NM_004100.5(EYA4):c.829G>A (p.Gly277Ser)
|
rs9493627
|
0.37885
|
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)
|
rs34787999
|
0.25357
|
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)
|
rs1805124
|
0.24768
|
NM_004999.4(MYO6):c.2658+17C>T
|
rs2295936
|
0.22603
|
NM_001267550.2(TTN):c.8902+14del
|
rs573000455
|
0.16798
|
NM_001267550.2(TTN):c.8902+16del
|
rs570467105
|
0.16737
|
NM_000257.4(MYH7):c.5106G>A (p.Ala1702=)
|
rs3729830
|
0.14676
|
NM_004999.4(MYO6):c.553+11T>C
|
rs12210963
|
0.13246
|
NM_014000.3(VCL):c.*1854A>C
|
rs3829204
|
0.11656
|
NM_002834.3(PTPN11):c.-273G>A
|
rs58805176
|
0.10884
|
NM_014000.3(VCL):c.768T>C (p.Asp256=)
|
rs56413529
|
0.06776
|
NM_014000.3(VCL):c.339G>A (p.Arg113=)
|
rs56314318
|
0.06767
|
NM_170707.4(LMNA):c.810+13G>T
|
rs11264444
|
0.05317
|
NM_000371.4(TTR):c.76G>A (p.Gly26Ser)
|
rs1800458
|
0.05309
|
NM_014000.3(VCL):c.*1853A>C
|
rs554923257
|
0.04999
|
NM_001122630.2(CDKN1C):c.567A>G (p.Pro189=)
|
rs529326848
|
0.03671
|
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)
|
rs72546667
|
0.03558
|
NM_032578.4(MYPN):c.843A>G (p.Pro281=)
|
rs74143022
|
0.03534
|
NM_024334.3(TMEM43):c.163-14C>T
|
rs113745859
|
0.02553
|
NM_001232.4(CASQ2):c.731A>G (p.His244Arg)
|
rs28730716
|
0.02511
|
NM_001267550.2(TTN):c.26991A>G (p.Thr8997=)
|
rs61232800
|
0.02248
|
NM_000337.6(SGCD):c.*7596A>G
|
rs80115276
|
0.02244
|
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)
|
rs7626962
|
0.02208
|
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys)
|
rs16990264
|
0.02084
|
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe)
|
rs2230179
|
0.02069
|
NM_014908.4(DOLK):c.-49A>G
|
rs116439010
|
0.01852
|
NM_001267550.2(TTN):c.49648+16T>C
|
rs57677875
|
0.01831
|
NM_000182.5(HADHA):c.1620+11G>C
|
rs112236946
|
0.01807
|
NM_003476.5(CSRP3):c.312C>G (p.Thr104=)
|
rs45582433
|
0.01721
|
NM_002471.4(MYH6):c.3408G>A (p.Lys1136=)
|
rs28730770
|
0.01687
|
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=)
|
rs34905593
|
0.01683
|
NM_004006.3(DMD):c.832-17C>A
|
rs72470514
|
0.01678
|
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg)
|
rs34423165
|
0.01671
|
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=)
|
rs17082422
|
0.01643
|
NM_004006.3(DMD):c.5724T>C (p.Asp1908=)
|
rs143159113
|
0.01630
|
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys)
|
rs72647875
|
0.01559
|
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser)
|
rs77121899
|
0.01555
|
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=)
|
rs6725673
|
0.01548
|
NM_004168.4(SDHA):c.1664-8G>A
|
rs199790689
|
0.01533
|
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly)
|
rs56229512
|
0.01531
|
NM_020297.4(ABCC9):c.1848C>T (p.Asp616=)
|
rs61001398
|
0.01493
|
NM_001105206.3(LAMA4):c.531C>T (p.Pro177=)
|
rs61742228
|
0.01462
|
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val)
|
rs55948748
|
0.01336
|
NM_182914.3(SYNE2):c.8597C>T (p.Thr2866Met)
|
rs114508894
|
0.01330
|
NM_000257.4(MYH7):c.1767C>T (p.Asn589=)
|
rs3729816
|
0.01311
|
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser)
|
rs116758271
|
0.01300
|
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)
|
rs68080670
|
0.01276
|
NM_182914.3(SYNE2):c.9023T>C (p.Ile3008Thr)
|
rs115969845
|
0.01198
|
NM_001276345.2(TNNT2):c.42-20G>A
|
rs45561443
|
0.01192
|
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr)
|
rs41313691
|
0.01184
|
NM_001105206.3(LAMA4):c.4287+15C>T
|
rs116361180
|
0.01137
|
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu)
|
rs61733587
|
0.01098
|
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp)
|
rs113449357
|
0.01077
|
NM_002471.4(MYH6):c.2946G>A (p.Glu982=)
|
rs145274612
|
0.01048
|
NM_182961.4(SYNE1):c.402+11A>G
|
rs80276170
|
0.01033
|
NM_004006.3(DMD):c.6322C>T (p.Arg2108Cys)
|
rs16990169
|
0.00981
|
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys)
|
rs28763967
|
0.00925
|
NM_000018.4(ACADVL):c.623-8C>T
|
rs144996066
|
0.00919
|
NM_032578.4(MYPN):c.1245+20A>G
|
rs111634581
|
0.00919
|
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=)
|
rs139524103
|
0.00909
|
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)
|
rs78652302
|
0.00908
|
NM_032578.4(MYPN):c.-2+9C>T
|
rs75716608
|
0.00900
|
NM_000157.4(GBA1):c.762-18T>A
|
rs140335079
|
0.00896
|
NM_004100.5(EYA4):c.*2799C>A
|
rs143596676
|
0.00882
|
NM_001458.5(FLNC):c.2390-14C>T
|
rs71581921
|
0.00843
|
NM_024334.3(TMEM43):c.222C>T (p.Pro74=)
|
rs34099410
|
0.00841
|
NM_004333.6(BRAF):c.1315-18T>G
|
rs6959000
|
0.00840
|
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu)
|
rs115658240
|
0.00835
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
NM_000257.4(MYH7):c.4520-25C>T
|
rs45503601
|
0.00787
|
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=)
|
rs74321406
|
0.00774
|
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val)
|
rs3729952
|
0.00756
|
NM_004006.3(DMD):c.3603+8A>G
|
rs193249735
|
0.00743
|
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His)
|
rs61732664
|
0.00738
|
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg)
|
rs72648927
|
0.00729
|
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=)
|
rs111638554
|
0.00728
|
NM_012082.4(ZFPM2):c.40+12C>G
|
rs149902904
|
0.00711
|
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn)
|
rs34884895
|
0.00701
|
NM_006939.4(SOS2):c.3489+19C>T
|
rs149825446
|
0.00700
|
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)
|
rs77615401
|
0.00699
|
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu)
|
rs16962093
|
0.00694
|
NM_000337.6(SGCD):c.507G>A (p.Ala169=)
|
rs10071079
|
0.00680
|
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys)
|
rs35924492
|
0.00660
|
NM_005633.4(SOS1):c.1074+5G>C
|
rs145155424
|
0.00655
|
NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro)
|
rs34417028
|
0.00652
|
NM_001267550.2(TTN):c.53288-18G>T
|
rs72646810
|
0.00643
|
NM_022114.4(PRDM16):c.2673G>A (p.Pro891=)
|
rs3819970
|
0.00634
|
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu)
|
rs558770240
|
0.00630
|
NM_004006.3(DMD):c.7476T>C (p.Val2492=)
|
rs142153424
|
0.00626
|
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe)
|
rs28763961
|
0.00618
|
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn)
|
rs35493783
|
0.00602
|
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met)
|
rs35078470
|
0.00601
|
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys)
|
rs77675624
|
0.00591
|
NM_024422.6(DSC2):c.1719C>T (p.Asn573=)
|
rs140167653
|
0.00590
|
NM_004415.4(DSP):c.105G>A (p.Gly35=)
|
rs77445784
|
0.00587
|
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=)
|
rs114008185
|
0.00577
|
NM_007373.4(SHOC2):c.1423-7C>T
|
rs180671383
|
0.00563
|
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=)
|
rs77484245
|
0.00552
|
NM_001943.5(DSG2):c.473T>G (p.Val158Gly)
|
rs191143292
|
0.00550
|
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp)
|
rs35028636
|
0.00535
|
NM_182914.3(SYNE2):c.888+17A>G
|
rs141247973
|
0.00534
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_001206641.3(COA6):c.212+162G>A
|
rs113627094
|
0.00491
|
NM_002471.4(MYH6):c.36G>A (p.Ala12=)
|
rs141014719
|
0.00487
|
NM_004006.3(DMD):c.10789C>T (p.Leu3597=)
|
rs1800281
|
0.00486
|
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn)
|
rs116567963
|
0.00481
|
NM_004415.4(DSP):c.2630+18C>T
|
rs145963404
|
0.00475
|
NM_182914.3(SYNE2):c.2803T>C (p.Leu935=)
|
rs114718315
|
0.00474
|
NM_001005242.3(PKP2):c.*202C>T
|
rs77988382
|
0.00472
|
NM_000257.4(MYH7):c.3864C>G (p.Ser1288=)
|
rs45501694
|
0.00469
|
NM_000126.4(ETFA):c.351+17T>C
|
rs138629105
|
0.00467
|
NM_014000.3(VCL):c.1557C>A (p.Ile519=)
|
rs150120464
|
0.00466
|
NM_002471.4(MYH6):c.1989C>T (p.Asn663=)
|
rs28730774
|
0.00451
|
NM_002471.4(MYH6):c.2168+17C>A
|
rs192337153
|
0.00443
|
NM_004281.4(BAG3):c.231G>A (p.Pro77=)
|
rs143752613
|
0.00441
|
NM_000257.4(MYH7):c.3972+16G>A
|
rs114978322
|
0.00424
|
NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly)
|
rs145463534
|
0.00423
|
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn)
|
rs143070183
|
0.00415
|
NM_007078.3(LDB3):c.352G>A (p.Val118Met)
|
rs35507268
|
0.00408
|
NM_004006.3(DMD):c.7542+13A>G
|
rs72466585
|
0.00407
|
NM_005633.4(SOS1):c.345+15C>T
|
rs75937422
|
0.00407
|
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=)
|
rs112775648
|
0.00406
|
NM_182914.3(SYNE2):c.16420T>A (p.Ser5474Thr)
|
rs114483901
|
0.00399
|
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr)
|
rs150170988
|
0.00396
|
NM_182961.4(SYNE1):c.20199+16C>T
|
rs114739771
|
0.00395
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_001232.4(CASQ2):c.*503G>A
|
rs72554068
|
0.00381
|
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln)
|
rs34580776
|
0.00376
|
NM_001985.3(ETFB):c.58-96G>A
|
rs140608276
|
0.00376
|
NM_004100.5(EYA4):c.*2918G>A
|
rs75986250
|
0.00369
|
NM_004333.6(BRAF):c.1141-19C>T
|
rs71645959
|
0.00360
|
NM_004453.4(ETFDH):c.381C>T (p.Leu127=)
|
rs149278633
|
0.00355
|
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val)
|
rs41313697
|
0.00352
|
NM_005633.4(SOS1):c.2997T>C (p.Asn999=)
|
rs145364368
|
0.00352
|
NM_000182.5(HADHA):c.1843A>G (p.Asn615Asp)
|
rs61731155
|
0.00349
|
NM_002471.4(MYH6):c.5475G>A (p.Glu1825=)
|
rs79143968
|
0.00344
|
NM_004281.4(BAG3):c.606G>T (p.Pro202=)
|
rs74157690
|
0.00341
|
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg)
|
rs143253411
|
0.00332
|
NM_001122630.2(CDKN1C):c.-132G>A
|
rs147317732
|
0.00329
|
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=)
|
rs72647886
|
0.00326
|
NM_002471.4(MYH6):c.1071C>T (p.Ile357=)
|
rs58131640
|
0.00309
|
NM_182914.3(SYNE2):c.20117G>A (p.Arg6706Gln)
|
rs35831865
|
0.00309
|
NM_005633.4(SOS1):c.*1303C>A
|
rs115153488
|
0.00308
|
NM_001079802.2(FKTN):c.*2265T>C
|
rs76003803
|
0.00304
|
NM_005633.4(SOS1):c.2673+14T>C
|
rs183998234
|
0.00304
|
NM_001792.5(CDH2):c.885C>T (p.Asp295=)
|
rs17493618
|
0.00300
|
NM_001985.3(ETFB):c.58-212A>C
|
rs143144671
|
0.00299
|
NM_001792.5(CDH2):c.702+6A>T
|
rs17493682
|
0.00293
|
NM_007078.3(LDB3):c.163G>A (p.Val55Ile)
|
rs3740343
|
0.00292
|
NM_001386795.1(DTNA):c.243A>G (p.Leu81=)
|
rs146923532
|
0.00285
|
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu)
|
rs150179494
|
0.00284
|
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr)
|
rs140811086
|
0.00280
|
NM_032578.4(MYPN):c.1079-18T>C
|
rs114932559
|
0.00278
|
NM_000257.4(MYH7):c.2162+4G>A
|
rs145738465
|
0.00276
|
NM_001105206.3(LAMA4):c.422+20G>T
|
rs188820838
|
0.00271
|
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=)
|
rs3729821
|
0.00267
|
NM_182914.3(SYNE2):c.15781G>A (p.Val5261Ile)
|
rs144605670
|
0.00267
|
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala)
|
rs201763096
|
0.00262
|
NM_001267550.2(TTN):c.5388T>C (p.Asp1796=)
|
rs72647878
|
0.00261
|
NM_000337.6(SGCD):c.*158G>A
|
rs187465743
|
0.00253
|
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala)
|
rs147356378
|
0.00252
|
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr)
|
rs187194973
|
0.00252
|
NM_001105206.3(LAMA4):c.4314A>C (p.Ser1438=)
|
rs77367833
|
0.00251
|
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu)
|
rs11570112
|
0.00247
|
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly)
|
rs139326669
|
0.00246
|
NM_000337.6(SGCD):c.*8110A>C
|
rs796540027
|
0.00245
|
NM_000337.6(SGCD):c.699+71G>A
|
rs187204080
|
0.00245
|
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)
|
rs75671029
|
0.00236
|
NM_005633.4(SOS1):c.*4023T>C
|
rs1043800
|
0.00233
|
NM_005633.4(SOS1):c.570C>T (p.Asp190=)
|
rs55980502
|
0.00233
|
NM_000475.5(NR0B1):c.588G>A (p.Leu196=)
|
rs138855021
|
0.00231
|
NM_001042475.3(CEP85L):c.1020+5170C>T
|
rs537800022
|
0.00231
|
NM_001103.4(ACTN2):c.1423G>A (p.Asp475Asn)
|
rs80257412
|
0.00230
|
NM_144573.4(NEXN):c.1659+18C>G
|
rs147422621
|
0.00228
|
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met)
|
rs149617776
|
0.00223
|
NM_005633.4(SOS1):c.3081+13A>G
|
rs189695571
|
0.00223
|
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln)
|
rs41261344
|
0.00222
|
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp)
|
rs144383241
|
0.00222
|
NM_000257.4(MYH7):c.297C>T (p.Pro99=)
|
rs140245862
|
0.00220
|
NM_001079802.2(FKTN):c.*2592T>C
|
rs538086095
|
0.00220
|
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=)
|
rs45554236
|
0.00217
|
NM_001105206.3(LAMA4):c.5016T>A (p.Ile1672=)
|
rs148517180
|
0.00210
|
NM_001122630.2(CDKN1C):c.99C>T (p.Arg33=)
|
rs149717696
|
0.00208
|
NM_001035.3(RYR2):c.2396+17T>G
|
rs376363428
|
0.00207
|
NM_133379.5(TTN):c.13347A>G (p.Ile4449Met)
|
rs144539321
|
0.00200
|
NM_000117.3(EMD):c.399+18C>T
|
rs182540760
|
0.00199
|
NM_133379.5(TTN):c.10917C>T (p.Gly3639=)
|
rs140804168
|
0.00199
|
NM_000258.3(MYL3):c.130-14G>T
|
rs192329378
|
0.00198
|
NM_004168.4(SDHA):c.1551+16C>T
|
rs184954254
|
0.00198
|
NM_014000.3(VCL):c.2434+19T>C
|
rs188216596
|
0.00198
|
NM_001042475.3(CEP85L):c.1020+5206G>A
|
rs146145000
|
0.00195
|
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser)
|
rs144762960
|
0.00195
|
NM_014000.3(VCL):c.1353-19G>A
|
rs145537824
|
0.00193
|
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly)
|
rs201167067
|
0.00192
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_007078.3(LDB3):c.1460G>A (p.Arg487His)
|
rs146265188
|
0.00189
|
NM_000337.6(SGCD):c.*2604T>C
|
rs541571525
|
0.00187
|
NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro)
|
rs76757102
|
0.00185
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu)
|
rs141392048
|
0.00180
|
NM_001105206.3(LAMA4):c.2493+15G>T
|
rs77901141
|
0.00178
|
NM_001458.5(FLNC):c.561C>T (p.Asp187=)
|
rs149474376
|
0.00178
|
NM_001943.5(DSG2):c.45+16G>C
|
rs199519502
|
0.00177
|
NM_002471.4(MYH6):c.2293-12C>G
|
rs115453571
|
0.00175
|
NM_001105206.3(LAMA4):c.196-9C>T
|
rs144850734
|
0.00174
|
NM_002709.3(PPP1CB):c.53-9G>A
|
rs368197884
|
0.00172
|
NM_000475.5(NR0B1):c.870C>T (p.Cys290=)
|
rs137987391
|
0.00168
|
NM_001458.5(FLNC):c.2390-9T>C
|
rs368068407
|
0.00168
|
NM_001927.4(DES):c.792C>T (p.Asp264=)
|
rs150370918
|
0.00168
|
NM_001042475.3(CEP85L):c.1020+17159G>A
|
rs150080760
|
0.00167
|
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg)
|
rs61757261
|
0.00165
|
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser)
|
rs8192671
|
0.00164
|
NM_022114.4(PRDM16):c.1684G>A (p.Val562Ile)
|
rs150395260
|
0.00159
|
NM_033337.3(CAV3):c.336C>T (p.Ile112=)
|
rs139985460
|
0.00157
|
NM_001105206.3(LAMA4):c.4822-3C>T
|
rs191447048
|
0.00151
|
NM_021167.5(GATAD1):c.762G>A (p.Gly254=)
|
rs139637606
|
0.00151
|
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser)
|
rs144907522
|
0.00148
|
NM_000363.5(TNNI3):c.109-17C>A
|
rs139150276
|
0.00147
|
NM_001103.4(ACTN2):c.1515+15C>T
|
rs368107695
|
0.00147
|
NM_000337.6(SGCD):c.*3845T>C
|
rs528838126
|
0.00145
|
NM_022114.4(PRDM16):c.3102C>T (p.Asn1034=)
|
rs199853370
|
0.00144
|
NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=)
|
rs540923047
|
0.00143
|
NM_024422.6(DSC2):c.-408T>C
|
rs188926948
|
0.00141
|
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg)
|
rs7215458
|
0.00140
|
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys)
|
rs141741640
|
0.00138
|
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala)
|
rs79068489
|
0.00137
|
NM_000337.6(SGCD):c.*6065A>G
|
rs183129118
|
0.00130
|
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr)
|
rs114544564
|
0.00130
|
NM_002230.4(JUP):c.*771G>C
|
rs569650118
|
0.00130
|
NM_001267550.2(TTN):c.32555-6T>C
|
rs375742678
|
0.00129
|
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp)
|
rs72660870
|
0.00129
|
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys)
|
rs61729664
|
0.00128
|
NM_001943.5(DSG2):c.1875G>C (p.Leu625=)
|
rs35743180
|
0.00128
|
NM_007078.3(LDB3):c.689+10G>A
|
rs45563234
|
0.00125
|
NM_001458.5(FLNC):c.597C>T (p.Ala199=)
|
rs143942649
|
0.00124
|
NM_004415.4(DSP):c.522T>C (p.Cys174=)
|
rs144781697
|
0.00124
|
NM_005343.4(HRAS):c.357C>T (p.Asp119=)
|
rs111352454
|
0.00121
|
NM_001103.4(ACTN2):c.*1969C>T
|
rs753897286
|
0.00120
|
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=)
|
rs201069454
|
0.00119
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
NM_001458.5(FLNC):c.6309C>T (p.Thr2103=)
|
rs376992044
|
0.00116
|
NM_000152.5(GAA):c.*288G>T
|
rs568131293
|
0.00113
|
NM_004006.3(DMD):c.5984A>T (p.Tyr1995Phe)
|
rs147927593
|
0.00113
|
NM_014000.3(VCL):c.*646C>G
|
rs41280414
|
0.00112
|
NM_001458.5(FLNC):c.4581-5T>A
|
rs368660628
|
0.00111
|
NM_001458.5(FLNC):c.3000T>C (p.Asp1000=)
|
rs184454068
|
0.00110
|
NM_004006.3(DMD):c.7571G>A (p.Arg2524His)
|
rs151244052
|
0.00109
|
NM_003476.5(CSRP3):c.*12G>A
|
rs45607943
|
0.00108
|
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile)
|
rs139399951
|
0.00104
|
NM_033360.4(KRAS):c.5-18A>G
|
rs200189105
|
0.00100
|
NM_020774.4(MIB1):c.3007A>G (p.Ile1003Val)
|
rs150652745
|
0.00099
|
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=)
|
rs142034311
|
0.00098
|
NM_004006.3(DMD):c.2261G>T (p.Gly754Val)
|
rs151242451
|
0.00098
|
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=)
|
rs144122893
|
0.00097
|
NM_000337.6(SGCD):c.*8356T>A
|
rs576236693
|
0.00096
|
NM_002834.5(PTPN11):c.526-17T>C
|
rs375184329
|
0.00096
|
NM_032578.4(MYPN):c.1460-14T>A
|
rs201156035
|
0.00096
|
NM_000183.2(HADHB):c.-124C>G
|
rs575302805
|
0.00095
|
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr)
|
rs145532615
|
0.00095
|
NM_000157.4(GBA1):c.1473C>T (p.Pro491=)
|
rs149257166
|
0.00094
|
NM_001005242.3(PKP2):c.156G>A (p.Lys52=)
|
rs201210997
|
0.00092
|
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile)
|
rs149487315
|
0.00091
|
NM_001105206.3(LAMA4):c.514G>A (p.Gly172Ser)
|
rs147695488
|
0.00091
|
NM_001458.5(FLNC):c.7185C>T (p.Ser2395=)
|
rs199880128
|
0.00090
|
NM_004281.4(BAG3):c.1503C>A (p.Val501=)
|
rs147277075
|
0.00089
|
NM_005633.4(SOS1):c.*534C>T
|
rs773935049
|
0.00089
|
NM_133379.5(TTN):c.13045C>A (p.Pro4349Thr)
|
rs140064945
|
0.00089
|
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His)
|
rs36215251
|
0.00089
|
NM_002880.4(RAF1):c.581+4A>G
|
rs201776526
|
0.00087
|
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)
|
rs121965019
|
0.00086
|
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=)
|
rs186105748
|
0.00086
|
NM_014000.3(VCL):c.1572C>T (p.Ala524=)
|
rs138566234
|
0.00086
|
NM_000337.6(SGCD):c.*4993A>C
|
rs62382385
|
0.00084
|
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met)
|
rs151317312
|
0.00084
|
NM_005633.4(SOS1):c.2238T>C (p.Asn746=)
|
rs75877625
|
0.00084
|
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile)
|
rs201432372
|
0.00083
|
NM_000257.4(MYH7):c.1395C>T (p.Phe465=)
|
rs45508293
|
0.00082
|
NM_005633.4(SOS1):c.73C>T (p.Pro25Ser)
|
rs139592595
|
0.00082
|
NM_003476.5(CSRP3):c.*245T>C
|
rs369635973
|
0.00081
|
NM_000117.3(EMD):c.396C>T (p.His132=)
|
rs145985318
|
0.00077
|
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val)
|
rs28763971
|
0.00077
|
NM_170707.4(LMNA):c.1489-16C>G
|
rs201379016
|
0.00076
|
NM_014000.3(VCL):c.1348A>C (p.Arg450=)
|
rs142128712
|
0.00075
|
NM_002230.4(JUP):c.2059A>G (p.Ile687Val)
|
rs138366708
|
0.00074
|
NM_012082.4(ZFPM2):c.2963A>C (p.Lys988Thr)
|
rs139881948
|
0.00073
|
NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=)
|
rs3734366
|
0.00073
|
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu)
|
rs1805125
|
0.00071
|
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=)
|
rs138064129
|
0.00071
|
NM_001267550.2(TTN):c.6041C>T (p.Thr2014Ile)
|
rs189149543
|
0.00070
|
NM_001103.4(ACTN2):c.877-6G>A
|
rs397516585
|
0.00068
|
NM_001134363.3(RBM20):c.*2787A>T
|
rs566666703
|
0.00068
|
NM_004281.4(BAG3):c.*402T>C
|
rs541591765
|
0.00068
|
NM_001232.3(CASQ2):c.-234C>A
|
rs553316024
|
0.00067
|
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg)
|
rs139425622
|
0.00066
|
NM_003239.5(TGFB3):c.179C>T (p.Thr60Met)
|
rs4252315
|
0.00066
|
NM_004333.6(BRAF):c.981-20C>T
|
rs374896031
|
0.00066
|
NM_001122630.2(CDKN1C):c.702G>A (p.Gly234=)
|
rs556682082
|
0.00065
|
NM_001267550.2(TTN):c.40927+16C>T
|
rs369965589
|
0.00065
|
NM_000257.4(MYH7):c.4005G>A (p.Ser1335=)
|
rs144465613
|
0.00064
|
NM_006206.6(PDGFRA):c.1325T>C (p.Leu442Pro)
|
rs139236922
|
0.00064
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00063
|
NM_000447.3(PSEN2):c.162G>C (p.Glu54Asp)
|
rs146894466
|
0.00063
|
NM_004006.3(DMD):c.1028G>A (p.Arg343His)
|
rs61733589
|
0.00062
|
NM_000335.5(SCN5A):c.*382T>C
|
rs45459402
|
0.00061
|
NM_001368067.1(LDB3):c.780C>T (p.Asn260=)
|
rs372789789
|
0.00061
|
NM_024422.6(DSC2):c.2498G>A (p.Arg833His)
|
rs370325533
|
0.00061
|
NM_001035.3(RYR2):c.11092-10A>T
|
rs577119352
|
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_005633.4(SOS1):c.*559C>T
|
rs572880679
|
0.00059
|
NM_022114.4(PRDM16):c.1599G>A (p.Ser533=)
|
rs373205864
|
0.00059
|
NM_133379.5(TTN):c.10920T>C (p.Ser3640=)
|
rs142585268
|
0.00059
|
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly)
|
rs372480044
|
0.00058
|
NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser)
|
rs143345726
|
0.00058
|
NM_022114.4(PRDM16):c.2603+6C>T
|
rs374549827
|
0.00058
|
NM_032578.4(MYPN):c.1236C>A (p.Thr412=)
|
rs151220474
|
0.00058
|
NM_000337.6(SGCD):c.*4608G>A
|
rs541428502
|
0.00057
|
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys)
|
rs191482653
|
0.00057
|
NM_000337.6(SGCD):c.*6833G>A
|
rs137998497
|
0.00056
|
NM_003476.5(CSRP3):c.*638T>C
|
rs779532194
|
0.00056
|
NM_000218.3(KCNQ1):c.1332G>A (p.Thr444=)
|
rs144985256
|
0.00054
|
NM_004006.3(DMD):c.5203C>T (p.Arg1735Cys)
|
rs147904018
|
0.00054
|
NM_014000.3(VCL):c.*1282C>T
|
rs529687198
|
0.00054
|
NM_033337.3(CAV3):c.*834A>T
|
rs771619043
|
0.00054
|
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=)
|
rs75817012
|
0.00053
|
NM_001105206.3(LAMA4):c.674C>T (p.Ala225Val)
|
rs149615862
|
0.00052
|
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=)
|
rs201804323
|
0.00052
|
NM_005633.4(SOS1):c.*3989G>C
|
rs751112874
|
0.00052
|
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln)
|
rs142877365
|
0.00052
|
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg)
|
rs148975262
|
0.00051
|
NM_007078.3(LDB3):c.1045T>A (p.Ser349Thr)
|
rs147042608
|
0.00051
|
NM_182961.4(SYNE1):c.9394A>G (p.Ser3132Gly)
|
rs138481762
|
0.00051
|
NM_000182.5(HADHA):c.652G>C (p.Val218Leu)
|
rs71441018
|
0.00050
|
NM_000218.3(KCNQ1):c.1431C>T (p.Pro477=)
|
rs137887424
|
0.00050
|
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=)
|
rs145379951
|
0.00050
|
NM_001105206.3(LAMA4):c.5340A>G (p.Thr1780=)
|
rs139241892
|
0.00050
|
NM_033337.3(CAV3):c.*741G>A
|
rs560215660
|
0.00050
|
NM_000335.5(SCN5A):c.1335C>T (p.His445=)
|
rs368045716
|
0.00048
|
NM_001134363.3(RBM20):c.*1360G>A
|
rs572337036
|
0.00048
|
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)
|
rs148176616
|
0.00048
|
NM_004006.3(DMD):c.2381-3T>C
|
rs147931243
|
0.00048
|
NM_021167.5(GATAD1):c.604G>A (p.Ala202Thr)
|
rs564747350
|
0.00048
|
NM_024334.3(TMEM43):c.705+7G>A
|
rs201916031
|
0.00048
|
NM_206937.2(LIG4):c.691C>T (p.Pro231Ser)
|
rs3093765
|
0.00048
|
NM_001103.4(ACTN2):c.*551G>A
|
rs566548706
|
0.00047
|
NM_002834.5(PTPN11):c.1379+20C>T
|
rs184743462
|
0.00047
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
NM_000337.6(SGCD):c.*5591G>A
|
rs746078886
|
0.00046
|
NM_001134363.3(RBM20):c.*936T>A
|
rs150308379
|
0.00046
|
NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu)
|
rs398124448
|
0.00046
|
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala)
|
rs140842479
|
0.00046
|
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly)
|
rs200166942
|
0.00045
|
NM_001267550.2(TTN):c.51065C>T (p.Ala17022Val)
|
rs372419267
|
0.00045
|
NM_004006.3(DMD):c.-188C>T
|
rs886043394
|
0.00045
|
NM_006073.4(TRDN):c.611-19A>T
|
rs142018848
|
0.00044
|
NM_014000.3(VCL):c.1237G>A (p.Ala413Thr)
|
rs146278697
|
0.00044
|
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)
|
rs150763745
|
0.00043
|
NM_001035.3(RYR2):c.13974A>G (p.Gly4658=)
|
rs374606415
|
0.00043
|
NM_004333.6(BRAF):c.2127+3A>G
|
rs371976102
|
0.00043
|
NM_001267550.2(TTN):c.37876C>A (p.Pro12626Thr)
|
rs762460746
|
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_133379.5(TTN):c.10617T>C (p.His3539=)
|
rs200284932
|
0.00042
|
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser)
|
rs72648909
|
0.00042
|
NM_001458.5(FLNC):c.7614G>T (p.Leu2538Phe)
|
rs180834558
|
0.00041
|
NM_002230.4(JUP):c.510G>A (p.Ser170=)
|
rs140539043
|
0.00041
|
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val)
|
rs374355537
|
0.00041
|
NM_144573.4(NEXN):c.1785C>T (p.Asp595=)
|
rs182998780
|
0.00041
|
NM_001267550.2(TTN):c.34294C>T (p.Pro11432Ser)
|
rs534339525
|
0.00040
|
NM_005633.4(SOS1):c.*4014T>C
|
rs186738827
|
0.00040
|
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp)
|
rs141604342
|
0.00040
|
NM_014000.3(VCL):c.*1659C>T
|
rs1804893
|
0.00040
|
NM_032578.4(MYPN):c.2190G>A (p.Thr730=)
|
rs71584492
|
0.00040
|
NM_000231.3(SGCG):c.157C>T (p.Leu53Phe)
|
rs138880406
|
0.00039
|
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp)
|
rs143141578
|
0.00039
|
NM_001267550.2(TTN):c.36196G>A (p.Asp12066Asn)
|
rs140655598
|
0.00039
|
NM_001943.5(DSG2):c.*211A>G
|
rs555912274
|
0.00039
|
NM_001943.5(DSG2):c.121C>A (p.His41Asn)
|
rs201499704
|
0.00039
|
NM_005138.3(SCO2):c.713C>T (p.Thr238Met)
|
rs149439760
|
0.00039
|
NM_020433.5(JPH2):c.692G>A (p.Arg231Gln)
|
rs761591158
|
0.00039
|
NM_182961.4(SYNE1):c.12411C>T (p.His4137=)
|
rs751325537
|
0.00039
|
NM_000337.6(SGCD):c.*440G>A
|
rs535200914
|
0.00038
|
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys)
|
rs199474808
|
0.00038
|
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys)
|
rs147407445
|
0.00038
|
NM_133379.5(TTN):c.11649T>G (p.Phe3883Leu)
|
rs148581002
|
0.00037
|
NM_181703.4(GJA5):c.995G>A (p.Arg332His)
|
rs116551187
|
0.00037
|
NM_000258.3(MYL3):c.*112C>A
|
rs546968708
|
0.00036
|
NM_002471.4(MYH6):c.5140C>A (p.Arg1714=)
|
rs140651265
|
0.00036
|
NM_004006.3(DMD):c.3163-18T>C
|
rs72468662
|
0.00036
|
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp)
|
rs117671123
|
0.00036
|
NM_004376.7(COX15):c.-84G>A
|
rs574143521
|
0.00036
|
NM_006073.4(TRDN):c.367G>A (p.Asp123Asn)
|
rs201021891
|
0.00036
|
NM_007078.3(LDB3):c.664G>A (p.Ala222Thr)
|
rs139922045
|
0.00036
|
NM_024334.3(TMEM43):c.777C>T (p.His259=)
|
rs143958148
|
0.00036
|
NM_001267550.2(TTN):c.35921T>C (p.Met11974Thr)
|
rs535815566
|
0.00035
|
NM_002880.4(RAF1):c.-209G>A
|
rs727504351
|
0.00035
|
NM_004100.5(EYA4):c.*2511G>A
|
rs560590444
|
0.00035
|
NM_004100.5(EYA4):c.*3226A>C
|
rs73546871
|
0.00035
|
NM_000018.4(ACADVL):c.68G>A (p.Arg23Gln)
|
rs34153370
|
0.00034
|
NM_000152.5(GAA):c.1754+11C>T
|
rs371644603
|
0.00034
|
NM_001267550.2(TTN):c.36461C>G (p.Pro12154Arg)
|
rs371580084
|
0.00034
|
NM_003673.4(TCAP):c.*297C>T
|
rs772638575
|
0.00034
|
NM_006073.4(TRDN):c.71T>A (p.Val24Glu)
|
rs201097255
|
0.00034
|
NM_024422.6(DSC2):c.174T>C (p.Phe58=)
|
rs150792047
|
0.00034
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_001458.5(FLNC):c.3964+9C>T
|
rs200448727
|
0.00033
|
NM_002471.4(MYH6):c.5627A>G (p.Lys1876Arg)
|
rs201919534
|
0.00033
|
NM_004453.4(ETFDH):c.-61C>T
|
rs377679439
|
0.00033
|
NM_006073.4(TRDN):c.1472-13C>T
|
rs367962513
|
0.00033
|
NM_001042475.3(CEP85L):c.1020+6034A>G
|
rs117280667
|
0.00032
|
NM_001079802.2(FKTN):c.25G>T (p.Val9Phe)
|
rs145387221
|
0.00032
|
NM_001134363.3(RBM20):c.*2148G>A
|
rs886046717
|
0.00032
|
NM_001232.4(CASQ2):c.320-18C>T
|
rs376871374
|
0.00032
|
NM_003476.5(CSRP3):c.*415A>G
|
rs180844111
|
0.00032
|
NM_000447.3(PSEN2):c.520A>G (p.Met174Val)
|
rs61757781
|
0.00031
|
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr)
|
rs201358641
|
0.00031
|
NM_001458.5(FLNC):c.5070C>T (p.Leu1690=)
|
rs202027738
|
0.00031
|
NM_004168.4(SDHA):c.*179G>A
|
rs980815395
|
0.00031
|
NM_004415.4(DSP):c.273+5G>A
|
rs200473206
|
0.00031
|
NM_014000.3(VCL):c.1626C>T (p.Leu542=)
|
rs150402791
|
0.00031
|
NM_020433.5(JPH2):c.1566G>A (p.Arg522=)
|
rs559143345
|
0.00031
|
NM_133379.5(TTN):c.14240A>T (p.Asp4747Val)
|
rs149586047
|
0.00031
|
NM_000337.6(SGCD):c.*6186C>T
|
rs559185520
|
0.00030
|
NM_001035.3(RYR2):c.1292+19G>A
|
rs368198276
|
0.00030
|
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser)
|
rs201081663
|
0.00030
|
NM_001267550.2(TTN):c.39057G>A (p.Pro13019=)
|
rs371945519
|
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_000232.5(SGCB):c.151C>T (p.Arg51Cys)
|
rs144743676
|
0.00029
|
NM_000258.3(MYL3):c.307+16G>A
|
rs759754750
|
0.00029
|
NM_000447.3(PSEN2):c.184C>T (p.Arg62Cys)
|
rs150400387
|
0.00029
|
NM_001018005.2(TPM1):c.563+313A>G
|
rs144700226
|
0.00029
|
NM_001042475.3(CEP85L):c.1020+17275G>C
|
rs188578681
|
0.00029
|
NM_002230.4(JUP):c.459C>T (p.Asp153=)
|
rs376289528
|
0.00029
|
NM_000232.5(SGCB):c.496A>G (p.Ile166Val)
|
rs138877636
|
0.00028
|
NM_000337.6(SGCD):c.*7559G>C
|
rs751653849
|
0.00028
|
NM_001927.4(DES):c.640-16G>A
|
rs181712657
|
0.00028
|
NM_000337.6(SGCD):c.*2797A>T
|
rs771116351
|
0.00027
|
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr)
|
rs183276016
|
0.00027
|
NM_014000.3(VCL):c.*1285C>T
|
rs879813349
|
0.00027
|
NM_000203.5(IDUA):c.-71C>T
|
rs886059748
|
0.00026
|
NM_001035.3(RYR2):c.14757-19A>G
|
rs190533014
|
0.00026
|
NM_001079802.2(FKTN):c.*3516T>C
|
rs1041010308
|
0.00026
|
NM_001079802.2(FKTN):c.910+13C>T
|
rs375259473
|
0.00026
|
NM_001122630.2(CDKN1C):c.213G>A (p.Val71=)
|
rs141005361
|
0.00026
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
NM_005921.2(MAP3K1):c.2431A>G (p.Met811Val)
|
rs189290632
|
0.00026
|
NM_032578.4(MYPN):c.3818C>T (p.Pro1273Leu)
|
rs148942084
|
0.00026
|
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=)
|
rs151034170
|
0.00026
|
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln)
|
rs145229963
|
0.00025
|
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met)
|
rs139515659
|
0.00025
|
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg)
|
rs201148126
|
0.00025
|
NM_001458.5(FLNC):c.1757T>C (p.Val586Ala)
|
rs374132023
|
0.00025
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_004985.5(KRAS):c.24A>G (p.Val8=)
|
rs147406419
|
0.00025
|
NM_005138.3(SCO2):c.378G>A (p.Met126Ile)
|
rs150880212
|
0.00025
|
NM_022114.4(PRDM16):c.2666C>T (p.Pro889Leu)
|
rs201814961
|
0.00025
|
NM_000152.5(GAA):c.922C>T (p.His308Tyr)
|
rs112025212
|
0.00024
|
NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser)
|
rs199472820
|
0.00024
|
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg)
|
rs200625851
|
0.00024
|
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro)
|
rs377225516
|
0.00024
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser)
|
rs28730713
|
0.00024
|
NM_001267550.2(TTN):c.*141T>G
|
rs781617834
|
0.00024
|
NM_002471.4(MYH6):c.2685+10C>T
|
rs202155137
|
0.00024
|
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=)
|
rs148656020
|
0.00024
|
NM_022114.4(PRDM16):c.2126T>C (p.Met709Thr)
|
rs201807364
|
0.00024
|
NM_032578.4(MYPN):c.2321C>A (p.Ser774Tyr)
|
rs140933016
|
0.00024
|
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln)
|
rs200812806
|
0.00024
|
NM_000152.5(GAA):c.1310G>A (p.Arg437His)
|
rs150868652
|
0.00023
|
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu)
|
rs752492870
|
0.00023
|
NM_000335.5(SCN5A):c.5182G>A (p.Asp1728Asn)
|
rs763880032
|
0.00023
|
NM_001005242.3(PKP2):c.*330A>G
|
rs375759731
|
0.00023
|
NM_001105206.3(LAMA4):c.503G>A (p.Arg168Lys)
|
rs200368819
|
0.00023
|
NM_001122630.2(CDKN1C):c.319C>G (p.Pro107Ala)
|
rs772684721
|
0.00023
|
NM_001458.5(FLNC):c.1026C>T (p.Pro342=)
|
rs200633995
|
0.00023
|
NM_020297.4(ABCC9):c.3315+17C>T
|
rs200692327
|
0.00023
|
NM_024422.6(DSC2):c.-113C>A
|
rs866593085
|
0.00023
|
NM_000157.4(GBA1):c.1224G>A (p.Thr408=)
|
rs138498426
|
0.00022
|
NM_001105206.3(LAMA4):c.4645A>T (p.Asn1549Tyr)
|
rs141261442
|
0.00022
|
NM_001105206.3(LAMA4):c.578C>T (p.Ser193Leu)
|
rs147870828
|
0.00022
|
NM_001267550.2(TTN):c.17129G>A (p.Arg5710Gln)
|
rs200018866
|
0.00022
|
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu)
|
rs200952728
|
0.00022
|
NM_001267550.2(TTN):c.33911-6_33911-5insG
|
rs765503214
|
0.00022
|
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu)
|
rs189030321
|
0.00022
|
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu)
|
rs151178348
|
0.00022
|
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln)
|
rs199936506
|
0.00022
|
NM_002471.4(MYH6):c.4772A>G (p.Asn1591Ser)
|
rs200751434
|
0.00022
|
NM_002880.4(RAF1):c.-181T>C
|
rs886057920
|
0.00022
|
NM_005138.3(SCO2):c.127C>G (p.Pro43Ala)
|
rs147185850
|
0.00022
|
NM_013266.4(CTNNA3):c.779A>G (p.Gln260Arg)
|
rs190073606
|
0.00022
|
NM_014000.3(VCL):c.787A>T (p.Thr263Ser)
|
rs142233726
|
0.00022
|
NM_033337.3(CAV3):c.*852G>A
|
rs555268992
|
0.00022
|
NM_182914.3(SYNE2):c.9241C>T (p.Arg3081Trp)
|
rs150085946
|
0.00022
|
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser)
|
rs148311222
|
0.00021
|
NM_000257.4(MYH7):c.5656-9C>T
|
rs781212482
|
0.00021
|
NM_000257.4(MYH7):c.77C>T (p.Ala26Val)
|
rs186964570
|
0.00021
|
NM_000335.5(SCN5A):c.3296C>T (p.Ala1099Val)
|
rs199473192
|
0.00021
|
NM_000337.6(SGCD):c.*5337G>A
|
rs144968734
|
0.00021
|
NM_000363.5(TNNI3):c.373-16C>T
|
rs373508654
|
0.00021
|
NM_001267550.2(TTN):c.40634-10T>A
|
rs375097334
|
0.00021
|
NM_001267550.2(TTN):c.55852T>C (p.Cys18618Arg)
|
rs369260968
|
0.00021
|
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp)
|
rs540161344
|
0.00021
|
NM_001458.5(FLNC):c.2635C>T (p.Arg879Cys)
|
rs374983276
|
0.00021
|
NM_001458.5(FLNC):c.5889G>A (p.Thr1963=)
|
rs374743518
|
0.00021
|
NM_001927.4(DES):c.166G>C (p.Val56Leu)
|
rs578066781
|
0.00021
|
NM_002471.4(MYH6):c.3383G>A (p.Arg1128His)
|
rs376002621
|
0.00021
|
NM_003673.4(TCAP):c.458G>A (p.Arg153His)
|
rs149585781
|
0.00021
|
NM_024334.3(TMEM43):c.896G>C (p.Arg299Thr)
|
rs139590716
|
0.00021
|
NM_030662.4(MAP2K2):c.450+17C>T
|
rs199892711
|
0.00021
|
NM_033118.4(MYLK2):c.191G>C (p.Gly64Ala)
|
rs141105787
|
0.00021
|
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp)
|
rs140780725
|
0.00021
|
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
|
rs1064651
|
0.00020
|
NM_000182.5(HADHA):c.2131C>A (p.Pro711Thr)
|
rs138966725
|
0.00020
|
NM_000257.4(MYH7):c.5283+19C>T
|
rs45582836
|
0.00020
|
NM_000337.6(SGCD):c.*7231A>T
|
rs766236284
|
0.00020
|
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys)
|
rs202040519
|
0.00020
|
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu)
|
rs749285793
|
0.00020
|
NM_001267550.2(TTN):c.10977G>A (p.Ala3659=)
|
rs369327691
|
0.00020
|
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)
|
rs373355159
|
0.00020
|
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln)
|
rs367720439
|
0.00020
|
NM_001267550.2(TTN):c.37193C>T (p.Pro12398Leu)
|
rs570730533
|
0.00020
|
NM_001267550.2(TTN):c.48460+5G>A
|
rs374413644
|
0.00020
|
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His)
|
rs202149931
|
0.00020
|
NM_005633.4(SOS1):c.*3252A>C
|
rs769883659
|
0.00020
|
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235
|
0.00019
|
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu)
|
rs45609733
|
0.00019
|
NM_000337.6(SGCD):c.*5907T>C
|
rs766068819
|
0.00019
|
NM_000371.4(TTR):c.368G>A (p.Arg123His)
|
rs148538950
|
0.00019
|
NM_001079802.2(FKTN):c.41C>T (p.Thr14Met)
|
rs149033995
|
0.00019
|
NM_001232.4(CASQ2):c.*929C>T
|
rs547458797
|
0.00019
|
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)
|
rs368321767
|
0.00019
|
NM_001267550.2(TTN):c.101281C>T (p.Arg33761Trp)
|
rs201421156
|
0.00019
|
NM_001267550.2(TTN):c.78914C>G (p.Ser26305Cys)
|
rs199646089
|
0.00019
|
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys)
|
rs200503016
|
0.00019
|
NM_001267550.2(TTN):c.95450T>C (p.Val31817Ala)
|
rs758207460
|
0.00019
|
NM_001458.5(FLNC):c.2296C>T (p.Arg766Trp)
|
rs200215340
|
0.00019
|
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser)
|
rs147628503
|
0.00019
|
NM_002471.4(MYH6):c.3598G>C (p.Asp1200His)
|
rs372794975
|
0.00019
|
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp)
|
rs727503234
|
0.00019
|
NM_004006.3(DMD):c.3379C>G (p.Leu1127Val)
|
rs141887693
|
0.00019
|
NM_004281.4(BAG3):c.*399G>T
|
rs774188346
|
0.00019
|
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys)
|
rs370093129
|
0.00019
|
NM_006073.4(TRDN):c.1537+1G>A
|
rs189125299
|
0.00019
|
NM_014000.3(VCL):c.2969C>T (p.Ala990Val)
|
rs150595117
|
0.00019
|
NM_133379.5(TTN):c.13614A>C (p.Gln4538His)
|
rs139344272
|
0.00019
|
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His)
|
rs148522587
|
0.00019
|
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)
|
rs372799904
|
0.00018
|
NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser)
|
rs199473443
|
0.00018
|
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met)
|
rs199473333
|
0.00018
|
NM_001159699.2(FHL1):c.652G>A (p.Ala218Thr)
|
rs752366165
|
0.00018
|
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly)
|
rs372304158
|
0.00018
|
NM_001267550.2(TTN):c.36847A>C (p.Lys12283Gln)
|
rs1479390801
|
0.00018
|
NM_001267550.2(TTN):c.38627-16A>G
|
rs1014728001
|
0.00018
|
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala)
|
rs201922910
|
0.00018
|
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala)
|
rs200775919
|
0.00018
|
NM_001267550.2(TTN):c.96928A>C (p.Thr32310Pro)
|
rs542208825
|
0.00018
|
NM_001458.5(FLNC):c.7108G>A (p.Gly2370Ser)
|
rs201917318
|
0.00018
|
NM_002230.4(JUP):c.1582G>A (p.Val528Ile)
|
rs368271628
|
0.00018
|
NM_002471.4(MYH6):c.4536G>A (p.Ser1512=)
|
rs142539180
|
0.00018
|
NM_004100.5(EYA4):c.1617-13C>G
|
rs756045097
|
0.00018
|
NM_005633.4(SOS1):c.*185A>G
|
rs556367844
|
0.00018
|
NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser)
|
rs142863840
|
0.00018
|
NM_022114.4(PRDM16):c.832G>A (p.Gly278Ser)
|
rs375316181
|
0.00018
|
NM_000152.5(GAA):c.131G>T (p.Gly44Val)
|
rs550609502
|
0.00017
|
NM_000152.5(GAA):c.1320G>T (p.Met440Ile)
|
rs550837627
|
0.00017
|
NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile)
|
rs373519667
|
0.00017
|
NM_001005242.3(PKP2):c.928G>A (p.Val310Met)
|
rs768396351
|
0.00017
|
NM_001267550.2(TTN):c.38506G>A (p.Val12836Met)
|
rs779238709
|
0.00017
|
NM_001267550.2(TTN):c.58727G>A (p.Arg19576His)
|
rs771668359
|
0.00017
|
NM_001267550.2(TTN):c.76402G>T (p.Val25468Leu)
|
rs200308639
|
0.00017
|
NM_004333.6(BRAF):c.240+18A>G
|
rs368584855
|
0.00017
|
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr)
|
rs376722127
|
0.00017
|
NM_005633.4(SOS1):c.3347-1G>A
|
rs141565234
|
0.00017
|
NM_006073.4(TRDN):c.419A>G (p.Lys140Arg)
|
rs200953683
|
0.00017
|
NM_006767.4(LZTR1):c.264-13G>A
|
rs587777176
|
0.00017
|
NM_007078.3(LDB3):c.1858-10T>C
|
rs202208256
|
0.00017
|
NM_133379.5(TTN):c.13586C>G (p.Ala4529Gly)
|
rs138927584
|
0.00017
|
NM_000157.4(GBA1):c.222_224del (p.Thr75del)
|
rs761621516
|
0.00016
|
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp)
|
rs140452381
|
0.00016
|
NM_000231.3(SGCG):c.596G>A (p.Arg199Gln)
|
rs200191311
|
0.00016
|
NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His)
|
rs137854610
|
0.00016
|
NM_000337.5(SGCD):c.-404G>A
|
rs192662989
|
0.00016
|
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)
|
rs200476861
|
0.00016
|
NM_001005242.3(PKP2):c.176A>T (p.Gln59Leu)
|
rs730880179
|
0.00016
|
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys)
|
rs199583774
|
0.00016
|
NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr)
|
rs139215336
|
0.00016
|
NM_001005242.3(PKP2):c.336+17T>G
|
rs185681814
|
0.00016
|
NM_001018005.1(TPM1):c.-106C>T
|
rs886051320
|
0.00016
|
NM_001035.3(RYR2):c.2755G>A (p.Val919Met)
|
rs201079716
|
0.00016
|
NM_001122630.2(CDKN1C):c.551T>C (p.Val184Ala)
|
rs1261515352
|
0.00016
|
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser)
|
rs730880182
|
0.00016
|
NM_001134363.3(RBM20):c.2042A>G (p.Tyr681Cys)
|
rs372048968
|
0.00016
|
NM_001134363.3(RBM20):c.2551G>A (p.Ala851Thr)
|
rs376071070
|
0.00016
|
NM_001134363.3(RBM20):c.761C>T (p.Ser254Leu)
|
rs766868824
|
0.00016
|
NM_001267550.2(TTN):c.102121G>A (p.Glu34041Lys)
|
rs377600383
|
0.00016
|
NM_001267550.2(TTN):c.36644C>T (p.Pro12215Leu)
|
rs367720476
|
0.00016
|
NM_001267550.2(TTN):c.40515G>A (p.Pro13505=)
|
rs367958537
|
0.00016
|
NM_001267550.2(TTN):c.53881+5G>A
|
rs753527304
|
0.00016
|
NM_001267550.2(TTN):c.81673G>A (p.Val27225Ile)
|
rs375211424
|
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_001927.4(DES):c.643G>A (p.Val215Met)
|
rs144908941
|
0.00016
|
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg)
|
rs201564919
|
0.00016
|
NM_002471.4(MYH6):c.4812T>C (p.Asp1604=)
|
rs201667127
|
0.00016
|
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr)
|
rs397516775
|
0.00016
|
NM_003476.5(CSRP3):c.175A>G (p.Lys59Glu)
|
rs769003538
|
0.00016
|
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu)
|
rs377509915
|
0.00016
|
NM_004333.6(BRAF):c.1860+16A>G
|
rs368859030
|
0.00016
|
NM_004415.4(DSP):c.-157G>A
|
rs886061742
|
0.00016
|
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu)
|
rs141834182
|
0.00016
|
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln)
|
rs146642551
|
0.00016
|
NM_004415.4(DSP):c.7599T>C (p.Ala2533=)
|
rs374266378
|
0.00016
|
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser)
|
rs369682599
|
0.00016
|
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala)
|
rs371408734
|
0.00016
|
NM_006073.4(TRDN):c.85G>A (p.Gly29Arg)
|
rs763469367
|
0.00016
|
NM_007078.3(LDB3):c.-24+41G>A
|
rs45578532
|
0.00016
|
NM_014908.4(DOLK):c.1257C>G (p.Ile419Met)
|
rs138962748
|
0.00016
|
NM_020297.4(ABCC9):c.3669G>A (p.Thr1223=)
|
rs146942382
|
0.00016
|
NM_020297.4(ABCC9):c.4512+765C>T
|
rs142875103
|
0.00016
|
NM_020774.4(MIB1):c.2746G>A (p.Gly916Arg)
|
rs147206277
|
0.00016
|
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser)
|
rs373932824
|
0.00016
|
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr)
|
rs201856473
|
0.00016
|
NM_033337.3(CAV3):c.*134G>A
|
rs949111902
|
0.00016
|
NM_078470.6(COX15):c.131G>A (p.Ser44Asn)
|
rs141506146
|
0.00016
|
NM_133379.5(TTN):c.15122C>G (p.Thr5041Arg)
|
rs148791107
|
0.00016
|
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr)
|
rs199472676
|
0.00015
|
NM_001005242.3(PKP2):c.805G>A (p.Gly269Arg)
|
rs757285245
|
0.00015
|
NM_001079802.2(FKTN):c.*2433G>A
|
rs886063329
|
0.00015
|
NM_001105206.3(LAMA4):c.1298G>A (p.Arg433His)
|
rs369658574
|
0.00015
|
NM_001105206.3(LAMA4):c.4792G>T (p.Ala1598Ser)
|
rs202176359
|
0.00015
|
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser)
|
rs200355367
|
0.00015
|
NM_001267550.2(TTN):c.36391C>T (p.Arg12131Cys)
|
rs368607833
|
0.00015
|
NM_001267550.2(TTN):c.37873G>A (p.Val12625Met)
|
rs1336768417
|
0.00015
|
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu)
|
rs200132226
|
0.00015
|
NM_001458.5(FLNC):c.7136-6C>A
|
rs368292177
|
0.00015
|
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys)
|
rs371146201
|
0.00015
|
NM_002230.4(JUP):c.*413C>T
|
rs559600252
|
0.00015
|
NM_002471.4(MYH6):c.3732+13C>T
|
rs369889994
|
0.00015
|
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr)
|
rs144513891
|
0.00015
|
NM_007078.3(LDB3):c.826C>T (p.Arg276Cys)
|
rs397517226
|
0.00015
|
NM_014908.4(DOLK):c.1324G>A (p.Ala442Thr)
|
rs143641133
|
0.00015
|
NM_020433.5(JPH2):c.579C>T (p.Pro193=)
|
rs534491843
|
0.00015
|
NM_022114.4(PRDM16):c.1738G>A (p.Glu580Lys)
|
rs371024796
|
0.00015
|
NM_182961.4(SYNE1):c.12115G>A (p.Val4039Ile)
|
rs199774691
|
0.00015
|
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg)
|
rs200788251
|
0.00014
|
NM_000021.4(PSEN1):c.*390T>G
|
rs200372973
|
0.00014
|
NM_000152.5(GAA):c.1888+5G>T
|
rs528282884
|
0.00014
|
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=)
|
rs1805118
|
0.00014
|
NM_000257.4(MYH7):c.4170-8C>A
|
rs199632504
|
0.00014
|
NM_000335.5(SCN5A):c.1425A>C (p.Arg475Ser)
|
rs199473116
|
0.00014
|
NM_000337.6(SGCD):c.*1719G>A
|
rs886060293
|
0.00014
|
NM_000337.6(SGCD):c.*3779T>C
|
rs886060302
|
0.00014
|
NM_000371.3(TTR):c.-61G>A
|
rs770403822
|
0.00014
|
NM_000447.3(PSEN2):c.772G>A (p.Ala258Thr)
|
rs148238688
|
0.00014
|
NM_000447.3(PSEN2):c.886+16G>A
|
rs202005802
|
0.00014
|
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)
|
rs200450676
|
0.00014
|
NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln)
|
rs146049441
|
0.00014
|
NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr)
|
rs146164600
|
0.00014
|
NM_001103.4(ACTN2):c.2367+5G>A
|
rs200469353
|
0.00014
|
NM_001105206.3(LAMA4):c.1541G>A (p.Arg514Gln)
|
rs146358872
|
0.00014
|
NM_001105206.3(LAMA4):c.4493G>A (p.Arg1498His)
|
rs147556641
|
0.00014
|
NM_001105206.3(LAMA4):c.910G>A (p.Gly304Arg)
|
rs191391557
|
0.00014
|
NM_001122630.2(CDKN1C):c.736G>T (p.Ala246Ser)
|
rs754283907
|
0.00014
|
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn)
|
rs199750975
|
0.00014
|
NM_001267550.2(TTN):c.15333C>T (p.Asp5111=)
|
rs368695667
|
0.00014
|
NM_001267550.2(TTN):c.25564G>A (p.Asp8522Asn)
|
rs199619070
|
0.00014
|
NM_001267550.2(TTN):c.35924C>A (p.Ala11975Asp)
|
rs182102510
|
0.00014
|
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe)
|
rs201541213
|
0.00014
|
NM_001267550.2(TTN):c.80666A>G (p.Tyr26889Cys)
|
rs571328201
|
0.00014
|
NM_001267550.2(TTN):c.91119A>G (p.Lys30373=)
|
rs192167542
|
0.00014
|
NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu)
|
rs146199720
|
0.00014
|
NM_001267550.2(TTN):c.9795A>C (p.Arg3265Ser)
|
rs141708467
|
0.00014
|
NM_001458.5(FLNC):c.1259G>A (p.Arg420Gln)
|
rs371410741
|
0.00014
|
NM_001458.5(FLNC):c.4367G>C (p.Gly1456Ala)
|
rs775049569
|
0.00014
|
NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser)
|
rs374124083
|
0.00014
|
NM_001458.5(FLNC):c.5432G>A (p.Arg1811Gln)
|
rs369759751
|
0.00014
|
NM_001943.5(DSG2):c.430G>A (p.Glu144Lys)
|
rs199842209
|
0.00014
|
NM_002230.4(JUP):c.84G>A (p.Ser28=)
|
rs144137028
|
0.00014
|
NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser)
|
rs150415679
|
0.00014
|
NM_002471.4(MYH6):c.2611C>T (p.Arg871Cys)
|
rs376682837
|
0.00014
|
NM_003239.5(TGFB3):c.-547dup
|
rs886050802
|
0.00014
|
NM_003673.4(TCAP):c.337C>T (p.Leu113Phe)
|
rs372312912
|
0.00014
|
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr)
|
rs200526913
|
0.00014
|
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)
|
rs140965835
|
0.00014
|
NM_004415.4(DSP):c.521G>T (p.Cys174Phe)
|
rs377507763
|
0.00014
|
NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val)
|
rs199827643
|
0.00014
|
NM_020297.4(ABCC9):c.1987C>T (p.Arg663Cys)
|
rs200349671
|
0.00014
|
NM_032578.4(MYPN):c.845A>G (p.Glu282Gly)
|
rs146336815
|
0.00014
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly)
|
rs121965025
|
0.00013
|
NM_000337.6(SGCD):c.*1856A>T
|
rs886060295
|
0.00013
|
NM_000337.6(SGCD):c.*753C>T
|
rs543082767
|
0.00013
|
NM_000337.6(SGCD):c.755C>T (p.Thr252Met)
|
rs199520526
|
0.00013
|
NM_001005242.3(PKP2):c.1379-2018G>A
|
rs369518480
|
0.00013
|
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser)
|
rs374912618
|
0.00013
|
NM_001103.4(ACTN2):c.*128G>A
|
rs142016713
|
0.00013
|
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val)
|
rs137893207
|
0.00013
|
