ClinVar Miner

List of variants reported as likely benign by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 8086
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950 0.56732
NM_006073.4(TRDN):c.383C>G (p.Thr128Ser) rs9490809 0.50546
NM_013266.4(CTNNA3):c.1787G>A (p.Ser596Asn) rs4548513 0.47526
NM_001386140.1(MTTP):c.891C>G (p.His297Gln) rs2306985 0.47212
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu) rs1135688 0.47045
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe) rs1801195 0.46398
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492 0.44551
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) rs2496425 0.43515
NM_025074.7(FRAS1):c.2450C>T (p.Ala817Val) rs6835769 0.43382
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr) rs7079481 0.40619
NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu) rs10823148 0.39447
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn) rs10997975 0.39270
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368 0.39095
NM_032578.4(MYPN):c.2120G>A (p.Ser707Asn) rs7916821 0.39079
NM_001042545.2(LTBP4):c.3221C>T (p.Thr1074Met) rs10880 0.39072
NM_005956.4(MTHFD1):c.1958G>A (p.Arg653Gln) rs2236225 0.38175
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser) rs9493627 0.37885
NM_000104.4(CYP1B1):c.142C>G (p.Arg48Gly) rs10012 0.36324
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) rs1001238 0.35628
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val) rs2042995 0.35566
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746 0.35516
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377 0.35383
NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser) rs1056827 0.35167
NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln) rs4710457 0.35152
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996 0.34979
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys) rs4148211 0.34608
NM_153700.2(STRC):c.179T>C (p.Phe60Ser) rs2729509 0.34286
NM_005751.5(AKAP9):c.8375A>G (p.Asn2792Ser) rs6960867 0.33817
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn) rs10891314 0.32172
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) rs13181 0.31719
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647 0.31278
NM_005050.4(ABCD4):c.1102G>A (p.Glu368Lys) rs3742801 0.30506
NM_001492.6(GDF1):c.353C>T (p.Ala118Val) rs4808863 0.30267
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043 0.29094
NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala) rs4774 0.27935
NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile) rs9353806 0.27343
NM_001395413.1(POR):c.1499C>T (p.Ala500Val) rs1057868 0.26722
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175 0.26545
NM_000492.4(CFTR):c.3367+246C>T rs2188149 0.26366
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793 0.26310
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_014844.5(TECPR2):c.2047A>G (p.Ile683Val) rs10149146 0.25663
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln) rs3748361 0.25511
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro) rs1051338 0.25399
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602 0.24593
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746 0.24029
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838 0.23912
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) rs1346044 0.22492
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303 0.21786
NM_006514.4(SCN10A):c.3275T>C (p.Leu1092Pro) rs12632942 0.21722
NM_032588.4(TRIM63):c.709A>G (p.Lys237Glu) rs2275950 0.21674
NM_001105206.3(LAMA4):c.3356C>G (p.Pro1119Arg) rs1050349 0.21500
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His) rs36051007 0.21486
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674 0.21485
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu) rs6720173 0.21159
NM_006514.4(SCN10A):c.2884A>G (p.Ile962Val) rs57326399 0.20797
NM_000270.4(PNP):c.151G>A (p.Gly51Ser) rs1049564 0.20682
NM_080424.4(SP110):c.617C>T (p.Ala206Val) rs28930679 0.20608
NM_020778.5(ALPK3):c.4259T>C (p.Leu1420Pro) rs187316 0.20037
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209 0.19521
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_006929.5(SKIC2):c.3212C>T (p.Ala1071Val) rs449643 0.19166
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile) rs11120616 0.19146
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19072
NM_020778.5(ALPK3):c.635C>G (p.Thr212Ser) rs3803403 0.19072
NM_012082.4(ZFPM2):c.1208C>G (p.Ala403Gly) rs11993776 0.18341
NM_020778.5(ALPK3):c.1130G>A (p.Gly377Glu) rs3803405 0.18268
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His) rs72646967 0.17704
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528 0.17598
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) rs35813871 0.17564
NM_020549.5(CHAT):c.358G>A (p.Ala120Thr) rs3810950 0.17408
NM_006073.4(TRDN):c.1257C>A (p.Asp419Glu) rs17737379 0.17356
NM_053025.4(MYLK):c.62C>A (p.Pro21His) rs28497577 0.17349
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile) rs17720303 0.16644
NM_006073.4(TRDN):c.1211T>G (p.Val404Gly) rs28494009 0.16504
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388 0.16468
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166 0.16435
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164 0.16204
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492 0.15938
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465 0.15861
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly) rs2230028 0.15795
NM_053025.4(MYLK):c.782T>C (p.Val261Ala) rs3796164 0.15515
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) rs2234962 0.14532
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749 0.14445
NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu) rs2493292 0.14386
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val) rs1545 0.14147
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser) rs2273285 0.14145
NM_000085.5(CLCNKB):c.1441A>T (p.Thr481Ser) rs12140311 0.13867
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_000235.4(LIPA):c.67G>A (p.Gly23Arg) rs1051339 0.13459
NM_006904.7(PRKDC):c.10301T>C (p.Ile3434Thr) rs7830743 0.13382
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406 0.13367
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569 0.13356
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747 0.13294
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426 0.13213
NM_001368809.2(AMPD2):c.82G>A (p.Ala28Thr) rs28362581 0.13084
NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg) rs61753610 0.12981
NM_001148.6(ANK2):c.7106T>C (p.Val2369Ala) rs28377576 0.12654
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr) rs2235491 0.12316
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln) rs17852293 0.12044
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440 0.11965
NM_006929.5(SKIC2):c.452A>G (p.Gln151Arg) rs438999 0.11951
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11916
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro) rs3732486 0.11664
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met) rs747122 0.11550
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347 0.11354
NM_033380.3(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946 0.11020
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538 0.10360
NM_012282.4(KCNE5):c.97C>T (p.Pro33Ser) rs17003955 0.10059
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_005751.5(AKAP9):c.7451A>G (p.Lys2484Arg) rs35759833 0.09968
NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr) rs62415828 0.09865
NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met) rs36086089 0.09592
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu) rs1801688 0.09526
NM_001367624.2(ZNF469):c.1489G>A (p.Gly497Arg) rs28723506 0.09509
NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys) rs13334190 0.09442
NM_001243279.3(ACSF3):c.854C>T (p.Pro285Leu) rs143793502 0.09373
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys) rs1801687 0.09261
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr) rs3807153 0.09195
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_006073.4(TRDN):c.1408C>A (p.Leu470Met) rs6569336 0.09024
NM_006514.4(SCN10A):c.1525T>C (p.Ser509Pro) rs7630989 0.08988
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys) rs34312154 0.08810
NM_080424.4(SP110):c.619G>A (p.Glu207Lys) rs9061 0.08779
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp) rs2306986 0.08726
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_005094.4(SLC27A4):c.625G>A (p.Gly209Ser) rs2240953 0.08653
NM_012082.4(ZFPM2):c.2346G>C (p.Glu782Asp) rs2920048 0.08600
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr) rs4893852 0.08349
NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser) rs3792683 0.08314
NM_001374385.1(ATP8B1):c.2855G>A (p.Arg952Gln) rs12968116 0.08072
NM_001374623.1(PNPLA1):c.863A>G (p.Glu288Gly) rs34598813 0.07866
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu) rs13398235 0.07839
NM_000553.6(WRN):c.340G>A (p.Val114Ile) rs2230009 0.07797
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys) rs16945474 0.07291
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu) rs6723526 0.07129
NM_005050.4(ABCD4):c.176A>G (p.Gln59Arg) rs58272575 0.07062
NM_203447.4(DOCK8):c.5908G>C (p.Ala1970Pro) rs34908836 0.07052
NM_005050.4(ABCD4):c.383C>T (p.Ala128Val) rs61744947 0.06981
NM_001386393.1(PANK2):c.2T>A rs71647828 0.06976
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn) rs17849848 0.06910
NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys) rs6756629 0.06901
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu) rs3732487 0.06754
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534 0.06566
NM_003640.5(ELP1):c.545T>A (p.Met182Lys) rs10521092 0.06528
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591 0.06414
NM_005050.4(ABCD4):c.514G>A (p.Val172Ile) rs34992370 0.06330
NM_001458.5(FLNC):c.4700G>A (p.Arg1567Gln) rs2291569 0.06258
NM_003742.4(ABCB11):c.2029A>G (p.Met677Val) rs11568364 0.06201
NM_012082.4(ZFPM2):c.3164C>T (p.Ala1055Val) rs16873741 0.06184
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571 0.06134
NM_033453.4(ITPA):c.94C>A (p.Pro32Thr) rs1127354 0.06104
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374 0.05837
NM_006393.3(NEBL):c.1051A>G (p.Met351Val) rs4025981 0.05741
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048 0.05739
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala) rs16866378 0.05725
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr) rs2229738 0.05682
NM_006393.3(NEBL):c.1962T>A (p.Asn654Lys) rs4748728 0.05648
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217 0.05644
NM_001010874.5(TECRL):c.133C>T (p.Pro45Ser) rs61744866 0.05584
NM_006393.3(NEBL):c.1132G>C (p.Asp378His) rs41277370 0.05503
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679 0.05446
NM_144670.6(A2ML1):c.3569C>T (p.Ala1190Val) rs73040625 0.05426
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) rs1800067 0.05364
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811 0.05253
NM_001082971.2(DDC):c.1385G>A (p.Arg462Gln) rs11575542 0.05076
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg) rs4893853 0.05020
NM_206937.2(LIG4):c.8C>T (p.Ala3Val) rs1805389 0.04996
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln) rs17679445 0.04944
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn) rs2306636 0.04907
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888 0.04798
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) rs12476289 0.04792
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_020549.5(CHAT):c.727C>T (p.Leu243Phe) rs8178990 0.04717
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_057176.3(BSND):c.127G>A (p.Val43Ile) rs34561376 0.04587
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) rs28374544 0.04474
NM_005477.3(HCN4):c.107G>A (p.Gly36Glu) rs143090627 0.04452
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg) rs116482870 0.04448
NM_003721.4(RFXANK):c.144G>C (p.Glu48Asp) rs34282046 0.04400
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_032122.5(DTNBP1):c.814C>T (p.Pro272Ser) rs17470454 0.04338
NM_001105206.3(LAMA4):c.460C>T (p.Arg154Trp) rs11757455 0.04245
NM_018418.5(SPATA7):c.1601G>A (p.Arg534Gln) rs10139784 0.04245
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04075
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu) rs16866380 0.04073
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243 0.04071
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465 0.03966
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu) rs17599091 0.03958
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504 0.03941
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752 0.03923
NM_000497.4(CYP11B1):c.128G>A (p.Arg43Gln) rs4534 0.03864
NM_018418.5(SPATA7):c.971G>A (p.Gly324Glu) rs17124677 0.03851
NM_006258.4(PRKG1):c.845A>G (p.Asn282Ser) rs34997494 0.03846
NM_018418.5(SPATA7):c.284A>G (p.Gln95Arg) rs61747004 0.03845
NM_018418.5(SPATA7):c.357T>G (p.Phe119Leu) rs35137272 0.03845
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_018418.5(SPATA7):c.494G>A (p.Ser165Asn) rs17124662 0.03831
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile) rs2278196 0.03742
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412 0.03700
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324 0.03639
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_000433.4(NCF2):c.1167C>A (p.His389Gln) rs17849502 0.03605
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val) rs72646881 0.03550
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile) rs67665715 0.03523
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr) rs11896637 0.03502
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531 0.03468
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271 0.03441
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03418
NM_020632.3(ATP6V0A4):c.1888G>A (p.Ala630Thr) rs73730479 0.03401
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser) rs2230795 0.03328
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03303
NM_014844.5(TECPR2):c.2050C>G (p.Leu684Val) rs45467297 0.03285
NM_001379610.1(SPINK1):c.36G>C (p.Leu12Phe) rs35877720 0.03139
NM_001369369.1(FOXN1):c.1288C>T (p.Pro430Ser) rs61749867 0.03097
NM_005956.4(MTHFD1):c.2305C>T (p.Leu769Phe) rs17857382 0.03087
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_014476.6(PDLIM3):c.379G>A (p.Val127Met) rs11944325 0.02959
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_194248.3(OTOF):c.158C>T (p.Ala53Val) rs1879761 0.02762
NM_001039876.3(SYNE4):c.523G>C (p.Ala175Pro) rs77925409 0.02760
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) rs115532916 0.02662
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr) rs34878020 0.02621
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374 0.02616
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln) rs8187801 0.02594
NM_001349253.2(SCN11A):c.1442G>A (p.Gly481Glu) rs13059805 0.02575
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_022437.3(ABCG8):c.239G>A (p.Cys80Tyr) rs80025980 0.02513
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg) rs34717730 0.02506
NM_004525.3(LRP2):c.2006G>A (p.Gly669Asp) rs34291900 0.02496
NM_001136271.3(NKX2-6):c.386C>A (p.Ala129Glu) rs143039156 0.02484
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961 0.02475
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288 0.02435
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040 0.02403
NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser) rs112028242 0.02391
NM_013266.4(CTNNA3):c.1655C>T (p.Thr552Met) rs61737718 0.02389
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His) rs72648970 0.02369
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201 0.02363
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) rs113337987 0.02355
NM_020778.5(ALPK3):c.3628C>T (p.Arg1210Trp) rs55752937 0.02339
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn) rs726070 0.02339
NM_020320.5(RARS2):c.991A>G (p.Ile331Val) rs3757370 0.02330
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355 0.02232
NM_020778.5(ALPK3):c.1199A>G (p.Gln400Arg) rs55702300 0.02213
NM_014244.5(ADAMTS2):c.701A>G (p.Asp234Gly) rs59567206 0.02208
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064 0.02197
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293 0.02196
NM_006261.5(PROP1):c.174G>A (p.Pro58=) rs2233784 0.02188
NM_004628.5(XPC):c.142C>T (p.Leu48Phe) rs2229089 0.02177
NM_003701.4(TNFSF11):c.107C>G (p.Pro36Arg) rs138818878 0.02149
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869 0.02132
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780 0.02113
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys) rs16990264 0.02084
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563 0.02080
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val) rs16957538 0.02076
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832 0.02072
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly) rs72648982 0.02056
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995 0.02035
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met) rs41312104 0.02014
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245 0.01993
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860 0.01992
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) rs72648257 0.01992
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745 0.01991
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala) rs41277212 0.01991
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246 0.01989
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296 0.01985
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600 0.01984
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221 0.01984
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177 0.01951
NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser) rs117781224 0.01941
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp) rs309369 0.01932
NM_013266.4(CTNNA3):c.478T>A (p.Ser160Thr) rs61749223 0.01916
NM_000228.3(LAMB3):c.2723C>T (p.Thr908Ile) rs61753424 0.01891
NM_014476.6(PDLIM3):c.734C>T (p.Thr245Ile) rs62347360 0.01871
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg) rs62620248 0.01839
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val) rs114331773 0.01832
NM_006514.4(SCN10A):c.3133C>A (p.Pro1045Thr) rs73062575 0.01804
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375 0.01781
NM_006502.3(POLH):c.1783A>G (p.Met595Val) rs9333555 0.01768
NM_020778.5(ALPK3):c.4064C>A (p.Ala1355Asp) rs34775428 0.01753
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288 0.01748
NM_002838.5(PTPRC):c.577A>G (p.Thr193Ala) rs4915154 0.01733
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402 0.01724
NM_001105206.3(LAMA4):c.280G>A (p.Gly94Ser) rs35349917 0.01717
NM_199242.3(UNC13D):c.2782C>T (p.Arg928Cys) rs35037984 0.01713
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962 0.01709
NM_152750.5(CDHR3):c.1653+3G>A rs117797654 0.01697
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01678
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys) rs77697105 0.01678
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954 0.01649
NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp) rs75366116 0.01644
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166 0.01640
NM_001267550.2(TTN):c.98164A>T (p.Ile32722Phe) rs72648270 0.01635
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val) rs56376197 0.01633
NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly) rs4986888 0.01612
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087 0.01611
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile) rs35228363 0.01598
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_012452.3(TNFRSF13B):c.659T>C (p.Val220Ala) rs56063729 0.01586
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592 0.01574
NM_000124.4(ERCC6):c.2825C>T (p.Thr942Met) rs2228525 0.01573
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) rs41288773 0.01560
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875 0.01559
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_001105206.3(LAMA4):c.4646A>G (p.Asn1549Ser) rs12110554 0.01544
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748 0.01542
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427 0.01542
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910 0.01504
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys) rs62618736 0.01503
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_001139.3(ALOX12B):c.379C>T (p.Pro127Ser) rs72842957 0.01485
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414 0.01477
NM_000085.5(CLCNKB):c.1877G>A (p.Cys626Tyr) rs143663847 0.01456
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01455
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala) rs12493789 0.01436
NM_000448.3(RAG1):c.189A>G (p.Pro63=) rs34357808 0.01436
NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585 0.01429
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391 0.01426
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01420
NM_199242.3(UNC13D):c.175G>A (p.Ala59Thr) rs9904366 0.01403
NM_000448.3(RAG1):c.2638G>A (p.Glu880Lys) rs4151033 0.01395
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453 0.01388
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262 0.01372
NM_001164508.2(NEB):c.195G>A (p.Pro65=) rs79524813 0.01367
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01363
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457 0.01351
NM_006514.4(SCN10A):c.618A>G (p.Ile206Met) rs74717885 0.01345
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748 0.01336
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) rs116779216 0.01318
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869 0.01305
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr) rs78183930 0.01302
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475 0.01294
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=) rs116098879 0.01291
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_000209.4(PDX1):c.162G>A (p.Leu54=) rs28509441 0.01287
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01285
NM_000433.4(NCF2):c.890T>C (p.Val297Ala) rs35937854 0.01284
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val) rs3759873 0.01282
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_138694.4(PKHD1):c.1234-5C>T rs116124750 0.01262
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877 0.01259
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949 0.01253
NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg) rs36044314 0.01250
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_000096.4(CP):c.2378G>A (p.Arg793His) rs115552500 0.01239
NM_006929.5(SKIC2):c.970C>T (p.Arg324Trp) rs36038685 0.01237
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu) rs79708848 0.01235
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val) rs115977487 0.01228
NM_006073.4(TRDN):c.1016G>A (p.Ser339Asn) rs35766971 0.01214
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser) rs72629779 0.01213
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01212
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069 0.01203
NM_001164508.2(NEB):c.23511G>A (p.Thr7837=) rs35808744 0.01201
NM_004525.3(LRP2):c.13250G>A (p.Gly4417Asp) rs41268685 0.01191
NM_206933.4(USH2A):c.688G>A (p.Val230Met) rs45500891 0.01191
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile) rs72650028 0.01184
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_022725.4(FANCF):c.959C>T (p.Pro320Leu) rs45451294 0.01158
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) rs62621206 0.01151
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_001371904.1(APOA5):c.111C>A (p.Asp37Glu) rs34282181 0.01131
NM_001711.6(BGN):c.257A>G (p.Lys86Arg) rs146073993 0.01131
NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr) rs12720442 0.01115
NM_006393.3(NEBL):c.656C>A (p.Ala219Asp) rs2296610 0.01104
NM_001164688.2(RD3):c.584A>T (p.Asp195Val) rs143207434 0.01101
NM_001360.3(DHCR7):c.570C>T (p.Ala190=) rs74909468 0.01097
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val) rs12484657 0.01096
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu) rs77853750 0.01096
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284 0.01093
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001371596.2(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943 0.01088
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080
NM_004006.3(DMD):c.1225A>T (p.Thr409Ser) rs34155804 0.01079
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser) rs77555300 0.01077
NM_020778.5(ALPK3):c.401G>A (p.Arg134His) rs34407151 0.01062
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_013266.4(CTNNA3):c.1603C>T (p.Arg535Cys) rs41274090 0.01060
NM_032578.4(MYPN):c.2447C>T (p.Pro816Leu) rs111965755 0.01059
NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala) rs17850455 0.01048
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748 0.01047
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615 0.01042
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His) rs35523678 0.01028
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) rs117761837 0.01028
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310 0.01022
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850 0.01020
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314 0.01013
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272 0.01007
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078 0.00993
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930 0.00987
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) rs142735148 0.00983
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892 0.00979
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00972
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099 0.00971
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771 0.00967
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) rs111347025 0.00958
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) rs1007211 0.00957
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766 0.00948
NM_000286.3(PEX12):c.733T>A (p.Leu245Ile) rs12941376 0.00945
NM_000137.4(FAH):c.483C>T (p.Gly161=) rs116272698 0.00943
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val) rs181785233 0.00939
NM_020366.4(RPGRIP1):c.256C>T (p.Arg86Trp) rs62646879 0.00919
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787 0.00909
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_006073.4(TRDN):c.403G>A (p.Glu135Lys) rs192289289 0.00900
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) rs11570680 0.00890
NM_006393.3(NEBL):c.2057T>C (p.Val686Ala) rs74120667 0.00888
NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile) rs34224785 0.00886
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
NM_022437.3(ABCG8):c.51C>A (p.Pro17=) rs72647316 0.00868
NM_000243.3(MEFV):c.2118G>A (p.Pro706=) rs2234939 0.00864
NM_004646.4(NPHS1):c.881C>T (p.Thr294Ile) rs113825926 0.00863
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln) rs56054534 0.00860
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_006393.3(NEBL):c.2182A>G (p.Thr728Ala) rs71535732 0.00843
NM_000552.5(VWF):c.2900G>A (p.Gly967Asp) rs141087261 0.00842
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240 0.00835
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600 0.00828
NM_003924.4(PHOX2B):c.750G>A (p.Ala250=) rs17882335 0.00827
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417 0.00822
NM_000733.4(CD3E):c.507C>T (p.Gly169=) rs2231447 0.00816
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_006393.3(NEBL):c.191A>G (p.Lys64Arg) rs71578975 0.00786
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser) rs28763945 0.00784
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974 0.00778
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356 0.00774
NM_003764.4(STX11):c.146G>A (p.Arg49Gln) rs17073498 0.00767
NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn) rs34093919 0.00763
NM_006019.4(TCIRG1):c.2476G>A (p.Ala826Thr) rs75596506 0.00755
NM_004744.5(LRAT):c.74T>A (p.Phe25Tyr) rs75368761 0.00748
NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr) rs59172778 0.00742
NM_000061.3(BTK):c.531T>C (p.Pro177=) rs148358153 0.00738
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His) rs36084488 0.00738
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509 0.00737
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln) rs183329050 0.00737
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln) rs56332208 0.00731
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys) rs146953558 0.00728
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) rs77351975 0.00719
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln) rs72646851 0.00718
NM_000170.3(GLDC):c.319A>G (p.Met107Val) rs138454333 0.00707
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys) rs72646833 0.00702
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu) rs72648976 0.00701
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165 0.00694
NM_022436.3(ABCG5):c.775-10G>T rs114549158 0.00688
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_000089.4(COL1A2):c.3018C>T (p.Gly1006=) rs62001059 0.00679
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_022437.3(ABCG8):c.1365C>T (p.Ile455=) rs115227860 0.00675
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys) rs535143891 0.00670
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896 0.00668
NM_000416.3(IFNGR1):c.489C>T (p.Pro163=) rs41288981 0.00668
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705 0.00667
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960 0.00666
NM_148897.3(SDR9C7):c.55C>G (p.Leu19Val) rs74397593 0.00661
NM_005677.4(COLQ):c.1108G>A (p.Asp370Asn) rs116373583 0.00649
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744 0.00645
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194 0.00641
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242 0.00641
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr) rs142835596 0.00637
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00634
NM_000416.3(IFNGR1):c.42G>A (p.Val14=) rs17181471 0.00633
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) rs558770240 0.00630
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp) rs61746568 0.00630
NM_000543.5(SMPD1):c.1625G>A (p.Arg542Gln) rs113467489 0.00629
NM_001206744.2(TPO):c.2305C>T (p.Arg769Trp) rs114406277 0.00629
NM_000302.4(PLOD1):c.975+13C>T rs79345327 0.00627
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys) rs115232898 0.00622
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) rs12720445 0.00612
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773 0.00608
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895 0.00606
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln) rs76756898 0.00599
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 0.00598
NM_021098.3(CACNA1H):c.5113G>A (p.Ala1705Thr) rs148651456 0.00596
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser) rs16866477 0.00593
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424 0.00587
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250 0.00587
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu) rs116307796 0.00586
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr) rs72648946 0.00585
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676 0.00583
NM_005751.5(AKAP9):c.9092A>G (p.Gln3031Arg) rs61757673 0.00583
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684 0.00574
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815 0.00573
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441 0.00569
NM_000089.4(COL1A2):c.948C>T (p.Gly316=) rs34511999 0.00566
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=) rs34940368 0.00563
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr) rs111309246 0.00557
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_003764.4(STX11):c.799G>A (p.Val267Met) rs45574234 0.00545
NM_022437.3(ABCG8):c.1963A>G (p.Met655Val) rs9282573 0.00542
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717 0.00536
NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser) rs115681466 0.00535
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly) rs115242287 0.00534
NM_006393.3(NEBL):c.1861A>G (p.Ile621Val) rs79718972 0.00532
NM_005609.4(PYGM):c.645G>A (p.Lys215=) rs116315896 0.00530
NM_001164508.2(NEB):c.17304G>A (p.Leu5768=) rs35273905 0.00526
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys) rs6476 0.00523
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg) rs16980929 0.00520
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00519
NM_000152.5(GAA):c.2646+55G>T rs141765552 0.00517
NM_003172.4(SURF1):c.604G>C (p.Asp202His) rs72619327 0.00517
NM_030777.4(SLC2A10):c.1617G>A (p.Ala539=) rs114974138 0.00514
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_014697.3(NOS1AP):c.864C>T (p.Ser288=) rs77473623 0.00513
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_005585.5(SMAD6):c.61G>A (p.Asp21Asn) rs188799901 0.00505
NM_006393.3(NEBL):c.11C>T (p.Pro4Leu) rs114918858 0.00501
NM_000302.4(PLOD1):c.76+17C>T rs113691754 0.00498
NM_000157.4(GBA1):c.1092G>A (p.Gly364=) rs143222798 0.00497
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=) rs113282901 0.00497
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser) rs144922355 0.00496
NM_005502.4(ABCA1):c.2602G>A (p.Glu868Lys) rs35207495 0.00496
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00493
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_000091.5(COL4A3):c.346C>A (p.Pro116Thr) rs115324397 0.00485
NM_000243.3(MEFV):c.2163C>T (p.Phe721=) rs11466047 0.00484
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser) rs61733294 0.00484
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963 0.00481
NM_000088.4(COL1A1):c.612C>T (p.Pro204=) rs138078016 0.00480
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060 0.00478
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143 0.00475
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670 0.00470
NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu) rs16991652 0.00468
NM_000404.4(GLB1):c.1577G>A (p.Gly526Asp) rs147332381 0.00464
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 0.00461
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) rs140374206 0.00461
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu) rs34563188 0.00460
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys) rs201487340 0.00458
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala) rs281865461 0.00458
NM_017636.4(TRPM4):c.755G>A (p.Arg252His) rs146564314 0.00453
NM_138694.4(PKHD1):c.11738G>A (p.Arg3913His) rs2661487 0.00453
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_001164508.2(NEB):c.12147G>A (p.Lys4049=) rs149639365 0.00441
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_002234.4(KCNA5):c.929C>T (p.Pro310Leu) rs17215402 0.00439
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser) rs77731085 0.00439
NM_000416.3(IFNGR1):c.1004A>C (p.His335Pro) rs17175350 0.00438
NM_004006.3(DMD):c.1718C>T (p.Ala573Val) rs5972599 0.00436
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) rs7914192 0.00426
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu) rs74315344 0.00425
NM_000391.4(TPP1):c.42C>A (p.Ile14=) rs35903915 0.00419
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) rs121909362 0.00410
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala) rs116592778 0.00406
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln) rs35669708 0.00406
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365 0.00404
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894 0.00404
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00404
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00400
NM_000552.5(VWF):c.5170+10C>T rs61750601 0.00400
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
NM_005502.4(ABCA1):c.651A>G (p.Leu217=) rs9282538 0.00399
NM_001267550.2(TTN):c.15850G>A (p.Val5284Met) rs66839174 0.00398
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn) rs61729495 0.00394
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg) rs140566084 0.00391
NM_025074.7(FRAS1):c.5665+18A>T rs140398472 0.00387
NM_020778.5(ALPK3):c.2595C>T (p.Pro865=) rs114957070 0.00386
NM_022114.4(PRDM16):c.3130C>T (p.Leu1044Phe) rs187400273 0.00386
NM_003172.4(SURF1):c.883C>T (p.Arg295Cys) rs147312193 0.00385
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn) rs41277374 0.00382
NM_020778.5(ALPK3):c.2530C>T (p.Pro844Ser) rs115292211 0.00382
NM_022437.3(ABCG8):c.1716C>T (p.Leu572=) rs116046586 0.00382
NM_022437.3(ABCG8):c.1782C>T (p.Ser594=) rs139835626 0.00382
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921 0.00380
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met) rs146590898 0.00379
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_000071.3(CBS):c.1039+19C>T rs182908734 0.00373
NM_002335.4(LRP5):c.4635C>T (p.Thr1545=) rs145406397 0.00373
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932 0.00371
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_000243.3(MEFV):c.42G>A (p.Glu14=) rs113314808 0.00369
NM_000153.4(GALC):c.1006G>A (p.Val336Met) rs185073540 0.00368
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_175914.5(HNF4A):c.696C>T (p.His232=) rs150078978 0.00365
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_030777.4(SLC2A10):c.1212G>T (p.Gly404=) rs139155480 0.00363
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679 0.00362
NM_001378454.1(ALMS1):c.1182T>C (p.Tyr394=) rs139512700 0.00361
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_003238.6(TGFB2):c.1239C>T (p.Cys413=) rs141225367 0.00359
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_014336.5(AIPL1):c.140C>G (p.Thr47Arg) rs150656720 0.00357
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984 0.00352
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala) rs9282543 0.00352
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099 0.00351
NM_003235.5(TG):c.325A>G (p.Ile109Val) rs35301433 0.00350
NM_012186.3(FOXE3):c.898A>G (p.Ser300Gly) rs552420470 0.00350
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly) rs35605307 0.00349
NM_020778.5(ALPK3):c.4474G>A (p.Ala1492Thr) rs114449938 0.00349
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764 0.00347
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435 0.00346
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116 0.00343
NM_001363711.2(DUOX2):c.1921G>A (p.Glu641Lys) rs139161034 0.00343
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
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_000243.3(MEFV):c.333G>A (p.Gly111=) rs61732425 0.00339
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 0.00338
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter) rs116131367 0.00337
NM_148897.3(SDR9C7):c.215G>A (p.Arg72Gln) rs61743538 0.00334
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193 0.00333
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00332
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_012186.3(FOXE3):c.601G>A (p.Val201Met) rs530072475 0.00329
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756 0.00328
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00327
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=) rs140781855 0.00325
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891 0.00322
NR_003051.4(RMRP):n.129G>C rs74810894 0.00319
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro) rs72650032 0.00317
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612 0.00315
NM_004628.5(XPC):c.2066C>T (p.Thr689Met) rs3731152 0.00315
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=) rs146120912 0.00314
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938 0.00313
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00309
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly) rs72648931 0.00307
NM_000243.3(MEFV):c.-15C>G rs11466015 0.00306
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795 0.00306
NM_006073.4(TRDN):c.1510G>A (p.Gly504Ser) rs150531306 0.00305
NM_000383.4(AIRE):c.1116G>A (p.Ser372=) rs61737006 0.00304
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028 0.00303
NM_000397.4(CYBB):c.654C>A (p.Gly218=) rs35080474 0.00303
NM_000407.5(GP1BB):c.389C>T (p.Pro130Leu) rs547921381 0.00302
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His) rs34295241 0.00302
NM_001063.4(TF):c.2012G>A (p.Gly671Glu) rs121918677 0.00299
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024 0.00299
NM_001378454.1(ALMS1):c.10464A>G (p.Val3488=) rs28730858 0.00297
NM_001458.5(FLNC):c.2078A>C (p.Asp693Ala) rs34972246 0.00297
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val) rs142729919 0.00296
NM_002691.4(POLD1):c.778A>G (p.Ile260Val) rs8105725 0.00295
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00292
NM_001458.5(FLNC):c.8003T>C (p.Met2668Thr) rs200502811 0.00291
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256 0.00290
NM_020778.5(ALPK3):c.5012C>T (p.Ala1671Val) rs36002219 0.00289
NM_000162.5(GCK):c.954G>C (p.Gly318=) rs145764627 0.00287
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=) rs142465959 0.00286
NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp) rs587780375 0.00286
NM_005215.4(DCC):c.2105A>G (p.Asn702Ser) rs35691189 0.00284
NM_005591.4(MRE11):c.1783+5G>C rs142082313 0.00284
NM_000518.5(HBB):c.*96T>C rs34029390 0.00283
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000552.5(VWF):c.4457C>T (p.Ser1486Leu) rs149424724 0.00282
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) rs181104321 0.00282
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386 0.00280
NM_004525.3(LRP2):c.92C>T (p.Ala31Val) rs144829356 0.00280
NM_005751.5(AKAP9):c.6134A>G (p.Asn2045Ser) rs139963188 0.00279
NM_001365276.2(TNXB):c.6544+8T>A rs150379644 0.00278
NM_014639.4(SKIC3):c.860A>G (p.Lys287Arg) rs145168629 0.00277
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly) rs35297226 0.00276
NM_203447.4(DOCK8):c.4019A>G (p.Tyr1340Cys) rs116920018 0.00276
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808 0.00275
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00274
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00274
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) rs72646840 0.00274
NM_000053.4(ATP7B):c.1707+29dup rs113829533 0.00273
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly) rs72648980 0.00273
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478 0.00272
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu) rs111866410 0.00271
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635 0.00271
NM_138694.4(PKHD1):c.6184C>T (p.Leu2062=) rs116156469 0.00271
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His) rs143832120 0.00271
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala) rs35238405 0.00270
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg) rs146165014 0.00270
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu) rs114435632 0.00269
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe) rs148663672 0.00269
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896 0.00267
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser) rs72647845 0.00265
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_017849.4(TMEM127):c.268G>A (p.Val90Met) rs121908823 0.00264
NM_001267550.2(TTN):c.70952T>G (p.Ile23651Ser) rs149075285 0.00263
NM_080669.6(SLC46A1):c.883A>G (p.Thr295Ala) rs34552966 0.00263
NM_000733.4(CD3E):c.498G>A (p.Ala166=) rs78373007 0.00262
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln) rs148468628 0.00262
NM_012452.3(TNFRSF13B):c.215G>A (p.Arg72His) rs55916807 0.00261
NM_006514.4(SCN10A):c.3803G>A (p.Arg1268Gln) rs138832868 0.00259
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000233.4(LHCGR):c.458+3A>G rs76210637 0.00257
NM_002303.6(LEPR):c.3417A>G (p.Ala1139=) rs61781316 0.00257
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00257
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr) rs137953986 0.00253
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp) rs1872267 0.00253
NM_000152.5(GAA):c.2481+16G>A rs41292408 0.00252
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) rs72646882 0.00252
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr) rs187194973 0.00252
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_000277.3(PAH):c.1315+20C>T rs190655222 0.00250
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027 0.00249
NM_000243.3(MEFV):c.1587+18C>T rs11466030 0.00248
NM_001360.3(DHCR7):c.399C>T (p.Ala133=) rs147424205 0.00248
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413 0.00248
NM_001177316.2(SLC34A3):c.679G>A (p.Ala227Thr) rs200814479 0.00246
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_001378454.1(ALMS1):c.2730C>T (p.His910=) rs189923349 0.00245
NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe) rs143584663 0.00245
NM_006946.4(SPTBN2):c.1416G>A (p.Thr472=) rs145249947 0.00245
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_001232.4(CASQ2):c.198G>A (p.Thr66=) rs74114618 0.00243
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_000096.4(CP):c.1430C>T (p.Pro477Leu) rs35331711 0.00242
NM_005751.5(AKAP9):c.1372G>C (p.Ala458Pro) rs143894795 0.00241
NM_021871.4(FGA):c.181-14C>T rs190703077 0.00240
NM_021871.4(FGA):c.300G>A (p.Lys100=) rs112877216 0.00240
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu) rs200350579 0.00238
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_000492.4(CFTR):c.3717+130_3717+131del rs4148721 0.00237
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn) rs75671029 0.00236
NM_000204.5(CFI):c.548A>G (p.His183Arg) rs75612300 0.00236
NM_015627.3(LDLRAP1):c.713G>A (p.Arg238Gln) rs148579379 0.00236
NM_000089.4(COL1A2):c.2700C>T (p.Ala900=) rs141688356 0.00235
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496 0.00235
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met) rs139415285 0.00235
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys) rs144090917 0.00234
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_006073.4(TRDN):c.430C>T (p.His144Tyr) rs79182520 0.00232
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_021628.3(ALOXE3):c.709T>A (p.Leu237Met) rs121434235 0.00230
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340 0.00230
NM_000277.3(PAH):c.441+20G>A rs111842675 0.00229
NM_006949.4(STXBP2):c.365G>A (p.Arg122His) rs144914451 0.00229
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432 0.00228
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608 0.00227
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val) rs141625744 0.00226
NM_001024613.4(FEZF1):c.937-10T>G rs369157481 0.00226
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_005002.5(NDUFA9):c.942A>G (p.Ile314Met) rs139674448 0.00225
NM_032578.4(MYPN):c.2236A>G (p.Thr746Ala) rs147287437 0.00225
NM_000016.6(ACADM):c.469-9A>G rs181322317 0.00223
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925 0.00223
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_000088.4(COL1A1):c.999C>T (p.Pro333=) rs62637627 0.00222
NM_000383.4(AIRE):c.1296G>A (p.Ala432=) rs144359012 0.00222
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504 0.00222
NM_032578.4(MYPN):c.3846T>A (p.Ser1282Arg) rs147659164 0.00222
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_004937.3(CTNS):c.116C>T (p.Ser39Leu) rs144751390 0.00219
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171 0.00218
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) rs114711705 0.00218
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544 0.00217
NM_005993.5(TBCD):c.1467A>G (p.Ala489=) rs139629551 0.00217
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_000416.3(IFNGR1):c.216A>G (p.Glu72=) rs141574133 0.00216
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946 0.00216
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861 0.00216
NM_000270.4(PNP):c.543G>C (p.Met181Ile) rs145773529 0.00215
NM_001267550.2(TTN):c.32367G>A (p.Lys10789=) rs79232842 0.00215
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_005502.4(ABCA1):c.2089G>A (p.Ala697Thr) rs114620717 0.00215
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411 0.00214
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266 0.00213
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val) rs35765535 0.00213
NM_000384.3(APOB):c.11833A>G (p.Thr3945Ala) rs1801698 0.00212
NM_001061.7(TBXAS1):c.1270C>T (p.Arg424Cys) rs5762 0.00212
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_004625.4(WNT7A):c.861G>A (p.Val287=) rs149962459 0.00210
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877 0.00208
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019 0.00206
NM_005534.4(IFNGR2):c.466A>C (p.Ile156Leu) rs121913208 0.00206
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile) rs11900987 0.00205
NM_000071.3(CBS):c.939G>A (p.Thr313=) rs2228298 0.00204
NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser) rs72648245 0.00203
NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser) rs147336515 0.00202
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037 0.00202
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu) rs121908108 0.00202
NM_001267550.2(TTN):c.46693G>T (p.Ala15565Ser) rs145520397 0.00201
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala) rs34018205 0.00201
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp) rs66785829 0.00200
NM_001384732.1(CPLANE1):c.8779A>G (p.Met2927Val) rs143626904 0.00200
NM_017617.5(NOTCH1):c.7289G>C (p.Gly2430Ala) rs36049318 0.00200
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089 0.00199
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966 0.00199
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val) rs115080759 0.00198
NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu) rs572545726 0.00198
NM_022436.3(ABCG5):c.1284C>T (p.Gly428=) rs143972075 0.00198
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_000053.4(ATP7B):c.3060+16G>T rs76163470 0.00196
NM_000153.4(GALC):c.1632T>C (p.Asp544=) rs9672064 0.00196
NM_000552.5(VWF):c.7059G>C (p.Glu2353Asp) rs112319661 0.00195
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln) rs35962301 0.00195
NM_000152.5(GAA):c.676C>G (p.Leu226Val) rs113085339 0.00193
NM_000500.9(CYP21A2):c.797C>T (p.Ala266Val) rs144029176 0.00193
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 0.00193
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255 0.00190
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser) rs191692293 0.00188
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580 0.00188
NM_001367624.2(ZNF469):c.7079C>T (p.Pro2360Leu) rs76389306 0.00188
NM_005188.4(CBL):c.1359A>C (p.Pro453=) rs34732429 0.00188
NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=) rs143276279 0.00187
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695 0.00187
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile) rs199859344 0.00187
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly) rs143191074 0.00187
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_001235.5(SERPINH1):c.722-13G>A rs116506210 0.00185
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr) rs182126530 0.00185
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu) rs199610834 0.00185
NM_001367624.2(ZNF469):c.5644G>A (p.Ala1882Thr) rs74032866 0.00185
NM_003000.3(SDHB):c.32G>A (p.Arg11His) rs111430410 0.00185
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NR_003051.3(RMRP):n.-3C>T rs138660393 0.00185
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948 0.00184
NM_014244.5(ADAMTS2):c.1488C>T (p.Phe496=) rs147438064 0.00184
NM_000237.3(LPL):c.456T>C (p.Asn152=) rs116678290 0.00183
NM_020433.5(JPH2):c.856A>G (p.Thr286Ala) rs144022614 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_001164508.2(NEB):c.18579+6T>C rs116189169 0.00180
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501 0.00179
NM_000129.4(F13A1):c.1730C>T (p.Thr577Met) rs143711562 0.00178
NM_000152.5(GAA):c.2332-12A>T rs200965268 0.00178
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_138694.4(PKHD1):c.5100C>T (p.Thr1700=) rs143717242 0.00178
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00177
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr) rs116700257 0.00177
NM_052845.4(MMAB):c.185C>T (p.Thr62Met) rs115802744 0.00177
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=) rs182393180 0.00177
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491 0.00176
NM_000383.4(AIRE):c.63C>T (p.Ala21=) rs371796437 0.00176
NM_002691.4(POLD1):c.773C>T (p.Thr258Met) rs76131127 0.00176
NM_017780.4(CHD7):c.8416C>G (p.Leu2806Val) rs45521933 0.00176
NM_001710.6(CFB):c.724A>C (p.Ile242Leu) rs144812066 0.00175
NM_004281.4(BAG3):c.25A>G (p.Met9Val) rs137965903 0.00175
NM_020778.5(ALPK3):c.3965+11G>A rs117116043 0.00175
NM_033118.4(MYLK2):c.508G>A (p.Glu170Lys) rs145656924 0.00175
NM_001105206.3(LAMA4):c.5443G>A (p.Val1815Ile) rs3734292 0.00174
NM_001166114.2(PNPLA6):c.3234C>T (p.Asn1078=) rs148831568 0.00174
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748 0.00174
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met) rs117422805 0.00173
NM_001458.5(FLNC):c.7091G>A (p.Arg2364His) rs201672146 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_001854.4(COL11A1):c.3024+13T>C rs201141572 0.00172
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491 0.00171
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896 0.00170
NM_000302.4(PLOD1):c.1164C>T (p.Thr388=) rs74949176 0.00170
NM_001148.6(ANK2):c.8354C>T (p.Ser2785Leu) rs145895389 0.00170
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser) rs147744729 0.00169
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_005751.5(AKAP9):c.5428A>G (p.Met1810Val) rs115624293 0.00167
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380 0.00167
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493 0.00166
NM_005502.4(ABCA1):c.2328G>C (p.Lys776Asn) rs138880920 0.00166
NM_031885.5(BBS2):c.1081-18G>T rs142558653 0.00166
NM_017636.4(TRPM4):c.2209G>A (p.Gly737Arg) rs145847114 0.00165
NM_000204.5(CFI):c.916A>G (p.Ile306Val) rs113273712 0.00164
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_000532.5(PCCB):c.774C>G (p.His258Gln) rs141615209 0.00163
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala) rs141417436 0.00163
NM_001267550.2(TTN):c.40587A>G (p.Glu13529=) rs370597107 0.00163
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) rs200473652 0.00163
NM_000071.3(CBS):c.1059G>A (p.Thr353=) rs61735859 0.00162
NM_000090.4(COL3A1):c.130G>A (p.Val44Ile) rs79632685 0.00162
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_001378454.1(ALMS1):c.11601C>T (p.Phe3867=) rs80009262 0.00162
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile) rs149871493 0.00162
NM_000498.3(CYP11B2):c.182A>T (p.Tyr61Phe) rs147109119 0.00160
NM_001711.6(BGN):c.310G>A (p.Glu104Lys) rs150272427 0.00160
NM_005502.4(ABCA1):c.1524C>T (p.Asn508=) rs142239617 0.00160
NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser) rs201904226 0.00160
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950 0.00159
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405 0.00159
NM_005751.5(AKAP9):c.11273G>A (p.Arg3758His) rs141856443 0.00158
NM_032578.4(MYPN):c.1790G>A (p.Arg597His) rs150911078 0.00158
NM_144670.6(A2ML1):c.1937T>C (p.Ile646Thr) rs150488553 0.00158
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) rs142679083 0.00157
NM_015202.5(KATNIP):c.4846C>T (p.Arg1616Trp) rs142205612 0.00157
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys) rs149030452 0.00156
NM_000195.5(HPS1):c.680G>T (p.Ser227Ile) rs548033666 0.00155
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg) rs144494437 0.00155
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703 0.00155
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_005685.4(GTF2IRD1):c.2050A>G (p.Ile684Val) rs149209759 0.00154
NM_032588.4(TRIM63):c.375C>T (p.His125=) rs144196126 0.00154
NM_000022.4(ADA):c.402C>T (p.Gly134=) rs146921882 0.00153
NM_000040.3(APOC3):c.55+1G>A rs138326449 0.00153
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_003193.5(TBCE):c.194C>A (p.Thr65Lys) rs144747353 0.00153
NM_022081.6(HPS4):c.1700C>T (p.Ala567Val) rs140234219 0.00153
NM_199242.3(UNC13D):c.227C>T (p.Thr76Met) rs78028658 0.00153
NM_000416.3(IFNGR1):c.1341C>T (p.Thr447=) rs41288979 0.00151
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro) rs72646880 0.00151
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile) rs199805060 0.00151
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp) rs35155575 0.00151
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00150
NM_001643.2(APOA2):c.186-19A>C rs200191201 0.00150
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_004525.3(LRP2):c.9914G>A (p.Arg3305His) rs3213760 0.00150
NM_000536.4(RAG2):c.1504A>G (p.Met502Val) rs145614809 0.00149
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386 0.00149
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro) rs138443479 0.00148
NM_000448.3(RAG1):c.3016A>G (p.Met1006Val) rs139113046 0.00148
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser) rs148072630 0.00148
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser) rs144907522 0.00148
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996 0.00148
