):c.685-11A>G rs751943571 0.00004
NM_003742.4(ABCB11):c.810G>A (p.Glu270=) rs369671177 0.00004
NM_003850.3(SUCLA2):c.1320T>C (p.Val440=) rs140383237 0.00004
NM_003859.3(DPM1):c.570C>T (p.Tyr190=) rs754109868 0.00004
NM_003907.3(EIF2B5):c.453G>A (p.Val151=) rs376258328 0.00004
NM_004076.5(CRYBB3):c.213C>T (p.Ser71=) rs201863246 0.00004
NM_004239.4(TRIP11):c.2829T>C (p.Phe943=) rs758437737 0.00004
NM_004239.4(TRIP11):c.438C>T (p.Phe146=) rs371786500 0.00004
NM_004273.5(CHST3):c.540C>T (p.Asn180=) rs748812857 0.00004
NM_004304.5(ALK):c.1044C>T (p.Ala348=) rs200293454 0.00004
NM_004304.5(ALK):c.32C>T (p.Pro11Leu) rs767822322 0.00004
NM_004304.5(ALK):c.930G>T (p.Glu310Asp) rs367712624 0.00004
NM_004320.6(ATP2A1):c.220-11C>T rs369161791 0.00004
NM_004320.6(ATP2A1):c.765G>A (p.Glu255=) rs200531611 0.00004
NM_004415.4(DSP):c.1469G>A (p.Arg490His) rs747815091 0.00004
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys) rs778350289 0.00004
NM_004415.4(DSP):c.264C>T (p.Ile88=) rs727502997 0.00004
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys) rs775594375 0.00004
NM_004453.4(ETFDH):c.488-12A>C rs180889150 0.00004
NM_004525.3(LRP2):c.770-12T>C rs138572086 0.00004
NM_004562.3(PRKN):c.1000C>T (p.Arg334Cys) rs199657839 0.00004
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu) rs777664260 0.00004
NM_005327.7(HADH):c.710-14C>T rs185267497 0.00004
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=) rs199526820 0.00004
NM_005535.3(IL12RB1):c.1179G>A (p.Pro393=) rs145095951 0.00004
NM_005591.4(MRE11):c.1783+7A>G rs774520952 0.00004
NM_005591.4(MRE11):c.940C>T (p.Leu314=) rs368362407 0.00004
NM_005609.4(PYGM):c.1266C>T (p.Asp422=) rs769602726 0.00004
NM_005751.5(AKAP9):c.6946-12A>G rs375657019 0.00004
NM_005996.4(TBX3):c.2004G>A (p.Ser668=) rs139599654 0.00004
NM_005996.4(TBX3):c.390-9G>A rs753151479 0.00004
NM_006005.3(WFS1):c.1507G>A (p.Val503Ile) rs573775230 0.00004
NM_006005.3(WFS1):c.168C>T (p.Asp56=) rs112598170 0.00004
NM_006005.3(WFS1):c.2664G>A (p.Ser888=) rs756116434 0.00004
NM_006005.3(WFS1):c.375C>T (p.Thr125=) rs762324196 0.00004
NM_006019.4(TCIRG1):c.1904C>T (p.Thr635Met) rs763119311 0.00004
NM_006129.5(BMP1):c.2166C>T (p.Phe722=) rs149426277 0.00004
NM_006371.5(CRTAP):c.111A>G (p.Pro37=) rs772038741 0.00004
NM_006757.4(TNNT3):c.417C>T (p.Asp139=) rs367932695 0.00004
NM_006892.4(DNMT3B):c.1490+9T>C rs370659978 0.00004
NM_006892.4(DNMT3B):c.1542C>T (p.Ala514=) rs140714949 0.00004
NM_006892.4(DNMT3B):c.408C>T (p.Ser136=) rs111877243 0.00004
NM_006949.4(STXBP2):c.1452+7G>T rs746604591 0.00004
NM_006949.4(STXBP2):c.1453-6C>T rs200538123 0.00004
NM_006949.4(STXBP2):c.1671C>T (p.Thr557=) rs750599225 0.00004
NM_007078.3(LDB3):c.689+3861C>T rs754704023 0.00004
NM_007078.3(LDB3):c.690-4617G>A rs754174632 0.00004
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705 0.00004
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886 0.00004
NM_007272.3(CTRC):c.81C>T (p.Ser27=) rs749455108 0.00004
NM_007375.4(TARDBP):c.57A>G (p.Pro19=) rs532319219 0.00004
NM_012073.5(CCT5):c.1075G>A (p.Val359Ile) rs147989324 0.00004
NM_012179.4(FBXO7):c.1535G>A (p.Gly512Asp) rs142471722 0.00004
NM_013339.4(ALG6):c.156G>A (p.Pro52=) rs751004049 0.00004
NM_013339.4(ALG6):c.167+7T>C rs374146302 0.00004
NM_014000.3(VCL):c.1177-14G>A rs778137720 0.00004
NM_014000.3(VCL):c.1607C>A (p.Pro536His) rs200624351 0.00004
NM_014000.3(VCL):c.2472C>G (p.Ile824Met) rs140381835 0.00004
NM_014000.3(VCL):c.2746-8C>T rs532645343 0.00004
NM_014000.3(VCL):c.45G>A (p.Pro15=) rs775062250 0.00004
NM_014140.4(SMARCAL1):c.1147+8G>A rs759562755 0.00004
NM_014140.4(SMARCAL1):c.1251G>A (p.Thr417=) rs372331472 0.00004
NM_014141.6(CNTNAP2):c.1623G>A (p.Pro541=) rs146873712 0.00004
NM_014244.5(ADAMTS2):c.1914C>T (p.Asp638=) rs752737484 0.00004
NM_014244.5(ADAMTS2):c.2145C>T (p.Cys715=) rs372661052 0.00004
NM_014244.5(ADAMTS2):c.2751-15G>A rs376602983 0.00004
NM_014244.5(ADAMTS2):c.762G>A (p.Arg254=) rs753246905 0.00004
NM_014249.4(NR2E3):c.444T>C (p.Ala148=) rs533192044 0.00004
NM_014252.4(SLC25A15):c.255C>T (p.Tyr85=) rs536354947 0.00004
NM_014339.7(IL17RA):c.1045+6C>T rs763664351 0.00004
NM_014339.7(IL17RA):c.1381C>T (p.Arg461Trp) rs554211497 0.00004
NM_014363.6(SACS):c.1224C>T (p.Asp408=) rs2274386 0.00004
NM_014363.6(SACS):c.151C>T (p.Leu51=) rs979224977 0.00004
NM_014363.6(SACS):c.1791A>T (p.Ser597=) rs371175405 0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) rs376680832 0.00004
NM_014363.6(SACS):c.6561C>T (p.Ile2187=) rs143477126 0.00004
NM_014714.4(IFT140):c.2424G>A (p.Ala808=) rs375979698 0.00004
NM_014714.4(IFT140):c.3252G>A (p.Ala1084=) rs375975334 0.00004
NM_014714.4(IFT140):c.4182+15C>T rs374874160 0.00004
NM_014714.4(IFT140):c.4350G>A (p.Leu1450=) rs750381445 0.00004
NM_014855.3(AP5Z1):c.540G>A (p.Leu180=) rs768017182 0.00004
NM_014855.3(AP5Z1):c.660A>G (p.Thr220=) rs756140557 0.00004
NM_014874.4(MFN2):c.1269G>A (p.Thr423=) rs145994616 0.00004
NM_014946.4(SPAST):c.441A>G (p.Glu147=) rs375027118 0.00004
NM_015166.4(MLC1):c.1032C>T (p.Asn344=) rs199707637 0.00004
NM_015192.4(PLCB1):c.1764-6G>C rs753832760 0.00004
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=) rs759935029 0.00004
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=) rs775726168 0.00004
NM_015702.3(MMADHC):c.696+13C>A rs199528296 0.00004
NM_016219.5(MAN1B1):c.1695G>A (p.Thr565=) rs372125925 0.00004
NM_016219.5(MAN1B1):c.426G>A (p.Ala142=) rs199738190 0.00004
NM_016219.5(MAN1B1):c.620+9C>T rs535697514 0.00004
NM_016277.5(RAB23):c.54A>G (p.Gly18=) rs767442221 0.00004
NM_018006.5(TRMU):c.1164G>A (p.Pro388=) rs202047181 0.00004
NM_018006.5(TRMU):c.1218C>T (p.Ser406=) rs754239335 0.00004
NM_018648.4(NOP10):c.51G>C (p.Leu17=) rs761222362 0.00004
NM_019892.6(INPP5E):c.1388-5C>T rs187956407 0.00004
NM_020297.4(ABCC9):c.3589C>T (p.Arg1197Cys) rs778849288 0.00004
NM_020320.5(RARS2):c.245G>A (p.Ser82Asn) rs749061654 0.00004
NM_020376.4(PNPLA2):c.747G>A (p.Leu249=) rs140959695 0.00004
NM_020376.4(PNPLA2):c.806C>T (p.Pro269Leu) rs201894536 0.00004
NM_020533.3(MCOLN1):c.1719G>A (p.Glu573=) rs201076545 0.00004
NM_020533.3(MCOLN1):c.984+13C>T rs376284815 0.00004
NM_020686.6(ABAT):c.555G>A (p.Gly185=) rs147765799 0.00004
NM_020919.4(ALS2):c.886G>A (p.Ala296Thr) rs765049503 0.00004
NM_020975.6(RET):c.693C>T (p.Arg231=) rs576806329 0.00004
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu) rs200199102 0.00004
NM_021957.4(GYS2):c.942-12G>A rs367916210 0.00004
NM_022041.4(GAN):c.444C>T (p.His148=) rs764605890 0.00004
NM_022041.4(GAN):c.75G>A (p.Glu25=) rs754548795 0.00004
NM_022124.6(CDH23):c.1584C>T (p.Arg528=) rs397517309 0.00004
NM_022124.6(CDH23):c.1665C>T (p.Asn555=) rs397517310 0.00004
NM_022124.6(CDH23):c.1719C>T (p.Asn573=) rs761913744 0.00004
NM_022124.6(CDH23):c.3915C>T (p.Asn1305=) rs568924674 0.00004
NM_022124.6(CDH23):c.6138C>T (p.Ile2046=) rs568741210 0.00004
NM_022124.6(CDH23):c.8931C>T (p.His2977=) rs781099726 0.00004
NM_022436.3(ABCG5):c.1411G>A (p.Val471Ile) rs143402711 0.00004
NM_022436.3(ABCG5):c.1569C>T (p.Ile523=) rs376969021 0.00004
NM_024422.6(DSC2):c.408A>G (p.Arg136=) rs561653481 0.00004
NM_024513.4(FYCO1):c.3831C>T (p.Asp1277=) rs755502918 0.00004
NM_024589.3(ROGDI):c.555G>C (p.Pro185=) rs771793763 0.00004
NM_024649.5(BBS1):c.432+13C>T rs759287238 0.00004
NM_025137.4(SPG11):c.36C>T (p.Ser12=) rs368656047 0.00004
NM_025237.3(SOST):c.147G>A (p.Glu49=) rs749432078 0.00004
NM_030787.4(CFHR5):c.608-6T>C rs373318468 0.00004
NM_031433.4(MFRP):c.271+10C>T rs554865241 0.00004
NM_031433.4(MFRP):c.321C>T (p.Ala107=) rs562580805 0.00004
NM_031885.5(BBS2):c.744T>C (p.His248=) rs186893286 0.00004
NM_032520.5(GNPTG):c.412-14C>T rs528538033 0.00004
NM_032581.4(HYCC1):c.1044C>T (p.Asp348=) rs768075744 0.00004
NM_032634.4(PIGO):c.468C>T (p.His156=) rs374876329 0.00004
NM_033343.4(LHX4):c.837C>T (p.Asp279=) rs150931176 0.00004
NM_052859.4(RFT1):c.1208+15A>G rs1448297165 0.00004
NM_052859.4(RFT1):c.1344C>T (p.Cys448=) rs369135875 0.00004
NM_052945.4(TNFRSF13C):c.307C>A (p.Arg103=) rs369626832 0.00004
NM_053025.4(MYLK):c.1213A>G (p.Met405Val) rs35436690 0.00004
NM_053025.4(MYLK):c.374-9T>C rs376695367 0.00004
NM_053025.4(MYLK):c.4302A>G (p.Glu1434=) rs145872838 0.00004
NM_053025.4(MYLK):c.969G>A (p.Glu323=) rs368095613 0.00004
NM_054012.4(ASS1):c.566+11C>T rs200527708 0.00004
NM_058246.4(DNAJB6):c.347-14A>T rs368036062 0.00004
NM_080680.3(COL11A2):c.3267G>A (p.Val1089=) rs781462105 0.00004
NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys) rs758507327 0.00004
NM_080911.3(UNG):c.81C>A (p.Ala27=) rs761928219 0.00004
NM_130849.4(SLC39A4):c.594C>T (p.Ala198=) rs782355343 0.00004
NM_133259.4(LRPPRC):c.114C>T (p.Ser38=) rs886056063 0.00004
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=) rs587783913 0.00004
NM_138694.4(PKHD1):c.150T>G (p.Leu50=) rs529214120 0.00004
NM_138694.4(PKHD1):c.2079G>T (p.Leu693=) rs746441159 0.00004
NM_138694.4(PKHD1):c.8173+12C>T rs368093611 0.00004
NM_144687.4(NLRP12):c.289+13C>T rs776591533 0.00004
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=) rs745337140 0.00004
NM_152564.5(VPS13B):c.9876T>G (p.Val3292=) rs143728471 0.00004
NM_152618.3(BBS12):c.1995T>C (p.Val665=) rs771980986 0.00004
NM_152618.3(BBS12):c.2100T>C (p.Asn700=) rs145847043 0.00004
NM_153006.3(NAGS):c.429G>A (p.Val143=) rs199976538 0.00004
NM_153603.4(COG7):c.1137+9G>A rs746762111 0.00004
NM_153603.4(COG7):c.963C>T (p.Thr321=) rs762510375 0.00004
NM_153717.3(EVC):c.717T>A (p.Ile239=) rs372312182 0.00004
NM_170707.4(LMNA):c.936+12C>T rs199881992 0.00004
NM_174936.4(PCSK9):c.627C>T (p.Pro209=) rs375892354 0.00004
NM_177438.3(DICER1):c.2951A>G (p.Asn984Ser) rs750932552 0.00004
NM_177438.3(DICER1):c.897G>A (p.Ser299=) rs201842071 0.00004
NM_178170.3(NEK8):c.1039G>A (p.Val347Ile) rs372172665 0.00004
NM_178170.3(NEK8):c.1251C>T (p.Ser417=) rs149239987 0.00004
NM_182760.4(SUMF1):c.726-14G>T rs370793169 0.00004
NM_182914.3(SYNE2):c.13917+10C>T rs760288753 0.00004
NM_183235.3(RAB27A):c.168T>C (p.Ser56=) rs376232909 0.00004
NM_198525.3(KIF7):c.1290C>T (p.Pro430=) rs886051534 0.00004
NM_198525.3(KIF7):c.3123G>A (p.Thr1041=) rs146808726 0.00004
NM_198525.3(KIF7):c.3486G>A (p.Gln1162=) rs185689321 0.00004
NM_198578.4(LRRK2):c.3969A>G (p.Gln1323=) rs372245035 0.00004
NM_199242.3(UNC13D):c.2002C>T (p.Arg668Cys) rs376137910 0.00004
NM_199242.3(UNC13D):c.2496G>A (p.Ala832=) rs763343306 0.00004
NM_199242.3(UNC13D):c.3067C>T (p.Arg1023Cys) rs140599939 0.00004
NM_203486.3(DLL3):c.984C>T (p.Val328=) rs138378695 0.00004
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197 0.00004
NM_206933.4(USH2A):c.3780T>C (p.His1260=) rs759937489 0.00004
NM_000018.4(ACADVL):c.343-14T>C rs200368309 0.00003
NM_000026.4(ADSL):c.763C>T (p.Leu255=) rs771049726 0.00003
NM_000038.6(APC):c.1312+12A>G rs372970635 0.00003
NM_000038.6(APC):c.757G>A (p.Gly253Ser) rs772806807 0.00003
NM_000051.4(ATM):c.275A>C (p.Lys92Thr) rs200151849 0.00003
NM_000051.4(ATM):c.3300G>A (p.Thr1100=) rs587780621 0.00003
NM_000051.4(ATM):c.6234C>T (p.Ser2078=) rs569483748 0.00003
NM_000051.4(ATM):c.6465G>A (p.Val2155=) rs140423883 0.00003
NM_000053.4(ATP7B):c.1543+14G>A rs770362811 0.00003
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=) rs570594838 0.00003
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721 0.00003
NM_000071.3(CBS):c.924C>T (p.Tyr308=) rs149809170 0.00003
NM_000079.4(CHRNA1):c.912C>T (p.Phe304=) rs373005571 0.00003
NM_000080.4(CHRNE):c.802+7A>C rs756213406 0.00003
NM_000081.4(LYST):c.10758C>T (p.Cys3586=) rs145136281 0.00003
NM_000081.4(LYST):c.4566A>C (p.Ala1522=) rs142344106 0.00003
NM_000081.4(LYST):c.4632C>T (p.Ser1544=) rs373930104 0.00003
NM_000090.4(COL3A1):c.3576C>T (p.Ala1192=) rs574331101 0.00003
NM_000094.4(COL7A1):c.4782+9A>T rs369635501 0.00003
NM_000096.4(CP):c.1575A>G (p.Val525=) rs760634973 0.00003
NM_000098.3(CPT2):c.852C>T (p.Pro284=) rs138575554 0.00003
NM_000100.4(CSTB):c.9C>T (p.Cys3=) rs555930471 0.00003
NM_000126.4(ETFA):c.720A>G (p.Gln240=) rs756864231 0.00003
NM_000130.5(F5):c.1034G>A (p.Arg345Gln) rs201078171 0.00003
NM_000130.5(F5):c.738A>G (p.Thr246=) rs375739973 0.00003
NM_000135.4(FANCA):c.1209G>A (p.Ala403=) rs773318145 0.00003
NM_000135.4(FANCA):c.2958C>T (p.Asn986=) rs368953287 0.00003
NM_000136.3(FANCC):c.438T>C (p.Tyr146=) rs765990832 0.00003
NM_000137.4(FAH):c.1029G>A (p.Gly343=) rs772334351 0.00003
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) rs199682686 0.00003
NM_000138.5(FBN1):c.7241G>A (p.Arg2414Gln) rs143863014 0.00003
NM_000138.5(FBN1):c.8202C>T (p.Asn2734=) rs113904256 0.00003
NM_000143.4(FH):c.305C>T (p.Ala102Val) rs61753295 0.00003
NM_000151.4(G6PC1):c.993G>A (p.Ala331=) rs369238258 0.00003
NM_000152.5(GAA):c.1075+12T>G rs370842677 0.00003
NM_000152.5(GAA):c.2154C>T (p.Val718=) rs1800311 0.00003
NM_000152.5(GAA):c.955+14C>A rs756921041 0.00003
NM_000159.4(GCDH):c.876C>T (p.Asn292=) rs1438245420 0.00003
NM_000162.5(GCK):c.198A>G (p.Pro66=) rs377410513 0.00003
NM_000170.3(GLDC):c.1453T>C (p.Leu485=) rs760562478 0.00003
NM_000179.3(MSH6):c.240A>G (p.Val80=) rs864622281 0.00003
NM_000187.4(HGD):c.765T>C (p.Ala255=) rs747764475 0.00003
NM_000207.3(INS):c.66C>T (p.Ala22=) rs375371953 0.00003
NM_000214.3(JAG1):c.48C>A (p.Leu16=) rs901489977 0.00003
NM_000215.4(JAK3):c.3213C>T (p.His1071=) rs757910571 0.00003
NM_000215.4(JAK3):c.3267C>T (p.Ser1089=) rs138593705 0.00003
NM_000217.3(KCNA1):c.1464G>A (p.Lys488=) rs147828649 0.00003
NM_000235.4(LIPA):c.111+13A>G rs375237841 0.00003
NM_000237.3(LPL):c.112G>A (p.Glu38Lys) rs557015233 0.00003
NM_000243.3(MEFV):c.1758T>C (p.Asn586=) rs202228332 0.00003
NM_000243.3(MEFV):c.1803T>A (p.Ile601=) rs779572391 0.00003
NM_000243.3(MEFV):c.2164G>A (p.Val722Met) rs104895201 0.00003
NM_000246.4(CIITA):c.2409G>A (p.Ala803=) rs755302593 0.00003
NM_000246.4(CIITA):c.2442C>T (p.His814=) rs746490057 0.00003
NM_000246.4(CIITA):c.3357C>T (p.His1119=) rs754706834 0.00003
NM_000246.4(CIITA):c.948G>A (p.Thr316=) rs369971838 0.00003
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu) rs56185292 0.00003
NM_000249.4(MLH1):c.1743G>A (p.Pro581=) rs567838745 0.00003
NM_000249.4(MLH1):c.539T>G (p.Val180Gly) rs63750102 0.00003
NM_000251.3(MSH2):c.2211-5T>G rs368596736 0.00003
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys) rs587779969 0.00003
NM_000255.4(MMUT):c.1614C>T (p.Thr538=) rs766999822 0.00003
NM_000256.3(MYBPC3):c.3191-7C>T rs373012629 0.00003
NM_000256.3(MYBPC3):c.927-10C>T rs201078659 0.00003
NM_000257.4(MYH7):c.1983C>T (p.Asn661=) rs146474860 0.00003
NM_000257.4(MYH7):c.540C>A (p.Ser180=) rs369490861 0.00003
NM_000264.5(PTCH1):c.2184G>A (p.Thr728=) rs201103723 0.00003
NM_000264.5(PTCH1):c.46G>A (p.Gly16Ser) rs1057515721 0.00003
NM_000271.5(NPC1):c.2130+10C>G rs776389852 0.00003
NM_000271.5(NPC1):c.2820G>A (p.Ser940=) rs754664476 0.00003
NM_000271.5(NPC1):c.2832C>T (p.Asp944=) rs780019300 0.00003
NM_000288.4(PEX7):c.576C>T (p.Ile192=) rs776411851 0.00003
NM_000288.4(PEX7):c.903+8A>G rs779919482 0.00003
NM_000293.3(PHKB):c.204C>T (p.Thr68=) rs759882590 0.00003
NM_000302.4(PLOD1):c.1818C>A (p.Ile606=) rs372579008 0.00003
NM_000302.4(PLOD1):c.303-10C>T rs750987724 0.00003
NM_000302.4(PLOD1):c.813C>T (p.Asp271=) rs373471550 0.00003
NM_000303.3(PMM2):c.597C>T (p.Asp199=) rs376412367 0.00003
NM_000306.4(POU1F1):c.456T>C (p.Asn152=) rs886058914 0.00003
NM_000308.4(CTSA):c.692+13G>A rs371053390 0.00003
NM_000334.4(SCN4A):c.354C>T (p.Ser118=) rs753453769 0.00003
NM_000335.5(SCN5A):c.21T>A (p.Pro7=) rs587781157 0.00003
NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser) rs200592320 0.00003
NM_000350.3(ABCA4):c.1937+15C>T rs774567553 0.00003
NM_000355.4(TCN2):c.882C>T (p.Pro294=) rs142689742 0.00003
NM_000359.3(TGM1):c.2337C>T (p.His779=) rs755635993 0.00003
NM_000360.4(TH):c.171C>T (p.Ala57=) rs771152796 0.00003
NM_000368.5(TSC1):c.2357G>A (p.Arg786Gln) rs1336228562 0.00003
NM_000368.5(TSC1):c.2968G>A (p.Glu990Lys) rs200398750 0.00003
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu) rs201867031 0.00003
NM_000410.4(HFE):c.-7T>C rs369807746 0.00003
NM_000426.4(LAMA2):c.5553C>T (p.Ser1851=) rs781341719 0.00003
NM_000426.4(LAMA2):c.6429+10T>G rs770063449 0.00003
NM_000426.4(LAMA2):c.7479C>T (p.Ser2493=) rs368989339 0.00003
NM_000433.4(NCF2):c.837G>A (p.Thr279=) rs942486247 0.00003
NM_000439.5(PCSK1):c.1503C>T (p.Ile501=) rs199524465 0.00003
NM_000441.2(SLC26A4):c.1068C>T (p.Ile356=) rs886061885 0.00003
NM_000441.2(SLC26A4):c.601-5C>T rs546450643 0.00003
NM_000455.5(STK11):c.374+9T>A rs762297795 0.00003
NM_000466.3(PEX1):c.3165A>G (p.Gln1055=) rs776231556 0.00003
NM_000484.4(APP):c.1458+10G>A rs201290605 0.00003
NM_000487.6(ARSA):c.225-4G>A rs372937480 0.00003
NM_000487.6(ARSA):c.369C>T (p.Ala123=) rs886057657 0.00003
NM_000488.4(SERPINC1):c.594T>C (p.Tyr198=) rs183416252 0.00003
NM_000527.5(LDLR):c.186G>A (p.Thr62=) rs55958434 0.00003
NM_000540.3(RYR1):c.10053G>A (p.Pro3351=) rs774096421 0.00003
NM_000540.3(RYR1):c.10619A>T (p.Tyr3540Phe) rs752477271 0.00003
NM_000540.3(RYR1):c.11193+15C>G rs370928637 0.00003
NM_000540.3(RYR1):c.12840G>T (p.Ala4280=) rs1292456827 0.00003
NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu) rs867851900 0.00003
NM_000540.3(RYR1):c.2937G>A (p.Ala979=) rs775442275 0.00003
NM_000540.3(RYR1):c.4339G>A (p.Val1447Met) rs370851779 0.00003
NM_000540.3(RYR1):c.537+13G>A rs754569485 0.00003
NM_000540.3(RYR1):c.6078G>A (p.Glu2026=) rs201310026 0.00003
NM_000540.3(RYR1):c.6318C>A (p.Ala2106=) rs769443054 0.00003
NM_000540.3(RYR1):c.7755C>T (p.Thr2585=) rs768702294 0.00003
NM_000553.6(WRN):c.1296C>T (p.Asn432=) rs772082980 0.00003
NM_000642.3(AGL):c.3345A>T (p.Gly1115=) rs758265909 0.00003
NM_000687.4(AHCY):c.29-4G>A rs774846394 0.00003
NM_000687.4(AHCY):c.445+11C>T rs375253690 0.00003
NM_000709.4(BCKDHA):c.108+12G>A rs780834493 0.00003
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=) rs201366184 0.00003
NM_000891.3(KCNJ2):c.1259C>T (p.Pro420Leu) rs749707062 0.00003
NM_001002755.4(NFU1):c.702G>A (p.Glu234=) rs561482249 0.00003
NM_001005361.3(DNM2):c.1423-9C>G rs371006369 0.00003
NM_001005361.3(DNM2):c.162-9C>A rs200736669 0.00003
NM_001008216.2(GALE):c.988+7G>A rs200182186 0.00003
NM_001032386.2(SUOX):c.1137A>G (p.Lys379=) rs759992645 0.00003
NM_001035.3(RYR2):c.11877G>A (p.Ser3959=) rs754610647 0.00003
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=) rs763374929 0.00003
NM_001035.3(RYR2):c.1241G>A (p.Arg414His) rs371121679 0.00003
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg) rs753733164 0.00003
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=) rs548313130 0.00003
NM_001035.3(RYR2):c.1789A>G (p.Ile597Val) rs770408945 0.00003
NM_001035.3(RYR2):c.837G>A (p.Thr279=) rs769682840 0.00003
NM_001035.3(RYR2):c.8515-7A>G rs766622060 0.00003
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=) rs755520825 0.00003
NM_001035.3(RYR2):c.9755A>G (p.His3252Arg) rs760379293 0.00003
NM_001040108.2(MLH3):c.3405C>T (p.Ser1135=) rs746155226 0.00003
NM_001040716.2(PC):c.1530C>T (p.Asn510=) rs755162836 0.00003
NM_001040716.2(PC):c.3435G>T (p.Met1145Ile) rs201796252 0.00003
NM_001040716.2(PC):c.3483T>C (p.His1161=) rs190223302 0.00003
NM_001042492.3(NF1):c.1308G>A (p.Ser436=) rs765425127 0.00003
NM_001042492.3(NF1):c.864G>C (p.Val288=) rs201181517 0.00003
NM_001065.4(TNFRSF1A):c.492C>T (p.Thr164=) rs373422284 0.00003
NM_001080.3(ALDH5A1):c.1374C>T (p.Ile458=) rs775722631 0.00003
NM_001080.3(ALDH5A1):c.651C>T (p.Ala217=) rs4646837 0.00003
NM_001080.3(ALDH5A1):c.663C>T (p.Ala221=) rs760461822 0.00003
NM_001082971.2(DDC):c.6C>T (p.Asn2=) rs749246611 0.00003
NM_001083962.2(TCF4):c.1113G>A (p.Ser371=) rs148308964 0.00003
NM_001083962.2(TCF4):c.903C>T (p.Asn301=) rs781392344 0.00003
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=) rs371410845 0.00003
NM_001101362.3(KBTBD13):c.228C>G (p.Asp76Glu) rs777431652 0.00003
NM_001101426.4(CRPPA):c.1120-10T>C rs200836986 0.00003
NM_001114753.3(ENG):c.405C>G (p.Thr135=) rs773521685 0.00003
NM_001114753.3(ENG):c.900G>A (p.Leu300=) rs140155568 0.00003
NM_001122659.3(EDNRB):c.777C>T (p.Pro259=) rs375637651 0.00003
NM_001126108.2(SLC12A3):c.2253G>A (p.Pro751=) rs776382586 0.00003
NM_001130823.3(DNMT1):c.3117-4G>A rs781402268 0.00003
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=) rs754177085 0.00003
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile) rs148925399 0.00003
NM_001130987.2(DYSF):c.558A>G (p.Thr186=) rs781732915 0.00003
NM_001130987.2(DYSF):c.5643-12A>G rs375507062 0.00003
NM_001130987.2(DYSF):c.760-8G>C rs748159785 0.00003
NM_001134363.3(RBM20):c.1429+10G>T rs778742738 0.00003
NM_001134363.3(RBM20):c.541G>A (p.Gly181Arg) rs543478618 0.00003
NM_001160372.4(TRAPPC9):c.3288G>A (p.Pro1096=) rs570688248 0.00003
NM_001161352.2(KCNMA1):c.2675C>T (p.Thr892Met) rs200440843 0.00003
NM_001161352.2(KCNMA1):c.3650A>G (p.Asn1217Ser) rs563967757 0.00003
NM_001164508.2(NEB):c.11361G>A (p.Pro3787=) rs200043736 0.00003
NM_001164508.2(NEB):c.11915T>G (p.Leu3972Arg) rs769145449 0.00003
NM_001164508.2(NEB):c.1365+14C>A rs750849844 0.00003
NM_001164508.2(NEB):c.18737A>G (p.His6246Arg) rs760552939 0.00003
NM_001164508.2(NEB):c.18786C>T (p.Tyr6262=) rs374874999 0.00003
NM_001164508.2(NEB):c.20367+15G>C rs886054931 0.00003
NM_001164508.2(NEB):c.20578-8A>G rs368526624 0.00003
NM_001164508.2(NEB):c.21779A>G (p.Lys7260Arg) rs200250294 0.00003
NM_001164508.2(NEB):c.22110A>G (p.Pro7370=) rs539800267 0.00003
NM_001164508.2(NEB):c.23149G>C (p.Glu7717Gln) rs766321668 0.00003
NM_001164508.2(NEB):c.24640A>G (p.Arg8214Gly) rs772803200 0.00003
NM_001164508.2(NEB):c.475C>T (p.His159Tyr) rs776746330 0.00003
NM_001164508.2(NEB):c.5854A>G (p.Met1952Val) rs200649387 0.00003
NM_001164508.2(NEB):c.6135T>C (p.Asp2045=) rs886042654 0.00003
NM_001164508.2(NEB):c.6449C>T (p.Ala2150Val) rs375256600 0.00003
NM_001164508.2(NEB):c.7623C>T (p.Ala2541=) rs371570995 0.00003
NM_001164508.2(NEB):c.9743A>G (p.Asn3248Ser) rs139548702 0.00003
NM_001164688.2(RD3):c.150G>A (p.Ala50=) rs751609154 0.00003
NM_001166114.2(PNPLA6):c.1962C>T (p.Ser654=) rs757870828 0.00003
NM_001166114.2(PNPLA6):c.2185-15C>T rs780822241 0.00003
NM_001166114.2(PNPLA6):c.3397+11G>T rs370597983 0.00003
NM_001166114.2(PNPLA6):c.3990C>T (p.Pro1330=) rs535388759 0.00003
NM_001174089.2(SLC4A11):c.1668G>A (p.Ala556=) rs368073003 0.00003
NM_001182.5(ALDH7A1):c.394-15G>A rs766287925 0.00003
NM_001199397.3(NEK1):c.1500T>C (p.Ala500=) rs776664093 0.00003
NM_001199397.3(NEK1):c.2136C>T (p.Gly712=) rs760404694 0.00003
NM_001256545.2(MEGF10):c.781-15T>C rs767842462 0.00003
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=) rs147495853 0.00003
NM_001355436.2(SPTB):c.5810C>G (p.Ser1937Cys) rs764560431 0.00003
NM_001358530.2(MOCS1):c.1362C>T (p.Asp454=) rs771259156 0.00003
NM_001360.3(DHCR7):c.1389C>T (p.Thr463=) rs200477386 0.00003
NM_001365536.1(SCN9A):c.829C>A (p.Arg277=) rs121908916 0.00003
NM_001369369.1(FOXN1):c.1203C>A (p.Pro401=) rs375002692 0.00003
NM_001369369.1(FOXN1):c.1815C>T (p.Ser605=) rs369425799 0.00003
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=) rs767564445 0.00003
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val) rs772070566 0.00003
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn) rs755333803 0.00003
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg) rs774004189 0.00003
NM_001378964.1(CDON):c.2763C>T (p.Cys921=) rs146413034 0.00003
NM_001395413.1(POR):c.1176C>T (p.Tyr392=) rs782192787 0.00003
NM_001395413.1(POR):c.315C>T (p.Tyr105=) rs782376709 0.00003
NM_001457.4(FLNB):c.3289G>A (p.Val1097Ile) rs144874876 0.00003
NM_001457.4(FLNB):c.3652G>A (p.Ala1218Thr) rs370716086 0.00003
NM_001457.4(FLNB):c.3792C>A (p.Asp1264Glu) rs200622119 0.00003
NM_001457.4(FLNB):c.4062-8C>T rs369254062 0.00003
NM_001457.4(FLNB):c.4170C>T (p.Phe1390=) rs374070003 0.00003
NM_001457.4(FLNB):c.4185C>T (p.Tyr1395=) rs373754367 0.00003
NM_001482.3(GATM):c.1159+14A>G rs368974196 0.00003
NM_001609.4(ACADSB):c.675T>C (p.Pro225=) rs770933347 0.00003
NM_001613.4(ACTA2):c.390T>C (p.Asn130=) rs141933412 0.00003
NM_001754.5(RUNX1):c.585C>T (p.Ile195=) rs2057541413 0.00003
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile) rs768110640 0.00003
NM_001844.5(COL2A1):c.708+14C>T rs769173275 0.00003
NM_001943.5(DSG2):c.2162A>G (p.His721Arg) rs756912703 0.00003
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met) rs727504783 0.00003
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala) rs727502985 0.00003