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser)
|
rs397517783
|
0.00013
|
NM_001267550.2(TTN):c.106837T>G (p.Ser35613Ala)
|
rs374405802
|
0.00013
|
NM_001267550.2(TTN):c.23353T>C (p.Cys7785Arg)
|
rs371090975
|
0.00013
|
NM_001267550.2(TTN):c.23675T>C (p.Ile7892Thr)
|
rs201181445
|
0.00013
|
NM_001267550.2(TTN):c.27715T>C (p.Tyr9239His)
|
rs373068293
|
0.00013
|
NM_001267550.2(TTN):c.36803C>G (p.Pro12268Arg)
|
rs997014833
|
0.00013
|
NM_001267550.2(TTN):c.62681G>T (p.Cys20894Phe)
|
rs370080086
|
0.00013
|
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His)
|
rs375693396
|
0.00013
|
NM_001267550.2(TTN):c.78991C>A (p.Arg26331=)
|
rs779996703
|
0.00013
|
NM_001267550.2(TTN):c.89066G>A (p.Arg29689His)
|
rs368634670
|
0.00013
|
NM_001267550.2(TTN):c.92170G>C (p.Gly30724Arg)
|
rs370928582
|
0.00013
|
NM_001267550.2(TTN):c.95245G>A (p.Glu31749Lys)
|
rs139542862
|
0.00013
|
NM_001458.5(FLNC):c.2297G>A (p.Arg766Gln)
|
rs369935650
|
0.00013
|
NM_001943.5(DSG2):c.2744G>C (p.Arg915Thr)
|
rs375358300
|
0.00013
|
NM_002471.4(MYH6):c.2383C>T (p.Arg795Trp)
|
rs202120238
|
0.00013
|
NM_002471.4(MYH6):c.4526-9G>C
|
rs201785356
|
0.00013
|
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=)
|
rs397516800
|
0.00013
|
NM_003239.5(TGFB3):c.1169A>T (p.Tyr390Phe)
|
rs996297395
|
0.00013
|
NM_004006.3(DMD):c.357+5G>A
|
rs778431187
|
0.00013
|
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln)
|
rs111368396
|
0.00013
|
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His)
|
rs141508330
|
0.00013
|
NM_006073.4(TRDN):c.1627C>A (p.Gln543Lys)
|
rs9398723
|
0.00013
|
NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg)
|
rs141870580
|
0.00013
|
NM_014908.4(DOLK):c.-194G>T
|
rs886063516
|
0.00013
|
NM_020433.5(JPH2):c.1357C>T (p.Pro453Ser)
|
rs556886570
|
0.00013
|
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys)
|
rs367910936
|
0.00013
|
NM_133379.5(TTN):c.10844G>A (p.Arg3615Gln)
|
rs747054427
|
0.00013
|
NM_133379.5(TTN):c.15314G>A (p.Arg5105Gln)
|
rs146359866
|
0.00013
|
NM_133379.5(TTN):c.15768T>A (p.His5256Gln)
|
rs138826545
|
0.00013
|
NM_182961.4(SYNE1):c.6549G>C (p.Glu2183Asp)
|
rs144797998
|
0.00013
|
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala)
|
rs63750082
|
0.00012
|
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys)
|
rs375433002
|
0.00012
|
NM_000258.3(MYL3):c.4G>C (p.Ala2Pro)
|
rs148310342
|
0.00012
|
NM_000335.5(SCN5A):c.1384G>A (p.Glu462Lys)
|
rs199473572
|
0.00012
|
NM_000337.6(SGCD):c.*6127G>A
|
rs527412372
|
0.00012
|
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)
|
rs121909298
|
0.00012
|
NM_000363.5(TNNI3):c.132G>C (p.Ser44=)
|
rs727504941
|
0.00012
|
NM_001105206.3(LAMA4):c.521A>G (p.Tyr174Cys)
|
rs202131320
|
0.00012
|
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu)
|
rs200177134
|
0.00012
|
NM_001267550.2(TTN):c.107082G>A (p.Leu35694=)
|
rs727505278
|
0.00012
|
NM_001267550.2(TTN):c.23926G>A (p.Val7976Ile)
|
rs200395305
|
0.00012
|
NM_001267550.2(TTN):c.71911T>C (p.Trp23971Arg)
|
rs373717147
|
0.00012
|
NM_001943.5(DSG2):c.3283C>A (p.His1095Asn)
|
rs140193292
|
0.00012
|
NM_001943.5(DSG2):c.81+17A>G
|
rs547399759
|
0.00012
|
NM_002471.4(MYH6):c.115G>A (p.Val39Met)
|
rs142850511
|
0.00012
|
NM_002471.4(MYH6):c.3893C>T (p.Ala1298Val)
|
rs368588052
|
0.00012
|
NM_003673.4(TCAP):c.209G>A (p.Arg70Gln)
|
rs552865793
|
0.00012
|
NM_006172.4(NPPA):c.197C>T (p.Pro66Leu)
|
rs150794709
|
0.00012
|
NM_014000.3(VCL):c.*212C>A
|
rs757322860
|
0.00012
|
NM_020297.4(ABCC9):c.2339+13A>G
|
rs189255166
|
0.00012
|
NM_032578.4(MYPN):c.3913A>G (p.Met1305Val)
|
rs730880170
|
0.00012
|
NM_170707.4(LMNA):c.811-12C>T
|
rs372962650
|
0.00012
|
NM_000117.3(EMD):c.598T>C (p.Trp200Arg)
|
rs374981936
|
0.00011
|
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser)
|
rs364897
|
0.00011
|
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr)
|
rs202045534
|
0.00011
|
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys)
|
rs752200396
|
0.00011
|
NM_000256.3(MYBPC3):c.3323A>C (p.Lys1108Thr)
|
rs397516015
|
0.00011
|
NM_000256.3(MYBPC3):c.598A>G (p.Ser200Gly)
|
rs370554185
|
0.00011
|
NM_000257.4(MYH7):c.3982G>A (p.Ala1328Thr)
|
rs372727092
|
0.00011
|
NM_000257.4(MYH7):c.5656-4G>A
|
rs397516250
|
0.00011
|
NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln)
|
rs191009474
|
0.00011
|
NM_000335.5(SCN5A):c.1333C>G (p.His445Asp)
|
rs199473112
|
0.00011
|
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile)
|
rs199473341
|
0.00011
|
NM_000337.6(SGCD):c.*2139C>T
|
rs889080445
|
0.00011
|
NM_000337.6(SGCD):c.191T>C (p.Ile64Thr)
|
rs376780156
|
0.00011
|
NM_000447.3(PSEN2):c.1177G>A (p.Val393Met)
|
rs142690225
|
0.00011
|
NM_001042475.3(CEP85L):c.1020+5442A>T
|
rs528466147
|
0.00011
|
NM_001079802.2(FKTN):c.*2508G>T
|
rs886063330
|
0.00011
|
NM_001079802.2(FKTN):c.*3547C>T
|
rs886063336
|
0.00011
|
NM_001105206.3(LAMA4):c.1788C>A (p.Asp596Glu)
|
rs145986920
|
0.00011
|
NM_001105206.3(LAMA4):c.2719G>A (p.Val907Ile)
|
rs138030555
|
0.00011
|
NM_001105206.3(LAMA4):c.3283-3C>G
|
rs374159760
|
0.00011
|
NM_001105206.3(LAMA4):c.5345G>A (p.Arg1782His)
|
rs782638314
|
0.00011
|
NM_001105206.3(LAMA4):c.952A>G (p.Ile318Val)
|
rs141372605
|
0.00011
|
NM_001134363.3(RBM20):c.1275+8G>T
|
rs727505318
|
0.00011
|
NM_001134363.3(RBM20):c.3044C>T (p.Thr1015Ile)
|
rs183770014
|
0.00011
|
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr)
|
rs397516622
|
0.00011
|
NM_001159699.2(FHL1):c.787G>A (p.Asp263Asn)
|
rs754308516
|
0.00011
|
NM_001232.3(CASQ2):c.-225G>A
|
rs535999427
|
0.00011
|
NM_001267550.2(TTN):c.100766-11T>C
|
rs761345673
|
0.00011
|
NM_001267550.2(TTN):c.12412A>G (p.Ile4138Val)
|
rs377290301
|
0.00011
|
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp)
|
rs397517500
|
0.00011
|
NM_001267550.2(TTN):c.25063+18C>T
|
rs541890371
|
0.00011
|
NM_001267550.2(TTN):c.30598G>C (p.Glu10200Gln)
|
rs779015756
|
0.00011
|
NM_001267550.2(TTN):c.56693G>A (p.Arg18898His)
|
rs572453785
|
0.00011
|
NM_001267550.2(TTN):c.59489A>G (p.Lys19830Arg)
|
rs764259290
|
0.00011
|
NM_001267550.2(TTN):c.73770T>C (p.Tyr24590=)
|
rs201380749
|
0.00011
|
NM_001267550.2(TTN):c.7618C>T (p.Arg2540Cys)
|
rs368574470
|
0.00011
|
NM_001267550.2(TTN):c.78063C>T (p.Pro26021=)
|
rs72648204
|
0.00011
|
NM_001267550.2(TTN):c.95083G>A (p.Gly31695Arg)
|
rs376403373
|
0.00011
|
NM_001267550.2(TTN):c.97433A>C (p.Asn32478Thr)
|
rs876658096
|
0.00011
|
NM_001927.4(DES):c.407T>A (p.Leu136His)
|
rs397516695
|
0.00011
|
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser)
|
rs375679311
|
0.00011
|
NM_001943.5(DSG2):c.2506C>G (p.Leu836Val)
|
rs767979763
|
0.00011
|
NM_002230.4(JUP):c.352G>A (p.Glu118Lys)
|
rs149004293
|
0.00011
|
NM_002471.4(MYH6):c.2097C>T (p.Gly699=)
|
rs149734381
|
0.00011
|
NM_002471.4(MYH6):c.2805C>T (p.Asn935=)
|
rs757958461
|
0.00011
|
NM_002471.4(MYH6):c.2929-3C>T
|
rs376752266
|
0.00011
|
NM_002471.4(MYH6):c.2973C>T (p.Ile991=)
|
rs374807345
|
0.00011
|
NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg)
|
rs373629059
|
0.00011
|
NM_002471.4(MYH6):c.7G>A (p.Asp3Asn)
|
rs371667049
|
0.00011
|
NM_002834.5(PTPN11):c.1224+15G>A
|
rs373271861
|
0.00011
|
NM_002834.5(PTPN11):c.558G>T (p.Arg186=)
|
rs200920312
|
0.00011
|
NM_003239.5(TGFB3):c.757G>A (p.Val253Met)
|
rs532517095
|
0.00011
|
NM_003476.5(CSRP3):c.544G>C (p.Gly182Arg)
|
rs111868331
|
0.00011
|
NM_003803.4(MYOM1):c.1168C>T (p.Leu390Phe)
|
rs758497000
|
0.00011
|
NM_004006.3(DMD):c.295A>G (p.Ile99Val)
|
rs149428656
|
0.00011
|
NM_004281.4(BAG3):c.508C>T (p.Arg170Trp)
|
rs200479768
|
0.00011
|
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser)
|
rs181378432
|
0.00011
|
NM_005343.4(HRAS):c.330C>T (p.Pro110=)
|
rs200747280
|
0.00011
|
NM_005633.4(SOS1):c.3357C>T (p.Thr1119=)
|
rs373319212
|
0.00011
|
NM_006073.4(TRDN):c.23-19T>G
|
rs370102595
|
0.00011
|
NM_006206.6(PDGFRA):c.2965A>G (p.Ile989Val)
|
rs145019788
|
0.00011
|
NM_013266.4(CTNNA3):c.1231A>G (p.Ile411Val)
|
rs372808360
|
0.00011
|
NM_013266.4(CTNNA3):c.1303A>G (p.Met435Val)
|
rs377404952
|
0.00011
|
NM_013266.4(CTNNA3):c.1628G>A (p.Arg543Gln)
|
rs369033938
|
0.00011
|
NM_021167.5(GATAD1):c.512G>A (p.Arg171Lys)
|
rs540654499
|
0.00011
|
NM_024334.3(TMEM43):c.91G>A (p.Glu31Lys)
|
rs754536393
|
0.00011
|
NM_032578.4(MYPN):c.1012C>T (p.Arg338Cys)
|
rs140037748
|
0.00011
|
NM_032578.4(MYPN):c.2742T>C (p.Asn914=)
|
rs372375235
|
0.00011
|
NM_032578.4(MYPN):c.3848G>A (p.Arg1283His)
|
rs372512501
|
0.00011
|
NM_033337.3(CAV3):c.125A>C (p.Glu42Ala)
|
rs137901165
|
0.00011
|
NM_033360.4(KRAS):c.90C>T (p.Asp30=)
|
rs113623140
|
0.00011
|
NM_133379.5(TTN):c.13412G>C (p.Gly4471Ala)
|
rs145919543
|
0.00011
|
NM_182961.4(SYNE1):c.11429C>T (p.Thr3810Met)
|
rs375577011
|
0.00011
|
NM_206937.2(LIG4):c.1705A>G (p.Met569Val)
|
rs774699419
|
0.00011
|
NM_000152.5(GAA):c.725C>A (p.Ala242Glu)
|
rs745861849
|
0.00010
|
NM_000152.5(GAA):c.851C>G (p.Ala284Gly)
|
rs147569830
|
0.00010
|
NM_000232.5(SGCB):c.785T>C (p.Met262Thr)
|
rs201923065
|
0.00010
|
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro)
|
rs372731424
|
0.00010
|
NM_000335.5(SCN5A):c.1597C>T (p.Arg533Cys)
|
rs775576991
|
0.00010
|
NM_000337.6(SGCD):c.*5467G>C
|
rs749139391
|
0.00010
|
NM_000337.6(SGCD):c.*8380A>G
|
rs556296196
|
0.00010
|
NM_000337.6(SGCD):c.3+11C>T
|
rs374790317
|
0.00010
|
NM_000371.4(TTR):c.140A>G (p.Asn47Ser)
|
rs145551875
|
0.00010
|
NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly)
|
rs200574919
|
0.00010
|
NM_001035.3(RYR2):c.8590+4A>G
|
rs778964264
|
0.00010
|
NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr)
|
rs375482798
|
0.00010
|
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu)
|
rs139489232
|
0.00010
|
NM_001105206.3(LAMA4):c.1390C>G (p.His464Asp)
|
rs151119304
|
0.00010
|
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val)
|
rs397516608
|
0.00010
|
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn)
|
rs368007942
|
0.00010
|
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys)
|
rs371552518
|
0.00010
|
NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser)
|
rs571231816
|
0.00010
|
NM_001267550.2(TTN):c.3469G>A (p.Val1157Ile)
|
rs397517566
|
0.00010
|
NM_001267550.2(TTN):c.40250C>T (p.Pro13417Leu)
|
rs537578226
|
0.00010
|
NM_001267550.2(TTN):c.4228G>C (p.Val1410Leu)
|
rs576593161
|
0.00010
|
NM_001267550.2(TTN):c.50297G>A (p.Arg16766Gln)
|
rs747224934
|
0.00010
|
NM_001267550.2(TTN):c.5577G>T (p.Arg1859Ser)
|
rs551538420
|
0.00010
|
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile)
|
rs369476725
|
0.00010
|
NM_001267550.2(TTN):c.63116A>C (p.Lys21039Thr)
|
rs886038878
|
0.00010
|
NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val)
|
rs199583938
|
0.00010
|
NM_001267550.2(TTN):c.8185G>A (p.Glu2729Lys)
|
rs763702243
|
0.00010
|
NM_001267550.2(TTN):c.82061T>G (p.Val27354Gly)
|
rs368023868
|
0.00010
|
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln)
|
rs200639218
|
0.00010
|
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val)
|
rs200516164
|
0.00010
|
NM_001943.5(DSG2):c.523+20T>C
|
rs775127367
|
0.00010
|
NM_002230.4(JUP):c.-55C>T
|
rs886052921
|
0.00010
|
NM_002230.4(JUP):c.608G>A (p.Arg203His)
|
rs200221163
|
0.00010
|
NM_002471.4(MYH6):c.161G>A (p.Arg54Gln)
|
rs727503239
|
0.00010
|
NM_002471.4(MYH6):c.1662C>T (p.Tyr554=)
|
rs374114140
|
0.00010
|
NM_002471.4(MYH6):c.3346C>A (p.Arg1116Ser)
|
rs372446459
|
0.00010
|
NM_002471.4(MYH6):c.420C>T (p.Ala140=)
|
rs145023897
|
0.00010
|
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu)
|
rs267607124
|
0.00010
|
NM_003673.3(TCAP):c.-13A>G
|
rs368175926
|
0.00010
|
NM_003673.4(TCAP):c.*292G>A
|
rs185210946
|
0.00010
|
NM_003673.4(TCAP):c.223G>A (p.Gly75Ser)
|
rs753744791
|
0.00010
|
NM_004006.3(DMD):c.5048C>G (p.Thr1683Ser)
|
rs146420425
|
0.00010
|
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu)
|
rs751361395
|
0.00010
|
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp)
|
rs144641271
|
0.00010
|
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)
|
rs149513743
|
0.00010
|
NM_004453.4(ETFDH):c.1603G>T (p.Ala535Ser)
|
rs748346465
|
0.00010
|
NM_006073.4(TRDN):c.125C>T (p.Thr42Met)
|
rs371627659
|
0.00010
|
NM_006172.4(NPPA):c.375G>A (p.Leu125=)
|
rs765926210
|
0.00010
|
NM_014000.3(VCL):c.*1761A>G
|
rs886047230
|
0.00010
|
NM_014000.3(VCL):c.688C>T (p.Arg230Cys)
|
rs139312390
|
0.00010
|
NM_014000.3(VCL):c.829C>A (p.Leu277Met)
|
rs71579353
|
0.00010
|
NM_014908.4(DOLK):c.898C>T (p.Leu300Phe)
|
rs371529625
|
0.00010
|
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile)
|
rs397517270
|
0.00010
|
NM_020433.5(JPH2):c.1732C>A (p.Pro578Thr)
|
rs746846724
|
0.00010
|
NM_024422.6(DSC2):c.1844C>A (p.Ser615Tyr)
|
rs756304120
|
0.00010
|
NM_032578.4(MYPN):c.251A>G (p.Asn84Ser)
|
rs768968410
|
0.00010
|
NM_032578.4(MYPN):c.259C>G (p.Pro87Ala)
|
rs376945733
|
0.00010
|
NM_032578.4(MYPN):c.2864G>A (p.Arg955Gln)
|
rs199476414
|
0.00010
|
NM_145046.5(CALR3):c.1069G>A (p.Glu357Lys)
|
rs777429499
|
0.00010
|
NM_170707.4(LMNA):c.1202G>A (p.Arg401His)
|
rs141490569
|
0.00010
|
NM_000021.4(PSEN1):c.1377A>G (p.Gln459=)
|
rs201496204
|
0.00009
|
NM_000152.5(GAA):c.1630G>A (p.Val544Met)
|
rs567695610
|
0.00009
|
NM_000152.5(GAA):c.1979G>A (p.Arg660His)
|
rs374143224
|
0.00009
|
NM_000152.5(GAA):c.546+6C>T
|
rs375727055
|
0.00009
|
NM_000152.5(GAA):c.664G>A (p.Val222Met)
|
rs374569672
|
0.00009
|
NM_000218.3(KCNQ1):c.1458C>T (p.Ala486=)
|
rs200275211
|
0.00009
|
NM_000256.3(MYBPC3):c.3412C>T (p.Arg1138Cys)
|
rs377171707
|
0.00009
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys)
|
rs139646545
|
0.00009
|
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)
|
rs727504355
|
0.00009
|
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)
|
rs200939753
|
0.00009
|
NM_000257.4(MYH7):c.5559+5G>A
|
rs371177871
|
0.00009
|
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His)
|
rs146848219
|
0.00009
|
NM_000335.5(SCN5A):c.1889C>T (p.Thr630Met)
|
rs777061524
|
0.00009
|
NM_000335.5(SCN5A):c.2066G>A (p.Arg689His)
|
rs199473145
|
0.00009
|
NM_000335.5(SCN5A):c.368C>T (p.Ala123Val)
|
rs765699394
|
0.00009
|
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)
|
rs199473278
|
0.00009
|
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp)
|
rs45465995
|
0.00009
|
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp)
|
rs199473072
|
0.00009
|
NM_000337.6(SGCD):c.160A>G (p.Ile54Val)
|
rs200671745
|
0.00009
|
NM_000432.4(MYL2):c.359G>A (p.Arg120Gln)
|
rs192057022
|
0.00009
|
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr)
|
rs776059398
|
0.00009
|
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn)
|
rs200947767
|
0.00009
|
NM_001018005.2(TPM1):c.829G>A (p.Ala277Thr)
|
rs149659674
|
0.00009
|
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln)
|
rs727503404
|
0.00009
|
NM_001035.3(RYR2):c.5600A>C (p.Glu1867Ala)
|
rs539021736
|
0.00009
|
NM_001134363.3(RBM20):c.3595G>A (p.Glu1199Lys)
|
rs777768807
|
0.00009
|
NM_001232.4(CASQ2):c.*457C>T
|
rs375002557
|
0.00009
|
NM_001232.4(CASQ2):c.235C>T (p.Leu79Phe)
|
rs771298193
|
0.00009
|
NM_001267550.2(TTN):c.105037C>T (p.Arg35013Cys)
|
rs568460311
|
0.00009
|
NM_001267550.2(TTN):c.107688G>A (p.Pro35896=)
|
rs542575761
|
0.00009
|
NM_001267550.2(TTN):c.16825G>A (p.Glu5609Lys)
|
rs374682077
|
0.00009
|
NM_001267550.2(TTN):c.17437T>A (p.Cys5813Ser)
|
rs368692616
|
0.00009
|
NM_001267550.2(TTN):c.25557C>T (p.Gly8519=)
|
rs372320172
|
0.00009
|
NM_001267550.2(TTN):c.29325C>T (p.Asn9775=)
|
rs377442695
|
0.00009
|
NM_001267550.2(TTN):c.30355G>C (p.Glu10119Gln)
|
rs778565859
|
0.00009
|
NM_001267550.2(TTN):c.31391G>A (p.Arg10464Gln)
|
rs727504757
|
0.00009
|
NM_001267550.2(TTN):c.34778C>T (p.Pro11593Leu)
|
rs199975096
|
0.00009
|
NM_001267550.2(TTN):c.36159G>A (p.Thr12053=)
|
rs773862719
|
0.00009
|
NM_001267550.2(TTN):c.47705G>A (p.Gly15902Glu)
|
rs561284948
|
0.00009
|
NM_001267550.2(TTN):c.49363A>G (p.Thr16455Ala)
|
rs374543277
|
0.00009
|
NM_001267550.2(TTN):c.51642G>C (p.Glu17214Asp)
|
rs372443762
|
0.00009
|
NM_001267550.2(TTN):c.53903G>A (p.Arg17968His)
|
rs200100660
|
0.00009
|
NM_001267550.2(TTN):c.71104G>T (p.Gly23702Trp)
|
rs750853901
|
0.00009
|
NM_001267550.2(TTN):c.88407G>A (p.Ala29469=)
|
rs531445644
|
0.00009
|
NM_001267550.2(TTN):c.90642A>T (p.Ala30214=)
|
rs552314114
|
0.00009
|
NM_001267550.2(TTN):c.92831G>A (p.Arg30944His)
|
rs755972883
|
0.00009
|
NM_001267550.2(TTN):c.94827C>T (p.Tyr31609=)
|
rs771635198
|
0.00009
|
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr)
|
rs201023432
|
0.00009
|
NM_001386795.1(DTNA):c.371A>G (p.His124Arg)
|
rs150147476
|
0.00009
|
NM_001458.5(FLNC):c.1205C>T (p.Thr402Ile)
|
rs374757755
|
0.00009
|
NM_001458.5(FLNC):c.1605C>T (p.Cys535=)
|
rs199976790
|
0.00009
|
NM_001458.5(FLNC):c.1606G>A (p.Glu536Lys)
|
rs141616435
|
0.00009
|
NM_001458.5(FLNC):c.5128G>A (p.Glu1710Lys)
|
rs200077114
|
0.00009
|
NM_001458.5(FLNC):c.5410A>T (p.Met1804Leu)
|
rs201949844
|
0.00009
|
NM_001458.5(FLNC):c.643G>A (p.Val215Met)
|
rs754309921
|
0.00009
|
NM_001458.5(FLNC):c.7450G>A (p.Gly2484Ser)
|
rs778922568
|
0.00009
|
NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile)
|
rs727504770
|
0.00009
|
NM_002230.3(JUP):c.*1136C>T
|
rs539534709
|
0.00009
|
NM_002230.4(JUP):c.1862T>C (p.Ile621Thr)
|
rs752594411
|
0.00009
|
NM_002230.4(JUP):c.578T>C (p.Met193Thr)
|
rs139496777
|
0.00009
|
NM_002471.4(MYH6):c.203C>T (p.Thr68Met)
|
rs751285148
|
0.00009
|
NM_002471.4(MYH6):c.2554G>A (p.Ala852Thr)
|
rs776971183
|
0.00009
|
NM_002471.4(MYH6):c.3118C>T (p.Leu1040=)
|
rs368497504
|
0.00009
|
NM_002471.4(MYH6):c.3612G>C (p.Glu1204Asp)
|
rs751153777
|
0.00009
|
NM_002471.4(MYH6):c.4828C>T (p.Arg1610Cys)
|
rs780726611
|
0.00009
|
NM_002471.4(MYH6):c.4833C>T (p.Asn1611=)
|
rs139329956
|
0.00009
|
NM_002880.4(RAF1):c.834+598G>A
|
rs375404697
|
0.00009
|
NM_003476.5(CSRP3):c.190C>T (p.Arg64Cys)
|
rs368392588
|
0.00009
|
NM_003476.5(CSRP3):c.272A>T (p.Gln91Leu)
|
rs727504436
|
0.00009
|
NM_003476.5(CSRP3):c.379G>A (p.Val127Ile)
|
rs149201422
|
0.00009
|
NM_003476.5(CSRP3):c.49G>A (p.Val17Ile)
|
rs767932680
|
0.00009
|
NM_003673.4(TCAP):c.388C>T (p.Arg130Cys)
|
rs374886575
|
0.00009
|
NM_003673.4(TCAP):c.448G>A (p.Gly150Ser)
|
rs762850913
|
0.00009
|
NM_003673.4(TCAP):c.97C>T (p.Arg33Trp)
|
rs145524909
|
0.00009
|
NM_004006.3(DMD):c.-75G>A
|
rs778938887
|
0.00009
|
NM_004006.3(DMD):c.6409G>C (p.Glu2137Gln)
|
rs1023328955
|
0.00009
|
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln)
|
rs199844384
|
0.00009
|
NM_004281.4(BAG3):c.605C>T (p.Pro202Leu)
|
rs556000090
|
0.00009
|
NM_004281.4(BAG3):c.616A>C (p.Ile206Leu)
|
rs199700646
|
0.00009
|
NM_004333.6(BRAF):c.1993-11T>C
|
rs750297886
|
0.00009
|
NM_004333.6(BRAF):c.399A>G (p.Ser133=)
|
rs397507463
|
0.00009
|
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe)
|
rs372922674
|
0.00009
|
NM_005138.3(SCO2):c.784C>T (p.Arg262Cys)
|
rs201174948
|
0.00009
|
NM_005633.4(SOS1):c.*1641A>G
|
rs760193823
|
0.00009
|
NM_005633.4(SOS1):c.7G>T (p.Ala3Ser)
|
rs533757634
|
0.00009
|
NM_006073.4(TRDN):c.727A>G (p.Thr243Ala)
|
rs376208769
|
0.00009
|
NM_007078.3(LDB3):c.1487T>C (p.Phe496Ser)
|
rs147072071
|
0.00009
|
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu)
|
rs145983824
|
0.00009
|
NM_007373.4(SHOC2):c.355A>G (p.Ile119Val)
|
rs147068827
|
0.00009
|
NM_013266.4(CTNNA3):c.1979C>T (p.Ala660Val)
|
rs778640435
|
0.00009
|
NM_020774.4(MIB1):c.2716C>T (p.Arg906Ter)
|
rs201146927
|
0.00009
|
NM_022114.4(PRDM16):c.1958T>C (p.Leu653Ser)
|
rs371011963
|
0.00009
|
NM_024334.3(TMEM43):c.865G>A (p.Gly289Arg)
|
rs730880226
|
0.00009
|
NM_024422.6(DSC2):c.-25C>G
|
rs904308285
|
0.00009
|
NM_030662.4(MAP2K2):c.919+4C>T
|
rs763424788
|
0.00009
|
NM_133379.5(TTN):c.11699T>C (p.Ile3900Thr)
|
rs144799515
|
0.00009
|
NM_144573.4(NEXN):c.392A>G (p.Gln131Arg)
|
rs397517858
|
0.00009
|
NM_170707.4(LMNA):c.1390A>G (p.Met464Val)
|
rs200262654
|
0.00009
|
NM_182914.3(SYNE2):c.3830G>A (p.Arg1277His)
|
rs367549881
|
0.00009
|
NM_182961.4(SYNE1):c.14902G>A (p.Ala4968Thr)
|
rs745978878
|
0.00009
|
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)
|
rs119458970
|
0.00008
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
NM_000231.3(SGCG):c.142G>A (p.Val48Ile)
|
rs369936288
|
0.00008
|
NM_000335.5(SCN5A):c.2963G>A (p.Arg988Gln)
|
rs759584454
|
0.00008
|
NM_000335.5(SCN5A):c.86C>T (p.Ala29Val)
|
rs562675882
|
0.00008
|
NM_000337.6(SGCD):c.*1047C>T
|
rs999149586
|
0.00008
|
NM_000337.6(SGCD):c.*7298A>C
|
rs886060321
|
0.00008
|
NM_000337.6(SGCD):c.*7507A>G
|
rs75641902
|
0.00008
|
NM_000337.6(SGCD):c.-59G>A
|
rs375477247
|
0.00008
|
NM_000337.6(SGCD):c.566A>G (p.Lys189Arg)
|
rs538002169
|
0.00008
|
NM_000371.4(TTR):c.*143G>C
|
rs545271394
|
0.00008
|
NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr)
|
rs375021201
|
0.00008
|
NM_001035.3(RYR2):c.1318G>A (p.Ala440Thr)
|
rs371878264
|
0.00008
|
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His)
|
rs371157286
|
0.00008
|
NM_001035.3(RYR2):c.6445A>G (p.Ile2149Val)
|
rs767258350
|
0.00008
|
NM_001079802.2(FKTN):c.1102T>C (p.Phe368Leu)
|
rs374381691
|
0.00008
|
NM_001105206.3(LAMA4):c.1522G>A (p.Ala508Thr)
|
rs139730568
|
0.00008
|
NM_001105206.3(LAMA4):c.221C>A (p.Thr74Asn)
|
rs782226255
|
0.00008
|
NM_001105206.3(LAMA4):c.2599C>A (p.Pro867Thr)
|
rs782162498
|
0.00008
|
NM_001105206.3(LAMA4):c.4199A>G (p.Tyr1400Cys)
|
rs782041997
|
0.00008
|
NM_001105206.3(LAMA4):c.4715T>G (p.Leu1572Arg)
|
rs782367093
|
0.00008
|
NM_001134363.3(RBM20):c.*941C>T
|
rs548271514
|
0.00008
|
NM_001134363.3(RBM20):c.1858G>A (p.Asp620Asn)
|
rs541330074
|
0.00008
|
NM_001134363.3(RBM20):c.3616G>A (p.Glu1206Lys)
|
rs757389650
|
0.00008
|
NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys)
|
rs151115064
|
0.00008
|
NM_001232.4(CASQ2):c.758G>A (p.Arg253His)
|
rs199571249
|
0.00008
|
NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn)
|
rs368165922
|
0.00008
|
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile)
|
rs200782068
|
0.00008
|
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu)
|
rs772957495
|
0.00008
|
NM_001267550.2(TTN):c.16156A>G (p.Met5386Val)
|
rs567457007
|
0.00008
|
NM_001267550.2(TTN):c.33650C>T (p.Ala11217Val)
|
rs750612476
|
0.00008
|
NM_001267550.2(TTN):c.47836T>C (p.Ser15946Pro)
|
rs369663023
|
0.00008
|
NM_001267550.2(TTN):c.48556C>T (p.Arg16186Cys)
|
rs377563403
|
0.00008
|
NM_001267550.2(TTN):c.49000G>A (p.Val16334Met)
|
rs541384076
|
0.00008
|
NM_001267550.2(TTN):c.51247G>T (p.Val17083Phe)
|
rs746817480
|
0.00008
|
NM_001267550.2(TTN):c.57559G>A (p.Val19187Ile)
|
rs764203267
|
0.00008
|
NM_001267550.2(TTN):c.65416C>T (p.Arg21806Trp)
|
rs778703530
|
0.00008
|
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His)
|
rs374615369
|
0.00008
|
NM_001267550.2(TTN):c.79519G>A (p.Ala26507Thr)
|
rs554718474
|
0.00008
|
NM_001267550.2(TTN):c.85334G>A (p.Cys28445Tyr)
|
rs773226749
|
0.00008
|
NM_001267550.2(TTN):c.92167C>T (p.Pro30723Ser)
|
rs758537709
|
0.00008
|
NM_001458.5(FLNC):c.2602A>G (p.Ser868Gly)
|
rs201002262
|
0.00008
|
NM_001458.5(FLNC):c.5216C>T (p.Pro1739Leu)
|
rs745650222
|
0.00008
|
NM_001458.5(FLNC):c.7434C>T (p.Ile2478=)
|
rs773767211
|
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_002230.4(JUP):c.809T>A (p.Leu270Gln)
|
rs794729040
|
0.00008
|
NM_002471.4(MYH6):c.1141+11C>T
|
rs373521230
|
0.00008
|
NM_002471.4(MYH6):c.3274C>G (p.Gln1092Glu)
|
rs567433969
|
0.00008
|
NM_002471.4(MYH6):c.3604G>A (p.Val1202Met)
|
rs368451573
|
0.00008
|
NM_002471.4(MYH6):c.4016G>A (p.Arg1339Gln)
|
rs766238876
|
0.00008
|
NM_002880.4(RAF1):c.-264C>G
|
rs894363344
|
0.00008
|
NM_003239.5(TGFB3):c.101A>G (p.His34Arg)
|
rs199791687
|
0.00008
|
NM_003239.5(TGFB3):c.97G>A (p.Gly33Ser)
|
rs781353815
|
0.00008
|
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe)
|
rs377470390
|
0.00008
|
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp)
|
rs387906874
|
0.00008
|
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe)
|
rs1431507005
|
0.00008
|
NM_004415.4(DSP):c.888C>T (p.Tyr296=)
|
rs149701627
|
0.00008
|
NM_005633.4(SOS1):c.*1477G>A
|
rs1029291502
|
0.00008
|
NM_005633.4(SOS1):c.*421A>G
|
rs973373222
|
0.00008
|
NM_006073.4(TRDN):c.1137T>G (p.Asp379Glu)
|
rs200706450
|
0.00008
|
NM_007078.3(LDB3):c.1676G>A (p.Arg559Gln)
|
rs763908636
|
0.00008
|
NM_014000.3(VCL):c.1490T>C (p.Ile497Thr)
|
rs572757800
|
0.00008
|
NM_014000.3(VCL):c.1621C>G (p.Leu541Val)
|
rs370229150
|
0.00008
|
NM_014000.3(VCL):c.2444A>G (p.Lys815Arg)
|
rs373010557
|
0.00008
|
NM_020433.5(JPH2):c.829G>T (p.Ala277Ser)
|
rs368516996
|
0.00008
|
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met)
|
rs544554435
|
0.00008
|
NM_024334.3(TMEM43):c.798G>A (p.Arg266=)
|
rs139078900
|
0.00008
|
NM_024422.6(DSC2):c.295T>A (p.Ser99Thr)
|
rs199714872
|
0.00008
|
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys)
|
rs762556795
|
0.00008
|
NM_024422.6(DSC2):c.596G>A (p.Arg199His)
|
rs374707462
|
0.00008
|
NM_032578.4(MYPN):c.757G>C (p.Gly253Arg)
|
rs201983087
|
0.00008
|
NM_170707.4(LMNA):c.1381-5G>A
|
rs730880133
|
0.00008
|
NM_170707.4(LMNA):c.1488+6T>G
|
rs369642101
|
0.00008
|
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met)
|
rs765594825
|
0.00008
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser)
|
rs372786811
|
0.00007
|
NM_000152.5(GAA):c.1504A>G (p.Met502Val)
|
rs376067362
|
0.00007
|
NM_000152.5(GAA):c.658G>T (p.Val220Leu)
|
rs530478036
|
0.00007
|
NM_000152.5(GAA):c.857C>T (p.Thr286Met)
|
rs375310352
|
0.00007
|
NM_000218.3(KCNQ1):c.136G>A (p.Ala46Thr)
|
rs199473671
|
0.00007
|
NM_000218.3(KCNQ1):c.493G>A (p.Val165Met)
|
rs1085307580
|
0.00007
|
NM_000231.3(SGCG):c.792C>G (p.Ile264Met)
|
rs377620885
|
0.00007
|
NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln)
|
rs727504378
|
0.00007
|
NM_000256.3(MYBPC3):c.2765G>A (p.Gly922Glu)
|
rs751224775
|
0.00007
|
NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg)
|
rs202147520
|
0.00007
|
NM_000335.5(SCN5A):c.3118G>A (p.Gly1040Arg)
|
rs199473186
|
0.00007
|
NM_000371.4(TTR):c.280G>C (p.Asp94His)
|
rs730881164
|
0.00007
|
NM_001035.3(RYR2):c.5822G>A (p.Arg1941His)
|
rs373600053
|
0.00007
|
NM_001103.4(ACTN2):c.*1001T>A
|
rs902731297
|
0.00007
|
NM_001103.4(ACTN2):c.*1645C>G
|
rs577833572
|
0.00007
|
NM_001105206.3(LAMA4):c.1858G>A (p.Ala620Thr)
|
rs374001056
|
0.00007
|
NM_001105206.3(LAMA4):c.196-11G>A
|
rs374364713
|
0.00007
|
NM_001122630.2(CDKN1C):c.853C>T (p.Pro285Ser)
|
rs531059713
|
0.00007
|
NM_001134363.3(RBM20):c.*1452T>C
|
rs906770120
|
0.00007
|
NM_001232.4(CASQ2):c.475G>A (p.Glu159Lys)
|
rs375598471
|
0.00007
|
NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr)
|
rs148057999
|
0.00007
|
NM_001267550.2(TTN):c.13700A>G (p.Asp4567Gly)
|
rs745641339
|
0.00007
|
NM_001267550.2(TTN):c.32569A>G (p.Lys10857Glu)
|
rs372878566
|
0.00007
|
NM_001267550.2(TTN):c.40141+6C>T
|
rs750448649
|
0.00007
|
NM_001267550.2(TTN):c.40688C>T (p.Thr13563Ile)
|
rs780572853
|
0.00007
|
NM_001267550.2(TTN):c.44588C>T (p.Thr14863Met)
|
rs759406486
|
0.00007
|
NM_001267550.2(TTN):c.47693G>A (p.Arg15898Gln)
|
rs376278449
|
0.00007
|
NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro)
|
rs375000725
|
0.00007
|
NM_001267550.2(TTN):c.64326G>A (p.Ala21442=)
|
rs377109969
|
0.00007
|
NM_001267550.2(TTN):c.72331G>C (p.Ala24111Pro)
|
rs369671334
|
0.00007
|
NM_001267550.2(TTN):c.78980G>A (p.Arg26327Gln)
|
rs370367786
|
0.00007
|
NM_001267550.2(TTN):c.9571C>G (p.Gln3191Glu)
|
rs33997263
|
0.00007
|
NM_001267550.2(TTN):c.98243G>A (p.Arg32748His)
|
rs397517775
|
0.00007
|
NM_001458.5(FLNC):c.1142G>A (p.Arg381His)
|
rs776469396
|
0.00007
|
NM_001927.4(DES):c.193G>A (p.Gly65Ser)
|
rs397516692
|
0.00007
|
NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile)
|
rs769137357
|
0.00007
|
NM_001943.5(DSG2):c.3195T>C (p.Thr1065=)
|
rs544981484
|
0.00007
|
NM_002230.4(JUP):c.2030C>T (p.Pro677Leu)
|
rs782622653
|
0.00007
|
NM_002230.4(JUP):c.427G>A (p.Ala143Thr)
|
rs375788626
|
0.00007
|
NM_002230.4(JUP):c.526C>T (p.Arg176Trp)
|
rs368336007
|
0.00007
|
NM_002230.4(JUP):c.529C>T (p.Arg177Trp)
|
rs148484473
|
0.00007
|
NM_002230.4(JUP):c.56C>T (p.Thr19Ile)
|
rs570878629
|
0.00007
|
NM_002471.4(MYH6):c.1244G>C (p.Gly415Ala)
|
rs759520932
|
0.00007
|
NM_002471.4(MYH6):c.3808C>T (p.Arg1270Cys)
|
rs371849826
|
0.00007
|
NM_002471.4(MYH6):c.5501G>A (p.Arg1834His)
|
rs202132499
|
0.00007
|
NM_002471.4(MYH6):c.642+4C>T
|
rs369858520
|
0.00007
|
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)
|
rs397516797
|
0.00007
|
NM_004006.3(DMD):c.8053G>A (p.Glu2685Lys)
|
rs748937055
|
0.00007
|
NM_004006.3(DMD):c.9580A>C (p.Ile3194Leu)
|
rs181517869
|
0.00007
|
NM_004100.5(EYA4):c.148A>T (p.Ser50Cys)
|
rs932450184
|
0.00007
|
NM_004281.4(BAG3):c.892G>A (p.Val298Met)
|
rs150048651
|
0.00007
|
NM_004333.6(BRAF):c.1694+13C>T
|
rs368578780
|
0.00007
|
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu)
|
rs747580402
|
0.00007
|
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg)
|
rs139673146
|
0.00007
|
NM_004415.4(DSP):c.8172G>T (p.Gln2724His)
|
rs372569211
|
0.00007
|
NM_004453.4(ETFDH):c.1733G>A (p.Arg578Gln)
|
rs200290334
|
0.00007
|
NM_004453.4(ETFDH):c.424G>A (p.Val142Ile)
|
rs146982178
|
0.00007
|
NM_004453.4(ETFDH):c.51dup (p.Ala18fs)
|
rs796051964
|
0.00007
|
NM_005343.4(HRAS):c.506G>A (p.Arg169Gln)
|
rs142218590
|
0.00007
|
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)
|
rs189150283
|
0.00007
|
NM_007078.3(LDB3):c.1289C>A (p.Thr430Asn)
|
rs746183666
|
0.00007
|
NM_007078.3(LDB3):c.1858-11C>A
|
rs369454227
|
0.00007
|
NM_014908.4(DOLK):c.509T>G (p.Val170Gly)
|
rs745609223
|
0.00007
|
NM_020297.4(ABCC9):c.142+10C>A
|
rs138917284
|
0.00007
|
NM_021167.5(GATAD1):c.766A>G (p.Thr256Ala)
|
rs778560008
|
0.00007
|
NM_032578.4(MYPN):c.3065C>G (p.Ala1022Gly)
|
rs773991025
|
0.00007
|
NM_032578.4(MYPN):c.3103A>G (p.Met1035Val)
|
rs201975081
|
0.00007
|
NM_144573.4(NEXN):c.1190G>A (p.Arg397Gln)
|
rs201806320
|
0.00007
|
NM_144573.4(NEXN):c.157G>A (p.Glu53Lys)
|
rs373778361
|
0.00007
|
NM_144573.4(NEXN):c.1996A>G (p.Thr666Ala)
|
rs374000722
|
0.00007
|
NM_144573.4(NEXN):c.586C>T (p.Arg196Cys)
|
rs369486891
|
0.00007
|
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)
|
rs267607606
|
0.00007
|
NM_170707.4(LMNA):c.1488+7G>A
|
rs374209100
|
0.00007
|
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)
|
rs104894419
|
0.00007
|
NM_000152.5(GAA):c.1754+17G>A
|
rs769797291
|
0.00006
|
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln)
|
rs377126280
|
0.00006
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
NM_000152.5(GAA):c.359C>G (p.Ala120Gly)
|
rs779208773
|
0.00006
|
NM_000152.5(GAA):c.420C>A (p.Asn140Lys)
|
rs560661191
|
0.00006
|
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)
|
rs370950728
|
0.00006
|
NM_000152.5(GAA):c.862G>A (p.Gly288Ser)
|
rs200125735
|
0.00006
|
NM_000157.4(GBA1):c.115+1G>A
|
rs104886460
|
0.00006
|
NM_000157.4(GBA1):c.1495G>A (p.Val499Met)
|
rs369068553
|
0.00006
|
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)
|
rs80356771
|
0.00006
|
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)
|
rs75822236
|
0.00006
|
NM_000157.4(GBA1):c.84dup (p.Leu29fs)
|
rs387906315
|
0.00006
|
NM_000231.3(SGCG):c.436G>A (p.Asp146Asn)
|
rs373442790
|
0.00006
|
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)
|
rs397515912
|
0.00006
|
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)
|
rs121909374
|
0.00006
|
NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys)
|
rs397515956
|
0.00006
|
NM_000256.3(MYBPC3):c.773-18T>C
|
rs755484970
|
0.00006
|
NM_000257.4(MYH7):c.1060G>A (p.Gly354Ser)
|
rs727503270
|
0.00006
|
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met)
|
rs121913653
|
0.00006
|
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)
|
rs727503244
|
0.00006
|
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly)
|
rs369437262
|
0.00006
|
NM_000335.5(SCN5A):c.1282G>A (p.Glu428Lys)
|
rs199473111
|
0.00006
|
NM_000335.5(SCN5A):c.1855C>T (p.Leu619Phe)
|
rs199473133
|
0.00006
|
NM_000335.5(SCN5A):c.3343C>T (p.Arg1115Trp)
|
rs199473196
|
0.00006
|
NM_000335.5(SCN5A):c.6001G>A (p.Ala2001Thr)
|
rs771018427
|
0.00006
|
NM_000337.6(SGCD):c.*1990C>T
|
rs558206035
|
0.00006
|
NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn)
|
rs184709702
|
0.00006
|
NM_001005242.3(PKP2):c.1190T>A (p.Ile397Asn)
|
rs772334698
|
0.00006
|
NM_001018005.2(TPM1):c.115-335G>T
|
rs587780971
|
0.00006
|
NM_001035.3(RYR2):c.2573C>T (p.Thr858Met)
|
rs377068202
|
0.00006
|
NM_001035.3(RYR2):c.4596+4C>T
|
rs397516532
|
0.00006
|
NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met)
|
rs370331492
|
0.00006
|
NM_001035.3(RYR2):c.76G>A (p.Ala26Thr)
|
rs368974917
|
0.00006
|
NM_001035.3(RYR2):c.8416C>T (p.Arg2806Cys)
|
rs727504134
|
0.00006
|
NM_001035.3(RYR2):c.9569G>A (p.Arg3190Gln)
|
rs369276868
|
0.00006
|
NM_001079802.2(FKTN):c.929A>G (p.Asn310Ser)
|
rs776639304
|
0.00006
|
NM_001103.4(ACTN2):c.1288G>C (p.Glu430Gln)
|
rs370865082
|
0.00006
|
NM_001103.4(ACTN2):c.2323C>T (p.His775Tyr)
|
rs370677725
|
0.00006
|
NM_001103.4(ACTN2):c.2678A>G (p.Asp893Gly)
|
rs199920384
|
0.00006
|
NM_001105206.3(LAMA4):c.1166A>G (p.His389Arg)
|
rs782618362
|
0.00006
|
NM_001105206.3(LAMA4):c.1420G>A (p.Val474Ile)
|
rs375981026
|
0.00006
|
NM_001105206.3(LAMA4):c.1551+8G>A
|
rs782128294
|
0.00006
|
NM_001105206.3(LAMA4):c.1634G>A (p.Arg545His)
|
rs143937452
|
0.00006
|
NM_001105206.3(LAMA4):c.167C>T (p.Ala56Val)
|
rs372763422
|
0.00006
|
NM_001105206.3(LAMA4):c.4583G>T (p.Arg1528Leu)
|
rs782805733
|
0.00006
|
NM_001105206.3(LAMA4):c.4679G>A (p.Arg1560Gln)
|
rs397516732
|
0.00006
|
NM_001105206.3(LAMA4):c.5393T>C (p.Ile1798Thr)
|
rs377204776
|
0.00006
|
NM_001105206.3(LAMA4):c.5437G>A (p.Gly1813Ser)
|
rs142048329
|
0.00006
|
NM_001105206.3(LAMA4):c.672C>T (p.Cys224=)
|
rs781903380
|
0.00006
|
NM_001105206.3(LAMA4):c.928C>G (p.His310Asp)
|
rs374968791
|
0.00006
|
NM_001134363.3(RBM20):c.*3004T>A
|
rs3793704
|
0.00006
|
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln)
|
rs138926584
|
0.00006
|
NM_001134363.3(RBM20):c.2359G>A (p.Glu787Lys)
|
rs886038886
|
0.00006
|
NM_001134363.3(RBM20):c.3268A>T (p.Ile1090Phe)
|
rs371828469
|
0.00006
|
NM_001134363.3(RBM20):c.442G>A (p.Gly148Ser)
|
rs375200447
|
0.00006
|
NM_001134363.3(RBM20):c.774G>A (p.Ser258=)
|
rs569846404
|
0.00006
|
NM_001159699.2(FHL1):c.400A>G (p.Lys134Glu)
|
rs781053469
|
0.00006
|
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr)
|
rs727504476
|
0.00006
|
NM_001267550.2(TTN):c.104222C>T (p.Thr34741Ile)
|
rs727505306
|
0.00006
|
NM_001267550.2(TTN):c.104912C>T (p.Ala34971Val)
|
rs1419052992
|
0.00006
|
NM_001267550.2(TTN):c.107364C>T (p.Ser35788=)
|
rs1057521273
|
0.00006
|
NM_001267550.2(TTN):c.1231A>C (p.Thr411Pro)
|
rs911182620
|
0.00006
|
NM_001267550.2(TTN):c.21653C>T (p.Ala7218Val)
|
rs763125654
|
0.00006
|
NM_001267550.2(TTN):c.22666C>T (p.Arg7556Cys)
|
rs754885396
|
0.00006
|
NM_001267550.2(TTN):c.27050-6G>A
|
rs765624428
|
0.00006
|
NM_001267550.2(TTN):c.28232G>A (p.Gly9411Glu)
|
rs563866126
|
0.00006
|
NM_001267550.2(TTN):c.35890C>T (p.Arg11964Ter)
|
rs1266298136
|
0.00006
|
NM_001267550.2(TTN):c.39067G>T (p.Val13023Phe)
|
rs774402932
|
0.00006
|
NM_001267550.2(TTN):c.39289C>G (p.Pro13097Ala)
|
rs370157162
|
0.00006
|
NM_001267550.2(TTN):c.39974-11T>G
|
rs758597536
|
0.00006
|
NM_001267550.2(TTN):c.44273G>A (p.Arg14758Gln)
|
rs770389312
|
0.00006
|
NM_001267550.2(TTN):c.44492G>A (p.Gly14831Glu)
|
rs751929345
|
0.00006
|
NM_001267550.2(TTN):c.47866G>A (p.Asp15956Asn)
|
rs372881122
|
0.00006
|
NM_001267550.2(TTN):c.48751G>A (p.Asp16251Asn)
|
rs199954570
|
0.00006
|
NM_001267550.2(TTN):c.48838G>A (p.Ala16280Thr)
|
rs372911542
|
0.00006
|
NM_001267550.2(TTN):c.49801G>T (p.Val16601Leu)
|
rs773271774
|
0.00006
|
NM_001267550.2(TTN):c.53744G>A (p.Arg17915Gln)
|
rs758896047
|
0.00006
|
NM_001267550.2(TTN):c.54518C>A (p.Pro18173Gln)
|
rs794729458
|
0.00006
|
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr)
|
rs72646819
|
0.00006
|
NM_001267550.2(TTN):c.55661G>A (p.Arg18554Gln)
|
rs202126861
|
0.00006
|
NM_001267550.2(TTN):c.56315C>T (p.Thr18772Ile)
|
rs370118111
|
0.00006
|
NM_001267550.2(TTN):c.5665G>T (p.Val1889Phe)
|
rs141105443
|
0.00006
|
NM_001267550.2(TTN):c.570A>T (p.Glu190Asp)
|
rs753196873
|
0.00006
|
NM_001267550.2(TTN):c.58732+6C>T
|
rs778350235
|
0.00006
|
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr)
|
rs376465623
|
0.00006
|
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=)
|
rs767152563
|
0.00006
|
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)
|
rs72646846
|
0.00006
|
NM_001267550.2(TTN):c.65389T>G (p.Cys21797Gly)
|
rs375830234
|
0.00006
|
NM_001267550.2(TTN):c.6639G>T (p.Glu2213Asp)
|
rs745719077
|
0.00006
|
NM_001267550.2(TTN):c.66589C>T (p.Arg22197Trp)
|
rs774696610
|
0.00006
|
NM_001267550.2(TTN):c.67606G>A (p.Glu22536Lys)
|
rs371105318
|
0.00006
|
NM_001267550.2(TTN):c.70380G>A (p.Leu23460=)
|
rs185660043
|
0.00006
|
NM_001267550.2(TTN):c.80290G>A (p.Gly26764Arg)
|
rs727505213
|
0.00006
|
NM_001267550.2(TTN):c.81503G>A (p.Arg27168His)
|
rs374160272
|
0.00006
|
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu)
|
rs190721759
|
0.00006
|
NM_001267550.2(TTN):c.85976A>C (p.Lys28659Thr)
|
rs200724395
|
0.00006
|
NM_001267550.2(TTN):c.88622T>C (p.Ile29541Thr)
|
rs768292510
|
0.00006
|
NM_001267550.2(TTN):c.92137G>C (p.Ala30713Pro)
|
rs367807708
|
0.00006
|
NM_001267550.2(TTN):c.93323T>C (p.Ile31108Thr)
|
rs373732722
|
0.00006
|
NM_001267550.2(TTN):c.96424G>A (p.Val32142Ile)
|
rs779663332
|
0.00006
|
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn)
|
rs764561909
|
0.00006
|
NM_001267550.2(TTN):c.99178A>C (p.Ile33060Leu)
|
rs142108986
|
0.00006
|
NM_001276345.2(TNNT2):c.295-14C>T
|
rs747477576
|
0.00006
|
NM_001289808.2(CRYAB):c.37C>A (p.Pro13Thr)
|
rs1349139935
|
0.00006
|
NM_001458.5(FLNC):c.3887C>T (p.Ser1296Leu)
|
rs747587140
|
0.00006
|
NM_001458.5(FLNC):c.5071G>A (p.Asp1691Asn)
|
rs777061037
|
0.00006
|
NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met)
|
rs140857707
|
0.00006
|
NM_001458.5(FLNC):c.651C>T (p.Asn217=)
|
rs370425863
|
0.00006
|
NM_001458.5(FLNC):c.7090C>T (p.Arg2364Cys)
|
rs374973240
|
0.00006
|
NM_001927.4(DES):c.*695C>T
|
rs1452548510
|
0.00006
|
NM_001943.5(DSG2):c.1949C>T (p.Thr650Ile)
|
rs373512167
|
0.00006
|
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala)
|
rs372494397
|
0.00006
|
NM_002230.4(JUP):c.-51C>G
|
rs886052920
|
0.00006
|
NM_002230.4(JUP):c.109G>A (p.Val37Ile)
|
rs150769772
|
0.00006
|
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys)
|
rs531732438
|
0.00006
|
NM_002230.4(JUP):c.1912A>C (p.Asn638His)
|
rs782658008
|
0.00006
|
NM_002230.4(JUP):c.530G>A (p.Arg177Gln)
|
rs371481933
|
0.00006
|
NM_002471.4(MYH6):c.1628A>G (p.Lys543Arg)
|
rs367663906
|
0.00006
|
NM_002471.4(MYH6):c.2258T>C (p.Ile753Thr)
|
rs369729808
|
0.00006
|
NM_002471.4(MYH6):c.226G>A (p.Val76Met)
|
rs977234074
|
0.00006
|
NM_002471.4(MYH6):c.2716C>T (p.Arg906Cys)
|
rs143928061
|
0.00006
|
NM_002471.4(MYH6):c.2951T>C (p.Met984Thr)
|
rs202028680
|
0.00006
|
NM_002471.4(MYH6):c.3427C>T (p.Arg1143Trp)
|
rs755209382
|
0.00006
|
NM_002471.4(MYH6):c.3619G>A (p.Glu1207Lys)
|
rs397516762
|
0.00006
|
NM_002471.4(MYH6):c.3923T>G (p.Leu1308Arg)
|
rs776486154
|
0.00006
|
NM_002471.4(MYH6):c.4651-14C>A
|
rs902807471
|
0.00006
|
NM_002471.4(MYH6):c.4747G>A (p.Glu1583Lys)
|
rs397516771
|
0.00006
|
NM_002471.4(MYH6):c.4991G>A (p.Arg1664His)
|
rs778287981
|
0.00006
|
NM_002471.4(MYH6):c.5102G>A (p.Arg1701Gln)
|
rs762103586
|
0.00006
|
NM_002471.4(MYH6):c.5458C>T (p.Arg1820Trp)
|
rs111473291
|
0.00006
|
NM_002471.4(MYH6):c.5491G>A (p.Glu1831Lys)
|
rs367834703
|
0.00006
|
NM_002471.4(MYH6):c.800-5C>T
|
rs727505228
|
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_002834.5(PTPN11):c.616T>C (p.Leu206=)
|
rs78376169
|
0.00006
|
NM_002880.4(RAF1):c.1814C>T (p.Ser605Phe)
|
rs730881004
|
0.00006
|
NM_003239.5(TGFB3):c.235C>G (p.Leu79Val)
|
rs371230847
|
0.00006
|
NM_003476.5(CSRP3):c.148G>A (p.Ala50Thr)
|
rs145300736
|
0.00006
|
NM_003803.4(MYOM1):c.3419G>A (p.Gly1140Glu)
|
rs375843420
|
0.00006
|
NM_004006.3(DMD):c.6117+15C>T
|
rs754718247
|
0.00006
|
NM_004006.3(DMD):c.6863A>G (p.Gln2288Arg)
|
rs762708936
|
0.00006
|
NM_004006.3(DMD):c.8399T>C (p.Leu2800Ser)
|
rs398124071
|
0.00006
|
NM_004281.4(BAG3):c.1166G>A (p.Ser389Asn)
|
rs140251789
|
0.00006
|
NM_004281.4(BAG3):c.1362C>T (p.Ile454=)
|
rs372417286
|
0.00006
|
NM_004281.4(BAG3):c.1523A>G (p.Tyr508Cys)
|
rs747583925
|
0.00006
|
NM_004281.4(BAG3):c.487C>T (p.Pro163Ser)
|
rs746956979
|
0.00006
|
NM_004281.4(BAG3):c.574G>A (p.Gly192Ser)
|
rs201487919
|
0.00006
|
NM_004333.6(BRAF):c.504+19C>T
|
rs780617193
|
0.00006
|
NM_004415.4(DSP):c.1155G>A (p.Ala385=)
|
rs140488069
|
0.00006
|
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys)
|
rs773113261
|
0.00006
|
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser)
|
rs2491079
|
0.00006
|
NM_004415.4(DSP):c.3836C>T (p.Ala1279Val)
|
rs753270443
|
0.00006
|
NM_004415.4(DSP):c.4022G>A (p.Arg1341His)
|
rs112242645
|
0.00006
|
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala)
|
rs200745877
|
0.00006
|
NM_004415.4(DSP):c.4320G>A (p.Val1440=)
|
rs571103583
|
0.00006
|
NM_004415.4(DSP):c.4914C>T (p.Asp1638=)
|
rs750113099
|
0.00006
|
NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn)
|
rs138588403
|
0.00006
|
NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp)
|
rs149827779
|
0.00006
|
NM_004453.4(ETFDH):c.1744A>C (p.Asn582His)
|
rs757842479
|
0.00006
|
NM_005159.5(ACTC1):c.129+18C>A
|
rs368977747
|
0.00006
|
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala)
|
rs553805862
|
0.00006
|
NM_006073.4(TRDN):c.1975+8C>T
|
rs754046696
|
0.00006
|
NM_006073.4(TRDN):c.2084A>T (p.Asp695Val)
|
rs202040879
|
0.00006
|
NM_006073.4(TRDN):c.550G>T (p.Ala184Ser)
|
rs576028226
|
0.00006
|
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter)
|
rs397515458
|
0.00006
|
NM_006172.4(NPPA):c.253G>A (p.Gly85Arg)
|
rs749353276
|
0.00006
|
NM_007078.3(LDB3):c.1231+19G>A
|
rs763969244
|
0.00006
|
NM_013266.4(CTNNA3):c.796C>T (p.Pro266Ser)
|
rs199985402
|
0.00006
|
NM_014000.3(VCL):c.1195A>C (p.Asn399His)
|
rs377228795
|
0.00006
|
NM_014000.3(VCL):c.2468G>A (p.Arg823Gln)
|
rs759202535
|
0.00006
|
NM_014000.3(VCL):c.2531C>T (p.Pro844Leu)
|
rs145393322
|
0.00006
|
NM_014000.3(VCL):c.2649A>C (p.Glu883Asp)
|
rs752902180
|
0.00006
|
NM_014000.3(VCL):c.592G>A (p.Val198Met)
|
rs760340545
|
0.00006
|
NM_014908.4(DOLK):c.323A>G (p.Glu108Gly)
|
rs779008975
|
0.00006
|
NM_014908.4(DOLK):c.344C>T (p.Ala115Val)
|
rs146804211
|
0.00006
|
NM_014908.4(DOLK):c.52G>A (p.Gly18Arg)
|
rs777998210
|
0.00006
|
NM_014908.4(DOLK):c.914C>G (p.Ser305Cys)
|
rs766759178
|
0.00006
|
NM_016599.5(MYOZ2):c.745A>G (p.Thr249Ala)
|
rs762234986
|
0.00006
|
NM_020297.4(ABCC9):c.1979G>A (p.Arg660Gln)
|
rs150255709
|
0.00006
|
NM_020297.4(ABCC9):c.4512+711G>A
|
rs72559751
|
0.00006
|
NM_020433.5(JPH2):c.1433C>T (p.Pro478Leu)
|
rs970525996
|
0.00006
|
NM_020433.5(JPH2):c.380-20C>T
|
rs779167207
|
0.00006
|
NM_021167.5(GATAD1):c.770C>T (p.Pro257Leu)
|
rs145306938
|
0.00006
|
NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln)
|
rs193922707
|
0.00006
|
NM_024422.6(DSC2):c.2162C>T (p.Thr721Met)
|
rs759513934
|
0.00006
|
NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln)
|
rs765067237
|
0.00006
|
NM_024422.6(DSC2):c.266C>T (p.Ser89Leu)
|
rs141379407
|
0.00006
|
NM_030662.4(MAP2K2):c.890G>A (p.Arg297Gln)
|
rs140111079
|
0.00006
|
NM_032578.4(MYPN):c.1130+3A>C
|
rs770005365
|
0.00006
|
NM_032578.4(MYPN):c.1466G>A (p.Arg489Gln)
|
rs141031460
|
0.00006
|
NM_032578.4(MYPN):c.1757A>G (p.Asn586Ser)
|
rs550455783
|
0.00006
|
NM_032578.4(MYPN):c.2540G>T (p.Gly847Val)
|
rs181848049
|
0.00006
|
NM_033360.4(KRAS):c.4+5G>A
|
rs201789109
|
0.00006
|
NM_133379.5(TTN):c.13939del (p.Glu4647fs)
|
rs781363456
|
0.00006
|
NM_133379.5(TTN):c.13984A>G (p.Ile4662Val)
|
rs374783099
|
0.00006
|
NM_133379.5(TTN):c.14321A>G (p.Lys4774Arg)
|
rs768589711
|
0.00006
|
NM_133379.5(TTN):c.16582G>A (p.Gly5528Ser)
|
rs762590088
|
0.00006
|
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys)
|
rs368812830
|
0.00006
|
NM_144573.4(NEXN):c.2012T>C (p.Ile671Thr)
|
rs747781785
|
0.00006
|
NM_144573.4(NEXN):c.250G>A (p.Glu84Lys)
|
rs547319928
|
0.00006
|
NM_144573.4(NEXN):c.687+4A>T
|
rs754061340
|
0.00006
|
NM_182961.4(SYNE1):c.18946G>A (p.Val6316Ile)
|
rs557729565
|
0.00006
|
NM_000018.4(ACADVL):c.1754C>T (p.Ala585Val)
|
rs374729641
|
0.00005
|
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met)
|
rs113994168
|
0.00005
|
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr)
|
rs144155165
|
0.00005
|
NM_000152.5(GAA):c.1639G>A (p.Val547Met)
|
rs751102729
|
0.00005
|
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg)
|
rs142487534
|
0.00005
|
NM_000152.5(GAA):c.2481+15C>T
|
rs771155956
|
0.00005
|
NM_000182.5(HADHA):c.180+3A>G
|
rs781222705
|
0.00005
|
NM_000218.3(KCNQ1):c.1553G>A (p.Arg518Gln)
|
rs145974930
|
0.00005
|
NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=)
|
rs200670744
|
0.00005
|
NM_000218.3(KCNQ1):c.1885G>A (p.Gly629Ser)
|
rs775608046
|
0.00005
|
NM_000218.3(KCNQ1):c.1903G>A (p.Gly635Arg)
|
rs199473484
|
0.00005
|
NM_000218.3(KCNQ1):c.197C>A (p.Ser66Tyr)
|
rs199473446
|
0.00005
|
NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys)
|
rs199473464
|
0.00005
|
NM_000256.3(MYBPC3):c.1672G>A (p.Ala558Thr)
|
rs727503198
|
0.00005
|
NM_000256.3(MYBPC3):c.1789C>T (p.Arg597Trp)
|
rs201596087
|
0.00005
|
NM_000256.3(MYBPC3):c.3569G>A (p.Arg1190His)
|
rs117354682
|
0.00005
|
NM_000256.3(MYBPC3):c.3799C>T (p.Arg1267Cys)
|
rs765825263
|
0.00005
|
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)
|
rs371898076
|
0.00005
|
NM_000257.4(MYH7):c.4010G>A (p.Arg1337Gln)
|
rs368575559
|
0.00005
|
NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile)
|
rs144200285
|
0.00005
|
NM_000257.4(MYH7):c.67C>T (p.Arg23Trp)
|
rs730880828
|
0.00005
|
NM_000335.5(SCN5A):c.2077C>T (p.Arg693Cys)
|
rs375306544
|
0.00005
|
NM_000335.5(SCN5A):c.3232T>A (p.Ser1078Thr)
|
rs376183542
|
0.00005
|
NM_000335.5(SCN5A):c.3521G>A (p.Arg1174His)
|
rs374314562
|
0.00005
|
NM_000335.5(SCN5A):c.4456A>C (p.Met1486Leu)
|
rs199473258
|
0.00005
|
NM_000337.6(SGCD):c.*5884A>G
|
rs760303963
|
0.00005
|
NM_000371.4(TTR):c.13C>T (p.Arg5Cys)
|
rs144792001
|
0.00005
|
NM_000371.4(TTR):c.336+18C>T
|
rs370628373
|
0.00005
|
NM_000371.4(TTR):c.385G>A (p.Ala129Thr)
|
rs267607159
|
0.00005
|
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys)
|
rs132630327
|
0.00005
|
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)
|
rs372827156
|
0.00005
|
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)
|
rs121434420
|
0.00005
|
NM_001035.3(RYR2):c.11206G>A (p.Ala3736Thr)
|
rs375095599
|
0.00005
|
NM_001035.3(RYR2):c.815G>T (p.Arg272Leu)
|
rs377368967
|
0.00005
|
NM_001079802.2(FKTN):c.*954T>A
|
rs886063323
|
0.00005
|
NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln)
|
rs143748939
|
0.00005
|
NM_001103.4(ACTN2):c.127-3C>A
|
rs368775036
|
0.00005
|
NM_001103.4(ACTN2):c.1324C>T (p.Arg442Trp)
|
rs769073315
|
0.00005
|
NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln)
|
rs777124854
|
