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
|
|