NM_001999.4(FBN2):c.2214A>T (p.Gly738=) rs201548788 0.00003
NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser) rs762567430 0.00003
NM_001999.4(FBN2):c.4914C>T (p.Gly1638=) rs1482008222 0.00003
NM_001999.4(FBN2):c.7338T>C (p.Asp2446=) rs751824761 0.00003
NM_002103.5(GYS1):c.222G>A (p.Arg74=) rs748174034 0.00003
NM_002103.5(GYS1):c.741G>A (p.Ala247=) rs3745692 0.00003
NM_002225.5(IVD):c.1139-8G>C rs755640305 0.00003
NM_002292.4(LAMB2):c.76+10C>T rs370554848 0.00003
NM_002474.3(MYH11):c.1402-14C>T rs375973110 0.00003
NM_002474.3(MYH11):c.5421C>T (p.Ala1807=) rs145857508 0.00003
NM_002474.3(MYH11):c.546C>T (p.Ala182=) rs113577450 0.00003
NM_002485.5(NBN):c.702+9G>A rs748373099 0.00003
NM_002529.4(NTRK1):c.2355C>T (p.Ala785=) rs772156529 0.00003
NM_002617.4(PEX10):c.280G>A (p.Val94Met) rs142626035 0.00003
NM_002617.4(PEX10):c.601-75G>A rs369211467 0.00003
NM_002633.3(PGM1):c.1144+10A>G rs886046482 0.00003
NM_002778.4(PSAP):c.798G>A (p.Ala266=) rs199672678 0.00003
NM_002900.3(RBP3):c.717C>T (p.Ala239=) rs146269396 0.00003
NM_003060.4(SLC22A5):c.1587-11T>G rs772775759 0.00003
NM_003119.4(SPG7):c.663G>A (p.Lys221=) rs575421836 0.00003
NM_003240.5(LEFTY2):c.810T>C (p.Ile270=) rs751370455 0.00003
NM_003242.6(TGFBR2):c.1470C>T (p.Asn490=) rs141113059 0.00003
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=) rs201560560 0.00003
NM_003283.6(TNNT1):c.47-6C>G rs375682055 0.00003
NM_003331.5(TYK2):c.2646G>C (p.Pro882=) rs184567726 0.00003
NM_003334.4(UBA1):c.1683T>C (p.Asp561=) rs781873529 0.00003
NM_003384.3(VRK1):c.1069-9A>G rs767585930 0.00003
NM_003560.4(PLA2G6):c.1983G>A (p.Thr661=) rs150572286 0.00003
NM_003560.4(PLA2G6):c.895-5C>T rs372128546 0.00003
NM_003664.5(AP3B1):c.519A>G (p.Ala173=) rs747459337 0.00003
NM_003690.5(PRKRA):c.654G>A (p.Leu218=) rs763093482 0.00003
NM_003721.4(RFXANK):c.501C>A (p.Gly167=) rs145457604 0.00003
NM_003896.4(ST3GAL5):c.849+15T>G rs768216151 0.00003
NM_003907.3(EIF2B5):c.1914C>T (p.Arg638=) rs751446315 0.00003
NM_003919.3(SGCE):c.471G>A (p.Pro157=) rs747531940 0.00003
NM_003982.4(SLC7A7):c.1494T>C (p.Asp498=) rs765682604 0.00003
NM_004035.7(ACOX1):c.825C>T (p.Tyr275=) rs542159010 0.00003
NM_004239.4(TRIP11):c.4128G>T (p.Ser1376=) rs373454645 0.00003
NM_004239.4(TRIP11):c.4206A>G (p.Gln1402=) rs746081059 0.00003
NM_004239.4(TRIP11):c.4443G>A (p.Ala1481=) rs372272441 0.00003
NM_004304.5(ALK):c.4425C>T (p.His1475=) rs139039449 0.00003
NM_004304.5(ALK):c.615C>G (p.Ser205=) rs567498111 0.00003
NM_004320.6(ATP2A1):c.1962G>A (p.Thr654=) rs773807881 0.00003
NM_004415.4(DSP):c.1743C>T (p.Ala581=) rs139095230 0.00003
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn) rs764951792 0.00003
NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln) rs370063434 0.00003
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala) rs886061748 0.00003
NM_004453.4(ETFDH):c.142A>G (p.Ile48Val) rs201823591 0.00003
NM_004519.4(KCNQ3):c.2079G>A (p.Pro693=) rs145204452 0.00003
NM_004525.3(LRP2):c.13002C>T (p.Cys4334=) rs774133574 0.00003
NM_004655.4(AXIN2):c.2196G>A (p.Thr732=) rs878854725 0.00003
NM_004656.4(BAP1):c.2175G>A (p.Lys725=) rs760537008 0.00003
NM_004820.5(CYP7B1):c.1323G>A (p.Pro441=) rs201281307 0.00003
NM_005198.5(CHKB):c.927+10C>G rs549171476 0.00003
NM_005267.5(GJA8):c.183C>T (p.Cys61=) rs782213276 0.00003
NM_005546.4(ITK):c.1563G>A (p.Pro521=) rs767821181 0.00003
NM_005609.4(PYGM):c.2412G>A (p.Arg804=) rs199927544 0.00003
NM_005726.6(TSFM):c.816C>T (p.Asp272=) rs183575246 0.00003
NM_006005.3(WFS1):c.1263C>T (p.Ile421=) rs748103155 0.00003
NM_006371.5(CRTAP):c.376C>T (p.Leu126=) rs756961672 0.00003
NM_006790.3(MYOT):c.817-11T>C rs377759571 0.00003
NM_006892.4(DNMT3B):c.102G>A (p.Ser34=) rs564154904 0.00003
NM_006892.4(DNMT3B):c.684C>T (p.Leu228=) rs373811098 0.00003
NM_006949.4(STXBP2):c.1362G>A (p.Ser454=) rs980486322 0.00003
NM_006949.4(STXBP2):c.1620C>T (p.Gly540=) rs374131788 0.00003
NM_006949.4(STXBP2):c.321C>T (p.Thr107=) rs886054703 0.00003
NM_006996.3(SLC19A2):c.-12C>G rs772886076 0.00003
NM_007055.4(POLR3A):c.3697C>A (p.Arg1233=) rs576629157 0.00003
NM_007272.3(CTRC):c.174G>A (p.Thr58=) rs746721892 0.00003
NM_007294.4(BRCA1):c.5333-8C>T rs80358084 0.00003
NM_007294.4(BRCA1):c.671-10A>G rs398122707 0.00003
NM_012092.4(ICOS):c.42C>A (p.Arg14=) rs765158675 0.00003
NM_012092.4(ICOS):c.510A>G (p.Ser170=) rs148435889 0.00003
NM_012213.3(MLYCD):c.1344C>T (p.Cys448=) rs534173407 0.00003
NM_012213.3(MLYCD):c.505C>T (p.Leu169=) rs771885443 0.00003
NM_012213.3(MLYCD):c.762C>T (p.His254=) rs773274796 0.00003
NM_012472.6(DNAAF11):c.408A>G (p.Val136=) rs762081490 0.00003
NM_014140.4(SMARCAL1):c.1407C>T (p.Ile469=) rs750621192 0.00003
NM_014140.4(SMARCAL1):c.1414G>A (p.Ala472Thr) rs571392819 0.00003
NM_014141.6(CNTNAP2):c.2241G>A (p.Ala747=) rs758102050 0.00003
NM_014141.6(CNTNAP2):c.2460C>T (p.Ser820=) rs144496909 0.00003
NM_014141.6(CNTNAP2):c.3797-5G>A rs745770134 0.00003
NM_014249.4(NR2E3):c.245+9G>A rs538864090 0.00003
NM_014336.5(AIPL1):c.785-11G>A rs199772097 0.00003
NM_014339.7(IL17RA):c.1728C>T (p.Asp576=) rs767714232 0.00003
NM_014339.7(IL17RA):c.1986G>A (p.Pro662=) rs990617336 0.00003
NM_014363.6(SACS):c.5169A>G (p.Ala1723=) rs200699984 0.00003
NM_014363.6(SACS):c.7101G>A (p.Ala2367=) rs764702321 0.00003
NM_014363.6(SACS):c.7497C>T (p.Val2499=) rs774558627 0.00003
NM_014384.3(ACAD8):c.1233C>T (p.Ser411=) rs146145710 0.00003
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe) rs764912104 0.00003
NM_014714.4(IFT140):c.2650C>T (p.Arg884Trp) rs554196965 0.00003
NM_014714.4(IFT140):c.2692G>A (p.Val898Met) rs369457143 0.00003
NM_014714.4(IFT140):c.2781G>A (p.Ser927=) rs773225207 0.00003
NM_014714.4(IFT140):c.657G>A (p.Glu219=) rs757028149 0.00003
NM_014855.3(AP5Z1):c.1455-12C>T rs1038026978 0.00003
NM_014874.4(MFN2):c.2145C>T (p.Ala715=) rs571011689 0.00003
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr) rs973841786 0.00003
NM_015474.4(SAMHD1):c.990T>C (p.Asp330=) rs756532676 0.00003
NM_016219.5(MAN1B1):c.792C>T (p.Tyr264=) rs777042053 0.00003
NM_017534.6(MYH2):c.2655G>A (p.Thr885=) rs141764966 0.00003
NM_017739.4(POMGNT1):c.698C>T (p.Ser233Phe) rs569061665 0.00003
NM_017882.3(CLN6):c.831C>T (p.Val277=) rs753344266 0.00003
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=) rs934259733 0.00003
NM_018718.3(CEP41):c.757+11T>C rs1050676312 0.00003
NM_020376.4(PNPLA2):c.487-7G>C rs372342635 0.00003
NM_020451.3(SELENON):c.1704G>A (p.Pro568=) rs754350384 0.00003
NM_020529.3(NFKBIA):c.547+10C>T rs201614038 0.00003
NM_020686.6(ABAT):c.1123-15C>T rs376574278 0.00003
NM_020686.6(ABAT):c.168+13C>T rs759610129 0.00003
NM_020686.6(ABAT):c.708C>T (p.Ile236=) rs778110660 0.00003
NM_020975.6(RET):c.1760-12G>A rs377767392 0.00003
NM_021625.5(TRPV4):c.1038C>T (p.Tyr346=) rs750086412 0.00003
NM_021728.4(OTX2):c.270G>T (p.Val90=) rs747916036 0.00003
NM_021957.4(GYS2):c.627T>A (p.Leu209=) rs767838400 0.00003
NM_022041.4(GAN):c.283-15A>G rs754182168 0.00003
NM_022098.4(XPNPEP3):c.1188T>C (p.Leu396=) rs146309087 0.00003
NM_022132.5(MCCC2):c.864G>A (p.Arg288=) rs368236133 0.00003
NM_022464.5(SIL1):c.930C>T (p.Leu310=) rs147797471 0.00003
NM_024105.4(ALG12):c.183C>T (p.Pro61=) rs749156618 0.00003
NM_024422.6(DSC2):c.2250+12G>T rs201039801 0.00003
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NM_024649.5(BBS1):c.1338C>T (p.Thr446=) rs368302072 0.00003
NM_024685.4(BBS10):c.462G>A (p.Leu154=) rs764687344 0.00003
NM_025099.6(CTC1):c.3504C>T (p.Ile1168=) rs760547081 0.00003
NM_025137.4(SPG11):c.4137A>G (p.Gln1379=) rs748617459 0.00003
NM_030777.4(SLC2A10):c.1596C>T (p.Tyr532=) rs886056727 0.00003
NM_031433.4(MFRP):c.1461C>A (p.Ile487=) rs202139926 0.00003
NM_031433.4(MFRP):c.1506C>T (p.Ser502=) rs773497972 0.00003
NM_032409.3(PINK1):c.960-11C>T rs371943401 0.00003
NM_032520.5(GNPTG):c.234-8G>T rs369333639 0.00003
NM_032520.5(GNPTG):c.42C>T (p.Leu14=) rs776361173 0.00003
NM_032634.4(PIGO):c.2854+7C>A rs768338180 0.00003
NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile) rs149439295 0.00003
NM_033305.3(VPS13A):c.5725T>C (p.Leu1909=) rs139817600 0.00003
NM_052845.4(MMAB):c.732G>A (p.Ser244=) rs186864802 0.00003
NM_052859.4(RFT1):c.23G>A (p.Gly8Asp) rs151322409 0.00003
NM_052872.4(IL17F):c.427T>C (p.Leu143=) rs1015495067 0.00003
NM_053013.4(ENO3):c.1047G>A (p.Ser349=) rs527864393 0.00003
NM_053025.4(MYLK):c.2781C>T (p.Ala927=) rs12172928 0.00003
NM_053025.4(MYLK):c.4104C>T (p.Ile1368=) rs376676607 0.00003
NM_053025.4(MYLK):c.4743C>T (p.Ile1581=) rs371814184 0.00003
NM_054012.4(ASS1):c.786C>T (p.Gly262=) rs536799104 0.00003
NM_080911.3(UNG):c.36C>A (p.Ser12=) rs772832695 0.00003
NM_133642.5(LARGE1):c.2208G>A (p.Gln736=) rs759427879 0.00003
NM_138387.4(G6PC3):c.219-13T>C rs773122600 0.00003
NM_138694.4(PKHD1):c.11507-8C>T rs755710579 0.00003
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr) rs181546197 0.00003
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr) rs201611688 0.00003
NM_138694.4(PKHD1):c.708-4G>A rs748018742 0.00003
NM_138711.6(PPARG):c.145G>A (p.Glu49Lys) rs777334819 0.00003
NM_139343.3(BIN1):c.1473T>C (p.Pro491=) rs779756862 0.00003
NM_139343.3(BIN1):c.675G>A (p.Glu225=) rs148179522 0.00003
NM_144687.4(NLRP12):c.3003C>T (p.Thr1001=) rs556001110 0.00003
NM_144687.4(NLRP12):c.858C>T (p.Pro286=) rs145171629 0.00003
NM_145649.5(GCNT2):c.1018+15C>G rs78667015 0.00003
NM_145861.4(EDARADD):c.600C>T (p.Asp200=) rs74942492 0.00003
NM_152296.5(ATP1A3):c.3013+12C>T rs782424595 0.00003
NM_152383.5(DIS3L2):c.453G>A (p.Pro151=) rs567611268 0.00003
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met) rs547184348 0.00003
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=) rs775883776 0.00003
NM_152783.5(D2HGDH):c.1083G>A (p.Ala361=) rs183342534 0.00003
NM_152783.5(D2HGDH):c.1141-12C>T rs753825335 0.00003
NM_152783.5(D2HGDH):c.324G>A (p.Thr108=) rs371102955 0.00003
NM_153603.4(COG7):c.1167G>A (p.Gln389=) rs201313774 0.00003
NM_153603.4(COG7):c.1410-6G>C rs369925503 0.00003
NM_153603.4(COG7):c.1629T>C (p.Tyr543=) rs760342154 0.00003
NM_153603.4(COG7):c.1804-13G>A rs759680428 0.00003
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433 0.00003
NM_170707.4(LMNA):c.937-8C>A rs751707982 0.00003
NM_173842.3(IL1RN):c.414T>C (p.Ser138=) rs146491054 0.00003
NM_174936.4(PCSK9):c.1954A>G (p.Asn652Asp) rs201280059 0.00003
NM_177438.3(DICER1):c.2133T>C (p.His711=) rs878855248 0.00003
NM_178170.3(NEK8):c.48-10G>A rs769058088 0.00003
NM_182894.3(VSX2):c.777G>A (p.Ser259=) rs371707151 0.00003
NM_182914.3(SYNE2):c.18963G>T (p.Leu6321=) rs757232346 0.00003
NM_182914.3(SYNE2):c.6880-4G>A rs776756586 0.00003
NM_183235.3(RAB27A):c.344-10A>G rs199702031 0.00003
NM_198578.4(LRRK2):c.1446A>G (p.Ala482=) rs757454147 0.00003
NM_206937.2(LIG4):c.2274T>C (p.Tyr758=) rs529756815 0.00003
NM_000016.6(ACADM):c.276A>G (p.Pro92=) rs1212443202 0.00002
NM_000016.6(ACADM):c.927C>T (p.Phe309=) rs771550655 0.00002
NM_000018.4(ACADVL):c.963C>T (p.Asn321=) rs568118142 0.00002
NM_000020.3(ACVRL1):c.270C>T (p.Cys90=) rs556168617 0.00002
NM_000020.3(ACVRL1):c.429C>T (p.Val143=) rs762047618 0.00002
NM_000022.4(ADA):c.282C>T (p.Gly94=) rs771207375 0.00002
NM_000030.3(AGXT):c.942+14T>G rs886055843 0.00002
NM_000035.4(ALDOB):c.954T>C (p.Ala318=) rs572044496 0.00002
NM_000037.4(ANK1):c.1563C>T (p.Ala521=) rs762615459 0.00002
NM_000037.4(ANK1):c.1824C>T (p.Ile608=) rs144904116 0.00002
NM_000037.4(ANK1):c.5520C>T (p.Ala1840=) rs116148295 0.00002
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075 0.00002
NM_000038.6(APC):c.5424C>T (p.Asn1808=) rs747721259 0.00002
NM_000048.4(ASL):c.243G>C (p.Leu81=) rs774204716 0.00002
NM_000051.4(ATM):c.5002C>T (p.Leu1668=) rs747317946 0.00002
NM_000051.4(ATM):c.660G>A (p.Ala220=) rs763669136 0.00002
NM_000053.4(ATP7B):c.1122C>G (p.Val374=) rs201254466 0.00002
NM_000053.4(ATP7B):c.1230A>G (p.Pro410=) rs772843652 0.00002
NM_000053.4(ATP7B):c.3582C>T (p.Ile1194=) rs761183334 0.00002
NM_000090.4(COL3A1):c.4020C>T (p.Tyr1340=) rs766750333 0.00002
NM_000092.5(COL4A4):c.1893A>G (p.Gly631=) rs370886041 0.00002
NM_000096.4(CP):c.229G>C (p.Asp77His) rs200683433 0.00002
NM_000096.4(CP):c.2310G>A (p.Lys770=) rs553883583 0.00002
NM_000108.5(DLD):c.1503G>A (p.Ala501=) rs766286119 0.00002
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=) rs782564325 0.00002
NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val) rs376411022 0.00002
NM_000127.3(EXT1):c.210A>G (p.Gln70=) rs367543871 0.00002
NM_000130.5(F5):c.3402C>A (p.Asp1134Glu) rs373880789 0.00002
NM_000135.4(FANCA):c.1226-12G>C rs36011345 0.00002
NM_000135.4(FANCA):c.1567-11C>A rs34353618 0.00002
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser) rs762439008 0.00002
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=) rs146062039 0.00002
NM_000135.4(FANCA):c.386C>T (p.Ala129Val) rs577625130 0.00002
NM_000135.4(FANCA):c.837C>T (p.Asp279=) rs752311383 0.00002
NM_000135.4(FANCA):c.87G>A (p.Arg29=) rs760787108 0.00002
NM_000137.4(FAH):c.391C>T (p.Arg131Trp) rs147946196 0.00002
NM_000147.5(FUCA1):c.1260+7A>C rs771229488 0.00002
NM_000152.5(GAA):c.687C>T (p.Arg229=) rs149814041 0.00002
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846 0.00002
NM_000153.4(GALC):c.318G>A (p.Gly106=) rs886050867 0.00002
NM_000156.6(GAMT):c.225G>A (p.Ala75=) rs202151546 0.00002
NM_000158.4(GBE1):c.556-6C>T rs754051144 0.00002
NM_000159.4(GCDH):c.1083-10C>T rs756372984 0.00002
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00002
NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn) rs730881798 0.00002
NM_000182.5(HADHA):c.1794T>C (p.His598=) rs149021400 0.00002
NM_000186.4(CFH):c.3156C>T (p.Pro1052=) rs764539113 0.00002
NM_000191.3(HMGCL):c.828G>A (p.Leu276=) rs771024022 0.00002
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val) rs527336882 0.00002
NM_000211.5(ITGB2):c.1125C>T (p.Pro375=) rs754762370 0.00002
NM_000211.5(ITGB2):c.59-9G>A rs141780263 0.00002
NM_000214.3(JAG1):c.2199C>T (p.Gly733=) rs756062969 0.00002
NM_000214.3(JAG1):c.2739C>T (p.Ser913=) rs766479402 0.00002
NM_000215.4(JAK3):c.1653A>G (p.Thr551=) rs201698409 0.00002
NM_000215.4(JAK3):c.2692C>T (p.Leu898=) rs202043320 0.00002
NM_000243.3(MEFV):c.344C>G (p.Pro115Arg) rs201766654 0.00002
NM_000246.4(CIITA):c.3318-8C>G rs201115726 0.00002
NM_000249.4(MLH1):c.928A>G (p.Thr310Ala) rs779581111 0.00002
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=) rs397515929 0.00002
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=) rs150241539 0.00002
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn) rs145520567 0.00002
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) rs372535399 0.00002
NM_000264.5(PTCH1):c.1120G>A (p.Glu374Lys) rs144323077 0.00002
NM_000264.5(PTCH1):c.3066C>T (p.Ile1022=) rs755755175 0.00002
NM_000268.4(NF2):c.600-13G>A rs374509697 0.00002
NM_000271.5(NPC1):c.2337C>T (p.Phe779=) rs367654655 0.00002
NM_000274.4(OAT):c.1245G>A (p.Ala415=) rs751449034 0.00002
NM_000274.4(OAT):c.477C>T (p.Thr159=) rs575839041 0.00002
NM_000282.4(PCCA):c.638-5G>A rs764316702 0.00002
NM_000290.4(PGAM2):c.252T>C (p.Thr84=) rs755125202 0.00002
NM_000302.4(PLOD1):c.1902+9G>T rs200395169 0.00002
NM_000302.4(PLOD1):c.742-6C>T rs569632202 0.00002
NM_000310.4(PPT1):c.537-12T>C rs1057515556 0.00002
NM_000335.5(SCN5A):c.2001C>T (p.Ser667=) rs587781161 0.00002
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00002
NM_000335.5(SCN5A):c.3795C>T (p.Tyr1265=) rs371610895 0.00002
NM_000335.5(SCN5A):c.495C>T (p.Thr165=) rs62242804 0.00002
NM_000343.4(SLC5A1):c.1725G>A (p.Ala575=) rs368853644 0.00002
NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=) rs886046565 0.00002
NM_000350.3(ABCA4):c.3540G>A (p.Ser1180=) rs767212006 0.00002
NM_000350.3(ABCA4):c.3867C>T (p.Gly1289=) rs573418899 0.00002
NM_000350.3(ABCA4):c.4194C>T (p.Gly1398=) rs763857670 0.00002
NM_000360.4(TH):c.1422C>T (p.Ala474=) rs375735482 0.00002
NM_000360.4(TH):c.360G>A (p.Arg120=) rs761868828 0.00002
NM_000365.6(TPI1):c.543+5C>G rs782153322 0.00002
NM_000368.5(TSC1):c.2323C>T (p.Leu775Phe) rs868755168 0.00002
NM_000387.6(SLC25A20):c.719-10T>C rs769684089 0.00002
NM_000387.6(SLC25A20):c.894C>A (p.Thr298=) rs766966542 0.00002
NM_000391.4(TPP1):c.1281G>A (p.Thr427=) rs577520250 0.00002
NM_000391.4(TPP1):c.1552-9C>T rs369699167 0.00002
NM_000417.3(IL2RA):c.669G>A (p.Gln223=) rs539966138 0.00002
NM_000419.5(ITGA2B):c.3061-4C>T rs530669664 0.00002
NM_000426.4(LAMA2):c.5072-10C>A rs552989582 0.00002
NM_000426.4(LAMA2):c.6567C>T (p.Ala2189=) rs748650667 0.00002
NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile) rs199814707 0.00002
NM_000429.3(MAT1A):c.1059C>T (p.Phe353=) rs777896485 0.00002
NM_000429.3(MAT1A):c.1074C>T (p.Gly358=) rs373567910 0.00002
NM_000429.3(MAT1A):c.642G>A (p.Thr214=) rs539772339 0.00002
NM_000433.4(NCF2):c.196C>A (p.Arg66=) rs750782115 0.00002
NM_000454.5(SOD1):c.66G>A (p.Glu22=) rs756458346 0.00002
NM_000492.4(CFTR):c.2259C>T (p.Ser753=) rs201888075 0.00002
NM_000492.4(CFTR):c.3024C>T (p.Val1008=) rs774643457 0.00002
NM_000492.4(CFTR):c.627A>G (p.Ala209=) rs397508773 0.00002
NM_000501.4(ELN):c.2131+14C>T rs782790041 0.00002
NM_000506.5(F2):c.882C>T (p.Ala294=) rs370819135 0.00002
NM_000512.5(GALNS):c.1059G>A (p.Ala353=) rs768334388 0.00002
NM_000512.5(GALNS):c.256C>T (p.Leu86=) rs190707335 0.00002
NM_000521.4(HEXB):c.1083-14A>C rs776536464 0.00002
NM_000527.5(LDLR):c.2100C>T (p.Asp700=) rs759858813 0.00002
NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=) rs771761940 0.00002
NM_000528.4(MAN2B1):c.2469C>T (p.Arg823=) rs561895292 0.00002
NM_000532.5(PCCB):c.45C>T (p.Ser15=) rs754664563 0.00002
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464 0.00002
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413 0.00002
NM_000540.3(RYR1):c.10230G>A (p.Pro3410=) rs774663618 0.00002
NM_000540.3(RYR1):c.11385C>T (p.Ser3795=) rs757745087 0.00002
NM_000540.3(RYR1):c.12624+9A>G rs548515798 0.00002
NM_000540.3(RYR1):c.13617C>T (p.Gly4539=) rs2302296 0.00002
NM_000540.3(RYR1):c.14697G>A (p.Gly4899=) rs770698609 0.00002
NM_000540.3(RYR1):c.3123C>T (p.Ala1041=) rs569565316 0.00002
NM_000540.3(RYR1):c.3252C>T (p.Ser1084=) rs144164620 0.00002
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=) rs374115286 0.00002
NM_000540.3(RYR1):c.7488G>A (p.Pro2496=) rs375997435 0.00002
NM_000540.3(RYR1):c.7855C>T (p.Leu2619=) rs762212220 0.00002
NM_000540.3(RYR1):c.8466G>A (p.Thr2822=) rs761622550 0.00002
NM_000540.3(RYR1):c.9122+8G>A rs772116480 0.00002
NM_000540.3(RYR1):c.9555-14G>A rs763353979 0.00002
NM_000540.3(RYR1):c.9825C>T (p.Pro3275=) rs753425281 0.00002
NM_000553.6(WRN):c.3417T>C (p.Ser1139=) rs752542644 0.00002
NM_000642.3(AGL):c.2682-7T>C rs375256646 0.00002
NM_000751.3(CHRND):c.893G>A (p.Arg298His) rs139722128 0.00002
NM_000784.4(CYP27A1):c.322C>T (p.Leu108=) rs192344487 0.00002
NM_000784.4(CYP27A1):c.507G>A (p.Ala169=) rs776260288 0.00002
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=) rs200506778 0.00002
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=) rs751692931 0.00002
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=) rs764766872 0.00002
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=) rs368325383 0.00002
NM_001005242.3(PKP2):c.387G>A (p.Gln129=) rs768974835 0.00002
NM_001005373.4(LRSAM1):c.1159+13A>T rs756667241 0.00002
NM_001025603.2(RFX5):c.1236A>G (p.Thr412=) rs771403545 0.00002
NM_001025603.2(RFX5):c.1797G>A (p.Val599=) rs772352167 0.00002
NM_001025603.2(RFX5):c.807T>G (p.Gly269=) rs147137349 0.00002
NM_001025603.2(RFX5):c.858+13G>A rs778371620 0.00002
NM_001032386.2(SUOX):c.192C>T (p.Leu64=) rs577360771 0.00002
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln) rs748805290 0.00002
NM_001035.3(RYR2):c.1404G>A (p.Glu468=) rs768538183 0.00002
NM_001035.3(RYR2):c.4899T>C (p.Pro1633=) rs1060503853 0.00002
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu) rs754364233 0.00002
NM_001040108.2(MLH3):c.3020A>G (p.Asn1007Ser) rs776639203 0.00002
NM_001040436.3(YARS2):c.626A>G (p.Lys209Arg) rs541554381 0.00002
NM_001040716.2(PC):c.1377C>T (p.Ile459=) rs201776268 0.00002
NM_001040716.2(PC):c.1514-13G>A rs773976056 0.00002
NM_001040716.2(PC):c.1664G>A (p.Arg555Gln) rs148613404 0.00002
NM_001040716.2(PC):c.3213C>T (p.Ala1071=) rs774982916 0.00002
NM_001040716.2(PC):c.543C>T (p.His181=) rs139717038 0.00002
NM_001042492.3(NF1):c.2023G>A (p.Gly675Arg) rs779546178 0.00002
NM_001042492.3(NF1):c.7457+8G>T rs376147282 0.00002
NM_001065.4(TNFRSF1A):c.228G>A (p.Gly76=) rs104895274 0.00002
NM_001080.3(ALDH5A1):c.1320C>T (p.Phe440=) rs771829991 0.00002
NM_001083116.3(PRF1):c.1305G>A (p.Thr435=) rs200167080 0.00002
NM_001114753.3(ENG):c.1806C>T (p.Ile602=) rs373002544 0.00002
NM_001130823.3(DNMT1):c.867C>T (p.Asp289=) rs750916721 0.00002
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp) rs527435707 0.00002
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=) rs769518034 0.00002
NM_001130987.2(DYSF):c.3321C>T (p.Phe1107=) rs945602962 0.00002
NM_001130987.2(DYSF):c.4932C>T (p.Ile1644=) rs763309812 0.00002
NM_001130987.2(DYSF):c.6254C>A (p.Ala2085Asp) rs1271141178 0.00002
NM_001134363.3(RBM20):c.1135G>A (p.Gly379Arg) rs199842148 0.00002
NM_001134363.3(RBM20):c.1748G>A (p.Gly583Asp) rs767827357 0.00002
NM_001134363.3(RBM20):c.954A>G (p.Gln318=) rs766779254 0.00002
NM_001134407.3(GRIN2A):c.1380C>T (p.Cys460=) rs375291296 0.00002
NM_001148.6(ANK2):c.11652A>G (p.Glu3884=) rs752145926 0.00002
NM_001160372.4(TRAPPC9):c.2988G>A (p.Glu996=) rs142048892 0.00002
NM_001161352.2(KCNMA1):c.3138C>G (p.Leu1046=) rs766964098 0.00002
NM_001164508.2(NEB):c.12258G>C (p.Leu4086=) rs371771414 0.00002
NM_001164508.2(NEB):c.16735C>T (p.Arg5579Cys) rs762876022 0.00002
NM_001164508.2(NEB):c.17161G>A (p.Val5721Met) rs746737604 0.00002
NM_001164508.2(NEB):c.19385C>T (p.Pro6462Leu) rs369054525 0.00002
NM_001164508.2(NEB):c.25028G>A (p.Arg8343Gln) rs886054926 0.00002
NM_001164508.2(NEB):c.25414C>T (p.Arg8472Cys) rs542706227 0.00002
NM_001164508.2(NEB):c.2940T>C (p.Asn980=) rs1472489170 0.00002
NM_001164508.2(NEB):c.3094C>T (p.Pro1032Ser) rs544334101 0.00002
NM_001164508.2(NEB):c.4548T>C (p.Tyr1516=) rs748479655 0.00002
NM_001164508.2(NEB):c.4666C>T (p.Pro1556Ser) rs756692621 0.00002
NM_001164508.2(NEB):c.7233A>G (p.Leu2411=) rs1023030953 0.00002
NM_001164688.2(RD3):c.102G>A (p.Thr34=) rs199511076 0.00002
NM_001166114.2(PNPLA6):c.2028G>A (p.Lys676=) rs779751590 0.00002
NM_001256545.2(MEGF10):c.2919G>A (p.Val973=) rs770936974 0.00002
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540 0.00002
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766 0.00002
NM_001277115.2(DNAH11):c.1053G>A (p.Glu351=) rs201475447 0.00002
NM_001297.5(CNGB1):c.1482T>C (p.Ser494=) rs769840807 0.00002
NM_001355436.2(SPTB):c.3311C>G (p.Ala1104Gly) rs374648585 0.00002
NM_001360.3(DHCR7):c.99-11C>T rs371964662 0.00002
NM_001365088.1(SLC12A6):c.2385C>T (p.Val795=) rs562984167 0.00002
NM_001365088.1(SLC12A6):c.576C>T (p.Tyr192=) rs774081365 0.00002
NM_001365088.1(SLC12A6):c.849C>T (p.Tyr283=) rs753466496 0.00002
NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=) rs200185692 0.00002
NM_001368067.1(LDB3):c.456G>A (p.Ala152=) rs371708921 0.00002
NM_001369.3(DNAH5):c.13005C>T (p.Thr4335=) rs755271975 0.00002
NM_001369369.1(FOXN1):c.147G>A (p.Ser49=) rs148006498 0.00002
NM_001370658.1(BTD):c.1425C>A (p.Ile475=) rs780182371 0.00002
NM_001372051.1(CASP8):c.843C>A (p.Ile281=) rs199934929 0.00002
NM_001376.5(DYNC1H1):c.10575T>C (p.Arg3525=) rs763119040 0.00002
NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=) rs35143882 0.00002
NM_001376.5(DYNC1H1):c.11056-10A>G rs751676054 0.00002
NM_001376.5(DYNC1H1):c.2352C>T (p.Ser784=) rs149028205 0.00002
NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=) rs755543897 0.00002
NM_001376.5(DYNC1H1):c.5424A>G (p.Leu1808=) rs770425304 0.00002
NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=) rs776544497 0.00002
NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=) rs200885538 0.00002
NM_001377.3(DYNC2H1):c.4127+10A>G rs369188420 0.00002
NM_001377.3(DYNC2H1):c.5212G>A (p.Gly1738Ser) rs370669724 0.00002
NM_001378964.1(CDON):c.2159-14G>A rs752818698 0.00002
NM_001384474.1(LOXHD1):c.6333C>T (p.Tyr2111=) rs374858340 0.00002
NM_001386393.1(PANK2):c.694T>C (p.Leu232=) rs143090515 0.00002
NM_001395413.1(POR):c.1143G>A (p.Pro381=) rs375444057 0.00002
NM_001395413.1(POR):c.1389+10G>A rs782345141 0.00002
NM_001395413.1(POR):c.1926C>T (p.Thr642=) rs557596726 0.00002