0.00005
|
NM_001103.4(ACTN2):c.537-14C>T
|
rs577211083
|
0.00005
|
NM_001105206.3(LAMA4):c.1837A>G (p.Met613Val)
|
rs371083384
|
0.00005
|
NM_001105206.3(LAMA4):c.2626G>A (p.Glu876Lys)
|
rs147206383
|
0.00005
|
NM_001105206.3(LAMA4):c.3406T>C (p.Tyr1136His)
|
rs148462898
|
0.00005
|
NM_001105206.3(LAMA4):c.4208C>T (p.Pro1403Leu)
|
rs1255830395
|
0.00005
|
NM_001105206.3(LAMA4):c.4572G>C (p.Leu1524Phe)
|
rs145315273
|
0.00005
|
NM_001134363.3(RBM20):c.3217G>A (p.Glu1073Lys)
|
rs770328474
|
0.00005
|
NM_001232.4(CASQ2):c.158G>T (p.Cys53Phe)
|
rs151168851
|
0.00005
|
NM_001232.4(CASQ2):c.927C>T (p.Asp309=)
|
rs749266321
|
0.00005
|
NM_001267550.2(TTN):c.101251A>C (p.Asn33751His)
|
rs753658469
|
0.00005
|
NM_001267550.2(TTN):c.101439G>A (p.Lys33813=)
|
rs72629781
|
0.00005
|
NM_001267550.2(TTN):c.10204G>A (p.Glu3402Lys)
|
rs766262957
|
0.00005
|
NM_001267550.2(TTN):c.103910G>A (p.Arg34637Gln)
|
rs199642423
|
0.00005
|
NM_001267550.2(TTN):c.106388G>C (p.Gly35463Ala)
|
rs373369136
|
0.00005
|
NM_001267550.2(TTN):c.10654G>C (p.Ala3552Pro)
|
rs774004409
|
0.00005
|
NM_001267550.2(TTN):c.13979C>T (p.Thr4660Met)
|
rs754231728
|
0.00005
|
NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp)
|
rs150231219
|
0.00005
|
NM_001267550.2(TTN):c.23065G>A (p.Asp7689Asn)
|
rs727505052
|
0.00005
|
NM_001267550.2(TTN):c.2734C>T (p.Arg912Cys)
|
rs371156190
|
0.00005
|
NM_001267550.2(TTN):c.28205G>A (p.Arg9402His)
|
rs773986121
|
0.00005
|
NM_001267550.2(TTN):c.30717A>C (p.Lys10239Asn)
|
rs553520141
|
0.00005
|
NM_001267550.2(TTN):c.3148A>G (p.Thr1050Ala)
|
rs940553223
|
0.00005
|
NM_001267550.2(TTN):c.32555-2A>C
|
rs781581062
|
0.00005
|
NM_001267550.2(TTN):c.32803A>G (p.Lys10935Glu)
|
rs397517543
|
0.00005
|
NM_001267550.2(TTN):c.33328C>T (p.Pro11110Ser)
|
rs565328082
|
0.00005
|
NM_001267550.2(TTN):c.39941C>A (p.Thr13314Asn)
|
rs543338451
|
0.00005
|
NM_001267550.2(TTN):c.415C>T (p.Arg139Trp)
|
rs752970602
|
0.00005
|
NM_001267550.2(TTN):c.4321C>T (p.Arg1441Cys)
|
rs146241078
|
0.00005
|
NM_001267550.2(TTN):c.44078G>A (p.Arg14693His)
|
rs746380621
|
0.00005
|
NM_001267550.2(TTN):c.47942C>T (p.Thr15981Met)
|
rs150364979
|
0.00005
|
NM_001267550.2(TTN):c.4945G>A (p.Val1649Ile)
|
rs138931943
|
0.00005
|
NM_001267550.2(TTN):c.50269G>A (p.Ala16757Thr)
|
rs886042536
|
0.00005
|
NM_001267550.2(TTN):c.51185G>A (p.Ser17062Asn)
|
rs876658064
|
0.00005
|
NM_001267550.2(TTN):c.54167G>A (p.Arg18056Gln)
|
rs376932266
|
0.00005
|
NM_001267550.2(TTN):c.54581G>A (p.Gly18194Asp)
|
rs201802447
|
0.00005
|
NM_001267550.2(TTN):c.55932T>C (p.Phe18644=)
|
rs755839294
|
0.00005
|
NM_001267550.2(TTN):c.57593A>G (p.Asn19198Ser)
|
rs199787097
|
0.00005
|
NM_001267550.2(TTN):c.59813C>T (p.Ala19938Val)
|
rs1187337182
|
0.00005
|
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr)
|
rs727503588
|
0.00005
|
NM_001267550.2(TTN):c.60221-19T>C
|
rs533551256
|
0.00005
|
NM_001267550.2(TTN):c.61916A>G (p.Tyr20639Cys)
|
rs756303390
|
0.00005
|
NM_001267550.2(TTN):c.68298C>A (p.Asp22766Glu)
|
rs534340303
|
0.00005
|
NM_001267550.2(TTN):c.69376G>C (p.Val23126Leu)
|
rs756671149
|
0.00005
|
NM_001267550.2(TTN):c.7817C>T (p.Ala2606Val)
|
rs370857722
|
0.00005
|
NM_001267550.2(TTN):c.80168G>A (p.Arg26723His)
|
rs371615296
|
0.00005
|
NM_001267550.2(TTN):c.81647G>A (p.Arg27216His)
|
rs371910831
|
0.00005
|
NM_001267550.2(TTN):c.81737T>C (p.Ile27246Thr)
|
rs367603381
|
0.00005
|
NM_001267550.2(TTN):c.8312T>C (p.Ile2771Thr)
|
rs780465670
|
0.00005
|
NM_001267550.2(TTN):c.84362C>A (p.Thr28121Lys)
|
rs397517726
|
0.00005
|
NM_001267550.2(TTN):c.84848A>G (p.Lys28283Arg)
|
rs545841306
|
0.00005
|
NM_001267550.2(TTN):c.86448C>A (p.Asn28816Lys)
|
rs774349799
|
0.00005
|
NM_001267550.2(TTN):c.86821+2T>A
|
rs397517735
|
0.00005
|
NM_001267550.2(TTN):c.87010G>A (p.Gly29004Ser)
|
rs761251825
|
0.00005
|
NM_001267550.2(TTN):c.89500C>A (p.Leu29834Ile)
|
rs761591533
|
0.00005
|
NM_001267550.2(TTN):c.89711G>A (p.Arg29904His)
|
rs397517744
|
0.00005
|
NM_001267550.2(TTN):c.90452T>C (p.Leu30151Pro)
|
rs568322187
|
0.00005
|
NM_001267550.2(TTN):c.96286G>A (p.Ala32096Thr)
|
rs376039623
|
0.00005
|
NM_001267550.2(TTN):c.97156G>A (p.Gly32386Arg)
|
rs758534800
|
0.00005
|
NM_001267550.2(TTN):c.97378A>G (p.Lys32460Glu)
|
rs965156924
|
0.00005
|
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val)
|
rs727503538
|
0.00005
|
NM_001267550.2(TTN):c.99039T>C (p.Asp33013=)
|
rs1037997977
|
0.00005
|
NM_001276345.2(TNNT2):c.863G>A (p.Arg288His)
|
rs397516484
|
0.00005
|
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His)
|
rs141121678
|
0.00005
|
NM_001289808.2(CRYAB):c.367C>T (p.Arg123Trp)
|
rs534473091
|
0.00005
|
NM_001289808.2(CRYAB):c.470G>A (p.Arg157His)
|
rs141638421
|
0.00005
|
NM_001458.5(FLNC):c.5431C>T (p.Arg1811Trp)
|
rs374794518
|
0.00005
|
NM_001927.4(DES):c.1009G>A (p.Ala337Thr)
|
rs59962885
|
0.00005
|
NM_001927.4(DES):c.1123C>T (p.Arg375Trp)
|
rs375218723
|
0.00005
|
NM_001943.5(DSG2):c.2471G>A (p.Arg824His)
|
rs376858770
|
0.00005
|
NM_001943.5(DSG2):c.961T>A (p.Phe321Ile)
|
rs201040643
|
0.00005
|
NM_002230.4(JUP):c.*906A>C
|
rs569644513
|
0.00005
|
NM_002230.4(JUP):c.1039G>A (p.Ala347Thr)
|
rs782301706
|
0.00005
|
NM_002230.4(JUP):c.412G>A (p.Glu138Lys)
|
rs150245906
|
0.00005
|
NM_002230.4(JUP):c.998G>A (p.Arg333His)
|
rs727503099
|
0.00005
|
NM_002471.4(MYH6):c.190G>A (p.Glu64Lys)
|
rs750818212
|
0.00005
|
NM_002471.4(MYH6):c.3785G>A (p.Arg1262His)
|
rs544358806
|
0.00005
|
NM_002471.4(MYH6):c.5077G>A (p.Val1693Met)
|
rs373457153
|
0.00005
|
NM_002471.4(MYH6):c.5587C>T (p.Leu1863=)
|
rs142767538
|
0.00005
|
NM_002471.4(MYH6):c.5661+9A>G
|
rs373908250
|
0.00005
|
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg)
|
rs137852765
|
0.00005
|
NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala)
|
rs397516859
|
0.00005
|
NM_004006.3(DMD):c.146G>A (p.Arg49His)
|
rs765584669
|
0.00005
|
NM_004006.3(DMD):c.1654G>T (p.Val552Phe)
|
rs748690103
|
0.00005
|
NM_004006.3(DMD):c.1687C>T (p.Arg563Cys)
|
rs145739725
|
0.00005
|
NM_004006.3(DMD):c.1713T>A (p.Phe571Leu)
|
rs587782936
|
0.00005
|
NM_004006.3(DMD):c.5270T>C (p.Ile1757Thr)
|
rs201516290
|
0.00005
|
NM_004006.3(DMD):c.7712G>T (p.Arg2571Leu)
|
rs371588290
|
0.00005
|
NM_004006.3(DMD):c.8321T>G (p.Leu2774Arg)
|
rs750419527
|
0.00005
|
NM_004006.3(DMD):c.8609G>A (p.Arg2870Gln)
|
rs373481995
|
0.00005
|
NM_004006.3(DMD):c.9504G>C (p.Leu3168Phe)
|
rs185247491
|
0.00005
|
NM_004100.5(EYA4):c.*732A>G
|
rs902919934
|
0.00005
|
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr)
|
rs369100772
|
0.00005
|
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
|
rs748089700
|
0.00005
|
NM_004168.4(SDHA):c.51G>A (p.Ala17=)
|
rs764698195
|
0.00005
|
NM_004168.4(SDHA):c.841A>G (p.Thr281Ala)
|
rs772325115
|
0.00005
|
NM_004281.4(BAG3):c.133C>T (p.Arg45Cys)
|
rs747820097
|
0.00005
|
NM_004281.4(BAG3):c.872C>T (p.Ser291Leu)
|
rs368866313
|
0.00005
|
NM_004333.6(BRAF):c.1024A>G (p.Ile342Val)
|
rs201481342
|
0.00005
|
NM_004415.4(DSP):c.1983T>C (p.Asn661=)
|
rs770735715
|
0.00005
|
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile)
|
rs749820299
|
0.00005
|
NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln)
|
rs751849031
|
0.00005
|
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln)
|
rs367759510
|
0.00005
|
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu)
|
rs374262024
|
0.00005
|
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)
|
rs371493232
|
0.00005
|
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter)
|
rs372936166
|
0.00005
|
NM_006073.4(TRDN):c.1361T>C (p.Val454Ala)
|
rs745960330
|
0.00005
|
NM_006073.4(TRDN):c.1471+5T>C
|
rs374426512
|
0.00005
|
NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala)
|
rs397517211
|
0.00005
|
NM_014000.3(VCL):c.1287T>A (p.Asp429Glu)
|
rs139371702
|
0.00005
|
NM_014000.3(VCL):c.1583G>A (p.Arg528His)
|
rs746095066
|
0.00005
|
NM_014908.4(DOLK):c.1166G>A (p.Arg389Gln)
|
rs201984428
|
0.00005
|
NM_014908.4(DOLK):c.1431G>A (p.Met477Ile)
|
rs754150966
|
0.00005
|
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala)
|
rs374860681
|
0.00005
|
NM_014908.4(DOLK):c.434G>C (p.Gly145Ala)
|
rs377064301
|
0.00005
|
NM_014908.4(DOLK):c.876C>G (p.Phe292Leu)
|
rs147342916
|
0.00005
|
NM_016203.4(PRKAG2):c.147C>T (p.Asp49=)
|
rs761196275
|
0.00005
|
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu)
|
rs41317142
|
0.00005
|
NM_020297.4(ABCC9):c.4512+777G>A
|
rs542730918
|
0.00005
|
NM_020433.5(JPH2):c.1894G>A (p.Glu632Lys)
|
rs200149713
|
0.00005
|
NM_021167.5(GATAD1):c.578C>G (p.Ser193Cys)
|
rs780188711
|
0.00005
|
NM_024334.3(TMEM43):c.442+12G>C
|
rs530183718
|
0.00005
|
NM_024334.3(TMEM43):c.679C>G (p.His227Asp)
|
rs201460674
|
0.00005
|
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys)
|
rs879255385
|
0.00005
|
NM_032578.4(MYPN):c.2925+20A>C
|
rs200111945
|
0.00005
|
NM_032578.4(MYPN):c.3456C>T (p.Thr1152=)
|
rs202183926
|
0.00005
|
NM_133379.5(TTN):c.10837G>A (p.Ala3613Thr)
|
rs144967245
|
0.00005
|
NM_133379.5(TTN):c.15349T>G (p.Tyr5117Asp)
|
rs201308378
|
0.00005
|
NM_133379.5(TTN):c.16135C>T (p.Pro5379Ser)
|
rs182516675
|
0.00005
|
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln)
|
rs267607570
|
0.00005
|
NM_182961.4(SYNE1):c.24301C>T (p.Arg8101Cys)
|
rs772622270
|
0.00005
|
NM_182961.4(SYNE1):c.5048T>G (p.Met1683Arg)
|
rs769420760
|
0.00005
|
NM_206937.2(LIG4):c.1882C>T (p.Arg628Trp)
|
rs755708095
|
0.00005
|
NM_206937.2(LIG4):c.381G>C (p.Met127Ile)
|
rs61752350
|
0.00005
|
NM_000126.4(ETFA):c.170G>C (p.Gly57Ala)
|
rs146299082
|
0.00004
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
0.00004
|
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989
|
0.00004
|
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)
|
rs779556619
|
0.00004
|
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)
|
rs144731405
|
0.00004
|
NM_000152.5(GAA):c.2331G>A (p.Thr777=)
|
rs375311693
|
0.00004
|
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu)
|
rs773498009
|
0.00004
|
NM_000152.5(GAA):c.502C>T (p.Arg168Trp)
|
rs777473001
|
0.00004
|
NM_000152.5(GAA):c.762G>A (p.Ser254=)
|
rs533960093
|
0.00004
|
NM_000152.5(GAA):c.781G>A (p.Ala261Thr)
|
rs543360994
|
0.00004
|
NM_000152.5(GAA):c.784G>A (p.Glu262Lys)
|
rs201896815
|
0.00004
|
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)
|
rs78973108
|
0.00004
|
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly)
|
rs1057942
|
0.00004
|
NM_000182.5(HADHA):c.1753G>A (p.Ala585Thr)
|
rs753722938
|
0.00004
|
NM_000182.5(HADHA):c.919-2A>G
|
rs200017313
|
0.00004
|
NM_000203.5(IDUA):c.340C>A (p.Leu114Met)
|
rs372934646
|
0.00004
|
NM_000218.3(KCNQ1):c.1456G>A (p.Ala486Thr)
|
rs753256800
|
0.00004
|
NM_000218.3(KCNQ1):c.1750G>A (p.Gly584Ser)
|
rs199472811
|
0.00004
|
NM_000218.3(KCNQ1):c.242C>T (p.Pro81Leu)
|
rs771921468
|
0.00004
|
NM_000218.3(KCNQ1):c.41G>T (p.Arg14Leu)
|
rs1424013094
|
0.00004
|
NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp)
|
rs150172393
|
0.00004
|
NM_000231.3(SGCG):c.439G>A (p.Gly147Ser)
|
rs374836520
|
0.00004
|
NM_000256.3(MYBPC3):c.104G>A (p.Arg35Gln)
|
rs397515885
|
0.00004
|
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)
|
rs200411226
|
0.00004
|
NM_000256.3(MYBPC3):c.150C>T (p.Ser50=)
|
rs368918487
|
0.00004
|
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)
|
rs371488302
|
0.00004
|
NM_000256.3(MYBPC3):c.2552C>T (p.Ala851Val)
|
rs774172488
|
0.00004
|
NM_000256.3(MYBPC3):c.2640C>T (p.Asp880=)
|
rs397515980
|
0.00004
|
NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu)
|
rs773819168
|
0.00004
|
NM_000256.3(MYBPC3):c.2807C>T (p.Thr936Met)
|
rs374946555
|
0.00004
|
NM_000256.3(MYBPC3):c.2939G>A (p.Arg980His)
|
rs727503179
|
0.00004
|
NM_000256.3(MYBPC3):c.3330+2T>G
|
rs387906397
|
0.00004
|
NM_000256.3(MYBPC3):c.3452C>T (p.Ala1151Val)
|
rs779884363
|
0.00004
|
NM_000256.3(MYBPC3):c.3580G>A (p.Ala1194Thr)
|
rs397516026
|
0.00004
|
NM_000256.3(MYBPC3):c.3676C>T (p.Arg1226Cys)
|
rs397516033
|
0.00004
|
NM_000256.3(MYBPC3):c.479G>A (p.Arg160Gln)
|
rs730880617
|
0.00004
|
NM_000256.3(MYBPC3):c.630C>T (p.His210=)
|
rs762695516
|
0.00004
|
NM_000256.3(MYBPC3):c.639C>T (p.Tyr213=)
|
rs727504858
|
0.00004
|
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)
|
rs397516074
|
0.00004
|
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg)
|
rs373730381
|
0.00004
|
NM_000256.3(MYBPC3):c.82G>A (p.Val28Met)
|
rs776834755
|
0.00004
|
NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln)
|
rs11570060
|
0.00004
|
NM_000257.4(MYH7):c.211G>A (p.Val71Met)
|
rs730880830
|
0.00004
|
NM_000257.4(MYH7):c.3168G>C (p.Glu1056Asp)
|
rs747198710
|
0.00004
|
NM_000257.4(MYH7):c.4077C>T (p.Arg1359=)
|
rs45523835
|
0.00004
|
NM_000257.4(MYH7):c.4083T>G (p.Leu1361=)
|
rs754295295
|
0.00004
|
NM_000257.4(MYH7):c.4097C>T (p.Ser1366Leu)
|
rs767000995
|
0.00004
|
NM_000257.4(MYH7):c.4772T>A (p.Leu1591Gln)
|
rs730880808
|
0.00004
|
NM_000257.4(MYH7):c.4904T>C (p.Met1635Thr)
|
rs145822086
|
0.00004
|
NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr)
|
rs397516233
|
0.00004
|
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met)
|
rs139222507
|
0.00004
|
NM_000257.4(MYH7):c.5459G>A (p.Arg1820Gln)
|
rs371855540
|
0.00004
|
NM_000257.4(MYH7):c.924C>T (p.Tyr308=)
|
rs762065412
|
0.00004
|
NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val)
|
rs201641342
|
0.00004
|
NM_000335.5(SCN5A):c.2597C>T (p.Ser866Leu)
|
rs755194086
|
0.00004
|
NM_000335.5(SCN5A):c.2962C>T (p.Arg988Trp)
|
rs768691853
|
0.00004
|
NM_000335.5(SCN5A):c.3080G>A (p.Arg1027Gln)
|
rs763891399
|
0.00004
|
NM_000335.5(SCN5A):c.569G>A (p.Arg190Gln)
|
rs199473069
|
0.00004
|
NM_000335.5(SCN5A):c.5792C>T (p.Ala1931Val)
|
rs371194826
|
0.00004
|
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter)
|
rs757532106
|
0.00004
|
NM_000335.5(SCN5A):c.5969G>A (p.Arg1990Gln)
|
rs199473336
|
0.00004
|
NM_000335.5(SCN5A):c.6004G>A (p.Asp2002Asn)
|
rs376697724
|
0.00004
|
NM_000335.5(SCN5A):c.880G>A (p.Val294Met)
|
rs199473086
|
0.00004
|
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser)
|
rs137854608
|
0.00004
|
NM_000337.6(SGCD):c.*7566C>T
|
rs913397406
|
0.00004
|
NM_000337.6(SGCD):c.*906C>T
|
rs886060292
|
0.00004
|
NM_000337.6(SGCD):c.292C>T (p.Pro98Ser)
|
rs1437006739
|
0.00004
|
NM_000337.6(SGCD):c.393C>T (p.Ala131=)
|
rs397517922
|
0.00004
|
NM_000337.6(SGCD):c.511G>A (p.Gly171Ser)
|
rs764237334
|
0.00004
|
NM_000363.5(TNNI3):c.292C>T (p.Arg98Ter)
|
rs730881068
|
0.00004
|
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln)
|
rs397516347
|
0.00004
|
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)
|
rs368861241
|
0.00004
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)
|
rs121918085
|
0.00004
|
NM_000371.4(TTR):c.361G>A (p.Gly121Ser)
|
rs755337715
|
0.00004
|
NM_000432.4(MYL2):c.97T>C (p.Phe33Leu)
|
rs730880945
|
0.00004
|
NM_000447.3(PSEN2):c.85C>T (p.Arg29Cys)
|
rs142892469
|
0.00004
|
NM_000475.5(NR0B1):c.993C>T (p.Asn331=)
|
rs767263700
|
0.00004
|
NM_001005242.3(PKP2):c.1379-2022G>A
|
rs111450489
|
0.00004
|
NM_001005242.3(PKP2):c.1576G>A (p.Ala526Thr)
|
rs558637427
|
0.00004
|
NM_001005242.3(PKP2):c.2480G>A (p.Arg827Gln)
|
rs372263407
|
0.00004
|
NM_001005242.3(PKP2):c.364C>T (p.Arg122Cys)
|
rs759377911
|
0.00004
|
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn)
|
rs373222905
|
0.00004
|
NM_001018005.1(TPM1):c.-114G>A
|
rs886051319
|
0.00004
|
NM_001018005.2(TPM1):c.783C>T (p.Tyr261=)
|
rs751001221
|
0.00004
|
NM_001035.3(RYR2):c.10640C>T (p.Thr3547Met)
|
rs552050895
|
0.00004
|
NM_001035.3(RYR2):c.12541G>A (p.Gly4181Arg)
|
rs775477470
|
0.00004
|
NM_001035.3(RYR2):c.12664G>A (p.Glu4222Lys)
|
rs758453646
|
0.00004
|
NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile)
|
rs750117613
|
0.00004
|
NM_001035.3(RYR2):c.13249G>C (p.Glu4417Gln)
|
rs903232857
|
0.00004
|
NM_001035.3(RYR2):c.1838T>C (p.Val613Ala)
|
rs1057512489
|
0.00004
|
NM_001035.3(RYR2):c.2545G>A (p.Asp849Asn)
|
rs372569289
|
0.00004
|
NM_001035.3(RYR2):c.4076T>C (p.Val1359Ala)
|
rs1005458283
|
0.00004
|
NM_001035.3(RYR2):c.5662C>T (p.Arg1888Trp)
|
rs1006109370
|
0.00004
|
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr)
|
rs397516550
|
0.00004
|
NM_001035.3(RYR2):c.950T>C (p.Met317Thr)
|
rs367601258
|
0.00004
|
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr)
|
rs201669522
|
0.00004
|
NM_001042475.3(CEP85L):c.1020+5558G>A
|
rs886061004
|
0.00004
|
NM_001042475.3(CEP85L):c.1020+6172T>C
|
rs768837853
|
0.00004
|
NM_001079802.2(FKTN):c.*1175C>T
|
rs996474083
|
0.00004
|
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn)
|
rs146272618
|
0.00004
|
NM_001103.4(ACTN2):c.1899T>G (p.His633Gln)
|
rs727505112
|
0.00004
|
NM_001103.4(ACTN2):c.2069A>G (p.Asn690Ser)
|
rs552938924
|
0.00004
|
NM_001103.4(ACTN2):c.2376C>T (p.Ala792=)
|
rs369320952
|
0.00004
|
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr)
|
rs143150260
|
0.00004
|
NM_001105206.3(LAMA4):c.1503T>A (p.Asp501Glu)
|
rs370194991
|
0.00004
|
NM_001105206.3(LAMA4):c.1769C>G (p.Ala590Gly)
|
rs782394010
|
0.00004
|
NM_001105206.3(LAMA4):c.1843G>A (p.Gly615Arg)
|
rs377499201
|
0.00004
|
NM_001105206.3(LAMA4):c.2143G>T (p.Ala715Ser)
|
rs140710429
|
0.00004
|
NM_001105206.3(LAMA4):c.2402C>T (p.Thr801Met)
|
rs782325644
|
0.00004
|
NM_001105206.3(LAMA4):c.4346G>A (p.Arg1449Gln)
|
rs782695193
|
0.00004
|
NM_001105206.3(LAMA4):c.5005A>G (p.Lys1669Glu)
|
rs782716382
|
0.00004
|
NM_001105206.3(LAMA4):c.838C>A (p.Leu280Met)
|
rs369332778
|
0.00004
|
NM_001105206.3(LAMA4):c.967-16A>G
|
rs80110492
|
0.00004
|
NM_001122630.2(CDKN1C):c.395C>T (p.Ala132Val)
|
rs896475967
|
0.00004
|
NM_001134363.3(RBM20):c.*1619A>G
|
rs927932901
|
0.00004
|
NM_001134363.3(RBM20):c.1244G>A (p.Ser415Asn)
|
rs748133931
|
0.00004
|
NM_001134363.3(RBM20):c.1553G>A (p.Arg518His)
|
rs762725902
|
0.00004
|
NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val)
|
rs754805893
|
0.00004
|
NM_001134363.3(RBM20):c.2200C>T (p.Arg734Trp)
|
rs199972578
|
0.00004
|
NM_001134363.3(RBM20):c.2357A>G (p.Asp786Gly)
|
rs561904103
|
0.00004
|
NM_001134363.3(RBM20):c.2634G>A (p.Pro878=)
|
rs755917660
|
0.00004
|
NM_001134363.3(RBM20):c.3344C>T (p.Ser1115Phe)
|
rs769531546
|
0.00004
|
NM_001134363.3(RBM20):c.3649G>A (p.Gly1217Arg)
|
rs867232627
|
0.00004
|
NM_001134363.3(RBM20):c.42C>G (p.Ser14Arg)
|
rs541043583
|
0.00004
|
NM_001134363.3(RBM20):c.613C>A (p.Gln205Lys)
|
rs779777625
|
0.00004
|
NM_001159702.3(FHL1):c.-101+3A>G
|
rs895540444
|
0.00004
|
NM_001232.4(CASQ2):c.376G>C (p.Asp126His)
|
rs727502908
|
0.00004
|
NM_001267550.2(TTN):c.100163G>A (p.Ser33388Asn)
|
rs745406517
|
0.00004
|
NM_001267550.2(TTN):c.104204C>T (p.Thr34735Met)
|
rs755986938
|
0.00004
|
NM_001267550.2(TTN):c.104575C>T (p.Arg34859Trp)
|
rs879243057
|
0.00004
|
NM_001267550.2(TTN):c.104893G>C (p.Val34965Leu)
|
rs886042785
|
0.00004
|
NM_001267550.2(TTN):c.107728G>A (p.Glu35910Lys)
|
rs370649675
|
0.00004
|
NM_001267550.2(TTN):c.11615G>T (p.Gly3872Val)
|
rs751755895
|
0.00004
|
NM_001267550.2(TTN):c.15947C>T (p.Ala5316Val)
|
rs879242937
|
0.00004
|
NM_001267550.2(TTN):c.16234G>A (p.Ala5412Thr)
|
rs727504442
|
0.00004
|
NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn)
|
rs794727755
|
0.00004
|
NM_001267550.2(TTN):c.16517C>T (p.Ser5506Phe)
|
rs201125295
|
0.00004
|
NM_001267550.2(TTN):c.20057G>A (p.Arg6686Gln)
|
rs202022304
|
0.00004
|
NM_001267550.2(TTN):c.20170G>A (p.Val6724Ile)
|
rs140143513
|
0.00004
|
NM_001267550.2(TTN):c.20426T>C (p.Ile6809Thr)
|
rs879197315
|
0.00004
|
NM_001267550.2(TTN):c.29231G>A (p.Arg9744His)
|
rs760305440
|
0.00004
|
NM_001267550.2(TTN):c.30826T>G (p.Ser10276Ala)
|
rs778063825
|
0.00004
|
NM_001267550.2(TTN):c.31821G>T (p.Lys10607Asn)
|
rs746722623
|
0.00004
|
NM_001267550.2(TTN):c.32591A>G (p.Lys10864Arg)
|
rs767155246
|
0.00004
|
NM_001267550.2(TTN):c.32735C>T (p.Pro10912Leu)
|
rs781655223
|
0.00004
|
NM_001267550.2(TTN):c.33419-9T>C
|
rs1030703466
|
0.00004
|
NM_001267550.2(TTN):c.34027G>A (p.Val11343Ile)
|
rs369025108
|
0.00004
|
NM_001267550.2(TTN):c.38845C>T (p.Pro12949Ser)
|
rs757781411
|
0.00004
|
NM_001267550.2(TTN):c.39818-9T>C
|
rs368834130
|
0.00004
|
NM_001267550.2(TTN):c.41474G>A (p.Arg13825Gln)
|
rs727504774
|
0.00004
|
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His)
|
rs368572799
|
0.00004
|
NM_001267550.2(TTN):c.44113G>A (p.Ala14705Thr)
|
rs751017081
|
0.00004
|
NM_001267550.2(TTN):c.44435G>A (p.Arg14812His)
|
rs375574483
|
0.00004
|
NM_001267550.2(TTN):c.45128G>A (p.Ser15043Asn)
|
rs376144178
|
0.00004
|
NM_001267550.2(TTN):c.45199G>A (p.Asp15067Asn)
|
rs370904881
|
0.00004
|
NM_001267550.2(TTN):c.49008G>A (p.Val16336=)
|
rs781078888
|
0.00004
|
NM_001267550.2(TTN):c.51735C>T (p.Pro17245=)
|
rs747557917
|
0.00004
|
NM_001267550.2(TTN):c.53060G>T (p.Gly17687Val)
|
rs780672348
|
0.00004
|
NM_001267550.2(TTN):c.53213A>T (p.Asp17738Val)
|
rs773447539
|
0.00004
|
NM_001267550.2(TTN):c.54649A>G (p.Ser18217Gly)
|
rs201001270
|
0.00004
|
NM_001267550.2(TTN):c.54813T>G (p.Phe18271Leu)
|
rs370583314
|
0.00004
|
NM_001267550.2(TTN):c.55520G>A (p.Gly18507Glu)
|
rs794727388
|
0.00004
|
NM_001267550.2(TTN):c.56581G>A (p.Ala18861Thr)
|
rs368419410
|
0.00004
|
NM_001267550.2(TTN):c.57501T>C (p.Asn19167=)
|
rs780536141
|
0.00004
|
NM_001267550.2(TTN):c.58939G>A (p.Gly19647Arg)
|
rs201430346
|
0.00004
|
NM_001267550.2(TTN):c.59033T>C (p.Ile19678Thr)
|
rs746014701
|
0.00004
|
NM_001267550.2(TTN):c.6008G>A (p.Arg2003His)
|
rs753167856
|
0.00004
|
NM_001267550.2(TTN):c.6162C>T (p.Ala2054=)
|
rs143265948
|
0.00004
|
NM_001267550.2(TTN):c.61826G>A (p.Arg20609His)
|
rs372546292
|
0.00004
|
NM_001267550.2(TTN):c.62137G>A (p.Asp20713Asn)
|
rs1177521349
|
0.00004
|
NM_001267550.2(TTN):c.62486T>G (p.Phe20829Cys)
|
rs878916429
|
0.00004
|
NM_001267550.2(TTN):c.62780G>A (p.Arg20927His)
|
rs397517652
|
0.00004
|
NM_001267550.2(TTN):c.62802T>C (p.Tyr20934=)
|
rs762414876
|
0.00004
|
NM_001267550.2(TTN):c.62816G>A (p.Arg20939His)
|
rs777095470
|
0.00004
|
NM_001267550.2(TTN):c.63134G>C (p.Gly21045Ala)
|
rs878968094
|
0.00004
|
NM_001267550.2(TTN):c.63181C>T (p.Pro21061Ser)
|
rs375401971
|
0.00004
|
NM_001267550.2(TTN):c.63458T>C (p.Ile21153Thr)
|
rs772411127
|
0.00004
|
NM_001267550.2(TTN):c.6489C>T (p.His2163=)
|
rs762045402
|
0.00004
|
NM_001267550.2(TTN):c.65590G>C (p.Asp21864His)
|
rs375149365
|
0.00004
|
NM_001267550.2(TTN):c.656C>T (p.Thr219Ile)
|
rs926062512
|
0.00004
|
NM_001267550.2(TTN):c.66187G>C (p.Val22063Leu)
|
rs768057735
|
0.00004
|
NM_001267550.2(TTN):c.66568G>C (p.Gly22190Arg)
|
rs757537780
|
0.00004
|
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter)
|
rs574660186
|
0.00004
|
NM_001267550.2(TTN):c.67882G>A (p.Val22628Ile)
|
rs775731759
|
0.00004
|
NM_001267550.2(TTN):c.68007G>A (p.Lys22669=)
|
rs755897447
|
0.00004
|
NM_001267550.2(TTN):c.68791A>C (p.Ser22931Arg)
|
rs794729484
|
0.00004
|
NM_001267550.2(TTN):c.70288G>A (p.Val23430Ile)
|
rs549709481
|
0.00004
|
NM_001267550.2(TTN):c.70570A>G (p.Thr23524Ala)
|
rs369526268
|
0.00004
|
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys)
|
rs397517687
|
0.00004
|
NM_001267550.2(TTN):c.73247C>T (p.Thr24416Ile)
|
rs768476881
|
0.00004
|
NM_001267550.2(TTN):c.74225G>A (p.Arg24742His)
|
rs761823581
|
0.00004
|
NM_001267550.2(TTN):c.75954G>T (p.Lys25318Asn)
|
rs1001852514
|
0.00004
|
NM_001267550.2(TTN):c.77816A>C (p.Asp25939Ala)
|
rs397517712
|
0.00004
|
NM_001267550.2(TTN):c.79969G>T (p.Asp26657Tyr)
|
rs781076407
|
0.00004
|
NM_001267550.2(TTN):c.8051A>G (p.Asp2684Gly)
|
rs1008197005
|
0.00004
|
NM_001267550.2(TTN):c.81229G>A (p.Gly27077Arg)
|
rs878898668
|
0.00004
|
NM_001267550.2(TTN):c.82526G>A (p.Arg27509Gln)
|
rs1246168127
|
0.00004
|
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=)
|
rs557628408
|
0.00004
|
NM_001267550.2(TTN):c.84385G>T (p.Val28129Phe)
|
rs752974639
|
0.00004
|
NM_001267550.2(TTN):c.8494G>C (p.Val2832Leu)
|
rs375549179
|
0.00004
|
NM_001267550.2(TTN):c.85380A>G (p.Ile28460Met)
|
rs768545532
|
0.00004
|
NM_001267550.2(TTN):c.85838C>T (p.Thr28613Ile)
|
rs368615862
|
0.00004
|
NM_001267550.2(TTN):c.86809G>A (p.Val28937Ile)
|
rs794727453
|
0.00004
|
NM_001267550.2(TTN):c.88513C>T (p.Arg29505Cys)
|
rs372360369
|
0.00004
|
NM_001267550.2(TTN):c.89230G>A (p.Ala29744Thr)
|
rs201592005
|
0.00004
|
NM_001267550.2(TTN):c.8937C>T (p.Asn2979=)
|
rs368525666
|
0.00004
|
NM_001267550.2(TTN):c.89491A>G (p.Lys29831Glu)
|
rs774632104
|
0.00004
|
NM_001267550.2(TTN):c.9050G>A (p.Arg3017Lys)
|
rs372303620
|
0.00004
|
NM_001267550.2(TTN):c.91307G>A (p.Arg30436Gln)
|
rs770081431
|
0.00004
|
NM_001267550.2(TTN):c.9167G>A (p.Arg3056His)
|
rs547301978
|
0.00004
|
NM_001267550.2(TTN):c.92222C>T (p.Ala30741Val)
|
rs202090888
|
0.00004
|
NM_001267550.2(TTN):c.92363G>A (p.Gly30788Asp)
|
rs754125601
|
0.00004
|
NM_001267550.2(TTN):c.92561T>C (p.Ile30854Thr)
|
rs368427408
|
0.00004
|
NM_001267550.2(TTN):c.92716G>A (p.Asp30906Asn)
|
rs534881266
|
0.00004
|
NM_001267550.2(TTN):c.93527T>C (p.Leu31176Pro)
|
rs773083742
|
0.00004
|
NM_001267550.2(TTN):c.93968C>T (p.Ala31323Val)
|
rs200345129
|
0.00004
|
NM_001267550.2(TTN):c.94230C>T (p.Ser31410=)
|
rs373502790
|
0.00004
|
NM_001267550.2(TTN):c.95806G>A (p.Asp31936Asn)
|
rs267599025
|
0.00004
|
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met)
|
rs375640847
|
0.00004
|
NM_001267550.2(TTN):c.9650A>C (p.Glu3217Ala)
|
rs1014216424
|
0.00004
|
NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln)
|
rs752015224
|
0.00004
|
NM_001267550.2(TTN):c.99521T>C (p.Ile33174Thr)
|
rs879116103
|
0.00004
|
NM_001276345.2(TNNT2):c.810+5G>A
|
rs730881113
|
0.00004
|
NM_001289808.2(CRYAB):c.275A>G (p.Lys92Arg)
|
rs1256600488
|
0.00004
|
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys)
|
rs121908335
|
0.00004
|
NM_001386795.1(DTNA):c.2153G>A (p.Arg718His)
|
rs111587625
|
0.00004
|
NM_001458.5(FLNC):c.1082G>A (p.Arg361His)
|
rs752888774
|
0.00004
|
NM_001458.5(FLNC):c.1225G>A (p.Asp409Asn)
|
rs371913931
|
0.00004
|
NM_001458.5(FLNC):c.1261C>T (p.Arg421Trp)
|
rs759075520
|
0.00004
|
NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr)
|
rs200653747
|
0.00004
|
NM_001458.5(FLNC):c.2519G>A (p.Arg840His)
|
rs376472014
|
0.00004
|
NM_001458.5(FLNC):c.2737G>A (p.Glu913Lys)
|
rs774707336
|
0.00004
|
NM_001458.5(FLNC):c.2842G>A (p.Gly948Arg)
|
rs768103657
|
0.00004
|
NM_001458.5(FLNC):c.3004C>T (p.Arg1002Trp)
|
rs555764780
|
0.00004
|
NM_001458.5(FLNC):c.3133C>A (p.His1045Asn)
|
rs201863231
|
0.00004
|
NM_001458.5(FLNC):c.3722G>A (p.Arg1241His)
|
rs370520806
|
0.00004
|
NM_001458.5(FLNC):c.4055G>A (p.Arg1352His)
|
rs746731567
|
0.00004
|
NM_001458.5(FLNC):c.4650C>T (p.Asn1550=)
|
rs547733871
|
0.00004
|
NM_001458.5(FLNC):c.5792G>A (p.Arg1931His)
|
rs780685346
|
0.00004
|
NM_001458.5(FLNC):c.81C>A (p.Asp27Glu)
|
rs1318316375
|
0.00004
|
NM_001458.5(FLNC):c.925G>A (p.Glu309Lys)
|
rs781212262
|
0.00004
|
NM_001927.4(DES):c.109C>T (p.Arg37Trp)
|
rs537881554
|
0.00004
|
NM_001927.4(DES):c.1243C>T (p.Arg415Trp)
|
rs751942358
|
0.00004
|
NM_001927.4(DES):c.662C>T (p.Ala221Val)
|
rs746814065
|
0.00004
|
NM_001943.5(DSG2):c.-33G>A
|
rs903231469
|
0.00004
|
NM_001943.5(DSG2):c.208A>G (p.Ile70Val)
|
rs769713919
|
0.00004
|
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu)
|
rs771104668
|
0.00004
|
NM_001943.5(DSG2):c.2702A>G (p.Lys901Arg)
|
rs886039190
|
0.00004
|
NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile)
|
rs767538450
|
0.00004
|
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys)
|
rs786204291
|
0.00004
|
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn)
|
rs150194093
|
0.00004
|
NM_002230.4(JUP):c.115A>G (p.Ser39Gly)
|
rs782211863
|
0.00004
|
NM_002230.4(JUP):c.1331G>A (p.Arg444His)
|
rs369507567
|
0.00004
|
NM_002230.4(JUP):c.1359G>T (p.Glu453Asp)
|
rs376608339
|
0.00004
|
NM_002230.4(JUP):c.1653G>A (p.Thr551=)
|
rs782044013
|
0.00004
|
NM_002230.4(JUP):c.1882G>A (p.Ala628Thr)
|
rs730880114
|
0.00004
|
NM_002230.4(JUP):c.2105G>A (p.Arg702His)
|
rs200690479
|
0.00004
|
NM_002230.4(JUP):c.2128C>T (p.Pro710Ser)
|
rs782693565
|
0.00004
|
NM_002230.4(JUP):c.493A>G (p.Ile165Val)
|
rs782461741
|
0.00004
|
NM_002230.4(JUP):c.522G>A (p.Ala174=)
|
rs782745301
|
0.00004
|
NM_002230.4(JUP):c.607C>T (p.Arg203Cys)
|
rs147354282
|
0.00004
|
NM_002230.4(JUP):c.746C>T (p.Thr249Met)
|
rs377612199
|
0.00004
|
NM_002471.4(MYH6):c.1336G>A (p.Ala446Thr)
|
rs556536964
|
0.00004
|
NM_002471.4(MYH6):c.1639A>G (p.Met547Val)
|
rs760722098
|
0.00004
|
NM_002471.4(MYH6):c.2384G>A (p.Arg795Gln)
|
rs267606907
|
0.00004
|
NM_002471.4(MYH6):c.2612G>A (p.Arg871His)
|
rs869025473
|
0.00004
|
NM_002471.4(MYH6):c.268A>G (p.Met90Val)
|
rs778199745
|
0.00004
|
NM_002471.4(MYH6):c.3124C>A (p.Gln1042Lys)
|
rs756244326
|
0.00004
|
NM_002471.4(MYH6):c.3287T>C (p.Ile1096Thr)
|
rs762901493
|
0.00004
|
NM_002471.4(MYH6):c.3413G>A (p.Arg1138His)
|
rs745801044
|
0.00004
|
NM_002471.4(MYH6):c.3476C>T (p.Thr1159Met)
|
rs780305056
|
0.00004
|
NM_002471.4(MYH6):c.3618C>T (p.Gly1206=)
|
rs765103086
|
0.00004
|
NM_002471.4(MYH6):c.4082G>A (p.Arg1361His)
|
rs533942127
|
0.00004
|
NM_002471.4(MYH6):c.4525+3G>A
|
rs750348638
|
0.00004
|
NM_002471.4(MYH6):c.4822C>T (p.Arg1608Cys)
|
rs201683868
|
0.00004
|
NM_002471.4(MYH6):c.5513C>T (p.Ser1838Leu)
|
rs747673552
|
0.00004
|
NM_002471.4(MYH6):c.5594G>A (p.Arg1865Gln)
|
rs138720701
|
0.00004
|
NM_002471.4(MYH6):c.5735C>T (p.Ala1912Val)
|
rs373076710
|
0.00004
|
NM_002471.4(MYH6):c.610C>T (p.Arg204Cys)
|
rs756369181
|
0.00004
|
NM_002471.4(MYH6):c.928G>A (p.Asp310Asn)
|
rs374692396
|
0.00004
|
NM_002667.5(PLN):c.145G>A (p.Val49Met)
|
rs749962743
|
0.00004
|
NM_002834.5(PTPN11):c.14+11C>A
|
rs1486505121
|
0.00004
|
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser)
|
rs572274623
|
0.00004
|
NM_002880.4(RAF1):c.*643C>G
|
rs932173134
|
0.00004
|
NM_002880.4(RAF1):c.435G>A (p.Thr145=)
|
rs371565419
|
0.00004
|
NM_003239.5(TGFB3):c.-30G>A
|
rs770828281
|
0.00004
|
NM_003239.5(TGFB3):c.850C>T (p.Pro284Ser)
|
rs1018415204
|
0.00004
|
NM_003239.5(TGFB3):c.872C>T (p.Pro291Leu)
|
rs145121701
|
0.00004
|
NM_003476.5(CSRP3):c.298C>T (p.Arg100Cys)
|
rs201214593
|
0.00004
|
NM_003476.5(CSRP3):c.436C>T (p.Arg146Cys)
|
rs376198883
|
0.00004
|
NM_003673.4(TCAP):c.54G>C (p.Arg18=)
|
rs754054712
|
0.00004
|
NM_004006.3(DMD):c.1534C>T (p.His512Tyr)
|
rs147136371
|
0.00004
|
NM_004006.3(DMD):c.1742C>T (p.Ala581Val)
|
rs763155705
|
0.00004
|
NM_004006.3(DMD):c.2346A>T (p.Arg782Ser)
|
rs150692967
|
0.00004
|
NM_004006.3(DMD):c.4000G>A (p.Gly1334Arg)
|
rs146880270
|
0.00004
|
NM_004100.5(EYA4):c.*2049T>C
|
rs752513150
|
0.00004
|
NM_004100.5(EYA4):c.529G>A (p.Val177Ile)
|
rs776409783
|
0.00004
|
NM_004168.4(SDHA):c.1001C>T (p.Ala334Val)
|
rs765180271
|
0.00004
|
NM_004168.4(SDHA):c.1115C>G (p.Pro372Arg)
|
rs141493530
|
0.00004
|
NM_004168.4(SDHA):c.1694C>A (p.Thr565Asn)
|
rs757176672
|
0.00004
|
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu)
|
rs377632619
|
0.00004
|
NM_004168.4(SDHA):c.448G>A (p.Val150Met)
|
rs542980860
|
0.00004
|
NM_004168.4(SDHA):c.739A>G (p.Ile247Val)
|
rs571292356
|
0.00004
|
NM_004168.4(SDHA):c.970G>A (p.Glu324Lys)
|
rs147014102
|
0.00004
|
NM_004281.4(BAG3):c.652C>T (p.Arg218Trp)
|
rs397514506
|
0.00004
|
NM_004281.4(BAG3):c.926G>A (p.Arg309Gln)
|
rs774137001
|
0.00004
|
NM_004281.4(BAG3):c.968G>A (p.Ser323Asn)
|
rs754387872
|
0.00004
|
NM_004333.6(BRAF):c.1180T>C (p.Ser394Pro)
|
rs923739321
|
0.00004
|
NM_004333.6(BRAF):c.915G>A (p.Ala305=)
|
rs145675911
|
0.00004
|
NM_004415.4(DSP):c.137G>A (p.Gly46Asp)
|
rs140403872
|
0.00004
|
NM_004415.4(DSP):c.1418A>G (p.Gln473Arg)
|
rs746802503
|
0.00004
|
NM_004415.4(DSP):c.1443G>A (p.Glu481=)
|
rs149126992
|
0.00004
|
NM_004415.4(DSP):c.2622C>G (p.Ile874Met)
|
rs751067479
|
0.00004
|
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)
|
rs367752002
|
0.00004
|
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln)
|
rs374263890
|
0.00004
|
NM_004415.4(DSP):c.3684A>C (p.Lys1228Asn)
|
rs765645957
|
0.00004
|
NM_004415.4(DSP):c.3863A>G (p.Lys1288Arg)
|
rs746482538
|
0.00004
|
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys)
|
rs775594375
|
0.00004
|
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln)
|
rs748109826
|
0.00004
|
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln)
|
rs727505037
|
0.00004
|
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln)
|
rs768577891
|
0.00004
|
NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn)
|
rs780224658
|
0.00004
|
NM_004415.4(DSP):c.5795G>A (p.Arg1932His)
|
rs770522444
|
0.00004
|
NM_004415.4(DSP):c.5839T>C (p.Tyr1947His)
|
rs767259019
|
0.00004
|
NM_004415.4(DSP):c.6595C>T (p.Leu2199Phe)
|
rs549451471
|
0.00004
|
NM_004415.4(DSP):c.7970C>T (p.Thr2657Ile)
|
rs1478775642
|
0.00004
|
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met)
|
rs537588390
|
0.00004
|
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys)
|
rs753033333
|
0.00004
|
NM_004415.4(DSP):c.8590T>C (p.Phe2864Leu)
|
rs764514210
|
0.00004
|
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter)
|
rs398124151
|
0.00004
|
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)
|
rs121964954
|
0.00004
|
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys)
|
rs780015493
|
0.00004
|
NM_004985.5(KRAS):c.451-5652C>T
|
rs727505314
|
0.00004
|
NM_005159.5(ACTC1):c.*39C>T
|
rs3729758
|
0.00004
|
NM_005159.5(ACTC1):c.56_57insCA (p.Lys20fs)
|
rs730880387
|
0.00004
|
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser)
|
rs397517144
|
0.00004
|
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)
|
rs371314838
|
0.00004
|
NM_005633.4(SOS1):c.1720G>A (p.Val574Ile)
|
rs727504641
|
0.00004
|
NM_005633.4(SOS1):c.1905C>T (p.Cys635=)
|
rs762900789
|
0.00004
|
NM_005633.4(SOS1):c.3392G>A (p.Arg1131Lys)
|
rs768113420
|
0.00004
|
NM_005633.4(SOS1):c.382G>A (p.Val128Ile)
|
rs752402979
|
0.00004
|
NM_005633.4(SOS1):c.3857C>T (p.Ser1286Phe)
|
rs374341202
|
0.00004
|
NM_006073.4(TRDN):c.1136-1G>A
|
rs769776218
|
0.00004
|
NM_006073.4(TRDN):c.2179C>T (p.Gln727Ter)
|
rs201041981
|
0.00004
|
NM_006073.4(TRDN):c.376G>A (p.Glu126Lys)
|
rs539743603
|
0.00004
|
NM_006073.4(TRDN):c.575A>C (p.Lys192Thr)
|
rs777796676
|
0.00004
|
NM_006073.4(TRDN):c.991G>A (p.Glu331Lys)
|
rs763851599
|
0.00004
|
NM_006172.4(NPPA):c.319C>T (p.Arg107Ter)
|
rs772104828
|
0.00004
|
NM_006206.6(PDGFRA):c.1274A>G (p.His425Arg)
|
rs769631321
|
0.00004
|
NM_006206.6(PDGFRA):c.1970T>C (p.Ile657Thr)
|
rs969139366
|
0.00004
|
NM_006206.6(PDGFRA):c.838G>T (p.Ala280Ser)
|
rs150927351
|
0.00004
|
NM_006767.4(LZTR1):c.1942+3A>G
|
rs763690028
|
0.00004
|
NM_006767.4(LZTR1):c.1943-1G>A
|
rs1189015572
|
0.00004
|
NM_006939.4(SOS2):c.257C>T (p.Ala86Val)
|
rs146272145
|
0.00004
|
NM_006939.4(SOS2):c.532C>G (p.Gln178Glu)
|
rs770603835
|
0.00004
|
NM_007078.3(LDB3):c.1225C>A (p.Gln409Lys)
|
rs139104492
|
0.00004
|
NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn)
|
rs45514002
|
0.00004
|
NM_007078.3(LDB3):c.784G>A (p.Glu262Lys)
|
rs374168618
|
0.00004
|
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg)
|
rs397517231
|
0.00004
|
NM_014000.3(VCL):c.1192C>T (p.Pro398Ser)
|
rs201528612
|
0.00004
|
NM_014000.3(VCL):c.1511T>C (p.Ile504Thr)
|
rs745343813
|
0.00004
|
NM_014000.3(VCL):c.1928C>T (p.Thr643Met)
|
rs150643310
|
0.00004
|
NM_014000.3(VCL):c.2046A>T (p.Leu682Phe)
|
rs565398652
|
0.00004
|
NM_014000.3(VCL):c.2399A>T (p.Asp800Val)
|
rs919509789
|
0.00004
|
NM_014000.3(VCL):c.3092G>A (p.Arg1031Gln)
|
rs397517238
|
0.00004
|
NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu)
|
rs145669999
|
0.00004
|
NM_016203.4(PRKAG2):c.590C>T (p.Pro197Leu)
|
rs368637364
|
0.00004
|
NM_016599.5(MYOZ2):c.674C>T (p.Pro225Leu)
|
rs200428820
|
0.00004
|
NM_020297.4(ABCC9):c.1849G>A (p.Asp617Asn)
|
rs757681761
|
0.00004
|
NM_020297.4(ABCC9):c.2599G>A (p.Val867Ile)
|
rs376754153
|
0.00004
|
NM_020297.4(ABCC9):c.3061G>A (p.Glu1021Lys)
|
rs749668601
|
0.00004
|
NM_020297.4(ABCC9):c.4205C>G (p.Ser1402Cys)
|
rs369587958
|
0.00004
|
NM_020433.5(JPH2):c.1033G>C (p.Val345Leu)
|
rs748233107
|
0.00004
|
NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter)
|
rs199896820
|
0.00004
|
NM_020433.5(JPH2):c.299C>T (p.Ser100Leu)
|
rs145401873
|
0.00004
|
NM_022114.4(PRDM16):c.2467C>T (p.Arg823Cys)
|
rs932569189
|
0.00004
|
NM_022114.4(PRDM16):c.445G>A (p.Glu149Lys)
|
rs576922307
|
0.00004
|
NM_024334.3(TMEM43):c.121A>G (p.Met41Val)
|
rs144334386
|
0.00004
|
NM_024334.3(TMEM43):c.402C>T (p.Thr134=)
|
rs370422391
|
0.00004
|
NM_024334.3(TMEM43):c.447dup (p.Glu150Ter)
|
rs1423539317
|
0.00004
|
NM_024334.3(TMEM43):c.487C>T (p.Arg163Ter)
|
rs147336367
|
0.00004
|
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met)
|
rs780389237
|
0.00004
|
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)
|
rs199526104
|
0.00004
|
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn)
|
rs762055797
|
0.00004
|
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg)
|
rs139290300
|
0.00004
|
NM_024422.6(DSC2):c.2366G>A (p.Gly789Glu)
|
rs766828422
|
0.00004
|
NM_024422.6(DSC2):c.239A>G (p.Tyr80Cys)
|
rs369761766
|
0.00004
|
NM_024422.6(DSC2):c.286A>G (p.Ile96Val)
|
rs772447450
|
0.00004
|
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr)
|
rs200218585
|
0.00004
|
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met)
|
rs117945277
|
0.00004
|
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln)
|
rs151133017
|
0.00004
|
NM_032578.4(MYPN):c.1518T>G (p.Phe506Leu)
|
rs780297988
|
0.00004
|
NM_032578.4(MYPN):c.1789C>T (p.Arg597Cys)
|
rs367570424
|
0.00004
|
NM_032578.4(MYPN):c.2565-7C>T
|
rs373241021
|
0.00004
|
NM_032578.4(MYPN):c.3272G>A (p.Arg1091Gln)
|
rs768452699
|
0.00004
|
NM_133379.5(TTN):c.10645C>T (p.Arg3549Cys)
|
rs201047740
|
0.00004
|
NM_133379.5(TTN):c.12973C>T (p.Arg4325Cys)
|
rs142273664
|
0.00004
|
NM_133379.5(TTN):c.13153G>T (p.Asp4385Tyr)
|
rs374639358
|
0.00004
|
NM_133379.5(TTN):c.13951A>G (p.Ser4651Gly)
|
rs190193836
|
0.00004
|
NM_133379.5(TTN):c.15230C>T (p.Pro5077Leu)
|
rs757243046
|
0.00004
|
NM_133379.5(TTN):c.16516G>T (p.Glu5506Ter)
|
rs148430495
|
0.00004
|
NM_144573.4(NEXN):c.1010T>C (p.Ile337Thr)
|
rs749553777
|
0.00004
|
NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter)
|
rs750076188
|
0.00004
|
NM_144573.4(NEXN):c.1471G>C (p.Glu491Gln)
|
rs373057251
|
0.00004
|
NM_144573.4(NEXN):c.1595T>C (p.Ile532Thr)
|
rs754656961
|
0.00004
|
NM_144573.4(NEXN):c.836G>A (p.Arg279His)
|
rs750349053
|
0.00004
|
NM_144573.4(NEXN):c.967G>A (p.Glu323Lys)
|
rs1196365963
|
0.00004
|
NM_170707.4(LMNA):c.1255C>T (p.Arg419Cys)
|
rs755686359
|
0.00004
|
NM_170707.4(LMNA):c.1299C>T (p.His433=)
|
rs61217436
|
0.00004
|
NM_170707.4(LMNA):c.467G>A (p.Arg156His)
|
rs764475194
|
0.00004
|
NM_170707.4(LMNA):c.692A>G (p.Asn231Ser)
|
rs760388350
|
0.00004
|
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser)
|
rs765241364
|
0.00004
|
NM_182914.3(SYNE2):c.12492+12C>T
|
rs368374335
|
0.00004
|
NM_182914.3(SYNE2):c.13159-7A>G
|
rs759110381
|
0.00004
|
NM_182961.4(SYNE1):c.15918-12A>G
|
rs606231134
|
0.00004
|
NM_182961.4(SYNE1):c.5230G>A (p.Glu1744Lys)
|
rs540091060
|
0.00004
|
NM_182961.4(SYNE1):c.9814G>C (p.Val3272Leu)
|
rs368607560
|
0.00004
|
NM_000018.4(ACADVL):c.1182+1G>A
|
rs113690956
|
0.00003
|
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)
|
rs751995154
|
0.00003
|
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)
|
rs118204014
|
0.00003
|
NM_000023.4(SGCA):c.293G>A (p.Arg98His)
|
rs137852621
|
0.00003
|
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)
|
rs768814872
|
0.00003
|
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
NM_000117.3(EMD):c.173C>T (p.Ser58Phe)
|
rs781797234
|
0.00003
|
NM_000117.3(EMD):c.399+10C>T
|
rs375654959
|
0.00003
|
NM_000117.3(EMD):c.449+5G>A
|
rs370840449
|
0.00003
|
NM_000126.4(ETFA):c.197A>G (p.Asp66Gly)
|
rs201888260
|
0.00003
|
NM_000152.5(GAA):c.1264C>T (p.Arg422Trp)
|
rs776704385
|
0.00003
|
NM_000152.5(GAA):c.1849G>A (p.Val617Met)
|
rs767977395
|
0.00003
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)
|
rs121907938
|
0.00003
|
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415
|
0.00003
|
NM_000152.5(GAA):c.307T>G (p.Cys103Gly)
|
rs398123174
|
0.00003
|
NM_000152.5(GAA):c.426C>A (p.Ser142Arg)
|
rs762255493
|
0.00003
|
NM_000152.5(GAA):c.546G>A (p.Thr182=)
|
rs143523371
|
0.00003
|
NM_000152.5(GAA):c.686G>A (p.Arg229His)
|
rs776509432
|
0.00003
|
NM_000152.5(GAA):c.877G>A (p.Gly293Arg)
|
rs121907945
|
0.00003
|
NM_000152.5(GAA):c.925G>A (p.Gly309Arg)
|
rs543300039
|
0.00003
|
NM_000157.4(GBA1):c.762-1G>C
|
rs1237637353
|
0.00003
|
NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr)
|
rs752725918
|
0.00003
|
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)
|
rs121965021
|
0.00003
|
NM_000203.5(IDUA):c.1614del (p.His539fs)
|
rs727503967
|
0.00003
|
NM_000218.3(KCNQ1):c.1238A>G (p.Lys413Arg)
|
rs1351149628
|
0.00003
|
NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys)
|
rs199472787
|
0.00003
|
NM_000218.3(KCNQ1):c.1936G>A (p.Gly646Ser)
|
rs763478809
|
0.00003
|
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His)
|
rs199472709
|
0.00003
|
NM_000231.3(SGCG):c.1-3C>T
|
rs373335254
|
0.00003
|
NM_000256.3(MYBPC3):c.103C>T (p.Arg35Trp)
|
rs727504249
|
0.00003
|
NM_000256.3(MYBPC3):c.121C>T (p.Arg41Cys)
|
rs373638535
|
0.00003
|
NM_000256.3(MYBPC3):c.1601C>T (p.Ala534Val)
|
rs374349666
|
0.00003
|
NM_000256.3(MYBPC3):c.2063C>A (p.Thr688Lys)
|
rs3729946
|
0.00003
|
NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His)
|
rs534345197
|
0.00003
|
NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met)
|
rs727503189
|
0.00003
|
NM_000256.3(MYBPC3):c.2683C>T (p.Arg895Cys)
|
rs374976635
|
0.00003
|
NM_000256.3(MYBPC3):c.2828G>A (p.Arg943Gln)
|
rs397515986
|
0.00003
|
NM_000256.3(MYBPC3):c.3229G>T (p.Ala1077Ser)
|
rs397516009
|
0.00003
|
NM_000257.4(MYH7):c.1608G>A (p.Glu536=)
|
rs397516115
|
0.00003
|
NM_000257.4(MYH7):c.2081G>A (p.Arg694His)
|
rs886039030
|
0.00003
|
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
|
rs3218716
|
0.00003
|
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)
|
rs2754158
|
0.00003
|
NM_000257.4(MYH7):c.3100-2A>C
|
rs759013925
|
0.00003
|
NM_000257.4(MYH7):c.3779G>A (p.Arg1260Gln)
|
rs747308839
|
0.00003
|
NM_000257.4(MYH7):c.4894G>A (p.Ala1632Thr)
|
rs565663412
|
0.00003
|
NM_000257.4(MYH7):c.639+5G>T
|
rs765724983
|
0.00003
|
NM_000257.4(MYH7):c.895+12C>T
|
rs186276057
|
0.00003
|
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His)
|
rs199473101
|
0.00003
|
NM_000335.5(SCN5A):c.1557T>C (p.Ser519=)
|
rs371560571
|
0.00003
|
NM_000335.5(SCN5A):c.1703G>A (p.Arg568His)
|
rs199473125
|
0.00003
|
NM_000335.5(SCN5A):c.1706G>A (p.Arg569Gln)
|
rs769292594
|
0.00003
|
NM_000335.5(SCN5A):c.1859G>A (p.Arg620His)
|
rs746504626
|
0.00003
|
NM_000335.5(SCN5A):c.1880C>T (p.Pro627Leu)
|
rs778522112
|
0.00003
|
NM_000335.5(SCN5A):c.2262+18C>G
|
rs1011934257
|
0.00003
|
NM_000335.5(SCN5A):c.2924G>A (p.Arg975Gln)
|
rs753149586
|
0.00003
|
NM_000335.5(SCN5A):c.3093C>T (p.Gly1031=)
|
rs755980331
|
0.00003
|
NM_000335.5(SCN5A):c.3389C>T (p.Thr1130Ile)
|
rs199473197
|
0.00003
|
NM_000335.5(SCN5A):c.3460C>T (p.Pro1154Ser)
|
rs781103369
|
0.00003
|
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln)
|
rs199473211
|
0.00003
|
NM_000335.5(SCN5A):c.3914G>A (p.Arg1305His)
|
rs730880207
|
0.00003
|
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)
|
rs199473220
|
0.00003
|
NM_000335.5(SCN5A):c.4339A>C (p.Ile1447Leu)
|
rs199473250
|
0.00003
|
NM_000335.5(SCN5A):c.44G>C (p.Arg15Thr)
|
rs373410109
|
0.00003
|
NM_000335.5(SCN5A):c.4786G>A (p.Val1596Met)
|
rs199473279
|
0.00003
|
NM_000335.5(SCN5A):c.5464G>A (p.Glu1822Lys)
|
rs760837591
|
0.00003
|
NM_000335.5(SCN5A):c.5809G>A (p.Glu1937Lys)
|
rs199473329
|
0.00003
|
NM_000335.5(SCN5A):c.5968C>T (p.Arg1990Trp)
|
rs371308670
|
0.00003
|
NM_000337.5(SGCD):c.-135C>T
|
rs886060284
|
0.00003
|
NM_000337.6(SGCD):c.*3580G>A
|
rs1214313359
|
0.00003
|
NM_000337.6(SGCD):c.-43-1G>A
|
rs767016855
|
0.00003
|
NM_000337.6(SGCD):c.458A>G (p.Asp153Gly)
|
rs752000538
|
0.00003
|
NM_000337.6(SGCD):c.494G>A (p.Arg165Gln)
|
rs727503423
|
0.00003
|
NM_000337.6(SGCD):c.593G>A (p.Arg198Gln)
|
rs750459196
|
0.00003
|
NM_000337.6(SGCD):c.699+72A>C
|
rs376317697
|
0.00003
|
NM_000337.6(SGCD):c.716C>T (p.Ala239Val)
|
rs377153196
|
0.00003
|
NM_000371.4(TTR):c.-15C>T
|
rs746692906
|
0.00003
|
NM_000371.4(TTR):c.370C>T (p.Arg124Cys)
|
rs745834030
|
0.00003
|
NM_000371.4(TTR):c.70-20C>T
|
rs773578107
|
0.00003
|
NM_000432.4(MYL2):c.375G>A (p.Thr125=)
|
rs190020833
|
0.00003
|
NM_000432.4(MYL2):c.49G>A (p.Val17Met)
|
rs730880943
|
0.00003
|
NM_000447.3(PSEN2):c.1001C>G (p.Pro334Arg)
|
rs63750207
|
0.00003
|
NM_000475.5(NR0B1):c.1176G>A (p.Pro392=)
|
rs778616722
|
0.00003
|
NM_001005242.3(PKP2):c.1519G>A (p.Asp507Asn)
|
rs763427502
|
0.00003
|
NM_001005242.3(PKP2):c.2014-1G>C
|
rs193922674
|
0.00003
|
NM_001005242.3(PKP2):c.259G>C (p.Val87Leu)
|
rs750028032
|
0.00003
|
NM_001035.3(RYR2):c.1024G>A (p.Val342Met)
|
rs371898166
|
0.00003
|
NM_001035.3(RYR2):c.1241G>A (p.Arg414His)
|
rs371121679
|
0.00003
|
NM_001035.3(RYR2):c.2617G>A (p.Val873Met)
|
rs369248015
|
0.00003
|
NM_001035.3(RYR2):c.294+3A>G
|
rs1321804058
|
0.00003
|
NM_001035.3(RYR2):c.295A>C (p.Lys99Gln)
|
rs1172697175
|
0.00003
|
NM_001035.3(RYR2):c.3214+7T>G
|
rs748941127
|
0.00003
|
NM_001035.3(RYR2):c.3660T>A (p.Asp1220Glu)
|
rs1019112544
|
0.00003
|
NM_001035.3(RYR2):c.3827C>T (p.Thr1276Ile)
|
rs762899950
|
0.00003
|
NM_001035.3(RYR2):c.5761C>T (p.Arg1921Trp)
|
rs760010432
|
0.00003
|
NM_001035.3(RYR2):c.719A>G (p.His240Arg)
|
rs369512347
|
0.00003
|
NM_001035.3(RYR2):c.7354G>A (p.Val2452Met)
|
rs377136047
|
0.00003
|
NM_001035.3(RYR2):c.8936G>A (p.Arg2979His)
|
rs753179691
|
0.00003
|
NM_001042475.3(CEP85L):c.1020+5224G>A
|
rs886061007
|
0.00003
|
NM_001042475.3(CEP85L):c.1020+5314G>A
|
rs886061005
|
0.00003
|
NM_001079802.2(FKTN):c.1249G>A (p.Glu417Lys)
|
rs765934383
|
0.00003
|
NM_001079802.2(FKTN):c.1357G>A (p.Glu453Lys)
|
rs759936979
|
0.00003
|
NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln)
|
rs753641411
|
0.00003
|
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr)
|
rs373418195
|
0.00003
|
NM_001103.4(ACTN2):c.1295C>T (p.Ala432Val)
|
rs767291633
|
0.00003
|
NM_001103.4(ACTN2):c.1589A>G (p.Asn530Ser)
|
rs1384783399
|
0.00003
|
NM_001103.4(ACTN2):c.1984C>T (p.Arg662Trp)
|
rs150021739
|
0.00003
|
NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr)
|
rs777744290
|
0.00003
|
NM_001103.4(ACTN2):c.2567C>T (p.Pro856Leu)
|
rs375588211
|
0.00003
|
NM_001103.4(ACTN2):c.2676C>T (p.Ser892=)
|
rs397516578
|
0.00003
|
NM_001103.4(ACTN2):c.983G>A (p.Arg328Gln)
|
rs774046373
|
0.00003
|
NM_001105206.3(LAMA4):c.1057G>A (p.Val353Ile)
|
rs781919461
|
0.00003
|
NM_001105206.3(LAMA4):c.2302C>T (p.His768Tyr)
|
rs140107576
|
0.00003
|
NM_001105206.3(LAMA4):c.2635G>C (p.Asp879His)
|
rs371253565
|
0.00003
|
NM_001105206.3(LAMA4):c.3697-3C>T
|
rs536295629
|
0.00003
|
NM_001105206.3(LAMA4):c.4235T>C (p.Leu1412Pro)
|
rs376369192
|
0.00003
|
NM_001105206.3(LAMA4):c.5254A>G (p.Asn1752Asp)
|
rs371370857
|
0.00003
|
NM_001105206.3(LAMA4):c.964A>C (p.Lys322Gln)
|
rs1375382054
|
0.00003
|