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu) rs189438534 0.00147
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His) rs147919567 0.00147
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr) rs72650040 0.00146
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile) rs35967690 0.00146
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587 0.00146
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln) rs147415774 0.00145
NM_000518.5(HBB):c.432C>T (p.His144=) rs36020563 0.00145
NM_001267550.2(TTN):c.10104T>G (p.Val3368=) rs142460433 0.00145
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys) rs72648972 0.00145
NM_002617.4(PEX10):c.495C>T (p.Phe165=) rs150344828 0.00145
NM_004168.4(SDHA):c.136A>G (p.Lys46Glu) rs144599870 0.00145
NM_005502.4(ABCA1):c.2730T>C (p.Asp910=) rs142473861 0.00145
NM_022436.3(ABCG5):c.696C>T (p.Val232=) rs72796720 0.00145
NM_022436.3(ABCG5):c.957C>T (p.Ser319=) rs146131711 0.00145
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met) rs146954342 0.00145
NM_000195.5(HPS1):c.1888G>A (p.Val630Ile) rs139061260 0.00144
NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser) rs199879855 0.00144
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_001378454.1(ALMS1):c.8274A>G (p.Gln2758=) rs181226362 0.00143
NM_004006.3(DMD):c.7472A>G (p.Gln2491Arg) rs147694734 0.00143
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr) rs117502839 0.00143
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766 0.00142
NM_001032283.3(TMPO):c.565+1696C>T rs141443652 0.00142
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys) rs61757671 0.00142
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=) rs6706088 0.00141
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln) rs148849567 0.00141
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906 0.00141
NM_001371986.1(UNC80):c.1818G>A (p.Pro606=) rs61742726 0.00141
NM_015599.3(PGM3):c.1174G>C (p.Glu392Gln) rs149679266 0.00141
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229 0.00140
NM_000237.3(LPL):c.1128C>T (p.Ile376=) rs299 0.00140
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325 0.00140
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly) rs145404396 0.00140
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483 0.00140
NM_080911.3(UNG):c.246G>C (p.Leu82=) rs144083363 0.00140
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) rs143002265 0.00139
NM_001365276.2(TNXB):c.6649C>A (p.Pro2217Thr) rs142409885 0.00139
NM_000492.4(CFTR):c.4243-5C>T rs114402068 0.00138
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln) rs34932223 0.00138
NM_004646.4(NPHS1):c.1638T>G (p.Thr546=) rs115444936 0.00138
NM_020661.4(AICDA):c.299G>C (p.Gly100Ala) rs201210527 0.00138
NM_173076.3(ABCA12):c.2033A>G (p.Asn678Ser) rs147218173 0.00138
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_000071.3(CBS):c.1359-14C>T rs115185587 0.00137
NM_001035.3(RYR2):c.9560A>G (p.Lys3187Arg) rs184218219 0.00137
NM_001384474.1(LOXHD1):c.5767C>G (p.Gln1923Glu) rs377368588 0.00137
NM_001458.5(FLNC):c.2501C>T (p.Thr834Met) rs75133741 0.00136
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945 0.00135
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys) rs138153075 0.00135
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500 0.00135
NM_001377304.1(GFI1B):c.293C>T (p.Ser98Leu) rs143926538 0.00135
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=) rs141574387 0.00135
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr) rs72647885 0.00134
NM_000195.5(HPS1):c.1406A>G (p.Gln469Arg) rs148978269 0.00133
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_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200 0.00133
NM_001388492.1(HTT):c.3244G>C (p.Asp1082His) rs1065746 0.00133
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446 0.00132
NM_000552.5(VWF):c.6099C>T (p.Tyr2033=) rs55784921 0.00132
NM_000552.5(VWF):c.6303C>A (p.Gly2101=) rs115914543 0.00132
NM_001267550.2(TTN):c.36750G>A (p.Pro12250=) rs777458053 0.00132
NM_001267550.2(TTN):c.58869A>G (p.Lys19623=) rs191066933 0.00132
NM_006393.3(NEBL):c.2482A>G (p.Ile828Val) rs143930021 0.00132
NM_000416.3(IFNGR1):c.1101G>A (p.Pro367=) rs149761943 0.00131
NM_001377540.1(SLMAP):c.2272A>T (p.Ser758Cys) rs143689400 0.00131
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe) rs201369510 0.00131
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) rs145975787 0.00130
NM_001267550.2(TTN):c.24195C>T (p.Ser8065=) rs182425565 0.00130
NM_001267550.2(TTN):c.29541C>T (p.Phe9847=) rs56812642 0.00130
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564 0.00130
NM_015141.4(GPD1L):c.659G>A (p.Arg220His) rs72546648 0.00130
NM_024685.4(BBS10):c.1245T>C (p.His415=) rs147241753 0.00130
NM_003322.6(TULP1):c.1376T>C (p.Ile459Thr) rs121909075 0.00129
NM_004525.3(LRP2):c.12287T>C (p.Ile4096Thr) rs137922929 0.00129
NM_001166114.2(PNPLA6):c.1109C>T (p.Pro370Leu) rs200897068 0.00128
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198 0.00128
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro) rs145353986 0.00128
NM_006270.5(RRAS):c.568G>C (p.Val190Leu) rs2230917 0.00128
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497 0.00128
NM_000458.4(HNF1B):c.951C>G (p.Ala317=) rs145750370 0.00127
NM_000532.5(PCCB):c.138G>C (p.Ala46=) rs145075817 0.00126
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_152564.5(VPS13B):c.10824C>T (p.His3608=) rs114818249 0.00126
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114 0.00125
NM_000552.5(VWF):c.546G>A (p.Ser182=) rs143054357 0.00125
NM_001365276.2(TNXB):c.9314G>A (p.Arg3105Gln) rs202113575 0.00125
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp) rs139468527 0.00124
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721 0.00124
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_005373.3(MPL):c.754T>C (p.Tyr252His) rs141311765 0.00124
NM_001267550.2(TTN):c.2764C>T (p.Arg922Cys) rs72647862 0.00123
NM_001388492.1(HTT):c.7332A>T (p.Glu2444Asp) rs201702168 0.00123
NM_004655.4(AXIN2):c.2428G>A (p.Asp810Asn) rs140344858 0.00123
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_181507.2(HPS5):c.2402G>A (p.Ser801Asn) rs145135349 0.00123
NM_001267550.2(TTN):c.105183G>A (p.Ala35061=) rs371075036 0.00122
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592 0.00122
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877 0.00122
NM_005502.4(ABCA1):c.254C>T (p.Pro85Leu) rs145183203 0.00121
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=) rs139726213 0.00120
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616 0.00120
NM_000215.4(JAK3):c.1929G>A (p.Leu643=) rs138645044 0.00119
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=) rs183390773 0.00119
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_004006.3(DMD):c.5620G>A (p.Glu1874Lys) rs142441725 0.00119
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210 0.00118
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743 0.00118
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) rs187925021 0.00118
NM_017636.4(TRPM4):c.988G>A (p.Glu330Lys) rs145771389 0.00118
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) rs200212521 0.00117
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503 0.00117
NM_003184.4(TAF2):c.157A>G (p.Ile53Val) rs112002462 0.00117
NM_018112.3(TMEM38B):c.748C>T (p.Pro250Ser) rs140157299 0.00117
NM_020458.4(TTC7A):c.1129C>G (p.Gln377Glu) rs117304542 0.00117
NM_022114.4(PRDM16):c.2290G>A (p.Val764Met) rs149333409 0.00117
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_000527.5(LDLR):c.858C>T (p.Ser286=) rs140241383 0.00116
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_002471.4(MYH6):c.4906C>T (p.Arg1636Cys) rs149460065 0.00116
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val) rs140317560 0.00116
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) rs193922358 0.00115
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681 0.00115
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_004387.4(NKX2-5):c.237G>C (p.Pro79=) rs72554029 0.00115
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val) rs188270459 0.00115
NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu) rs200187681 0.00115
NM_201596.3(CACNB2):c.1975C>T (p.Arg659Cys) rs77141223 0.00115
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=) rs45445398 0.00114
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828 0.00113
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738 0.00113
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378 0.00113
NM_003673.4(TCAP):c.32C>T (p.Ser11Leu) rs45495192 0.00113
NM_004006.3(DMD):c.1513G>C (p.Val505Leu) rs140340626 0.00113
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835 0.00113
NM_030777.4(SLC2A10):c.630C>T (p.Gly210=) rs142431229 0.00113
NM_144573.4(NEXN):c.1618A>G (p.Met540Val) rs201390657 0.00113
NM_000044.6(AR):c.170T>A (p.Leu57Gln) rs78686797 0.00112
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507 0.00112
NM_022081.6(HPS4):c.557C>T (p.Ser186Leu) rs61729175 0.00112
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu) rs182120395 0.00112
NM_000304.4(PMP22):c.178+7C>A rs147885521 0.00111
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00111
NM_003477.3(PDHX):c.589C>A (p.Leu197Met) rs139052284 0.00111
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys) rs138453255 0.00111
NM_053025.4(MYLK):c.1132C>G (p.Arg378Gly) rs11920433 0.00111
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00110
NM_000170.3(GLDC):c.498T>C (p.Pro166=) rs150193069 0.00110
NM_001041.4(SI):c.5301G>A (p.Thr1767=) rs150131334 0.00110
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050 0.00110
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys) rs146496197 0.00110
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His) rs34193178 0.00110
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083 0.00110
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493 0.00109
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199 0.00109
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930 0.00109
NM_006258.4(PRKG1):c.1525C>T (p.His509Tyr) rs139646798 0.00109
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_000081.4(LYST):c.4548C>T (p.Ser1516=) rs116551057 0.00108
NM_000552.5(VWF):c.7082-13G>C rs71581025 0.00108
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427 0.00108
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr) rs201767727 0.00108
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=) rs371026448 0.00108
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456 0.00108
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894 0.00108
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn) rs200692495 0.00107
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999 0.00107
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_006270.5(RRAS):c.145T>C (p.Phe49Leu) rs151014532 0.00107
NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln) rs79530903 0.00107
NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu) rs146422412 0.00107
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00106
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485 0.00106
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477 0.00106
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln) rs150828989 0.00105
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301 0.00105
NM_001035.3(RYR2):c.1135G>A (p.Val379Met) rs199693714 0.00104
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500 0.00104
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626 0.00104
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00104
NM_001943.5(DSG2):c.221A>G (p.His74Arg) rs201855245 0.00104
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser) rs144320036 0.00104
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_000277.3(PAH):c.*19G>T rs372637021 0.00103
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr) rs142794598 0.00103
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=) rs187182557 0.00103
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00103
NM_001267550.2(TTN):c.94283G>A (p.Arg31428His) rs149375775 0.00103
NM_018112.3(TMEM38B):c.803G>A (p.Gly268Glu) rs148378635 0.00103
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00103
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser) rs878852992 0.00102
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00102
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val) rs55634791 0.00102
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_000163.5(GHR):c.1542T>G (p.Cys514Trp) rs148945224 0.00101
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser) rs201005813 0.00101
NM_005502.4(ABCA1):c.6555T>G (p.Ser2185=) rs146817777 0.00101
NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr) rs80232004 0.00101
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579 0.00101
NM_020975.6(RET):c.1157C>T (p.Ala386Val) rs115272158 0.00101
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362 0.00100
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser) rs150752263 0.00100
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg) rs190369242 0.00100
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610 0.00100
NM_000518.5(HBB):c.316-70C>G rs193922560 0.00099
NM_001267550.2(TTN):c.96998G>A (p.Arg32333His) rs138846756 0.00099
NM_001363711.2(DUOX2):c.567C>T (p.His189=) rs2467829 0.00099
NM_000040.3(APOC3):c.127G>A (p.Ala43Thr) rs147210663 0.00098
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser) rs149258400 0.00098
NM_000352.6(ABCC8):c.1630+10C>T rs188075767 0.00098
NM_000552.5(VWF):c.5312-19A>C rs200237834 0.00098
NM_001032283.3(TMPO):c.565+2224A>G rs34983516 0.00098
NM_001256007.3(PNPLA8):c.830A>T (p.Asp277Val) rs147828742 0.00098
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842 0.00098
NM_004006.3(DMD):c.2261G>T (p.Gly754Val) rs151242451 0.00098
NM_000209.4(PDX1):c.543C>T (p.Val181=) rs75498935 0.00097
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633 0.00097
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser) rs189032342 0.00097
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523 0.00097
NM_004004.6(GJB2):c.-174C>G rs541058463 0.00097
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val) rs34656239 0.00097
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp) rs193922382 0.00096
NM_000527.5(LDLR):c.828C>T (p.Cys276=) rs146651743 0.00096
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001063.4(TF):c.1027C>T (p.Arg343Trp) rs150854910 0.00096
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139 0.00096
NM_031448.6(C19orf12):c.313G>A (p.Val105Met) rs146492790 0.00096
NM_000142.5(FGFR3):c.2149G>A (p.Ala717Thr) rs17882190 0.00095
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_002435.3(MPI):c.1049C>T (p.Thr350Met) rs116933453 0.00095
NM_005502.4(ABCA1):c.1977C>T (p.Ile659=) rs34083760 0.00095
NM_182961.4(SYNE1):c.581+18G>A rs111309750 0.00095
NM_001103.4(ACTN2):c.1864G>A (p.Asp622Asn) rs138452803 0.00094
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_022437.3(ABCG8):c.1941C>G (p.Val647=) rs147991100 0.00094
NM_000071.3(CBS):c.1223+12C>T rs116578198 0.00093
NM_001267550.2(TTN):c.80661C>T (p.Asn26887=) rs201069672 0.00093
NM_002474.3(MYH11):c.3604G>A (p.Ala1202Thr) rs112657320 0.00093
NM_003664.5(AP3B1):c.942G>A (p.Ala314=) rs146871001 0.00093
NM_017617.5(NOTCH1):c.5506G>A (p.Asp1836Asn) rs200100726 0.00093
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939 0.00092
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) rs142047577 0.00092
NM_003242.6(TGFBR2):c.106A>G (p.Met36Val) rs17025864 0.00092
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_016938.5(EFEMP2):c.738G>A (p.Glu246=) rs144780990 0.00092
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg) rs148134252 0.00092
NM_053025.4(MYLK):c.3706A>G (p.Met1236Val) rs113124819 0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_001267550.2(TTN):c.107766T>C (p.Gly35922=) rs147293964 0.00091
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) rs72646845 0.00091
NM_001384474.1(LOXHD1):c.5546A>C (p.Asp1849Ala) rs376636291 0.00091
NM_020631.6(PLEKHG5):c.918C>T (p.Asp306=) rs111624565 0.00091
NM_182914.3(SYNE2):c.16718G>A (p.Arg5573Gln) rs149227847 0.00091
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_000500.9(CYP21A2):c.803C>T (p.Pro268Leu) rs61732108 0.00090
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His) rs200648462 0.00090
NM_001377.3(DYNC2H1):c.9505A>G (p.Ile3169Val) rs200170585 0.00090
NM_000064.4(C3):c.4369G>C (p.Asp1457His) rs113742728 0.00089
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser) rs61746118 0.00089
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys) rs3087425 0.00089
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val) rs139046510 0.00089
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005 0.00088
NM_000237.3(LPL):c.345A>C (p.Ser115=) rs147309575 0.00088
NM_000433.4(NCF2):c.836C>T (p.Thr279Met) rs13306581 0.00088
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687 0.00088
NM_001267550.2(TTN):c.32462C>T (p.Pro10821Leu) rs146400809 0.00088
NM_001365276.2(TNXB):c.7486G>A (p.Val2496Met) rs182362312 0.00088
NM_001365999.1(SZT2):c.8427G>A (p.Glu2809=) rs140309222 0.00088
NM_001369268.1(ACAN):c.7189G>A (p.Val2397Ile) rs150555123 0.00088
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) rs183130583 0.00088
NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln) rs202065858 0.00088
NM_000093.5(COL5A1):c.2588A>T (p.Glu863Val) rs139788610 0.00087
NM_000093.5(COL5A1):c.3418G>A (p.Val1140Met) rs149616140 0.00087
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_000064.4(C3):c.4172+19G>A rs181489450 0.00086
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_000302.4(PLOD1):c.843+17G>C rs201244598 0.00086
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_000492.4(CFTR):c.4243-20A>G rs138025486 0.00086
NM_000535.7(PMS2):c.251-20T>G rs149343081 0.00086
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=) rs186105748 0.00086
NM_001267550.2(TTN):c.95244C>T (p.Arg31748=) rs368243641 0.00086
NM_001378778.1(MPDZ):c.4421A>T (p.Asp1474Val) rs201277979 0.00086
NM_000098.3(CPT2):c.353A>G (p.Asp118Gly) rs148035648 0.00085
NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys) rs368772806 0.00085
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys) rs142244640 0.00084
NM_001079802.2(FKTN):c.681G>A (p.Leu227=) rs142604625 0.00084
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891 0.00084
NM_175914.5(HNF4A):c.84G>A (p.Ala28=) rs41282026 0.00084
NM_000064.4(C3):c.4767G>A (p.Lys1589=) rs144589541 0.00083
NM_000071.3(CBS):c.1257G>A (p.Leu419=) rs138432416 0.00083
NM_000081.4(LYST):c.3507C>T (p.Leu1169=) rs74861744 0.00083
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989 0.00083
NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys) rs200445568 0.00083
NM_012452.3(TNFRSF13B):c.568G>C (p.Gly190Arg) rs150101848 0.00083
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638 0.00083
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280 0.00083
NM_173477.5(USH1G):c.983G>T (p.Gly328Val) rs137871047 0.00083
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) rs148354076 0.00082
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973 0.00082
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002 0.00082
NM_001365276.2(TNXB):c.11227G>A (p.Asp3743Asn) rs1254121532 0.00082
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys) rs192857413 0.00082
NM_000545.8(HNF1A):c.1107+9C>G rs17847497 0.00081
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=) rs138996307 0.00081
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497 0.00081
NM_005751.5(AKAP9):c.1651A>G (p.Ile551Val) rs140664656 0.00081
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys) rs140613217 0.00081
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=) rs193922096 0.00080
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247 0.00080
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His) rs200509072 0.00080
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126 0.00080
NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys) rs551591362 0.00080
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=) rs200459890 0.00080
NM_005751.5(AKAP9):c.9127G>A (p.Ala3043Thr) rs138390702 0.00080
NM_000016.6(ACADM):c.645T>A (p.Ala215=) rs147395095 0.00079
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=) rs372609980 0.00079
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023 0.00079
NM_001267550.2(TTN):c.85248A>T (p.Thr28416=) rs187180708 0.00079
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=) rs190406444 0.00079
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys) rs111404182 0.00079
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706 0.00079
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048 0.00079
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328 0.00078
NM_000117.3(EMD):c.466G>A (p.Gly156Ser) rs144594695 0.00078
NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617 0.00078
NM_000257.4(MYH7):c.261C>T (p.Ile87=) rs148560996 0.00078
NM_005732.4(RAD50):c.3036+5G>A rs181016343 0.00078
NM_014875.3(KIF14):c.1753T>C (p.Phe585Leu) rs201600249 0.00078
NM_017636.4(TRPM4):c.2561A>G (p.Gln854Arg) rs172155862 0.00078
NM_153766.3(KCNJ1):c.505C>T (p.Arg169Cys) rs138120505 0.00078
NM_174936.4(PCSK9):c.1251C>A (p.His417Gln) rs143275858 0.00078
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) rs149253719 0.00078
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) rs147934285 0.00077
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705 0.00077
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His) rs148169214 0.00077
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly) rs17848880 0.00077
NM_001927.4(DES):c.170C>T (p.Ser57Leu) rs372825868 0.00077
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu) rs148677674 0.00077
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_032122.5(DTNBP1):c.162G>A (p.Arg54=) rs77460377 0.00077
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=) rs184883937 0.00077
NM_000091.5(COL4A3):c.3627G>A (p.Met1209Ile) rs200562865 0.00076
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973 0.00076
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756 0.00076
NM_001365536.1(SCN9A):c.688+9T>C rs188814235 0.00076
NM_001378454.1(ALMS1):c.8919G>A (p.Ala2973=) rs116854981 0.00076
NM_002180.3(IGHMBP2):c.1060+8G>T rs201147313 0.00076
NM_005477.3(HCN4):c.1703G>C (p.Ser568Thr) rs138714806 0.00076
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His) rs104894649 0.00076
NM_000117.3(EMD):c.495G>A (p.Thr165=) rs151074632 0.00075
NM_000387.6(SLC25A20):c.535+18C>T rs182781221 0.00075
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954 0.00075
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys) rs142525903 0.00075
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly) rs139871607 0.00075
NM_014363.6(SACS):c.2146C>T (p.His716Tyr) rs146852400 0.00075
NM_001017995.3(SH3PXD2B):c.2227G>A (p.Val743Met) rs141103005 0.00074
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile) rs200387466 0.00074
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=) rs151335428 0.00074
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln) rs148468627 0.00074
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00074
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846 0.00074
NM_024312.5(GNPTAB):c.1986G>A (p.Ala662=) rs112000802 0.00074
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met) rs138553244 0.00074
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=) rs117672175 0.00073
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_001003841.3(SLC6A19):c.1044C>T (p.Phe348=) rs139103369 0.00073
NM_001005242.3(PKP2):c.1171-10T>C rs200122872 0.00073
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) rs141274774 0.00073
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798 0.00073
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_001365276.2(TNXB):c.7856C>T (p.Pro2619Leu) rs183760368 0.00073
NM_001384140.1(PCDH15):c.243G>A (p.Val81=) rs151119732 0.00073
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln) rs104893904 0.00073
NM_014908.4(DOLK):c.873C>T (p.Leu291=) rs148646968 0.00073
NM_017849.4(TMEM127):c.208G>A (p.Asp70Asn) rs121908819 0.00073
NM_020975.6(RET):c.1124T>A (p.Leu375Gln) rs142338976 0.00073
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_001267550.2(TTN):c.82081C>G (p.Pro27361Ala) rs56137800 0.00072
NM_003238.6(TGFB2):c.303G>A (p.Lys101=) rs147052890 0.00072
NM_006767.4(LZTR1):c.1990G>A (p.Ala664Thr) rs140874089 0.00072
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842 0.00071
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000256.3(MYBPC3):c.2997C>T (p.Gly999=) rs377283955 0.00071
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr) rs142906652 0.00071
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279 0.00071
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr) rs188878341 0.00071
NM_001267550.2(TTN):c.40786+15C>A rs187582271 0.00071
NM_001267550.2(TTN):c.52406-16G>A rs372221219 0.00071
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205 0.00071
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263 0.00071
NM_004006.3(DMD):c.4093C>T (p.Leu1365Phe) rs148781346 0.00071
NM_014908.4(DOLK):c.1314C>T (p.Leu438=) rs148118523 0.00071
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_000397.4(CYBB):c.46-7T>C rs182039020 0.00070
NM_000451.4(SHOX):c.634-14G>T rs759067813 0.00070
NM_001005242.3(PKP2):c.1379-2067G>A rs138538072 0.00070
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg) rs121434525 0.00070
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871 0.00070
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263 0.00070
NM_015627.3(LDLRAP1):c.711G>A (p.Pro237=) rs112914959 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_144670.6(A2ML1):c.2027G>A (p.Arg676Gln) rs138301233 0.00070
NM_206933.4(USH2A):c.5409C>G (p.Val1803=) rs140326085 0.00070
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764 0.00069
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp) rs200287703 0.00069
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206 0.00069
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys) rs145619906 0.00069
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037 0.00068
NM_001032283.3(TMPO):c.350A>G (p.Asn117Ser) rs141387097 0.00068
NM_001365276.2(TNXB):c.11581G>A (p.Ala3861Thr) rs201121030 0.00068
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln) rs149641783 0.00068
NM_001458.5(FLNC):c.6808G>A (p.Glu2270Lys) rs202223616 0.00068
NM_004937.3(CTNS):c.516C>T (p.Ala172=) rs143405190 0.00068
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407 0.00068
NM_022356.4(P3H1):c.2147G>C (p.Gly716Ala) rs573577299 0.00068
NM_000071.3(CBS):c.829-13G>A rs201106576 0.00067
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_001148.6(ANK2):c.11459G>A (p.Arg3820Gln) rs138085317 0.00067
NM_001288705.3(CSF1R):c.881G>A (p.Arg294Gln) rs149168939 0.00067
NM_000237.3(LPL):c.786G>A (p.Gln262=) rs140986245 0.00066
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942 0.00066
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421 0.00066
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202 0.00066
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu) rs201340369 0.00066
NM_002615.7(SERPINF1):c.601G>A (p.Asp201Asn) rs137997656 0.00066
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362 0.00066
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832 0.00066
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562 0.00066
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874 0.00066
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp) rs148195424 0.00066
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg) rs200550947 0.00065
NM_001378454.1(ALMS1):c.3942A>C (p.Ser1314=) rs186449817 0.00065
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158 0.00065
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) rs142106322 0.00065
NM_000257.4(MYH7):c.4005G>A (p.Ser1335=) rs144465613 0.00064
NM_000631.5(NCF4):c.647C>T (p.Thr216Met) rs146911421 0.00064
NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln) rs200963111 0.00064
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala) rs377289817 0.00064
NM_001267550.2(TTN):c.74596A>G (p.Thr24866Ala) rs199784966 0.00064
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp) rs73036377 0.00064
NM_004655.4(AXIN2):c.1250C>T (p.Ala417Val) rs201460658 0.00064
NM_004655.4(AXIN2):c.2285G>A (p.Ser762Asn) rs117688560 0.00064
NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp) rs571095192 0.00064
NM_015627.3(LDLRAP1):c.432C>T (p.His144=) rs200840583 0.00064
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln) rs370569372 0.00064
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe) rs150528041 0.00064
NM_203447.4(DOCK8):c.3023G>A (p.Arg1008Gln) rs145844320 0.00064
NM_000243.3(MEFV):c.932C>T (p.Ala311Val) rs74346519 0.00063
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342 0.00063
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316 0.00063
NM_000377.3(WAS):c.538C>A (p.His180Asn) rs145040665 0.00063
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys) rs149243307 0.00063
NM_001134363.3(RBM20):c.1451C>T (p.Thr484Ile) rs116442272 0.00063
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693 0.00063
NM_001267550.2(TTN):c.55659G>A (p.Val18553=) rs368450420 0.00063
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His) rs200317412 0.00063
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys) rs56341835 0.00063
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val) rs182549226 0.00063
NM_003995.4(NPR2):c.1351+10T>C rs199798952 0.00063
NM_004304.5(ALK):c.932G>A (p.Arg311His) rs150966028 0.00063
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly) rs141619382 0.00063
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg) rs144851946 0.00063
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
NM_003238.6(TGFB2):c.823A>G (p.Ser275Gly) rs139825195 0.00062
NM_013975.4(LIG3):c.670C>T (p.Arg224Trp) rs3744356 0.00062
NM_020778.5(ALPK3):c.135C>T (p.Pro45=) rs369591811 0.00062
NM_024301.5(FKRP):c.969C>T (p.Arg323=) rs532054402 0.00062
NM_000090.4(COL3A1):c.505C>T (p.Leu169Phe) rs111391222 0.00061
NM_000170.3(GLDC):c.2730G>A (p.Ser910=) rs144937031 0.00061
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083 0.00061
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser) rs202015519 0.00061
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684 0.00061
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg) rs190636272 0.00061
NM_001267550.2(TTN):c.17115C>T (p.Gly5705=) rs370036981 0.00061
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241 0.00061
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) rs200771189 0.00061
NM_001378454.1(ALMS1):c.11223G>A (p.Glu3741=) rs28730859 0.00061
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys) rs140512665 0.00061
NM_003119.4(SPG7):c.1936+13G>A rs147242721 0.00061
NM_005502.4(ABCA1):c.3544G>A (p.Ala1182Thr) rs143180998 0.00061
NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr) rs140470576 0.00061
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr) rs150016098 0.00061
NM_013254.4(TBK1):c.1189+10G>A rs185457813 0.00061
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00060
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) rs140852019 0.00060
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019 0.00060
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646 0.00060
NM_006172.4(NPPA):c.352C>A (p.Leu118Met) rs147081122 0.00060
NM_016938.5(EFEMP2):c.714C>T (p.Gly238=) rs2234467 0.00060
NM_024301.5(FKRP):c.636G>A (p.Ala212=) rs370099812 0.00060
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr) rs183880522 0.00060
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp) rs142509759 0.00059
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676 0.00059
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=) rs149127072 0.00059
NM_001267550.2(TTN):c.82797C>T (p.Gly27599=) rs72648216 0.00059
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala) rs146989944 0.00059
NM_002485.5(NBN):c.788T>C (p.Phe263Ser) rs147626427 0.00059
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_000039.3(APOA1):c.562G>T (p.Ala188Ser) rs140770089 0.00058
NM_000081.4(LYST):c.2363+10dup rs760632806 0.00058
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp) rs147589613 0.00058
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_001079.4(ZAP70):c.1025T>C (p.Ile342Thr) rs142702703 0.00058
NM_001148.6(ANK2):c.6176C>T (p.Thr2059Met) rs200765866 0.00058
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile) rs200103997 0.00058
NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln) rs201418615 0.00058
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser) rs183844833 0.00058
NM_005141.5(FGB):c.115-12C>T rs187641148 0.00058
NM_005751.5(AKAP9):c.4127G>C (p.Ser1376Thr) rs144372406 0.00058
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00058
NM_025074.7(FRAS1):c.1982C>T (p.Ala661Val) rs115496853 0.00058
NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met) rs142313124 0.00057
NM_000155.4(GALT):c.687+9G>C rs117998880 0.00057
NM_000157.4(GBA1):c.474C>T (p.Ile158=) rs147411159 0.00057
NM_000158.4(GBE1):c.1237-18C>T rs368966861 0.00057
NM_000466.3(PEX1):c.1085C>T (p.Ser362Leu) rs138758170 0.00057
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser) rs202085145 0.00057
NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala) rs202176504 0.00057
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910 0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653 0.00057
NM_006904.7(PRKDC):c.11698C>G (p.Leu3900Val) rs201214138 0.00057
NM_016938.5(EFEMP2):c.27C>G (p.Pro9=) rs144817331 0.00057
NM_024301.5(FKRP):c.531G>A (p.Glu177=) rs768007208 0.00057
NM_201596.3(CACNB2):c.1592G>A (p.Arg531His) rs184280124 0.00057
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227 0.00056
NM_000071.3(CBS):c.215A>T (p.Lys72Ile) rs192232907 0.00056
NM_000492.4(CFTR):c.*2G>A rs150914702 0.00056
NM_000492.4(CFTR):c.2245C>T (p.Leu749=) rs151235408 0.00056
NM_001291303.3(FAT4):c.12769G>A (p.Glu4257Lys) rs143513466 0.00056
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211 0.00056
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275 0.00056
NM_000257.4(MYH7):c.2163-16A>T rs199538267 0.00055
NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly) rs72646849 0.00055
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859 0.00055
NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys) rs61757664 0.00055
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met) rs72646510 0.00055
NM_000038.6(APC):c.2476T>G (p.Leu826Val) rs145245264 0.00054
NM_000257.4(MYH7):c.3777C>T (p.His1259=) rs149103761 0.00054
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met) rs139779505 0.00054
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=) rs144562471 0.00054
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546 0.00054
NM_003238.6(TGFB2):c.357G>A (p.Pro119=) rs138514914 0.00054
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser) rs11568367 0.00054
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271 0.00054
NM_007078.3(LDB3):c.1111G>A (p.Ala371Thr) rs45539535 0.00054
NM_007294.4(BRCA1):c.301+8T>C rs80358101 0.00054
NM_015627.3(LDLRAP1):c.396C>T (p.Ile132=) rs369497122 0.00054
NM_016203.4(PRKAG2):c.472G>A (p.Gly158Ser) rs727504512 0.00054
NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp) rs138810908 0.00054
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000064.4(C3):c.3490-10T>G rs372843505 0.00053
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000455.5(STK11):c.426C>T (p.Ser142=) rs758448869 0.00053
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg) rs370077023 0.00053
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014 0.00053
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr) rs78814506 0.00053
NM_024306.5(FA2H):c.337C>T (p.Arg113Trp) rs141276237 0.00053
NM_000081.4(LYST):c.11086G>A (p.Val3696Ile) rs147221131 0.00052
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn) rs201177696 0.00052
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys) rs149963885 0.00052
NM_001164508.2(NEB):c.984C>T (p.Thr328=) rs199969138 0.00052
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu) rs201035511 0.00052
NM_015046.7(SETX):c.4197A>G (p.Thr1399=) rs148078248 0.00052
NM_024422.6(DSC2):c.1901G>A (p.Arg634His) rs200475862 0.00052
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys) rs147067171 0.00051
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser) rs141644853 0.00051
NM_001009944.3(PKD1):c.9506G>A (p.Arg3169Gln) rs375378535 0.00051
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750 0.00051
NM_001148.6(ANK2):c.9923C>G (p.Thr3308Ser) rs145145511 0.00051
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00051
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His) rs201388509 0.00051
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly) rs56391938 0.00051
NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg) rs72648228 0.00051
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00051
NM_002150.3(HPD):c.1005C>G (p.Ile335Met) rs137852868 0.00051
NM_002161.6(IARS1):c.2175G>A (p.Lys725=) rs145346984 0.00051
NM_002691.4(POLD1):c.1061C>T (p.Ala354Val) rs140990974 0.00051
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267 0.00051
NM_006904.7(PRKDC):c.7204C>T (p.Leu2402Phe) rs374403400 0.00051
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr) rs201878539 0.00051
NM_016373.4(WWOX):c.60G>C (p.Pro20=) rs376165565 0.00051
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu) rs150390726 0.00051
NM_033118.4(MYLK2):c.1253C>T (p.Thr418Ile) rs144129296 0.00051
NM_144639.3(UROC1):c.1209C>T (p.Tyr403=) rs147353570 0.00051
NM_144670.6(A2ML1):c.2197T>C (p.Phe733Leu) rs117213221 0.00051
NM_000040.3(APOC3):c.55C>T (p.Arg19Ter) rs76353203 0.00050
NM_000207.3(INS):c.227G>A (p.Ser76Asn) rs139264769 0.00050
NM_000465.4(BARD1):c.144G>A (p.Leu48=) rs151168457 0.00050
NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn) rs144848998 0.00050
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala) rs144814689 0.00050
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325 0.00050
NM_015311.3(OBSL1):c.4060G>A (p.Val1354Met) rs144083909 0.00050
NM_000110.4(DPYD):c.451A>G (p.Asn151Asp) rs200562975 0.00049
NM_000257.4(MYH7):c.2907C>T (p.His969=) rs142573531 0.00049
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872 0.00049
NM_001999.4(FBN2):c.8537G>A (p.Arg2846His) rs200345491 0.00049
NM_002317.7(LOX):c.388T>C (p.Ser130Pro) rs139035462 0.00049
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 0.00048
NM_000179.3(MSH6):c.2667G>T (p.Gln889His) rs149945495 0.00048
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp) rs115670442 0.00048
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706 0.00048
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr) rs72648259 0.00048
NM_001379610.1(SPINK1):c.33C>T (p.Ala11=) rs147454311 0.00048
NM_003480.4(MFAP5):c.236A>T (p.Asn79Ile) rs139330366 0.00048
NM_006502.3(POLH):c.1433C>T (p.Thr478Met) rs9296419 0.00048
NM_053025.4(MYLK):c.1474G>A (p.Ala492Thr) rs143010767 0.00048
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956 0.00048
NM_000478.6(ALPL):c.744C>T (p.Asp248=) rs188689330 0.00047
NM_001386795.1(DTNA):c.955A>G (p.Met319Val) rs141981161 0.00047
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340 0.00047
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_006231.4(POLE):c.5659G>A (p.Val1887Met) rs114119067 0.00047
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_144670.6(A2ML1):c.1237G>A (p.Val413Ile) rs185181365 0.00047
NM_000136.3(FANCC):c.1533+50G>A rs4647544 0.00046
NM_000136.3(FANCC):c.672C>T (p.Asn224=) rs150647141 0.00046
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876 0.00046
NM_000335.5(SCN5A):c.3663+10T>C rs200656652 0.00046
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249 0.00046
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_001105206.3(LAMA4):c.5344C>T (p.Arg1782Cys) rs145897390 0.00046
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr) rs72648947 0.00046
NM_001267550.2(TTN):c.33G>A (p.Pro11=) rs138331646 0.00046
NM_001267550.2(TTN):c.47955A>G (p.Pro15985=) rs192953152 0.00046
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=) rs139789997 0.00046
NM_003742.4(ABCB11):c.3524A>C (p.Lys1175Thr) rs200709879 0.00046
NM_006767.4(LZTR1):c.1531G>A (p.Val511Met) rs200062851 0.00046
NM_022436.3(ABCG5):c.99G>A (p.Pro33=) rs149907931 0.00046
NM_133259.4(LRPPRC):c.2211-14G>A rs375399789 0.00046
NM_000179.3(MSH6):c.491A>C (p.His164Pro) rs146469162 0.00045
NM_000518.5(HBB):c.316-125A>G rs63751175 0.00045
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro) rs148069478 0.00045
NM_001048174.2(MUTYH):c.914-9C>T rs3219488 0.00045
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=) rs144094650 0.00045
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile) rs149059189 0.00045
NM_001267550.2(TTN):c.71369G>A (p.Arg23790His) rs55677134 0.00045
NM_001267550.2(TTN):c.80722A>C (p.Arg26908=) rs573877174 0.00045
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser) rs140170914 0.00045
NM_006506.5(RASA2):c.378A>C (p.Glu126Asp) rs144759014 0.00045
NM_006904.7(PRKDC):c.399+15A>G rs370171329 0.00045
NM_006939.4(SOS2):c.3250A>G (p.Thr1084Ala) rs150752193 0.00045
NM_016938.5(EFEMP2):c.99C>T (p.Pro33=) rs140946753 0.00045
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu) rs144182966 0.00045
NM_000039.3(APOA1):c.284T>A (p.Phe95Tyr) rs138407155 0.00044
NM_000051.4(ATM):c.3342G>A (p.Lys1114=) rs138393322 0.00044
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=) rs147797612 0.00044
NM_000338.3(SLC12A1):c.1089A>G (p.Ala363=) rs142646329 0.00044
NM_000552.5(VWF):c.4146G>T (p.Leu1382=) rs140464171 0.00044
NM_001105206.3(LAMA4):c.641G>A (p.Arg214His) rs139146419 0.00044
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His) rs201692151 0.00044
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro) rs200901330 0.00044
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00044
NM_005751.5(AKAP9):c.4985C>T (p.Ala1662Val) rs149244653 0.00044
NM_005751.5(AKAP9):c.883A>G (p.Thr295Ala) rs149825027 0.00044
NM_014908.4(DOLK):c.1450A>G (p.Ile484Val) rs147630977 0.00044
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met) rs377535397 0.00044
NM_030777.4(SLC2A10):c.1548-19C>T rs144623242 0.00044
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys) rs41293104 0.00044
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067 0.00043
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg) rs192833530 0.00043
NM_000302.4(PLOD1):c.579+17G>A rs181015965 0.00043
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=) rs138870926 0.00043
NM_001037.5(SCN1B):c.448+314C>A rs373295182 0.00043
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644 0.00043
NM_004415.4(DSP):c.2683T>C (p.Tyr895His) rs375891215 0.00043
NM_006506.5(RASA2):c.37T>G (p.Ser13Ala) rs747843653 0.00043
NM_033337.3(CAV3):c.417C>T (p.Val139=) rs147250678 0.00043
NM_139076.3(ABRAXAS1):c.680A>C (p.Lys227Thr) rs149091407 0.00043
NM_000133.4(F9):c.8G>A (p.Arg3His) rs148060786 0.00042
NM_000157.4(GBA1):c.546G>A (p.Gln182=) rs545391048 0.00042
NM_000179.3(MSH6):c.3960A>G (p.Ala1320=) rs373425206 0.00042
NM_000218.3(KCNQ1):c.105C>A (p.Pro35=) rs968695655 0.00042
NM_000256.3(MYBPC3):c.926+8C>T rs377595584 0.00042
NM_000552.5(VWF):c.1107C>G (p.Thr369=) rs149640698 0.00042
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys) rs202094100 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) rs376820301 0.00042
NM_001378454.1(ALMS1):c.4222G>A (p.Val1408Ile) rs200529564 0.00042
NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys) rs146781484 0.00042
NM_005732.4(RAD50):c.260G>A (p.Arg87His) rs374561375 0.00042
NM_144670.6(A2ML1):c.911T>C (p.Ile304Thr) rs184575465 0.00042
NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys) rs201692618 0.00042
NR_003051.4(RMRP):n.141A>G rs578091934 0.00042
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465 0.00041
NM_000249.4(MLH1):c.702G>A (p.Glu234=) rs35908749 0.00041
NM_000271.5(NPC1):c.1553+18A>G rs373017634 0.00041
NM_000383.4(AIRE):c.1437G>A (p.Val479=) rs181029582 0.00041
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365 0.00041
NM_000492.4(CFTR):c.3469-17T>C rs199630678 0.00041
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813 0.00041
NM_000545.8(HNF1A):c.965A>G (p.Tyr322Cys) rs140491072 0.00041
NM_001267550.2(TTN):c.47379C>T (p.Tyr15793=) rs374281025 0.00041
NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln) rs370390570 0.00041
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278 0.00041
NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=) rs35902379 0.00041
NM_002691.4(POLD1):c.1932C>G (p.Asp644Glu) rs80214209 0.00041
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn) rs149029910 0.00041
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076 0.00041
NM_014704.4(CEP104):c.2621G>A (p.Arg874His) rs139076247 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg) rs200273207 0.00041
NM_000238.4(KCNH2):c.2965+14C>T rs201706355 0.00040
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233 0.00040
NM_000527.5(LDLR):c.2055G>A (p.Pro685=) rs149126953 0.00040
NM_000026.4(ADSL):c.270T>C (p.Ala90=) rs143275316 0.00039
NM_000091.5(COL4A3):c.-10C>T rs781380101 0.00039
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806 0.00039
NM_000465.4(BARD1):c.348T>C (p.His116=) rs139934362 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_001102469.2(LIPN):c.599G>A (p.Gly200Asp) rs201108850 0.00039
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly) rs150084275 0.00039
NM_001232.4(CASQ2):c.928G>A (p.Asp310Asn) rs141314684 0.00039
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe) rs72648943 0.00039
NM_001297.5(CNGB1):c.2153G>C (p.Gly718Ala) rs201909863 0.00039
NM_013975.4(LIG3):c.2701G>A (p.Ala901Thr) rs139474938 0.00039
NM_014908.4(DOLK):c.1481A>G (p.Asp494Gly) rs145292760 0.00039
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226 0.00039
NM_020778.5(ALPK3):c.3966-14T>C rs145646854 0.00039
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr) rs138933660 0.00038
NM_000038.6(APC):c.5690A>C (p.His1897Pro) rs112610898 0.00038
NM_000051.4(ATM):c.6795C>T (p.Phe2265=) rs3218699 0.00038
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222 0.00038
NM_000391.4(TPP1):c.688-18C>T rs376868997 0.00038
NM_000492.4(CFTR):c.2620-6T>C rs371315682 0.00038
NM_000512.5(GALNS):c.252G>A (p.Ala84=) rs377250967 0.00038
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869 0.00038
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638 0.00038
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) rs199681901 0.00038
NM_001943.5(DSG2):c.3266G>A (p.Gly1089Asp) rs200264407 0.00038
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324 0.00038
NM_003235.5(TG):c.8026C>T (p.Arg2676Trp) rs114613744 0.00038
NM_004132.5(HABP2):c.207C>T (p.Tyr69=) rs139478887 0.00038
NM_004281.4(BAG3):c.821C>T (p.Ser274Leu) rs143919208 0.00038
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala) rs587776399 0.00038
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) rs147407445 0.00038
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660 0.00038
NM_144670.6(A2ML1):c.1780G>A (p.Val594Met) rs201527641 0.00038
NM_000075.4(CDK4):c.764G>A (p.Arg255His) rs144657355 0.00037
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser) rs34938432 0.00037
NM_000536.4(RAG2):c.477C>T (p.Arg159=) rs141659100 0.00037
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00037
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser) rs540805431 0.00037
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940 0.00037
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn) rs143186270 0.00037
NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=) rs189914793 0.00037
NM_001943.5(DSG2):c.716T>C (p.Val239Ala) rs200997703 0.00037
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_000038.6(APC):c.6857C>T (p.Ala2286Val) rs200587641 0.00036
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val) rs370412052 0.00036
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_000256.3(MYBPC3):c.906-7G>T rs397516079 0.00036
NM_000257.4(MYH7):c.2349C>T (p.Arg783=) rs139882431 0.00036
NM_000277.3(PAH):c.609C>T (p.Cys203=) rs1801147 0.00036
NM_000301.5(PLG):c.1858G>A (p.Ala620Thr) rs121918027 0.00036
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_001126049.2(KLLN):c.-840G>A rs563841270 0.00036
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val) rs199508062 0.00036
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=) rs140942979 0.00036
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe) rs192499639 0.00036
NM_002230.4(JUP):c.1366G>A (p.Val456Ile) rs78437817 0.00036
NM_002474.3(MYH11):c.5470G>A (p.Ala1824Thr) rs147710374 0.00036
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402 0.00036
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His) rs200069356 0.00036
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly) rs147822019 0.00036
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln) rs142807436 0.00036
NM_005188.4(CBL):c.2363G>A (p.Arg788Gln) rs150811339 0.00036
NM_005732.4(RAD50):c.2397G>C (p.Gln799His) rs61749630 0.00036
NM_005751.5(AKAP9):c.456C>A (p.Asp152Glu) rs138567837 0.00036
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr) rs139922045 0.00036
NM_017849.4(TMEM127):c.53C>T (p.Pro18Leu) rs377740271 0.00036
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011 0.00036
NM_022437.3(ABCG8):c.1473A>G (p.Pro491=) rs146046068 0.00036
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049 0.00035
NM_000243.3(MEFV):c.372C>T (p.Pro124=) rs104895078 0.00035
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_000383.4(AIRE):c.521G>A (p.Arg174His) rs145732243 0.00035
NM_000548.5(TSC2):c.1512C>G (p.Val504=) rs146359990 0.00035
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233 0.00035
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser) rs183013408 0.00035
NM_001365276.2(TNXB):c.619G>A (p.Gly207Ser) rs139154852 0.00035
NM_003664.5(AP3B1):c.279+16A>G rs199804239 0.00035
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg) rs143264567 0.00035
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr) rs139965373 0.00035
NM_022437.3(ABCG8):c.729C>T (p.Leu243=) rs145482605 0.00035
NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn) rs150425166 0.00035
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val) rs140232809 0.00035
NM_053025.4(MYLK):c.4348C>T (p.Arg1450Trp) rs143258617 0.00035
NM_000057.4(BLM):c.780T>C (p.Thr260=) rs55763079 0.00034
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817 0.00034
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn) rs142890619 0.00034
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000302.4(PLOD1):c.1707G>A (p.Leu569=) rs139468110 0.00034
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_001035.3(RYR2):c.7925G>A (p.Arg2642Lys) rs377473366 0.00034
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557 0.00034
NM_001378454.1(ALMS1):c.9861A>G (p.Pro3287=) rs114687298 0.00034
NM_001378789.1(CERS3):c.1102G>A (p.Gly368Ser) rs137899535 0.00034
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln) rs138143719 0.00034
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr) rs375998236 0.00034
NM_004092.4(ECHS1):c.519G>A (p.Ala173=) rs140262395 0.00034
NM_004100.5(EYA4):c.749C>A (p.Thr250Asn) rs143757415 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_013266.4(CTNNA3):c.2524C>T (p.Arg842Trp) rs199852825 0.00034
NM_015141.4(GPD1L):c.520G>A (p.Glu174Lys) rs112122950 0.00034
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) rs559917218 0.00034
NM_022114.4(PRDM16):c.1566G>T (p.Leu522Phe) rs554705536 0.00034
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571 0.00034
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801 0.00034
NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala) rs3136334 0.00033
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp) rs202234492 0.00033
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala) rs200213832 0.00033
NM_001278293.3(ARL6):c.481G>T (p.Ala161Ser) rs567825969 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_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=) rs140487104 0.00033
NM_015599.3(PGM3):c.325A>T (p.Ile109Phe) rs140499200 0.00033
NM_022436.3(ABCG5):c.27C>T (p.Pro9=) rs72542428 0.00033
NM_031471.6(FERMT3):c.683+18G>A rs369707009 0.00033
NM_000051.4(ATM):c.103C>A (p.Arg35=) rs55861249 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_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_000110.4(DPYD):c.1615G>A (p.Gly539Arg) rs142619737 0.00032
NM_000256.3(MYBPC3):c.1863C>T (p.Phe621=) rs193922378 0.00032
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418 0.00032
NM_000481.4(AMT):c.101G>A (p.Arg34His) rs138259479 0.00032
NM_000527.5(LDLR):c.1977C>A (p.Thr659=) rs72658866 0.00032
NM_001042492.3(NF1):c.4851A>G (p.Gln1617=) rs150309802 0.00032
NM_001267550.2(TTN):c.156C>T (p.Pro52=) rs72647842 0.00032
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990 0.00032
NM_001267550.2(TTN):c.39128-14T>C rs200916144 0.00032
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=) rs184863287 0.00032
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly) rs184779459 0.00032
NM_002474.3(MYH11):c.5635G>A (p.Val1879Ile) rs138206921 0.00032
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys) rs727503828 0.00032
NM_005502.4(ABCA1):c.5039G>A (p.Arg1680Gln) rs150125857 0.00032
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890 0.00032
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp) rs150036969 0.00032
NM_020778.5(ALPK3):c.1737C>T (p.Ser579=) rs115301935 0.00032
NM_053025.4(MYLK):c.5302A>G (p.Ser1768Gly) rs149866482 0.00032
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459 0.00031
NM_000055.4(BCHE):c.435T>A (p.Gly145=) rs71534242 0.00031
NM_000069.3(CACNA1S):c.2957G>A (p.Arg986His) rs140453525 0.00031
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_000419.5(ITGA2B):c.1821G>A (p.Thr607=) rs139878415 0.00031
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755 0.00031
NM_001035.3(RYR2):c.12842C>T (p.Thr4281Met) rs201829896 0.00031
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr) rs181189778 0.00031
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=) rs372382315 0.00031
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862 0.00031
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val) rs72648221 0.00031
NM_001267550.2(TTN):c.86526T>G (p.Val28842=) rs72648226 0.00031
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_001378454.1(ALMS1):c.1338+19A>G rs145633676 0.00031
NM_002474.3(MYH11):c.2648C>T (p.Ser883Leu) rs35035518 0.00031
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser) rs113696032 0.00031
NM_003118.4(SPARC):c.36C>T (p.Ala12=) rs200112320 0.00031
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr) rs114322958 0.00031
NM_005188.4(CBL):c.1287C>T (p.Ile429=) rs148368481 0.00031
NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala) rs142951316 0.00031
NM_030662.4(MAP2K2):c.1191C>T (p.Arg397=) rs148592592 0.00031
NM_031407.7(HUWE1):c.2050-9G>T rs377186422 0.00031
NM_054012.4(ASS1):c.333C>T (p.Ala111=) rs141568959 0.00031
NM_174934.4(SCN4B):c.607G>A (p.Val203Met) rs150312046 0.00031
NM_182760.4(SUMF1):c.891C>T (p.Asn297=) rs143754187 0.00031
NM_000051.4(ATM):c.7044G>A (p.Thr2348=) rs140104789 0.00030
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990 0.00030
NM_000302.4(PLOD1):c.1495C>T (p.Arg499Trp) rs149124387 0.00030
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_000546.6(TP53):c.173C>G (p.Pro58Arg) rs144386518 0.00030
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser) rs201081663 0.00030
NM_001159699.2(FHL1):c.331C>T (p.Arg111Trp) rs150911744 0.00030
NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val) rs201870762 0.00030
NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr) rs371452173 0.00030
NM_001267550.2(TTN):c.39057G>A (p.Pro13019=) rs371945519 0.00030
NM_001267550.2(TTN):c.70906C>T (p.Arg23636Cys) rs189208539 0.00030
NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr) rs180828370 0.00030
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu) rs200181804 0.00030
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys) rs202064385 0.00030
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys) rs140596256 0.00030
NM_002834.5(PTPN11):c.643-6dup rs758889732 0.00030
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000059.4(BRCA2):c.9925G>A (p.Glu3309Lys) rs80359251 0.00029
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys) rs140644696 0.00029
NM_000155.4(GALT):c.498T>C (p.Pro166=) rs193922249 0.00029
NM_000243.3(MEFV):c.1827C>G (p.Pro609=) rs104895135 0.00029
NM_000249.4(MLH1):c.1897-17C>G rs2308316 0.00029
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292 0.00029
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_000465.4(BARD1):c.1515G>T (p.Gly505=) rs139721211 0.00029
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00029
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562 0.00029
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386 0.00029