NM_001457.4(FLNB):c.1628T>C (p.Val543Ala) rs773177128 0.00002
NM_001457.4(FLNB):c.2529C>T (p.His843=) rs762942290 0.00002
NM_001457.4(FLNB):c.6108C>T (p.Ser2036=) rs767210448 0.00002
NM_001457.4(FLNB):c.7167C>T (p.Ala2389=) rs781119139 0.00002
NM_001540.5(HSPB1):c.216C>T (p.Ala72=) rs11547168 0.00002
NM_001698.3(AUH):c.655+7G>A rs748099966 0.00002
NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala) rs748511528 0.00002
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser) rs537186508 0.00002
NM_001999.4(FBN2):c.1253T>C (p.Met418Thr) rs769840338 0.00002
NM_001999.4(FBN2):c.1685C>T (p.Ala562Val) rs886059902 0.00002
NM_001999.4(FBN2):c.1961G>A (p.Arg654His) rs780589159 0.00002
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe) rs760483684 0.00002
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp) rs774248421 0.00002
NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val) rs150986564 0.00002
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=) rs765676702 0.00002
NM_002185.5(IL7R):c.111C>T (p.Asp37=) rs763937095 0.00002
NM_002185.5(IL7R):c.990G>A (p.Gln330=) rs201093124 0.00002
NM_002225.5(IVD):c.1138+13C>T rs770658726 0.00002
NM_002292.4(LAMB2):c.3273T>C (p.Gly1091=) rs369406683 0.00002
NM_002474.3(MYH11):c.1401+10G>A rs375209947 0.00002
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser) rs563865467 0.00002
NM_002474.3(MYH11):c.2010C>T (p.Asn670=) rs774336703 0.00002
NM_002474.3(MYH11):c.5772C>G (p.Leu1924=) rs774511118 0.00002
NM_002485.5(NBN):c.1125-3C>T rs587781326 0.00002
NM_002529.4(NTRK1):c.1917G>A (p.Val639=) rs760171782 0.00002
NM_002529.4(NTRK1):c.2047-8C>T rs769308621 0.00002
NM_002529.4(NTRK1):c.2169C>T (p.Tyr723=) rs140852621 0.00002
NM_002693.3(POLG):c.3549C>T (p.Val1183=) rs777231247 0.00002
NM_002778.4(PSAP):c.112A>T (p.Thr38Ser) rs535525554 0.00002
NM_002778.4(PSAP):c.1197C>T (p.His399=) rs748761213 0.00002
NM_002778.4(PSAP):c.40+12G>A rs886047153 0.00002
NM_003060.4(SLC22A5):c.522C>T (p.Phe174=) rs145350949 0.00002
NM_003119.4(SPG7):c.619-7C>A rs779835775 0.00002
NM_003238.6(TGFB2):c.1087-13T>G rs374394434 0.00002
NM_003283.6(TNNT1):c.73+15T>G rs759885491 0.00002
NM_003331.5(TYK2):c.3201-15C>T rs766488790 0.00002
NM_003331.5(TYK2):c.3555C>T (p.Ser1185=) rs372903125 0.00002
NM_003334.4(UBA1):c.954G>A (p.Thr318=) rs368506746 0.00002
NM_003560.4(PLA2G6):c.1348+10G>A rs761202760 0.00002
NM_003721.4(RFXANK):c.240C>T (p.Asn80=) rs754519730 0.00002
NM_003722.5(TP63):c.1761G>A (p.Leu587=) rs573105911 0.00002
NM_003764.4(STX11):c.585C>A (p.Ala195=) rs147525157 0.00002
NM_003896.4(ST3GAL5):c.1059C>T (p.Cys353=) rs149801673 0.00002
NM_003896.4(ST3GAL5):c.852A>G (p.Pro284=) rs534535305 0.00002
NM_003982.4(SLC7A7):c.342C>T (p.Phe114=) rs777682875 0.00002
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053 0.00002
NM_004035.7(ACOX1):c.510G>A (p.Val170=) rs752375436 0.00002
NM_004100.5(EYA4):c.1107+10C>G rs752586864 0.00002
NM_004181.5(UCHL1):c.412-4G>A rs765745344 0.00002
NM_004239.4(TRIP11):c.477C>T (p.Asp159=) rs147932068 0.00002
NM_004239.4(TRIP11):c.657+9A>C rs182914589 0.00002
NM_004304.5(ALK):c.3939-9C>T rs749848775 0.00002
NM_004320.6(ATP2A1):c.1314C>T (p.Gly438=) rs757274362 0.00002
NM_004320.6(ATP2A1):c.2082C>T (p.Tyr694=) rs749931257 0.00002
NM_004415.4(DSP):c.1149A>G (p.Glu383=) rs572980966 0.00002
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys) rs749051278 0.00002
NM_004415.4(DSP):c.3147G>A (p.Ser1049=) rs756341143 0.00002
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=) rs372440854 0.00002
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala) rs760433367 0.00002
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys) rs142078450 0.00002
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro) rs147484870 0.00002
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr) rs727504570 0.00002
NM_004655.4(AXIN2):c.897C>T (p.Asp299=) rs748143308 0.00002
NM_004870.4(MPDU1):c.121C>G (p.Leu41Val) rs199498675 0.00002
NM_005159.5(ACTC1):c.-36C>G rs886051091 0.00002
NM_005198.5(CHKB):c.745T>C (p.Leu249=) rs760310819 0.00002
NM_005271.5(GLUD1):c.330G>A (p.Lys110=) rs199752396 0.00002
NM_005518.4(HMGCS2):c.1236T>C (p.Tyr412=) rs773364048 0.00002
NM_005535.3(IL12RB1):c.1173G>A (p.Pro391=) rs772239442 0.00002
NM_005535.3(IL12RB1):c.1746C>T (p.Pro582=) rs759839534 0.00002
NM_005535.3(IL12RB1):c.1818C>T (p.Asp606=) rs886054300 0.00002
NM_005535.3(IL12RB1):c.561A>T (p.Gly187=) rs200542111 0.00002
NM_005566.4(LDHA):c.249T>C (p.Tyr83=) rs199653952 0.00002
NM_005591.4(MRE11):c.1233G>A (p.Glu411=) rs748756180 0.00002
NM_005591.4(MRE11):c.1404T>C (p.Asp468=) rs368144567 0.00002
NM_005591.4(MRE11):c.1758G>A (p.Ser586=) rs766372720 0.00002
NM_005609.4(PYGM):c.1239+8C>T rs886048461 0.00002
NM_005609.4(PYGM):c.346-9C>T rs368998655 0.00002
NM_005677.4(COLQ):c.942G>A (p.Pro314=) rs771944316 0.00002
NM_005787.6(ALG3):c.606-10C>T rs372141050 0.00002
NM_005908.4(MANBA):c.1317+14C>A rs200935345 0.00002
NM_006005.3(WFS1):c.1290G>A (p.Ser430=) rs752100338 0.00002
NM_006005.3(WFS1):c.2157C>T (p.Ala719=) rs766900991 0.00002
NM_006005.3(WFS1):c.2453G>A (p.Arg818His) rs575851859 0.00002
NM_006005.3(WFS1):c.345C>T (p.Gly115=) rs200385504 0.00002
NM_006087.4(TUBB4A):c.666C>T (p.Tyr222=) rs146906606 0.00002
NM_006206.6(PDGFRA):c.2811G>A (p.Pro937=) rs190260215 0.00002
NM_006371.5(CRTAP):c.1068+11T>C rs761750861 0.00002
NM_006371.5(CRTAP):c.282C>T (p.Pro94=) rs540998437 0.00002
NM_006892.4(DNMT3B):c.516C>T (p.Asp172=) rs202113400 0.00002
NM_006892.4(DNMT3B):c.810C>T (p.Ser270=) rs140518698 0.00002
NM_007294.4(BRCA1):c.4245A>G (p.Glu1415=) rs41293453 0.00002
NM_007375.4(TARDBP):c.963C>T (p.Ala321=) rs547979470 0.00002
NM_013247.5(HTRA2):c.873T>C (p.Asn291=) rs775948550 0.00002
NM_014000.3(VCL):c.1404G>A (p.Thr468=) rs772104870 0.00002
NM_014000.3(VCL):c.808T>C (p.Leu270=) rs727505339 0.00002
NM_014140.4(SMARCAL1):c.600G>A (p.Ser200=) rs530505647 0.00002
NM_014141.6(CNTNAP2):c.1248G>A (p.Ala416=) rs779901891 0.00002
NM_014141.6(CNTNAP2):c.2255+12C>T rs749270618 0.00002
NM_014141.6(CNTNAP2):c.2340A>G (p.Ser780=) rs778124698 0.00002
NM_014244.5(ADAMTS2):c.2172G>C (p.Val724=) rs150587776 0.00002
NM_014244.5(ADAMTS2):c.3423G>A (p.Glu1141=) rs886060490 0.00002
NM_014249.4(NR2E3):c.572-13C>T rs376114936 0.00002
NM_014290.3(TDRD7):c.1032A>G (p.Lys344=) rs111320552 0.00002
NM_014336.5(AIPL1):c.414C>T (p.Asp138=) rs565896898 0.00002
NM_014339.7(IL17RA):c.1167C>G (p.Pro389=) rs139412425 0.00002
NM_014363.6(SACS):c.10485G>A (p.Glu3495=) rs757255802 0.00002
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile) rs201724656 0.00002
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855 0.00002
NM_014363.6(SACS):c.8958C>T (p.His2986=) rs758029668 0.00002
NM_014384.3(ACAD8):c.491-6C>T rs772337149 0.00002
NM_014585.6(SLC40A1):c.272-14C>T rs771203234 0.00002
NM_014714.4(IFT140):c.1155+15G>A rs764275810 0.00002
NM_014714.4(IFT140):c.1944C>T (p.Pro648=) rs763449097 0.00002
NM_014714.4(IFT140):c.3390C>T (p.Ser1130=) rs765923171 0.00002
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His) rs147292597 0.00002
NM_014855.3(AP5Z1):c.702C>T (p.Asp234=) rs370728528 0.00002
NM_014946.4(SPAST):c.*11T>C rs753913367 0.00002
NM_015192.4(PLCB1):c.3477C>T (p.Leu1159=) rs774970817 0.00002
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) rs775153934 0.00002
NM_015915.5(ATL1):c.756C>T (p.Asn252=) rs771031586 0.00002
NM_016042.4(EXOSC3):c.324+15C>T rs775818894 0.00002
NM_016123.4(IRAK4):c.1191A>G (p.Leu397=) rs773095217 0.00002
NM_016219.5(MAN1B1):c.1255-13C>T rs765403325 0.00002
NM_016219.5(MAN1B1):c.657C>T (p.Thr219=) rs564784943 0.00002
NM_016219.5(MAN1B1):c.975C>T (p.Asp325=) rs202157161 0.00002
NM_017534.6(MYH2):c.5115A>G (p.Arg1705=) rs1042270 0.00002
NM_017636.4(TRPM4):c.3377C>G (p.Ser1126Trp) rs567938424 0.00002
NM_017866.6(TMEM70):c.210+11C>G rs928358741 0.00002
NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala) rs750899949 0.00002
NM_018129.4(PNPO):c.16C>A (p.Arg6=) rs765997859 0.00002
NM_018206.6(VPS35):c.1809A>T (p.Ala603=) rs142063738 0.00002
NM_018206.6(VPS35):c.648G>A (p.Leu216=) rs763697798 0.00002
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=) rs757392138 0.00002
NM_018389.5(SLC35C1):c.51C>T (p.Thr17=) rs768517924 0.00002
NM_018714.3(COG1):c.1890G>A (p.Gln630=) rs146046236 0.00002
NM_018834.6(MATR3):c.2114G>T (p.Ser705Ile) rs201970174 0.00002
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=) rs377483407 0.00002
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010 0.00002
NM_020366.4(RPGRIP1):c.1401A>G (p.Gln467=) rs184853466 0.00002
NM_020376.4(PNPLA2):c.1090C>T (p.Arg364Trp) rs577421006 0.00002
NM_020376.4(PNPLA2):c.36C>T (p.Phe12=) rs750233571 0.00002
NM_020533.3(MCOLN1):c.1237-12G>A rs763017059 0.00002
NM_020533.3(MCOLN1):c.815C>G (p.Pro272Arg) rs183077397 0.00002
NM_020661.4(AICDA):c.376C>T (p.Leu126=) rs999930122 0.00002
NM_020975.6(RET):c.1920C>T (p.Ala640=) rs149768519 0.00002
NM_021625.5(TRPV4):c.651G>A (p.Ala217=) rs371280831 0.00002
NM_022041.4(GAN):c.1518C>T (p.Asn506=) rs886052333 0.00002
NM_022051.3(EGLN1):c.522C>T (p.Ser174=) rs767045832 0.00002
NM_022124.6(CDH23):c.1062C>T (p.Ser354=) rs775091135 0.00002
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile) rs397517307 0.00002
NM_022124.6(CDH23):c.321C>G (p.Val107=) rs761122371 0.00002
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu) rs554938323 0.00002
NM_022356.4(P3H1):c.1620C>T (p.Asn540=) rs140334418 0.00002
NM_022356.4(P3H1):c.1944C>T (p.Ala648=) rs760909376 0.00002
NM_022436.3(ABCG5):c.511G>A (p.Val171Ile) rs777411661 0.00002
NM_022436.3(ABCG5):c.804C>T (p.Phe268=) rs554183818 0.00002
NM_024105.4(ALG12):c.163-4G>A rs776043296 0.00002
NM_024105.4(ALG12):c.57C>T (p.Ala19=) rs763942380 0.00002
NM_024312.5(GNPTAB):c.513A>G (p.Ala171=) rs371813268 0.00002
NM_024422.6(DSC2):c.1401G>A (p.Glu467=) rs977781359 0.00002
NM_024513.4(FYCO1):c.3825G>A (p.Pro1275=) rs748985200 0.00002
NM_024570.4(RNASEH2B):c.360C>T (p.Asn120=) rs759273327 0.00002
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) rs749494645 0.00002
NM_024675.4(PALB2):c.1955G>A (p.Ser652Asn) rs587781818 0.00002
NM_024757.5(EHMT1):c.183C>T (p.Ser61=) rs774448433 0.00002
NM_025000.4(DCAF17):c.230+15A>G rs778241115 0.00002
NM_025137.4(SPG11):c.1182G>A (p.Gly394=) rs199968487 0.00002
NM_025137.4(SPG11):c.176C>T (p.Ala59Val) rs552320263 0.00002
NM_025137.4(SPG11):c.3146-6T>G rs777849932 0.00002
NM_025137.4(SPG11):c.5040G>T (p.Leu1680=) rs748057725 0.00002
NM_025137.4(SPG11):c.5407C>T (p.Leu1803=) rs200102584 0.00002
NM_025215.6(PUS1):c.216T>C (p.Gly72=) rs766451588 0.00002
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=) rs772254851 0.00002
NM_031433.4(MFRP):c.303C>T (p.Ser101=) rs530322096 0.00002
NM_031885.5(BBS2):c.1910+9T>G rs751604858 0.00002
NM_031885.5(BBS2):c.2088T>C (p.Thr696=) rs886052144 0.00002
NM_032409.3(PINK1):c.414G>A (p.Pro138=) rs773637957 0.00002
NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys) rs370401336 0.00002
NM_053013.4(ENO3):c.555C>T (p.Gly185=) rs757606682 0.00002
NM_053025.4(MYLK):c.1023T>G (p.Thr341=) rs201619646 0.00002
NM_053025.4(MYLK):c.1359C>T (p.Pro453=) rs200973568 0.00002
NM_058246.4(DNAJB6):c.885C>G (p.Leu295=) rs758663546 0.00002
NM_080680.3(COL11A2):c.2848C>T (p.Pro950Ser) rs768902062 0.00002
NM_133259.4(LRPPRC):c.96C>T (p.Gly32=) rs886056064 0.00002
NM_133642.5(LARGE1):c.1320C>T (p.Asp440=) rs772615481 0.00002
NM_138387.4(G6PC3):c.201C>T (p.Leu67=) rs375273894 0.00002
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=) rs375603741 0.00002
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln) rs201753421 0.00002
NM_138694.4(PKHD1):c.5301T>C (p.Ala1767=) rs886061618 0.00002
NM_138694.4(PKHD1):c.8503G>A (p.Gly2835Arg) rs771108371 0.00002
NM_138711.6(PPARG):c.393T>C (p.Gly131=) rs201126401 0.00002
NM_144687.4(NLRP12):c.2574A>G (p.Leu858=) rs750552324 0.00002
NM_152263.4(TPM3):c.378-13C>T rs367548433 0.00002
NM_152383.5(DIS3L2):c.2207C>T (p.Ala736Val) rs780625125 0.00002
NM_152383.5(DIS3L2):c.519C>T (p.Ser173=) rs143680532 0.00002
NM_152564.5(VPS13B):c.2583C>T (p.Cys861=) rs199868590 0.00002
NM_152564.5(VPS13B):c.3813A>G (p.Thr1271=) rs775071483 0.00002
NM_152564.5(VPS13B):c.3865A>G (p.Thr1289Ala) rs752808333 0.00002
NM_152564.5(VPS13B):c.9831G>A (p.Pro3277=) rs775601813 0.00002
NM_170707.4(LMNA):c.1698+57G>A rs557334569 0.00002
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363 0.00002
NM_174936.4(PCSK9):c.10G>A (p.Val4Ile) rs186669805 0.00002
NM_174936.4(PCSK9):c.1733T>A (p.Val578Glu) rs765583923 0.00002
NM_174936.4(PCSK9):c.2022C>T (p.Ala674=) rs886046436 0.00002
NM_177438.3(DICER1):c.406G>C (p.Glu136Gln) rs768445477 0.00002
NM_177438.3(DICER1):c.5516G>A (p.Arg1839Gln) rs587778233 0.00002
NM_182760.4(SUMF1):c.1014+12C>T rs776947608 0.00002
NM_182914.3(SYNE2):c.12942G>A (p.Ala4314=) rs762957203 0.00002
NM_182914.3(SYNE2):c.17691A>G (p.Gln5897=) rs971473774 0.00002
NM_182914.3(SYNE2):c.18660C>T (p.His6220=) rs757875136 0.00002
NM_182914.3(SYNE2):c.8991G>A (p.Gln2997=) rs773209564 0.00002
NM_183050.4(BCKDHB):c.732C>T (p.Tyr244=) rs537988425 0.00002
NM_198578.4(LRRK2):c.2070+9T>A rs201389324 0.00002
NM_198578.4(LRRK2):c.6582T>C (p.Val2194=) rs773085638 0.00002
NM_198578.4(LRRK2):c.839-4T>G rs748213808 0.00002
NM_198904.4(GABRG2):c.759G>A (p.Lys253=) rs202124575 0.00002
NM_199242.3(UNC13D):c.1890G>A (p.Ala630=) rs753021453 0.00002
NM_206933.4(USH2A):c.1789C>A (p.His597Asn) rs201127450 0.00002
NM_206937.2(LIG4):c.1252T>C (p.Leu418=) rs147181971 0.00002
NM_206937.2(LIG4):c.1971T>C (p.Asn657=) rs764483419 0.00002
NM_000017.4(ACADS):c.473-9T>G rs751507296 0.00001
NM_000018.4(ACADVL):c.201G>A (p.Lys67=) rs753577095 0.00001
NM_000018.4(ACADVL):c.216C>T (p.Ser72=) rs761492981 0.00001
NM_000018.4(ACADVL):c.51C>T (p.Leu17=) rs376733533 0.00001
NM_000018.4(ACADVL):c.867G>T (p.Gly289=) rs745557512 0.00001
NM_000018.4(ACADVL):c.969G>A (p.Leu323=) rs749734276 0.00001
NM_000019.4(ACAT1):c.1191T>C (p.His397=) rs1439617035 0.00001
NM_000019.4(ACAT1):c.378T>C (p.Cys126=) rs536301499 0.00001
NM_000019.4(ACAT1):c.532T>C (p.Leu178=) rs370063325 0.00001
NM_000022.4(ADA):c.672A>G (p.Val224=) rs753855163 0.00001
NM_000022.4(ADA):c.679-8C>T rs886056707 0.00001
NM_000022.4(ADA):c.941A>G (p.Asp314Gly) rs547569818 0.00001
NM_000026.4(ADSL):c.579G>C (p.Leu193=) rs751928831 0.00001
NM_000027.4(AGA):c.657T>C (p.Ala219=) rs886059261 0.00001
NM_000035.4(ALDOB):c.243C>T (p.His81=) rs182003715 0.00001
NM_000035.4(ALDOB):c.270G>A (p.Gln90=) rs1176960115 0.00001
NM_000035.4(ALDOB):c.309C>T (p.Ile103=) rs747019279 0.00001
NM_000037.4(ANK1):c.237C>T (p.Asn79=) rs372696694 0.00001
NM_000037.4(ANK1):c.711+13C>T rs763737257 0.00001
NM_000038.6(APC):c.1722A>G (p.Glu574=) rs786201277 0.00001
NM_000038.6(APC):c.2958T>C (p.Tyr986=) rs746581330 0.00001
NM_000038.6(APC):c.3653C>T (p.Thr1218Met) rs377640390 0.00001
NM_000038.6(APC):c.5712A>G (p.Gln1904=) rs755851369 0.00001
NM_000038.6(APC):c.5952T>C (p.Asn1984=) rs142019870 0.00001
NM_000038.6(APC):c.6492C>T (p.Gly2164=) rs765332758 0.00001
NM_000038.6(APC):c.6624A>G (p.Glu2208=) rs886059798 0.00001
NM_000038.6(APC):c.8100T>C (p.Asn2700=) rs761326128 0.00001
NM_000045.4(ARG1):c.305+7T>C rs886061060 0.00001
NM_000046.5(ARSB):c.1224C>T (p.Asn408=) rs762454192 0.00001
NM_000048.4(ASL):c.1026G>C (p.Val342=) rs768461888 0.00001
NM_000048.4(ASL):c.1230G>C (p.Leu410=) rs1397223617 0.00001
NM_000048.4(ASL):c.474C>T (p.Tyr158=) rs1361999742 0.00001
NM_000048.4(ASL):c.720C>T (p.Ala240=) rs764072757 0.00001
NM_000049.4(ASPA):c.807G>A (p.Thr269=) rs759106494 0.00001
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys) rs587780614 0.00001
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys) rs201780199 0.00001
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys) rs183263185 0.00001
NM_000051.4(ATM):c.3982T>C (p.Leu1328=) rs876658204 0.00001
NM_000051.4(ATM):c.411C>T (p.Tyr137=) rs756160533 0.00001
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg) rs527471560 0.00001
NM_000051.4(ATM):c.4436+10A>G rs878853509 0.00001
NM_000051.4(ATM):c.4977A>T (p.Ile1659=) rs199888434 0.00001
NM_000051.4(ATM):c.6318T>C (p.Asn2106=) rs864622730 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000051.4(ATM):c.7542T>C (p.Tyr2514=) rs777925486 0.00001
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=) rs533967323 0.00001
NM_000053.4(ATP7B):c.3114G>A (p.Arg1038=) rs761888880 0.00001
NM_000053.4(ATP7B):c.3151C>T (p.Leu1051=) rs534622837 0.00001
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=) rs587783314 0.00001
NM_000053.4(ATP7B):c.3625C>T (p.Leu1209=) rs61957448 0.00001
NM_000053.4(ATP7B):c.363C>T (p.Phe121=) rs370199412 0.00001
NM_000053.4(ATP7B):c.51+13C>T rs770273498 0.00001
NM_000053.4(ATP7B):c.609C>T (p.Asp203=) rs781140058 0.00001
NM_000057.4(BLM):c.1785A>T (p.Ser595=) rs79871543 0.00001
NM_000057.4(BLM):c.2211G>C (p.Leu737=) rs933356579 0.00001
NM_000057.4(BLM):c.2490G>A (p.Thr830=) rs765233032 0.00001
NM_000057.4(BLM):c.3933C>T (p.Ala1311=) rs756451802 0.00001
NM_000057.4(BLM):c.696C>A (p.Ser232Arg) rs201845548 0.00001
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln) rs371454630 0.00001
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215 0.00001
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn) rs80358694 0.00001
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys) rs41293503 0.00001
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg) rs80358904 0.00001
NM_000059.4(BRCA2):c.7104G>A (p.Leu2368=) rs764698623 0.00001
NM_000059.4(BRCA2):c.847A>G (p.Ile283Val) rs80359097 0.00001
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro) rs80359155 0.00001
NM_000059.4(BRCA2):c.909T>G (p.Ser303=) rs757430441 0.00001
NM_000059.4(BRCA2):c.963A>G (p.Gln321=) rs276174927 0.00001
NM_000061.3(BTK):c.852A>G (p.Lys284=) rs1057515724 0.00001
NM_000070.3(CAPN3):c.1947G>A (p.Glu649=) rs79440238 0.00001
NM_000070.3(CAPN3):c.2051-8C>T rs754375124 0.00001
NM_000071.3(CBS):c.1065G>A (p.Ala355=) rs748552493 0.00001
NM_000079.4(CHRNA1):c.1332C>T (p.Ala444=) rs771587252 0.00001
NM_000079.4(CHRNA1):c.711C>T (p.Asn237=) rs137852798 0.00001
NM_000081.4(LYST):c.2724C>T (p.Cys908=) rs201440611 0.00001
NM_000090.4(COL3A1):c.183C>T (p.Leu61=) rs753474870 0.00001
NM_000090.4(COL3A1):c.267A>G (p.Pro89=) rs998965783 0.00001
NM_000096.4(CP):c.1380C>T (p.Thr460=) rs149790356 0.00001
NM_000096.4(CP):c.2697T>C (p.Val899=) rs17847022 0.00001
NM_000098.3(CPT2):c.1476C>T (p.Ala492=) rs548364005 0.00001
NM_000103.4(CYP19A1):c.501C>A (p.Ser167=) rs35900050 0.00001
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715 0.00001
NM_000126.4(ETFA):c.78T>C (p.Ala26=) rs773298687 0.00001
NM_000127.3(EXT1):c.1266T>A (p.Ile422=) rs899395870 0.00001
NM_000130.5(F5):c.1545C>T (p.Ile515=) rs886045551 0.00001
NM_000130.5(F5):c.3255A>C (p.Thr1085=) rs6006 0.00001
NM_000130.5(F5):c.3810C>G (p.Ala1270=) rs781657137 0.00001
NM_000130.5(F5):c.5001G>A (p.Pro1667=) rs747456938 0.00001
NM_000130.5(F5):c.5788+4A>T rs759428783 0.00001
NM_000130.5(F5):c.6360G>A (p.Lys2120=) rs757104503 0.00001
NM_000133.4(F9):c.60A>G (p.Leu20=) rs762082146 0.00001
NM_000135.4(FANCA):c.1007-7C>G rs111271660 0.00001
NM_000135.4(FANCA):c.1632C>A (p.His544Gln) rs553129361 0.00001
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) rs529199293 0.00001
NM_000135.4(FANCA):c.1990A>G (p.Met664Val) rs748579719 0.00001
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser) rs772828870 0.00001
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=) rs765106818 0.00001
NM_000135.4(FANCA):c.3626+7G>A rs933657325 0.00001
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys) rs745665658 0.00001
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=) rs768380959 0.00001
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136 0.00001
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys) rs886052487 0.00001
NM_000136.3(FANCC):c.1281C>T (p.Ala427=) rs754604606 0.00001
NM_000137.4(FAH):c.1180+10G>A rs758464032 0.00001
NM_000137.4(FAH):c.296A>G (p.Asp99Gly) rs547847694 0.00001
NM_000138.5(FBN1):c.2979C>T (p.Cys993=) rs150126098 0.00001
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640 0.00001
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile) rs568625812 0.00001
NM_000141.5(FGFR2):c.1239G>A (p.Pro413=) rs147674677 0.00001
NM_000147.5(FUCA1):c.30G>C (p.Pro10=) rs886046326 0.00001
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=) rs779263877 0.00001
NM_000151.4(G6PC1):c.231-12G>A rs373908549 0.00001
NM_000151.4(G6PC1):c.879A>G (p.Pro293=) rs529957748 0.00001
NM_000152.5(GAA):c.36C>T (p.Leu12=) rs200548806 0.00001
NM_000152.5(GAA):c.630C>T (p.Ser210=) rs775568949 0.00001
NM_000153.4(GALC):c.1443A>G (p.Pro481=) rs1359281521 0.00001
NM_000153.4(GALC):c.2001A>C (p.Gly667=) rs769902280 0.00001
NM_000153.4(GALC):c.450A>T (p.Pro150=) rs886050866 0.00001
NM_000153.4(GALC):c.81C>T (p.Ala27=) rs759433028 0.00001
NM_000154.2(GALK1):c.786G>A (p.Glu262=) rs756263074 0.00001
NM_000155.4(GALT):c.378-7C>T rs751084584 0.00001
NM_000155.4(GALT):c.843G>A (p.Lys281=) rs368298966 0.00001
NM_000158.4(GBE1):c.1581G>A (p.Thr527=) rs140571802 0.00001
NM_000158.4(GBE1):c.692-6A>G rs757655010 0.00001
NM_000170.3(GLDC):c.1402-14T>G rs376719104 0.00001
NM_000170.3(GLDC):c.1665+7A>T rs759573888 0.00001
NM_000170.3(GLDC):c.1830G>A (p.Gln610=) rs765268971 0.00001
NM_000170.3(GLDC):c.2145C>T (p.Asp715=) rs769158507 0.00001
NM_000170.3(GLDC):c.2742A>T (p.Ala914=) rs374022098 0.00001
NM_000170.3(GLDC):c.2925C>T (p.Phe975=) rs1052505781 0.00001
NM_000170.3(GLDC):c.96G>T (p.Pro32=) rs1430526811 0.00001
NM_000179.3(MSH6):c.1170T>C (p.Asp390=) rs55882234 0.00001
NM_000181.4(GUSB):c.1050G>A (p.Lys350=) rs121918182 0.00001
NM_000181.4(GUSB):c.1245-4G>A rs548368848 0.00001
NM_000181.4(GUSB):c.210+11G>C rs886062403 0.00001
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser) rs561880652 0.00001
NM_000186.4(CFH):c.2784C>A (p.Gly928=) rs755926856 0.00001
NM_000187.4(HGD):c.307C>A (p.Pro103Thr) rs559502955 0.00001
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=) rs200189529 0.00001
NM_000199.5(SGSH):c.681C>A (p.Pro227=) rs2041774244 0.00001
NM_000199.5(SGSH):c.798A>G (p.Thr266=) rs199562202 0.00001
NM_000199.5(SGSH):c.88+8C>T rs75720127 0.00001
NM_000199.5(SGSH):c.942C>T (p.Ser314=) rs759810426 0.00001
NM_000203.5(IDUA):c.249C>T (p.Arg83=) rs765563471 0.00001
NM_000211.5(ITGB2):c.1688G>A (p.Arg563His) rs550704811 0.00001
NM_000211.5(ITGB2):c.2247+10C>T rs147248229 0.00001
NM_000211.5(ITGB2):c.328+14C>T rs780089604 0.00001
NM_000211.5(ITGB2):c.432G>A (p.Arg144=) rs886057119 0.00001
NM_000212.3(ITGB3):c.201G>A (p.Lys67=) rs780479441 0.00001
NM_000214.3(JAG1):c.2817C>T (p.Ser939=) rs1180418350 0.00001
NM_000214.3(JAG1):c.3297G>A (p.Pro1099=) rs748849177 0.00001
NM_000214.3(JAG1):c.74G>A (p.Arg25Gln) rs1265642949 0.00001
NM_000217.3(KCNA1):c.1086T>C (p.Ala362=) rs1264032724 0.00001
NM_000222.3(KIT):c.2118T>G (p.Leu706=) rs766840704 0.00001
NM_000222.3(KIT):c.2562C>G (p.Ser854=) rs750039813 0.00001
NM_000222.3(KIT):c.2670C>T (p.Leu890=) rs745967881 0.00001
NM_000235.4(LIPA):c.1026G>A (p.Gly342=) rs550415126 0.00001
NM_000235.4(LIPA):c.318C>T (p.Phe106=) rs1438679981 0.00001
NM_000243.3(MEFV):c.651G>C (p.Ala217=) rs886051971 0.00001
NM_000243.3(MEFV):c.66G>A (p.Glu22=) rs569040282 0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) rs104895080 0.00001
NM_000243.3(MEFV):c.801A>G (p.Thr267=) rs141455838 0.00001
NM_000246.4(CIITA):c.1635C>G (p.Leu545=) rs748330320 0.00001
NM_000246.4(CIITA):c.2139G>A (p.Leu713=) rs1319022837 0.00001
NM_000246.4(CIITA):c.2709G>A (p.Gly903=) rs755515727 0.00001
NM_000246.4(CIITA):c.3149+11C>T rs371453398 0.00001
NM_000249.4(MLH1):c.1541A>G (p.Asn514Ser) rs772245091 0.00001
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val) rs748797209 0.00001
NM_000251.3(MSH2):c.972G>A (p.Gln324=) rs63750505 0.00001
NM_000254.3(MTR):c.181A>C (p.Arg61=) rs886046217 0.00001
NM_000254.3(MTR):c.34+10C>T rs376679817 0.00001
NM_000257.4(MYH7):c.1749C>T (p.Ala583=) rs758665829 0.00001
NM_000257.4(MYH7):c.2692C>T (p.Leu898=) rs727504407 0.00001
NM_000257.4(MYH7):c.3934C>T (p.Leu1312=) rs886050419 0.00001
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=) rs782531164 0.00001
NM_000260.4(MYO7A):c.759C>T (p.His253=) rs182220009 0.00001
NM_000262.3(NAGA):c.12G>A (p.Lys4=) rs776865602 0.00001
NM_000262.3(NAGA):c.549C>T (p.Ile183=) rs374984089 0.00001