NM_001122630.2(CDKN1C):c.105G>A (p.Leu35=)
|
rs762337324
|
0.00003
|
NM_001122630.2(CDKN1C):c.225G>C (p.Ser75=)
|
rs1015104953
|
0.00003
|
NM_001122630.2(CDKN1C):c.317C>G (p.Pro106Arg)
|
rs945890937
|
0.00003
|
NM_001122630.2(CDKN1C):c.815C>T (p.Ala272Val)
|
rs776541692
|
0.00003
|
NM_001134363.3(RBM20):c.*2054T>C
|
rs867192062
|
0.00003
|
NM_001134363.3(RBM20):c.*511G>A
|
rs886046709
|
0.00003
|
NM_001134363.3(RBM20):c.*965G>A
|
rs886046711
|
0.00003
|
NM_001134363.3(RBM20):c.1066A>C (p.Thr356Pro)
|
rs1021465138
|
0.00003
|
NM_001134363.3(RBM20):c.1815C>T (p.Ala605=)
|
rs577194741
|
0.00003
|
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile)
|
rs369747752
|
0.00003
|
NM_001134363.3(RBM20):c.3023G>C (p.Arg1008Pro)
|
rs886038858
|
0.00003
|
NM_001134363.3(RBM20):c.3226G>T (p.Ala1076Ser)
|
rs780673583
|
0.00003
|
NM_001134363.3(RBM20):c.3271G>A (p.Glu1091Lys)
|
rs565524160
|
0.00003
|
NM_001134363.3(RBM20):c.811G>A (p.Gly271Arg)
|
rs989951034
|
0.00003
|
NM_001232.4(CASQ2):c.491A>G (p.Tyr164Cys)
|
rs72554062
|
0.00003
|
NM_001232.4(CASQ2):c.752G>A (p.Arg251His)
|
rs200265771
|
0.00003
|
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu)
|
rs139228801
|
0.00003
|
NM_001232.4(CASQ2):c.943G>A (p.Val315Ile)
|
rs771188512
|
0.00003
|
NM_001267550.2(TTN):c.100390G>A (p.Glu33464Lys)
|
rs374920916
|
0.00003
|
NM_001267550.2(TTN):c.10046C>T (p.Thr3349Ile)
|
rs727503678
|
0.00003
|
NM_001267550.2(TTN):c.100829G>A (p.Gly33610Asp)
|
rs373754986
|
0.00003
|
NM_001267550.2(TTN):c.102105T>A (p.Asp34035Glu)
|
rs370647845
|
0.00003
|
NM_001267550.2(TTN):c.102125T>C (p.Ile34042Thr)
|
rs373173599
|
0.00003
|
NM_001267550.2(TTN):c.103829G>A (p.Arg34610His)
|
rs550047610
|
0.00003
|
NM_001267550.2(TTN):c.103906C>T (p.Arg34636Cys)
|
rs768575577
|
0.00003
|
NM_001267550.2(TTN):c.104570T>C (p.Leu34857Pro)
|
rs368765896
|
0.00003
|
NM_001267550.2(TTN):c.105141G>A (p.Glu35047=)
|
rs752897450
|
0.00003
|
NM_001267550.2(TTN):c.105590G>A (p.Gly35197Asp)
|
rs397517796
|
0.00003
|
NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu)
|
rs766440492
|
0.00003
|
NM_001267550.2(TTN):c.1245+3A>G
|
rs757221300
|
0.00003
|
NM_001267550.2(TTN):c.13015G>A (p.Val4339Ile)
|
rs756186781
|
0.00003
|
NM_001267550.2(TTN):c.13371C>T (p.Ile4457=)
|
rs570991398
|
0.00003
|
NM_001267550.2(TTN):c.15196A>G (p.Ser5066Gly)
|
rs756793304
|
0.00003
|
NM_001267550.2(TTN):c.15634G>A (p.Gly5212Arg)
|
rs377754692
|
0.00003
|
NM_001267550.2(TTN):c.15716C>T (p.Thr5239Met)
|
rs756844952
|
0.00003
|
NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met)
|
rs72648936
|
0.00003
|
NM_001267550.2(TTN):c.16351A>G (p.Ser5451Gly)
|
rs760722200
|
0.00003
|
NM_001267550.2(TTN):c.16369G>A (p.Gly5457Ser)
|
rs774425875
|
0.00003
|
NM_001267550.2(TTN):c.19118A>G (p.Glu6373Gly)
|
rs367868361
|
0.00003
|
NM_001267550.2(TTN):c.19528A>G (p.Ile6510Val)
|
rs761041978
|
0.00003
|
NM_001267550.2(TTN):c.2083G>A (p.Val695Ile)
|
rs747479318
|
0.00003
|
NM_001267550.2(TTN):c.21163G>T (p.Gly7055Trp)
|
rs375219301
|
0.00003
|
NM_001267550.2(TTN):c.22513A>G (p.Arg7505Gly)
|
rs372826489
|
0.00003
|
NM_001267550.2(TTN):c.22772A>G (p.Asn7591Ser)
|
rs368750726
|
0.00003
|
NM_001267550.2(TTN):c.24482G>A (p.Cys8161Tyr)
|
rs372143487
|
0.00003
|
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys)
|
rs549604128
|
0.00003
|
NM_001267550.2(TTN):c.25180T>G (p.Tyr8394Asp)
|
rs898098652
|
0.00003
|
NM_001267550.2(TTN):c.28456A>G (p.Ile9486Val)
|
rs1327402224
|
0.00003
|
NM_001267550.2(TTN):c.29062G>C (p.Ala9688Pro)
|
rs749146795
|
0.00003
|
NM_001267550.2(TTN):c.29785G>A (p.Glu9929Lys)
|
rs1204774037
|
0.00003
|
NM_001267550.2(TTN):c.31594G>A (p.Val10532Ile)
|
rs763955552
|
0.00003
|
NM_001267550.2(TTN):c.31672C>A (p.Pro10558Thr)
|
rs769915175
|
0.00003
|
NM_001267550.2(TTN):c.3235C>A (p.Pro1079Thr)
|
rs774643116
|
0.00003
|
NM_001267550.2(TTN):c.32653A>T (p.Met10885Leu)
|
rs200732179
|
0.00003
|
NM_001267550.2(TTN):c.34072G>T (p.Val11358Phe)
|
rs1227088008
|
0.00003
|
NM_001267550.2(TTN):c.35717C>G (p.Pro11906Arg)
|
rs781317174
|
0.00003
|
NM_001267550.2(TTN):c.36427C>T (p.Pro12143Ser)
|
rs779794774
|
0.00003
|
NM_001267550.2(TTN):c.38681A>G (p.Lys12894Arg)
|
rs574694398
|
0.00003
|
NM_001267550.2(TTN):c.39895+16del
|
rs761838184
|
0.00003
|
NM_001267550.2(TTN):c.41932G>A (p.Glu13978Lys)
|
rs746667196
|
0.00003
|
NM_001267550.2(TTN):c.43538G>A (p.Ser14513Asn)
|
rs557216748
|
0.00003
|
NM_001267550.2(TTN):c.44366A>G (p.Tyr14789Cys)
|
rs397517577
|
0.00003
|
NM_001267550.2(TTN):c.44916T>A (p.Val14972=)
|
rs373390402
|
0.00003
|
NM_001267550.2(TTN):c.4532G>A (p.Gly1511Asp)
|
rs751606948
|
0.00003
|
NM_001267550.2(TTN):c.46516G>C (p.Asp15506His)
|
rs755611206
|
0.00003
|
NM_001267550.2(TTN):c.46984C>T (p.Arg15662Cys)
|
rs762723635
|
0.00003
|
NM_001267550.2(TTN):c.47090G>A (p.Arg15697His)
|
rs757663389
|
0.00003
|
NM_001267550.2(TTN):c.47570T>C (p.Ile15857Thr)
|
rs886055272
|
0.00003
|
NM_001267550.2(TTN):c.49648+2del
|
rs727504851
|
0.00003
|
NM_001267550.2(TTN):c.50479C>T (p.Arg16827Trp)
|
rs727503620
|
0.00003
|
NM_001267550.2(TTN):c.52706C>A (p.Ser17569Tyr)
|
rs756689649
|
0.00003
|
NM_001267550.2(TTN):c.52831G>A (p.Val17611Ile)
|
rs748265704
|
0.00003
|
NM_001267550.2(TTN):c.53926A>G (p.Ile17976Val)
|
rs371424482
|
0.00003
|
NM_001267550.2(TTN):c.55206C>A (p.Ile18402=)
|
rs368272978
|
0.00003
|
NM_001267550.2(TTN):c.5644C>T (p.Arg1882Cys)
|
rs397517658
|
0.00003
|
NM_001267550.2(TTN):c.57300T>G (p.Asp19100Glu)
|
rs876658069
|
0.00003
|
NM_001267550.2(TTN):c.57508G>A (p.Gly19170Arg)
|
rs750947988
|
0.00003
|
NM_001267550.2(TTN):c.57848-4G>A
|
rs369462016
|
0.00003
|
NM_001267550.2(TTN):c.58073G>A (p.Arg19358His)
|
rs1023184567
|
0.00003
|
NM_001267550.2(TTN):c.61915T>C (p.Tyr20639His)
|
rs727503587
|
0.00003
|
NM_001267550.2(TTN):c.63185T>G (p.Ile21062Arg)
|
rs575313522
|
0.00003
|
NM_001267550.2(TTN):c.63793G>A (p.Asp21265Asn)
|
rs794729474
|
0.00003
|
NM_001267550.2(TTN):c.64048G>A (p.Val21350Ile)
|
rs772377673
|
0.00003
|
NM_001267550.2(TTN):c.66566T>C (p.Ile22189Thr)
|
rs369934753
|
0.00003
|
NM_001267550.2(TTN):c.6668A>T (p.His2223Leu)
|
rs372979075
|
0.00003
|
NM_001267550.2(TTN):c.6953G>A (p.Arg2318His)
|
rs761566436
|
0.00003
|
NM_001267550.2(TTN):c.6995A>G (p.Asp2332Gly)
|
rs749655939
|
0.00003
|
NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe)
|
rs372309164
|
0.00003
|
NM_001267550.2(TTN):c.73304G>A (p.Arg24435His)
|
rs794727456
|
0.00003
|
NM_001267550.2(TTN):c.73859C>T (p.Pro24620Leu)
|
rs370763285
|
0.00003
|
NM_001267550.2(TTN):c.74814T>A (p.Ser24938Arg)
|
rs747593205
|
0.00003
|
NM_001267550.2(TTN):c.76088G>A (p.Arg25363His)
|
rs749274818
|
0.00003
|
NM_001267550.2(TTN):c.77093T>G (p.Val25698Gly)
|
rs759278736
|
0.00003
|
NM_001267550.2(TTN):c.77185A>T (p.Lys25729Ter)
|
rs542074139
|
0.00003
|
NM_001267550.2(TTN):c.79281C>G (p.Asp26427Glu)
|
rs766994654
|
0.00003
|
NM_001267550.2(TTN):c.79481C>T (p.Ala26494Val)
|
rs368484949
|
0.00003
|
NM_001267550.2(TTN):c.79514C>T (p.Thr26505Ile)
|
rs886042786
|
0.00003
|
NM_001267550.2(TTN):c.84976C>T (p.Arg28326Trp)
|
rs749633038
|
0.00003
|
NM_001267550.2(TTN):c.86974T>C (p.Cys28992Arg)
|
rs769162510
|
0.00003
|
NM_001267550.2(TTN):c.87815A>G (p.Tyr29272Cys)
|
rs886039083
|
0.00003
|
NM_001267550.2(TTN):c.88787C>G (p.Thr29596Ser)
|
rs786205371
|
0.00003
|
NM_001267550.2(TTN):c.91520C>T (p.Pro30507Leu)
|
rs774107448
|
0.00003
|
NM_001267550.2(TTN):c.93392T>G (p.Val31131Gly)
|
rs1176407616
|
0.00003
|
NM_001267550.2(TTN):c.93886G>A (p.Val31296Ile)
|
rs794729534
|
0.00003
|
NM_001267550.2(TTN):c.95566C>T (p.Arg31856Cys)
|
rs72648261
|
0.00003
|
NM_001267550.2(TTN):c.96198C>G (p.Ser32066Arg)
|
rs747323263
|
0.00003
|
NM_001267550.2(TTN):c.96434G>A (p.Arg32145His)
|
rs759948951
|
0.00003
|
NM_001267550.2(TTN):c.96644C>G (p.Thr32215Ser)
|
rs975713554
|
0.00003
|
NM_001267550.2(TTN):c.9679A>T (p.Ser3227Cys)
|
rs886042755
|
0.00003
|
NM_001267550.2(TTN):c.9683C>G (p.Ser3228Cys)
|
rs371249764
|
0.00003
|
NM_001267550.2(TTN):c.96934C>T (p.Pro32312Ser)
|
rs1024823449
|
0.00003
|
NM_001267550.2(TTN):c.9713C>T (p.Pro3238Leu)
|
rs397517792
|
0.00003
|
NM_001267550.2(TTN):c.98591T>C (p.Val32864Ala)
|
rs201257063
|
0.00003
|
NM_001267550.2(TTN):c.99752A>G (p.Tyr33251Cys)
|
rs377456237
|
0.00003
|
NM_001276345.2(TNNT2):c.617G>A (p.Arg206Gln)
|
rs371047521
|
0.00003
|
NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala)
|
rs145768025
|
0.00003
|
NM_001289808.2(CRYAB):c.119C>T (p.Thr40Met)
|
rs782122417
|
0.00003
|
NM_001289808.2(CRYAB):c.65G>A (p.Arg22His)
|
rs782316391
|
0.00003
|
NM_001458.5(FLNC):c.1471G>A (p.Val491Met)
|
rs770264114
|
0.00003
|
NM_001458.5(FLNC):c.2500A>G (p.Thr834Ala)
|
rs781169622
|
0.00003
|
NM_001458.5(FLNC):c.4000G>A (p.Ala1334Thr)
|
rs556477946
|
0.00003
|
NM_001458.5(FLNC):c.4911C>G (p.Ser1637Arg)
|
rs1469272964
|
0.00003
|
NM_001458.5(FLNC):c.5165G>C (p.Gly1722Ala)
|
rs775405275
|
0.00003
|
NM_001458.5(FLNC):c.5377G>A (p.Val1793Met)
|
rs587780337
|
0.00003
|
NM_001458.5(FLNC):c.5984G>A (p.Arg1995His)
|
rs371508414
|
0.00003
|
NM_001458.5(FLNC):c.7823C>T (p.Thr2608Met)
|
rs1175931652
|
0.00003
|
NM_001458.5(FLNC):c.7948G>A (p.Val2650Met)
|
rs372172779
|
0.00003
|
NM_001927.4(DES):c.1064G>A (p.Arg355Gln)
|
rs61368398
|
0.00003
|
NM_001927.4(DES):c.226del (p.Thr76fs)
|
rs1399282762
|
0.00003
|
NM_001927.4(DES):c.229A>G (p.Thr77Ala)
|
rs769034192
|
0.00003
|
NM_001927.4(DES):c.233G>T (p.Arg78Leu)
|
rs573916832
|
0.00003
|
NM_001927.4(DES):c.391C>A (p.Gln131Lys)
|
rs771499260
|
0.00003
|
NM_001943.5(DSG2):c.122A>T (p.His41Leu)
|
rs777373864
|
0.00003
|
NM_001943.5(DSG2):c.1555G>T (p.Asp519Tyr)
|
rs778119035
|
0.00003
|
NM_001943.5(DSG2):c.216+3A>C
|
rs774208829
|
0.00003
|
NM_001943.5(DSG2):c.2340G>T (p.Ala780=)
|
rs375539435
|
0.00003
|
NM_001943.5(DSG2):c.2510C>A (p.Ala837Asp)
|
rs756338201
|
0.00003
|
NM_001943.5(DSG2):c.2960T>C (p.Val987Ala)
|
rs727502991
|
0.00003
|
NM_001943.5(DSG2):c.721G>A (p.Ala241Thr)
|
rs371918777
|
0.00003
|
NM_001943.5(DSG2):c.806T>C (p.Ile269Thr)
|
rs727502986
|
0.00003
|
NM_002230.4(JUP):c.1099C>G (p.Arg367Gly)
|
rs76416187
|
0.00003
|
NM_002230.4(JUP):c.1290A>G (p.Thr430=)
|
rs897549158
|
0.00003
|
NM_002230.4(JUP):c.1430G>A (p.Arg477His)
|
rs781788038
|
0.00003
|
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys)
|
rs782354654
|
0.00003
|
NM_002230.4(JUP):c.1933G>A (p.Ala645Thr)
|
rs727504778
|
0.00003
|
NM_002471.4(MYH6):c.2065C>A (p.Pro689Thr)
|
rs748016197
|
0.00003
|
NM_002471.4(MYH6):c.233A>G (p.Gln78Arg)
|
rs772216708
|
0.00003
|
NM_002471.4(MYH6):c.2399G>A (p.Arg800His)
|
rs535438755
|
0.00003
|
NM_002471.4(MYH6):c.2827C>T (p.Arg943Cys)
|
rs368912844
|
0.00003
|
NM_002471.4(MYH6):c.2984C>G (p.Thr995Ser)
|
rs753891816
|
0.00003
|
NM_002471.4(MYH6):c.3755G>A (p.Arg1252Gln)
|
rs759454361
|
0.00003
|
NM_002471.4(MYH6):c.4768C>A (p.Arg1590Ser)
|
rs544624250
|
0.00003
|
NM_002471.4(MYH6):c.4829G>A (p.Arg1610His)
|
rs758792342
|
0.00003
|
NM_002471.4(MYH6):c.530+6C>T
|
rs374289431
|
0.00003
|
NM_002471.4(MYH6):c.5367G>A (p.Glu1789=)
|
rs753335327
|
0.00003
|
NM_002471.4(MYH6):c.5593C>T (p.Arg1865Trp)
|
rs759499155
|
0.00003
|
NM_002471.4(MYH6):c.5780G>T (p.Arg1927Leu)
|
rs730880152
|
0.00003
|
NM_002667.5(PLN):c.53T>C (p.Ile18Thr)
|
rs1029766634
|
0.00003
|
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr)
|
rs779236638
|
0.00003
|
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe)
|
rs397507525
|
0.00003
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
NM_003239.5(TGFB3):c.591C>T (p.Ala197=)
|
rs375090568
|
0.00003
|
NM_003239.5(TGFB3):c.859C>T (p.Arg287Trp)
|
rs757774610
|
0.00003
|
NM_003476.5(CSRP3):c.*575T>C
|
rs886048093
|
0.00003
|
NM_003476.5(CSRP3):c.140C>T (p.Thr47Met)
|
rs397516851
|
0.00003
|
NM_003673.4(TCAP):c.208C>T (p.Arg70Trp)
|
rs775636212
|
0.00003
|
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)
|
rs201217593
|
0.00003
|
NM_004006.3(DMD):c.1183C>T (p.Arg395Trp)
|
rs780356433
|
0.00003
|
NM_004006.3(DMD):c.1462C>T (p.Arg488Cys)
|
rs758932385
|
0.00003
|
NM_004006.3(DMD):c.1812+1G>A
|
rs373286166
|
0.00003
|
NM_004006.3(DMD):c.1988C>T (p.Ala663Val)
|
rs41309715
|
0.00003
|
NM_004006.3(DMD):c.2323A>G (p.Arg775Gly)
|
rs886038905
|
0.00003
|
NM_004006.3(DMD):c.2518C>G (p.Gln840Glu)
|
rs398123892
|
0.00003
|
NM_004006.3(DMD):c.2912A>T (p.Asp971Val)
|
rs762154042
|
0.00003
|
NM_004006.3(DMD):c.3344T>C (p.Ile1115Thr)
|
rs748123444
|
0.00003
|
NM_004006.3(DMD):c.4483C>G (p.Gln1495Glu)
|
rs748769566
|
0.00003
|
NM_004006.3(DMD):c.5869C>T (p.Arg1957Trp)
|
rs755477994
|
0.00003
|
NM_004006.3(DMD):c.626T>C (p.Ile209Thr)
|
rs372832497
|
0.00003
|
NM_004006.3(DMD):c.6572G>A (p.Arg2191Gln)
|
rs756238158
|
0.00003
|
NM_004006.3(DMD):c.6726A>G (p.Lys2242=)
|
rs145993057
|
0.00003
|
NM_004006.3(DMD):c.8239G>A (p.Ala2747Thr)
|
rs772732788
|
0.00003
|
NM_004100.5(EYA4):c.*3267C>A
|
rs886061099
|
0.00003
|
NM_004100.5(EYA4):c.1067G>A (p.Arg356Gln)
|
rs762144530
|
0.00003
|
NM_004100.5(EYA4):c.860C>T (p.Ala287Val)
|
rs374522988
|
0.00003
|
NM_004168.4(SDHA):c.1324G>A (p.Ala442Thr)
|
rs754893758
|
0.00003
|
NM_004168.4(SDHA):c.154T>A (p.Ser52Thr)
|
rs150326789
|
0.00003
|
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)
|
rs781764920
|
0.00003
|
NM_004168.4(SDHA):c.424A>G (p.Met142Val)
|
rs776848209
|
0.00003
|
NM_004168.4(SDHA):c.607A>G (p.Thr203Ala)
|
rs373340696
|
0.00003
|
NM_004168.4(SDHA):c.613T>C (p.Tyr205His)
|
rs61754481
|
0.00003
|
NM_004281.4(BAG3):c.1312G>T (p.Ala438Ser)
|
rs1031608025
|
0.00003
|
NM_004281.4(BAG3):c.485C>T (p.Pro162Leu)
|
rs373446989
|
0.00003
|
NM_004281.4(BAG3):c.509G>A (p.Arg170Gln)
|
rs140904592
|
0.00003
|
NM_004333.6(BRAF):c.1314+17T>C
|
rs1057524397
|
0.00003
|
NM_004333.6(BRAF):c.2128-10_2128-9insC
|
rs758588300
|
0.00003
|
NM_004333.6(BRAF):c.2136C>T (p.Ala712=)
|
rs377165711
|
0.00003
|
NM_004333.6(BRAF):c.2140A>G (p.Ile714Val)
|
rs555976452
|
0.00003
|
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr)
|
rs141163578
|
0.00003
|
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala)
|
rs755492444
|
0.00003
|
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn)
|
rs764951792
|
0.00003
|
NM_004415.4(DSP):c.2345A>G (p.Asp782Gly)
|
rs557966264
|
0.00003
|
NM_004415.4(DSP):c.2566T>C (p.Phe856Leu)
|
rs779253041
|
0.00003
|
NM_004415.4(DSP):c.3153C>A (p.Asn1051Lys)
|
rs563387839
|
0.00003
|
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln)
|
rs147909031
|
0.00003
|
NM_004415.4(DSP):c.4081A>C (p.Ser1361Arg)
|
rs747326519
|
0.00003
|
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys)
|
rs141805096
|
0.00003
|
NM_004415.4(DSP):c.6187C>G (p.Arg2063Gly)
|
rs374090050
|
0.00003
|
NM_004415.4(DSP):c.7039A>G (p.Ile2347Val)
|
rs768837509
|
0.00003
|
NM_004415.4(DSP):c.7075A>G (p.Ile2359Val)
|
rs774087560
|
0.00003
|
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp)
|
rs771553674
|
0.00003
|
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly)
|
rs760215987
|
0.00003
|
NM_004415.4(DSP):c.997A>G (p.Ser333Gly)
|
rs773685575
|
0.00003
|
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro)
|
rs377686388
|
0.00003
|
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser)
|
rs751821289
|
0.00003
|
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer)
|
rs767795266
|
0.00003
|
NM_004999.4(MYO6):c.1607C>T (p.Pro536Leu)
|
rs980820643
|
0.00003
|
NM_004999.4(MYO6):c.2039T>C (p.Phe680Ser)
|
rs372399868
|
0.00003
|
NM_005138.3(SCO2):c.244A>G (p.Lys82Glu)
|
rs765425160
|
0.00003
|
NM_005138.3(SCO2):c.616C>T (p.Arg206Cys)
|
rs748770403
|
0.00003
|
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp)
|
rs151229168
|
0.00003
|
NM_005633.4(SOS1):c.1672A>G (p.Met558Val)
|
rs371295853
|
0.00003
|
NM_006073.4(TRDN):c.1601T>G (p.Ile534Arg)
|
rs926868398
|
0.00003
|
NM_006073.4(TRDN):c.1783G>A (p.Asp595Asn)
|
rs771170294
|
0.00003
|
NM_006073.4(TRDN):c.196G>T (p.Val66Phe)
|
rs372169818
|
0.00003
|
NM_006073.4(TRDN):c.22+29A>G
|
rs774068079
|
0.00003
|
NM_006073.4(TRDN):c.25A>G (p.Asn9Asp)
|
rs768303943
|
0.00003
|
NM_006073.4(TRDN):c.32C>T (p.Ser11Phe)
|
rs760549842
|
0.00003
|
NM_007078.3(LDB3):c.1962G>A (p.Glu654=)
|
rs201063130
|
0.00003
|
NM_007078.3(LDB3):c.724G>A (p.Ala242Thr)
|
rs759790522
|
0.00003
|
NM_014000.3(VCL):c.1039C>T (p.Pro347Ser)
|
rs566961713
|
0.00003
|
NM_014000.3(VCL):c.1040C>T (p.Pro347Leu)
|
rs148619523
|
0.00003
|
NM_014000.3(VCL):c.1940C>T (p.Ala647Val)
|
rs534449109
|
0.00003
|
NM_014000.3(VCL):c.2443A>G (p.Lys815Glu)
|
rs960017518
|
0.00003
|
NM_014908.4(DOLK):c.1130G>A (p.Arg377His)
|
rs374317240
|
0.00003
|
NM_014908.4(DOLK):c.1262T>C (p.Leu421Pro)
|
rs145125254
|
0.00003
|
NM_016203.4(PRKAG2):c.-397G>C
|
rs886062106
|
0.00003
|
NM_016203.4(PRKAG2):c.297C>T (p.Pro99=)
|
rs767950372
|
0.00003
|
NM_016599.5(MYOZ2):c.19A>G (p.Met7Val)
|
rs746027670
|
0.00003
|
NM_016599.5(MYOZ2):c.751G>A (p.Glu251Lys)
|
rs752275226
|
0.00003
|
NM_020297.4(ABCC9):c.1012-7G>A
|
rs727502874
|
0.00003
|
NM_020297.4(ABCC9):c.1329G>A (p.Met443Ile)
|
rs151197166
|
0.00003
|
NM_020297.4(ABCC9):c.2312C>T (p.Thr771Ile)
|
rs180739851
|
0.00003
|
NM_020297.4(ABCC9):c.2857G>A (p.Glu953Lys)
|
rs143685061
|
0.00003
|
NM_020297.4(ABCC9):c.3594G>A (p.Met1198Ile)
|
rs199900459
|
0.00003
|
NM_020433.5(JPH2):c.1078A>C (p.Asn360His)
|
rs747676827
|
0.00003
|
NM_020433.5(JPH2):c.1577C>T (p.Pro526Leu)
|
rs756327822
|
0.00003
|
NM_020433.5(JPH2):c.1858G>A (p.Ala620Thr)
|
rs769284597
|
0.00003
|
NM_020433.5(JPH2):c.1867G>C (p.Glu623Gln)
|
rs750828996
|
0.00003
|
NM_020433.5(JPH2):c.77A>G (p.His26Arg)
|
rs141664528
|
0.00003
|
NM_022114.4(PRDM16):c.2458C>T (p.Arg820Trp)
|
rs748390268
|
0.00003
|
NM_022114.4(PRDM16):c.264G>T (p.Glu88Asp)
|
rs945163627
|
0.00003
|
NM_022114.4(PRDM16):c.3357G>C (p.Glu1119Asp)
|
rs756442796
|
0.00003
|
NM_022114.4(PRDM16):c.340G>A (p.Val114Met)
|
rs749076034
|
0.00003
|
NM_022114.4(PRDM16):c.872C>T (p.Pro291Leu)
|
rs397514744
|
0.00003
|
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter)
|
rs773224617
|
0.00003
|
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys)
|
rs140347235
|
0.00003
|
NM_024334.3(TMEM43):c.644A>C (p.His215Pro)
|
rs730880225
|
0.00003
|
NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp)
|
rs139842014
|
0.00003
|
NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln)
|
rs757651177
|
0.00003
|
NM_024422.6(DSC2):c.*166C>G
|
rs886053692
|
0.00003
|
NM_024422.6(DSC2):c.1019C>A (p.Thr340Asn)
|
rs757065157
|
0.00003
|
NM_024422.6(DSC2):c.1048G>T (p.Asp350Tyr)
|
rs766413086
|
0.00003
|
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn)
|
rs140856220
|
0.00003
|
NM_024422.6(DSC2):c.395G>A (p.Arg132His)
|
rs375410133
|
0.00003
|
NM_024422.6(DSC2):c.619G>C (p.Glu207Gln)
|
rs200634448
|
0.00003
|
NM_024422.6(DSC2):c.630+19G>A
|
rs750910749
|
0.00003
|
NM_030662.4(MAP2K2):c.217G>A (p.Glu73Lys)
|
rs187018595
|
0.00003
|
NM_032578.4(MYPN):c.194C>T (p.Ala65Val)
|
rs147553723
|
0.00003
|
NM_032578.4(MYPN):c.2644G>A (p.Ala882Thr)
|
rs199476411
|
0.00003
|
NM_032578.4(MYPN):c.3006C>T (p.Cys1002=)
|
rs1321971649
|
0.00003
|
NM_032578.4(MYPN):c.3441C>T (p.Ile1147=)
|
rs759420426
|
0.00003
|
NM_032578.4(MYPN):c.890C>T (p.Pro297Leu)
|
rs138187845
|
0.00003
|
NM_033337.3(CAV3):c.*592G>A
|
rs187370461
|
0.00003
|
NM_033337.3(CAV3):c.433G>A (p.Val145Met)
|
rs142475018
|
0.00003
|
NM_133379.5(TTN):c.10649G>A (p.Arg3550Gln)
|
rs189154521
|
0.00003
|
NM_133379.5(TTN):c.14113C>T (p.Arg4705Ter)
|
rs755956493
|
0.00003
|
NM_133379.5(TTN):c.14790C>G (p.Val4930=)
|
rs370038956
|
0.00003
|
NM_133379.5(TTN):c.14911A>G (p.Ile4971Val)
|
rs727504687
|
0.00003
|
NM_133379.5(TTN):c.15488G>A (p.Arg5163His)
|
rs150492317
|
0.00003
|
NM_133379.5(TTN):c.15652C>T (p.Arg5218Ter)
|
rs1450038140
|
0.00003
|
NM_133379.5(TTN):c.16003G>A (p.Glu5335Lys)
|
rs1485174648
|
0.00003
|
NM_133379.5(TTN):c.16321C>T (p.Arg5441Ter)
|
rs201273719
|
0.00003
|
NM_144573.4(NEXN):c.1053+1G>A
|
rs397517843
|
0.00003
|
NM_144573.4(NEXN):c.379C>T (p.Arg127Cys)
|
rs771113424
|
0.00003
|
NM_144573.4(NEXN):c.817C>T (p.Arg273Cys)
|
rs757571525
|
0.00003
|
NM_144573.4(NEXN):c.857G>A (p.Arg286Gln)
|
rs910594117
|
0.00003
|
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn)
|
rs370656306
|
0.00003
|
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln)
|
rs58105277
|
0.00003
|
NM_170707.4(LMNA):c.1028G>A (p.Arg343Gln)
|
rs61177390
|
0.00003
|
NM_170707.4(LMNA):c.1256G>A (p.Arg419His)
|
rs777648901
|
0.00003
|
NM_170707.4(LMNA):c.1380+18G>A
|
rs777846700
|
0.00003
|
NM_170707.4(LMNA):c.1381-13A>G
|
rs750192865
|
0.00003
|
NM_170707.4(LMNA):c.1517A>C (p.His506Pro)
|
rs878855233
|
0.00003
|
NM_170707.4(LMNA):c.1756G>A (p.Val586Met)
|
rs758048062
|
0.00003
|
NM_182961.4(SYNE1):c.244C>T (p.Arg82Trp)
|
rs772761179
|
0.00003
|
NM_000018.4(ACADVL):c.-72_-71insGAGGACGTGGGCGTG
|
rs1555527381
|
0.00002
|
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)
|
rs2309689
|
0.00002
|
NM_000018.4(ACADVL):c.1679-6G>A
|
rs113994171
|
0.00002
|
NM_000018.4(ACADVL):c.340G>A (p.Glu114Lys)
|
rs557260142
|
0.00002
|
NM_000018.4(ACADVL):c.858G>A (p.Arg286=)
|
rs531514327
|
0.00002
|
NM_000117.3(EMD):c.241G>A (p.Asp81Asn)
|
rs141138209
|
0.00002
|
NM_000152.5(GAA):c.1147A>G (p.Ile383Val)
|
rs794727837
|
0.00002
|
NM_000152.5(GAA):c.1307G>A (p.Arg436Gln)
|
rs748788550
|
0.00002
|
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys)
|
rs991082382
|
0.00002
|
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)
|
rs28937909
|
0.00002
|
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser)
|
rs774307734
|
0.00002
|
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg)
|
rs148412962
|
0.00002
|
NM_000152.5(GAA):c.2458G>T (p.Ala820Ser)
|
rs745378120
|
0.00002
|
NM_000152.5(GAA):c.2597A>T (p.Glu866Val)
|
rs951742543
|
0.00002
|
NM_000152.5(GAA):c.317G>A (p.Arg106His)
|
rs772534106
|
0.00002
|
NM_000152.5(GAA):c.446C>T (p.Thr149Met)
|
rs750628023
|
0.00002
|
NM_000152.5(GAA):c.460C>T (p.Arg154Cys)
|
rs539841659
|
0.00002
|
NM_000152.5(GAA):c.614C>T (p.Pro205Leu)
|
rs775065551
|
0.00002
|
NM_000152.5(GAA):c.858G>A (p.Thr286=)
|
rs201056962
|
0.00002
|
NM_000157.4(GBA1):c.1346C>T (p.Thr449Met)
|
rs757930613
|
0.00002
|
NM_000157.4(GBA1):c.247C>T (p.Arg83Cys)
|
rs1141812
|
0.00002
|
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter)
|
rs137852771
|
0.00002
|
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val)
|
rs545660610
|
0.00002
|
NM_000203.5(IDUA):c.112C>T (p.Arg38Cys)
|
rs950667822
|
0.00002
|
NM_000218.3(KCNQ1):c.1128+5G>A
|
rs76735093
|
0.00002
|
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)
|
rs17221854
|
0.00002
|
NM_000218.3(KCNQ1):c.1795-10G>A
|
rs780067234
|
0.00002
|
NM_000218.3(KCNQ1):c.345G>A (p.Glu115=)
|
rs758960211
|
0.00002
|
NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu)
|
rs200108320
|
0.00002
|
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe)
|
rs762412447
|
0.00002
|
NM_000256.3(MYBPC3):c.1123G>A (p.Val375Met)
|
rs727503208
|
0.00002
|
NM_000256.3(MYBPC3):c.133G>A (p.Gly45Arg)
|
rs775837337
|
0.00002
|
NM_000256.3(MYBPC3):c.1454A>G (p.Lys485Arg)
|
rs1185871136
|
0.00002
|
NM_000256.3(MYBPC3):c.1563C>T (p.Asp521=)
|
rs367915627
|
0.00002
|
NM_000256.3(MYBPC3):c.1830C>T (p.Asp610=)
|
rs768049705
|
0.00002
|
NM_000256.3(MYBPC3):c.1960C>T (p.Arg654Cys)
|
rs397515939
|
0.00002
|
NM_000256.3(MYBPC3):c.2149-80G>A
|
rs1041197781
|
0.00002
|
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)
|
rs36211723
|
0.00002
|
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)
|
rs397515963
|
0.00002
|
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)
|
rs187830361
|
0.00002
|
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)
|
rs2856655
|
0.00002
|
NM_000256.3(MYBPC3):c.26-2A>G
|
rs376395543
|
0.00002
|
NM_000256.3(MYBPC3):c.2654C>T (p.Thr885Met)
|
rs397515981
|
0.00002
|
NM_000256.3(MYBPC3):c.2682G>T (p.Glu894Asp)
|
rs369289966
|
0.00002
|
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys)
|
rs397515999
|
0.00002
|
NM_000256.3(MYBPC3):c.3143G>A (p.Arg1048His)
|
rs769018051
|
0.00002
|
NM_000256.3(MYBPC3):c.3170C>T (p.Thr1057Met)
|
rs754115924
|
0.00002
|
NM_000256.3(MYBPC3):c.3190+5G>A
|
rs587782958
|
0.00002
|
NM_000256.3(MYBPC3):c.46C>T (p.Pro16Ser)
|
rs730880573
|
0.00002
|
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His)
|
rs727504396
|
0.00002
|
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His)
|
rs376461745
|
0.00002
|
NM_000256.3(MYBPC3):c.927-9G>A
|
rs397516083
|
0.00002
|
NM_000257.4(MYH7):c.1046T>C (p.Met349Thr)
|
rs121913640
|
0.00002
|
NM_000257.4(MYH7):c.1334C>T (p.Ala445Val)
|
rs752349938
|
0.00002
|
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)
|
rs727504238
|
0.00002
|
NM_000257.4(MYH7):c.1913C>T (p.Ala638Val)
|
rs369935820
|
0.00002
|
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)
|
rs121913630
|
0.00002
|
NM_000257.4(MYH7):c.4078G>A (p.Val1360Ile)
|
rs373231077
|
0.00002
|
NM_000257.4(MYH7):c.4641C>T (p.Ala1547=)
|
rs376854724
|
0.00002
|
NM_000257.4(MYH7):c.4831G>T (p.Ala1611Ser)
|
rs730880913
|
0.00002
|
NM_000257.4(MYH7):c.4916C>T (p.Ala1639Val)
|
rs1195157116
|
0.00002
|
NM_000257.4(MYH7):c.4953+14G>A
|
rs758571263
|
0.00002
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His)
|
rs397516246
|
0.00002
|
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser)
|
rs369940645
|
0.00002
|
NM_000257.4(MYH7):c.5470A>G (p.Asn1824Asp)
|
rs769112519
|
0.00002
|
NM_000258.3(MYL3):c.461G>A (p.Arg154His)
|
rs104893749
|
0.00002
|
NM_000258.3(MYL3):c.530A>G (p.Glu177Gly)
|
rs193922391
|
0.00002
|
NM_000258.3(MYL3):c.61C>T (p.Pro21Ser)
|
rs779557153
|
0.00002
|
NM_000335.5(SCN5A):c.1237G>A (p.Ala413Thr)
|
rs199473110
|
0.00002
|
NM_000335.5(SCN5A):c.1410C>G (p.Asn470Lys)
|
rs199473115
|
0.00002
|
NM_000335.5(SCN5A):c.1677A>G (p.Thr559=)
|
rs376389170
|
0.00002
|
NM_000335.5(SCN5A):c.1992C>T (p.Ser664=)
|
rs368167264
|
0.00002
|
NM_000335.5(SCN5A):c.2182G>A (p.Val728Ile)
|
rs958480279
|
0.00002
|
NM_000335.5(SCN5A):c.2365G>A (p.Val789Ile)
|
rs199473159
|
0.00002
|
NM_000335.5(SCN5A):c.280A>G (p.Ile94Val)
|
rs202114798
|
0.00002
|
NM_000335.5(SCN5A):c.3098A>G (p.Gln1033Arg)
|
rs199473641
|
0.00002
|
NM_000335.5(SCN5A):c.3581G>A (p.Arg1194His)
|
rs199473596
|
0.00002
|
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg)
|
rs780405533
|
0.00002
|
NM_000335.5(SCN5A):c.5735G>A (p.Arg1912His)
|
rs199473327
|
0.00002
|
NM_000335.5(SCN5A):c.5783G>A (p.Arg1928His)
|
rs727504822
|
0.00002
|
NM_000335.5(SCN5A):c.5842G>A (p.Ala1948Thr)
|
rs199473330
|
0.00002
|
NM_000335.5(SCN5A):c.6031C>T (p.Arg2011Cys)
|
rs199473640
|
0.00002
|
NM_000335.5(SCN5A):c.874G>A (p.Gly292Ser)
|
rs199473085
|
0.00002
|
NM_000337.6(SGCD):c.*5749C>T
|
rs886060310
|
0.00002
|
NM_000337.6(SGCD):c.1A>G (p.Met1Val)
|
rs756367674
|
0.00002
|
NM_000337.6(SGCD):c.3+2T>A
|
rs753979573
|
0.00002
|
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln)
|
rs752548592
|
0.00002
|
NM_000337.6(SGCD):c.91C>T (p.Arg31Trp)
|
rs202223676
|
0.00002
|
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)
|
rs397516349
|
0.00002
|
NM_000363.5(TNNI3):c.439G>C (p.Val147Leu)
|
rs777782551
|
0.00002
|
NM_000363.5(TNNI3):c.92C>T (p.Thr31Met)
|
rs201928445
|
0.00002
|
NM_000371.4(TTR):c.209G>A (p.Ser70Asn)
|
rs121918080
|
0.00002
|
NM_000371.4(TTR):c.78T>C (p.Gly26=)
|
rs779457244
|
0.00002
|
NM_000432.4(MYL2):c.203A>G (p.Glu68Gly)
|
rs752456288
|
0.00002
|
NM_000447.3(PSEN2):c.902C>T (p.Thr301Met)
|
rs144277432
|
0.00002
|
NM_001005242.3(PKP2):c.1379-2071G>A
|
rs776244945
|
0.00002
|
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)
|
rs193922672
|
0.00002
|
NM_001005242.3(PKP2):c.2140C>T (p.Arg714Trp)
|
rs537046857
|
0.00002
|
NM_001005242.3(PKP2):c.2316C>T (p.Thr772=)
|
rs369837002
|
0.00002
|
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr)
|
rs727503373
|
0.00002
|
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu)
|
rs746530389
|
0.00002
|
NM_001035.3(RYR2):c.10360C>T (p.Arg3454Cys)
|
rs773252606
|
0.00002
|
NM_001035.3(RYR2):c.1166G>A (p.Arg389His)
|
rs200685968
|
0.00002
|
NM_001035.3(RYR2):c.11982G>A (p.Thr3994=)
|
rs368634803
|
0.00002
|
NM_001035.3(RYR2):c.12091A>G (p.Thr4031Ala)
|
rs755148895
|
0.00002
|
NM_001035.3(RYR2):c.1217C>T (p.Ser406Leu)
|
rs759830423
|
0.00002
|
NM_001035.3(RYR2):c.12865A>G (p.Ser4289Gly)
|
rs1386632671
|
0.00002
|
NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met)
|
rs200803276
|
0.00002
|
NM_001035.3(RYR2):c.2459C>G (p.Ala820Gly)
|
rs748492817
|
0.00002
|
NM_001035.3(RYR2):c.3163C>T (p.Arg1055Cys)
|
rs754181384
|
0.00002
|
NM_001035.3(RYR2):c.364C>T (p.Arg122Cys)
|
rs397516527
|
0.00002
|
NM_001035.3(RYR2):c.3877C>G (p.Gln1293Glu)
|
rs962100875
|
0.00002
|
NM_001035.3(RYR2):c.4161-5T>C
|
rs1416816823
|
0.00002
|
NM_001035.3(RYR2):c.4733C>G (p.Pro1578Arg)
|
rs765351308
|
0.00002
|
NM_001035.3(RYR2):c.5509G>A (p.Glu1837Lys)
|
rs749184443
|
0.00002
|
NM_001035.3(RYR2):c.5671G>A (p.Glu1891Lys)
|
rs1224597817
|
0.00002
|
NM_001035.3(RYR2):c.5917A>G (p.Ile1973Val)
|
rs780681855
|
0.00002
|
NM_001035.3(RYR2):c.6284T>C (p.Ile2095Thr)
|
rs142498105
|
0.00002
|
NM_001035.3(RYR2):c.782A>G (p.His261Arg)
|
rs577416427
|
0.00002
|
NM_001035.3(RYR2):c.8742G>A (p.Thr2914=)
|
rs751520306
|
0.00002
|
NM_001035.3(RYR2):c.8749A>G (p.Ile2917Val)
|
rs981753891
|
0.00002
|
NM_001035.3(RYR2):c.9442G>A (p.Val3148Met)
|
rs876657994
|
0.00002
|
NM_001035.3(RYR2):c.9561G>C (p.Lys3187Asn)
|
rs1060500168
|
0.00002
|
NM_001079802.2(FKTN):c.188T>C (p.Met63Thr)
|
rs772840681
|
0.00002
|
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)
|
rs267606814
|
0.00002
|
NM_001103.4(ACTN2):c.1046A>T (p.Gln349Leu)
|
rs376335356
|
0.00002
|
NM_001103.4(ACTN2):c.1117G>A (p.Gly373Ser)
|
rs769980647
|
0.00002
|
NM_001103.4(ACTN2):c.1172A>G (p.Asn391Ser)
|
rs547711260
|
0.00002
|
NM_001103.4(ACTN2):c.1918C>T (p.Arg640Cys)
|
rs769453411
|
0.00002
|
NM_001103.4(ACTN2):c.2154+5G>A
|
rs767655336
|
0.00002
|
NM_001103.4(ACTN2):c.419G>A (p.Arg140His)
|
rs370689695
|
0.00002
|
NM_001103.4(ACTN2):c.536+6C>G
|
rs771398006
|
0.00002
|
NM_001103.4(ACTN2):c.59T>C (p.Met20Thr)
|
rs776456711
|
0.00002
|
NM_001103.4(ACTN2):c.703G>A (p.Val235Met)
|
rs754929573
|
0.00002
|
NM_001103.4(ACTN2):c.767T>C (p.Phe256Ser)
|
rs1337069615
|
0.00002
|
NM_001105206.3(LAMA4):c.1808A>T (p.Glu603Val)
|
rs781829812
|
0.00002
|
NM_001105206.3(LAMA4):c.1813A>G (p.Ser605Gly)
|
rs112884471
|
0.00002
|
NM_001105206.3(LAMA4):c.191C>T (p.Ala64Val)
|
rs376091454
|
0.00002
|
NM_001105206.3(LAMA4):c.2054C>T (p.Ser685Phe)
|
rs369776441
|
0.00002
|
NM_001105206.3(LAMA4):c.2225A>G (p.Asn742Ser)
|
rs374279330
|
0.00002
|
NM_001105206.3(LAMA4):c.2906A>G (p.Asp969Gly)
|
rs1554332964
|
0.00002
|
NM_001105206.3(LAMA4):c.3238C>T (p.Arg1080Ter)
|
rs372615994
|
0.00002
|
NM_001105206.3(LAMA4):c.3277A>G (p.Asn1093Asp)
|
rs782550866
|
0.00002
|
NM_001105206.3(LAMA4):c.4183G>A (p.Val1395Ile)
|
rs782627670
|
0.00002
|
NM_001105206.3(LAMA4):c.475G>A (p.Glu159Lys)
|
rs540626879
|
0.00002
|
NM_001105206.3(LAMA4):c.4972G>A (p.Val1658Met)
|
rs149555058
|
0.00002
|
NM_001105206.3(LAMA4):c.5029C>T (p.Arg1677Cys)
|
rs587753056
|
0.00002
|
NM_001122630.2(CDKN1C):c.17C>T (p.Ala6Val)
|
rs1477196859
|
0.00002
|
NM_001122630.2(CDKN1C):c.193C>T (p.Arg65Cys)
|
rs750526402
|
0.00002
|
NM_001122630.2(CDKN1C):c.51C>T (p.Ser17=)
|
rs1216953646
|
0.00002
|
NM_001122630.2(CDKN1C):c.542C>G (p.Pro181Arg)
|
rs1377428359
|
0.00002
|
NM_001122630.2(CDKN1C):c.553G>C (p.Ala185Pro)
|
rs1281835164
|
0.00002
|
NM_001122630.2(CDKN1C):c.611C>A (p.Ala204Asp)
|
rs1060500176
|
0.00002
|
NM_001134363.3(RBM20):c.1201G>A (p.Asp401Asn)
|
rs950210735
|
0.00002
|
NM_001134363.3(RBM20):c.2062C>T (p.Arg688Ter)
|
rs794729150
|
0.00002
|
NM_001134363.3(RBM20):c.2107A>G (p.Arg703Gly)
|
rs899167549
|
0.00002
|
NM_001134363.3(RBM20):c.2709T>A (p.Thr903=)
|
rs1481403925
|
0.00002
|
NM_001134363.3(RBM20):c.3550G>A (p.Ala1184Thr)
|
rs1300657058
|
0.00002
|
NM_001134363.3(RBM20):c.419C>T (p.Pro140Leu)
|
rs977645949
|
0.00002
|
NM_001134363.3(RBM20):c.487C>T (p.Arg163Trp)
|
rs1458326422
|
0.00002
|
NM_001159699.2(FHL1):c.59A>G (p.Lys20Arg)
|
rs1230410861
|
0.00002
|
NM_001159699.2(FHL1):c.644G>A (p.Arg215His)
|
rs886043053
|
0.00002
|
NM_001232.4(CASQ2):c.633G>T (p.Met211Ile)
|
rs377762175
|
0.00002
|
NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser)
|
rs548536938
|
0.00002
|
NM_001267550.2(TTN):c.100117G>A (p.Gly33373Ser)
|
rs55880786
|
0.00002
|
NM_001267550.2(TTN):c.101027G>A (p.Gly33676Glu)
|
rs368894429
|
0.00002
|
NM_001267550.2(TTN):c.102030T>G (p.Ser34010Arg)
|
rs1296387134
|
0.00002
|
NM_001267550.2(TTN):c.102238G>C (p.Val34080Leu)
|
rs1467698015
|
0.00002
|
NM_001267550.2(TTN):c.102284A>C (p.His34095Pro)
|
rs1437743604
|
0.00002
|
NM_001267550.2(TTN):c.103939T>C (p.Tyr34647His)
|
rs561869617
|
0.00002
|
NM_001267550.2(TTN):c.104245C>T (p.Arg34749Trp)
|
rs962181882
|
0.00002
|
NM_001267550.2(TTN):c.104648G>A (p.Arg34883His)
|
rs368063908
|
0.00002
|
NM_001267550.2(TTN):c.104986G>T (p.Val34996Phe)
|
rs772718460
|
0.00002
|
NM_001267550.2(TTN):c.105625A>C (p.Lys35209Gln)
|
rs56365812
|
0.00002
|
NM_001267550.2(TTN):c.106828A>G (p.Lys35610Glu)
|
rs753984036
|
0.00002
|
NM_001267550.2(TTN):c.107339G>A (p.Arg35780His)
|
rs770904787
|
0.00002
|
NM_001267550.2(TTN):c.107377+1G>A
|
rs112188483
|
0.00002
|
NM_001267550.2(TTN):c.107869A>T (p.Ile35957Phe)
|
rs950902715
|
0.00002
|
NM_001267550.2(TTN):c.11567A>G (p.Asn3856Ser)
|
rs765523683
|
0.00002
|
NM_001267550.2(TTN):c.12208G>A (p.Glu4070Lys)
|
rs397517830
|
0.00002
|
NM_001267550.2(TTN):c.1332C>T (p.Ser444=)
|
rs759520186
|
0.00002
|
NM_001267550.2(TTN):c.14306A>T (p.Glu4769Val)
|
rs763092484
|
0.00002
|
NM_001267550.2(TTN):c.14624C>G (p.Ala4875Gly)
|
rs369989679
|
0.00002
|
NM_001267550.2(TTN):c.15940A>G (p.Asn5314Asp)
|
rs371044267
|
0.00002
|
NM_001267550.2(TTN):c.16370G>T (p.Gly5457Val)
|
rs879144126
|
0.00002
|
NM_001267550.2(TTN):c.1694C>T (p.Ser565Phe)
|
rs762175397
|
0.00002
|
NM_001267550.2(TTN):c.18374T>C (p.Phe6125Ser)
|
rs375003845
|
0.00002
|
NM_001267550.2(TTN):c.2160T>G (p.Pro720=)
|
rs776860277
|
0.00002
|
NM_001267550.2(TTN):c.2306T>C (p.Ile769Thr)
|
rs979110143
|
0.00002
|
NM_001267550.2(TTN):c.24928T>A (p.Tyr8310Asn)
|
rs397517511
|
0.00002
|
NM_001267550.2(TTN):c.26200G>A (p.Ala8734Thr)
|
rs727503646
|
0.00002
|
NM_001267550.2(TTN):c.26744C>G (p.Ala8915Gly)
|
rs536974988
|
0.00002
|
NM_001267550.2(TTN):c.26985C>A (p.Asp8995Glu)
|
rs781351100
|
0.00002
|
NM_001267550.2(TTN):c.27724G>T (p.Asp9242Tyr)
|
rs746470885
|
0.00002
|
NM_001267550.2(TTN):c.28099C>T (p.Leu9367Phe)
|
rs748483786
|
0.00002
|
NM_001267550.2(TTN):c.28594A>G (p.Ile9532Val)
|
rs770782767
|
0.00002
|
NM_001267550.2(TTN):c.28744G>A (p.Val9582Ile)
|
rs537805395
|
0.00002
|
NM_001267550.2(TTN):c.29429T>C (p.Ile9810Thr)
|
rs781737736
|
0.00002
|
NM_001267550.2(TTN):c.30248G>A (p.Arg10083His)
|
rs759347532
|
0.00002
|
NM_001267550.2(TTN):c.31181T>C (p.Ile10394Thr)
|
rs1219872673
|
0.00002
|
NM_001267550.2(TTN):c.343G>A (p.Val115Met)
|
rs564777385
|
0.00002
|
NM_001267550.2(TTN):c.34721T>C (p.Ile11574Thr)
|
rs368157806
|
0.00002
|
NM_001267550.2(TTN):c.34925C>T (p.Ala11642Val)
|
rs375391365
|
0.00002
|
NM_001267550.2(TTN):c.35330T>C (p.Ile11777Thr)
|
rs1393138345
|
0.00002
|
NM_001267550.2(TTN):c.35351G>A (p.Arg11784His)
|
rs756874306
|
0.00002
|
NM_001267550.2(TTN):c.36142G>C (p.Val12048Leu)
|
rs768872042
|
0.00002
|
NM_001267550.2(TTN):c.36281-13A>T
|
rs751095834
|
0.00002
|
NM_001267550.2(TTN):c.36448G>T (p.Val12150Leu)
|
rs371317962
|
0.00002
|
NM_001267550.2(TTN):c.36532+13G>A
|
rs758624046
|
0.00002
|
NM_001267550.2(TTN):c.39085C>A (p.Pro13029Thr)
|
rs397517553
|
0.00002
|
NM_001267550.2(TTN):c.39673C>T (p.Pro13225Ser)
|
rs202240398
|
0.00002
|
NM_001267550.2(TTN):c.4072G>T (p.Asp1358Tyr)
|
rs373988162
|
0.00002
|
NM_001267550.2(TTN):c.43656G>A (p.Ser14552=)
|
rs376851369
|
0.00002
|
NM_001267550.2(TTN):c.45725G>A (p.Arg15242Lys)
|
rs140795503
|
0.00002
|
NM_001267550.2(TTN):c.46373G>A (p.Cys15458Tyr)
|
rs377564388
|
0.00002
|
NM_001267550.2(TTN):c.46631G>A (p.Arg15544His)
|
rs772760901
|
0.00002
|
NM_001267550.2(TTN):c.48346G>A (p.Val16116Ile)
|
rs367769671
|
0.00002
|
NM_001267550.2(TTN):c.50151G>C (p.Glu16717Asp)
|
rs369623681
|
0.00002
|
NM_001267550.2(TTN):c.50399A>C (p.Lys16800Thr)
|
rs959185764
|
0.00002
|
NM_001267550.2(TTN):c.50531T>C (p.Leu16844Pro)
|
rs764983586
|
0.00002
|
NM_001267550.2(TTN):c.52788T>A (p.Asn17596Lys)
|
rs375966756
|
0.00002
|
NM_001267550.2(TTN):c.52880G>A (p.Arg17627His)
|
rs536494011
|
0.00002
|
NM_001267550.2(TTN):c.54142T>C (p.Ser18048Pro)
|
rs878999356
|
0.00002
|
NM_001267550.2(TTN):c.5583C>T (p.Arg1861=)
|
rs368972275
|
0.00002
|
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter)
|
rs745376275
|
0.00002
|
NM_001267550.2(TTN):c.58992T>A (p.Asp19664Glu)
|
rs769129424
|
0.00002
|
NM_001267550.2(TTN):c.60003G>A (p.Pro20001=)
|
rs753118050
|
0.00002
|
NM_001267550.2(TTN):c.60623T>C (p.Ile20208Thr)
|
rs752768925
|
0.00002
|
NM_001267550.2(TTN):c.60815C>T (p.Pro20272Leu)
|
rs760277470
|
0.00002
|
NM_001267550.2(TTN):c.62314G>A (p.Asp20772Asn)
|
rs878925775
|
0.00002
|
NM_001267550.2(TTN):c.6304G>T (p.Val2102Leu)
|
rs767322897
|
0.00002
|
NM_001267550.2(TTN):c.63793+9del
|
rs771033923
|
0.00002
|
NM_001267550.2(TTN):c.6414A>G (p.Ile2138Met)
|
rs368391123
|
0.00002
|
NM_001267550.2(TTN):c.67318G>A (p.Gly22440Ser)
|
rs727503576
|
0.00002
|
NM_001267550.2(TTN):c.67487A>G (p.Lys22496Arg)
|
rs397517669
|
0.00002
|
NM_001267550.2(TTN):c.67496G>A (p.Arg22499Gln)
|
rs767993624
|
0.00002
|
NM_001267550.2(TTN):c.67685C>A (p.Ala22562Asp)
|
rs776797528
|
0.00002
|
NM_001267550.2(TTN):c.67792A>C (p.Ser22598Arg)
|
rs775579156
|
0.00002
|
NM_001267550.2(TTN):c.6895T>C (p.Trp2299Arg)
|
rs145585333
|
0.00002
|
NM_001267550.2(TTN):c.6923C>A (p.Ser2308Tyr)
|
rs577966527
|
0.00002
|
NM_001267550.2(TTN):c.73426G>A (p.Glu24476Lys)
|
rs760487688
|
0.00002
|
NM_001267550.2(TTN):c.77902G>A (p.Glu25968Lys)
|
rs756933390
|
0.00002
|
NM_001267550.2(TTN):c.78662C>T (p.Pro26221Leu)
|
rs912454417
|
0.00002
|
NM_001267550.2(TTN):c.79487T>C (p.Ile26496Thr)
|
rs749600987
|
0.00002
|
NM_001267550.2(TTN):c.80717G>A (p.Arg26906Gln)
|
rs536183519
|
0.00002
|
NM_001267550.2(TTN):c.80774G>A (p.Arg26925Lys)
|
rs748215561
|
0.00002
|
NM_001267550.2(TTN):c.80898T>C (p.Ser26966=)
|
rs374042845
|
0.00002
|
NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp)
|
rs749852593
|
0.00002
|
NM_001267550.2(TTN):c.84633T>C (p.Asp28211=)
|
rs1211159517
|
0.00002
|
NM_001267550.2(TTN):c.84998C>T (p.Ala28333Val)
|
rs886042586
|
0.00002
|
NM_001267550.2(TTN):c.85315C>T (p.Arg28439Trp)
|
rs757653038
|
0.00002
|
NM_001267550.2(TTN):c.85477A>G (p.Thr28493Ala)
|
rs369907507
|
0.00002
|
NM_001267550.2(TTN):c.85846C>T (p.Arg28616Trp)
|
rs754025981
|
0.00002
|
NM_001267550.2(TTN):c.86701C>T (p.Arg28901Cys)
|
rs757848764
|
0.00002
|
NM_001267550.2(TTN):c.88406C>T (p.Ala29469Val)
|
rs397517740
|
0.00002
|
NM_001267550.2(TTN):c.88826G>A (p.Arg29609Gln)
|
rs758876816
|
0.00002
|
NM_001267550.2(TTN):c.88946C>T (p.Ser29649Leu)
|
rs764695663
|
0.00002
|
NM_001267550.2(TTN):c.88955T>C (p.Val29652Ala)
|
rs748609330
|
0.00002
|
NM_001267550.2(TTN):c.8902C>T (p.Pro2968Ser)
|
rs773875566
|
0.00002
|
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter)
|
rs1179247052
|
0.00002
|
NM_001267550.2(TTN):c.89965A>G (p.Ser29989Gly)
|
rs1225946550
|
0.00002
|
NM_001267550.2(TTN):c.91304C>T (p.Thr30435Ile)
|
rs1060500591
|
0.00002
|
NM_001267550.2(TTN):c.91306C>T (p.Arg30436Trp)
|
rs773600127
|
0.00002
|
NM_001267550.2(TTN):c.92666G>A (p.Gly30889Asp)
|
rs727505280
|
0.00002
|
NM_001267550.2(TTN):c.93167G>A (p.Arg31056Gln)
|
rs201377736
|
0.00002
|
NM_001267550.2(TTN):c.94711G>A (p.Val31571Met)
|
rs140081451
|
0.00002
|
NM_001267550.2(TTN):c.94828G>A (p.Ala31610Thr)
|
rs141357723
|
0.00002
|
NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu)
|
rs587780983
|
0.00002
|
NM_001267550.2(TTN):c.95873G>A (p.Arg31958Gln)
|
rs763270971
|
0.00002
|
NM_001267550.2(TTN):c.95953G>A (p.Val31985Ile)
|
rs373484878
|
0.00002
|
NM_001267550.2(TTN):c.9656C>A (p.Thr3219Asn)
|
rs1385851793
|
0.00002
|
NM_001267550.2(TTN):c.9769C>A (p.Arg3257Ser)
|
rs374521620
|
0.00002
|
NM_001267550.2(TTN):c.99254G>A (p.Arg33085His)
|
rs777035261
|
0.00002
|
NM_001276345.2(TNNT2):c.110C>G (p.Ala37Gly)
|
rs776406819
|
0.00002
|
NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu)
|
rs144900708
|
0.00002
|
NM_001458.5(FLNC):c.2311G>A (p.Gly771Ser)
|
rs1031265089
|
0.00002
|
NM_001458.5(FLNC):c.3022C>T (p.Arg1008Cys)
|
rs757969015
|
0.00002
|
NM_001458.5(FLNC):c.3407C>T (p.Ala1136Val)
|
rs762793681
|
0.00002
|
NM_001458.5(FLNC):c.4073C>G (p.Pro1358Arg)
|
rs769586047
|
0.00002
|
NM_001458.5(FLNC):c.4699C>T (p.Arg1567Trp)
|
rs369842920
|
0.00002
|
NM_001458.5(FLNC):c.4705G>A (p.Ala1569Thr)
|
rs768737324
|
0.00002
|
NM_001458.5(FLNC):c.5278G>A (p.Gly1760Ser)
|
rs150986092
|
0.00002
|
NM_001458.5(FLNC):c.5580C>G (p.Arg1860=)
|
rs955205184
|
0.00002
|
NM_001458.5(FLNC):c.6419G>A (p.Arg2140Gln)
|
rs368662317
|
0.00002
|
NM_001458.5(FLNC):c.7228C>T (p.Arg2410Cys)
|
rs750686083
|
0.00002
|
NM_001458.5(FLNC):c.7310G>A (p.Arg2437Gln)
|
rs201762568
|
0.00002
|
NM_001927.4(DES):c.1049G>A (p.Arg350Gln)
|
rs57965306
|
0.00002
|
NM_001927.4(DES):c.1288+1G>A
|
rs112224037
|
0.00002
|
NM_001927.4(DES):c.1325C>A (p.Thr442Asn)
|
rs121913005
|
0.00002
|
NM_001927.4(DES):c.167T>A (p.Val56Glu)
|
rs1170549656
|
0.00002
|
NM_001927.4(DES):c.680G>A (p.Arg227His)
|
rs141486420
|
0.00002
|
NM_001927.4(DES):c.728A>G (p.His243Arg)
|
rs1410266369
|
0.00002
|
NM_001943.5(DSG2):c.1820A>G (p.Tyr607Cys)
|
rs766843045
|
0.00002
|
NM_001943.5(DSG2):c.2084C>T (p.Thr695Met)
|
rs200137091
|
0.00002
|
NM_001943.5(DSG2):c.919C>G (p.Leu307Val)
|
rs1052070604
|
0.00002
|
NM_001943.5(DSG2):c.977A>T (p.Asp326Val)
|
rs769699241
|
0.00002
|
NM_002230.4(JUP):c.1354A>T (p.Thr452Ser)
|
rs794729045
|
0.00002
|
NM_002230.4(JUP):c.148G>A (p.Gly50Arg)
|
rs374008304
|
0.00002
|
NM_002230.4(JUP):c.1490T>G (p.Leu497Arg)
|
rs1327324458
|
0.00002
|
NM_002230.4(JUP):c.1714C>T (p.Arg572Trp)
|
rs559297418
|
0.00002
|
NM_002230.4(JUP):c.1865A>T (p.Asp622Val)
|
rs1021325325
|
0.00002
|
NM_002230.4(JUP):c.2087-18C>T
|
rs776307936
|
0.00002
|
NM_002230.4(JUP):c.2153T>C (p.Met718Thr)
|
rs782336064
|
0.00002
|
NM_002230.4(JUP):c.2194G>A (p.Gly732Ser)
|
rs781885294
|
0.00002
|
NM_002230.4(JUP):c.436G>A (p.Glu146Lys)
|
rs146581757
|
0.00002
|
NM_002230.4(JUP):c.447A>G (p.Lys149=)
|
rs199853316
|
0.00002
|
NM_002230.4(JUP):c.521C>T (p.Ala174Val)
|
rs146786437
|
0.00002
|
NM_002230.4(JUP):c.524C>T (p.Ser175Leu)
|
rs782435477
|
0.00002
|
NM_002230.4(JUP):c.533C>T (p.Ala178Val)
|
rs781976753
|
0.00002
|
NM_002230.4(JUP):c.572G>A (p.Arg191His)
|
rs143502391
|
0.00002
|
NM_002230.4(JUP):c.646C>T (p.Arg216Trp)
|
rs1490199319
|
0.00002
|
NM_002230.4(JUP):c.833A>G (p.Asn278Ser)
|
rs541560189
|
0.00002
|
NM_002230.4(JUP):c.964T>C (p.Tyr322His)
|
rs557075259
|
0.00002
|
NM_002471.4(MYH6):c.1042G>A (p.Ala348Thr)
|
rs1002843684
|
0.00002
|
NM_002471.4(MYH6):c.1210C>T (p.Arg404Trp)
|
rs1271657601
|
0.00002
|
NM_002471.4(MYH6):c.1325C>T (p.Thr442Met)
|
rs757040426
|
0.00002
|
NM_002471.4(MYH6):c.1520T>C (p.Ile507Thr)
|
rs188023690
|
0.00002
|
NM_002471.4(MYH6):c.1535T>C (p.Ile512Thr)
|
rs397516756
|
0.00002
|
NM_002471.4(MYH6):c.160C>T (p.Arg54Trp)
|
rs369366244
|
0.00002
|
NM_002471.4(MYH6):c.212T>C (p.Val71Ala)
|
rs769686237
|
0.00002
|
NM_002471.4(MYH6):c.2189T>C (p.Val730Ala)
|
rs763963623
|
0.00002
|
NM_002471.4(MYH6):c.244C>T (p.Pro82Ser)
|
rs754260713
|
0.00002
|
NM_002471.4(MYH6):c.2533G>A (p.Ala845Thr)
|
rs989813600
|
0.00002
|
NM_002471.4(MYH6):c.2605G>A (p.Glu869Lys)
|
rs774144472
|
0.00002
|
NM_002471.4(MYH6):c.3135G>T (p.Lys1045Asn)
|
rs758449996
|
0.00002
|
NM_002471.4(MYH6):c.3477G>A (p.Thr1159=)
|
rs573242724
|
0.00002
|
NM_002471.4(MYH6):c.3481G>A (p.Val1161Met)
|
rs762230455
|
0.00002
|
NM_002471.4(MYH6):c.3575C>T (p.Ala1192Val)
|
rs765797952
|
0.00002
|
NM_002471.4(MYH6):c.3697G>A (p.Val1233Ile)
|
rs144761217
|
0.00002
|
NM_002471.4(MYH6):c.4084G>A (p.Val1362Ile)
|
rs768398107
|
0.00002
|
NM_002471.4(MYH6):c.409G>A (p.Glu137Lys)
|
rs752658033
|
0.00002
|
NM_002471.4(MYH6):c.4151G>A (p.Arg1384Gln)
|
rs139265690
|
0.00002
|
NM_002471.4(MYH6):c.4192C>T (p.Arg1398Trp)
|
rs374022661
|
0.00002
|
NM_002471.4(MYH6):c.4438A>G (p.Ser1480Gly)
|
rs930701630
|
0.00002
|
NM_002471.4(MYH6):c.4624C>A (p.Leu1542Met)
|
rs750721562
|
0.00002
|
NM_002471.4(MYH6):c.4793C>T (p.Ser1598Leu)
|
rs536807961
|
0.00002
|
NM_002471.4(MYH6):c.481G>A (p.Ala161Thr)
|
rs754736798
|
0.00002
|
NM_002471.4(MYH6):c.485A>G (p.Tyr162Cys)
|
rs397516772
|
0.00002
|
NM_002471.4(MYH6):c.4918G>A (p.Glu1640Lys)
|
rs748924413
|
0.00002
|
NM_002471.4(MYH6):c.5135G>T (p.Ser1712Ile)
|
rs201383498
|
0.00002
|
NM_002471.4(MYH6):c.5341C>A (p.Leu1781Met)
|
rs747585087
|
0.00002
|
NM_002471.4(MYH6):c.5660C>T (p.Ala1887Val)
|
rs767096302
|
0.00002
|
NM_002471.4(MYH6):c.5695C>T (p.Arg1899Cys)
|
rs371607892
|
0.00002
|
NM_002471.4(MYH6):c.5696G>A (p.Arg1899His)
|
rs61731171
|
0.00002
|
NM_002471.4(MYH6):c.5794A>T (p.Lys1932Ter)
|
rs763914096
|
0.00002
|
NM_002471.4(MYH6):c.704A>G (p.Lys235Arg)
|
rs544293019
|
0.00002
|
NM_002834.5(PTPN11):c.1041A>G (p.Gln347=)
|
rs766297596
|
0.00002
|
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala)
|
rs201247699
|
0.00002
|
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys)
|
rs587778634
|
0.00002
|
NM_002834.5(PTPN11):c.327T>G (p.Ser109=)
|
rs1039250039
|
0.00002
|
NM_002834.5(PTPN11):c.455G>A (p.Arg152His)
|
rs397507521
|
0.00002
|
NM_002880.4(RAF1):c.1113T>C (p.Asp371=)
|
rs146668293
|
0.00002
|
NM_003239.5(TGFB3):c.908A>C (p.Asp303Ala)
|
rs768423844
|
0.00002
|
NM_003476.5(CSRP3):c.437G>A (p.Arg146His)
|
rs377066670
|
0.00002
|
NM_003673.4(TCAP):c.267G>A (p.Leu89=)
|
rs1419129039
|
0.00002
|
NM_004006.3(DMD):c.10615C>G (p.Leu3539Val)
|
rs367748290
|
0.00002
|
NM_004006.3(DMD):c.1094A>G (p.Gln365Arg)
|
rs1216968523
|
0.00002
|
NM_004006.3(DMD):c.11015-5T>A
|
rs753104670
|
0.00002
|
NM_004006.3(DMD):c.11023A>G (p.Thr3675Ala)
|
rs768016083
|
0.00002
|
NM_004006.3(DMD):c.1463G>A (p.Arg488His)
|
rs794727065
|
0.00002
|
NM_004006.3(DMD):c.1536C>A (p.His512Gln)
|
rs776446238
|
0.00002
|
NM_004006.3(DMD):c.2233C>G (p.Pro745Ala)
|
rs1435295333
|
0.00002
|
NM_004006.3(DMD):c.2726C>T (p.Ala909Val)
|
rs370014420
|
0.00002
|
NM_004006.3(DMD):c.2842A>G (p.Met948Val)
|
rs186628781
|
0.00002
|
NM_004006.3(DMD):c.298G>A (p.Val100Ile)
|
rs779099343
|
0.00002
|
NM_004006.3(DMD):c.3029C>T (p.Ala1010Val)
|
rs780896933
|
0.00002
|
NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe)
|
rs375329908
|
0.00002
|
NM_004006.3(DMD):c.3619G>A (p.Ala1207Thr)
|
rs1448639542
|
0.00002
|
NM_004006.3(DMD):c.3953A>G (p.Asp1318Gly)
|
rs759820971
|
0.00002
|
NM_004006.3(DMD):c.4728G>C (p.Met1576Ile)
|
rs757160024
|
0.00002
|
NM_004006.3(DMD):c.5022G>T (p.Leu1674Phe)
|
rs398123975
|
0.00002
|
NM_004006.3(DMD):c.5863C>T (p.Arg1955Cys)
|
rs377039314
|
0.00002
|
NM_004006.3(DMD):c.6787C>T (p.Arg2263Cys)
|
rs200045725
|
0.00002
|
NM_004006.3(DMD):c.7429C>T (p.Arg2477Trp)
|
rs759274835
|