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391 0.00029
NM_001002294.3(FMO3):c.341A>G (p.Asn114Ser) rs186763441 0.00029
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) rs147205617 0.00029
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu) rs143502927 0.00029
NM_001267550.2(TTN):c.14451A>G (p.Thr4817=) rs370621465 0.00029
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile) rs376768790 0.00029
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met) rs200593368 0.00029
NM_001267550.2(TTN):c.62317C>A (p.Leu20773Met) rs375173874 0.00029
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val) rs72646898 0.00029
NM_001267550.2(TTN):c.79085T>C (p.Met26362Thr) rs529839486 0.00029
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_002471.4(MYH6):c.5410C>A (p.Gln1804Lys) rs144571463 0.00029
NM_002471.4(MYH6):c.831G>T (p.Gln277His) rs140660481 0.00029
NM_002474.3(MYH11):c.1502G>A (p.Arg501His) rs144244239 0.00029
NM_002755.4(MAP2K1):c.848C>T (p.Ala283Val) rs144080051 0.00029
NM_005094.4(SLC27A4):c.314G>A (p.Arg105His) rs142664086 0.00029
NM_005502.4(ABCA1):c.1486C>T (p.Arg496Trp) rs147675550 0.00029
NM_006514.4(SCN10A):c.3482T>C (p.Met1161Thr) rs200713724 0.00029
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro) rs374659816 0.00029
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017 0.00029
NM_053025.4(MYLK):c.2485G>A (p.Glu829Lys) rs370190691 0.00029
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu) rs150597050 0.00029
NM_139076.3(ABRAXAS1):c.1056T>G (p.Asp352Glu) rs773812911 0.00029
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988 0.00028
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
NM_000256.3(MYBPC3):c.1602G>A (p.Ala534=) rs370945942 0.00028
NM_000301.5(PLG):c.12G>A (p.Lys4=) rs4252061 0.00028
NM_000492.4(CFTR):c.1584+12T>C rs193922502 0.00028
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser) rs376857956 0.00028
NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=) rs202200861 0.00028
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala) rs200689750 0.00028
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr) rs146941600 0.00028
NM_002474.3(MYH11):c.2075C>T (p.Ala692Val) rs148893135 0.00028
NM_002878.4(RAD51D):c.216C>T (p.Tyr72=) rs148690585 0.00028
NM_139076.3(ABRAXAS1):c.125A>G (p.Lys42Arg) rs201948472 0.00028
NM_000023.4(SGCA):c.662G>A (p.Arg221His) rs138254713 0.00027
NM_001267550.2(TTN):c.102696C>T (p.Val34232=) rs202180775 0.00027
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser) rs200866883 0.00027
NM_001267550.2(TTN):c.41330-7T>A rs373636988 0.00027
NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val) rs374058726 0.00027
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr) rs183276016 0.00027
NM_001360.3(DHCR7):c.139C>T (p.Leu47=) rs140721259 0.00027
NM_002471.4(MYH6):c.3199A>G (p.Ser1067Gly) rs145508517 0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_006949.4(STXBP2):c.1357-13G>A rs370994106 0.00027
NM_007194.4(CHEK2):c.663C>G (p.Ile221Met) rs200451612 0.00027
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893 0.00027
NM_000038.6(APC):c.8266A>G (p.Ile2756Val) rs146115809 0.00026
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00026
NM_000059.4(BRCA2):c.2208A>G (p.Ala736=) rs144984153 0.00026
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=) rs587780866 0.00026
NM_000069.3(CACNA1S):c.4747G>A (p.Glu1583Lys) rs148273582 0.00026
NM_000077.5(CDKN2A):c.318G>A (p.Val106=) rs199888003 0.00026
NM_000081.4(LYST):c.6487G>A (p.Ala2163Thr) rs201513511 0.00026
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207 0.00026
NM_000451.4(SHOX):c.86A>C (p.Lys29Thr) rs146304983 0.00026
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr) rs141723617 0.00026
NM_000527.5(LDLR):c.1056C>T (p.Cys352=) rs13306515 0.00026
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962 0.00026
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328 0.00026
NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln) rs199776761 0.00026
NM_001005242.3(PKP2):c.696C>T (p.Asp232=) rs375677250 0.00026
NM_001042492.3(NF1):c.5883G>A (p.Lys1961=) rs144808600 0.00026
NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser) rs149433837 0.00026
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461 0.00026
NM_001267550.2(TTN):c.25809G>A (p.Ser8603=) rs369099681 0.00026
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) rs199640194 0.00026
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met) rs368867993 0.00026
NM_001267550.2(TTN):c.79941A>G (p.Gln26647=) rs72648208 0.00026
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=) rs373206096 0.00026
NM_001384140.1(PCDH15):c.3724G>A (p.Val1242Met) rs201137087 0.00026
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_005502.4(ABCA1):c.2235G>T (p.Leu745=) rs374418354 0.00026
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser) rs144934321 0.00026
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln) rs146370443 0.00026
NM_005732.4(RAD50):c.2288G>A (p.Arg763His) rs141989813 0.00026
NM_005751.5(AKAP9):c.8656A>G (p.Ile2886Val) rs143283097 0.00026
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala) rs138251566 0.00026
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr) rs45577134 0.00026
NM_022114.4(PRDM16):c.1882G>A (p.Asp628Asn) rs199895459 0.00026
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_033343.4(LHX4):c.37G>A (p.Val13Ile) rs146664099 0.00026
NM_144670.6(A2ML1):c.2395T>G (p.Ser799Ala) rs374408168 0.00026
NM_145261.4(DNAJC19):c.331G>C (p.Glu111Gln) rs370042988 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=) rs79688066 0.00025
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126 0.00025
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575 0.00025
NM_001267550.2(TTN):c.39690G>A (p.Ala13230=) rs528832388 0.00025
NM_002230.4(JUP):c.1910G>A (p.Arg637His) rs142095597 0.00025
NM_002474.3(MYH11):c.5393G>A (p.Arg1798Gln) rs148938946 0.00025
NM_002878.4(RAD51D):c.413A>G (p.Asn138Ser) rs201676898 0.00025
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_005732.4(RAD50):c.2177G>A (p.Arg726His) rs28903092 0.00025
NM_005732.4(RAD50):c.3455G>A (p.Arg1152Gln) rs144253015 0.00025
NM_006767.4(LZTR1):c.1939A>G (p.Ile647Val) rs148916790 0.00025
NM_014000.3(VCL):c.1294C>G (p.Leu432Val) rs144146254 0.00025
NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala) rs139579816 0.00025
NM_058216.3(RAD51C):c.922G>T (p.Ala308Ser) rs185057307 0.00025
NM_172201.2(KCNE2):c.29C>T (p.Thr10Met) rs199473648 0.00025
NM_000089.4(COL1A2):c.945C>T (p.Pro315=) rs147058179 0.00024
NM_000251.3(MSH2):c.1277-16T>C rs368653974 0.00024
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly) rs145009419 0.00024
NM_000466.3(PEX1):c.2868T>A (p.Val956=) rs200663477 0.00024
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys) rs551099887 0.00024
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser) rs200271618 0.00024
NM_001267550.2(TTN):c.17740+17T>C rs369532031 0.00024
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=) rs190604150 0.00024
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys) rs72646839 0.00024
NM_001267550.2(TTN):c.68082C>T (p.Cys22694=) rs79406408 0.00024
NM_001354712.2(THRB):c.1299C>T (p.Ala433=) rs144206187 0.00024
NM_001853.4(COL9A3):c.345+15T>C rs542217955 0.00024
NM_004655.4(AXIN2):c.1491C>T (p.Cys497=) rs150292240 0.00024
NM_005629.4(SLC6A8):c.1678A>G (p.Met560Val) rs145438966 0.00024
NM_005732.4(RAD50):c.1336A>G (p.Lys446Glu) rs149217423 0.00024
NM_006767.4(LZTR1):c.1333G>A (p.Val445Met) rs201070853 0.00024
NM_007294.4(BRCA1):c.528G>A (p.Thr176=) rs34545365 0.00024
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His) rs116911972 0.00024
NM_024334.3(TMEM43):c.564C>T (p.Gly188=) rs143124744 0.00024
NM_024422.6(DSC2):c.857G>T (p.Gly286Val) rs199682735 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_080680.3(COL11A2):c.1819-10G>A rs3129202 0.00024
NM_133433.4(NIPBL):c.5101T>C (p.Ser1701Pro) rs139819353 0.00024
NM_174936.4(PCSK9):c.1294G>A (p.Asp432Asn) rs72646515 0.00024
NM_000040.3(APOC3):c.179+1G>T rs140621530 0.00023
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser) rs267608026 0.00023
NM_000238.4(KCNH2):c.2729C>T (p.Pro910Leu) rs199473436 0.00023
NM_000277.3(PAH):c.1161C>T (p.Tyr387=) rs149595475 0.00023
NM_001110556.2(FLNA):c.4970-18C>A rs200639431 0.00023
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397 0.00023
NM_002185.5(IL7R):c.707G>A (p.Gly236Glu) rs201084372 0.00023
NM_003597.5(KLF11):c.1448C>T (p.Pro483Leu) rs201735305 0.00023
NM_004360.5(CDH1):c.8C>G (p.Pro3Arg) rs587782484 0.00023
NM_005591.4(MRE11):c.1286T>C (p.Val429Ala) rs141293060 0.00023
NM_006892.4(DNMT3B):c.1211A>G (p.Tyr404Cys) rs143462810 0.00023
NM_014844.5(TECPR2):c.4035C>T (p.Ala1345=) rs376614211 0.00023
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_053025.4(MYLK):c.4184T>C (p.Leu1395Pro) rs146576868 0.00023
NM_144670.6(A2ML1):c.4018C>A (p.Gln1340Lys) rs182743597 0.00023
NM_000237.3(LPL):c.687T>C (p.His229=) rs45607438 0.00022
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_000256.3(MYBPC3):c.3228C>T (p.Asp1076=) rs369999866 0.00022
NM_000368.5(TSC1):c.1006C>T (p.Arg336Trp) rs118203483 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_001005242.3(PKP2):c.198G>A (p.Arg66=) rs144106848 0.00022
NM_001079.4(ZAP70):c.756G>A (p.Glu252=) rs150682182 0.00022
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572 0.00022
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=) rs183336802 0.00022
NM_001267550.2(TTN):c.54811+15G>A rs201450276 0.00022
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu) rs189030321 0.00022
NM_001267550.2(TTN):c.96015C>T (p.Pro32005=) rs183620684 0.00022
NM_001367561.1(DOCK7):c.2113-18A>G rs201000785 0.00022
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu) rs372619046 0.00022
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_004612.4(TGFBR1):c.415A>G (p.Ile139Val) rs148176750 0.00022
NM_005592.4(MUSK):c.549A>G (p.Glu183=) rs369254308 0.00022
NM_005732.4(RAD50):c.1677C>T (p.His559=) rs142619269 0.00022
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=) rs80356833 0.00022
NM_014000.3(VCL):c.1744-19T>G rs201488697 0.00022
NM_016938.5(EFEMP2):c.1026C>T (p.Ser342=) rs2234471 0.00022
NM_024409.4(NPPC):c.159C>A (p.Gly53=) rs375846160 0.00022
NM_024426.6(WT1):c.760C>T (p.Pro254Ser) rs2234584 0.00022
NM_032119.4(ADGRV1):c.8204A>G (p.Asn2735Ser) rs200604083 0.00022
NM_053025.4(MYLK):c.4322-11G>A rs371724615 0.00022
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907 0.00022
NM_000038.6(APC):c.564A>G (p.Gln188=) rs377493489 0.00021
NM_000038.6(APC):c.8462A>G (p.Asp2821Gly) rs780049836 0.00021
NM_000059.4(BRCA2):c.8154T>C (p.Ile2718=) rs148880015 0.00021
NM_000117.3(EMD):c.639T>C (p.Pro213=) rs782196388 0.00021
NM_000132.4(F8):c.1866T>C (p.Leu622=) rs1800290 0.00021
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_000237.3(LPL):c.189C>T (p.Ser63=) rs114726797 0.00021
NM_000335.5(SCN5A):c.3375A>G (p.Pro1125=) rs372328054 0.00021
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=) rs144249535 0.00021
NM_000465.4(BARD1):c.1347A>G (p.Gln449=) rs373257776 0.00021
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu) rs367890377 0.00021
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132 0.00021
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg) rs200121281 0.00021
NM_001103.4(ACTN2):c.1106C>T (p.Ser369Leu) rs747400815 0.00021
NM_001206744.2(TPO):c.1082G>T (p.Arg361Leu) rs201781919 0.00021
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys) rs376593556 0.00021
NM_001267550.2(TTN):c.28644G>A (p.Thr9548=) rs376744914 0.00021
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys) rs201035457 0.00021
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837 0.00021
NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu) rs190967471 0.00021
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=) rs201478438 0.00021
NM_001378454.1(ALMS1):c.822T>C (p.Ser274=) rs145009331 0.00021
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser) rs376051686 0.00021
NM_002474.3(MYH11):c.1078G>A (p.Val360Ile) rs111677442 0.00021
NM_002578.5(PAK3):c.1579A>G (p.Ser527Gly) rs200474454 0.00021
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys) rs565502802 0.00021
NM_004006.3(DMD):c.5163G>C (p.Lys1721Asn) rs72468630 0.00021
NM_004100.5(EYA4):c.987G>T (p.Met329Ile) rs146144708 0.00021
NM_006767.4(LZTR1):c.1412G>A (p.Arg471His) rs139031749 0.00021
NM_006767.4(LZTR1):c.678A>T (p.Pro226=) rs200001328 0.00021
NM_006915.3(RP2):c.1001C>A (p.Ser334Tyr) rs139796627 0.00021
NM_007294.4(BRCA1):c.3804T>C (p.Asn1268=) rs140588714 0.00021
NM_012114.3(CASP14):c.729G>A (p.Ter243=) rs202004752 0.00021
NM_015627.3(LDLRAP1):c.78C>T (p.Gly26=) rs928922661 0.00021
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678 0.00021
NM_024675.4(PALB2):c.1281T>C (p.Ala427=) rs138697796 0.00021
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00021
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly) rs45594034 0.00021
NM_144670.6(A2ML1):c.2404C>T (p.Arg802Cys) rs367937691 0.00021
NM_000059.4(BRCA2):c.2589T>A (p.Asn863Lys) rs80358521 0.00020
NM_000059.4(BRCA2):c.5020A>G (p.Ser1674Gly) rs80358725 0.00020
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906 0.00020
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val) rs748568687 0.00020
NM_001148.6(ANK2):c.5240C>G (p.Pro1747Arg) rs200628845 0.00020
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp) rs200726948 0.00020
NM_003098.3(SNTA1):c.566C>T (p.Ser189Leu) rs144860423 0.00020
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240 0.00020
NM_004612.4(TGFBR1):c.49C>T (p.Leu17=) rs878854714 0.00020
NM_005732.4(RAD50):c.2525T>C (p.Val842Ala) rs28903093 0.00020
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile) rs200705273 0.00020
NM_006939.4(SOS2):c.3769A>G (p.Asn1257Asp) rs150393358 0.00020
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe) rs369588942 0.00020
NM_014908.4(DOLK):c.159C>G (p.Ala53=) rs199857223 0.00020
NM_017617.5(NOTCH1):c.7090A>G (p.Ser2364Gly) rs201045092 0.00020
NM_022436.3(ABCG5):c.897C>T (p.Asp299=) rs373237261 0.00020
NM_024675.4(PALB2):c.2244A>G (p.Thr748=) rs750048627 0.00020
NM_053025.4(MYLK):c.455G>A (p.Arg152His) rs201754358 0.00020
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 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_000059.4(BRCA2):c.6921A>G (p.Ser2307=) rs181183366 0.00019
NM_000059.4(BRCA2):c.8487+8G>A rs81002838 0.00019
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg) rs55847618 0.00019
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153 0.00019
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509 0.00019
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278 0.00019
NM_000212.3(ITGB3):c.900T>C (p.His300=) rs376378154 0.00019
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_000256.3(MYBPC3):c.207G>C (p.Arg69=) rs397515946 0.00019
NM_000257.4(MYH7):c.5412C>G (p.Ala1804=) rs147433856 0.00019
NM_000257.4(MYH7):c.796+7G>A rs369286647 0.00019
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) rs397516338 0.00019
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys) rs118203532 0.00019
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095 0.00019
NM_000465.4(BARD1):c.57G>A (p.Glu19=) rs730881406 0.00019
NM_000527.5(LDLR):c.1530G>A (p.Thr510=) rs367655096 0.00019
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687 0.00019
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala) rs35993958 0.00019
NM_000548.5(TSC2):c.2295C>T (p.Ala765=) rs45509500 0.00019
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122 0.00019
NM_001267550.2(TTN):c.39616C>T (p.Pro13206Ser) rs186404793 0.00019
NM_001267550.2(TTN):c.55379C>T (p.Thr18460Ile) rs372778818 0.00019
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=) rs201837864 0.00019
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile) rs374620001 0.00019
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His) rs141258018 0.00019
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=) rs376539252 0.00019
NM_001267550.2(TTN):c.99560A>C (p.Lys33187Thr) rs560306385 0.00019
NM_001283009.2(RTEL1):c.1349-9G>A rs772899702 0.00019
NM_001378454.1(ALMS1):c.8779C>A (p.Arg2927=) rs376244626 0.00019
NM_001458.5(FLNC):c.1354G>A (p.Val452Met) rs192163925 0.00019
NM_002234.4(KCNA5):c.898G>A (p.Gly300Ser) rs148708451 0.00019
NM_002485.5(NBN):c.804G>A (p.Thr268=) rs141443872 0.00019
NM_002778.4(PSAP):c.208G>T (p.Val70Phe) rs750239809 0.00019
NM_003480.4(MFAP5):c.442C>T (p.Pro148Ser) rs148770543 0.00019
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627 0.00019
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser) rs146250423 0.00019
NM_007294.4(BRCA1):c.828A>G (p.Thr276=) rs186274774 0.00019
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) rs121908603 0.00019
NM_013275.6(ANKRD11):c.3282C>G (p.Ile1094Met) rs139384857 0.00019
NM_013975.4(LIG3):c.722C>T (p.Ser241Leu) rs201814781 0.00019
NM_024312.5(GNPTAB):c.3216A>G (p.Pro1072=) rs61935741 0.00019
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser) rs150313156 0.00019
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) rs138265409 0.00019
NM_144670.6(A2ML1):c.68A>G (p.Tyr23Cys) rs750524549 0.00019
NM_203447.4(DOCK8):c.5223+15G>T rs574618395 0.00019
NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu) rs117461552 0.00019
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932 0.00018
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr) rs555219189 0.00018
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly) rs55689095 0.00018
NM_000129.4(F13A1):c.1695G>A (p.Pro565=) rs372651461 0.00018
NM_000138.5(FBN1):c.228C>T (p.Gly76=) rs141651917 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000451.4(SHOX):c.577G>A (p.Ala193Thr) rs376330042 0.00018
NM_000527.5(LDLR):c.345C>G (p.Arg115=) rs150144164 0.00018
NM_001048174.2(MUTYH):c.1102+9A>T rs587780742 0.00018
NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr) rs138928206 0.00018
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu) rs55906845 0.00018
NM_001267550.2(TTN):c.31422G>A (p.Val10474=) rs72650020 0.00018
NM_001267550.2(TTN):c.32706G>A (p.Ala10902=) rs372124201 0.00018
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853 0.00018
NM_001267550.2(TTN):c.95961C>T (p.Ala31987=) rs369405564 0.00018
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=) rs376532382 0.00018
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=) rs369626133 0.00018
NM_002529.4(NTRK1):c.927G>A (p.Pro309=) rs144015813 0.00018
NM_002878.4(RAD51D):c.39C>G (p.Thr13=) rs146448657 0.00018
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala) rs201453600 0.00018
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326 0.00018
NM_005751.5(AKAP9):c.9763A>G (p.Arg3255Gly) rs201048693 0.00018
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser) rs142863840 0.00018
NM_020975.6(RET):c.1531G>A (p.Glu511Lys) rs201553718 0.00018
NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg) rs199643834 0.00018
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111 0.00017
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe) rs150882838 0.00017
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys) rs201314561 0.00017
NM_000053.4(ATP7B):c.2859C>T (p.Tyr953=) rs762782389 0.00017
NM_000054.7(AVPR2):c.797T>C (p.Val266Ala) rs111643041 0.00017
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=) rs147854265 0.00017
NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=) rs779774302 0.00017
NM_000238.4(KCNH2):c.3321G>A (p.Ser1107=) rs189457419 0.00017
NM_000243.3(MEFV):c.1245C>T (p.Val415=) rs104895195 0.00017
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn) rs201541505 0.00017
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499 0.00017
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_001128425.2(MUTYH):c.42C>T (p.Ile14=) rs202240122 0.00017
NM_001148.6(ANK2):c.7148C>T (p.Pro2383Leu) rs35960628 0.00017
NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro) rs201693280 0.00017
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val) rs146690035 0.00017
NM_001267550.2(TTN):c.687T>C (p.Phe229=) rs376527094 0.00017
NM_001267550.2(TTN):c.77848C>T (p.Leu25950Phe) rs376814602 0.00017
NM_001378454.1(ALMS1):c.9741A>G (p.Ser3247=) rs370844317 0.00017
NM_001384474.1(LOXHD1):c.828C>T (p.Asp276=) rs200247093 0.00017
NM_001458.5(FLNC):c.3510C>T (p.Val1170=) rs745571747 0.00017
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770 0.00017
NM_002230.4(JUP):c.1296C>T (p.Asn432=) rs544224850 0.00017
NM_003098.3(SNTA1):c.1088A>C (p.Glu363Ala) rs147964932 0.00017
NM_004415.4(DSP):c.2121C>T (p.Asn707=) rs368590198 0.00017
NM_005502.4(ABCA1):c.4250G>A (p.Arg1417His) rs116034780 0.00017
NM_005502.4(ABCA1):c.6545C>T (p.Ser2182Phe) rs369476391 0.00017
NM_005585.5(SMAD6):c.636C>T (p.Asp212=) rs575612166 0.00017
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr) rs376722127 0.00017
NM_015311.3(OBSL1):c.2012G>A (p.Arg671His) rs147793515 0.00017
NM_016169.4(SUFU):c.880G>A (p.Gly294Ser) rs143807689 0.00017
NM_016938.5(EFEMP2):c.810A>G (p.Pro270=) rs150546623 0.00017
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser) rs367825691 0.00017
NM_020297.4(ABCC9):c.4512+690C>T rs397517191 0.00017
NM_032043.3(BRIP1):c.1890A>G (p.Thr630=) rs145796331 0.00017
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser) rs550707862 0.00017
NM_032043.3(BRIP1):c.854A>G (p.His285Arg) rs141055990 0.00017
NM_144670.6(A2ML1):c.1433C>T (p.Pro478Leu) rs201762847 0.00017
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser) rs151163793 0.00016
NM_000051.4(ATM):c.7224G>A (p.Ser2408=) rs145747513 0.00016
NM_000051.4(ATM):c.8584+10T>C rs373321041 0.00016
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000059.4(BRCA2):c.3417G>A (p.Lys1139=) rs145625991 0.00016
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310 0.00016
NM_000138.5(FBN1):c.6380-3A>G rs567703513 0.00016
NM_000179.3(MSH6):c.2925C>T (p.Asn975=) rs139026662 0.00016
NM_000243.3(MEFV):c.297C>T (p.Asn99=) rs104895175 0.00016
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=) rs376041792 0.00016
NM_000268.4(NF2):c.613A>G (p.Met205Val) rs141629512 0.00016
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00016
NM_000352.6(ABCC8):c.3000C>T (p.Cys1000=) rs192863214 0.00016
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp) rs145258293 0.00016
NM_000419.5(ITGA2B):c.1394-14C>T rs368062044 0.00016
NM_000492.4(CFTR):c.-4G>C rs369326781 0.00016
NM_000500.9(CYP21A2):c.342C>T (p.Ser114=) rs193922546 0.00016
NM_000518.5(HBB):c.207C>T (p.Leu69=) rs112287010 0.00016
NM_000525.4(KCNJ11):c.1017G>T (p.Val339=) rs770408379 0.00016
NM_000527.5(LDLR):c.564C>T (p.Tyr188=) rs121908034 0.00016
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722 0.00016
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673 0.00016
NM_000548.5(TSC2):c.3475C>T (p.Arg1159Trp) rs45517295 0.00016
NM_000719.7(CACNA1C):c.5143C>A (p.Arg1715=) rs373996684 0.00016
NM_001005242.3(PKP2):c.1504G>A (p.Ala502Thr) rs368740836 0.00016
NM_001035.3(RYR2):c.2755G>A (p.Val919Met) rs201079716 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_001060.6(TBXA2R):c.713A>G (p.Asp238Gly) rs201310328 0.00016
NM_001105206.3(LAMA4):c.3175G>A (p.Val1059Met) rs373650093 0.00016
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00016
NM_001267550.2(TTN):c.28547G>A (p.Arg9516His) rs374156904 0.00016
NM_001267550.2(TTN):c.66549C>T (p.Asp22183=) rs374667295 0.00016
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=) rs72648230 0.00016
NM_001378454.1(ALMS1):c.4149A>G (p.Gln1383=) rs370508895 0.00016
NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys) rs200206944 0.00016
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp) rs763039506 0.00016
NM_001854.4(COL11A1):c.2295+6G>A rs372529718 0.00016
NM_001876.4(CPT1A):c.1770G>A (p.Glu590=) rs61731905 0.00016
NM_001927.4(DES):c.643G>A (p.Val215Met) rs144908941 0.00016
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr) rs397516775 0.00016
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=) rs147605116 0.00016
NM_002474.3(MYH11):c.3932C>T (p.Ala1311Val) rs185720909 0.00016
NM_002485.5(NBN):c.2202A>G (p.Ala734=) rs200452212 0.00016
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_003235.5(TG):c.3174C>T (p.Phe1058=) rs140301550 0.00016
NM_004004.6(GJB2):c.186C>T (p.Asn62=) rs397516869 0.00016
NM_004004.6(GJB2):c.225G>T (p.Arg75=) rs149137695 0.00016
NM_004281.4(BAG3):c.1588G>A (p.Val530Met) rs144678100 0.00016
NM_004281.4(BAG3):c.653G>A (p.Arg218Gln) rs201638005 0.00016
NM_004360.5(CDH1):c.1568A>G (p.Tyr523Cys) rs553907248 0.00016
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg) rs200421954 0.00016
NM_005257.6(GATA6):c.271C>T (p.Pro91Ser) rs766886560 0.00016
NM_005502.4(ABCA1):c.4773+6C>T rs368667473 0.00016
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr) rs373522639 0.00016
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys) rs202043599 0.00016
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734 0.00016
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile) rs202094530 0.00016
NM_006172.4(NPPA):c.449G>A (p.Arg150Gln) rs202102042 0.00016
NM_006506.5(RASA2):c.1960G>A (p.Val654Ile) rs150847466 0.00016
NM_006949.4(STXBP2):c.1530C>T (p.Ala510=) rs755717157 0.00016
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp) rs80357075 0.00016
NM_014795.4(ZEB2):c.3057C>T (p.Tyr1019=) rs541915540 0.00016
NM_015311.3(OBSL1):c.2887G>A (p.Glu963Lys) rs199584687 0.00016
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu) rs201163739 0.00016
NM_018136.5(ASPM):c.8187A>G (p.Lys2729=) rs779442940 0.00016
NM_022437.3(ABCG8):c.384G>A (p.Lys128=) rs764690028 0.00016
NM_024675.4(PALB2):c.1564C>T (p.Pro522Ser) rs373876101 0.00016
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00016
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=) rs200511208 0.00016
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg) rs200753280 0.00016
NM_152415.3(VPS37A):c.918G>A (p.Gln306=) rs370931373 0.00016
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946 0.00016
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808 0.00015
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712 0.00015
NM_000059.4(BRCA2):c.8499G>A (p.Lys2833=) rs558819788 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_000153.4(GALC):c.1335A>G (p.Leu445=) rs373277798 0.00015
NM_000155.4(GALT):c.564+15G>A rs111033732 0.00015
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676 0.00015
NM_000243.3(MEFV):c.1518C>T (p.Ile506=) rs104895099 0.00015
NM_000302.4(PLOD1):c.897G>A (p.Pro299=) rs199946373 0.00015
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu) rs139107479 0.00015
NM_000465.4(BARD1):c.1554C>T (p.Ala518=) rs139612775 0.00015
NM_000465.4(BARD1):c.44G>T (p.Arg15Leu) rs545107676 0.00015
NM_000492.4(CFTR):c.360G>A (p.Ala120=) rs1800077 0.00015
NM_000535.7(PMS2):c.1944T>C (p.Phe648=) rs144011908 0.00015
NM_001032283.3(TMPO):c.565+2376C>T rs202035749 0.00015
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser) rs199966218 0.00015
NM_001079802.2(FKTN):c.333T>C (p.Thr111=) rs141729611 0.00015
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) rs367566671 0.00015
NM_001267550.2(TTN):c.80527T>C (p.Leu26843=) rs142004835 0.00015
NM_001378454.1(ALMS1):c.3945G>A (p.Ala1315=) rs201474138 0.00015
NM_001384474.1(LOXHD1):c.2640C>T (p.Leu880=) rs374614343 0.00015
NM_002317.7(LOX):c.308G>C (p.Arg103Pro) rs200513395 0.00015
NM_004006.3(DMD):c.2575A>T (p.Thr859Ser) rs187926894 0.00015
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn) rs372989292 0.00015
NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys) rs186333183 0.00015
NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg) rs145428112 0.00015
NM_005732.4(RAD50):c.2688T>C (p.Thr896=) rs537257801 0.00015
NM_006231.4(POLE):c.2974G>A (p.Ala992Thr) rs115193764 0.00015
NM_006767.4(LZTR1):c.594-3C>T rs373968693 0.00015
NM_007078.3(LDB3):c.492G>T (p.Pro164=) rs368407147 0.00015
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745 0.00015
NM_030777.4(SLC2A10):c.315C>T (p.Arg105=) rs150800734 0.00015
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg) rs147008323 0.00015
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe) rs200424447 0.00015
NM_000038.6(APC):c.2640C>T (p.Ile880=) rs200184105 0.00014
NM_000038.6(APC):c.7109G>T (p.Gly2370Val) rs140079759 0.00014
NM_000051.4(ATM):c.3077+4G>A rs201222237 0.00014
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp) rs147600485 0.00014
NM_000053.4(ATP7B):c.3006C>T (p.Ala1002=) rs369620062 0.00014
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr) rs55854959 0.00014
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380 0.00014
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=) rs144822241 0.00014
NM_000138.5(FBN1):c.7661G>A (p.Arg2554Gln) rs199522781 0.00014
NM_000169.3(GLA):c.-8C>G rs371291716 0.00014
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg) rs267608051 0.00014
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile) rs77442996 0.00014
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly) rs63750650 0.00014
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser) rs201118107 0.00014
NM_000257.4(MYH7):c.3861G>C (p.Leu1287=) rs150292548 0.00014
NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu) rs201595274 0.00014
NM_000383.4(AIRE):c.1104G>A (p.Pro368=) rs377079396 0.00014
NM_000384.3(APOB):c.10385A>G (p.Tyr3462Cys) rs200305144 0.00014
NM_000435.3(NOTCH3):c.4455C>T (p.Asp1485=) rs552265898 0.00014
NM_000465.4(BARD1):c.1203T>C (p.Ser401=) rs370553043 0.00014
NM_000465.4(BARD1):c.279A>G (p.Gln93=) rs370000575 0.00014
NM_000492.4(CFTR):c.2559T>C (p.Ile853=) rs1800104 0.00014
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys) rs112795811 0.00014
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790 0.00014
NM_001035.3(RYR2):c.1476+4C>T rs369442980 0.00014
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_001035.3(RYR2):c.8367T>C (p.Ile2789=) rs563219502 0.00014
NM_001042492.3(NF1):c.2133C>T (p.Arg711=) rs148085908 0.00014
NM_001110556.2(FLNA):c.2454C>T (p.Ala818=) rs374672498 0.00014
NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu) rs730880184 0.00014
NM_001165963.4(SCN1A):c.579C>T (p.Leu193=) rs116478064 0.00014
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=) rs371535721 0.00014
NM_001267550.2(TTN):c.46800A>G (p.Glu15600=) rs190058852 0.00014
NM_001267550.2(TTN):c.52331G>A (p.Arg17444His) rs376080116 0.00014
NM_001267550.2(TTN):c.59282A>G (p.Asn19761Ser) rs563969986 0.00014
NM_001267550.2(TTN):c.72720T>A (p.Val24240=) rs550285671 0.00014
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly) rs145373396 0.00014
NM_001267550.2(TTN):c.89946C>T (p.Val29982=) rs373311459 0.00014
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=) rs371656672 0.00014
NM_001378454.1(ALMS1):c.9633G>A (p.Lys3211=) rs373013570 0.00014
NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser) rs374124083 0.00014
NM_002303.6(LEPR):c.3423C>T (p.Tyr1141=) rs193922651 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283 0.00014
NM_004100.5(EYA4):c.1418G>T (p.Gly473Val) rs146977269 0.00014
NM_004329.3(BMPR1A):c.1235T>C (p.Val412Ala) rs576247658 0.00014
NM_004333.6(BRAF):c.1141-12A>G rs375704079 0.00014
NM_004655.4(AXIN2):c.1975C>T (p.Arg659Trp) rs142670753 0.00014
NM_005502.4(ABCA1):c.6083C>T (p.Ala2028Val) rs200788099 0.00014
NM_005502.4(ABCA1):c.6730G>A (p.Val2244Ile) rs144588452 0.00014
NM_005751.5(AKAP9):c.10741T>G (p.Cys3581Gly) rs149819328 0.00014
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr) rs77447750 0.00014
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys) rs372901803 0.00014
NM_006767.4(LZTR1):c.488C>T (p.Thr163Met) rs200806641 0.00014
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148 0.00014
NM_007294.4(BRCA1):c.1561G>A (p.Ala521Thr) rs80357122 0.00014
NM_007294.4(BRCA1):c.5194-18G>T rs80358090 0.00014
NM_016938.5(EFEMP2):c.1095G>A (p.Ala365=) rs369627072 0.00014
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn) rs200254239 0.00014
NM_017668.3(NDE1):c.990G>A (p.Arg330=) rs143588920 0.00014
NM_024422.6(DSC2):c.2226A>G (p.Thr742=) rs142807209 0.00014
NM_024675.4(PALB2):c.2586+10A>G rs373321719 0.00014
NM_030662.4(MAP2K2):c.784G>A (p.Val262Ile) rs138873805 0.00014
NM_032043.3(BRIP1):c.595C>T (p.Leu199=) rs144969738 0.00014
NM_033118.4(MYLK2):c.260C>T (p.Ala87Val) rs121908107 0.00014
NM_139076.3(ABRAXAS1):c.941A>G (p.Asn314Ser) rs376489465 0.00014
NM_144670.6(A2ML1):c.1856G>C (p.Trp619Ser) rs369180298 0.00014
NM_144670.6(A2ML1):c.277G>T (p.Val93Leu) rs775011475 0.00014
NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys) rs151193009 0.00014
NM_181507.2(HPS5):c.1514A>G (p.Asn505Ser) rs143265437 0.00014
NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr) rs202218948 0.00014
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=) rs397517991 0.00014
NM_000051.4(ATM):c.1773T>C (p.Asn591=) rs61734356 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_000059.4(BRCA2):c.6960G>A (p.Leu2320=) rs373134168 0.00013
NM_000071.3(CBS):c.1341C>T (p.Pro447=) rs371493662 0.00013
NM_000071.3(CBS):c.489T>C (p.Tyr163=) rs61735858 0.00013
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720 0.00013
NM_000075.4(CDK4):c.834T>C (p.Phe278=) rs115576923 0.00013
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His) rs144751329 0.00013
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His) rs370069953 0.00013
NM_000157.4(GBA1):c.58A>G (p.Ile20Val) rs143187997 0.00013
NM_000162.5(GCK):c.1288C>T (p.Leu430=) rs193922276 0.00013
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro) rs763702846 0.00013
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664 0.00013
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly) rs554012110 0.00013
NM_000190.4(HMBS):c.33+15G>A rs372520245 0.00013
NM_000219.6(KCNE1):c.8T>C (p.Leu3Pro) rs567021150 0.00013
NM_000302.4(PLOD1):c.853C>T (p.Leu285=) rs370663808 0.00013
NM_000314.6(PTEN):c.-909T>C rs550385924 0.00013
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=) rs541538556 0.00013
NM_000455.5(STK11):c.1071G>T (p.Glu357Asp) rs556651007 0.00013
NM_000484.4(APP):c.355+9G>A rs371324252 0.00013
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649 0.00013
NM_000535.7(PMS2):c.240C>T (p.Phe80=) rs143162541 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_000545.8(HNF1A):c.521C>T (p.Ala174Val) rs201934320 0.00013
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624 0.00013
NM_001042492.3(NF1):c.1599C>G (p.Val533=) rs369458366 0.00013
NM_001042492.3(NF1):c.2838C>T (p.Asp946=) rs147188807 0.00013
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=) rs371581213 0.00013
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met) rs727504590 0.00013
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) rs375205247 0.00013
NM_001134363.3(RBM20):c.1050C>T (p.Tyr350=) rs778124998 0.00013
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=) rs374879942 0.00013
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=) rs72648997 0.00013
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser) rs199929362 0.00013
NM_001354712.2(THRB):c.283+12T>C rs372413180 0.00013
NM_001374353.1(GLI2):c.4014A>G (p.Gln1338=) rs374113689 0.00013
NM_001395413.1(POR):c.335C>T (p.Ala112Val) rs199634961 0.00013
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser) rs368512832 0.00013
NM_002230.4(JUP):c.545C>T (p.Ser182Leu) rs145592971 0.00013
NM_002471.4(MYH6):c.1252G>A (p.Val418Met) rs147606900 0.00013
NM_002474.3(MYH11):c.4034G>A (p.Arg1345Gln) rs150883363 0.00013
NM_002691.4(POLD1):c.371T>C (p.Val124Ala) rs199993010 0.00013
NM_002880.4(RAF1):c.94A>G (p.Ile32Val) rs372738063 0.00013
NM_003239.5(TGFB3):c.88T>C (p.Leu30=) rs3917145 0.00013
NM_003466.4(PAX8):c.1150G>A (p.Gly384Ser) rs199820445 0.00013
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser) rs200911775 0.00013
NM_004415.4(DSP):c.1575-15C>G rs369184165 0.00013
NM_004612.4(TGFBR1):c.1497A>G (p.Glu499=) rs200055681 0.00013
NM_005633.4(SOS1):c.1668A>C (p.Val556=) rs376314461 0.00013
NM_005633.4(SOS1):c.3600C>G (p.Asp1200Glu) rs141594736 0.00013
NM_005633.4(SOS1):c.3946C>G (p.His1316Asp) rs371024396 0.00013
NM_005751.5(AKAP9):c.2311G>A (p.Ala771Thr) rs148267537 0.00013
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878 0.00013
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305 0.00013
NM_013975.4(LIG3):c.1835A>T (p.Glu612Val) rs201705066 0.00013
NM_014000.3(VCL):c.1403C>T (p.Thr468Met) rs147957747 0.00013
NM_024675.4(PALB2):c.1641C>T (p.Thr547=) rs564514783 0.00013
NM_024675.4(PALB2):c.232G>A (p.Val78Ile) rs515726085 0.00013
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793 0.00013
NM_033118.4(MYLK2):c.381G>A (p.Arg127=) rs141524173 0.00013
NM_053025.4(MYLK):c.2629G>A (p.Val877Met) rs34542174 0.00013
NM_053025.4(MYLK):c.5046C>T (p.Asp1682=) rs372695434 0.00013
NM_053025.4(MYLK):c.5535T>C (p.Asp1845=) rs748934365 0.00013
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His) rs201562272 0.00013
NM_144670.6(A2ML1):c.2840C>T (p.Thr947Met) rs199873022 0.00013
NM_152594.3(SPRED1):c.938C>T (p.Thr313Met) rs766814966 0.00013
NM_201596.3(CACNB2):c.306G>A (p.Gln102=) rs571930944 0.00013
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494 0.00012
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp) rs200794097 0.00012
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262 0.00012
NM_000059.4(BRCA2):c.7278T>A (p.Ile2426=) rs372377916 0.00012
NM_000249.4(MLH1):c.1050A>G (p.Pro350=) rs137937003 0.00012
NM_000249.4(MLH1):c.843A>C (p.Ala281=) rs146796765 0.00012
NM_000256.3(MYBPC3):c.666C>T (p.Phe222=) rs371331114 0.00012
NM_000257.4(MYH7):c.4953+17G>A rs376604168 0.00012
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile) rs147025073 0.00012
NM_000465.4(BARD1):c.1152C>T (p.Ser384=) rs368291318 0.00012
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=) rs148878126 0.00012
NM_000500.9(CYP21A2):c.327C>G (p.Ser109=) rs193922545 0.00012
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984 0.00012
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796 0.00012
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys) rs372297364 0.00012
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu) rs377123510 0.00012
NM_001005242.3(PKP2):c.306C>A (p.Ser102=) rs376613662 0.00012
NM_001103.4(ACTN2):c.1748A>G (p.Glu583Gly) rs200631005 0.00012
NM_001110792.2(MECP2):c.669G>C (p.Arg223Ser) rs61749731 0.00012
NM_001267550.2(TTN):c.28542G>A (p.Glu9514=) rs370604793 0.00012
NM_001267550.2(TTN):c.29313C>T (p.Cys9771=) rs375017037 0.00012
NM_001267550.2(TTN):c.48394C>T (p.Arg16132Cys) rs2303830 0.00012
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=) rs368021072 0.00012
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=) rs372543652 0.00012
NM_001267550.2(TTN):c.85651C>A (p.Pro28551Thr) rs142478636 0.00012
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) rs750112288 0.00012
NM_001378454.1(ALMS1):c.1977G>A (p.Thr659=) rs201316401 0.00012
NM_001492.6(GDF1):c.925T>C (p.Ser309Pro) rs864622513 0.00012
NM_002473.6(MYH9):c.504A>G (p.Gln168=) rs760974197 0.00012
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_003000.3(SDHB):c.403G>A (p.Val135Met) rs201585157 0.00012
NM_003042.4(SLC6A1):c.1191+8_1191+9insA rs761247510 0.00012
NM_003238.6(TGFB2):c.648G>A (p.Arg216=) rs767503001 0.00012
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637 0.00012
NM_004415.4(DSP):c.2037A>G (p.Ile679Met) rs151049942 0.00012
NM_004612.4(TGFBR1):c.470G>C (p.Arg157Pro) rs147146713 0.00012
NM_004937.3(CTNS):c.480C>T (p.Phe160=) rs147565118 0.00012
NM_005585.5(SMAD6):c.482C>T (p.Ala161Val) rs748622672 0.00012
NM_006231.4(POLE):c.4370G>T (p.Gly1457Val) rs776534749 0.00012
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) rs144731446 0.00012
NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu) rs80357024 0.00012
NM_015909.4(NBAS):c.1648G>T (p.Gly550Cys) rs571873632 0.00012
NM_016938.5(EFEMP2):c.1101C>T (p.Ser367=) rs112355691 0.00012
NM_020778.5(ALPK3):c.3735C>T (p.Gly1245=) rs760971774 0.00012
NM_020975.6(RET):c.398G>A (p.Arg133His) rs138265837 0.00012
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu) rs201332554 0.00012
NM_144997.7(FLCN):c.977C>T (p.Pro326Leu) rs138031155 0.00012
NM_000038.6(APC):c.3875C>T (p.Thr1292Met) rs371113837 0.00011
NM_000038.6(APC):c.7137C>G (p.Thr2379=) rs141454910 0.00011
NM_000051.4(ATM):c.2346A>G (p.Leu782=) rs730881285 0.00011
NM_000051.4(ATM):c.6147T>C (p.Tyr2049=) rs369940136 0.00011
NM_000051.4(ATM):c.8154C>T (p.Gly2718=) rs371021126 0.00011
NM_000053.4(ATP7B):c.1839C>T (p.Ile613=) rs370476756 0.00011
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=) rs370947152 0.00011
NM_000059.4(BRCA2):c.1272A>G (p.Ser424=) rs587780531 0.00011
NM_000059.4(BRCA2):c.3054G>A (p.Lys1018=) rs368404583 0.00011
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926 0.00011
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp) rs142045411 0.00011
NM_000093.5(COL5A1):c.4113C>T (p.Pro1371=) rs143794669 0.00011
NM_000096.4(CP):c.1493A>G (p.Gln498Arg) rs17847018 0.00011
NM_000098.3(CPT2):c.45G>T (p.Ala15=) rs761850684 0.00011
NM_000136.3(FANCC):c.1509G>A (p.Thr503=) rs144278080 0.00011
NM_000138.5(FBN1):c.1323A>G (p.Pro441=) rs202030761 0.00011
NM_000138.5(FBN1):c.1821T>C (p.Asp607=) rs149133920 0.00011
NM_000138.5(FBN1):c.2289C>T (p.Cys763=) rs181311020 0.00011
NM_000138.5(FBN1):c.3964+12C>T rs371986991 0.00011
NM_000138.5(FBN1):c.4214T>G (p.Leu1405Arg) rs767606368 0.00011
NM_000138.5(FBN1):c.7560G>A (p.Thr2520=) rs760425899 0.00011
NM_000169.3(GLA):c.48T>G (p.Leu16=) rs201449986 0.00011
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser) rs34014629 0.00011
NM_000238.4(KCNH2):c.2616C>T (p.Pro872=) rs374296728 0.00011
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00011
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu) rs35107951 0.00011
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala) rs548407418 0.00011
NM_000251.3(MSH2):c.198C>T (p.Tyr66=) rs730881784 0.00011
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val) rs2229061 0.00011
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter) rs551060742 0.00011
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=) rs374289523 0.00011
NM_000335.5(SCN5A):c.5130C>T (p.Ala1710=) rs377478501 0.00011
NM_000335.5(SCN5A):c.5181C>T (p.Cys1727=) rs193922726 0.00011
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr) rs376780156 0.00011
NM_000352.6(ABCC8):c.102G>A (p.Val34=) rs189746511 0.00011
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736 0.00011
NM_000455.5(STK11):c.1038C>T (p.Gly346=) rs767565606 0.00011
NM_000484.4(APP):c.225+14G>A rs199644062 0.00011
NM_000492.4(CFTR):c.738G>A (p.Lys246=) rs35033453 0.00011
NM_000520.6(HEXA):c.548T>A (p.Leu183His) rs185797496 0.00011
NM_000521.4(HEXB):c.978G>C (p.Leu326=) rs138261300 0.00011
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile) rs140731590 0.00011
NM_000535.7(PMS2):c.1248C>A (p.Ser416=) rs780709321 0.00011
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300 0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys) rs137854421 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_001042492.3(NF1):c.1005T>C (p.Asn335=) rs777369021 0.00011
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) rs35352891 0.00011
NM_001048174.2(MUTYH):c.132G>A (p.Pro44=) rs144551668 0.00011
NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=) rs143796254 0.00011
NM_001139.3(ALOX12B):c.56G>A (p.Arg19Gln) rs140795969 0.00011
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His) rs372716177 0.00011
NM_001267550.2(TTN):c.1449C>T (p.Ala483=) rs141617218 0.00011
NM_001267550.2(TTN):c.15775+14C>T rs151057960 0.00011
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788 0.00011
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp) rs397517500 0.00011
NM_001267550.2(TTN):c.50858-3C>T rs587782987 0.00011
NM_001267550.2(TTN):c.54078A>T (p.Ala18026=) rs747908048 0.00011
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=) rs373853269 0.00011
NM_001347702.2(SYNE1):c.1464T>G (p.Pro488=) rs770649913 0.00011
NM_001386393.1(PANK2):c.53G>A (p.Arg18Gln) rs546381069 0.00011
NM_001854.4(COL11A1):c.4935T>C (p.Gly1645=) rs369265343 0.00011
NM_002471.4(MYH6):c.2464G>A (p.Ala822Thr) rs138419275 0.00011
NM_002471.4(MYH6):c.2574C>T (p.Phe858=) rs148596692 0.00011
NM_002474.3(MYH11):c.3562C>T (p.Arg1188Trp) rs146388001 0.00011
NM_002474.3(MYH11):c.405G>A (p.Ser135=) rs375649016 0.00011
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00011
NM_002485.5(NBN):c.1914+10G>A rs577706448 0.00011
NM_002485.5(NBN):c.279G>A (p.Ser93=) rs587780781 0.00011
NM_002485.5(NBN):c.37+10G>C rs369408590 0.00011
NM_002693.3(POLG):c.1066C>T (p.Leu356=) rs371431444 0.00011
NM_002734.5(PRKAR1A):c.483A>G (p.Gly161=) rs141518491 0.00011
NM_004304.5(ALK):c.3139G>A (p.Ala1047Thr) rs370049091 0.00011
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val) rs138135866 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_004415.4(DSP):c.6799A>T (p.Thr2267Ser) rs181378432 0.00011
NM_004612.4(TGFBR1):c.973+19C>A rs183796807 0.00011
NM_005502.4(ABCA1):c.1716G>A (p.Gly572=) rs143299210 0.00011
NM_005908.4(MANBA):c.530A>G (p.His177Arg) rs750914797 0.00011
NM_006231.4(POLE):c.3763T>C (p.Leu1255=) rs745838504 0.00011
NM_006231.4(POLE):c.4603G>A (p.Gly1535Ser) rs138564205 0.00011
NM_006506.5(RASA2):c.1641T>C (p.Thr547=) rs148158856 0.00011
NM_006790.3(MYOT):c.533G>A (p.Arg178His) rs150293853 0.00011
NM_007294.4(BRCA1):c.1905T>C (p.Asn635=) rs369373293 0.00011
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr) rs70953661 0.00011
NM_007294.4(BRCA1):c.5278-20C>T rs193149108 0.00011
NM_007294.4(BRCA1):c.693G>A (p.Thr231=) rs62625298 0.00011
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn) rs55975699 0.00011
NM_007373.4(SHOC2):c.377C>T (p.Thr126Ile) rs138375593 0.00011
NM_014244.5(ADAMTS2):c.3018C>T (p.Asp1006=) rs150535792 0.00011
NM_015681.6(B9D1):c.479G>A (p.Arg160His) rs538949071 0.00011
NM_020778.5(ALPK3):c.5064G>A (p.Leu1688=) rs115813516 0.00011
NM_020975.6(RET):c.2601G>T (p.Glu867Asp) rs141459368 0.00011
NM_020975.6(RET):c.337+11C>T rs754967305 0.00011
NM_022437.3(ABCG8):c.546C>T (p.Ala182=) rs774395087 0.00011
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998 0.00011
NM_024675.4(PALB2):c.1455T>G (p.Thr485=) rs566105533 0.00011
NM_144670.6(A2ML1):c.2773G>A (p.Ala925Thr) rs201363860 0.00011
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767 0.00011
NM_000038.6(APC):c.4669A>G (p.Ile1557Val) rs763578917 0.00010
NM_000051.4(ATM):c.6382T>C (p.Leu2128=) rs753646931 0.00010
NM_000051.4(ATM):c.7494T>C (p.Ser2498=) rs34393781 0.00010
NM_000053.4(ATP7B):c.3054G>A (p.Ala1018=) rs193922105 0.00010
NM_000059.4(BRCA2):c.2488A>G (p.Asn830Asp) rs574039421 0.00010
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765 0.00010
NM_000059.4(BRCA2):c.7239A>G (p.Lys2413=) rs763727386 0.00010
NM_000059.4(BRCA2):c.8633-16C>G rs81002818 0.00010
NM_000071.3(CBS):c.1632C>T (p.Ala544=) rs566810122 0.00010
NM_000077.5(CDKN2A):c.261G>A (p.Arg87=) rs546300971 0.00010
NM_000093.5(COL5A1):c.1428C>T (p.Pro476=) rs745633063 0.00010
NM_000179.3(MSH6):c.1875C>T (p.Ser625=) rs63749886 0.00010
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr) rs63751225 0.00010
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) rs193922385 0.00010
NM_000264.5(PTCH1):c.324A>G (p.Ile108Met) rs144182921 0.00010
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=) rs368980118 0.00010
NM_000337.6(SGCD):c.793G>A (p.Val265Ile) rs772185467 0.00010
NM_000432.4(MYL2):c.274+9G>A rs371405579 0.00010
NM_000451.4(SHOX):c.698C>T (p.Ala233Val) rs750375727 0.00010
NM_000535.7(PMS2):c.2276-10A>G rs573900018 0.00010
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343 0.00010
NM_000552.5(VWF):c.1533+15G>A rs184217564 0.00010
NM_001048174.2(MUTYH):c.-6-7G>A rs780029247 0.00010
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu) rs139489232 0.00010
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys) rs369717556 0.00010
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu) rs63390262 0.00010
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val) rs397516608 0.00010
NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala) rs773532854 0.00010
NM_001267550.2(TTN):c.59736T>C (p.Tyr19912=) rs184969946 0.00010
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His) rs202240487 0.00010
NM_001267550.2(TTN):c.63960T>A (p.Val21320=) rs397517655 0.00010
NM_001267550.2(TTN):c.68165A>G (p.Asn22722Ser) rs200493270 0.00010
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) rs369503828 0.00010
NM_001267550.2(TTN):c.72302C>A (p.Thr24101Asn) rs192962624 0.00010
NM_001267550.2(TTN):c.76047T>C (p.Ile25349=) rs369320393 0.00010
NM_001267550.2(TTN):c.92595A>G (p.Leu30865=) rs192086736 0.00010
NM_001366110.1(PAX4):c.1024C>T (p.Pro342Ser) rs143084654 0.00010
NM_001943.5(DSG2):c.1597G>A (p.Val533Ile) rs199761749 0.00010
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545 0.00010
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=) rs145681607 0.00010
NM_002471.4(MYH6):c.1347G>T (p.Glu449Asp) rs142059069 0.00010
NM_002691.4(POLD1):c.102C>T (p.Phe34=) rs754716741 0.00010
NM_002880.4(RAF1):c.935T>C (p.Val312Ala) rs370243307 0.00010
NM_003239.5(TGFB3):c.873G>A (p.Pro291=) rs370006165 0.00010
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) rs151115778 0.00010
NM_004415.4(DSP):c.987G>A (p.Leu329=) rs564435126 0.00010
NM_005188.4(CBL):c.2312A>T (p.Asp771Val) rs199788586 0.00010
NM_005188.4(CBL):c.2542G>A (p.Ala848Thr) rs141710973 0.00010
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_005633.4(SOS1):c.2165G>A (p.Arg722Lys) rs142666652 0.00010
NM_005732.4(RAD50):c.2548C>T (p.Arg850Cys) rs181961360 0.00010
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala) rs550680554 0.00010
NM_014000.3(VCL):c.829C>A (p.Leu277Met) rs71579353 0.00010
NM_014491.4(FOXP2):c.1095-4T>G rs370836051 0.00010
NM_015559.3(SETBP1):c.987T>C (p.Pro329=) rs371212525 0.00010
NM_020366.4(RPGRIP1):c.2725A>G (p.Thr909Ala) rs759254680 0.00010
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn) rs150318400 0.00010
NM_024675.4(PALB2):c.11C>T (p.Pro4Leu) rs45619737 0.00010
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=) rs199848479 0.00010
NM_032520.5(GNPTG):c.887G>A (p.Arg296Gln) rs561640998 0.00010
NM_152594.3(SPRED1):c.177T>C (p.Phe59=) rs397517871 0.00010
NM_201384.3(PLEC):c.12597C>T (p.Ser4199=) rs368889216 0.00010
NM_000051.4(ATM):c.4167A>G (p.Thr1389=) rs183214437 0.00009
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_000053.4(ATP7B):c.2028C>T (p.Asn676=) rs764441090 0.00009
NM_000057.4(BLM):c.2739C>T (p.Leu913=) rs759223856 0.00009
NM_000059.4(BRCA2):c.*14C>T rs373436334 0.00009
NM_000059.4(BRCA2):c.4314C>T (p.Val1438=) rs730881590 0.00009
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945 0.00009
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491 0.00009
NM_000059.4(BRCA2):c.6475C>G (p.Gln2159Glu) rs398122558 0.00009
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val) rs74047012 0.00009
NM_000077.5(CDKN2A):c.87G>A (p.Arg29=) rs540871544 0.00009
NM_000081.4(LYST):c.281C>T (p.Thr94Ile) rs777389303 0.00009
NM_000090.4(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739 0.00009
NM_000138.5(FBN1):c.942A>G (p.Lys314=) rs376965275 0.00009
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672 0.00009
NM_000169.3(GLA):c.945C>T (p.Asp315=) rs151208856 0.00009
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser) rs587778531 0.00009
NM_000179.3(MSH6):c.3024C>T (p.Thr1008=) rs587780675 0.00009
NM_000179.3(MSH6):c.3439-10T>A rs730881819 0.00009
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00009
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_000238.4(KCNH2):c.2145+9A>T rs371749379 0.00009
NM_000243.3(MEFV):c.198C>T (p.Ala66=) rs149380763 0.00009
NM_000251.3(MSH2):c.2367C>T (p.Ala789=) rs786202414 0.00009
NM_000251.3(MSH2):c.2802G>A (p.Thr934=) rs150259097 0.00009
NM_000251.3(MSH2):c.317G>A (p.Arg106Lys) rs41295286 0.00009
NM_000251.3(MSH2):c.367-19A>T rs730881783 0.00009
NM_000305.3(PON2):c.287G>C (p.Arg96Thr) rs201552995 0.00009
NM_000305.3(PON2):c.677A>G (p.Asn226Ser) rs200897774 0.00009
NM_000314.6(PTEN):c.-920G>A rs786204937 0.00009
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr) rs148992508 0.00009
NM_000335.5(SCN5A):c.4449C>T (p.Asp1483=) rs369245812 0.00009
NM_000335.5(SCN5A):c.5451C>T (p.Ala1817=) rs370114378 0.00009
NM_000335.5(SCN5A):c.934+4C>T rs182050752 0.00009
NM_000397.4(CYBB):c.66C>T (p.Asn22=) rs193922450 0.00009
NM_000465.4(BARD1):c.1059C>G (p.Pro353=) rs368649242 0.00009
NM_000465.4(BARD1):c.1694G>A (p.Arg565His) rs146946984 0.00009
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=) rs146804928 0.00009
NM_000535.7(PMS2):c.1980C>T (p.Ala660=) rs368928783 0.00009
NM_000535.7(PMS2):c.993C>T (p.Cys331=) rs186577215 0.00009
NM_000552.5(VWF):c.6069G>A (p.Thr2023=) rs375810839 0.00009
NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser) rs373665895 0.00009
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala) rs776046135 0.00009
NM_001035.3(RYR2):c.639C>T (p.Ser213=) rs375180398 0.00009
NM_001035.3(RYR2):c.7511C>T (p.Thr2504Met) rs769219555 0.00009
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=) rs141077224 0.00009
NM_001048174.2(MUTYH):c.612C>T (p.Thr204=) rs780747266 0.00009
NM_001103.4(ACTN2):c.1292C>T (p.Ser431Leu) rs149846886 0.00009
NM_001110556.2(FLNA):c.4143-20C>T rs782633956 0.00009
NM_001110792.2(MECP2):c.756C>T (p.Thr252=) rs61749746 0.00009
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys) rs183936286 0.00009
NM_001148.6(ANK2):c.2060A>G (p.Asn687Ser) rs29372 0.00009
NM_001148.6(ANK2):c.6641C>T (p.Pro2214Leu) rs143469039 0.00009
NM_001267550.2(TTN):c.21642C>T (p.Asn7214=) rs752620885 0.00009
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=) rs556205722 0.00009
NM_001267550.2(TTN):c.27328+14C>T rs781624389 0.00009
NM_001267550.2(TTN):c.29325C>T (p.Asn9775=) rs377442695 0.00009
NM_001267550.2(TTN):c.31875A>C (p.Thr10625=) rs182934463 0.00009
NM_001267550.2(TTN):c.63333T>G (p.Ser21111=) rs780374544 0.00009
NM_001267550.2(TTN):c.83820C>T (p.Asn27940=) rs727503555 0.00009
NM_001360.3(DHCR7):c.1155C>T (p.Ala385=) rs777517985 0.00009
NM_001365999.1(SZT2):c.2037+14T>C rs183998762 0.00009
NM_001378454.1(ALMS1):c.5982G>A (p.Glu1994=) rs186849322 0.00009
NM_001927.4(DES):c.250G>A (p.Gly84Ser) rs200545412 0.00009
NM_001943.5(DSG2):c.147C>T (p.Arg49=) rs531036279 0.00009
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His) rs202050092 0.00009
NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln) rs201113098 0.00009
NM_002474.3(MYH11):c.3204C>T (p.His1068=) rs140143700 0.00009
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp) rs144421849 0.00009
NM_002485.5(NBN):c.426T>C (p.Asn142=) rs143070291 0.00009
NM_002691.4(POLD1):c.2565-9C>T rs370970182 0.00009
NM_002734.5(PRKAR1A):c.103A>G (p.Ile35Val) rs377513504 0.00009
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917 0.00009
NM_002878.4(RAD51D):c.864C>T (p.Gly288=) rs138557828 0.00009
NM_004006.3(DMD):c.7427A>G (p.Asn2476Ser) rs757394130 0.00009
NM_004100.5(EYA4):c.1161C>T (p.Leu387=) rs140472262 0.00009
NM_004281.4(BAG3):c.554C>T (p.Ser185Leu) rs730880054 0.00009
NM_004360.5(CDH1):c.1888C>G (p.Leu630Val) rs2276331 0.00009
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln) rs201736018 0.00009
NM_004415.4(DSP):c.5523A>C (p.Ser1841=) rs730882116 0.00009
NM_005188.4(CBL):c.2268C>T (p.Ala756=) rs142564074 0.00009
NM_005502.4(ABCA1):c.2811G>A (p.Ala937=) rs147290375 0.00009
NM_005751.5(AKAP9):c.6177A>G (p.Glu2059=) rs752723636 0.00009
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp) rs563231684 0.00009
NM_007078.3(LDB3):c.493C>T (p.Arg165Trp) rs45610637 0.00009
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His) rs200649225 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=) rs372017932 0.00009
NM_015046.7(SETX):c.4866G>A (p.Pro1622=) rs779472573 0.00009
NM_020297.4(ABCC9):c.4344T>C (p.Asn1448=) rs146782703 0.00009
NM_022114.4(PRDM16):c.1377G>A (p.Pro459=) rs776479768 0.00009
NM_022437.3(ABCG8):c.870C>T (p.Thr290=) rs117221284 0.00009
NM_022455.5(NSD1):c.1477C>G (p.Pro493Ala) rs375051877 0.00009
NM_024675.4(PALB2):c.12T>C (p.Pro4=) rs567706422 0.00009
NM_024675.4(PALB2):c.1431C>T (p.Thr477=) rs515726068 0.00009
NM_024675.4(PALB2):c.1623G>A (p.Arg541=) rs745665968 0.00009
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271 0.00009
NM_024675.4(PALB2):c.344G>T (p.Gly115Val) rs145598272 0.00009
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr) rs200283306 0.00009
NM_025137.4(SPG11):c.3320G>C (p.Cys1107Ser) rs201271196 0.00009
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys) rs587780247 0.00009
NM_144670.6(A2ML1):c.2677C>T (p.Arg893Ter) rs199651558 0.00009
NM_152594.3(SPRED1):c.1192G>A (p.Asp398Asn) rs771480941 0.00009
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys) rs367905430 0.00008
NM_000038.6(APC):c.721G>A (p.Glu241Lys) rs777603154 0.00008
NM_000059.4(BRCA2):c.2109C>T (p.Thr703=) rs762499878 0.00008
NM_000059.4(BRCA2):c.517-4C>G rs81002804 0.00008
NM_000138.5(FBN1):c.3429C>A (p.Gly1143=) rs151232024 0.00008
NM_000179.3(MSH6):c.1474A>G (p.Met492Val) rs61754783 0.00008
NM_000179.3(MSH6):c.3540A>C (p.Ser1180=) rs777096746 0.00008
NM_000218.3(KCNQ1):c.1323C>T (p.Pro441=) rs145452045 0.00008
NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu) rs63751684 0.00008
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln) rs146567853 0.00008
NM_000251.3(MSH2):c.1488A>G (p.Leu496=) rs267607960 0.00008
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr) rs63751454 0.00008
NM_000282.4(PCCA):c.490A>G (p.Ile164Val) rs539693612 0.00008
NM_000335.5(SCN5A):c.873C>T (p.Asn291=) rs376515775 0.00008
NM_000384.3(APOB):c.10509G>A (p.Ser3503=) rs769351301 0.00008
NM_000384.3(APOB):c.13288T>A (p.Ser4430Thr) rs72654426 0.00008
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser) rs587781976 0.00008
NM_000465.4(BARD1):c.687T>C (p.Phe229=) rs756803590 0.00008
NM_000489.6(ATRX):c.1798A>G (p.Ile600Val) rs375129029 0.00008
NM_000527.5(LDLR):c.2358C>T (p.Ser786=) rs183255090 0.00008
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00008
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748 0.00008
NM_000535.7(PMS2):c.735G>T (p.Leu245=) rs373366661 0.00008
NM_001005242.3(PKP2):c.1379-2038T>C rs781397552 0.00008
NM_001005242.3(PKP2):c.888C>T (p.His296=) rs397517029 0.00008
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile) rs185715460 0.00008
NM_001035.3(RYR2):c.4735G>A (p.Val1579Met) rs763389778 0.00008
NM_001042492.3(NF1):c.6171A>T (p.Ile2057=) rs140733963 0.00008
NM_001142800.2(EYS):c.8860T>C (p.Phe2954Leu) rs79036642 0.00008
NM_001165963.4(SCN1A):c.2649C>T (p.Ile883=) rs543436497 0.00008
NM_001267550.2(TTN):c.25637A>G (p.Gln8546Arg) rs548471822 0.00008
NM_001267550.2(TTN):c.50551+9T>C rs370798229 0.00008
NM_001267550.2(TTN):c.60976G>A (p.Ala20326Thr) rs370995867 0.00008
NM_001376.5(DYNC1H1):c.7015-14T>C rs753878203 0.00008
NM_001378454.1(ALMS1):c.7140A>G (p.Gln2380=) rs375593700 0.00008
NM_001927.4(DES):c.216C>A (p.Ser72Arg) rs375719734 0.00008
NM_002230.4(JUP):c.475G>T (p.Val159Leu) rs782702266 0.00008
NM_002471.4(MYH6):c.3867G>T (p.Leu1289Phe) rs138127105 0.00008
NM_002474.3(MYH11):c.1344T>C (p.His448=) rs549593465 0.00008
NM_002691.4(POLD1):c.1686+10C>T rs372652150 0.00008
NM_002691.4(POLD1):c.2317G>A (p.Ala773Thr) rs753865441 0.00008
NM_002691.4(POLD1):c.3156G>A (p.Ser1052=) rs373910727 0.00008
NM_003235.5(TG):c.4797C>T (p.Pro1599=) rs369301609 0.00008
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp) rs387906874 0.00008
NM_004360.5(CDH1):c.164T>G (p.Val55Gly) rs587778174 0.00008
NM_004360.5(CDH1):c.387+5G>A rs113055163 0.00008
NM_005188.4(CBL):c.2349C>T (p.Ala783=) rs552509693 0.00008
NM_005188.4(CBL):c.2569C>T (p.Leu857Phe) rs201631570 0.00008
NM_005359.6(SMAD4):c.852A>G (p.Gln284=) rs144378484 0.00008
NM_005502.4(ABCA1):c.2910C>T (p.Thr970=) rs142992384 0.00008
NM_006361.6(HOXB13):c.832G>T (p.Val278Leu) rs200997384 0.00008
NM_006939.4(SOS2):c.2120A>G (p.Glu707Gly) rs369462490 0.00008
NM_007103.4(NDUFV1):c.156G>T (p.Arg52Ser) rs199609729 0.00008
NM_007294.4(BRCA1):c.987T>C (p.Asn329=) rs774849810 0.00008
NM_014336.5(AIPL1):c.403G>A (p.Glu135Lys) rs187653323 0.00008
NM_016363.5(GP6):c.*599G>A rs368531531 0.00008
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911 0.00008
NM_021098.3(CACNA1H):c.5346C>T (p.Cys1782=) rs375518094 0.00008
NM_022089.4(ATP13A2):c.1079G>A (p.Gly360Glu) rs566918264 0.00008
NM_022089.4(ATP13A2):c.2236G>A (p.Ala746Thr) rs147277743 0.00008
NM_022437.3(ABCG8):c.1650G>A (p.Ala550=) rs145754381 0.00008
NM_024334.3(TMEM43):c.286C>G (p.Arg96Gly) rs754797146 0.00008
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met) rs544554435 0.00008
NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr) rs146218439 0.00008
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys) rs587778587 0.00008
NM_030662.4(MAP2K2):c.399C>T (p.Phe133=) rs145524962 0.00008
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn) rs150369301 0.00008
NM_053025.4(MYLK):c.1689C>T (p.Ala563=) rs760193913 0.00008
NM_053025.4(MYLK):c.2598C>T (p.Gly866=) rs144654396 0.00008
NM_053025.4(MYLK):c.3696G>A (p.Pro1232=) rs769086535 0.00008
NM_139276.3(STAT3):c.1519G>T (p.Val507Phe) rs145786768 0.00008
NM_144670.6(A2ML1):c.2328C>T (p.Phe776=) rs368663740 0.00008
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile) rs147474792 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_182925.5(FLT4):c.475C>G (p.Leu159Val) rs147634448 0.00008
NM_000038.6(APC):c.4533C>T (p.Leu1511=) rs150089434 0.00007
NM_000038.6(APC):c.7717A>G (p.Ile2573Val) rs145444830 0.00007
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751 0.00007
NM_000051.4(ATM):c.125A>G (p.His42Arg) rs201773026 0.00007
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=) rs148607710 0.00007
NM_000059.4(BRCA2):c.4791T>C (p.Ser1597=) rs786201728 0.00007
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912 0.00007
NM_000059.4(BRCA2):c.841G>A (p.Asp281Asn) rs80359088 0.00007
NM_000059.4(BRCA2):c.8953+16C>T rs81002892 0.00007
NM_000059.4(BRCA2):c.9949C>T (p.Leu3317=) rs777488349 0.00007
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu) rs201617914 0.00007
NM_000093.5(COL5A1):c.4658C>T (p.Pro1553Leu) rs530570306 0.00007
NM_000138.5(FBN1):c.2678-3C>T rs747274959 0.00007
NM_000138.5(FBN1):c.2746G>A (p.Val916Met) rs373644734 0.00007
NM_000138.5(FBN1):c.2772C>T (p.Gly924=) rs539699143 0.00007
NM_000152.5(GAA):c.2157G>A (p.Ala719=) rs201523530 0.00007
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787 0.00007
NM_000238.4(KCNH2):c.2376C>T (p.Gly792=) rs745993706 0.00007
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu) rs370529693 0.00007
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala) rs202038499 0.00007
NM_000249.4(MLH1):c.1908G>A (p.Leu636=) rs1800145 0.00007
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly) rs41295282 0.00007
NM_000249.4(MLH1):c.42A>C (p.Thr14=) rs369737664 0.00007
NM_000249.4(MLH1):c.589-8T>C rs1017112753 0.00007
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) rs267607939 0.00007
NM_000251.3(MSH2):c.1560A>G (p.Gly520=) rs63750820 0.00007
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg) rs41295182 0.00007
NM_000251.3(MSH2):c.642A>G (p.Arg214=) rs768931909 0.00007
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) rs141482368 0.00007
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112 0.00007
NM_000489.6(ATRX):c.3158C>A (p.Thr1053Asn) rs151273832 0.00007
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_000527.5(LDLR):c.267C>T (p.Cys89=) rs777640882 0.00007
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
NM_000719.7(CACNA1C):c.135C>G (p.Thr45=) rs749123185 0.00007
NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val) rs374991642 0.00007
NM_001042492.3(NF1):c.3636C>A (p.Val1212=) rs145126193 0.00007
NM_001042492.3(NF1):c.4803T>C (p.Ala1601=) rs148662566 0.00007
NM_001048174.2(MUTYH):c.492+8G>C rs190500741 0.00007
NM_001103.4(ACTN2):c.331G>A (p.Gly111Arg) rs148628141 0.00007
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617 0.00007
NM_001148.6(ANK2):c.10322G>A (p.Arg3441Gln) rs772954896 0.00007
NM_001148.6(ANK2):c.3931G>A (p.Val1311Ile) rs34065266 0.00007
NM_001148.6(ANK2):c.4016C>T (p.Pro1339Leu) rs371357815 0.00007
NM_001250.6(CD40):c.381C>T (p.Pro127=) rs763263083 0.00007
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=) rs374228930 0.00007
NM_001267550.2(TTN):c.54105G>A (p.Ala18035=) rs371155050 0.00007
NM_001267550.2(TTN):c.64059T>C (p.Asp21353=) rs377184630 0.00007
NM_001267550.2(TTN):c.70042G>A (p.Ala23348Thr) rs775146212 0.00007
NM_001378454.1(ALMS1):c.6615A>T (p.Leu2205=) rs375011895 0.00007
NM_001378454.1(ALMS1):c.6840T>G (p.Pro2280=) rs45580837 0.00007
NM_001711.6(BGN):c.231C>T (p.Ser77=) rs141785227 0.00007
NM_001715.3(BLK):c.859G>A (p.Val287Met) rs1042687 0.00007
NM_001851.6(COL9A1):c.88+19A>C rs188749185 0.00007
NM_001943.5(DSG2):c.3195T>C (p.Thr1065=) rs544981484 0.00007
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala) rs191300661 0.00007
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr) rs138863103 0.00007
NM_002734.5(PRKAR1A):c.974-10C>T rs774715675 0.00007
NM_003098.3(SNTA1):c.1442C>T (p.Ser481Leu) rs370531842 0.00007
NM_004281.4(BAG3):c.827G>A (p.Arg276Gln) rs372970842 0.00007
NM_004329.3(BMPR1A):c.499A>G (p.Met167Val) rs200951235 0.00007
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn) rs199886166 0.00007
NM_004415.4(DSP):c.1044+12G>A rs775969969 0.00007
NM_004415.4(DSP):c.7563T>C (p.Asp2521=) rs984412074 0.00007
NM_005502.4(ABCA1):c.3432C>T (p.Asn1144=) rs559256396 0.00007
NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr) rs776146535 0.00007
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu) rs730881034 0.00007
NM_005732.4(RAD50):c.1911T>A (p.Asp637Glu) rs144749616 0.00007
NM_005751.5(AKAP9):c.5284A>G (p.Lys1762Glu) rs568626378 0.00007
NM_006231.4(POLE):c.2172G>A (p.Ala724=) rs372240734 0.00007
NM_006506.5(RASA2):c.156A>G (p.Pro52=) rs143703190 0.00007
NM_006767.4(LZTR1):c.2499C>T (p.Cys833=) rs746037698 0.00007
NM_007294.4(BRCA1):c.3783A>G (p.Leu1261=) rs80356831 0.00007
NM_007294.4(BRCA1):c.593+3G>A rs80358013 0.00007
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_017617.5(NOTCH1):c.5682C>T (p.Gly1894=) rs541372272 0.00007
NM_020778.5(ALPK3):c.182+9A>G rs200942386 0.00007
NM_024675.4(PALB2):c.2100A>T (p.Ser700=) rs757145884 0.00007
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00007
NM_030777.4(SLC2A10):c.1559G>A (p.Ser520Asn) rs573480396 0.00007
NM_030777.4(SLC2A10):c.792T>C (p.His264=) rs377031320 0.00007
NM_032043.3(BRIP1):c.3336T>C (p.Asp1112=) rs369843642 0.00007
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr) rs147840022 0.00007
NM_053025.4(MYLK):c.4332G>A (p.Glu1444=) rs139884214 0.00007
NM_133378.4(TTN):c.28030+5G>A rs145387989 0.00007
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=) rs142855690 0.00007
NM_170707.4(LMNA):c.811-18C>G rs766309567 0.00007
NM_181507.2(HPS5):c.1357C>T (p.Arg453Cys) rs200704721 0.00007
NM_000038.6(APC):c.1139G>A (p.Arg380Gln) rs587782886 0.00006
NM_000038.6(APC):c.2110G>A (p.Val704Ile) rs367804502 0.00006
NM_000038.6(APC):c.2148A>G (p.Lys716=) rs764733890 0.00006
NM_000038.6(APC):c.3632T>G (p.Met1211Arg) rs575268622 0.00006
NM_000038.6(APC):c.4072G>A (p.Ala1358Thr) rs139618756 0.00006
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998 0.00006
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn) rs148275069 0.00006
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00006
NM_000038.6(APC):c.7574G>A (p.Arg2525His) rs762034315 0.00006
NM_000038.6(APC):c.7888G>A (p.Val2630Ile) rs199688874 0.00006
NM_000038.6(APC):c.789T>A (p.Gly263=) rs767053295 0.00006
NM_000038.6(APC):c.8107A>G (p.Lys2703Glu) rs730881270 0.00006
NM_000051.4(ATM):c.3588A>G (p.Lys1196=) rs376524625 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000051.4(ATM):c.6486C>T (p.Ser2162=) rs138166710 0.00006
NM_000051.4(ATM):c.7062G>A (p.Ala2354=) rs143489373 0.00006
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=) rs546721020 0.00006
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473 0.00006
NM_000059.4(BRCA2):c.2025A>G (p.Thr675=) rs147381487 0.00006
NM_000059.4(BRCA2):c.2490C>T (p.Asn830=) rs56331088 0.00006
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser) rs28897718 0.00006
NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu) rs80358550 0.00006
NM_000059.4(BRCA2):c.3715A>G (p.Lys1239Glu) rs374191973 0.00006
NM_000059.4(BRCA2):c.4578A>G (p.Thr1526=) rs202022822 0.00006
NM_000059.4(BRCA2):c.4915G>A (p.Val1639Ile) rs80358716 0.00006
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940 0.00006
NM_000059.4(BRCA2):c.7050C>T (p.Thr2350=) rs587780870 0.00006
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000059.4(BRCA2):c.8662C>T (p.Arg2888Cys) rs80359123 0.00006
NM_000059.4(BRCA2):c.9454G>A (p.Glu3152Lys) rs80359218 0.00006
NM_000059.4(BRCA2):c.9502-17T>C rs752544229 0.00006
NM_000071.3(CBS):c.1413G>C (p.Gly471=) rs777859460 0.00006
NM_000090.4(COL3A1):c.2913T>G (p.Pro971=) rs367872728 0.00006
NM_000090.4(COL3A1):c.546C>T (p.Pro182=) rs754584062 0.00006
NM_000091.5(COL4A3):c.513C>T (p.Gly171=) rs199514043 0.00006
NM_000117.3(EMD):c.188-12C>T rs371016049 0.00006
NM_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063 0.00006
NM_000138.5(FBN1):c.273T>C (p.Asp91=) rs375450755 0.00006
NM_000138.5(FBN1):c.2793G>T (p.Gly931=) rs775785545 0.00006
NM_000138.5(FBN1):c.2835C>T (p.Ala945=) rs140389544 0.00006
NM_000138.5(FBN1):c.3464-6C>T rs375596551 0.00006
NM_000138.5(FBN1):c.4875C>G (p.Thr1625=) rs140628 0.00006
NM_000138.5(FBN1):c.6164-3C>T rs571365493 0.00006
NM_000138.5(FBN1):c.6302C>T (p.Thr2101Met) rs200816828 0.00006
NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile) rs193922244 0.00006
NM_000155.4(GALT):c.1128A>T (p.Ala376=) rs781374930 0.00006
NM_000174.5(GP9):c.195C>T (p.Ser65=) rs754789523 0.00006
NM_000179.3(MSH6):c.1050C>T (p.Ala350=) rs730881802 0.00006
NM_000179.3(MSH6):c.178T>C (p.Leu60=) rs35819209 0.00006
NM_000179.3(MSH6):c.2964C>A (p.Arg988=) rs144288981 0.00006
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys) rs376243329 0.00006
NM_000179.3(MSH6):c.926C>G (p.Ser309Cys) rs544222338 0.00006
NM_000237.3(LPL):c.111C>T (p.Ile37=) rs374067507 0.00006
NM_000238.4(KCNH2):c.1683G>A (p.Ala561=) rs140366118 0.00006
NM_000238.4(KCNH2):c.1839G>A (p.Thr613=) rs146309583 0.00006
NM_000238.4(KCNH2):c.2932G>A (p.Glu978Lys) rs141117135 0.00006
NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met) rs199473544 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_000243.3(MEFV):c.657C>T (p.Gly219=) rs104895182 0.00006
NM_000249.4(MLH1):c.1104G>A (p.Ser368=) rs769364808 0.00006
NM_000249.4(MLH1):c.552A>T (p.Ser184=) rs35225190 0.00006
NM_000249.4(MLH1):c.69A>G (p.Glu23=) rs63750555 0.00006
NM_000249.4(MLH1):c.954C>T (p.His318=) rs146777069 0.00006
NM_000251.3(MSH2):c.2271C>T (p.Tyr757=) rs56076152 0.00006
NM_000251.3(MSH2):c.2400A>G (p.Leu800=) rs201298777 0.00006
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00006
NM_000251.3(MSH2):c.944G>T (p.Gly315Val) rs202026056 0.00006
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu) rs367729718 0.00006
NM_000256.3(MYBPC3):c.94G>A (p.Glu32Lys) rs730880575 0.00006
NM_000305.3(PON2):c.885G>A (p.Pro295=) rs778196758 0.00006
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=) rs200868190 0.00006
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His) rs199473592 0.00006
NM_000359.3(TGM1):c.550C>T (p.Pro184Ser) rs200517023 0.00006
NM_000426.4(LAMA2):c.4157A>T (p.Tyr1386Phe) rs560139751 0.00006
NM_000451.4(SHOX):c.547G>A (p.Val183Ile) rs752189039 0.00006
NM_000455.5(STK11):c.992G>A (p.Arg331Gln) rs371264852 0.00006
NM_000458.4(HNF1B):c.1339+17G>A rs374854968 0.00006
NM_000465.4(BARD1):c.1586G>A (p.Arg529Gln) rs753479021 0.00006
NM_000465.4(BARD1):c.1973G>A (p.Arg658His) rs377227840 0.00006
NM_000492.4(CFTR):c.2769C>T (p.Ala923=) rs1800108 0.00006
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=) rs375845215 0.00006
NM_000492.4(CFTR):c.3783G>T (p.Leu1261=) rs771812900 0.00006
NM_000492.4(CFTR):c.3964-16T>C rs199672530 0.00006
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=) rs761669740 0.00006
NM_000492.4(CFTR):c.663G>A (p.Ala221=) rs758147990 0.00006
NM_000527.5(LDLR):c.108C>T (p.Asp36=) rs373144619 0.00006
NM_000527.5(LDLR):c.1428C>T (p.Pro476=) rs543392107 0.00006
NM_000527.5(LDLR):c.147C>T (p.Ser49=) rs138078086 0.00006
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253 0.00006
NM_000535.7(PMS2):c.1128A>C (p.Pro376=) rs367774545 0.00006
NM_000535.7(PMS2):c.1145-10G>A rs533551639 0.00006
NM_000535.7(PMS2):c.1500C>T (p.Ser500=) rs116094787 0.00006
NM_000545.8(HNF1A):c.1729C>G (p.His577Asp) rs376832928 0.00006
NM_000546.6(TP53):c.1015G>A (p.Glu339Lys) rs17882252 0.00006
NM_000546.6(TP53):c.618G>A (p.Leu206=) rs142813240 0.00006
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944 0.00006
NM_001005242.3(PKP2):c.1230C>T (p.Asp410=) rs148364390 0.00006
NM_001005242.3(PKP2):c.900G>A (p.Thr300=) rs140235564 0.00006
NM_001018005.2(TPM1):c.493-18T>G rs377726678 0.00006
NM_001035.3(RYR2):c.1511G>A (p.Arg504His) rs201600087 0.00006
NM_001035.3(RYR2):c.1962-12G>A rs368241264 0.00006
NM_001037.5(SCN1B):c.448+334G>A rs766204907 0.00006
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile) rs377393842 0.00006
NM_001048174.2(MUTYH):c.729C>T (p.Asp243=) rs730881838 0.00006
NM_001048174.2(MUTYH):c.897T>C (p.Pro299=) rs149334084 0.00006
NM_001101362.3(KBTBD13):c.876G>A (p.Pro292=) rs543905658 0.00006
NM_001103.4(ACTN2):c.744C>T (p.Tyr248=) rs749565466 0.00006
NM_001105206.3(LAMA4):c.5393T>C (p.Ile1798Thr) rs377204776 0.00006
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr) rs201666606 0.00006
NM_001134363.3(RBM20):c.348C>T (p.Ala116=) rs569709951 0.00006
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_001148.6(ANK2):c.8324A>G (p.His2775Arg) rs534934297 0.00006
NM_001164508.2(NEB):c.5301G>A (p.Pro1767=) rs150496369 0.00006
NM_001232.4(CASQ2):c.270C>A (p.Gly90=) rs72554056 0.00006
NM_001267550.2(TTN):c.102540T>C (p.Ser34180=) rs368844570 0.00006
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln) rs149391616 0.00006
NM_001267550.2(TTN):c.27631T>C (p.Leu9211=) rs563954136 0.00006
NM_001267550.2(TTN):c.39090G>A (p.Ala13030=) rs375519815 0.00006
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His) rs72677245 0.00006
NM_001267550.2(TTN):c.54947C>G (p.Thr18316Ser) rs758527900 0.00006
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630 0.00006
NM_001267550.2(TTN):c.62844T>G (p.Pro20948=) rs770335539 0.00006
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met) rs201284459 0.00006
NM_001267550.2(TTN):c.6950G>A (p.Arg2317His) rs764882950 0.00006
NM_001267550.2(TTN):c.75034C>T (p.Arg25012Trp) rs368914555 0.00006
NM_001267550.2(TTN):c.76699G>T (p.Val25567Phe) rs3813244 0.00006
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906 0.00006
NM_001267550.2(TTN):c.86700C>T (p.Asn28900=) rs727504793 0.00006
NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=) rs561739832 0.00006
NM_001267550.2(TTN):c.94016C>T (p.Thr31339Ile) rs184078016 0.00006
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro) rs184922462 0.00006
NM_001267550.2(TTN):c.98544C>G (p.Ser32848=) rs756591209 0.00006
NM_001276345.2(TNNT2):c.295-14C>T rs747477576 0.00006
NM_001330.5(CTF1):c.55C>A (p.Leu19Ile) rs544073469 0.00006
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val) rs199822303 0.00006
NM_001369268.1(ACAN):c.1429+15G>A rs762554069 0.00006
NM_001378454.1(ALMS1):c.9495C>T (p.Phe3165=) rs45607436 0.00006
NM_001382567.1(STIM1):c.1906C>G (p.Pro636Ala) rs139432975 0.00006
NM_001458.5(FLNC):c.5944C>T (p.Arg1982Cys) rs538779271 0.00006
NM_001458.5(FLNC):c.651C>T (p.Asn217=) rs370425863 0.00006
NM_001852.4(COL9A2):c.1871-8G>T rs372902486 0.00006
NM_001927.4(DES):c.1024-7C>G rs779098835 0.00006
NM_001943.5(DSG2):c.1089G>A (p.Ser363=) rs372598337 0.00006
NM_001943.5(DSG2):c.1491C>T (p.Pro497=) rs587780928 0.00006
NM_001943.5(DSG2):c.1643G>A (p.Arg548His) rs551034751 0.00006
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val) rs375527314 0.00006
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met) rs373994051 0.00006
NM_002230.4(JUP):c.1912A>C (p.Asn638His) rs782658008 0.00006
NM_002230.4(JUP):c.568G>A (p.Val190Met) rs370143312 0.00006
NM_002471.4(MYH6):c.1702C>T (p.Arg568Cys) rs149650190 0.00006
NM_002474.3(MYH11):c.1913C>T (p.Ser638Leu) rs771128441 0.00006
NM_002485.5(NBN):c.930T>A (p.Ile310=) rs142813526 0.00006
NM_002691.4(POLD1):c.17G>A (p.Arg6Gln) rs778275831 0.00006
NM_002691.4(POLD1):c.2326C>T (p.Arg776Trp) rs780138978 0.00006
NM_002691.4(POLD1):c.511G>T (p.Ala171Ser) rs748486492 0.00006
NM_002709.3(PPP1CB):c.968C>T (p.Pro323Leu) rs202171795 0.00006
NM_002755.4(MAP2K1):c.264G>A (p.Lys88=) rs7494832 0.00006
NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu) rs201550522 0.00006
NM_002769.5(PRSS1):c.674A>G (p.Lys225Arg) rs541223359 0.00006
NM_002834.5(PTPN11):c.132C>T (p.Ser44=) rs397507502 0.00006
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214 0.00006
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_002878.4(RAD51D):c.145-4G>A rs201361465 0.00006
NM_002878.4(RAD51D):c.957G>A (p.Gln319=) rs147669627 0.00006
NM_003664.5(AP3B1):c.3197C>T (p.Ser1066Phe) rs764100439 0.00006
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_004333.6(BRAF):c.1433-5T>C rs587780861 0.00006
NM_004360.5(CDH1):c.2136G>T (p.Gly712=) rs763402728 0.00006
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn) rs35606263 0.00006
NM_004415.4(DSP):c.1155G>A (p.Ala385=) rs140488069 0.00006
NM_004415.4(DSP):c.2630+19G>A rs139830549 0.00006
NM_004612.4(TGFBR1):c.1141C>T (p.Pro381Ser) rs760555508 0.00006
NM_004655.4(AXIN2):c.2478G>T (p.Thr826=) rs148159432 0.00006
NM_004655.4(AXIN2):c.623C>T (p.Ala208Val) rs201531372 0.00006
NM_004977.3(KCNC3):c.1773C>T (p.Ser591=) rs1005301925 0.00006
NM_005188.4(CBL):c.2216C>T (p.Ser739Phe) rs2227986 0.00006
NM_005343.4(HRAS):c.42G>A (p.Val14=) rs777038147 0.00006
NM_005359.6(SMAD4):c.606C>G (p.Ala202=) rs780665234 0.00006
NM_005633.4(SOS1):c.1018C>T (p.Pro340Ser) rs190222208 0.00006
NM_005633.4(SOS1):c.2225T>C (p.Ile742Thr) rs767494615 0.00006
NM_005732.4(RAD50):c.130-10A>G rs200760698 0.00006
NM_005732.4(RAD50):c.1663A>G (p.Ile555Val) rs201120953 0.00006
NM_005732.4(RAD50):c.2173C>T (p.Arg725Trp) rs369560280 0.00006
NM_005732.4(RAD50):c.610A>G (p.Lys204Glu) rs202197835 0.00006
NM_005751.5(AKAP9):c.3350G>A (p.Arg1117His) rs546600149 0.00006
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr) rs140566004 0.00006
NM_006231.4(POLE):c.6810C>T (p.Leu2270=) rs757092767 0.00006
NM_006506.5(RASA2):c.1942G>A (p.Ala648Thr) rs769395361 0.00006
NM_006506.5(RASA2):c.519T>C (p.Leu173=) rs956512674 0.00006
NM_006939.4(SOS2):c.2605G>A (p.Val869Ile) rs373143128 0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701 0.00006
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile) rs587782770 0.00006
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=) rs372002119 0.00006
NM_007294.4(BRCA1):c.1724A>G (p.Glu575Gly) rs111539978 0.00006
NM_007294.4(BRCA1):c.4213A>G (p.Ile1405Val) rs80357353 0.00006
NM_007294.4(BRCA1):c.795T>C (p.Ser265=) rs201441987 0.00006
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly) rs55874646 0.00006
NM_007373.4(SHOC2):c.1239G>T (p.Gln413His) rs200215822 0.00006
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val) rs200015085 0.00006
NM_013975.4(LIG3):c.1028G>A (p.Arg343Gln) rs370882864 0.00006
NM_013975.4(LIG3):c.452G>A (p.Arg151Gln) rs537076655 0.00006
NM_014000.3(VCL):c.2468G>A (p.Arg823Gln) rs759202535 0.00006
NM_014251.3(SLC25A13):c.790G>A (p.Val264Ile) rs531991442 0.00006
NM_015627.3(LDLRAP1):c.114G>C (p.Thr38=) rs138908999 0.00006
NM_015627.3(LDLRAP1):c.861C>T (p.Leu287=) rs767867837 0.00006
NM_016203.4(PRKAG2):c.182G>A (p.Arg61Gln) rs564358410 0.00006
NM_020631.6(PLEKHG5):c.768C>T (p.Ser256=) rs780935962 0.00006
NM_022114.4(PRDM16):c.2295C>T (p.Gly765=) rs376224745 0.00006
NM_022124.6(CDH23):c.4773G>A (p.Pro1591=) rs376037961 0.00006
NM_024422.6(DSC2):c.1638T>C (p.Asn546=) rs145987522 0.00006
NM_024422.6(DSC2):c.2103G>A (p.Leu701=) rs141726394 0.00006
NM_024422.6(DSC2):c.2139G>A (p.Thr713=) rs112532429 0.00006
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434 0.00006
NM_024675.4(PALB2):c.3297G>A (p.Thr1099=) rs45565738 0.00006
NM_024675.4(PALB2):c.765T>C (p.Asp255=) rs45465299 0.00006
NM_024675.4(PALB2):c.768C>T (p.Ser256=) rs45487491 0.00006
NM_030662.4(MAP2K2):c.1112G>A (p.Arg371Gln) rs730880514 0.00006
NM_030777.4(SLC2A10):c.1401C>T (p.Leu467=) rs774586341 0.00006
NM_032040.5(CCDC8):c.67G>A (p.Val23Ile) rs771970620 0.00006
NM_032043.3(BRIP1):c.1053A>G (p.Pro351=) rs544977115 0.00006
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu) rs759031349 0.00006
NM_032383.5(HPS3):c.713-17C>A rs143594510 0.00006
NM_033118.4(MYLK2):c.1204G>T (p.Val402Phe) rs779637525 0.00006
NM_033118.4(MYLK2):c.425G>T (p.Gly142Val) rs56385445 0.00006
NM_053025.4(MYLK):c.1167G>A (p.Leu389=) rs377631029 0.00006
NM_053025.4(MYLK):c.1752A>G (p.Leu584=) rs775877814 0.00006
NM_053025.4(MYLK):c.1954C>G (p.Pro652Ala) rs750686734 0.00006
NM_053025.4(MYLK):c.3210C>T (p.Asp1070=) rs200758888 0.00006
NM_053025.4(MYLK):c.774-15C>G rs371552521 0.00006
NM_058216.3(RAD51C):c.336G>A (p.Gly112=) rs746122031 0.00006
NM_058216.3(RAD51C):c.351A>G (p.Leu117=) rs370986989 0.00006
NM_058216.3(RAD51C):c.967T>C (p.Leu323=) rs747727600 0.00006
NM_139076.3(ABRAXAS1):c.1214G>C (p.Arg405Pro) rs200281698 0.00006
NM_139276.3(STAT3):c.2091T>A (p.Ala697=) rs200529713 0.00006
NM_144670.6(A2ML1):c.1284G>A (p.Pro428=) rs753945399 0.00006
NM_144670.6(A2ML1):c.1746G>A (p.Gln582=) rs767420128 0.00006
NM_144670.6(A2ML1):c.2441A>G (p.Asn814Ser) rs760788803 0.00006
NM_144670.6(A2ML1):c.418C>T (p.Arg140Cys) rs199919065 0.00006
NM_144670.6(A2ML1):c.973G>A (p.Val325Met) rs749156731 0.00006
NM_174936.4(PCSK9):c.1727C>T (p.Pro576Leu) rs72646525 0.00006
NM_175914.5(HNF4A):c.353G>A (p.Arg118Gln) rs764196059 0.00006
NM_175914.5(HNF4A):c.381G>A (p.Leu127=) rs193922473 0.00006
NM_175914.5(HNF4A):c.840G>A (p.Leu280=) rs181559088 0.00006
NM_178138.6(LHX3):c.251+9C>T rs569254423 0.00006
NM_201596.3(CACNB2):c.1206+3A>T rs200174877 0.00006
NM_000033.4(ABCD1):c.55G>T (p.Ala19Ser) rs965462099 0.00005
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys) rs201185479 0.00005
NM_000038.6(APC):c.7986G>A (p.Glu2662=) rs571645304 0.00005
NM_000051.4(ATM):c.2220A>G (p.Ala740=) rs56353517 0.00005
NM_000051.4(ATM):c.2967T>C (p.Thr989=) rs144145128 0.00005
NM_000051.4(ATM):c.4109+6T>C rs368606937 0.00005
NM_000051.4(ATM):c.4665C>T (p.Leu1555=) rs374431061 0.00005
NM_000051.4(ATM):c.7983T>C (p.Asp2661=) rs143972422 0.00005
NM_000053.4(ATP7B):c.1050G>A (p.Pro350=) rs372191499 0.00005
NM_000059.4(BRCA2):c.1749G>A (p.Leu583=) rs780324598 0.00005
NM_000059.4(BRCA2):c.3771A>G (p.Pro1257=) rs759855937 0.00005
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=) rs199879914 0.00005
NM_000059.4(BRCA2):c.5985C>T (p.Asn1995=) rs374620036 0.00005
NM_000059.4(BRCA2):c.7007+18T>A rs377471435 0.00005
NM_000059.4(BRCA2):c.750G>A (p.Val250=) rs143214959 0.00005
NM_000059.4(BRCA2):c.796T>C (p.Phe266Leu) rs587782433 0.00005
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052 0.00005
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His) rs80359105 0.00005
NM_000059.4(BRCA2):c.9087G>A (p.Ala3029=) rs368576266 0.00005
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195 0.00005
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229 0.00005
NM_000059.4(BRCA2):c.9738C>T (p.Ala3246=) rs80359811 0.00005
NM_000071.3(CBS):c.774C>T (p.Gly258=) rs764925747 0.00005
NM_000091.5(COL4A3):c.2115T>A (p.Pro705=) rs201419174 0.00005
NM_000093.5(COL5A1):c.2097G>A (p.Thr699=) rs368590323 0.00005
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys) rs199703883 0.00005
NM_000110.4(DPYD):c.1280T>C (p.Val427Ala) rs200693895 0.00005
NM_000136.3(FANCC):c.1425A>G (p.Thr475=) rs199739450 0.00005
NM_000136.3(FANCC):c.1494T>C (p.Ala498=) rs76895298 0.00005
NM_000136.3(FANCC):c.1560C>T (p.His520=) rs150020474 0.00005
NM_000138.5(FBN1):c.1147+7G>A rs373156788 0.00005
NM_000138.5(FBN1):c.247+10T>C rs367618012 0.00005
NM_000138.5(FBN1):c.2927G>A (p.Arg976His) rs140954477 0.00005
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val) rs202240409 0.00005
NM_000138.5(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035 0.00005
NM_000152.5(GAA):c.510C>T (p.Asp170=) rs564758226 0.00005
NM_000170.3(GLDC):c.2181C>T (p.Asp727=) rs192045547 0.00005
NM_000179.3(MSH6):c.147C>T (p.Ala49=) rs768803986 0.00005
NM_000179.3(MSH6):c.2173A>G (p.Ile725Val) rs148898662 0.00005
NM_000179.3(MSH6):c.2239C>T (p.Leu747=) rs63751305 0.00005
NM_000179.3(MSH6):c.3399T>C (p.Thr1133=) rs61748084 0.00005
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=) rs63749834 0.00005
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp) rs375459388 0.00005
NM_000179.3(MSH6):c.3852G>A (p.Thr1284=) rs2229018 0.00005
NM_000202.8(IDS):c.851C>T (p.Pro284Leu) rs782286857 0.00005
NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=) rs200670744 0.00005
NM_000238.4(KCNH2):c.2055C>T (p.Arg685=) rs753149816 0.00005
NM_000249.4(MLH1):c.1392T>C (p.Pro464=) rs63750201 0.00005
NM_000251.3(MSH2):c.843A>T (p.Ser281=) rs150197753 0.00005
NM_000256.3(MYBPC3):c.3003C>T (p.Pro1001=) rs397515996 0.00005
NM_000276.4(OCRL):c.2245G>T (p.Ala749Ser) rs751678290 0.00005
NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg) rs199473128 0.00005
NM_000384.3(APOB):c.10371C>T (p.Ser3457=) rs139891446 0.00005
NM_000388.4(CASR):c.779A>G (p.Gln260Arg) rs200386687 0.00005
NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile) rs200703515 0.00005
NM_000416.3(IFNGR1):c.1389A>C (p.Leu463=) rs779937662 0.00005
NM_000455.5(STK11):c.366G>A (p.Lys122=) rs376969448 0.00005
NM_000455.5(STK11):c.375-7G>A rs587781176 0.00005
NM_000455.5(STK11):c.678C>T (p.Asn226=) rs748832988 0.00005
NM_000465.4(BARD1):c.1353A>T (p.Gly451=) rs369564500 0.00005
NM_000465.4(BARD1):c.1568T>C (p.Val523Ala) rs587780017 0.00005
NM_000465.4(BARD1):c.1593C>T (p.Val531=) rs564894014 0.00005
NM_000465.4(BARD1):c.738A>G (p.Pro246=) rs587780859 0.00005
NM_000492.4(CFTR):c.3469-20T>C rs373002889 0.00005
NM_000492.4(CFTR):c.510T>A (p.Arg170=) rs780772620 0.00005
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) rs33945705 0.00005
NM_000525.4(KCNJ11):c.894C>T (p.Thr298=) rs933392379 0.00005
NM_000527.5(LDLR):c.2251C>T (p.Arg751Trp) rs756864388 0.00005
NM_000535.7(PMS2):c.738C>G (p.Pro246=) rs202094399 0.00005
NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser) rs551509462 0.00005
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333 0.00005
NM_000719.7(CACNA1C):c.990G>A (p.Thr330=) rs371837699 0.00005
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser) rs375605948 0.00005
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473 0.00005
NM_001042492.3(NF1):c.5523A>G (p.Gln1841=) rs151046636 0.00005
NM_001048174.2(MUTYH):c.630C>T (p.Asn210=) rs767327888 0.00005
NM_001105206.3(LAMA4):c.5364C>A (p.Pro1788=) rs370510960 0.00005
NM_001110792.2(MECP2):c.1111T>C (p.Ser371Pro) rs61752371 0.00005
NM_001134363.3(RBM20):c.1899G>A (p.Pro633=) rs1446760969 0.00005
NM_001148.6(ANK2):c.4254C>T (p.Arg1418=) rs778974823 0.00005
NM_001148.6(ANK2):c.7153C>T (p.Pro2385Ser) rs372362152 0.00005
NM_001148.6(ANK2):c.7877C>T (p.Pro2626Leu) rs754511955 0.00005
NM_001159699.2(FHL1):c.550-15C>A rs764137409 0.00005
NM_001267550.2(TTN):c.19152A>G (p.Pro6384=) rs956813031 0.00005
NM_001267550.2(TTN):c.23616C>T (p.Asn7872=) rs181206334 0.00005
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=) rs199576800 0.00005
NM_001267550.2(TTN):c.28269A>G (p.Thr9423=) rs550056960 0.00005
NM_001267550.2(TTN):c.50083C>A (p.Arg16695=) rs751502842 0.00005
NM_001267550.2(TTN):c.56871C>T (p.Ser18957=) rs370619063 0.00005
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met) rs370375696 0.00005
NM_001291415.2(KDM6A):c.2018G>A (p.Arg673His) rs369284316 0.00005
NM_001360016.2(G6PD):c.690C>T (p.Ile230=) rs781917123 0.00005
NM_001370466.1(NOD2):c.1308C>T (p.Pro436=) rs200656015 0.00005
NM_001378454.1(ALMS1):c.4857A>G (p.Ala1619=) rs367772965 0.00005
NM_001378454.1(ALMS1):c.558C>T (p.Asp186=) rs370228166 0.00005
NM_001378454.1(ALMS1):c.60G>A (p.Glu20=) rs183407241 0.00005
NM_001378454.1(ALMS1):c.8961T>A (p.Leu2987=) rs201937708 0.00005
NM_001386795.1(DTNA):c.1848G>A (p.Thr616=) rs373742103 0.00005
NM_001943.5(DSG2):c.862G>A (p.Val288Ile) rs780374242 0.00005
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val) rs751400994 0.00005
NM_002230.4(JUP):c.560C>T (p.Ala187Val) rs782370709 0.00005
NM_002471.4(MYH6):c.5642A>G (p.Lys1881Arg) rs750886219 0.00005
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln) rs768140376 0.00005
NM_002834.5(PTPN11):c.990A>C (p.Thr330=) rs369739920 0.00005
NM_002880.4(RAF1):c.1272C>T (p.Cys424=) rs142942142 0.00005
NM_003036.4(SKI):c.994A>G (p.Ile332Val) rs374264201 0.00005
NM_003238.6(TGFB2):c.1008C>T (p.His336=) rs886038528 0.00005
NM_003242.6(TGFBR2):c.567C>T (p.Tyr189=) rs371221124 0.00005
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe) rs375310569 0.00005
NM_004006.3(DMD):c.1688G>A (p.Arg563His) rs191197223 0.00005
NM_004006.3(DMD):c.4456C>T (p.Pro1486Ser) rs762125605 0.00005
NM_004006.3(DMD):c.8390+18G>A rs756363477 0.00005
NM_004415.4(DSP):c.2247A>G (p.Leu749=) rs28763963 0.00005
NM_004415.4(DSP):c.4401A>G (p.Gln1467=) rs199818953 0.00005
NM_004415.4(DSP):c.5555G>A (p.Arg1852His) rs193922669 0.00005
NM_005188.4(CBL):c.1528C>G (p.Pro510Ala) rs538054260 0.00005
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu) rs369030902 0.00005
NM_005359.6(SMAD4):c.1608A>G (p.Leu536=) rs753128184 0.00005
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser) rs377119288 0.00005
NM_005585.5(SMAD6):c.841C>G (p.Arg281Gly) rs200004068 0.00005
NM_006030.4(CACNA2D2):c.1620C>T (p.Asn540=) rs200816734 0.00005
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg) rs367970442 0.00005
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_006506.5(RASA2):c.2337T>C (p.Cys779=) rs576697395 0.00005
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys) rs45521338 0.00005
NM_007294.4(BRCA1):c.1974G>C (p.Met658Ile) rs55678461 0.00005
NM_007294.4(BRCA1):c.2634A>G (p.Ala878=) rs730881451 0.00005
NM_007294.4(BRCA1):c.2883C>T (p.Asn961=) rs201190540 0.00005
NM_007294.4(BRCA1):c.4046C>T (p.Thr1349Met) rs80357345 0.00005
NM_007294.4(BRCA1):c.4653T>C (p.Ser1551=) rs587780863 0.00005
NM_007294.4(BRCA1):c.670+16G>A rs199916228 0.00005
NM_016343.4(CENPF):c.486C>T (p.Ser162=) rs755220921 0.00005
NM_016938.5(EFEMP2):c.111+17C>G rs768070943 0.00005
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr) rs567909904 0.00005
NM_017668.3(NDE1):c.948-9102G>A rs376174444 0.00005
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys) rs193922708 0.00005
NM_024675.4(PALB2):c.2442G>A (p.Glu814=) rs140776736 0.00005
NM_024675.4(PALB2):c.3249G>C (p.Glu1083Asp) rs147045425 0.00005
NM_032495.6(HOPX):c.215G>A (p.Arg72His) rs150574089 0.00005
NM_053025.4(MYLK):c.4292C>T (p.Pro1431Leu) rs746690413 0.00005
NM_130837.3(OPA1):c.1755-18G>T rs527537208 0.00005
NM_139076.3(ABRAXAS1):c.776G>C (p.Gly259Ala) rs201475497 0.00005
NM_144670.6(A2ML1):c.201A>G (p.Glu67=) rs371564965 0.00005
NM_144670.6(A2ML1):c.2984C>T (p.Thr995Met) rs755702632 0.00005
NM_144997.7(FLCN):c.1387T>C (p.Tyr463His) rs770077517 0.00005
NM_175914.5(HNF4A):c.*4G>A rs193922468 0.00005
NM_175914.5(HNF4A):c.241G>A (p.Val81Met) rs772786482 0.00005
NM_201384.3(PLEC):c.343-19G>C rs199908161 0.00005
NM_207361.6(FREM2):c.4569T>C (p.Arg1523=) rs146585542 0.00005
NM_000038.6(APC):c.1392T>C (p.His464=) rs1057524073 0.00004
NM_000038.6(APC):c.276C>T (p.Ser92=) rs369238363 0.00004
NM_000038.6(APC):c.2778T>C (p.Ser926=) rs371526966 0.00004
NM_000038.6(APC):c.2838A>G (p.Thr946=) rs142835322 0.00004
NM_000038.6(APC):c.3876G>A (p.Thr1292=) rs377494451 0.00004
NM_000038.6(APC):c.4233T>C (p.Ser1411=) rs761170573 0.00004
NM_000038.6(APC):c.4416A>T (p.Val1472=) rs773352404 0.00004
NM_000038.6(APC):c.5571A>C (p.Ser1857=) rs376624613 0.00004
NM_000038.6(APC):c.588C>T (p.Ile196=) rs147846364 0.00004
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala) rs138137162 0.00004
NM_000038.6(APC):c.8042C>T (p.Pro2681Leu) rs182456139 0.00004
NM_000038.6(APC):c.8061A>G (p.Ser2687=) rs746180965 0.00004
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn) rs369721828 0.00004
NM_000038.6(APC):c.8325G>A (p.Gly2775=) rs770719841 0.00004
NM_000051.4(ATM):c.1888G>A (p.Val630Met) rs148191382 0.00004
NM_000051.4(ATM):c.1953A>G (p.Leu651=) rs730881283 0.00004
NM_000051.4(ATM):c.2040C>T (p.Phe680=) rs587780855 0.00004
NM_000051.4(ATM):c.2610C>T (p.Asn870=) rs587780618 0.00004
NM_000051.4(ATM):c.2958T>G (p.Val986=) rs745971584 0.00004
NM_000051.4(ATM):c.3154-5C>T rs55719759 0.00004
NM_000051.4(ATM):c.3468G>A (p.Thr1156=) rs148358896 0.00004
NM_000051.4(ATM):c.3994-7C>T rs769346400 0.00004
NM_000051.4(ATM):c.4146A>G (p.Pro1382=) rs147738621 0.00004
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu) rs587779841 0.00004
NM_000051.4(ATM):c.510G>A (p.Val170=) rs375682557 0.00004
NM_000051.4(ATM):c.6333T>C (p.His2111=) rs55756349 0.00004
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr) rs587781365 0.00004
NM_000051.4(ATM):c.7779G>A (p.Gln2593=) rs770321620 0.00004
NM_000051.4(ATM):c.8391T>C (p.Ser2797=) rs566485657 0.00004
NM_000051.4(ATM):c.8629T>C (p.Leu2877=) rs730881279 0.00004
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys) rs1800558 0.00004
NM_000052.7(ATP7A):c.1156A>G (p.Met386Val) rs369419911 0.00004
NM_000053.4(ATP7B):c.2301C>T (p.Pro767=) rs770787421 0.00004
NM_000053.4(ATP7B):c.3489C>T (p.Ser1163=) rs193922106 0.00004
NM_000059.4(BRCA2):c.10222A>T (p.Lys3408Ter) rs80358402 0.00004
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp) rs398122731 0.00004
NM_000059.4(BRCA2):c.2526A>C (p.Val842=) rs770778164 0.00004
NM_000059.4(BRCA2):c.267G>A (p.Pro89=) rs587780648 0.00004
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser) rs80358531 0.00004
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545 0.00004
NM_000059.4(BRCA2):c.316+13A>G rs773097109 0.00004
NM_000059.4(BRCA2):c.3840T>C (p.Asp1280=) rs786201327 0.00004
NM_000059.4(BRCA2):c.4094G>A (p.Cys1365Tyr) rs80358657 0.00004
NM_000059.4(BRCA2):c.4410A>C (p.Ile1470=) rs747516635 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_000059.4(BRCA2):c.5793A>G (p.Gln1931=) rs371682489 0.00004
NM_000059.4(BRCA2):c.5969A>C (p.Asp1990Ala) rs148618542 0.00004
NM_000059.4(BRCA2):c.623T>G (p.Val208Gly) rs80358865 0.00004
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg) rs397507367 0.00004
NM_000059.4(BRCA2):c.6633T>C (p.Val2211=) rs80359795 0.00004
NM_000059.4(BRCA2):c.67+19T>C rs587780865 0.00004
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly) rs80358896 0.00004
NM_000059.4(BRCA2):c.6841+11A>G rs730881592 0.00004
NM_000059.4(BRCA2):c.6987G>A (p.Pro2329=) rs756619373 0.00004
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978 0.00004
NM_000059.4(BRCA2):c.8036A>G (p.Asp2679Gly) rs80359041 0.00004
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu) rs55763607 0.00004
NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp) rs80359129 0.00004
NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly) rs28897753 0.00004
NM_000059.4(BRCA2):c.8755-19A>G rs398122713 0.00004
NM_000059.4(BRCA2):c.887A>G (p.Tyr296Cys) rs45457795 0.00004
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His) rs80359143 0.00004
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228 0.00004
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg) rs756750256 0.00004
NM_000089.4(COL1A2):c.1148C>A (p.Pro383His) rs193922159 0.00004
NM_000093.5(COL5A1):c.1292G>A (p.Gly431Glu) rs370311038 0.00004
NM_000138.5(FBN1):c.2637C>T (p.Leu879=) rs202163602 0.00004
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met) rs774851476 0.00004
NM_000138.5(FBN1):c.405A>G (p.Leu135=) rs187254268 0.00004
NM_000138.5(FBN1):c.4095C>T (p.Asp1365=) rs375402043 0.00004
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile) rs363802 0.00004
NM_000138.5(FBN1):c.7230C>T (p.His2410=) rs193922231 0.00004
NM_000138.5(FBN1):c.8542A>C (p.Lys2848Gln) rs199846998 0.00004
NM_000179.3(MSH6):c.1068T>C (p.Gly356=) rs749752524 0.00004
NM_000179.3(MSH6):c.107C>T (p.Ala36Val) rs61756469 0.00004
NM_000179.3(MSH6):c.1974G>A (p.Val658=) rs372916347 0.00004
NM_000179.3(MSH6):c.2271C>T (p.Thr757=) rs142172006 0.00004
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly) rs63751450 0.00004
NM_000179.3(MSH6):c.2418C>T (p.Ser806=) rs770992427 0.00004
NM_000179.3(MSH6):c.260+10T>G rs193922342 0.00004
NM_000179.3(MSH6):c.364G>A (p.Glu122Lys) rs143036974 0.00004
NM_000179.3(MSH6):c.3729A>G (p.Thr1243=) rs773807182 0.00004
NM_000179.3(MSH6):c.3801+5G>A rs201080919 0.00004
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala) rs564434147 0.00004
NM_000218.3(KCNQ1):c.1905G>A (p.Gly635=) rs1003639764 0.00004
NM_000238.4(KCNH2):c.1945+18C>T rs778276270 0.00004
NM_000249.4(MLH1):c.1269G>A (p.Arg423=) rs373076967 0.00004
NM_000249.4(MLH1):c.1284T>C (p.Asp428=) rs772555970 0.00004
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00004
NM_000249.4(MLH1):c.794G>A (p.Arg265His) rs63751448 0.00004
NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg) rs749660228 0.00004
NM_000251.3(MSH2):c.1830C>T (p.His610=) rs766326295 0.00004
NM_000251.3(MSH2):c.2211-6C>A rs267608003 0.00004
NM_000251.3(MSH2):c.2580G>A (p.Ser860=) rs752428475 0.00004
NM_000251.3(MSH2):c.287G>A (p.Arg96His) rs63750002 0.00004
NM_000251.3(MSH2):c.336C>A (p.Ser112=) rs34312619 0.00004
NM_000251.3(MSH2):c.576C>T (p.Ile192=) rs864622381 0.00004
NM_000256.3(MYBPC3):c.150C>T (p.Ser50=) rs368918487 0.00004
NM_000256.3(MYBPC3):c.1518C>T (p.Asp506=) rs397515908 0.00004
NM_000256.3(MYBPC3):c.2319C>T (p.Asp773=) rs397515962 0.00004
NM_000257.4(MYH7):c.12G>A (p.Ser4=) rs45561941 0.00004
NM_000257.4(MYH7):c.1482T>C (p.Phe494=) rs587781088 0.00004
NM_000257.4(MYH7):c.4893C>T (p.His1631=) rs369164804 0.00004
NM_000257.4(MYH7):c.5253T>C (p.Ala1751=) rs776282574 0.00004
NM_000257.4(MYH7):c.633G>A (p.Pro211=) rs587781087 0.00004
NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met) rs187104739 0.00004
NM_000314.8(PTEN):c.*10T>A rs769236743 0.00004
NM_000335.5(SCN5A):c.103G>A (p.Gly35Ser) rs199473552 0.00004
NM_000335.5(SCN5A):c.1065C>T (p.Phe355=) rs45570333 0.00004
NM_000335.5(SCN5A):c.1914C>T (p.Gly638=) rs764488677 0.00004
NM_000335.5(SCN5A):c.2496C>T (p.Ile832=) rs761287478 0.00004
NM_000335.5(SCN5A):c.3057G>A (p.Val1019=) rs372395429 0.00004
NM_000335.5(SCN5A):c.3948T>C (p.Phe1316=) rs571705278 0.00004
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp) rs549319429 0.00004
NM_000352.6(ABCC8):c.1818C>T (p.Ser606=) rs202207978 0.00004
NM_000352.6(ABCC8):c.4677C>T (p.Phe1559=) rs771106160 0.00004
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021 0.00004
NM_000455.5(STK11):c.1044C>T (p.Asp348=) rs778274196 0.00004
NM_000455.5(STK11):c.1045G>A (p.Glu349Lys) rs553752236 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_000478.6(ALPL):c.529G>A (p.Ala177Thr) rs199669988 0.00004
NM_000492.4(CFTR):c.1679+9C>G rs775440240 0.00004
NM_000492.4(CFTR):c.2805A>G (p.Leu935=) rs368967922 0.00004
NM_000492.4(CFTR):c.2832G>A (p.Val944=) rs193922512 0.00004
NM_000492.4(CFTR):c.3180A>G (p.Lys1060=) rs142526976 0.00004
NM_000497.4(CYP11B1):c.1465T>C (p.Leu489=) rs373736765 0.00004
NM_000518.5(HBB):c.180G>A (p.Lys60=) rs34621955 0.00004
NM_000518.5(HBB):c.85C>T (p.Leu29=) rs33958088 0.00004
NM_000525.4(KCNJ11):c.54A>G (p.Ala18=) rs193922564 0.00004
NM_000527.5(LDLR):c.1380C>T (p.His460=) rs768883894 0.00004
NM_000527.5(LDLR):c.817+14A>G rs201875602 0.00004
NM_000535.7(PMS2):c.166C>G (p.Leu56Val) rs371011390 0.00004
NM_000535.7(PMS2):c.1806C>G (p.Ala602=) rs376046767 0.00004
NM_000535.7(PMS2):c.1936A>C (p.Arg646=) rs369582237 0.00004
NM_000535.7(PMS2):c.2049C>T (p.Asn683=) rs752950007 0.00004
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272 0.00004
NM_000535.7(PMS2):c.2358G>C (p.Leu786=) rs535056715 0.00004
NM_000540.3(RYR1):c.9859C>T (p.Arg3287Cys) rs201276068 0.00004
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser) rs766790596 0.00004
NM_000545.8(HNF1A):c.150C>T (p.Cys50=) rs193922583 0.00004
NM_000546.6(TP53):c.102C>G (p.Pro34=) rs11575998 0.00004
NM_000546.6(TP53):c.246G>A (p.Pro82=) rs372397095 0.00004
NM_000546.6(TP53):c.255T>C (p.Pro85=) rs775515332 0.00004
NM_000546.6(TP53):c.469G>A (p.Val157Ile) rs121912654 0.00004
NM_000548.5(TSC2):c.2887G>A (p.Val963Met) rs45517275 0.00004
NM_000548.5(TSC2):c.4767G>A (p.Pro1589=) rs769246304 0.00004
NM_000548.5(TSC2):c.5010C>T (p.His1670=) rs376306544 0.00004
NM_000552.5(VWF):c.5073C>T (p.Asp1691=) rs549367616 0.00004
NM_000719.7(CACNA1C):c.5737G>A (p.Asp1913Asn) rs181502604 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.2121G>A (p.Ser707=) rs139098675 0.00004
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) rs551045165 0.00004
NM_001005242.3(PKP2):c.789G>A (p.Thr263=) rs760432217 0.00004
NM_001005242.3(PKP2):c.953A>C (p.His318Pro) rs181098323 0.00004
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=) rs756280887 0.00004
NM_001035.3(RYR2):c.14875C>T (p.Arg4959Trp) rs755308070 0.00004
NM_001035.3(RYR2):c.385-14T>C rs372287944 0.00004
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile) rs201675951 0.00004
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) rs200318013 0.00004
NM_001035.3(RYR2):c.601T>C (p.Leu201=) rs752523583 0.00004
NM_001037.5(SCN1B):c.121A>G (p.Ile41Val) rs72552028 0.00004
NM_001040142.2(SCN2A):c.4551+10A>G rs767957352 0.00004
NM_001040142.2(SCN2A):c.5097C>G (p.Thr1699=) rs950010627 0.00004
NM_001042492.3(NF1):c.3690G>T (p.Val1230=) rs183296277 0.00004
NM_001042492.3(NF1):c.5793T>C (p.Ile1931=) rs779114598 0.00004
NM_001042492.3(NF1):c.6664A>G (p.Thr2222Ala) rs745945481 0.00004
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu) rs587778542 0.00004
NM_001048174.2(MUTYH):c.325C>T (p.Leu109=) rs368963039 0.00004
NM_001048174.2(MUTYH):c.87C>T (p.Asn29=) rs141679570 0.00004
NM_001048174.2(MUTYH):c.888G>C (p.Ser296=) rs771683103 0.00004
NM_001079.4(ZAP70):c.1155C>T (p.Arg385=) rs193922633 0.00004
NM_001079802.2(FKTN):c.444C>T (p.Asp148=) rs759808323 0.00004
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His) rs201335965 0.00004
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr) rs143150260 0.00004
NM_001103.4(ACTN2):c.777G>A (p.Ala259=) rs764583678 0.00004
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr) rs782239416 0.00004
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln) rs780427871 0.00004
NM_001148.6(ANK2):c.2622A>G (p.Ser874=) rs764486532 0.00004
NM_001148.6(ANK2):c.2964G>T (p.Gly988=) rs779092487 0.00004
NM_001148.6(ANK2):c.5758G>A (p.Gly1920Arg) rs140189724 0.00004
NM_001159699.2(FHL1):c.380-16T>C rs772665517 0.00004
NM_001164508.2(NEB):c.255C>T (p.Tyr85=) rs375749306 0.00004
NM_001165963.4(SCN1A):c.4167C>T (p.Asp1389=) rs376118833 0.00004
NM_001182.5(ALDH7A1):c.1415+13C>T rs776975478 0.00004
NM_001267550.2(TTN):c.23901T>G (p.Val7967=) rs550995785 0.00004
NM_001267550.2(TTN):c.24454G>A (p.Val8152Ile) rs397517507 0.00004
NM_001267550.2(TTN):c.31701C>T (p.Pro10567=) rs779404719 0.00004
NM_001267550.2(TTN):c.35268G>A (p.Pro11756=) rs778338717 0.00004
NM_001267550.2(TTN):c.51483G>A (p.Ala17161=) rs397517604 0.00004
NM_001267550.2(TTN):c.5255G>A (p.Arg1752His) rs150737838 0.00004
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile) rs397517636 0.00004
NM_001267550.2(TTN):c.5982G>A (p.Ser1994=) rs573823772 0.00004
NM_001267550.2(TTN):c.61276C>T (p.Leu20426Phe) rs377529060 0.00004
NM_001267550.2(TTN):c.73517G>A (p.Gly24506Asp) rs567446185 0.00004
NM_001267550.2(TTN):c.78992G>A (p.Arg26331Gln) rs758190406 0.00004
NM_001267550.2(TTN):c.83580G>A (p.Val27860=) rs200096597 0.00004
NM_001267550.2(TTN):c.83733C>T (p.Ser27911=) rs375442124 0.00004
NM_001267550.2(TTN):c.87495C>T (p.Asp29165=) rs371763584 0.00004
NM_001267550.2(TTN):c.8937C>T (p.Asn2979=) rs368525666 0.00004
NM_001267550.2(TTN):c.91332C>T (p.Asn30444=) rs397517752 0.00004
NM_001267550.2(TTN):c.91749C>T (p.Ser30583=) rs886044458 0.00004
NM_001267550.2(TTN):c.97795+12T>C rs759477837 0.00004
NM_001276345.2(TNNT2):c.882C>T (p.Thr294=) rs45465693 0.00004
NM_001278116.2(L1CAM):c.367G>A (p.Ala123Thr) rs782752037 0.00004
NM_001330260.2(SCN8A):c.1335G>A (p.Glu445=) rs576113589 0.00004
NM_001378454.1(ALMS1):c.1238-9A>G rs372652836 0.00004
NM_001378454.1(ALMS1):c.1695T>C (p.Thr565=) rs368992526 0.00004
NM_001378454.1(ALMS1):c.451-5T>G rs774098604 0.00004
NM_001378454.1(ALMS1):c.5355T>G (p.Val1785=) rs1420283861 0.00004
NM_001384474.1(LOXHD1):c.6339T>C (p.Asn2113=) rs181548456 0.00004
NM_001458.5(FLNC):c.1242C>T (p.Ile414=) rs761922411 0.00004
NM_001458.5(FLNC):c.4055G>A (p.Arg1352His) rs746731567 0.00004
NM_001613.4(ACTA2):c.216G>A (p.Pro72=) rs181255627 0.00004
NM_001848.3(COL6A1):c.1945G>A (p.Glu649Lys) rs764129993 0.00004
NM_001943.5(DSG2):c.1688T>G (p.Leu563Arg) rs780469370 0.00004
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu) rs771104668 0.00004
NM_001943.5(DSG2):c.2959G>T (p.Val987Phe) rs141405267 0.00004
NM_001999.4(FBN2):c.377G>A (p.Arg126His) rs528614556 0.00004
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093 0.00004
NM_002471.4(MYH6):c.4791C>T (p.Asp1597=) rs761627508 0.00004
NM_002474.3(MYH11):c.1864+19G>A rs200979632 0.00004
NM_002474.3(MYH11):c.3396C>T (p.Ala1132=) rs753096245 0.00004
NM_002474.3(MYH11):c.4072G>T (p.Ala1358Ser) rs763280025 0.00004
NM_002474.3(MYH11):c.5607G>A (p.Lys1869=) rs372546520 0.00004
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) rs121908974 0.00004
NM_002485.5(NBN):c.278C>T (p.Ser93Leu) rs12721593 0.00004
NM_002485.5(NBN):c.720C>T (p.Ser240=) rs781323381 0.00004
NM_002691.4(POLD1):c.1863C>T (p.Leu621=) rs963813695 0.00004
NM_002691.4(POLD1):c.2250+4G>A rs370478977 0.00004
NM_002691.4(POLD1):c.2429C>T (p.Ala810Val) rs765981178 0.00004
NM_002691.4(POLD1):c.2772C>T (p.Tyr924=) rs867074778 0.00004
NM_002734.5(PRKAR1A):c.178-8T>G rs771192586 0.00004
NM_002734.5(PRKAR1A):c.984A>G (p.Ala328=) rs1161181036 0.00004
NM_002755.4(MAP2K1):c.1123C>A (p.Leu375Ile) rs752538915 0.00004
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00004
NM_002880.4(RAF1):c.1913C>T (p.Thr638Met) rs730881007 0.00004
NM_003060.4(SLC22A5):c.246C>T (p.Arg82=) rs377767448 0.00004
NM_003098.3(SNTA1):c.1158G>A (p.Pro386=) rs774320273 0.00004
NM_003172.4(SURF1):c.36G>A (p.Arg12=) rs888052160 0.00004
NM_003238.6(TGFB2):c.1053G>A (p.Pro351=) rs142741166 0.00004
NM_003238.6(TGFB2):c.603C>T (p.Phe201=) rs377264861 0.00004
NM_003238.6(TGFB2):c.984G>A (p.Arg328=) rs147678881 0.00004
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) rs761991787 0.00004
NM_004004.6(GJB2):c.78C>T (p.Thr26=) rs201848820 0.00004
NM_004006.3(DMD):c.2076A>G (p.Glu692=) rs764950114 0.00004
NM_004006.3(DMD):c.6118-13T>G rs750033728 0.00004
NM_004100.5(EYA4):c.741A>G (p.Pro247=) rs752226573 0.00004
NM_004281.4(BAG3):c.1659A>T (p.Glu553Asp) rs763530097 0.00004
NM_004329.3(BMPR1A):c.1401C>T (p.Tyr467=) rs149787558 0.00004
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys) rs587782578 0.00004
NM_004333.6(BRAF):c.1667T>C (p.Ile556Thr) rs760524720 0.00004
NM_004333.6(BRAF):c.995C>T (p.Thr332Ile) rs1008080053 0.00004
NM_004360.5(CDH1):c.1392C>T (p.Val464=) rs373811706 0.00004
NM_004360.5(CDH1):c.2020A>T (p.Asn674Tyr) rs201637081 0.00004
NM_004360.5(CDH1):c.213C>T (p.Leu71=) rs376667778 0.00004
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln) rs587782549 0.00004
NM_004360.5(CDH1):c.375C>A (p.Pro125=) rs773044699 0.00004
NM_004360.5(CDH1):c.780C>T (p.Pro260=) rs765090311 0.00004
NM_004360.5(CDH1):c.84C>T (p.Cys28=) rs587780789 0.00004
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys) rs778350289 0.00004
NM_004588.5(SCN2B):c.356C>T (p.Pro119Leu) rs767589740 0.00004
NM_004612.4(TGFBR1):c.1479G>A (p.Ser493=) rs144985585 0.00004
NM_005050.4(ABCD4):c.998C>T (p.Thr333Met) rs181943870 0.00004
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe) rs730880434 0.00004
NM_005343.4(HRAS):c.534C>G (p.Gly178=) rs770431635 0.00004
NM_005359.6(SMAD4):c.1236C>T (p.Tyr412=) rs121912577 0.00004
NM_005359.6(SMAD4):c.228A>G (p.Arg76=) rs587780556 0.00004
NM_005559.4(LAMA1):c.7875C>T (p.Val2625=) rs114578861 0.00004
NM_005562.3(LAMC2):c.2421C>T (p.Ser807=) rs545568798 0.00004
NM_005629.4(SLC6A8):c.1885G>A (p.Val629Ile) rs781899045 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005751.5(AKAP9):c.9032A>G (p.Asp3011Gly) rs745743634 0.00004
NM_006231.4(POLE):c.2178C>T (p.Tyr726=) rs915331738 0.00004
NM_006231.4(POLE):c.834G>A (p.Thr278=) rs758368160 0.00004
NM_006393.3(NEBL):c.625G>A (p.Ala209Thr) rs142138590 0.00004
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val) rs769943554 0.00004
NM_006767.4(LZTR1):c.23G>C (p.Gly8Ala) rs764439278 0.00004
NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn) rs181275468 0.00004
NM_006939.4(SOS2):c.3076C>T (p.Pro1026Ser) rs201874067 0.00004
NM_006939.4(SOS2):c.532C>G (p.Gln178Glu) rs770603835 0.00004
NM_006939.4(SOS2):c.644G>A (p.Arg215Gln) rs538341032 0.00004
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886 0.00004
NM_007294.4(BRCA1):c.1237T>C (p.Leu413=) rs574008372 0.00004
NM_007294.4(BRCA1):c.1242C>T (p.Asp414=) rs372400428 0.00004
NM_007294.4(BRCA1):c.1419C>T (p.Asn473=) rs777228325 0.00004
NM_007294.4(BRCA1):c.1470A>G (p.Pro490=) rs775032066 0.00004
NM_007294.4(BRCA1):c.1893A>C (p.Leu631=) rs80356834 0.00004
NM_007294.4(BRCA1):c.2473G>T (p.Asp825Tyr) rs80357328 0.00004
NM_007294.4(BRCA1):c.2496A>T (p.Pro832=) rs767666029 0.00004
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val) rs80356874 0.00004
NM_007294.4(BRCA1):c.2735A>G (p.Lys912Arg) rs397507204 0.00004
NM_007294.4(BRCA1):c.288C>T (p.Asp96=) rs146085503 0.00004
NM_007294.4(BRCA1):c.2979A>G (p.Lys993=) rs772854836 0.00004
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175 0.00004
NM_007294.4(BRCA1):c.366T>G (p.Val122=) rs190900046 0.00004
NM_007294.4(BRCA1):c.3842A>C (p.Gln1281Pro) rs80357483 0.00004
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303 0.00004
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr) rs80357013 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala) rs397507233 0.00004
NM_007294.4(BRCA1):c.4657T>C (p.Leu1553=) rs80357431 0.00004
NM_007294.4(BRCA1):c.4669G>C (p.Asp1557His) rs80356906 0.00004
NM_007294.4(BRCA1):c.4735C>G (p.Pro1579Ala) rs145466894 0.00004
NM_007294.4(BRCA1):c.5157G>T (p.Val1719=) rs28897697 0.00004
NM_007294.4(BRCA1):c.5352A>G (p.Val1784=) rs767459025 0.00004
NM_007294.4(BRCA1):c.661G>T (p.Ala221Ser) rs80357088 0.00004
NM_007373.4(SHOC2):c.1731A>G (p.Pro577=) rs370929606 0.00004
NM_014476.6(PDLIM3):c.11C>T (p.Thr4Met) rs781358846 0.00004
NM_014697.3(NOS1AP):c.1309G>A (p.Glu437Lys) rs771956293 0.00004
NM_015046.7(SETX):c.3810G>A (p.Pro1270=) rs753022992 0.00004
NM_015175.3(NBEAL2):c.6993G>A (p.Gly2331=) rs758526014 0.00004
NM_015311.3(OBSL1):c.3304C>T (p.Arg1102Cys) rs562419349 0.00004
NM_016042.4(EXOSC3):c.294T>A (p.Gly98=) rs910605187 0.00004
NM_016938.5(EFEMP2):c.1212G>A (p.Pro404=) rs148302546 0.00004
NM_016938.5(EFEMP2):c.273A>G (p.Leu91=) rs770791862 0.00004
NM_017780.4(CHD7):c.8378C>G (p.Ala2793Gly) rs774242976 0.00004
NM_020297.4(ABCC9):c.1551T>C (p.Ser517=) rs996266050 0.00004
NM_021098.3(CACNA1H):c.1430G>A (p.Arg477His) rs1325999341 0.00004
NM_024422.6(DSC2):c.2175A>C (p.Pro725=) rs921649870 0.00004
NM_024426.6(WT1):c.813G>C (p.Pro271=) rs1341857958 0.00004
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr) rs370422990 0.00004
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu) rs62625272 0.00004
NM_024675.4(PALB2):c.2082A>G (p.Thr694=) rs781440401 0.00004
NM_024675.4(PALB2):c.3252G>A (p.Ser1084=) rs141570833 0.00004
NM_024675.4(PALB2):c.339A>C (p.Pro113=) rs376182266 0.00004
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277 0.00004
NM_030662.4(MAP2K2):c.274A>G (p.Arg92Gly) rs759061964 0.00004
NM_030662.4(MAP2K2):c.648C>T (p.Ser216=) rs147276536 0.00004
NM_030662.4(MAP2K2):c.889C>T (p.Arg297Trp) rs562352756 0.00004
NM_030662.4(MAP2K2):c.93-6C>T rs727504836 0.00004
NM_032043.3(BRIP1):c.1443T>C (p.Gly481=) rs775431508 0.00004
NM_032495.6(HOPX):c.167C>T (p.Ala56Val) rs752905777 0.00004
NM_033118.4(MYLK2):c.557C>T (p.Thr186Met) rs727504591 0.00004
NM_033337.3(CAV3):c.384C>T (p.Phe128=) rs773934743 0.00004
NM_052867.4(NALCN):c.540T>C (p.Ser180=) rs189925089 0.00004
NM_053025.4(MYLK):c.2936C>T (p.Pro979Leu) rs368229473 0.00004
NM_078470.6(COX15):c.135C>T (p.Thr45=) rs373219878 0.00004
NM_139076.3(ABRAXAS1):c.1091A>G (p.Asp364Gly) rs142910445 0.00004
NM_139076.3(ABRAXAS1):c.87+8G>C rs760693074 0.00004
NM_144670.6(A2ML1):c.2114T>C (p.Met705Thr) rs748085779 0.00004
NM_144670.6(A2ML1):c.2259C>T (p.His753=) rs747555996 0.00004
NM_144670.6(A2ML1):c.2260G>A (p.Val754Ile) rs769726608 0.00004
NM_144670.6(A2ML1):c.2486C>T (p.Ser829Leu) rs758305694 0.00004
NM_144670.6(A2ML1):c.3154A>G (p.Ile1052Val) rs753161669 0.00004
NM_144670.6(A2ML1):c.3935C>T (p.Thr1312Met) rs201083574 0.00004
NM_152594.3(SPRED1):c.594T>C (p.Gly198=) rs756643495 0.00004
NM_170707.4(LMNA):c.357-20C>T rs193922724 0.00004
NM_170707.4(LMNA):c.726G>A (p.Ala242=) rs763625309 0.00004
NM_174936.4(PCSK9):c.1539C>T (p.Asn513=) rs781492750 0.00004
NM_174936.4(PCSK9):c.1791C>T (p.His597=) rs374856617 0.00004
NM_174936.4(PCSK9):c.290G>A (p.Arg97His) rs376385276 0.00004
NM_206933.4(USH2A):c.1840+9C>T rs1452138200 0.00004
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro) rs368986242 0.00004
NM_000038.6(APC):c.1405C>T (p.Leu469=) rs746293695 0.00003
NM_000038.6(APC):c.1686G>A (p.Thr562=) rs770256026 0.00003
NM_000038.6(APC):c.385G>C (p.Glu129Gln) rs376628500 0.00003
NM_000038.6(APC):c.5181C>T (p.Cys1727=) rs1554086499 0.00003
NM_000038.6(APC):c.5506G>A (p.Gly1836Arg) rs766739164 0.00003
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867 0.00003
NM_000038.6(APC):c.6750C>T (p.Gly2250=) rs555799753 0.00003
NM_000038.6(APC):c.7146A>T (p.Thr2382=) rs780566379 0.00003
NM_000038.6(APC):c.7209G>A (p.Gln2403=) rs769603145 0.00003
NM_000038.6(APC):c.7278A>G (p.Gly2426=) rs756770951 0.00003
NM_000038.6(APC):c.7415C>T (p.Ala2472Val) rs200399245 0.00003
NM_000038.6(APC):c.8010A>G (p.Arg2670=) rs786201524 0.00003
NM_000038.6(APC):c.848G>A (p.Arg283Gln) rs149154604 0.00003
NM_000051.4(ATM):c.1332C>A (p.Pro444=) rs763361384 0.00003
NM_000051.4(ATM):c.1368A>G (p.Leu456=) rs750579940 0.00003
NM_000051.4(ATM):c.1905C>T (p.His635=) rs1020808836 0.00003
NM_000051.4(ATM):c.2187C>T (p.Tyr729=) rs373430058 0.00003