NM_000264.5(PTCH1):c.1653G>A (p.Thr551=) rs766039170 0.00001
NM_000264.5(PTCH1):c.1712G>A (p.Arg571Gln) rs377566861 0.00001
NM_000264.5(PTCH1):c.2176C>T (p.Pro726Ser) rs758811078 0.00001
NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=) rs766227557 0.00001
NM_000264.5(PTCH1):c.777C>T (p.Phe259=) rs750313305 0.00001
NM_000268.4(NF2):c.903C>T (p.Ile301=) rs199957176 0.00001
NM_000271.5(NPC1):c.2304C>T (p.Val768=) rs183935795 0.00001
NM_000271.5(NPC1):c.2373+14A>G rs771523995 0.00001
NM_000271.5(NPC1):c.2514+7G>A rs764548800 0.00001
NM_000271.5(NPC1):c.3312G>A (p.Val1104=) rs746476066 0.00001
NM_000271.5(NPC1):c.699G>A (p.Glu233=) rs769468514 0.00001
NM_000274.4(OAT):c.639C>T (p.Pro213=) rs773314783 0.00001
NM_000277.3(PAH):c.786C>T (p.Val262=) rs776860902 0.00001
NM_000282.4(PCCA):c.432A>G (p.Gly144=) rs768756825 0.00001
NM_000282.4(PCCA):c.762C>T (p.Gly254=) rs758211858 0.00001
NM_000288.4(PEX7):c.748-10T>C rs886061122 0.00001
NM_000288.4(PEX7):c.843A>G (p.Thr281=) rs767903764 0.00001
NM_000289.6(PFKM):c.1242C>G (p.Gly414=) rs886049454 0.00001
NM_000289.6(PFKM):c.864A>G (p.Gly288=) rs1313998695 0.00001
NM_000293.3(PHKB):c.1797+9G>A rs746001808 0.00001
NM_000293.3(PHKB):c.2106C>T (p.Thr702=) rs1248967430 0.00001
NM_000293.3(PHKB):c.2186A>C (p.Gln729Pro) rs573384357 0.00001
NM_000293.3(PHKB):c.2196+14A>G rs751084282 0.00001
NM_000294.3(PHKG2):c.95+11G>A rs886051910 0.00001
NM_000295.5(SERPINA1):c.1104G>A (p.Gly368=) rs1378794678 0.00001
NM_000295.5(SERPINA1):c.587T>C (p.Leu196Ser) rs368433503 0.00001
NM_000302.4(PLOD1):c.1581C>T (p.Pro527=) rs142934642 0.00001
NM_000302.4(PLOD1):c.2160C>T (p.Ile720=) rs140513387 0.00001
NM_000302.4(PLOD1):c.742-9C>G rs771746998 0.00001
NM_000302.4(PLOD1):c.948A>G (p.Lys316=) rs746354303 0.00001
NM_000303.3(PMM2):c.126A>G (p.Gly42=) rs766984518 0.00001
NM_000312.4(PROC):c.1326C>T (p.Leu442=) rs748650244 0.00001
NM_000312.4(PROC):c.660G>A (p.Arg220=) rs1688487502 0.00001
NM_000312.4(PROC):c.70+13C>G rs200660332 0.00001
NM_000318.3(PEX2):c.524C>G (p.Ser175Cys) rs770427885 0.00001
NM_000320.3(QDPR):c.147C>T (p.Ser49=) rs758659025 0.00001
NM_000320.3(QDPR):c.444C>T (p.Ile148=) rs754982401 0.00001
NM_000321.3(RB1):c.1667G>A (p.Arg556Gln) rs773116120 0.00001
NM_000321.3(RB1):c.1696-4A>G rs143685082 0.00001
NM_000321.3(RB1):c.2091C>G (p.Asp697Glu) rs3092903 0.00001
NM_000321.3(RB1):c.2289A>T (p.Arg763Ser) rs1167280920 0.00001
NM_000334.4(SCN4A):c.1575C>T (p.Ser525=) rs376538198 0.00001
NM_000334.4(SCN4A):c.219G>A (p.Pro73=) rs779890709 0.00001
NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=) rs769625349 0.00001
NM_000334.4(SCN4A):c.5148G>A (p.Glu1716=) rs1244264430 0.00001
NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=) rs761023866 0.00001
NM_000334.4(SCN4A):c.858G>A (p.Pro286=) rs560230431 0.00001
NM_000335.5(SCN5A):c.2988C>T (p.Ala996=) rs781529391 0.00001
NM_000335.5(SCN5A):c.687T>C (p.Thr229=) rs770390440 0.00001
NM_000341.4(SLC3A1):c.1269C>T (p.Ser423=) rs557669708 0.00001
NM_000343.4(SLC5A1):c.1314C>T (p.Ile438=) rs1229387697 0.00001
NM_000343.4(SLC5A1):c.1716C>T (p.Asp572=) rs1475148938 0.00001
NM_000343.4(SLC5A1):c.208-13T>A rs200261297 0.00001
NM_000350.3(ABCA4):c.1099+12G>T rs756258615 0.00001
NM_000350.3(ABCA4):c.1821G>A (p.Gly607=) rs201059645 0.00001
NM_000350.3(ABCA4):c.3096A>G (p.Gly1032=) rs778400379 0.00001
NM_000350.3(ABCA4):c.3576C>T (p.Val1192=) rs187965758 0.00001
NM_000350.3(ABCA4):c.4329C>T (p.Arg1443=) rs374344839 0.00001
NM_000350.3(ABCA4):c.4518C>T (p.Ala1506=) rs146011912 0.00001
NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=) rs774957381 0.00001
NM_000350.3(ABCA4):c.4593C>T (p.Ser1531=) rs746070443 0.00001
NM_000350.3(ABCA4):c.5593C>T (p.His1865Tyr) rs201707267 0.00001
NM_000353.3(TAT):c.1042-12C>T rs748571289 0.00001
NM_000353.3(TAT):c.1146T>C (p.His382=) rs141534499 0.00001
NM_000353.3(TAT):c.1290G>A (p.Ala430=) rs767563000 0.00001
NM_000355.4(TCN2):c.459C>T (p.Ser153=) rs201344377 0.00001
NM_000360.4(TH):c.393C>T (p.Phe131=) rs1239693053 0.00001
NM_000360.4(TH):c.648C>T (p.Gly216=) rs774810612 0.00001
NM_000360.4(TH):c.675C>T (p.Thr225=) rs1437906953 0.00001
NM_000360.4(TH):c.841+12C>T rs368489295 0.00001
NM_000368.5(TSC1):c.168G>A (p.Pro56=) rs781483110 0.00001
NM_000368.5(TSC1):c.1745C>T (p.Thr582Ile) rs886063623 0.00001
NM_000368.5(TSC1):c.1882T>C (p.Leu628=) rs375534013 0.00001
NM_000368.5(TSC1):c.2556G>C (p.Leu852=) rs770381040 0.00001
NM_000368.5(TSC1):c.2994C>T (p.Asp998=) rs923543734 0.00001
NM_000368.5(TSC1):c.598G>A (p.Val200Ile) rs118203410 0.00001
NM_000368.5(TSC1):c.738-10C>A rs768158324 0.00001
NM_000368.5(TSC1):c.819T>G (p.Asp273Glu) rs148756522 0.00001
NM_000414.4(HSD17B4):c.1596T>C (p.His532=) rs758045328 0.00001
NM_000417.3(IL2RA):c.252C>T (p.Ser84=) rs1034684102 0.00001
NM_000419.5(ITGA2B):c.1389C>T (p.Tyr463=) rs148618973 0.00001
NM_000426.4(LAMA2):c.4749C>T (p.Leu1583=) rs754850670 0.00001
NM_000432.4(MYL2):c.275-12G>A rs750937792 0.00001
NM_000436.4(OXCT1):c.956-15A>G rs886060636 0.00001
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=) rs727504993 0.00001
NM_000441.2(SLC26A4):c.678T>C (p.Ala226=) rs773602319 0.00001
NM_000455.5(STK11):c.846C>G (p.Leu282=) rs777872290 0.00001
NM_000465.4(BARD1):c.123C>A (p.Leu41=) rs764410072 0.00001
NM_000465.4(BARD1):c.735A>G (p.Gln245=) rs763378916 0.00001
NM_000466.3(PEX1):c.1671-13A>G rs757960956 0.00001
NM_000466.3(PEX1):c.2927-8T>C rs778618662 0.00001
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=) rs768417678 0.00001
NM_000466.3(PEX1):c.3543A>G (p.Ser1181=) rs374673391 0.00001
NM_000466.3(PEX1):c.3642C>T (p.Asp1214=) rs777384403 0.00001
NM_000481.4(AMT):c.153G>A (p.Ala51=) rs768510463 0.00001
NM_000481.4(AMT):c.750C>T (p.Asn250=) rs141324034 0.00001
NM_000481.4(AMT):c.84C>T (p.Cys28=) rs763223038 0.00001
NM_000484.4(APP):c.1224+12T>C rs200725014 0.00001
NM_000484.4(APP):c.618G>A (p.Ser206=) rs201022619 0.00001
NM_000487.6(ARSA):c.1211-15T>C rs374150980 0.00001
NM_000487.6(ARSA):c.663C>T (p.Phe221=) rs754484249 0.00001
NM_000488.4(SERPINC1):c.408+4C>T rs201551398 0.00001
NM_000492.4(CFTR):c.164+12T>C rs121908790 0.00001
NM_000492.4(CFTR):c.2835G>A (p.Ser945=) rs193922513 0.00001
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=) rs117400534 0.00001
NM_000492.4(CFTR):c.3969G>A (p.Gly1323=) rs886061952 0.00001
NM_000501.4(ELN):c.1281C>T (p.Pro427=) rs376496267 0.00001
NM_000501.4(ELN):c.163+13A>G rs782388951 0.00001
NM_000512.5(GALNS):c.1003-10T>C rs753249472 0.00001
NM_000512.5(GALNS):c.1008C>T (p.Ser336=) rs886052456 0.00001
NM_000512.5(GALNS):c.993T>C (p.Thr331=) rs762154863 0.00001
NM_000518.5(HBB):c.274C>T (p.Leu92=) rs769583496 0.00001
NM_000521.4(HEXB):c.156G>A (p.Pro52=) rs758965664 0.00001
NM_000525.4(KCNJ11):c.819C>T (p.Ser273=) rs202238153 0.00001
NM_000527.5(LDLR):c.2391G>C (p.Val797=) rs752846235 0.00001
NM_000527.5(LDLR):c.543G>A (p.Pro181=) rs766577671 0.00001
NM_000528.4(MAN2B1):c.1026+8C>T rs199908179 0.00001
NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=) rs747081586 0.00001
NM_000528.4(MAN2B1):c.2437-5C>G rs200695002 0.00001
NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=) rs775212002 0.00001
NM_000528.4(MAN2B1):c.3006C>A (p.Ala1002=) rs2023694204 0.00001
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=) rs200872797 0.00001
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=) rs139218045 0.00001
NM_000531.6(OTC):c.896C>T (p.Thr299Ile) rs756772340 0.00001
NM_000532.5(PCCB):c.1199-8A>G rs886058019 0.00001
NM_000532.5(PCCB):c.654+14G>T rs1457950469 0.00001
NM_000536.4(RAG2):c.63G>A (p.Leu21=) rs142797325 0.00001
NM_000538.4(RFXAP):c.15T>C (p.Gly5=) rs772887500 0.00001
NM_000540.3(RYR1):c.10441-8T>C rs755330618 0.00001
NM_000540.3(RYR1):c.11706A>G (p.Leu3902=) rs776123178 0.00001
NM_000540.3(RYR1):c.1218C>T (p.Thr406=) rs3745846 0.00001
NM_000540.3(RYR1):c.14129+10C>A rs546280470 0.00001
NM_000540.3(RYR1):c.14706C>T (p.Ile4902=) rs886054411 0.00001
NM_000540.3(RYR1):c.199G>A (p.Val67Ile) rs761182247 0.00001
NM_000540.3(RYR1):c.255G>T (p.Val85=) rs532101469 0.00001
NM_000540.3(RYR1):c.2646G>A (p.Ala882=) rs375163703 0.00001
NM_000540.3(RYR1):c.2682+13C>T rs745844424 0.00001
NM_000540.3(RYR1):c.2823G>A (p.Ala941=) rs750305530 0.00001
NM_000540.3(RYR1):c.3981C>G (p.Pro1327=) rs763082630 0.00001
NM_000540.3(RYR1):c.4056G>A (p.Ala1352=) rs915321867 0.00001
NM_000540.3(RYR1):c.4488C>T (p.Gly1496=) rs886038331 0.00001
NM_000540.3(RYR1):c.4533G>A (p.Thr1511=) rs147901772 0.00001
NM_000540.3(RYR1):c.4650C>T (p.Ala1550=) rs200600174 0.00001
NM_000540.3(RYR1):c.5548-9G>T rs776320867 0.00001
NM_000540.3(RYR1):c.6407G>A (p.Arg2136His) rs530885842 0.00001
NM_000540.3(RYR1):c.6549-8G>A rs756593088 0.00001
NM_000540.3(RYR1):c.7422G>A (p.Leu2474=) rs758872814 0.00001
NM_000540.3(RYR1):c.7842C>T (p.Ile2614=) rs777420696 0.00001
NM_000540.3(RYR1):c.7857G>A (p.Leu2619=) rs547048377 0.00001
NM_000540.3(RYR1):c.8082G>A (p.Glu2694=) rs745619519 0.00001
NM_000540.3(RYR1):c.9001-8G>A rs768611849 0.00001
NM_000540.3(RYR1):c.9096T>A (p.Ser3032=) rs144067910 0.00001
NM_000540.3(RYR1):c.9685+8G>T rs752615788 0.00001
NM_000540.3(RYR1):c.9732G>A (p.Pro3244=) rs764290955 0.00001
NM_000546.6(TP53):c.145G>A (p.Asp49Asn) rs587780728 0.00001
NM_000546.6(TP53):c.74+9A>C rs1057517593 0.00001
NM_000546.6(TP53):c.96+15T>C rs200053580 0.00001
NM_000553.6(WRN):c.2088+6C>T rs886062888 0.00001
NM_000553.6(WRN):c.219A>G (p.Leu73=) rs566693857 0.00001
NM_000553.6(WRN):c.2985C>T (p.Ala995=) rs150095039 0.00001
NM_000553.6(WRN):c.3162T>C (p.Ala1054=) rs111426441 0.00001
NM_000553.6(WRN):c.3483A>T (p.Val1161=) rs1292940121 0.00001
NM_000639.3(FASLG):c.452-12G>A rs759351686 0.00001
NM_000642.3(AGL):c.1284-12A>C rs886044918 0.00001
NM_000642.3(AGL):c.318C>T (p.Tyr106=) rs376885398 0.00001
NM_000642.3(AGL):c.4362T>C (p.Pro1454=) rs886044922 0.00001
NM_000642.3(AGL):c.958+12A>G rs1227779911 0.00001
NM_000687.4(AHCY):c.219+8C>T rs768480898 0.00001
NM_000687.4(AHCY):c.936C>T (p.Asn312=) rs528770765 0.00001
NM_000709.4(BCKDHA):c.435C>T (p.Ala145=) rs369278165 0.00001
NM_000751.3(CHRND):c.932+9C>T rs367837942 0.00001
NM_000781.3(CYP11A1):c.567G>A (p.Ala189=) rs770022852 0.00001
NM_000787.4(DBH):c.921+8C>T rs886063659 0.00001
NM_000824.5(GLRB):c.210G>A (p.Arg70=) rs1440659826 0.00001
NM_000891.3(KCNJ2):c.303T>C (p.Cys101=) rs376921497 0.00001
NM_000925.4(PDHB):c.1069T>C (p.Leu357=) rs768436316 0.00001
NM_000925.4(PDHB):c.45C>G (p.Val15=) rs747916943 0.00001
NM_001005242.3(PKP2):c.1236G>A (p.Gln412=) rs779749104 0.00001
NM_001005242.3(PKP2):c.837C>T (p.Pro279=) rs572938229 0.00001
NM_001005242.3(PKP2):c.921T>C (p.Ser307=) rs941328238 0.00001
NM_001005361.3(DNM2):c.1782-6C>T rs963604980 0.00001
NM_001005373.4(LRSAM1):c.972G>A (p.Leu324=) rs940085400 0.00001
NM_001008216.2(GALE):c.192G>A (p.Glu64=) rs748354696 0.00001
NM_001008216.2(GALE):c.238-6C>T rs751079525 0.00001
NM_001008216.2(GALE):c.648G>A (p.Ala216=) rs144723215 0.00001
NM_001032386.2(SUOX):c.279C>T (p.His93=) rs763253683 0.00001
NM_001032386.2(SUOX):c.507C>T (p.Thr169=) rs765012855 0.00001
NM_001035.3(RYR2):c.10008G>A (p.Glu3336=) rs753175584 0.00001
NM_001035.3(RYR2):c.10200T>C (p.Ala3400=) rs779316628 0.00001
NM_001035.3(RYR2):c.10551C>A (p.Gly3517=) rs768797598 0.00001
NM_001035.3(RYR2):c.11146-6G>A rs886046277 0.00001
NM_001035.3(RYR2):c.12315C>T (p.Leu4105=) rs184625125 0.00001
NM_001035.3(RYR2):c.12627G>A (p.Ser4209=) rs3753631 0.00001
NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn) rs755585430 0.00001
NM_001035.3(RYR2):c.13410C>T (p.Tyr4470=) rs183933829 0.00001
NM_001035.3(RYR2):c.13482T>C (p.Tyr4494=) rs886046279 0.00001
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=) rs375213838 0.00001
NM_001035.3(RYR2):c.14085A>C (p.Ser4695=) rs758566439 0.00001
NM_001035.3(RYR2):c.1444C>T (p.Leu482=) rs117903753 0.00001
NM_001035.3(RYR2):c.14808+12A>C rs886046281 0.00001
NM_001035.3(RYR2):c.2175T>C (p.Tyr725=) rs758813812 0.00001
NM_001035.3(RYR2):c.2223A>G (p.Val741=) rs117242563 0.00001
NM_001035.3(RYR2):c.2808G>A (p.Ser936=) rs1057521205 0.00001
NM_001035.3(RYR2):c.3067-14G>C rs757471501 0.00001
NM_001035.3(RYR2):c.3105C>T (p.Tyr1035=) rs747358776 0.00001
NM_001035.3(RYR2):c.3729A>C (p.Thr1243=) rs536080941 0.00001
NM_001035.3(RYR2):c.5763G>A (p.Arg1921=) rs886046270 0.00001
NM_001035.3(RYR2):c.6688+13C>A rs1262322008 0.00001
NM_001035.3(RYR2):c.9927A>G (p.Lys3309=) rs184937795 0.00001
NM_001035.3(RYR2):c.9995C>T (p.Thr3332Met) rs774437805 0.00001
NM_001037.5(SCN1B):c.150C>T (p.Asn50=) rs147073518 0.00001
NM_001038603.3(MARVELD2):c.1059A>G (p.Ile353Met) rs727503158 0.00001
NM_001040108.2(MLH3):c.1125T>C (p.Asp375=) rs781394261 0.00001
NM_001040108.2(MLH3):c.3384T>C (p.Thr1128=) rs370951929 0.00001
NM_001040436.3(YARS2):c.*230A>G rs371690622 0.00001
NM_001040436.3(YARS2):c.234T>C (p.Cys78=) rs565102282 0.00001
NM_001040716.2(PC):c.3148-14C>T rs773784306 0.00001
NM_001040716.2(PC):c.78C>A (p.Ser26=) rs1161512784 0.00001
NM_001040716.2(PC):c.927C>T (p.Thr309=) rs373717650 0.00001
NM_001042492.3(NF1):c.3303G>A (p.Gln1101=) rs876659944 0.00001
NM_001042492.3(NF1):c.3891A>G (p.Leu1297=) rs753036396 0.00001
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp) rs773378630 0.00001
NM_001042492.3(NF1):c.6006+4T>C rs754909198 0.00001
NM_001042492.3(NF1):c.681T>C (p.Tyr227=) rs745804540 0.00001
NM_001042492.3(NF1):c.7110C>T (p.His2370=) rs201881479 0.00001
NM_001042492.3(NF1):c.7616-15A>C rs952554990 0.00001
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=) rs763452347 0.00001
NM_001048174.2(MUTYH):c.305-7C>A rs863224698 0.00001
NM_001065.4(TNFRSF1A):c.1058-8C>G rs764636915 0.00001
NM_001065.4(TNFRSF1A):c.269C>T (p.Thr90Ile) rs34751757 0.00001
NM_001065.4(TNFRSF1A):c.753G>A (p.Ser251=) rs201358363 0.00001
NM_001079866.2(BCS1L):c.258T>C (p.His86=) rs886055627 0.00001
NM_001079866.2(BCS1L):c.768C>G (p.Leu256=) rs781666793 0.00001
NM_001082971.2(DDC):c.564C>T (p.Ser188=) rs371336321 0.00001
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=) rs770931836 0.00001
NM_001101362.3(KBTBD13):c.252C>T (p.Cys84=) rs886051334 0.00001
NM_001113378.2(FANCI):c.1311A>G (p.Arg437=) rs772846275 0.00001
NM_001113525.2(ZNF276):c.*1220G>A rs1445940471 0.00001
NM_001114753.3(ENG):c.111C>T (p.Pro37=) rs755626994 0.00001
NM_001114753.3(ENG):c.1273-5C>T rs779103881 0.00001
NM_001122659.3(EDNRB):c.1194+15C>T rs886050325 0.00001
NM_001122659.3(EDNRB):c.483+15C>T rs936183003 0.00001
NM_001126108.2(SLC12A3):c.1545C>T (p.Ile515=) rs764801122 0.00001
NM_001126108.2(SLC12A3):c.2244G>A (p.Ser748=) rs150633177 0.00001
NM_001127671.2(LIFR):c.3060G>A (p.Glu1020=) rs537706381 0.00001
NM_001127671.2(LIFR):c.819T>C (p.Ser273=) rs756161883 0.00001
NM_001130823.3(DNMT1):c.3117-8G>A rs769623856 0.00001
NM_001130823.3(DNMT1):c.3537G>A (p.Thr1179=) rs761140414 0.00001
NM_001130823.3(DNMT1):c.4164C>T (p.Ser1388=) rs779701784 0.00001
NM_001130823.3(DNMT1):c.720A>G (p.Arg240=) rs760733624 0.00001
NM_001130987.2(DYSF):c.1276+13C>T rs373530549 0.00001
NM_001130987.2(DYSF):c.1493+13T>C rs886056279 0.00001
NM_001130987.2(DYSF):c.1577-1639G>C rs767550929 0.00001
NM_001130987.2(DYSF):c.1807-13T>C rs756387775 0.00001
NM_001130987.2(DYSF):c.1926C>T (p.Phe642=) rs550180529 0.00001
NM_001130987.2(DYSF):c.2400G>A (p.Leu800=) rs757613811 0.00001
NM_001130987.2(DYSF):c.3161C>T (p.Thr1054Ile) rs770883682 0.00001
NM_001130987.2(DYSF):c.4341G>A (p.Leu1447=) rs144072850 0.00001
NM_001130987.2(DYSF):c.4356G>A (p.Ser1452=) rs368451006 0.00001
NM_001130987.2(DYSF):c.554-8C>T rs1257627361 0.00001
NM_001130987.2(DYSF):c.5614G>A (p.Glu1872Lys) rs201592500 0.00001
NM_001134363.3(RBM20):c.1139G>A (p.Arg380Gln) rs777080028 0.00001
NM_001134363.3(RBM20):c.1338-4C>G rs753677364 0.00001
NM_001134363.3(RBM20):c.2174A>C (p.Glu725Ala) rs967504449 0.00001
NM_001134363.3(RBM20):c.2464C>A (p.Gln822Lys) rs377259044 0.00001
NM_001134363.3(RBM20):c.3317-10T>C rs772243422 0.00001
NM_001134363.3(RBM20):c.3609G>A (p.Lys1203=) rs892459274 0.00001
NM_001134363.3(RBM20):c.717A>T (p.Thr239=) rs886046700 0.00001
NM_001134407.3(GRIN2A):c.3636G>A (p.Thr1212=) rs765614514 0.00001
NM_001134407.3(GRIN2A):c.3809A>T (p.Asp1270Val) rs750649530 0.00001
NM_001134407.3(GRIN2A):c.687C>T (p.Leu229=) rs372649219 0.00001
NM_001134407.3(GRIN2A):c.843C>T (p.Tyr281=) rs554338361 0.00001
NM_001134407.3(GRIN2A):c.979C>G (p.Pro327Ala) rs771168389 0.00001
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu) rs559078881 0.00001
NM_001160372.4(TRAPPC9):c.1560C>T (p.Pro520=) rs886062724 0.00001
NM_001161352.2(KCNMA1):c.1209G>A (p.Ala403=) rs199572145 0.00001
NM_001161352.2(KCNMA1):c.1860-4G>T rs763267420 0.00001
NM_001161352.2(KCNMA1):c.2511C>T (p.Val837=) rs200166976 0.00001
NM_001161352.2(KCNMA1):c.3333G>A (p.Ala1111=) rs200045097 0.00001
NM_001161352.2(KCNMA1):c.3588G>A (p.Ser1196=) rs75138661 0.00001
NM_001161352.2(KCNMA1):c.3654G>A (p.Arg1218=) rs1445232499 0.00001
NM_001161352.2(KCNMA1):c.602+12A>G rs199818612 0.00001
NM_001164508.2(NEB):c.11165G>A (p.Arg3722Gln) rs757027644 0.00001
NM_001164508.2(NEB):c.1227C>T (p.Leu409=) rs371658494 0.00001
NM_001164508.2(NEB):c.16750A>G (p.Met5584Val) rs761807814 0.00001
NM_001164508.2(NEB):c.1698G>A (p.Glu566=) rs1242070276 0.00001
NM_001164508.2(NEB):c.17645G>A (p.Arg5882Gln) rs558345996 0.00001
NM_001164508.2(NEB):c.185C>T (p.Ser62Leu) rs764417105 0.00001
NM_001164508.2(NEB):c.18613G>A (p.Gly6205Ser) rs1292580496 0.00001
NM_001164508.2(NEB):c.19597G>A (p.Val6533Ile) rs368484176 0.00001
NM_001164508.2(NEB):c.19894A>G (p.Lys6632Glu) rs765189771 0.00001
NM_001164508.2(NEB):c.20155G>A (p.Glu6719Lys) rs767886794 0.00001
NM_001164508.2(NEB):c.20218C>A (p.Pro6740Thr) rs199722285 0.00001
NM_001164508.2(NEB):c.20290A>G (p.Met6764Val) rs372042301 0.00001
NM_001164508.2(NEB):c.2099A>G (p.Asn700Ser) rs770240346 0.00001
NM_001164508.2(NEB):c.22272+7T>C rs762551492 0.00001
NM_001164508.2(NEB):c.22801-7T>C rs368298970 0.00001
NM_001164508.2(NEB):c.22986T>C (p.His7662=) rs149606244 0.00001
NM_001164508.2(NEB):c.24743G>A (p.Arg8248His) rs781388562 0.00001
NM_001164508.2(NEB):c.25107A>G (p.Pro8369=) rs763433145 0.00001
NM_001164508.2(NEB):c.25219G>A (p.Glu8407Lys) rs766943894 0.00001
NM_001164508.2(NEB):c.4413G>A (p.Lys1471=) rs755877926 0.00001
NM_001164508.2(NEB):c.5853C>A (p.Ala1951=) rs757546480 0.00001
NM_001164508.2(NEB):c.6020T>C (p.Met2007Thr) rs199862790 0.00001
NM_001164508.2(NEB):c.7228-5C>T rs773213959 0.00001
NM_001166114.2(PNPLA6):c.1212T>C (p.Pro404=) rs748049105 0.00001
NM_001166114.2(PNPLA6):c.131C>T (p.Pro44Leu) rs372169542 0.00001
NM_001166114.2(PNPLA6):c.2277G>A (p.Val759=) rs1030480370 0.00001
NM_001166114.2(PNPLA6):c.2402-11C>A rs756209420 0.00001
NM_001166114.2(PNPLA6):c.2958A>G (p.Val986=) rs752794292 0.00001
NM_001166114.2(PNPLA6):c.3339G>A (p.Leu1113=) rs770303471 0.00001
NM_001166114.2(PNPLA6):c.621G>A (p.Leu207=) rs200521839 0.00001
NM_001166114.2(PNPLA6):c.684C>T (p.Asp228=) rs375424103 0.00001
NM_001182.5(ALDH7A1):c.1008+11C>T rs367574304 0.00001
NM_001182.5(ALDH7A1):c.1415+15A>G rs370757950 0.00001
NM_001182.5(ALDH7A1):c.222C>T (p.Asn74=) rs1007871645 0.00001
NM_001199397.3(NEK1):c.3075C>T (p.Asn1025=) rs886059227 0.00001
NM_001199397.3(NEK1):c.3405A>G (p.Gln1135=) rs774338352 0.00001
NM_001242957.3(MAK):c.968C>G (p.Pro323Arg) rs200641218 0.00001
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=) rs530089317 0.00001
NM_001244710.2(GFPT1):c.1010-10A>G rs753072061 0.00001
NM_001244710.2(GFPT1):c.2001C>T (p.Ser667=) rs765856240 0.00001
NM_001256545.2(MEGF10):c.1008C>T (p.Ser336=) rs145815113 0.00001
NM_001256545.2(MEGF10):c.1215C>T (p.Tyr405=) rs781762135 0.00001
NM_001256545.2(MEGF10):c.789G>A (p.Val263=) rs1188804374 0.00001
NM_001256545.2(MEGF10):c.951C>T (p.Gly317=) rs145870973 0.00001
NM_001267550.2(TTN):c.40408+7_40408+10dup rs397517560 0.00001
NM_001277115.2(DNAH11):c.11546G>T (p.Gly3849Val) rs145735492 0.00001
NM_001277115.2(DNAH11):c.13035T>C (p.Tyr4345=) rs545264816 0.00001
NM_001277115.2(DNAH11):c.1995C>T (p.His665=) rs752831166 0.00001
NM_001277115.2(DNAH11):c.4713T>C (p.Asp1571=) rs72657324 0.00001
NM_001277115.2(DNAH11):c.891A>G (p.Ala297=) rs201934527 0.00001
NM_001277115.2(DNAH11):c.982+12G>A rs546259810 0.00001
NM_001330078.2(NRXN1):c.1760-13C>G rs886056171 0.00001
NM_001330078.2(NRXN1):c.2698A>C (p.Arg900=) rs574531814 0.00001
NM_001330078.2(NRXN1):c.3012G>A (p.Lys1004=) rs201118246 0.00001
NM_001330078.2(NRXN1):c.3237A>G (p.Gly1079=) rs886056170 0.00001
NM_001352514.2(HLCS):c.609C>T (p.Asp203=) rs370118884 0.00001
NM_001352514.2(HLCS):c.723C>A (p.Gly241=) rs886057077 0.00001
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=) rs779907293 0.00001
NM_001355436.2(SPTB):c.5319C>T (p.Asp1773=) rs767020547 0.00001
NM_001355436.2(SPTB):c.6324G>A (p.Ala2108=) rs756164746 0.00001
NM_001358530.2(MOCS1):c.1788T>G (p.Ser596=) rs200764011 0.00001
NM_001358530.2(MOCS1):c.426C>T (p.Leu142=) rs375882259 0.00001
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile) rs368473756 0.00001
NM_001360.3(DHCR7):c.322-7G>A rs1359774813 0.00001
NM_001365088.1(SLC12A6):c.1707A>G (p.Pro569=) rs764272139 0.00001
NM_001365088.1(SLC12A6):c.964G>A (p.Gly322Ser) rs75235010 0.00001
NM_001365536.1(SCN9A):c.*669A>G rs538508619 0.00001
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=) rs201990547 0.00001
NM_001365536.1(SCN9A):c.1482G>T (p.Lys494Asn) rs777699798 0.00001
NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=) rs200876333 0.00001
NM_001365951.3(KIF1B):c.1038-5del rs886044976 0.00001
NM_001367721.1(CASK):c.2155+4G>A rs749155089 0.00001
NM_001369369.1(FOXN1):c.1554C>T (p.Thr518=) rs146694795 0.00001
NM_001369369.1(FOXN1):c.42G>A (p.Pro14=) rs553583507 0.00001
NM_001369369.1(FOXN1):c.589-12C>A rs185748978 0.00001
NM_001370259.2(MEN1):c.570G>A (p.Gly190=) rs547249181 0.00001
NM_001371596.2(MFSD8):c.288A>G (p.Leu96=) rs1008821019 0.00001
NM_001371596.2(MFSD8):c.421T>C (p.Leu141=) rs778330834 0.00001
NM_001372051.1(CASP8):c.1038T>C (p.Pro346=) rs768360449 0.00001
NM_001375808.2(LPIN2):c.1404C>T (p.Asp468=) rs376147435 0.00001
NM_001375808.2(LPIN2):c.54C>A (p.Leu18=) rs753729438 0.00001
NM_001375808.2(LPIN2):c.590+8T>G rs760846327 0.00001
NM_001375808.2(LPIN2):c.756G>A (p.Ala252=) rs570485374 0.00001
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=) rs199792795 0.00001
NM_001376.5(DYNC1H1):c.13719C>T (p.Asn4573=) rs886050377 0.00001
NM_001376.5(DYNC1H1):c.249G>C (p.Thr83=) rs1024563256 0.00001
NM_001376.5(DYNC1H1):c.2719-15T>C rs748772899 0.00001
NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=) rs527943422 0.00001
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=) rs2273439 0.00001
NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=) rs773425996 0.00001
NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=) rs2048183675 0.00001
NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=) rs1184080545 0.00001
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=) rs201817995 0.00001
NM_001377.3(DYNC2H1):c.1000-7A>G rs745325616 0.00001
NM_001377.3(DYNC2H1):c.10848T>G (p.Ser3616=) rs199958495 0.00001
NM_001377.3(DYNC2H1):c.4611+14C>T rs766124250 0.00001
NM_001377.3(DYNC2H1):c.5472T>C (p.Leu1824=) rs886047564 0.00001
NM_001377.3(DYNC2H1):c.7782A>G (p.Pro2594=) rs886047566 0.00001
NM_001377265.1(MAPT):c.2173+9G>C rs979650971 0.00001
NM_001377265.1(MAPT):c.220+2538C>G rs368845248 0.00001
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu) rs536900412 0.00001
NM_001378615.1(CC2D2A):c.4675-14T>A rs766203266 0.00001
NM_001378615.1(CC2D2A):c.541-5G>A rs369022150 0.00001
NM_001379610.1(SPINK1):c.38C>T (p.Ala13Val) rs770387107 0.00001
NM_001386393.1(PANK2):c.-10G>A rs771710781 0.00001
NM_001386393.1(PANK2):c.258C>G (p.Val86=) rs746054643 0.00001
NM_001386393.1(PANK2):c.298+10C>T rs755815669 0.00001
NM_001386393.1(PANK2):c.54G>C (p.Arg18=) rs930563925 0.00001
NM_001395413.1(POR):c.1152C>T (p.Asn384=) rs1554558784 0.00001
NM_001395413.1(POR):c.1706C>T (p.Ser569Leu) rs370645073 0.00001
NM_001395413.1(POR):c.821+15C>T rs540000393 0.00001
NM_001457.4(FLNB):c.1148-8T>G rs376416099 0.00001
NM_001457.4(FLNB):c.1384C>T (p.Leu462=) rs139725835 0.00001
NM_001457.4(FLNB):c.2136G>A (p.Lys712=) rs777288340 0.00001
NM_001457.4(FLNB):c.2187C>T (p.His729=) rs751586969 0.00001
NM_001457.4(FLNB):c.2297C>T (p.Thr766Met) rs758045039 0.00001
NM_001457.4(FLNB):c.2643C>T (p.Asn881=) rs774413686 0.00001
NM_001457.4(FLNB):c.4766T>A (p.Met1589Lys) rs780225340 0.00001