0.00002
|
NM_004006.3(DMD):c.7585G>C (p.Glu2529Gln)
|
rs771509836
|
0.00002
|
NM_004006.3(DMD):c.7711C>T (p.Arg2571Trp)
|
rs757011771
|
0.00002
|
NM_004006.3(DMD):c.772C>A (p.Pro258Thr)
|
rs773066825
|
0.00002
|
NM_004100.5(EYA4):c.233C>G (p.Thr78Arg)
|
rs201644472
|
0.00002
|
NM_004100.5(EYA4):c.370+16C>T
|
rs376239950
|
0.00002
|
NM_004168.4(SDHA):c.1652C>T (p.Thr551Met)
|
rs181238392
|
0.00002
|
NM_004168.4(SDHA):c.445G>A (p.Ala149Thr)
|
rs575617625
|
0.00002
|
NM_004168.4(SDHA):c.809A>T (p.His270Leu)
|
rs1381228775
|
0.00002
|
NM_004281.4(BAG3):c.-155C>G
|
rs963964101
|
0.00002
|
NM_004281.4(BAG3):c.1239C>T (p.Ala413=)
|
rs201137108
|
0.00002
|
NM_004281.4(BAG3):c.1411G>A (p.Glu471Lys)
|
rs778496291
|
0.00002
|
NM_004281.4(BAG3):c.1558C>T (p.Pro520Ser)
|
rs760699965
|
0.00002
|
NM_004281.4(BAG3):c.386C>T (p.Ala129Val)
|
rs876657747
|
0.00002
|
NM_004281.4(BAG3):c.897C>T (p.Val299=)
|
rs763915884
|
0.00002
|
NM_004333.6(BRAF):c.1433-18G>A
|
rs763267814
|
0.00002
|
NM_004415.4(DSP):c.1040T>C (p.Ile347Thr)
|
rs757208743
|
0.00002
|
NM_004415.4(DSP):c.104G>C (p.Gly35Ala)
|
rs202194206
|
0.00002
|
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp)
|
rs372467697
|
0.00002
|
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys)
|
rs749051278
|
0.00002
|
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val)
|
rs376555665
|
0.00002
|
NM_004415.4(DSP):c.4233G>C (p.Arg1411Ser)
|
rs771721410
|
0.00002
|
NM_004415.4(DSP):c.449G>A (p.Arg150Gln)
|
rs587782940
|
0.00002
|
NM_004415.4(DSP):c.4867T>C (p.Ser1623Pro)
|
rs749679496
|
0.00002
|
NM_004415.4(DSP):c.5193C>T (p.Tyr1731=)
|
rs201663619
|
0.00002
|
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)
|
rs34738426
|
0.00002
|
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)
|
rs372393122
|
0.00002
|
NM_004415.4(DSP):c.6476A>T (p.Tyr2159Phe)
|
rs1581822548
|
0.00002
|
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile)
|
rs397516953
|
0.00002
|
NM_004415.4(DSP):c.740C>T (p.Ala247Val)
|
rs544360130
|
0.00002
|
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile)
|
rs869025397
|
0.00002
|
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly)
|
rs397516972
|
0.00002
|
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter)
|
rs727503326
|
0.00002
|
NM_005159.5(ACTC1):c.456C>T (p.Gly152=)
|
rs771310484
|
0.00002
|
NM_005633.4(SOS1):c.1010A>G (p.Tyr337Cys)
|
rs724160007
|
0.00002
|
NM_005633.4(SOS1):c.169A>T (p.Asn57Tyr)
|
rs765764610
|
0.00002
|
NM_005633.4(SOS1):c.2369T>C (p.Leu790Ser)
|
rs139859866
|
0.00002
|
NM_005633.4(SOS1):c.3148A>G (p.Met1050Val)
|
rs886041814
|
0.00002
|
NM_005633.4(SOS1):c.3592A>G (p.Ile1198Val)
|
rs747534810
|
0.00002
|
NM_006073.4(TRDN):c.127A>G (p.Thr43Ala)
|
rs367564871
|
0.00002
|
NM_006073.4(TRDN):c.1975+5G>T
|
rs899940538
|
0.00002
|
NM_006073.4(TRDN):c.2110T>A (p.Phe704Ile)
|
rs780892167
|
0.00002
|
NM_006073.4(TRDN):c.931+10T>A
|
rs754118635
|
0.00002
|
NM_006939.4(SOS2):c.2384+5A>G
|
rs376903120
|
0.00002
|
NM_007078.3(LDB3):c.1520C>A (p.Thr507Asn)
|
rs150188572
|
0.00002
|
NM_007078.3(LDB3):c.155T>C (p.Ile52Thr)
|
rs1449865053
|
0.00002
|
NM_007078.3(LDB3):c.1703G>A (p.Arg568His)
|
rs769156627
|
0.00002
|
NM_007078.3(LDB3):c.1774G>C (p.Glu592Gln)
|
rs727504944
|
0.00002
|
NM_007078.3(LDB3):c.338C>T (p.Thr113Met)
|
rs563714303
|
0.00002
|
NM_007078.3(LDB3):c.356C>T (p.Ala119Val)
|
rs397517223
|
0.00002
|
NM_007078.3(LDB3):c.818G>A (p.Arg273His)
|
rs763481542
|
0.00002
|
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala)
|
rs730881018
|
0.00002
|
NM_013266.4(CTNNA3):c.1451G>A (p.Arg484His)
|
rs748621335
|
0.00002
|
NM_014000.3(VCL):c.1031G>C (p.Gly344Ala)
|
rs778875353
|
0.00002
|
NM_014000.3(VCL):c.1558C>T (p.Arg520Trp)
|
rs377722209
|
0.00002
|
NM_014000.3(VCL):c.1606C>A (p.Pro536Thr)
|
rs370058111
|
0.00002
|
NM_014000.3(VCL):c.2038C>T (p.Arg680Cys)
|
rs759356162
|
0.00002
|
NM_014000.3(VCL):c.2747C>T (p.Pro916Leu)
|
rs143321584
|
0.00002
|
NM_014000.3(VCL):c.2905G>A (p.Ala969Thr)
|
rs199751261
|
0.00002
|
NM_014000.3(VCL):c.806C>G (p.Ala269Gly)
|
rs762710405
|
0.00002
|
NM_014000.3(VCL):c.853C>T (p.Arg285Cys)
|
rs757517552
|
0.00002
|
NM_014908.4(DOLK):c.-22G>A
|
rs754288997
|
0.00002
|
NM_014908.4(DOLK):c.1006G>A (p.Ala336Thr)
|
rs769241947
|
0.00002
|
NM_014908.4(DOLK):c.1201_1202del (p.Ser401fs)
|
rs919111760
|
0.00002
|
NM_014908.4(DOLK):c.1315G>A (p.Val439Ile)
|
rs372057636
|
0.00002
|
NM_014908.4(DOLK):c.572C>A (p.Pro191His)
|
rs767965852
|
0.00002
|
NM_014908.4(DOLK):c.589G>A (p.Val197Ile)
|
rs373587710
|
0.00002
|
NM_014908.4(DOLK):c.8G>A (p.Arg3Gln)
|
rs373115419
|
0.00002
|
NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln)
|
rs145006140
|
0.00002
|
NM_020297.4(ABCC9):c.1828_1829del (p.Leu610fs)
|
rs776934642
|
0.00002
|
NM_020297.4(ABCC9):c.3462G>A (p.Arg1154=)
|
rs1336342134
|
0.00002
|
NM_020297.4(ABCC9):c.3590G>A (p.Arg1197His)
|
rs755156050
|
0.00002
|
NM_020297.4(ABCC9):c.575G>A (p.Arg192Lys)
|
rs727504612
|
0.00002
|
NM_020433.5(JPH2):c.1772G>T (p.Gly591Val)
|
rs766721028
|
0.00002
|
NM_020433.5(JPH2):c.541G>A (p.Ala181Thr)
|
rs1304705938
|
0.00002
|
NM_021167.5(GATAD1):c.406A>G (p.Ile136Val)
|
rs200665705
|
0.00002
|
NM_022114.4(PRDM16):c.1116G>A (p.Gly372=)
|
rs757093442
|
0.00002
|
NM_022114.4(PRDM16):c.1745G>A (p.Arg582His)
|
rs529401311
|
0.00002
|
NM_022114.4(PRDM16):c.3595C>T (p.Arg1199Cys)
|
rs376762015
|
0.00002
|
NM_024334.3(TMEM43):c.1000+5G>T
|
rs376589026
|
0.00002
|
NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala)
|
rs397517386
|
0.00002
|
NM_024422.6(DSC2):c.1667G>A (p.Gly556Glu)
|
rs977269905
|
0.00002
|
NM_024422.6(DSC2):c.2287G>A (p.Ala763Thr)
|
rs777004957
|
0.00002
|
NM_024422.6(DSC2):c.2392C>T (p.Arg798Trp)
|
rs201548399
|
0.00002
|
NM_024422.6(DSC2):c.658G>A (p.Gly220Arg)
|
rs750961818
|
0.00002
|
NM_024422.6(DSC2):c.745A>C (p.Thr249Pro)
|
rs149848359
|
0.00002
|
NM_030662.4(MAP2K2):c.528G>A (p.Ala176=)
|
rs767939999
|
0.00002
|
NM_030662.4(MAP2K2):c.535C>T (p.Arg179Trp)
|
rs370799450
|
0.00002
|
NM_032578.4(MYPN):c.1716A>C (p.Gln572His)
|
rs567930066
|
0.00002
|
NM_032578.4(MYPN):c.3131G>A (p.Arg1044Gln)
|
rs142874859
|
0.00002
|
NM_032578.4(MYPN):c.3485C>G (p.Ser1162Cys)
|
rs548754907
|
0.00002
|
NM_033118.4(MYLK2):c.305C>T (p.Ala102Val)
|
rs763316056
|
0.00002
|
NM_033337.3(CAV3):c.*441T>C
|
rs1161338634
|
0.00002
|
NM_033337.3(CAV3):c.401C>T (p.Ala134Val)
|
rs201267913
|
0.00002
|
NM_033360.4(KRAS):c.389C>T (p.Ala130Val)
|
rs730880473
|
0.00002
|
NM_133379.5(TTN):c.11179A>G (p.Ile3727Val)
|
rs142723709
|
0.00002
|
NM_133379.5(TTN):c.12332C>T (p.Thr4111Ile)
|
rs370317019
|
0.00002
|
NM_133379.5(TTN):c.13444A>G (p.Ile4482Val)
|
rs149169686
|
0.00002
|
NM_133379.5(TTN):c.14062G>A (p.Val4688Met)
|
rs1476964512
|
0.00002
|
NM_144573.4(NEXN):c.1046G>C (p.Arg349Thr)
|
rs898035834
|
0.00002
|
NM_144573.4(NEXN):c.874G>A (p.Asp292Asn)
|
rs373377525
|
0.00002
|
NM_170707.4(LMNA):c.-1C>A
|
rs886043355
|
0.00002
|
NM_170707.4(LMNA):c.1187A>T (p.Gln396Leu)
|
rs61693978
|
0.00002
|
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys)
|
rs373584456
|
0.00002
|
NM_170707.4(LMNA):c.1608+10C>T
|
rs748917147
|
0.00002
|
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu)
|
rs59601651
|
0.00002
|
NM_170707.4(LMNA):c.1857T>C (p.Ser619=)
|
rs368581237
|
0.00002
|
NM_170707.4(LMNA):c.1960C>T (p.Arg654Ter)
|
rs267607544
|
0.00002
|
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr)
|
rs1060502216
|
0.00002
|
NM_170707.4(LMNA):c.566G>A (p.Arg189Gln)
|
rs766856162
|
0.00002
|
NM_170707.4(LMNA):c.647G>A (p.Arg216His)
|
rs757041809
|
0.00002
|
NM_170707.4(LMNA):c.886C>T (p.Arg296Cys)
|
rs375987939
|
0.00002
|
NM_170707.4(LMNA):c.977C>T (p.Ser326Leu)
|
rs745540806
|
0.00002
|
NM_170707.4(LMNA):c.986G>A (p.Arg329His)
|
rs397517913
|
0.00002
|
NM_182961.4(SYNE1):c.10070C>T (p.Pro3357Leu)
|
rs748499952
|
0.00002
|
NM_182961.4(SYNE1):c.22493A>C (p.Glu7498Ala)
|
rs774655615
|
0.00002
|
NM_182961.4(SYNE1):c.9953G>A (p.Ser3318Asn)
|
rs746689638
|
0.00002
|
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met)
|
rs149116708
|
0.00001
|
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp)
|
rs113994170
|
0.00001
|
NM_000018.4(ACADVL):c.1552G>A (p.Gly518Ser)
|
rs374507980
|
0.00001
|
NM_000018.4(ACADVL):c.661A>G (p.Ser221Gly)
|
rs767063791
|
0.00001
|
NM_000018.4(ACADVL):c.782T>C (p.Val261Ala)
|
rs756069599
|
0.00001
|
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs)
|
rs753108198
|
0.00001
|
NM_000023.4(SGCA):c.*12+2T>C
|
rs1297436069
|
0.00001
|
NM_000023.4(SGCA):c.157+1G>A
|
rs113109898
|
0.00001
|
NM_000023.4(SGCA):c.700G>A (p.Asp234Asn)
|
rs760608643
|
0.00001
|
NM_000117.3(EMD):c.400-6C>T
|
rs782396776
|
0.00001
|
NM_000117.3(EMD):c.593C>T (p.Ser198Phe)
|
rs1569552105
|
0.00001
|
NM_000117.3(EMD):c.620G>A (p.Arg207Gln)
|
rs782352489
|
0.00001
|
NM_000117.3(EMD):c.631C>T (p.Arg211Cys)
|
rs782193940
|
0.00001
|
NM_000126.4(ETFA):c.39G>A (p.Ala13=)
|
rs776956043
|
0.00001
|
NM_000152.5(GAA):c.1076-1G>C
|
rs1555600050
|
0.00001
|
NM_000152.5(GAA):c.1076-3C>T
|
rs1220435321
|
0.00001
|
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu)
|
rs755253527
|
0.00001
|
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys)
|
rs963719602
|
0.00001
|
NM_000152.5(GAA):c.118C>T (p.Arg40Ter)
|
rs767409395
|
0.00001
|
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)
|
rs141533320
|
0.00001
|
NM_000152.5(GAA):c.1231C>T (p.Arg411Trp)
|
rs772730706
|
0.00001
|
NM_000152.5(GAA):c.1326+20G>A
|
rs774138443
|
0.00001
|
NM_000152.5(GAA):c.1361G>A (p.Ser454Asn)
|
rs2039191738
|
0.00001
|
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)
|
rs886043148
|
0.00001
|
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile)
|
rs768500880
|
0.00001
|
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs)
|
rs770276275
|
0.00001
|
NM_000152.5(GAA):c.1551+12C>A
|
rs937342824
|
0.00001
|
NM_000152.5(GAA):c.1551+1G>T
|
rs770780848
|
0.00001
|
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)
|
rs773576381
|
0.00001
|
NM_000152.5(GAA):c.1637-11G>A
|
rs557695694
|
0.00001
|
NM_000152.5(GAA):c.1643T>C (p.Val548Ala)
|
rs754686630
|
0.00001
|
NM_000152.5(GAA):c.1757C>T (p.Ala586Val)
|
rs770021831
|
0.00001
|
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp)
|
rs770983413
|
0.00001
|
NM_000152.5(GAA):c.1772G>A (p.Arg591Gln)
|
rs528010457
|
0.00001
|
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg)
|
rs549029029
|
0.00001
|
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn)
|
rs753269119
|
0.00001
|
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala)
|
rs1235035841
|
0.00001
|
NM_000152.5(GAA):c.1962_1964del (p.Glu656del)
|
rs1030961946
|
0.00001
|
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp)
|
rs757111744
|
0.00001
|
NM_000152.5(GAA):c.2041-13G>A
|
rs1450561353
|
0.00001
|
NM_000152.5(GAA):c.206A>G (p.Gln69Arg)
|
rs767191385
|
0.00001
|
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)
|
rs786204645
|
0.00001
|
NM_000152.5(GAA):c.217G>A (p.Gly73Ser)
|
rs760644219
|
0.00001
|
NM_000152.5(GAA):c.2189+1G>T
|
rs1209887739
|
0.00001
|
NM_000152.5(GAA):c.2198A>G (p.Lys733Arg)
|
rs763612880
|
0.00001
|
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn)
|
rs941181575
|
0.00001
|
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter)
|
rs369532274
|
0.00001
|
NM_000152.5(GAA):c.2521A>G (p.Met841Val)
|
rs1184116513
|
0.00001
|
NM_000152.5(GAA):c.2619C>T (p.Tyr873=)
|
rs1555603132
|
0.00001
|
NM_000152.5(GAA):c.2647-7G>A
|
rs192679574
|
0.00001
|
NM_000152.5(GAA):c.265C>T (p.Arg89Cys)
|
rs534192892
|
0.00001
|
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu)
|
rs1343332597
|
0.00001
|
NM_000152.5(GAA):c.347G>T (p.Gly116Val)
|
rs754285414
|
0.00001
|
NM_000152.5(GAA):c.425G>A (p.Ser142Asn)
|
rs754195673
|
0.00001
|
NM_000152.5(GAA):c.461G>A (p.Arg154His)
|
rs781124934
|
0.00001
|
NM_000152.5(GAA):c.514A>G (p.Met172Val)
|
rs1307823755
|
0.00001
|
NM_000152.5(GAA):c.532C>T (p.Arg178Cys)
|
rs762439362
|
0.00001
|
NM_000152.5(GAA):c.576G>C (p.Glu192Asp)
|
rs760655446
|
0.00001
|
NM_000152.5(GAA):c.670C>T (p.Arg224Trp)
|
rs757700700
|
0.00001
|
NM_000152.5(GAA):c.683G>A (p.Gly228Asp)
|
rs1470881018
|
0.00001
|
NM_000152.5(GAA):c.743T>C (p.Leu248Pro)
|
rs1443844938
|
0.00001
|
NM_000152.5(GAA):c.783C>T (p.Ala261=)
|
rs757356178
|
0.00001
|
NM_000152.5(GAA):c.871C>T (p.Leu291Phe)
|
rs773417785
|
0.00001
|
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)
|
rs1057516600
|
0.00001
|
NM_000157.4(GBA1):c.1043C>G (p.Ala348Gly)
|
rs78396650
|
0.00001
|
NM_000157.4(GBA1):c.104C>T (p.Ser35Leu)
|
rs757041827
|
0.00001
|
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile)
|
rs76539814
|
0.00001
|
NM_000157.4(GBA1):c.1090G>A (p.Gly364Arg)
|
rs121908305
|
0.00001
|
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)
|
rs121908311
|
0.00001
|
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)
|
rs80356769
|
0.00001
|
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp)
|
rs1141814
|
0.00001
|
NM_000157.4(GBA1):c.595_596del (p.Leu199fs)
|
rs749714463
|
0.00001
|
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)
|
rs1064644
|
0.00001
|
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)
|
rs381737
|
0.00001
|
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)
|
rs74500255
|
0.00001
|
NM_000157.4(GBA1):c.896T>C (p.Ile299Thr)
|
rs794727908
|
0.00001
|
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln)
|
rs373966336
|
0.00001
|
NM_000182.5(HADHA):c.2026C>T (p.Arg676Cys)
|
rs771028541
|
0.00001
|
NM_000182.5(HADHA):c.67+3G>A
|
rs759265828
|
0.00001
|
NM_000203.5(IDUA):c.1190-2A>T
|
rs994902207
|
0.00001
|
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)
|
rs794726877
|
0.00001
|
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu)
|
rs886043347
|
0.00001
|
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)
|
rs754966840
|
0.00001
|
NM_000203.5(IDUA):c.600C>G (p.Asn200Lys)
|
rs763375487
|
0.00001
|
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)
|
rs869025584
|
0.00001
|
NM_000203.5(IDUA):c.90C>G (p.His30Gln)
|
rs553425887
|
0.00001
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000218.3(KCNQ1):c.1109C>T (p.Ala370Val)
|
rs775362401
|
0.00001
|
NM_000218.3(KCNQ1):c.1202G>A (p.Arg401Gln)
|
rs542628042
|
0.00001
|
NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn)
|
rs149089817
|
0.00001
|
NM_000218.3(KCNQ1):c.1351C>T (p.Arg451Trp)
|
rs199472782
|
0.00001
|
NM_000218.3(KCNQ1):c.1377C>T (p.Asp459=)
|
rs200418488
|
0.00001
|
NM_000218.3(KCNQ1):c.1501A>G (p.Thr501Ala)
|
rs749196110
|
0.00001
|
NM_000218.3(KCNQ1):c.1520G>A (p.Arg507Gln)
|
rs369571296
|
0.00001
|
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)
|
rs397508097
|
0.00001
|
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)
|
rs199472795
|
0.00001
|
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)
|
rs199472800
|
0.00001
|
NM_000218.3(KCNQ1):c.1686-18C>G
|
rs1846715620
|
0.00001
|
NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser)
|
rs780676796
|
0.00001
|
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)
|
rs199472815
|
0.00001
|
NM_000218.3(KCNQ1):c.1864G>A (p.Gly622Ser)
|
rs1225780996
|
0.00001
|
NM_000218.3(KCNQ1):c.1904G>A (p.Gly635Glu)
|
rs939431028
|
0.00001
|
NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met)
|
rs199472693
|
0.00001
|
NM_000218.3(KCNQ1):c.514G>A (p.Val172Met)
|
rs199472694
|
0.00001
|
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)
|
rs199472696
|
0.00001
|
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His)
|
rs199472697
|
0.00001
|
NM_000218.3(KCNQ1):c.559C>T (p.Leu187Phe)
|
rs1282771390
|
0.00001
|
NM_000218.3(KCNQ1):c.574C>T (p.Arg192Cys)
|
rs775059928
|
0.00001
|
NM_000218.3(KCNQ1):c.604+12C>T
|
rs370821907
|
0.00001
|
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)
|
rs199472702
|
0.00001
|
NM_000218.3(KCNQ1):c.644T>G (p.Val215Gly)
|
rs368011737
|
0.00001
|
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)
|
rs199473456
|
0.00001
|
NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp)
|
rs199472726
|
0.00001
|
NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter)
|
rs120074186
|
0.00001
|
NM_000231.3(SGCG):c.100C>T (p.Arg34Cys)
|
rs747549369
|
0.00001
|
NM_000231.3(SGCG):c.629A>G (p.His210Arg)
|
rs1045567625
|
0.00001
|
NM_000231.3(SGCG):c.781C>G (p.Leu261Val)
|
rs1460327315
|
0.00001
|
NM_000256.3(MYBPC3):c.1037G>A (p.Arg346His)
|
rs397515883
|
0.00001
|
NM_000256.3(MYBPC3):c.1153G>A (p.Val385Met)
|
rs772073491
|
0.00001
|
NM_000256.3(MYBPC3):c.11C>T (p.Pro4Leu)
|
rs748689012
|
0.00001
|
NM_000256.3(MYBPC3):c.1227-9C>A
|
rs11570079
|
0.00001
|
NM_000256.3(MYBPC3):c.122G>A (p.Arg41His)
|
rs764849803
|
0.00001
|
NM_000256.3(MYBPC3):c.1357C>G (p.Pro453Ala)
|
rs749310275
|
0.00001
|
NM_000256.3(MYBPC3):c.1363C>T (p.Leu455Phe)
|
rs747686377
|
0.00001
|
NM_000256.3(MYBPC3):c.1373G>A (p.Arg458His)
|
rs374255707
|
0.00001
|
NM_000256.3(MYBPC3):c.1375C>T (p.Pro459Ser)
|
rs758901980
|
0.00001
|
NM_000256.3(MYBPC3):c.1471G>A (p.Val491Met)
|
rs730880543
|
0.00001
|
NM_000256.3(MYBPC3):c.1499A>C (p.Lys500Thr)
|
rs761672176
|
0.00001
|
NM_000256.3(MYBPC3):c.1540A>G (p.Ile514Val)
|
rs727503200
|
0.00001
|
NM_000256.3(MYBPC3):c.1585A>T (p.Thr529Ser)
|
rs1165486681
|
0.00001
|
NM_000256.3(MYBPC3):c.1809T>G (p.Ile603Met)
|
rs774348756
|
0.00001
|
NM_000256.3(MYBPC3):c.188G>A (p.Arg63Gln)
|
rs549239819
|
0.00001
|
NM_000256.3(MYBPC3):c.1897+3G>A
|
rs937023392
|
0.00001
|
NM_000256.3(MYBPC3):c.1935C>T (p.Pro645=)
|
rs727503193
|
0.00001
|
NM_000256.3(MYBPC3):c.1976T>C (p.Ile659Thr)
|
rs397515941
|
0.00001
|
NM_000256.3(MYBPC3):c.2269G>A (p.Val757Met)
|
rs369790992
|
0.00001
|
NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr)
|
rs368104687
|
0.00001
|
NM_000256.3(MYBPC3):c.2327C>T (p.Ala776Val)
|
rs1188736507
|
0.00001
|
NM_000256.3(MYBPC3):c.2399G>A (p.Gly800Glu)
|
rs1273374175
|
0.00001
|
NM_000256.3(MYBPC3):c.2512G>C (p.Glu838Gln)
|
rs397515969
|
0.00001
|
NM_000256.3(MYBPC3):c.2671C>T (p.Arg891Trp)
|
rs727504418
|
0.00001
|
NM_000256.3(MYBPC3):c.271G>A (p.Asp91Asn)
|
rs778851720
|
0.00001
|
NM_000256.3(MYBPC3):c.2849C>A (p.Ala950Glu)
|
rs730880577
|
0.00001
|
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)
|
rs397515990
|
0.00001
|
NM_000256.3(MYBPC3):c.2927C>G (p.Pro976Arg)
|
rs954096716
|
0.00001
|
NM_000256.3(MYBPC3):c.3098G>A (p.Arg1033Gln)
|
rs397516003
|
0.00001
|
NM_000256.3(MYBPC3):c.3109C>T (p.Arg1037Cys)
|
rs758421775
|
0.00001
|
NM_000256.3(MYBPC3):c.3190+1G>A
|
rs111683277
|
0.00001
|
NM_000256.3(MYBPC3):c.3190+2T>G
|
rs113358486
|
0.00001
|
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)
|
rs121909377
|
0.00001
|
NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys)
|
rs368721523
|
0.00001
|
NM_000256.3(MYBPC3):c.35T>C (p.Phe12Ser)
|
rs1462884291
|
0.00001
|
NM_000256.3(MYBPC3):c.3605G>C (p.Cys1202Ser)
|
rs727503170
|
0.00001
|
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)
|
rs368765949
|
0.00001
|
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)
|
rs397516037
|
0.00001
|
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter)
|
rs397516042
|
0.00001
|
NM_000256.3(MYBPC3):c.3812G>A (p.Arg1271Gln)
|
rs762225417
|
0.00001
|
NM_000256.3(MYBPC3):c.451G>A (p.Asp151Asn)
|
rs397516051
|
0.00001
|
NM_000256.3(MYBPC3):c.681C>T (p.Thr227=)
|
rs756894628
|
0.00001
|
NM_000256.3(MYBPC3):c.721G>C (p.Val241Leu)
|
rs886039000
|
0.00001
|
NM_000256.3(MYBPC3):c.821C>T (p.Thr274Met)
|
rs748746951
|
0.00001
|
NM_000256.3(MYBPC3):c.901A>C (p.Lys301Gln)
|
rs730880629
|
0.00001
|
NM_000257.4(MYH7):c.124G>A (p.Asp42Asn)
|
rs780785242
|
0.00001
|
NM_000257.4(MYH7):c.1257+7C>A
|
rs759480696
|
0.00001
|
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)
|
rs397516103
|
0.00001
|
NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala)
|
rs397516119
|
0.00001
|
NM_000257.4(MYH7):c.1772T>C (p.Ile591Thr)
|
rs775089432
|
0.00001
|
NM_000257.4(MYH7):c.1879G>T (p.Ala627Ser)
|
rs1174863002
|
0.00001
|
NM_000257.4(MYH7):c.2137A>G (p.Ile713Val)
|
rs1339799654
|
0.00001
|
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)
|
rs121913637
|
0.00001
|
NM_000257.4(MYH7):c.2508C>G (p.Ile836Met)
|
rs772442923
|
0.00001
|
NM_000257.4(MYH7):c.2556G>A (p.Met852Ile)
|
rs1343088568
|
0.00001
|
NM_000257.4(MYH7):c.2570C>T (p.Thr857Ile)
|
rs397516158
|
0.00001
|
NM_000257.4(MYH7):c.2677G>A (p.Ala893Thr)
|
rs750204313
|
0.00001
|
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly)
|
rs397516161
|
0.00001
|
NM_000257.4(MYH7):c.268A>G (p.Met90Val)
|
rs769054108
|
0.00001
|
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)
|
rs267606908
|
0.00001
|
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val)
|
rs730880761
|
0.00001
|
NM_000257.4(MYH7):c.2973G>T (p.Lys991Asn)
|
rs727504388
|
0.00001
|
NM_000257.4(MYH7):c.3010C>G (p.Gln1004Glu)
|
rs730880762
|
0.00001
|
NM_000257.4(MYH7):c.3028C>T (p.Leu1010Phe)
|
rs768312155
|
0.00001
|
NM_000257.4(MYH7):c.3110C>A (p.Ser1037Tyr)
|
rs1159928168
|
0.00001
|
NM_000257.4(MYH7):c.3200T>C (p.Met1067Thr)
|
rs763564858
|
0.00001
|
NM_000257.4(MYH7):c.3245+2T>G
|
rs113859723
|
0.00001
|
NM_000257.4(MYH7):c.3455A>T (p.Glu1152Val)
|
rs397516184
|
0.00001
|
NM_000257.4(MYH7):c.3457G>A (p.Ala1153Thr)
|
rs774812187
|
0.00001
|
NM_000257.4(MYH7):c.3589G>A (p.Ala1197Thr)
|
rs1487430775
|
0.00001
|
NM_000257.4(MYH7):c.3610G>C (p.Gly1204Arg)
|
rs397516188
|
0.00001
|
NM_000257.4(MYH7):c.3711G>A (p.Gln1237=)
|
rs1361182615
|
0.00001
|
NM_000257.4(MYH7):c.3734T>A (p.Leu1245Gln)
|
rs397516192
|
0.00001
|
NM_000257.4(MYH7):c.3830G>A (p.Arg1277Gln)
|
rs397516195
|
0.00001
|
NM_000257.4(MYH7):c.3866G>A (p.Arg1289Gln)
|
rs1287612987
|
0.00001
|
NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys)
|
rs730880785
|
0.00001
|
NM_000257.4(MYH7):c.3994G>A (p.Ala1332Thr)
|
rs397516198
|
0.00001
|
NM_000257.4(MYH7):c.4004C>T (p.Ser1335Leu)
|
rs397516199
|
0.00001
|
NM_000257.4(MYH7):c.4042G>A (p.Glu1348Lys)
|
rs1275262402
|
0.00001
|
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)
|
rs397516201
|
0.00001
|
NM_000257.4(MYH7):c.4219G>A (p.Val1407Ile)
|
rs730880795
|
0.00001
|
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)
|
rs145213771
|
0.00001
|
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)
|
rs397516209
|
0.00001
|
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser)
|
rs745414245
|
0.00001
|
NM_000257.4(MYH7):c.4353+20C>T
|
rs199912646
|
0.00001
|
NM_000257.4(MYH7):c.4440G>T (p.Glu1480Asp)
|
rs1351661186
|
0.00001
|
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)
|
rs397516225
|
0.00001
|
NM_000257.4(MYH7):c.4679G>A (p.Arg1560Gln)
|
rs730880806
|
0.00001
|
NM_000257.4(MYH7):c.4775G>A (p.Arg1592Gln)
|
rs1257980330
|
0.00001
|
NM_000257.4(MYH7):c.4807G>A (p.Ala1603Thr)
|
rs730880809
|
0.00001
|
NM_000257.4(MYH7):c.493A>G (p.Met165Val)
|
rs730880839
|
0.00001
|
NM_000257.4(MYH7):c.5026C>T (p.Arg1676Trp)
|
rs753115999
|
0.00001
|
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His)
|
rs730880914
|
0.00001
|
NM_000257.4(MYH7):c.5037C>G (p.Asn1679Lys)
|
rs1358888752
|
0.00001
|
NM_000257.4(MYH7):c.5065C>T (p.Arg1689Cys)
|
rs730880915
|
0.00001
|
NM_000257.4(MYH7):c.5066G>A (p.Arg1689His)
|
rs772008016
|
0.00001
|
NM_000257.4(MYH7):c.5157G>A (p.Gln1719=)
|
rs769875223
|
0.00001
|
NM_000257.4(MYH7):c.5203T>A (p.Ser1735Thr)
|
rs144066768
|
0.00001
|
NM_000257.4(MYH7):c.5229G>T (p.Glu1743Asp)
|
rs149509691
|
0.00001
|
NM_000257.4(MYH7):c.5386C>T (p.Arg1796Trp)
|
rs748598020
|
0.00001
|
NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp)
|
rs763073072
|
0.00001
|
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys)
|
rs730880821
|
0.00001
|
NM_000257.4(MYH7):c.5587C>T (p.Arg1863Trp)
|
rs376668612
|
0.00001
|
NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln)
|
rs45520836
|
0.00001
|
NM_000257.4(MYH7):c.5606A>G (p.Asp1869Gly)
|
rs730880824
|
0.00001
|
NM_000257.4(MYH7):c.5647G>A (p.Glu1883Lys)
|
rs121913652
|
0.00001
|
NM_000257.4(MYH7):c.5661G>A (p.Glu1887=)
|
rs730880727
|
0.00001
|
NM_000257.4(MYH7):c.5671A>G (p.Thr1891Ala)
|
rs1295948508
|
0.00001
|
NM_000257.4(MYH7):c.5737G>A (p.Ala1913Thr)
|
rs747451109
|
0.00001
|
NM_000257.4(MYH7):c.5774G>A (p.Arg1925His)
|
rs752553589
|
0.00001
|
NM_000257.4(MYH7):c.610C>T (p.Arg204Cys)
|
rs397516259
|
0.00001
|
NM_000257.4(MYH7):c.68G>A (p.Arg23Gln)
|
rs1169518192
|
0.00001
|
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)
|
rs397516265
|
0.00001
|
NM_000257.4(MYH7):c.76G>A (p.Ala26Thr)
|
rs775643803
|
0.00001
|
NM_000257.4(MYH7):c.969T>G (p.Ile323Met)
|
rs730880861
|
0.00001
|
NM_000258.3(MYL3):c.235G>A (p.Val79Ile)
|
rs150634297
|
0.00001
|
NM_000258.3(MYL3):c.241C>T (p.Arg81Trp)
|
rs761891361
|
0.00001
|
NM_000258.3(MYL3):c.507G>A (p.Val169=)
|
rs1166390418
|
0.00001
|
NM_000258.3(MYL3):c.517A>G (p.Met173Val)
|
rs199474708
|
0.00001
|
NM_000258.3(MYL3):c.557A>C (p.Glu186Ala)
|
rs374329098
|
0.00001
|
NM_000258.3(MYL3):c.71C>T (p.Ala24Val)
|
rs373278317
|
0.00001
|
NM_000335.5(SCN5A):c.*204T>C
|
rs147795595
|
0.00001
|
NM_000335.5(SCN5A):c.1051G>A (p.Gly351Ser)
|
rs201276017
|
0.00001
|
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys)
|
rs199473097
|
0.00001
|
NM_000335.5(SCN5A):c.1517T>A (p.Met506Lys)
|
rs760531609
|
0.00001
|
NM_000335.5(SCN5A):c.152C>T (p.Ala51Val)
|
rs727505131
|
0.00001
|
NM_000335.5(SCN5A):c.1537C>T (p.Arg513Cys)
|
rs145733679
|
0.00001
|
NM_000335.5(SCN5A):c.154C>T (p.Pro52Ser)
|
rs199473553
|
0.00001
|
NM_000335.5(SCN5A):c.1595T>G (p.Phe532Cys)
|
rs199473573
|
0.00001
|
NM_000335.5(SCN5A):c.1606G>C (p.Asp536His)
|
rs1475895120
|
0.00001
|
NM_000335.5(SCN5A):c.1705C>T (p.Arg569Trp)
|
rs199473576
|
0.00001
|
NM_000335.5(SCN5A):c.1820G>T (p.Gly607Val)
|
rs757119370
|
0.00001
|
NM_000335.5(SCN5A):c.1895C>T (p.Thr632Met)
|
rs199473134
|
0.00001
|
NM_000335.5(SCN5A):c.1946G>A (p.Cys649Tyr)
|
rs1380959630
|
0.00001
|
NM_000335.5(SCN5A):c.1955G>A (p.Gly652Asp)
|
rs762737339
|
0.00001
|
NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys)
|
rs199473579
|
0.00001
|
NM_000335.5(SCN5A):c.2038C>T (p.Arg680Cys)
|
rs376173627
|
0.00001
|
NM_000335.5(SCN5A):c.210T>G (p.Asn70Lys)
|
rs199473050
|
0.00001
|
NM_000335.5(SCN5A):c.2236G>A (p.Glu746Lys)
|
rs199473582
|
0.00001
|
NM_000335.5(SCN5A):c.2398C>T (p.Arg800Cys)
|
rs764252430
|
0.00001
|
NM_000335.5(SCN5A):c.2399G>A (p.Arg800His)
|
rs566251672
|
0.00001
|
NM_000335.5(SCN5A):c.2432G>A (p.Arg811His)
|
rs769349991
|
0.00001
|
NM_000335.5(SCN5A):c.2599G>A (p.Glu867Lys)
|
rs199473167
|
0.00001
|
NM_000335.5(SCN5A):c.2621G>A (p.Gly874Asp)
|
rs765698507
|
0.00001
|
NM_000335.5(SCN5A):c.2694G>A (p.Glu898=)
|
rs2061655979
|
0.00001
|
NM_000335.5(SCN5A):c.2878C>A (p.Gln960Lys)
|
rs199473590
|
0.00001
|
NM_000335.5(SCN5A):c.2923C>T (p.Arg975Trp)
|
rs41311135
|
0.00001
|
NM_000335.5(SCN5A):c.3079C>T (p.Arg1027Trp)
|
rs1455337011
|
0.00001
|
NM_000335.5(SCN5A):c.3148G>A (p.Ala1050Thr)
|
rs1373296470
|
0.00001
|
NM_000335.5(SCN5A):c.316A>G (p.Ser106Gly)
|
rs1331765859
|
0.00001
|
NM_000335.5(SCN5A):c.3233C>T (p.Ser1078Phe)
|
rs199473188
|
0.00001
|
NM_000335.5(SCN5A):c.3247G>A (p.Gly1083Ser)
|
rs199473190
|
0.00001
|
NM_000335.5(SCN5A):c.3301G>A (p.Ala1101Thr)
|
rs1481582794
|
0.00001
|
NM_000335.5(SCN5A):c.3335C>T (p.Ala1112Val)
|
rs199473194
|
0.00001
|
NM_000335.5(SCN5A):c.3388A>T (p.Thr1130Ser)
|
rs371469522
|
0.00001
|
NM_000335.5(SCN5A):c.3410A>C (p.Glu1137Ala)
|
rs199473198
|
0.00001
|
NM_000335.5(SCN5A):c.3439G>A (p.Ala1147Thr)
|
rs762810998
|
0.00001
|
NM_000335.5(SCN5A):c.3497G>A (p.Cys1166Tyr)
|
rs993780673
|
0.00001
|
NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr)
|
rs199473595
|
0.00001
|
NM_000335.5(SCN5A):c.3601G>A (p.Val1201Met)
|
rs375509048
|
0.00001
|
NM_000335.5(SCN5A):c.3944G>A (p.Arg1315Gln)
|
rs765907469
|
0.00001
|
NM_000335.5(SCN5A):c.4400T>C (p.Val1467Ala)
|
rs794728883
|
0.00001
|
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met)
|
rs199473282
|
0.00001
|
NM_000335.5(SCN5A):c.4873C>T (p.Arg1625Cys)
|
rs918933961
|
0.00001
|
NM_000335.5(SCN5A):c.4G>A (p.Ala2Thr)
|
rs199473042
|
0.00001
|
NM_000335.5(SCN5A):c.508T>A (p.Phe170Ile)
|
rs371651284
|
0.00001
|
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu)
|
rs137854604
|
0.00001
|
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg)
|
rs199473305
|
0.00001
|
NM_000335.5(SCN5A):c.5365G>A (p.Asp1789Asn)
|
rs772508476
|
0.00001
|
NM_000335.5(SCN5A):c.5455G>A (p.Ala1819Thr)
|
rs764188413
|
0.00001
|
NM_000335.5(SCN5A):c.554C>T (p.Ala185Val)
|
rs199473067
|
0.00001
|
NM_000335.5(SCN5A):c.5687G>A (p.Arg1896Gln)
|
rs761369505
|
0.00001
|
NM_000335.5(SCN5A):c.5800G>A (p.Gly1934Ser)
|
rs199473637
|
0.00001
|
NM_000335.5(SCN5A):c.616A>T (p.Thr206Ser)
|
rs1484635042
|
0.00001
|
NM_000335.5(SCN5A):c.65C>T (p.Ala22Val)
|
rs776925980
|
0.00001
|
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln)
|
rs45546039
|
0.00001
|
NM_000335.5(SCN5A):c.786C>T (p.Ser262=)
|
rs753246399
|
0.00001
|
NM_000335.5(SCN5A):c.787G>A (p.Val263Ile)
|
rs752824646
|
0.00001
|
NM_000335.5(SCN5A):c.893G>A (p.Gly298Asp)
|
rs759383134
|
0.00001
|
NM_000337.6(SGCD):c.*5819G>T
|
rs962759358
|
0.00001
|
NM_000337.6(SGCD):c.434C>G (p.Ser145Cys)
|
rs1324593212
|
0.00001
|
NM_000337.6(SGCD):c.475G>A (p.Val159Ile)
|
rs370327314
|
0.00001
|
NM_000337.6(SGCD):c.559C>T (p.Pro187Ser)
|
rs769250018
|
0.00001
|
NM_000363.5(TNNI3):c.-45C>T
|
rs1242688089
|
0.00001
|
NM_000363.5(TNNI3):c.108+2T>G
|
rs1057520417
|
0.00001
|
NM_000363.5(TNNI3):c.167T>C (p.Ile56Thr)
|
rs545441942
|
0.00001
|
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)
|
rs397516354
|
0.00001
|
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)
|
rs104894727
|
0.00001
|
NM_000363.5(TNNI3):c.620A>G (p.Lys207Arg)
|
rs367672692
|
0.00001
|
NM_000371.4(TTR):c.121C>A (p.Arg41=)
|
rs1004021945
|
0.00001
|
NM_000371.4(TTR):c.127A>C (p.Ser43Arg)
|
rs11541800
|
0.00001
|
NM_000371.4(TTR):c.136A>G (p.Ile46Val)
|
rs773584864
|
0.00001
|
NM_000371.4(TTR):c.151C>A (p.His51Asn)
|
rs915983905
|
0.00001
|
NM_000371.4(TTR):c.263T>C (p.Ile88Thr)
|
rs1567946180
|
0.00001
|
NM_000371.4(TTR):c.301G>A (p.Ala101Thr)
|
rs730881165
|
0.00001
|
NM_000371.4(TTR):c.314C>T (p.Ser105Phe)
|
rs1322942118
|
0.00001
|
NM_000371.4(TTR):c.349G>T (p.Ala117Ser)
|
rs267607161
|
0.00001
|
NM_000371.4(TTR):c.406T>C (p.Tyr136His)
|
rs766909913
|
0.00001
|
NM_000371.4(TTR):c.408T>C (p.Tyr136=)
|
rs1454790119
|
0.00001
|
NM_000371.4(TTR):c.40C>T (p.Leu14=)
|
rs1347695561
|
0.00001
|
NM_000371.4(TTR):c.68C>T (p.Thr23Met)
|
rs377052919
|
0.00001
|
NM_000432.4(MYL2):c.142G>A (p.Asp48Asn)
|
rs727504405
|
0.00001
|
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln)
|
rs104894369
|
0.00001
|
NM_000432.4(MYL2):c.206T>C (p.Met69Thr)
|
rs2071674449
|
0.00001
|
NM_000432.4(MYL2):c.358C>G (p.Arg120Gly)
|
rs397516404
|
0.00001
|
NM_000432.4(MYL2):c.428C>T (p.Pro143Leu)
|
rs727504341
|
0.00001
|
NM_000447.3(PSEN2):c.203T>C (p.Val68Ala)
|
rs765144719
|
0.00001
|
NM_000447.3(PSEN2):c.712C>T (p.Leu238Phe)
|
rs367855127
|
0.00001
|
NM_000475.5(NR0B1):c.59C>G (p.Ala20Gly)
|
rs745852247
|
0.00001
|
NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr)
|
rs761762294
|
0.00001
|
NM_001005242.3(PKP2):c.1138G>A (p.Glu380Lys)
|
rs878898365
|
0.00001
|
NM_001005242.3(PKP2):c.1163G>A (p.Arg388Gln)
|
rs756000218
|
0.00001
|
NM_001005242.3(PKP2):c.1292T>C (p.Leu431Ser)
|
rs143397927
|
0.00001
|
NM_001005242.3(PKP2):c.1367A>C (p.Lys456Thr)
|
rs750897570
|
0.00001
|
NM_001005242.3(PKP2):c.1379-2A>T
|
rs1453983744
|
0.00001
|
NM_001005242.3(PKP2):c.1394T>C (p.Leu465Ser)
|
rs374163198
|
0.00001
|
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=)
|
rs535581825
|
0.00001
|
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln)
|
rs755076586
|
0.00001
|
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter)
|
rs397517012
|
0.00001
|
NM_001005242.3(PKP2):c.1794C>A (p.Asn598Lys)
|
rs727503370
|
0.00001
|
NM_001005242.3(PKP2):c.1916T>C (p.Ile639Thr)
|
rs1956376395
|
0.00001
|
NM_001005242.3(PKP2):c.1939G>A (p.Ala647Thr)
|
rs759920696
|
0.00001
|
NM_001005242.3(PKP2):c.2317G>A (p.Gly773Arg)
|
rs766775778
|
0.00001
|
NM_001005242.3(PKP2):c.2428C>T (p.His810Tyr)
|
rs397517023
|
0.00001
|
NM_001005242.3(PKP2):c.484A>G (p.Thr162Ala)
|
rs765195368
|
0.00001
|
NM_001005242.3(PKP2):c.533dup (p.His179fs)
|
rs769220833
|
0.00001
|
NM_001005242.3(PKP2):c.536A>G (p.His179Arg)
|
rs1371222715
|
0.00001
|
NM_001005242.3(PKP2):c.554G>A (p.Arg185Gln)
|
rs765477952
|
0.00001
|
NM_001005242.3(PKP2):c.688G>A (p.Val230Ile)
|
rs543281875
|
0.00001
|
NM_001005242.3(PKP2):c.713C>T (p.Pro238Leu)
|
rs560220280
|
0.00001
|
NM_001005242.3(PKP2):c.784C>A (p.Leu262Met)
|
rs199701968
|
0.00001
|
NM_001018005.2(TPM1):c.-7C>A
|
rs370871307
|
0.00001
|
NM_001018005.2(TPM1):c.114+3C>T
|
rs112677344
|
0.00001
|
NM_001018005.2(TPM1):c.115-5C>G
|
rs753196985
|
0.00001
|
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter)
|
rs104894501
|
0.00001
|
NM_001018005.2(TPM1):c.272G>A (p.Arg91His)
|
rs1477561695
|
0.00001
|
NM_001018005.2(TPM1):c.314G>A (p.Arg105His)
|
rs773149185
|
0.00001
|
NM_001018005.2(TPM1):c.511A>G (p.Ile171Val)
|
rs774903903
|
0.00001
|
NM_001018005.2(TPM1):c.563+6C>T
|
rs397516378
|
0.00001
|
NM_001018005.2(TPM1):c.630G>T (p.Gln210His)
|
rs761816813
|
0.00001
|
NM_001018005.2(TPM1):c.852-5C>T
|
rs766724527
|
0.00001
|
NM_001018005.2(TPM1):c.93G>C (p.Ala31=)
|
rs770661916
|
0.00001
|
NM_001035.3(RYR2):c.10096C>T (p.Leu3366Phe)
|
rs377712921
|
0.00001
|
NM_001035.3(RYR2):c.10361G>A (p.Arg3454His)
|
rs1229045575
|
0.00001
|
NM_001035.3(RYR2):c.1043G>A (p.Gly348Asp)
|
rs747138259
|
0.00001
|
NM_001035.3(RYR2):c.10529G>T (p.Arg3510Leu)
|
rs375947003
|
0.00001
|
NM_001035.3(RYR2):c.10612A>C (p.Thr3538Pro)
|
rs894881755
|
0.00001
|
NM_001035.3(RYR2):c.10970G>A (p.Gly3657Asp)
|
rs876661020
|
0.00001
|
NM_001035.3(RYR2):c.10973C>G (p.Thr3658Ser)
|
rs766499417
|
0.00001
|
NM_001035.3(RYR2):c.1115T>A (p.Leu372His)
|
rs763658621
|
0.00001
|
NM_001035.3(RYR2):c.11428C>T (p.Arg3810Ter)
|
rs1446308525
|
0.00001
|
NM_001035.3(RYR2):c.1163A>G (p.Gln388Arg)
|
rs397516506
|
0.00001
|
NM_001035.3(RYR2):c.11672A>T (p.Tyr3891Phe)
|
rs1430332496
|
0.00001
|
NM_001035.3(RYR2):c.11968G>A (p.Val3990Ile)
|
rs1210103464
|
0.00001
|
NM_001035.3(RYR2):c.12192A>C (p.Glu4064Asp)
|
rs1172947190
|
0.00001
|
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)
|
rs190140598
|
0.00001
|
NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly)
|
rs1178157004
|
0.00001
|
NM_001035.3(RYR2):c.12770G>A (p.Arg4257Gln)
|
rs371396204
|
0.00001
|
NM_001035.3(RYR2):c.12920G>A (p.Arg4307His)
|
rs769146715
|
0.00001
|
NM_001035.3(RYR2):c.13061T>G (p.Leu4354Arg)
|
rs1361307283
|
0.00001
|
NM_001035.3(RYR2):c.1320G>A (p.Ala440=)
|
rs887478410
|
0.00001
|
NM_001035.3(RYR2):c.13370A>G (p.Lys4457Arg)
|
rs747584325
|
0.00001
|
NM_001035.3(RYR2):c.1345A>G (p.Ile449Val)
|
rs775428443
|
0.00001
|
NM_001035.3(RYR2):c.13615A>C (p.Ser4539Arg)
|
rs778498741
|
0.00001
|
NM_001035.3(RYR2):c.13734G>A (p.Leu4578=)
|
rs1268914442
|
0.00001
|
NM_001035.3(RYR2):c.1392C>A (p.His464Gln)
|
rs749032742
|
0.00001
|
NM_001035.3(RYR2):c.14151C>T (p.Asn4717=)
|
rs1479892874
|
0.00001
|
NM_001035.3(RYR2):c.1423A>C (p.Lys475Gln)
|
rs765389300
|
0.00001
|
NM_001035.3(RYR2):c.14422G>A (p.Asp4808Asn)
|
rs777414943
|
0.00001
|
NM_001035.3(RYR2):c.1864G>A (p.Gly622Arg)
|
rs376243998
|
0.00001
|
NM_001035.3(RYR2):c.2320C>A (p.Pro774Thr)
|
rs780965490
|
0.00001
|
NM_001035.3(RYR2):c.2416G>C (p.Gly806Arg)
|
rs1227019047
|
0.00001
|
NM_001035.3(RYR2):c.2444C>T (p.Pro815Leu)
|
rs537596448
|
0.00001
|
NM_001035.3(RYR2):c.2786G>A (p.Arg929His)
|
rs876657988
|
0.00001
|
NM_001035.3(RYR2):c.3026G>A (p.Arg1009Gln)
|
rs754812132
|
0.00001
|
NM_001035.3(RYR2):c.3089C>T (p.Pro1030Leu)
|
rs1404965456
|
0.00001
|
NM_001035.3(RYR2):c.3167C>T (p.Thr1056Met)
|
rs779146564
|
0.00001
|
NM_001035.3(RYR2):c.3244G>A (p.Gly1082Arg)
|
rs774797663
|
0.00001
|
NM_001035.3(RYR2):c.3400G>T (p.Ala1134Ser)
|
rs886046265
|
0.00001
|
NM_001035.3(RYR2):c.3767C>T (p.Pro1256Leu)
|
rs773915323
|
0.00001
|
NM_001035.3(RYR2):c.3950C>T (p.Thr1317Met)
|
rs752107643
|
0.00001
|
NM_001035.3(RYR2):c.4274C>T (p.Thr1425Met)
|
rs761181641
|
0.00001
|
NM_001035.3(RYR2):c.4294A>C (p.Ile1432Leu)
|
rs769163639
|
0.00001
|
NM_001035.3(RYR2):c.4387C>T (p.Arg1463Cys)
|
rs764144130
|
0.00001
|
NM_001035.3(RYR2):c.4457A>G (p.Tyr1486Cys)
|
rs1353376223
|
0.00001
|
NM_001035.3(RYR2):c.5261G>C (p.Ser1754Thr)
|
rs397516542
|
0.00001
|
NM_001035.3(RYR2):c.5542C>T (p.Pro1848Ser)
|
rs760731968
|
0.00001
|
NM_001035.3(RYR2):c.5664G>C (p.Arg1888=)
|
rs758277755
|
0.00001
|
NM_001035.3(RYR2):c.5824T>C (p.Phe1942Leu)
|
rs368669045
|
0.00001
|
NM_001035.3(RYR2):c.5978G>A (p.Arg1993His)
|
rs551362343
|
0.00001
|
NM_001035.3(RYR2):c.6233C>T (p.Pro2078Leu)
|
rs1158268722
|
0.00001
|
NM_001035.3(RYR2):c.625C>G (p.Gln209Glu)
|
rs749414350
|
0.00001
|
NM_001035.3(RYR2):c.6265C>T (p.His2089Tyr)
|
rs1057524513
|
0.00001
|
NM_001035.3(RYR2):c.6849G>C (p.Lys2283Asn)
|
rs1558114884
|
0.00001
|
NM_001035.3(RYR2):c.7570G>A (p.Val2524Ile)
|
rs934248102
|
0.00001
|
NM_001035.3(RYR2):c.7750A>G (p.Met2584Val)
|
rs772541555
|
0.00001
|
NM_001035.3(RYR2):c.7940G>A (p.Gly2647Asp)
|
rs776908944
|
0.00001
|
NM_001035.3(RYR2):c.808C>T (p.His270Tyr)
|
rs745558219
|
0.00001
|
NM_001035.3(RYR2):c.9626C>T (p.Pro3209Leu)
|
rs956317332
|
0.00001
|
NM_001035.3(RYR2):c.9686C>T (p.Thr3229Ile)
|
rs1688441480
|
0.00001
|
NM_001035.3(RYR2):c.9692T>C (p.Met3231Thr)
|
rs1472732790
|
0.00001
|
NM_001035.3(RYR2):c.9703A>G (p.Met3235Val)
|
rs773957909
|
0.00001
|
NM_001035.3(RYR2):c.9742C>T (p.Arg3248Cys)
|
rs1290534109
|
0.00001
|
NM_001035.3(RYR2):c.9911A>G (p.Gln3304Arg)
|
rs794728766
|
0.00001
|
NM_001035.3(RYR2):c.995G>A (p.Arg332Gln)
|
rs1558793119
|
0.00001
|
NM_001042475.3(CEP85L):c.1020+17181A>T
|
rs779232815
|
0.00001
|
NM_001042475.3(CEP85L):c.1020+17347A>G
|
rs1230141633
|
0.00001
|
NM_001079802.2(FKTN):c.*5003T>G
|
rs886063340
|
0.00001
|
NM_001079802.2(FKTN):c.*5161C>T
|
rs886063341
|
0.00001
|
NM_001079802.2(FKTN):c.1181T>C (p.Phe394Ser)
|
rs727502849
|
0.00001
|
NM_001079802.2(FKTN):c.1283A>G (p.Lys428Arg)
|
rs1833937117
|
0.00001
|
NM_001079802.2(FKTN):c.1299G>A (p.Thr433=)
|
rs912930168
|
0.00001
|
NM_001079802.2(FKTN):c.1311G>A (p.Lys437=)
|
rs904253784
|
0.00001
|
NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs)
|
rs775366895
|
0.00001
|
NM_001079802.2(FKTN):c.526T>G (p.Phe176Val)
|
rs746813994
|
0.00001
|
NM_001079802.2(FKTN):c.559G>A (p.Gly187Ser)
|
rs1187674499
|
0.00001
|
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter)
|
rs746763506
|
0.00001
|
NM_001079802.2(FKTN):c.7A>G (p.Arg3Gly)
|
rs1037406947
|
0.00001
|
NM_001079802.2(FKTN):c.802G>T (p.Val268Leu)
|
rs878854165
|
0.00001
|
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp)
|
rs558187116
|
0.00001
|
NM_001103.4(ACTN2):c.1058G>A (p.Arg353Gln)
|
rs780552939
|
0.00001
|
NM_001103.4(ACTN2):c.1090G>A (p.Glu364Lys)
|
rs572523462
|
0.00001
|
NM_001103.4(ACTN2):c.1305A>G (p.Thr435=)
|
rs12043223
|
0.00001
|
NM_001103.4(ACTN2):c.136G>T (p.Ala46Ser)
|
rs1311487466
|
0.00001
|
NM_001103.4(ACTN2):c.1384G>T (p.Ala462Ser)
|
rs376923220
|
0.00001
|
NM_001103.4(ACTN2):c.1715G>A (p.Arg572Gln)
|
rs141434302
|
0.00001
|
NM_001103.4(ACTN2):c.1823G>A (p.Arg608Gln)
|
rs529944004
|
0.00001
|
NM_001103.4(ACTN2):c.1857C>A (p.Pro619=)
|
rs1659474774
|
0.00001
|
NM_001103.4(ACTN2):c.2054T>C (p.Ile685Thr)
|
rs1057523250
|
0.00001
|
NM_001103.4(ACTN2):c.2413G>A (p.Gly805Arg)
|
rs769239899
|
0.00001
|
NM_001103.4(ACTN2):c.2475C>T (p.Thr825=)
|
rs758805815
|
0.00001
|
NM_001103.4(ACTN2):c.2573A>C (p.Gln858Pro)
|
rs769940120
|
0.00001
|
NM_001103.4(ACTN2):c.2596A>T (p.Met866Leu)
|
rs1395445136
|
0.00001
|
NM_001103.4(ACTN2):c.2629G>T (p.Gly877Cys)
|
rs754834889
|
0.00001
|
NM_001103.4(ACTN2):c.2632G>A (p.Ala878Thr)
|
rs1270659015
|
0.00001
|
NM_001103.4(ACTN2):c.2648C>T (p.Ala883Val)
|
rs769564893
|
0.00001
|
NM_001103.4(ACTN2):c.698-1179G>A
|
rs1317190224
|
0.00001
|
NM_001103.4(ACTN2):c.776C>T (p.Ala259Val)
|
rs566552494
|
0.00001
|
NM_001103.4(ACTN2):c.896G>A (p.Arg299His)
|
rs746677039
|
0.00001
|
NM_001103.4(ACTN2):c.982C>T (p.Arg328Trp)
|
rs770855273
|
0.00001
|
NM_001105206.3(LAMA4):c.133del (p.Gln45fs)
|
rs1341828711
|
0.00001
|
NM_001105206.3(LAMA4):c.1364G>T (p.Ser455Ile)
|
rs782547342
|
0.00001
|
NM_001105206.3(LAMA4):c.1436A>T (p.Asp479Val)
|
rs781939403
|
0.00001
|
NM_001105206.3(LAMA4):c.1455G>T (p.Leu485Phe)
|
rs782305599
|
0.00001
|
NM_001105206.3(LAMA4):c.1525A>C (p.Thr509Pro)
|
rs951225457
|
0.00001
|
NM_001105206.3(LAMA4):c.153C>A (p.Ser51Arg)
|
rs782192817
|
0.00001
|
NM_001105206.3(LAMA4):c.1582G>A (p.Glu528Lys)
|
rs782385471
|
0.00001
|
NM_001105206.3(LAMA4):c.1778A>G (p.His593Arg)
|
rs751004946
|
0.00001
|
NM_001105206.3(LAMA4):c.1867G>A (p.Ala623Thr)
|
rs782574915
|
0.00001
|
NM_001105206.3(LAMA4):c.203A>G (p.Asn68Ser)
|
rs782428669
|
0.00001
|
NM_001105206.3(LAMA4):c.2305T>C (p.Phe769Leu)
|
rs1554334959
|
0.00001
|
NM_001105206.3(LAMA4):c.2527G>C (p.Ala843Pro)
|
rs536755553
|
0.00001
|
NM_001105206.3(LAMA4):c.267C>T (p.Asn89=)
|
rs727503114
|
0.00001
|
NM_001105206.3(LAMA4):c.3109C>T (p.Arg1037Ter)
|
rs782727584
|
0.00001
|
NM_001105206.3(LAMA4):c.3311A>G (p.Asn1104Ser)
|
rs542157463
|
0.00001
|
NM_001105206.3(LAMA4):c.4008G>C (p.Lys1336Asn)
|
rs373047072
|
0.00001
|
NM_001105206.3(LAMA4):c.4052A>G (p.Lys1351Arg)
|
rs876657843
|
0.00001
|
NM_001105206.3(LAMA4):c.4059T>A (p.Phe1353Leu)
|
rs782273793
|
0.00001
|
NM_001105206.3(LAMA4):c.4328C>T (p.Ala1443Val)
|
rs782696599
|
0.00001
|
NM_001105206.3(LAMA4):c.4505G>A (p.Arg1502His)
|
rs781976795
|
0.00001
|
NM_001105206.3(LAMA4):c.4607G>T (p.Gly1536Val)
|
rs368316926
|
0.00001
|
NM_001105206.3(LAMA4):c.4977T>C (p.Val1659=)
|
rs199593652
|
0.00001
|
NM_001105206.3(LAMA4):c.5062G>A (p.Gly1688Ser)
|
rs782194407
|
0.00001
|
NM_001105206.3(LAMA4):c.5206+1G>A
|
rs368035482
|
0.00001
|
NM_001105206.3(LAMA4):c.676C>T (p.Pro226Ser)
|
rs201820268
|
0.00001
|
NM_001105206.3(LAMA4):c.757G>A (p.Gly253Arg)
|
rs377633183
|
0.00001
|
NM_001105206.3(LAMA4):c.913G>A (p.Ala305Thr)
|
rs782325733
|
0.00001
|
NM_001105206.3(LAMA4):c.944A>G (p.Asn315Ser)
|
rs1029188462
|
0.00001
|
NM_001122630.2(CDKN1C):c.-8C>T
|
rs1300493378
|
0.00001
|
NM_001122630.2(CDKN1C):c.291C>T (p.Pro97=)
|
rs534471786
|
0.00001
|
NM_001122630.2(CDKN1C):c.354C>T (p.Leu118=)
|
rs1426804435
|
0.00001
|
NM_001122630.2(CDKN1C):c.453G>A (p.Pro151=)
|
rs1262607893
|
0.00001
|
NM_001122630.2(CDKN1C):c.457C>G (p.Pro153Ala)
|
rs1323691763
|
0.00001
|
NM_001122630.2(CDKN1C):c.465G>A (p.Ala155=)
|
rs1361624164
|
0.00001
|
NM_001122630.2(CDKN1C):c.564C>T (p.Ala188=)
|
rs1554937891
|
0.00001
|
NM_001122630.2(CDKN1C):c.737C>G (p.Ala246Gly)
|
rs878853642
|
0.00001
|
NM_001122630.2(CDKN1C):c.742G>T (p.Ala248Ser)
|
rs773881541
|
0.00001
|
NM_001122630.2(CDKN1C):c.751G>A (p.Ala251Thr)
|
rs1300586071
|
0.00001
|
NM_001122630.2(CDKN1C):c.97C>T (p.Arg33Cys)
|
rs956525226
|
0.00001
|
NM_001134363.3(RBM20):c.1059G>A (p.Glu353=)
|
rs749130573
|
0.00001
|
NM_001134363.3(RBM20):c.1100G>A (p.Arg367Gln)
|
rs878854247
|
0.00001
|
NM_001134363.3(RBM20):c.1159G>A (p.Ala387Thr)
|
rs886046703
|
0.00001
|
NM_001134363.3(RBM20):c.116G>A (p.Arg39Gln)
|
rs780367353
|
0.00001
|
NM_001134363.3(RBM20):c.1259A>G (p.Lys420Arg)
|
rs727505308
|
0.00001
|
NM_001134363.3(RBM20):c.1276-8T>A
|
rs886046704
|
0.00001
|
NM_001134363.3(RBM20):c.1329_1331del (p.Ser444del)
|
rs1229525146
|
0.00001
|
NM_001134363.3(RBM20):c.1494C>A (p.Ser498Arg)
|
rs774916799
|
0.00001
|
NM_001134363.3(RBM20):c.16G>A (p.Ala6Thr)
|
rs758772050
|
0.00001
|
NM_001134363.3(RBM20):c.1868G>A (p.Arg623Gln)
|
rs1366402693
|
0.00001
|
NM_001134363.3(RBM20):c.1881-1G>C
|
rs1424661837
|
0.00001
|
NM_001134363.3(RBM20):c.1896G>C (p.Arg632Ser)
|
rs767451635
|
0.00001
|
NM_001134363.3(RBM20):c.1898C>T (p.Pro633Leu)
|
rs747880281
|
0.00001
|
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)
|
rs267607004
|
0.00001
|
NM_001134363.3(RBM20):c.1921C>T (p.Arg641Trp)
|
rs772991270
|
0.00001
|
NM_001134363.3(RBM20):c.1962C>T (p.Ser654=)
|
rs1060504913
|
0.00001
|
NM_001134363.3(RBM20):c.1990C>T (p.Pro664Ser)
|
rs1279998131
|
0.00001
|
NM_001134363.3(RBM20):c.2060A>G (p.Glu687Gly)
|
rs1051836531
|
0.00001
|
NM_001134363.3(RBM20):c.2100G>C (p.Lys700Asn)
|
rs957430941
|
0.00001
|
NM_001134363.3(RBM20):c.2149C>A (p.Gln717Lys)
|
rs551819918
|
0.00001
|
NM_001134363.3(RBM20):c.2183A>G (p.Glu728Gly)
|
rs1161452943
|
0.00001
|
NM_001134363.3(RBM20):c.2234T>C (p.Leu745Pro)
|
rs1361123068
|
0.00001
|
NM_001134363.3(RBM20):c.2276A>G (p.Tyr759Cys)
|
rs1463526980
|
0.00001
|
NM_001134363.3(RBM20):c.3154G>A (p.Ala1052Thr)
|
rs890053031
|
0.00001
|
NM_001134363.3(RBM20):c.321G>C (p.Gln107His)
|
rs1413181007
|
0.00001
|
NM_001134363.3(RBM20):c.3571C>A (p.Gln1191Lys)
|
rs1338307495
|
0.00001
|
NM_001134363.3(RBM20):c.359del (p.Leu120fs)
|
rs1173576141
|
0.00001
|
NM_001134363.3(RBM20):c.434G>A (p.Gly145Asp)
|
rs1060503413
|
0.00001
|
NM_001134363.3(RBM20):c.676G>A (p.Ala226Thr)
|
rs1033220280
|
0.00001
|
NM_001134363.3(RBM20):c.686A>G (p.Tyr229Cys)
|
rs1478721868
|
0.00001
|
NM_001134363.3(RBM20):c.776G>T (p.Gly259Val)
|
rs940901720
|
0.00001
|
NM_001159699.2(FHL1):c.189C>T (p.Ile63=)
|
rs1424503926
|
0.00001
|
NM_001159699.2(FHL1):c.302A>G (p.Asn101Ser)
|
rs774919566
|
0.00001
|
NM_001159699.2(FHL1):c.303C>G (p.Asn101Lys)
|
rs762126486
|
0.00001
|
NM_001159699.2(FHL1):c.480A>C (p.Lys160Asn)
|
rs1157004659
|
0.00001
|
NM_001159699.2(FHL1):c.836G>A (p.Arg279His)
|
rs377071251
|
0.00001
|
NM_001232.4(CASQ2):c.1006G>A (p.Val336Ile)
|
rs886045160
|
0.00001
|
NM_001232.4(CASQ2):c.1081T>A (p.Trp361Arg)
|
rs375811174
|
0.00001
|
NM_001232.4(CASQ2):c.409T>C (p.Phe137Leu)
|
rs762328417
|
0.00001
|
NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr)
|
rs151201435
|
0.00001
|
NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile)
|
rs786205790
|
0.00001
|
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter)
|
rs758748280
|
0.00001
|
NM_001232.4(CASQ2):c.615G>T (p.Lys205Asn)
|
rs758082383
|
0.00001
|
NM_001232.4(CASQ2):c.793T>G (p.Leu265Val)
|
rs772419873
|
0.00001
|
NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys)
|
rs1230753325
|
0.00001
|
NM_001232.4(CASQ2):c.877C>T (p.Arg293Trp)
|
rs201306936
|
0.00001
|
NM_001232.4(CASQ2):c.939+1G>T
|
rs905985075
|
0.00001
|
NM_001232.4(CASQ2):c.971T>C (p.Ile324Thr)
|
rs369403991
|
0.00001
|
NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln)
|
rs749547712
|
0.00001
|
NM_001267550.2(TTN):c.-217G>A
|
rs886055311
|
0.00001
|
NM_001267550.2(TTN):c.100373T>C (p.Ile33458Thr)
|
rs72648283
|
0.00001
|
NM_001267550.2(TTN):c.100429G>C (p.Glu33477Gln)
|
rs794729556
|
0.00001
|
NM_001267550.2(TTN):c.100587G>A (p.Trp33529Ter)
|
rs1064793560
|
0.00001
|
NM_001267550.2(TTN):c.10070C>T (p.Ser3357Phe)
|
rs886042377
|
0.00001
|
NM_001267550.2(TTN):c.100886G>A (p.Trp33629Ter)
|
rs1260821931
|
0.00001
|
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter)
|
rs766265889
|
0.00001
|
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter)