NM_000051.4(ATM):c.3237T>C (p.Ala1079=) rs564238520 0.00003
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser) rs368111672 0.00003
NM_000051.4(ATM):c.3300G>A (p.Thr1100=) rs587780621 0.00003
NM_000051.4(ATM):c.3354A>G (p.Thr1118=) rs377316982 0.00003
NM_000051.4(ATM):c.4674G>A (p.Thr1558=) rs876658474 0.00003
NM_000051.4(ATM):c.4731T>C (p.Thr1577=) rs145236132 0.00003
NM_000051.4(ATM):c.5550A>G (p.Leu1850=) rs35850088 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_000051.4(ATM):c.6526T>C (p.Leu2176=) rs143715818 0.00003
NM_000051.4(ATM):c.6888A>T (p.Ala2296=) rs200735689 0.00003
NM_000051.4(ATM):c.8100A>G (p.Lys2700=) rs778601472 0.00003
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile) rs779145081 0.00003
NM_000051.4(ATM):c.9006C>T (p.Phe3002=) rs540172506 0.00003
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=) rs570594838 0.00003
NM_000053.4(ATP7B):c.327G>A (p.Leu109=) rs760990530 0.00003
NM_000059.4(BRCA2):c.*15G>A rs376501142 0.00003
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg) rs80358442 0.00003
NM_000059.4(BRCA2):c.1631C>T (p.Thr544Ile) rs80358448 0.00003
NM_000059.4(BRCA2):c.273C>T (p.Tyr91=) rs145988146 0.00003
NM_000059.4(BRCA2):c.3225T>C (p.Ser1075=) rs779228375 0.00003
NM_000059.4(BRCA2):c.3254A>G (p.His1085Arg) rs80358570 0.00003
NM_000059.4(BRCA2):c.3462C>T (p.Thr1154=) rs4986856 0.00003
NM_000059.4(BRCA2):c.3711T>C (p.Ala1237=) rs745588537 0.00003
NM_000059.4(BRCA2):c.4269T>C (p.Thr1423=) rs786201377 0.00003
NM_000059.4(BRCA2):c.4301A>T (p.Lys1434Ile) rs397507714 0.00003
NM_000059.4(BRCA2):c.476-15T>C rs200458964 0.00003
NM_000059.4(BRCA2):c.5495C>A (p.Ser1832Tyr) rs138489917 0.00003
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys) rs80358784 0.00003
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833 0.00003
NM_000059.4(BRCA2):c.627C>T (p.Leu209=) rs28897704 0.00003
NM_000059.4(BRCA2):c.632-16A>C rs81002905 0.00003
NM_000059.4(BRCA2):c.6771C>T (p.Pro2257=) rs373696964 0.00003
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_000059.4(BRCA2):c.7341T>C (p.Asn2447=) rs4986858 0.00003
NM_000059.4(BRCA2):c.7436-14T>G rs81002814 0.00003
NM_000059.4(BRCA2):c.7506C>G (p.Arg2502=) rs140693106 0.00003
NM_000059.4(BRCA2):c.7596C>T (p.Pro2532=) rs748631472 0.00003
NM_000059.4(BRCA2):c.7632C>T (p.Gly2544=) rs551834979 0.00003
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=) rs146430937 0.00003
NM_000059.4(BRCA2):c.8694G>A (p.Leu2898=) rs556762256 0.00003
NM_000059.4(BRCA2):c.9118-20T>G rs776528159 0.00003
NM_000059.4(BRCA2):c.9190G>A (p.Asp3064Asn) rs80359177 0.00003
NM_000059.4(BRCA2):c.9237T>C (p.Val3079=) rs80359805 0.00003
NM_000059.4(BRCA2):c.9253A>C (p.Thr3085Pro) rs397507423 0.00003
NM_000071.3(CBS):c.1272C>T (p.Thr424=) rs141717913 0.00003
NM_000071.3(CBS):c.147G>A (p.Pro49=) rs771719483 0.00003
NM_000071.3(CBS):c.918C>T (p.Ile306=) rs201950895 0.00003
NM_000075.4(CDK4):c.549C>T (p.Pro183=) rs778696237 0.00003
NM_000075.4(CDK4):c.753C>G (p.Pro251=) rs757333818 0.00003
NM_000075.4(CDK4):c.84T>C (p.Ser28=) rs763203404 0.00003
NM_000077.5(CDKN2A):c.147C>A (p.Ile49=) rs200738474 0.00003
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=) rs794727586 0.00003
NM_000093.5(COL5A1):c.4905C>T (p.Pro1635=) rs760426595 0.00003
NM_000138.5(FBN1):c.1158C>T (p.Asn386=) rs368737502 0.00003
NM_000138.5(FBN1):c.1277C>T (p.Pro426Leu) rs146044644 0.00003
NM_000138.5(FBN1):c.1668G>A (p.Val556=) rs761662654 0.00003
NM_000138.5(FBN1):c.1992A>T (p.Gly664=) rs183929553 0.00003
NM_000138.5(FBN1):c.2658G>A (p.Pro886=) rs193922192 0.00003
NM_000138.5(FBN1):c.3216C>T (p.Asp1072=) rs757177349 0.00003
NM_000138.5(FBN1):c.3906A>G (p.Ser1302=) rs756186103 0.00003
NM_000138.5(FBN1):c.4413G>A (p.Glu1471=) rs756143911 0.00003
NM_000138.5(FBN1):c.4719T>C (p.Pro1573=) rs761947423 0.00003
NM_000138.5(FBN1):c.4803C>T (p.Thr1601=) rs747757998 0.00003
NM_000138.5(FBN1):c.5517C>T (p.Tyr1839=) rs750667880 0.00003
NM_000138.5(FBN1):c.7677T>C (p.Asp2559=) rs182358927 0.00003
NM_000138.5(FBN1):c.7842T>G (p.Ala2614=) rs764496589 0.00003
NM_000138.5(FBN1):c.8433G>A (p.Gly2811=) rs771873118 0.00003
NM_000152.5(GAA):c.351G>A (p.Leu117=) rs574947353 0.00003
NM_000157.4(GBA1):c.1447C>T (p.Leu483=) rs369966551 0.00003
NM_000179.3(MSH6):c.1065T>C (p.Gly355=) rs984907158 0.00003
NM_000179.3(MSH6):c.1167C>T (p.Pro389=) rs1042819 0.00003
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg) rs63749973 0.00003
NM_000179.3(MSH6):c.1785A>G (p.Leu595=) rs767325893 0.00003
NM_000179.3(MSH6):c.1917G>A (p.Glu639=) rs368059229 0.00003
NM_000179.3(MSH6):c.2319C>T (p.Leu773=) rs63749895 0.00003
NM_000179.3(MSH6):c.240A>G (p.Val80=) rs864622281 0.00003
NM_000179.3(MSH6):c.3426G>A (p.Thr1142=) rs747771350 0.00003
NM_000179.3(MSH6):c.393A>C (p.Val131=) rs752488540 0.00003
NM_000179.3(MSH6):c.627+9C>T rs373155872 0.00003
NM_000218.3(KCNQ1):c.858C>T (p.Asp286=) rs760047145 0.00003
NM_000237.3(LPL):c.112G>A (p.Glu38Lys) rs557015233 0.00003
NM_000243.3(MEFV):c.1179C>T (p.Pro393=) rs104895082 0.00003
NM_000243.3(MEFV):c.195C>T (p.Tyr65=) rs104895077 0.00003
NM_000249.4(MLH1):c.1743G>A (p.Pro581=) rs567838745 0.00003
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg) rs587779965 0.00003
NM_000251.3(MSH2):c.594A>G (p.Glu198=) rs369685768 0.00003
NM_000256.3(MYBPC3):c.165C>T (p.Tyr55=) rs780012957 0.00003
NM_000256.3(MYBPC3):c.2010C>T (p.Asp670=) rs558051480 0.00003
NM_000256.3(MYBPC3):c.2064G>A (p.Thr688=) rs758224257 0.00003
NM_000257.4(MYH7):c.3246-17T>A rs766164113 0.00003
NM_000264.5(PTCH1):c.1420G>A (p.Val474Ile) rs766898310 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.855A>G (p.Glu285=) rs751888926 0.00003
NM_000335.5(SCN5A):c.2364C>T (p.Ile788=) rs183177363 0.00003
NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met) rs199473187 0.00003
NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu) rs199473191 0.00003
NM_000368.5(TSC1):c.1585G>A (p.Ala529Thr) rs751125011 0.00003
NM_000384.3(APOB):c.10344C>T (p.Thr3448=) rs13306193 0.00003
NM_000455.5(STK11):c.566C>T (p.Thr189Ile) rs587781515 0.00003
NM_000455.5(STK11):c.588C>T (p.Gly196=) rs769309428 0.00003
NM_000455.5(STK11):c.615G>A (p.Ala205=) rs532889728 0.00003
NM_000455.5(STK11):c.876C>T (p.Tyr292=) rs148928808 0.00003
NM_000489.6(ATRX):c.6327-16A>G rs1457254023 0.00003
NM_000492.4(CFTR):c.1047G>A (p.Ala349=) rs200520623 0.00003
NM_000492.4(CFTR):c.1500C>A (p.Gly500=) rs762619288 0.00003
NM_000492.4(CFTR):c.1734A>G (p.Leu578=) rs201025424 0.00003
NM_000492.4(CFTR):c.2703C>T (p.Asn901=) rs764201518 0.00003
NM_000492.4(CFTR):c.2736G>A (p.Ser912=) rs200901072 0.00003
NM_000492.4(CFTR):c.3177A>G (p.Leu1059=) rs1800113 0.00003
NM_000518.5(HBB):c.-31C>T rs63750628 0.00003
NM_000525.4(KCNJ11):c.936C>T (p.Gly312=) rs139445409 0.00003
NM_000527.5(LDLR):c.186G>A (p.Thr62=) rs55958434 0.00003
NM_000527.5(LDLR):c.2388C>T (p.Ile796=) rs543852919 0.00003
NM_000527.5(LDLR):c.450C>T (p.Pro150=) rs773365925 0.00003
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys) rs551747280 0.00003
NM_000535.7(PMS2):c.1041G>A (p.Glu347=) rs150515238 0.00003
NM_000535.7(PMS2):c.1668A>G (p.Glu556=) rs876659780 0.00003
NM_000535.7(PMS2):c.681C>T (p.Ile227=) rs188813057 0.00003
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp) rs182246929 0.00003
NM_000535.7(PMS2):c.885G>A (p.Arg295=) rs786201615 0.00003
NM_000535.7(PMS2):c.915C>T (p.Leu305=) rs767392742 0.00003
NM_000540.3(RYR1):c.14601C>T (p.Ser4867=) rs370469515 0.00003
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser) rs201834803 0.00003
NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys) rs483353044 0.00003
NM_000546.6(TP53):c.180A>C (p.Pro60=) rs749289195 0.00003
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp) rs766451267 0.00003
NM_000551.4(VHL):c.549G>A (p.Ser183=) rs193922614 0.00003
NM_000552.5(VWF):c.2025G>A (p.Pro675=) rs779045480 0.00003
NM_000719.7(CACNA1C):c.1467C>T (p.Cys489=) rs781074075 0.00003
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser) rs761966966 0.00003
NM_000719.7(CACNA1C):c.5493G>A (p.Thr1831=) rs368046891 0.00003
NM_000875.5(IGF1R):c.3432C>T (p.Ala1144=) rs745442206 0.00003
NM_001032283.3(TMPO):c.330A>G (p.Leu110=) rs776054749 0.00003
NM_001035.3(RYR2):c.11877G>A (p.Ser3959=) rs754610647 0.00003
NM_001035.3(RYR2):c.12540C>T (p.Gly4180=) rs772125105 0.00003
NM_001035.3(RYR2):c.13672C>T (p.His4558Tyr) rs773264033 0.00003
NM_001035.3(RYR2):c.14152-15G>A rs371785571 0.00003
NM_001040142.2(SCN2A):c.3258C>T (p.Val1086=) rs760647603 0.00003
NM_001042492.3(NF1):c.4362C>T (p.Leu1454=) rs864622298 0.00003
NM_001042492.3(NF1):c.696A>G (p.Thr232=) rs368691517 0.00003
NM_001042492.3(NF1):c.8223G>C (p.Thr2741=) rs777755159 0.00003
NM_001042492.3(NF1):c.8394C>T (p.Asn2798=) rs376136174 0.00003
NM_001042492.3(NF1):c.8484C>T (p.Gly2828=) rs143289497 0.00003
NM_001048174.2(MUTYH):c.1472G>A (p.Arg491Gln) rs369410616 0.00003
NM_001048174.2(MUTYH):c.900C>T (p.Asp300=) rs587780752 0.00003
NM_001103.4(ACTN2):c.2551C>T (p.Arg851Cys) rs141563497 0.00003
NM_001103.4(ACTN2):c.645C>T (p.Ala215=) rs781683654 0.00003
NM_001110556.2(FLNA):c.7333+11C>T rs781878852 0.00003
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445 0.00003
NM_001114753.3(ENG):c.1323C>T (p.His441=) rs751203937 0.00003
NM_001127222.2(CACNA1A):c.1990C>T (p.Leu664=) rs1246140836 0.00003
NM_001130987.2(DYSF):c.5085C>T (p.Asp1695=) rs375326769 0.00003
NM_001134363.3(RBM20):c.2358C>T (p.Asp786=) rs1045844360 0.00003
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile) rs369747752 0.00003
NM_001134363.3(RBM20):c.541G>A (p.Gly181Arg) rs543478618 0.00003
NM_001250.6(CD40):c.474C>T (p.Phe158=) rs79661585 0.00003
NM_001267550.2(TTN):c.104385G>A (p.Lys34795=) rs397517790 0.00003
NM_001267550.2(TTN):c.106662G>A (p.Glu35554=) rs753862749 0.00003
NM_001267550.2(TTN):c.30444G>A (p.Ser10148=) rs367901929 0.00003
NM_001267550.2(TTN):c.33966G>A (p.Pro11322=) rs373083865 0.00003
NM_001267550.2(TTN):c.44367C>T (p.Tyr14789=) rs750270873 0.00003
NM_001267550.2(TTN):c.48781G>A (p.Asp16261Asn) rs764203042 0.00003
NM_001267550.2(TTN):c.51739+20G>A rs571361599 0.00003
NM_001267550.2(TTN):c.77040G>A (p.Glu25680=) rs988760489 0.00003
NM_001267550.2(TTN):c.78315C>T (p.Ile26105=) rs776432135 0.00003
NM_001267550.2(TTN):c.89796C>T (p.Asp29932=) rs376478710 0.00003
NM_001267550.2(TTN):c.91782T>C (p.Arg30594=) rs374345957 0.00003
NM_001267550.2(TTN):c.96921T>C (p.Asp32307=) rs771385738 0.00003
NM_001360.3(DHCR7):c.375C>T (p.Tyr125=) rs779401555 0.00003
NM_001365951.3(KIF1B):c.2115+6213G>T rs587777883 0.00003
NM_001370658.1(BTD):c.1456C>T (p.Leu486=) rs774018881 0.00003
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn) rs200337373 0.00003
NM_001384140.1(PCDH15):c.2799G>C (p.Gly933=) rs139853291 0.00003
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu) rs145425478 0.00003
NM_001458.5(FLNC):c.2673G>A (p.Thr891=) rs761823234 0.00003
NM_001613.4(ACTA2):c.390T>C (p.Asn130=) rs141933412 0.00003
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00003
NM_001999.4(FBN2):c.3279C>T (p.Ile1093=) rs142809999 0.00003
NM_002230.4(JUP):c.509C>T (p.Ser170Leu) rs782284038 0.00003
NM_002471.4(MYH6):c.4464C>T (p.Asn1488=) rs376781285 0.00003
NM_002474.3(MYH11):c.2442C>T (p.Thr814=) rs759602174 0.00003
NM_002474.3(MYH11):c.3104T>C (p.Met1035Thr) rs557463209 0.00003
NM_002474.3(MYH11):c.5652G>A (p.Arg1884=) rs150860193 0.00003
NM_002474.3(MYH11):c.5696A>G (p.Asn1899Ser) rs79129097 0.00003
NM_002485.5(NBN):c.1419A>G (p.Gln473=) rs587780535 0.00003
NM_002485.5(NBN):c.207A>G (p.Lys69=) rs754352569 0.00003
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser) rs374061873 0.00003
NM_002734.5(PRKAR1A):c.19G>A (p.Ala7Thr) rs369210646 0.00003
NM_002734.5(PRKAR1A):c.378C>T (p.Ala126=) rs199974368 0.00003
NM_002734.5(PRKAR1A):c.477C>T (p.Ile159=) rs372389205 0.00003
NM_002734.5(PRKAR1A):c.522C>T (p.Phe174=) rs148109898 0.00003
NM_002834.5(PTPN11):c.540C>T (p.Asp180=) rs753269427 0.00003
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp) rs143433437 0.00003
NM_002878.4(RAD51D):c.765G>A (p.Arg255=) rs751833940 0.00003
NM_002878.4(RAD51D):c.879G>A (p.Ala293=) rs368209468 0.00003
NM_002880.4(RAF1):c.1821G>A (p.Glu607=) rs747437834 0.00003
NM_002880.4(RAF1):c.600T>C (p.Thr200=) rs779808613 0.00003
NM_003042.4(SLC6A1):c.1722C>T (p.Ser574=) rs145387062 0.00003
NM_003242.6(TGFBR2):c.81C>T (p.His27=) rs1057520957 0.00003
NM_003476.5(CSRP3):c.327A>G (p.Lys109=) rs778512127 0.00003
NM_003640.5(ELP1):c.2748A>G (p.Glu916=) rs200551647 0.00003
NM_004006.3(DMD):c.3114G>A (p.Glu1038=) rs143810752 0.00003
NM_004329.3(BMPR1A):c.117C>T (p.Ser39=) rs757333646 0.00003
NM_004333.6(BRAF):c.622A>G (p.Ile208Val) rs727504571 0.00003
NM_004360.5(CDH1):c.1371G>A (p.Thr457=) rs370368644 0.00003
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile) rs36087757 0.00003
NM_004360.5(CDH1):c.1689C>T (p.Ala563=) rs587780786 0.00003
NM_004360.5(CDH1):c.184G>A (p.Gly62Ser) rs587781898 0.00003
NM_004360.5(CDH1):c.753G>A (p.Thr251=) rs371996897 0.00003
NM_004380.3(CREBBP):c.6516C>T (p.Asn2172=) rs763852812 0.00003
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) rs186842903 0.00003
NM_004526.4(MCM2):c.1836G>A (p.Ser612=) rs753889372 0.00003
NM_004612.4(TGFBR1):c.930G>A (p.Ala310=) rs139090459 0.00003
NM_004655.4(AXIN2):c.1665C>T (p.Cys555=) rs562421443 0.00003
NM_005159.5(ACTC1):c.300C>T (p.Pro100=) rs141322728 0.00003
NM_005188.4(CBL):c.1920G>A (p.Thr640=) rs202158626 0.00003
NM_005188.4(CBL):c.516A>G (p.Gly172=) rs765968487 0.00003
NM_005359.6(SMAD4):c.1461T>A (p.Ala487=) rs769607309 0.00003
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981 0.00003
NM_005591.4(MRE11):c.534A>G (p.Leu178=) rs374635285 0.00003
NM_005633.4(SOS1):c.162A>G (p.Gln54=) rs763520126 0.00003
NM_005633.4(SOS1):c.3867G>A (p.Gly1289=) rs767844484 0.00003
NM_005732.4(RAD50):c.3507C>T (p.Ala1169=) rs144557787 0.00003
NM_005751.5(AKAP9):c.5565A>G (p.Glu1855=) rs141094356 0.00003
NM_005751.5(AKAP9):c.7980A>C (p.Lys2660Asn) rs371461279 0.00003
NM_006231.4(POLE):c.1596C>T (p.His532=) rs114978673 0.00003
NM_006231.4(POLE):c.4269C>T (p.Ile1423=) rs761413102 0.00003
NM_006231.4(POLE):c.5313G>A (p.Thr1771=) rs201803493 0.00003
NM_006767.4(LZTR1):c.138G>A (p.Gly46=) rs977844214 0.00003
NM_006767.4(LZTR1):c.27G>A (p.Gly9=) rs750714248 0.00003
NM_006939.4(SOS2):c.1005T>C (p.Tyr335=) rs753698896 0.00003
NM_006946.4(SPTBN2):c.6378C>T (p.Thr2126=) rs770472919 0.00003
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile) rs587780167 0.00003
NM_007194.4(CHEK2):c.1563G>A (p.Arg521=) rs761278013 0.00003
NM_007194.4(CHEK2):c.1581C>T (p.Ala527=) rs781593101 0.00003
NM_007194.4(CHEK2):c.651A>G (p.Arg217=) rs774245273 0.00003
NM_007194.4(CHEK2):c.6T>C (p.Ser2=) rs768632104 0.00003
NM_007294.4(BRCA1):c.2123C>A (p.Ser708Tyr) rs80357182 0.00003
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108 0.00003
NM_007294.4(BRCA1):c.2726A>T (p.Asn909Ile) rs80357127 0.00003
NM_007294.4(BRCA1):c.2862A>G (p.Leu954=) rs559190752 0.00003
NM_007294.4(BRCA1):c.3063T>C (p.Ser1021=) rs1364539273 0.00003
NM_007294.4(BRCA1):c.3747C>T (p.Thr1249=) rs587780801 0.00003
NM_007294.4(BRCA1):c.4185+10G>C rs80358104 0.00003
NM_007294.4(BRCA1):c.5075-6C>A rs397507240 0.00003
NM_007294.4(BRCA1):c.507G>A (p.Gln169=) rs759882045 0.00003
NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser) rs80357171 0.00003
NM_007294.4(BRCA1):c.5333-8C>T rs80358084 0.00003
NM_007294.4(BRCA1):c.594-2A>C rs80358033 0.00003
NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe) rs80357394 0.00003
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) rs55680408 0.00003
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe) rs536611911 0.00003
NM_013975.4(LIG3):c.3008G>A (p.Arg1003Gln) rs140462567 0.00003
NM_014000.3(VCL):c.225A>G (p.Pro75=) rs759937112 0.00003
NM_015627.3(LDLRAP1):c.390A>G (p.Ala130=) rs375688706 0.00003
NM_017617.5(NOTCH1):c.4911C>T (p.Gly1637=) rs953232466 0.00003
NM_017780.4(CHD7):c.8610G>A (p.Ala2870=) rs375459176 0.00003
NM_021625.5(TRPV4):c.1104C>T (p.Asn368=) rs768593770 0.00003
NM_022114.4(PRDM16):c.2056A>G (p.Thr686Ala) rs575376153 0.00003
NM_024334.3(TMEM43):c.1112A>G (p.Tyr371Cys) rs752269639 0.00003
NM_024334.3(TMEM43):c.684C>T (p.Ser228=) rs371019231 0.00003
NM_024334.3(TMEM43):c.692C>T (p.Pro231Leu) rs533275736 0.00003
NM_024422.6(DSC2):c.2250+12G>T rs201039801 0.00003
NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln) rs535014010 0.00003
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) rs754720030 0.00003
NM_024675.4(PALB2):c.94C>G (p.Leu32Val) rs151316635 0.00003
NM_030662.4(MAP2K2):c.1065G>A (p.Ala355=) rs374807671 0.00003
NM_030662.4(MAP2K2):c.1176C>T (p.Pro392=) rs529064753 0.00003
NM_030662.4(MAP2K2):c.1182A>G (p.Thr394=) rs375253105 0.00003
NM_030662.4(MAP2K2):c.477G>A (p.Leu159=) rs748135585 0.00003
NM_030662.4(MAP2K2):c.818A>G (p.Lys273Arg) rs539555837 0.00003
NM_030777.4(SLC2A10):c.306C>T (p.Val102=) rs530216827 0.00003
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356 0.00003
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=) rs188258913 0.00003
NM_032043.3(BRIP1):c.312T>G (p.Thr104=) rs769190318 0.00003
NM_032043.3(BRIP1):c.672A>G (p.Gly224=) rs752356873 0.00003
NM_032043.3(BRIP1):c.702G>A (p.Lys234=) rs45512798 0.00003
NM_033109.5(PNPT1):c.2014-19G>C rs745401550 0.00003
NM_052876.4(NACC1):c.1556C>T (p.Ala519Val) rs781523419 0.00003
NM_053025.4(MYLK):c.2113C>T (p.Arg705Cys) rs547322504 0.00003
NM_053025.4(MYLK):c.344G>A (p.Arg115His) rs141131535 0.00003
NM_053025.4(MYLK):c.4224C>T (p.Asn1408=) rs149002594 0.00003
NM_054012.4(ASS1):c.570C>T (p.Tyr190=) rs758481857 0.00003
NM_054012.4(ASS1):c.786C>T (p.Gly262=) rs536799104 0.00003
NM_080680.3(COL11A2):c.2214+19G>A rs370515541 0.00003
NM_139076.3(ABRAXAS1):c.315T>C (p.His105=) rs375331034 0.00003
NM_144573.4(NEXN):c.634T>A (p.Tyr212Asn) rs769549962 0.00003
NM_144670.6(A2ML1):c.2658G>A (p.Gly886=) rs762588799 0.00003
NM_144670.6(A2ML1):c.3384C>G (p.Ala1128=) rs773681065 0.00003
NM_152594.3(SPRED1):c.306G>A (p.Thr102=) rs372791883 0.00003
NM_152594.3(SPRED1):c.42T>C (p.Tyr14=) rs764234046 0.00003
NM_170707.4(LMNA):c.885G>A (p.Ser295=) rs776999079 0.00003
NM_173483.4(CYP4F22):c.712G>A (p.Ala238Thr) rs572278771 0.00003
NM_174934.4(SCN4B):c.372C>T (p.Ser124=) rs1208629284 0.00003
NM_174936.4(PCSK9):c.1548G>A (p.Gly516=) rs557227031 0.00003
NM_174936.4(PCSK9):c.1947C>T (p.Ala649=) rs1316935112 0.00003
NM_174936.4(PCSK9):c.228C>T (p.Gly76=) rs376554821 0.00003
NM_174936.4(PCSK9):c.791C>T (p.Thr264Ile) rs201789841 0.00003
NM_175914.5(HNF4A):c.924G>T (p.Ser308=) rs140146223 0.00003
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys) rs145365553 0.00003
NM_198525.3(KIF7):c.2760G>A (p.Glu920=) rs777277054 0.00003
NM_000038.6(APC):c.1272G>A (p.Gln424=) rs778975532 0.00002
NM_000038.6(APC):c.288T>C (p.Tyr96=) rs376213437 0.00002
NM_000038.6(APC):c.7182T>C (p.Ser2394=) rs777420141 0.00002
NM_000038.6(APC):c.7781C>G (p.Ser2594Cys) rs543396310 0.00002
NM_000038.6(APC):c.7833A>G (p.Thr2611=) rs1057520909 0.00002
NM_000038.6(APC):c.8199A>G (p.Gln2733=) rs372365378 0.00002
NM_000038.6(APC):c.835-3T>C rs372090940 0.00002
NM_000051.4(ATM):c.1629T>G (p.Thr543=) rs760285673 0.00002
NM_000051.4(ATM):c.2082T>C (p.Leu694=) rs369642243 0.00002
NM_000051.4(ATM):c.2085G>A (p.Leu695=) rs786202229 0.00002
NM_000051.4(ATM):c.2115C>T (p.Tyr705=) rs876659149 0.00002
NM_000051.4(ATM):c.3219A>G (p.Val1073=) rs752849892 0.00002
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile) rs35184530 0.00002
NM_000051.4(ATM):c.4050G>A (p.Thr1350=) rs770697446 0.00002
NM_000051.4(ATM):c.4332G>A (p.Leu1444=) rs753570046 0.00002
NM_000051.4(ATM):c.4482T>C (p.Cys1494=) rs769071554 0.00002
NM_000051.4(ATM):c.4575A>T (p.Ile1525=) rs781539071 0.00002
NM_000051.4(ATM):c.6042G>A (p.Glu2014=) rs138987778 0.00002
NM_000051.4(ATM):c.6219C>G (p.Leu2073=) rs752478345 0.00002
NM_000051.4(ATM):c.6396A>G (p.Leu2132=) rs370537345 0.00002
NM_000051.4(ATM):c.6774C>T (p.Leu2258=) rs1057520450 0.00002
NM_000051.4(ATM):c.8121C>T (p.Ser2707=) rs770138283 0.00002
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His) rs80358398 0.00002
NM_000059.4(BRCA2):c.1284A>G (p.Leu428=) rs34770647 0.00002
NM_000059.4(BRCA2):c.1287A>G (p.Leu429=) rs80359782 0.00002
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709 0.00002
NM_000059.4(BRCA2):c.167A>C (p.Asn56Thr) rs80358454 0.00002
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr) rs55962656 0.00002
NM_000059.4(BRCA2):c.183A>G (p.Leu61=) rs776638534 0.00002
NM_000059.4(BRCA2):c.2094A>G (p.Leu698=) rs28897714 0.00002
NM_000059.4(BRCA2):c.2226A>G (p.Gln742=) rs748757085 0.00002
NM_000059.4(BRCA2):c.2256C>T (p.Asp752=) rs766384913 0.00002
NM_000059.4(BRCA2):c.2391G>A (p.Lys797=) rs587776462 0.00002
NM_000059.4(BRCA2):c.2459A>G (p.Asp820Gly) rs80358511 0.00002
NM_000059.4(BRCA2):c.2484T>C (p.Tyr828=) rs45619134 0.00002
NM_000059.4(BRCA2):c.2716A>G (p.Thr906Ala) rs80358528 0.00002
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717 0.00002
NM_000059.4(BRCA2):c.3176T>G (p.Leu1059Arg) rs1064793927 0.00002
NM_000059.4(BRCA2):c.3714G>A (p.Val1238=) rs780000105 0.00002
NM_000059.4(BRCA2):c.4062G>A (p.Thr1354=) rs768735660 0.00002
NM_000059.4(BRCA2):c.4530C>T (p.Pro1510=) rs757731214 0.00002
NM_000059.4(BRCA2):c.4767A>G (p.Pro1589=) rs755818549 0.00002
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp) rs80358703 0.00002
NM_000059.4(BRCA2):c.534A>G (p.Lys178=) rs28897703 0.00002
NM_000059.4(BRCA2):c.5474C>T (p.Ala1825Val) rs397507352 0.00002
NM_000059.4(BRCA2):c.5688A>G (p.Ala1896=) rs768907899 0.00002
NM_000059.4(BRCA2):c.5737T>C (p.Cys1913Arg) rs80358799 0.00002
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr) rs80358822 0.00002
NM_000059.4(BRCA2):c.6054T>C (p.Ser2018=) rs540799830 0.00002
NM_000059.4(BRCA2):c.708T>C (p.His236=) rs185506536 0.00002
NM_000059.4(BRCA2):c.7317A>G (p.Gly2439=) rs587780660 0.00002
NM_000059.4(BRCA2):c.7413A>G (p.Thr2471=) rs138067005 0.00002
NM_000059.4(BRCA2):c.7559G>A (p.Arg2520Gln) rs80358982 0.00002
NM_000059.4(BRCA2):c.7986G>A (p.Thr2662=) rs1057522378 0.00002
NM_000059.4(BRCA2):c.8007A>G (p.Arg2669=) rs143999963 0.00002
NM_000059.4(BRCA2):c.8027T>C (p.Met2676Thr) rs80359038 0.00002
NM_000059.4(BRCA2):c.8163T>C (p.Leu2721=) rs786201741 0.00002
NM_000059.4(BRCA2):c.8331+16C>G rs730881595 0.00002
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His) rs80359078 0.00002
NM_000059.4(BRCA2):c.8505A>G (p.Ser2835=) rs765655952 0.00002
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His) rs80359128 0.00002
NM_000059.4(BRCA2):c.90T>C (p.Asn30=) rs760655471 0.00002
NM_000059.4(BRCA2):c.9234C>T (p.Val3078=) rs587782428 0.00002
NM_000059.4(BRCA2):c.9270C>T (p.Phe3090=) rs587780873 0.00002
NM_000059.4(BRCA2):c.9285C>T (p.Asp3095=) rs80359198 0.00002
NM_000059.4(BRCA2):c.9426T>C (p.Asp3142=) rs786201946 0.00002
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241 0.00002
NM_000059.4(BRCA2):c.9838C>T (p.Pro3280Ser) rs55835607 0.00002
NM_000059.4(BRCA2):c.9918C>A (p.Thr3306=) rs562881210 0.00002
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser) rs76635144 0.00002
NM_000075.4(CDK4):c.661G>A (p.Asp221Asn) rs587778187 0.00002
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys) rs587778188 0.00002
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His) rs543809032 0.00002
NM_000090.4(COL3A1):c.4338C>T (p.Pro1446=) rs376207711 0.00002
NM_000090.4(COL3A1):c.582+12C>T rs41272799 0.00002
NM_000090.4(COL3A1):c.696A>G (p.Glu232=) rs193922177 0.00002
NM_000093.5(COL5A1):c.1818C>T (p.Pro606=) rs761257919 0.00002
NM_000093.5(COL5A1):c.5437G>A (p.Val1813Met) rs755914340 0.00002
NM_000117.3(EMD):c.276C>T (p.Asp92=) rs782680849 0.00002
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg) rs201063698 0.00002
NM_000138.5(FBN1):c.4488G>A (p.Thr1496=) rs370494288 0.00002
NM_000138.5(FBN1):c.6180C>T (p.Tyr2060=) rs974604498 0.00002
NM_000138.5(FBN1):c.7533T>C (p.Cys2511=) rs750331217 0.00002
NM_000138.5(FBN1):c.7683C>T (p.Thr2561=) rs758353830 0.00002
NM_000152.5(GAA):c.1083G>A (p.Pro361=) rs781379047 0.00002
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846 0.00002
NM_000155.4(GALT):c.799C>T (p.Leu267=) rs764006034 0.00002
NM_000162.5(GCK):c.1285A>C (p.Arg429=) rs140672134 0.00002
NM_000179.3(MSH6):c.1308C>T (p.Tyr436=) rs761037236 0.00002
NM_000179.3(MSH6):c.1509C>T (p.Ser503=) rs545020313 0.00002
NM_000179.3(MSH6):c.1668T>C (p.Tyr556=) rs730882130 0.00002
NM_000179.3(MSH6):c.1773A>G (p.Pro591=) rs752239740 0.00002
NM_000179.3(MSH6):c.2241G>A (p.Leu747=) rs377722465 0.00002
NM_000179.3(MSH6):c.2508C>T (p.Asn836=) rs758170249 0.00002
NM_000179.3(MSH6):c.2775A>G (p.Gly925=) rs587779248 0.00002
NM_000179.3(MSH6):c.2973A>G (p.Pro991=) rs1057521349 0.00002
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser) rs186240214 0.00002
NM_000179.3(MSH6):c.3786G>A (p.Val1262=) rs760771483 0.00002
NM_000179.3(MSH6):c.3832C>A (p.Pro1278Thr) rs587782109 0.00002
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met) rs63750836 0.00002
NM_000179.3(MSH6):c.3951T>C (p.His1317=) rs764786814 0.00002
NM_000179.3(MSH6):c.609A>G (p.Glu203=) rs536686679 0.00002
NM_000179.3(MSH6):c.615A>G (p.Glu205=) rs1334827373 0.00002
NM_000179.3(MSH6):c.852T>C (p.Asp284=) rs1057520320 0.00002
NM_000218.3(KCNQ1):c.1794+10C>T rs558507741 0.00002
NM_000218.3(KCNQ1):c.642C>T (p.Cys214=) rs775479779 0.00002
NM_000249.4(MLH1):c.45G>C (p.Val15=) rs768409958 0.00002
NM_000251.3(MSH2):c.1014A>C (p.Gly338=) rs774083607 0.00002
NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu) rs41294982 0.00002
NM_000251.3(MSH2):c.2010C>T (p.Pro670=) rs766618212 0.00002
NM_000251.3(MSH2):c.2061C>G (p.Leu687=) rs63750032 0.00002
NM_000251.3(MSH2):c.2277A>G (p.Gly759=) rs1057520316 0.00002
NM_000251.3(MSH2):c.304G>A (p.Val102Ile) rs193922373 0.00002
NM_000256.3(MYBPC3):c.108A>G (p.Ala36=) rs754870909 0.00002
NM_000256.3(MYBPC3):c.1593G>A (p.Gly531=) rs727503199 0.00002
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=) rs397515929 0.00002
NM_000256.3(MYBPC3):c.2784G>C (p.Ser928=) rs372510974 0.00002
NM_000256.3(MYBPC3):c.3138G>A (p.Thr1046=) rs762154672 0.00002
NM_000257.4(MYH7):c.354G>A (p.Ser118=) rs368925624 0.00002
NM_000257.4(MYH7):c.4389G>A (p.Ser1463=) rs781203524 0.00002
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn) rs145520567 0.00002
NM_000302.4(PLOD1):c.882C>T (p.Ile294=) rs747668784 0.00002
NM_000314.8(PTEN):c.261A>G (p.Gln87=) rs149772796 0.00002
NM_000314.8(PTEN):c.411A>G (p.Ala137=) rs144545031 0.00002
NM_000314.8(PTEN):c.456A>G (p.Leu152=) rs779626613 0.00002
NM_000335.5(SCN5A):c.2001C>T (p.Ser667=) rs587781161 0.00002
NM_000335.5(SCN5A):c.2014G>A (p.Ala672Thr) rs199473140 0.00002
NM_000335.5(SCN5A):c.2141T>C (p.Val714Ala) rs759036311 0.00002
NM_000335.5(SCN5A):c.2667C>T (p.Leu889=) rs587781162 0.00002
NM_000335.5(SCN5A):c.453C>T (p.His151=) rs199996750 0.00002
NM_000335.5(SCN5A):c.5960T>G (p.Leu1987Arg) rs145009013 0.00002
NM_000377.3(WAS):c.273+15C>T rs1286865928 0.00002
NM_000382.3(ALDH3A2):c.909T>G (p.Gly303=) rs755458255 0.00002
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu) rs778835151 0.00002
NM_000397.4(CYBB):c.621C>T (p.Tyr207=) rs371655268 0.00002
NM_000455.5(STK11):c.597+9G>A rs863224361 0.00002
NM_000455.5(STK11):c.984C>G (p.Thr328=) rs730881965 0.00002
NM_000465.4(BARD1):c.564T>G (p.Pro188=) rs748511245 0.00002
NM_000465.4(BARD1):c.945A>T (p.Pro315=) rs876660284 0.00002
NM_000486.6(AQP2):c.438C>T (p.Phe146=) rs143886391 0.00002
NM_000489.6(ATRX):c.7044A>G (p.Gln2348=) rs375935735 0.00002
NM_000492.4(CFTR):c.1287C>T (p.Phe429=) rs763577850 0.00002
NM_000492.4(CFTR):c.2259C>T (p.Ser753=) rs201888075 0.00002
NM_000492.4(CFTR):c.336T>C (p.Asp112=) rs909596175 0.00002
NM_000492.4(CFTR):c.3789T>C (p.Thr1263=) rs200921635 0.00002
NM_000492.4(CFTR):c.3852A>G (p.Lys1284=) rs547248892 0.00002
NM_000492.4(CFTR):c.54-5939G>T rs1486318196 0.00002
NM_000492.4(CFTR):c.627A>G (p.Ala209=) rs397508773 0.00002
NM_000503.6(EYA1):c.966+8A>G rs190039495 0.00002
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496 0.00002
NM_000518.5(HBB):c.316-150C>G rs193922556 0.00002
NM_000527.5(LDLR):c.993C>T (p.Asp331=) rs147905921 0.00002
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013 0.00002
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413 0.00002
NM_000535.7(PMS2):c.1629C>T (p.Asp543=) rs111673299 0.00002
NM_000535.7(PMS2):c.2349C>T (p.Val783=) rs751036491 0.00002
NM_000540.3(RYR1):c.2203C>T (p.His735Tyr) rs771629253 0.00002
NM_000540.3(RYR1):c.9555-14G>A rs763353979 0.00002
NM_000545.8(HNF1A):c.1745A>G (p.His582Arg) rs193922589 0.00002
NM_000545.8(HNF1A):c.216C>T (p.Asp72=) rs148961412 0.00002
NM_000546.6(TP53):c.18A>C (p.Ser6=) rs573130482 0.00002
NM_000546.6(TP53):c.234A>G (p.Ala78=) rs375099397 0.00002
NM_000546.6(TP53):c.468C>T (p.Arg156=) rs761222871 0.00002
NM_000546.6(TP53):c.510G>A (p.Thr170=) rs757544615 0.00002
NM_000546.6(TP53):c.582T>C (p.Leu194=) rs370216745 0.00002
NM_000548.5(TSC2):c.4849+18C>T rs45517374 0.00002
NM_000548.5(TSC2):c.721G>A (p.Val241Ile) rs200943828 0.00002
NM_000719.7(CACNA1C):c.1689G>C (p.Leu563=) rs372908090 0.00002
NM_000719.7(CACNA1C):c.408C>T (p.Ala136=) rs769295096 0.00002
NM_000719.7(CACNA1C):c.6234C>T (p.Ala2078=) rs774966357 0.00002
NM_001005242.3(PKP2):c.1857G>A (p.Pro619=) rs760434776 0.00002
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=) rs368325383 0.00002
NM_001005242.3(PKP2):c.2421G>A (p.Thr807=) rs199900632 0.00002
NM_001005242.3(PKP2):c.2483C>T (p.Thr828Ile) rs370599966 0.00002
NM_001005242.3(PKP2):c.558C>T (p.Ala186=) rs184522105 0.00002
NM_001005242.3(PKP2):c.687C>T (p.Thr229=) rs1209406571 0.00002
NM_001032283.3(TMPO):c.565+1232C>T rs369897433 0.00002
NM_001034116.2(EIF2B4):c.1400G>A (p.Arg467Gln) rs751555693 0.00002
NM_001035.3(RYR2):c.12579C>T (p.Cys4193=) rs369532267 0.00002
NM_001035.3(RYR2):c.14896C>T (p.Leu4966=) rs368031082 0.00002
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu) rs754364233 0.00002
NM_001042492.3(NF1):c.2224G>T (p.Ala742Ser) rs587781896 0.00002
NM_001042492.3(NF1):c.2294G>A (p.Arg765His) rs199474777 0.00002
NM_001042492.3(NF1):c.4434T>C (p.Phe1478=) rs1310523976 0.00002
NM_001042492.3(NF1):c.5574A>G (p.Ala1858=) rs760561904 0.00002
NM_001042492.3(NF1):c.8139G>A (p.Arg2713=) rs139527415 0.00002
NM_001048174.2(MUTYH):c.183C>T (p.Asp61=) rs538419476 0.00002
NM_001048174.2(MUTYH):c.441T>C (p.Ala147=) rs786201352 0.00002
NM_001079802.2(FKTN):c.342A>G (p.Ala114=) rs368598407 0.00002
NM_001085049.3(MRAS):c.22A>G (p.Ser8Gly) rs547745521 0.00002
NM_001103.4(ACTN2):c.2643C>T (p.Tyr881=) rs727505177 0.00002
NM_001110556.2(FLNA):c.1314C>T (p.Gly438=) rs372113435 0.00002
NM_001110556.2(FLNA):c.2724C>T (p.Asp908=) rs1557178153 0.00002
NM_001110556.2(FLNA):c.3705C>T (p.Tyr1235=) rs368741634 0.00002
NM_001110556.2(FLNA):c.4044C>T (p.Pro1348=) rs782525345 0.00002
NM_001110556.2(FLNA):c.7452C>T (p.Arg2484=) rs782320498 0.00002
NM_001110792.2(MECP2):c.414-6C>G rs782482746 0.00002
NM_001127222.2(CACNA1A):c.540-20T>C rs756413933 0.00002
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130 0.00002
NM_001145809.2(MYH14):c.4259C>T (p.Ala1420Val) rs727503225 0.00002
NM_001148.6(ANK2):c.2869G>A (p.Val957Met) rs756861229 0.00002
NM_001165963.4(SCN1A):c.3276T>G (p.Val1092=) rs895560193 0.00002
NM_001205293.3(CACNA1E):c.324G>A (p.Leu108=) rs753350389 0.00002
NM_001267550.2(TTN):c.104691G>A (p.Ser34897=) rs369619711 0.00002
NM_001267550.2(TTN):c.14502A>G (p.Ala4834=) rs779926164 0.00002
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540 0.00002
NM_001267550.2(TTN):c.21962-15G>A rs369307143 0.00002
NM_001267550.2(TTN):c.2205C>T (p.Tyr735=) rs1005406948 0.00002
NM_001267550.2(TTN):c.2301A>G (p.Arg767=) rs746831560 0.00002
NM_001267550.2(TTN):c.27285T>C (p.Asn9095=) rs372827810 0.00002
NM_001267550.2(TTN):c.29397C>T (p.Gly9799=) rs770084292 0.00002
NM_001267550.2(TTN):c.33657G>A (p.Pro11219=) rs754038093 0.00002
NM_001267550.2(TTN):c.342C>T (p.Thr114=) rs758521732 0.00002
NM_001267550.2(TTN):c.34965C>T (p.Ala11655=) rs996246602 0.00002
NM_001267550.2(TTN):c.42933T>C (p.Asn14311=) rs148528251 0.00002
NM_001267550.2(TTN):c.44425-13T>A rs565739809 0.00002
NM_001267550.2(TTN):c.54494G>A (p.Arg18165His) rs574313741 0.00002
NM_001267550.2(TTN):c.57369C>T (p.Thr19123=) rs199742163 0.00002
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=) rs727505101 0.00002
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=) rs371514555 0.00002
NM_001267550.2(TTN):c.66600C>T (p.Ser22200=) rs371324060 0.00002
NM_001267550.2(TTN):c.69960C>T (p.Asn23320=) rs752969136 0.00002
NM_001267550.2(TTN):c.70983G>A (p.Pro23661=) rs568193318 0.00002
NM_001267550.2(TTN):c.72675G>A (p.Pro24225=) rs374314698 0.00002
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766 0.00002
NM_001267550.2(TTN):c.7524T>C (p.His2508=) rs2291307 0.00002
NM_001267550.2(TTN):c.92715C>T (p.Gly30905=) rs140576051 0.00002
NM_001267550.2(TTN):c.93474C>T (p.Asp31158=) rs750803038 0.00002
NM_001267550.2(TTN):c.95550G>A (p.Lys31850=) rs775609788 0.00002
NM_001330.5(CTF1):c.83G>A (p.Arg28His) rs201703547 0.00002
NM_001360016.2(G6PD):c.264C>G (p.Phe88Leu) rs781794862 0.00002
NM_001365951.3(KIF1B):c.4947-11C>G rs761028018 0.00002
NM_001367624.2(ZNF469):c.99G>A (p.Pro33=) rs273585631 0.00002
NM_001378454.1(ALMS1):c.1731T>C (p.His577=) rs768761501 0.00002
NM_001378454.1(ALMS1):c.3048G>A (p.Glu1016=) rs765275016 0.00002
NM_001378454.1(ALMS1):c.4314C>T (p.Phe1438=) rs541180403 0.00002
NM_001378454.1(ALMS1):c.9708G>A (p.Lys3236=) rs574095166 0.00002
NM_001386795.1(DTNA):c.1776C>T (p.Pro592=) rs113072494 0.00002
NM_001458.5(FLNC):c.1976T>G (p.Leu659Arg) rs576402053 0.00002
NM_001458.5(FLNC):c.3255C>T (p.Ile1085=) rs771719713 0.00002
NM_001844.5(COL2A1):c.2433T>A (p.Pro811=) rs1441776862 0.00002
NM_001875.5(CPS1):c.2623A>G (p.Lys875Glu) rs147062907 0.00002
NM_001943.5(DSG2):c.3225G>A (p.Thr1075=) rs773954315 0.00002
NM_001943.5(DSG2):c.3291T>C (p.Asn1097=) rs757473850 0.00002
NM_001999.4(FBN2):c.1434C>T (p.Ala478=) rs755786214 0.00002
NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp) rs371046485 0.00002
NM_001999.4(FBN2):c.2772C>T (p.Leu924=) rs773453872 0.00002
NM_001999.4(FBN2):c.69G>T (p.Ala23=) rs774856011 0.00002
NM_002230.4(JUP):c.707+14C>T rs1313165709 0.00002
NM_002474.3(MYH11):c.1130-13T>C rs752403056 0.00002
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser) rs563865467 0.00002
NM_002474.3(MYH11):c.4786A>C (p.Arg1596=) rs754931029 0.00002
NM_002485.5(NBN):c.1893A>G (p.Leu631=) rs778364604 0.00002
NM_002485.5(NBN):c.2184+8G>C rs730881842 0.00002
NM_002485.5(NBN):c.966C>T (p.Tyr322=) rs748453607 0.00002
NM_002691.4(POLD1):c.1464C>T (p.Asp488=) rs760263079 0.00002
NM_002691.4(POLD1):c.2427C>T (p.Tyr809=) rs775317882 0.00002
NM_002734.5(PRKAR1A):c.1134A>G (p.Ser378=) rs1001156045 0.00002
NM_002734.5(PRKAR1A):c.60C>G (p.Leu20=) rs372451862 0.00002
NM_002734.5(PRKAR1A):c.727C>A (p.Arg243=) rs770136522 0.00002
NM_002769.5(PRSS1):c.240C>T (p.Val80=) rs772622287 0.00002
NM_002834.5(PTPN11):c.327T>G (p.Ser109=) rs1039250039 0.00002
NM_002878.4(RAD51D):c.792C>G (p.Leu264=) rs536544621 0.00002
NM_002878.4(RAD51D):c.966A>G (p.Thr322=) rs786203299 0.00002
NM_002880.4(RAF1):c.1431T>C (p.His477=) rs770034641 0.00002
NM_002880.4(RAF1):c.1608C>T (p.Ile536=) rs542779722 0.00002
NM_002880.4(RAF1):c.934G>A (p.Val312Met) rs555034652 0.00002
NM_003036.4(SKI):c.762C>T (p.Tyr254=) rs56352201 0.00002
NM_003119.4(SPG7):c.423G>T (p.Arg141=) rs777943597 0.00002
NM_003476.5(CSRP3):c.252G>A (p.Thr84=) rs755614464 0.00002
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053 0.00002
NM_004006.3(DMD):c.1603-11C>T rs370463654 0.00002
NM_004006.3(DMD):c.3327T>C (p.Asn1109=) rs775591219 0.00002
NM_004006.3(DMD):c.6072T>C (p.Cys2024=) rs373804251 0.00002
NM_004100.5(EYA4):c.348G>A (p.Ala116=) rs373496105 0.00002
NM_004329.3(BMPR1A):c.12A>G (p.Leu4=) rs772729006 0.00002
NM_004329.3(BMPR1A):c.1368A>G (p.Pro456=) rs864622447 0.00002
NM_004329.3(BMPR1A):c.1569G>A (p.Lys523=) rs876659703 0.00002
NM_004329.3(BMPR1A):c.765C>T (p.Gly255=) rs786201114 0.00002
NM_004333.6(BRAF):c.1023A>G (p.Pro341=) rs56092510 0.00002
NM_004341.5(CAD):c.1547G>A (p.Arg516Gln) rs772639350 0.00002
NM_004360.5(CDH1):c.1119G>A (p.Pro373=) rs758258272 0.00002
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile) rs570930882 0.00002
NM_004360.5(CDH1):c.1488C>T (p.Ser496=) rs751346548 0.00002
NM_004360.5(CDH1):c.1977G>A (p.Glu659=) rs368243190 0.00002
NM_004360.5(CDH1):c.2103C>T (p.Val701=) rs730881656 0.00002
NM_004360.5(CDH1):c.2157T>G (p.Ala719=) rs762224244 0.00002
NM_004360.5(CDH1):c.2355C>T (p.Asn785=) rs375988871 0.00002
NM_004360.5(CDH1):c.378G>A (p.Pro126=) rs786201504 0.00002
NM_004360.5(CDH1):c.906C>T (p.Tyr302=) rs370197479 0.00002
NM_004415.4(DSP):c.2046C>T (p.Cys682=) rs771674559 0.00002
NM_004415.4(DSP):c.8394T>A (p.Thr2798=) rs775346694 0.00002
NM_004565.3(PEX14):c.824C>T (p.Ser275Leu) rs727504081 0.00002
NM_004655.4(AXIN2):c.1827C>T (p.Pro609=) rs747605090 0.00002
NM_004655.4(AXIN2):c.711C>T (p.Ala237=) rs768230770 0.00002
NM_005188.4(CBL):c.2235C>T (p.Thr745=) rs763880494 0.00002
NM_005343.4(HRAS):c.*1C>T rs730880327 0.00002
NM_005343.4(HRAS):c.45C>T (p.Gly15=) rs727504614 0.00002
NM_005359.6(SMAD4):c.471G>A (p.Met157Ile) rs780716382 0.00002
NM_005359.6(SMAD4):c.9T>C (p.Asn3=) rs762273127 0.00002
NM_005629.4(SLC6A8):c.144C>T (p.Ala48=) rs782232933 0.00002
NM_005633.4(SOS1):c.1008A>G (p.Gln336=) rs1320092319 0.00002
NM_005633.4(SOS1):c.1251A>C (p.Leu417=) rs144027132 0.00002
NM_005633.4(SOS1):c.396A>T (p.Ala132=) rs727505385 0.00002
NM_005732.4(RAD50):c.2445G>A (p.Lys815=) rs183510397 0.00002
NM_005751.5(AKAP9):c.6046C>T (p.Arg2016Cys) rs376950905 0.00002
NM_006231.4(POLE):c.3698G>A (p.Arg1233Gln) rs201738371 0.00002
NM_006258.4(PRKG1):c.1101C>T (p.Phe367=) rs752325371 0.00002
NM_006506.5(RASA2):c.1216C>T (p.Leu406=) rs146956359 0.00002
NM_006506.5(RASA2):c.255A>G (p.Pro85=) rs768464571 0.00002
NM_006767.4(LZTR1):c.1616-14G>T rs899072517 0.00002
NM_006767.4(LZTR1):c.1985C>T (p.Ala662Val) rs200248773 0.00002
NM_006767.4(LZTR1):c.2265G>T (p.Arg755=) rs370009707 0.00002
NM_006796.3(AFG3L2):c.1164+18C>T rs563588444 0.00002
NM_007194.4(CHEK2):c.1203T>C (p.Thr401=) rs560781587 0.00002
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379 0.00002
NM_007294.4(BRCA1):c.1731A>G (p.Glu577=) rs28897678 0.00002
NM_007294.4(BRCA1):c.19C>T (p.Arg7Cys) rs80356994 0.00002
NM_007294.4(BRCA1):c.2334C>T (p.Gly778=) rs777404687 0.00002
NM_007294.4(BRCA1):c.2625A>G (p.Pro875=) rs754222140 0.00002
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=) rs786201784 0.00002
NM_007294.4(BRCA1):c.3130A>G (p.Ile1044Val) rs80357271 0.00002
NM_007294.4(BRCA1):c.3238T>C (p.Leu1080=) rs754597283 0.00002
NM_007294.4(BRCA1):c.3588A>G (p.Thr1196=) rs876658595 0.00002
NM_007294.4(BRCA1):c.3636A>G (p.Ser1212=) rs148038877 0.00002
NM_007294.4(BRCA1):c.3699A>G (p.Lys1233=) rs368690455 0.00002
NM_007294.4(BRCA1):c.4050C>T (p.Gly1350=) rs779507799 0.00002
NM_007294.4(BRCA1):c.4097-11T>C rs80358072 0.00002
NM_007294.4(BRCA1):c.4245A>G (p.Glu1415=) rs41293453 0.00002
NM_007294.4(BRCA1):c.4675+11A>G rs750095985 0.00002
NM_007294.4(BRCA1):c.4676-7C>T rs80358005 0.00002
NM_007294.4(BRCA1):c.4987-4T>G rs1157151499 0.00002
NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met) rs80357169 0.00002
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239 0.00002
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln) rs80357264 0.00002
NM_007294.4(BRCA1):c.5153-6C>A rs80358129 0.00002
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=) rs191373374 0.00002
NM_007294.4(BRCA1):c.522A>G (p.Gln174=) rs765432756 0.00002
NM_007294.4(BRCA1):c.5277+20G>A rs766950602 0.00002
NM_007294.4(BRCA1):c.5328C>T (p.Pro1776=) rs759867616 0.00002
NM_007294.4(BRCA1):c.5334T>C (p.Asp1778=) rs754152768 0.00002
NM_007294.4(BRCA1):c.594-15G>C rs80358102 0.00002
NM_015141.4(GPD1L):c.691C>T (p.Arg231Cys) rs143486835 0.00002
NM_016169.4(SUFU):c.807C>T (p.Val269=) rs919110211 0.00002
NM_017563.5(IL17RD):c.2208C>T (p.Val736=) rs546132688 0.00002
NM_017780.4(CHD7):c.2824A>G (p.Thr942Ala) rs370194460 0.00002
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) rs554647169 0.00002
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821 0.00002
NM_020297.4(ABCC9):c.2004G>A (p.Glu668=) rs751485829 0.00002
NM_020631.6(PLEKHG5):c.440-11C>T rs747418024 0.00002
NM_020778.5(ALPK3):c.4093+15C>T rs771455330 0.00002
NM_020975.6(RET):c.342C>T (p.Arg114=) rs143083395 0.00002
NM_020975.6(RET):c.777G>A (p.Pro259=) rs1279646689 0.00002
NM_021871.4(FGA):c.904C>G (p.Pro302Ala) rs200203992 0.00002
NM_022081.6(HPS4):c.1640G>C (p.Cys547Ser) rs145674158 0.00002
NM_022436.3(ABCG5):c.282G>A (p.Thr94=) rs756339433 0.00002
NM_024312.5(GNPTAB):c.954C>T (p.Ile318=) rs150451045 0.00002
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala) rs182351748 0.00002
NM_024334.3(TMEM43):c.747C>T (p.Ser249=) rs549809535 0.00002
NM_024334.3(TMEM43):c.829A>T (p.Thr277Ser) rs532872056 0.00002
NM_024422.6(DSC2):c.1875G>C (p.Leu625=) rs142594406 0.00002
NM_024675.4(PALB2):c.149A>C (p.Lys50Thr) rs763598472 0.00002
NM_024675.4(PALB2):c.1599T>C (p.Thr533=) rs786201088 0.00002
NM_024675.4(PALB2):c.1767G>A (p.Thr589=) rs769849072 0.00002
NM_024675.4(PALB2):c.2418G>A (p.Pro806=) rs577076372 0.00002
NM_024675.4(PALB2):c.3432C>T (p.Leu1144=) rs748363227 0.00002
NM_030662.4(MAP2K2):c.1197C>T (p.Ala399=) rs987393686 0.00002
NM_030662.4(MAP2K2):c.39C>T (p.Thr13=) rs752951050 0.00002
NM_030662.4(MAP2K2):c.474G>A (p.Val158=) rs370736371 0.00002
NM_030777.4(SLC2A10):c.915C>T (p.Ala305=) rs199975775 0.00002
NM_030928.4(CDT1):c.1389C>T (p.Ser463=) rs142465113 0.00002
NM_032043.3(BRIP1):c.2751T>C (p.Ser917=) rs150780318 0.00002
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly) rs4988356 0.00002
NM_032043.3(BRIP1):c.2893A>C (p.Arg965=) rs113697814 0.00002
NM_032043.3(BRIP1):c.924A>G (p.Lys308=) rs374974885 0.00002
NM_032043.3(BRIP1):c.94-4A>G rs765154059 0.00002
NM_033118.4(MYLK2):c.1424+20G>A rs375290219 0.00002
NM_053025.4(MYLK):c.2835G>A (p.Val945=) rs773308800 0.00002
NM_053025.4(MYLK):c.348G>A (p.Gln116=) rs1275647065 0.00002
NM_053025.4(MYLK):c.3528T>C (p.Ala1176=) rs766180911 0.00002
NM_053025.4(MYLK):c.435A>C (p.Ser145=) rs747805468 0.00002
NM_053025.4(MYLK):c.4812C>T (p.Ile1604=) rs138822291 0.00002
NM_053025.4(MYLK):c.717G>A (p.Ser239=) rs146960026 0.00002
NM_054012.4(ASS1):c.294C>T (p.Ile98=) rs183370361 0.00002
NM_058216.3(RAD51C):c.453G>A (p.Val151=) rs45553636 0.00002
NM_058216.3(RAD51C):c.948T>C (p.His316=) rs773196250 0.00002
NM_138694.4(PKHD1):c.10968A>G (p.Glu3656=) rs1303599332 0.00002
NM_138694.4(PKHD1):c.9075C>T (p.Gly3025=) rs200466480 0.00002
NM_139076.3(ABRAXAS1):c.1077A>G (p.Arg359=) rs929635919 0.00002
NM_139076.3(ABRAXAS1):c.144C>T (p.Ser48=) rs763350470 0.00002
NM_139276.3(STAT3):c.2050G>C (p.Gly684Arg) rs780466766 0.00002
NM_144670.6(A2ML1):c.2310T>C (p.Thr770=) rs370481255 0.00002
NM_152296.5(ATP1A3):c.2973C>T (p.Tyr991=) rs372919447 0.00002
NM_170707.4(LMNA):c.1071C>T (p.Asp357=) rs376875762 0.00002
NM_201596.3(CACNB2):c.1260C>T (p.Asn420=) rs931370978 0.00002
NM_000016.6(ACADM):c.610T>C (p.Leu204=) rs776993753 0.00001
NM_000038.6(APC):c.1050T>G (p.Ser350=) rs760345157 0.00001
NM_000038.6(APC):c.2280A>G (p.Leu760=) rs767947015 0.00001
NM_000038.6(APC):c.228C>T (p.Asn76=) rs766325173 0.00001
NM_000038.6(APC):c.2613A>C (p.Gly871=) rs36046448 0.00001
NM_000038.6(APC):c.2745G>A (p.Val915=) rs761286097 0.00001
NM_000038.6(APC):c.2860T>C (p.Leu954=) rs863224278 0.00001
NM_000038.6(APC):c.2952A>G (p.Glu984=) rs772562489 0.00001
NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) rs149353082 0.00001
NM_000038.6(APC):c.3555A>G (p.Thr1185=) rs786201125 0.00001
NM_000038.6(APC):c.372A>G (p.Val124=) rs749179034 0.00001
NM_000038.6(APC):c.3909A>G (p.Gln1303=) rs746289994 0.00001
NM_000038.6(APC):c.4119T>A (p.Pro1373=) rs1248565162 0.00001
NM_000038.6(APC):c.4341A>G (p.Gln1447=) rs777153373 0.00001
NM_000038.6(APC):c.4443T>C (p.Val1481=) rs1241257709 0.00001
NM_000038.6(APC):c.4686C>T (p.Asp1562=) rs72541812 0.00001
NM_000038.6(APC):c.4919G>A (p.Arg1640Gln) rs529480958 0.00001
NM_000038.6(APC):c.5304G>A (p.Lys1768=) rs863224285 0.00001
NM_000038.6(APC):c.5376T>C (p.Asn1792=) rs76364845 0.00001
NM_000038.6(APC):c.5559T>C (p.Pro1853=) rs1407859071 0.00001
NM_000038.6(APC):c.565T>C (p.Leu189=) rs762146761 0.00001
NM_000038.6(APC):c.5670A>G (p.Ser1890=) rs945185629 0.00001
NM_000038.6(APC):c.5784G>A (p.Gln1928=) rs761186363 0.00001
NM_000038.6(APC):c.582G>A (p.Arg194=) rs864622103 0.00001
NM_000038.6(APC):c.5952T>C (p.Asn1984=) rs142019870 0.00001
NM_000038.6(APC):c.5976C>A (p.Pro1992=) rs768878237 0.00001
NM_000038.6(APC):c.6366A>T (p.Ala2122=) rs370948574 0.00001
NM_000038.6(APC):c.6492C>T (p.Gly2164=) rs765332758 0.00001
NM_000038.6(APC):c.6675T>C (p.Ser2225=) rs950337714 0.00001
NM_000038.6(APC):c.7479A>G (p.Leu2493=) rs775954189 0.00001
NM_000038.6(APC):c.771T>C (p.Ala257=) rs1554076169 0.00001
NM_000038.6(APC):c.8008A>C (p.Arg2670=) rs756875223 0.00001
NM_000038.6(APC):c.8100T>C (p.Asn2700=) rs761326128 0.00001
NM_000051.4(ATM):c.138T>C (p.His46=) rs770834907 0.00001
NM_000051.4(ATM):c.1608-8T>C rs201110707 0.00001
NM_000051.4(ATM):c.1695A>G (p.Glu565=) rs780932013 0.00001
NM_000051.4(ATM):c.1758G>A (p.Glu586=) rs1555072017 0.00001
NM_000051.4(ATM):c.2238C>T (p.Phe746=) rs786203595 0.00001
NM_000051.4(ATM):c.2373C>T (p.Thr791=) rs878853494 0.00001
NM_000051.4(ATM):c.2577C>T (p.Asn859=) rs730881286 0.00001
NM_000051.4(ATM):c.2598T>G (p.Val866=) rs730881350 0.00001
NM_000051.4(ATM):c.2934T>G (p.Ser978=) rs368678134 0.00001
NM_000051.4(ATM):c.3303G>A (p.Lys1101=) rs925487325 0.00001
NM_000051.4(ATM):c.3432G>A (p.Leu1144=) rs1060501625 0.00001
NM_000051.4(ATM):c.4056T>C (p.His1352=) rs587780622 0.00001
NM_000051.4(ATM):c.4071T>C (p.Ser1357=) rs767516955 0.00001
NM_000051.4(ATM):c.411C>T (p.Tyr137=) rs756160533 0.00001
NM_000051.4(ATM):c.4149G>A (p.Ser1383=) rs749180334 0.00001
NM_000051.4(ATM):c.4236+8T>C rs765636697 0.00001
NM_000051.4(ATM):c.42A>G (p.Gln14=) rs771378101 0.00001
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg) rs527471560 0.00001
NM_000051.4(ATM):c.4401C>T (p.Asp1467=) rs876660356 0.00001
NM_000051.4(ATM):c.4492T>C (p.Leu1498=) rs748949478 0.00001
NM_000051.4(ATM):c.5005+9C>T rs730881291 0.00001
NM_000051.4(ATM):c.5055C>T (p.Thr1685=) rs587780551 0.00001
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr) rs199836342 0.00001
NM_000051.4(ATM):c.507T>C (p.Ser169=) rs758619186 0.00001
NM_000051.4(ATM):c.5310A>G (p.Ser1770=) rs1060504282 0.00001
NM_000051.4(ATM):c.5488A>G (p.Met1830Val) rs587781622 0.00001
NM_000051.4(ATM):c.5595T>C (p.His1865=) rs772261410 0.00001
NM_000051.4(ATM):c.5634G>A (p.Ser1878=) rs767070325 0.00001
NM_000051.4(ATM):c.5661A>G (p.Ala1887=) rs876658939 0.00001
NM_000051.4(ATM):c.6006+8T>C rs56019194 0.00001
NM_000051.4(ATM):c.6095+8G>T rs547072690 0.00001
NM_000051.4(ATM):c.6250T>C (p.Leu2084=) rs772608345 0.00001
NM_000051.4(ATM):c.6558G>A (p.Gly2186=) rs1555117263 0.00001
NM_000051.4(ATM):c.6572+4T>C rs587780636 0.00001
NM_000051.4(ATM):c.6700C>T (p.Leu2234=) rs760602228 0.00001
NM_000051.4(ATM):c.6846T>C (p.Asn2282=) rs541718119 0.00001
NM_000051.4(ATM):c.6925C>T (p.Leu2309=) rs763839047 0.00001
NM_000051.4(ATM):c.6966C>T (p.Ser2322=) rs864622593 0.00001
NM_000051.4(ATM):c.702A>G (p.Ala234=) rs752751588 0.00001
NM_000051.4(ATM):c.7116T>C (p.Asp2372=) rs3218675 0.00001
NM_000051.4(ATM):c.7383C>T (p.Arg2461=) rs1429991894 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_000051.4(ATM):c.7566A>G (p.Gln2522=) rs775621333 0.00001
NM_000051.4(ATM):c.8019C>T (p.His2673=) rs1181283176 0.00001
NM_000051.4(ATM):c.8109T>C (p.Asp2703=) rs201689025 0.00001
NM_000051.4(ATM):c.8178T>C (p.Ala2726=) rs367575159 0.00001
NM_000051.4(ATM):c.8217G>A (p.Leu2739=) rs759069006 0.00001
NM_000051.4(ATM):c.8229G>A (p.Thr2743=) rs150603052 0.00001
NM_000051.4(ATM):c.8355T>C (p.Asp2785=) rs372834825 0.00001
NM_000051.4(ATM):c.8385T>C (p.Asp2795=) rs1251164631 0.00001
NM_000051.4(ATM):c.8532T>C (p.Ile2844=) rs730881278 0.00001
NM_000051.4(ATM):c.8574T>C (p.Thr2858=) rs786203415 0.00001
NM_000051.4(ATM):c.858A>G (p.Gln286=) rs145301478 0.00001
NM_000051.4(ATM):c.8730C>G (p.Leu2910=) rs551041839 0.00001
NM_000051.4(ATM):c.876G>A (p.Pro292=) rs755860432 0.00001
NM_000051.4(ATM):c.8847A>G (p.Val2949=) rs876658820 0.00001
NM_000051.4(ATM):c.8850+10T>C rs762487236 0.00001
NM_000051.4(ATM):c.8922G>A (p.Pro2974=) rs527248759 0.00001
NM_000051.4(ATM):c.97C>T (p.Leu33=) rs1057522542 0.00001
NM_000052.7(ATP7A):c.1289C>T (p.Thr430Met) rs782018636 0.00001
NM_000053.4(ATP7B):c.618T>C (p.Phe206=) rs764353593 0.00001
NM_000057.4(BLM):c.1785A>T (p.Ser595=) rs79871543 0.00001
NM_000057.4(BLM):c.3585C>T (p.Ser1195=) rs1023322113 0.00001
NM_000057.4(BLM):c.711C>T (p.Cys237=) rs752961612 0.00001
NM_000059.4(BRCA2):c.-9T>C rs276174802 0.00001
NM_000059.4(BRCA2):c.10023C>T (p.Asp3341=) rs113507014 0.00001
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393 0.00001
NM_000059.4(BRCA2):c.1059A>G (p.Ser353=) rs730881585 0.00001
NM_000059.4(BRCA2):c.1124C>T (p.Pro375Leu) rs80358409 0.00001
NM_000059.4(BRCA2):c.1141G>A (p.Asp381Asn) rs398122723 0.00001
NM_000059.4(BRCA2):c.1179T>C (p.Cys393=) rs786201237 0.00001
NM_000059.4(BRCA2):c.1371G>A (p.Lys457=) rs786202479 0.00001
NM_000059.4(BRCA2):c.1452A>G (p.Val484=) rs753601570 0.00001
NM_000059.4(BRCA2):c.1554A>T (p.Ala518=) rs786201487 0.00001
NM_000059.4(BRCA2):c.1584C>T (p.Asn528=) rs730881587 0.00001
NM_000059.4(BRCA2):c.1659A>G (p.Leu553=) rs786201343 0.00001
NM_000059.4(BRCA2):c.180C>T (p.Asn60=) rs1131692130 0.00001
NM_000059.4(BRCA2):c.1818G>A (p.Pro606=) rs76844014 0.00001
NM_000059.4(BRCA2):c.2004G>A (p.Arg668=) rs755049218 0.00001
NM_000059.4(BRCA2):c.2133C>T (p.Cys711=) rs535547513 0.00001
NM_000059.4(BRCA2):c.2332G>A (p.Val778Ile) rs587779360 0.00001
NM_000059.4(BRCA2):c.2429C>T (p.Thr810Ile) rs80358509 0.00001
NM_000059.4(BRCA2):c.2547A>G (p.Val849=) rs1321983932 0.00001
NM_000059.4(BRCA2):c.2601T>G (p.Thr867=) rs730881589 0.00001
NM_000059.4(BRCA2):c.2739C>T (p.Asp913=) rs276174829 0.00001
NM_000059.4(BRCA2):c.2754C>T (p.Asn918=) rs753073979 0.00001
NM_000059.4(BRCA2):c.2817C>T (p.Thr939=) rs367921107 0.00001
NM_000059.4(BRCA2):c.3111A>G (p.Gln1037=) rs786202967 0.00001
NM_000059.4(BRCA2):c.317-10A>G rs81002824 0.00001
NM_000059.4(BRCA2):c.324T>C (p.Asn108=) rs772010158 0.00001
NM_000059.4(BRCA2):c.3309A>G (p.Leu1103=) rs786203980 0.00001
NM_000059.4(BRCA2):c.3326C>T (p.Ala1109Val) rs41293479 0.00001
NM_000059.4(BRCA2):c.3552T>C (p.Gly1184=) rs1456426299 0.00001
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=) rs587780650 0.00001
NM_000059.4(BRCA2):c.3675A>G (p.Thr1225=) rs276174835 0.00001
NM_000059.4(BRCA2):c.3693T>C (p.Thr1231=) rs751232859 0.00001
NM_000059.4(BRCA2):c.3717A>G (p.Lys1239=) rs141196976 0.00001
NM_000059.4(BRCA2):c.3720G>A (p.Leu1240=) rs773240495 0.00001
NM_000059.4(BRCA2):c.378A>G (p.Gln126=) rs786201593 0.00001
NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val) rs80358624 0.00001
NM_000059.4(BRCA2):c.3874C>T (p.Leu1292=) rs587780867 0.00001
NM_000059.4(BRCA2):c.4023A>C (p.Ser1341=) rs276174840 0.00001
NM_000059.4(BRCA2):c.4046T>C (p.Ile1349Thr) rs80358654 0.00001
NM_000059.4(BRCA2):c.4137G>A (p.Gln1379=) rs768918982 0.00001
NM_000059.4(BRCA2):c.4179G>A (p.Ala1393=) rs770531115 0.00001
NM_000059.4(BRCA2):c.4242G>T (p.Thr1414=) rs750495335 0.00001
NM_000059.4(BRCA2):c.4271C>G (p.Ser1424Cys) rs80358664 0.00001
NM_000059.4(BRCA2):c.4376A>G (p.Asn1459Ser) rs117187202 0.00001
NM_000059.4(BRCA2):c.438A>G (p.Leu146=) rs200942633 0.00001
NM_000059.4(BRCA2):c.441A>G (p.Gln147=) rs80358676 0.00001
NM_000059.4(BRCA2):c.4443G>A (p.Glu1481=) rs876659618 0.00001
NM_000059.4(BRCA2):c.4494T>A (p.Gly1498=) rs373160367 0.00001
NM_000059.4(BRCA2):c.4561C>T (p.Leu1521=) rs370723514 0.00001
NM_000059.4(BRCA2):c.459A>G (p.Pro153=) rs786201631 0.00001
NM_000059.4(BRCA2):c.4698C>T (p.Thr1566=) rs750813972 0.00001
NM_000059.4(BRCA2):c.4699C>T (p.Leu1567=) rs146514381 0.00001
NM_000059.4(BRCA2):c.4718G>A (p.Cys1573Tyr) rs56249050 0.00001
NM_000059.4(BRCA2):c.4725C>T (p.Asp1575=) rs752402938 0.00001
NM_000059.4(BRCA2):c.4803T>C (p.Asp1601=) rs772234613 0.00001
NM_000059.4(BRCA2):c.4833G>A (p.Val1611=) rs1057521872 0.00001
NM_000059.4(BRCA2):c.4858T>C (p.Leu1620=) rs528771743 0.00001
NM_000059.4(BRCA2):c.4881C>G (p.Leu1627=) rs756104738 0.00001
NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=) rs762458631 0.00001
NM_000059.4(BRCA2):c.5217T>C (p.Tyr1739=) rs80358746 0.00001
NM_000059.4(BRCA2):c.5278T>G (p.Ser1760Ala) rs28897735 0.00001
NM_000059.4(BRCA2):c.5289C>T (p.Leu1763=) rs763052573 0.00001
NM_000059.4(BRCA2):c.5379T>C (p.Asn1793=) rs146917776 0.00001
NM_000059.4(BRCA2):c.5529A>C (p.Ala1843=) rs372951842 0.00001
NM_000059.4(BRCA2):c.5652T>C (p.Ile1884=) rs766067138 0.00001
NM_000059.4(BRCA2):c.5723T>C (p.Leu1908Pro) rs80358797 0.00001
NM_000059.4(BRCA2):c.5730T>C (p.Asn1910=) rs1555284381 0.00001
NM_000059.4(BRCA2):c.5745G>A (p.Thr1915=) rs1799953 0.00001
NM_000059.4(BRCA2):c.5880T>C (p.Cys1960=) rs368055906 0.00001
NM_000059.4(BRCA2):c.5928G>T (p.Gly1976=) rs752858082 0.00001
NM_000059.4(BRCA2):c.5973T>G (p.Ala1991=) rs876660687 0.00001
NM_000059.4(BRCA2):c.5979A>G (p.Leu1993=) rs773999877 0.00001
NM_000059.4(BRCA2):c.5988A>G (p.Ala1996=) rs773045221 0.00001
NM_000059.4(BRCA2):c.599C>T (p.Thr200Ile) rs587781402 0.00001
NM_000059.4(BRCA2):c.6012A>G (p.Glu2004=) rs572976024 0.00001
NM_000059.4(BRCA2):c.606C>T (p.Pro202=) rs747726394 0.00001
NM_000059.4(BRCA2):c.6189A>G (p.Gly2063=) rs1367271077 0.00001
NM_000059.4(BRCA2):c.6231G>C (p.Lys2077Asn) rs541826447 0.00001
NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=) rs750651726 0.00001
NM_000059.4(BRCA2):c.6288T>G (p.Pro2096=) rs372527810 0.00001
NM_000059.4(BRCA2):c.6327T>C (p.Val2109=) rs876660313 0.00001
NM_000059.4(BRCA2):c.636A>G (p.Arg212=) rs950724350 0.00001
NM_000059.4(BRCA2):c.6531T>A (p.Ile2177=) rs587780658 0.00001
NM_000059.4(BRCA2):c.6543A>T (p.Gly2181=) rs1131692121 0.00001
NM_000059.4(BRCA2):c.6567C>T (p.Asn2189=) rs397507374 0.00001
NM_000059.4(BRCA2):c.6582T>C (p.Ile2194=) rs1178835711 0.00001
NM_000059.4(BRCA2):c.6675A>G (p.Thr2225=) rs28897741 0.00001
NM_000059.4(BRCA2):c.6750A>C (p.Thr2250=) rs864622449 0.00001
NM_000059.4(BRCA2):c.6756T>C (p.Ser2252=) rs1057521324 0.00001
NM_000059.4(BRCA2):c.6765A>G (p.Thr2255=) rs759293475 0.00001
NM_000059.4(BRCA2):c.68-16T>A rs397507882 0.00001
NM_000059.4(BRCA2):c.6842-19A>G rs81002865 0.00001
NM_000059.4(BRCA2):c.6868T>C (p.Leu2290=) rs876660341 0.00001
NM_000059.4(BRCA2):c.7096C>G (p.Leu2366Val) rs80358941 0.00001
NM_000059.4(BRCA2):c.7182A>G (p.Arg2394=) rs80359797 0.00001
NM_000059.4(BRCA2):c.7404A>C (p.Val2468=) rs747117261 0.00001
NM_000059.4(BRCA2):c.7436-4A>G rs81002904 0.00001
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys) rs80358968 0.00001
NM_000059.4(BRCA2):c.7481G>A (p.Arg2494Gln) rs80358973 0.00001
NM_000059.4(BRCA2):c.7509C>G (p.Val2503=) rs766080516 0.00001
NM_000059.4(BRCA2):c.7521A>G (p.Pro2507=) rs759383358 0.00001
NM_000059.4(BRCA2):c.7602G>A (p.Ala2534=) rs81002826 0.00001
NM_000059.4(BRCA2):c.7638T>C (p.Ser2546=) rs786202346 0.00001
NM_000059.4(BRCA2):c.7644T>C (p.His2548=) rs971280622 0.00001
NM_000059.4(BRCA2):c.765C>T (p.Asn255=) rs1052409683 0.00001
NM_000059.4(BRCA2):c.7671A>G (p.Ala2557=) rs1057524178 0.00001
NM_000059.4(BRCA2):c.7683G>A (p.Gln2561=) rs786201304 0.00001
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340 0.00001
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly) rs80359018 0.00001
NM_000059.4(BRCA2):c.793+18T>C rs567889781 0.00001
NM_000059.4(BRCA2):c.7977-14G>A rs879255467 0.00001
NM_000059.4(BRCA2):c.7977-15T>G rs431825361 0.00001
NM_000059.4(BRCA2):c.8014A>G (p.Ile2672Val) rs80359037 0.00001
NM_000059.4(BRCA2):c.8061T>C (p.Val2687=) rs776992904 0.00001
NM_000059.4(BRCA2):c.8086T>C (p.Leu2696=) rs767912817 0.00001
NM_000059.4(BRCA2):c.8091C>T (p.Ser2697=) rs140782158 0.00001
NM_000059.4(BRCA2):c.8103T>G (p.Ser2701=) rs80359801 0.00001
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser) rs80359055 0.00001
NM_000059.4(BRCA2):c.8118T>C (p.Asn2706=) rs758549180 0.00001
NM_000059.4(BRCA2):c.8124T>G (p.Thr2708=) rs587780662 0.00001
NM_000059.4(BRCA2):c.8265A>T (p.Gly2755=) rs781363913 0.00001
NM_000059.4(BRCA2):c.8298A>G (p.Thr2766=) rs730881594 0.00001
NM_000059.4(BRCA2):c.8352G>T (p.Arg2784=) rs747664806 0.00001
NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr) rs80359077 0.00001
NM_000059.4(BRCA2):c.8359C>T (p.Arg2787Cys) rs41293517 0.00001
NM_000059.4(BRCA2):c.8417C>T (p.Ser2806Leu) rs587782785 0.00001
NM_000059.4(BRCA2):c.8545A>G (p.Lys2849Glu) rs80359109 0.00001
NM_000059.4(BRCA2):c.856T>C (p.Ser286Pro) rs80359111 0.00001
NM_000059.4(BRCA2):c.8647C>T (p.Pro2883Ser) rs80359122 0.00001
NM_000059.4(BRCA2):c.8667A>G (p.Ala2889=) rs786203480 0.00001
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile) rs80359127 0.00001
NM_000059.4(BRCA2):c.8715T>C (p.Tyr2905=) rs45555831 0.00001
NM_000059.4(BRCA2):c.8755-12A>G rs863224317 0.00001
NM_000059.4(BRCA2):c.8893G>C (p.Asp2965His) rs80359141 0.00001
NM_000059.4(BRCA2):c.8904C>T (p.Thr2968=) rs41293519 0.00001
NM_000059.4(BRCA2):c.8979A>C (p.Ser2993=) rs781452016 0.00001
NM_000059.4(BRCA2):c.8997G>A (p.Leu2999=) rs80359804 0.00001
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu) rs80359159 0.00001
NM_000059.4(BRCA2):c.918T>C (p.Asp306=) rs184408918 0.00001