NM_001457.4(FLNB):c.5729-4C>T rs116142791 0.00001
NM_001457.4(FLNB):c.5916C>T (p.Gly1972=) rs112942586 0.00001
NM_001457.4(FLNB):c.6226G>A (p.Ala2076Thr) rs141559684 0.00001
NM_001457.4(FLNB):c.6237C>T (p.His2079=) rs767109451 0.00001
NM_001457.4(FLNB):c.7176G>A (p.Thr2392=) rs770144367 0.00001
NM_001457.4(FLNB):c.852C>T (p.Ala284=) rs765017696 0.00001
NM_001457.4(FLNB):c.9A>G (p.Val3=) rs199846967 0.00001
NM_001558.4(IL10RA):c.1323G>A (p.Val441=) rs746663189 0.00001
NM_001609.4(ACADSB):c.219G>A (p.Gln73=) rs756256851 0.00001
NM_001609.4(ACADSB):c.681+14C>T rs748185849 0.00001
NM_001613.4(ACTA2):c.808+14G>A rs774120023 0.00001
NM_001698.3(AUH):c.894+9C>A rs1388023086 0.00001
NM_001754.5(RUNX1):c.981G>C (p.Leu327=) rs376269814 0.00001
NM_001844.5(COL2A1):c.1938T>C (p.Pro646=) rs368641858 0.00001
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=) rs371835359 0.00001
NM_001844.5(COL2A1):c.2410-11C>T rs886049447 0.00001
NM_001844.5(COL2A1):c.2805C>T (p.Ser935=) rs948633441 0.00001
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu) rs371268468 0.00001
NM_001844.5(COL2A1):c.711T>A (p.Gly237=) rs764487245 0.00001
NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser) rs1470645150 0.00001
NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu) rs760889798 0.00001
NM_001875.5(CPS1):c.2454A>G (p.Pro818=) rs765712117 0.00001
NM_001875.5(CPS1):c.3174C>T (p.Gly1058=) rs369030433 0.00001
NM_001875.5(CPS1):c.3286T>C (p.Leu1096=) rs749825961 0.00001
NM_001875.5(CPS1):c.3558+7G>A rs764456030 0.00001
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln) rs778117194 0.00001
NM_001887.4(CRYBB1):c.384G>A (p.Ser128=) rs370514627 0.00001
NM_001918.5(DBT):c.198G>A (p.Gln66=) rs201714436 0.00001
NM_001943.5(DSG2):c.1479C>T (p.Asn493=) rs778100657 0.00001
NM_001943.5(DSG2):c.1758T>C (p.Leu586=) rs773812422 0.00001
NM_001943.5(DSG2):c.2335-9T>C rs757355636 0.00001
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile) rs772744115 0.00001
NM_001943.5(DSG2):c.447T>C (p.Val149=) rs1389484271 0.00001
NM_001943.5(DSG2):c.990C>T (p.Asn330=) rs140575919 0.00001
NM_001999.4(FBN2):c.1143G>T (p.Gly381=) rs749428195 0.00001
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile) rs773667668 0.00001
NM_001999.4(FBN2):c.3277A>G (p.Ile1093Val) rs747248488 0.00001
NM_001999.4(FBN2):c.4608T>C (p.Cys1536=) rs1176811808 0.00001
NM_001999.4(FBN2):c.5587C>T (p.Arg1863Trp) rs1192632165 0.00001
NM_001999.4(FBN2):c.6033C>G (p.Gly2011=) rs749647897 0.00001
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=) rs772832233 0.00001
NM_001999.4(FBN2):c.680G>A (p.Gly227Glu) rs760247833 0.00001
NM_002076.4(GNS):c.1104G>T (p.Leu368=) rs766168524 0.00001
NM_002103.5(GYS1):c.1242C>T (p.Pro414=) rs751382433 0.00001
NM_002103.5(GYS1):c.216C>T (p.Gly72=) rs773065230 0.00001
NM_002187.3(IL12B):c.105G>A (p.Leu35=) rs1562113724 0.00001
NM_002187.3(IL12B):c.822C>T (p.Cys274=) rs764163895 0.00001
NM_002225.5(IVD):c.150T>A (p.Arg50=) rs762440985 0.00001
NM_002234.4(KCNA5):c.1210C>T (p.Leu404=) rs886049576 0.00001
NM_002234.4(KCNA5):c.1701G>A (p.Gly567=) rs771735295 0.00001
NM_002241.5(KCNJ10):c.21G>A (p.Val7=) rs750227861 0.00001
NM_002292.4(LAMB2):c.2720+13C>A rs369359244 0.00001
NM_002303.6(LEPR):c.921G>C (p.Gln307His) rs531183918 0.00001
NM_002386.4(MC1R):c.66C>T (p.Pro22=) rs773395822 0.00001
NM_002435.3(MPI):c.145-11T>C rs768029221 0.00001
NM_002474.3(MYH11):c.1356T>A (p.Ala452=) rs778073237 0.00001
NM_002474.3(MYH11):c.1576-4A>G rs189193825 0.00001
NM_002474.3(MYH11):c.2997+10G>T rs886051760 0.00001
NM_002474.3(MYH11):c.3831G>A (p.Glu1277=) rs752821481 0.00001
NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu) rs200737737 0.00001
NM_002474.3(MYH11):c.4074C>T (p.Ala1358=) rs370519992 0.00001
NM_002474.3(MYH11):c.465C>T (p.Tyr155=) rs145810355 0.00001
NM_002474.3(MYH11):c.4660G>A (p.Glu1554Lys) rs372598970 0.00001
NM_002474.3(MYH11):c.4899C>T (p.Ala1633=) rs760584464 0.00001
NM_002474.3(MYH11):c.540T>C (p.Ser180=) rs182700462 0.00001
NM_002474.3(MYH11):c.720A>T (p.Ser240=) rs143160789 0.00001
NM_002485.5(NBN):c.1383G>A (p.Pro461=) rs886063169 0.00001
NM_002485.5(NBN):c.567G>A (p.Gln189=) rs1203807404 0.00001
NM_002506.3(NGF):c.174G>A (p.Ala58=) rs147326889 0.00001
NM_002506.3(NGF):c.93C>G (p.Thr31=) rs1014644520 0.00001
NM_002529.4(NTRK1):c.1005G>A (p.Pro335=) rs780334454 0.00001
NM_002529.4(NTRK1):c.1196-11T>C rs1024148691 0.00001
NM_002529.4(NTRK1):c.1646C>T (p.Ala549Val) rs763247367 0.00001
NM_002529.4(NTRK1):c.326A>G (p.Asp109Gly) rs141592864 0.00001
NM_002617.4(PEX10):c.112+11G>T rs1322541651 0.00001
NM_002617.4(PEX10):c.194-5C>T rs375032738 0.00001
NM_002618.4(PEX13):c.1158G>A (p.Lys386=) rs371789976 0.00001
NM_002633.3(PGM1):c.327T>C (p.Ile109=) rs770271653 0.00001
NM_002637.4(PHKA1):c.1698C>A (p.Ile566=) rs369728544 0.00001
NM_002693.3(POLG):c.1599C>G (p.Cys533Trp) rs754246294 0.00001
NM_002693.3(POLG):c.1887C>T (p.Asp629=) rs886051524 0.00001
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr) rs568913937 0.00001
NM_002693.3(POLG):c.2040G>A (p.Leu680=) rs367740265 0.00001
NM_002700.3(POU4F3):c.798A>G (p.Pro266=) rs572492254 0.00001
NM_002734.5(PRKAR1A):c.-11C>T rs1021510770 0.00001
NM_002734.5(PRKAR1A):c.309G>A (p.Glu103=) rs746113372 0.00001
NM_002778.4(PSAP):c.1146C>T (p.Cys382=) rs573095617 0.00001
NM_002778.4(PSAP):c.1432-4A>G rs775086571 0.00001
NM_002778.4(PSAP):c.250-12G>A rs886047152 0.00001
NM_002778.4(PSAP):c.423C>T (p.Leu141=) rs780891597 0.00001
NM_002890.3(RASA1):c.2139T>C (p.Ser713=) rs202220195 0.00001
NM_002890.3(RASA1):c.2926-14C>T rs886060843 0.00001
NM_002890.3(RASA1):c.567G>A (p.Thr189=) rs139174054 0.00001
NM_003119.4(SPG7):c.2373G>A (p.Pro791=) rs768453376 0.00001
NM_003119.4(SPG7):c.618+14C>T rs574361328 0.00001
NM_003172.4(SURF1):c.106+15C>G rs781892153 0.00001
NM_003172.4(SURF1):c.366C>T (p.Val122=) rs886063630 0.00001
NM_003172.4(SURF1):c.801G>A (p.Leu267=) rs782120692 0.00001
NM_003238.6(TGFB2):c.918G>A (p.Ala306=) rs767936611 0.00001
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=) rs886058304 0.00001
NM_003283.6(TNNT1):c.366C>T (p.Arg122=) rs375999352 0.00001
NM_003289.4(TPM2):c.558C>T (p.Ala186=) rs746177794 0.00001
NM_003289.4(TPM2):c.564-9C>T rs763429317 0.00001
NM_003331.5(TYK2):c.2658G>A (p.Ala886=) rs761205319 0.00001
NM_003331.5(TYK2):c.879C>T (p.Ile293=) rs375414145 0.00001
NM_003384.3(VRK1):c.828T>C (p.Ile276=) rs1334577291 0.00001
NM_003413.4(ZIC3):c.668A>G (p.Asn223Ser) rs1034877221 0.00001
NM_003482.4(KMT2D):c.14057A>C (p.Asn4686Thr) rs1188206999 0.00001
NM_003560.4(PLA2G6):c.2028C>T (p.Ile676=) rs561645994 0.00001
NM_003640.5(ELP1):c.2370A>G (p.Glu790=) rs772114554 0.00001
NM_003640.5(ELP1):c.2598C>T (p.Pro866=) rs773218149 0.00001
NM_003640.5(ELP1):c.3931+14C>G rs555520875 0.00001
NM_003640.5(ELP1):c.959-8C>T rs766511916 0.00001
NM_003664.5(AP3B1):c.1364-11A>G rs759174401 0.00001
NM_003664.5(AP3B1):c.1890T>C (p.Ala630=) rs774196917 0.00001
NM_003664.5(AP3B1):c.537-7T>A rs773657171 0.00001
NM_003680.4(YARS1):c.391C>T (p.Leu131=) rs759430430 0.00001
NM_003722.5(TP63):c.1644C>T (p.Ser548=) rs763019843 0.00001
NM_003748.4(ALDH4A1):c.876A>G (p.Lys292=) rs775591571 0.00001
NM_003764.4(STX11):c.570C>T (p.Ser190=) rs148354227 0.00001
NM_003849.4(SUCLG1):c.201+8T>A rs764185628 0.00001
NM_003850.3(SUCLA2):c.1318-15G>A rs369590382 0.00001
NM_003850.3(SUCLA2):c.535-13C>T rs372847680 0.00001
NM_003859.3(DPM1):c.295+7C>T rs775797102 0.00001
NM_003859.3(DPM1):c.295+8G>A rs758553918 0.00001
NM_003978.5(PSTPIP1):c.1248T>C (p.Leu416=) rs556322755 0.00001
NM_004035.7(ACOX1):c.1821T>C (p.Val607=) rs762221413 0.00001
NM_004035.7(ACOX1):c.408T>C (p.Tyr136=) rs779313800 0.00001
NM_004035.7(ACOX1):c.659-4G>A rs746563980 0.00001
NM_004064.5(CDKN1B):c.279G>A (p.Arg93=) rs766901538 0.00001
NM_004100.5(EYA4):c.438-15T>C rs752763979 0.00001
NM_004100.5(EYA4):c.888G>A (p.Ser296=) rs768010410 0.00001
NM_004211.5(SLC6A5):c.4-11T>C rs774039277 0.00001
NM_004239.4(TRIP11):c.5571T>C (p.Asn1857=) rs369316409 0.00001
NM_004239.4(TRIP11):c.5607A>G (p.Glu1869=) rs764596712 0.00001
NM_004239.4(TRIP11):c.5811A>C (p.Gly1937=) rs748645116 0.00001
NM_004281.4(BAG3):c.1571T>C (p.Ile524Thr) rs752390475 0.00001
NM_004304.5(ALK):c.1908C>G (p.Leu636=) rs1268649558 0.00001
NM_004304.5(ALK):c.2304T>C (p.Asp768=) rs758649392 0.00001
NM_004304.5(ALK):c.4344C>T (p.Ser1448=) rs886055929 0.00001
NM_004304.5(ALK):c.4608G>A (p.Glu1536=) rs147241767 0.00001
NM_004304.5(ALK):c.4809T>C (p.His1603=) rs758502850 0.00001
NM_004320.6(ATP2A1):c.450C>T (p.Ile150=) rs781369773 0.00001
NM_004360.5(CDH1):c.150C>A (p.Arg50=) rs786201262 0.00001
NM_004360.5(CDH1):c.2505T>C (p.Tyr835=) rs786202613 0.00001
NM_004360.5(CDH1):c.462A>G (p.Arg154=) rs1057520261 0.00001
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys) rs781084693 0.00001
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe) rs1363445022 0.00001
NM_004415.4(DSP):c.2131-5G>C rs767939332 0.00001
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys) rs755067397 0.00001
NM_004415.4(DSP):c.2878-4G>A rs758303966 0.00001
NM_004415.4(DSP):c.314G>A (p.Arg105Gln) rs762238621 0.00001
NM_004415.4(DSP):c.3601G>A (p.Glu1201Lys) rs751566392 0.00001
NM_004415.4(DSP):c.4671G>A (p.Thr1557=) rs367767551 0.00001
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr) rs757753880 0.00001
NM_004415.4(DSP):c.5217C>T (p.Ser1739=) rs748263306 0.00001
NM_004415.4(DSP):c.5283C>T (p.Asn1761=) rs763355815 0.00001
NM_004415.4(DSP):c.5649G>A (p.Ser1883=) rs760974941 0.00001
NM_004415.4(DSP):c.5820T>C (p.Asp1940=) rs763026647 0.00001
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln) rs557263443 0.00001
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr) rs777901747 0.00001
NM_004415.4(DSP):c.7551G>A (p.Val2517=) rs754127386 0.00001
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr) rs991726607 0.00001
NM_004415.4(DSP):c.8529T>C (p.Ser2843=) rs780005300 0.00001
NM_004415.4(DSP):c.9C>T (p.Cys3=) rs769032973 0.00001
NM_004453.4(ETFDH):c.12G>A (p.Pro4=) rs373776053 0.00001
NM_004453.4(ETFDH):c.1530C>T (p.Pro510=) rs754795292 0.00001
NM_004453.4(ETFDH):c.1653G>A (p.Ser551=) rs1408118210 0.00001
NM_004453.4(ETFDH):c.414T>G (p.Leu138=) rs751256504 0.00001
NM_004612.4(TGFBR1):c.666A>G (p.Gly222=) rs886063223 0.00001
NM_004655.4(AXIN2):c.1713C>T (p.Gly571=) rs761978806 0.00001
NM_004655.4(AXIN2):c.2100C>T (p.Ala700=) rs1057522521 0.00001
NM_004656.4(BAP1):c.177G>A (p.Arg59=) rs770446947 0.00001
NM_004656.4(BAP1):c.581-4C>T rs1578225974 0.00001
NM_004656.4(BAP1):c.581-6C>T rs754576458 0.00001
NM_005198.5(CHKB):c.1031+12G>A rs777277938 0.00001
NM_005198.5(CHKB):c.1114-6C>T rs151123092 0.00001
NM_005198.5(CHKB):c.234C>G (p.Leu78=) rs929019284 0.00001
NM_005198.5(CHKB):c.678-12A>G rs749813559 0.00001
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=) rs774771496 0.00001
NM_005327.7(HADH):c.*383G>C rs550706321 0.00001
NM_005327.7(HADH):c.159A>G (p.Val53=) rs148846625 0.00001
NM_005327.7(HADH):c.72G>A (p.Lys24=) rs781319494 0.00001
NM_005359.6(SMAD4):c.249+10A>C rs752243771 0.00001
NM_005379.4(MYO1A):c.522C>T (p.Leu174=) rs561295735 0.00001
NM_005445.4(SMC3):c.2163C>T (p.Ile721=) rs1193209124 0.00001
NM_005535.3(IL12RB1):c.1197C>T (p.Tyr399=) rs761731702 0.00001
NM_005546.4(ITK):c.1060+12A>C rs765303299 0.00001
NM_005566.4(LDHA):c.222A>G (p.Thr74=) rs201254300 0.00001
NM_005566.4(LDHA):c.285G>A (p.Thr95=) rs202160072 0.00001
NM_005591.4(MRE11):c.1225+10T>G rs863224734 0.00001
NM_005591.4(MRE11):c.1275A>C (p.Thr425=) rs749712745 0.00001
NM_005591.4(MRE11):c.1783+10G>C rs864622589 0.00001
NM_005591.4(MRE11):c.20+8C>A rs766581183 0.00001
NM_005609.4(PYGM):c.1011G>A (p.Gln337=) rs767039732 0.00001
NM_005609.4(PYGM):c.1092+15C>T rs1319046232 0.00001
NM_005609.4(PYGM):c.2082C>T (p.Asp694=) rs773543072 0.00001
NM_005609.4(PYGM):c.2322C>T (p.Val774=) rs1045215677 0.00001
NM_005609.4(PYGM):c.256C>T (p.Leu86=) rs541817643 0.00001
NM_005787.6(ALG3):c.66G>A (p.Lys22=) rs778269575 0.00001
NM_005787.6(ALG3):c.696C>T (p.Leu232=) rs1174962210 0.00001
NM_005902.4(SMAD3):c.1010-12T>C rs773629535 0.00001
NM_005908.4(MANBA):c.1112+8A>C rs752741187 0.00001
NM_005908.4(MANBA):c.111G>T (p.Ser37=) rs927918838 0.00001
NM_005908.4(MANBA):c.1746A>T (p.Ser582=) rs1730293546 0.00001
NM_005908.4(MANBA):c.2115T>C (p.Tyr705=) rs180816849 0.00001
NM_006005.3(WFS1):c.1234G>C (p.Val412Leu) rs149865710 0.00001
NM_006005.3(WFS1):c.2454C>T (p.Arg818=) rs139223980 0.00001
NM_006005.3(WFS1):c.804C>T (p.Asp268=) rs199741678 0.00001
NM_006096.4(NDRG1):c.855+14_855+15del rs780070007 0.00001
NM_006118.4(HAX1):c.798C>T (p.Ser266=) rs762492730 0.00001
NM_006206.6(PDGFRA):c.1122-6T>A rs754623338 0.00001
NM_006206.6(PDGFRA):c.1794C>T (p.Val598=) rs1218651787 0.00001
NM_006206.6(PDGFRA):c.2003-7C>T rs886059447 0.00001
NM_006206.6(PDGFRA):c.2232C>T (p.Pro744=) rs1060504254 0.00001
NM_006206.6(PDGFRA):c.2881-8G>A rs778161572 0.00001
NM_006206.6(PDGFRA):c.345G>A (p.Arg115=) rs778510648 0.00001
NM_006306.4(SMC1A):c.1917G>A (p.Val639=) rs782292864 0.00001
NM_006348.5(COG5):c.538+10T>G rs769195866 0.00001
NM_006348.5(COG5):c.836-9C>T rs757452204 0.00001
NM_006371.5(CRTAP):c.528T>G (p.Pro176=) rs774680682 0.00001
NM_006397.3(RNASEH2A):c.285G>A (p.Val95=) rs374650162 0.00001
NM_006397.3(RNASEH2A):c.516C>T (p.Tyr172=) rs1415211346 0.00001
NM_006397.3(RNASEH2A):c.637+8G>A rs757139110 0.00001
NM_006397.3(RNASEH2A):c.762-13C>G rs781591228 0.00001
NM_006757.4(TNNT3):c.690G>A (p.Thr230=) rs753756081 0.00001
NM_006790.3(MYOT):c.1222T>C (p.Leu408=) rs886059968 0.00001
NM_006892.4(DNMT3B):c.132G>A (p.Pro44=) rs138805251 0.00001
NM_006892.4(DNMT3B):c.895C>A (p.Arg299=) rs201067137 0.00001
NM_006949.4(STXBP2):c.1230C>T (p.Tyr410=) rs771186417 0.00001
NM_006949.4(STXBP2):c.169+11G>C rs756350869 0.00001
NM_007078.3(LDB3):c.723C>T (p.Ser241=) rs200580597 0.00001
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425 0.00001
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=) rs758555487 0.00001
NM_007194.4(CHEK2):c.573G>C (p.Leu191=) rs786201267 0.00001
NM_007272.3(CTRC):c.230+7G>A rs754126755 0.00001
NM_007294.4(BRCA1):c.2613G>A (p.Pro871=) rs587782608 0.00001
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys) rs80357049 0.00001
NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=) rs80356840 0.00001
NM_007294.4(BRCA1):c.5153-13A>G rs45471406 0.00001
NM_007294.4(BRCA1):c.5586C>T (p.His1862=) rs774127304 0.00001
NM_012179.4(FBXO7):c.1527C>A (p.Pro509=) rs758609287 0.00001
NM_012179.4(FBXO7):c.447G>A (p.Glu149=) rs1012166328 0.00001
NM_012275.3(IL36RN):c.333C>T (p.Phe111=) rs199824136 0.00001
NM_012434.5(SLC17A5):c.1272C>A (p.Ile424=) rs374241516 0.00001
NM_012434.5(SLC17A5):c.573C>G (p.Pro191=) rs924683894 0.00001
NM_013339.4(ALG6):c.430-9T>G rs769256352 0.00001
NM_013339.4(ALG6):c.648C>G (p.Gly216=) rs1270440540 0.00001
NM_013444.4(UBQLN2):c.243A>G (p.Leu81=) rs778382794 0.00001
NM_014000.3(VCL):c.1543+8C>G rs886047218 0.00001
NM_014000.3(VCL):c.3186G>A (p.Gln1062=) rs761534024 0.00001
NM_014000.3(VCL):c.36C>T (p.Ile12=) rs774195260 0.00001
NM_014049.5(ACAD9):c.1062C>T (p.Tyr354=) rs886057957 0.00001
NM_014049.5(ACAD9):c.1398C>T (p.Thr466=) rs772732061 0.00001
NM_014049.5(ACAD9):c.284A>C (p.Asp95Ala) rs761565265 0.00001
NM_014140.4(SMARCAL1):c.1944C>T (p.Ser648=) rs752241342 0.00001
NM_014140.4(SMARCAL1):c.2316A>G (p.Gln772=) rs1322248626 0.00001
NM_014141.6(CNTNAP2):c.3651G>A (p.Ser1217=) rs377455159 0.00001
NM_014141.6(CNTNAP2):c.687A>G (p.Glu229=) rs767033703 0.00001
NM_014141.6(CNTNAP2):c.87C>T (p.Pro29=) rs886062049 0.00001
NM_014244.5(ADAMTS2):c.1428G>A (p.Pro476=) rs374288519 0.00001
NM_014244.5(ADAMTS2):c.2290+15C>T rs764259203 0.00001
NM_014244.5(ADAMTS2):c.2688C>T (p.Ala896=) rs370747086 0.00001
NM_014244.5(ADAMTS2):c.2727C>T (p.Asn909=) rs151261888 0.00001
NM_014244.5(ADAMTS2):c.2811G>A (p.Val937=) rs557019144 0.00001
NM_014244.5(ADAMTS2):c.2958+14C>T rs755961602 0.00001
NM_014244.5(ADAMTS2):c.3089-7C>A rs760424301 0.00001
NM_014244.5(ADAMTS2):c.3351C>T (p.Asp1117=) rs777279065 0.00001
NM_014244.5(ADAMTS2):c.661C>G (p.Leu221Val) rs756807336 0.00001
NM_014244.5(ADAMTS2):c.669G>T (p.Gly223=) rs886060495 0.00001
NM_014244.5(ADAMTS2):c.819C>T (p.Gly273=) rs751895494 0.00001
NM_014252.4(SLC25A15):c.225C>T (p.Ile75=) rs765380976 0.00001
NM_014290.3(TDRD7):c.2955A>G (p.Gly985=) rs201216195 0.00001
NM_014297.5(ETHE1):c.489G>A (p.Arg163=) rs533076307 0.00001
NM_014324.6(AMACR):c.366C>T (p.His122=) rs775128044 0.00001
NM_014324.6(AMACR):c.48G>A (p.Pro16=) rs144271819 0.00001
NM_014336.5(AIPL1):c.33G>C (p.Gly11=) rs369223841 0.00001
NM_014336.5(AIPL1):c.939G>A (p.Ala313=) rs200401166 0.00001
NM_014339.7(IL17RA):c.1045+7G>A rs572837622 0.00001
NM_014339.7(IL17RA):c.1347C>T (p.Arg449=) rs781731675 0.00001
NM_014339.7(IL17RA):c.1928G>A (p.Gly643Glu) rs559058243 0.00001
NM_014339.7(IL17RA):c.36G>T (p.Pro12=) rs886057200 0.00001
NM_014363.6(SACS):c.1728C>T (p.Tyr576=) rs750748828 0.00001
NM_014363.6(SACS):c.3417C>T (p.His1139=) rs758862765 0.00001
NM_014363.6(SACS):c.60C>T (p.Cys20=) rs932552006 0.00001
NM_014363.6(SACS):c.861C>T (p.Tyr287=) rs200877272 0.00001
NM_014425.5(INVS):c.1317C>T (p.Cys439=) rs886063266 0.00001
NM_014585.6(SLC40A1):c.546G>A (p.Gln182=) rs104893670 0.00001
NM_014714.4(IFT140):c.1452G>A (p.Thr484=) rs914258252 0.00001
NM_014714.4(IFT140):c.1872G>A (p.Thr624=) rs775156902 0.00001
NM_014714.4(IFT140):c.298C>G (p.Leu100Val) rs546498421 0.00001
NM_014714.4(IFT140):c.3402C>T (p.Ile1134=) rs761692949 0.00001
NM_014714.4(IFT140):c.3501C>T (p.Thr1167=) rs377319314 0.00001
NM_014714.4(IFT140):c.3525C>G (p.Thr1175=) rs752664070 0.00001
NM_014714.4(IFT140):c.36G>A (p.Pro12=) rs574028286 0.00001
NM_014714.4(IFT140):c.4026C>T (p.Phe1342=) rs776522454 0.00001
NM_014714.4(IFT140):c.4251G>A (p.Pro1417=) rs773095902 0.00001
NM_014714.4(IFT140):c.4278G>T (p.Gly1426=) rs200161877 0.00001
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr) rs778404277 0.00001
NM_014855.3(AP5Z1):c.1119C>T (p.Phe373=) rs886062353 0.00001
NM_014855.3(AP5Z1):c.1597T>C (p.Leu533=) rs775572689 0.00001
NM_014855.3(AP5Z1):c.1707+14C>T rs759055397 0.00001
NM_014855.3(AP5Z1):c.1863G>A (p.Glu621=) rs780422345 0.00001
NM_014874.4(MFN2):c.2204+13C>T rs200441797 0.00001
NM_015192.4(PLCB1):c.1668A>G (p.Glu556=) rs886056963 0.00001
NM_015192.4(PLCB1):c.3447A>G (p.Glu1149=) rs142432676 0.00001
NM_015192.4(PLCB1):c.456G>A (p.Leu152=) rs200598979 0.00001
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu) rs886038619 0.00001
NM_015474.4(SAMHD1):c.1725C>T (p.Asp575=) rs1448113794 0.00001
NM_015474.4(SAMHD1):c.840C>T (p.Val280=) rs17853622 0.00001
NM_015627.3(LDLRAP1):c.88+8T>A rs2043860268 0.00001
NM_015915.5(ATL1):c.1623T>G (p.Ala541=) rs777479928 0.00001
NM_015915.5(ATL1):c.300T>G (p.Val100=) rs863224772 0.00001
NM_016042.4(EXOSC3):c.325-6T>C rs375827861 0.00001
NM_016203.4(PRKAG2):c.186+7C>T rs886062102 0.00001
NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser) rs730880970 0.00001
NM_016219.5(MAN1B1):c.1110C>G (p.Ser370=) rs776601946 0.00001
NM_016219.5(MAN1B1):c.1626C>T (p.Pro542=) rs754107444 0.00001
NM_016219.5(MAN1B1):c.1998G>A (p.Lys666=) rs150436630 0.00001
NM_016219.5(MAN1B1):c.2016C>T (p.Phe672=) rs746212127 0.00001
NM_016219.5(MAN1B1):c.882G>A (p.Ala294=) rs750236367 0.00001
NM_016277.5(RAB23):c.93A>G (p.Lys31=) rs201735614 0.00001
NM_016464.5(TMEM138):c.420A>G (p.Arg140=) rs548368196 0.00001
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln) rs569659022 0.00001
NM_016729.3(FOLR1):c.57A>G (p.Val19=) rs769589754 0.00001
NM_016729.3(FOLR1):c.588C>T (p.Ser196=) rs755278391 0.00001
NM_016729.3(FOLR1):c.678G>A (p.Ala226=) rs531930335 0.00001
NM_016938.5(EFEMP2):c.639C>T (p.Cys213=) rs199606204 0.00001
NM_017534.6(MYH2):c.1251C>A (p.Gly417=) rs746987085 0.00001
NM_017534.6(MYH2):c.2305-11T>G rs369500791 0.00001
NM_017534.6(MYH2):c.3263+11A>G rs890845570 0.00001
NM_017534.6(MYH2):c.688C>T (p.Leu230=) rs375063863 0.00001
NM_017636.4(TRPM4):c.1473A>G (p.Leu491=) rs142739227 0.00001
NM_017636.4(TRPM4):c.2229G>A (p.Glu743=) rs745667706 0.00001
NM_017636.4(TRPM4):c.2231A>T (p.Lys744Met) rs569301210 0.00001
NM_017636.4(TRPM4):c.2403G>T (p.Leu801=) rs1455410186 0.00001
NM_017636.4(TRPM4):c.291G>A (p.Thr97=) rs886054576 0.00001
NM_017636.4(TRPM4):c.3489A>G (p.Gly1163=) rs760190293 0.00001
NM_017636.4(TRPM4):c.837T>C (p.Asp279=) rs373391017 0.00001
NM_017780.4(CHD7):c.6321C>T (p.His2107=) rs778800676 0.00001
NM_017875.4(SLC25A38):c.288A>G (p.Arg96=) rs765578993 0.00001
NM_018100.4(EFHC1):c.1194T>C (p.Phe398=) rs201946033 0.00001
NM_018344.6(SLC29A3):c.138C>T (p.Pro46=) rs374417695 0.00001
NM_018344.6(SLC29A3):c.624C>T (p.Gly208=) rs757865136 0.00001
NM_018344.6(SLC29A3):c.804T>C (p.His268=) rs896755457 0.00001
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=) rs747318789 0.00001
NM_018389.5(SLC35C1):c.666G>A (p.Ala222=) rs754930082 0.00001
NM_018389.5(SLC35C1):c.837C>T (p.Ala279=) rs371692301 0.00001
NM_018418.5(SPATA7):c.19+7G>A rs199560035 0.00001
NM_018418.5(SPATA7):c.372+11A>G rs757636745 0.00001
NM_018714.3(COG1):c.2682C>T (p.Asn894=) rs781686684 0.00001
NM_019892.6(INPP5E):c.1530C>T (p.Leu510=) rs780119172 0.00001
NM_019892.6(INPP5E):c.1686C>T (p.Ser562=) rs760729838 0.00001
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221 0.00001
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=) rs747015041 0.00001
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=) rs201782543 0.00001
NM_020166.5(MCCC1):c.9G>A (p.Ala3=) rs1191355416 0.00001
NM_020297.4(ABCC9):c.1659+10T>C rs201753781 0.00001
NM_020297.4(ABCC9):c.1875G>A (p.Ser625=) rs727502873 0.00001
NM_020297.4(ABCC9):c.2199-6T>C rs535477725 0.00001
NM_020297.4(ABCC9):c.3669+10T>C rs199640712 0.00001
NM_020297.4(ABCC9):c.4103-14T>C rs1462468885 0.00001
NM_020366.4(RPGRIP1):c.3239-14C>T rs542859849 0.00001
NM_020376.4(PNPLA2):c.1491C>T (p.Pro497=) rs1434319423 0.00001
NM_020376.4(PNPLA2):c.781T>C (p.Leu261=) rs758918583 0.00001
NM_020376.4(PNPLA2):c.912C>A (p.Leu304=) rs886048710 0.00001
NM_020533.3(MCOLN1):c.1458C>A (p.Arg486=) rs1453967813 0.00001
NM_020533.3(MCOLN1):c.1707-7C>T rs371588106 0.00001
NM_020533.3(MCOLN1):c.189C>T (p.Pro63=) rs1182165362 0.00001
NM_020533.3(MCOLN1):c.32-12C>A rs1372906524 0.00001
NM_020533.3(MCOLN1):c.429A>G (p.Ser143=) rs777036069 0.00001
NM_020533.3(MCOLN1):c.558G>A (p.Pro186=) rs773903184 0.00001
NM_020533.3(MCOLN1):c.777+13G>A rs775042317 0.00001
NM_020533.3(MCOLN1):c.78G>A (p.Ala26=) rs746629838 0.00001
NM_020686.6(ABAT):c.1431G>A (p.Thr477=) rs573157071 0.00001
NM_020686.6(ABAT):c.285T>C (p.Asp95=) rs917180192 0.00001
NM_020686.6(ABAT):c.387C>T (p.Pro129=) rs759203240 0.00001
NM_020686.6(ABAT):c.978C>T (p.Asp326=) rs201727625 0.00001
NM_020919.4(ALS2):c.1640+10A>G rs755148474 0.00001
NM_020975.6(RET):c.1264-8C>T rs769595884 0.00001
NM_020975.6(RET):c.1890C>T (p.Cys630=) rs781145070 0.00001
NM_020975.6(RET):c.2538C>T (p.Leu846=) rs201816539 0.00001
NM_021625.5(TRPV4):c.2439C>T (p.Thr813=) rs545589086 0.00001
NM_021922.3(FANCE):c.216G>T (p.Pro72=) rs886061328 0.00001
NM_021957.4(GYS2):c.1230-5T>G rs777032042 0.00001
NM_022041.4(GAN):c.1017G>A (p.Gln339=) rs201451382 0.00001
NM_022041.4(GAN):c.471G>A (p.Leu157=) rs143704621 0.00001
NM_022041.4(GAN):c.634-6C>T rs199874705 0.00001
NM_022041.4(GAN):c.801A>G (p.Lys267=) rs746799355 0.00001
NM_022041.4(GAN):c.806G>A (p.Arg269Gln) rs759581558 0.00001
NM_022042.4(SLC26A1):c.*876C>T rs546988577 0.00001
NM_022124.6(CDH23):c.2310C>T (p.Asp770=) rs886047131 0.00001
NM_022124.6(CDH23):c.4179C>T (p.Asp1393=) rs571668370 0.00001
NM_022124.6(CDH23):c.9108G>A (p.Glu3036=) rs768198017 0.00001
NM_022124.6(CDH23):c.960C>T (p.Asn320=) rs756644736 0.00001
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210 0.00001
NM_022132.5(MCCC2):c.330C>T (p.Asp110=) rs201872484 0.00001
NM_022367.4(SEMA4A):c.2106C>T (p.Leu702=) rs772147085 0.00001
NM_024079.5(ALG8):c.1460A>G (p.Tyr487Cys) rs777557874 0.00001
NM_024105.4(ALG12):c.117G>A (p.Leu39=) rs371814322 0.00001
NM_024105.4(ALG12):c.933C>T (p.Arg311=) rs779215527 0.00001
NM_024422.6(DSC2):c.2126-11T>C rs1283105269 0.00001
NM_024422.6(DSC2):c.2430G>A (p.Arg810=) rs755276378 0.00001
NM_024529.5(CDC73):c.1011C>T (p.Ala337=) rs372567546 0.00001
NM_024570.4(RNASEH2B):c.897C>A (p.Thr299=) rs886050291 0.00001
NM_024589.3(ROGDI):c.507C>T (p.Pro169=) rs767771299 0.00001
NM_024589.3(ROGDI):c.753C>T (p.Ile251=) rs144581570 0.00001