|
rs794729305
|
0.00001
|
NM_001267550.2(TTN):c.101380G>A (p.Glu33794Lys)
|
rs1484936368
|
0.00001
|
NM_001267550.2(TTN):c.101529G>C (p.Lys33843Asn)
|
rs377406091
|
0.00001
|
NM_001267550.2(TTN):c.101573T>A (p.Val33858Asp)
|
rs1172459056
|
0.00001
|
NM_001267550.2(TTN):c.101875G>A (p.Glu33959Lys)
|
rs886055224
|
0.00001
|
NM_001267550.2(TTN):c.102842T>C (p.Ile34281Thr)
|
rs779369864
|
0.00001
|
NM_001267550.2(TTN):c.102928G>A (p.Glu34310Lys)
|
rs768930172
|
0.00001
|
NM_001267550.2(TTN):c.102992A>G (p.Tyr34331Cys)
|
rs765213170
|
0.00001
|
NM_001267550.2(TTN):c.103177A>C (p.Thr34393Pro)
|
rs947426325
|
0.00001
|
NM_001267550.2(TTN):c.103216G>A (p.Gly34406Arg)
|
rs371753532
|
0.00001
|
NM_001267550.2(TTN):c.103432G>A (p.Asp34478Asn)
|
rs878913368
|
0.00001
|
NM_001267550.2(TTN):c.103730A>G (p.Gln34577Arg)
|
rs727505009
|
0.00001
|
NM_001267550.2(TTN):c.103787G>A (p.Arg34596His)
|
rs762235688
|
0.00001
|
NM_001267550.2(TTN):c.104005G>A (p.Asp34669Asn)
|
rs1430662349
|
0.00001
|
NM_001267550.2(TTN):c.104062G>C (p.Glu34688Gln)
|
rs775049806
|
0.00001
|
NM_001267550.2(TTN):c.104158G>A (p.Glu34720Lys)
|
rs773467994
|
0.00001
|
NM_001267550.2(TTN):c.104194C>G (p.His34732Asp)
|
rs753769495
|
0.00001
|
NM_001267550.2(TTN):c.104267G>C (p.Arg34756Thr)
|
rs1344770836
|
0.00001
|
NM_001267550.2(TTN):c.104582G>A (p.Arg34861His)
|
rs777774818
|
0.00001
|
NM_001267550.2(TTN):c.104933A>G (p.Asn34978Ser)
|
rs780028847
|
0.00001
|
NM_001267550.2(TTN):c.105038G>A (p.Arg35013His)
|
rs779484675
|
0.00001
|
NM_001267550.2(TTN):c.105083C>T (p.Thr35028Met)
|
rs56001826
|
0.00001
|
NM_001267550.2(TTN):c.105086T>G (p.Leu35029Trp)
|
rs763437247
|
0.00001
|
NM_001267550.2(TTN):c.105643A>C (p.Thr35215Pro)
|
rs769195414
|
0.00001
|
NM_001267550.2(TTN):c.105802G>A (p.Glu35268Lys)
|
rs1010179080
|
0.00001
|
NM_001267550.2(TTN):c.106154A>C (p.Lys35385Thr)
|
rs768296130
|
0.00001
|
NM_001267550.2(TTN):c.106258C>T (p.Pro35420Ser)
|
rs567191587
|
0.00001
|
NM_001267550.2(TTN):c.106403T>A (p.Leu35468His)
|
rs952475900
|
0.00001
|
NM_001267550.2(TTN):c.106769A>G (p.His35590Arg)
|
rs375572802
|
0.00001
|
NM_001267550.2(TTN):c.106906G>A (p.Val35636Met)
|
rs751243461
|
0.00001
|
NM_001267550.2(TTN):c.107528T>C (p.Met35843Thr)
|
rs760758096
|
0.00001
|
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter)
|
rs1009131948
|
0.00001
|
NM_001267550.2(TTN):c.107723T>C (p.Ile35908Thr)
|
rs769141222
|
0.00001
|
NM_001267550.2(TTN):c.107783T>A (p.Val35928Glu)
|
rs763109620
|
0.00001
|
NM_001267550.2(TTN):c.107858T>G (p.Leu35953Arg)
|
rs794729572
|
0.00001
|
NM_001267550.2(TTN):c.11027C>T (p.Thr3676Met)
|
rs1437975298
|
0.00001
|
NM_001267550.2(TTN):c.11085C>T (p.His3695=)
|
rs774236128
|
0.00001
|
NM_001267550.2(TTN):c.11282T>C (p.Ile3761Thr)
|
rs758073208
|
0.00001
|
NM_001267550.2(TTN):c.1165A>G (p.Ser389Gly)
|
rs1255499093
|
0.00001
|
NM_001267550.2(TTN):c.11684G>A (p.Ser3895Asn)
|
rs769466475
|
0.00001
|
NM_001267550.2(TTN):c.11984C>T (p.Thr3995Ile)
|
rs749320093
|
0.00001
|
NM_001267550.2(TTN):c.12175G>T (p.Gly4059Cys)
|
rs377114166
|
0.00001
|
NM_001267550.2(TTN):c.12416A>G (p.His4139Arg)
|
rs72648920
|
0.00001
|
NM_001267550.2(TTN):c.12572T>C (p.Ile4191Thr)
|
rs371669309
|
0.00001
|
NM_001267550.2(TTN):c.1307C>T (p.Ala436Val)
|
rs781488193
|
0.00001
|
NM_001267550.2(TTN):c.13205C>T (p.Ala4402Val)
|
rs756976503
|
0.00001
|
NM_001267550.2(TTN):c.13724A>G (p.Glu4575Gly)
|
rs564287456
|
0.00001
|
NM_001267550.2(TTN):c.13883C>T (p.Ser4628Phe)
|
rs794729602
|
0.00001
|
NM_001267550.2(TTN):c.13940A>G (p.Asp4647Gly)
|
rs781348816
|
0.00001
|
NM_001267550.2(TTN):c.14018G>A (p.Gly4673Glu)
|
rs374361492
|
0.00001
|
NM_001267550.2(TTN):c.14092+5G>A
|
rs757575983
|
0.00001
|
NM_001267550.2(TTN):c.14782C>T (p.Leu4928Phe)
|
rs758924238
|
0.00001
|
NM_001267550.2(TTN):c.1537-2A>G
|
rs749182164
|
0.00001
|
NM_001267550.2(TTN):c.15877A>C (p.Lys5293Gln)
|
rs930814645
|
0.00001
|
NM_001267550.2(TTN):c.15981C>T (p.Asp5327=)
|
rs1278975928
|
0.00001
|
NM_001267550.2(TTN):c.17375T>C (p.Ile5792Thr)
|
rs1225094303
|
0.00001
|
NM_001267550.2(TTN):c.17376T>G (p.Ile5792Met)
|
rs1041967765
|
0.00001
|
NM_001267550.2(TTN):c.17645T>C (p.Ile5882Thr)
|
rs763665430
|
0.00001
|
NM_001267550.2(TTN):c.17669G>C (p.Ser5890Thr)
|
rs775293848
|
0.00001
|
NM_001267550.2(TTN):c.17733T>C (p.Asn5911=)
|
rs912253842
|
0.00001
|
NM_001267550.2(TTN):c.17807T>C (p.Ile5936Thr)
|
rs1365679296
|
0.00001
|
NM_001267550.2(TTN):c.17C>T (p.Pro6Leu)
|
rs201490999
|
0.00001
|
NM_001267550.2(TTN):c.18150A>G (p.Lys6050=)
|
rs991259759
|
0.00001
|
NM_001267550.2(TTN):c.18589G>C (p.Glu6197Gln)
|
rs753281535
|
0.00001
|
NM_001267550.2(TTN):c.19426+7A>G
|
rs756760290
|
0.00001
|
NM_001267550.2(TTN):c.19715-3T>C
|
rs2079629592
|
0.00001
|
NM_001267550.2(TTN):c.19970G>T (p.Cys6657Phe)
|
rs776748717
|
0.00001
|
NM_001267550.2(TTN):c.202C>T (p.Pro68Ser)
|
rs876658046
|
0.00001
|
NM_001267550.2(TTN):c.20395C>T (p.Arg6799Trp)
|
rs751534449
|
0.00001
|
NM_001267550.2(TTN):c.20579T>C (p.Leu6860Pro)
|
rs767944090
|
0.00001
|
NM_001267550.2(TTN):c.20869A>T (p.Met6957Leu)
|
rs375262781
|
0.00001
|
NM_001267550.2(TTN):c.20873C>T (p.Thr6958Met)
|
rs371824963
|
0.00001
|
NM_001267550.2(TTN):c.20891C>T (p.Thr6964Met)
|
rs765257439
|
0.00001
|
NM_001267550.2(TTN):c.20986T>C (p.Phe6996Leu)
|
rs753725329
|
0.00001
|
NM_001267550.2(TTN):c.21118C>T (p.Arg7040Ter)
|
rs576359448
|
0.00001
|
NM_001267550.2(TTN):c.21143G>A (p.Arg7048Gln)
|
rs148072021
|
0.00001
|
NM_001267550.2(TTN):c.21172G>C (p.Gly7058Arg)
|
rs786205401
|
0.00001
|
NM_001267550.2(TTN):c.21227C>T (p.Ala7076Val)
|
rs374625641
|
0.00001
|
NM_001267550.2(TTN):c.21667C>T (p.Arg7223Cys)
|
rs1156609638
|
0.00001
|
NM_001267550.2(TTN):c.21892G>A (p.Gly7298Arg)
|
rs878854292
|
0.00001
|
NM_001267550.2(TTN):c.22339C>T (p.Pro7447Ser)
|
rs749750693
|
0.00001
|
NM_001267550.2(TTN):c.2254C>T (p.Arg752Cys)
|
rs200677631
|
0.00001
|
NM_001267550.2(TTN):c.22633C>T (p.Arg7545Ter)
|
rs764687326
|
0.00001
|
NM_001267550.2(TTN):c.2275G>A (p.Val759Ile)
|
rs769333723
|
0.00001
|
NM_001267550.2(TTN):c.23567G>A (p.Gly7856Glu)
|
rs919783694
|
0.00001
|
NM_001267550.2(TTN):c.23686G>A (p.Glu7896Lys)
|
rs786205400
|
0.00001
|
NM_001267550.2(TTN):c.2371-1G>A
|
rs755365744
|
0.00001
|
NM_001267550.2(TTN):c.23747C>G (p.Pro7916Arg)
|
rs764130233
|
0.00001
|
NM_001267550.2(TTN):c.24013G>C (p.Glu8005Gln)
|
rs757042397
|
0.00001
|
NM_001267550.2(TTN):c.24038C>T (p.Pro8013Leu)
|
rs773761640
|
0.00001
|
NM_001267550.2(TTN):c.24207A>G (p.Ser8069=)
|
rs370099448
|
0.00001
|
NM_001267550.2(TTN):c.24322A>G (p.Lys8108Glu)
|
rs776437978
|
0.00001
|
NM_001267550.2(TTN):c.24453C>T (p.Leu8151=)
|
rs772386098
|
0.00001
|
NM_001267550.2(TTN):c.24839C>T (p.Pro8280Leu)
|
rs375219172
|
0.00001
|
NM_001267550.2(TTN):c.24914G>A (p.Arg8305Gln)
|
rs759985618
|
0.00001
|
NM_001267550.2(TTN):c.2535G>T (p.Glu845Asp)
|
rs768608500
|
0.00001
|
NM_001267550.2(TTN):c.25453A>G (p.Ile8485Val)
|
rs1560628327
|
0.00001
|
NM_001267550.2(TTN):c.26200+5G>A
|
rs727503645
|
0.00001
|
NM_001267550.2(TTN):c.26830G>A (p.Val8944Ile)
|
rs72648993
|
0.00001
|
NM_001267550.2(TTN):c.26882A>G (p.His8961Arg)
|
rs766862084
|
0.00001
|
NM_001267550.2(TTN):c.27074C>T (p.Pro9025Leu)
|
rs1203714029
|
0.00001
|
NM_001267550.2(TTN):c.27619T>G (p.Phe9207Val)
|
rs765453217
|
0.00001
|
NM_001267550.2(TTN):c.27743C>A (p.Thr9248Asn)
|
rs397517523
|
0.00001
|
NM_001267550.2(TTN):c.27746C>T (p.Thr9249Met)
|
rs745792278
|
0.00001
|
NM_001267550.2(TTN):c.27994G>A (p.Val9332Met)
|
rs367734747
|
0.00001
|
NM_001267550.2(TTN):c.28321G>A (p.Gly9441Arg)
|
rs397517529
|
0.00001
|
NM_001267550.2(TTN):c.28877C>A (p.Ala9626Asp)
|
rs397517530
|
0.00001
|
NM_001267550.2(TTN):c.29333G>A (p.Gly9778Asp)
|
rs775854531
|
0.00001
|
NM_001267550.2(TTN):c.295+5G>A
|
rs56310717
|
0.00001
|
NM_001267550.2(TTN):c.29519G>A (p.Arg9840His)
|
rs558220856
|
0.00001
|
NM_001267550.2(TTN):c.29931A>C (p.Pro9977=)
|
rs781508217
|
0.00001
|
NM_001267550.2(TTN):c.30196G>C (p.Glu10066Gln)
|
rs370072382
|
0.00001
|
NM_001267550.2(TTN):c.3027C>A (p.Asp1009Glu)
|
rs794729523
|
0.00001
|
NM_001267550.2(TTN):c.30414T>C (p.Asn10138=)
|
rs878990074
|
0.00001
|
NM_001267550.2(TTN):c.30511+1G>C
|
rs879082842
|
0.00001
|
NM_001267550.2(TTN):c.30893C>T (p.Ala10298Val)
|
rs727504902
|
0.00001
|
NM_001267550.2(TTN):c.30927G>A (p.Glu10309=)
|
rs1015963344
|
0.00001
|
NM_001267550.2(TTN):c.31010A>G (p.Tyr10337Cys)
|
rs886055287
|
0.00001
|
NM_001267550.2(TTN):c.3205C>G (p.Leu1069Val)
|
rs759873829
|
0.00001
|
NM_001267550.2(TTN):c.32090C>T (p.Pro10697Leu)
|
rs573756163
|
0.00001
|
NM_001267550.2(TTN):c.32392G>A (p.Val10798Met)
|
rs764015733
|
0.00001
|
NM_001267550.2(TTN):c.32470G>T (p.Val10824Phe)
|
rs753951400
|
0.00001
|
NM_001267550.2(TTN):c.32471-1G>A
|
rs371725574
|
0.00001
|
NM_001267550.2(TTN):c.32858C>T (p.Ala10953Val)
|
rs773225325
|
0.00001
|
NM_001267550.2(TTN):c.32936A>C (p.Glu10979Ala)
|
rs776641064
|
0.00001
|
NM_001267550.2(TTN):c.32974T>C (p.Tyr10992His)
|
rs769393540
|
0.00001
|
NM_001267550.2(TTN):c.33418+1G>A
|
rs746588865
|
0.00001
|
NM_001267550.2(TTN):c.33419-2A>C
|
rs756841034
|
0.00001
|
NM_001267550.2(TTN):c.33791C>T (p.Pro11264Leu)
|
rs1336824666
|
0.00001
|
NM_001267550.2(TTN):c.33890T>A (p.Val11297Glu)
|
rs768802752
|
0.00001
|
NM_001267550.2(TTN):c.3410G>A (p.Gly1137Asp)
|
rs864309575
|
0.00001
|
NM_001267550.2(TTN):c.34435G>C (p.Glu11479Gln)
|
rs1298237270
|
0.00001
|
NM_001267550.2(TTN):c.34570C>T (p.Arg11524Ter)
|
rs1441434215
|
0.00001
|
NM_001267550.2(TTN):c.34787-16C>T
|
rs191530616
|
0.00001
|
NM_001267550.2(TTN):c.34820T>C (p.Val11607Ala)
|
rs371203499
|
0.00001
|
NM_001267550.2(TTN):c.36365-7T>C
|
rs746341489
|
0.00001
|
NM_001267550.2(TTN):c.38002A>G (p.Thr12668Ala)
|
rs1168512202
|
0.00001
|
NM_001267550.2(TTN):c.38353A>G (p.Lys12785Glu)
|
rs864622709
|
0.00001
|
NM_001267550.2(TTN):c.3868G>A (p.Glu1290Lys)
|
rs748755381
|
0.00001
|
NM_001267550.2(TTN):c.3876A>G (p.Gly1292=)
|
rs755784209
|
0.00001
|
NM_001267550.2(TTN):c.39001C>A (p.Pro13001Thr)
|
rs878854302
|
0.00001
|
NM_001267550.2(TTN):c.39284C>A (p.Pro13095His)
|
rs770419196
|
0.00001
|
NM_001267550.2(TTN):c.39553G>A (p.Glu13185Lys)
|
rs758150185
|
0.00001
|
NM_001267550.2(TTN):c.39883C>A (p.Pro13295Thr)
|
rs749860520
|
0.00001
|
NM_001267550.2(TTN):c.40222+6T>C
|
rs1182693405
|
0.00001
|
NM_001267550.2(TTN):c.40408+20A>G
|
rs750616546
|
0.00001
|
NM_001267550.2(TTN):c.40514C>T (p.Pro13505Leu)
|
rs371714559
|
0.00001
|
NM_001267550.2(TTN):c.40558+4T>C
|
rs398124451
|
0.00001
|
NM_001267550.2(TTN):c.40595T>G (p.Val13532Gly)
|
rs756446770
|
0.00001
|
NM_001267550.2(TTN):c.41104T>C (p.Ser13702Pro)
|
rs72650078
|
0.00001
|
NM_001267550.2(TTN):c.41180G>A (p.Arg13727His)
|
rs750520224
|
0.00001
|
NM_001267550.2(TTN):c.4169C>T (p.Pro1390Leu)
|
rs144011561
|
0.00001
|
NM_001267550.2(TTN):c.41810C>T (p.Ala13937Val)
|
rs545806408
|
0.00001
|
NM_001267550.2(TTN):c.41888G>A (p.Arg13963His)
|
rs540582993
|
0.00001
|
NM_001267550.2(TTN):c.42256T>A (p.Ser14086Thr)
|
rs777451130
|
0.00001
|
NM_001267550.2(TTN):c.42401G>A (p.Arg14134Gln)
|
rs764083952
|
0.00001
|
NM_001267550.2(TTN):c.42829A>T (p.Ile14277Phe)
|
rs397517568
|
0.00001
|
NM_001267550.2(TTN):c.42979G>A (p.Gly14327Arg)
|
rs375403946
|
0.00001
|
NM_001267550.2(TTN):c.4310T>A (p.Met1437Lys)
|
rs1018666766
|
0.00001
|
NM_001267550.2(TTN):c.4314C>T (p.Ser1438=)
|
rs764817754
|
0.00001
|
NM_001267550.2(TTN):c.44419G>A (p.Asp14807Asn)
|
rs753053245
|
0.00001
|
NM_001267550.2(TTN):c.44425G>A (p.Val14809Met)
|
rs775225695
|
0.00001
|
NM_001267550.2(TTN):c.44870A>G (p.Glu14957Gly)
|
rs796961766
|
0.00001
|
NM_001267550.2(TTN):c.45893A>G (p.Glu15298Gly)
|
rs886055274
|
0.00001
|
NM_001267550.2(TTN):c.46369G>A (p.Glu15457Lys)
|
rs753664074
|
0.00001
|
NM_001267550.2(TTN):c.46771T>C (p.Tyr15591His)
|
rs775496863
|
0.00001
|
NM_001267550.2(TTN):c.4700T>C (p.Ile1567Thr)
|
rs145957227
|
0.00001
|
NM_001267550.2(TTN):c.4784T>G (p.Ile1595Ser)
|
rs1012905833
|
0.00001
|
NM_001267550.2(TTN):c.47875+6T>C
|
rs780524253
|
0.00001
|
NM_001267550.2(TTN):c.47892T>G (p.Asp15964Glu)
|
rs727503623
|
0.00001
|
NM_001267550.2(TTN):c.48152A>G (p.Asn16051Ser)
|
rs534426018
|
0.00001
|
NM_001267550.2(TTN):c.49287C>T (p.Asn16429=)
|
rs763809932
|
0.00001
|
NM_001267550.2(TTN):c.49379C>G (p.Ser16460Cys)
|
rs397517596
|
0.00001
|
NM_001267550.2(TTN):c.49396G>A (p.Ala16466Thr)
|
rs755998484
|
0.00001
|
NM_001267550.2(TTN):c.49770G>C (p.Met16590Ile)
|
rs774495753
|
0.00001
|
NM_001267550.2(TTN):c.5000A>G (p.Tyr1667Cys)
|
rs140494897
|
0.00001
|
NM_001267550.2(TTN):c.50076C>T (p.Asp16692=)
|
rs397517598
|
0.00001
|
NM_001267550.2(TTN):c.50348T>C (p.Ile16783Thr)
|
rs950940404
|
0.00001
|
NM_001267550.2(TTN):c.51012G>T (p.Lys17004Asn)
|
rs755153359
|
0.00001
|
NM_001267550.2(TTN):c.51355T>G (p.Phe17119Val)
|
rs370696020
|
0.00001
|
NM_001267550.2(TTN):c.51377A>G (p.Lys17126Arg)
|
rs757728544
|
0.00001
|
NM_001267550.2(TTN):c.51449C>T (p.Pro17150Leu)
|
rs764792715
|
0.00001
|
NM_001267550.2(TTN):c.51579G>C (p.Arg17193Ser)
|
rs759285989
|
0.00001
|
NM_001267550.2(TTN):c.51649G>A (p.Glu17217Lys)
|
rs1060500503
|
0.00001
|
NM_001267550.2(TTN):c.52067G>A (p.Gly17356Asp)
|
rs759091835
|
0.00001
|
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His)
|
rs559590585
|
0.00001
|
NM_001267550.2(TTN):c.53149C>T (p.Arg17717Cys)
|
rs369001587
|
0.00001
|
NM_001267550.2(TTN):c.53207G>A (p.Arg17736Gln)
|
rs766817830
|
0.00001
|
NM_001267550.2(TTN):c.53569G>A (p.Val17857Ile)
|
rs1423994048
|
0.00001
|
NM_001267550.2(TTN):c.53707C>T (p.Arg17903Cys)
|
rs1016726284
|
0.00001
|
NM_001267550.2(TTN):c.53785G>A (p.Glu17929Lys)
|
rs201052994
|
0.00001
|
NM_001267550.2(TTN):c.54193C>T (p.Arg18065Cys)
|
rs369438623
|
0.00001
|
NM_001267550.2(TTN):c.54632C>G (p.Pro18211Arg)
|
rs764772164
|
0.00001
|
NM_001267550.2(TTN):c.54704G>A (p.Arg18235His)
|
rs750125113
|
0.00001
|
NM_001267550.2(TTN):c.54741G>A (p.Met18247Ile)
|
rs368858337
|
0.00001
|
NM_001267550.2(TTN):c.54854C>T (p.Thr18285Met)
|
rs761825854
|
0.00001
|
NM_001267550.2(TTN):c.54883C>T (p.Pro18295Ser)
|
rs1162176452
|
0.00001
|
NM_001267550.2(TTN):c.55195C>T (p.Pro18399Ser)
|
rs774591174
|
0.00001
|
NM_001267550.2(TTN):c.55270-3T>C
|
rs749109513
|
0.00001
|
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter)
|
rs1483931960
|
0.00001
|
NM_001267550.2(TTN):c.55727C>T (p.Pro18576Leu)
|
rs1362095957
|
0.00001
|
NM_001267550.2(TTN):c.55880A>C (p.Lys18627Thr)
|
rs727503597
|
0.00001
|
NM_001267550.2(TTN):c.56051-1G>A
|
rs1385817640
|
0.00001
|
NM_001267550.2(TTN):c.56213T>G (p.Val18738Gly)
|
rs777956655
|
0.00001
|
NM_001267550.2(TTN):c.5633G>A (p.Gly1878Glu)
|
rs745311218
|
0.00001
|
NM_001267550.2(TTN):c.56524T>C (p.Cys18842Arg)
|
rs371437953
|
0.00001
|
NM_001267550.2(TTN):c.56632G>A (p.Ala18878Thr)
|
rs886042564
|
0.00001
|
NM_001267550.2(TTN):c.56674A>C (p.Thr18892Pro)
|
rs780258242
|
0.00001
|
NM_001267550.2(TTN):c.57070A>G (p.Ile19024Val)
|
rs876658068
|
0.00001
|
NM_001267550.2(TTN):c.57262G>T (p.Val19088Phe)
|
rs727505347
|
0.00001
|
NM_001267550.2(TTN):c.57387T>A (p.Asn19129Lys)
|
rs375305621
|
0.00001
|
NM_001267550.2(TTN):c.57519G>T (p.Lys19173Asn)
|
rs1009412718
|
0.00001
|
NM_001267550.2(TTN):c.57832A>G (p.Ile19278Val)
|
rs56025724
|
0.00001
|
NM_001267550.2(TTN):c.5810C>G (p.Ser1937Cys)
|
rs747895202
|
0.00001
|
NM_001267550.2(TTN):c.58561G>A (p.Glu19521Lys)
|
rs746319976
|
0.00001
|
NM_001267550.2(TTN):c.58858A>G (p.Thr19620Ala)
|
rs1215190215
|
0.00001
|
NM_001267550.2(TTN):c.59711A>G (p.Asp19904Gly)
|
rs1016296280
|
0.00001
|
NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val)
|
rs886055258
|
0.00001
|
NM_001267550.2(TTN):c.60027C>T (p.Ile20009=)
|
rs368279024
|
0.00001
|
NM_001267550.2(TTN):c.60195C>A (p.Ile20065=)
|
rs990501984
|
0.00001
|
NM_001267550.2(TTN):c.60266T>C (p.Val20089Ala)
|
rs886039085
|
0.00001
|
NM_001267550.2(TTN):c.6039T>G (p.Ile2013Met)
|
rs727504208
|
0.00001
|
NM_001267550.2(TTN):c.60653C>T (p.Thr20218Met)
|
rs375155937
|
0.00001
|
NM_001267550.2(TTN):c.60681dup (p.Lys20228Ter)
|
rs797044692
|
0.00001
|
NM_001267550.2(TTN):c.60707T>G (p.Leu20236Arg)
|
rs778953994
|
0.00001
|
NM_001267550.2(TTN):c.60944G>A (p.Gly20315Asp)
|
rs765839032
|
0.00001
|
NM_001267550.2(TTN):c.61706G>A (p.Arg20569Lys)
|
rs371014957
|
0.00001
|
NM_001267550.2(TTN):c.6250A>G (p.Ile2084Val)
|
rs369388581
|
0.00001
|
NM_001267550.2(TTN):c.62602G>A (p.Val20868Met)
|
rs371004819
|
0.00001
|
NM_001267550.2(TTN):c.62644A>G (p.Thr20882Ala)
|
rs538308579
|
0.00001
|
NM_001267550.2(TTN):c.62896C>T (p.Arg20966Cys)
|
rs767887086
|
0.00001
|
NM_001267550.2(TTN):c.63131T>C (p.Ile21044Thr)
|
rs529879601
|
0.00001
|
NM_001267550.2(TTN):c.6314C>G (p.Pro2105Arg)
|
rs547169244
|
0.00001
|
NM_001267550.2(TTN):c.63187+5G>T
|
rs1292388582
|
0.00001
|
NM_001267550.2(TTN):c.63527T>C (p.Leu21176Ser)
|
rs72646854
|
0.00001
|
NM_001267550.2(TTN):c.64001A>G (p.Asn21334Ser)
|
rs753121509
|
0.00001
|
NM_001267550.2(TTN):c.64025C>G (p.Ala21342Gly)
|
rs1218513536
|
0.00001
|
NM_001267550.2(TTN):c.64454G>A (p.Arg21485Gln)
|
rs746903647
|
0.00001
|
NM_001267550.2(TTN):c.64493G>A (p.Cys21498Tyr)
|
rs752724337
|
0.00001
|
NM_001267550.2(TTN):c.64826C>T (p.Thr21609Met)
|
rs765913263
|
0.00001
|
NM_001267550.2(TTN):c.65369T>C (p.Ile21790Thr)
|
rs727503580
|
0.00001
|
NM_001267550.2(TTN):c.65565C>T (p.Leu21855=)
|
rs367880653
|
0.00001
|
NM_001267550.2(TTN):c.65799C>T (p.Asp21933=)
|
rs370123011
|
0.00001
|
NM_001267550.2(TTN):c.66200T>C (p.Ile22067Thr)
|
rs368042545
|
0.00001
|
NM_001267550.2(TTN):c.66479C>T (p.Pro22160Leu)
|
rs777364605
|
0.00001
|
NM_001267550.2(TTN):c.66545A>G (p.Tyr22182Cys)
|
rs879016147
|
0.00001
|
NM_001267550.2(TTN):c.66669G>A (p.Met22223Ile)
|
rs1049450842
|
0.00001
|
NM_001267550.2(TTN):c.66736G>A (p.Val22246Met)
|
rs1393150545
|
0.00001
|
NM_001267550.2(TTN):c.67051G>T (p.Val22351Leu)
|
rs764048936
|
0.00001
|
NM_001267550.2(TTN):c.67226C>T (p.Ser22409Phe)
|
rs1296710770
|
0.00001
|
NM_001267550.2(TTN):c.67328G>A (p.Arg22443His)
|
rs1389670032
|
0.00001
|
NM_001267550.2(TTN):c.67349-2A>C
|
rs753948675
|
0.00001
|
NM_001267550.2(TTN):c.67637-9A>G
|
rs2047164551
|
0.00001
|
NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met)
|
rs758700425
|
0.00001
|
NM_001267550.2(TTN):c.68635G>A (p.Glu22879Lys)
|
rs373765319
|
0.00001
|
NM_001267550.2(TTN):c.68984A>C (p.Gln22995Pro)
|
rs879410317
|
0.00001
|
NM_001267550.2(TTN):c.69379C>G (p.Gln23127Glu)
|
rs953796748
|
0.00001
|
NM_001267550.2(TTN):c.69959A>G (p.Asn23320Ser)
|
rs756468956
|
0.00001
|
NM_001267550.2(TTN):c.70006G>A (p.Val23336Ile)
|
rs781015638
|
0.00001
|
NM_001267550.2(TTN):c.70166C>G (p.Ala23389Gly)
|
rs1194442496
|
0.00001
|
NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met)
|
rs397517683
|
0.00001
|
NM_001267550.2(TTN):c.70243A>C (p.Met23415Leu)
|
rs200029470
|
0.00001
|
NM_001267550.2(TTN):c.70391G>T (p.Gly23464Val)
|
rs549938348
|
0.00001
|
NM_001267550.2(TTN):c.70753G>A (p.Val23585Met)
|
rs754040141
|
0.00001
|
NM_001267550.2(TTN):c.70964T>C (p.Ile23655Thr)
|
rs794729488
|
0.00001
|
NM_001267550.2(TTN):c.71624C>A (p.Thr23875Asn)
|
rs771783837
|
0.00001
|
NM_001267550.2(TTN):c.71908C>T (p.Arg23970Trp)
|
rs748041610
|
0.00001
|
NM_001267550.2(TTN):c.72317A>C (p.Asn24106Thr)
|
rs1386956312
|
0.00001
|
NM_001267550.2(TTN):c.72394G>A (p.Val24132Ile)
|
rs727504188
|
0.00001
|
NM_001267550.2(TTN):c.72487C>T (p.Arg24163Cys)
|
rs778284888
|
0.00001
|
NM_001267550.2(TTN):c.73124C>T (p.Pro24375Leu)
|
rs376041680
|
0.00001
|
NM_001267550.2(TTN):c.73149G>A (p.Ser24383=)
|
rs564938876
|
0.00001
|
NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter)
|
rs794729284
|
0.00001
|
NM_001267550.2(TTN):c.73888A>G (p.Arg24630Gly)
|
rs573355547
|
0.00001
|
NM_001267550.2(TTN):c.7399A>G (p.Lys2467Glu)
|
rs1362423521
|
0.00001
|
NM_001267550.2(TTN):c.74063G>A (p.Arg24688His)
|
rs376988498
|
0.00001
|
NM_001267550.2(TTN):c.74224C>T (p.Arg24742Cys)
|
rs369489704
|
0.00001
|
NM_001267550.2(TTN):c.74339G>A (p.Arg24780Gln)
|
rs776673912
|
0.00001
|
NM_001267550.2(TTN):c.74981C>T (p.Pro24994Leu)
|
rs531281558
|
0.00001
|
NM_001267550.2(TTN):c.75053T>C (p.Val25018Ala)
|
rs745832906
|
0.00001
|
NM_001267550.2(TTN):c.7517G>A (p.Arg2506Gln)
|
rs758719859
|
0.00001
|
NM_001267550.2(TTN):c.75329G>A (p.Arg25110Gln)
|
rs757674072
|
0.00001
|
NM_001267550.2(TTN):c.7534G>A (p.Glu2512Lys)
|
rs116049561
|
0.00001
|
NM_001267550.2(TTN):c.75816C>T (p.Gly25272=)
|
rs770708534
|
0.00001
|
NM_001267550.2(TTN):c.75982C>A (p.Pro25328Thr)
|
rs201776072
|
0.00001
|
NM_001267550.2(TTN):c.76556T>C (p.Ile25519Thr)
|
rs376185524
|
0.00001
|
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter)
|
rs545954490
|
0.00001
|
NM_001267550.2(TTN):c.7682T>C (p.Ile2561Thr)
|
rs747031357
|
0.00001
|
NM_001267550.2(TTN):c.76949C>A (p.Ala25650Asp)
|
rs886042780
|
0.00001
|
NM_001267550.2(TTN):c.76962C>G (p.Asn25654Lys)
|
rs755800765
|
0.00001
|
NM_001267550.2(TTN):c.77145dup (p.Ser25716fs)
|
rs1205409465
|
0.00001
|
NM_001267550.2(TTN):c.77329A>G (p.Lys25777Glu)
|
rs778484596
|
0.00001
|
NM_001267550.2(TTN):c.77984G>A (p.Gly25995Asp)
|
rs745801476
|
0.00001
|
NM_001267550.2(TTN):c.77999C>T (p.Thr26000Ile)
|
rs794729506
|
0.00001
|
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter)
|
rs794729289
|
0.00001
|
NM_001267550.2(TTN):c.79342G>A (p.Val26448Met)
|
rs1380054566
|
0.00001
|
NM_001267550.2(TTN):c.79885G>C (p.Glu26629Gln)
|
rs727504673
|
0.00001
|
NM_001267550.2(TTN):c.79909G>A (p.Val26637Ile)
|
rs375605062
|
0.00001
|
NM_001267550.2(TTN):c.80228A>C (p.Lys26743Thr)
|
rs368263400
|
0.00001
|
NM_001267550.2(TTN):c.80414A>C (p.Glu26805Ala)
|
rs370095455
|
0.00001
|
NM_001267550.2(TTN):c.80542G>C (p.Glu26848Gln)
|
rs898433512
|
0.00001
|
NM_001267550.2(TTN):c.80782G>A (p.Val26928Ile)
|
rs780885076
|
0.00001
|
NM_001267550.2(TTN):c.8083A>T (p.Thr2695Ser)
|
rs780082683
|
0.00001
|
NM_001267550.2(TTN):c.81094A>G (p.Ile27032Val)
|
rs369908251
|
0.00001
|
NM_001267550.2(TTN):c.81168T>C (p.Ser27056=)
|
rs767101518
|
0.00001
|
NM_001267550.2(TTN):c.81511T>C (p.Cys27171Arg)
|
rs727504678
|
0.00001
|
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter)
|
rs1575649368
|
0.00001
|
NM_001267550.2(TTN):c.82641A>G (p.Glu27547=)
|
rs372153745
|
0.00001
|
NM_001267550.2(TTN):c.82687C>T (p.Arg27563Cys)
|
rs72648214
|
0.00001
|
NM_001267550.2(TTN):c.83064_83073del (p.Ala27689fs)
|
rs794729351
|
0.00001
|
NM_001267550.2(TTN):c.83404A>G (p.Ile27802Val)
|
rs727504723
|
0.00001
|
NM_001267550.2(TTN):c.83766T>C (p.Thr27922=)
|
rs757873540
|
0.00001
|
NM_001267550.2(TTN):c.84122C>T (p.Ala28041Val)
|
rs900858263
|
0.00001
|
NM_001267550.2(TTN):c.84347T>C (p.Ile28116Thr)
|
rs1468127080
|
0.00001
|
NM_001267550.2(TTN):c.84398A>G (p.Asn28133Ser)
|
rs727505053
|
0.00001
|
NM_001267550.2(TTN):c.85119G>T (p.Glu28373Asp)
|
rs770787056
|
0.00001
|
NM_001267550.2(TTN):c.85768C>A (p.Arg28590=)
|
rs748689777
|
0.00001
|
NM_001267550.2(TTN):c.87077C>T (p.Pro29026Leu)
|
rs876658090
|
0.00001
|
NM_001267550.2(TTN):c.87131T>C (p.Ile29044Thr)
|
rs768120552
|
0.00001
|
NM_001267550.2(TTN):c.8713G>A (p.Val2905Met)
|
rs369380469
|
0.00001
|
NM_001267550.2(TTN):c.88109A>G (p.Tyr29370Cys)
|
rs756679529
|
0.00001
|
NM_001267550.2(TTN):c.88156A>T (p.Ser29386Cys)
|
rs727505102
|
0.00001
|
NM_001267550.2(TTN):c.88514G>A (p.Arg29505His)
|
rs143193258
|
0.00001
|
NM_001267550.2(TTN):c.88820G>A (p.Arg29607Gln)
|
rs755212831
|
0.00001
|
NM_001267550.2(TTN):c.88863A>C (p.Glu29621Asp)
|
rs750981091
|
0.00001
|
NM_001267550.2(TTN):c.89207G>C (p.Gly29736Ala)
|
rs1454670479
|
0.00001
|
NM_001267550.2(TTN):c.8921T>C (p.Met2974Thr)
|
rs899464143
|
0.00001
|
NM_001267550.2(TTN):c.89552C>A (p.Ala29851Asp)
|
rs774885355
|
0.00001
|
NM_001267550.2(TTN):c.90103C>T (p.Arg30035Cys)
|
rs397517747
|
0.00001
|
NM_001267550.2(TTN):c.90186_90188del (p.Thr30063del)
|
rs758914867
|
0.00001
|
NM_001267550.2(TTN):c.90441C>A (p.His30147Gln)
|
rs72648242
|
0.00001
|
NM_001267550.2(TTN):c.92291C>A (p.Thr30764Lys)
|
rs376537509
|
0.00001
|
NM_001267550.2(TTN):c.92488G>A (p.Val30830Ile)
|
rs376287060
|
0.00001
|
NM_001267550.2(TTN):c.92552T>G (p.Met30851Arg)
|
rs1206527
|
0.00001
|
NM_001267550.2(TTN):c.92821G>A (p.Ala30941Thr)
|
rs777150584
|
0.00001
|
NM_001267550.2(TTN):c.9303C>G (p.Asp3101Glu)
|
rs148676491
|
0.00001
|
NM_001267550.2(TTN):c.93262T>G (p.Phe31088Val)
|
rs1023137329
|
0.00001
|
NM_001267550.2(TTN):c.93868C>T (p.Leu31290=)
|
rs557737090
|
0.00001
|
NM_001267550.2(TTN):c.93935T>G (p.Val31312Gly)
|
rs201344229
|
0.00001
|
NM_001267550.2(TTN):c.94620C>A (p.Gly31540=)
|
rs746325775
|
0.00001
|
NM_001267550.2(TTN):c.94652T>C (p.Val31551Ala)
|
rs369870689
|
0.00001
|
NM_001267550.2(TTN):c.94740T>C (p.Tyr31580=)
|
rs1359929309
|
0.00001
|
NM_001267550.2(TTN):c.9486G>A (p.Gln3162=)
|
rs768927616
|
0.00001
|
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)
|
rs753334568
|
0.00001
|
NM_001267550.2(TTN):c.95234T>G (p.Val31745Gly)
|
rs886042114
|
0.00001
|
NM_001267550.2(TTN):c.95616C>A (p.Ser31872Arg)
|
rs757129504
|
0.00001
|
NM_001267550.2(TTN):c.95728C>T (p.Pro31910Ser)
|
rs199618831
|
0.00001
|
NM_001267550.2(TTN):c.9642T>A (p.Asp3214Glu)
|
rs368323634
|
0.00001
|
NM_001267550.2(TTN):c.96698G>A (p.Arg32233Gln)
|
rs755082341
|
0.00001
|
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs)
|
rs794729365
|
0.00001
|
NM_001267550.2(TTN):c.97051G>A (p.Glu32351Lys)
|
rs727504879
|
0.00001
|
NM_001267550.2(TTN):c.97194C>T (p.Asp32398=)
|
rs768594716
|
0.00001
|
NM_001267550.2(TTN):c.97419T>C (p.Arg32473=)
|
rs1317447790
|
0.00001
|
NM_001267550.2(TTN):c.9770G>A (p.Arg3257His)
|
rs535876380
|
0.00001
|
NM_001267550.2(TTN):c.97754C>G (p.Pro32585Arg)
|
rs373959972
|
0.00001
|
NM_001267550.2(TTN):c.97892A>T (p.Lys32631Ile)
|
rs944963846
|
0.00001
|
NM_001267550.2(TTN):c.97943C>A (p.Thr32648Asn)
|
rs775309560
|
0.00001
|
NM_001267550.2(TTN):c.9820A>C (p.Lys3274Gln)
|
rs201696360
|
0.00001
|
NM_001267550.2(TTN):c.98238T>C (p.Ser32746=)
|
rs879159807
|
0.00001
|
NM_001267550.2(TTN):c.98803G>A (p.Glu32935Lys)
|
rs1407053984
|
0.00001
|
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala)
|
rs397516455
|
0.00001
|
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp)
|
rs397516456
|
0.00001
|
NM_001276345.2(TNNT2):c.411C>T (p.Ile137=)
|
rs727504322
|
0.00001
|
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)
|
rs397516463
|
0.00001
|
NM_001276345.2(TNNT2):c.450C>T (p.Ile150=)
|
rs200604266
|
0.00001
|
NM_001276345.2(TNNT2):c.473G>A (p.Arg158Gln)
|
rs730881102
|
0.00001
|
NM_001276345.2(TNNT2):c.601-1G>A
|
rs483352835
|
0.00001
|
NM_001276345.2(TNNT2):c.613G>A (p.Glu205Lys)
|
rs150008205
|
0.00001
|
NM_001276345.2(TNNT2):c.659A>T (p.Lys220Met)
|
rs190805300
|
0.00001
|
NM_001276345.2(TNNT2):c.677G>A (p.Arg226Lys)
|
rs1205564576
|
0.00001
|
NM_001276345.2(TNNT2):c.775G>A (p.Asp259Asn)
|
rs141805127
|
0.00001
|
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)
|
rs727504247
|
0.00001
|
NM_001289808.2(CRYAB):c.102G>T (p.Glu34Asp)
|
rs886047688
|
0.00001
|
NM_001289808.2(CRYAB):c.343del (p.Ser115fs)
|
rs281865142
|
0.00001
|
NM_001289808.2(CRYAB):c.362A>G (p.Lys121Arg)
|
rs781915800
|
0.00001
|
NM_001368067.1(LDB3):c.490G>C (p.Asp164His)
|
rs1000020884
|
0.00001
|
NM_001458.5(FLNC):c.1054G>A (p.Val352Met)
|
rs773023988
|
0.00001
|
NM_001458.5(FLNC):c.1328C>T (p.Ala443Val)
|
rs1808207788
|
0.00001
|
NM_001458.5(FLNC):c.1766C>T (p.Ser589Leu)
|
rs780098760
|
0.00001
|
NM_001458.5(FLNC):c.2023C>T (p.Pro675Ser)
|
rs1227192105
|
0.00001
|
NM_001458.5(FLNC):c.2065G>A (p.Glu689Lys)
|
rs1446694237
|
0.00001
|
NM_001458.5(FLNC):c.2307G>A (p.Val769=)
|
rs906089015
|
0.00001
|
NM_001458.5(FLNC):c.2376C>T (p.Ser792=)
|
rs754097557
|
0.00001
|
NM_001458.5(FLNC):c.2404G>A (p.Gly802Ser)
|
rs371398126
|
0.00001
|
NM_001458.5(FLNC):c.2424C>T (p.Gly808=)
|
rs764991202
|
0.00001
|
NM_001458.5(FLNC):c.3014C>T (p.Ser1005Leu)
|
rs752448040
|
0.00001
|
NM_001458.5(FLNC):c.3890G>A (p.Gly1297Glu)
|
rs771575526
|
0.00001
|
NM_001458.5(FLNC):c.3893C>T (p.Ala1298Val)
|
rs1064796931
|
0.00001
|
NM_001458.5(FLNC):c.4474G>A (p.Glu1492Lys)
|
rs71581926
|
0.00001
|
NM_001458.5(FLNC):c.470G>A (p.Arg157His)
|
rs752919962
|
0.00001
|
NM_001458.5(FLNC):c.4790C>T (p.Thr1597Met)
|
rs753742681
|
0.00001
|
NM_001458.5(FLNC):c.5043G>A (p.Thr1681=)
|
rs200405579
|
0.00001
|
NM_001458.5(FLNC):c.5132C>T (p.Pro1711Leu)
|
rs748879903
|
0.00001
|
NM_001458.5(FLNC):c.5242C>T (p.Pro1748Ser)
|
rs1380018208
|
0.00001
|
NM_001458.5(FLNC):c.5272C>T (p.Arg1758Trp)
|
rs369187211
|
0.00001
|
NM_001458.5(FLNC):c.5458G>A (p.Gly1820Ser)
|
rs763930207
|
0.00001
|
NM_001458.5(FLNC):c.5842+12G>A
|
rs745604311
|
0.00001
|
NM_001458.5(FLNC):c.5935G>A (p.Ala1979Thr)
|
rs766127245
|
0.00001
|
NM_001458.5(FLNC):c.5996G>A (p.Arg1999Gln)
|
rs1346364708
|
0.00001
|
NM_001458.5(FLNC):c.6559C>T (p.Arg2187Cys)
|
rs747336635
|
0.00001
|
NM_001458.5(FLNC):c.6878G>A (p.Arg2293His)
|
rs1034483511
|
0.00001
|
NM_001458.5(FLNC):c.7328G>A (p.Arg2443Gln)
|
rs370293647
|
0.00001
|
NM_001458.5(FLNC):c.7449C>T (p.Asn2483=)
|
rs761006044
|
0.00001
|
NM_001458.5(FLNC):c.7657C>T (p.Arg2553Trp)
|
rs199519281
|
0.00001
|
NM_001458.5(FLNC):c.7946T>C (p.Phe2649Ser)
|
rs755387909
|
0.00001
|
NM_001458.5(FLNC):c.905C>T (p.Thr302Met)
|
rs776362922
|
0.00001
|
NM_001927.4(DES):c.1027G>A (p.Asp343Asn)
|
rs763903197
|
0.00001
|
NM_001927.4(DES):c.1038G>A (p.Met346Ile)
|
rs778340812
|
0.00001
|
NM_001927.4(DES):c.1079C>T (p.Ala360Val)
|
rs141592925
|
0.00001
|
NM_001927.4(DES):c.1105C>T (p.Arg369Cys)
|
rs1475674849
|
0.00001
|
NM_001927.4(DES):c.1148G>A (p.Arg383His)
|
rs1292042317
|
0.00001
|
NM_001927.4(DES):c.1217G>A (p.Arg406Gln)
|
rs1057520275
|
0.00001
|
NM_001927.4(DES):c.1258A>C (p.Ile420Leu)
|
rs1427557970
|
0.00001
|
NM_001927.4(DES):c.1272T>C (p.Ser424=)
|
rs370720293
|
0.00001
|
NM_001927.4(DES):c.1333A>G (p.Thr445Ala)
|
rs267607498
|
0.00001
|
NM_001927.4(DES):c.322G>T (p.Glu108Ter)
|
rs62636490
|
0.00001
|
NM_001927.4(DES):c.517C>A (p.Arg173Ser)
|
rs752944882
|
0.00001
|
NM_001927.4(DES):c.615G>C (p.Glu205Asp)
|
rs1295010624
|
0.00001
|
NM_001927.4(DES):c.634C>T (p.Arg212Ter)
|
rs781590560
|
0.00001
|
NM_001927.4(DES):c.65C>G (p.Pro22Arg)
|
rs748158450
|
0.00001
|
NM_001927.4(DES):c.727C>T (p.His243Tyr)
|
rs769647148
|
0.00001
|
NM_001927.4(DES):c.817G>A (p.Ala273Thr)
|
rs770258461
|
0.00001
|
NM_001927.4(DES):c.885G>A (p.Trp295Ter)
|
rs146755676
|
0.00001
|
NM_001943.5(DSG2):c.1013A>T (p.Lys338Met)
|
rs1454000095
|
0.00001
|
NM_001943.5(DSG2):c.1106A>T (p.Lys369Met)
|
rs375740419
|
0.00001
|
NM_001943.5(DSG2):c.1163T>G (p.Phe388Cys)
|
rs369214871
|
0.00001
|
NM_001943.5(DSG2):c.128A>G (p.His43Arg)
|
rs370922106
|
0.00001
|
NM_001943.5(DSG2):c.1292T>C (p.Leu431Ser)
|
rs540113579
|
0.00001
|
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)
|
rs121913008
|
0.00001
|
NM_001943.5(DSG2):c.1439C>T (p.Thr480Ile)
|
rs1598819592
|
0.00001
|
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr)
|
rs121913009
|
0.00001
|
NM_001943.5(DSG2):c.1652-8C>T
|
rs770497608
|
0.00001
|
NM_001943.5(DSG2):c.2035G>A (p.Gly679Ser)
|
rs756896076
|
0.00001
|
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile)
|
rs727502989
|
0.00001
|
NM_001943.5(DSG2):c.233C>A (p.Ala78Glu)
|
rs769649528
|
0.00001
|
NM_001943.5(DSG2):c.2375_2379dup (p.Asp794fs)
|
rs773328409
|
0.00001
|
NM_001943.5(DSG2):c.2420T>C (p.Leu807Pro)
|
rs1384172051
|
0.00001
|
NM_001943.5(DSG2):c.2525G>A (p.Gly842Asp)
|
rs374177723
|
0.00001
|
NM_001943.5(DSG2):c.2589G>A (p.Met863Ile)
|
rs375955157
|
0.00001
|
NM_001943.5(DSG2):c.2642C>T (p.Thr881Ile)
|
rs760786694
|
0.00001
|
NM_001943.5(DSG2):c.2742T>C (p.Ser914=)
|
rs529198523
|
0.00001
|
NM_001943.5(DSG2):c.2750C>T (p.Ala917Val)
|
rs775670183
|
0.00001
|
NM_001943.5(DSG2):c.2768C>G (p.Pro923Arg)
|
rs1408093009
|
0.00001
|
NM_001943.5(DSG2):c.2813C>A (p.Thr938Asn)
|
rs919875624
|
0.00001
|
NM_001943.5(DSG2):c.2953G>A (p.Val985Ile)
|
rs749540432
|
0.00001
|
NM_001943.5(DSG2):c.296T>A (p.Phe99Tyr)
|
rs1275376903
|
0.00001
|
NM_001943.5(DSG2):c.466G>A (p.Glu156Lys)
|
rs566251077
|
0.00001
|
NM_001943.5(DSG2):c.523+2T>C
|
rs397516709
|
0.00001
|
NM_001943.5(DSG2):c.581C>T (p.Ser194Leu)
|
rs374875442
|
0.00001
|
NM_001943.5(DSG2):c.613C>T (p.Pro205Ser)
|
rs200946320
|
0.00001
|
NM_001943.5(DSG2):c.908C>T (p.Ser303Phe)
|
rs757792714
|
0.00001
|
NM_002230.4(JUP):c.1128G>A (p.Leu376=)
|
rs781926392
|
0.00001
|
NM_002230.4(JUP):c.1129C>A (p.Arg377Ser)
|
rs368564000
|
0.00001
|
NM_002230.4(JUP):c.1336G>T (p.Gly446Cys)
|
rs781876461
|
0.00001
|
NM_002230.4(JUP):c.1355C>T (p.Thr452Met)
|
rs781888888
|
0.00001
|
NM_002230.4(JUP):c.1576C>T (p.Arg526Cys)
|
rs782309611
|
0.00001
|
NM_002230.4(JUP):c.1744C>T (p.Arg582Trp)
|
rs782205755
|
0.00001
|
NM_002230.4(JUP):c.2060T>C (p.Ile687Thr)
|
rs1181838480
|
0.00001
|
NM_002230.4(JUP):c.2078A>G (p.Tyr693Cys)
|
rs782475413
|
0.00001
|
NM_002230.4(JUP):c.211G>T (p.Asp71Tyr)
|
rs781869872
|
0.00001
|
NM_002230.4(JUP):c.2193C>T (p.Asp731=)
|
rs199683273
|
0.00001
|
NM_002230.4(JUP):c.256C>T (p.Arg86Trp)
|
rs782240305
|
0.00001
|
NM_002230.4(JUP):c.525G>A (p.Ser175=)
|
rs782794110
|
0.00001
|
NM_002230.4(JUP):c.628C>T (p.His210Tyr)
|
rs1567818128
|
0.00001
|
NM_002230.4(JUP):c.661G>A (p.Ala221Thr)
|
rs782076415
|
0.00001
|
NM_002230.4(JUP):c.71C>T (p.Ser24Leu)
|
rs782460555
|
0.00001
|
NM_002230.4(JUP):c.764T>G (p.Leu255Arg)
|
rs878854482
|
0.00001
|
NM_002230.4(JUP):c.794G>A (p.Arg265His)
|
rs782440692
|
0.00001
|
NM_002230.4(JUP):c.849G>T (p.Lys283Asn)
|
rs794729054
|
0.00001
|
NM_002230.4(JUP):c.87C>T (p.Gly29=)
|
rs199530395
|
0.00001
|
NM_002471.4(MYH6):c.1373T>C (p.Ile458Thr)
|
rs774807696
|
0.00001
|
NM_002471.4(MYH6):c.1492G>A (p.Glu498Lys)
|
rs375142167
|
0.00001
|
NM_002471.4(MYH6):c.1523A>T (p.Glu508Val)
|
rs1017557276
|
0.00001
|
NM_002471.4(MYH6):c.1726G>A (p.Ala576Thr)
|
rs1488705293
|
0.00001
|
NM_002471.4(MYH6):c.1791A>T (p.Lys597Asn)
|
rs1252826013
|
0.00001
|
NM_002471.4(MYH6):c.182C>T (p.Ala61Val)
|
rs730880148
|
0.00001
|
NM_002471.4(MYH6):c.1961G>A (p.Arg654Gln)
|
rs763585076
|
0.00001
|
NM_002471.4(MYH6):c.2044G>T (p.Ala682Ser)
|
rs927752391
|
0.00001
|
NM_002471.4(MYH6):c.2051-1G>A
|
rs773772551
|
0.00001
|
NM_002471.4(MYH6):c.2169-8C>T
|
rs1006825673
|
0.00001
|
NM_002471.4(MYH6):c.2292+1G>A
|
rs771569935
|
0.00001
|
NM_002471.4(MYH6):c.2576G>C (p.Gly859Ala)
|
rs779528748
|
0.00001
|
NM_002471.4(MYH6):c.2664C>T (p.Asp888=)
|
rs755699724
|
0.00001
|
NM_002471.4(MYH6):c.2684C>T (p.Ala895Val)
|
rs1372933415
|
0.00001
|
NM_002471.4(MYH6):c.2980C>A (p.Leu994Met)
|
rs727503238
|
0.00001
|
NM_002471.4(MYH6):c.3140G>A (p.Arg1047His)
|
rs775843647
|
0.00001
|
NM_002471.4(MYH6):c.3189G>C (p.Leu1063=)
|
rs745729273
|
0.00001
|
NM_002471.4(MYH6):c.3220G>A (p.Asp1074Asn)
|
rs375169402
|
0.00001
|
NM_002471.4(MYH6):c.3316C>A (p.Leu1106Ile)
|
rs1595055372
|
0.00001
|
NM_002471.4(MYH6):c.3393G>A (p.Arg1131=)
|
rs529107714
|
0.00001
|
NM_002471.4(MYH6):c.3584G>A (p.Arg1195His)
|
rs747891865
|
0.00001
|
NM_002471.4(MYH6):c.3758C>T (p.Thr1253Met)
|
rs201051663
|
0.00001
|
NM_002471.4(MYH6):c.3838G>A (p.Ala1280Thr)
|
rs762102758
|
0.00001
|
NM_002471.4(MYH6):c.3871C>T (p.Arg1291Trp)
|
rs1372245953
|
0.00001
|
NM_002471.4(MYH6):c.3902C>T (p.Ser1301Leu)
|
rs767570086
|
0.00001
|
NM_002471.4(MYH6):c.4300G>A (p.Val1434Ile)
|
rs397516769
|
0.00001
|
NM_002471.4(MYH6):c.4307G>A (p.Arg1436His)
|
rs142556730
|
0.00001
|
NM_002471.4(MYH6):c.4349A>C (p.Asn1450Thr)
|
rs1005724382
|
0.00001
|
NM_002471.4(MYH6):c.4369G>A (p.Glu1457Lys)
|
rs267606905
|
0.00001
|
NM_002471.4(MYH6):c.4394C>T (p.Ser1465Leu)
|
rs766327056
|
0.00001
|
NM_002471.4(MYH6):c.4396C>G (p.Gln1466Glu)
|
rs773067289
|
0.00001
|
NM_002471.4(MYH6):c.4471G>A (p.Glu1491Lys)
|
rs1314169075
|
0.00001
|
NM_002471.4(MYH6):c.4504C>A (p.Arg1502=)
|
rs773631723
|
0.00001
|
NM_002471.4(MYH6):c.4713G>T (p.Lys1571Asn)
|
rs730880151
|
0.00001
|
NM_002471.4(MYH6):c.4823G>A (p.Arg1608His)
|
rs747494958
|
0.00001
|
NM_002471.4(MYH6):c.4874A>G (p.Asn1625Ser)
|
rs776765616
|
0.00001
|
NM_002471.4(MYH6):c.493A>T (p.Met165Leu)
|
rs972242173
|
0.00001
|
NM_002471.4(MYH6):c.4960-9G>A
|
rs557113705
|
0.00001
|
NM_002471.4(MYH6):c.5071C>T (p.Arg1691Cys)
|
rs745747137
|
0.00001
|
NM_002471.4(MYH6):c.5072G>A (p.Arg1691His)
|
rs727504502
|
0.00001
|
NM_002471.4(MYH6):c.5278G>A (p.Ala1760Thr)
|
rs146539406
|
0.00001
|
NM_002471.4(MYH6):c.5297T>C (p.Met1766Thr)
|
rs760667847
|
0.00001
|
NM_002471.4(MYH6):c.5459G>A (p.Arg1820Gln)
|
rs371222772
|
0.00001
|
NM_002471.4(MYH6):c.5481G>C (p.Glu1827Asp)
|
rs760865481
|
0.00001
|
NM_002471.4(MYH6):c.5540G>A (p.Arg1847Gln)
|
rs767679378
|
0.00001
|
NM_002471.4(MYH6):c.5797-2A>G
|
rs751748384
|
0.00001
|
NM_002471.4(MYH6):c.68G>A (p.Arg23His)
|
rs771786844
|
0.00001
|
NM_002471.4(MYH6):c.71T>C (p.Leu24Pro)
|
rs1320990570
|
0.00001
|
NM_002471.4(MYH6):c.779C>T (p.Ala260Val)
|
rs1470827277
|
0.00001
|
NM_002667.5(PLN):c.61C>A (p.Pro21Thr)
|
rs397516786
|
0.00001
|
NM_002755.4(MAP2K1):c.693+20T>C
|
rs753107656
|
0.00001
|
NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser)
|
rs771613524
|
0.00001
|
NM_002834.5(PTPN11):c.1011G>A (p.Thr337=)
|
rs371951288
|
0.00001
|
NM_002834.5(PTPN11):c.1047C>T (p.Asn349=)
|
rs1222504763
|
0.00001
|
NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala)
|
rs146571700
|
0.00001
|
NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys)
|
rs41299183
|
0.00001
|
NM_002834.5(PTPN11):c.1131A>C (p.Leu377=)
|
rs370059077
|
0.00001
|
NM_002834.5(PTPN11):c.1233G>A (p.Thr411=)
|
rs1325353647
|
0.00001
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)
|
rs397507541
|
0.00001
|
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu)
|
rs397507546
|
0.00001
|
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=)
|
rs374896287
|
0.00001
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
NM_002834.5(PTPN11):c.244A>G (p.Met82Val)
|
rs397507515
|
0.00001
|
NM_002834.5(PTPN11):c.289G>C (p.Glu97Gln)
|
rs397507516
|
0.00001
|
NM_002834.5(PTPN11):c.563A>G (p.Asp188Gly)
|
rs1436513335
|
0.00001
|
NM_002834.5(PTPN11):c.642G>A (p.Gln214=)
|
rs876661383
|
0.00001
|
NM_002834.5(PTPN11):c.874C>T (p.Leu292=)
|
rs930267460
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_002834.5(PTPN11):c.931A>G (p.Met311Val)
|
rs774939392
|
0.00001
|
NM_002834.5(PTPN11):c.957C>T (p.Asn319=)
|
rs771407775
|
0.00001
|
NM_002880.4(RAF1):c.482A>G (p.Asn161Ser)
|
rs775781057
|
0.00001
|
NM_002880.4(RAF1):c.601A>G (p.Ile201Val)
|
rs757700986
|
0.00001
|
NM_003239.5(TGFB3):c.230G>A (p.Arg77Gln)
|
rs1036545575
|
0.00001
|
NM_003239.5(TGFB3):c.294G>A (p.Ser98=)
|
rs778214495
|
0.00001
|
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp)
|
rs868258653
|
0.00001
|
NM_003239.5(TGFB3):c.487C>T (p.Arg163Trp)
|
rs142601521
|
0.00001
|
NM_003239.5(TGFB3):c.580C>T (p.Arg194Trp)
|
rs368004396
|
0.00001
|
NM_003239.5(TGFB3):c.77C>G (p.Thr26Ser)
|
rs771543236
|
0.00001
|
NM_003239.5(TGFB3):c.82A>C (p.Thr28Pro)
|
rs564013964
|
0.00001
|
NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr)
|
rs762643638
|
0.00001
|
NM_003280.3(TNNC1):c.*75G>A
|
rs886058706
|
0.00001
|
NM_003280.3(TNNC1):c.202+5G>C
|
rs759472560
|
0.00001
|
NM_003280.3(TNNC1):c.208G>A (p.Gly70Ser)
|
rs772752716
|
0.00001
|
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)
|
rs267607125
|
0.00001
|
NM_003280.3(TNNC1):c.304C>T (p.Arg102Cys)
|
rs370103102
|
0.00001
|
NM_003280.3(TNNC1):c.356T>C (p.Ile119Thr)
|
rs200296115
|
0.00001
|
NM_003476.5(CSRP3):c.152C>A (p.Ala51Asp)
|
rs397516853
|
0.00001
|
NM_003476.5(CSRP3):c.168C>G (p.Ile56Met)
|
rs767360228
|
0.00001
|
NM_003476.5(CSRP3):c.206A>G (p.Lys69Arg)
|
rs137852764
|
0.00001
|
NM_003476.5(CSRP3):c.251C>T (p.Thr84Met)
|
rs777327517
|
0.00001
|
NM_003476.5(CSRP3):c.86G>A (p.Ser29Asn)
|
rs372717179
|
0.00001
|
NM_003476.5(CSRP3):c.98C>T (p.Thr33Met)
|
rs758947977
|
0.00001
|
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter)
|
rs104894655
|
0.00001
|
NM_003673.4(TCAP):c.194C>T (p.Pro65Leu)
|
rs2057250642
|
0.00001
|
NM_003673.4(TCAP):c.37G>A (p.Glu13Lys)
|
rs1042724474
|
0.00001
|
NM_003673.4(TCAP):c.401C>A (p.Ala134Asp)
|
rs786205287
|
0.00001
|
NM_003673.4(TCAP):c.66G>A (p.Trp22Ter)
|
rs141019458
|
0.00001
|
NM_003673.4(TCAP):c.98G>A (p.Arg33Gln)
|
rs1085307822
|
0.00001
|
NM_004006.3(DMD):c.10213A>G (p.Asn3405Asp)
|
rs770516401
|
0.00001
|
NM_004006.3(DMD):c.10712G>A (p.Arg3571His)
|
rs935091512
|
0.00001
|
NM_004006.3(DMD):c.10915T>C (p.Ser3639Pro)
|
rs990606875
|
0.00001
|
NM_004006.3(DMD):c.1109A>T (p.Asn370Ile)
|
rs773299186
|
0.00001
|
NM_004006.3(DMD):c.1388G>T (p.Trp463Leu)
|
rs863224981
|
0.00001
|
NM_004006.3(DMD):c.1648C>T (p.Arg550Cys)
|
rs778354538
|
0.00001
|
NM_004006.3(DMD):c.1749C>G (p.Asn583Lys)
|
rs775846754
|
0.00001
|
NM_004006.3(DMD):c.2017C>G (p.Gln673Glu)
|
rs128626232
|
0.00001
|
NM_004006.3(DMD):c.2039C>A (p.Thr680Asn)
|
rs367769606
|
0.00001
|
NM_004006.3(DMD):c.2079G>T (p.Gln693His)
|
rs761441684
|
0.00001
|
NM_004006.3(DMD):c.2312C>T (p.Ala771Val)
|
rs1245604423
|
0.00001
|
NM_004006.3(DMD):c.2381-7T>G
|
rs1201559737
|
0.00001
|
NM_004006.3(DMD):c.2551A>C (p.Asn851His)
|
rs753665097
|
0.00001
|
NM_004006.3(DMD):c.2764T>G (p.Phe922Val)
|
rs185395584
|
0.00001
|
NM_004006.3(DMD):c.3982C>G (p.Gln1328Glu)
|
rs745640786
|
0.00001
|
NM_004006.3(DMD):c.4404G>T (p.Glu1468Asp)
|
rs1462655612
|
0.00001
|
NM_004006.3(DMD):c.5146G>A (p.Val1716Met)
|
rs748814615
|
0.00001
|
NM_004006.3(DMD):c.5156G>A (p.Arg1719His)
|
rs1273883368
|
0.00001
|
NM_004006.3(DMD):c.5506C>G (p.Gln1836Glu)
|
rs770845480
|
0.00001
|
NM_004006.3(DMD):c.5741A>G (p.Glu1914Gly)
|
rs985546923
|
0.00001
|
NM_004006.3(DMD):c.6455T>C (p.Ile2152Thr)
|
rs767681834
|
0.00001
|
NM_004006.3(DMD):c.6763-2A>G
|
rs398124033
|
0.00001
|
NM_004006.3(DMD):c.7490G>T (p.Arg2497Met)
|
rs1312256471
|
0.00001
|
NM_004006.3(DMD):c.74T>C (p.Val25Ala)
|
rs886039061
|
0.00001
|
NM_004006.3(DMD):c.7799G>T (p.Arg2600Ile)
|
rs747127624
|
0.00001
|
NM_004006.3(DMD):c.8072T>C (p.Leu2691Pro)
|
rs748485762
|
0.00001
|
NM_004006.3(DMD):c.836C>T (p.Thr279Met)
|
rs369135184
|
0.00001
|
NM_004006.3(DMD):c.8704C>T (p.Arg2902Trp)
|
rs1188233243
|
0.00001
|
NM_004006.3(DMD):c.8945G>A (p.Arg2982Gln)
|
rs750579766
|
0.00001
|
NM_004100.5(EYA4):c.*1551G>T
|
rs895041455
|
0.00001
|
NM_004100.5(EYA4):c.*1943C>T
|
rs150567885
|
0.00001
|
NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu)
|
rs1168354526
|
0.00001
|
NM_004100.5(EYA4):c.1494C>T (p.Asn498=)
|
rs748934740
|
0.00001
|
NM_004100.5(EYA4):c.1822G>C (p.Glu608Gln)
|
rs1173508611
|
0.00001
|
NM_004100.5(EYA4):c.1840-16T>G
|
rs1039495587
|
0.00001
|
NM_004100.5(EYA4):c.213A>C (p.Glu71Asp)
|
rs200042576
|
0.00001
|
NM_004100.5(EYA4):c.83+5A>G
|
rs1060502995
|
0.00001
|
NM_004168.4(SDHA):c.1078G>A (p.Glu360Lys)
|
rs766779919
|
0.00001
|
NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala)
|
rs776888362
|
0.00001
|
NM_004168.4(SDHA):c.1429C>T (p.Pro477Ser)
|
rs770506764
|
0.00001
|
NM_004168.4(SDHA):c.1432_1432+1del
|
rs878854627
|
0.00001
|
NM_004168.4(SDHA):c.1483A>G (p.Asn495Asp)
|
rs757663708
|
0.00001
|
NM_004168.4(SDHA):c.1627T>C (p.Tyr543His)
|
rs1339009840
|
0.00001
|
NM_004168.4(SDHA):c.1663+1G>T
|
rs766667009
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_004168.4(SDHA):c.1798C>T (p.Arg600Trp)
|
rs878854630
|
0.00001
|
NM_004168.4(SDHA):c.1928C>G (p.Pro643Arg)
|
rs1060503717
|
0.00001
|
NM_004168.4(SDHA):c.1949A>G (p.Asn650Ser)
|
rs1485747007
|
0.00001
|
NM_004168.4(SDHA):c.340A>G (p.Met114Val)
|
rs933414586
|
0.00001
|
NM_004168.4(SDHA):c.466T>G (p.Tyr156Asp)
|
rs569384870
|
0.00001
|
NM_004168.4(SDHA):c.584G>A (p.Arg195Gln)
|
rs762956849
|
0.00001
|
NM_004168.4(SDHA):c.585G>C (p.Arg195=)
|
rs766339992
|
0.00001
|
NM_004168.4(SDHA):c.694C>T (p.Arg232Cys)
|
rs878854635
|
0.00001
|
NM_004168.4(SDHA):c.812C>G (p.Thr271Ser)
|
rs765611464
|
0.00001
|
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys)
|
rs182055219
|
0.00001
|
NM_004168.4(SDHA):c.919A>G (p.Ile307Val)
|
rs200632016
|
0.00001
|
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln)
|
rs752532780
|
0.00001
|
NM_004168.4(SDHA):c.954C>T (p.Leu318=)
|
rs1412623947
|
0.00001
|
NM_004281.4(BAG3):c.1100C>G (p.Pro367Arg)
|
rs786205347
|
0.00001
|
NM_004281.4(BAG3):c.1202C>G (p.Ala401Gly)
|
rs775153939
|
0.00001
|
NM_004281.4(BAG3):c.1418G>A (p.Arg473Gln)
|
rs150156178
|
0.00001
|
NM_004281.4(BAG3):c.1586C>G (p.Ala529Gly)
|
rs369690617
|
0.00001
|
NM_004281.4(BAG3):c.315C>G (p.Asn105Lys)
|
rs566015884
|
0.00001
|
NM_004281.4(BAG3):c.322G>A (p.Val108Met)
|
rs730880053
|
0.00001
|
NM_004281.4(BAG3):c.337G>A (p.Val113Ile)
|
rs781093275
|
0.00001
|
NM_004281.4(BAG3):c.343C>T (p.Pro115Ser)
|
rs774241343
|
0.00001
|
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter)
|
rs387906875
|
0.00001
|
NM_004281.4(BAG3):c.368G>A (p.Arg123Gln)
|
rs199991063
|
0.00001
|
NM_004281.4(BAG3):c.416G>A (p.Arg139Gln)
|
rs769913236
|
0.00001
|
NM_004281.4(BAG3):c.452G>A (p.Cys151Tyr)
|
rs770678896
|
0.00001
|
NM_004281.4(BAG3):c.557C>T (p.Ala186Val)
|
rs766766600
|
0.00001
|
NM_004281.4(BAG3):c.578G>A (p.Arg193Lys)
|
rs752722473
|
0.00001
|
NM_004281.4(BAG3):c.67C>T (p.Pro23Ser)
|
rs747846089
|
0.00001
|
NM_004281.4(BAG3):c.692C>T (p.Thr231Met)
|
rs747454279
|
0.00001
|
NM_004281.4(BAG3):c.836C>T (p.Ser279Leu)
|
rs751261054
|
0.00001
|
NM_004281.4(BAG3):c.909+4C>T
|
rs376351857
|
0.00001
|
NM_004281.4(BAG3):c.988C>T (p.Pro330Ser)
|
rs762376423
|
0.00001
|
NM_004333.6(BRAF):c.1061G>A (p.Arg354Gln)
|
rs1158980679
|
0.00001
|
NM_004333.6(BRAF):c.112G>C (p.Ala38Pro)
|
rs1011563467
|
0.00001
|
NM_004333.6(BRAF):c.1166G>A (p.Arg389His)
|
rs577372072
|
0.00001
|
NM_004333.6(BRAF):c.1237G>A (p.Val413Met)
|
rs377093637
|
0.00001
|
NM_004333.6(BRAF):c.1338G>A (p.Ser446=)
|
rs765215499
|
0.00001
|
NM_004333.6(BRAF):c.1848C>A (p.Ser616=)
|
rs752115982
|
0.00001
|
NM_004333.6(BRAF):c.1992+15C>T
|
rs766089848
|
0.00001
|
NM_004333.6(BRAF):c.26G>C (p.Gly9Ala)
|
rs1211436028
|
0.00001
|
NM_004333.6(BRAF):c.298T>C (p.Leu100=)
|
rs761709697
|
0.00001
|
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln)
|
rs557241012
|
0.00001
|
NM_004333.6(BRAF):c.712-18T>C
|
rs535496777
|
0.00001
|
NM_004415.4(DSP):c.1016A>G (p.Asn339Ser)
|
rs746245682
|
0.00001
|
NM_004415.4(DSP):c.1136T>C (p.Phe379Ser)
|
rs1064795084
|
0.00001
|
NM_004415.4(DSP):c.1262T>C (p.Leu421Pro)
|
rs763523373
|
0.00001
|
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln)
|
rs397516916
|
0.00001
|
NM_004415.4(DSP):c.1279A>G (p.Lys427Glu)
|
rs1430756602
|
0.00001
|
NM_004415.4(DSP):c.1323G>C (p.Lys441Asn)
|
rs1037212969
|
0.00001
|
NM_004415.4(DSP):c.1545G>A (p.Pro515=)
|
rs747953037
|
0.00001
|
NM_004415.4(DSP):c.1564C>G (p.Leu522Val)
|
rs1230995902
|
0.00001
|
NM_004415.4(DSP):c.1730T>C (p.Met577Thr)
|
rs141956992
|
0.00001
|
NM_004415.4(DSP):c.1860G>A (p.Gln620=)
|
rs762658467
|
0.00001
|
NM_004415.4(DSP):c.1960G>A (p.Val654Ile)
|
rs375629257
|
0.00001
|
NM_004415.4(DSP):c.2030G>A (p.Arg677Lys)
|
rs749238502
|
0.00001
|
NM_004415.4(DSP):c.2081C>T (p.Ala694Val)
|
rs543446763
|
0.00001
|
NM_004415.4(DSP):c.2423G>A (p.Arg808His)