NM_000059.4(BRCA2):c.9222A>G (p.Leu3074=) rs200635661 0.00001
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala) rs80359189 0.00001
NM_000059.4(BRCA2):c.9257-18C>A rs81002807 0.00001
NM_000059.4(BRCA2):c.927A>G (p.Ser309=) rs80359806 0.00001
NM_000059.4(BRCA2):c.9301C>T (p.Leu3101=) rs80359202 0.00001
NM_000059.4(BRCA2):c.9321A>C (p.Ile3107=) rs876658703 0.00001
NM_000059.4(BRCA2):c.9396A>G (p.Lys3132=) rs201172050 0.00001
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu) rs587776476 0.00001
NM_000059.4(BRCA2):c.9501+16A>C rs1555289626 0.00001
NM_000059.4(BRCA2):c.963A>G (p.Gln321=) rs276174927 0.00001
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640 0.00001
NM_000059.4(BRCA2):c.9687T>A (p.Pro3229=) rs946380047 0.00001
NM_000059.4(BRCA2):c.9735A>G (p.Ser3245=) rs773112850 0.00001
NM_000059.4(BRCA2):c.9837A>G (p.Leu3279=) rs730881598 0.00001
NM_000059.4(BRCA2):c.9864A>G (p.Thr3288=) rs778401681 0.00001
NM_000059.4(BRCA2):c.987G>A (p.Arg329=) rs561002197 0.00001
NM_000059.4(BRCA2):c.9972A>G (p.Pro3324=) rs786201647 0.00001
NM_000075.4(CDK4):c.222G>A (p.Leu74=) rs565645344 0.00001
NM_000075.4(CDK4):c.481C>T (p.Leu161=) rs796860515 0.00001
NM_000075.4(CDK4):c.519C>T (p.Pro173=) rs747084709 0.00001
NM_000075.4(CDK4):c.645T>C (p.Cys215=) rs751861614 0.00001
NM_000075.4(CDK4):c.777G>A (p.Ser259=) rs3211622 0.00001
NM_000075.4(CDK4):c.801G>A (p.Ser267=) rs201744062 0.00001
NM_000077.5(CDKN2A):c.258C>T (p.Ala86=) rs1001405220 0.00001
NM_000077.5(CDKN2A):c.402G>T (p.Ala134=) rs878853649 0.00001
NM_000088.4(COL1A1):c.945C>T (p.Ala315=) rs780242725 0.00001
NM_000090.4(COL3A1):c.1557A>C (p.Gly519=) rs754318905 0.00001
NM_000090.4(COL3A1):c.1864C>T (p.Pro622Ser) rs772638774 0.00001
NM_000090.4(COL3A1):c.2048G>A (p.Arg683His) rs753162027 0.00001
NM_000090.4(COL3A1):c.2607+10G>A rs367789349 0.00001
NM_000090.4(COL3A1):c.2766A>G (p.Pro922=) rs915948354 0.00001
NM_000090.4(COL3A1):c.289C>T (p.Arg97Cys) rs768671254 0.00001
NM_000090.4(COL3A1):c.303T>C (p.Gly101=) rs1688040630 0.00001
NM_000093.5(COL5A1):c.2784G>A (p.Gly928=) rs774491536 0.00001
NM_000093.5(COL5A1):c.4392+16C>T rs763448522 0.00001
NM_000093.5(COL5A1):c.849C>T (p.Pro283=) rs761805821 0.00001
NM_000101.4(CYBA):c.433G>A (p.Gly145Arg) rs576565258 0.00001
NM_000116.5(TAFAZZIN):c.634C>T (p.Leu212=) rs587781186 0.00001
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790 0.00001
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) rs529199293 0.00001
NM_000138.5(FBN1):c.1731C>T (p.Ser577=) rs1453708754 0.00001
NM_000138.5(FBN1):c.174C>A (p.Val58=) rs369096927 0.00001
NM_000138.5(FBN1):c.2433C>T (p.Cys811=) rs193921256 0.00001
NM_000138.5(FBN1):c.2598C>T (p.Ile866=) rs752457534 0.00001
NM_000138.5(FBN1):c.2628C>T (p.Cys876=) rs112085967 0.00001
NM_000138.5(FBN1):c.2748G>A (p.Val916=) rs1339922695 0.00001
NM_000138.5(FBN1):c.3021G>A (p.Leu1007=) rs764203356 0.00001
NM_000138.5(FBN1):c.3570C>T (p.Pro1190=) rs188317014 0.00001
NM_000138.5(FBN1):c.393C>T (p.Asp131=) rs549054625 0.00001
NM_000138.5(FBN1):c.4527T>C (p.Tyr1509=) rs776021250 0.00001
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=) rs397515813 0.00001
NM_000138.5(FBN1):c.5340A>C (p.Gly1780=) rs766501385 0.00001
NM_000138.5(FBN1):c.5430C>T (p.Asp1810=) rs765338162 0.00001
NM_000138.5(FBN1):c.5481T>G (p.Thr1827=) rs1261752884 0.00001
NM_000138.5(FBN1):c.6402C>T (p.Pro2134=) rs772439885 0.00001
NM_000138.5(FBN1):c.6417T>C (p.His2139=) rs551162566 0.00001
NM_000138.5(FBN1):c.6497-12G>C rs369726558 0.00001
NM_000138.5(FBN1):c.6768T>C (p.His2256=) rs1047633779 0.00001
NM_000138.5(FBN1):c.6969C>T (p.Thr2323=) rs773655866 0.00001
NM_000138.5(FBN1):c.7521C>T (p.Phe2507=) rs111895751 0.00001
NM_000138.5(FBN1):c.7559C>T (p.Thr2520Met) rs763759308 0.00001
NM_000138.5(FBN1):c.762C>T (p.Pro254=) rs374318726 0.00001
NM_000138.5(FBN1):c.7839C>T (p.Ser2613=) rs193922238 0.00001
NM_000138.5(FBN1):c.8199A>T (p.Thr2733=) rs1372383251 0.00001
NM_000138.5(FBN1):c.8466A>G (p.Pro2822=) rs147279938 0.00001
NM_000152.5(GAA):c.1485C>T (p.Ala495=) rs765596792 0.00001
NM_000155.4(GALT):c.1017C>T (p.Tyr339=) rs759417724 0.00001
NM_000155.4(GALT):c.390C>T (p.Cys130=) rs1410761611 0.00001
NM_000155.4(GALT):c.678A>G (p.Leu226=) rs777577533 0.00001
NM_000155.4(GALT):c.762G>A (p.Leu254=) rs748639317 0.00001
NM_000157.4(GBA1):c.1515G>A (p.Lys505=) rs767373402 0.00001
NM_000165.5(GJA1):c.15C>T (p.Ser5=) rs758641783 0.00001
NM_000169.3(GLA):c.1050T>C (p.Ala350=) rs869312210 0.00001
NM_000169.3(GLA):c.1233C>T (p.Gly411=) rs1555984746 0.00001
NM_000179.3(MSH6):c.111C>T (p.Ala37=) rs1011670864 0.00001
NM_000179.3(MSH6):c.1132A>C (p.Arg378=) rs781572949 0.00001
NM_000179.3(MSH6):c.1170T>C (p.Asp390=) rs55882234 0.00001
NM_000179.3(MSH6):c.1176T>C (p.Asp392=) rs587779912 0.00001
NM_000179.3(MSH6):c.1209C>G (p.Leu403=) rs748603803 0.00001
NM_000179.3(MSH6):c.1275C>A (p.Ile425=) rs786203122 0.00001
NM_000179.3(MSH6):c.1395A>G (p.Ala465=) rs1057520322 0.00001
NM_000179.3(MSH6):c.1403G>A (p.Arg468His) rs41295268 0.00001
NM_000179.3(MSH6):c.1587T>G (p.Gly529=) rs764396869 0.00001
NM_000179.3(MSH6):c.1698A>C (p.Gly566=) rs764818222 0.00001
NM_000179.3(MSH6):c.1740G>A (p.Ser580=) rs762089407 0.00001
NM_000179.3(MSH6):c.1776A>T (p.Val592=) rs56132616 0.00001
NM_000179.3(MSH6):c.1983T>C (p.Gly661=) rs1411415960 0.00001
NM_000179.3(MSH6):c.2154C>T (p.Ser718=) rs771662801 0.00001
NM_000179.3(MSH6):c.2391C>T (p.Asp797=) rs754870044 0.00001
NM_000179.3(MSH6):c.2400T>C (p.Val800=) rs267608071 0.00001
NM_000179.3(MSH6):c.246T>C (p.Pro82=) rs786201527 0.00001
NM_000179.3(MSH6):c.2765G>A (p.Arg922Gln) rs752839086 0.00001
NM_000179.3(MSH6):c.2853C>G (p.Leu951=) rs876658525 0.00001
NM_000179.3(MSH6):c.2934G>A (p.Gln978=) rs751780309 0.00001
NM_000179.3(MSH6):c.2940A>G (p.Glu980=) rs730881818 0.00001
NM_000179.3(MSH6):c.2982C>T (p.Tyr994=) rs367758473 0.00001
NM_000179.3(MSH6):c.3015A>G (p.Arg1005=) rs990650403 0.00001
NM_000179.3(MSH6):c.303G>A (p.Glu101=) rs1057521533 0.00001
NM_000179.3(MSH6):c.3081A>G (p.Val1027=) rs760019920 0.00001
NM_000179.3(MSH6):c.3198T>C (p.Tyr1066=) rs199643502 0.00001
NM_000179.3(MSH6):c.3294C>T (p.Cys1098=) rs766341781 0.00001
NM_000179.3(MSH6):c.333C>T (p.Tyr111=) rs786202772 0.00001
NM_000179.3(MSH6):c.33C>G (p.Phe11Leu) rs747802641 0.00001
NM_000179.3(MSH6):c.3567A>G (p.Thr1189=) rs754959739 0.00001
NM_000179.3(MSH6):c.3625C>T (p.Leu1209=) rs753675331 0.00001
NM_000179.3(MSH6):c.36C>G (p.Pro12=) rs760533525 0.00001
NM_000179.3(MSH6):c.3980A>G (p.Asn1327Ser) rs780187989 0.00001
NM_000179.3(MSH6):c.57T>C (p.Asp19=) rs752794296 0.00001
NM_000179.3(MSH6):c.81C>G (p.Ala27=) rs781496151 0.00001
NM_000209.4(PDX1):c.216C>T (p.Pro72=) rs193922353 0.00001
NM_000214.3(JAG1):c.74G>A (p.Arg25Gln) rs1265642949 0.00001
NM_000218.3(KCNQ1):c.1716G>A (p.Leu572=) rs886039093 0.00001
NM_000218.3(KCNQ1):c.420C>T (p.Ser140=) rs377520734 0.00001
NM_000237.3(LPL):c.843T>C (p.Asn281=) rs1217848191 0.00001
NM_000243.3(MEFV):c.2169C>T (p.Asp723=) rs104895117 0.00001
NM_000243.3(MEFV):c.359C>T (p.Thr120Ile) rs772698222 0.00001
NM_000243.3(MEFV):c.540G>C (p.Pro180=) rs104895139 0.00001
NM_000243.3(MEFV):c.621C>T (p.Ala207=) rs767667206 0.00001
NM_000249.4(MLH1):c.108T>C (p.Ile36=) rs730881747 0.00001
NM_000249.4(MLH1):c.1164C>T (p.Ser388=) rs1060504014 0.00001
NM_000249.4(MLH1):c.1191G>A (p.Leu397=) rs35164771 0.00001
NM_000249.4(MLH1):c.1452T>C (p.Asp484=) rs587778916 0.00001
NM_000249.4(MLH1):c.1665T>C (p.Leu555=) rs749204990 0.00001
NM_000249.4(MLH1):c.1902G>A (p.Gly634=) rs376866470 0.00001
NM_000249.4(MLH1):c.2094A>G (p.Ser698=) rs786202433 0.00001
NM_000249.4(MLH1):c.2190T>C (p.Pro730=) rs1057521673 0.00001
NM_000249.4(MLH1):c.24T>A (p.Ile8=) rs748406142 0.00001
NM_000249.4(MLH1):c.261C>T (p.Ser87=) rs63750923 0.00001
NM_000249.4(MLH1):c.27G>T (p.Arg9=) rs759680369 0.00001
NM_000249.4(MLH1):c.30G>T (p.Arg10=) rs876660759 0.00001
NM_000249.4(MLH1):c.351G>A (p.Thr117=) rs61751643 0.00001
NM_000249.4(MLH1):c.762G>A (p.Lys254=) rs863224341 0.00001
NM_000249.4(MLH1):c.885-5G>T rs267607802 0.00001
NM_000249.4(MLH1):c.918T>C (p.Asn306=) rs587779054 0.00001
NM_000249.4(MLH1):c.969G>C (p.Leu323=) rs1553648063 0.00001
NM_000251.3(MSH2):c.118G>A (p.Gly40Ser) rs63751260 0.00001
NM_000251.3(MSH2):c.1194A>G (p.Ala398=) rs1060504412 0.00001
NM_000251.3(MSH2):c.1311G>T (p.Val437=) rs730881781 0.00001
NM_000251.3(MSH2):c.1374A>G (p.Leu458=) rs767639853 0.00001
NM_000251.3(MSH2):c.153G>A (p.Leu51=) rs1378730463 0.00001
NM_000251.3(MSH2):c.159C>T (p.Ala53=) rs780178752 0.00001
NM_000251.3(MSH2):c.1760-7T>C rs972129356 0.00001
NM_000251.3(MSH2):c.1866A>C (p.Pro622=) rs757766951 0.00001
NM_000251.3(MSH2):c.186G>A (p.Gly62=) rs750058876 0.00001
NM_000251.3(MSH2):c.1962C>T (p.Asp654=) rs751939698 0.00001
NM_000251.3(MSH2):c.2082T>C (p.Phe694=) rs748210094 0.00001
NM_000251.3(MSH2):c.2094G>A (p.Glu698=) rs773555449 0.00001
NM_000251.3(MSH2):c.2248T>C (p.Leu750=) rs527725593 0.00001
NM_000251.3(MSH2):c.237G>T (p.Val79=) rs786202203 0.00001
NM_000251.3(MSH2):c.2397T>C (p.Asn799=) rs368988823 0.00001
NM_000251.3(MSH2):c.2589T>C (p.Tyr863=) rs757938946 0.00001
NM_000251.3(MSH2):c.274C>G (p.Leu92Val) rs587779154 0.00001
NM_000251.3(MSH2):c.375T>G (p.Pro125=) rs1427268231 0.00001
NM_000251.3(MSH2):c.459C>T (p.Ser153=) rs63751065 0.00001
NM_000251.3(MSH2):c.624A>C (p.Gly208=) rs786202651 0.00001
NM_000251.3(MSH2):c.639G>A (p.Leu213=) rs751250018 0.00001
NM_000251.3(MSH2):c.645+3A>G rs587779168 0.00001
NM_000251.3(MSH2):c.654A>G (p.Gln218=) rs1045119422 0.00001
NM_000251.3(MSH2):c.714T>C (p.Tyr238=) rs369670665 0.00001
NM_000251.3(MSH2):c.867T>C (p.Phe289=) rs863224342 0.00001
NM_000251.3(MSH2):c.996G>A (p.Lys332=) rs863224343 0.00001
NM_000256.3(MYBPC3):c.3654C>T (p.Gly1218=) rs374755212 0.00001
NM_000256.3(MYBPC3):c.393C>A (p.Ala131=) rs1180272933 0.00001
NM_000257.4(MYH7):c.1408-19C>A rs758286237 0.00001
NM_000257.4(MYH7):c.2162+9G>A rs765279420 0.00001
NM_000257.4(MYH7):c.3402G>A (p.Lys1134=) rs587781083 0.00001
NM_000257.4(MYH7):c.4512C>T (p.Asn1504=) rs1219572407 0.00001
NM_000257.4(MYH7):c.4911C>T (p.Ala1637=) rs151113658 0.00001
NM_000257.4(MYH7):c.4992C>T (p.Asn1664=) rs763538103 0.00001
NM_000257.4(MYH7):c.5505G>A (p.Glu1835=) rs750622554 0.00001
NM_000268.4(NF2):c.1311A>G (p.Ala437=) rs144628209 0.00001
NM_000305.3(PON2):c.900G>A (p.Ser300=) rs191021241 0.00001
NM_000308.4(CTSA):c.1062G>A (p.Glu354=) rs1568765243 0.00001
NM_000314.8(PTEN):c.1003C>A (p.Arg335=) rs121909231 0.00001
NM_000314.8(PTEN):c.114T>G (p.Pro38=) rs748040144 0.00001
NM_000314.8(PTEN):c.606T>C (p.Thr202=) rs1242879806 0.00001
NM_000314.8(PTEN):c.738G>A (p.Pro246=) rs774364894 0.00001
NM_000314.8(PTEN):c.79+7A>G rs374331677 0.00001
NM_000314.8(PTEN):c.858C>G (p.Thr286=) rs876660443 0.00001
NM_000335.5(SCN5A):c.1050C>T (p.His350=) rs587781160 0.00001
NM_000335.5(SCN5A):c.1218C>T (p.Asn406=) rs199473108 0.00001
NM_000335.5(SCN5A):c.1707G>C (p.Arg569=) rs747600514 0.00001
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile) rs199473177 0.00001
NM_000335.5(SCN5A):c.3909G>A (p.Thr1303=) rs764462471 0.00001
NM_000335.5(SCN5A):c.4098A>G (p.Thr1366=) rs563832893 0.00001
NM_000335.5(SCN5A):c.5034C>T (p.Phe1678=) rs867169736 0.00001
NM_000335.5(SCN5A):c.5127G>A (p.Ser1709=) rs758998714 0.00001
NM_000335.5(SCN5A):c.5730C>T (p.Ala1910=) rs781163189 0.00001
NM_000335.5(SCN5A):c.5946C>T (p.Ala1982=) rs397517957 0.00001
NM_000363.5(TNNI3):c.417T>C (p.Phe139=) rs1371643118 0.00001
NM_000368.5(TSC1):c.1059T>C (p.Cys353=) rs1216537041 0.00001
NM_000369.5(TSHR):c.170+10C>T rs139670361 0.00001
NM_000371.4(TTR):c.147C>T (p.Ala49=) rs11081703 0.00001
NM_000384.3(APOB):c.11585T>C (p.Ile3862Thr) rs772015796 0.00001
NM_000388.4(CASR):c.2295C>T (p.Cys765=) rs1232096655 0.00001
NM_000441.2(SLC26A4):c.684C>G (p.Ala228=) rs763221035 0.00001
NM_000448.3(RAG1):c.575G>A (p.Cys192Tyr) rs752955928 0.00001
NM_000451.4(SHOX):c.400C>A (p.Arg134=) rs193922467 0.00001
NM_000455.5(STK11):c.1039G>A (p.Ala347Thr) rs369744528 0.00001
NM_000455.5(STK11):c.1107C>T (p.Pro369=) rs376069854 0.00001
NM_000455.5(STK11):c.1128G>A (p.Glu376=) rs747018506 0.00001
NM_000455.5(STK11):c.1190C>T (p.Ala397Val) rs558040549 0.00001
NM_000455.5(STK11):c.1278G>A (p.Arg426=) rs201256614 0.00001
NM_000455.5(STK11):c.15C>T (p.Asp5=) rs786201498 0.00001
NM_000455.5(STK11):c.279C>G (p.Ala93=) rs786201852 0.00001
NM_000455.5(STK11):c.396C>T (p.Cys132=) rs730881969 0.00001
NM_000455.5(STK11):c.441T>C (p.Arg147=) rs786201456 0.00001
NM_000455.5(STK11):c.559G>A (p.Gly187Ser) rs587782032 0.00001
NM_000455.5(STK11):c.594C>T (p.Ala198=) rs772940660 0.00001
NM_000455.5(STK11):c.632G>A (p.Arg211Gln) rs730881982 0.00001
NM_000455.5(STK11):c.720G>A (p.Ser240=) rs759743897 0.00001
NM_000455.5(STK11):c.765C>T (p.Phe255=) rs769912677 0.00001
NM_000455.5(STK11):c.846C>G (p.Leu282=) rs777872290 0.00001
NM_000455.5(STK11):c.957A>G (p.Pro319=) rs755126393 0.00001
NM_000465.4(BARD1):c.1443C>T (p.Leu481=) rs1286691671 0.00001
NM_000465.4(BARD1):c.15G>C (p.Arg5=) rs769204862 0.00001
NM_000465.4(BARD1):c.1626A>G (p.Leu542=) rs786201551 0.00001
NM_000465.4(BARD1):c.1689G>A (p.Gly563=) rs762745326 0.00001
NM_000465.4(BARD1):c.1704A>G (p.Gly568=) rs1057520238 0.00001
NM_000465.4(BARD1):c.171G>C (p.Leu57=) rs876659045 0.00001
NM_000465.4(BARD1):c.1729C>T (p.Leu577=) rs749756887 0.00001
NM_000465.4(BARD1):c.1731G>A (p.Leu577=) rs863224364 0.00001
NM_000465.4(BARD1):c.2145G>A (p.Gln715=) rs760541330 0.00001
NM_000465.4(BARD1):c.2253G>T (p.Arg751=) rs750001065 0.00001
NM_000465.4(BARD1):c.300A>G (p.Gln100=) rs977731407 0.00001
NM_000465.4(BARD1):c.95G>T (p.Gly32Val) rs587782675 0.00001
NM_000492.4(CFTR):c.164+12T>C rs121908790 0.00001
NM_000492.4(CFTR):c.2112A>G (p.Pro704=) rs926782023 0.00001
NM_000492.4(CFTR):c.2220A>G (p.Pro740=) rs1792044298 0.00001
NM_000492.4(CFTR):c.2280G>A (p.Thr760=) rs138634146 0.00001
NM_000492.4(CFTR):c.2766A>G (p.Val922=) rs762906556 0.00001
NM_000492.4(CFTR):c.2808A>G (p.Pro936=) rs397508438 0.00001
NM_000492.4(CFTR):c.2835G>A (p.Ser945=) rs193922513 0.00001
NM_000492.4(CFTR):c.3306A>G (p.Arg1102=) rs746620950 0.00001
NM_000492.4(CFTR):c.357C>T (p.Ile119=) rs1264742569 0.00001
NM_000492.4(CFTR):c.3588A>T (p.Ser1196=) rs759202870 0.00001
NM_000492.4(CFTR):c.3759G>A (p.Leu1253=) rs117400534 0.00001
NM_000492.4(CFTR):c.3903A>G (p.Arg1301=) rs774683612 0.00001
NM_000492.4(CFTR):c.3969G>A (p.Gly1323=) rs886061952 0.00001
NM_000492.4(CFTR):c.720A>G (p.Leu240=) rs1344097861 0.00001
NM_000492.4(CFTR):c.972C>G (p.Pro324=) rs1799834 0.00001
NM_000517.6(HBA2):c.414C>T (p.Thr138=) rs371394396 0.00001
NM_000518.4(HBB):c.23A>G (p.Glu8Gly) rs34387455 0.00001
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486 0.00001
NM_000518.4(HBB):c.430C>T (p.His144Tyr) rs33929415 0.00001
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254 0.00001
NM_000518.5(HBB):c.122G>A (p.Arg41Lys) rs34831026 0.00001
NM_000518.5(HBB):c.144T>C (p.Asp48=) rs754454495 0.00001
NM_000518.5(HBB):c.165T>C (p.Val55=) rs760975738 0.00001
NM_000518.5(HBB):c.171C>T (p.Gly57=) rs193922551 0.00001
NM_000518.5(HBB):c.174C>T (p.Asn58=) rs35278874 0.00001
NM_000518.5(HBB):c.274C>T (p.Leu92=) rs769583496 0.00001
NM_000518.5(HBB):c.27G>A (p.Lys9=) rs35198910 0.00001
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) rs33914359 0.00001
NM_000518.5(HBB):c.316-184T>C rs193922557 0.00001
NM_000518.5(HBB):c.327C>T (p.Asn109=) rs34933751 0.00001
NM_000518.5(HBB):c.45G>A (p.Leu15=) rs762782573 0.00001
NM_000527.5(LDLR):c.1023C>T (p.Pro341=) rs376267007 0.00001
NM_000527.5(LDLR):c.1239G>A (p.Thr413=) rs777011006 0.00001
NM_000527.5(LDLR):c.1284C>T (p.Asn428=) rs368708058 0.00001
NM_000527.5(LDLR):c.1302G>A (p.Thr434=) rs534782075 0.00001
NM_000527.5(LDLR):c.1854A>G (p.Val618=) rs1248760084 0.00001
NM_000527.5(LDLR):c.447T>C (p.Gly149=) rs765386678 0.00001
NM_000527.5(LDLR):c.774A>G (p.Glu258=) rs1307291980 0.00001
NM_000527.5(LDLR):c.783C>T (p.Cys261=) rs1057519663 0.00001
NM_000535.7(PMS2):c.1095T>C (p.Ser365=) rs763278132 0.00001
NM_000535.7(PMS2):c.1113T>C (p.Asn371=) rs989130272 0.00001
NM_000535.7(PMS2):c.114G>A (p.Ala38=) rs558032755 0.00001
NM_000535.7(PMS2):c.1167A>G (p.Ala389=) rs748920792 0.00001
NM_000535.7(PMS2):c.1344A>T (p.Gly448=) rs759192470 0.00001
NM_000535.7(PMS2):c.1368T>C (p.Ser456=) rs587780723 0.00001
NM_000535.7(PMS2):c.1515G>A (p.Gly505=) rs753856135 0.00001
NM_000535.7(PMS2):c.1587G>A (p.Ser529=) rs786201709 0.00001
NM_000535.7(PMS2):c.1674C>T (p.Thr558=) rs876658134 0.00001
NM_000535.7(PMS2):c.1687C>A (p.Arg563=) rs587778618 0.00001
NM_000535.7(PMS2):c.2013G>A (p.Thr671=) rs771513870 0.00001
NM_000535.7(PMS2):c.2109G>A (p.Thr703=) rs775355718 0.00001
NM_000535.7(PMS2):c.2112C>T (p.Asp704=) rs764735061 0.00001
NM_000535.7(PMS2):c.2148C>T (p.Thr716=) rs748404138 0.00001
NM_000535.7(PMS2):c.2265C>T (p.Ile755=) rs145646046 0.00001
NM_000535.7(PMS2):c.2346C>T (p.Asp782=) rs139031103 0.00001
NM_000535.7(PMS2):c.243A>G (p.Glu81=) rs1057521802 0.00001
NM_000535.7(PMS2):c.27A>C (p.Thr9=) rs1060504842 0.00001
NM_000535.7(PMS2):c.630A>G (p.Lys210=) rs765847615 0.00001
NM_000535.7(PMS2):c.711A>G (p.Gln237=) rs368608818 0.00001
NM_000535.7(PMS2):c.750C>T (p.Ser250=) rs200439295 0.00001
NM_000535.7(PMS2):c.795T>C (p.Asn265=) rs766667186 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000545.8(HNF1A):c.685C>A (p.Arg229=) rs769086289 0.00001
NM_000546.6(TP53):c.1025G>A (p.Arg342Gln) rs375338359 0.00001
NM_000546.6(TP53):c.123T>C (p.Asp41=) rs369129220 0.00001
NM_000546.6(TP53):c.12G>A (p.Pro4=) rs876658274 0.00001
NM_000546.6(TP53):c.270C>T (p.Ser90=) rs863224370 0.00001
NM_000546.6(TP53):c.354A>T (p.Thr118=) rs751978853 0.00001
NM_000546.6(TP53):c.566C>T (p.Ala189Val) rs121912665 0.00001
NM_000546.6(TP53):c.606T>C (p.Arg202=) rs1392931620 0.00001
NM_000546.6(TP53):c.782+10C>T rs200277687 0.00001
NM_000546.6(TP53):c.867C>T (p.Leu289=) rs778138282 0.00001
NM_000546.6(TP53):c.891C>T (p.His297=) rs750578863 0.00001
NM_000548.5(TSC2):c.1911C>T (p.Val637=) rs543584836 0.00001
NM_000548.5(TSC2):c.2098-9T>C rs755416873 0.00001
NM_000548.5(TSC2):c.362C>G (p.Ala121Gly) rs767755750 0.00001
NM_000548.5(TSC2):c.3958G>A (p.Val1320Ile) rs767495365 0.00001
NM_000548.5(TSC2):c.5343A>G (p.Pro1781=) rs747614356 0.00001
NM_000548.5(TSC2):c.576C>T (p.Asp192=) rs761704292 0.00001
NM_000702.4(ATP1A2):c.681C>T (p.Pro227=) rs771930383 0.00001
NM_000702.4(ATP1A2):c.813C>T (p.Leu271=) rs747740289 0.00001
NM_000719.7(CACNA1C):c.1508+16G>A rs1358258790 0.00001
NM_000719.7(CACNA1C):c.4782G>A (p.Lys1594=) rs1336965329 0.00001
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys) rs371760034 0.00001
NM_000719.7(CACNA1C):c.5883C>T (p.Ser1961=) rs1291974001 0.00001
NM_000719.7(CACNA1C):c.6279C>T (p.Ala2093=) rs768208850 0.00001
NM_000742.4(CHRNA2):c.1464+10G>T rs749942986 0.00001
NM_000784.4(CYP27A1):c.69C>T (p.His23=) rs1444634924 0.00001
NM_000891.3(KCNJ2):c.138C>T (p.Arg46=) rs997406384 0.00001
NM_000891.3(KCNJ2):c.579T>G (p.Leu193=) rs773272852 0.00001
NM_001005242.3(PKP2):c.1557-9T>C rs778969163 0.00001
NM_001005242.3(PKP2):c.1680G>A (p.Thr560=) rs773662874 0.00001
NM_001005242.3(PKP2):c.2217G>A (p.Pro739=) rs753226330 0.00001
NM_001005242.3(PKP2):c.473G>A (p.Arg158Lys) rs397517027 0.00001
NM_001005242.3(PKP2):c.909A>G (p.Glu303=) rs376001513 0.00001
NM_001017980.4(VMA21):c.57T>C (p.Asn19=) rs1402497520 0.00001
NM_001032283.3(TMPO):c.565+1499A>G rs776923796 0.00001
NM_001032283.3(TMPO):c.72T>C (p.Asn24=) rs201960762 0.00001
NM_001035.3(RYR2):c.11205C>T (p.Gly3735=) rs756763032 0.00001
NM_001035.3(RYR2):c.12315C>T (p.Leu4105=) rs184625125 0.00001
NM_001035.3(RYR2):c.12489C>T (p.Pro4163=) rs777321777 0.00001
NM_001035.3(RYR2):c.14469T>C (p.Ala4823=) rs1164805007 0.00001
NM_001035.3(RYR2):c.2223A>G (p.Val741=) rs117242563 0.00001
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys) rs533330664 0.00001
NM_001035.3(RYR2):c.3735G>A (p.Arg1245=) rs190884873 0.00001
NM_001035.3(RYR2):c.4182G>A (p.Lys1394=) rs953147627 0.00001
NM_001035.3(RYR2):c.4215C>T (p.Leu1405=) rs754504287 0.00001
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln) rs727504850 0.00001
NM_001035.3(RYR2):c.4266A>G (p.Gln1422=) rs759662492 0.00001
NM_001035.3(RYR2):c.6336C>T (p.Ser2112=) rs373777614 0.00001
NM_001035.3(RYR2):c.8019G>A (p.Ala2673=) rs745484020 0.00001
NM_001035.3(RYR2):c.819C>T (p.Ser273=) rs746461178 0.00001
NM_001035.3(RYR2):c.8287T>C (p.Leu2763=) rs1057520868 0.00001
NM_001035.3(RYR2):c.9432G>A (p.Lys3144=) rs367780360 0.00001
NM_001035.3(RYR2):c.9927A>G (p.Lys3309=) rs184937795 0.00001
NM_001040142.2(SCN2A):c.477-13T>C rs973711914 0.00001
NM_001042492.3(NF1):c.2361A>G (p.Ala787=) rs371589922 0.00001
NM_001042492.3(NF1):c.2490C>T (p.Asp830=) rs786201629 0.00001
NM_001042492.3(NF1):c.3111T>C (p.Phe1037=) rs200240170 0.00001
NM_001042492.3(NF1):c.3303G>A (p.Gln1101=) rs876659944 0.00001
NM_001042492.3(NF1):c.3395G>A (p.Arg1132His) rs778920556 0.00001
NM_001042492.3(NF1):c.354C>T (p.Cys118=) rs768777585 0.00001
NM_001042492.3(NF1):c.4421C>T (p.Ala1474Val) rs587781553 0.00001
NM_001042492.3(NF1):c.4431-17A>T rs754657048 0.00001
NM_001042492.3(NF1):c.6546C>T (p.Tyr2182=) rs876659768 0.00001
NM_001042492.3(NF1):c.6552C>T (p.Asp2184=) rs376808264 0.00001
NM_001042492.3(NF1):c.7086A>C (p.Ala2362=) rs1241296625 0.00001
NM_001042492.3(NF1):c.7479A>G (p.Pro2493=) rs144957306 0.00001
NM_001042492.3(NF1):c.7870-19C>T rs542314717 0.00001
NM_001048174.2(MUTYH):c.1134C>T (p.Ser378=) rs759460243 0.00001
NM_001048174.2(MUTYH):c.1161T>C (p.Leu387=) rs550693666 0.00001
NM_001048174.2(MUTYH):c.1206C>T (p.Pro402=) rs752408891 0.00001
NM_001048174.2(MUTYH):c.1311A>C (p.Pro437=) rs768239149 0.00001
NM_001048174.2(MUTYH):c.1380C>T (p.Thr460=) rs373973053 0.00001
NM_001048174.2(MUTYH):c.288C>T (p.Asp96=) rs730881836 0.00001
NM_001048174.2(MUTYH):c.483A>C (p.Gly161=) rs1361354427 0.00001
NM_001048174.2(MUTYH):c.573A>C (p.Thr191=) rs778014929 0.00001
NM_001083962.2(TCF4):c.1989C>T (p.Asp663=) rs752325141 0.00001
NM_001103.4(ACTN2):c.1614T>C (p.Asp538=) rs368615266 0.00001
NM_001103.4(ACTN2):c.1905C>T (p.Asn635=) rs772586220 0.00001
NM_001103.4(ACTN2):c.616-3C>T rs111464645 0.00001
NM_001110556.2(FLNA):c.1455G>A (p.Ala485=) rs782650242 0.00001
NM_001110792.2(MECP2):c.1017C>T (p.Thr339=) rs1015722593 0.00001
NM_001113378.2(FANCI):c.2879_2884dup (p.Gln961_Phe962insTrpGln) rs776851666 0.00001
NM_001113378.2(FANCI):c.3256-9T>C rs1464839356 0.00001
NM_001134363.3(RBM20):c.1935G>A (p.Pro645=) rs184428735 0.00001
NM_001134363.3(RBM20):c.219A>G (p.Pro73=) rs1355159778 0.00001
NM_001148.6(ANK2):c.2289G>A (p.Thr763=) rs753131867 0.00001
NM_001148.6(ANK2):c.2364C>T (p.Asn788=) rs769405364 0.00001
NM_001148.6(ANK2):c.3090G>T (p.Leu1030=) rs1487758535 0.00001
NM_001148.6(ANK2):c.4372-8G>A rs771323413 0.00001
NM_001148.6(ANK2):c.6627G>T (p.Gly2209=) rs755239682 0.00001
NM_001148.6(ANK2):c.8409A>G (p.Glu2803=) rs74743698 0.00001
NM_001148.6(ANK2):c.9598C>T (p.Leu3200Phe) rs750774547 0.00001
NM_001165963.4(SCN1A):c.3426A>G (p.Lys1142=) rs753202524 0.00001
NM_001174150.2(ARL13B):c.436T>G (p.Cys146Gly) rs202125140 0.00001
NM_001232.4(CASQ2):c.678C>T (p.Ala226=) rs1647618680 0.00001
NM_001267550.2(TTN):c.100585T>C (p.Trp33529Arg) rs998397847 0.00001
NM_001267550.2(TTN):c.102164T>C (p.Val34055Ala) rs752582515 0.00001
NM_001267550.2(TTN):c.102558C>T (p.Thr34186=) rs1457807365 0.00001
NM_001267550.2(TTN):c.105570A>G (p.Ser35190=) rs377340289 0.00001
NM_001267550.2(TTN):c.15408G>A (p.Ser5136=) rs761269554 0.00001
NM_001267550.2(TTN):c.17280G>A (p.Thr5760=) rs748617936 0.00001
NM_001267550.2(TTN):c.1920G>A (p.Val640=) rs1361872004 0.00001
NM_001267550.2(TTN):c.2082C>T (p.Asp694=) rs534874686 0.00001
NM_001267550.2(TTN):c.21888T>C (p.Asp7296=) rs767681708 0.00001
NM_001267550.2(TTN):c.25392A>C (p.Ser8464=) rs766560212 0.00001
NM_001267550.2(TTN):c.2766C>T (p.Arg922=) rs372617952 0.00001
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln) rs397517527 0.00001
NM_001267550.2(TTN):c.30219C>T (p.Ile10073=) rs369709449 0.00001
NM_001267550.2(TTN):c.30224-18C>T rs748735506 0.00001
NM_001267550.2(TTN):c.30675T>C (p.Arg10225=) rs898902393 0.00001
NM_001267550.2(TTN):c.32198-9C>A rs555383226 0.00001
NM_001267550.2(TTN):c.34613-18A>G rs372828399 0.00001
NM_001267550.2(TTN):c.39468C>T (p.Pro13156=) rs1367382367 0.00001
NM_001267550.2(TTN):c.42561A>C (p.Val14187=) rs1057521315 0.00001
NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg) rs144848584 0.00001
NM_001267550.2(TTN):c.50511A>T (p.Pro16837=) rs574553890 0.00001
NM_001267550.2(TTN):c.55290C>T (p.Pro18430=) rs777904054 0.00001
NM_001267550.2(TTN):c.57243T>A (p.Ile19081=) rs1185555417 0.00001
NM_001267550.2(TTN):c.58022G>A (p.Ser19341Asn) rs536645864 0.00001
NM_001267550.2(TTN):c.61908T>C (p.Asn20636=) rs2049830448 0.00001
NM_001267550.2(TTN):c.63417G>A (p.Gln21139=) rs1167463666 0.00001
NM_001267550.2(TTN):c.64755G>A (p.Leu21585=) rs755813803 0.00001
NM_001267550.2(TTN):c.64827G>A (p.Thr21609=) rs377420188 0.00001
NM_001267550.2(TTN):c.66048C>T (p.Ser22016=) rs997612485 0.00001
NM_001267550.2(TTN):c.67681T>C (p.Leu22561=) rs397517671 0.00001
NM_001267550.2(TTN):c.71022T>C (p.Leu23674=) rs201333699 0.00001
NM_001267550.2(TTN):c.73149G>A (p.Ser24383=) rs564938876 0.00001
NM_001267550.2(TTN):c.73212C>T (p.Ser24404=) rs754332135 0.00001
NM_001267550.2(TTN):c.74965G>A (p.Val24989Met) rs567800207 0.00001
NM_001267550.2(TTN):c.750A>G (p.Pro250=) rs1227298156 0.00001
NM_001267550.2(TTN):c.7530A>G (p.Ser2510=) rs189187431 0.00001
NM_001267550.2(TTN):c.77679T>A (p.Pro25893=) rs754965979 0.00001
NM_001267550.2(TTN):c.79068A>G (p.Glu26356=) rs375454098 0.00001
NM_001267550.2(TTN):c.83919T>C (p.Asn27973=) rs777656348 0.00001
NM_001267550.2(TTN):c.85003T>G (p.Ser28335Ala) rs147895770 0.00001
NM_001267550.2(TTN):c.85953A>G (p.Leu28651=) rs546573613 0.00001
NM_001267550.2(TTN):c.86259A>G (p.Leu28753=) rs886055233 0.00001
NM_001267550.2(TTN):c.88296C>T (p.Ile29432=) rs370287542 0.00001
NM_001267550.2(TTN):c.88887C>T (p.Asn29629=) rs759136146 0.00001
NM_001267550.2(TTN):c.88947G>A (p.Ser29649=) rs912193120 0.00001
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met) rs369855092 0.00001
NM_001267550.2(TTN):c.91533T>G (p.Ser30511=) rs772824909 0.00001
NM_001267550.2(TTN):c.92694T>C (p.Ala30898=) rs760506340 0.00001
NM_001267550.2(TTN):c.93270T>C (p.Val31090=) rs533233569 0.00001
NM_001267550.2(TTN):c.94599T>C (p.Asp31533=) rs764363274 0.00001
NM_001267550.2(TTN):c.97152T>C (p.Val32384=) rs368018568 0.00001
NM_001267550.2(TTN):c.97347C>T (p.Pro32449=) rs753266734 0.00001
NM_001267550.2(TTN):c.97418G>A (p.Arg32473His) rs397517770 0.00001
NM_001267550.2(TTN):c.99900C>T (p.Ile33300=) rs747130957 0.00001
NM_001276345.2(TNNT2):c.192G>A (p.Glu64=) rs1180516886 0.00001
NM_001291303.3(FAT4):c.10395C>T (p.Thr3465=) rs768300702 0.00001
NM_001354689.3(RAF1):c.1200C>T (p.Val400=) rs397516814 0.00001
NM_001356.5(DDX3X):c.152-18del rs775104021 0.00001
NM_001356.5(DDX3X):c.443+15T>C rs1219685290 0.00001
NM_001360.3(DHCR7):c.51C>T (p.Gly17=) rs776713087 0.00001
NM_001365999.1(SZT2):c.8151+11C>T rs78750047 0.00001
NM_001370259.2(MEN1):c.1215G>A (p.Gln405=) rs1289898067 0.00001
NM_001370259.2(MEN1):c.1656T>C (p.Thr552=) rs143423552 0.00001
NM_001370259.2(MEN1):c.999T>C (p.Asn333=) rs763133775 0.00001
NM_001371904.1(APOA5):c.940C>T (p.Leu314=) rs778540867 0.00001
NM_001374828.1(ARID1B):c.1987-10T>G rs1276255111 0.00001
NM_001376.5(DYNC1H1):c.12684+16G>C rs763549678 0.00001
NM_001378454.1(ALMS1):c.11310T>C (p.Asp3770=) rs1438099503 0.00001
NM_001378454.1(ALMS1):c.12282C>T (p.Cys4094=) rs760968067 0.00001
NM_001378454.1(ALMS1):c.1521A>C (p.Gly507=) rs760374410 0.00001
NM_001378454.1(ALMS1):c.2472C>G (p.Ala824=) rs368270850 0.00001
NM_001378454.1(ALMS1):c.3266C>G (p.Thr1089Arg) rs556855697 0.00001
NM_001378454.1(ALMS1):c.7917T>C (p.His2639=) rs1672938733 0.00001
NM_001378454.1(ALMS1):c.8421A>G (p.Gln2807=) rs774574310 0.00001
NM_001378454.1(ALMS1):c.9639A>G (p.Leu3213=) rs566943393 0.00001
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=) rs370267673 0.00001
NM_001378969.1(KCND3):c.399C>T (p.Tyr133=) rs144184587 0.00001
NM_001386795.1(DTNA):c.476G>A (p.Ser159Asn) rs147115867 0.00001
NM_001677.4(ATP1B1):c.382G>A (p.Asp128Asn) rs769851426 0.00001
NM_001845.6(COL4A1):c.324+16G>A rs770236988 0.00001
NM_001849.4(COL6A2):c.2397T>C (p.Asp799=) rs754203636 0.00001
NM_001927.4(DES):c.894G>A (p.Ser298=) rs747073500 0.00001
NM_001943.5(DSG2):c.1791C>T (p.Ser597=) rs768167385 0.00001
NM_001943.5(DSG2):c.222T>C (p.His74=) rs367797047 0.00001
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile) rs772744115 0.00001
NM_001999.4(FBN2):c.1011C>T (p.Thr337=) rs781086796 0.00001
NM_001999.4(FBN2):c.294C>T (p.Cys98=) rs765214316 0.00001
NM_001999.4(FBN2):c.4890C>T (p.Tyr1630=) rs1488160637 0.00001
NM_002055.5(GFAP):c.495C>T (p.Ala165=) rs1306438057 0.00001
NM_002230.4(JUP):c.1017C>T (p.Ser339=) rs782357007 0.00001
NM_002230.4(JUP):c.1128G>A (p.Leu376=) rs781926392 0.00001
NM_002230.4(JUP):c.1327C>T (p.Leu443=) rs140537908 0.00001
NM_002230.4(JUP):c.1347C>T (p.Asp449=) rs763261901 0.00001
NM_002230.4(JUP):c.1506C>T (p.Ile502=) rs372963143 0.00001
NM_002230.4(JUP):c.1551G>A (p.Pro517=) rs988891105 0.00001
NM_002230.4(JUP):c.1599G>A (p.Lys533=) rs150699961 0.00001
NM_002230.4(JUP):c.192G>A (p.Gly64=) rs141237794 0.00001
NM_002230.4(JUP):c.266T>C (p.Met89Thr) rs542745694 0.00001
NM_002230.4(JUP):c.414G>A (p.Glu138=) rs370003514 0.00001
NM_002230.4(JUP):c.469-16del rs782421393 0.00001
NM_002471.4(MYH6):c.3597C>T (p.Ala1199=) rs1269257633 0.00001
NM_002471.4(MYH6):c.3696C>T (p.Asp1232=) rs779525060 0.00001
NM_002471.4(MYH6):c.5508A>G (p.Ala1836=) rs193922654 0.00001
NM_002474.3(MYH11):c.1823A>G (p.Asn608Ser) rs750642581 0.00001
NM_002474.3(MYH11):c.1852C>T (p.Leu618=) rs759239390 0.00001
NM_002474.3(MYH11):c.3469G>A (p.Asp1157Asn) rs746943696 0.00001
NM_002474.3(MYH11):c.3594G>A (p.Arg1198=) rs138908402 0.00001
NM_002474.3(MYH11):c.4069G>A (p.Glu1357Lys) rs141184241 0.00001
NM_002474.3(MYH11):c.4648G>A (p.Glu1550Lys) rs751716762 0.00001
NM_002474.3(MYH11):c.5422G>A (p.Val1808Ile) rs780870767 0.00001
NM_002474.3(MYH11):c.573C>T (p.Val191=) rs763981310 0.00001
NM_002474.3(MYH11):c.5766C>T (p.Asn1922=) rs764020019 0.00001
NM_002485.5(NBN):c.1056A>G (p.Leu352=) rs369092711 0.00001
NM_002485.5(NBN):c.1065C>T (p.Ser355=) rs876659205 0.00001
NM_002485.5(NBN):c.1124+9T>G rs864622466 0.00001
NM_002485.5(NBN):c.1455G>A (p.Thr485=) rs772864909 0.00001
NM_002485.5(NBN):c.1761C>T (p.Val587=) rs769773789 0.00001
NM_002485.5(NBN):c.1890A>C (p.Ser630=) rs587780778 0.00001
NM_002485.5(NBN):c.2136T>C (p.His712=) rs1429343146 0.00001
NM_002485.5(NBN):c.2196A>G (p.Gln732=) rs587780780 0.00001
NM_002485.5(NBN):c.2247T>C (p.Tyr749=) rs762740478 0.00001
NM_002485.5(NBN):c.333G>A (p.Glu111=) rs376455714 0.00001
NM_002485.5(NBN):c.384A>G (p.Leu128=) rs587780782 0.00001
NM_002485.5(NBN):c.390A>G (p.Gln130=) rs146150499 0.00001
NM_002485.5(NBN):c.483A>G (p.Thr161=) rs758276775 0.00001
NM_002485.5(NBN):c.621T>C (p.Ser207=) rs876658177 0.00001
NM_002485.5(NBN):c.666C>T (p.Phe222=) rs876661098 0.00001
NM_002485.5(NBN):c.798G>A (p.Pro266=) rs368786672 0.00001
NM_002524.5(NRAS):c.273G>A (p.Ala91=) rs1429502684 0.00001
NM_002691.4(POLD1):c.2327G>A (p.Arg776Gln) rs141801845 0.00001
NM_002691.4(POLD1):c.2565-18C>T rs754566158 0.00001
NM_002691.4(POLD1):c.2667C>T (p.Arg889=) rs572100354 0.00001
NM_002691.4(POLD1):c.3129T>C (p.His1043=) rs1060504363 0.00001
NM_002709.3(PPP1CB):c.593-17A>G rs200826100 0.00001
NM_002734.5(PRKAR1A):c.289C>A (p.Arg97=) rs1555813217 0.00001
NM_002734.5(PRKAR1A):c.303C>T (p.Ser101=) rs1294747986 0.00001
NM_002734.5(PRKAR1A):c.306T>C (p.Ala102=) rs757511127 0.00001
NM_002734.5(PRKAR1A):c.549+10A>C rs751413552 0.00001
NM_002734.5(PRKAR1A):c.810A>G (p.Ala270=) rs778165219 0.00001
NM_002734.5(PRKAR1A):c.813G>A (p.Leu271=) rs1325106678 0.00001
NM_002755.4(MAP2K1):c.405C>T (p.Ser135=) rs767989355 0.00001
NM_002769.5(PRSS1):c.93G>A (p.Glu31=) rs745623963 0.00001
NM_002834.5(PTPN11):c.1131A>C (p.Leu377=) rs370059077 0.00001
NM_002834.5(PTPN11):c.1467C>T (p.Asp489=) rs539373294 0.00001
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys) rs191525506 0.00001
NM_002834.5(PTPN11):c.324C>A (p.Thr108=) rs1352499844 0.00001
NM_002834.5(PTPN11):c.537C>T (p.Tyr179=) rs141015445 0.00001
NM_002834.5(PTPN11):c.996C>T (p.Gly332=) rs397507533 0.00001
NM_002878.4(RAD51D):c.126A>G (p.Lys42=) rs145361433 0.00001
NM_002878.4(RAD51D):c.12C>G (p.Leu4=) rs786203193 0.00001
NM_002878.4(RAD51D):c.198G>T (p.Val66=) rs200810304 0.00001
NM_002878.4(RAD51D):c.22C>T (p.Leu8=) rs876659203 0.00001
NM_002878.4(RAD51D):c.382C>T (p.Leu128=) rs1438461174 0.00001
NM_002878.4(RAD51D):c.900A>G (p.Arg300=) rs370634278 0.00001
NM_002878.4(RAD51D):c.90C>T (p.Asp30=) rs374725981 0.00001
NM_002880.4(RAF1):c.1656C>T (p.Asn552=) rs772194284 0.00001
NM_002880.4(RAF1):c.321T>C (p.Gly107=) rs201937982 0.00001
NM_002880.4(RAF1):c.391C>T (p.Leu131=) rs878854566 0.00001
NM_002880.4(RAF1):c.471A>G (p.Lys157=) rs1001494773 0.00001
NM_002880.4(RAF1):c.708C>T (p.His236=) rs370658857 0.00001
NM_002880.4(RAF1):c.835G>A (p.Asp279Asn) rs368796800 0.00001
NM_002880.4(RAF1):c.93A>G (p.Thr31=) rs762478810 0.00001
NM_003001.5(SDHC):c.9G>A (p.Ala3=) rs749265569 0.00001
NM_003060.4(SLC22A5):c.1125C>T (p.Asn375=) rs202219455 0.00001
NM_003242.6(TGFBR2):c.1185G>C (p.Leu395=) rs193922663 0.00001
NM_003242.6(TGFBR2):c.1263T>G (p.Thr421=) rs1397322686 0.00001
NM_003476.5(CSRP3):c.261T>C (p.His87=) rs773476497 0.00001
NM_004004.6(GJB2):c.146C>T (p.Ala49Val) rs1057517976 0.00001
NM_004006.3(DMD):c.1959T>C (p.Asn653=) rs770238198 0.00001
NM_004006.3(DMD):c.5923-7A>G rs769161854 0.00001
NM_004281.4(BAG3):c.1266G>C (p.Val422=) rs779661440 0.00001
NM_004281.4(BAG3):c.1410C>T (p.Pro470=) rs749034517 0.00001
NM_004281.4(BAG3):c.508-17C>T rs1410668640 0.00001
NM_004329.3(BMPR1A):c.1362A>G (p.Gln454=) rs764090248 0.00001
NM_004329.3(BMPR1A):c.1371T>C (p.Tyr457=) rs1484956301 0.00001
NM_004329.3(BMPR1A):c.749T>C (p.Met250Thr) rs587780783 0.00001
NM_004329.3(BMPR1A):c.774G>A (p.Val258=) rs540411494 0.00001
NM_004333.6(BRAF):c.193T>C (p.Leu65=) rs866875749 0.00001
NM_004333.6(BRAF):c.2082A>G (p.Ala694=) rs375174370 0.00001
NM_004333.6(BRAF):c.2229T>C (p.Phe743=) rs397516901 0.00001
NM_004333.6(BRAF):c.750T>C (p.Phe250=) rs754568893 0.00001
NM_004360.5(CDH1):c.1132A>C (p.Thr378Pro) rs587781432 0.00001
NM_004360.5(CDH1):c.1209C>G (p.Ala403=) rs982151802 0.00001
NM_004360.5(CDH1):c.1370C>T (p.Thr457Met) rs587778170 0.00001
NM_004360.5(CDH1):c.1503G>A (p.Val501=) rs775290153 0.00001
NM_004360.5(CDH1):c.150C>A (p.Arg50=) rs786201262 0.00001
NM_004360.5(CDH1):c.1611G>A (p.Pro537=) rs1060504173 0.00001
NM_004360.5(CDH1):c.1623C>T (p.Ala541=) rs376662384 0.00001
NM_004360.5(CDH1):c.1797T>C (p.Thr599=) rs786201932 0.00001
NM_004360.5(CDH1):c.2046G>A (p.Glu682=) rs753209043 0.00001
NM_004360.5(CDH1):c.2073C>T (p.Ala691=) rs536104508 0.00001
NM_004360.5(CDH1):c.2091G>A (p.Lys697=) rs61747635 0.00001
NM_004360.5(CDH1):c.2322G>A (p.Arg774=) rs150734856 0.00001
NM_004360.5(CDH1):c.2361T>C (p.Val787=) rs1555517864 0.00001
NM_004360.5(CDH1):c.286A>G (p.Ile96Val) rs749306433 0.00001
NM_004360.5(CDH1):c.370C>T (p.Arg124Cys) rs748086082 0.00001
NM_004360.5(CDH1):c.627A>G (p.Arg209=) rs371601956 0.00001
NM_004360.5(CDH1):c.879G>A (p.Val293=) rs778959722 0.00001
NM_004380.3(CREBBP):c.5709G>A (p.Pro1903=) rs773624477 0.00001
NM_004415.4(DSP):c.1482C>T (p.Tyr494=) rs772925425 0.00001
NM_004415.4(DSP):c.1821A>G (p.Lys607=) rs768675424 0.00001
NM_004415.4(DSP):c.4566G>A (p.Thr1522=) rs1159243386 0.00001
NM_004415.4(DSP):c.5202G>C (p.Leu1734=) rs755220841 0.00001
NM_004415.4(DSP):c.5631T>C (p.Ala1877=) rs1231651139 0.00001
NM_004415.4(DSP):c.5880C>T (p.Thr1960=) rs375883982 0.00001
NM_004415.4(DSP):c.7413A>G (p.Pro2471=) rs772161814 0.00001
NM_004612.4(TGFBR1):c.12G>A (p.Ala4=) rs1365442897 0.00001
NM_004655.4(AXIN2):c.2499C>A (p.Gly833=) rs772461187 0.00001
NM_004937.3(CTNS):c.612C>T (p.Asn204=) rs200170842 0.00001
NM_004958.4(MTOR):c.6681C>T (p.Val2227=) rs1360883964 0.00001
NM_005045.4(RELN):c.6192C>T (p.His2064=) rs764737797 0.00001
NM_005045.4(RELN):c.8541C>T (p.Ile2847=) rs746020620 0.00001
NM_005188.4(CBL):c.1074A>G (p.Gln358=) rs1060500678 0.00001
NM_005188.4(CBL):c.573A>G (p.Arg191=) rs1254459327 0.00001
NM_005343.4(HRAS):c.141T>C (p.Asp47=) rs765092617 0.00001
NM_005359.6(SMAD4):c.1155A>G (p.Lys385=) rs752938351 0.00001
NM_005359.6(SMAD4):c.1353G>A (p.Ala451=) rs1441353791 0.00001
NM_005359.6(SMAD4):c.1422A>C (p.Ser474=) rs786201261 0.00001
NM_005359.6(SMAD4):c.249+13_249+14insAT rs1467195416 0.00001
NM_005359.6(SMAD4):c.276T>C (p.His92=) rs762501162 0.00001
NM_005359.6(SMAD4):c.390A>G (p.Pro130=) rs755862230 0.00001
NM_005359.6(SMAD4):c.399C>T (p.Tyr133=) rs779069779 0.00001
NM_005359.6(SMAD4):c.510A>G (p.Pro170=) rs144226135 0.00001
NM_005359.6(SMAD4):c.672G>A (p.Gln224=) rs1397172791 0.00001
NM_005359.6(SMAD4):c.960T>C (p.Pro320=) rs1568208159 0.00001
NM_005360.5(MAF):c.864G>A (p.Arg288=) rs749330861 0.00001
NM_005373.3(MPL):c.1053C>T (p.Arg351=) rs753608517 0.00001
NM_005502.4(ABCA1):c.2082T>C (p.Leu694=) rs1296884530 0.00001
NM_005502.4(ABCA1):c.2355G>T (p.Val785=) rs1355015657 0.00001
NM_005502.4(ABCA1):c.2678C>T (p.Thr893Ile) rs758107854 0.00001
NM_005502.4(ABCA1):c.4194C>T (p.Asp1398=) rs752528416 0.00001
NM_005502.4(ABCA1):c.4482A>G (p.Ala1494=) rs1250688041 0.00001
NM_005559.4(LAMA1):c.7453-15C>G rs370327597 0.00001
NM_005585.5(SMAD6):c.730C>T (p.Leu244=) rs1042398681 0.00001
NM_005591.4(MRE11):c.1098+10A>G rs1946604458 0.00001
NM_005591.4(MRE11):c.1476C>T (p.Ala492=) rs370397034 0.00001
NM_005609.4(PYGM):c.723C>T (p.Thr241=) rs772848708 0.00001
NM_005633.4(SOS1):c.1047C>T (p.His349=) rs1043516636 0.00001
NM_005633.4(SOS1):c.1278G>A (p.Gln426=) rs1352756240 0.00001
NM_005633.4(SOS1):c.1719T>C (p.Asp573=) rs746674452 0.00001
NM_005633.4(SOS1):c.2604T>C (p.Phe868=) rs756520305 0.00001
NM_005633.4(SOS1):c.2728G>C (p.Asp910His) rs369277679 0.00001
NM_005633.4(SOS1):c.3060C>T (p.Asn1020=) rs142431345 0.00001
NM_005633.4(SOS1):c.3093T>C (p.Tyr1031=) rs766864647 0.00001
NM_005633.4(SOS1):c.3114T>G (p.Pro1038=) rs777755307 0.00001
NM_005633.4(SOS1):c.3438A>G (p.Glu1146=) rs1226908698 0.00001
NM_005633.4(SOS1):c.3732T>C (p.His1244=) rs1391583247 0.00001
NM_005633.4(SOS1):c.3832T>C (p.Leu1278=) rs750354913 0.00001
NM_005633.4(SOS1):c.429G>A (p.Lys143=) rs773264070 0.00001
NM_005633.4(SOS1):c.675T>G (p.Val225=) rs371482290 0.00001
NM_005732.4(RAD50):c.1605T>C (p.Arg535=) rs878854785 0.00001
NM_005732.4(RAD50):c.2209C>G (p.Gln737Glu) rs549559726 0.00001
NM_005732.4(RAD50):c.2409A>G (p.Lys803=) rs762456674 0.00001
NM_005732.4(RAD50):c.2468G>A (p.Arg823Gln) rs572533256 0.00001
NM_005732.4(RAD50):c.2472T>G (p.Thr824=) rs1358470664 0.00001
NM_005732.4(RAD50):c.2530A>C (p.Ser844Arg) rs373817937 0.00001
NM_005732.4(RAD50):c.323A>G (p.Lys108Arg) rs542347773 0.00001
NM_005732.4(RAD50):c.353T>C (p.Ile118Thr) rs200472836 0.00001
NM_005732.4(RAD50):c.3660G>A (p.Thr1220=) rs758026288 0.00001
NM_005732.4(RAD50):c.3902A>G (p.Lys1301Arg) rs201766077 0.00001
NM_005732.4(RAD50):c.927C>T (p.His309=) rs758239327 0.00001
NM_005751.5(AKAP9):c.4837A>G (p.Met1613Val) rs193922723 0.00001
NM_005751.5(AKAP9):c.5870A>G (p.Asn1957Ser) rs767966419 0.00001
NM_005751.5(AKAP9):c.6996A>G (p.Glu2332=) rs1315064294 0.00001
NM_005751.5(AKAP9):c.7200G>A (p.Gln2400=) rs1813131577 0.00001
NM_005751.5(AKAP9):c.9881G>A (p.Arg3294Gln) rs752685614 0.00001
NM_005902.4(SMAD3):c.603C>T (p.Asp201=) rs774814963 0.00001
NM_005981.5(TSPAN31):c.*2037dup rs757684130 0.00001
NM_006231.4(POLE):c.2361C>T (p.Asp787=) rs1060504070 0.00001
NM_006231.4(POLE):c.4245C>T (p.Asn1415=) rs778896278 0.00001
NM_006231.4(POLE):c.4555C>T (p.Arg1519Cys) rs542430685 0.00001
NM_006231.4(POLE):c.4667G>A (p.Arg1556Gln) rs762965148 0.00001
NM_006231.4(POLE):c.5130C>T (p.Asp1710=) rs1340452589 0.00001
NM_006231.4(POLE):c.5274C>T (p.Phe1758=) rs921653059 0.00001
NM_006231.4(POLE):c.5559C>T (p.Ile1853=) rs1032264693 0.00001
NM_006231.4(POLE):c.84A>T (p.Ser28=) rs774280853 0.00001
NM_006258.4(PRKG1):c.585C>T (p.Thr195=) rs139104275 0.00001
NM_006270.5(RRAS):c.74C>T (p.Pro25Leu) rs558985706 0.00001
NM_006506.5(RASA2):c.108G>A (p.Val36=) rs777913288 0.00001
NM_006506.5(RASA2):c.1449T>C (p.Tyr483=) rs772636003 0.00001
NM_006506.5(RASA2):c.792C>G (p.Val264=) rs771687765 0.00001
NM_006516.4(SLC2A1):c.1069C>T (p.Leu357=) rs755679518 0.00001
NM_006516.4(SLC2A1):c.939C>T (p.Ser313=) rs775408842 0.00001
NM_006767.4(LZTR1):c.1173C>T (p.His391=) rs761619498 0.00001
NM_006767.4(LZTR1):c.1971A>G (p.Ala657=) rs764398850 0.00001
NM_006767.4(LZTR1):c.1986G>A (p.Ala662=) rs779018174 0.00001
NM_006767.4(LZTR1):c.2145C>T (p.Pro715=) rs769927418 0.00001
NM_006767.4(LZTR1):c.519C>T (p.Val173=) rs1359944207 0.00001
NM_006767.4(LZTR1):c.588C>T (p.Asn196=) rs752462405 0.00001
NM_006767.4(LZTR1):c.723T>C (p.Phe241=) rs138965288 0.00001
NM_006767.4(LZTR1):c.786C>T (p.Asp262=) rs759517574 0.00001
NM_006912.6(RIT1):c.107-9C>G rs200597833 0.00001
NM_006939.4(SOS2):c.1059G>A (p.Glu353=) rs1231657921 0.00001
NM_006939.4(SOS2):c.1211C>T (p.Pro404Leu) rs201265921 0.00001
NM_006939.4(SOS2):c.1446T>C (p.Ser482=) rs1468565433 0.00001
NM_006939.4(SOS2):c.2190A>G (p.Ser730=) rs1424881275 0.00001
NM_006939.4(SOS2):c.3147A>G (p.Ser1049=) rs750291417 0.00001
NM_006939.4(SOS2):c.3573T>G (p.Val1191=) rs756940411 0.00001
NM_006939.4(SOS2):c.3774G>A (p.Ser1258=) rs747521589 0.00001
NM_006939.4(SOS2):c.3825T>C (p.Tyr1275=) rs1163199209 0.00001
NM_006939.4(SOS2):c.3954A>G (p.Pro1318=) rs751408063 0.00001
NM_006939.4(SOS2):c.396T>C (p.Ala132=) rs774402309 0.00001
NM_006939.4(SOS2):c.813C>T (p.Ser271=) rs371598827 0.00001
NM_006939.4(SOS2):c.958C>T (p.Leu320=) rs777858898 0.00001
NM_006946.4(SPTBN2):c.1155G>A (p.Thr385=) rs773673472 0.00001
NM_006946.4(SPTBN2):c.6138C>T (p.Asp2046=) rs766058704 0.00001
NM_007078.3(LDB3):c.1105A>G (p.Ser369Gly) rs181700296 0.00001
NM_007078.3(LDB3):c.1371A>T (p.Pro457=) rs780588100 0.00001
NM_007078.3(LDB3):c.2179T>C (p.Leu727=) rs777876844 0.00001
NM_007078.3(LDB3):c.550A>G (p.Lys184Glu) rs774886148 0.00001
NM_007078.3(LDB3):c.81C>G (p.Leu27=) rs1554844351 0.00001
NM_007078.3(LDB3):c.888A>G (p.Arg296=) rs776143895 0.00001
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) rs758102180 0.00001
NM_007194.4(CHEK2):c.132C>T (p.Ser44=) rs199715101 0.00001
NM_007194.4(CHEK2):c.1357G>C (p.Ala453Pro) rs763395924 0.00001
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425 0.00001
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys) rs17883172 0.00001
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=) rs758555487 0.00001
NM_007194.4(CHEK2):c.381A>G (p.Glu127=) rs199929178 0.00001
NM_007294.4(BRCA1):c.1026G>A (p.Leu342=) rs1171571879 0.00001
NM_007294.4(BRCA1):c.1081T>C (p.Ser361Pro) rs80356946 0.00001
NM_007294.4(BRCA1):c.1113T>C (p.Pro371=) rs876658619 0.00001
NM_007294.4(BRCA1):c.1275T>A (p.Ser425=) rs786201160 0.00001
NM_007294.4(BRCA1):c.134+15G>A rs863224417 0.00001
NM_007294.4(BRCA1):c.1386G>A (p.Gly462=) rs876659749 0.00001
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln) rs199540030 0.00001
NM_007294.4(BRCA1):c.1401G>A (p.Lys467=) rs786201323 0.00001
NM_007294.4(BRCA1):c.1524T>C (p.Pro508=) rs200616937 0.00001
NM_007294.4(BRCA1):c.1827T>C (p.Asn609=) rs757657445 0.00001
NM_007294.4(BRCA1):c.1866G>A (p.Ala622=) rs1800064 0.00001
NM_007294.4(BRCA1):c.1878A>G (p.Val626=) rs8176154 0.00001
NM_007294.4(BRCA1):c.1924G>C (p.Asp642His) rs80357344 0.00001
NM_007294.4(BRCA1):c.1944A>G (p.Glu648=) rs876660781 0.00001
NM_007294.4(BRCA1):c.1950A>T (p.Ile650=) rs1060504579 0.00001
NM_007294.4(BRCA1):c.1959A>G (p.Lys653=) rs767530204 0.00001
NM_007294.4(BRCA1):c.2207A>C (p.Glu736Ala) rs397507196 0.00001
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met) rs80357209 0.00001
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val) rs80356948 0.00001
NM_007294.4(BRCA1):c.2497T>C (p.Leu833=) rs887578121 0.00001
NM_007294.4(BRCA1):c.2580A>G (p.Thr860=) rs556684572 0.00001
NM_007294.4(BRCA1):c.2775C>T (p.Ile925=) rs786201104 0.00001
NM_007294.4(BRCA1):c.2820T>C (p.Asp940=) rs1414992991 0.00001
NM_007294.4(BRCA1):c.2860C>T (p.Leu954=) rs730881452 0.00001
NM_007294.4(BRCA1):c.2920T>C (p.Leu974=) rs763845063 0.00001
NM_007294.4(BRCA1):c.2935C>T (p.Arg979Cys) rs80356970 0.00001
NM_007294.4(BRCA1):c.301+10G>A rs80358001 0.00001
NM_007294.4(BRCA1):c.303T>C (p.Tyr101=) rs80356936 0.00001
NM_007294.4(BRCA1):c.3060A>G (p.Pro1020=) rs781435355 0.00001
NM_007294.4(BRCA1):c.3327A>C (p.Lys1109Asn) rs41293449 0.00001
NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile) rs80357228 0.00001
NM_007294.4(BRCA1):c.3576T>C (p.Pro1192=) rs766447664 0.00001
NM_007294.4(BRCA1):c.3596C>T (p.Ala1199Val) rs587782458 0.00001
NM_007294.4(BRCA1):c.3601G>A (p.Gly1201Ser) rs55725337 0.00001
NM_007294.4(BRCA1):c.3684C>T (p.His1228=) rs786201623 0.00001
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met) rs80357388 0.00001
NM_007294.4(BRCA1):c.3738C>T (p.Thr1246=) rs778655093 0.00001
NM_007294.4(BRCA1):c.378A>G (p.Gln126=) rs786201256 0.00001
NM_007294.4(BRCA1):c.3956G>A (p.Gly1319Asp) rs587782634 0.00001
NM_007294.4(BRCA1):c.4047G>A (p.Thr1349=) rs758515222 0.00001
NM_007294.4(BRCA1):c.4081A>C (p.Met1361Leu) rs80357218 0.00001
NM_007294.4(BRCA1):c.4097-20C>T rs80358169 0.00001
NM_007294.4(BRCA1):c.4181C>T (p.Thr1394Ile) rs397507226 0.00001
NM_007294.4(BRCA1):c.4185+9C>T rs80358034 0.00001
NM_007294.4(BRCA1):c.4209C>T (p.Asn1403=) rs786201224 0.00001
NM_007294.4(BRCA1):c.420T>C (p.Ser140=) rs730881448 0.00001
NM_007294.4(BRCA1):c.4332T>C (p.Asn1444=) rs752824502 0.00001
NM_007294.4(BRCA1):c.4380T>C (p.Ser1460=) rs786203100 0.00001
NM_007294.4(BRCA1):c.4635C>T (p.His1545=) rs373686790 0.00001
NM_007294.4(BRCA1):c.4676-16C>G rs80358067 0.00001
NM_007294.4(BRCA1):c.4710C>T (p.Leu1570=) rs786201839 0.00001
NM_007294.4(BRCA1):c.4767T>G (p.Arg1589=) rs587780864 0.00001
NM_007294.4(BRCA1):c.4776C>G (p.Asn1592Lys) rs761925468 0.00001
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943 0.00001
NM_007294.4(BRCA1):c.4845T>C (p.Ala1615=) rs144588397 0.00001
NM_007294.4(BRCA1):c.4914A>G (p.Glu1638=) rs786201216 0.00001
NM_007294.4(BRCA1):c.4987-11T>C rs80358170 0.00001
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=) rs786203868 0.00001
NM_007294.4(BRCA1):c.5124G>A (p.Ala1708=) rs1057520432 0.00001
NM_007294.4(BRCA1):c.5194-16G>A rs368058346 0.00001
NM_007294.4(BRCA1):c.5317A>T (p.Thr1773Ser) rs80357324 0.00001
NM_007294.4(BRCA1):c.5332+15G>C rs80358148 0.00001
NM_007294.4(BRCA1):c.5406+17C>T rs1057522773 0.00001
NM_007294.4(BRCA1):c.5415C>T (p.His1805=) rs1060504559 0.00001
NM_007294.4(BRCA1):c.5416C>G (p.Pro1806Ala) rs80357241 0.00001
NM_007294.4(BRCA1):c.5439T>C (p.Asp1813=) rs760396669 0.00001
NM_007294.4(BRCA1):c.543A>G (p.Glu181=) rs397507250 0.00001
NM_007294.4(BRCA1):c.5456A>G (p.Asn1819Ser) rs80357286 0.00001
NM_007294.4(BRCA1):c.547+8T>G rs762224894 0.00001
NM_007294.4(BRCA1):c.548-18T>G rs397507251 0.00001
NM_007294.4(BRCA1):c.5514G>T (p.Val1838=) rs786201248 0.00001
NM_007294.4(BRCA1):c.5550G>C (p.Leu1850=) rs786201502 0.00001
NM_007294.4(BRCA1):c.5586C>T (p.His1862=) rs774127304 0.00001
NM_007294.4(BRCA1):c.564A>G (p.Glu188=) rs768065826 0.00001
NM_007294.4(BRCA1):c.699A>G (p.Val233=) rs786202162 0.00001
NM_007294.4(BRCA1):c.6T>C (p.Asp2=) rs754763517 0.00001
NM_007294.4(BRCA1):c.716A>G (p.His239Arg) rs80357396 0.00001
NM_007294.4(BRCA1):c.768G>A (p.Arg256=) rs746067447 0.00001
NM_007294.4(BRCA1):c.804C>T (p.Asn268=) rs771076131 0.00001
NM_007294.4(BRCA1):c.825C>T (p.Gly275=) rs397509328 0.00001
NM_007294.4(BRCA1):c.837T>C (p.His279=) rs775477245 0.00001
NM_007294.4(BRCA1):c.879T>G (p.Thr293=) rs139433219 0.00001
NM_007294.4(BRCA1):c.975G>A (p.Lys325=) rs786201624 0.00001
NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln) rs80357464 0.00001
NM_007294.4(BRCA1):c.996G>T (p.Arg332=) rs80356836 0.00001
NM_012388.4(BLOC1S6):c.313-9C>T rs765107661 0.00001
NM_013275.6(ANKRD11):c.5823C>T (p.Ala1941=) rs775856441 0.00001
NM_013975.4(LIG3):c.1440T>C (p.Pro480=) rs193922690 0.00001
NM_013975.4(LIG3):c.2211G>A (p.Thr737=) rs368207452 0.00001
NM_014000.3(VCL):c.2924G>A (p.Arg975Gln) rs767325003 0.00001
NM_014009.4(FOXP3):c.959C>A (p.Thr320Lys) rs781881326 0.00001
NM_014697.3(NOS1AP):c.1275G>A (p.Leu425=) rs879200476 0.00001
NM_014697.3(NOS1AP):c.528G>A (p.Thr176=) rs769901011 0.00001
NM_014845.6(FIG4):c.497+14T>G rs756070677 0.00001
NM_014874.4(MFN2):c.2204+10G>T rs1445631790 0.00001
NM_015443.4(KANSL1):c.2203+18G>A rs764721407 0.00001
NM_015488.5(PNKD):c.1074G>A (p.Pro358=) rs148953301 0.00001
NM_015627.3(LDLRAP1):c.774G>T (p.Ala258=) rs755499671 0.00001
NM_016203.4(PRKAG2):c.1234-7C>T rs1456377814 0.00001
NM_016203.4(PRKAG2):c.466+19T>C rs376621063 0.00001
NM_016203.4(PRKAG2):c.582G>A (p.Ser194=) rs756215060 0.00001
NM_016938.5(EFEMP2):c.927C>T (p.Cys309=) rs766494495 0.00001
NM_017534.6(MYH2):c.3263+10A>T rs771160529 0.00001
NM_017617.5(NOTCH1):c.27C>G (p.Leu9=) rs1422526202 0.00001
NM_017617.5(NOTCH1):c.3075C>T (p.Cys1025=) rs764208271 0.00001
NM_017617.5(NOTCH1):c.3643+9C>T rs764985096 0.00001
NM_017617.5(NOTCH1):c.3990C>T (p.Arg1330=) rs775448292 0.00001
NM_017617.5(NOTCH1):c.429G>A (p.Pro143=) rs757406877 0.00001
NM_017617.5(NOTCH1):c.4428C>T (p.Gly1476=) rs765751888 0.00001
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val) rs774374213 0.00001
NM_017617.5(NOTCH1):c.6768G>A (p.Ala2256=) rs575575412 0.00001
NM_017668.3(NDE1):c.984A>G (p.Thr328=) rs2040630480 0.00001
NM_020297.4(ABCC9):c.1194C>T (p.Leu398=) rs1430745818 0.00001
NM_020297.4(ABCC9):c.957T>C (p.Ser319=) rs768245158 0.00001
NM_020686.6(ABAT):c.541-10A>G rs771274045 0.00001
NM_020778.5(ALPK3):c.24C>T (p.Ser8=) rs1301150493 0.00001
NM_020919.4(ALS2):c.1032A>G (p.Ala344=) rs1002785073 0.00001
NM_020975.6(RET):c.1386G>A (p.Ser462=) rs587780807 0.00001
NM_021072.4(HCN1):c.168C>T (p.Ser56=) rs996210990 0.00001
NM_021098.3(CACNA1H):c.4476+16G>A rs746670693 0.00001
NM_022114.4(PRDM16):c.2539A>T (p.Met847Leu) rs369624816 0.00001
NM_022437.3(ABCG8):c.12G>A (p.Lys4=) rs1226302403 0.00001
NM_024312.5(GNPTAB):c.2665T>C (p.Leu889=) rs139215843 0.00001
NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs) rs746672224 0.00001
NM_024334.3(TMEM43):c.873C>T (p.Phe291=) rs1452047536 0.00001
NM_024334.3(TMEM43):c.99G>A (p.Ser33=) rs147710692 0.00001
NM_024422.6(DSC2):c.1347A>G (p.Pro449=) rs1157738158 0.00001
NM_024422.6(DSC2):c.2104T>C (p.Leu702=) rs753742489 0.00001
NM_024422.6(DSC2):c.2691A>G (p.Ala897=) rs555492553 0.00001
NM_024422.6(DSC2):c.561T>C (p.Tyr187=) rs749063028 0.00001
NM_024675.4(PALB2):c.1119G>A (p.Glu373=) rs45623436 0.00001
NM_024675.4(PALB2):c.1188C>T (p.Cys396=) rs587780817 0.00001
NM_024675.4(PALB2):c.1311A>G (p.Lys437=) rs190489275 0.00001
NM_024675.4(PALB2):c.1446C>G (p.Leu482=) rs368759893 0.00001
NM_024675.4(PALB2):c.1569A>G (p.Ala523=) rs1200825980 0.00001
NM_024675.4(PALB2):c.1792C>T (p.Leu598=) rs746702349 0.00001
NM_024675.4(PALB2):c.1923A>G (p.Lys641=) rs775283927 0.00001
NM_024675.4(PALB2):c.1941T>C (p.His647=) rs745467835 0.00001
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln) rs587778586 0.00001
NM_024675.4(PALB2):c.2478C>T (p.Asn826=) rs786201885 0.00001
NM_024675.4(PALB2):c.2673C>T (p.Cys891=) rs78179744 0.00001
NM_024675.4(PALB2):c.2881C>T (p.Leu961=) rs61755166 0.00001
NM_024675.4(PALB2):c.351T>C (p.Pro117=) rs763330757 0.00001
NM_024675.4(PALB2):c.372C>T (p.Thr124=) rs786201904 0.00001
NM_024675.4(PALB2):c.405T>C (p.Pro135=) rs786201586 0.00001
NM_024675.4(PALB2):c.660T>C (p.Ser220=) rs571762192 0.00001
NM_024675.4(PALB2):c.831C>T (p.Asp277=) rs62625273 0.00001
NM_024675.4(PALB2):c.84C>T (p.Tyr28=) rs761533286 0.00001
NM_024675.4(PALB2):c.899C>T (p.Thr300Ile) rs528541334 0.00001
NM_024747.6(HPS6):c.567T>G (p.Pro189=) rs1015249401 0.00001
NM_025136.4(OPA3):c.123C>G (p.Ile41Met) rs763083098 0.00001
NM_030662.4(MAP2K2):c.1092A>G (p.Thr364=) rs779378237 0.00001
NM_030662.4(MAP2K2):c.207C>T (p.Asp69=) rs199850535 0.00001
NM_030662.4(MAP2K2):c.357G>A (p.Leu119=) rs1377039329 0.00001
NM_030662.4(MAP2K2):c.384G>A (p.Pro128=) rs727503156 0.00001
NM_030662.4(MAP2K2):c.390C>T (p.Ile130=) rs749956316 0.00001
NM_030662.4(MAP2K2):c.639C>T (p.Phe213=) rs727504818 0.00001
NM_030662.4(MAP2K2):c.699C>T (p.Tyr233=) rs1044588100 0.00001
NM_030662.4(MAP2K2):c.990T>A (p.Pro330=) rs1454910757 0.00001
NM_030777.4(SLC2A10):c.1371G>A (p.Ala457=) rs558894862 0.00001
NM_031844.3(HNRNPU):c.1875G>C (p.Gly625=) rs774533310 0.00001
NM_032040.5(CCDC8):c.167C>T (p.Ala56Val) rs567845896 0.00001
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=) rs773489367 0.00001
NM_032043.3(BRIP1):c.1989C>A (p.Thr663=) rs376628979 0.00001
NM_032043.3(BRIP1):c.2370A>G (p.Lys790=) rs372122365 0.00001
NM_032043.3(BRIP1):c.2427T>C (p.Gly809=) rs754927538 0.00001
NM_032043.3(BRIP1):c.2576-7T>C rs759408257 0.00001
NM_032043.3(BRIP1):c.2811T>C (p.Asp937=) rs374335608 0.00001
NM_032043.3(BRIP1):c.315A>G (p.Ser105=) rs1555617827 0.00001
NM_032043.3(BRIP1):c.357T>C (p.Asn119=) rs786202477 0.00001
NM_032043.3(BRIP1):c.630C>G (p.Pro210=) rs864622510 0.00001
NM_032043.3(BRIP1):c.684G>A (p.Glu228=) rs876659909 0.00001
NM_032043.3(BRIP1):c.867C>T (p.Val289=) rs147739458 0.00001
NM_032578.4(MYPN):c.1071T>C (p.Tyr357=) rs1323471969 0.00001
NM_033118.4(MYLK2):c.1764G>A (p.Ser588=) rs758879929 0.00001
NM_033337.3(CAV3):c.114+11C>T rs779911803 0.00001
NM_052867.4(NALCN):c.3579C>T (p.Arg1193=) rs1458379634 0.00001
NM_053025.4(MYLK):c.2227G>A (p.Ala743Thr) rs145191000 0.00001
NM_053025.4(MYLK):c.3867C>T (p.Ser1289=) rs561502268 0.00001
NM_053025.4(MYLK):c.4392C>T (p.Tyr1464=) rs565217509 0.00001
NM_053025.4(MYLK):c.4416-14C>T rs1392123047 0.00001
NM_053025.4(MYLK):c.4700G>A (p.Arg1567Gln) rs757766496 0.00001
NM_053025.4(MYLK):c.593A>G (p.Asn198Ser) rs201835018 0.00001
NM_058216.3(RAD51C):c.141C>T (p.Ser47=) rs568912602 0.00001
NM_058216.3(RAD51C):c.234A>G (p.Thr78=) rs730881929 0.00001
NM_058216.3(RAD51C):c.537C>T (p.His179=) rs372385738 0.00001
NM_138694.4(PKHD1):c.5556T>C (p.His1852=) rs549418638 0.00001
NM_138927.4(SON):c.3291T>C (p.Ser1097=) rs781001098 0.00001
NM_139076.3(ABRAXAS1):c.54C>T (p.Leu18=) rs769550002 0.00001
NM_139076.3(ABRAXAS1):c.578G>A (p.Arg193Gln) rs138594808 0.00001
NM_139076.3(ABRAXAS1):c.777A>G (p.Gly259=) rs1293484717 0.00001
NM_139076.3(ABRAXAS1):c.952G>A (p.Asp318Asn) rs775345294 0.00001
NM_139076.3(ABRAXAS1):c.957A>G (p.Val319=) rs746068286 0.00001
NM_144670.6(A2ML1):c.1704C>G (p.Pro568=) rs780752277 0.00001
NM_144670.6(A2ML1):c.906C>T (p.Asp302=) rs1943356243 0.00001
NM_144997.7(FLCN):c.681G>A (p.Thr227=) rs781035304 0.00001
NM_152594.3(SPRED1):c.1191C>T (p.Asp397=) rs749745659 0.00001
NM_152594.3(SPRED1):c.15G>C (p.Thr5=) rs1278027767 0.00001
NM_152594.3(SPRED1):c.211G>A (p.Val71Ile) rs369150309 0.00001
NM_152594.3(SPRED1):c.60G>C (p.Val20=) rs367745143 0.00001
NM_152594.3(SPRED1):c.954A>G (p.Leu318=) rs753357510 0.00001
NM_152594.3(SPRED1):c.990T>G (p.Gly330=) rs1184835258 0.00001
NM_170707.4(LMNA):c.1680C>T (p.Asp560=) rs17847249 0.00001
NM_172107.4(KCNQ2):c.822G>A (p.Thr274=) rs377485599 0.00001
NM_174934.4(SCN4B):c.78C>T (p.Pro26=) rs1326784999 0.00001
NM_174936.4(PCSK9):c.2038C>T (p.Arg680Trp) rs533555352 0.00001
NM_174936.4(PCSK9):c.960C>T (p.Asp320=) rs910368517 0.00001
NM_182961.4(SYNE1):c.24786T>G (p.Ala8262=) rs978851902 0.00001
NM_201596.3(CACNB2):c.510C>T (p.Ile170=) rs760606646 0.00001
NM_206933.4(USH2A):c.9259-14A>C rs561590242 0.00001
NM_206937.2(LIG4):c.1236T>A (p.Asn412Lys) rs755358293 0.00001
NM_207122.2(EXT2):c.156C>G (p.Ser52=) rs766597724 0.00001
NC_000007.13:g.(66098432_66103239)_(66108217_?)dup
NC_000007.13:g.(?_151832009)_(152055761_152132710)dup
NC_000010.10:g.(14981869_14987103)_(14996432_?)dup
NC_000010.10:g.(?_12110915)_(12165228_?)dup
NC_000018.9:g.(44222000_44229117)_(44236997_?)dup
NC_000019.9:g.(?_45854648)_(45873846_?)dup
NC_000023.10:g.(32591964_32613873)_(32613994_32632419)dup
NM_000017.4(ACADS):c.879C>T (p.Tyr293=)
NM_000030.3(AGXT):c.165+19_166-48dup rs180177174
NM_000032.5(ALAS2):c.415+16T>A
NM_000033.4(ABCD1):c.1634+13G>A
NM_000038.6(APC):c.168A>G (p.Glu56=) rs1554069532
NM_000038.6(APC):c.1962A>G (p.Gln654=) rs1057523515
NM_000038.6(APC):c.2031C>T (p.Val677=) rs769363082
NM_000038.6(APC):c.2130C>T (p.Leu710=) rs1057521787
NM_000038.6(APC):c.2346G>A (p.Lys782=) rs1554084084
NM_000038.6(APC):c.2589C>T (p.Tyr863=) rs1561578229
NM_000038.6(APC):c.2655C>T (p.Ala885=) rs1554084348
NM_000038.6(APC):c.2775C>T (p.Ser925=) rs864622701
NM_000038.6(APC):c.3045T>C (p.Asp1015=) rs1554084657
NM_000038.6(APC):c.3151A>C (p.Arg1051=) rs757981620
NM_000038.6(APC):c.3420T>C (p.Pro1140=) rs2149891576
NM_000038.6(APC):c.3612A>G (p.Gln1204=) rs864622196
NM_000038.6(APC):c.3783T>A (p.Thr1261=) rs1765520410
NM_000038.6(APC):c.3837T>G (p.Ser1279=) rs1057522493
NM_000038.6(APC):c.3957T>A (p.Pro1319=) rs773123653
NM_000038.6(APC):c.417A>G (p.Lys139=) rs1554069848
NM_000038.6(APC):c.4200G>A (p.Ser1400=) rs367782881
NM_000038.6(APC):c.4212C>T (p.Ser1404=) rs144655979
NM_000038.6(APC):c.4317T>A (p.Pro1439=) rs769586752
NM_000038.6(APC):c.4320A>T (p.Pro1440=) rs1561591372
NM_000038.6(APC):c.4326T>C (p.Pro1442=) rs67622085
NM_000038.6(APC):c.4668T>C (p.Thr1556=) rs1554086074
NM_000038.6(APC):c.4680A>G (p.Glu1560=) rs1765740199
NM_000038.6(APC):c.4704T>C (p.Asp1568=) rs1554086117