NM_025099.6(CTC1):c.1500C>T (p.Pro500=) rs761750183 0.00001
NM_025099.6(CTC1):c.1548G>A (p.Pro516=) rs781000475 0.00001
NM_025099.6(CTC1):c.2439G>A (p.Pro813=) rs200759730 0.00001
NM_025099.6(CTC1):c.3190A>G (p.Thr1064Ala) rs777357385 0.00001
NM_025137.4(SPG11):c.39C>T (p.Ala13=) rs759646328 0.00001
NM_025137.4(SPG11):c.5595A>G (p.Thr1865=) rs375403626 0.00001
NM_025137.4(SPG11):c.5598C>T (p.Cys1866=) rs570599267 0.00001
NM_025137.4(SPG11):c.581C>T (p.Pro194Leu) rs573482671 0.00001
NM_025137.4(SPG11):c.6726A>G (p.Gln2242=) rs376245210 0.00001
NM_025137.4(SPG11):c.7258T>A (p.Phe2420Ile) rs779900397 0.00001
NM_025243.4(SLC19A3):c.861C>T (p.Phe287=) rs764867524 0.00001
NM_030777.4(SLC2A10):c.1032C>T (p.Asp344=) rs1301992983 0.00001
NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=) rs201159437 0.00001
NM_030777.4(SLC2A10):c.432C>T (p.Thr144=) rs371344477 0.00001
NM_030777.4(SLC2A10):c.810G>C (p.Val270=) rs774452914 0.00001
NM_031885.5(BBS2):c.327G>A (p.Ser109=) rs770497817 0.00001
NM_031885.5(BBS2):c.534+7G>C rs886052149 0.00001
NM_032043.3(BRIP1):c.612C>G (p.Ser204=) rs587780832 0.00001
NM_032193.4(RNASEH2C):c.173-14G>A rs886048502 0.00001
NM_032520.5(GNPTG):c.297C>T (p.Asn99=) rs201045559 0.00001
NM_032634.4(PIGO):c.1416A>T (p.Ala472=) rs749630366 0.00001
NM_032634.4(PIGO):c.2874G>C (p.Leu958=) rs1269359376 0.00001
NM_032977.4(CASP10):c.442-14T>G rs755555484 0.00001
NM_032977.4(CASP10):c.81T>C (p.Ile27=) rs751728796 0.00001
NM_033159.4(HYAL1):c.630T>C (p.Tyr210=) rs781838448 0.00001
NM_033305.3(VPS13A):c.927A>G (p.Ala309=) rs749004984 0.00001
NM_052813.5(CARD9):c.549C>T (p.Tyr183=) rs528585158 0.00001
NM_052845.4(MMAB):c.522G>A (p.Ser174=) rs545625368 0.00001
NM_052859.4(RFT1):c.201C>T (p.Arg67=) rs954135080 0.00001
NM_053013.4(ENO3):c.363G>A (p.Ala121=) rs201872558 0.00001
NM_053025.4(MYLK):c.1630C>T (p.Arg544Trp) rs552998417 0.00001
NM_053025.4(MYLK):c.1745C>A (p.Thr582Asn) rs749069560 0.00001
NM_053025.4(MYLK):c.2604C>T (p.Asp868=) rs372924929 0.00001
NM_053025.4(MYLK):c.3336C>A (p.Gly1112=) rs1060504648 0.00001
NM_053025.4(MYLK):c.3372C>T (p.Asp1124=) rs774568740 0.00001
NM_053025.4(MYLK):c.3900G>A (p.Ala1300=) rs563116446 0.00001
NM_053025.4(MYLK):c.5703G>A (p.Thr1901=) rs540804249 0.00001
NM_054012.4(ASS1):c.1083C>T (p.Leu361=) rs78564724 0.00001
NM_058216.3(RAD51C):c.404+7T>C rs1350153132 0.00001
NM_058216.3(RAD51C):c.435A>G (p.Pro145=) rs555235745 0.00001
NM_058246.4(DNAJB6):c.723G>A (p.Glu241=) rs886062129 0.00001
NM_080424.4(SP110):c.711C>T (p.Asp237=) rs1167489264 0.00001
NM_080680.3(COL11A2):c.2416C>T (p.Arg806Cys) rs376355040 0.00001
NM_080680.3(COL11A2):c.453T>C (p.Arg151=) rs147115504 0.00001
NM_080680.3(COL11A2):c.4951G>A (p.Val1651Ile) rs766589324 0.00001
NM_133259.4(LRPPRC):c.2385C>T (p.Gly795=) rs886056056 0.00001
NM_133259.4(LRPPRC):c.3641A>G (p.Gln1214Arg) rs140482502 0.00001
NM_133433.4(NIPBL):c.3660G>A (p.Ala1220=) rs143252734 0.00001
NM_133433.4(NIPBL):c.7411-15G>A rs374348403 0.00001
NM_133642.5(LARGE1):c.1005+15T>G rs1414312676 0.00001
NM_133642.5(LARGE1):c.492-6C>G rs762612242 0.00001
NM_138694.4(PKHD1):c.1693+10G>A rs886061621 0.00001
NM_138694.4(PKHD1):c.192C>T (p.Asn64=) rs148089143 0.00001
NM_138694.4(PKHD1):c.5160C>T (p.Asp1720=) rs754333450 0.00001
NM_138694.4(PKHD1):c.5601-8C>T rs578030952 0.00001
NM_138694.4(PKHD1):c.6054C>T (p.Tyr2018=) rs774944622 0.00001
NM_138694.4(PKHD1):c.7733+15C>A rs771759749 0.00001
NM_138694.4(PKHD1):c.8181C>G (p.Thr2727=) rs759658629 0.00001
NM_139276.3(STAT3):c.657T>C (p.Ser219=) rs886052943 0.00001
NM_139343.3(BIN1):c.1092C>T (p.Asp364=) rs745647728 0.00001
NM_139343.3(BIN1):c.1675-7C>T rs372449622 0.00001
NM_139343.3(BIN1):c.698+15G>A rs535176915 0.00001
NM_144599.5(NIPA1):c.267G>A (p.Ala89=) rs751391752 0.00001
NM_144687.4(NLRP12):c.2244-14C>T rs866055657 0.00001
NM_144687.4(NLRP12):c.654G>A (p.Ala218=) rs745766441 0.00001
NM_144687.4(NLRP12):c.861G>A (p.Glu287=) rs765562062 0.00001
NM_148919.4(PSMB8):c.686G>A (p.Arg229His) rs547653681 0.00001
NM_152269.5(MTRFR):c.90G>A (p.Thr30=) rs775127232 0.00001
NM_152296.5(ATP1A3):c.1303-15C>A rs782749835 0.00001
NM_152296.5(ATP1A3):c.2307C>T (p.Thr769=) rs886054473 0.00001
NM_152296.5(ATP1A3):c.2418+9T>A rs950336124 0.00001
NM_152296.5(ATP1A3):c.936C>A (p.Ile312=) rs782140994 0.00001
NM_152383.5(DIS3L2):c.1425+13A>G rs565049855 0.00001
NM_152383.5(DIS3L2):c.1809G>A (p.Glu603=) rs748787779 0.00001
NM_152383.5(DIS3L2):c.2151C>T (p.Ala717=) rs747739911 0.00001
NM_152383.5(DIS3L2):c.2394C>T (p.Asn798=) rs773602107 0.00001
NM_152383.5(DIS3L2):c.2637C>T (p.Pro879=) rs376299829 0.00001
NM_152564.5(VPS13B):c.10237G>T (p.Ala3413Ser) rs79324124 0.00001
NM_152564.5(VPS13B):c.2244T>C (p.Asp748=) rs146450992 0.00001
NM_152564.5(VPS13B):c.5472G>A (p.Met1824Ile) rs771916272 0.00001
NM_152564.5(VPS13B):c.6591C>T (p.Ser2197=) rs774730061 0.00001
NM_152564.5(VPS13B):c.6866-14C>A rs1277958075 0.00001
NM_152564.5(VPS13B):c.7716A>G (p.Val2572=) rs981350121 0.00001
NM_152564.5(VPS13B):c.8361+12C>T rs886062546 0.00001
NM_152564.5(VPS13B):c.8958T>G (p.Val2986=) rs753530965 0.00001
NM_152564.5(VPS13B):c.9339T>A (p.Arg3113=) rs78277780 0.00001
NM_152564.5(VPS13B):c.9603A>G (p.Gly3201=) rs564362618 0.00001
NM_152783.5(D2HGDH):c.1446G>A (p.Lys482=) rs763276027 0.00001
NM_152783.5(D2HGDH):c.963C>T (p.Val321=) rs141524359 0.00001
NM_153603.4(COG7):c.687+14C>T rs139853094 0.00001
NM_170707.4(LMNA):c.514-11C>T rs886045365 0.00001
NM_177438.3(DICER1):c.5010A>G (p.Glu1670=) rs886050940 0.00001
NM_177438.3(DICER1):c.5365-9C>T rs778669119 0.00001
NM_182760.4(SUMF1):c.30T>C (p.Cys10=) rs746169425 0.00001
NM_182760.4(SUMF1):c.447T>C (p.Ala149=) rs750372409 0.00001
NM_182760.4(SUMF1):c.45G>A (p.Glu15=) rs1460272243 0.00001
NM_182894.3(VSX2):c.371-14C>T rs750778630 0.00001
NM_182914.3(SYNE2):c.16605+10A>G rs761193543 0.00001
NM_182914.3(SYNE2):c.16854G>A (p.Val5618=) rs1490325276 0.00001
NM_182914.3(SYNE2):c.17832G>A (p.Ala5944=) rs886050596 0.00001
NM_182914.3(SYNE2):c.18015T>C (p.His6005=) rs1323946751 0.00001
NM_182914.3(SYNE2):c.3102C>T (p.Ser1034=) rs886050580 0.00001
NM_182914.3(SYNE2):c.5835A>G (p.Leu1945=) rs766666230 0.00001
NM_198525.3(KIF7):c.1218C>G (p.Gly406=) rs886051536 0.00001
NM_198525.3(KIF7):c.3112-10G>A rs370548253 0.00001
NM_198525.3(KIF7):c.3477G>A (p.Glu1159=) rs886192389 0.00001
NM_198525.3(KIF7):c.3894G>A (p.Ala1298=) rs370333561 0.00001
NM_198525.3(KIF7):c.3957G>T (p.Gly1319=) rs886051529 0.00001
NM_198904.4(GABRG2):c.1172G>A (p.Arg391His) rs528036202 0.00001
NM_198904.4(GABRG2):c.1389G>A (p.Leu463=) rs765904792 0.00001
NM_198904.4(GABRG2):c.769+10A>G rs765703079 0.00001
NM_199242.3(UNC13D):c.156G>T (p.Arg52=) rs111728477 0.00001
NM_199242.3(UNC13D):c.3141C>A (p.Pro1047=) rs866899109 0.00001
NM_206937.2(LIG4):c.1020A>G (p.Gln340=) rs535025599 0.00001
NM_206937.2(LIG4):c.1239A>G (p.Glu413=) rs1342090676 0.00001
NM_206937.2(LIG4):c.1710T>C (p.Tyr570=) rs763222026 0.00001
NM_206937.2(LIG4):c.713T>C (p.Ile238Thr) rs201289944 0.00001
NM_213599.3(ANO5):c.1801-9T>C rs202034123 0.00001
NM_213599.3(ANO5):c.2139C>T (p.Thr713=) rs767479331 0.00001
NM_000016.6(ACADM):c.624T>C (p.Asp208=) rs886046523
NM_000018.4(ACADVL):c.1215C>T (p.Asp405=) rs2071338251
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.180G>C (p.Leu60=) rs886053372
NM_000019.4(ACAT1):c.15G>C (p.Ala5=) rs886047594
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000019.4(ACAT1):c.941-13T>C rs760991373
NM_000022.4(ADA):c.445C>A (p.Arg149=) rs121908733
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=) rs782250326
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=) rs141446687
NM_000035.4(ALDOB):c.178C>A (p.Arg60=) rs118204429
NM_000035.4(ALDOB):c.282C>T (p.Phe94=) rs549682194
NM_000035.4(ALDOB):c.375T>C (p.Ile125=) rs886063292
NM_000035.4(ALDOB):c.486C>G (p.Leu162=) rs773334784
NM_000035.4(ALDOB):c.486C>T (p.Leu162=) rs773334784
NM_000037.4(ANK1):c.3829G>A (p.Val1277Met) rs148942046
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=) rs149859024
NM_000037.4(ANK1):c.965G>T (p.Arg322Leu) rs183864227
NM_000038.6(APC):c.*210_*213del rs763673039
NM_000038.6(APC):c.2547T>C (p.Asp849=) rs766086010
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly) rs72541813
NM_000038.6(APC):c.777G>T (p.Arg259=) rs147704593
NM_000043.6(FAS):c.432C>T (p.Asp144=) rs574338716
NM_000045.4(ARG1):c.804G>C (p.Gly268=) rs747275658
NM_000045.4(ARG1):c.936C>T (p.His312=) rs776119677
NM_000046.5(ARSB):c.1214-15A>T rs1353542088
NM_000048.4(ASL):c.1395G>A (p.Ter465=) rs1339615185
NM_000048.4(ASL):c.486G>A (p.Gln162=) rs1786669549
NM_000051.4(ATM):c.2251-14T>A rs751677125
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2945G>A (p.Arg982His) rs749471737
NM_000051.4(ATM):c.3284+8dup rs886047611
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.4(ATM):c.4299T>C (p.Tyr1433=) rs886047612
NM_000051.4(ATM):c.5005+15T>A rs377355762
NM_000051.4(ATM):c.6453-15C>T rs763296454
NM_000053.4(ATP7B):c.2286A>T (p.Thr762=) rs750477816
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000053.4(ATP7B):c.2997C>T (p.Thr999=) rs199581971
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly) rs557577836
NM_000053.4(ATP7B):c.4185G>C (p.Leu1395=) rs368801566
NM_000057.4(BLM):c.4251A>C (p.Ser1417=) rs886051553
NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser) rs80358418
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu) rs56390402
NM_000059.4(BRCA2):c.2526A>G (p.Val842=) rs770778164
NM_000059.4(BRCA2):c.6237G>A (p.Val2079=) rs864622516
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=) rs587780871
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_000059.4(BRCA2):c.9606G>A (p.Pro3202=) rs755890067
NM_000070.3(CAPN3):c.1002C>T (p.His334=) rs374833797
NM_000070.3(CAPN3):c.1227A>T (p.Thr409=) rs111806046
NM_000070.3(CAPN3):c.1251G>A (p.Thr417=) rs151090625
NM_000070.3(CAPN3):c.1902G>A (p.Lys634=) rs2054086848
NM_000070.3(CAPN3):c.2088C>T (p.Ser696=) rs867628179
NM_000070.3(CAPN3):c.618G>A (p.Glu206=) rs541597520
NM_000071.3(CBS):c.1017C>T (p.Ile339=) rs773933333
NM_000071.3(CBS):c.1146-6C>T rs1981696579
NM_000071.3(CBS):c.612G>T (p.Val204=) rs539670390
NM_000073.3(CD3G):c.243T>C (p.Pro81=) rs200028255
NM_000079.4(CHRNA1):c.1248G>A (p.Ala416=) rs17838545
NM_000081.4(LYST):c.10341G>A (p.Glu3447=)
NM_000081.4(LYST):c.10740G>A (p.Leu3580=)
NM_000081.4(LYST):c.11076C>T (p.Asn3692=)
NM_000081.4(LYST):c.11229A>G (p.Arg3743=)
NM_000081.4(LYST):c.1722A>G (p.Leu574=)
NM_000081.4(LYST):c.1725G>A (p.Ser575=)
NM_000081.4(LYST):c.244C>T (p.Leu82=)
NM_000081.4(LYST):c.3712+12T>C
NM_000081.4(LYST):c.372A>G (p.Leu124=)
NM_000081.4(LYST):c.4053A>G (p.Ser1351=)
NM_000081.4(LYST):c.5461-14A>T
NM_000081.4(LYST):c.5583T>C (p.Ile1861=)
NM_000081.4(LYST):c.5634+11A>G
NM_000081.4(LYST):c.6673C>T (p.Arg2225Cys)
NM_000081.4(LYST):c.6744A>G (p.Leu2248=)
NM_000081.4(LYST):c.8152-8G>A
NM_000081.4(LYST):c.8742A>G (p.Lys2914=)
NM_000081.4(LYST):c.9162+15A>G
NM_000081.4(LYST):c.9244T>C (p.Leu3082=)
NM_000081.4(LYST):c.9969C>T (p.His3323=)
NM_000081.4(LYST):c.9990G>A (p.Ala3330=)
NM_000088.4(COL1A1):c.*1026_*1028del rs751268781
NM_000088.4(COL1A1):c.*242_*244dup rs56302025
NM_000088.4(COL1A1):c.*243_*244dup rs56302025
NM_000090.4(COL3A1):c.2364A>G (p.Pro788=) rs886055332
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=) rs777361888
NM_000090.4(COL3A1):c.3165C>T (p.Val1055=) rs1576471851
NM_000090.4(COL3A1):c.583-7T>C rs886055330
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala) rs141505320
NM_000108.5(DLD):c.1465-7C>G rs886061908
NM_000108.5(DLD):c.30C>A (p.Ser10=) rs779166996
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=) rs1057515818
NM_000126.4(ETFA):c.351+12G>A rs2039773989
NM_000126.4(ETFA):c.366A>G (p.Arg122=) rs2039718120
NM_000126.4(ETFA):c.66C>T (p.Thr22=) rs370375322
NM_000126.4(ETFA):c.882+10C>T rs2039064081
NM_000130.5(F5):c.111T>A (p.Ala37=) rs537081933
NM_000135.4(FANCA):c.1143G>A (p.Thr381=) rs1800331
NM_000135.4(FANCA):c.1471-10C>G rs368356709
NM_000135.4(FANCA):c.1518C>T (p.Leu506=) rs781524409
NM_000135.4(FANCA):c.1901-9T>G rs886052486
NM_000135.4(FANCA):c.2015-4G>T rs373954227
NM_000135.4(FANCA):c.2316+9C>T rs776301232
NM_000135.4(FANCA):c.284-9G>C rs367672895
NM_000135.4(FANCA):c.3267C>T (p.Val1089=) rs994416299
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=) rs886052482
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys) rs751309143
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.3825A>G (p.Ser1275=) rs886052480
NM_000135.4(FANCA):c.402T>C (p.Pro134=) rs745666586
NM_000135.4(FANCA):c.4056C>T (p.Ala1352=) rs2062057880
NM_000135.4(FANCA):c.4128T>C (p.Val1376=) rs1209384219
NM_000137.4(FAH):c.1152G>T (p.Leu384=) rs886051497
NM_000137.4(FAH):c.147C>G (p.Leu49=) rs886051496
NM_000137.4(FAH):c.249G>A (p.Val83=) rs370095143
NM_000137.4(FAH):c.455+9T>C rs531129429
NM_000137.4(FAH):c.90G>C (p.Pro30=) rs202195651
NM_000138.5(FBN1):c.2031T>A (p.Ala677=) rs762312642
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.5788+4C>A rs577301285
NM_000138.5(FBN1):c.6801C>T (p.Asn2267=) rs886051245
NM_000138.5(FBN1):c.723G>A (p.Thr241=) rs757264206
NM_000138.5(FBN1):c.8011C>T (p.Leu2671=) rs886051244
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln) rs370096856
NM_000141.5(FGFR2):c.110-22TC[3] rs773932794
NM_000141.5(FGFR2):c.714G>A (p.Gly238=) rs1276387170
NM_000143.4(FH):c.1237-50TC[21] rs144131869
NM_000147.5(FUCA1):c.389+15G>C rs1395597191
NM_000147.5(FUCA1):c.489T>C (p.Asp163=) rs1639604269
NM_000147.5(FUCA1):c.4C>A (p.Arg2=) rs2070955
NM_000151.4(G6PC1):c.230+11T>C rs756151664
NM_000151.4(G6PC1):c.993G>C (p.Ala331=) rs369238258
NM_000152.5(GAA):c.1076-15G>C rs370414054
NM_000152.5(GAA):c.1638G>A (p.Gly546=) rs1260256483
NM_000152.5(GAA):c.1734C>T (p.Thr578=) rs149384771
NM_000152.5(GAA):c.1889-5C>T rs794727115
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2790C>T (p.Pro930=) rs2039418269
NM_000152.5(GAA):c.2800-9C>G rs886053547
NM_000152.5(GAA):c.531C>T (p.Asn177=) rs886053544
NM_000152.5(GAA):c.858+10C>T rs758283022
NM_000153.4(GALC):c.329-10_329-8del rs770389075
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000154.2(GALK1):c.396A>G (p.Ser132=) rs766401384
NM_000154.2(GALK1):c.787C>T (p.Leu263=) rs886053420
NM_000155.4(GALT):c.450T>A (p.Val150=) rs886063884
NM_000158.4(GBE1):c.1842T>A (p.Ile614=) rs774354874
NM_000158.4(GBE1):c.969T>C (p.Asp323=) rs555689284
NM_000161.3(GCH1):c.507G>C (p.Ala169=) rs150158277
NM_000162.5(GCK):c.680-14G>C rs577968084
NM_000170.3(GLDC):c.1554G>C (p.Pro518=) rs377219563
NM_000170.3(GLDC):c.190G>T (p.Ala64Ser) rs141601131
NM_000170.3(GLDC):c.2148C>T (p.Leu716=) rs367750112
NM_000170.3(GLDC):c.861+11C>G rs757254927
NM_000178.4(GSS):c.1260C>G (p.Val420=) rs369657861
NM_000179.3(MSH6):c.249T>G (p.Ala83=) rs876658308
NM_000179.3(MSH6):c.3259C>A (p.Pro1087Thr) rs63750998
NM_000181.4(GUSB):c.45G>A (p.Leu15=) rs886062404
NM_000186.4(CFH):c.2956+13G>A rs572034879
NM_000186.4(CFH):c.3134-5T>C rs513699
NM_000186.4(CFH):c.7C>G (p.Leu3Val) rs139254423
NM_000187.4(HGD):c.474G>A (p.Pro158=) rs2293734
NM_000187.4(HGD):c.880-4A>G rs781667761
NM_000191.3(HMGCL):c.630C>T (p.Thr210=) rs886046313
NM_000191.3(HMGCL):c.708C>T (p.Asp236=) rs886046312
NM_000191.3(HMGCL):c.750+14T>A rs778868742
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=) rs781770416
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=) rs114527791
NM_000199.5(SGSH):c.506+13G>T rs201177560
NM_000199.5(SGSH):c.658G>T (p.Val220Leu) rs150508741
NM_000199.5(SGSH):c.981G>A (p.Ser327=) rs143223388
NM_000203.5(IDUA):c.1650+12T>C rs1715248390
NM_000203.5(IDUA):c.1651-10C>T rs548878643
NM_000203.5(IDUA):c.1651-7C>A rs934115207
NM_000203.5(IDUA):c.1727+9G>T rs771420258
NM_000203.5(IDUA):c.793-9C>T rs375798875
NM_000203.5(IDUA):c.837C>T (p.Val279=) rs758749484
NM_000211.5(ITGB2):c.1084-5C>T rs781696813
NM_000211.5(ITGB2):c.1464G>A (p.Arg488=) rs202051683
NM_000211.5(ITGB2):c.1944G>A (p.Pro648=) rs139840790
NM_000211.5(ITGB2):c.1968C>T (p.Pro656=) rs766106686
NM_000211.5(ITGB2):c.591G>A (p.Glu197=) rs768833543
NM_000212.3(ITGB3):c.2328C>T (p.Ala776=) rs563420692
NM_000214.3(JAG1):c.*1531TG[1] rs765273169
NM_000214.3(JAG1):c.*959GTTT[2] rs748163677
NM_000214.3(JAG1):c.294C>G (p.Ser98=) rs79338570
NM_000215.4(JAK3):c.1786+13C>T rs781208496
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000215.4(JAK3):c.297G>A (p.Leu99=) rs3212716
NM_000215.4(JAK3):c.648G>T (p.Thr216=) rs200376035
NM_000215.4(JAK3):c.938G>A (p.Gly313Glu) rs200319694
NM_000218.3(KCNQ1):c.1251+13C>T rs201364493
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) rs11601907
NM_000222.3(KIT):c.1185C>A (p.Ser395=) rs755864184
NM_000231.3(SGCG):c.*136T>A rs3751372
NM_000235.4(LIPA):c.230-15A>G rs199978109
NM_000235.4(LIPA):c.615C>T (p.Ser205=) rs143930279
NM_000235.4(LIPA):c.676-14T>A rs886047471
NM_000243.3(MEFV):c.1522C>T (p.Leu508=) rs199937453
NM_000243.3(MEFV):c.330G>A (p.Leu110=) rs104895177
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr) rs147557169
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu) rs777009752
NM_000243.3(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.3(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000246.4(CIITA):c.2148C>T (p.Phe716=) rs762483007
NM_000246.4(CIITA):c.2832G>T (p.Ser944=) rs766538754
NM_000246.4(CIITA):c.3123G>C (p.Ser1041=) rs138925894
NM_000246.4(CIITA):c.366A>T (p.Ile122=) rs535705691
NM_000246.4(CIITA):c.492C>G (p.Pro164=) rs142478532
NM_000249.3(MLH1):c.-107C>G rs587778886
NM_000249.4(MLH1):c.1266C>T (p.Gly422=) rs63750791
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000251.2(MSH2):c.-68G>A rs576303132
NM_000254.3(MTR):c.742G>A (p.Val248Met) rs142648132
NM_000257.4(MYH7):c.5394C>T (p.Asp1798=) rs777053791
NM_000257.4(MYH7):c.895+12C>A rs186276057
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000262.3(NAGA):c.486C>G (p.Pro162=) rs760003063
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000264.5(PTCH1):c.247T>C (p.Phe83Leu) rs1263611523
NM_000264.5(PTCH1):c.2703+12G>A rs1295275193
NM_000264.5(PTCH1):c.3765C>A (p.Ile1255=) rs758229027
NM_000264.5(PTCH1):c.63C>T (p.Ile21=) rs1284183739
NM_000268.4(NF2):c.150G>A (p.Val50=) rs1601578932
NM_000270.4(PNP):c.159C>A (p.Ile53=) rs367991537
NM_000271.5(NPC1):c.180+13T>C rs556162692
NM_000271.5(NPC1):c.1947+11_1947+12insGGC rs547107514
NM_000271.5(NPC1):c.1947+12G>C rs886053666
NM_000271.5(NPC1):c.1947+13G>T rs568769965
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.5(NPC1):c.2973G>A (p.Gln991=) rs201118975
NM_000271.5(NPC1):c.3321C>A (p.Gly1107=) rs376210355
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.984C>T (p.Ser328=) rs760861487
NM_000274.4(OAT):c.123T>C (p.Asp41=) rs376051303
NM_000275.3(OCA2):c.2208G>T (p.Ser736=) rs1800418
NM_000282.4(PCCA):c.1953G>A (p.Leu651=) rs765771203
NM_000282.4(PCCA):c.2017G>C (p.Val673Leu) rs142646074
NM_000282.4(PCCA):c.42C>T (p.Ala14=) rs200714802
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771
NM_000288.4(PEX7):c.130+11G>T rs886061119
NM_000288.4(PEX7):c.130+13C>A rs886061120
NM_000289.6(PFKM):c.1063-7C>T rs776228408
NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile) rs199869174
NM_000294.3(PHKG2):c.271+14C>T rs572169140
NM_000294.3(PHKG2):c.556+11C>G rs2053379816
NM_000294.3(PHKG2):c.96-7C>G rs898984695
NM_000295.5(SERPINA1):c.1095C>T (p.Asp365=) rs201774333
NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg) rs112030253
NM_000295.5(SERPINA1):c.514G>T (p.Gly172Trp) rs112030253
NM_000295.5(SERPINA1):c.552C>T (p.Tyr184=) rs199422210
NM_000302.4(PLOD1):c.1686G>A (p.Thr562=) rs565216977
NM_000302.4(PLOD1):c.169-11T>C rs760584840
NM_000303.3(PMM2):c.347+15A>C rs751222355
NM_000303.3(PMM2):c.552T>C (p.Pro184=) rs560182098
NM_000308.4(CTSA):c.54G>C (p.Leu18=) rs181943893
NM_000310.4(PPT1):c.234+8G>A rs746750426
NM_000310.4(PPT1):c.690C>T (p.Phe230=) rs1648754113
NM_000310.4(PPT1):c.705T>C (p.Ile235=) rs1057515448
NM_000310.4(PPT1):c.894T>C (p.Tyr298=) rs781759073
NM_000314.8(PTEN):c.-735G>A rs886047384
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000320.3(QDPR):c.296-15G>T rs776479029
NM_000320.3(QDPR):c.297T>C (p.Ser99=) rs1309099253
NM_000321.3(RB1):c.1422-4T>G rs201554179
NM_000321.3(RB1):c.616T>C (p.Leu206=) rs886050270
NM_000334.4(SCN4A):c.1560G>C (p.Pro520=) rs373819078
NM_000340.2(SLC2A2):c.593C>T (p.Thr198Met) rs149460434
NM_000341.4(SLC3A1):c.1200A>G (p.Pro400=) rs886056069
NM_000349.3(STAR):c.120G>A (p.Leu40=) rs138786388
NM_000350.3(ABCA4):c.1356+14dup rs886046567
NM_000350.3(ABCA4):c.1460G>A (p.Arg487Gln) rs145614671
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) rs138475920
NM_000350.3(ABCA4):c.468C>T (p.Ile156=) rs148091207
NM_000350.3(ABCA4):c.5640T>A (p.Phe1880Leu) rs374811709
NM_000350.3(ABCA4):c.618C>T (p.Ser206=) rs61748536
NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=) rs61751379
NM_000350.3(ABCA4):c.6693C>T (p.Ile2231=) rs1801626
NM_000350.3(ABCA4):c.677G>A (p.Arg226His) rs144310835
NM_000350.3(ABCA4):c.791G>A (p.Arg264His) rs567985213
NM_000353.3(TAT):c.558C>T (p.Tyr186=) rs886052274
NM_000355.4(TCN2):c.1092G>A (p.Glu364=) rs886057397
NM_000355.4(TCN2):c.581-8A>G rs7290898
NM_000355.4(TCN2):c.810G>T (p.Ala270=) rs61748898
NM_000360.4(TH):c.1105-5C>G rs535794692
NM_000360.4(TH):c.1119G>A (p.Thr373=) rs143405115
NM_000360.4(TH):c.1170C>G (p.Ala390=) rs199839852
NM_000360.4(TH):c.1287A>C (p.Ser429=) rs1590165106
NM_000360.4(TH):c.202C>T (p.Leu68=) rs372393199
NM_000360.4(TH):c.81G>T (p.Glu27Asp) rs139742336
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000363.5(TNNI3):c.157C>T (p.Leu53=) rs763981651
NM_000368.5(TSC1):c.1734C>T (p.Thr578=) rs1251871091
NM_000368.5(TSC1):c.1751G>C (p.Ser584Thr) rs786203799
NM_000368.5(TSC1):c.2459A>G (p.Lys820Arg) rs1369700443
NM_000368.5(TSC1):c.2626-21_2626-19dup rs5901000
NM_000368.5(TSC1):c.519G>A (p.Ala173=) rs768999400
NM_000370.3(TTPA):c.36G>T (p.Pro12=) rs773911591
NM_000387.6(SLC25A20):c.105+7_105+10dup rs775942451
NM_000391.3(TPP1):c.-33C>G rs757508432
NM_000391.4(TPP1):c.*1216dup rs575737269
NM_000391.4(TPP1):c.887-6_887-5del rs886048541
NM_000391.4(TPP1):c.887-6del rs35039601
NM_000417.3(IL2RA):c.257-11A>G rs929482812
NM_000417.3(IL2RA):c.777C>A (p.Leu259=) rs554680869
NM_000419.5(ITGA2B):c.1014G>A (p.Leu338=) rs886053007
NM_000426.4(LAMA2):c.4222C>G (p.Arg1408Gly) rs780127363
NM_000426.4(LAMA2):c.9340G>A (p.Val3114Ile) rs200796753
NM_000432.4(MYL2):c.402+8G>T rs886048959
NM_000433.4(NCF2):c.1291-15C>G rs886045654
NM_000435.3(NOTCH3):c.120C>T (p.Ala40=) rs146904189
NM_000439.5(PCSK1):c.-96C>T rs35753085
NM_000441.2(SLC26A4):c.2320-4A>G rs727503432
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=) rs370020280
NM_000455.5(STK11):c.464+14G>A rs587782421
NM_000455.5(STK11):c.618G>C (p.Ala206=) rs370976710
NM_000455.5(STK11):c.69C>T (p.Asp23=) rs1599914867
NM_000455.5(STK11):c.942T>C (p.Pro314=) rs1256260277
NM_000465.4(BARD1):c.*135_*138dup rs113789798
NM_000465.4(BARD1):c.215+13G>A rs886055601
NM_000465.4(BARD1):c.216-14T>C rs775103922
NM_000465.4(BARD1):c.45C>A (p.Arg15=) rs786201402
NM_000465.4(BARD1):c.903G>A (p.Glu301=) rs1694982551
NM_000465.4(BARD1):c.93C>G (p.Arg31=) rs778803692
NM_000466.3(PEX1):c.129+10C>T rs886062508
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.1804-12A>G rs143041528
NM_000466.3(PEX1):c.1901-14T>C rs1792111444
NM_000466.3(PEX1):c.3627C>T (p.Ser1209=) rs886062501
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000466.3(PEX1):c.96G>A (p.Pro32=) rs1445565547
NM_000478.6(ALPL):c.1557C>A (p.Pro519=) rs376020180
NM_000481.4(AMT):c.1112G>A (p.Arg371His) rs147006017
NM_000484.4(APP):c.819CAC[8] (p.Thr280dup) rs527890624
NM_000487.6(ARSA):c.1210+13C>T rs6151426
NM_000492.4(CFTR):c.1265C>T (p.Ser422Phe) rs201880593
NM_000492.4(CFTR):c.1365G>T (p.Ala455=) rs79074685
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000501.4(ELN):c.483C>A (p.Pro161=) rs150690195
NM_000506.5(F2):c.45G>A (p.Leu15=) rs886048333
NM_000507.4(FBP1):c.826-15G>T rs148942437
NM_000507.4(FBP1):c.826-7T>C rs1827646865
NM_000507.4(FBP1):c.835C>T (p.Leu279=) rs760291471
NM_000512.5(GALNS):c.1140-15C>T rs1910644710
NM_000512.5(GALNS):c.1410G>A (p.Ser470=) rs763263800
NM_000515.5(GH1):c.16C>A (p.Arg6=) rs140576665
NM_000515.5(GH1):c.363T>C (p.Ser121=) rs137882374
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000520.6(HEXA):c.1421+15G>C rs185764548
NM_000521.4(HEXB):c.1613+14del rs754704434
NM_000521.4(HEXB):c.670-14_670-13del rs886060751