|
rs372906646
|
0.00001
|
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro)
|
rs1008407158
|
0.00001
|
NM_004415.4(DSP):c.2822G>A (p.Arg941Gln)
|
rs759869347
|
0.00001
|
NM_004415.4(DSP):c.2850T>G (p.Ile950Met)
|
rs727502999
|
0.00001
|
NM_004415.4(DSP):c.2858T>C (p.Leu953Pro)
|
rs745641212
|
0.00001
|
NM_004415.4(DSP):c.2872A>G (p.Ile958Val)
|
rs377116090
|
0.00001
|
NM_004415.4(DSP):c.2906C>T (p.Thr969Ile)
|
rs1265482489
|
0.00001
|
NM_004415.4(DSP):c.2959T>A (p.Ser987Thr)
|
rs397516929
|
0.00001
|
NM_004415.4(DSP):c.2962C>T (p.Pro988Ser)
|
rs774742340
|
0.00001
|
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe)
|
rs746346559
|
0.00001
|
NM_004415.4(DSP):c.3001G>T (p.Ala1001Ser)
|
rs1218975129
|
0.00001
|
NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp)
|
rs772551736
|
0.00001
|
NM_004415.4(DSP):c.308G>A (p.Arg103Gln)
|
rs775015862
|
0.00001
|
NM_004415.4(DSP):c.314G>A (p.Arg105Gln)
|
rs762238621
|
0.00001
|
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp)
|
rs761331634
|
0.00001
|
NM_004415.4(DSP):c.3644A>G (p.Asn1215Ser)
|
rs777375223
|
0.00001
|
NM_004415.4(DSP):c.3742G>A (p.Asp1248Asn)
|
rs989348634
|
0.00001
|
NM_004415.4(DSP):c.3820G>A (p.Ala1274Thr)
|
rs1285435504
|
0.00001
|
NM_004415.4(DSP):c.3843C>T (p.Gly1281=)
|
rs757848395
|
0.00001
|
NM_004415.4(DSP):c.385C>T (p.Arg129Trp)
|
rs777763456
|
0.00001
|
NM_004415.4(DSP):c.3864G>A (p.Lys1288=)
|
rs768166626
|
0.00001
|
NM_004415.4(DSP):c.38C>T (p.Thr13Ile)
|
rs201133637
|
0.00001
|
NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn)
|
rs144465638
|
0.00001
|
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile)
|
rs530481219
|
0.00001
|
NM_004415.4(DSP):c.4118C>T (p.Thr1373Ile)
|
rs762930286
|
0.00001
|
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro)
|
rs751972271
|
0.00001
|
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn)
|
rs750607476
|
0.00001
|
NM_004415.4(DSP):c.4916T>G (p.Val1639Gly)
|
rs1304994640
|
0.00001
|
NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu)
|
rs786205416
|
0.00001
|
NM_004415.4(DSP):c.5123C>T (p.Ser1708Phe)
|
rs372452104
|
0.00001
|
NM_004415.4(DSP):c.5752G>A (p.Glu1918Lys)
|
rs1352220803
|
0.00001
|
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn)
|
rs759443302
|
0.00001
|
NM_004415.4(DSP):c.6002T>A (p.Val2001Glu)
|
rs926676669
|
0.00001
|
NM_004415.4(DSP):c.6141G>C (p.Met2047Ile)
|
rs374226658
|
0.00001
|
NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr)
|
rs377035113
|
0.00001
|
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys)
|
rs372242085
|
0.00001
|
NM_004415.4(DSP):c.6441C>A (p.Val2147=)
|
rs762513279
|
0.00001
|
NM_004415.4(DSP):c.664C>T (p.Arg222Trp)
|
rs1233981969
|
0.00001
|
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu)
|
rs759982048
|
0.00001
|
NM_004415.4(DSP):c.677A>G (p.Asn226Ser)
|
rs921332894
|
0.00001
|
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr)
|
rs772381363
|
0.00001
|
NM_004415.4(DSP):c.6947A>G (p.Tyr2316Cys)
|
rs765245807
|
0.00001
|
NM_004415.4(DSP):c.6956G>A (p.Gly2319Asp)
|
rs762943687
|
0.00001
|
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter)
|
rs1561703331
|
0.00001
|
NM_004415.4(DSP):c.7451A>G (p.Lys2484Arg)
|
rs1346398330
|
0.00001
|
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter)
|
rs1464253797
|
0.00001
|
NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys)
|
rs751712837
|
0.00001
|
NM_004415.4(DSP):c.7778T>G (p.Ile2593Ser)
|
rs563272509
|
0.00001
|
NM_004415.4(DSP):c.7783A>G (p.Thr2595Ala)
|
rs1170072296
|
0.00001
|
NM_004415.4(DSP):c.7784C>T (p.Thr2595Ile)
|
rs772951950
|
0.00001
|
NM_004415.4(DSP):c.7810A>G (p.Ile2604Val)
|
rs1301635888
|
0.00001
|
NM_004415.4(DSP):c.7855A>G (p.Ile2619Val)
|
rs767630308
|
0.00001
|
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met)
|
rs151309106
|
0.00001
|
NM_004415.4(DSP):c.8032G>A (p.Gly2678Ser)
|
rs1371748682
|
0.00001
|
NM_004415.4(DSP):c.8050A>G (p.Met2684Val)
|
rs147801650
|
0.00001
|
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp)
|
rs375348086
|
0.00001
|
NM_004415.4(DSP):c.8159A>T (p.Tyr2720Phe)
|
rs367972703
|
0.00001
|
NM_004415.4(DSP):c.8277C>T (p.Arg2759=)
|
rs1248664648
|
0.00001
|
NM_004415.4(DSP):c.8404C>T (p.Leu2802Phe)
|
rs201271117
|
0.00001
|
NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys)
|
rs139969658
|
0.00001
|
NM_004415.4(DSP):c.8498C>G (p.Ser2833Cys)
|
rs767961179
|
0.00001
|
NM_004415.4(DSP):c.8508A>G (p.Gly2836=)
|
rs754074127
|
0.00001
|
NM_004415.4(DSP):c.8511T>C (p.Ser2837=)
|
rs757475874
|
0.00001
|
NM_004415.4(DSP):c.8566T>A (p.Ser2856Thr)
|
rs148550678
|
0.00001
|
NM_004415.4(DSP):c.939+19G>T
|
rs777724973
|
0.00001
|
NM_004415.4(DSP):c.946A>G (p.Met316Val)
|
rs201672777
|
0.00001
|
NM_004415.4(DSP):c.976C>T (p.Leu326Phe)
|
rs117961973
|
0.00001
|
NM_004453.4(ETFDH):c.1004G>C (p.Ser335Thr)
|
rs770140708
|
0.00001
|
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr)
|
rs779253471
|
0.00001
|
NM_004453.4(ETFDH):c.1378G>A (p.Gly460Arg)
|
rs989125087
|
0.00001
|
NM_004453.4(ETFDH):c.1483C>T (p.Arg495Trp)
|
rs774810601
|
0.00001
|
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu)
|
rs200920510
|
0.00001
|
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg)
|
rs779896449
|
0.00001
|
NM_004453.4(ETFDH):c.586C>G (p.Pro196Ala)
|
rs201067972
|
0.00001
|
NM_004999.4(MYO6):c.2837G>A (p.Arg946His)
|
rs781754117
|
0.00001
|
NM_005159.5(ACTC1):c.1085A>C (p.Gln362Pro)
|
rs375435815
|
0.00001
|
NM_005159.5(ACTC1):c.129G>A (p.Gln43=)
|
rs878854753
|
0.00001
|
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)
|
rs193922680
|
0.00001
|
NM_005159.5(ACTC1):c.967G>A (p.Ala323Thr)
|
rs771011464
|
0.00001
|
NM_005343.4(HRAS):c.11A>G (p.Tyr4Cys)
|
rs764622691
|
0.00001
|
NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser)
|
rs1180561549
|
0.00001
|
NM_005572.4(LMNA):c.1715G>A (p.Arg572His)
|
rs1158300738
|
0.00001
|
NM_005633.4(SOS1):c.1075-16C>T
|
rs112540686
|
0.00001
|
NM_005633.4(SOS1):c.1266G>A (p.Met422Ile)
|
rs1212129369
|
0.00001
|
NM_005633.4(SOS1):c.1303A>G (p.Lys435Glu)
|
rs138920742
|
0.00001
|
NM_005633.4(SOS1):c.1564A>C (p.Asn522His)
|
rs761094509
|
0.00001
|
NM_005633.4(SOS1):c.1627T>C (p.Ser543Pro)
|
rs981234810
|
0.00001
|
NM_005633.4(SOS1):c.1640G>A (p.Arg547Gln)
|
rs149775695
|
0.00001
|
NM_005633.4(SOS1):c.1848T>C (p.His616=)
|
rs1344852617
|
0.00001
|
NM_005633.4(SOS1):c.1983A>G (p.Ile661Met)
|
rs747203627
|
0.00001
|
NM_005633.4(SOS1):c.2105A>G (p.Tyr702Cys)
|
rs757094189
|
0.00001
|
NM_005633.4(SOS1):c.213+9A>G
|
rs553097014
|
0.00001
|
NM_005633.4(SOS1):c.2158A>G (p.Thr720Ala)
|
rs367634525
|
0.00001
|
NM_005633.4(SOS1):c.2351T>C (p.Ile784Thr)
|
rs1335137808
|
0.00001
|
NM_005633.4(SOS1):c.2604T>C (p.Phe868=)
|
rs756520305
|
0.00001
|
NM_005633.4(SOS1):c.3197G>C (p.Ser1066Thr)
|
rs1428068201
|
0.00001
|
NM_005633.4(SOS1):c.3524A>C (p.His1175Pro)
|
rs730881035
|
0.00001
|
NM_005633.4(SOS1):c.3662G>C (p.Arg1221Thr)
|
rs768987761
|
0.00001
|
NM_005633.4(SOS1):c.3707C>T (p.Pro1236Leu)
|
rs533661246
|
0.00001
|
NM_005633.4(SOS1):c.3721A>G (p.Lys1241Glu)
|
rs367693130
|
0.00001
|
NM_005633.4(SOS1):c.3763C>A (p.Pro1255Thr)
|
rs972166211
|
0.00001
|
NM_005633.4(SOS1):c.3902A>G (p.His1301Arg)
|
rs771396497
|
0.00001
|
NM_005633.4(SOS1):c.3905T>C (p.Ile1302Thr)
|
rs750296853
|
0.00001
|
NM_005633.4(SOS1):c.638G>A (p.Arg213Gln)
|
rs374761537
|
0.00001
|
NM_005633.4(SOS1):c.643T>C (p.Tyr215His)
|
rs730881039
|
0.00001
|
NM_005633.4(SOS1):c.754A>C (p.Ile252Leu)
|
rs1158811958
|
0.00001
|
NM_005633.4(SOS1):c.984C>T (p.Gly328=)
|
rs778223456
|
0.00001
|
NM_006073.4(TRDN):c.1206A>T (p.Lys402Asn)
|
rs745563456
|
0.00001
|
NM_006073.4(TRDN):c.1283G>A (p.Arg428Gln)
|
rs371336992
|
0.00001
|
NM_006073.4(TRDN):c.1286C>A (p.Ala429Asp)
|
rs1297242196
|
0.00001
|
NM_006073.4(TRDN):c.1682T>A (p.Val561Asp)
|
rs947096255
|
0.00001
|
NM_006073.4(TRDN):c.1765C>A (p.Pro589Thr)
|
rs374035597
|
0.00001
|
NM_006073.4(TRDN):c.1766C>A (p.Pro589His)
|
rs371717903
|
0.00001
|
NM_006073.4(TRDN):c.17C>T (p.Ala6Val)
|
rs764897557
|
0.00001
|
NM_006073.4(TRDN):c.1954G>A (p.Glu652Lys)
|
rs1194412303
|
0.00001
|
NM_006073.4(TRDN):c.2176C>T (p.Gln726Ter)
|
rs1414689230
|
0.00001
|
NM_006073.4(TRDN):c.335A>T (p.Asp112Val)
|
rs772376488
|
0.00001
|
NM_006073.4(TRDN):c.502G>A (p.Glu168Lys)
|
rs545032318
|
0.00001
|
NM_006073.4(TRDN):c.604G>A (p.Ala202Thr)
|
rs1335196025
|
0.00001
|
NM_006206.6(PDGFRA):c.1658C>T (p.Pro553Leu)
|
rs1060501502
|
0.00001
|
NM_006206.6(PDGFRA):c.3200T>C (p.Ile1067Thr)
|
rs1346616192
|
0.00001
|
NM_006767.4(LZTR1):c.-38T>A
|
rs1459786357
|
0.00001
|
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)
|
rs797045165
|
0.00001
|
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr)
|
rs869025189
|
0.00001
|
NM_006912.6(RIT1):c.140C>T (p.Pro47Leu)
|
rs747376042
|
0.00001
|
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys)
|
rs375724784
|
0.00001
|
NM_006912.6(RIT1):c.575C>T (p.Ala192Val)
|
rs376391961
|
0.00001
|
NM_006939.4(SOS2):c.1747A>G (p.Asn583Asp)
|
rs1388854755
|
0.00001
|
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys)
|
rs772746106
|
0.00001
|
NM_007078.3(LDB3):c.-20C>T
|
rs531819676
|
0.00001
|
NM_007078.3(LDB3):c.1153A>G (p.Ser385Gly)
|
rs777547764
|
0.00001
|
NM_007078.3(LDB3):c.1211G>A (p.Arg404Gln)
|
rs150868546
|
0.00001
|
NM_007078.3(LDB3):c.13G>A (p.Val5Met)
|
rs773170985
|
0.00001
|
NM_007078.3(LDB3):c.1472T>A (p.Val491Glu)
|
rs139709036
|
0.00001
|
NM_007078.3(LDB3):c.1502C>T (p.Ala501Val)
|
rs755362259
|
0.00001
|
NM_007078.3(LDB3):c.1633A>G (p.Ser545Gly)
|
rs1370639524
|
0.00001
|
NM_007078.3(LDB3):c.1798C>T (p.Arg600Ter)
|
rs727503132
|
0.00001
|
NM_007078.3(LDB3):c.2037C>T (p.Gly679=)
|
rs754386652
|
0.00001
|
NM_007078.3(LDB3):c.236C>T (p.Thr79Ile)
|
rs397517221
|
0.00001
|
NM_007078.3(LDB3):c.328G>A (p.Ala110Thr)
|
rs768737496
|
0.00001
|
NM_007078.3(LDB3):c.343G>A (p.Gly115Ser)
|
rs397517222
|
0.00001
|
NM_007078.3(LDB3):c.443G>A (p.Arg148Gln)
|
rs751254270
|
0.00001
|
NM_007078.3(LDB3):c.54G>T (p.Gln18His)
|
rs149348427
|
0.00001
|
NM_007078.3(LDB3):c.716T>C (p.Val239Ala)
|
rs774595610
|
0.00001
|
NM_007078.3(LDB3):c.742G>A (p.Ala248Thr)
|
rs369419493
|
0.00001
|
NM_007078.3(LDB3):c.897-1_897del
|
rs1354084230
|
0.00001
|
NM_007078.3(LDB3):c.955G>A (p.Ala319Thr)
|
rs151219713
|
0.00001
|
NM_007373.4(SHOC2):c.1660A>G (p.Ser554Gly)
|
rs771053632
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_007373.4(SHOC2):c.619G>A (p.Val207Met)
|
rs998435032
|
0.00001
|
NM_014000.3(VCL):c.1046C>T (p.Ala349Val)
|
rs777709634
|
0.00001
|
NM_014000.3(VCL):c.1246C>T (p.Arg416Trp)
|
rs746004026
|
0.00001
|
NM_014000.3(VCL):c.1298G>A (p.Arg433His)
|
rs754046223
|
0.00001
|
NM_014000.3(VCL):c.1435C>T (p.Arg479Trp)
|
rs369055603
|
0.00001
|
NM_014000.3(VCL):c.1465G>A (p.Ala489Thr)
|
rs1449290312
|
0.00001
|
NM_014000.3(VCL):c.1503G>C (p.Gln501His)
|
rs1203105475
|
0.00001
|
NM_014000.3(VCL):c.1640G>A (p.Arg547Gln)
|
rs748044427
|
0.00001
|
NM_014000.3(VCL):c.1865G>A (p.Arg622Lys)
|
rs771590749
|
0.00001
|
NM_014000.3(VCL):c.2001G>A (p.Thr667=)
|
rs747424067
|
0.00001
|
NM_014000.3(VCL):c.2023-1G>C
|
rs1840093670
|
0.00001
|
NM_014000.3(VCL):c.2285G>A (p.Arg762Gln)
|
rs540039788
|
0.00001
|
NM_014000.3(VCL):c.2305A>G (p.Arg769Gly)
|
rs566257885
|
0.00001
|
NM_014000.3(VCL):c.238A>C (p.Lys80Gln)
|
rs775532257
|
0.00001
|
NM_014000.3(VCL):c.239+11G>A
|
rs918332199
|
0.00001
|
NM_014000.3(VCL):c.239+6T>G
|
rs752335603
|
0.00001
|
NM_014000.3(VCL):c.2528C>T (p.Pro843Leu)
|
rs764302249
|
0.00001
|
NM_014000.3(VCL):c.2558G>A (p.Arg853Gln)
|
rs992716111
|
0.00001
|
NM_014000.3(VCL):c.2807C>T (p.Ala936Val)
|
rs754681045
|
0.00001
|
NM_014000.3(VCL):c.2893C>T (p.Pro965Ser)
|
rs749236817
|
0.00001
|
NM_014000.3(VCL):c.2923C>T (p.Arg975Trp)
|
rs121917776
|
0.00001
|
NM_014000.3(VCL):c.2924G>A (p.Arg975Gln)
|
rs767325003
|
0.00001
|
NM_014000.3(VCL):c.313C>T (p.Arg105Ter)
|
rs397517239
|
0.00001
|
NM_014000.3(VCL):c.3381T>C (p.Val1127=)
|
rs943734765
|
0.00001
|
NM_014000.3(VCL):c.527A>G (p.Asp176Gly)
|
rs573623641
|
0.00001
|
NM_014000.3(VCL):c.550C>T (p.His184Tyr)
|
rs1321660809
|
0.00001
|
NM_014000.3(VCL):c.739G>A (p.Val247Met)
|
rs545372383
|
0.00001
|
NM_014000.3(VCL):c.844G>T (p.Gly282Cys)
|
rs766091503
|
0.00001
|
NM_014000.3(VCL):c.952C>T (p.Arg318Cys)
|
rs397517247
|
0.00001
|
NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe)
|
rs982668501
|
0.00001
|
NM_014908.4(DOLK):c.1594C>T (p.Leu532Phe)
|
rs140350881
|
0.00001
|
NM_014908.4(DOLK):c.292C>T (p.Arg98Trp)
|
rs747555089
|
0.00001
|
NM_014908.4(DOLK):c.581C>T (p.Ala194Val)
|
rs763132281
|
0.00001
|
NM_014908.4(DOLK):c.710T>C (p.Met237Thr)
|
rs201363976
|
0.00001
|
NM_014908.4(DOLK):c.719T>C (p.Phe240Ser)
|
rs765475110
|
0.00001
|
NM_014908.4(DOLK):c.725G>A (p.Ser242Asn)
|
rs876657786
|
0.00001
|
NM_014908.4(DOLK):c.908A>G (p.Tyr303Cys)
|
rs780974264
|
0.00001
|
NM_016203.4(PRKAG2):c.1238C>G (p.Ser413Cys)
|
rs758756757
|
0.00001
|
NM_016203.4(PRKAG2):c.1295C>T (p.Thr432Met)
|
rs760879406
|
0.00001
|
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn)
|
rs186114650
|
0.00001
|
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg)
|
rs727504337
|
0.00001
|
NM_016203.4(PRKAG2):c.187-3C>T
|
rs972389122
|
0.00001
|
NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu)
|
rs1041124171
|
0.00001
|
NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg)
|
rs779753891
|
0.00001
|
NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala)
|
rs775005432
|
0.00001
|
NM_016599.5(MYOZ2):c.11A>T (p.His4Leu)
|
rs376901669
|
0.00001
|
NM_016599.5(MYOZ2):c.181C>T (p.Arg61Cys)
|
rs755233280
|
0.00001
|
NM_016599.5(MYOZ2):c.343C>T (p.Arg115Ter)
|
rs374655743
|
0.00001
|
NM_016599.5(MYOZ2):c.666T>A (p.Phe222Leu)
|
rs201971682
|
0.00001
|
NM_020297.4(ABCC9):c.1012-2A>G
|
rs1345994016
|
0.00001
|
NM_020297.4(ABCC9):c.1129A>G (p.Ile377Val)
|
rs567016348
|
0.00001
|
NM_020297.4(ABCC9):c.1147C>T (p.Leu383Phe)
|
rs755542764
|
0.00001
|
NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His)
|
rs397517184
|
0.00001
|
NM_020297.4(ABCC9):c.1671C>A (p.Thr557=)
|
rs746467455
|
0.00001
|
NM_020297.4(ABCC9):c.1743G>A (p.Leu581=)
|
rs777049470
|
0.00001
|
NM_020297.4(ABCC9):c.1978C>T (p.Arg660Trp)
|
rs760889253
|
0.00001
|
NM_020297.4(ABCC9):c.2215C>G (p.Pro739Ala)
|
rs201223488
|
0.00001
|
NM_020297.4(ABCC9):c.2865A>T (p.Glu955Asp)
|
rs922212635
|
0.00001
|
NM_020297.4(ABCC9):c.395A>G (p.Lys132Arg)
|
rs727505161
|
0.00001
|
NM_020297.4(ABCC9):c.4189A>G (p.Ile1397Val)
|
rs1162169303
|
0.00001
|
NM_020297.4(ABCC9):c.5G>A (p.Ser2Asn)
|
rs1359649036
|
0.00001
|
NM_020433.5(JPH2):c.*15A>T
|
rs561604738
|
0.00001
|
NM_020433.5(JPH2):c.1292C>T (p.Pro431Leu)
|
rs1272859605
|
0.00001
|
NM_020433.5(JPH2):c.1394C>T (p.Pro465Leu)
|
rs908189174
|
0.00001
|
NM_020433.5(JPH2):c.1436G>T (p.Arg479Leu)
|
rs1229570054
|
0.00001
|
NM_020433.5(JPH2):c.1508A>G (p.Lys503Arg)
|
rs1457124939
|
0.00001
|
NM_020433.5(JPH2):c.1753C>T (p.Pro585Ser)
|
rs745760392
|
0.00001
|
NM_020433.5(JPH2):c.1982C>A (p.Ala661Glu)
|
rs1026714361
|
0.00001
|
NM_020433.5(JPH2):c.1990G>A (p.Ala664Thr)
|
rs886039086
|
0.00001
|
NM_020433.5(JPH2):c.226A>G (p.Thr76Ala)
|
rs764474492
|
0.00001
|
NM_020433.5(JPH2):c.277C>T (p.Arg93Cys)
|
rs747893109
|
0.00001
|
NM_020433.5(JPH2):c.278G>A (p.Arg93His)
|
rs1131692244
|
0.00001
|
NM_020433.5(JPH2):c.458T>C (p.Val153Ala)
|
rs776045429
|
0.00001
|
NM_020433.5(JPH2):c.515A>G (p.Asn172Ser)
|
rs1170915460
|
0.00001
|
NM_020433.5(JPH2):c.620A>G (p.Asn207Ser)
|
rs976272461
|
0.00001
|
NM_020433.5(JPH2):c.838G>A (p.Glu280Lys)
|
rs748282723
|
0.00001
|
NM_020433.5(JPH2):c.962A>G (p.Asn321Ser)
|
rs373731005
|
0.00001
|
NM_020774.4(MIB1):c.228C>G (p.Thr76=)
|
rs757518044
|
0.00001
|
NM_022114.4(PRDM16):c.1633G>A (p.Ala545Thr)
|
rs763268700
|
0.00001
|
NM_022114.4(PRDM16):c.1884C>T (p.Asp628=)
|
rs762491643
|
0.00001
|
NM_022114.4(PRDM16):c.2702T>C (p.Ile901Thr)
|
rs1482371535
|
0.00001
|
NM_022114.4(PRDM16):c.3281A>G (p.Lys1094Arg)
|
rs947863770
|
0.00001
|
NM_022114.4(PRDM16):c.3592C>A (p.Leu1198Ile)
|
rs778899500
|
0.00001
|
NM_022114.4(PRDM16):c.823G>A (p.Gly275Ser)
|
rs752636134
|
0.00001
|
NM_024334.3(TMEM43):c.1058T>C (p.Phe353Ser)
|
rs565997790
|
0.00001
|
NM_024334.3(TMEM43):c.1177C>T (p.Arg393Trp)
|
rs765762863
|
0.00001
|
NM_024334.3(TMEM43):c.182C>G (p.Ala61Gly)
|
rs1225730180
|
0.00001
|
NM_024334.3(TMEM43):c.244C>G (p.Pro82Ala)
|
rs148171303
|
0.00001
|
NM_024334.3(TMEM43):c.515C>T (p.Ala172Val)
|
rs553757132
|
0.00001
|
NM_024334.3(TMEM43):c.664G>A (p.Gly222Arg)
|
rs746183974
|
0.00001
|
NM_024334.3(TMEM43):c.700C>T (p.Pro234Ser)
|
rs374202326
|
0.00001
|
NM_024334.3(TMEM43):c.704A>C (p.Glu235Ala)
|
rs751419150
|
0.00001
|
NM_024334.3(TMEM43):c.734A>G (p.Tyr245Cys)
|
rs150478052
|
0.00001
|
NM_024334.3(TMEM43):c.90C>T (p.Ser30=)
|
rs373839281
|
0.00001
|
NM_024334.3(TMEM43):c.940G>C (p.Ala314Pro)
|
rs1431861933
|
0.00001
|
NM_024422.6(DSC2):c.1103C>T (p.Thr368Ile)
|
rs538663626
|
0.00001
|
NM_024422.6(DSC2):c.133G>A (p.Ala45Thr)
|
rs1467311353
|
0.00001
|
NM_024422.6(DSC2):c.1469G>A (p.Ser490Asn)
|
rs780446276
|
0.00001
|
NM_024422.6(DSC2):c.14G>T (p.Arg5Leu)
|
rs899009158
|
0.00001
|
NM_024422.6(DSC2):c.1579A>G (p.Ile527Val)
|
rs756058875
|
0.00001
|
NM_024422.6(DSC2):c.1693A>G (p.Ile565Val)
|
rs780712159
|
0.00001
|
NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala)
|
rs749174176
|
0.00001
|
NM_024422.6(DSC2):c.2334C>T (p.Asn778=)
|
rs1282599604
|
0.00001
|
NM_024422.6(DSC2):c.2353G>A (p.Glu785Lys)
|
rs752873618
|
0.00001
|
NM_024422.6(DSC2):c.2441C>T (p.Thr814Met)
|
rs756497616
|
0.00001
|
NM_024422.6(DSC2):c.2545C>T (p.His849Tyr)
|
rs1312909126
|
0.00001
|
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter)
|
rs727504823
|
0.00001
|
NM_024422.6(DSC2):c.325A>C (p.Ile109Leu)
|
rs1256252633
|
0.00001
|
NM_024422.6(DSC2):c.34_35del (p.Gly12fs)
|
rs1395367133
|
0.00001
|
NM_024422.6(DSC2):c.373A>G (p.Thr125Ala)
|
rs369061469
|
0.00001
|
NM_024422.6(DSC2):c.517A>T (p.Ile173Leu)
|
rs766855728
|
0.00001
|
NM_024422.6(DSC2):c.537C>A (p.Asp179Glu)
|
rs1987521149
|
0.00001
|
NM_030662.4(MAP2K2):c.247G>A (p.Gly83Ser)
|
rs765755554
|
0.00001
|
NM_032578.4(MYPN):c.1306G>A (p.Val436Met)
|
rs1172083148
|
0.00001
|
NM_032578.4(MYPN):c.1436C>G (p.Pro479Arg)
|
rs770366905
|
0.00001
|
NM_032578.4(MYPN):c.1452A>C (p.Leu484Phe)
|
rs749716693
|
0.00001
|
NM_032578.4(MYPN):c.1512G>T (p.Glu504Asp)
|
rs935247269
|
0.00001
|
NM_032578.4(MYPN):c.1771A>G (p.Ser591Gly)
|
rs767800921
|
0.00001
|
NM_032578.4(MYPN):c.1888G>A (p.Glu630Lys)
|
rs794729072
|
0.00001
|
NM_032578.4(MYPN):c.2095G>A (p.Ala699Thr)
|
rs1386715407
|
0.00001
|
NM_032578.4(MYPN):c.2464C>T (p.Arg822Trp)
|
rs529221329
|
0.00001
|
NM_032578.4(MYPN):c.2560T>A (p.Ser854Thr)
|
rs200432306
|
0.00001
|
NM_032578.4(MYPN):c.2693C>A (p.Pro898Gln)
|
rs771428473
|
0.00001
|
NM_032578.4(MYPN):c.2704-13G>A
|
rs1381527530
|
0.00001
|
NM_032578.4(MYPN):c.271G>A (p.Ala91Thr)
|
rs763043084
|
0.00001
|
NM_032578.4(MYPN):c.2834C>T (p.Pro945Leu)
|
rs1477487826
|
0.00001
|
NM_032578.4(MYPN):c.3017T>G (p.Ile1006Ser)
|
rs864622711
|
0.00001
|
NM_032578.4(MYPN):c.3040G>A (p.Asp1014Asn)
|
rs769591145
|
0.00001
|
NM_032578.4(MYPN):c.308A>T (p.Asp103Val)
|
rs758026056
|
0.00001
|
NM_032578.4(MYPN):c.3136A>C (p.Thr1046Pro)
|
rs374007615
|
0.00001
|
NM_032578.4(MYPN):c.3159-19A>C
|
rs754950593
|
0.00001
|
NM_032578.4(MYPN):c.3160G>A (p.Gly1054Arg)
|
rs900098416
|
0.00001
|
NM_032578.4(MYPN):c.3206G>A (p.Arg1069His)
|
rs763362861
|
0.00001
|
NM_032578.4(MYPN):c.325C>T (p.Pro109Ser)
|
rs748574829
|
0.00001
|
NM_032578.4(MYPN):c.3379G>A (p.Gly1127Arg)
|
rs752302519
|
0.00001
|
NM_032578.4(MYPN):c.3457G>A (p.Gly1153Arg)
|
rs763805681
|
0.00001
|
NM_032578.4(MYPN):c.3623A>G (p.Asp1208Gly)
|
rs2043722325
|
0.00001
|
NM_032578.4(MYPN):c.3853G>A (p.Gly1285Arg)
|
rs750277122
|
0.00001
|
NM_032578.4(MYPN):c.3923C>T (p.Ser1308Leu)
|
rs781048271
|
0.00001
|
NM_032578.4(MYPN):c.712G>A (p.Ala238Thr)
|
rs755212697
|
0.00001
|
NM_032578.4(MYPN):c.844G>A (p.Glu282Lys)
|
rs1265232754
|
0.00001
|
NM_032578.4(MYPN):c.895C>A (p.Gln299Lys)
|
rs1299051222
|
0.00001
|
NM_033118.4(MYLK2):c.1019G>A (p.Arg340His)
|
rs770590365
|
0.00001
|
NM_033118.4(MYLK2):c.116C>T (p.Pro39Leu)
|
rs786205283
|
0.00001
|
NM_033118.4(MYLK2):c.1645C>T (p.Arg549Cys)
|
rs540151040
|
0.00001
|
NM_033337.3(CAV3):c.143C>G (p.Pro48Arg)
|
rs1060502317
|
0.00001
|
NM_033337.3(CAV3):c.221G>A (p.Arg74His)
|
rs201893621
|
0.00001
|
NM_033337.3(CAV3):c.247C>T (p.Pro83Ser)
|
rs137881434
|
0.00001
|
NM_033337.3(CAV3):c.310G>A (p.Val104Met)
|
rs944503745
|
0.00001
|
NM_033337.3(CAV3):c.310G>C (p.Val104Leu)
|
rs944503745
|
0.00001
|
NM_033337.3(CAV3):c.60G>A (p.Lys20=)
|
rs972788554
|
0.00001
|
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln)
|
rs116840778
|
0.00001
|
NM_133379.5(TTN):c.10546T>A (p.Leu3516Ile)
|
rs139322919
|
0.00001
|
NM_133379.5(TTN):c.11360del (p.Glu3787fs)
|
rs1309605744
|
0.00001
|
NM_133379.5(TTN):c.11834C>T (p.Ser3945Leu)
|
rs200512885
|
0.00001
|
NM_133379.5(TTN):c.14139C>T (p.Asp4713=)
|
rs371388583
|
0.00001
|
NM_133379.5(TTN):c.16353C>G (p.Tyr5451Ter)
|
rs397517821
|
0.00001
|
NM_133379.5(TTN):c.16529del (p.Val5510fs)
|
rs774991940
|
0.00001
|
NM_144573.4(NEXN):c.1171C>T (p.Arg391Ter)
|
rs200106758
|
0.00001
|
NM_144573.4(NEXN):c.1222T>C (p.Phe408Leu)
|
rs794729083
|
0.00001
|
NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile)
|
rs200442502
|
0.00001
|
NM_144573.4(NEXN):c.1413A>G (p.Arg471=)
|
rs780858511
|
0.00001
|
NM_144573.4(NEXN):c.1415C>G (p.Ala472Gly)
|
rs539665448
|
0.00001
|
NM_144573.4(NEXN):c.1609_1610insA (p.Leu537fs)
|
rs779350415
|
0.00001
|
NM_144573.4(NEXN):c.1805C>T (p.Thr602Met)
|
rs756709134
|
0.00001
|
NM_144573.4(NEXN):c.328G>C (p.Glu110Gln)
|
rs754671609
|
0.00001
|
NM_144573.4(NEXN):c.364G>C (p.Glu122Gln)
|
rs748518328
|
0.00001
|
NM_144573.4(NEXN):c.421C>T (p.Arg141Cys)
|
rs536537549
|
0.00001
|
NM_144573.4(NEXN):c.620A>G (p.Asp207Gly)
|
rs570946423
|
0.00001
|
NM_144573.4(NEXN):c.671G>A (p.Cys224Tyr)
|
rs886046534
|
0.00001
|
NM_144573.4(NEXN):c.688-1G>C
|
rs761030548
|
0.00001
|
NM_144573.4(NEXN):c.772A>G (p.Arg258Gly)
|
rs1308264799
|
0.00001
|
NM_144573.4(NEXN):c.906T>A (p.Phe302Leu)
|
rs767740199
|
0.00001
|
NM_144573.4(NEXN):c.916C>T (p.Arg306Cys)
|
rs765051104
|
0.00001
|
NM_152594.3(SPRED1):c.6C>A (p.Ser2Arg)
|
rs775693385
|
0.00001
|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
|
rs386134243
|
0.00001
|
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)
|
rs749784223
|
0.00001
|
NM_170707.4(LMNA):c.1044G>T (p.Met348Ile)
|
rs587777892
|
0.00001
|
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)
|
rs267607555
|
0.00001
|
NM_170707.4(LMNA):c.1155G>A (p.Glu385=)
|
rs878855232
|
0.00001
|
NM_170707.4(LMNA):c.1157+19G>A
|
rs757715731
|
0.00001
|
NM_170707.4(LMNA):c.1184C>T (p.Ser395Leu)
|
rs267607561
|
0.00001
|
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys)
|
rs727504852
|
0.00001
|
NM_170707.4(LMNA):c.1280G>A (p.Arg427His)
|
rs747139279
|
0.00001
|
NM_170707.4(LMNA):c.1282A>G (p.Ser428Gly)
|
rs1651628416
|
0.00001
|
NM_170707.4(LMNA):c.12G>A (p.Pro4=)
|
rs369823958
|
0.00001
|
NM_170707.4(LMNA):c.1300G>A (p.Ala434Thr)
|
rs748433620
|
0.00001
|
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala)
|
rs876657849
|
0.00001
|
NM_170707.4(LMNA):c.1363C>T (p.Arg455Cys)
|
rs397517892
|
0.00001
|
NM_170707.4(LMNA):c.1364G>A (p.Arg455His)
|
rs267607597
|
0.00001
|
NM_170707.4(LMNA):c.1381G>T (p.Asp461Tyr)
|
rs267607642
|
0.00001
|
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)
|
rs57920071
|
0.00001
|
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)
|
rs11575937
|
0.00001
|
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)
|
rs200466188
|
0.00001
|
NM_170707.4(LMNA):c.153G>T (p.Ser51=)
|
rs751886390
|
0.00001
|
NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser)
|
rs144740174
|
0.00001
|
NM_170707.4(LMNA):c.1662G>A (p.Glu554=)
|
rs201936898
|
0.00001
|
NM_170707.4(LMNA):c.1699-9C>T
|
rs776616872
|
0.00001
|
NM_170707.4(LMNA):c.1731T>C (p.Ala577=)
|
rs776066211
|
0.00001
|
NM_170707.4(LMNA):c.1750C>T (p.Arg584Cys)
|
rs578193315
|
0.00001
|
NM_170707.4(LMNA):c.1751G>A (p.Arg584His)
|
rs56657623
|
0.00001
|
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg)
|
rs786205448
|
0.00001
|
NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg)
|
rs397517898
|
0.00001
|
NM_170707.4(LMNA):c.187A>C (p.Ile63Leu)
|
rs899373360
|
0.00001
|
NM_170707.4(LMNA):c.1880G>A (p.Arg627His)
|
rs745997478
|
0.00001
|
NM_170707.4(LMNA):c.1891G>A (p.Gly631Ser)
|
rs951584348
|
0.00001
|
NM_170707.4(LMNA):c.293A>G (p.Glu98Gly)
|
rs1441670218
|
0.00001
|
NM_170707.4(LMNA):c.369G>A (p.Lys123=)
|
rs367938270
|
0.00001
|
NM_170707.4(LMNA):c.466C>T (p.Arg156Cys)
|
rs760743233
|
0.00001
|
NM_170707.4(LMNA):c.496C>T (p.Arg166Trp)
|
rs370200334
|
0.00001
|
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp)
|
rs267607626
|
0.00001
|
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu)
|
rs1016767319
|
0.00001
|
NM_170707.4(LMNA):c.71C>T (p.Thr24Ile)
|
rs1195524446
|
0.00001
|
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)
|
rs397517907
|
0.00001
|
NM_170707.4(LMNA):c.845G>A (p.Ser282Asn)
|
rs1553265438
|
0.00001
|
NM_170707.4(LMNA):c.96G>A (p.Lys32=)
|
rs775429079
|
0.00001
|
NM_182914.3(SYNE2):c.9284A>G (p.Lys3095Arg)
|
rs771325522
|
0.00001
|
NM_182961.4(SYNE1):c.11179A>C (p.Asn3727His)
|
rs758415122
|
0.00001
|
NM_182961.4(SYNE1):c.19640G>A (p.Gly6547Asp)
|
rs766241487
|
0.00001
|
NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=)
|
rs370421580
|
0.00001
|
NM_182961.4(SYNE1):c.3131G>A (p.Arg1044Gln)
|
rs199888697
|
0.00001
|
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val)
|
rs566004273
|
0.00001
|
NM_206937.2(LIG4):c.524T>C (p.Ile175Thr)
|
rs373262036
|
0.00001
|
NM_206937.2(LIG4):c.560T>C (p.Ile187Thr)
|
rs199854013
|
0.00001
|
NC_012920.1(MT-CYB):m.15437G>A
|
rs878853058
|
|
NC_012920.1:m.11360A>G
|
rs878928689
|
|
NC_012920.1:m.11778G>A
|
rs199476112
|
|
NC_012920.1:m.3243A>G
|
rs199474657
|
|
NM_000018.4(ACADVL):c.1022G>C (p.Arg341Thr)
|
rs1064793382
|
|
NM_000018.4(ACADVL):c.1147C>G (p.Leu383Val)
|
rs756194870
|
|
NM_000018.4(ACADVL):c.1941G>A (p.Val647=)
|
rs2142991254
|
|
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe)
|
rs1161495077
|
|
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)
|
rs387906251
|
|
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys)
|
rs1432183079
|
|
NM_000018.4(ACADVL):c.65C>G (p.Ser22Trp)
|
rs727503788
|
|
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)
|
rs1555528304
|
|
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro)
|
rs63751223
|
|
NM_000021.4(PSEN1):c.488A>G (p.His163Arg)
|
rs63750590
|
|
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr)
|
rs63749836
|
|
NM_000023.4(SGCA):c.13C>G (p.Leu5Val)
|
rs2144488329
|
|
NM_000023.4(SGCA):c.541C>T (p.Arg181Cys)
|
rs574376340
|
|
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)
|
rs200166783
|
|
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)
|
rs782507902
|
|
NM_000117.3(EMD):c.449+4C>T
|
rs886044810
|
|
NM_000117.3(EMD):c.460A>G (p.Met154Val)
|
rs782806462
|
|
NM_000117.3(EMD):c.500A>G (p.Tyr167Cys)
|
rs2067884177
|
|
NM_000126.4(ETFA):c.963+1del
|
rs746488455
|
|
NM_000152.5(GAA):c.*313C>G
|
rs926145648
|
|
NM_000152.5(GAA):c.1051del (p.Val351fs)
|
rs786204507
|
|
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter)
|
rs1064796703
|
|
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu)
|
rs142752477
|
|
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr)
|
rs377233099
|
|
NM_000152.5(GAA):c.1143del (p.Ala382fs)
|
rs757458607
|
|
NM_000152.5(GAA):c.1193del (p.Leu398fs)
|
rs1057517286
|
|
NM_000152.5(GAA):c.1219T>C (p.Tyr407His)
|
rs727503939
|
|
NM_000152.5(GAA):c.138C>G (p.Ser46=)
|
rs753375900
|
|
NM_000152.5(GAA):c.1408_1410del (p.Asn470del)
|
rs748893499
|
|
NM_000152.5(GAA):c.1437+15C>T
|
rs2143867420
|
|
NM_000152.5(GAA):c.1438-1G>C
|
rs147804176
|
|
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg)
|
rs2039212985
|
|
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn)
|
rs398123169
|
|
NM_000152.5(GAA):c.1498G>A (p.Glu500Lys)
|
rs1473805095
|
|
NM_000152.5(GAA):c.1551+1G>C
|
rs770780848
|
|
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala)
|
rs892129065
|
|
NM_000152.5(GAA):c.1601C>T (p.Pro534Leu)
|
rs1039935633
|
|
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met)
|
rs1598582152
|
|
NM_000152.5(GAA):c.1637-10C>T
|
rs2143881993
|
|
NM_000152.5(GAA):c.1650dup (p.Thr551fs)
|
rs766398206
|
|
NM_000152.5(GAA):c.1658A>G (p.Gln553Arg)
|
rs746401921
|
|
NM_000152.5(GAA):c.169C>T (p.Gln57Ter)
|
rs1057516251
|
|
NM_000152.5(GAA):c.1823G>T (p.Arg608Leu)
|
rs377126280
|
|
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)
|
rs369531647
|
|
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn)
|
rs368438393
|
|
NM_000152.5(GAA):c.1941C>T (p.Cys647=)
|
rs776948121
|
|
NM_000152.5(GAA):c.2043C>A (p.Pro681=)
|
rs764174168
|
|
NM_000152.5(GAA):c.2093C>T (p.Ala698Val)
|
rs1001458871
|
|
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr)
|
rs375681364
|
|
NM_000152.5(GAA):c.2110G>T (p.Ala704Ser)
|
rs375681364
|
|
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr)
|
rs143324027
|
|
NM_000152.5(GAA):c.2210C>A (p.Thr737Asn)
|
rs1381005435
|
|
NM_000152.5(GAA):c.2219_2220del (p.Val740fs)
|
rs2039364779
|
|
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter)
|
rs752921215
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000152.5(GAA):c.2289G>A (p.Val763=)
|
rs767871949
|
|
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser)
|
rs144016984
|
|
NM_000152.5(GAA):c.2306T>C (p.Leu769Ser)
|
rs2039369551
|
|
NM_000152.5(GAA):c.2330_2331+4dup
|
rs762245732
|
|
NM_000152.5(GAA):c.2332-16C>T
|
rs2039383167
|
|
NM_000152.5(GAA):c.2338G>C (p.Val780Leu)
|
rs1126690
|
|
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser)
|
rs776111131
|
|
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs)
|
rs886043343
|
|
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp)
|
rs771259598
|
|
NM_000152.5(GAA):c.258dup (p.Asn87fs)
|
rs761317813
|
|
NM_000152.5(GAA):c.276C>A (p.Cys92Ter)
|
rs1232001857
|
|
NM_000152.5(GAA):c.310G>A (p.Glu104Lys)
|
rs201902338
|
|
NM_000152.5(GAA):c.4G>T (p.Gly2Ter)
|
rs1567825175
|
|
NM_000152.5(GAA):c.545C>T (p.Thr182Met)
|
rs200524747
|
|
NM_000152.5(GAA):c.546G>C (p.Thr182=)
|
rs143523371
|
|
NM_000152.5(GAA):c.569G>A (p.Arg190His)
|
rs528367092
|
|
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter)
|
rs376229714
|
|
NM_000152.5(GAA):c.688G>A (p.Val230Met)
|
rs145866792
|
|
NM_000152.5(GAA):c.688G>C (p.Val230Leu)
|
rs145866792
|
|
NM_000152.5(GAA):c.711_712dup (p.Pro238fs)
|
rs1555599586
|
|
NM_000152.5(GAA):c.725C>T (p.Ala242Val)
|
rs745861849
|
|
NM_000152.5(GAA):c.858+10C>T
|
rs758283022
|
|
NM_000152.5(GAA):c.858+8_858+10delinsAGCGGGCGGT
|
rs1555599729
|
|
NM_000152.5(GAA):c.883C>A (p.His295Asn)
|
rs751639773
|
|
NM_000152.5(GAA):c.956-3C>T
|
rs1421879461
|
|
NM_000157.4(GBA1):c.*92G>A
|
|
|
NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser)
|
rs1553217294
|
|
NM_000157.4(GBA1):c.10T>C (p.Ser4Pro)
|
rs2148083300
|
|
NM_000157.4(GBA1):c.1192C>T (p.Arg398Ter)
|
rs121908309
|
|
NM_000157.4(GBA1):c.1249T>G (p.Trp417Gly)
|
rs1450426641
|
|
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs)
|
rs80356768
|
|
NM_000157.4(GBA1):c.1388G>C (p.Ser463Thr)
|
rs1571965884
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
NM_000157.4(GBA1):c.1506-10_1506-9delinsGA
|
rs1557900564
|
|
NM_000157.4(GBA1):c.203dup (p.Thr69fs)
|
rs1170895261
|
|
NM_000157.4(GBA1):c.661C>A (p.Pro221Thr)
|
rs866075757
|
|
NM_000157.4(GBA1):c.914del (p.Pro305fs)
|
rs1366567865
|
|
NM_000182.5(HADHA):c.1059del (p.Lys353fs)
|
rs1227493628
|
|
NM_000182.5(HADHA):c.157C>A (p.Arg53=)
|
rs147103714
|
|
NM_000182.5(HADHA):c.1969G>T (p.Ala657Ser)
|
rs374174659
|
|
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)
|
rs749848370
|
|
NM_000182.5(HADHA):c.2273_2276dup (p.Lys760fs)
|
rs1553311633
|
|
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn)
|
rs137852774
|
|
NM_000182.5(HADHA):c.966_967del (p.Cys322_Glu323delinsTer)
|
rs2147768516
|
|
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)
|
rs931627770
|
|
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg)
|
rs375819348
|
|
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu)
|
rs1421520718
|
|
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)
|
rs121965025
|
|
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter)
|
rs1456090810
|
|
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del)
|
rs774605197
|
|
NM_000203.5(IDUA):c.784del (p.His262fs)
|
rs757928590
|
|
NM_000218.3(KCNQ1):c.-69G>A
|
rs886048159
|
|
NM_000218.3(KCNQ1):c.1014CTT[1] (p.Phe340del)
|
rs397508068
|
|
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)
|
rs397508075
|
|
NM_000218.3(KCNQ1):c.1150G>A (p.Ala384Thr)
|
rs1848610150
|
|
NM_000218.3(KCNQ1):c.1177A>G (p.Lys393Glu)
|
rs1848611273
|
|
NM_000218.3(KCNQ1):c.1193A>G (p.Lys398Arg)
|
rs199472777
|
|
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs)
|
rs397508083
|
|
NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs)
|
rs397508087
|
|
NM_000218.3(KCNQ1):c.1349A>G (p.Glu450Gly)
|
rs1057518902
|
|
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)
|
rs199472804
|
|
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg)
|
rs199472807
|
|
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)
|
rs397508103
|
|
NM_000218.3(KCNQ1):c.1906dup (p.Ala636fs)
|
rs1464992494
|
|
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs)
|
rs1435990592
|
|
NM_000218.3(KCNQ1):c.202GCCGCGCCC[1] (p.68AAP[1])
|
rs397508107
|
|
NM_000218.3(KCNQ1):c.202GCCGCGCCC[3] (p.68AAP[3])
|
rs397508107
|
|
NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg)
|
rs370435862
|
|
NM_000218.3(KCNQ1):c.397G>A (p.Val133Ile)
|
rs199473449
|
|
NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter)
|
rs139042529
|
|
NM_000218.3(KCNQ1):c.796del (p.Leu266fs)
|
rs397508125
|
|
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)
|
rs199473460
|
|
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser)
|
rs120074193
|
|
NM_000218.3(KCNQ1):c.860C>T (p.Ala287Val)
|
rs199472735
|
|
NM_000218.3(KCNQ1):c.921+1G>T
|
rs397508130
|
|
NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs)
|
rs397508134
|
|
NM_000231.3(SGCG):c.195+4_195+7del
|
rs797045106
|
|
NM_000231.3(SGCG):c.496C>T (p.Arg166Ter)
|
rs1881219252
|
|
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter)
|
rs1881865054
|
|
NM_000231.3(SGCG):c.525del (p.Phe175fs)
|
rs786204786
|
|
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)
|
rs104894422
|
|
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs)
|
rs1207685911
|
|
NM_000232.5(SGCB):c.12GGC[5] (p.Ala9dup)
|
rs768838951
|
|
NM_000232.5(SGCB):c.567dup (p.His190fs)
|
rs1263020044
|
|
NM_000232.5(SGCB):c.656_657del (p.Lys219fs)
|
rs775458201
|
|
NM_000256.3(MYBPC3):c.1167C>G (p.Asp389Glu)
|
rs1292522713
|
|
NM_000256.3(MYBPC3):c.1219G>C (p.Gly407Arg)
|
rs727505266
|
|
NM_000256.3(MYBPC3):c.1224-19G>A
|
rs587776699
|
|
NM_000256.3(MYBPC3):c.1238A>G (p.Glu413Gly)
|
rs730880532
|
|
NM_000256.3(MYBPC3):c.1351+2T>C
|
rs397515897
|
|
NM_000256.3(MYBPC3):c.1355C>A (p.Pro452His)
|
rs730880536
|
|
NM_000256.3(MYBPC3):c.1386C>A (p.Asp462Glu)
|
rs1213818614
|
|
NM_000256.3(MYBPC3):c.13G>T (p.Gly5Trp)
|
rs201278114
|
|
NM_000256.3(MYBPC3):c.1521G>A (p.Gly507=)
|
rs1235816440
|
|
NM_000256.3(MYBPC3):c.1578A>G (p.Ala526=)
|
rs766721220
|
|
NM_000256.3(MYBPC3):c.1624+13G>A
|
rs397515913
|
|
NM_000256.3(MYBPC3):c.1720C>T (p.Arg574Trp)
|
rs61897383
|
|
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn)
|
rs371564200
|
|
NM_000256.3(MYBPC3):c.1928-2A>G
|
rs397515937
|
|
NM_000256.3(MYBPC3):c.1961G>A (p.Arg654His)
|
rs1800565
|
|
NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs)
|
rs727503192
|
|
NM_000256.3(MYBPC3):c.2063C>T (p.Thr688Met)
|
rs3729946
|
|
NM_000256.3(MYBPC3):c.2077G>T (p.Ala693Ser)
|
rs771753579
|
|
NM_000256.3(MYBPC3):c.2198G>T (p.Arg733Leu)
|
rs534345197
|
|
NM_000256.3(MYBPC3):c.2309-2A>G
|
rs111729952
|
|
NM_000256.3(MYBPC3):c.238G>A (p.Ala80Thr)
|
rs730880700
|
|
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp)
|
rs727503188
|
|
NM_000256.3(MYBPC3):c.2511del (p.Ile837fs)
|
rs730880653
|
|
NM_000256.3(MYBPC3):c.2527G>A (p.Glu843Lys)
|
rs730880567
|
|
NM_000256.3(MYBPC3):c.2543C>G (p.Ala848Gly)
|
rs730880569
|
|
NM_000256.3(MYBPC3):c.2543C>T (p.Ala848Val)
|
rs730880569
|
|
NM_000256.3(MYBPC3):c.2602G>A (p.Gly868Ser)
|
rs775890771
|
|
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His)
|
rs371401403
|
|
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu)
|
rs371401403
|
|
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)
|
rs397515982
|
|
NM_000256.3(MYBPC3):c.2708G>A (p.Gly903Asp)
|
rs1007623141
|
|
NM_000256.3(MYBPC3):c.2784G>A (p.Ser928=)
|
rs372510974
|
|
NM_000256.3(MYBPC3):c.2788C>G (p.Leu930Val)
|
rs1399854518
|
|
NM_000256.3(MYBPC3):c.2816G>C (p.Arg939Pro)
|
rs946763177
|
|
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)
|
rs397515992
|
|
NM_000256.3(MYBPC3):c.3224C>G (p.Thr1075Ser)
|
rs150786409
|
|
NM_000256.3(MYBPC3):c.3326C>A (p.Thr1109Asn)
|
rs397516016
|
|
NM_000256.3(MYBPC3):c.3330+5G>C
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.3340A>G (p.Thr1114Ala)
|
rs1595841329
|
|
NM_000256.3(MYBPC3):c.372C>A (p.Ala124=)
|
rs11570046
|
|
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)
|
rs193922384
|
|
NM_000256.3(MYBPC3):c.3791G>A (p.Cys1264Tyr)
|
rs397514751
|
|
NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr)
|
rs397516041
|
|
NM_000256.3(MYBPC3):c.407-1G>A
|
rs185449721
|
|
NM_000256.3(MYBPC3):c.450C>G (p.Pro150=)
|
rs377520770
|
|
NM_000256.3(MYBPC3):c.459del (p.Ile154fs)
|
rs397516052
|
|
NM_000256.3(MYBPC3):c.592G>A (p.Asp198Asn)
|
rs2095898499
|
|
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)
|
rs397516068
|
|
NM_000256.3(MYBPC3):c.721G>A (p.Val241Met)
|
rs886039000
|
|
NM_000256.3(MYBPC3):c.727A>C (p.Thr243Pro)
|
rs730880625
|
|
NM_000256.3(MYBPC3):c.821+6T>C
|
rs2095895947
|
|
NM_000256.3(MYBPC3):c.884del (p.Phe295fs)
|
rs730880684
|
|
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)
|
rs397516080
|
|
NM_000256.3(MYBPC3):c.932C>T (p.Ser311Leu)
|
rs193922386
|
|
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)
|
rs3218714
|
|
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)
|
rs121913624
|
|
NM_000257.4(MYH7):c.1432A>G (p.Ile478Val)
|
rs730880873
|
|
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)
|
rs397516127
|
|
NM_000257.4(MYH7):c.2053del (p.Asp685fs)
|
rs1566532860
|
|
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)
|
rs121913632
|
|
NM_000257.4(MYH7):c.2224G>A (p.Ala742Thr)
|
rs769396106
|
|
NM_000257.4(MYH7):c.2551T>A (p.Ser851Thr)
|
rs2138665874
|
|
NM_000257.4(MYH7):c.2582A>G (p.Glu861Gly)
|
rs1236517740
|
|
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu)
|
rs730880749
|
|
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys)
|
rs138049878
|
|
NM_000257.4(MYH7):c.2731A>T (p.Asn911Tyr)
|
rs1566530777
|
|
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)
|
rs121913628
|
|
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln)
|
rs397516171
|
|
NM_000257.4(MYH7):c.2819A>T (p.Lys940Met)
|
rs1892589863
|
|
NM_000257.4(MYH7):c.2843C>T (p.Ser948Leu)
|
rs1350140484
|
|
NM_000257.4(MYH7):c.2923-6C>A
|
rs587781082
|
|
NM_000257.4(MYH7):c.3013C>G (p.Gln1005Glu)
|
rs1892572355
|
|
NM_000257.4(MYH7):c.3107G>A (p.Gly1036Glu)
|
rs1000681552
|
|
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)
|
rs397516178
|
|
NM_000257.4(MYH7):c.3137T>G (p.Met1046Arg)
|
rs763760498
|
|
NM_000257.4(MYH7):c.3177G>T (p.Leu1059=)
|
rs746453011
|
|
NM_000257.4(MYH7):c.3184A>T (p.Thr1062Ser)
|
rs1555337299
|
|
NM_000257.4(MYH7):c.3229G>T (p.Asp1077Tyr)
|
rs759256990
|
|
NM_000257.4(MYH7):c.3237G>C (p.Arg1079=)
|
rs1272236852
|
|
NM_000257.4(MYH7):c.3294G>T (p.Gln1098His)
|
rs375323916
|
|
NM_000257.4(MYH7):c.3324C>T (p.Leu1108=)
|
rs933857323
|
|
NM_000257.4(MYH7):c.3337-2_3337delinsCAGA
|
rs1892420744
|
|
NM_000257.4(MYH7):c.341T>C (p.Ile114Thr)
|
rs730880833
|
|
NM_000257.4(MYH7):c.3620T>A (p.Ile1207Asn)
|
rs730880780
|
|
NM_000257.4(MYH7):c.3942C>T (p.Asp1314=)
|
rs921429381
|
|
NM_000257.4(MYH7):c.396G>T (p.Pro132=)
|
rs138932714
|
|
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys)
|
rs141764279
|
|
NM_000257.4(MYH7):c.4030C>T (p.Arg1344Trp)
|
rs727504352
|
|
NM_000257.4(MYH7):c.4188G>T (p.Arg1396=)
|
rs200852418
|
|
NM_000257.4(MYH7):c.4251C>G (p.Thr1417=)
|
rs763934978
|
|
NM_000257.4(MYH7):c.4461C>G (p.Ala1487=)
|
rs2138645345
|
|
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp)
|
rs45544633
|
|
NM_000257.4(MYH7):c.4567A>G (p.Ile1523Val)
|
rs1555336580
|
|
NM_000257.4(MYH7):c.4643A>T (p.Glu1548Val)
|
rs730880804
|
|
NM_000257.4(MYH7):c.4644+5G>C
|
rs730880797
|
|
NM_000257.4(MYH7):c.4756G>A (p.Ala1586Thr)
|
rs1595073523
|
|
NM_000257.4(MYH7):c.4819A>G (p.Ser1607Gly)
|
rs1892196940
|
|
NM_000257.4(MYH7):c.4834C>G (p.Leu1612Val)
|
rs397516229
|
|
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His)
|
rs545875689
|
|
NM_000257.4(MYH7):c.4953+13A>T
|
rs373509029
|
|
NM_000257.4(MYH7):c.4953+4C>T
|
rs933520031
|
|
NM_000257.4(MYH7):c.4979C>A (p.Ala1660Glu)
|
rs1006534868
|
|
NM_000257.4(MYH7):c.5192A>T (p.Asp1731Val)
|
rs397516240
|
|
NM_000257.4(MYH7):c.5458C>G (p.Arg1820Gly)
|
rs145734640
|
|
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp)
|
rs145734640
|
|
NM_000257.4(MYH7):c.5470_5471delinsGG (p.Asn1824Gly)
|
rs1595071680
|
|
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys)
|
rs201865159
|
|
NM_000257.4(MYH7):c.5533C>A (p.Arg1845=)
|
rs28933098
|
|
NM_000257.4(MYH7):c.5638C>T (p.Arg1880Cys)
|
rs1057522617
|
|
NM_000257.4(MYH7):c.5672C>T (p.Thr1891Ile)
|
rs2138635423
|
|
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)
|
rs397516264
|
|
NM_000257.4(MYH7):c.745C>T (p.Arg249Ter)
|
rs730880852
|
|
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)
|
rs3218713
|
|
NM_000257.4(MYH7):c.80A>G (p.Gln27Arg)
|
rs878853843
|
|
NM_000257.4(MYH7):c.899T>C (p.Met300Thr)
|
rs1892892787
|
|
NM_000257.4(MYH7):c.936C>A (p.Phe312Leu)
|
rs771522982
|
|
NM_000257.4(MYH7):c.976G>A (p.Ala326Thr)
|
rs372731424
|
|
NM_000257.4(MYH7):c.985C>T (p.Leu329Phe)
|
rs1566536367
|
|
NM_000257.4(MYH7):c.9T>G (p.Asp3Glu)
|
rs1893043424
|
|
NM_000258.3(MYL3):c.*13G>A
|
|
|
NM_000258.3(MYL3):c.158-2A>G
|
rs1701985013
|
|
NM_000258.3(MYL3):c.158-3C>G
|
rs111668273
|
|
NM_000258.3(MYL3):c.170C>T (p.Ala57Val)
|
rs139794067
|
|
NM_000258.3(MYL3):c.1_2delinsG (p.Met1fs)
|
rs1702012642
|
|
NM_000258.3(MYL3):c.308-3C>T
|
rs112911997
|
|
NM_000258.3(MYL3):c.449G>A (p.Gly150Asp)
|
rs1085307526
|
|
NM_000258.3(MYL3):c.79C>G (p.Pro27Ala)
|
rs1248338056
|
|
NM_000335.5(SCN5A):c.1037A>G (p.Glu346Gly)
|
rs780735882
|
|
NM_000335.5(SCN5A):c.1385A>C (p.Glu462Ala)
|
rs199473114
|
|
NM_000335.5(SCN5A):c.1388T>G (p.Met463Arg)
|
rs761628195
|
|
NM_000335.5(SCN5A):c.1457C>G (p.Thr486Ser)
|
rs1274970281
|
|
NM_000335.5(SCN5A):c.1498G>A (p.Glu500Lys)
|
rs1060501148
|
|
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile)
|
rs199473118
|
|
NM_000335.5(SCN5A):c.1613G>T (p.Gly538Val)
|
rs779486899
|
|
NM_000335.5(SCN5A):c.168G>A (p.Leu56=)
|
rs376742447
|
|
NM_000335.5(SCN5A):c.1705C>G (p.Arg569Gly)
|
rs199473576
|
|
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp)
|
rs36210423
|
|
NM_000335.5(SCN5A):c.1993G>A (p.Ala665Thr)
|
rs756474485
|
|
NM_000335.5(SCN5A):c.2275A>G (p.Ile759Val)
|
rs199473155
|
|
NM_000335.5(SCN5A):c.2294C>T (p.Thr765Ile)
|
rs2061688177
|
|
NM_000335.5(SCN5A):c.229G>A (p.Gly77Arg)
|
rs1228779956
|
|
NM_000335.5(SCN5A):c.246C>G (p.Asp82Glu)
|
rs747643709
|
|
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs)
|
rs397514450
|
|
NM_000335.5(SCN5A):c.274-5C>G
|
rs773669619
|
|
NM_000335.5(SCN5A):c.2756T>C (p.Phe919Ser)
|
rs794728868
|
|
NM_000335.5(SCN5A):c.2815C>T (p.Leu939Phe)
|
rs886058462
|
|
NM_000335.5(SCN5A):c.2894G>T (p.Arg965Leu)
|
rs199473181
|
|
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser)
|
rs137854609
|
|
NM_000335.5(SCN5A):c.3068G>C (p.Arg1023Pro)
|
rs199473592
|
|
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp)
|
rs199473055
|
|
NM_000335.5(SCN5A):c.3214_3215inv (p.Glu1072Ser)
|
|
|
NM_000335.5(SCN5A):c.3305C>T (p.Ser1102Phe)
|
rs7626962
|
|
NM_000335.5(SCN5A):c.3523T>C (p.Cys1175Arg)
|
rs1390530399
|
|
NM_000335.5(SCN5A):c.3577T>A (p.Leu1193Met)
|
rs1575748933
|
|
NM_000335.5(SCN5A):c.3626T>C (p.Phe1209Ser)
|
rs794728875
|
|
NM_000335.5(SCN5A):c.3913C>G (p.Arg1305Gly)
|
rs1403211358
|
|
NM_000335.5(SCN5A):c.3967G>A (p.Val1323Ile)
|
rs1553695437
|
|
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg)
|
rs137854612
|
|
NM_000335.5(SCN5A):c.4242+1G>C
|
rs794728879
|
|
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)
|
rs749697698
|
|
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter)
|
rs137854613
|
|
NM_000335.5(SCN5A):c.4948A>T (p.Met1650Leu)
|
rs794728889
|
|
NM_000335.5(SCN5A):c.5086T>C (p.Phe1696Leu)
|
rs2125826544
|
|
NM_000335.5(SCN5A):c.5131G>A (p.Gly1711Ser)
|
rs199473298
|
|
NM_000335.5(SCN5A):c.5403C>G (p.Asp1801Glu)
|
rs1367727373
|
|
NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs)
|
rs1060501127
|
|
NM_000335.5(SCN5A):c.5452_5454delinsAAC (p.Asp1818Asn)
|
rs2061022221
|
|
NM_000335.5(SCN5A):c.5454_5455inv (p.Ala1819Thr)
|
|
|
NM_000335.5(SCN5A):c.5488A>C (p.Asn1830His)
|
rs2125825520
|
|
NM_000335.5(SCN5A):c.5536C>G (p.Arg1846Gly)
|
rs768246863
|
|
NM_000335.5(SCN5A):c.5624A>T (p.Glu1875Val)
|
rs2061017114
|
|
NM_000335.5(SCN5A):c.5698G>C (p.Glu1900Gln)
|
rs199473325
|
|
NM_000335.5(SCN5A):c.5798G>A (p.Ser1933Asn)
|
rs730880209
|
|
NM_000335.5(SCN5A):c.5811A>C (p.Glu1937Asp)
|
rs2061011355
|
|
NM_000335.5(SCN5A):c.5855G>A (p.Ser1952Asn)
|
rs781270220
|
|
NM_000335.5(SCN5A):c.5900_5908dup (p.Ile1967_Ser1969dup)
|
rs1332941398
|
|
NM_000335.5(SCN5A):c.6007T>A (p.Phe2003Ile)
|
rs41311117
|
|
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter)
|
rs794728849
|
|
NM_000335.5(SCN5A):c.760A>T (p.Met254Leu)
|
rs2125910458
|
|
NM_000335.5(SCN5A):c.795C>T (p.Ala265=)
|
rs527692731
|
|
NM_000337.6(SGCD):c.*1906C>G
|
rs540017785
|
|
NM_000337.6(SGCD):c.*1907G>A
|
rs75063526
|
|
NM_000337.6(SGCD):c.*2813C>A
|
rs886060297
|
|
NM_000337.6(SGCD):c.*2814G>A
|
rs142023087
|
|
NM_000337.6(SGCD):c.*4935C>T
|
rs1029399512
|
|
NM_000337.6(SGCD):c.*6223T>A
|
rs886060313
|
|
NM_000337.6(SGCD):c.*6518C>T
|
rs1165157961
|
|
NM_000337.6(SGCD):c.*6660dup
|
rs57240389
|
|
NM_000337.6(SGCD):c.*6664C>T
|
rs1010222786
|
|
NM_000337.6(SGCD):c.-44+1_-44+2dup
|
rs1554093294
|
|
NM_000337.6(SGCD):c.-44+2T>A
|
rs1300537737
|
|
NM_000337.6(SGCD):c.25C>T (p.His9Tyr)
|
rs1320640424
|
|
NM_000337.6(SGCD):c.452C>T (p.Ser151Phe)
|
rs766924806
|
|
NM_000337.6(SGCD):c.616A>G (p.Lys206Glu)
|
rs1327580871
|
|
NM_000337.6(SGCD):c.699+13_699+15del
|
rs397517924