NM_000038.6(APC):c.4755A>G (p.Thr1585=) rs2149922960
NM_000038.6(APC):c.4765C>T (p.Arg1589Cys) rs72541813
NM_000038.6(APC):c.4770A>G (p.Lys1590=) rs973476980
NM_000038.6(APC):c.4902G>A (p.Pro1634=) rs876659202
NM_000038.6(APC):c.5097G>A (p.Glu1699=) rs1561597648
NM_000038.6(APC):c.5250C>T (p.Val1750=) rs2229997
NM_000038.6(APC):c.5378C>G (p.Ala1793Gly) rs764203580
NM_000038.6(APC):c.537C>A (p.Ser179=) rs149736402
NM_000038.6(APC):c.5652A>G (p.Ala1884=) rs876658458
NM_000038.6(APC):c.5907G>C (p.Leu1969=) rs200881543
NM_000038.6(APC):c.60C>T (p.Asn20=) rs780155240
NM_000038.6(APC):c.6162A>G (p.Ser2054=) rs776160547
NM_000038.6(APC):c.6453A>C (p.Thr2151=) rs1057524298
NM_000038.6(APC):c.6510A>G (p.Pro2170=) rs138571760
NM_000038.6(APC):c.6789A>G (p.Glu2263=) rs1057521959
NM_000038.6(APC):c.6900T>C (p.Ser2300=) rs202012533
NM_000038.6(APC):c.7038A>T (p.Pro2346=) rs1580677722
NM_000038.6(APC):c.7161T>C (p.Asn2387=) rs1580679289
NM_000038.6(APC):c.7350A>G (p.Pro2450=) rs1057523812
NM_000038.6(APC):c.7491G>T (p.Ser2497=) rs776327733
NM_000038.6(APC):c.7696A>C (p.Arg2566=) rs1060504883
NM_000038.6(APC):c.775C>A (p.Arg259=) rs762117133
NM_000038.6(APC):c.7863T>A (p.Ser2621=) rs1561618785
NM_000038.6(APC):c.8043G>A (p.Pro2681=) rs149347068
NM_000039.3(APOA1):c.162G>C (p.Val54=) rs193922099
NM_000044.6(AR):c.972C>T (p.Ser324=)
NM_000046.5(ARSB):c.111G>C (p.Ser37=) rs2112583225
NM_000051.4(ATM):c.1020C>A (p.Ala340=) rs546927781
NM_000051.4(ATM):c.1020C>T (p.Ala340=) rs546927781
NM_000051.4(ATM):c.1212G>A (p.Gln404=) rs786201519
NM_000051.4(ATM):c.1236-10T>C rs1364244917
NM_000051.4(ATM):c.1350A>G (p.Glu450=) rs2135319715
NM_000051.4(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.4(ATM):c.2058C>G (p.Leu686=) rs761397203
NM_000051.4(ATM):c.2058C>T (p.Leu686=) rs761397203
NM_000051.4(ATM):c.2125-5_2125-4dup
NM_000051.4(ATM):c.2148C>G (p.Val716=) rs1800701
NM_000051.4(ATM):c.2233T>C (p.Leu745=) rs1293287271
NM_000051.4(ATM):c.2355T>C (p.Arg785=) rs1555075801
NM_000051.4(ATM):c.2538A>G (p.Leu846=) rs567045160
NM_000051.4(ATM):c.2559A>T (p.Ser853=) rs2081307609
NM_000051.4(ATM):c.2634C>G (p.Thr878=) rs771444818
NM_000051.4(ATM):c.2703C>G (p.Leu901=) rs1315907364
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg) rs3218708
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2805G>T (p.Thr935=) rs55934812
NM_000051.4(ATM):c.3027G>A (p.Glu1009=) rs1060504299
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000051.4(ATM):c.3309T>C (p.Asp1103=)
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.4(ATM):c.3420C>T (p.Asn1140=) rs1329688204
NM_000051.4(ATM):c.3759G>A (p.Lys1253=)
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg) rs568451087
NM_000051.4(ATM):c.4018T>C (p.Leu1340=) rs1057522187
NM_000051.4(ATM):c.4020A>G (p.Leu1340=) rs1555095888
NM_000051.4(ATM):c.4110G>A (p.Gly1370=) rs2082638172
NM_000051.4(ATM):c.4404T>C (p.Val1468=) rs1555097801
NM_000051.4(ATM):c.4545C>T (p.Asn1515=) rs764039368
NM_000051.4(ATM):c.4620C>T (p.Asp1540=) rs1329153013
NM_000051.4(ATM):c.4656T>C (p.Asn1552=) rs876658379
NM_000051.4(ATM):c.489G>A (p.Gln163=) rs1057523087
NM_000051.4(ATM):c.4917G>A (p.Pro1639=) rs140425622
NM_000051.4(ATM):c.5145G>A (p.Leu1715=) rs786202765
NM_000051.4(ATM):c.5346A>G (p.Lys1782=) rs1555106345
NM_000051.4(ATM):c.5476T>C (p.Leu1826=) rs1555106563
NM_000051.4(ATM):c.5675-4T>A rs56075338
NM_000051.4(ATM):c.5715A>G (p.Ser1905=) rs1057524579
NM_000051.4(ATM):c.5769T>C (p.Ser1923=) rs1060504280
NM_000051.4(ATM):c.5865A>G (p.Leu1955=) rs1555110432
NM_000051.4(ATM):c.5874A>G (p.Ala1958=) rs1591746375
NM_000051.4(ATM):c.5961T>G (p.Ser1987=) rs1060504265
NM_000051.4(ATM):c.6087C>T (p.Pro2029=) rs1060504316
NM_000051.4(ATM):c.6100C>A (p.Arg2034=) rs532480170
NM_000051.4(ATM):c.6120A>G (p.Ala2040=) rs1565499622
NM_000051.4(ATM):c.6330C>T (p.Asp2110=) rs759029705
NM_000051.4(ATM):c.6378A>G (p.Glu2126=) rs1060504297
NM_000051.4(ATM):c.6516A>C (p.Thr2172=) rs576254168
NM_000051.4(ATM):c.6552C>T (p.Ser2184=) rs565124064
NM_000051.4(ATM):c.6681C>A (p.Arg2227=) rs775850434
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys) rs150503164
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile) rs150503164
NM_000051.4(ATM):c.7038A>G (p.Ala2346=) rs146167034
NM_000051.4(ATM):c.7164C>A (p.Leu2388=) rs1239532344
NM_000051.4(ATM):c.7248C>T (p.Leu2416=) rs750513866
NM_000051.4(ATM):c.7284G>A (p.Arg2428=) rs1591152279
NM_000051.4(ATM):c.7354C>T (p.Leu2452=)
NM_000051.4(ATM):c.7425A>G (p.Leu2475=) rs1555123162
NM_000051.4(ATM):c.795T>A (p.Ile265=) rs1290222131
NM_000051.4(ATM):c.8046T>C (p.Thr2682=) rs876660435
NM_000051.4(ATM):c.8094A>G (p.Leu2698=) rs786203569
NM_000051.4(ATM):c.8295T>C (p.Gly2765=)
NM_000051.4(ATM):c.8559G>A (p.Thr2853=) rs368058202
NM_000051.4(ATM):c.8562C>T (p.Arg2854=) rs878853550
NM_000051.4(ATM):c.8715A>G (p.Thr2905=) rs786202933
NM_000051.4(ATM):c.8868A>T (p.Pro2956=) rs1157772894
NM_000051.4(ATM):c.9084T>C (p.Val3028=) rs786203210
NM_000051.4(ATM):c.9168G>A (p.Val3056=) rs1591388522
NM_000053.4(ATP7B):c.1762A>C (p.Arg588=) rs1566559391
NM_000053.4(ATP7B):c.1965G>T (p.Leu655=) rs574041847
NM_000053.4(ATP7B):c.3021C>A (p.Ile1007=) rs1566484621
NM_000053.4(ATP7B):c.3858C>G (p.Thr1286=) rs558520674
NM_000053.4(ATP7B):c.4185G>C (p.Leu1395=) rs368801566
NM_000054.7(AVPR2):c.191GGCGGGGCC[1] (p.64RRG[1]) rs782292545
NM_000057.4(BLM):c.234C>T (p.Pro78=) rs970793829
NM_000059.3(BRCA2):c.7435+10G>A rs81002793
NM_000059.4(BRCA2):c.10024G>T (p.Glu3342Ter) rs28897761
NM_000059.4(BRCA2):c.10074A>G (p.Gly3358=) rs2137666332
NM_000059.4(BRCA2):c.10094_10095insGAATTATATC (p.Ser3366fs) rs1064792995
NM_000059.4(BRCA2):c.10119C>T (p.Pro3373=) rs1555290047
NM_000059.4(BRCA2):c.10221T>C (p.Asn3407=) rs786203441
NM_000059.4(BRCA2):c.1074G>T (p.Val358=) rs276174805
NM_000059.4(BRCA2):c.114A>G (p.Glu38=) rs1555280345
NM_000059.4(BRCA2):c.123C>T (p.Pro41=) rs786201783
NM_000059.4(BRCA2):c.1254A>C (p.Ser418=) rs1052409595
NM_000059.4(BRCA2):c.1302A>G (p.Lys434=) rs200552004
NM_000059.4(BRCA2):c.1314T>C (p.Asp438=) rs2072409358
NM_000059.4(BRCA2):c.1353C>T (p.Ser451=) rs1593892607
NM_000059.4(BRCA2):c.1354C>T (p.Leu452=) rs80358424
NM_000059.4(BRCA2):c.1392G>T (p.Val464=) rs1060504613
NM_000059.4(BRCA2):c.1447G>C (p.Ala483Pro) rs80358432
NM_000059.4(BRCA2):c.1487C>T (p.Ser496Phe) rs397507269
NM_000059.4(BRCA2):c.1560T>C (p.Phe520=) rs1566223850
NM_000059.4(BRCA2):c.162CAA[1] (p.Asn56del) rs11571587
NM_000059.4(BRCA2):c.1641A>G (p.Ser547=) rs786203659
NM_000059.4(BRCA2):c.1695C>T (p.Ala565=) rs2072419915
NM_000059.4(BRCA2):c.1713T>C (p.Ser571=) rs1566224162
NM_000059.4(BRCA2):c.1716A>G (p.Val572=) rs1555282031
NM_000059.4(BRCA2):c.1719T>C (p.Ala573=) rs1450934154
NM_000059.4(BRCA2):c.1734T>C (p.Gly578=) rs1555282038
NM_000059.4(BRCA2):c.1836A>G (p.Glu612=) rs1049486589
NM_000059.4(BRCA2):c.1896A>C (p.Ala632=) rs1406171492
NM_000059.4(BRCA2):c.1923T>C (p.Ser641=) rs1057522492
NM_000059.4(BRCA2):c.201G>A (p.Arg67=) rs1012688095
NM_000059.4(BRCA2):c.204A>G (p.Lys68=) rs1555280379
NM_000059.4(BRCA2):c.2070A>G (p.Glu690=)
NM_000059.4(BRCA2):c.2157T>C (p.Asn719=) rs1064797382
NM_000059.4(BRCA2):c.2181A>C (p.Ser727=) rs876660424
NM_000059.4(BRCA2):c.2211A>G (p.Ala737=) rs587780647
NM_000059.4(BRCA2):c.2262A>G (p.Gln754=) rs1057520621
NM_000059.4(BRCA2):c.228A>G (p.Ser76=) rs2138705028
NM_000059.4(BRCA2):c.2344C>T (p.Leu782=) rs749810048
NM_000059.4(BRCA2):c.2526A>G (p.Val842=) rs770778164
NM_000059.4(BRCA2):c.258G>A (p.Leu86=) rs2138705379
NM_000059.4(BRCA2):c.2700T>C (p.Asn900=) rs1593897567
NM_000059.4(BRCA2):c.2703T>A (p.Leu901=) rs786201627
NM_000059.4(BRCA2):c.2787A>G (p.Leu929=) rs878853564
NM_000059.4(BRCA2):c.2793A>C (p.Gly931=) rs786201315
NM_000059.4(BRCA2):c.2799A>G (p.Thr933=) rs2072465072
NM_000059.4(BRCA2):c.279T>A (p.Ser93=) rs1555280429
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.2820A>G (p.Gln940=) rs771061558
NM_000059.4(BRCA2):c.2886T>C (p.His962=) rs786202807
NM_000059.4(BRCA2):c.2892A>G (p.Lys964=) rs587778119
NM_000059.4(BRCA2):c.2940T>C (p.Asp980=) rs1555282961
NM_000059.4(BRCA2):c.2955A>G (p.Lys985=) rs1555282971
NM_000059.4(BRCA2):c.3081C>T (p.Ser1027=)
NM_000059.4(BRCA2):c.317-17T>A rs1593885822
NM_000059.4(BRCA2):c.317-19_317-12del rs1555280834
NM_000059.4(BRCA2):c.3213T>C (p.His1071=) rs863224304
NM_000059.4(BRCA2):c.3249T>C (p.Asn1083=) rs876659029
NM_000059.4(BRCA2):c.3252T>C (p.Ser1084=) rs1060502412
NM_000059.4(BRCA2):c.3285G>A (p.Gln1095=) rs1555283147
NM_000059.4(BRCA2):c.3395_3396delinsGG (p.Lys1132Arg) rs1060502496
NM_000059.4(BRCA2):c.3402C>T (p.Ser1134=) rs1593899435
NM_000059.4(BRCA2):c.3450T>C (p.Thr1150=) rs2072480743
NM_000059.4(BRCA2):c.3459G>A (p.Lys1153=)
NM_000059.4(BRCA2):c.3462C>G (p.Thr1154=) rs4986856
NM_000059.4(BRCA2):c.3513A>G (p.Pro1171=) rs1057521874
NM_000059.4(BRCA2):c.3569G>A (p.Arg1190Gln) rs80358605
NM_000059.4(BRCA2):c.3586T>C (p.Leu1196=) rs1449762196
NM_000059.4(BRCA2):c.3600T>C (p.Cys1200=) rs786203359
NM_000059.4(BRCA2):c.3612T>C (p.Ala1204=) rs863224305
NM_000059.4(BRCA2):c.3636T>C (p.Asn1212=) rs1555283324
NM_000059.4(BRCA2):c.3681G>A (p.Leu1227=) rs758007548
NM_000059.4(BRCA2):c.3765A>G (p.Val1255=) rs41293483
NM_000059.4(BRCA2):c.3786A>C (p.Ser1262=) rs1042077901
NM_000059.4(BRCA2):c.3789T>C (p.Ser1263=) rs876659185
NM_000059.4(BRCA2):c.3822G>A (p.Lys1274=) rs1555283410
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
NM_000059.4(BRCA2):c.3966C>T (p.Asn1322=) rs80358647
NM_000059.4(BRCA2):c.4032T>C (p.Asn1344=) rs1555283514
NM_000059.4(BRCA2):c.4062G>T (p.Thr1354=) rs768735660
NM_000059.4(BRCA2):c.4071A>G (p.Leu1357=) rs140556653
NM_000059.4(BRCA2):c.4077T>C (p.Thr1359=) rs1057520979
NM_000059.4(BRCA2):c.4110C>A (p.Gly1370=) rs758430181
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.4194A>G (p.Ala1398=) rs1355279584
NM_000059.4(BRCA2):c.4206T>C (p.Asn1402=) rs878853580
NM_000059.4(BRCA2):c.420T>C (p.Ser140=) rs1555280871
NM_000059.4(BRCA2):c.4242G>A (p.Thr1414=) rs750495335
NM_000059.4(BRCA2):c.4299G>C (p.Gly1433=) rs1555283699
NM_000059.4(BRCA2):c.430GTT[1] (p.Val145del) rs80359442
NM_000059.4(BRCA2):c.4320A>G (p.Lys1440=) rs769535925
NM_000059.4(BRCA2):c.4338T>C (p.Ile1446=) rs864622144
NM_000059.4(BRCA2):c.4365A>G (p.Glu1455=) rs1555283746
NM_000059.4(BRCA2):c.436C>T (p.Leu146=) rs876658912
NM_000059.4(BRCA2):c.4419C>T (p.Asn1473=) rs2072503843
NM_000059.4(BRCA2):c.4461A>G (p.Lys1487=) rs786201350
NM_000059.4(BRCA2):c.4515C>A (p.Thr1505=) rs1555283817
NM_000059.4(BRCA2):c.4560T>A (p.Thr1520=)
NM_000059.4(BRCA2):c.4560T>C (p.Thr1520=) rs1555283847
NM_000059.4(BRCA2):c.4563A>C (p.Leu1521=) rs206075
NM_000059.4(BRCA2):c.4620C>T (p.Asp1540=) rs1555283875
NM_000059.4(BRCA2):c.475+14C>T rs55698822
NM_000059.4(BRCA2):c.476-16del
NM_000059.4(BRCA2):c.476-9dup rs276174849
NM_000059.4(BRCA2):c.4830G>T (p.Val1610=) rs80359789
NM_000059.4(BRCA2):c.489T>C (p.Ser163=) rs398122787
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala) rs28897731
NM_000059.4(BRCA2):c.5025T>C (p.Cys1675=) rs370591460
NM_000059.4(BRCA2):c.5121T>C (p.Thr1707=) rs1555284078
NM_000059.4(BRCA2):c.5160A>G (p.Ser1720=) rs1555284089
NM_000059.4(BRCA2):c.517-20A>G rs1555281029
NM_000059.4(BRCA2):c.5205A>G (p.Lys1735=) rs1131692115
NM_000059.4(BRCA2):c.5301A>G (p.Lys1767=) rs1555284161
NM_000059.4(BRCA2):c.5349A>G (p.Lys1783=)
NM_000059.4(BRCA2):c.5430T>G (p.Val1810=) rs1060504596
NM_000059.4(BRCA2):c.5529A>T (p.Ala1843=) rs372951842
NM_000059.4(BRCA2):c.5554G>A (p.Val1852Ile) rs80358777
NM_000059.4(BRCA2):c.5559T>C (p.Cys1853=) rs1566232673
NM_000059.4(BRCA2):c.5631C>T (p.Asn1877=) rs374326934
NM_000059.4(BRCA2):c.5634C>T (p.Asn1878=) rs80358784
NM_000059.4(BRCA2):c.5682C>T (p.Tyr1894=) rs41293497
NM_000059.4(BRCA2):c.5700A>G (p.Ser1900=) rs730881591
NM_000059.4(BRCA2):c.5895T>G (p.Leu1965=) rs786201478
NM_000059.4(BRCA2):c.6030C>A (p.Val2010=) rs786201328
NM_000059.4(BRCA2):c.6117A>G (p.Leu2039=) rs1566233950
NM_000059.4(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000059.4(BRCA2):c.6132C>A (p.Gly2044=) rs1057520745
NM_000059.4(BRCA2):c.6195A>G (p.Gln2065=) rs876658875
NM_000059.4(BRCA2):c.6201C>G (p.Ser2067=) rs876659049
NM_000059.4(BRCA2):c.6216C>T (p.Ser2072=) rs786201410
NM_000059.4(BRCA2):c.6225A>C (p.Lys2075Asn) rs80358863
NM_000059.4(BRCA2):c.6264T>A (p.Thr2088=) rs750651726
NM_000059.4(BRCA2):c.627C>A (p.Leu209=) rs28897704
NM_000059.4(BRCA2):c.632-9A>G rs81002855
NM_000059.4(BRCA2):c.63A>G (p.Lys21=) rs1280004443
NM_000059.4(BRCA2):c.6423T>G (p.Gly2141=) rs780721021
NM_000059.4(BRCA2):c.6465C>T (p.Leu2155=) rs746099644
NM_000059.4(BRCA2):c.6534T>C (p.His2178=) rs747048245
NM_000059.4(BRCA2):c.6570A>C (p.Val2190=) rs1210384297
NM_000059.4(BRCA2):c.6585T>C (p.Gly2195=) rs2137528795
NM_000059.4(BRCA2):c.6603T>C (p.Ser2201=) rs786202576
NM_000059.4(BRCA2):c.6606T>C (p.Asp2202=) rs960827657
NM_000059.4(BRCA2):c.6637T>C (p.Ser2213Pro) rs80358890
NM_000059.4(BRCA2):c.67+16A>G rs529148674
NM_000059.4(BRCA2):c.6718C>T (p.Leu2240=) rs762191939
NM_000059.4(BRCA2):c.6720G>A (p.Leu2240=) rs1555284823
NM_000059.4(BRCA2):c.6750A>G (p.Thr2250=) rs864622449
NM_000059.4(BRCA2):c.682-12_682-11del rs276174879
NM_000059.4(BRCA2):c.6831T>C (p.Leu2277=) rs786201481
NM_000059.4(BRCA2):c.6834C>T (p.Ile2278=) rs1566235473
NM_000059.4(BRCA2):c.6841+20T>G rs2137531185
NM_000059.4(BRCA2):c.6855C>T (p.Ile2285=) rs1555285142
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu) rs576279166
NM_000059.4(BRCA2):c.6910T>C (p.Leu2304=) rs1566236971
NM_000059.4(BRCA2):c.6915G>A (p.Lys2305=) rs1555285156
NM_000059.4(BRCA2):c.6938-16_6938-12del rs1566237718
NM_000059.4(BRCA2):c.6938-19_6938-17dup rs765850575
NM_000059.4(BRCA2):c.6938-3T>C rs1400188645
NM_000059.4(BRCA2):c.6952C>A (p.Arg2318=) rs80358920
NM_000059.4(BRCA2):c.6957A>G (p.Arg2319=) rs398122573
NM_000059.4(BRCA2):c.7008-20_7008-17del rs276174887
NM_000059.4(BRCA2):c.7056T>A (p.Pro2352=) rs276174888
NM_000059.4(BRCA2):c.7084T>C (p.Leu2362=) rs2072677643
NM_000059.4(BRCA2):c.7140T>C (p.His2380=) rs1566240860
NM_000059.4(BRCA2):c.7188G>A (p.Leu2396=) rs587780871
NM_000059.4(BRCA2):c.7188G>T (p.Leu2396Phe) rs587780871
NM_000059.4(BRCA2):c.7224A>G (p.Pro2408=) rs276174891
NM_000059.4(BRCA2):c.7242A>T (p.Ser2414=) rs1799955
NM_000059.4(BRCA2):c.7257T>C (p.Val2419=) rs1006696389
NM_000059.4(BRCA2):c.7347T>C (p.Ile2449=) rs1057520563
NM_000059.4(BRCA2):c.7436-10T>C rs398122582
NM_000059.4(BRCA2):c.7436-19A>G rs398122583
NM_000059.4(BRCA2):c.7491G>A (p.Lys2497=) rs786203092
NM_000059.4(BRCA2):c.7506C>T (p.Arg2502=) rs140693106
NM_000059.4(BRCA2):c.7598C>G (p.Ser2533Cys) rs80358987
NM_000059.4(BRCA2):c.7602G>C (p.Ala2534=) rs81002826
NM_000059.4(BRCA2):c.7618-6G>T rs1057520251
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser) rs587781485
NM_000059.4(BRCA2):c.7713A>G (p.Glu2571=)
NM_000059.4(BRCA2):c.7719A>G (p.Leu2573=)
NM_000059.4(BRCA2):c.7749T>C (p.Asp2583=) rs786201284
NM_000059.4(BRCA2):c.7764A>T (p.Ile2588=) rs80359798
NM_000059.4(BRCA2):c.7767C>T (p.Pro2589=) rs2072711060
NM_000059.4(BRCA2):c.7773T>C (p.Asn2591=) rs1566242894
NM_000059.4(BRCA2):c.7803T>C (p.Tyr2601=) rs1566242928
NM_000059.4(BRCA2):c.7806-10A>T rs1555286809
NM_000059.4(BRCA2):c.7806-11del rs755777054
NM_000059.4(BRCA2):c.7872T>C (p.Tyr2624=) rs863224468
NM_000059.4(BRCA2):c.7938C>T (p.Cys2646=) rs1064794927
NM_000059.4(BRCA2):c.7939C>T (p.Leu2647=) rs778391123
NM_000059.4(BRCA2):c.7976+18C>T rs1057521490
NM_000059.4(BRCA2):c.7980T>C (p.Tyr2660=) rs397507949
NM_000059.4(BRCA2):c.7993G>T (p.Asp2665Tyr) rs921017191
NM_000059.4(BRCA2):c.8064C>T (p.Leu2688=) rs1057521686
NM_000059.4(BRCA2):c.807A>G (p.Thr269=) rs142072914
NM_000059.4(BRCA2):c.8084C>T (p.Ser2695Leu) rs80359048
NM_000059.4(BRCA2):c.8124T>C (p.Thr2708=)
NM_000059.4(BRCA2):c.8193G>A (p.Gln2731=) rs1555287034
NM_000059.4(BRCA2):c.8205C>G (p.Pro2735=) rs967189548
NM_000059.4(BRCA2):c.8229C>G (p.Gly2743=) rs1555287054
NM_000059.4(BRCA2):c.8233C>T (p.Leu2745=)
NM_000059.4(BRCA2):c.8301T>C (p.Pro2767=) rs1555287078
NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp) rs28897750
NM_000059.4(BRCA2):c.8352G>A (p.Arg2784=) rs747664806
NM_000059.4(BRCA2):c.8379A>G (p.Gly2793=) rs1131692126
NM_000059.4(BRCA2):c.837C>T (p.Cys279=) rs587781421
NM_000059.4(BRCA2):c.8409G>T (p.Leu2803=) rs2137597275
NM_000059.4(BRCA2):c.8418A>G (p.Ser2806=) rs1555287636
NM_000059.4(BRCA2):c.8488-5T>C rs533806629
NM_000059.4(BRCA2):c.8572C>A (p.Gln2858Lys) rs80359112
NM_000059.4(BRCA2):c.8649A>G (p.Pro2883=) rs786202069
NM_000059.4(BRCA2):c.865A>G (p.Asn289Asp) rs766173
NM_000059.4(BRCA2):c.8668C>T (p.Leu2890=) rs80359127
NM_000059.4(BRCA2):c.8679G>A (p.Gln2893=) rs1566251407
NM_000059.4(BRCA2):c.8697A>G (p.Gln2899=) rs786203707
NM_000059.4(BRCA2):c.8718A>G (p.Glu2906=) rs864622287
NM_000059.4(BRCA2):c.8721A>G (p.Ala2907=) rs2137613242
NM_000059.4(BRCA2):c.8755-18T>C rs765765094
NM_000059.4(BRCA2):c.8850G>A (p.Lys2950=) rs28897754
NM_000059.4(BRCA2):c.8877A>G (p.Glu2959=) rs751396548
NM_000059.4(BRCA2):c.8898C>T (p.Val2966=) rs1566252734
NM_000059.4(BRCA2):c.8976A>G (p.Pro2992=) rs2072907793
NM_000059.4(BRCA2):c.9063A>G (p.Glu3021=) rs786201198
NM_000059.4(BRCA2):c.9093A>G (p.Lys3031=) rs1555288495
NM_000059.4(BRCA2):c.9099T>C (p.Thr3033=) rs876658635
NM_000059.4(BRCA2):c.9102G>A (p.Gln3034=) rs1336395181
NM_000059.4(BRCA2):c.9104A>G (p.Tyr3035Cys) rs80359165
NM_000059.4(BRCA2):c.9117+9C>T rs81002869
NM_000059.4(BRCA2):c.9129A>G (p.Glu3043=) rs28897757
NM_000059.4(BRCA2):c.9162C>G (p.Pro3054=) rs778426874
NM_000059.4(BRCA2):c.9162C>T (p.Pro3054=) rs778426874
NM_000059.4(BRCA2):c.9168C>T (p.His3056=) rs876661266
NM_000059.4(BRCA2):c.9175A>G (p.Lys3059Glu) rs80359174
NM_000059.4(BRCA2):c.9257-10dup rs276174919
NM_000059.4(BRCA2):c.9257G>C (p.Gly3086Ala) rs574271678
NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr) rs587782313
NM_000059.4(BRCA2):c.939T>C (p.Ser313=) rs1593891536
NM_000059.4(BRCA2):c.9414A>G (p.Leu3138=) rs80359807
NM_000059.4(BRCA2):c.9447T>C (p.Ser3149=) rs1593199946
NM_000059.4(BRCA2):c.9468A>G (p.Gln3156=) rs753503094
NM_000059.4(BRCA2):c.9502-12T>C rs81002803
NM_000059.4(BRCA2):c.9540T>G (p.Leu3180=) rs1131692141
NM_000059.4(BRCA2):c.9567C>G (p.Pro3189=) rs786202006
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_000059.4(BRCA2):c.9605C>T (p.Pro3202Leu) rs397507432
NM_000059.4(BRCA2):c.9606G>A (p.Pro3202=) rs755890067
NM_000059.4(BRCA2):c.9606G>C (p.Pro3202=) rs755890067
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu) rs276174926
NM_000059.4(BRCA2):c.9649-6dup rs276174929
NM_000059.4(BRCA2):c.9738C>A (p.Ala3246=) rs80359811
NM_000059.4(BRCA2):c.9750A>C (p.Ser3250=) rs377730276
NM_000059.4(BRCA2):c.9765G>T (p.Gly3255=) rs1555289951
NM_000059.4(BRCA2):c.9771A>G (p.Lys3257=) rs1363146360
NM_000059.4(BRCA2):c.978C>G (p.Ser326Arg) rs28897706
NM_000059.4(BRCA2):c.990A>G (p.Lys330=) rs1555281676
NM_000059.4(BRCA2):c.9912T>C (p.Cys3304=) rs2073052705
NM_000064.4(C3):c.2246-18_2246-17delinsTT
NM_000069.3(CACNA1S):c.2167G>A (p.Asp723Asn)
NM_000069.3(CACNA1S):c.2491-17C>A
NM_000071.3(CBS):c.1358+15C>A rs186497436
NM_000071.3(CBS):c.1468-14C>T
NM_000071.3(CBS):c.423G>C (p.Thr141=) rs773579814
NM_000071.3(CBS):c.825C>T (p.Cys275=) rs764638041
NM_000075.4(CDK4):c.306A>C (p.Thr102=) rs201202764
NM_000075.4(CDK4):c.420T>C (p.Asp140=) rs863224321
NM_000075.4(CDK4):c.573T>C (p.Tyr191=) rs878853623
NM_000075.4(CDK4):c.639C>A (p.Leu213=) rs2140383965
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del) rs587780668
NM_000077.5(CDKN2A):c.177G>A (p.Val59=) rs527503775
NM_000077.5(CDKN2A):c.213C>T (p.Asn71=) rs2131095688
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys) rs34170727
NM_000077.5(CDKN2A):c.441C>A (p.Ala147=) rs1057524065
NM_000077.5(CDKN2A):c.84G>A (p.Val28=) rs1461154048
NM_000081.4(LYST):c.8612+13A>G
NM_000081.4(LYST):c.8801+14G>T
NM_000083.3(CLCN1):c.853+19C>A rs748877906
NM_000089.4(COL1A2):c.2082C>A (p.Gly694=) rs193229878
NM_000089.4(COL1A2):c.3435G>A (p.Gln1145=) rs193922169
NM_000089.4(COL1A2):c.3942A>G (p.Val1314=)
NM_000089.4(COL1A2):c.70+9C>T
NM_000089.4(COL1A2):c.81+12T>C
NM_000090.4(COL3A1):c.1924-14A>T
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.4(COL3A1):c.2247A>G (p.Pro749=) rs1553508706
NM_000090.4(COL3A1):c.2608-17A>G
NM_000090.4(COL3A1):c.3222T>G (p.Gly1074=) rs1060503873
NM_000090.4(COL3A1):c.4011+10del
NM_000090.4(COL3A1):c.4182G>A (p.Gly1394=)
NM_000090.4(COL3A1):c.4194T>C (p.Gly1398=) rs1054676420
NM_000090.4(COL3A1):c.660T>C (p.Ala220=)
NM_000091.5(COL4A3):c.1315+18G>A
NM_000091.5(COL4A3):c.1316-19T>C
NM_000091.5(COL4A3):c.2657-15A>C
NM_000091.5(COL4A3):c.3418+15C>T
NM_000091.5(COL4A3):c.3752-14T>C
NM_000091.5(COL4A3):c.43_54del (p.Pro15_Leu18del) rs570469692
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=) rs756231749
NM_000091.5(COL4A3):c.687+11T>C
NM_000091.5(COL4A3):c.688-11T>C
NM_000092.5(COL4A4):c.1308G>C (p.Gly436=)
NM_000092.5(COL4A4):c.372+13A>T
NM_000092.5(COL4A4):c.4081+18A>G
NM_000092.5(COL4A4):c.4809+14C>T
NM_000092.5(COL4A4):c.870+19T>C
NM_000093.5(COL5A1):c.1719+14A>G
NM_000093.5(COL5A1):c.2544C>T (p.Arg848=) rs201556585
NM_000093.5(COL5A1):c.4503C>T (p.Gly1501=)
NM_000093.5(COL5A1):c.4893G>A (p.Thr1631=)
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.5(COL5A1):c.5371-14T>C
NM_000094.4(COL7A1):c.138C>A (p.Ser46=)
NM_000094.4(COL7A1):c.190C>T (p.Leu64=)
NM_000094.4(COL7A1):c.3411C>G (p.Ala1137=)
NM_000094.4(COL7A1):c.3672G>A (p.Gln1224=)
NM_000094.4(COL7A1):c.4342-10T>A
NM_000094.4(COL7A1):c.4437+16G>A
NM_000094.4(COL7A1):c.5370T>A (p.Ala1790=)
NM_000094.4(COL7A1):c.5772+14C>T
NM_000094.4(COL7A1):c.6339G>A (p.Lys2113=)
NM_000094.4(COL7A1):c.6394-16G>A
NM_000094.4(COL7A1):c.7269G>A (p.Glu2423=)
NM_000094.4(COL7A1):c.7335G>A (p.Pro2445=)
NM_000094.4(COL7A1):c.7440+20C>T
NM_000094.4(COL7A1):c.7875+16G>A
NM_000094.4(COL7A1):c.8527+12T>G
NM_000098.3(CPT2):c.1512G>T (p.Pro504=) rs150953507
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000101.4(CYBA):c.524CGG[3] (p.Ala176dup) rs760275837
NM_000104.4(CYP1B1):c.-286C>T rs78928924
NM_000110.4(DPYD):c.2976T>C (p.Cys992=)
NM_000110.4(DPYD):c.3067C>A (p.Pro1023Thr) rs114096998
NM_000123.4(ERCC5):c.592C>A (p.Pro198Thr) rs141369732
NM_000124.4(ERCC6):c.1685+12T>C
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000132.4(F8):c.5219+13_5219+20del
NM_000132.4(F8):c.5220-16del
NM_000133.4(F9):c.520+19T>C
NM_000135.4(FANCA):c.3163C>A (p.Arg1055=) rs753063086
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000138.5(FBN1):c.1278G>A (p.Pro426=) rs113245313
NM_000138.5(FBN1):c.1317G>A (p.Arg439=) rs2043798918
NM_000138.5(FBN1):c.1530G>T (p.Ser510=) rs147511977
NM_000138.5(FBN1):c.156G>A (p.Ala52=)
NM_000138.5(FBN1):c.159T>A (p.Leu53=)
NM_000138.5(FBN1):c.1860T>C (p.Pro620=) rs1555399834
NM_000138.5(FBN1):c.2001A>G (p.Arg667=) rs1566913738
NM_000138.5(FBN1):c.2235C>G (p.Thr745=)
NM_000138.5(FBN1):c.2646G>A (p.Ala882=) rs376040442
NM_000138.5(FBN1):c.3027G>A (p.Pro1009=) rs774381427
NM_000138.5(FBN1):c.336C>T (p.Gly112=) rs1555405526
NM_000138.5(FBN1):c.3573T>C (p.Asp1191=) rs150912619
NM_000138.5(FBN1):c.3876A>G (p.Leu1292=)
NM_000138.5(FBN1):c.4210+11G>A rs148057138
NM_000138.5(FBN1):c.42C>T (p.Thr14=) rs1405903278
NM_000138.5(FBN1):c.4308G>A (p.Val1436=)
NM_000138.5(FBN1):c.4404C>T (p.Phe1468=) rs780479561
NM_000138.5(FBN1):c.450T>C (p.Cys150=) rs1038466745
NM_000138.5(FBN1):c.4569A>T (p.Arg1523=) rs2141272876
NM_000138.5(FBN1):c.4704A>G (p.Lys1568=) rs193922208
NM_000138.5(FBN1):c.4817-14T>G
NM_000138.5(FBN1):c.5925T>C (p.Asn1975=) rs1555395667
NM_000138.5(FBN1):c.603G>A (p.Gly201=)
NM_000138.5(FBN1):c.6120T>C (p.Cys2040=) rs193922221
NM_000138.5(FBN1):c.6129G>T (p.Gly2043=)
NM_000138.5(FBN1):c.621G>A (p.Thr207=) rs765173237
NM_000138.5(FBN1):c.6832C>G (p.Pro2278Ala) rs363835
NM_000138.5(FBN1):c.6997+19G>A rs767445722
NM_000138.5(FBN1):c.7205-10T>G
NM_000138.5(FBN1):c.7236T>C (p.Val2412=) rs1306021418
NM_000138.5(FBN1):c.7407A>G (p.Ser2469=) rs193922232
NM_000138.5(FBN1):c.8051+14_8051+18del
NM_000138.5(FBN1):c.8121C>T (p.Asp2707=) rs1566889147
NM_000138.5(FBN1):c.8148C>T (p.Tyr2716=) rs112642323
NM_000138.5(FBN1):c.863-10del rs748672558
NM_000142.5(FGFR3):c.931-712G>C
NM_000146.4(FTL):c.231T>G (p.Ala77=)
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000155.4(GALT):c.414G>T (p.Thr138=) rs116479817
NM_000155.4(GALT):c.885C>G (p.Pro295=) rs1554709446
NM_000157.4(GBA1):c.-15A>G
NM_000158.4(GBE1):c.314-13_314-11del
NM_000159.4(GCDH):c.15C>A (p.Gly5=) rs2145938210
NM_000162.5(GCK):c.108G>A (p.Arg36=) rs754169218
NM_000162.5(GCK):c.1098C>T (p.Ile366=) rs2128819347
NM_000162.5(GCK):c.117G>A (p.Lys39=) rs193922270
NM_000162.5(GCK):c.30C>T (p.Ala10=)
NM_000162.5(GCK):c.450C>T (p.Phe150=) rs193922299
NM_000162.5(GCK):c.723G>A (p.Val241=) rs193922324
NM_000163.5(GHR):c.726G>A (p.Glu242=)
NM_000168.6(GLI3):c.1659C>T (p.Cys553=)
NM_000169.3(GLA):c.591C>T (p.Ser197=) rs898606246
NM_000170.3(GLDC):c.2310C>A (p.Ile770=) rs765661419
NM_000171.4(GLRA1):c.477-13C>T
NM_000179.3(MSH6):c.1035T>C (p.Asn345=) rs765166082
NM_000179.3(MSH6):c.1143G>A (p.Glu381=) rs1553412538
NM_000179.3(MSH6):c.115G>C (p.Gly39Arg) rs751838296
NM_000179.3(MSH6):c.117G>A (p.Gly39=) rs756673077
NM_000179.3(MSH6):c.1191T>C (p.Tyr397=) rs786201269
NM_000179.3(MSH6):c.1287G>A (p.Val429=) rs576548582
NM_000179.3(MSH6):c.1290G>A (p.Gly430=) rs1558661242
NM_000179.3(MSH6):c.1347G>A (p.Leu449=) rs786201760
NM_000179.3(MSH6):c.1413T>C (p.Asp471=) rs772123097
NM_000179.3(MSH6):c.1524G>C (p.Val508=) rs878853705
NM_000179.3(MSH6):c.1554C>T (p.Thr518=) rs786201471
NM_000179.3(MSH6):c.1593C>A (p.Pro531=) rs1259890299
NM_000179.3(MSH6):c.1698A>G (p.Gly566=) rs764818222
NM_000179.3(MSH6):c.1713T>G (p.Gly571=) rs781019496
NM_000179.3(MSH6):c.1902G>A (p.Leu634=) rs1572724876
NM_000179.3(MSH6):c.1914T>C (p.Leu638=) rs766310490
NM_000179.3(MSH6):c.1938G>A (p.Lys646=) rs758631207
NM_000179.3(MSH6):c.2004C>T (p.Ser668=) rs766113887
NM_000179.3(MSH6):c.2019A>G (p.Pro673=) rs863224327
NM_000179.3(MSH6):c.2112T>C (p.Ala704=) rs1553413481
NM_000179.3(MSH6):c.2181C>G (p.Thr727=) rs876659171
NM_000179.3(MSH6):c.2187C>A (p.Ala729=) rs375610656
NM_000179.3(MSH6):c.2193A>G (p.Gln731=) rs1055190211
NM_000179.3(MSH6):c.2241G>T (p.Leu747=) rs377722465
NM_000179.3(MSH6):c.2343A>C (p.Pro781=) rs965368508
NM_000179.3(MSH6):c.2403G>T (p.Val801=) rs1572727035
NM_000179.3(MSH6):c.2415C>T (p.Ile805=) rs1219649543
NM_000179.3(MSH6):c.255C>A (p.Pro85=) rs587779242
NM_000179.3(MSH6):c.255C>G (p.Pro85=) rs587779242
NM_000179.3(MSH6):c.2561_2562delinsTT (p.Lys854Ile) rs587780673
NM_000179.3(MSH6):c.2646T>C (p.Phe882=) rs1190330045
NM_000179.3(MSH6):c.267C>T (p.Asp89=) rs762818044
NM_000179.3(MSH6):c.2682G>A (p.Gln894=) rs756239543
NM_000179.3(MSH6):c.2725T>C (p.Leu909=) rs876659785
NM_000179.3(MSH6):c.2745C>G (p.Ala915=) rs876658904
NM_000179.3(MSH6):c.2787C>G (p.Pro929=) rs768005323
NM_000179.3(MSH6):c.2796C>T (p.Gly932=) rs774105284
NM_000179.3(MSH6):c.2919T>C (p.Gly973=) rs1057522150
NM_000179.3(MSH6):c.2958C>T (p.Thr986=) rs757866392
NM_000179.3(MSH6):c.2986T>C (p.Leu996=) rs876658605
NM_000179.3(MSH6):c.3012A>G (p.Lys1004=) rs864622378
NM_000179.3(MSH6):c.3054C>A (p.Leu1018=) rs772191770
NM_000179.3(MSH6):c.3066A>G (p.Glu1022=) rs766709747
NM_000179.3(MSH6):c.3162C>T (p.Ile1054=) rs149605979
NM_000179.3(MSH6):c.3246G>C (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.3(MSH6):c.339C>T (p.His113=) rs886056141
NM_000179.3(MSH6):c.3456A>G (p.Val1152=) rs750998416
NM_000179.3(MSH6):c.3477C>T (p.Tyr1159=) rs398123231
NM_000179.3(MSH6):c.3594C>A (p.Ala1198=)
NM_000179.3(MSH6):c.3609T>C (p.His1203=) rs1669965072
NM_000179.3(MSH6):c.3615A>G (p.Thr1205=) rs876660407
NM_000179.3(MSH6):c.366G>A (p.Glu122=) rs774303198
NM_000179.3(MSH6):c.3705T>C (p.Leu1235=) rs545552712
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu) rs202066386
NM_000179.3(MSH6):c.3897C>G (p.Gly1299=) rs1558393788
NM_000179.3(MSH6):c.3912G>A (p.Arg1304=) rs786202333
NM_000179.3(MSH6):c.3930G>A (p.Glu1310=) rs267608129
NM_000179.3(MSH6):c.3990A>G (p.Leu1330=) rs1558394684
NM_000179.3(MSH6):c.4001+49_4001+50insCTAACTGACCTTAAGTTTCAA rs863225419
NM_000179.3(MSH6):c.4001+4_4001+8dup rs587782853
NM_000179.3(MSH6):c.4062_4065dup (p.Leu1356fs) rs1553334056
NM_000179.3(MSH6):c.4074G>A (p.Lys1358=) rs759392159
NM_000179.3(MSH6):c.408C>T (p.Asp136=) rs878853746
NM_000179.3(MSH6):c.458-8C>G rs372091232
NM_000179.3(MSH6):c.474A>G (p.Glu158=) rs878853747
NM_000179.3(MSH6):c.489T>A (p.Gly163=) rs745399921
NM_000179.3(MSH6):c.504A>G (p.Ala168=) rs1057520319
NM_000179.3(MSH6):c.513A>G (p.Glu171=) rs786201116
NM_000179.3(MSH6):c.597C>G (p.Pro199=) rs1553411498
NM_000179.3(MSH6):c.618A>G (p.Glu206=) rs758635514
NM_000179.3(MSH6):c.696G>A (p.Gln232=) rs777770119
NM_000179.3(MSH6):c.723T>C (p.Ser241=) rs1553412150
NM_000179.3(MSH6):c.768T>C (p.Ser256=) rs1558659235
NM_000179.3(MSH6):c.78G>A (p.Arg26=) rs1395190094
NM_000179.3(MSH6):c.801A>G (p.Pro267=)
NM_000179.3(MSH6):c.828T>C (p.Asp276=) rs1669259831
NM_000179.3(MSH6):c.840T>C (p.Ser280=) rs767974147
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu) rs267608079
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr) rs587781510
NM_000179.3(MSH6):c.927T>C (p.Ser309=) rs771288794
NM_000179.3(MSH6):c.945T>G (p.Ser315=) rs761581941
NM_000179.3(MSH6):c.975A>G (p.Gln325=) rs193922345
NM_000186.4(CFH):c.58+19C>G
NM_000188.3(HK1):c.40C>T (p.Leu14=) rs1455013583
NM_000190.4(HMBS):c.75C>T (p.Thr25=) rs1252084629
NM_000194.3(HPRT1):c.319-18T>G
NM_000195.5(HPS1):c.678_680delinsTGT (p.Ser227Val) rs1554892764
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.222C>T (p.Arg74=) rs768056322
NM_000203.5(IDUA):c.42G>A (p.Leu14=) rs1021970063
NM_000207.3(INS):c.67G>A (p.Ala23Thr) rs13306444
NM_000208.4(INSR):c.3312G>A (p.Glu1104=)
NM_000209.4(PDX1):c.318G>T (p.Pro106=) rs193922354
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala) rs192902098
NM_000215.4(JAK3):c.1890G>A (p.Gln630=) rs193922363
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.3(KCNQ1):c.639C>T (p.Leu213=) rs913261020
NM_000218.3(KCNQ1):c.648C>A (p.Gly216=) rs146350010
NM_000219.6(KCNE1):c.30G>T (p.Thr10=) rs187686559
NM_000232.5(SGCB):c.12GGC[3] (p.Ala9del) rs768838951
NM_000235.4(LIPA):c.429-10T>G rs1554865817
NM_000238.4(KCNH2):c.2892C>G (p.Pro964=) rs769972412
NM_000238.4(KCNH2):c.3331-9G>A rs754582515
NM_000238.4(KCNH2):c.3384C>T (p.Pro1128=) rs2116917718
NM_000238.4(KCNH2):c.774C>T (p.Pro258=) rs1554427740
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.3(MEFV):c.2253C>G (p.Pro751=) rs1489831475
NM_000243.3(MEFV):c.2271C>T (p.Ser757=) rs772754956
NM_000243.3(MEFV):c.330G>A (p.Leu110=) rs104895177
NM_000243.3(MEFV):c.564C>G (p.Pro188=) rs775755423
NM_000243.3(MEFV):c.585G>A (p.Glu195=) rs200766991
NM_000243.3(MEFV):c.699G>A (p.Leu233=) rs2141676964
NM_000249.4(MLH1):c.114C>T (p.Asn38=) rs267607706
NM_000249.4(MLH1):c.117-9A>G rs1060504004
NM_000249.4(MLH1):c.1227G>A (p.Gln409=) rs775776362
NM_000249.4(MLH1):c.1331A>G (p.Asn444Ser) rs763189331
NM_000249.4(MLH1):c.1476A>C (p.Ala492=) rs864622619
NM_000249.4(MLH1):c.1618T>C (p.Leu540=) rs1448439825
NM_000249.4(MLH1):c.1953G>A (p.Glu651=) rs878853784
NM_000249.4(MLH1):c.1978C>T (p.Leu660=) rs752427924
NM_000249.4(MLH1):c.2091C>T (p.Leu697=) rs536488280
NM_000249.4(MLH1):c.2256C>A (p.Val752=) rs2085654744
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys) rs773647920
NM_000249.4(MLH1):c.342T>C (p.Thr114=) rs1057520553
NM_000249.4(MLH1):c.621A>G (p.Leu207=) rs770554901
NM_000249.4(MLH1):c.729T>C (p.Asn243=) rs876660573
NM_000249.4(MLH1):c.756A>C (p.Ser252=) rs864622458
NM_000249.4(MLH1):c.876G>A (p.Leu292=) rs773452312
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys) rs63749994
NM_000249.4(MLH1):c.927C>T (p.Pro309=) rs63749896
NM_000251.3(MSH2):c.1011A>G (p.Gln337=) rs1553353192
NM_000251.3(MSH2):c.1083T>C (p.Asn361=) rs864622544
NM_000251.3(MSH2):c.1206A>G (p.Gln402=) rs1553356673
NM_000251.3(MSH2):c.1242A>T (p.Leu414=) rs757250110
NM_000251.3(MSH2):c.1314T>C (p.Thr438=) rs761558457
NM_000251.3(MSH2):c.132G>T (p.Thr44=) rs766856128
NM_000251.3(MSH2):c.135G>A (p.Ala45=) rs890172773
NM_000251.3(MSH2):c.1401A>G (p.Glu467=) rs1558508085
NM_000251.3(MSH2):c.1530G>A (p.Gln510=) rs587782355
NM_000251.3(MSH2):c.1614C>T (p.Asn538=) rs1666903426
NM_000251.3(MSH2):c.1647T>C (p.Val549=) rs763525239
NM_000251.3(MSH2):c.1662-18T>C rs376235435
NM_000251.3(MSH2):c.1713A>G (p.Glu571=) rs1667077872
NM_000251.3(MSH2):c.1803G>A (p.Gln601=) rs1553368556
NM_000251.3(MSH2):c.192C>A (p.Ile64=) rs1395172053
NM_000251.3(MSH2):c.1938T>C (p.Asp646=) rs775484022
NM_000251.3(MSH2):c.1998C>T (p.Ile666=) rs1450475535
NM_000251.3(MSH2):c.1A>C (p.Met1Leu) rs267607911
NM_000251.3(MSH2):c.2028A>C (p.Ser676=) rs1057522032
NM_000251.3(MSH2):c.21G>A (p.Glu7=) rs1060504423
NM_000251.3(MSH2):c.2289A>G (p.Ala763=) rs1553369710
NM_000251.3(MSH2):c.2545C>T (p.Leu849=) rs587778527
NM_000251.3(MSH2):c.2580G>T (p.Ser860=) rs752428475
NM_000251.3(MSH2):c.2625G>A (p.Leu875=)
NM_000251.3(MSH2):c.2775A>G (p.Glu925=) rs1057521004
NM_000251.3(MSH2):c.2801C>T (p.Thr934Met) rs587779969
NM_000251.3(MSH2):c.303A>G (p.Glu101=) rs1672558110
NM_000251.3(MSH2):c.573C>G (p.Leu191=) rs1800151
NM_000251.3(MSH2):c.588A>C (p.Pro196=) rs1553350915
NM_000251.3(MSH2):c.606C>G (p.Pro202=) rs63750600
NM_000251.3(MSH2):c.606C>T (p.Pro202=) rs63750600
NM_000251.3(MSH2):c.633G>A (p.Gly211=) rs1558459840
NM_000251.3(MSH2):c.6G>C (p.Ala2=) rs368270856
NM_000251.3(MSH2):c.6G>T (p.Ala2=) rs368270856
NM_000251.3(MSH2):c.732G>A (p.Leu244=)
NM_000251.3(MSH2):c.849T>C (p.Asp283=) rs876659344
NM_000251.3(MSH2):c.976C>T (p.Leu326=) rs1237931528
NM_000256.3(MYBPC3):c.1335G>C (p.Thr445=) rs727503205
NM_000256.3(MYBPC3):c.1371G>A (p.Thr457=) rs538072263
NM_000257.4(MYH7):c.132G>A (p.Gln44=)
NM_000257.4(MYH7):c.258A>G (p.Lys86=)
NM_000257.4(MYH7):c.2715T>C (p.Cys905=) rs1231740034
NM_000257.4(MYH7):c.2718T>C (p.Asp906=) rs1595081860
NM_000257.4(MYH7):c.2931C>T (p.Asn977=) rs757313728
NM_000257.4(MYH7):c.3621C>T (p.Ile1207=) rs529700838
NM_000257.4(MYH7):c.3789G>A (p.Ala1263=) rs137918672
NM_000257.4(MYH7):c.396G>T (p.Pro132=) rs138932714
NM_000257.4(MYH7):c.5067T>G (p.Arg1689=) rs1595072723
NM_000257.4(MYH7):c.5079G>A (p.Glu1693=) rs570732103
NM_000260.4(MYO7A):c.4587C>G (p.Leu1529=)
NM_000263.4(NAGLU):c.384-32_384-20dup
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3]) rs1024697806
NM_000264.5(PTCH1):c.51C>T (p.Gly17=)
NM_000264.5(PTCH1):c.595T>C (p.Leu199=) rs2118474956
NM_000276.4(OCRL):c.120-17G>A
NM_000282.4(PCCA):c.720T>C (p.Asp240=)
NM_000284.4(PDHA1):c.456G>A (p.Ser152=) rs1358837850
NM_000284.4(PDHA1):c.510+18T>C
NM_000284.4(PDHA1):c.510+19dup
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000301.5(PLG):c.1024G>A (p.Val342Met)
NM_000301.5(PLG):c.2025C>A (p.Ala675=)
NM_000302.4(PLOD1):c.1560C>T (p.Leu520=)
NM_000302.4(PLOD1):c.210G>A (p.Thr70=)
NM_000302.4(PLOD1):c.77-20A>C
NM_000303.3(PMM2):c.639+15G>C
NM_000305.3(PON2):c.359T>G (p.Ile120Arg)
NM_000305.3(PON2):c.610GTT[1] (p.Val205del) rs574854691
NM_000305.3(PON2):c.660T>C (p.Asp220=)
NM_000305.3(PON2):c.75-20dup rs754815103
NM_000305.3(PON2):c.873C>T (p.Phe291=)
NM_000314.8(PTEN):c.522T>C (p.Tyr174=) rs786201867
NM_000314.8(PTEN):c.6A>C (p.Thr2=) rs1168115184
NM_000314.8(PTEN):c.951A>C (p.Val317=) rs876659993
NM_000314.8(PTEN):c.993C>T (p.Asp331=) rs2132283468
NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe) rs730880211
NM_000335.5(SCN5A):c.1752C>G (p.Gly584=) rs1166588443
NM_000335.5(SCN5A):c.1776C>T (p.Asn592=) rs199473130
NM_000335.5(SCN5A):c.1993G>T (p.Ala665Ser) rs756474485
NM_000335.5(SCN5A):c.2190C>T (p.Asn730=) rs752594272
NM_000335.5(SCN5A):c.2667C>G (p.Leu889=) rs587781162
NM_000335.5(SCN5A):c.2787+17dup rs2061652536
NM_000335.5(SCN5A):c.3723C>G (p.Ala1241=)
NM_000335.5(SCN5A):c.373G>C (p.Val125Leu) rs199473059
NM_000335.5(SCN5A):c.5256C>T (p.Thr1752=) rs1553692850
NM_000335.5(SCN5A):c.5469A>G (p.Pro1823=)
NM_000336.3(SCNN1B):c.1270+17G>A
NM_000336.3(SCNN1B):c.1300G>A (p.Val434Met)
NM_000342.4(SLC4A1):c.15+13T>C
NM_000344.4(SMN1):c.841A>C (p.Arg281=) rs1482083567
NM_000352.6(ABCC8):c.2041-12C>T rs201419039
NM_000352.6(ABCC8):c.2695-20G>A
NM_000361.3(THBD):c.168G>A (p.Arg56=)
NM_000368.5(TSC1):c.444A>G (p.Lys148=) rs2132189552
NM_000368.5(TSC1):c.558A>G (p.Ala186=) rs2132158268
NM_000368.5(TSC1):c.642G>A (p.Glu214=)
NM_000368.5(TSC1):c.738-16T>C rs2132008163
NM_000369.5(TSHR):c.692+183T>C
NM_000371.4(TTR):c.303A>C (p.Ala101=) rs1555631418
NM_000377.3(WAS):c.273+16C>A
NM_000383.4(AIRE):c.1404G>A (p.Thr468=) rs7281600
NM_000384.3(APOB):c.10323G>A (p.Lys3441=) rs1663144038
NM_000384.3(APOB):c.10326A>G (p.Gln3442=)
NM_000384.3(APOB):c.10413T>C (p.Ser3471=)
NM_000384.3(APOB):c.10520G>C (p.Arg3507Pro) rs201156840
NM_000384.3(APOB):c.10581G>A (p.Arg3527=) rs1663135017
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)
NM_000387.6(SLC25A20):c.779_781del (p.Glu260del) rs754871147
NM_000388.4(CASR):c.1686C>T (p.Cys562=) rs193922428
NM_000388.4(CASR):c.3063G>A (p.Thr1021=) rs193922440
NM_000388.4(CASR):c.3153C>T (p.Ser1051=) rs1576879292
NM_000388.4(CASR):c.876C>T (p.Ile292=) rs772232871
NM_000391.4(TPP1):c.1524C>T (p.Tyr508=) rs2134590875
NM_000393.5(COL5A2):c.2862A>G (p.Gly954=)
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000393.5(COL5A2):c.3201+15A>C
NM_000393.5(COL5A2):c.3948C>T (p.Asn1316=)
NM_000399.5(EGR2):c.777C>T (p.Pro259=) rs750955966
NM_000419.5(ITGA2B):c.2943+18G>A
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000432.4(MYL2):c.353+33C>G rs193922453
NM_000432.4(MYL2):c.429C>G (p.Pro143=) rs374328118
NM_000433.4(NCF2):c.1183C>T (p.Arg395Trp) rs13306575
NM_000435.3(NOTCH3):c.5154C>T (p.Ala1718=)
NM_000444.6(PHEX):c.850-15A>C
NM_000451.4(SHOX):c.279G>T (p.Gly93=) rs193922465
NM_000455.5(STK11):c.1008T>C (p.Thr336=) rs878853981
NM_000455.5(STK11):c.117C>T (p.Arg39=) rs786203942
NM_000455.5(STK11):c.1191G>A (p.Ala397=) rs774759899
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000455.5(STK11):c.1284G>T (p.Ser428=) rs369097329
NM_000455.5(STK11):c.318G>T (p.Arg106=) rs777784520
NM_000455.5(STK11):c.435G>A (p.Glu145=) rs1555737810
NM_000455.5(STK11):c.465-4G>A rs587780009
NM_000455.5(STK11):c.490C>T (p.Leu164=)
NM_000455.5(STK11):c.558C>T (p.Thr186=) rs749563734
NM_000455.5(STK11):c.609G>C (p.Pro203=) rs786201228
NM_000455.5(STK11):c.735-10C>T rs553975112
NM_000455.5(STK11):c.756G>A (p.Leu252=) rs786201544
NM_000455.5(STK11):c.90C>T (p.Asp30=) rs771765869
NM_000455.5(STK11):c.920+7G>T rs2075607
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
NM_000458.4(HNF1B):c.336G>T (p.Arg112=) rs2034108474
NM_000465.4(BARD1):c.117C>T (p.Ala39=) rs786202271
NM_000465.4(BARD1):c.1311T>C (p.Ile437=) rs876659789
NM_000465.4(BARD1):c.1438T>C (p.Leu480=) rs786203220
NM_000465.4(BARD1):c.1461G>T (p.Val487=) rs1694272372
NM_000465.4(BARD1):c.1467C>T (p.Thr489=) rs1694271621
NM_000465.4(BARD1):c.1479A>G (p.Gln493=) rs375029767
NM_000465.4(BARD1):c.1518_1519delinsCT (p.Val507Leu) rs386654966
NM_000465.4(BARD1):c.1644G>A (p.Lys548=) rs1064796411
NM_000465.4(BARD1):c.165C>T (p.Asn55=) rs1553625775
NM_000465.4(BARD1):c.1692G>A (p.Gln564=) rs1168537193
NM_000465.4(BARD1):c.1986C>T (p.Leu662=) rs1553612477
NM_000465.4(BARD1):c.222T>C (p.Cys74=) rs1168791343
NM_000465.4(BARD1):c.615G>A (p.Lys205=) rs766609646
NM_000465.4(BARD1):c.897T>C (p.Thr299=) rs559051241
NM_000465.4(BARD1):c.924T>G (p.Leu308=) rs758559877
NM_000465.4(BARD1):c.946T>C (p.Leu316=) rs587782325
NM_000478.6(ALPL):c.182-18C>T
NM_000481.4(AMT):c.381A>G (p.Leu127=) rs2049077607
NM_000484.4(APP):c.1224+16C>A rs199585064
NM_000484.4(APP):c.356-19T>G
NM_000484.4(APP):c.378C>T (p.Ala126=)
NM_000487.6(ARSA):c.495G>T (p.Pro165=) rs145299072
NM_000492.4(CFTR):c.1059A>G (p.Gln353=) rs1800087
NM_000492.4(CFTR):c.1176A>G (p.Val392=) rs542860881
NM_000492.4(CFTR):c.1254T>C (p.Asn418=) rs62469440
NM_000492.4(CFTR):c.1278C>T (p.Asp426=) rs2896225
NM_000492.4(CFTR):c.1311T>C (p.Gly437=) rs1562895049
NM_000492.4(CFTR):c.1365G>T (p.Ala455=) rs79074685
NM_000492.4(CFTR):c.1371T>G (p.Ala457=)
NM_000492.4(CFTR):c.1392+12G>C
NM_000492.4(CFTR):c.1437G>A (p.Glu479=) rs754152822
NM_000492.4(CFTR):c.1446T>A (p.Ile482=) rs914422460
NM_000492.4(CFTR):c.164+14C>G
NM_000492.4(CFTR):c.1680-906_1680-905del
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.1767-81_1767-80del rs1584812043
NM_000492.4(CFTR):c.1950C>T (p.Phe650=) rs200204024
NM_000492.4(CFTR):c.2178G>A (p.Glu726=)
NM_000492.4(CFTR):c.24G>A (p.Lys8=) rs1800071
NM_000492.4(CFTR):c.2565C>G (p.Val855=) rs1233428222
NM_000492.4(CFTR):c.2709T>C (p.Tyr903=)
NM_000492.4(CFTR):c.2899T>C (p.Leu967=) rs1554391080
NM_000492.4(CFTR):c.2988+1186_2988+1194del rs534559351
NM_000492.4(CFTR):c.3039C>G (p.Pro1013=) rs1562914129
NM_000492.4(CFTR):c.3108C>G (p.Thr1036=) rs773627677
NM_000492.4(CFTR):c.3333C>T (p.Phe1111=) rs144135742
NM_000492.4(CFTR):c.3368-121_3368-118dup
NM_000492.4(CFTR):c.3480G>A (p.Val1160=) rs1298788637
NM_000492.4(CFTR):c.3807C>T (p.Ile1269=) rs1800129
NM_000492.4(CFTR):c.4077T>G (p.Ser1359=) rs1449323479
NM_000492.4(CFTR):c.4116C>T (p.Pro1372=) rs1793345960
NM_000492.4(CFTR):c.4137-12T>C
NM_000492.4(CFTR):c.4222C>T (p.Leu1408=) rs1793360215
NM_000492.4(CFTR):c.4236A>G (p.Gln1412=) rs541737583
NM_000492.4(CFTR):c.426T>C (p.Ile142=) rs1554379864
NM_000492.4(CFTR):c.4293G>A (p.Leu1431=) rs1562929564
NM_000492.4(CFTR):c.744-33GATT[8] rs1805171
NM_000492.4(CFTR):c.[1727G>C;2002C>T]
NM_000494.4(COL17A1):c.2947+13A>C
NM_000497.4(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000500.9(CYP21A2):c.1287C>T (p.Cys429=) rs193922543
NM_000500.9(CYP21A2):c.1299G>A (p.Pro433=)
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg) rs17855988
NM_000512.5(GALNS):c.143T>C (p.Val48Ala) rs191519947
NM_000515.5(GH1):c.117T>C (p.Ala39=)
NM_000515.5(GH1):c.7A>C (p.Thr3Pro) rs2001345
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.20A>C (p.Glu7Ala) rs334
NM_000518.5(HBB):c.-10_-7del rs34196559
NM_000518.5(HBB):c.117C>T (p.Thr39=) rs1847565822
NM_000518.5(HBB):c.129T>C (p.Phe43=) rs1554917971
NM_000518.5(HBB):c.12G>A (p.Leu4=)
NM_000518.5(HBB):c.141G>A (p.Gly47=) rs1554917961
NM_000518.5(HBB):c.21G>A (p.Glu7=) rs1589893600
NM_000518.5(HBB):c.246C>G (p.Leu82=) rs145669504
NM_000518.5(HBB):c.270T>C (p.Ser90=) rs1554917814
NM_000518.5(HBB):c.276G>T (p.Leu92=)
NM_000518.5(HBB):c.288G>A (p.Lys96=) rs36038739
NM_000518.5(HBB):c.316-112A>G rs1847535052
NM_000518.5(HBB):c.351T>C (p.His117=) rs35209776
NM_000518.5(HBB):c.372C>A (p.Thr124=) rs780307221
NM_000518.5(HBB):c.372C>G (p.Thr124=)
NM_000518.5(HBB):c.372C>T (p.Thr124=) rs780307221
NM_000518.5(HBB):c.397A>C (p.Lys133Gln) rs33953406
NM_000518.5(HBB):c.39T>C (p.Thr13=) rs1554918207
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000518.5(HBB):c.57G>A (p.Val19=) rs1554918177
NM_000518.5(HBB):c.6G>A (p.Val2=) rs1349384278
NM_000518.5(HBB):c.84C>T (p.Ala28=) rs748296717
NM_000518.5(HBB):c.87G>C (p.Leu29=) rs1191121382
NM_000520.6(HEXA):c.531T>A (p.Ser177=) rs747703708
NM_000524.4(HTR1A):c.390C>A (p.Ile130=) rs2111832315
NM_000527.5(LDLR):c.1230G>A (p.Arg410=) rs879254839
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1836C>A (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2231_2232delinsAG (p.Arg744Gln) rs1555808091
NM_000527.5(LDLR):c.2319C>A (p.Gly773=) rs377563758
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.270T>C (p.Asp90=) rs372828849
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000535.7(PMS2):c.1224T>C (p.Thr408=) rs1554298007
NM_000535.7(PMS2):c.1269C>G (p.Ala423=) rs921253631
NM_000535.7(PMS2):c.1338T>C (p.Pro446=) rs786203033
NM_000535.7(PMS2):c.1389T>C (p.Ser463=) rs1554297811
NM_000535.7(PMS2):c.1422A>C (p.Ala474=) rs1057522125
NM_000535.7(PMS2):c.1482G>A (p.Ser494=) rs864622398
NM_000535.7(PMS2):c.1569C>T (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.1617G>A (p.Ala539=) rs776931237
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln) rs587780725
NM_000535.7(PMS2):c.1902T>C (p.His634=) rs376335675
NM_000535.7(PMS2):c.2085C>T (p.Ile695=) rs757157176
NM_000535.7(PMS2):c.2160G>C (p.Gly720=) rs546441038
NM_000535.7(PMS2):c.2166G>A (p.Arg722=) rs863224367
NM_000535.7(PMS2):c.21G>C (p.Ser7=) rs587780726
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe) rs758225108
NM_000535.7(PMS2):c.2217G>C (p.Leu739=) rs752718686
NM_000535.7(PMS2):c.2343G>A (p.Gln781=) rs786202531
NM_000535.7(PMS2):c.2382T>C (p.Pro794=) rs1057521269
NM_000535.7(PMS2):c.2385G>A (p.Gly795=) rs372868520
NM_000535.7(PMS2):c.2388C>T (p.Val796=) rs876660875
NM_000535.7(PMS2):c.2463T>C (p.Ala821=) rs1583270315
NM_000535.7(PMS2):c.2538A>G (p.Gly846=) rs863224368
NM_000535.7(PMS2):c.2559C>T (p.Ile853=) rs371673459
NM_000535.7(PMS2):c.2566C>T (p.Leu856=) rs1421089696
NM_000535.7(PMS2):c.321G>A (p.Arg107=) rs756420858
NM_000535.7(PMS2):c.348A>C (p.Ala116=) rs763057312
NM_000535.7(PMS2):c.372C>G (p.Thr124=) rs1060504836
NM_000535.7(PMS2):c.384G>T (p.Ser128=) rs371342884
NM_000535.7(PMS2):c.387G>A (p.Ala129=) rs876658275
NM_000535.7(PMS2):c.411T>C (p.Phe137=) rs1785222735
NM_000535.7(PMS2):c.468A>T (p.Thr156=) rs1364918195
NM_000535.7(PMS2):c.495A>G (p.Thr165=) rs1057520513
NM_000535.7(PMS2):c.75G>A (p.Gln25=) rs1554306525
NM_000535.7(PMS2):c.789G>C (p.Leu263=)
NM_000535.7(PMS2):c.7C>A (p.Arg3=) rs763939668
NM_000535.7(PMS2):c.855A>G (p.Thr285=) rs1554300771
NM_000540.3(RYR1):c.10347+16_10347+22del
NM_000540.3(RYR1):c.1123-9del rs775029935
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.13747-13G>A
NM_000540.3(RYR1):c.6489C>A (p.Arg2163=)
NM_000540.3(RYR1):c.6897G>C (p.Val2299=) rs767454302
NM_000540.3(RYR1):c.7765C>T (p.Leu2589=)
NM_000540.3(RYR1):c.7835+12C>G
NM_000540.3(RYR1):c.8616+15C>T
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1309+16T>C
NM_000545.8(HNF1A):c.1341G>A (p.Pro447=)
NM_000545.8(HNF1A):c.1689C>G (p.Thr563=)
NM_000545.8(HNF1A):c.872C>A (p.Pro291Gln) rs193922606
NM_000546.6(TP53):c.1011C>G (p.Arg337=) rs1218459955
NM_000546.6(TP53):c.1079G>T (p.Gly360Val) rs35993958
NM_000546.6(TP53):c.18A>G (p.Ser6=) rs573130482
NM_000546.6(TP53):c.215_216delinsGT (p.Pro72Arg) rs878854066
NM_000546.6(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000546.6(TP53):c.450A>C (p.Thr150=) rs754020850
NM_000546.6(TP53):c.456G>A (p.Pro152=) rs876659481
NM_000546.6(TP53):c.66A>G (p.Leu22=) rs748527030
NM_000546.6(TP53):c.924G>C (p.Leu308=) rs786202546
NM_000548.5(TSC2):c.1422C>T (p.Leu474=) rs565646854
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.486C>T (p.Asp162=) rs45473598
NM_000551.4(VHL):c.549G>T (p.Ser183=) rs193922614
NM_000552.5(VWF):c.1613C>T (p.Pro538Leu) rs139196998
NM_000552.5(VWF):c.1848G>C (p.Ser616=)
NM_000552.5(VWF):c.1946-9C>T
NM_000552.5(VWF):c.2973A>G (p.Lys991=)
NM_000552.5(VWF):c.3024C>T (p.Thr1008=)
NM_000552.5(VWF):c.56-17G>A
NM_000552.5(VWF):c.5793G>A (p.Gln1931=)
NM_000552.5(VWF):c.6104G>A (p.Gly2035Asp)
NM_000552.5(VWF):c.6901+14C>T
NM_000552.5(VWF):c.7624A>G (p.Ile2542Val)
NM_000558.3(HBA1):c.49A>G (p.Lys17Glu) rs41407250
NM_000612.6(IGF2):c.513C>A (p.Ala171=)
NM_000639.3(FASLG):c.540C>T (p.Gly180=)
NM_000702.4(ATP1A2):c.255T>G (p.Pro85=)
NM_000718.4(CACNA1B):c.2352C>T (p.Cys784=)
NM_000719.7(CACNA1C):c.2229C>T (p.Ile743=) rs759734767
NM_000719.7(CACNA1C):c.3939C>T (p.Pro1313=) rs2094569738
NM_000719.7(CACNA1C):c.5145G>A (p.Arg1715=) rs761205516
NM_000726.5(CACNB4):c.521+11A>G
NM_000726.5(CACNB4):c.699+15T>C
NM_000797.4(DRD4):c.1016G>A (p.Gly339Asp)
NM_000810.4(GABRA5):c.30C>T (p.Ile10=)
NM_000815.5(GABRD):c.848-17C>T
NM_000823.4(GHRHR):c.201G>A (p.Thr67=)
NM_000829.4(GRIA4):c.2047-16T>C
NM_000834.5(GRIN2B):c.1099C>T (p.Leu367=) rs1057522928
NM_000834.5(GRIN2B):c.2599-19C>T
NM_000875.5(IGF1R):c.2956+11G>A
NM_000891.3(KCNJ2):c.207C>G (p.Leu69=) rs1007358932
NM_000921.5(PDE3A):c.2139+12A>G
NM_001001344.3(ATP2B3):c.3051+17C>T
NM_001001557.4(GDF6):c.399G>A (p.Arg133=)
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001005242.3(PKP2):c.1245G>A (p.Val415=) rs1555145513
NM_001005242.3(PKP2):c.567A>G (p.Leu189=) rs1555148149
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860
NM_001005273.3(CHD3):c.1344G>A (p.Glu448=)
NM_001009944.3(PKD1):c.6747G>C (p.Val2249=)
NM_001018005.2(TPM1):c.294G>A (p.Glu98=) rs747206706
NM_001018005.2(TPM1):c.563+353G>T
NM_001020658.2(PUM1):c.1252+17A>G
NM_001025356.3(ANO6):c.1309-15T>C
NM_001025356.3(ANO6):c.1449A>T (p.Val483=)
NM_001025356.3(ANO6):c.2526+10G>C
NM_001025356.3(ANO6):c.276A>G (p.Gln92=)
NM_001025603.2(RFX5):c.1032C>T (p.Ile344=) rs1557831362
NM_001032283.3(TMPO):c.565+1127C>T rs777779709
NM_001032283.3(TMPO):c.565+1782G>A rs763388598
NM_001032386.2(SUOX):c.1636T>A (p.Ter546Arg) rs574353697
NM_001033855.3(DCLRE1C):c.1119A>C (p.Gly373=) rs1554780259
NM_001035.3(RYR2):c.10632A>G (p.Pro3544=) rs1689897244
NM_001035.3(RYR2):c.11092-13_11092-11del rs397516499
NM_001035.3(RYR2):c.11092-14_11092-11del rs397516499
NM_001035.3(RYR2):c.11092-14_11092-11dup rs397516499
NM_001035.3(RYR2):c.1119T>C (p.Thr373=)
NM_001035.3(RYR2):c.11667T>C (p.Tyr3889=)
NM_001035.3(RYR2):c.11881-19G>T
NM_001035.3(RYR2):c.12240C>T (p.Tyr4080=) rs1335612184
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del) rs794728838
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT rs727504630
NM_001035.3(RYR2):c.1477-14_1477-11dup rs397516518
NM_001035.3(RYR2):c.1612+13_1612+14delinsGC rs1064795529
NM_001035.3(RYR2):c.1740A>G (p.Val580=) rs2150412954
NM_001035.3(RYR2):c.1932G>A (p.Leu644=)
NM_001035.3(RYR2):c.19G>A (p.Gly7Ser) rs779910353
NM_001035.3(RYR2):c.219C>T (p.Leu73=) rs1057522387
NM_001035.3(RYR2):c.459C>T (p.Thr153=)
NM_001035.3(RYR2):c.464-9_464-8delinsCC rs1572045142
NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala) rs778783933
NM_001035.3(RYR2):c.4821T>C (p.Asp1607=) rs868510940
NM_001035.3(RYR2):c.6556-16C>T rs1160418526
NM_001035.3(RYR2):c.711G>C (p.Leu237=) rs759018901
NM_001035.3(RYR2):c.848+18A>G
NM_001035.3(RYR2):c.8573TGGAGT[1] (p.Leu2860_Glu2861del) rs794728835
NM_001036.6(RYR3):c.280-12T>C
NM_001039.4(SCNN1G):c.1295-13C>T
NM_001039141.3(TRIOBP):c.6325-9G>C
NM_001039591.3(USP9X):c.654+9G>T
NM_001040113.2(MYH11):c.5819dup (p.Gln1941fs) rs747392139
NM_001040142.2(SCN2A):c.3850-13T>C
NM_001040142.2(SCN2A):c.4596C>A (p.Val1532=)
NM_001040142.2(SCN2A):c.81A>G (p.Gln27=) rs1162322343
NM_001042492.3(NF1):c.1332T>C (p.Gly444=) rs1597688871
NM_001042492.3(NF1):c.1764T>C (p.His588=) rs1229784876
NM_001042492.3(NF1):c.2028C>G (p.Thr676=) rs878853873
NM_001042492.3(NF1):c.2661A>G (p.Ala887=) rs1555614292
NM_001042492.3(NF1):c.2739A>C (p.Ile913=)
NM_001042492.3(NF1):c.6072A>G (p.Gly2024=) rs2151553361
NM_001042492.3(NF1):c.7458-18A>G rs371362605
NM_001042492.3(NF1):c.753C>T (p.Asp251=) rs1567826636
NM_001042492.3(NF1):c.7830T>G (p.Leu2610=) rs1555536705
NM_001042492.3(NF1):c.8286C>T (p.Tyr2762=) rs1597870245
NM_001042545.2(LTBP4):c.56_67dup (p.Leu19_Gln22dup) rs1220133830
NM_001042681.2(RERE):c.4407C>T (p.Pro1469=)
NM_001042750.2(STAG2):c.2025+20C>T
NM_001048174.2(MUTYH):c.1002C>T (p.Ala334=) rs878854182
NM_001048174.2(MUTYH):c.1287G>A (p.Gly429=) rs1553125186
NM_001048174.2(MUTYH):c.1347G>A (p.Thr449=) rs74318065
NM_001048174.2(MUTYH):c.1393-9_1393-7del rs763940868
NM_001048174.2(MUTYH):c.1464G>C (p.Pro488=) rs143796254
NM_001048174.2(MUTYH):c.1471C>A (p.Arg491=) rs754364718
NM_001048174.2(MUTYH):c.1485C>A (p.Arg495=) rs773072703
NM_001048174.2(MUTYH):c.1494G>A (p.Gln498=) rs1570312666
NM_001048174.2(MUTYH):c.1518G>A (p.Arg506=) rs1570311414
NM_001048174.2(MUTYH):c.390A>T (p.Thr130=) rs780182847
NM_001048174.2(MUTYH):c.561G>A (p.Val187=) rs1570416200
NM_001048174.2(MUTYH):c.690T>C (p.Val230=) rs1645076441
NM_001048174.2(MUTYH):c.789C>A (p.Thr263=) rs1557470723
NM_001048174.2(MUTYH):c.867C>T (p.Leu289=) rs11211096
NM_001048174.2(MUTYH):c.888G>A (p.Ser296=) rs771683103
NM_001060.6(TBXA2R):c.186C>A (p.Ser62=)
NM_001061.7(TBXAS1):c.1135-14G>A
NM_001061.7(TBXAS1):c.813C>G (p.Ala271=)
NM_001069.3(TUBB2A):c.228C>T (p.Val76=)
NM_001079.4(ZAP70):c.360C>T (p.Asp120=) rs768492740
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_001079802.2(FKTN):c.1185G>A (p.Pro395=) rs141886790
NM_001079872.2(CUL4B):c.1173+18C>G
NM_001080449.3(DNA2):c.2698-20C>G
NM_001080449.3(DNA2):c.720-9T>G
NM_001080449.3(DNA2):c.74+12G>A
NM_001080449.3(DNA2):c.74+17dup
NM_001083619.3(GRIA2):c.390C>T (p.Pro130=)
NM_001083619.3(GRIA2):c.720+19A>T
NM_001083961.2(WDR62):c.1768+17C>T
NM_001083962.2(TCF4):c.1062T>C (p.Ser354=)
NM_001083962.2(TCF4):c.499+12C>G
NM_001085049.3(MRAS):c.552GAA[4] (p.Lys189del) rs752298978
NM_001098671.2(RASGRP2):c.195G>A (p.Lys65=)
NM_001102469.2(LIPN):c.302del (p.Gly101fs) rs770938795
NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.4(ACTN2):c.2577C>T (p.Ala859=) rs193922636
NM_001103.4(ACTN2):c.537-13G>A
NM_001103.4(ACTN2):c.537-9G>C
NM_001105206.3(LAMA4):c.1779T>C (p.His593=)
NM_001105206.3(LAMA4):c.4170G>A (p.Arg1390=)
NM_001105206.3(LAMA4):c.4967G>T (p.Gly1656Val) rs41289900
NM_001105206.3(LAMA4):c.5113-11A>G
NM_001105206.3(LAMA4):c.85G>A (p.Asp29Asn) rs150662822
NM_001105247.2(ARMC5):c.1771C>T (p.Leu591=)
NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys) rs571454176
NM_001110556.2(FLNA):c.2853T>C (p.Tyr951=)
NM_001110556.2(FLNA):c.3681G>A (p.Gly1227=) rs1273882054
NM_001110556.2(FLNA):c.468C>T (p.Asp156=)
NM_001110556.2(FLNA):c.5505C>T (p.Ser1835=)
NM_001110556.2(FLNA):c.5558-12_5558-10delinsCTT
NM_001110556.2(FLNA):c.6216C>T (p.Thr2072=)
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) rs201314910
NM_001110792.2(MECP2):c.528C>T (p.Ser176=) rs1557136964
NM_001110792.2(MECP2):c.550C>A (p.Pro184Thr) rs61748426
NM_001110792.2(MECP2):c.786C>G (p.Arg262=) rs61748424
NM_001111125.3(IQSEC2):c.1000-17C>G
NM_001122764.3(PPOX):c.1047C>T (p.Asp349=)
NM_001126108.2(SLC12A3):c.2286-18C>T
NM_001127898.4(CLCN5):c.2199G>A (p.Thr733=)
NM_001128.6(AP1G1):c.757T>C (p.Leu253=)
NM_001128159.3(VPS53):c.2458C>G (p.Arg820Gly) rs561656938
NM_001128425.2(MUTYH):c.192C>T (p.Ala64=) rs760321509
NM_001128425.2(MUTYH):c.9G>T (p.Pro3=) rs958040221
NM_001128840.3(CACNA1D):c.1842G>A (p.Gly614=)
NM_001128840.3(CACNA1D):c.2160C>T (p.Gly720=) rs927365957
NM_001128840.3(CACNA1D):c.5832C>G (p.Pro1944=)
NM_001130438.3(SPTAN1):c.201A>G (p.Ala67=)
NM_001130438.3(SPTAN1):c.2871+10dup
NM_001130987.2(DYSF):c.3166C>A (p.Arg1056=) rs369607332
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu) rs61742872
NM_001130987.2(DYSF):c.5412G>A (p.Val1804=)
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) rs397516593
NM_001134363.3(RBM20):c.1900C>A (p.Arg634=) rs796734066
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del) rs397516603
NM_001134363.3(RBM20):c.3331G>A (p.Val1111Met) rs77110978
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) rs753102653
NM_001134363.3(RBM20):c.532C>A (p.Arg178=) rs794729161
NM_001134673.4(NFIA):c.946+16G>T
NM_001135998.3(NDUFB11):c.282C>T (p.Gly94=)
NM_001136271.3(NKX2-6):c.359G>C (p.Arg120Pro) rs61743032
NM_001145358.2(SIN3A):c.2093+18C>T
NM_001145358.2(SIN3A):c.2577C>T (p.Gly859=)
NM_001145358.2(SIN3A):c.624T>C (p.Val208=)
NM_001145809.2(MYH14):c.2585+12C>T
NM_001148.6(ANK2):c.10362G>C (p.Arg3454Ser) rs55726422
NM_001148.6(ANK2):c.10734T>C (p.Asp3578=)
NM_001148.6(ANK2):c.10962A>G (p.Glu3654=) rs1564112382
NM_001148.6(ANK2):c.11032+19delinsGTG rs2096464205
NM_001148.6(ANK2):c.11032+8TG[6] rs749676836
NM_001148.6(ANK2):c.11262A>G (p.Ser3754=) rs780604005
NM_001148.6(ANK2):c.3255G>A (p.Ala1085=) rs56173868
NM_001148.6(ANK2):c.4695C>T (p.Ile1565=)
NM_001148.6(ANK2):c.5231C>A (p.Ala1744Asp) rs147706514
NM_001151.4(SLC25A4):c.60C>A (p.Ala20=)
NM_001159699.2(FHL1):c.737-9del rs374867802
NM_001161352.2(KCNMA1):c.1224-14C>T
NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=) rs369399624
NM_001165963.4(SCN1A):c.5797C>A (p.Arg1933=) rs1351809843
NM_001170629.2(CHD8):c.1717-21dup
NM_001174089.2(SLC4A11):c.1675G>A (p.Val559Met)
NM_001174147.2(LMX1B):c.273C>T (p.Thr91=)
NM_001193315.2(VIPAS39):c.1038A>G (p.Thr346=)
NM_001193315.2(VIPAS39):c.225T>C (p.Ala75=)
NM_001197104.2(KMT2A):c.2544G>C (p.Gly848=)
NM_001199753.2(CPT1C):c.1611G>A (p.Leu537=)
NM_001201550.3(CFHR4):c.1471T>G (p.Tyr491Asp)
NM_001201550.3(CFHR4):c.440-11T>C
NM_001220.5(CAMK2B):c.1881C>T (p.Asp627=) rs1463275169
NM_001231.5(CASQ1):c.829-9C>G
NM_001242896.3(DEPDC5):c.2995C>A (p.Arg999=) rs375050296
NM_001242896.3(DEPDC5):c.871+13T>A
NM_001244008.2(KIF1A):c.4123-11G>C rs369835159
NM_001244008.2(KIF1A):c.5022-16CT[5]
NM_001244008.2(KIF1A):c.5214+16G>T rs1280442556
NM_001256071.3(RNF213):c.5601G>A (p.Pro1867=)
NM_001256317.3(TMPRSS3):c.871G>C (p.Val291Leu)
NM_001257293.2(HNRNPH1):c.397+14_397+15delinsA
NM_001267550.2(TTN):c.100119C>T (p.Gly33373=)
NM_001267550.2(TTN):c.10047C>T (p.Thr3349=) rs2089949892
NM_001267550.2(TTN):c.103731G>A (p.Gln34577=)
NM_001267550.2(TTN):c.103909C>A (p.Arg34637=) rs200716930
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.106398T>C (p.Tyr35466=) rs1553482820
NM_001267550.2(TTN):c.107895T>C (p.Asp35965=)
NM_001267550.2(TTN):c.14775G>C (p.Gly4925=) rs755413215
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr) rs201744218
NM_001267550.2(TTN):c.14985A>C (p.Pro4995=) rs760725256
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile) rs72648929
NM_001267550.2(TTN):c.156C>G (p.Pro52=) rs72647842
NM_001267550.2(TTN):c.16055-16C>G
NM_001267550.2(TTN):c.17183-5G>A rs1553924621
NM_001267550.2(TTN):c.18063A>G (p.Gln6021=)
NM_001267550.2(TTN):c.20415G>A (p.Lys6805=) rs2154304580
NM_001267550.2(TTN):c.20745A>C (p.Ala6915=) rs2154304288
NM_001267550.2(TTN):c.21489C>G (p.Thr7163=) rs376882041
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.23538C>T (p.Phe7846=) rs149523263