NM_000525.4(KCNJ11):c.-559G>C rs547932593
NM_000527.4(LDLR):c.-97G>T rs944580031
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1863A>G (p.Thr621=) rs768509914
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.191-15C>G rs749245318
NM_000527.5(LDLR):c.2140+14C>T rs756150298
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.5(LDLR):c.2389+7G>A
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.817+9T>C
NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=) rs117880912
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=) rs762375074
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=) rs775200333
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=) rs774396746
NM_000528.4(MAN2B1):c.2267+8dup rs572289342
NM_000528.4(MAN2B1):c.285C>T (p.Ala95=) rs750997069
NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=) rs148108322
NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=) rs1376771729
NM_000528.4(MAN2B1):c.2991C>T (p.Ile997=) rs886054228
NM_000528.4(MAN2B1):c.639C>T (p.Phe213=) rs886054233
NM_000532.5(PCCB):c.1452A>G (p.Ala484=) rs781556055
NM_000532.5(PCCB):c.555G>C (p.Thr185=) rs543691110
NM_000536.4(RAG2):c.1391G>A (p.Arg464His) rs147748696
NM_000540.3(RYR1):c.10263G>A (p.Ala3421=) rs778171066
NM_000540.3(RYR1):c.10803C>A (p.Ala3601=) rs141542477
NM_000540.3(RYR1):c.10824+13G>A rs756468318
NM_000540.3(RYR1):c.11292C>T (p.Tyr3764=) rs886054401
NM_000540.3(RYR1):c.11907+8G>A rs886054402
NM_000540.3(RYR1):c.12084G>T (p.Ser4028=) rs571477269
NM_000540.3(RYR1):c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal) rs796065337
NM_000540.3(RYR1):c.12954G>A (p.Arg4318=) rs886054405
NM_000540.3(RYR1):c.13038T>C (p.Ala4346=) rs758223017
NM_000540.3(RYR1):c.13551C>T (p.Pro4517=) rs886054410
NM_000540.3(RYR1):c.1441-12T>C rs760987340
NM_000540.3(RYR1):c.3420C>G (p.Arg1140=) rs201599911
NM_000540.3(RYR1):c.3420C>T (p.Arg1140=) rs201599911
NM_000540.3(RYR1):c.4266C>T (p.Asp1422=) rs886054385
NM_000540.3(RYR1):c.4269C>G (p.Pro1423=) rs2229141
NM_000540.3(RYR1):c.4269C>T (p.Pro1423=) rs2229141
NM_000540.3(RYR1):c.4878C>T (p.Ala1626=) rs369466056
NM_000540.3(RYR1):c.5025G>C (p.Leu1675=) rs886054388
NM_000540.3(RYR1):c.537+12C>A rs779869638
NM_000540.3(RYR1):c.6023T>C (p.Met2008Thr) rs199947661
NM_000540.3(RYR1):c.7028-11C>G rs369342449
NM_000540.3(RYR1):c.7053T>C (p.Asn2351=) rs748167551
NM_000540.3(RYR1):c.7140C>T (p.Ile2380=) rs573431795
NM_000540.3(RYR1):c.7743T>C (p.Ser2581=) rs1477392994
NM_000540.3(RYR1):c.7836-6C>T rs780269941
NM_000540.3(RYR1):c.7878G>C (p.Leu2626=) rs148907377
NM_000540.3(RYR1):c.7927-7C>T rs886054395
NM_000540.3(RYR1):c.9513T>C (p.Ser3171=) rs1568524980
NM_000540.3(RYR1):c.9885C>G (p.Ala3295=) rs776468955
NM_000546.6(TP53):c.1093C>T (p.His365Tyr) rs267605075
NM_000546.6(TP53):c.145G>C (p.Asp49His) rs587780728
NM_000546.6(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000546.6(TP53):c.993+8G>A rs1060504163
NM_000553.6(WRN):c.210-8C>T rs1812609160
NM_000553.6(WRN):c.2166T>C (p.Asn722=) rs1334120731
NM_000553.6(WRN):c.2338G>A (p.Val780Ile) rs574787451
NM_000553.6(WRN):c.3078A>G (p.Gly1026=) rs886062892
NM_000553.6(WRN):c.3582G>A (p.Thr1194=) rs762685242
NM_000553.6(WRN):c.3819+14T>C rs886062894
NM_000553.6(WRN):c.3972C>T (p.Pro1324=) rs370253199
NM_000628.5(IL10RB):c.332-11C>T rs531765635
NM_000642.3(AGL):c.1326A>G (p.Glu442=) rs886044919
NM_000642.3(AGL):c.344T>C (p.Val115Ala) rs567992352
NM_000709.4(BCKDHA):c.441C>G (p.Ala147=) rs2039284438
NM_000709.4(BCKDHA):c.995+8C>T rs886054462
NM_000732.6(CD3D):c.450+7G>T rs201810356
NM_000733.4(CD3E):c.211G>C (p.Asp71His) rs148647954
NM_000751.3(CHRND):c.1455A>G (p.Thr485=) rs756537437
NM_000784.4(CYP27A1):c.309G>A (p.Gln103=) rs1306558952
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln) rs148417330
NM_000806.5(GABRA1):c.-438del rs112361424
NM_000806.5(GABRA1):c.-442dup rs201310567
NM_000925.4(PDHB):c.249T>C (p.Ile83=) rs886058779
NM_000925.4(PDHB):c.96+12G>A rs773433623
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.2445+11G>T rs1356336963
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=) rs745748213
NM_001005361.3(DNM2):c.625C>T (p.Leu209=) rs927749691
NM_001005373.4(LRSAM1):c.1035C>T (p.Asp345=) rs766701971
NM_001005373.4(LRSAM1):c.2115C>T (p.Thr705=) rs1410005477
NM_001008216.2(GALE):c.330C>T (p.Thr110=) rs377557637
NM_001008216.2(GALE):c.450G>A (p.Thr150=) rs566884215
NM_001008216.2(GALE):c.989-13C>T rs199622680
NM_001015878.2(AURKC):c.-99dup rs74179426
NM_001025603.2(RFX5):c.859-15C>T rs377295214
NM_001029896.2(WDR45):c.5C>T (p.Thr2Ile) rs2147817901
NM_001031710.3(KLHL7):c.443-10_443-9del rs774048435
NM_001035.3(RYR2):c.11427G>A (p.Glu3809=) rs553350678
NM_001035.3(RYR2):c.2910C>T (p.Tyr970=) rs575899061
NM_001035.3(RYR2):c.3766C>A (p.Pro1256Thr) rs769729405
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.3(RYR2):c.7035A>T (p.Ala2345=) rs1681182291
NM_001035.3(RYR2):c.7233C>A (p.Ala2411=) rs367994477
NM_001035.3(RYR2):c.7599T>C (p.Pro2533=) rs886046274
NM_001035.3(RYR2):c.9129-7T>C rs1466669135
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=) rs2797436
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met) rs762549821
NM_001039958.2(MESP2):c.957G>A (p.Ser319=) rs752665246
NM_001040108.2(MLH3):c.4239A>G (p.Lys1413=) rs975447813
NM_001040436.3(YARS2):c.*62G>A rs527443669
NM_001040436.3(YARS2):c.930G>A (p.Pro310=) rs147551647
NM_001040716.2(PC):c.1023-14C>A rs111858832
NM_001040716.2(PC):c.2019C>A (p.Val673=) rs1591119887
NM_001040716.2(PC):c.2719-5_2719-3del rs566558597
NM_001040716.2(PC):c.3399G>A (p.Lys1133=) rs776825183
NM_001040716.2(PC):c.3531C>T (p.Ile1177=) rs144982348
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001042492.3(NF1):c.1846-8T>A rs886052799
NM_001042492.3(NF1):c.1866T>C (p.Cys622=) rs753245823
NM_001042492.3(NF1):c.2409+15T>C rs2067039946
NM_001042492.3(NF1):c.3213A>G (p.Ala1071=) rs786202077
NM_001042492.3(NF1):c.4530A>G (p.Leu1510=) rs876660089
NM_001042492.3(NF1):c.6555G>A (p.Arg2185=) rs786203189
NM_001042492.3(NF1):c.6630G>A (p.Leu2210=) rs886052801
NM_001042492.3(NF1):c.7246C>T (p.Leu2416=) rs786201310
NM_001048174.2(MUTYH):c.1053G>A (p.Gln351=) rs886046366
NM_001048174.2(MUTYH):c.1393-11T>G rs868701952
NM_001048174.2(MUTYH):c.305-4C>G rs767717597
NM_001065.4(TNFRSF1A):c.1083C>T (p.Ala361=) rs746923911
NM_001065.4(TNFRSF1A):c.472+7G>T rs200194581
NM_001079802.2(FKTN):c.*5303dup rs879263714
NM_001080467.3(MYO5B):c.2004-11_2004-10del rs771242570
NM_001082971.2(DDC):c.1041+12A>T rs2042651349
NM_001082971.2(DDC):c.316-5G>C rs2044474558
NM_001082971.2(DDC):c.436-6A>G rs770694855
NM_001083116.3(PRF1):c.132C>A (p.Ala44=) rs181323749
NM_001083116.3(PRF1):c.519G>A (p.Thr173=) rs112883709
NM_001083961.2(WDR62):c.1233+15del rs373693641
NM_001083961.2(WDR62):c.1233+15dup rs373693641
NM_001083962.2(TCF4):c.939G>A (p.Gly313=) rs1470608351
NM_001083962.2(TCF4):c.990+12T>A rs144346949
NM_001089.3(ABCA3):c.1465A>T (p.Met489Leu) rs150543946
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001100.4(ACTA1):c.108C>T (p.Ile36=) rs143948837
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=) rs1659932688
NM_001101362.3(KBTBD13):c.162C>T (p.Ser54=) rs1162054356
NM_001101362.3(KBTBD13):c.309G>C (p.Ser103=) rs760134475
NM_001101426.4(CRPPA):c.360C>G (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.360C>T (p.Val120=) rs183141256
NM_001113378.2(FANCI):c.669+17_669+18del rs751881445
NM_001114753.3(ENG):c.220-6C>A rs756342212
NM_001122659.3(EDNRB):c.778G>A (p.Val260Ile) rs77132068
NM_001122752.2(SERPINI1):c.1067-6C>T rs759360650
NM_001122769.3(LCA5):c.1769A>G (p.Asp590Gly) rs771460783
NM_001126108.2(SLC12A3):c.1176C>A (p.Thr392=) rs117440321
NM_001126108.2(SLC12A3):c.2563A>C (p.Arg855=) rs191194366
NM_001126108.2(SLC12A3):c.741+8C>T rs200257610
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del) rs374353052
NM_001127644.2(GABRA1):c.*304del rs547262225
NM_001127644.2(GABRA1):c.-117GACTCG[3] rs527890421
NM_001127671.2(LIFR):c.1245G>A (p.Pro415=) rs139809889
NM_001128425.2(MUTYH):c.192C>T (p.Ala64=) rs760321509
NM_001130823.3(DNMT1):c.1171-7C>T rs1168540279
NM_001130987.2(DYSF):c.1215C>T (p.Gly405=) rs754820811
NM_001130987.2(DYSF):c.1374G>T (p.Gly458=) rs771092045
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.1985-15G>A rs146407633
NM_001130987.2(DYSF):c.2093G>T (p.Gly698Val) rs770228554
NM_001130987.2(DYSF):c.3072T>A (p.Ala1024=) rs2092344930
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met) rs148858485
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=) rs148858485
NM_001130987.2(DYSF):c.378G>T (p.Pro126=) rs377056951
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln) rs139654844
NM_001130987.2(DYSF):c.4461C>T (p.Ile1487=) rs751456837
NM_001130987.2(DYSF):c.5784+10C>T rs758268866
NM_001130987.2(DYSF):c.603G>A (p.Glu201=) rs765064954
NM_001130987.2(DYSF):c.605C>T (p.Ala202Val) rs34999029
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) rs397516593
NM_001134363.3(RBM20):c.1356A>T (p.Ile452=) rs745544964
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.201G>A (p.Lys67=) rs752370319
NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu) rs397516601
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) rs753102653
NM_001134363.3(RBM20):c.785C>G (p.Thr262Ser) rs758718732
NM_001134407.3(GRIN2A):c.2049G>C (p.Gly683=) rs1057523027
NM_001134407.3(GRIN2A):c.3668C>G (p.Thr1223Ser) rs770966136
NM_001134407.3(GRIN2A):c.3854G>T (p.Arg1285Met) rs367543132
NM_001143979.2(NDE1):c.-165-12_-165-9del rs757466932
NM_001160372.4(TRAPPC9):c.1326G>A (p.Ser442=) rs145960296
NM_001160372.4(TRAPPC9):c.2279-11del rs758850777
NM_001160372.4(TRAPPC9):c.2475G>A (p.Arg825=) rs756688439
NM_001164508.2(NEB):c.11563G>A (p.Val3855Ile) rs542092706
NM_001164508.2(NEB):c.11602-13A>T rs886054941
NM_001164508.2(NEB):c.1227C>G (p.Leu409=) rs371658494
NM_001164508.2(NEB):c.17931T>C (p.Phe5977=) rs886054938
NM_001164508.2(NEB):c.18064A>G (p.Ile6022Val) rs574746662
NM_001164508.2(NEB):c.18579+15T>C rs2096234308
NM_001164508.2(NEB):c.19137C>T (p.Asp6379=) rs778962225
NM_001164508.2(NEB):c.19397G>A (p.Arg6466Gln) rs747425038
NM_001164508.2(NEB):c.19428+8C>A rs773614835
NM_001164508.2(NEB):c.20467-5_20467-4dup rs10687343
NM_001164508.2(NEB):c.20467-6_20467-4dup rs10687343
NM_001164508.2(NEB):c.20578-6G>A rs376710012
NM_001164508.2(NEB):c.2155C>T (p.Pro719Ser) rs376503299
NM_001164508.2(NEB):c.21588C>T (p.Pro7196=) rs2090436424
NM_001164508.2(NEB):c.22677A>T (p.Thr7559=) rs778662915
NM_001164508.2(NEB):c.426T>A (p.Asp142Glu) rs200590080
NM_001164508.2(NEB):c.5680A>G (p.Arg1894Gly) rs150961139
NM_001164508.2(NEB):c.585C>G (p.Ala195=) rs374538366
NM_001164508.2(NEB):c.7176T>C (p.Pro2392=) rs1042667385
NM_001164508.2(NEB):c.7865T>G (p.Val2622Gly) rs563691738
NM_001164688.2(RD3):c.468C>T (p.Arg156=) rs148189077
NM_001166114.2(PNPLA6):c.1608+11C>T rs368627125
NM_001166114.2(PNPLA6):c.1770A>G (p.Gln590=) rs780340075
NM_001166114.2(PNPLA6):c.2937-4G>A rs1178206789
NM_001166114.2(PNPLA6):c.306T>A (p.Ile102=) rs554346890
NM_001166114.2(PNPLA6):c.3726G>A (p.Ala1242=) rs146121276
NM_001166114.2(PNPLA6):c.3882C>G (p.Pro1294=) rs202070445
NM_001182.5(ALDH7A1):c.1536C>T (p.Ala512=) rs1015790945
NM_001182.5(ALDH7A1):c.201G>T (p.Thr67=) rs747643987
NM_001182.5(ALDH7A1):c.423G>C (p.Val141=) rs199653162
NM_001191061.2(SLC25A22):c.-72TCCACC[4] rs145401722
NM_001199397.3(NEK1):c.2161C>T (p.Arg721Trp) rs201726561
NM_001199397.3(NEK1):c.2974+11T>C rs886059229
NM_001199397.3(NEK1):c.3141G>A (p.Ser1047=) rs190807750
NM_001199397.3(NEK1):c.3289G>A (p.Val1097Ile) rs374890006
NM_001232.4(CASQ2):c.421-15C>G rs199939582
NM_001235.5(SERPINH1):c.346C>A (p.Arg116Ser) rs200265134
NM_001242957.3(MAK):c.1815T>C (p.Thr605=) rs570463236
NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=) rs527977882
NM_001256317.3(TMPRSS3):c.1192-8T>C rs751114709
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu) rs150397427
NM_001256545.2(MEGF10):c.1673G>T (p.Arg558Leu) rs182243856
NM_001256545.2(MEGF10):c.954T>C (p.Val318=) rs1580833127
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.26762-39TTTGT[11] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[9] rs71393436
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn) rs397517583
NM_001267550.2(TTN):c.915-7dup rs730880351
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_001276345.2(TNNT2):c.270C>G (p.Pro90=) rs140245123
NM_001277115.2(DNAH11):c.10573T>C (p.Leu3525=) rs886062182
NM_001277115.2(DNAH11):c.13176G>A (p.Thr4392=) rs79449551
NM_001277115.2(DNAH11):c.180C>T (p.Arg60=) rs781089233
NM_001277115.2(DNAH11):c.447A>G (p.Gly149=) rs886062170
NM_001277115.2(DNAH11):c.5157A>G (p.Thr1719=) rs149538783
NM_001277115.2(DNAH11):c.6273+9A>G rs192777767
NM_001277115.2(DNAH11):c.6594G>A (p.Pro2198=) rs200894470
NM_001277115.2(DNAH11):c.8023A>G (p.Ile2675Val) rs72657364
NM_001277115.2(DNAH11):c.8511-15G>A rs111471486
NM_001277115.2(DNAH11):c.9312A>G (p.Gln3104=) rs886062181
NM_001330078.2(NRXN1):c.543G>A (p.Lys181=) rs1670775186
NM_001349338.3(FOXP1):c.*1669dup rs886058842
NM_001349338.3(FOXP1):c.*3192del rs535202716
NM_001349338.3(FOXP1):c.*3391TG[10] rs143202281
NM_001352514.2(HLCS):c.1977G>A (p.Val659=) rs886057075
NM_001352514.2(HLCS):c.2418C>T (p.Val806=) rs759416272
NM_001355436.2(SPTB):c.228C>G (p.Thr76=) rs748108358
NM_001355436.2(SPTB):c.2656G>T (p.Val886Leu) rs146031194
NM_001358530.2(MOCS1):c.301C>T (p.Leu101=) rs111640560
NM_001358530.2(MOCS1):c.339C>T (p.Leu113=) rs762810343
NM_001360.3(DHCR7):c.1273G>A (p.Gly425Ser) rs760242
NM_001360.3(DHCR7):c.231C>G (p.Thr77=) rs4316537
NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360.3(DHCR7):c.906C>T (p.Phe302=) rs80338858
NM_001365088.1(SLC12A6):c.1551G>A (p.Pro517=) rs17236798
NM_001365088.1(SLC12A6):c.411+10del rs377536268
NM_001365951.3(KIF1B):c.883-10_883-7del rs886044975
NM_001366722.1(GRIP1):c.*1261dup rs35499444
NM_001367624.2(ZNF469):c.4529TGC[1] (p.Leu1511del) rs555544144
NM_001368067.1(LDB3):c.456G>T (p.Ala152=) rs371708921
NM_001369.3(DNAH5):c.5272-15dup rs35337694
NM_001369369.1(FOXN1):c.123+10C>T rs575898161
NM_001370259.2(MEN1):c.1186-10C>T rs762303621
NM_001370259.2(MEN1):c.655-6C>G rs77461664
NM_001371596.2(MFSD8):c.1470A>G (p.Gly490=) rs1477527807
NM_001375808.2(LPIN2):c.1169-7del rs746626720
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=) rs2077138820
NM_001375808.2(LPIN2):c.1939-2del rs745529823
NM_001375808.2(LPIN2):c.2211C>T (p.Ala737=) rs886053765
NM_001376.5(DYNC1H1):c.10754+11G>A rs886050372
NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=) rs567247522
NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=) rs777166781
NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=) rs961375016
NM_001376.5(DYNC1H1):c.13707G>C (p.Thr4569=) rs138571942
NM_001376.5(DYNC1H1):c.2462C>T (p.Ala821Val) rs1391196036
NM_001376.5(DYNC1H1):c.5049+15G>A rs975753572
NM_001376.5(DYNC1H1):c.5217C>T (p.Ile1739=) rs886050368
NM_001376.5(DYNC1H1):c.5422C>A (p.Leu1808Ile) rs879253937
NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=) rs898083162
NM_001376.5(DYNC1H1):c.7014+11T>A rs748466861
NM_001376.5(DYNC1H1):c.8177+12C>T rs367551573
NM_001376.5(DYNC1H1):c.8178-12A>T rs538986139
NM_001376.5(DYNC1H1):c.9138G>A (p.Ser3046=) rs34338935
NM_001377.3(DYNC2H1):c.10152T>G (p.Ala3384=) rs886047574
NM_001377.3(DYNC2H1):c.9846T>C (p.Asp3282=) rs886047572
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=) rs886038617
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001384140.1(PCDH15):c.3502-10del rs750835578
NM_001384140.1(PCDH15):c.706-17_706-14del rs886047068
NM_001386393.1(PANK2):c.-28C>T rs544239478
NM_001386393.1(PANK2):c.255G>A (p.Ser85=) rs375741383
NM_001386393.1(PANK2):c.717T>C (p.Ile239=) rs1742717583
NM_001395413.1(POR):c.1092T>A (p.Pro364=) rs782729580
NM_001395413.1(POR):c.1405G>C (p.Val469Leu) rs72557946
NM_001395413.1(POR):c.562G>A (p.Val188Met) rs201513102
NM_001395413.1(POR):c.615G>A (p.Leu205=) rs782714107
NM_001429.4(EP300):c.2876G>T (p.Ser959Ile) rs1308182502
NM_001457.4(FLNB):c.1327G>A (p.Val443Ile) rs200902568
NM_001457.4(FLNB):c.1327G>C (p.Val443Leu) rs200902568
NM_001457.4(FLNB):c.1367G>A (p.Arg456Gln) rs377737248
NM_001457.4(FLNB):c.1409G>A (p.Arg470Gln) rs750354519
NM_001457.4(FLNB):c.2130G>C (p.Pro710=) rs371850879
NM_001457.4(FLNB):c.3409G>A (p.Val1137Met) rs150475174
NM_001457.4(FLNB):c.4362G>C (p.Pro1454=) rs150844992
NM_001457.4(FLNB):c.7065C>T (p.His2355=) rs886058766
NM_001457.4(FLNB):c.7662C>A (p.Thr2554=) rs200328630
NM_001457.4(FLNB):c.798C>T (p.Pro266=) rs1341441238
NM_001457.4(FLNB):c.825C>T (p.Ala275=) rs749545528
NM_001482.3(GATM):c.222C>T (p.Pro74=) rs774485349
NM_001558.4(IL10RA):c.67+11G>A rs376956484
NM_001558.4(IL10RA):c.67+13G>A rs886047707
NM_001609.4(ACADSB):c.1062T>C (p.Ala354=) rs886046780
NM_001613.4(ACTA2):c.456C>T (p.Gly152=) rs1845848773
NM_001613.4(ACTA2):c.645G>A (p.Lys215=) rs1053760032
NM_001643.2(APOA2):c.53-43TG[17] rs17244502
NM_001643.2(APOA2):c.53-43TG[21] rs17244502
NM_001698.3(AUH):c.951A>T (p.Pro317=) rs530710210
NM_001844.5(COL2A1):c.1004C>G (p.Thr335Ser) rs755043901
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly) rs1180226091
NM_001844.5(COL2A1):c.3561T>G (p.Pro1187=) rs536885536
NM_001844.5(COL2A1):c.970-5T>C rs2136605096
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[12] rs71752747
NM_001854.4(COL11A1):c.4303-13dup rs35232764
NM_001854.4(COL11A1):c.652-6dup rs36076089
NM_001854.4(COL11A1):c.652-7_652-6dup rs36076089
NM_001875.5(CPS1):c.1982-8A>T rs563304664
NM_001875.5(CPS1):c.2688-12A>G rs376699772
NM_001875.5(CPS1):c.3313C>T (p.Pro1105Ser) rs761921978
NM_001875.5(CPS1):c.3481-7G>C rs368909569
NM_001918.5(DBT):c.1282-14_1282-10del rs752915898
NM_001918.5(DBT):c.1389C>T (p.Phe463=) rs886044964
NM_001927.4(DES):c.735+11G>A rs1559352868
NM_001943.5(DSG2):c.1280+4AG[3] rs876657791
NM_001943.5(DSG2):c.1932T>C (p.Phe644=) rs2073265410
NM_001943.5(DSG2):c.2178T>C (p.Ser726=) rs749897373
NM_001943.5(DSG2):c.45+10G>T rs776975980
NM_001943.5(DSG2):c.828+13C>A rs180926981
NM_001953.5(TYMP):c.1044G>A (p.Ala348=) rs886057633
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His) rs139620380
NM_001999.4(FBN2):c.3218-13A>T rs200543836
NM_001999.4(FBN2):c.6167-4G>A rs370981323
NM_001999.4(FBN2):c.645G>T (p.Pro215=) rs764473594
NM_002076.4(GNS):c.939T>G (p.Thr313=) rs1869657867
NM_002103.5(GYS1):c.235C>T (p.Leu79=) rs886054573
NM_002103.5(GYS1):c.417C>T (p.Ile139=) rs758550328
NM_002156.5(HSPD1):c.*18dup rs777031722
NM_002185.5(IL7R):c.221+7G>A rs200937717
NM_002234.4(KCNA5):c.186G>C (p.Ser62=) rs760015626
NM_002292.4(LAMB2):c.916-4A>G rs886058677
NM_002435.3(MPI):c.1212C>T (p.Val404=) rs2064843052
NM_002454.3(MTRR):c.1875G>T (p.Val625=) rs12347
NM_002470.4(MYH3):c.1960-17dup rs3216884
NM_002471.4(MYH6):c.3979-8del rs193922652
NM_002473.6(MYH9):c.2632-8_2632-6del rs773975934
NM_002474.3(MYH11):c.1249-15G>T rs886051765
NM_002474.3(MYH11):c.1341C>A (p.Thr447=) rs200660016
NM_002474.3(MYH11):c.2665A>C (p.Lys889Gln) rs762308378
NM_002474.3(MYH11):c.3255G>A (p.Leu1085=) rs768298662
NM_002474.3(MYH11):c.3651+6_3651+11del rs371843272
NM_002474.3(MYH11):c.4821C>T (p.Asp1607=) rs749424185
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met) rs201960644
NM_002474.3(MYH11):c.727-11C>T rs886051766
NM_002485.5(NBN):c.1417C>A (p.Gln473Lys) rs755805461
NM_002529.4(NTRK1):c.213-5C>G rs757323460
NM_002529.4(NTRK1):c.2205+13C>A rs1648175536
NM_002529.4(NTRK1):c.2214C>T (p.Asp738=) rs1648253157
NM_002529.4(NTRK1):c.468G>C (p.Leu156=) rs991397214
NM_002618.4(PEX13):c.417A>G (p.Ala139=) rs886056197
NM_002633.3(PGM1):c.1029-8C>G rs752232600
NM_002633.3(PGM1):c.1065C>A (p.Thr355=) rs773677629
NM_002633.3(PGM1):c.741G>A (p.Ser247=) rs142222746
NM_002667.5(PLN):c.90T>C (p.Asn30=) rs868301643
NM_002693.3(POLG):c.*49G>A rs758880377
NM_002693.3(POLG):c.1629C>T (p.Val543=) rs56349446
NM_002693.3(POLG):c.1905G>A (p.Pro635=) rs550592814
NM_002693.3(POLG):c.2109C>T (p.Ala703=) rs2307429
NM_002693.3(POLG):c.2481-10A>C rs555280530
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002734.5(PRKAR1A):c.770-8T>G rs182841147
NM_002778.4(PSAP):c.1278C>T (p.Asn426=) rs777227555
NM_002857.4(PEX19):c.181-4G>T rs747572423
NM_002863.5(PYGL):c.1768+10C>T rs780893472
NM_002890.3(RASA1):c.1611-15G>A rs1760796647
NM_002890.3(RASA1):c.2049G>C (p.Gly683=) rs886060841
NM_002890.3(RASA1):c.75G>A (p.Ala25=) rs529924262
NM_002890.3(RASA1):c.899+8A>G rs781285667
NM_002906.4(RDX):c.-64-6dup rs61003001
NM_002906.4(RDX):c.468-12dup rs368429159
NM_003051.4(SLC16A1):c.362-58TATT[9] rs149491709
NM_003060.4(SLC22A5):c.760C>A (p.Arg254=) rs121908893
NM_003119.4(SPG7):c.763C>T (p.Leu255=) rs2058311848
NM_003126.4(SPTA1):c.5911-17_5911-8del rs554241455
NM_003172.4(SURF1):c.226T>C (p.Leu76=) rs782036327
NM_003238.6(TGFB2):c.510+9C>T rs1481374757
NM_003283.6(TNNT1):c.611+12G>A rs376456377
NM_003283.6(TNNT1):c.611+12G>T rs376456377
NM_003289.4(TPM2):c.773-5_773-3dup rs35401252
NM_003331.5(TYK2):c.2618-14C>G rs532521303
NM_003331.5(TYK2):c.2715+9C>T rs886054132
NM_003334.4(UBA1):c.105G>A (p.Ser35=) rs782781187
NM_003482.4(KMT2D):c.11162TGCAGC[3] (p.3721LQ[3]) rs771711980
NM_003482.4(KMT2D):c.11850GCA[1] (p.Gln3954del) rs886049475
NM_003494.4(DYSF):c.4C>T (p.Leu2=) rs772536111
NM_003560.4(PLA2G6):c.266C>A (p.Ser89Tyr) rs142715413
NM_003640.5(ELP1):c.169T>C (p.Leu57=) rs886063349
NM_003640.5(ELP1):c.1957T>C (p.Leu653=) rs542412132
NM_003640.5(ELP1):c.3441A>G (p.Gln1147=) rs779796058
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=) rs200087122
NM_003748.4(ALDH4A1):c.1086G>C (p.Pro362=) rs41310410
NM_003748.4(ALDH4A1):c.1460+15C>T rs371777923
NM_003764.4(STX11):c.221C>T (p.Thr74Met) rs540150447
NM_003764.4(STX11):c.264C>T (p.Ser88=) rs774895225
NM_003764.4(STX11):c.63C>T (p.Asp21=) rs149176821
NM_003859.3(DPM1):c.161+10C>T rs779869066
NM_003859.3(DPM1):c.84G>A (p.Ser28=) rs16995639
NM_003924.4(PHOX2B):c.741C>G (p.Ala247=) rs764470906
NM_003982.4(SLC7A7):c.1095+6T>C rs531862402
NM_003982.4(SLC7A7):c.1263G>A (p.Pro421=) rs1043886041
NM_003982.4(SLC7A7):c.591G>A (p.Ala197=) rs750720946
NM_003982.4(SLC7A7):c.931A>G (p.Ile311Val) rs539843065
NM_004035.7(ACOX1):c.1479-12A>G rs2065755060
NM_004035.7(ACOX1):c.1866C>A (p.Gly622=) rs886053456
NM_004035.7(ACOX1):c.270-8C>G rs751892262
NM_004100.5(EYA4):c.*1142del rs886061091
NM_004100.5(EYA4):c.899C>A (p.Ala300Asp) rs757252384
NM_004239.4(TRIP11):c.5829C>T (p.Pro1943=) rs748903681
NM_004273.5(CHST3):c.195C>T (p.Thr65=) rs759935618
NM_004273.5(CHST3):c.306C>T (p.Gly102=) rs776007496
NM_004287.5(GOSR2):c.363C>T (p.Asp121=) rs886053078
NM_004304.5(ALK):c.1890C>T (p.Ile630=) rs1278070199
NM_004304.5(ALK):c.2073C>T (p.Ser691=) rs370435082
NM_004304.5(ALK):c.2901C>A (p.Thr967=) rs886055930
NM_004304.5(ALK):c.310C>A (p.Pro104Thr) rs576431612
NM_004304.5(ALK):c.510C>T (p.Leu170=) rs886055933
NM_004304.5(ALK):c.615C>A (p.Ser205=) rs567498111
NM_004304.5(ALK):c.660C>T (p.Phe220=) rs1667944556
NM_004304.5(ALK):c.822G>A (p.Leu274=) rs1265006535
NM_004360.5(CDH1):c.1170C>T (p.Asn390=) rs766505270
NM_004360.5(CDH1):c.1716T>C (p.Ser572=) rs876660176
NM_004360.5(CDH1):c.1887A>G (p.Glu629=) rs886052236
NM_004415.4(DSP):c.5064G>A (p.Ala1688=) rs886061747
NM_004415.4(DSP):c.5391G>A (p.Arg1797=) rs778745098
NM_004415.4(DSP):c.5544G>A (p.Arg1848=) rs727503004
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn) rs199597935
NM_004415.4(DSP):c.8199G>A (p.Thr2733=) rs145085696
NM_004453.4(ETFDH):c.1116+7C>T rs748640706
NM_004453.4(ETFDH):c.1117-11T>C rs917132143
NM_004453.4(ETFDH):c.63T>C (p.Ile21=) rs566605780
NM_004519.4(KCNQ3):c.-141_-139dup rs879019805
NM_004519.4(KCNQ3):c.1809A>G (p.Pro603=) rs886062691
NM_004519.4(KCNQ3):c.1995G>T (p.Ser665=) rs759776061
NM_004525.3(LRP2):c.11568G>A (p.Pro3856=) rs745949029
NM_004525.3(LRP2):c.3932G>A (p.Arg1311His) rs140748929
NM_004525.3(LRP2):c.5648+7A>C rs775694684
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=) rs886063224
NM_004612.4(TGFBR1):c.97+15GGCG[4] rs886063221
NM_004628.5(XPC):c.1185G>A (p.Lys395=) rs886058051
NM_004629.2(FANCG):c.957G>A (p.Pro319=) rs145092954
NM_004655.4(AXIN2):c.1347C>T (p.Thr449=) rs762279806
NM_004655.4(AXIN2):c.1443C>T (p.Leu481=) rs886053272
NM_004655.4(AXIN2):c.174C>T (p.Asn58=) rs763012548
NM_004655.4(AXIN2):c.2124G>A (p.Ser708=) rs143243661
NM_004655.4(AXIN2):c.2405+4A>C rs377423720
NM_004656.4(BAP1):c.783+11T>C rs1705153387
NM_004817.4(TJP2):c.3408-6dup rs778863371
NM_004820.5(CYP7B1):c.957T>C (p.Arg319=) rs886063073
NM_004984.4(KIF5A):c.1603C>T (p.Arg535Trp) rs1055742325
NM_005045.4(RELN):c.-24GGC[15] (p.Met1_Glu2insGlyGlyGlyGlyGlyGlyGly) rs55656324
NM_005045.4(RELN):c.-24GGC[6] rs55656324
NM_005045.4(RELN):c.-24GGC[9] (p.Met1_Glu2insGly) rs55656324
NM_005045.4(RELN):c.5211-7dup rs34125550
NM_005045.4(RELN):c.5211-8_5211-7dup rs34125550
NM_005142.3(CBLIF):c.138G>A (p.Ser46=) rs200472519
NM_005159.5(ACTC1):c.809-58TG[17] rs59431308
NM_005159.5(ACTC1):c.809-58TG[21] rs59431308
NM_005159.5(ACTC1):c.809-58TG[22] rs59431308
NM_005159.5(ACTC1):c.809-58TG[24] rs59431308
NM_005159.5(ACTC1):c.809-58TG[26] rs59431308
NM_005198.5(CHKB):c.447+12G>A rs749454476
NM_005198.5(CHKB):c.582-13_582-11del rs766816072
NM_005219.5(DIAPH1):c.402+12del rs555848272
NM_005271.5(GLUD1):c.1403-11dup rs550609501
NM_005271.5(GLUD1):c.1557+12G>A rs201872390
NM_005327.7(HADH):c.264C>T (p.Ala88=) rs201324954
NM_005327.7(HADH):c.291G>T (p.Leu97=) rs552317372
NM_005518.4(HMGCS2):c.621C>T (p.Pro207=) rs886045207
NM_005535.3(IL12RB1):c.1461T>C (p.Asp487=) rs542734526
NM_005535.3(IL12RB1):c.1650C>T (p.Phe550=) rs2034193297
NM_005535.3(IL12RB1):c.732G>T (p.Ser244=) rs145487261
NM_005546.4(ITK):c.150G>A (p.Thr50=) rs61743239
NM_005546.4(ITK):c.396C>T (p.Cys132=) rs1459993484
NM_005591.4(MRE11):c.154-11C>G rs751354326
NM_005591.4(MRE11):c.1545A>G (p.Glu515=) rs886048759
NM_005591.4(MRE11):c.1868-4C>A rs768257868
NM_005609.4(PYGM):c.1769-7T>C rs2058357396
NM_005609.4(PYGM):c.177C>T (p.Thr59=) rs753355735
NM_005609.4(PYGM):c.537G>A (p.Glu179=) rs886048462
NM_005633.4(SOS1):c.*1694del rs767903412
NM_005633.4(SOS1):c.*3189_*3192del rs572584074
NM_005633.4(SOS1):c.1989A>C (p.Ile663=) rs587781172
NM_005677.4(COLQ):c.718-9C>T rs756975517
NM_005709.4(USH1C):c.1220G>A (p.Gly407Glu) rs143923730
NM_005726.6(TSFM):c.408G>A (p.Leu136=) rs144109380
NM_005908.4(MANBA):c.1953G>A (p.Thr651=) rs886058968
NM_005908.4(MANBA):c.2269T>C (p.Leu757=) rs774068992
NM_005908.4(MANBA):c.2358C>T (p.Asn786=) rs767182713
NM_006005.3(WFS1):c.1134C>G (p.Thr378=) rs71530904
NM_006005.3(WFS1):c.114C>T (p.Ser38=) rs531593902
NM_006005.3(WFS1):c.132C>T (p.Pro44=) rs754346893
NM_006005.3(WFS1):c.1333C>G (p.Leu445Val) rs764932308
NM_006005.3(WFS1):c.2466C>T (p.Leu822=) rs141669724
NM_006005.3(WFS1):c.2481C>T (p.Thr827=) rs886059532
NM_006005.3(WFS1):c.2514T>C (p.Pro838=) rs773643250
NM_006005.3(WFS1):c.2580C>T (p.His860=) rs754802246
NM_006005.3(WFS1):c.468G>T (p.Thr156=) rs201145164
NM_006005.3(WFS1):c.654C>T (p.Pro218=) rs727504666
NM_006031.6(PCNT):c.1083A>G (p.Leu361=) rs758561093
NM_006118.4(HAX1):c.713C>T (p.Thr238Ile) rs377331781
NM_006186.4(NR4A2):c.*659_*661del rs577936871
NM_006204.4(PDE6C):c.2208+13_2208+17del rs886047483
NM_006204.4(PDE6C):c.252G>T (p.Leu84=) rs1131978
NM_006206.6(PDGFRA):c.1596G>C (p.Leu532=) rs1723603076
NM_006206.6(PDGFRA):c.1821G>C (p.Val607=) rs886059446
NM_006206.6(PDGFRA):c.2040A>C (p.Gly680=) rs773679384
NM_006206.6(PDGFRA):c.219T>C (p.Asn73=) rs886059443
NM_006206.6(PDGFRA):c.2574C>A (p.Pro858=) rs771421611
NM_006206.6(PDGFRA):c.3195G>A (p.Glu1065=) rs1724822643
NM_006206.6(PDGFRA):c.480C>T (p.Thr160=) rs1461385164
NM_006208.3(ENPP1):c.313+8_313+9insTT rs879243445
NM_006208.3(ENPP1):c.313+8_313+9insTTGTGT rs879243445
NM_006208.3(ENPP1):c.313+9GT[16] rs59956343
NM_006208.3(ENPP1):c.313+9GT[17] rs59956343
NM_006208.3(ENPP1):c.313+9GT[20] rs59956343
NM_006208.3(ENPP1):c.313+9GT[22] rs59956343
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=) rs186510389
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=) rs782763816
NM_006348.5(COG5):c.948+12A>T rs763696416
NM_006371.5(CRTAP):c.930C>T (p.Asp310=) rs762039541
NM_006397.3(RNASEH2A):c.550-13G>A rs560268310
NM_006415.4(SPTLC1):c.1329-9T>C rs778388513
NM_006493.4(CLN5):c.566-7A>G rs772501269
NM_006502.3(POLH):c.1247CTC[2] (p.Pro418del) rs747834463
NM_006623.4(PHGDH):c.1078+10G>T rs374994783
NM_006623.4(PHGDH):c.1158G>A (p.Ala386=) rs144484007
NM_006623.4(PHGDH):c.381G>A (p.Ser127=) rs886045205
NM_006623.4(PHGDH):c.519G>A (p.Gly173=) rs754326499
NM_006623.4(PHGDH):c.543G>A (p.Glu181=) rs886045206
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser) rs114194130
NM_006892.4(DNMT3B):c.921+13G>A rs1979990258
NM_006949.4(STXBP2):c.1134G>A (p.Glu378=) rs755758613
NM_006996.3(SLC19A2):c.*1524C>T rs79478264
NM_007194.4(CHEK2):c.1461+12A>G rs886057328
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=) rs200917541
NM_007272.3(CTRC):c.615C>T (p.Gly205=) rs756236720
NM_007272.3(CTRC):c.642G>A (p.Gly214=) rs1265655451
NM_007294.4(BRCA1):c.*873del rs59541324
NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu) rs80356910
NM_007294.4(BRCA1):c.5466T>C (p.His1822=) rs886052975
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_007374.3(SIX6):c.18C>A (p.Ile6=) rs150715226
NM_007374.3(SIX6):c.573-6C>G rs770759922
NM_012062.5(DNM1L):c.*21_*22delinsCT rs34421401
NM_012203.2(GRHPR):c.666C>G (p.Thr222=) rs146227450
NM_012213.3(MLYCD):c.1424A>G (p.Lys475Arg) rs200413924
NM_012213.3(MLYCD):c.984G>T (p.Leu328=) rs765416276
NM_012434.5(SLC17A5):c.1176C>T (p.Ala392=) rs372195490
NM_012472.6(DNAAF11):c.574C>G (p.Gln192Glu) rs141945265
NM_013247.5(HTRA2):c.825T>C (p.Val275=) rs777650346
NM_013339.4(ALG6):c.1127+8A>C rs756307525
NM_013339.4(ALG6):c.450C>A (p.Ile150=) rs1644492796
NM_013339.4(ALG6):c.495A>G (p.Gln165=) rs886046471
NM_014000.3(VCL):c.1704G>A (p.Gln568=) rs1839959715
NM_014000.3(VCL):c.789T>C (p.Thr263=) rs538002543
NM_014043.4(CHMP2B):c.531+8C>T rs374796686
NM_014140.4(SMARCAL1):c.1485+8G>A rs886055617
NM_014140.4(SMARCAL1):c.2295G>A (p.Glu765=) rs1301876154
NM_014140.4(SMARCAL1):c.863-4G>T rs1693689203
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser) rs371378288
NM_014141.6(CNTNAP2):c.1348+13T>G rs200282837
NM_014141.6(CNTNAP2):c.286A>G (p.Ser96Gly) rs540745201
NM_014141.6(CNTNAP2):c.550+10G>A rs776175685
NM_014141.6(CNTNAP2):c.600C>T (p.Phe200=) rs752019151
NM_014141.6(CNTNAP2):c.945C>G (p.Thr315=) rs794727872
NM_014244.5(ADAMTS2):c.1308G>C (p.Ala436=) rs41285549
NM_014244.5(ADAMTS2):c.1848C>G (p.Pro616=) rs569510744
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu) rs200806292
NM_014244.5(ADAMTS2):c.2382G>A (p.Glu794=) rs745407557
NM_014244.5(ADAMTS2):c.258C>G (p.Ala86=) rs886060497
NM_014244.5(ADAMTS2):c.3078C>T (p.Gly1026=) rs886060491
NM_014244.5(ADAMTS2):c.447G>A (p.Glu149=) rs886060496
NM_014244.5(ADAMTS2):c.919T>C (p.Leu307=) rs1764038673
NM_014252.4(SLC25A15):c.45G>A (p.Ala15=) rs200958757
NM_014297.5(ETHE1):c.376-5G>C rs886054479
NM_014324.6(AMACR):c.27G>A (p.Val9=) rs780679627
NM_014324.6(AMACR):c.289C>A (p.Arg97=) rs757072374
NM_014324.6(AMACR):c.553-5C>A rs1753722683
NM_014336.5(AIPL1):c.970C>A (p.Arg324=) rs375096209
NM_014336.5(AIPL1):c.98T>C (p.Val33Ala) rs16955859
NM_014339.7(IL17RA):c.1233C>T (p.Ala411=) rs552425210
NM_014339.7(IL17RA):c.1632G>C (p.Pro544=) rs550947413
NM_014339.7(IL17RA):c.641C>T (p.Ala214Val) rs558799480
NM_014339.7(IL17RA):c.894C>T (p.Ser298=) rs374537654
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_014363.6(SACS):c.10716C>G (p.Pro3572=) rs886050077
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser) rs370655945
NM_014363.6(SACS):c.13563T>C (p.Asn4521=) rs766497653
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.3915T>C (p.His1305=) rs767598017
NM_014363.6(SACS):c.4986G>A (p.Thr1662=) rs755523201
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala) rs556248979
NM_014363.6(SACS):c.7713A>T (p.Pro2571=) rs557113294
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.6(SACS):c.8853T>G (p.Val2951=) rs9552929
NM_014363.6(SACS):c.972C>A (p.Asp324Glu) rs546652936
NM_014365.3(HSPB8):c.*848TAA[9] rs60924821
NM_014365.3(HSPB8):c.432-10T>A rs368810689
NM_014391.3(ANKRD1):c.346-12_346-11insTATA rs766545285
NM_014391.3(ANKRD1):c.346-15_346-14del rs794728971
NM_014391.3(ANKRD1):c.346-17_346-10del rs397517250
NM_014391.3(ANKRD1):c.346-21ATTT[2] rs397517250
NM_014391.3(ANKRD1):c.346-29_346-12del rs72003210
NM_014391.3(ANKRD1):c.346-43AT[13] rs60406118
NM_014425.5(INVS):c.907-13dup rs750082874
NM_014714.4(IFT140):c.2997+8C>G rs372183503
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln) rs201884886
NM_014714.4(IFT140):c.3513G>A (p.Ala1171=) rs763709094
NM_014714.4(IFT140):c.3660+13C>T rs767836990
NM_014714.4(IFT140):c.481C>G (p.Pro161Ala) rs148462329
NM_014714.4(IFT140):c.772A>T (p.Thr258Ser) rs141254616
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg) rs145858131
NM_014714.4(IFT140):c.867C>T (p.Ser289=) rs145858131
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln) rs186003800
NM_014855.3(AP5Z1):c.1740G>A (p.Ala580=) rs773950276
NM_014855.3(AP5Z1):c.1794C>T (p.Ala598=) rs374673921
NM_014855.3(AP5Z1):c.2151C>T (p.Pro717=) rs1781745482
NM_014874.4(MFN2):c.1716+8A>G rs1639390139
NM_014946.4(SPAST):c.*372TTGT[2] rs756347073
NM_014946.4(SPAST):c.1744T>C (p.Leu582=) rs886055962
NM_015046.7(SETX):c.389-9del rs534931548
NM_015046.7(SETX):c.6843-6_6843-5dup rs34769225
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val) rs1842534708
NM_015192.4(PLCB1):c.1854T>C (p.Gly618=) rs559952614
NM_015192.4(PLCB1):c.2571G>A (p.Thr857=) rs995077080
NM_015192.4(PLCB1):c.3135C>A (p.Val1045=) rs577076166
NM_015272.5(RPGRIP1L):c.3220+13T>C rs376659273
NM_015346.4(ZFYVE26):c.4502C>T (p.Thr1501Met) rs201034965
NM_015346.4(ZFYVE26):c.5622-10_5622-9del rs768978705
NM_015474.4(SAMHD1):c.543A>T (p.Ala181=) rs769968442
NM_015627.3(LDLRAP1):c.276G>A (p.Val92=) rs1215026981
NM_015627.3(LDLRAP1):c.414C>T (p.Asn138=) rs1057515536
NM_015627.3(LDLRAP1):c.45C>T (p.Pro15=) rs1057515534
NM_015627.3(LDLRAP1):c.480C>T (p.Thr160=) rs1057515463
NM_015702.3(MMADHC):c.759A>T (p.Gly253=) rs886054920
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=) rs1828679645
NM_016123.4(IRAK4):c.1347+13del rs751119487
NM_016156.6(MTMR2):c.184_186del (p.Arg62del) rs141498429
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=) rs145029525
NM_016219.5(MAN1B1):c.159G>A (p.Thr53=) rs774835139
NM_016247.4(IMPG2):c.534-13dup rs567795716
NM_016630.7(SPG21):c.177T>C (p.Phe59=) rs2085872082
NM_016630.7(SPG21):c.321C>T (p.Gly107=) rs566278586
NM_016729.3(FOLR1):c.510A>G (p.Ala170=) rs564331848
NM_016938.5(EFEMP2):c.321C>T (p.Asn107=) rs762409753
NM_017534.6(MYH2):c.2478C>T (p.Ser826=) rs2073428153
NM_017636.4(TRPM4):c.1908G>C (p.Val636=) rs950364050
NM_017636.4(TRPM4):c.2154A>C (p.Thr718=) rs370827464
NM_017636.4(TRPM4):c.2358C>T (p.Asn786=) rs886054579
NM_017636.4(TRPM4):c.2529G>C (p.Gly843=) rs754769591
NM_017668.3(NDE1):c.*367T>C rs138543179
NM_017668.3(NDE1):c.948-3135C>T rs759760029
NM_017755.5(NSUN2):c.-73C>T rs139145592
NM_017882.3(CLN6):c.*141GT[12] rs3837692
NM_017882.3(CLN6):c.213C>G (p.Leu71=) rs146980624
NM_017882.3(CLN6):c.66C>T (p.Ala22=) rs796052349
NM_017882.3(CLN6):c.83+11G>A rs2093262385
NM_017950.4(CCDC40):c.2169C>T (p.Ile723=) rs200641382
NM_018055.5(NODAL):c.819C>G (p.Ala273=) rs749265748
NM_018100.4(EFHC1):c.*1025AT[12] rs59794069
NM_018100.4(EFHC1):c.*140C>T rs78906153
NM_018129.4(PNPO):c.549T>C (p.Tyr183=) rs2036008214
NM_018136.5(ASPM):c.2936+11_2936+14del rs745619939
NM_018206.6(VPS35):c.1035G>A (p.Glu345=) rs563975281
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=) rs534280770
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=) rs1387756161
NM_018418.5(SPATA7):c.57G>A (p.Pro19=) rs367830780
NM_018418.5(SPATA7):c.57G>T (p.Pro19=) rs367830780
NM_018451.5(CENPJ):c.2992-17dup rs35599563
NM_018451.5(CENPJ):c.2992-18_2992-17del rs151246139
NM_018648.4(NOP10):c.*41dup rs528879821
NM_018714.3(COG1):c.903G>C (p.Gln301His) rs117208167
NM_018718.3(CEP41):c.278-15A>C rs142452124
NM_018834.6(MATR3):c.1734+11T>G rs886059990
NM_018834.6(MATR3):c.2031C>T (p.Asp677=) rs557085910
NM_018834.6(MATR3):c.675A>G (p.Arg225=) rs199711502
NM_019032.6(ADAMTSL4):c.1750-10_1750-6del rs886045267
NM_019098.5(CNGB3):c.339-10dup rs200792506
NM_019892.6(INPP5E):c.1074G>A (p.Pro358=) rs746782404
NM_019892.6(INPP5E):c.1279+14T>C rs886063711
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.768A>G (p.Val256=) rs567236851
NM_020247.5(COQ8A):c.*761G>A rs145779574
NM_020247.5(COQ8A):c.1256+11C>G rs564593360
NM_020247.5(COQ8A):c.1398+12C>A rs774158999
NM_020247.5(COQ8A):c.1713C>A (p.Ala571=) rs886046069
NM_020247.5(COQ8A):c.521C>A (p.Thr174Lys) rs181579601
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr) rs376462712
NM_020297.4(ABCC9):c.1165-6dup rs35857705
NM_020297.4(ABCC9):c.1165-7_1165-6del rs35857705
NM_020297.4(ABCC9):c.133T>C (p.Leu45=) rs1555125400
NM_020297.4(ABCC9):c.1992C>T (p.Pro664=) rs780071007
NM_020297.4(ABCC9):c.366T>C (p.Tyr122=) rs886049174
NM_020297.4(ABCC9):c.6C>T (p.Ser2=) rs765382139
NM_020320.5(RARS2):c.888G>A (p.Thr296=) rs145189950
NM_020320.5(RARS2):c.888G>C (p.Thr296=) rs145189950
NM_020366.4(RPGRIP1):c.3571C>T (p.Arg1191Trp) rs188660364
NM_020376.4(PNPLA2):c.165G>T (p.Ala55=) rs761885395
NM_020376.4(PNPLA2):c.487-15T>G rs749452055
NM_020376.4(PNPLA2):c.487-7G>A rs372342635
NM_020451.3(SELENON):c.*267C>G rs184807941
NM_020451.3(SELENON):c.1710G>A (p.Thr570=) rs371398538
NM_020533.3(MCOLN1):c.1032G>A (p.Leu344=) rs371345093
NM_020533.3(MCOLN1):c.1077C>T (p.Val359=) rs200417975
NM_020533.3(MCOLN1):c.1135-14G>A rs2022615978
NM_020533.3(MCOLN1):c.1590A>C (p.Ala530=) rs2022699936
NM_020533.3(MCOLN1):c.1707-14C>T rs541186661
NM_020533.3(MCOLN1):c.985-15G>C rs199860642
NM_020686.6(ABAT):c.1123-14G>A rs758870080
NM_020686.6(ABAT):c.1140C>T (p.Asn380=) rs770156912
NM_020686.6(ABAT):c.1389G>A (p.Val463=) rs2060432508
NM_020686.6(ABAT):c.317-5C>G rs781499078
NM_020686.6(ABAT):c.540+14CA[14] rs35745596
NM_020686.6(ABAT):c.645C>A (p.Gly215=) rs1139522
NM_020686.6(ABAT):c.667+7_667+8dup rs748783252
NM_020975.6(RET):c.2523G>T (p.Pro841=) rs56195026
NM_021615.5(CHST6):c.573C>G (p.Pro191=) rs1044185449
NM_021625.5(TRPV4):c.1825-15C>G rs200602134
NM_021625.5(TRPV4):c.195A>G (p.Pro65=) rs1891742510
NM_021625.5(TRPV4):c.2433G>A (p.Ser811=) rs34071623
NM_021922.3(FANCE):c.1263T>C (p.Cys421=) rs747692546
NM_021922.3(FANCE):c.1593G>A (p.Leu531=) rs886061332
NM_021922.3(FANCE):c.937C>T (p.Leu313=) rs557021652
NM_022051.3(EGLN1):c.432C>T (p.Pro144=) rs886046110
NM_022051.3(EGLN1):c.597G>C (p.Val199=) rs563998083
NM_022124.6(CDH23):c.*588del rs148667421
NM_022124.6(CDH23):c.4005C>G (p.Val1335=) rs886047136
NM_022124.6(CDH23):c.4984C>T (p.Leu1662=) rs886047139
NM_022124.6(CDH23):c.5727T>C (p.Thr1909=) rs756919394
NM_022124.6(CDH23):c.588G>A (p.Glu196=) rs886047129
NM_022124.6(CDH23):c.7482+12C>A rs370000472
NM_022124.6(CDH23):c.7551C>T (p.Ser2517=) rs886047140
NM_022124.6(CDH23):c.9739-12G>A rs200638595
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=) rs886060738
NM_022367.4(SEMA4A):c.810+7G>A rs568949451
NM_022436.3(ABCG5):c.905-3dup rs142037828
NM_022464.5(SIL1):c.1017G>C (p.Leu339=) rs769587333
NM_022464.5(SIL1):c.132G>A (p.Glu44=)
NM_022464.5(SIL1):c.196G>A (p.Val66Ile)
NM_022464.5(SIL1):c.645+15C>T
NM_024079.5(ALG8):c.441A>T (p.Val147=) rs112109685
NM_024105.4(ALG12):c.1452C>T (p.Leu484=) rs772352960
NM_024105.4(ALG12):c.470-12A>T rs191669043
NM_024105.4(ALG12):c.48G>A (p.Leu16=) rs143508665
NM_024105.4(ALG12):c.493C>T (p.Leu165=) rs778040010
NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=) rs754258764
NM_024312.5(GNPTAB):c.2904A>C (p.Glu968Asp) rs555336070
NM_024422.6(DSC2):c.1077+9A>G rs369381870
NM_024422.6(DSC2):c.475-13A>G rs751631188
NM_024422.6(DSC2):c.588T>C (p.Tyr196=) rs1987518239
NM_024529.5(CDC73):c.-4dup rs545666726
NM_024529.5(CDC73):c.834C>T (p.Pro278=) rs886045714
NM_024577.4(SH3TC2):c.*10051ACCA[16] rs57301725
NM_024577.4(SH3TC2):c.*16856CA[22] rs71957589
NM_024577.4(SH3TC2):c.*19563_*19564dup rs5872105
NM_024685.4(BBS10):c.1158G>A (p.Leu386=) rs138702315
NM_024685.4(BBS10):c.147G>A (p.Arg49=) rs1592493118
NM_024996.7(GFM1):c.56C>T (p.Ala19Val) rs567086019
NM_025000.4(DCAF17):c.95A>C (p.Asn32Thr) rs748586810
NM_025099.6(CTC1):c.2060+12G>A rs1987317835
NM_025099.6(CTC1):c.2253A>G (p.Gly751=) rs1164794062
NM_025137.4(SPG11):c.1558C>T (p.Leu520Phe) rs557277528
NM_025137.4(SPG11):c.3132C>G (p.Ala1044=) rs770666794
NM_025137.4(SPG11):c.3138C>T (p.Asn1046=) rs2083512162
NM_025137.4(SPG11):c.4052G>A (p.Arg1351Lys) rs564171625
NM_025137.4(SPG11):c.4162-10T>C rs765557765
NM_025137.4(SPG11):c.4162-4C>T rs777010404
NM_025137.4(SPG11):c.437A>G (p.Asp146Gly) rs182535774
NM_025137.4(SPG11):c.6007-6T>C rs886051180
NM_025137.4(SPG11):c.60G>C (p.Ala20=) rs544136842
NM_025137.4(SPG11):c.6283T>C (p.Leu2095=) rs2082448894
NM_025137.4(SPG11):c.6477+13del rs574960359
NM_025137.4(SPG11):c.7000-8C>T rs886051177
NM_025137.4(SPG11):c.7151+11A>C rs779150349
NM_025243.4(SLC19A3):c.1204C>T (p.Arg402Cys) rs150523975
NM_025243.4(SLC19A3):c.390G>T (p.Val130=) rs376187918
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=) rs138363524
NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val) rs200196034
NM_030777.4(SLC2A10):c.625C>T (p.Leu209=) rs748662135
NM_030787.4(CFHR5):c.647A>G (p.Asn216Ser) rs147488267
NM_030787.4(CFHR5):c.903T>C (p.Tyr301=) rs886045751
NM_030787.4(CFHR5):c.993C>A (p.Cys331Ter) rs751010317
NM_031433.4(MFRP):c.909G>C (p.Gly303=) rs777996384
NM_031885.5(BBS2):c.118-16_118-13del rs758674101
NM_032193.4(RNASEH2C):c.468+8G>A rs751767695
NM_032382.5(COG8):c.1413+12C>G rs977274573
NM_032444.4(SLX4):c.426T>A (p.Gly142=) rs377500336
NM_032520.5(GNPTG):c.6G>T (p.Ala2=) rs886051658
NM_032520.5(GNPTG):c.798C>T (p.His266=) rs375787769
NM_032581.4(HYCC1):c.930T>G (p.Ser310=) rs762598890
NM_032634.4(PIGO):c.1758C>T (p.Val586=) rs144103228
NM_032634.4(PIGO):c.3141-9T>A rs374227554
NM_032634.4(PIGO):c.387C>A (p.Thr129=) rs765968784
NM_032977.4(CASP10):c.534A>G (p.Val178=) rs146233833
NM_033022.4(RPS24):c.280-11_280-10del rs756756010
NM_033028.5(BBS4):c.1451-6dup rs770389663
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_033056.4(PCDH15):c.5486del (p.Pro1829fs) rs1564532058
NM_033100.4(CDHR1):c.152-12_152-11del rs767478332
NM_033100.4(CDHR1):c.159C>T (p.His53=) rs12781048
NM_033159.4(HYAL1):c.1047G>A (p.Leu349=) rs782279681
NM_033159.4(HYAL1):c.1176G>A (p.Thr392=) rs587680396
NM_033305.3(VPS13A):c.7044T>A (p.Pro2348=) rs143259810
NM_052813.5(CARD9):c.1090C>A (p.Arg364=) rs151211588
NM_052813.5(CARD9):c.1104C>T (p.His368=) rs145052557
NM_052859.4(RFT1):c.477G>C (p.Ser159=) rs750521781
NM_052872.4(IL17F):c.456C>T (p.Cys152=) rs1345707985
NM_052945.4(TNFRSF13C):c.255G>C (p.Leu85=) rs544076556
NM_052989.3(IFT122):c.132C>G (p.Thr44=) rs371772807
NM_052989.3(IFT122):c.2181C>T (p.Thr727=) rs545131069
NM_053025.4(MYLK):c.*1174_*1177dup rs146691098
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.2760C>G (p.Ala920=) rs368080781
NM_053025.4(MYLK):c.3024G>A (p.Val1008=) rs886057860
NM_053025.4(MYLK):c.999G>T (p.Pro333=) rs13319347
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_058216.3(RAD51C):c.404+13G>A rs547506164
NM_058216.3(RAD51C):c.87T>C (p.Ser29=) rs786203249
NM_080424.4(SP110):c.2029-7_2029-6del rs773164340
NM_080424.4(SP110):c.829+15T>C rs372230531
NM_080911.3(UNG):c.204C>G (p.Ala68=) rs777436497
NM_080911.3(UNG):c.435+15T>A rs765672149
NM_080911.3(UNG):c.825G>A (p.Thr275=) rs765151419
NM_133259.4(LRPPRC):c.135C>T (p.Ala45=) rs886056061
NM_133259.4(LRPPRC):c.1419T>C (p.Asp473=) rs886056057
NM_133259.4(LRPPRC):c.346+9A>C rs754438818
NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=) rs761030463
NM_133433.4(NIPBL):c.6402A>G (p.Leu2134=) rs777430704
NM_133642.5(LARGE1):c.909T>G (p.Leu303=) rs563144239
NM_138387.4(G6PC3):c.417-14T>C rs2050055854
NM_138694.4(PKHD1):c.10883C>T (p.Thr3628Ile) rs147700643
NM_138694.4(PKHD1):c.11901G>A (p.Val3967=) rs751385266
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser) rs141790557
NM_138694.4(PKHD1):c.208C>A (p.Pro70Thr) rs781485593
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.2463C>T (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.281+13G>A rs1812167147
NM_138694.4(PKHD1):c.6641A>G (p.His2214Arg) rs778124617
NM_138694.4(PKHD1):c.7635C>G (p.Thr2545=) rs779757789
NM_138694.4(PKHD1):c.888A>G (p.Pro296=) rs76012218
NM_138694.4(PKHD1):c.904G>A (p.Val302Met) rs779418460
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=) rs745523374
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys) rs759568939
NM_139319.3(SLC17A8):c.1631AGA[1] (p.Lys545del) rs141689561
NM_139343.3(BIN1):c.1395G>C (p.Ala465=) rs765870974
NM_139343.3(BIN1):c.1515C>G (p.Thr505=) rs375583449
NM_139343.3(BIN1):c.168G>A (p.Thr56=) rs528828320
NM_144573.4(NEXN):c.*4CT[1] rs553696163
NM_144687.4(NLRP12):c.2046A>G (p.Ala682=) rs886054608
NM_144997.7(FLCN):c.1482C>T (p.Asn494=) rs1597578831
NM_144997.7(FLCN):c.250-7T>C rs748857550
NM_152296.5(ATP1A3):c.1011C>T (p.Thr337=) rs782312004
NM_152296.5(ATP1A3):c.15A>G (p.Lys5=) rs886054476
NM_152296.5(ATP1A3):c.270C>T (p.Phe90=) rs782539594
NM_152383.5(DIS3L2):c.1836G>A (p.Pro612=) rs202227137
NM_152383.5(DIS3L2):c.2497-14T>C rs1283433476
NM_152383.5(DIS3L2):c.951-8A>G rs886055770
NM_152564.5(VPS13B):c.10011C>G (p.Ile3337Met) rs542986432
NM_152564.5(VPS13B):c.10129C>T (p.Leu3377Phe) rs535553836
NM_152564.5(VPS13B):c.11244G>A (p.Pro3748=) rs375229257
NM_152564.5(VPS13B):c.1371T>G (p.Leu457=) rs1810005490
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=) rs540795071
NM_152564.5(VPS13B):c.4746-13G>A rs561446691
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser) rs563705133
NM_152564.5(VPS13B):c.5908+14A>C rs886062543
NM_152564.5(VPS13B):c.7461C>T (p.Ser2487=) rs751190453
NM_153006.3(NAGS):c.630C>T (p.Asn210=) rs2049080644
NM_153006.3(NAGS):c.681C>G (p.Ala227=) rs886052982
NM_153006.3(NAGS):c.807C>T (p.Ser269=) rs767368629
NM_153033.5(KCTD7):c.291C>T (p.Ile97=) rs769023482
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153603.4(COG7):c.1005C>T (p.His335=) rs532636981
NM_153603.4(COG7):c.1305T>C (p.Asp435=) rs1019861391
NM_153638.4(PANK2):c.54A>G (p.Ser18=) rs886056650
NM_172201.2(KCNE2):c.*11A>C rs558860396
NM_174878.3(CLRN1):c.*277GT[16] rs34027634
NM_174889.5(NDUFAF2):c.491del (p.Gly164fs) rs753595274
NM_174936.4(PCSK9):c.1099G>C (p.Asp367His) rs141867978
NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)
NM_175914.5(HNF4A):c.224+17dup rs371937621
NM_177438.3(DICER1):c.1080A>G (p.Glu360=) rs886050943
NM_177438.3(DICER1):c.1089C>T (p.Phe363=) rs878855239
NM_177438.3(DICER1):c.3690G>A (p.Gln1230=) rs1555369473
NM_177438.3(DICER1):c.4795C>T (p.Arg1599Trp) rs587778230
NM_181426.2(CCDC39):c.654T>C (p.Asn218=) rs886058199
NM_182760.4(SUMF1):c.16C>T (p.Leu6=) rs774160105
NM_182760.4(SUMF1):c.177C>T (p.Gly59=) rs774739457
NM_182760.4(SUMF1):c.955-6C>G rs886058518
NM_182894.3(VSX2):c.760+11G>A rs777886580
NM_182894.3(VSX2):c.777G>T (p.Ser259=) rs371707151
NM_182894.3(VSX2):c.810C>G (p.Pro270=) rs759166720
NM_182914.3(SYNE2):c.17784G>A (p.Glu5928=) rs572217007
NM_182914.3(SYNE2):c.4398-11T>A rs2096801796
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=) rs376293687
NM_183050.4(BCKDHB):c.51A>G (p.Ala17=) rs376293687
NM_194454.3(KRIT1):c.845+10C>G rs372125478
NM_198506.5(LRIT3):c.1752_1754del (p.Leu585del) rs145776307
NM_198525.3(KIF7):c.2059C>A (p.Arg687=) rs138736028
NM_198525.3(KIF7):c.2079C>T (p.Val693=) rs113112856
NM_198525.3(KIF7):c.2337G>A (p.Glu779=) rs202089770
NM_198525.3(KIF7):c.2421G>A (p.Thr807=) rs141497185
NM_198525.3(KIF7):c.3319-13G>A rs371154050
NM_198525.3(KIF7):c.3519C>T (p.Asp1173=) rs778389919
NM_198525.3(KIF7):c.418C>T (p.Leu140=) rs756117745
NM_198525.3(KIF7):c.960G>A (p.Thr320=) rs886051538
NM_198578.4(LRRK2):c.606C>T (p.Asn202=) rs199854074
NM_198578.4(LRRK2):c.7296C>G (p.Gly2432=) rs199964631
NM_198586.3(NHLRC1):c.195C>A (p.Ala65=) rs370573413
NM_198904.4(GABRG2):c.1425G>A (p.Leu475=) rs886060383
NM_198904.4(GABRG2):c.402C>G (p.Val134=) rs562384157
NM_199242.3(UNC13D):c.147C>G (p.Pro49=) rs749672259
NM_199242.3(UNC13D):c.147C>T (p.Pro49=) rs749672259
NM_199242.3(UNC13D):c.1758C>T (p.His586=) rs759891490
NM_199242.3(UNC13D):c.629T>G (p.Val210Gly) rs553365957
NM_206933.4(USH2A):c.4252-36CTTT[7] rs372388546
NM_206965.2(FTCD):c.1540-17_1540-16del rs747091513
NM_207034.3(EDN3):c.*148_*149del rs11475273
NM_207122.2(EXT2):c.198G>C (p.Val66=) rs775542605
NM_213599.3(ANO5):c.*3290G>C rs142126223
NM_213599.3(ANO5):c.138+10G>A rs78987921
NM_213599.3(ANO5):c.2688C>G (p.Ala896=) rs377549896
NM_213653.4(HJV):c.345C>T (p.Ile115=) rs142575526
Single allele

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