NM_001267550.2(TTN):c.23853C>T (p.Ala7951=) rs201766927
NM_001267550.2(TTN):c.2494-16C>T rs532479339
NM_001267550.2(TTN):c.2607T>C (p.Thr869=) rs143969192
NM_001267550.2(TTN):c.27608-21_27608-18del rs760040610
NM_001267550.2(TTN):c.2775+19G>T rs199707799
NM_001267550.2(TTN):c.31113T>C (p.Tyr10371=)
NM_001267550.2(TTN):c.31281G>A (p.Lys10427=) rs868824599
NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu) rs768632287
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.34113A>G (p.Leu11371=)
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del) rs763098227
NM_001267550.2(TTN):c.34938T>G (p.Thr11646=)
NM_001267550.2(TTN):c.36044C>G (p.Thr12015Arg) rs199868380
NM_001267550.2(TTN):c.38978A>C (p.Glu12993Ala)
NM_001267550.2(TTN):c.39295+9G>C
NM_001267550.2(TTN):c.39543T>C (p.Ala13181=) rs1228797651
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.41232C>T (p.His13744=) rs2060459708
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val) rs72677221
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met) rs74580375
NM_001267550.2(TTN):c.45148C>T (p.Leu15050=)
NM_001267550.2(TTN):c.46788A>G (p.Lys15596=) rs1576521599
NM_001267550.2(TTN):c.47127C>T (p.Asp15709=)
NM_001267550.2(TTN):c.47898T>C (p.Ser15966=) rs2154208346
NM_001267550.2(TTN):c.47946C>T (p.Ile15982=)
NM_001267550.2(TTN):c.4989A>T (p.Pro1663=) rs756408474
NM_001267550.2(TTN):c.50202C>T (p.Ser16734=) rs938879027
NM_001267550.2(TTN):c.50811C>T (p.Ser16937=) rs780845171
NM_001267550.2(TTN):c.50857+10C>G rs1553695761
NM_001267550.2(TTN):c.52000C>T (p.Leu17334=)
NM_001267550.2(TTN):c.5235T>G (p.Leu1745=)
NM_001267550.2(TTN):c.53469C>T (p.Asp17823=)
NM_001267550.2(TTN):c.54636T>C (p.Tyr18212=) rs397517620
NM_001267550.2(TTN):c.55245T>C (p.Asp18415=) rs2053598248
NM_001267550.2(TTN):c.55270-10T>C
NM_001267550.2(TTN):c.55728G>A (p.Pro18576=) rs727504598
NM_001267550.2(TTN):c.56963-19_56963-18delinsTC rs2154190692
NM_001267550.2(TTN):c.57297A>G (p.Arg19099=) rs2052118527
NM_001267550.2(TTN):c.57345T>C (p.Tyr19115=) rs879000172
NM_001267550.2(TTN):c.5739C>T (p.Thr1913=) rs530291008
NM_001267550.2(TTN):c.5979G>A (p.Glu1993=) rs2154345900
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu) rs72646843
NM_001267550.2(TTN):c.62403T>G (p.Val20801=)
NM_001267550.2(TTN):c.62925A>G (p.Val20975=) rs2049614682
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu) rs141142920
NM_001267550.2(TTN):c.64029C>G (p.Val21343=) rs186381468
NM_001267550.2(TTN):c.65688T>A (p.Ser21896=)
NM_001267550.2(TTN):c.66429C>T (p.Asp22143=) rs1367041984
NM_001267550.2(TTN):c.68225-18T>C rs1416277306
NM_001267550.2(TTN):c.69888C>G (p.Leu23296=) rs2154172842
NM_001267550.2(TTN):c.70203T>C (p.Ile23401=) rs2154172628
NM_001267550.2(TTN):c.70623C>A (p.Ile23541=)
NM_001267550.2(TTN):c.72114G>C (p.Thr24038=) rs768064912
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del) rs543318580
NM_001267550.2(TTN):c.74871G>A (p.Lys24957=)
NM_001267550.2(TTN):c.76050A>G (p.Arg25350=)
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met) rs56372592
NM_001267550.2(TTN):c.78068T>C (p.Ile26023Thr) rs572384303
NM_001267550.2(TTN):c.79485C>T (p.His26495=)
NM_001267550.2(TTN):c.79785C>T (p.Asp26595=) rs1553587704
NM_001267550.2(TTN):c.79806T>C (p.Ile26602=) rs770125328
NM_001267550.2(TTN):c.81276A>G (p.Gln27092=) rs1705100328
NM_001267550.2(TTN):c.8231G>C (p.Gly2744Ala) rs556908341
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys) rs55933739
NM_001267550.2(TTN):c.82980A>C (p.Leu27660=) rs760972930
NM_001267550.2(TTN):c.84198G>A (p.Glu28066=) rs2154160299
NM_001267550.2(TTN):c.86448C>T (p.Asn28816=) rs774349799
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met) rs201290358
NM_001267550.2(TTN):c.88488A>G (p.Ala29496=)
NM_001267550.2(TTN):c.8895A>G (p.Thr2965=)
NM_001267550.2(TTN):c.89457A>G (p.Gly29819=) rs1553542686
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722
NM_001267550.2(TTN):c.90968G>C (p.Arg30323Thr) rs11887722
NM_001267550.2(TTN):c.91267G>A (p.Val30423Ile)
NM_001267550.2(TTN):c.93939C>T (p.Thr31313=) rs771653811
NM_001267550.2(TTN):c.94086T>C (p.Ser31362=) rs919009792
NM_001267550.2(TTN):c.94431G>A (p.Leu31477=)
NM_001267550.2(TTN):c.95598C>T (p.Thr31866=) rs1553520323
NM_001267550.2(TTN):c.95961C>A (p.Ala31987=) rs369405564
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) rs200540781
NM_001267550.2(TTN):c.97539T>A (p.Arg32513=)
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001267550.2(TTN):c.98721C>A (p.Leu32907=) rs375361462
NM_001267550.2(TTN):c.99567C>G (p.Leu33189=) rs745708104
NM_001270.4(CHD1):c.204T>C (p.Thr68=)
NM_001271.4(CHD2):c.2577+15_2577+20del
NM_001271696.3(ABCB7):c.944+10T>A
NM_001271938.2(MEGF8):c.6738C>T (p.Gly2246=) rs2039657364
NM_001272071.2(AP1S2):c.258T>C (p.Tyr86=)
NM_001273.5(CHD4):c.4060+16C>T
NM_001276309.3(NOL3):c.-8-14C>T
NM_001276345.2(TNNT2):c.441G>A (p.Gln147=) rs1044313920
NM_001283009.2(RTEL1):c.3618A>G (p.Ser1206=) rs200452563
NM_001287.6(CLCN7):c.676-12C>A
NM_001289.6(CLIC2):c.168-17A>T
NM_001289808.2(CRYAB):c.117G>T (p.Pro39=)
NM_001291303.3(FAT4):c.4944G>A (p.Val1648=)
NM_001291303.3(FAT4):c.738C>T (p.Asn246=)
NM_001291415.2(KDM6A):c.876-14C>T rs1192148930
NM_001303256.3(MORC2):c.2331A>G (p.Ser777=)
NM_001321075.3(DLG4):c.1694-20G>A
NM_001323289.2(CDKL5):c.597T>C (p.Cys199=)
NM_001329943.3(KIAA0586):c.3168T>C (p.Pro1056=)
NM_001330260.2(SCN8A):c.2242T>C (p.Leu748=) rs2138838573
NM_001330260.2(SCN8A):c.270G>A (p.Thr90=) rs371712630
NM_001330260.2(SCN8A):c.4887T>G (p.Arg1629=) rs774981346
NM_001347721.2(DYRK1A):c.1803CCA[7] (p.His609_His610dup) rs760576043
NM_001348716.2(KDM6B):c.457-13C>T
NM_001349253.2(SCN11A):c.4278C>T (p.Thr1426=)
NM_001353345.2(SETD1B):c.5721C>T (p.Ser1907=)
NM_001356.5(DDX3X):c.1227C>T (p.Gly409=)
NM_001360.3(DHCR7):c.466C>T (p.Leu156=) rs1565588103
NM_001365276.2(TNXB):c.4431A>G (p.Leu1477=)
NM_001365276.2(TNXB):c.9057C>T (p.His3019=)
NM_001365536.1(SCN9A):c.3925-10T>C
NM_001365536.1(SCN9A):c.5028T>C (p.Asn1676=) rs1553473212
NM_001365902.3(NFIX):c.87C>G (p.Thr29=)
NM_001365999.1(SZT2):c.6039T>C (p.Tyr2013=) rs1192938717
NM_001365999.1(SZT2):c.7020G>A (p.Pro2340=) rs375793150
NM_001366110.1(PAX4):c.211G>T (p.Gly71Cys) rs112061448
NM_001366521.1(ATP2B1):c.90G>T (p.Thr30=)
NM_001366722.1(GRIP1):c.386T>C (p.Val129Ala) rs568959118
NM_001367561.1(DOCK7):c.3576A>G (p.Thr1192=)
NM_001367561.1(DOCK7):c.4282+16A>G
NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr) rs199528724
NM_001367624.2(ZNF469):c.10794G>A (p.Gly3598=)
NM_001367624.2(ZNF469):c.3003C>T (p.Ala1001=) rs993032767
NM_001367721.1(CASK):c.1806+17dup
NM_001368397.1(FRMPD4):c.867C>T (p.Phe289=)
NM_001368894.2(PAX6):c.724+14T>A
NM_001369268.1(ACAN):c.5318T>C (p.Leu1773Pro)
NM_001370259.2(MEN1):c.1548G>A (p.Arg516=) rs1297016658
NM_001370259.2(MEN1):c.249G>A (p.Leu83=) rs386134252
NM_001371904.1(APOA5):c.119G>T (p.Arg40Met)
NM_001371904.1(APOA5):c.56C>G (p.Ser19Trp) rs3135506
NM_001371904.1(APOA5):c.625C>T (p.Leu209=)
NM_001371986.1(UNC80):c.7392T>A (p.Ile2464=)
NM_001374353.1(GLI2):c.1468-12G>A
NM_001374353.1(GLI2):c.1633-15T>C
NM_001374828.1(ARID1B):c.2016G>T (p.Val672=)
NM_001375380.1(EBF3):c.412-11C>A
NM_001375524.1(TRRAP):c.9108G>T (p.Ala3036=)
NM_001375524.1(TRRAP):c.9711C>T (p.Cys3237=)
NM_001376.5(DYNC1H1):c.11475C>T (p.Tyr3825=)
NM_001376.5(DYNC1H1):c.11952C>T (p.Gly3984=)
NM_001376.5(DYNC1H1):c.5499C>G (p.Ala1833=)
NM_001376571.1(MADD):c.1705+15C>T
NM_001377265.1(MAPT):c.1571C>G (p.Thr524Ser)
NM_001378120.1(MBD5):c.156A>G (p.Thr52=) rs796958008
NM_001378418.1(TCF20):c.1602G>A (p.Val534=)
NM_001378418.1(TCF20):c.2061A>C (p.Ala687=)
NM_001378452.1(ITPR1):c.3705C>G (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.6180+13C>T
NM_001378454.1(ALMS1):c.12234A>G (p.Ala4078=) rs374508659
NM_001378454.1(ALMS1):c.12481C>T (p.Leu4161=)
NM_001378454.1(ALMS1):c.234C>G (p.Ala78=) rs368947491
NM_001378454.1(ALMS1):c.36GGA[10] (p.Glu26_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[19] (p.Glu23_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[20] (p.Glu22_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[21] (p.Glu21_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.45G>A (p.Glu15=) rs1558624512
NM_001378454.1(ALMS1):c.66G>A (p.Glu22=) rs1574423753
NM_001378454.1(ALMS1):c.7473C>T (p.Ser2491=) rs1572938980
NM_001378454.1(ALMS1):c.8721T>C (p.Ser2907=) rs1386201636
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup) rs746896173
NM_001378454.1(ALMS1):c.9540-11T>C
NM_001378457.1(DMXL2):c.4731A>G (p.Thr1577=)
NM_001378457.1(DMXL2):c.6775C>T (p.Leu2259=)
NM_001379029.1(CERT1):c.96+19C>T
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp) rs781731042
NM_001379403.1(WDR26):c.1163-14A>G
NM_001379610.1(SPINK1):c.216C>T (p.Leu72=)
NM_001382567.1(STIM1):c.1138-11C>T rs2094472695
NM_001384140.1(PCDH15):c.4323_4328dup (p.Pro1443_Gly1444insProPro)
NM_001385875.1(ZFYVE27):c.1089+10T>A
NM_001386795.1(DTNA):c.1646+18T>C
NM_001386795.1(DTNA):c.1766G>A (p.Arg589His) rs200246467
NM_001386795.1(DTNA):c.1821G>T (p.Ala607=) rs9959365
NM_001386795.1(DTNA):c.828C>T (p.Ala276=) rs756146461
NM_001395413.1(POR):c.1405G>A (p.Val469Met) rs72557946
NM_001447.3(FAT2):c.3337G>A (p.Gly1113Ser)
NM_001447.3(FAT2):c.555T>C (p.Tyr185=)
NM_001447.3(FAT2):c.6927T>C (p.Tyr2309=)
NM_001447.3(FAT2):c.8703C>T (p.Asp2901=)
NM_001447.3(FAT2):c.9811+15C>T
NM_001457.4(FLNB):c.7770A>G (p.Glu2590=)
NM_001458.5(FLNC):c.174C>A (p.Thr58=) rs763488290
NM_001458.5(FLNC):c.2007+18A>T
NM_001458.5(FLNC):c.42G>A (p.Leu14=)
NM_001458.5(FLNC):c.4323G>A (p.Val1441=)
NM_001458.5(FLNC):c.4737+20A>G
NM_001458.5(FLNC):c.7122C>G (p.Val2374=) rs374711133
NM_001458.5(FLNC):c.7389G>A (p.Lys2463=) rs2128940211
NM_001605.3(AARS1):c.2607+13C>A
NM_001613.4(ACTA2):c.495C>A (p.Val165=) rs1253704403
NM_001613.4(ACTA2):c.612T>C (p.Thr204=) rs1554841258
NM_001613.4(ACTA2):c.808+15C>T
NM_001614.5(ACTG1):c.363+12_363+13delinsAA
NM_001614.5(ACTG1):c.803-15G>T
NM_001677.4(ATP1B1):c.135C>T (p.Cys45=) rs774346745
NM_001711.6(BGN):c.333G>C (p.Lys111Asn)
NM_001711.6(BGN):c.480C>G (p.Ser160=)
NM_001715.3(BLK):c.574C>G (p.Arg192Gly)
NM_001733.7(C1R):c.2073C>T (p.Leu691=)
NM_001735.3(C5):c.3669C>A (p.Pro1223=)
NM_001752.4(CAT):c.625C>T (p.His209Tyr) rs147148220
NM_001813.3(CENPE):c.627+17A>G
NM_001844.5(COL2A1):c.1365+19C>A
NM_001845.6(COL4A1):c.3326-12T>G
NM_001845.6(COL4A1):c.3406+9C>T
NM_001845.6(COL4A1):c.552+17T>A
NM_001845.6(COL4A1):c.843A>C (p.Gly281=)
NM_001846.4(COL4A2):c.1340-10G>C
NM_001846.4(COL4A2):c.2043C>T (p.Cys681=)
NM_001849.4(COL6A2):c.955-19C>T
NM_001851.6(COL9A1):c.348G>A (p.Thr116=) rs779960146
NM_001852.4(COL9A2):c.364-16A>G rs1979785
NM_001853.4(COL9A3):c.576+9C>G rs377255816
NM_001854.4(COL11A1):c.2394+12G>T
NM_001854.4(COL11A1):c.2809-19T>C
NM_001927.4(DES):c.582G>A (p.Leu194=) rs397516696
NM_001943.5(DSG2):c.1280+4AG[3] rs876657791
NM_001943.5(DSG2):c.2235G>A (p.Thr745=) rs759572082
NM_001943.5(DSG2):c.858C>T (p.Val286=) rs1555671463
NM_001957.4(EDNRA):c.870G>A (p.Leu290=)
NM_001961.4(EEF2):c.2508G>A (p.Ala836=) rs761883790
NM_001961.4(EEF2):c.613-9C>T
NM_001987.5(ETV6):c.889C>T (p.Leu297=)
NM_001994.3(F13B):c.64+17A>T
NM_001999.4(FBN2):c.132G>A (p.Pro44=) rs199702573
NM_001999.4(FBN2):c.261C>T (p.Asn87=)
NM_001999.4(FBN2):c.2637C>T (p.Pro879=)
NM_001999.4(FBN2):c.287_289del (p.Tyr96del) rs555068280
NM_001999.4(FBN2):c.3473-16C>T
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His) rs142185964
NM_001999.4(FBN2):c.4472-18T>C
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.7418G>T (p.Arg2473Leu) rs28763925
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_001999.4(FBN2):c.827-10C>T
NM_002049.4(GATA1):c.599-10A>G
NM_002055.5(GFAP):c.376C>T (p.Arg126Trp)
NM_002063.4(GLRA2):c.366C>T (p.Ser122=)
NM_002113.3(CFHR1):c.310C>T (p.His104Tyr)
NM_002113.3(CFHR1):c.654C>T (p.Asp218=)
NM_002139.4(RBMX):c.93T>C (p.Tyr31=)
NM_002160.4(TNC):c.2860+3G>A
NM_002160.4(TNC):c.3637G>A (p.Val1213Ile)
NM_002160.4(TNC):c.5730C>T (p.Pro1910=)
NM_002206.3(ITGA7):c.3184-16C>G
NM_002230.4(JUP):c.1619G>A (p.Arg540His) rs376881608
NM_002230.4(JUP):c.2220A>G (p.Ala740=) rs142102308
NM_002230.4(JUP):c.318G>A (p.Val106=) rs1555605856
NM_002230.4(JUP):c.879G>A (p.Gln293=) rs1555604492
NM_002230.4(JUP):c.981G>A (p.Leu327=) rs1295630627
NM_002294.3(LAMP2):c.928+11C>T
NM_002317.7(LOX):c.618C>A (p.Gly206=)
NM_002317.7(LOX):c.66C>T (p.Ala22=)
NM_002317.7(LOX):c.73G>A (p.Ala25Thr)
NM_002335.4(LRP5):c.753C>T (p.Tyr251=)
NM_002470.4(MYH3):c.1821T>G (p.Val607=)
NM_002470.4(MYH3):c.5184G>A (p.Lys1728=)
NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu) rs61742472
NM_002471.4(MYH6):c.1243G>A (p.Gly415Arg) rs576432451
NM_002471.4(MYH6):c.2717G>A (p.Arg906His) rs527636904
NM_002471.4(MYH6):c.3164G>A (p.Arg1055Gln) rs540893860
NM_002471.4(MYH6):c.3552G>A (p.Thr1184=)
NM_002471.4(MYH6):c.3979-11_3979-9delinsG rs368229372
NM_002471.4(MYH6):c.3979-17_3979-16dup rs193922652
NM_002471.4(MYH6):c.3979-8del rs193922652
NM_002471.4(MYH6):c.4134G>A (p.Glu1378=) rs1555333539
NM_002471.4(MYH6):c.483C>T (p.Ala161=)
NM_002471.4(MYH6):c.972T>C (p.Ile324=) rs756529284
NM_002474.3(MYH11):c.1074T>C (p.Asn358=) rs2151282590
NM_002474.3(MYH11):c.1707C>G (p.Leu569=)
NM_002474.3(MYH11):c.1764G>C (p.Ala588=) rs375133214
NM_002474.3(MYH11):c.1791C>T (p.Asp597=) rs1305382714
NM_002474.3(MYH11):c.1929C>T (p.Ser643=) rs1456500560
NM_002474.3(MYH11):c.2055G>A (p.Lys685=) rs909578082
NM_002474.3(MYH11):c.3198C>T (p.Asp1066=) rs757270167
NM_002474.3(MYH11):c.3874G>C (p.Val1292Leu) rs151058774
NM_002474.3(MYH11):c.4855AAG[2] (p.Lys1621del) rs755547393
NM_002474.3(MYH11):c.5133G>A (p.Glu1711=)
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met) rs201960644
NM_002474.3(MYH11):c.555C>T (p.Thr185=) rs1266756941
NM_002474.3(MYH11):c.5786+19G>A
NM_002485.5(NBN):c.1194A>G (p.Gln398=) rs200046373
NM_002485.5(NBN):c.1995A>G (p.Lys665=) rs1554556540
NM_002485.5(NBN):c.267A>G (p.Arg89=) rs1554568316
NM_002485.5(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002485.5(NBN):c.804G>T (p.Thr268=) rs141443872
NM_002661.5(PLCG2):c.3165C>T (p.Ser1055=)
NM_002691.4(POLD1):c.1395G>A (p.Arg465=) rs2038884888
NM_002691.4(POLD1):c.2954-19C>T rs1469439009
NM_002691.4(POLD1):c.463+8_463+9delinsTT rs796285537
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.3(POLG):c.3033A>G (p.Pro1011=)
NM_002693.3(POLG):c.3483-14T>C rs587781119
NM_002693.3(POLG):c.573G>A (p.Glu191=)
NM_002693.3(POLG):c.915C>T (p.Ser305=)
NM_002709.3(PPP1CB):c.30C>T (p.Ser10=)
NM_002715.4(PPP2CA):c.102+11G>A
NM_002734.5(PRKAR1A):c.387C>G (p.Ala129=) rs1411849784
NM_002734.5(PRKAR1A):c.465G>A (p.Ser155=) rs746705941
NM_002734.5(PRKAR1A):c.489T>G (p.Thr163=) rs143672551
NM_002734.5(PRKAR1A):c.981T>C (p.Ile327=) rs2085937729
NM_002755.4(MAP2K1):c.1176C>T (p.Gly392=) rs781328871
NM_002755.4(MAP2K1):c.15G>A (p.Lys5=) rs2140511623
NM_002755.4(MAP2K1):c.291+14_291+15inv
NM_002755.4(MAP2K1):c.291+14_291+20delinsTCTCACCAATCACCA rs1064795401
NM_002755.4(MAP2K1):c.291+17T>C rs1294983448
NM_002755.4(MAP2K1):c.291+19A>C rs752759395
NM_002755.4(MAP2K1):c.546G>A (p.Glu182=) rs1567012356
NM_002755.4(MAP2K1):c.612C>A (p.Ile204=) rs2140667598
NM_002755.4(MAP2K1):c.645C>G (p.Leu215=) rs2140667933
NM_002769.5(PRSS1):c.162C>T (p.Asn54=) rs148440491
NM_002769.5(PRSS1):c.328T>C (p.Leu110=)
NM_002769.5(PRSS1):c.330A>G (p.Leu110=)
NM_002769.5(PRSS1):c.360C>T (p.Asn120=) rs606231348
NM_002769.5(PRSS1):c.468C>T (p.Asp156=) rs146076691
NM_002769.5(PRSS1):c.510G>A (p.Lys170=) rs750427023
NM_002778.4(PSAP):c.1278C>T (p.Asn426=) rs777227555
NM_002834.5(PTPN11):c.1011G>C (p.Thr337=) rs371951288
NM_002834.5(PTPN11):c.1089A>G (p.Gly363=) rs2038535689
NM_002834.5(PTPN11):c.1281C>T (p.Gly427=) rs753173299
NM_002834.5(PTPN11):c.1365C>T (p.Val455=) rs1379099808
NM_002834.5(PTPN11):c.1448-5C>T rs554790621
NM_002834.5(PTPN11):c.1506A>G (p.Ser502=)
NM_002834.5(PTPN11):c.1698G>A (p.Thr566=)
NM_002834.5(PTPN11):c.363A>G (p.Glu121=) rs2135866636
NM_002834.5(PTPN11):c.624A>G (p.Thr208=) rs864622409
NM_002834.5(PTPN11):c.643-17C>T
NM_002878.4(RAD51D):c.840C>T (p.Thr280=) rs751885496
NM_002878.4(RAD51D):c.879G>T (p.Ala293=) rs368209468
NM_002880.4(RAF1):c.1356G>A (p.Thr452=) rs766112769
NM_002880.4(RAF1):c.1537-19C>T
NM_002880.4(RAF1):c.1668+19G>A rs5746245
NM_002880.4(RAF1):c.168C>T (p.Asn56=) rs1553616614
NM_002880.4(RAF1):c.21T>C (p.Ala7=) rs886057915
NM_002880.4(RAF1):c.606T>C (p.Gly202=) rs754197477
NM_002880.4(RAF1):c.981A>G (p.Lys327=) rs2058814646
NM_002972.4(SBF1):c.2967+9C>A rs115010488
NM_003036.4(SKI):c.51G>A (p.Leu17=) rs763997001
NM_003042.4(SLC6A1):c.1191+9G>C rs761322748
NM_003070.5(SMARCA2):c.707_715dup (p.Gln238_Pro239insGlnGlnGln)
NM_003073.5(SMARCB1):c.669T>C (p.Cys223=) rs2146009569
NM_003085.5(SNCB):c.108C>T (p.Gly36=)
NM_003119.4(SPG7):c.377-12C>G
NM_003172.4(SURF1):c.15T>G (p.Ala5=) rs1180014887
NM_003179.3(SYP):c.375C>T (p.Tyr125=)
NM_003235.5(TG):c.3749G>T (p.Arg1250Leu) rs114944116
NM_003238.6(TGFB2):c.1167C>G (p.Thr389=) rs1660142912
NM_003238.6(TGFB2):c.189C>A (p.Val63=)
NM_003238.6(TGFB2):c.417G>A (p.Lys139=)
NM_003238.6(TGFB2):c.597C>G (p.Leu199=)
NM_003239.5(TGFB3):c.1221G>A (p.Lys407=)
NM_003239.5(TGFB3):c.153C>T (p.Leu51=) rs760506739
NM_003239.5(TGFB3):c.441C>T (p.Phe147=) rs560468476
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn) rs764941621
NM_003242.6(TGFBR2):c.516C>T (p.Leu172=) rs1301321642
NM_003242.6(TGFBR2):c.721C>T (p.Leu241=) rs2125434109
NM_003242.6(TGFBR2):c.78G>A (p.Pro26=) rs753781287
NM_003280.3(TNNC1):c.203-14C>T
NM_003482.4(KMT2D):c.12366A>G (p.Gly4122=)
NM_003482.4(KMT2D):c.1638C>T (p.Ser546=)
NM_003482.4(KMT2D):c.3086A>G (p.Gln1029Arg)
NM_003597.5(KLF11):c.1070A>G (p.Asn357Ser)
NM_003673.4(TCAP):c.111-11C>T
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys) rs146906267
NM_003719.5(PDE8B):c.129C>T (p.Leu43=)
NM_003719.5(PDE8B):c.2129+17C>T
NM_003748.4(ALDH4A1):c.1460+15C>T rs371777923
NM_003764.4(STX11):c.247A>G (p.Lys83Glu)
NM_003919.3(SGCE):c.464-10C>G
NM_003982.4(SLC7A7):c.625+18T>C rs974421997
NM_004004.6(GJB2):c.282C>T (p.His94=) rs766998544
NM_004004.6(GJB2):c.51C>T (p.Ser17=) rs1959063254
NM_004004.6(GJB2):c.645T>C (p.Ile215=) rs750216973
NM_004004.6(GJB2):c.69C>T (p.Ile23=)
NM_004006.3(DMD):c.3891C>A (p.Gly1297=) rs758317261
NM_004006.3(DMD):c.4942T>C (p.Leu1648=) rs138472027
NM_004035.7(ACOX1):c.269+4774_269+4787del
NM_004082.5(DCTN1):c.358+17_358+18insGA rs2103719288
NM_004086.3(COCH):c.83-17A>G
NM_004100.5(EYA4):c.103C>G (p.Leu35Val) rs35562371
NM_004100.5(EYA4):c.315C>T (p.Ser105=)
NM_004171.4(SLC1A2):c.1095T>C (p.Ala365=)
NM_004273.5(CHST3):c.591G>A (p.Leu197=)
NM_004281.4(BAG3):c.212G>T (p.Arg71Leu) rs35434411
NM_004304.5(ALK):c.3091C>T (p.Leu1031=) rs755537480
NM_004304.5(ALK):c.3120G>A (p.Val1040=) rs1553394893
NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del) rs138827116
NM_004329.3(BMPR1A):c.1101C>T (p.Asn367=) rs863224394
NM_004329.3(BMPR1A):c.1119T>C (p.Asn373=) rs1224219121
NM_004329.3(BMPR1A):c.117C>G (p.Ser39=) rs757333646
NM_004329.3(BMPR1A):c.1251G>A (p.Leu417=) rs1554891336
NM_004329.3(BMPR1A):c.195G>C (p.Gly65=) rs765437517
NM_004329.3(BMPR1A):c.352C>T (p.Leu118=) rs587782418
NM_004329.3(BMPR1A):c.430+10C>T rs863224395
NM_004329.3(BMPR1A):c.953A>G (p.Tyr318Cys) rs587778111
NM_004333.6(BRAF):c.1002G>A (p.Pro334=)
NM_004333.6(BRAF):c.111G>A (p.Ser37=) rs727502906
NM_004333.6(BRAF):c.1206C>T (p.Pro402=) rs201758035
NM_004333.6(BRAF):c.1245C>T (p.Ala415=)
NM_004333.6(BRAF):c.2064C>T (p.Ala688=) rs1554389847
NM_004333.6(BRAF):c.2128-16_2128-15delinsTC rs2130870208
NM_004333.6(BRAF):c.213G>A (p.Glu71=)
NM_004333.6(BRAF):c.279A>G (p.Gln93=) rs150050723
NM_004333.6(BRAF):c.612G>A (p.Glu204=) rs1202874043
NM_004333.6(BRAF):c.669T>C (p.His223=) rs2129047893
NM_004333.6(BRAF):c.83GCGCCG[2] (p.28GA[2]) rs397507458
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4]) rs397507458
NM_004360.5(CDH1):c.1170C>T (p.Asn390=) rs766505270
NM_004360.5(CDH1):c.120G>A (p.Thr40=) rs786201115
NM_004360.5(CDH1):c.1416C>T (p.Thr472=) rs139937234
NM_004360.5(CDH1):c.1530C>T (p.Ala510=) rs1597898262
NM_004360.5(CDH1):c.1690C>T (p.Leu564=) rs786201342
NM_004360.5(CDH1):c.1692A>T (p.Leu564=) rs1060504168
NM_004360.5(CDH1):c.1776C>T (p.Ala592=) rs876660329
NM_004360.5(CDH1):c.1917C>T (p.Thr639=) rs1057522719
NM_004360.5(CDH1):c.1983T>C (p.Gly661=) rs748114797
NM_004360.5(CDH1):c.2205G>C (p.Ala735=) rs138493551
NM_004360.5(CDH1):c.2370C>T (p.Thr790=) rs1596972620
NM_004360.5(CDH1):c.2493C>G (p.Leu831=) rs779267700
NM_004360.5(CDH1):c.2533C>T (p.Leu845=) rs1281904866
NM_004360.5(CDH1):c.2628C>T (p.Tyr876=) rs778681919
NM_004360.5(CDH1):c.270G>A (p.Arg90=) rs777822181
NM_004360.5(CDH1):c.408A>G (p.Gln136=) rs1060501229
NM_004360.5(CDH1):c.414A>G (p.Glu138=) rs1555515193
NM_004360.5(CDH1):c.45G>A (p.Leu15=) rs746331438
NM_004360.5(CDH1):c.516T>G (p.Pro172=) rs2152129814
NM_004360.5(CDH1):c.573C>T (p.Ser191=) rs1185108871
NM_004360.5(CDH1):c.671G>T (p.Arg224Leu) rs201511530
NM_004360.5(CDH1):c.69G>A (p.Gln23=) rs786202657
NM_004360.5(CDH1):c.717G>A (p.Gly239=) rs749491453
NM_004369.4(COL6A3):c.4258T>C (p.Leu1420=)
NM_004369.4(COL6A3):c.6627+19C>T
NM_004387.4(NKX2-5):c.237G>A (p.Pro79=) rs72554029
NM_004408.4(DNM1):c.1335+13C>T
NM_004415.4(DSP):c.1161T>A (p.Ser387=) rs1758909456
NM_004415.4(DSP):c.157T>G (p.Ser53Ala) rs397516918
NM_004415.4(DSP):c.319T>C (p.Leu107=)
NM_004415.4(DSP):c.3462T>A (p.Gly1154=) rs1554108086
NM_004415.4(DSP):c.3956C>G (p.Thr1319Ser) rs138599871
NM_004415.4(DSP):c.4521A>G (p.Leu1507=) rs1060500611
NM_004415.4(DSP):c.5116C>T (p.Leu1706=) rs1759432452
NM_004415.4(DSP):c.6072T>C (p.Ser2024=)
NM_004415.4(DSP):c.6153C>G (p.Ala2051=) rs193922670
NM_004415.4(DSP):c.6558G>A (p.Leu2186=) rs1759540433
NM_004415.4(DSP):c.6993T>C (p.Ser2331=) rs767282172
NM_004415.4(DSP):c.7893C>T (p.Ile2631=) rs778552693
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del) rs397516962
NM_004415.4(DSP):c.8320C>T (p.Leu2774=) rs397516964
NM_004415.4(DSP):c.8454C>T (p.Asn2818=)
NM_004415.4(DSP):c.8490C>A (p.Arg2830=) rs1221382084
NM_004463.3(FGD1):c.481+17A>G
NM_004522.3(KIF5C):c.820-13T>C
NM_004523.4(KIF11):c.1876-18G>C
NM_004526.4(MCM2):c.53G>C (p.Arg18Pro)
NM_004565.3(PEX14):c.48T>C (p.Thr16=) rs779545665
NM_004612.4(TGFBR1):c.1203C>A (p.Ile401=)
NM_004612.4(TGFBR1):c.1284T>C (p.Tyr428=) rs201163170
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup) rs11466445
NM_004612.4(TGFBR1):c.705C>G (p.Ser235=) rs1325342802
NM_004655.4(AXIN2):c.1338C>A (p.Val446=) rs369864600
NM_004655.4(AXIN2):c.1608G>A (p.Thr536=) rs1403070766
NM_004655.4(AXIN2):c.1821G>A (p.Gln607=) rs1242108165
NM_004733.4(SLC33A1):c.1518C>T (p.Ala506=)
NM_004736.4(XPR1):c.1502-13C>A
NM_004750.5(CRLF1):c.63_66delinsT (p.Leu26del)
NM_004780.3(TCEAL1):c.413A>G (p.Lys138Arg)
NM_004859.4(CLTC):c.525T>C (p.Asn175=)
NM_004870.4(MPDU1):c.619-17C>G
NM_004937.3(CTNS):c.685G>A (p.Gly229Ser) rs200336280
NM_004958.4(MTOR):c.163-20G>A
NM_004958.4(MTOR):c.5592G>A (p.Pro1864=) rs762660728
NM_004970.3(IGFALS):c.1143G>T (p.Val381=)
NM_004970.3(IGFALS):c.531C>T (p.Leu177=)
NM_004975.4(KCNB1):c.1570C>T (p.Leu524=)
NM_004984.4(KIF5A):c.1191C>T (p.Thr397=) rs1064797169
NM_004984.4(KIF5A):c.1701C>T (p.Asn567=) rs2140165659
NM_004985.5(KRAS):c.105A>C (p.Thr35=)
NM_004985.5(KRAS):c.451-5575A>G rs1555192913
NM_004985.5(KRAS):c.451-5604T>C rs397517476
NM_004990.4(MARS1):c.1842T>G (p.Ala614=)
NM_004990.4(MARS1):c.415-13A>G
NM_005045.4(RELN):c.9072T>C (p.Pro3024=)
NM_005050.4(ABCD4):c.1737G>A (p.Arg579=) rs761542324
NM_005084.4(PLA2G7):c.774G>A (p.Leu258=)
NM_005159.5(ACTC1):c.42C>T (p.Asn14=) rs1257278537
NM_005159.5(ACTC1):c.809-16del
NM_005159.5(ACTC1):c.809-58TG[16] rs59431308
NM_005159.5(ACTC1):c.809-58TG[18] rs59431308
NM_005159.5(ACTC1):c.809-58TG[27] rs59431308
NM_005159.5(ACTC1):c.809-58TG[36] rs59431308
NM_005159.5(ACTC1):c.915C>T (p.Thr305=) rs1049511214
NM_005184.4(CALM3):c.165G>A (p.Glu55=)
NM_005188.4(CBL):c.107ACC[9] (p.His41_His42dup) rs373212940
NM_005188.4(CBL):c.1431+10C>T
NM_005188.4(CBL):c.1512G>T (p.Pro504=) rs758285751
NM_005188.4(CBL):c.1564-16C>T rs992126448
NM_005188.4(CBL):c.1986C>G (p.Pro662=) rs1949996439
NM_005188.4(CBL):c.2052A>C (p.Pro684=) rs886047771
NM_005188.4(CBL):c.534A>G (p.Thr178=) rs1346848498
NM_005235.3(ERBB4):c.1452A>G (p.Arg484=)
NM_005271.5(GLUD1):c.1063C>T (p.His355Tyr)
NM_005334.3(HCFC1):c.1023C>T (p.Asp341=)
NM_005334.3(HCFC1):c.3858C>T (p.Thr1286=) rs1475324456
NM_005334.3(HCFC1):c.4203C>G (p.Pro1401=)
NM_005343.4(HRAS):c.192C>T (p.Tyr64=) rs2133990881
NM_005343.4(HRAS):c.69G>A (p.Leu23=) rs1589793671
NM_005343.4(HRAS):c.96C>T (p.Tyr32=) rs369039481
NM_005359.6(SMAD4):c.1473T>C (p.Gly491=) rs1207826883
NM_005359.6(SMAD4):c.279G>C (p.Val93=) rs1568203425
NM_005359.6(SMAD4):c.339A>G (p.Lys113=) rs1568203460
NM_005359.6(SMAD4):c.49C>T (p.Leu17=) rs1555684997
NM_005359.6(SMAD4):c.684A>C (p.Ile228=) rs1555685906
NM_005359.6(SMAD4):c.746_747delinsCC (p.Gln249Pro) rs587782209
NM_005359.6(SMAD4):c.798C>T (p.Thr266=) rs876660662
NM_005359.6(SMAD4):c.909T>G (p.Pro303=) rs141149381
NM_005360.5(MAF):c.621C>A (p.Ala207=)
NM_005391.5(PDK3):c.963+16T>C
NM_005445.4(SMC3):c.1671-12_1671-11del
NM_005477.3(HCN4):c.450C>T (p.Ala150=)
NM_005502.4(ABCA1):c.1191T>C (p.Ala397=)
NM_005502.4(ABCA1):c.1302C>T (p.Asp434=) rs372030899
NM_005502.4(ABCA1):c.1338C>G (p.Asp446Glu) rs148314522
NM_005502.4(ABCA1):c.2116-16G>A rs376099791
NM_005502.4(ABCA1):c.2604G>A (p.Glu868=) rs1482520924
NM_005502.4(ABCA1):c.3048C>T (p.Ala1016=) rs2118966484
NM_005502.4(ABCA1):c.336T>C (p.Leu112=)
NM_005502.4(ABCA1):c.3555C>A (p.Asn1185Lys)
NM_005502.4(ABCA1):c.3584G>A (p.Arg1195Gln)
NM_005502.4(ABCA1):c.3651C>A (p.Ala1217=)
NM_005502.4(ABCA1):c.3756C>T (p.Ala1252=)
NM_005502.4(ABCA1):c.4839T>C (p.Ile1613=)
NM_005502.4(ABCA1):c.5655A>G (p.Leu1885=)
NM_005502.4(ABCA1):c.655A>C (p.Arg219=)
NM_005585.5(SMAD6):c.264C>G (p.Gly88=) rs547033777
NM_005585.5(SMAD6):c.627G>A (p.Pro209=)
NM_005585.5(SMAD6):c.896C>G (p.Ser299Cys)
NM_005591.4(MRE11):c.19C>T (p.Leu7Phe) rs73517551
NM_005591.4(MRE11):c.2007A>G (p.Thr669=) rs1554999945
NM_005591.4(MRE11):c.235T>C (p.Leu79=) rs745332888
NM_005591.4(MRE11):c.573A>C (p.Arg191=) rs1555014571
NM_005592.4(MUSK):c.207-16T>C
NM_005633.4(SOS1):c.1293T>C (p.Gly431=)
NM_005633.4(SOS1):c.2127T>C (p.Tyr709=) rs1340535048
NM_005633.4(SOS1):c.214-18A>T
NM_005633.4(SOS1):c.2674-9T>C
NM_005633.4(SOS1):c.2811C>T (p.Ile937=) rs1668929693
NM_005633.4(SOS1):c.3136A>C (p.Arg1046=) rs1668859268
NM_005633.4(SOS1):c.3195T>C (p.Tyr1065=) rs1280224224
NM_005633.4(SOS1):c.3321C>T (p.Ser1107=)
NM_005633.4(SOS1):c.360T>C (p.Tyr120=)
NM_005633.4(SOS1):c.3658G>A (p.Val1220Met) rs776814547
NM_005633.4(SOS1):c.3709C>A (p.Pro1237Thr) rs371408734
NM_005633.4(SOS1):c.375G>A (p.Gln125=) rs1400246247
NM_005633.4(SOS1):c.3876T>C (p.Val1292=) rs1423591930
NM_005633.4(SOS1):c.396A>G (p.Ala132=) rs727505385
NM_005633.4(SOS1):c.483T>C (p.Asp161=) rs1553362598
NM_005633.4(SOS1):c.706T>C (p.Leu236=) rs1418372765
NM_005634.3(SOX3):c.1029C>G (p.Ala343=)
NM_005634.3(SOX3):c.588C>T (p.Arg196=) rs2148334684
NM_005660.3(SLC35A2):c.426+74G>A
NM_005666.4(CFHR2):c.206G>T (p.Arg69Leu)
NM_005666.4(CFHR2):c.59-12T>C
NM_005666.4(CFHR2):c.79A>G (p.Lys27Glu)
NM_005676.5(RBM10):c.2668-11C>T
NM_005732.4(RAD50):c.1311T>C (p.Thr437=) rs786202706
NM_005732.4(RAD50):c.1689A>G (p.Leu563=) rs1580994836
NM_005732.4(RAD50):c.1875C>T (p.Tyr625=) rs149201802
NM_005732.4(RAD50):c.2655G>A (p.Gln885=) rs1554099195
NM_005732.4(RAD50):c.36G>A (p.Val12=) rs1580974379
NM_005732.4(RAD50):c.3877_3879dup (p.Ile1293dup) rs765370709
NM_005751.5(AKAP9):c.11229G>A (p.Met3743Ile) rs143306820
NM_005751.5(AKAP9):c.11283C>G (p.Gly3761=) rs1817790066
NM_005751.5(AKAP9):c.8850C>T (p.Val2950=) rs1814382203
NM_005876.5(SPEG):c.6894G>A (p.Gly2298=)
NM_005891.3(ACAT2):c.490+12A>G
NM_005901.6(SMAD2):c.660G>A (p.Thr220=)
NM_005902.4(SMAD3):c.45G>C (p.Leu15=)
NM_005908.4(MANBA):c.1887T>C (p.Cys629=) rs2110193592
NM_005909.5(MAP1B):c.3264G>A (p.Glu1088=)
NM_005982.4(SIX1):c.597G>A (p.Lys199=)
NM_005993.5(TBCD):c.2261-15G>A
NM_006009.4(TUBA1A):c.828C>A (p.Ile276=)
NM_006016.6(CD164):c.175+689C>G
NM_006035.4(CDC42BPB):c.4592-17G>A
NM_006073.4(TRDN):c.1313T>A (p.Ile438Asn) rs2873479
NM_006079.5(CITED2):c.777C>T (p.Phe259=)
NM_006129.5(BMP1):c.433+15G>A
NM_006172.4(NPPA):c.426C>T (p.Ser142=) rs747448548
NM_006180.6(NTRK2):c.1937+10G>A
NM_006208.3(ENPP1):c.1635+16A>G
NM_006208.3(ENPP1):c.2230+18C>G
NM_006231.4(POLE):c.1440T>C (p.Ala480=) rs1248513702
NM_006231.4(POLE):c.1920G>A (p.Leu640=)
NM_006231.4(POLE):c.2089C>G (p.Pro697Ala) rs5744800
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.4(POLE):c.3990G>T (p.Pro1330=) rs777546371
NM_006231.4(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.4(POLE):c.6843C>T (p.Asn2281=) rs1166482142
NM_006258.4(PRKG1):c.514T>C (p.Leu172=)
NM_006258.4(PRKG1):c.642A>G (p.Thr214=) rs370640208
NM_006261.5(PROP1):c.114G>C (p.Ser38=) rs373656666
NM_006270.5(RRAS):c.454-13C>T
NM_006295.3(VARS1):c.1467+19C>T
NM_006383.4(CIB2):c.276G>A (p.Val92=)
NM_006393.3(NEBL):c.1339-11G>A
NM_006393.3(NEBL):c.1732C>T (p.Pro578Ser)
NM_006393.3(NEBL):c.342A>G (p.Ala114=)
NM_006506.5(RASA2):c.1410A>G (p.Ser470=)
NM_006506.5(RASA2):c.1548C>T (p.Ala516=)
NM_006506.5(RASA2):c.1934-10dup rs1560066820
NM_006506.5(RASA2):c.2205C>T (p.Leu735=) rs1029424231
NM_006506.5(RASA2):c.2469T>G (p.Pro823=) rs2107803362
NM_006506.5(RASA2):c.535G>A (p.Ala179Thr)
NM_006506.5(RASA2):c.618C>T (p.Asp206=) rs1560029184
NM_006506.5(RASA2):c.882A>G (p.Arg294=) rs2082908209
NM_006516.4(SLC2A1):c.183C>A (p.Leu61=)
NM_006662.3(SRCAP):c.2778C>G (p.Ala926=)
NM_006662.3(SRCAP):c.492+11C>A
NM_006734.4(HIVEP2):c.2076T>C (p.Cys692=)
NM_006734.4(HIVEP2):c.3420G>A (p.Ala1140=)
NM_006767.4(LZTR1):c.1545G>A (p.Glu515=) rs2147967370
NM_006767.4(LZTR1):c.1700G>A (p.Arg567His) rs372417941
NM_006767.4(LZTR1):c.1901A>C (p.Gln634Pro) rs770312150
NM_006767.4(LZTR1):c.1989C>T (p.Gly663=)
NM_006767.4(LZTR1):c.201-11T>G
NM_006767.4(LZTR1):c.201-15C>T
NM_006767.4(LZTR1):c.2043C>T (p.His681=) rs1414979503
NM_006767.4(LZTR1):c.234T>C (p.Asp78=)
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala) rs756485244
NM_006767.4(LZTR1):c.26G>T (p.Gly9Val) rs756485244
NM_006767.4(LZTR1):c.333T>C (p.Thr111=) rs1601716920
NM_006767.4(LZTR1):c.42G>A (p.Ala14=) rs1446469999
NM_006767.4(LZTR1):c.628C>A (p.Arg210=) rs150419186
NM_006767.4(LZTR1):c.81C>T (p.Ser27=)
NM_006767.4(LZTR1):c.822C>T (p.Leu274=) rs1924609774
NM_006772.3(SYNGAP1):c.2961C>T (p.Asp987=)
NM_006796.3(AFG3L2):c.1165-15T>C
NM_006852.6(TLK2):c.2139G>A (p.Leu713=)
NM_006888.6(CALM1):c.309A>T (p.Ala103=)
NM_006904.7(PRKDC):c.6G>C (p.Ala2=) rs1389165598
NM_006908.5(RAC1):c.69C>T (p.Tyr23=)
NM_006912.6(RIT1):c.238-12G>C
NM_006912.6(RIT1):c.264G>A (p.Gln88=)
NM_006912.6(RIT1):c.381A>G (p.Thr127=)
NM_006912.6(RIT1):c.639G>A (p.Lys213=) rs1673288442
NM_006939.4(SOS2):c.105T>C (p.His35=)
NM_006939.4(SOS2):c.1069-12G>A
NM_006939.4(SOS2):c.1773A>G (p.Gln591=)
NM_006939.4(SOS2):c.2061C>T (p.Ile687=) rs2139604581
NM_006939.4(SOS2):c.2397G>A (p.Pro799=) rs770022419
NM_006939.4(SOS2):c.2786-17_2786-16insTC rs1884170083
NM_006939.4(SOS2):c.3051A>C (p.Arg1017=) rs1243824770
NM_006946.4(SPTBN2):c.2816+11G>T
NM_006949.4(STXBP2):c.429+18C>G
NM_006950.3(SYN1):c.1398C>G (p.Gly466=)
NM_007078.3(LDB3):c.1344A>C (p.Ser448=) rs1193385379
NM_007078.3(LDB3):c.1362T>C (p.Thr454=) rs1444315677
NM_007078.3(LDB3):c.1365A>C (p.Pro455=) rs1349378353
NM_007078.3(LDB3):c.1716T>A (p.Pro572=)
NM_007078.3(LDB3):c.390AGGCACCCC[3] (p.131GTP[3]) rs750334087
NM_007078.3(LDB3):c.675C>G (p.Val225=) rs749425278
NM_007118.4(TRIO):c.1368+19del
NM_007118.4(TRIO):c.6388-14C>T
NM_007118.4(TRIO):c.7416C>T (p.Pro2472=)
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1513T>A (p.Ser505Thr) rs587781960
NM_007194.4(CHEK2):c.1623T>G (p.Ala541=) rs773670297
NM_007194.4(CHEK2):c.474A>C (p.Ala158=) rs745699485
NM_007194.4(CHEK2):c.474A>G (p.Ala158=) rs745699485
NM_007194.4(CHEK2):c.582C>T (p.Ser194=) rs761126328
NM_007194.4(CHEK2):c.592+81del rs746878232
NM_007194.4(CHEK2):c.612G>T (p.Leu204=) rs752876192
NM_007194.4(CHEK2):c.765G>A (p.Lys255=) rs750596640
NM_007194.4(CHEK2):c.873T>C (p.Phe291=)
NM_007294.4(BRCA1):c.1008A>G (p.Thr336=) rs1060504568
NM_007294.4(BRCA1):c.1083A>C (p.Ser361=) rs2053996252
NM_007294.4(BRCA1):c.1161C>T (p.Ser387=) rs1597877741
NM_007294.4(BRCA1):c.1173A>G (p.Glu391=) rs1131692097
NM_007294.4(BRCA1):c.1197T>C (p.His399=) rs1555592250
NM_007294.4(BRCA1):c.124A>G (p.Ile42Val) rs80357163
NM_007294.4(BRCA1):c.1251T>C (p.Asn417=) rs80357197
NM_007294.4(BRCA1):c.134+11A>G rs2055240251
NM_007294.4(BRCA1):c.135-11A>G rs769549104
NM_007294.4(BRCA1):c.1398G>A (p.Arg466=) rs1060504571
NM_007294.4(BRCA1):c.1467G>A (p.Glu489=) rs794726997
NM_007294.4(BRCA1):c.1506A>G (p.Leu502=) rs786203671
NM_007294.4(BRCA1):c.1533C>G (p.Gly511=) rs1280391272
NM_007294.4(BRCA1):c.1776C>T (p.Ser592=) rs876658911
NM_007294.4(BRCA1):c.1794A>G (p.Leu598=) rs876659644
NM_007294.4(BRCA1):c.1800C>T (p.Ile600=) rs80357452
NM_007294.4(BRCA1):c.1828A>C (p.Arg610=) rs398122644
NM_007294.4(BRCA1):c.1842G>A (p.Lys614=) rs760109939
NM_007294.4(BRCA1):c.1875A>G (p.Leu625=) rs786201429
NM_007294.4(BRCA1):c.1980C>T (p.Val660=)
NM_007294.4(BRCA1):c.198T>C (p.Asn66=) rs878854936
NM_007294.4(BRCA1):c.2022T>G (p.Pro674=) rs771519405
NM_007294.4(BRCA1):c.2025A>C (p.Ala675=) rs2154403291
NM_007294.4(BRCA1):c.2083G>A (p.Asp695Asn) rs28897681
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr) rs28897681
NM_007294.4(BRCA1):c.212+17T>C rs369461674
NM_007294.4(BRCA1):c.2130T>G (p.Thr710=) rs273898678
NM_007294.4(BRCA1):c.219A>G (p.Leu73=) rs876659123
NM_007294.4(BRCA1):c.2232T>G (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.231G>A (p.Thr77=) rs80356847
NM_007294.4(BRCA1):c.2340G>A (p.Gln780=) rs1555589856
NM_007294.4(BRCA1):c.235T>G (p.Phe79Val) rs1597898362
NM_007294.4(BRCA1):c.2412G>A (p.Gln804=) rs55746541
NM_007294.4(BRCA1):c.243A>G (p.Gln81=) rs863224418
NM_007294.4(BRCA1):c.255G>A (p.Glu85=) rs756499058
NM_007294.4(BRCA1):c.2562T>C (p.Ala854=) rs1182712531
NM_007294.4(BRCA1):c.2569T>C (p.Leu857=) rs779895958
NM_007294.4(BRCA1):c.258A>G (p.Leu86=) rs777491912
NM_007294.4(BRCA1):c.2592A>C (p.Ser864=)
NM_007294.4(BRCA1):c.2668G>A (p.Gly890Arg) rs80357200
NM_007294.4(BRCA1):c.2670G>A (p.Gly890=)
NM_007294.4(BRCA1):c.2742G>A (p.Glu914=) rs961042365
NM_007294.4(BRCA1):c.2745T>G (p.Ser915=) rs876658748
NM_007294.4(BRCA1):c.2814A>C (p.Pro938=) rs80356851
NM_007294.4(BRCA1):c.282G>T (p.Gln94His) rs1597898117
NM_007294.4(BRCA1):c.2895C>A (p.Leu965=) rs1555588774
NM_007294.4(BRCA1):c.2910A>G (p.Lys970=) rs431825394
NM_007294.4(BRCA1):c.2913T>C (p.His971=) rs786203804
NM_007294.4(BRCA1):c.2964A>G (p.Ser988=) rs1064796061
NM_007294.4(BRCA1):c.2998G>A (p.Glu1000Lys) rs80357124
NM_007294.4(BRCA1):c.3003A>G (p.Glu1001=) rs774644946
NM_007294.4(BRCA1):c.3018T>C (p.His1006=) rs1567793232
NM_007294.4(BRCA1):c.3105T>G (p.Val1035=) rs1452354450
NM_007294.4(BRCA1):c.3213A>G (p.Glu1071=) rs528254652
NM_007294.4(BRCA1):c.3267G>A (p.Leu1089=) rs767544239
NM_007294.4(BRCA1):c.3270A>G (p.Gln1090=) rs369925993
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.3372C>T (p.Phe1124=) rs786203431
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del) rs80358337
NM_007294.4(BRCA1):c.3465T>C (p.Asp1155=) rs1567791539
NM_007294.4(BRCA1):c.3519T>C (p.Ser1173=) rs1597863152
NM_007294.4(BRCA1):c.3636A>T (p.Ser1212=) rs148038877
NM_007294.4(BRCA1):c.3660T>C (p.Asp1220=) rs1365746397
NM_007294.4(BRCA1):c.3708T>C (p.Asn1236=) rs28897687
NM_007294.4(BRCA1):c.3735C>T (p.Ser1245=) rs1567790391
NM_007294.4(BRCA1):c.3747C>G (p.Thr1249=) rs587780801
NM_007294.4(BRCA1):c.3792G>A (p.Lys1264=) rs894781955
NM_007294.4(BRCA1):c.3807C>T (p.Asp1269=) rs786202569
NM_007294.4(BRCA1):c.389A>T (p.Tyr130Phe) rs56055578
NM_007294.4(BRCA1):c.3914A>T (p.Asp1305Val) rs431825402
NM_007294.4(BRCA1):c.3945T>C (p.Pro1315=) rs2154275582
NM_007294.4(BRCA1):c.3975G>A (p.Arg1325=) rs761424661
NM_007294.4(BRCA1):c.4026A>C (p.Ser1342=) rs80356828
NM_007294.4(BRCA1):c.4074G>A (p.Glu1358=) rs80356846
NM_007294.4(BRCA1):c.4096+15T>C rs1567788912
NM_007294.4(BRCA1):c.4119G>A (p.Glu1373=) rs2154256792
NM_007294.4(BRCA1):c.4179C>T (p.Thr1393=) rs753735698
NM_007294.4(BRCA1):c.4185+10G>T
NM_007294.4(BRCA1):c.4185+16G>A rs774646943
NM_007294.4(BRCA1):c.4197C>G (p.Thr1399=) rs876659552
NM_007294.4(BRCA1):c.4230A>G (p.Glu1410=) rs1555584217
NM_007294.4(BRCA1):c.423A>G (p.Glu141=) rs777102216
NM_007294.4(BRCA1):c.4255G>C (p.Glu1419Gln) rs80357309
NM_007294.4(BRCA1):c.4269C>T (p.Ser1423=) rs786202278
NM_007294.4(BRCA1):c.426C>T (p.Pro142=) rs542687218
NM_007294.4(BRCA1):c.42C>T (p.Val14=) rs80356827
NM_007294.4(BRCA1):c.4317T>C (p.Leu1439=) rs2154148532
NM_007294.4(BRCA1):c.4503C>T (p.Cys1501=) rs747539984
NM_007294.4(BRCA1):c.4521G>A (p.Arg1507=) rs1435385135
NM_007294.4(BRCA1):c.4527C>T (p.Tyr1509=) rs886040233
NM_007294.4(BRCA1):c.459T>C (p.Ser153=) rs1555594962
NM_007294.4(BRCA1):c.4614G>A (p.Gln1538=) rs1555581876
NM_007294.4(BRCA1):c.4671T>C (p.Asp1557=) rs1597835696
NM_007294.4(BRCA1):c.4683C>T (p.Thr1561=) rs878853265
NM_007294.4(BRCA1):c.4713C>T (p.Phe1571=) rs768945711
NM_007294.4(BRCA1):c.4716T>G (p.Ser1572=) rs2052422336
NM_007294.4(BRCA1):c.4731T>A (p.Ser1577=) rs1555581028
NM_007294.4(BRCA1):c.4733A>G (p.Asp1578Gly) rs80356930
NM_007294.4(BRCA1):c.4797A>G (p.Ala1599=) rs749609930
NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys) rs1799966
NM_007294.4(BRCA1):c.4854T>C (p.His1618=) rs750718476
NM_007294.4(BRCA1):c.4860T>C (p.Thr1620=) rs750938749
NM_007294.4(BRCA1):c.4881A>G (p.Ala1627=) rs1425743425
NM_007294.4(BRCA1):c.4897A>G (p.Ser1633Gly) rs1555580711
NM_007294.4(BRCA1):c.4941C>A (p.Asn1647Lys) rs80357302
NM_007294.4(BRCA1):c.4959G>A (p.Val1653=) rs878854955
NM_007294.4(BRCA1):c.4971G>A (p.Leu1657=) rs786202058
NM_007294.4(BRCA1):c.4992C>A (p.Leu1664=) rs142459158
NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=) rs55770810
NM_007294.4(BRCA1):c.5097G>A (p.Arg1699=) rs2051927969
NM_007294.4(BRCA1):c.5153-11G>T rs1057521674
NM_007294.4(BRCA1):c.5153-8C>A rs1060504570
NM_007294.4(BRCA1):c.5175A>C (p.Glu1725Asp) rs191373374
NM_007294.4(BRCA1):c.5196T>C (p.His1732=) rs1567764670
NM_007294.4(BRCA1):c.5220G>A (p.Val1740=) rs2153389068
NM_007294.4(BRCA1):c.5259A>G (p.Arg1753=) rs771577266
NM_007294.4(BRCA1):c.525G>A (p.Lys175=) rs1555594837
NM_007294.4(BRCA1):c.5280C>A (p.Ile1760=) rs750040616
NM_007294.4(BRCA1):c.5376G>A (p.Val1792=) rs1060504569
NM_007294.4(BRCA1):c.5388A>G (p.Ser1796=) rs373810778
NM_007294.4(BRCA1):c.5406A>C (p.Thr1802=) rs879255493
NM_007294.4(BRCA1):c.5468-10C>T rs8176316
NM_007294.4(BRCA1):c.5468-10_5468-9del rs273902770
NM_007294.4(BRCA1):c.548-11A>G
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=) rs80356849
NM_007294.4(BRCA1):c.594-12T>G rs1555593633
NM_007294.4(BRCA1):c.594-20A>G rs80358017
NM_007294.4(BRCA1):c.600A>G (p.Gly200=) rs1555593617
NM_007294.4(BRCA1):c.60A>G (p.Lys20=) rs202168814
NM_007294.4(BRCA1):c.630A>G (p.Gln210=) rs1555593567
NM_007294.4(BRCA1):c.671-18_671-16del rs398122354
NM_007294.4(BRCA1):c.736T>C (p.Leu246=) rs28897675
NM_007294.4(BRCA1):c.756T>C (p.Arg252=) rs786201338
NM_007294.4(BRCA1):c.81-12dup rs273902789
NM_007294.4(BRCA1):c.819A>G (p.Pro273=) rs779225364
NM_007294.4(BRCA1):c.945G>A (p.Arg315=) rs1555592789
NM_007294.4(BRCA1):c.951A>G (p.Gln317=) rs759419385
NM_007294.4(BRCA1):c.964G>C (p.Ala322Pro) rs80357252
NM_007294.4(BRCA1):c.969A>T (p.Gly323=) rs45586033
NM_007294.4(BRCA1):c.990T>C (p.Asp330=) rs978690648
NM_007327.4(GRIN1):c.555G>A (p.Glu185=)
NM_007327.4(GRIN1):c.570+16G>A rs201978748
NM_007363.5(NONO):c.1176T>G (p.Ala392=)
NM_007373.4(SHOC2):c.1335A>G (p.Gly445=)
NM_007373.4(SHOC2):c.1481C>A (p.Thr494Asn) rs758241851
NM_007373.4(SHOC2):c.567T>C (p.Tyr189=) rs1847644303
NM_007373.4(SHOC2):c.96A>T (p.Gly32=) rs1847633735
NM_012096.3(APPL1):c.863+19T>C
NM_012154.5(AGO2):c.1371C>T (p.Ala457=)
NM_012186.3(FOXE3):c.582G>A (p.Ala194=)
NM_012216.4(MID2):c.2190G>A (p.Gly730=)
NM_012310.5(KIF4A):c.2841G>A (p.Gln947=)
NM_012448.4(STAT5B):c.834-18C>T
NM_013266.4(CTNNA3):c.660A>G (p.Ser220=)
NM_013275.6(ANKRD11):c.5646C>G (p.Val1882=)
NM_013975.4(LIG3):c.123A>G (p.Thr41=)
NM_013975.4(LIG3):c.1857C>T (p.Asp619=)
NM_013975.4(LIG3):c.2727C>G (p.Ala909=)
NM_013975.4(LIG3):c.2931C>T (p.His977=)
NM_013975.4(LIG3):c.74G>A (p.Arg25Gln)
NM_014000.3(VCL):c.120C>A (p.Leu40=)
NM_014000.3(VCL):c.120C>T (p.Leu40=) rs144080529
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014225.6(PPP2R1A):c.687G>C (p.Val229=)
NM_014225.6(PPP2R1A):c.78+76_78+77del
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=) rs41285549
NM_014244.5(ADAMTS2):c.672A>G (p.Pro224=) rs1386741882
NM_014252.4(SLC25A15):c.623-6C>T rs1270950524
NM_014391.3(ANKRD1):c.196C>G (p.Arg66Gly) rs397517249
NM_014391.3(ANKRD1):c.346-19_346-15delinsA
NM_014391.3(ANKRD1):c.346-21ATTT[2] rs397517250
NM_014491.4(FOXP2):c.1701T>C (p.Asn567=)
NM_014712.3(SETD1A):c.1769G>A (p.Arg590Gln)
NM_014712.3(SETD1A):c.2493G>A (p.Glu831=)
NM_014712.3(SETD1A):c.4693-13T>C
NM_014727.3(KMT2B):c.4498-11C>A
NM_014846.4(WASHC5):c.1695A>G (p.Thr565=) rs2130097605
NM_014846.4(WASHC5):c.3182-16A>G
NM_014875.3(KIF14):c.1115A>G (p.Glu372Gly) rs766030658
NM_014908.4(DOLK):c.1286A>G (p.Lys429Arg) rs574562542
NM_014908.4(DOLK):c.966G>C (p.Arg322=)
NM_015021.3(ZNF292):c.5520T>C (p.Ile1840=)
NM_015047.3(EMC1):c.2964G>C (p.Leu988=)
NM_015076.5(CDK19):c.129-19T>C
NM_015100.4(POGZ):c.39G>A (p.Glu13=)
NM_015175.3(NBEAL2):c.7208G>T (p.Gly2403Val)
NM_015175.3(NBEAL2):c.7329C>T (p.Ser2443=) rs1426292577
NM_015215.4(CAMTA1):c.3658+13A>G
NM_015330.6(SPECC1L):c.1149G>T (p.Gly383=)
NM_015338.6(ASXL1):c.3677T>A (p.Leu1226Gln)
NM_015346.4(ZFYVE26):c.887-13G>A
NM_015354.3(NUP188):c.2640+19C>A
NM_015443.4(KANSL1):c.3063C>T (p.Ser1021=)
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu) rs74365027
NM_015559.3(SETBP1):c.1872G>A (p.Lys624=)
NM_015559.3(SETBP1):c.3147A>T (p.Ala1049=)
NM_015559.3(SETBP1):c.3565C>A (p.Arg1189=) rs1380272330
NM_015570.4(AUTS2):c.2820G>A (p.Pro940=)
NM_015599.3(PGM3):c.468G>T (p.Leu156Phe) rs62419258
NM_015627.3(LDLRAP1):c.360A>G (p.Thr120=)
NM_015627.3(LDLRAP1):c.604_605delinsCA (p.Ser202His) rs386629678
NM_015627.3(LDLRAP1):c.89-16C>T
NM_015726.4(DCAF8):c.1561-12T>C
NM_015922.3(NSDHL):c.891C>T (p.Tyr297=)
NM_015981.4(CAMK2A):c.1142+17C>A
NM_016030.6(TRAPPC12):c.1759G>A (p.Gly587Ser) rs111556571
NM_016188.5(ACTL6B):c.993C>T (p.Gly331=)
NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala) rs199963585
NM_016333.4(SRRM2):c.8250-12C>G
NM_016363.5(GP6):c.325+17C>T
NM_016363.5(GP6):c.60G>A (p.Ala20=)
NM_016363.5(GP6):c.664+12A>G
NM_016363.5(GP6):c.67+15A>C
NM_016628.5(WAC):c.879A>C (p.Thr293=)
NM_016938.5(EFEMP2):c.160+17G>A
NM_016938.5(EFEMP2):c.258C>T (p.Ala86=) rs143873931
NM_016938.5(EFEMP2):c.348C>T (p.Asp116=) rs376350227
NM_017617.5(NOTCH1):c.1904-20G>C
NM_017617.5(NOTCH1):c.2049G>C (p.Ala683=)
NM_017617.5(NOTCH1):c.2354-16G>C
NM_017617.5(NOTCH1):c.2558_2560del (p.Phe853del) rs779164170
NM_017617.5(NOTCH1):c.2626A>G (p.Ser876Gly)
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met) rs201215245
NM_017617.5(NOTCH1):c.483C>T (p.Ser161=)
NM_017617.5(NOTCH1):c.6135T>C (p.Val2045=) rs920077656
NM_017617.5(NOTCH1):c.6153G>A (p.Gly2051=) rs1554826678
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg) rs116317506
NM_017617.5(NOTCH1):c.7326C>T (p.Asp2442=)
NM_017617.5(NOTCH1):c.7575G>C (p.Pro2525=) rs375576856
NM_017617.5(NOTCH1):c.7641C>A (p.Ile2547=) rs370124241
NM_017636.4(TRPM4):c.1356C>T (p.Gly452=)
NM_017636.4(TRPM4):c.2283_2294del (p.759_762CGGR[1]) rs113100797
NM_017636.4(TRPM4):c.3132-20T>C
NM_017849.4(TMEM127):c.291C>T (p.Ala97=) rs546105756
NM_018063.5(HELLS):c.453T>A (p.Ala151=)
NM_018263.6(ASXL2):c.632-19A>C
NM_018297.4(NGLY1):c.643A>G (p.Arg215Gly) rs551759932
NM_018706.7(DHTKD1):c.2659-17C>G
NM_018706.7(DHTKD1):c.718-13G>A
NM_018896.5(CACNA1G):c.6033A>C (p.Thr2011=)
NM_018896.5(CACNA1G):c.6234C>T (p.Ser2078=)
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1]) rs746549330
NM_020066.5(FMN2):c.1284G>T (p.Ser428=)
NM_020297.4(ABCC9):c.1619-20C>A rs1357942810
NM_020297.4(ABCC9):c.1629T>C (p.Asn543=)
NM_020297.4(ABCC9):c.3063G>A (p.Glu1021=) rs1555187269
NM_020297.4(ABCC9):c.771A>C (p.Ala257=)
NM_020433.5(JPH2):c.471G>A (p.Ser157=)
NM_020436.5(SALL4):c.1003C>T (p.Leu335Phe)
NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=) rs867638588
NM_020647.4(JPH1):c.1710C>T (p.Gly570=)
NM_020708.5(SLC12A5):c.2719T>C (p.Leu907=)
NM_020738.4(KIDINS220):c.999+17T>C
NM_020745.4(AARS2):c.93A>T (p.Ser31=)
NM_020778.5(ALPK3):c.1233G>A (p.Val411=)
NM_020778.5(ALPK3):c.144-16T>C
NM_020778.5(ALPK3):c.1845G>A (p.Lys615=)
NM_020821.3(VPS13C):c.2856C>T (p.Asp952=) rs749454574
NM_020821.3(VPS13C):c.8988A>G (p.Pro2996=)
NM_020832.3(ZNF687):c.3525G>A (p.Gly1175=)
NM_020928.2(ZSWIM6):c.2592C>T (p.His864=)
NM_020971.3(SPTBN4):c.4032C>T (p.Leu1344=)
NM_020975.6(RET):c.1353G>A (p.Thr451=) rs201568301
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu) rs768132465
NM_020987.5(ANK3):c.4575A>G (p.Ser1525=)
NM_021005.4(NR2F2):c.1200A>G (p.Leu400=)
NM_021120.4(DLG3):c.841-10C>T
NM_021813.4(BACH2):c.2505G>A (p.Gln835=)
NM_021815.5(SLC5A7):c.1170A>G (p.Ala390=)
NM_021830.5(TWNK):c.309C>T (p.Phe103=)
NM_022081.6(HPS4):c.1955+18G>C rs149340443
NM_022081.6(HPS4):c.670-15T>C
NM_022114.4(PRDM16):c.2468G>C (p.Arg823Pro) rs371654192
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022436.3(ABCG5):c.1329C>T (p.Pro443=)
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe) rs72542426
NM_022436.3(ABCG5):c.1452T>C (p.Ser484=)
NM_022436.3(ABCG5):c.1758T>C (p.Thr586=)
NM_022436.3(ABCG5):c.501+11dup rs200655485
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys) rs4148217
NM_022437.3(ABCG8):c.1227C>T (p.Asn409=)
NM_022437.3(ABCG8):c.1347C>T (p.Ala449=)
NM_022437.3(ABCG8):c.576C>A (p.Ile192=) rs148058949
NM_022437.3(ABCG8):c.594G>A (p.Arg198=)
NM_022437.3(ABCG8):c.918C>T (p.Ala306=)
NM_022552.5(DNMT3A):c.448+48C>A
NM_023110.3(FGFR1):c.945A>G (p.Gly315=)
NM_024301.5(FKRP):c.1353C>T (p.Pro451=)
NM_024408.4(NOTCH2):c.6156T>C (p.Asp2052=)
NM_024422.6(DSC2):c.2058C>T (p.Gly686=) rs1177700048
NM_024422.6(DSC2):c.2286C>T (p.Gly762=) rs549251334
NM_024422.6(DSC2):c.369A>G (p.Arg123=)
NM_024422.6(DSC2):c.936C>T (p.Asp312=) rs1431388251
NM_024422.6(DSC2):c.942+16A>T rs111347888
NM_024426.6(WT1):c.402G>A (p.Pro134=) rs777527675
NM_024537.4(CARS2):c.354T>C (p.Ile118=)
NM_024665.7(TBL1XR1):c.1251-19T>C
NM_024675.4(PALB2):c.1093A>C (p.Arg365=) rs773001248
NM_024675.4(PALB2):c.1137G>A (p.Lys379=) rs1060504712
NM_024675.4(PALB2):c.1227T>C (p.Tyr409=) rs1555461386
NM_024675.4(PALB2):c.1758T>C (p.Asp586=) rs864622567
NM_024675.4(PALB2):c.1815T>C (p.Ser605=) rs1597091095
NM_024675.4(PALB2):c.1821C>T (p.Leu607=) rs1555460634
NM_024675.4(PALB2):c.1830A>G (p.Thr610=) rs876659484
NM_024675.4(PALB2):c.1857T>C (p.Phe619=) rs1555460623
NM_024675.4(PALB2):c.1920A>T (p.Ser640=) rs375575311
NM_024675.4(PALB2):c.2130G>A (p.Thr710=) rs774049060
NM_024675.4(PALB2):c.2469C>G (p.Leu823=) rs515726087
NM_024675.4(PALB2):c.2481A>T (p.Thr827=) rs876658885
NM_024675.4(PALB2):c.2607C>A (p.Ser869=) rs45542234
NM_024675.4(PALB2):c.2616G>T (p.Val872=) rs1567215519
NM_024675.4(PALB2):c.2715G>A (p.Gln905=) rs1555459937
NM_024675.4(PALB2):c.276T>G (p.Thr92=) rs1555461850
NM_024675.4(PALB2):c.2964A>G (p.Gln988=) rs777244673
NM_024675.4(PALB2):c.2967A>G (p.Val989=) rs1966799199
NM_024675.4(PALB2):c.2994A>G (p.Gly998=) rs2142334227
NM_024675.4(PALB2):c.3225T>C (p.Ser1075=)
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met) rs201657283
NM_024675.4(PALB2):c.525A>G (p.Arg175=) rs1555461747
NM_024685.4(BBS10):c.1158G>A (p.Leu386=) rs138702315
NM_025074.7(FRAS1):c.11274C>A (p.His3758Gln)
NM_025077.4(TOE1):c.-43C>A rs766584437
NM_025114.4(CEP290):c.5364+14C>T
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser) rs75309308
NM_030624.3(KLHL15):c.1182T>C (p.Tyr394=)
NM_030662.4(MAP2K2):c.1080G>A (p.Leu360=) rs2040885847
NM_030662.4(MAP2K2):c.42C>T (p.Ile14=) rs1057522557
NM_030662.4(MAP2K2):c.750C>T (p.Ile250=) rs2040968148
NM_030662.4(MAP2K2):c.813C>G (p.Asp271Glu) rs201726622
NM_030662.4(MAP2K2):c.847G>A (p.Val283Met) rs185999703
NM_030662.4(MAP2K2):c.860AAG[1] (p.Glu288del) rs763469132
NM_030662.4(MAP2K2):c.985-14G>C
NM_030777.4(SLC2A10):c.1513T>C (p.Leu505=)
NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser) rs6094438
NM_030777.4(SLC2A10):c.546C>T (p.Leu182=)
NM_030777.4(SLC2A10):c.918C>T (p.Leu306=) rs1979909437
NM_030787.4(CFHR5):c.1331-16A>G
NM_030928.4(CDT1):c.1635G>A (p.Gly545=)
NM_030948.6(PHACTR1):c.497-19C>G
NM_030948.6(PHACTR1):c.564G>A (p.Gln188=)
NM_031407.7(HUWE1):c.2971+19A>T rs2148634889
NM_031407.7(HUWE1):c.4461+19A>G
NM_031407.7(HUWE1):c.8727A>G (p.Glu2909=)
NM_031443.4(CCM2):c.746-17C>T
NM_031448.6(C19orf12):c.165G>A (p.Gly55=) rs201194487
NM_032043.3(BRIP1):c.1149A>G (p.Leu383=) rs1567829755
NM_032043.3(BRIP1):c.1315C>A (p.Arg439=) rs587780226
NM_032043.3(BRIP1):c.1368T>C (p.Leu456=) rs878855138
NM_032043.3(BRIP1):c.1371A>G (p.Val457=) rs935612010
NM_032043.3(BRIP1):c.1383T>C (p.Tyr461=) rs587780875
NM_032043.3(BRIP1):c.1485T>G (p.Ser495=) rs370658123
NM_032043.3(BRIP1):c.1659A>G (p.Gln553=) rs876660693
NM_032043.3(BRIP1):c.1953T>C (p.Ile651=) rs754400631
NM_032043.3(BRIP1):c.2223G>T (p.Val741=) rs1057522996
NM_032043.3(BRIP1):c.2322C>T (p.Asp774=) rs1057520434
NM_032043.3(BRIP1):c.2409C>T (p.His803=) rs762039913
NM_032043.3(BRIP1):c.2433A>G (p.Leu811=) rs751455420
NM_032043.3(BRIP1):c.2469G>A (p.Arg823=) rs587780239
NM_032043.3(BRIP1):c.288A>G (p.Thr96=) rs1278121295
NM_032043.3(BRIP1):c.2907T>C (p.Asn969=) rs1555572999
NM_032043.3(BRIP1):c.2991A>G (p.Thr997=) rs45466996
NM_032043.3(BRIP1):c.3009A>G (p.Ser1003=) rs751823379
NM_032043.3(BRIP1):c.3072G>A (p.Gly1024=) rs778500245
NM_032043.3(BRIP1):c.3387T>C (p.Ser1129=)
NM_032043.3(BRIP1):c.3402T>G (p.Pro1134=) rs2061308538
NM_032043.3(BRIP1):c.342A>G (p.Pro114=) rs756764576
NM_032043.3(BRIP1):c.3552A>G (p.Glu1184=) rs1057522561
NM_032043.3(BRIP1):c.387T>C (p.Pro129=) rs779324498
NM_032043.3(BRIP1):c.618G>T (p.Ser206=) rs367614726
NM_032043.3(BRIP1):c.636C>A (p.Gly212=) rs1057520255
NM_032043.3(BRIP1):c.768T>C (p.Ile256=) rs1452578169
NM_032043.3(BRIP1):c.786G>A (p.Glu262=) rs876658312
NM_032119.4(ADGRV1):c.13668A>G (p.Thr4556=) rs758546069
NM_032217.5(ANKRD17):c.5328-12dup
NM_032217.5(ANKRD17):c.7408+15C>T
NM_032383.5(HPS3):c.887G>A (p.Arg296His)
NM_032496.4(ARHGAP9):c.1116+13G>C
NM_032578.4(MYPN):c.2703+17_2703+18delinsCG rs2134205089
NM_032588.4(TRIM63):c.1052-21_1052-20del rs768795582
NM_032588.4(TRIM63):c.72T>C (p.Pro24=)
NM_032588.4(TRIM63):c.951C>T (p.Asp317=)
NM_032588.4(TRIM63):c.980-16T>C
NM_032620.4(GTPBP3):c.388+11G>T
NM_032892.5(FRMD5):c.793-18_793-9del
NM_033118.4(MYLK2):c.435C>T (p.Ala145=)
NM_033337.3(CAV3):c.72G>A (p.Leu24=)
NM_033380.3(COL4A5):c.1608T>A (p.Gly536=)
NM_033380.3(COL4A5):c.2917+17A>G
NM_033380.3(COL4A5):c.3604+19T>A
NM_033380.3(COL4A5):c.4092T>C (p.Pro1364=)
NM_033380.3(COL4A5):c.465+12A>T
NM_033504.4(TMEM54):c.636_649del (p.Leu212_Ser213insTer)
NM_033629.6(TREX1):c.633A>G (p.Arg211=)
NM_052876.4(NACC1):c.1560T>A (p.Gly520=)
NM_053025.4(MYLK):c.1179TGT[1] (p.Val395del) rs771815695
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.4(MYLK):c.2462+20G>A rs565230903
NM_053025.4(MYLK):c.2829G>A (p.Arg943=)
NM_053025.4(MYLK):c.3193GAA[1] (p.Glu1066del) rs75967604
NM_053025.4(MYLK):c.4644G>A (p.Glu1548=)
NM_053025.4(MYLK):c.5697G>A (p.Val1899=) rs2107807094
NM_053031.4(MYLK):c.89-2_89del rs749876595
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_058216.3(RAD51C):c.225T>C (p.Tyr75=) rs1555593553
NM_058216.3(RAD51C):c.237T>C (p.Ser79=) rs1555593575
NM_058216.3(RAD51C):c.319C>T (p.Leu107=) rs752817595
NM_058216.3(RAD51C):c.396A>C (p.Thr132=) rs766221834
NM_058216.3(RAD51C):c.577C>A (p.Arg193=) rs200293302
NM_058216.3(RAD51C):c.711A>T (p.Arg237=)
NM_058216.3(RAD51C):c.780G>A (p.Arg260=) rs1460932618
NM_058216.3(RAD51C):c.900A>G (p.Ala300=) rs776711046
NM_078480.3(PUF60):c.66G>A (p.Ala22=)
NM_080911.3(UNG):c.732G>A (p.Gln244=) rs193922715
NM_130466.4(UBE3B):c.631-475G>A
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_130837.3(OPA1):c.2250C>T (p.Asp750=)
NM_130837.3(OPA1):c.581T>C (p.Ile194Thr)
NM_133259.4(LRPPRC):c.7G>T (p.Ala3Ser) rs200686732
NM_133433.4(NIPBL):c.5796C>T (p.Asn1932=)
NM_134261.3(RORA):c.57C>A (p.Gly19=)
NM_138383.3(MTSS2):c.1129-16C>A
NM_138501.6(TECR):c.384-15G>A
NM_138576.4(BCL11B):c.123A>G (p.Pro41=)
NM_138694.4(PKHD1):c.10230A>G (p.Gln3410=) rs1349645712
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=) rs372394177
NM_138694.4(PKHD1):c.11040C>T (p.Ser3680=) rs1772372632
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=) rs9474136
NM_138694.4(PKHD1):c.7734-27_7734-26dup rs201176305
NM_138927.4(SON):c.1074G>T (p.Pro358=)
NM_138927.4(SON):c.4839A>G (p.Glu1613=)
NM_138927.4(SON):c.498G>A (p.Ala166=)
NM_139027.6(ADAMTS13):c.2234+17C>A
NM_139027.6(ADAMTS13):c.373C>A (p.Arg125=)
NM_139027.6(ADAMTS13):c.627C>G (p.Leu209=)
NM_139076.3(ABRAXAS1):c.1206A>G (p.Glu402=) rs1553936008
NM_139076.3(ABRAXAS1):c.33G>T (p.Ser11=) rs368088450
NM_139076.3(ABRAXAS1):c.364C>G (p.Gln122Glu) rs137876115
NM_139076.3(ABRAXAS1):c.699G>A (p.Val233=) rs1187186600
NM_139076.3(ABRAXAS1):c.826_828del (p.Glu276del) rs748475674
NM_139076.3(ABRAXAS1):c.894T>A (p.Val298=) rs1560570842
NM_144670.6(A2ML1):c.137G>A (p.Gly46Glu) rs757200771
NM_144670.6(A2ML1):c.1662C>T (p.Val554=)
NM_144670.6(A2ML1):c.1775G>A (p.Arg592Gln) rs200673370
NM_144670.6(A2ML1):c.1992G>A (p.Ser664=) rs765976469
NM_144670.6(A2ML1):c.3294T>G (p.Thr1098=) rs764429289
NM_144670.6(A2ML1):c.3346A>G (p.Met1116Val) rs79889829
NM_144670.6(A2ML1):c.3393G>A (p.Thr1131=)
NM_144670.6(A2ML1):c.3447A>G (p.Glu1149=)
NM_144670.6(A2ML1):c.3462C>T (p.Asn1154=)
NM_144670.6(A2ML1):c.540T>C (p.Ile180=) rs377551636
NM_144670.6(A2ML1):c.619G>T (p.Gly207Cys) rs11047499
NM_144670.6(A2ML1):c.888G>A (p.Val296=)
NM_144670.6(A2ML1):c.921G>C (p.Ala307=) rs372520121
NM_144687.4(NLRP12):c.2046A>G (p.Ala682=) rs886054608
NM_145261.4(DNAJC19):c.192A>G (p.Ala64=) rs1473896211
NM_145886.4(PIDD1):c.1303-13_1303-12insTC
NM_145886.4(PIDD1):c.2289C>T (p.Ser763=)
NM_145886.4(PIDD1):c.2474+18C>G
NM_145886.4(PIDD1):c.2475-19G>A
NM_152419.3(HGSNAT):c.-8_9dup (p.Ala4delinsArgArgAlaTer) rs1215061130
NM_152564.5(VPS13B):c.9332A>T (p.Tyr3111Phe) rs199704158
NM_152594.3(SPRED1):c.1225_1226delinsTT (p.Ala409Phe)
NM_152594.3(SPRED1):c.1299T>C (p.Cys433=) rs2141016779
NM_152594.3(SPRED1):c.999T>C (p.Ser333=)
NM_152703.5(SAMD9L):c.1524A>G (p.Thr508=) rs1248188387
NM_153717.3(EVC):c.1098+12G>C
NM_170606.3(KMT2C):c.11341T>C (p.Leu3781=)
NM_170606.3(KMT2C):c.14343+9A>G
NM_170606.3(KMT2C):c.14410A>G (p.Ile4804Val)
NM_170606.3(KMT2C):c.1458T>C (p.Asn486=)
NM_170606.3(KMT2C):c.3324-19A>C
NM_170606.3(KMT2C):c.5580C>T (p.Ser1860=)
NM_170665.4(ATP2A2):c.1910G>A (p.Arg637His)
NM_170682.4(P2RX2):c.1295C>G (p.Ala432Gly)
NM_170682.4(P2RX2):c.309+11C>T
NM_170707.4(LMNA):c.1534C>T (p.Leu512=) rs2102895384
NM_170707.4(LMNA):c.72C>T (p.Thr24=) rs1572331957
NM_170707.4(LMNA):c.927C>A (p.Leu309=) rs752558753
NM_172107.4(KCNQ2):c.1086C>T (p.Tyr362=)
NM_172351.3(CD46):c.943+15T>G
NM_172362.3(KCNH1):c.2942C>G (p.Ser981Ter) rs145248227
NM_173076.3(ABCA12):c.1462C>T (p.Leu488=) rs574023538
NM_173354.5(SIK1):c.499+10_499+11delinsCC rs2146474030
NM_173354.5(SIK1):c.625-16C>T
NM_173602.3(DIP2B):c.2643G>C (p.Val881=)
NM_173630.4(RTTN):c.3714A>G (p.Gln1238=)
NM_173653.4(SLC9A9):c.533+19T>G
NM_173660.5(DOK7):c.501C>T (p.Phe167=) rs1374098055
NM_173791.5(PDZD8):c.1362A>G (p.Gln454=)
NM_174934.4(SCN4B):c.480C>G (p.Asn160Lys) rs72546675
NM_174936.4(PCSK9):c.1099G>C (p.Asp367His) rs141867978
NM_174936.4(PCSK9):c.1212G>C (p.Pro404=) rs777470856
NM_174936.4(PCSK9):c.1268T>C (p.Val423Ala) rs555751342
NM_174936.4(PCSK9):c.1332G>A (p.Leu444=) rs886046433
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
NM_174936.4(PCSK9):c.240G>A (p.Val80=) rs2100266566
NM_174936.4(PCSK9):c.266C>G (p.Ser89Trp) rs771978846
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup) rs35574083
NM_174936.4(PCSK9):c.45GCT[5] (p.Leu22_Leu23del) rs35574083
NM_174936.4(PCSK9):c.580C>A (p.Arg194=) rs200027662
NM_175914.5(HNF4A):c.111G>T (p.Leu37=) rs2063496608
NM_181507.2(HPS5):c.1533G>A (p.Val511=)
NM_181552.4(CUX1):c.4224G>T (p.Ala1408=)
NM_182641.4(BPTF):c.2481G>A (p.Leu827=)
NM_182943.3(PLOD2):c.1005+15A>G
NM_182961.4(SYNE1):c.10883A>G (p.Gln3628Arg)
NM_182961.4(SYNE1):c.18435C>A (p.Val6145=)
NM_182961.4(SYNE1):c.9147-15_9147-13delinsTCA
NM_183357.3(ADCY5):c.982G>A (p.Gly328Ser) rs749154761
NM_198391.3(FLRT3):c.741A>T (p.Thr247=)
NM_198503.5(KCNT2):c.1884C>T (p.Ser628=)
NM_198994.3(TGM6):c.1134C>T (p.Arg378=)
NM_198994.3(TGM6):c.732C>T (p.Gly244=)
NM_198994.3(TGM6):c.999T>C (p.His333=)
NM_199242.3(UNC13D):c.1447-14C>T
NM_201596.3(CACNB2):c.1670C>G (p.Ser557Trp) rs137886839
NM_201596.3(CACNB2):c.1688G>A (p.Arg563Gln) rs766377211
NM_201596.3(CACNB2):c.1702G>A (p.Val568Ile) rs142639223
NM_201596.3(CACNB2):c.1817G>C (p.Arg606Pro) rs577739840
NM_203395.3(IYD):c.371-13G>T
NM_203447.4(DOCK8):c.53+14del rs749863710
NM_205836.3(FBXO38):c.3388+11C>T
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val) rs35309576
NM_213622.4(STAMBP):c.891C>T (p.Thr297=) rs150793338
NM_213655.5(WNK1):c.2829G>T (p.Gln943His)
NM_213720.3(CHCHD10):c.228G>C (p.Gly76=)
NM_213720.3(CHCHD10):c.261+10_261+11delinsAG
NR_003051.3(RMRP):n.-9T>G rs12552387

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