|
|
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter)
|
rs778760498
|
|
NM_000363.5(TNNI3):c.104C>T (p.Ala35Val)
|
rs1190447904
|
|
NM_000363.5(TNNI3):c.114dup (p.Ser39fs)
|
rs772607683
|
|
NM_000363.5(TNNI3):c.220C>T (p.Arg74Cys)
|
rs375795196
|
|
NM_000363.5(TNNI3):c.221G>C (p.Arg74Pro)
|
rs886039022
|
|
NM_000363.5(TNNI3):c.356C>T (p.Thr119Ile)
|
rs184709702
|
|
NM_000371.4(TTR):c.-743A>T
|
rs3794885
|
|
NM_000371.4(TTR):c.11_13del (p.His4del)
|
rs747545126
|
|
NM_000371.4(TTR):c.11_13dup (p.His4dup)
|
rs747545126
|
|
NM_000371.4(TTR):c.141T>C (p.Asn47=)
|
rs1252826226
|
|
NM_000371.4(TTR):c.250T>C (p.Phe84Leu)
|
rs121918091
|
|
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)
|
rs121918071
|
|
NM_000371.4(TTR):c.379A>G (p.Ile127Val)
|
rs121918089
|
|
NM_000371.4(TTR):c.37G>A (p.Gly13Arg)
|
rs767889884
|
|
NM_000371.4(TTR):c.70-19G>A
|
rs548935944
|
|
NM_000371.4(TTR):c.70-7C>T
|
rs587780990
|
|
NM_000432.4(MYL2):c.*84C>T
|
rs867853414
|
|
NM_000432.4(MYL2):c.119G>A (p.Arg40Lys)
|
rs727503299
|
|
NM_000432.4(MYL2):c.376C>G (p.Gln126Glu)
|
rs1064796377
|
|
NM_000432.4(MYL2):c.376C>T (p.Gln126Ter)
|
rs1064796377
|
|
NM_000432.4(MYL2):c.50T>C (p.Val17Ala)
|
rs2136777356
|
|
NM_000432.4(MYL2):c.52T>C (p.Phe18Leu)
|
rs104894370
|
|
NM_000447.3(PSEN2):c.205C>G (p.Pro69Ala)
|
rs202133351
|
|
NM_000475.5(NR0B1):c.307_308delinsTT (p.Pro103Leu)
|
rs1569269085
|
|
NM_000475.5(NR0B1):c.593_594delinsAA (p.Arg198Gln)
|
rs1569268891
|
|
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter)
|
rs1131691564
|
|
NM_000612.6(IGF2):c.100G>T (p.Gly34Cys)
|
rs1858937359
|
|
NM_001001430.3(TNNT2):c.68-1623_68-1621delinsTT
|
rs397516362
|
|
NM_001005242.3(PKP2):c.*252A>G
|
rs886049316
|
|
NM_001005242.3(PKP2):c.-9_12dup (p.Pro4_Gly5insThrGlyProMetAlaAlaPro)
|
rs770443705
|
|
NM_001005242.3(PKP2):c.1294G>C (p.Glu432Gln)
|
rs1956689490
|
|
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)
|
rs397516997
|
|
NM_001005242.3(PKP2):c.1532del (p.Phe511fs)
|
rs794729127
|
|
NM_001005242.3(PKP2):c.1644A>T (p.Gly548=)
|
rs1555143127
|
|
NM_001005242.3(PKP2):c.1744T>A (p.Tyr582Asn)
|
rs794729112
|
|
NM_001005242.3(PKP2):c.1748C>T (p.Ser583Phe)
|
rs769817013
|
|
NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met)
|
rs397517016
|
|
NM_001005242.3(PKP2):c.2023_2024delinsCT (p.Ser675Leu)
|
rs1956192621
|
|
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)
|
rs397517021
|
|
NM_001005242.3(PKP2):c.2113_2114delinsAT (p.Ala705Ile)
|
rs1565574704
|
|
NM_001005242.3(PKP2):c.2168-1G>A
|
rs1060501184
|
|
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs)
|
rs1064794350
|
|
NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg)
|
rs794729098
|
|
NM_001005242.3(PKP2):c.2299C>T (p.Arg767Cys)
|
rs139734328
|
|
NM_001005242.3(PKP2):c.2321G>T (p.Gly774Val)
|
rs1192534020
|
|
NM_001005242.3(PKP2):c.369G>A (p.Trp123Ter)
|
rs774663443
|
|
NM_001005242.3(PKP2):c.746G>T (p.Ser249Ile)
|
rs1085307949
|
|
NM_001005242.3(PKP2):c.749G>T (p.Arg250Leu)
|
rs369332786
|
|
NM_001005242.3(PKP2):c.968_971inv (p.Gln323_Ala324delinsArgLeu)
|
|
|
NM_001018005.2(TPM1):c.1A>G (p.Met1Val)
|
rs367543668
|
|
NM_001018005.2(TPM1):c.252C>G (p.Asp84Glu)
|
rs369617788
|
|
NM_001018005.2(TPM1):c.262C>G (p.Leu88Val)
|
rs1555407795
|
|
NM_001018005.2(TPM1):c.2T>C (p.Met1Thr)
|
rs1475635564
|
|
NM_001018005.2(TPM1):c.563+249C>T
|
rs397516379
|
|
NM_001035.3(RYR2):c.10648A>G (p.Arg3550Gly)
|
rs1553300589
|
|
NM_001035.3(RYR2):c.10663G>A (p.Ala3555Thr)
|
rs1689900582
|
|
NM_001035.3(RYR2):c.10837A>G (p.Arg3613Gly)
|
rs2149142608
|
|
NM_001035.3(RYR2):c.11180A>G (p.Gln3727Arg)
|
rs1692948853
|
|
NM_001035.3(RYR2):c.11398T>A (p.Cys3800Ser)
|
rs397516504
|
|
NM_001035.3(RYR2):c.1179G>A (p.Met393Ile)
|
rs80313920
|
|
NM_001035.3(RYR2):c.11919T>G (p.Asp3973Glu)
|
rs370103782
|
|
NM_001035.3(RYR2):c.12430C>T (p.Arg4144Cys)
|
rs1298823746
|
|
NM_001035.3(RYR2):c.12463T>A (p.Ser4155Thr)
|
rs1060500135
|
|
NM_001035.3(RYR2):c.12861C>G (p.Tyr4287Ter)
|
rs570414987
|
|
NM_001035.3(RYR2):c.1316A>C (p.Lys439Thr)
|
rs1658553532
|
|
NM_001035.3(RYR2):c.13276GAA[2] (p.Glu4428del)
|
rs869025516
|
|
NM_001035.3(RYR2):c.13630G>A (p.Val4544Met)
|
rs1235379196
|
|
NM_001035.3(RYR2):c.13666G>C (p.Ala4556Pro)
|
rs189345192
|
|
NM_001035.3(RYR2):c.13984G>C (p.Gly4662Arg)
|
rs886039213
|
|
NM_001035.3(RYR2):c.14048_14049delinsAT (p.Arg4683Asn)
|
rs1558439258
|
|
NM_001035.3(RYR2):c.14062C>G (p.Pro4688Ala)
|
rs1659493419
|
|
NM_001035.3(RYR2):c.14080T>G (p.Leu4694Val)
|
rs2149404631
|
|
NM_001035.3(RYR2):c.14217dup (p.Ala4740fs)
|
rs749201569
|
|
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=)
|
rs114303476
|
|
NM_001035.3(RYR2):c.14843G>A (p.Cys4948Tyr)
|
rs2102968070
|
|
NM_001035.3(RYR2):c.1510C>T (p.Arg504Cys)
|
rs373502556
|
|
NM_001035.3(RYR2):c.1556G>C (p.Gly519Ala)
|
rs1658861680
|
|
NM_001035.3(RYR2):c.1559G>T (p.Arg520Leu)
|
rs564957172
|
|
NM_001035.3(RYR2):c.1964T>C (p.Met655Thr)
|
rs1664091907
|
|
NM_001035.3(RYR2):c.2275T>G (p.Leu759Val)
|
rs768063536
|
|
NM_001035.3(RYR2):c.2353G>A (p.Asp785Asn)
|
rs774486571
|
|
NM_001035.3(RYR2):c.2482C>T (p.Pro828Ser)
|
rs794728698
|
|
NM_001035.3(RYR2):c.2641A>G (p.Ile881Val)
|
rs773162223
|
|
NM_001035.3(RYR2):c.3265C>T (p.Arg1089Cys)
|
rs879255350
|
|
NM_001035.3(RYR2):c.3304T>G (p.Tyr1102Asp)
|
rs2148252443
|
|
NM_001035.3(RYR2):c.3371C>T (p.Pro1124Leu)
|
rs779640835
|
|
NM_001035.3(RYR2):c.3414T>A (p.Asp1138Glu)
|
rs763881346
|
|
NM_001035.3(RYR2):c.3477C>T (p.Gly1159=)
|
rs780861754
|
|
NM_001035.3(RYR2):c.392G>A (p.Cys131Tyr)
|
rs747297455
|
|
NM_001035.3(RYR2):c.3949A>G (p.Thr1317Ala)
|
rs1553514981
|
|
NM_001035.3(RYR2):c.4186G>A (p.Asp1396Asn)
|
rs1553515422
|
|
NM_001035.3(RYR2):c.4229T>C (p.Leu1410Pro)
|
rs794728734
|
|
NM_001035.3(RYR2):c.4294A>G (p.Ile1432Val)
|
rs769163639
|
|
NM_001035.3(RYR2):c.4531G>T (p.Val1511Leu)
|
rs1298609322
|
|
NM_001035.3(RYR2):c.4703C>T (p.Ala1568Val)
|
rs955021407
|
|
NM_001035.3(RYR2):c.4910+3C>G
|
rs757198624
|
|
NM_001035.3(RYR2):c.5311A>G (p.Ile1771Val)
|
rs1678240011
|
|
NM_001035.3(RYR2):c.5525T>C (p.Ile1842Thr)
|
rs1168483242
|
|
NM_001035.3(RYR2):c.5585A>G (p.Asp1862Gly)
|
rs1559117209
|
|
NM_001035.3(RYR2):c.5654G>C (p.Gly1885Ala)
|
rs41315858
|
|
NM_001035.3(RYR2):c.5657dup (p.Lys1887fs)
|
rs786205273
|
|
NM_001035.3(RYR2):c.5821C>T (p.Arg1941Cys)
|
rs754811291
|
|
NM_001035.3(RYR2):c.596G>T (p.Gly199Val)
|
rs754911836
|
|
NM_001035.3(RYR2):c.6298C>T (p.Arg2100Trp)
|
rs753164125
|
|
NM_001035.3(RYR2):c.6322A>G (p.Ile2108Val)
|
rs2148667315
|
|
NM_001035.3(RYR2):c.6811G>T (p.Gly2271Cys)
|
rs375371340
|
|
NM_001035.3(RYR2):c.6911T>C (p.Phe2304Ser)
|
rs2148724464
|
|
NM_001035.3(RYR2):c.6938T>C (p.Val2313Ala)
|
rs1681171235
|
|
NM_001035.3(RYR2):c.7343-9C>T
|
rs372778902
|
|
NM_001035.3(RYR2):c.7501T>G (p.Ser2501Ala)
|
rs747787121
|
|
NM_001035.3(RYR2):c.7774T>G (p.Leu2592Val)
|
rs761019645
|
|
NM_001035.3(RYR2):c.7895C>T (p.Ala2632Val)
|
rs1218556750
|
|
NM_001035.3(RYR2):c.80C>G (p.Thr27Ser)
|
rs1399536009
|
|
NM_001035.3(RYR2):c.824G>A (p.Trp275Ter)
|
rs2150028964
|
|
NM_001035.3(RYR2):c.8366T>C (p.Ile2789Thr)
|
rs1419719746
|
|
NM_001035.3(RYR2):c.8543A>G (p.Tyr2848Cys)
|
rs2148878470
|
|
NM_001035.3(RYR2):c.8617C>T (p.Pro2873Ser)
|
rs1031049689
|
|
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=)
|
rs2797436
|
|
NM_001035.3(RYR2):c.9693G>A (p.Met3231Ile)
|
rs748858246
|
|
NM_001035.3(RYR2):c.9787A>T (p.Met3263Leu)
|
rs1014875855
|
|
NM_001079802.2(FKTN):c.-181+1G>T
|
rs574535599
|
|
NM_001079802.2(FKTN):c.1044+17G>C
|
rs200801909
|
|
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)
|
rs398123555
|
|
NM_001079802.2(FKTN):c.1261_1286delinsACC (p.Ala421fs)
|
rs1588315166
|
|
NM_001079802.2(FKTN):c.239T>C (p.Leu80Pro)
|
rs371697266
|
|
NM_001079802.2(FKTN):c.330dup (p.Thr111fs)
|
rs767865405
|
|
NM_001079802.2(FKTN):c.400_408del (p.Gly134_Gln136del)
|
rs1176794033
|
|
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter)
|
rs537001725
|
|
NM_001079802.2(FKTN):c.456_457del (p.Ser154fs)
|
rs760731888
|
|
NM_001079802.2(FKTN):c.530A>G (p.His177Arg)
|
rs773322779
|
|
NM_001079802.2(FKTN):c.531T>A (p.His177Gln)
|
rs534638144
|
|
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter)
|
rs398123557
|
|
NM_001079802.2(FKTN):c.648-1243G>T
|
rs1554754182
|
|
NM_001079802.2(FKTN):c.711C>G (p.His237Gln)
|
rs562170364
|
|
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter)
|
rs377417974
|
|
NM_001079802.2(FKTN):c.788T>G (p.Leu263Arg)
|
rs1564318575
|
|
NM_001103.4(ACTN2):c.*286T>C
|
rs190536248
|
|
NM_001103.4(ACTN2):c.*979C>A
|
rs181615071
|
|
NM_001103.4(ACTN2):c.1025A>G (p.Glu342Gly)
|
rs1234368540
|
|
NM_001103.4(ACTN2):c.1274T>C (p.Leu425Pro)
|
rs1572137003
|
|
NM_001103.4(ACTN2):c.1342G>C (p.Glu448Gln)
|
rs764031568
|
|
NM_001103.4(ACTN2):c.1348G>T (p.Asp450Tyr)
|
rs774252565
|
|
NM_001103.4(ACTN2):c.1699G>A (p.Glu567Lys)
|
rs1659393136
|
|
NM_001103.4(ACTN2):c.1707C>A (p.Asp569Glu)
|
rs773915011
|
|
NM_001103.4(ACTN2):c.1741G>A (p.Glu581Lys)
|
rs1398504608
|
|
NM_001103.4(ACTN2):c.1748A>C (p.Glu583Ala)
|
rs200631005
|
|
NM_001103.4(ACTN2):c.1771A>G (p.Ile591Val)
|
rs377650301
|
|
NM_001103.4(ACTN2):c.1794G>C (p.Pro598=)
|
rs137890030
|
|
NM_001103.4(ACTN2):c.1907A>G (p.Glu636Gly)
|
rs1010571438
|
|
NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys)
|
rs149433837
|
|
NM_001103.4(ACTN2):c.21C>T (p.Gly7=)
|
rs1387972965
|
|
NM_001103.4(ACTN2):c.2387G>T (p.Arg796Leu)
|
rs772409484
|
|
NM_001103.4(ACTN2):c.2423C>T (p.Thr808Ile)
|
rs148833906
|
|
NM_001103.4(ACTN2):c.2485G>A (p.Glu829Lys)
|
rs770335717
|
|
NM_001103.4(ACTN2):c.2587A>C (p.Ile863Leu)
|
rs397516577
|
|
NM_001103.4(ACTN2):c.2653T>C (p.Ser885Pro)
|
rs863224691
|
|
NM_001103.4(ACTN2):c.589C>T (p.Leu197Phe)
|
rs760937883
|
|
NM_001103.4(ACTN2):c.686T>G (p.Leu229Trp)
|
rs141793230
|
|
NM_001103.4(ACTN2):c.928G>A (p.Glu310Lys)
|
rs1572132678
|
|
NM_001105206.3(LAMA4):c.1163C>A (p.Ala388Asp)
|
rs1355664776
|
|
NM_001105206.3(LAMA4):c.1419C>T (p.Val473=)
|
rs782796474
|
|
NM_001105206.3(LAMA4):c.2417G>A (p.Arg806Gln)
|
rs1554334150
|
|
NM_001105206.3(LAMA4):c.247G>C (p.Asp83His)
|
rs531319918
|
|
NM_001105206.3(LAMA4):c.2493G>A (p.Lys831=)
|
rs869025450
|
|
NM_001105206.3(LAMA4):c.307C>T (p.Arg103Trp)
|
rs138176093
|
|
NM_001105206.3(LAMA4):c.308G>A (p.Arg103Gln)
|
rs782029414
|
|
NM_001105206.3(LAMA4):c.3704G>A (p.Arg1235His)
|
rs559725422
|
|
NM_001105206.3(LAMA4):c.373G>T (p.Ala125Ser)
|
rs529185662
|
|
NM_001105206.3(LAMA4):c.449dup (p.Asn150fs)
|
rs1249093492
|
|
NM_001105206.3(LAMA4):c.4683_4684del (p.Arg1562fs)
|
rs1554325284
|
|
NM_001105206.3(LAMA4):c.4696C>T (p.Arg1566Ter)
|
rs1554325261
|
|
NM_001105206.3(LAMA4):c.4967G>T (p.Gly1656Val)
|
rs41289900
|
|
NM_001105206.3(LAMA4):c.5269C>T (p.Pro1757Ser)
|
rs782001026
|
|
NM_001105206.3(LAMA4):c.673G>A (p.Ala225Thr)
|
rs782121531
|
|
NM_001105206.3(LAMA4):c.730G>A (p.Gly244Arg)
|
rs147078770
|
|
NM_001105206.3(LAMA4):c.730G>C (p.Gly244Arg)
|
rs147078770
|
|
NM_001105206.3(LAMA4):c.85G>C (p.Asp29His)
|
rs150662822
|
|
NM_001105206.3(LAMA4):c.868T>C (p.Ser290Pro)
|
rs782433369
|
|
NM_001105206.3(LAMA4):c.868T>G (p.Ser290Ala)
|
rs782433369
|
|
NM_001122630.2(CDKN1C):c.*5+20G>T
|
rs760540648
|
|
NM_001122630.2(CDKN1C):c.204G>C (p.Trp68Cys)
|
rs2133785693
|
|
NM_001122630.2(CDKN1C):c.329C>G (p.Pro110Arg)
|
rs1590150723
|
|
NM_001122630.2(CDKN1C):c.425_442dup (p.Val142_Pro147dup)
|
rs1443296311
|
|
NM_001122630.2(CDKN1C):c.43C>G (p.Arg15Gly)
|
rs765255367
|
|
NM_001122630.2(CDKN1C):c.567_596dup (p.186_187AP[15])
|
rs1064792990
|
|
NM_001122630.2(CDKN1C):c.573GGCCCC[3] (p.186AP[9])
|
rs759134767
|
|
NM_001122630.2(CDKN1C):c.587_616dup (p.186_187AP[15])
|
rs878853638
|
|
NM_001122630.2(CDKN1C):c.592G>A (p.Ala198Thr)
|
rs750581456
|
|
NM_001122630.2(CDKN1C):c.625C>A (p.Pro209Thr)
|
rs1329147434
|
|
NM_001122630.2(CDKN1C):c.709G>A (p.Gly237Arg)
|
rs1564929381
|
|
NM_001122630.2(CDKN1C):c.715C>T (p.Pro239Ser)
|
rs2133782321
|
|
NM_001122630.2(CDKN1C):c.719C>T (p.Ala240Val)
|
rs765542916
|
|
NM_001122630.2(CDKN1C):c.775C>A (p.Pro259Thr)
|
rs1416211722
|
|
NM_001122630.2(CDKN1C):c.828G>C (p.Ser276=)
|
rs373252940
|
|
NM_001122630.2(CDKN1C):c.841C>G (p.Pro281Ala)
|
rs1564928669
|
|
NM_001122630.2(CDKN1C):c.885G>A (p.Ser295=)
|
rs1060503861
|
|
NM_001122630.2(CDKN1C):c.98G>T (p.Arg33Leu)
|
rs1477382841
|
|
NM_001134363.3(RBM20):c.1528-1G>C
|
rs534513476
|
|
NM_001134363.3(RBM20):c.154C>A (p.Pro52Thr)
|
rs2134793204
|
|
NM_001134363.3(RBM20):c.1766G>A (p.Arg589Gln)
|
rs368716639
|
|
NM_001134363.3(RBM20):c.1823C>T (p.Ala608Val)
|
rs1844749476
|
|
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu)
|
rs267607003
|
|
NM_001134363.3(RBM20):c.1969_1970delinsAG (p.Ser657=)
|
rs1554842673
|
|
NM_001134363.3(RBM20):c.2161G>A (p.Ala721Thr)
|
rs876657976
|
|
NM_001134363.3(RBM20):c.237_298del (p.Asn80fs)
|
rs1554898759
|
|
NM_001134363.3(RBM20):c.25C>T (p.Gln9Ter)
|
rs1861836936
|
|
NM_001134363.3(RBM20):c.2689G>C (p.Gly897Arg)
|
rs982286757
|
|
NM_001134363.3(RBM20):c.2748AGA[2] (p.Glu918del)
|
rs765389992
|
|
NM_001134363.3(RBM20):c.2749G>C (p.Glu917Gln)
|
rs1844907124
|
|
NM_001134363.3(RBM20):c.2761A>T (p.Ile921Phe)
|
rs397516608
|
|
NM_001134363.3(RBM20):c.2764G>T (p.Val922Leu)
|
rs947100716
|
|
NM_001134363.3(RBM20):c.2989G>A (p.Val997Met)
|
rs372370653
|
|
NM_001134363.3(RBM20):c.3162G>T (p.Glu1054Asp)
|
rs886046706
|
|
NM_001134363.3(RBM20):c.3169C>G (p.Arg1057Gly)
|
rs199830512
|
|
NM_001134363.3(RBM20):c.3262C>A (p.Pro1088Thr)
|
rs969716149
|
|
NM_001134363.3(RBM20):c.3262C>G (p.Pro1088Ala)
|
rs969716149
|
|
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr)
|
rs753102653
|
|
NM_001134363.3(RBM20):c.3584C>G (p.Ser1195Cys)
|
rs753102653
|
|
NM_001134363.3(RBM20):c.3584C>T (p.Ser1195Phe)
|
rs753102653
|
|
NM_001134363.3(RBM20):c.35A>T (p.Asp12Val)
|
rs887276458
|
|
NM_001134363.3(RBM20):c.3632C>T (p.Pro1211Leu)
|
rs587782973
|
|
NM_001134363.3(RBM20):c.364C>A (p.Gln122Lys)
|
rs727504583
|
|
NM_001134363.3(RBM20):c.465TGC[1] (p.Ala158del)
|
rs1231520936
|
|
NM_001134363.3(RBM20):c.505A>G (p.Ile169Val)
|
rs2135041793
|
|
NM_001134363.3(RBM20):c.794_795dup (p.His266fs)
|
rs1564844065
|
|
NM_001134363.3(RBM20):c.936G>T (p.Leu312=)
|
rs1283162002
|
|
NM_001159699.2(FHL1):c.239C>A (p.Thr80Asn)
|
rs746834335
|
|
NM_001159699.2(FHL1):c.494A>G (p.Tyr165Cys)
|
rs2148376111
|
|
NM_001159699.2(FHL1):c.77G>A (p.Cys26Tyr)
|
rs2148371537
|
|
NM_001159699.2(FHL1):c.810dup (p.Cys271fs)
|
rs2073964376
|
|
NM_001232.4(CASQ2):c.*332A>T
|
rs758724908
|
|
NM_001232.4(CASQ2):c.-206_-205dup
|
rs72554067
|
|
NM_001232.4(CASQ2):c.-212_-211insATGTGT
|
rs886045162
|
|
NM_001232.4(CASQ2):c.-218delinsCGTGCGTGC
|
rs886045163
|
|
NM_001232.4(CASQ2):c.-219_-218insCGTGTG
|
rs886045164
|
|
NM_001232.4(CASQ2):c.1030A>T (p.Met344Leu)
|
rs1295335060
|
|
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup)
|
rs72554069
|
|
NM_001232.4(CASQ2):c.213del (p.Gln71fs)
|
rs786205799
|
|
NM_001232.4(CASQ2):c.324TGA[1] (p.Asp109del)
|
rs1358515759
|
|
NM_001232.4(CASQ2):c.326A>T (p.Asp109Val)
|
rs946911897
|
|
NM_001232.4(CASQ2):c.546del (p.Phe182fs)
|
rs763955301
|
|
NM_001232.4(CASQ2):c.62del (p.Glu21fs)
|
rs397507555
|
|
NM_001232.4(CASQ2):c.691C>T (p.Pro231Ser)
|
rs749796276
|
|
NM_001232.4(CASQ2):c.738-11_738-5del
|
rs56889721
|
|
NM_001232.4(CASQ2):c.738-27dup
|
rs56889721
|
|
NM_001232.4(CASQ2):c.926A>T (p.Asp309Val)
|
rs72703607
|
|
NM_001232.4(CASQ2):c.940-1G>T
|
rs876657635
|
|
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter)
|
rs397507556
|
|
NM_001267550.2(TTN):c.*913C>A
|
rs886055213
|
|
NM_001267550.2(TTN):c.100171+16_100171+17insA
|
rs2154137874
|
|
NM_001267550.2(TTN):c.100244C>T (p.Pro33415Leu)
|
rs72648282
|
|
NM_001267550.2(TTN):c.100693G>C (p.Ala33565Pro)
|
rs373484505
|
|
NM_001267550.2(TTN):c.101050C>G (p.Leu33684Val)
|
rs775824162
|
|
NM_001267550.2(TTN):c.101369T>A (p.Met33790Lys)
|
rs876658097
|
|
NM_001267550.2(TTN):c.101642C>G (p.Ser33881Ter)
|
rs2154136345
|
|
NM_001267550.2(TTN):c.10178C>T (p.Thr3393Ile)
|
rs752227022
|
|
NM_001267550.2(TTN):c.102193T>C (p.Ser34065Pro)
|
rs1690528772
|
|
NM_001267550.2(TTN):c.102913AAG[1] (p.Lys34306del)
|
rs762798421
|
|
NM_001267550.2(TTN):c.103450G>C (p.Ala34484Pro)
|
rs754949098
|
|
NM_001267550.2(TTN):c.103739T>G (p.Met34580Arg)
|
rs775137392
|
|
NM_001267550.2(TTN):c.103938_103945delinsCTCTTGGG (p.Tyr34647_Arg34649delinsSerTrpGly)
|
rs1689696229
|
|
NM_001267550.2(TTN):c.104638G>C (p.Glu34880Gln)
|
rs1404462483
|
|
NM_001267550.2(TTN):c.104660C>T (p.Pro34887Leu)
|
rs774131659
|
|
NM_001267550.2(TTN):c.104699_104726delinsT (p.Glu34900_Ser34909delinsVal)
|
rs1689265228
|
|
NM_001267550.2(TTN):c.105185A>C (p.Tyr35062Ser)
|
rs1689071281
|
|
NM_001267550.2(TTN):c.105190_105191del (p.Val35064fs)
|
rs770878165
|
|
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter)
|
rs534484592
|
|
NM_001267550.2(TTN):c.105952A>T (p.Thr35318Ser)
|
rs1688710616
|
|
NM_001267550.2(TTN):c.106018G>A (p.Gly35340Ser)
|
rs373610666
|
|
NM_001267550.2(TTN):c.106049del (p.Thr35350fs)
|
rs1250336644
|
|
NM_001267550.2(TTN):c.106578_106580delinsAGT (p.Glu35527Val)
|
rs386653129
|
|
NM_001267550.2(TTN):c.106629del (p.Ala35544fs)
|
rs869312069
|
|
NM_001267550.2(TTN):c.106919T>C (p.Leu35640Pro)
|
rs750550267
|
|
NM_001267550.2(TTN):c.107290G>T (p.Ala35764Ser)
|
rs879048717
|
|
NM_001267550.2(TTN):c.107377+1G>C
|
rs112188483
|
|
NM_001267550.2(TTN):c.107392C>T (p.Pro35798Ser)
|
rs780544430
|
|
NM_001267550.2(TTN):c.107564G>T (p.Ser35855Ile)
|
rs1053387515
|
|
NM_001267550.2(TTN):c.107681-18dup
|
rs148707308
|
|
NM_001267550.2(TTN):c.10770G>C (p.Glu3590Asp)
|
rs377401997
|
|
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)
|
rs281864927
|
|
NM_001267550.2(TTN):c.107797G>C (p.Gly35933Arg)
|
rs1575170417
|
|
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)
|
rs281864930
|
|
NM_001267550.2(TTN):c.107965C>T (p.Arg35989Ter)
|
rs770506970
|
|
NM_001267550.2(TTN):c.10799C>A (p.Ser3600Ter)
|
rs374300381
|
|
NM_001267550.2(TTN):c.11209G>A (p.Asp3737Asn)
|
rs1243794346
|
|
NM_001267550.2(TTN):c.11255-17_11255-16del
|
rs72647895
|
|
NM_001267550.2(TTN):c.11444del (p.Lys3815fs)
|
rs1574099951
|
|
NM_001267550.2(TTN):c.1186G>A (p.Ala396Thr)
|
rs200052202
|
|
NM_001267550.2(TTN):c.11881G>A (p.Val3961Met)
|
rs1017307763
|
|
NM_001267550.2(TTN):c.12113C>G (p.Thr4038Ser)
|
rs758968807
|
|
NM_001267550.2(TTN):c.12319del (p.Leu4107fs)
|
rs2154318463
|
|
NM_001267550.2(TTN):c.12564C>T (p.Ala4188=)
|
rs547338168
|
|
NM_001267550.2(TTN):c.12780G>A (p.Ala4260=)
|
rs746578
|
|
NM_001267550.2(TTN):c.12780G>T (p.Ala4260=)
|
rs746578
|
|
NM_001267550.2(TTN):c.13127dup (p.Asp4376fs)
|
rs2082227467
|
|
NM_001267550.2(TTN):c.13128C>A (p.Asp4376Glu)
|
rs759726422
|
|
NM_001267550.2(TTN):c.1360_1365delinsCATCCA (p.Thr454_Thr455delinsHisPro)
|
rs2154355944
|
|
NM_001267550.2(TTN):c.1393G>T (p.Glu465Ter)
|
rs1313233245
|
|
NM_001267550.2(TTN):c.15497-2A>G
|
rs1232334931
|
|
NM_001267550.2(TTN):c.1662+5G>A
|
rs1021479898
|
|
NM_001267550.2(TTN):c.17357G>T (p.Ser5786Ile)
|
rs1553924253
|
|
NM_001267550.2(TTN):c.17558C>T (p.Thr5853Ile)
|
rs2154308873
|
|
NM_001267550.2(TTN):c.177C>T (p.Ser59=)
|
rs191057824
|
|
NM_001267550.2(TTN):c.18089A>G (p.Gln6030Arg)
|
rs1560784359
|
|
NM_001267550.2(TTN):c.18114T>C (p.Thr6038=)
|
rs1221916366
|
|
NM_001267550.2(TTN):c.18673A>G (p.Thr6225Ala)
|
rs794727818
|
|
NM_001267550.2(TTN):c.19357G>A (p.Gly6453Ser)
|
rs374964612
|
|
NM_001267550.2(TTN):c.19567A>G (p.Thr6523Ala)
|
rs1560756818
|
|
NM_001267550.2(TTN):c.21246C>T (p.Thr7082=)
|
rs1553913320
|
|
NM_001267550.2(TTN):c.21292G>A (p.Val7098Ile)
|
rs878978917
|
|
NM_001267550.2(TTN):c.2226C>T (p.Ser742=)
|
rs151025677
|
|
NM_001267550.2(TTN):c.22384_22385delinsCG (p.Asp7462Arg)
|
rs1060500493
|
|
NM_001267550.2(TTN):c.22724_22725dup (p.Lys7576fs)
|
rs2154301477
|
|
NM_001267550.2(TTN):c.22741G>T (p.Asp7581Tyr)
|
rs1433348204
|
|
NM_001267550.2(TTN):c.22789_22790del (p.Met7597fs)
|
rs1211248610
|
|
NM_001267550.2(TTN):c.23098+1G>T
|
rs2154300949
|
|
NM_001267550.2(TTN):c.23201_23212dup (p.Val7734_Lys7737dup)
|
rs1451740768
|
|
NM_001267550.2(TTN):c.23660-13CTT[2]
|
rs563250569
|
|
NM_001267550.2(TTN):c.24784+6T>G
|
rs1560640894
|
|
NM_001267550.2(TTN):c.25104C>T (p.Asp8368=)
|
rs369089044
|
|
NM_001267550.2(TTN):c.2522C>A (p.Thr841Lys)
|
rs750195208
|
|
NM_001267550.2(TTN):c.25699A>G (p.Thr8567Ala)
|
rs777832511
|
|
NM_001267550.2(TTN):c.26189T>A (p.Ile8730Asn)
|
rs1060500488
|
|
NM_001267550.2(TTN):c.26719C>G (p.Pro8907Ala)
|
rs764261158
|
|
NM_001267550.2(TTN):c.26949A>T (p.Leu8983Phe)
|
rs878969676
|
|
NM_001267550.2(TTN):c.27429T>C (p.Val9143=)
|
rs753291492
|
|
NM_001267550.2(TTN):c.27532G>A (p.Asp9178Asn)
|
rs727504202
|
|
NM_001267550.2(TTN):c.28240G>T (p.Ala9414Ser)
|
rs794729635
|
|
NM_001267550.2(TTN):c.28354G>C (p.Ala9452Pro)
|
rs527663092
|
|
NM_001267550.2(TTN):c.29153T>G (p.Ile9718Ser)
|
rs4893852
|
|
NM_001267550.2(TTN):c.30455G>A (p.Arg10152Gln)
|
rs375796685
|
|
NM_001267550.2(TTN):c.30608C>G (p.Pro10203Arg)
|
rs1344215902
|
|
NM_001267550.2(TTN):c.30683-19del
|
rs752002029
|
|
NM_001267550.2(TTN):c.30683-4_30683-3del
|
rs368277751
|
|
NM_001267550.2(TTN):c.30694G>T (p.Ala10232Ser)
|
rs747294929
|
|
NM_001267550.2(TTN):c.3071T>G (p.Val1024Gly)
|
rs879097187
|
|
NM_001267550.2(TTN):c.30754+1G>T
|
rs914288774
|
|
NM_001267550.2(TTN):c.31207+5G>A
|
rs876658051
|
|
NM_001267550.2(TTN):c.31255C>T (p.Pro10419Ser)
|
rs397517537
|
|
NM_001267550.2(TTN):c.31757C>G (p.Pro10586Arg)
|
rs200459347
|
|
NM_001267550.2(TTN):c.31757C>T (p.Pro10586Leu)
|
rs200459347
|
|
NM_001267550.2(TTN):c.3197A>T (p.Asp1066Val)
|
rs886055305
|
|
NM_001267550.2(TTN):c.32054C>T (p.Ala10685Val)
|
rs794729407
|
|
NM_001267550.2(TTN):c.32311G>A (p.Val10771Met)
|
rs549877654
|
|
NM_001267550.2(TTN):c.32750C>A (p.Pro10917Gln)
|
rs73973137
|
|
NM_001267550.2(TTN):c.32887+1G>T
|
rs546105899
|
|
NM_001267550.2(TTN):c.3331C>T (p.Pro1111Ser)
|
rs727504210
|
|
NM_001267550.2(TTN):c.33382C>G (p.Pro11128Ala)
|
rs772242510
|
|
NM_001267550.2(TTN):c.33418+11del
|
rs779637808
|
|
NM_001267550.2(TTN):c.33418+2T>A
|
rs779749654
|
|
NM_001267550.2(TTN):c.337A>G (p.Met113Val)
|
rs1060500430
|
|
NM_001267550.2(TTN):c.34207G>C (p.Glu11403Gln)
|
rs878921943
|
|
NM_001267550.2(TTN):c.34499dup (p.Pro11501fs)
|
rs1560284392
|
|
NM_001267550.2(TTN):c.34708+8C>A
|
rs762808097
|
|
NM_001267550.2(TTN):c.34786+1G>T
|
rs879010418
|
|
NM_001267550.2(TTN):c.34787-19del
|
rs749050618
|
|
NM_001267550.2(TTN):c.34801C>T (p.Pro11601Ser)
|
rs1013759400
|
|
NM_001267550.2(TTN):c.35025G>A (p.Val11675=)
|
rs1047010138
|
|
NM_001267550.2(TTN):c.36087_36090del (p.Ser12030fs)
|
rs2154260181
|
|
NM_001267550.2(TTN):c.36159G>C (p.Thr12053=)
|
rs773862719
|
|
NM_001267550.2(TTN):c.36267_36280+16del
|
rs745871962
|
|
NM_001267550.2(TTN):c.36949G>A (p.Ala12317Thr)
|
rs1405466072
|
|
NM_001267550.2(TTN):c.3695A>T (p.Asp1232Val)
|
rs576019235
|
|
NM_001267550.2(TTN):c.36982A>G (p.Thr12328Ala)
|
rs146313925
|
|
NM_001267550.2(TTN):c.37178dup (p.Pro12394fs)
|
rs2064831878
|
|
NM_001267550.2(TTN):c.37447C>G (p.Pro12483Ala)
|
rs1060500552
|
|
NM_001267550.2(TTN):c.37616_37627+12del
|
rs1560149416
|
|
NM_001267550.2(TTN):c.37702G>A (p.Ala12568Thr)
|
rs1060500468
|
|
NM_001267550.2(TTN):c.37711G>A (p.Val12571Met)
|
rs1577039412
|
|
NM_001267550.2(TTN):c.38131G>T (p.Val12711Leu)
|
rs202075225
|
|
NM_001267550.2(TTN):c.38230G>A (p.Glu12744Lys)
|
rs1553777033
|
|
NM_001267550.2(TTN):c.38660del (p.Lys12887fs)
|
rs761617432
|
|
NM_001267550.2(TTN):c.38919del (p.Leu12974fs)
|
rs1359574718
|
|
NM_001267550.2(TTN):c.39282TCC[1] (p.Pro13097del)
|
rs727503631
|
|
NM_001267550.2(TTN):c.39407C>T (p.Pro13136Leu)
|
rs1060500460
|
|
NM_001267550.2(TTN):c.39539del (p.Pro13180fs)
|
rs2062944024
|
|
NM_001267550.2(TTN):c.39818-4_39821delinsA
|
rs2062659844
|
|
NM_001267550.2(TTN):c.40057+10A>G
|
rs1576917346
|
|
NM_001267550.2(TTN):c.40634-15_40634-11del
|
rs375561641
|
|
NM_001267550.2(TTN):c.40712A>T (p.Glu13571Val)
|
rs1190002260
|
|
NM_001267550.2(TTN):c.40963G>A (p.Glu13655Lys)
|
rs727504198
|
|
NM_001267550.2(TTN):c.41609-2A>C
|
rs730880244
|
|
NM_001267550.2(TTN):c.42046G>A (p.Gly14016Ser)
|
rs367751077
|
|
NM_001267550.2(TTN):c.42103C>T (p.Leu14035Phe)
|
rs1433887768
|
|
NM_001267550.2(TTN):c.42430T>A (p.Phe14144Ile)
|
rs1359996660
|
|
NM_001267550.2(TTN):c.42524T>G (p.Phe14175Cys)
|
rs575813993
|
|
NM_001267550.2(TTN):c.4270C>T (p.Pro1424Ser)
|
rs772479207
|
|
NM_001267550.2(TTN):c.43211A>C (p.Lys14404Thr)
|
rs1296402152
|
|
NM_001267550.2(TTN):c.43913A>G (p.Lys14638Arg)
|
rs878896650
|
|
NM_001267550.2(TTN):c.44204A>G (p.Asn14735Ser)
|
rs763464756
|
|
NM_001267550.2(TTN):c.44281+5G>A
|
rs2059634223
|
|
NM_001267550.2(TTN):c.44375T>C (p.Ile14792Thr)
|
rs747654057
|
|
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del)
|
rs727505315
|
|
NM_001267550.2(TTN):c.44519T>A (p.Phe14840Tyr)
|
rs886055276
|
|
NM_001267550.2(TTN):c.44913+10dup
|
rs745700983
|
|
NM_001267550.2(TTN):c.44913G>C (p.Lys14971Asn)
|
rs757693661
|
|
NM_001267550.2(TTN):c.45001A>C (p.Asn15001His)
|
rs373109469
|
|
NM_001267550.2(TTN):c.46078_46092del (p.Ile15360_Gly15364del)
|
rs727505075
|
|
NM_001267550.2(TTN):c.46170G>A (p.Pro15390=)
|
rs747163190
|
|
NM_001267550.2(TTN):c.46569T>A (p.Asp15523Glu)
|
rs1553713980
|
|
NM_001267550.2(TTN):c.47123C>G (p.Thr15708Arg)
|
rs1553711574
|
|
NM_001267550.2(TTN):c.47697C>A (p.Cys15899Ter)
|
rs373040154
|
|
NM_001267550.2(TTN):c.47875+4_47875+7del
|
rs753206674
|
|
NM_001267550.2(TTN):c.4814+9G>C
|
rs768137657
|
|
NM_001267550.2(TTN):c.48451A>C (p.Thr16151Pro)
|
rs186497293
|
|
NM_001267550.2(TTN):c.48457G>T (p.Ala16153Ser)
|
rs876658063
|
|
NM_001267550.2(TTN):c.49949A>G (p.Tyr16650Cys)
|
rs794727352
|
|
NM_001267550.2(TTN):c.50657_50660dup (p.Tyr16887Ter)
|
rs2056330918
|
|
NM_001267550.2(TTN):c.50869A>G (p.Ile16957Val)
|
rs372013419
|
|
NM_001267550.2(TTN):c.51379G>T (p.Val17127Phe)
|
rs397517603
|
|
NM_001267550.2(TTN):c.51570T>G (p.Gly17190=)
|
rs876657607
|
|
NM_001267550.2(TTN):c.51649G>T (p.Glu17217Ter)
|
rs1060500503
|
|
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val)
|
rs886042743
|
|
NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter)
|
rs1131691381
|
|
NM_001267550.2(TTN):c.54320C>G (p.Ala18107Gly)
|
rs794729457
|
|
NM_001267550.2(TTN):c.54638G>A (p.Trp18213Ter)
|
rs727503602
|
|
NM_001267550.2(TTN):c.54674G>T (p.Gly18225Val)
|
rs886038866
|
|
NM_001267550.2(TTN):c.5479G>A (p.Ala1827Thr)
|
rs141213991
|
|
NM_001267550.2(TTN):c.55393G>T (p.Ala18465Ser)
|
rs899078606
|
|
NM_001267550.2(TTN):c.55909C>T (p.Arg18637Cys)
|
rs374151130
|
|
NM_001267550.2(TTN):c.56855G>T (p.Gly18952Val)
|
rs762735652
|
|
NM_001267550.2(TTN):c.56941G>A (p.Ala18981Thr)
|
rs760651904
|
|
NM_001267550.2(TTN):c.57083AAG[2] (p.Glu19030del)
|
rs749887998
|
|
NM_001267550.2(TTN):c.57387T>G (p.Asn19129Lys)
|
rs375305621
|
|
NM_001267550.2(TTN):c.58399T>A (p.Ser19467Thr)
|
rs920055688
|
|
NM_001267550.2(TTN):c.59031A>G (p.Pro19677=)
|
rs886042123
|
|
NM_001267550.2(TTN):c.59035+6G>A
|
rs753714590
|
|
NM_001267550.2(TTN):c.59240T>G (p.Leu19747Arg)
|
rs2154185954
|
|
NM_001267550.2(TTN):c.59570T>C (p.Leu19857Ser)
|
rs547180437
|
|
NM_001267550.2(TTN):c.59707G>A (p.Asp19903Asn)
|
rs374163882
|
|
NM_001267550.2(TTN):c.60345T>A (p.Asp20115Glu)
|
rs376618165
|
|
NM_001267550.2(TTN):c.60455_60456del (p.Thr20152fs)
|
rs2154184873
|
|
NM_001267550.2(TTN):c.60472G>A (p.Gly20158Ser)
|
rs375009570
|
|
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu)
|
rs72646843
|
|
NM_001267550.2(TTN):c.60576A>C (p.Ser20192=)
|
rs778528252
|
|
NM_001267550.2(TTN):c.61098C>T (p.Cys20366=)
|
rs755233818
|
|
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter)
|
rs794729278
|
|
NM_001267550.2(TTN):c.61670A>G (p.His20557Arg)
|
rs1472565206
|
|
NM_001267550.2(TTN):c.62044A>G (p.Lys20682Glu)
|
rs2049804283
|
|
NM_001267550.2(TTN):c.6292C>T (p.Arg2098Trp)
|
rs763722868
|
|
NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs)
|
rs1559561666
|
|
NM_001267550.2(TTN):c.63096T>A (p.His21032Gln)
|
rs1559561109
|
|
NM_001267550.2(TTN):c.63269A>T (p.Tyr21090Phe)
|
rs377480514
|
|
NM_001267550.2(TTN):c.63272_63298dup (p.Asp21091_Tyr21099dup)
|
rs750904641
|
|
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter)
|
rs764243269
|
|
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter)
|
rs794729280
|
|
NM_001267550.2(TTN):c.65206G>T (p.Ala21736Ser)
|
rs1320436212
|
|
NM_001267550.2(TTN):c.65633G>C (p.Gly21878Ala)
|
rs767001973
|
|
NM_001267550.2(TTN):c.66054G>A (p.Glu22018=)
|
rs727503579
|
|
NM_001267550.2(TTN):c.66161-1G>C
|
rs1553627403
|
|
NM_001267550.2(TTN):c.66318C>G (p.Asn22106Lys)
|
rs771219209
|
|
NM_001267550.2(TTN):c.66416G>A (p.Gly22139Asp)
|
rs1559507734
|
|
NM_001267550.2(TTN):c.66528T>G (p.Ser22176=)
|
rs1553626322
|
|
NM_001267550.2(TTN):c.66624A>G (p.Leu22208=)
|
rs2047769242
|
|
NM_001267550.2(TTN):c.66985G>A (p.Ala22329Thr)
|
rs886055253
|
|
NM_001267550.2(TTN):c.6713C>G (p.Thr2238Arg)
|
rs201284459
|
|
NM_001267550.2(TTN):c.67166_67167del (p.Tyr22389fs)
|
rs1476017129
|
|
NM_001267550.2(TTN):c.67229A>C (p.Lys22410Thr)
|
rs1559493839
|
|
NM_001267550.2(TTN):c.68235T>C (p.Asp22745=)
|
rs757244505
|
|
NM_001267550.2(TTN):c.68308del (p.Thr22770fs)
|
rs1064796112
|
|
NM_001267550.2(TTN):c.68498C>T (p.Ser22833Leu)
|
rs876658077
|
|
NM_001267550.2(TTN):c.70112G>C (p.Arg23371Pro)
|
rs767208489
|
|
NM_001267550.2(TTN):c.70377T>C (p.Pro23459=)
|
rs768458635
|
|
NM_001267550.2(TTN):c.70813G>C (p.Val23605Leu)
|
rs368325616
|
|
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)
|
rs397517689
|
|
NM_001267550.2(TTN):c.71C>T (p.Thr24Ile)
|
rs536235994
|
|
NM_001267550.2(TTN):c.7208T>C (p.Ile2403Thr)
|
rs760895168
|
|
NM_001267550.2(TTN):c.72521C>T (p.Ala24174Val)
|
rs1709019921
|
|
NM_001267550.2(TTN):c.72613del (p.Val24205fs)
|
rs1708996209
|
|
NM_001267550.2(TTN):c.72645T>G (p.Leu24215=)
|
rs1218286270
|
|
NM_001267550.2(TTN):c.72828_72831dup (p.Thr24278fs)
|
rs751319893
|
|
NM_001267550.2(TTN):c.73110_73111delinsCA (p.Trp24370_Gln24371delinsCysLys)
|
rs1553608093
|
|
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter)
|
rs794729285
|
|
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer)
|
rs1064796390
|
|
NM_001267550.2(TTN):c.74372C>T (p.Thr24791Ile)
|
rs1055906361
|
|
NM_001267550.2(TTN):c.7498C>T (p.Gln2500Ter)
|
rs1561253718
|
|
NM_001267550.2(TTN):c.752A>G (p.His251Arg)
|
rs587782983
|
|
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter)
|
rs794729382
|
|
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs)
|
rs1553603036
|
|
NM_001267550.2(TTN):c.75663del (p.Lys25221fs)
|
rs1131691542
|
|
NM_001267550.2(TTN):c.76349G>A (p.Gly25450Asp)
|
rs748296171
|
|
NM_001267550.2(TTN):c.76707C>A (p.Asp25569Glu)
|
rs1002726225
|
|
NM_001267550.2(TTN):c.76737T>A (p.Tyr25579Ter)
|
rs1707280155
|
|
NM_001267550.2(TTN):c.77779A>C (p.Ile25927Leu)
|
rs780196850
|
|
NM_001267550.2(TTN):c.77818GTT[1] (p.Val25941del)
|
rs754571796
|
|
NM_001267550.2(TTN):c.78021G>A (p.Met26007Ile)
|
rs786205378
|
|
NM_001267550.2(TTN):c.7807A>G (p.Thr2603Ala)
|
rs775528928
|
|
NM_001267550.2(TTN):c.7862C>T (p.Ala2621Val)
|
rs753441258
|
|
NM_001267550.2(TTN):c.78676G>C (p.Glu26226Gln)
|
rs754878387
|
|
NM_001267550.2(TTN):c.79109G>A (p.Gly26370Glu)
|
rs727505061
|
|
NM_001267550.2(TTN):c.79148C>T (p.Pro26383Leu)
|
rs1377015752
|
|
NM_001267550.2(TTN):c.8131A>C (p.Lys2711Gln)
|
rs727504735
|
|
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter)
|
rs557312035
|
|
NM_001267550.2(TTN):c.81389C>T (p.Thr27130Ile)
|
rs757768218
|
|
NM_001267550.2(TTN):c.81431A>G (p.Glu27144Gly)
|
rs794729512
|
|
NM_001267550.2(TTN):c.81852_81857dup (p.Ile27285_Val27286dup)
|
rs773439628
|
|
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys)
|
rs55933739
|
|
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter)
|
rs779874042
|
|
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)
|
rs869178171
|
|
NM_001267550.2(TTN):c.82658G>C (p.Gly27553Ala)
|
rs753766297
|
|
NM_001267550.2(TTN):c.83165T>G (p.Ile27722Arg)
|
rs794729515
|
|
NM_001267550.2(TTN):c.83324dup (p.Arg27776fs)
|
rs2154160971
|
|
NM_001267550.2(TTN):c.84338C>T (p.Ser28113Phe)
|
rs753201539
|
|
NM_001267550.2(TTN):c.84376C>T (p.Gln28126Ter)
|
rs869312119
|
|
NM_001267550.2(TTN):c.86345C>T (p.Pro28782Leu)
|
rs561319491
|
|
NM_001267550.2(TTN):c.86426C>G (p.Ser28809Ter)
|
rs1553560951
|
|
NM_001267550.2(TTN):c.86497_86498delinsTT (p.Ala28833Phe)
|
rs794729519
|
|
NM_001267550.2(TTN):c.87343T>C (p.Tyr29115His)
|
rs1181280302
|
|
NM_001267550.2(TTN):c.87616GAA[1] (p.Glu29207del)
|
rs753636173
|
|
NM_001267550.2(TTN):c.88010-2dup
|
rs1701799962
|
|
NM_001267550.2(TTN):c.88067G>A (p.Trp29356Ter)
|
rs878854428
|
|
NM_001267550.2(TTN):c.88280G>A (p.Gly29427Glu)
|
rs1188741659
|
|
NM_001267550.2(TTN):c.88781C>A (p.Thr29594Lys)
|
rs1553545836
|
|
NM_001267550.2(TTN):c.88852G>A (p.Glu29618Lys)
|
rs879222602
|
|
NM_001267550.2(TTN):c.89018G>T (p.Arg29673Leu)
|
rs200639218
|
|
NM_001267550.2(TTN):c.89567A>G (p.Asp29856Gly)
|
rs1700105269
|
|
NM_001267550.2(TTN):c.89711G>T (p.Arg29904Leu)
|
rs397517744
|
|
NM_001267550.2(TTN):c.89861G>A (p.Trp29954Ter)
|
rs1060500457
|
|
NM_001267550.2(TTN):c.89900_89903del (p.Asn29967fs)
|
rs869312081
|
|
NM_001267550.2(TTN):c.90535C>G (p.Arg30179Gly)
|
rs769360937
|
|
NM_001267550.2(TTN):c.90715G>A (p.Ala30239Thr)
|
rs879126335
|
|
NM_001267550.2(TTN):c.90834T>A (p.Ser30278Arg)
|
rs397517751
|
|
NM_001267550.2(TTN):c.91271-20C>A
|
rs1461887959
|
|
NM_001267550.2(TTN):c.92991T>C (p.Thr30997=)
|
rs1553531443
|
|
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)
|
rs72648250
|
|
NM_001267550.2(TTN):c.93663C>T (p.Thr31221=)
|
rs1489398531
|
|
NM_001267550.2(TTN):c.93704T>C (p.Ile31235Thr)
|
rs1246425366
|
|
NM_001267550.2(TTN):c.93939C>T (p.Thr31313=)
|
rs771653811
|
|
NM_001267550.2(TTN):c.93988T>C (p.Trp31330Arg)
|
rs1553527043
|
|
NM_001267550.2(TTN):c.94180delinsTCTAGCAG (p.Pro31394fs)
|
rs727503547
|
|
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser)
|
rs190282707
|
|
NM_001267550.2(TTN):c.95968G>A (p.Val31990Met)
|
rs727503541
|
|
NM_001267550.2(TTN):c.96506T>C (p.Leu32169Pro)
|
rs2154143527
|
|
NM_001267550.2(TTN):c.96669G>A (p.Trp32223Ter)
|
rs2154143423
|
|
NM_001267550.2(TTN):c.96979G>A (p.Val32327Met)
|
rs956461857
|
|
NM_001267550.2(TTN):c.97129_97130dup (p.Leu32379fs)
|
rs748382770
|
|
NM_001267550.2(TTN):c.9761A>C (p.Lys3254Thr)
|
rs766499138
|
|
NM_001267550.2(TTN):c.98216C>A (p.Thr32739Asn)
|
rs886042542
|
|
NM_001267550.2(TTN):c.9839C>A (p.Ser3280Tyr)
|
rs747768723
|
|
NM_001267550.2(TTN):c.9875A>G (p.Gln3292Arg)
|
rs794729586
|
|
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu)
|
rs727504588
|
|
NM_001267550.2(TTN):c.99197C>G (p.Ala33066Gly)
|
rs1172364516
|
|
NM_001267550.2(TTN):c.99814C>T (p.Leu33272Phe)
|
rs397517780
|
|
NM_001276345.2(TNNT2):c.163G>T (p.Glu55Ter)
|
rs730881120
|
|
NM_001276345.2(TNNT2):c.282_283del (p.Arg94fs)
|
rs1259701355
|
|
NM_001276345.2(TNNT2):c.286G>A (p.Asp96Asn)
|
rs1553282768
|
|
NM_001276345.2(TNNT2):c.313A>G (p.Met105Val)
|
rs397516458
|
|
NM_001276345.2(TNNT2):c.321G>A (p.Lys107=)
|
rs397516459
|
|
NM_001276345.2(TNNT2):c.427G>C (p.Glu143Gln)
|
rs1316344347
|
|
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=)
|
rs74315379
|
|
NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys)
|
rs1558225569
|
|
NM_001276345.2(TNNT2):c.806A>G (p.Tyr269Cys)
|
rs1553280112
|
|
NM_001276345.2(TNNT2):c.812T>G (p.Ile271Ser)
|
rs371384395
|
|
NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile)
|
rs863225119
|
|
NM_001276345.2(TNNT2):c.865G>A (p.Gly289Arg)
|
rs757664792
|
|
NM_001289808.2(CRYAB):c.115C>T (p.Pro39Ser)
|
rs145768025
|
|
NM_001289808.2(CRYAB):c.16C>T (p.His6Tyr)
|
rs794728982
|
|
NM_001289808.2(CRYAB):c.319C>T (p.Arg107Cys)
|
rs782520163
|
|
NM_001289808.2(CRYAB):c.31C>G (p.Arg11Gly)
|
rs781902168
|
|
NM_001289808.2(CRYAB):c.324+13dup
|
rs782303631
|
|
NM_001347702.2(SYNE1):c.1510G>A (p.Gly504Arg)
|
rs746655221
|
|
NM_001368067.1(LDB3):c.849C>T (p.Ser283=)
|
rs1846156972
|
|
NM_001386795.1(DTNA):c.1289C>T (p.Ala430Val)
|
rs375890182
|
|
NM_001458.5(FLNC):c.1000C>T (p.Arg334Cys)
|
rs372497581
|
|
NM_001458.5(FLNC):c.1541A>C (p.Lys514Thr)
|
rs375881193
|
|
NM_001458.5(FLNC):c.1600G>C (p.Glu534Gln)
|
rs201905890
|
|
NM_001458.5(FLNC):c.1688T>C (p.Val563Ala)
|
rs774963796
|
|
NM_001458.5(FLNC):c.1935_1937del (p.Asp646del)
|
rs765300084
|
|
NM_001458.5(FLNC):c.2008-6G>A
|
rs577813339
|
|
NM_001458.5(FLNC):c.2062G>A (p.Ala688Thr)
|
rs774194364
|
|
NM_001458.5(FLNC):c.2485T>G (p.Phe829Val)
|
rs758056957
|
|
NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter)
|
rs886037830
|
|
NM_001458.5(FLNC):c.3055G>T (p.Gly1019Cys)
|
rs200864007
|
|
NM_001458.5(FLNC):c.3145_3146delinsTT (p.Gly1049Phe)
|
rs1585159401
|
|
NM_001458.5(FLNC):c.3193-2A>G
|
rs749889670
|
|
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val)
|
rs1114167361
|
|
NM_001458.5(FLNC):c.3799C>T (p.Arg1267Trp)
|
rs371483562
|
|
NM_001458.5(FLNC):c.4301G>A (p.Arg1434His)
|
rs143623535
|
|
NM_001458.5(FLNC):c.5448CAA[1] (p.Asn1817del)
|
rs1312829675
|
|
NM_001458.5(FLNC):c.6135G>C (p.Arg2045=)
|
rs1585168080
|
|
NM_001458.5(FLNC):c.6374C>G (p.Thr2125Ser)
|
rs371455516
|
|
NM_001458.5(FLNC):c.6716G>T (p.Arg2239Leu)
|
rs1350832784
|
|
NM_001458.5(FLNC):c.6799G>A (p.Val2267Ile)
|
rs758080422
|
|
NM_001458.5(FLNC):c.8069G>A (p.Arg2690Gln)
|
rs1585173273
|
|
NM_001458.5(FLNC):c.8118_8121delinsTATC (p.Leu2706_Ile2707=)
|
rs2128940705
|
|
NM_001927.4(DES):c.1078G>T (p.Ala360Ser)
|
rs121913000
|
|
NM_001927.4(DES):c.109C>G (p.Arg37Gly)
|
rs537881554
|
|
NM_001927.4(DES):c.1104_1105delinsAT (p.Arg369Cys)
|
rs2125168717
|
|
NM_001927.4(DES):c.114G>A (p.Ala38=)
|
rs368901105
|
|
NM_001927.4(DES):c.1244G>A (p.Arg415Gln)
|
rs1262288015
|
|
NM_001927.4(DES):c.1286G>A (p.Arg429Gln)
|
rs200580581
|
|
NM_001927.4(DES):c.182G>A (p.Gly61Asp)
|
rs1447436485
|
|
NM_001927.4(DES):c.245C>T (p.Ser82Phe)
|
rs1358038961
|
|
NM_001927.4(DES):c.322G>A (p.Glu108Lys)
|
rs62636490
|
|
NM_001927.4(DES):c.404C>G (p.Ala135Gly)
|
rs546741834
|
|
NM_001927.4(DES):c.466G>A (p.Glu156Lys)
|
rs765471098
|
|
NM_001927.4(DES):c.494A>G (p.Gln165Arg)
|
rs1369044757
|
|
NM_001927.4(DES):c.709G>A (p.Ala237Thr)
|
rs397516697
|
|
NM_001927.4(DES):c.897+4_897+5del
|
rs397516699
|
|
NM_001927.4(DES):c.93T>G (p.Ser31Arg)
|
rs2017800
|
|
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del)
|
rs727502987
|
|
NM_001943.5(DSG2):c.1256A>T (p.Asp419Val)
|
rs760135423
|
|
NM_001943.5(DSG2):c.1423+1G>T
|
rs1257877047
|
|
NM_001943.5(DSG2):c.1460T>C (p.Ile487Thr)
|
rs776525113
|
|
NM_001943.5(DSG2):c.1605C>A (p.Asp535Glu)
|
rs368718022
|
|
NM_001943.5(DSG2):c.1811A>G (p.His604Arg)
|
rs1359949181
|
|
NM_001943.5(DSG2):c.1826dup (p.Leu610fs)
|
rs1039633976
|
|
NM_001943.5(DSG2):c.2257del (p.Ala753fs)
|
rs1567933176
|
|
NM_001943.5(DSG2):c.2575A>G (p.Thr859Ala)
|
rs886039011
|
|
NM_001943.5(DSG2):c.2646CTC[1] (p.Ser884del)
|
rs794728095
|
|
NM_001943.5(DSG2):c.2727A>C (p.Glu909Asp)
|
rs771675609
|
|
NM_001943.5(DSG2):c.2948G>A (p.Gly983Asp)
|
rs746359987
|
|
NM_001943.5(DSG2):c.2976A>G (p.Ile992Met)
|
rs776686758
|
|
NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs)
|
rs397516706
|
|
NM_001943.5(DSG2):c.3140C>G (p.Thr1047Arg)
|
rs397516707
|
|
NM_001943.5(DSG2):c.3144_3147del (p.Arg1049fs)
|
rs758822081
|
|
NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val)
|
rs200264407
|
|
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn)
|
rs386802145
|
|
NM_001943.5(DSG2):c.45+5G>C
|
rs1423214260
|
|
NM_001943.5(DSG2):c.47T>C (p.Ile16Thr)
|
rs1478351535
|
|
NM_001943.5(DSG2):c.495dup (p.Gly166fs)
|
rs781532110
|
|
NM_001943.5(DSG2):c.512_516del (p.Leu171fs)
|
rs1568105371
|
|
NM_001943.5(DSG2):c.523+1_523+2del
|
rs1598810829
|
|
NM_001943.5(DSG2):c.875G>A (p.Arg292His)
|
rs185821167
|
|
NM_001943.5(DSG2):c.882dup (p.Val295fs)
|
rs1187924885
|
|
NM_001943.5(DSG2):c.914A>G (p.Asn305Ser)
|
rs2073152820
|
|
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)
|
rs121913007
|
|
NM_001943.5(DSG2):c.98A>C (p.Asn33Thr)
|
rs727505205
|
|
NM_001985.3(ETFB):c.58-196_58-194del
|
rs768440463
|
|
NM_002230.4(JUP):c.*1026G>A
|
rs187950810
|
|
NM_002230.4(JUP):c.1040C>T (p.Ala347Val)
|
rs1915466603
|
|
NM_002230.4(JUP):c.143C>A (p.Ala48Asp)
|
rs2143735114
|
|
NM_002230.4(JUP):c.1849G>A (p.Ala617Thr)
|
rs397517299
|
|
NM_002230.4(JUP):c.1948T>C (p.Phe650Leu)
|
rs1208908708
|
|
NM_002230.4(JUP):c.2055C>T (p.Ser685=)
|
rs1913708075
|
|
NM_002230.4(JUP):c.2227A>G (p.Met743Val)
|
rs1913591137
|
|
NM_002230.4(JUP):c.228G>A (p.Met76Ile)
|
rs202091411
|
|
NM_002230.4(JUP):c.389TCA[1] (p.Ile131del)
|
rs781818082
|
|
NM_002230.4(JUP):c.468G>A (p.Pro156=)
|
rs886037753
|
|
NM_002230.4(JUP):c.487G>A (p.Ala163Thr)
|
rs782239920
|
|
NM_002230.4(JUP):c.568G>C (p.Val190Leu)
|
rs370143312
|
|
NM_002230.4(JUP):c.754A>G (p.Asn252Asp)
|
rs1915923358
|
|
NM_002230.4(JUP):c.820G>A (p.Val274Met)
|
rs1555604537
|
|
NM_002230.4(JUP):c.859A>G (p.Ile287Val)
|
rs1567815934
|
|
NM_002230.4(JUP):c.959G>A (p.Arg320His)
|
rs781965392
|
|
NM_002471.4(MYH6):c.1002+1G>T
|
rs776627067
|
|
NM_002471.4(MYH6):c.1007C>G (p.Ala336Gly)
|
rs138572790
|
|
NM_002471.4(MYH6):c.1100A>T (p.Gln367Leu)
|
rs2138615086
|
|
NM_002471.4(MYH6):c.1138G>A (p.Glu380Lys)
|
rs768924353
|
|
NM_002471.4(MYH6):c.1185C>A (p.Asp395Glu)
|
rs201822160
|
|
NM_002471.4(MYH6):c.1408G>A (p.Asp470Asn)
|
rs777651128
|
|
NM_002471.4(MYH6):c.1521T>G (p.Ile507Met)
|
rs142410102
|
|
NM_002471.4(MYH6):c.1793dup (p.Asn598fs)
|
rs774500922
|
|
NM_002471.4(MYH6):c.1868C>T (p.Ser623Phe)
|
rs764362016
|
|
NM_002471.4(MYH6):c.201G>C (p.Lys67Asn)
|
rs757559746
|
|
NM_002471.4(MYH6):c.2051-2A>G
|
rs2138604704
|
|
NM_002471.4(MYH6):c.2293-2A>C
|
rs2138603387
|
|
NM_002471.4(MYH6):c.2428A>G (p.Arg810Gly)
|
rs1060501428
|
|
NM_002471.4(MYH6):c.2440C>A (p.Leu814Met)
|
rs150675144
|
|
NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp)
|
rs369274077
|
|
NM_002471.4(MYH6):c.2578C>T (p.Arg860Cys)
|
rs1025146248
|
|
NM_002471.4(MYH6):c.2717G>A (p.Arg906His)
|
rs527636904
|
|
NM_002471.4(MYH6):c.325T>C (p.Tyr109His)
|
rs926609805
|
|
NM_002471.4(MYH6):c.3346C>T (p.Arg1116Cys)
|
rs372446459
|
|
NM_002471.4(MYH6):c.3447C>T (p.Ser1149=)
|
rs564367705
|
|
NM_002471.4(MYH6):c.3541G>C (p.Glu1181Gln)
|
rs1033416176
|
|
NM_002471.4(MYH6):c.3562G>A (p.Glu1188Lys)
|
rs767223211
|
|
NM_002471.4(MYH6):c.3578C>T (p.Ala1193Val)
|
rs1038940910
|
|
NM_002471.4(MYH6):c.3979-11_3979-9delinsG
|
rs368229372
|
|
NM_002471.4(MYH6):c.3979-3dup
|
rs770492637
|
|
NM_002471.4(MYH6):c.3979-7_3979-4del
|
rs745326238
|
|
NM_002471.4(MYH6):c.3979-8C>T
|
rs555976716
|
|
NM_002471.4(MYH6):c.3979-9_3979-7delinsGC
|
rs796876119
|
|
NM_002471.4(MYH6):c.427C>T (p.Arg143Trp)
|
rs2277473
|
|
NM_002471.4(MYH6):c.4318G>C (p.Ala1440Pro)
|
rs137983703
|
|
NM_002471.4(MYH6):c.4360-7C>T
|
rs58949384
|
|
NM_002471.4(MYH6):c.4395_4396delinsAG (p.Gln1466Glu)
|
rs1555333437
|
|
NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys)
|
rs201989347
|
|
NM_002471.4(MYH6):c.4685G>T (p.Arg1562Leu)
|
rs371068881
|
|
NM_002471.4(MYH6):c.5002G>C (p.Asp1668His)
|
rs200884672
|
|
NM_002471.4(MYH6):c.5392C>T (p.Arg1798Trp)
|
rs767251436
|
|
NM_002471.4(MYH6):c.5628G>T (p.Lys1876Asn)
|
rs1390751455
|
|
NM_002471.4(MYH6):c.5662-2A>G
|
rs2138578417
|
|
NM_002471.4(MYH6):c.5692T>G (p.Phe1898Val)
|
rs762923098
|
|
NM_002471.4(MYH6):c.569G>A (p.Arg190His)
|
rs1891729151
|
|
NM_002471.4(MYH6):c.616AAG[1] (p.Lys207del)
|
rs1404018896
|
|
NM_002471.4(MYH6):c.694G>A (p.Gly232Ser)
|
rs587782960
|
|
NM_002471.4(MYH6):c.730C>T (p.Arg244Cys)
|
rs759116118
|
|
NM_002471.4(MYH6):c.864C>G (p.Tyr288Ter)
|
rs186265521
|
|
NM_002524.5(NRAS):c.25G>A (p.Val9Ile)
|
rs1553244682
|
|
NM_002755.4(MAP2K1):c.291+14_291+20delinsTCTCACCAATCACCA
|
rs1064795401
|
|
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu)
|
rs727504819
|
|
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp)
|
rs876657651
|
|
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)
|
rs121908595
|
|
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile)
|
rs1214510641
|
|
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)
|
rs397507501
|
|
NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp)
|
rs1355732645
|
|
NM_002834.5(PTPN11):c.127C>G (p.Leu43Val)
|
rs1566164987
|
|
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe)
|
rs1566164987
|
|
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)
|
rs397507539
|
|
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His)
|
rs397507540
|
|
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)
|
rs397507540
|
|
NM_002834.5(PTPN11):c.1498C>G (p.Gln500Glu)
|
rs2038714548
|
|
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr)
|
rs121918458
|
|
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)
|
rs397507545
|
|
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)
|
rs397507545
|
|
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)
|
rs397507547
|
|
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His)
|
rs397507550
|
|
NM_002834.5(PTPN11):c.1685C>T (p.Pro562Leu)
|
rs2038884191
|
|
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys)
|
rs397507506
|
|
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser)
|
rs397507507
|
|
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)
|
rs121918461
|
|
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)
|
rs121918460
|
|
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser)
|
rs121918453
|
|
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)
|
rs121918454
|
|
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)
|
rs121918462
|
|
NM_002834.5(PTPN11):c.222G>A (p.Leu74=)
|
rs1429492147
|
|
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp)
|
rs397507514
|
|
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)
|
rs121918466
|
|
NM_002834.5(PTPN11):c.289G>A (p.Glu97Lys)
|
rs397507516
|
|
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly)
|
rs397507519
|
|
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)
|
rs397507520
|
|
NM_002834.5(PTPN11):c.519C>G (p.Arg173=)
|
rs767425313
|
|
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)
|
rs267606990
|
|
NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter)
|
rs2038154558
|
|
NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del)
|
rs397507524
|
|
NM_002834.5(PTPN11):c.770A>G (p.Gln257Arg)
|
rs2038442309
|
|
NM_002834.5(PTPN11):c.788A>G (p.Tyr263Cys)
|
rs763617831
|
|
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)
|
rs397507527
|
|
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)
|
rs397507531
|
|
NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly)
|
rs2135901005
|
|
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr)
|
rs121918455
|
|
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)
|
rs121918455
|
|
NM_002880.3(RAF1):c.-340_-339GA[1]
|
rs527774250
|
|
NM_002880.4(RAF1):c.-204G>C
|
rs547543588
|
|
NM_002880.4(RAF1):c.-59C>G
|
rs201603517
|
|
NM_002880.4(RAF1):c.1463G>A (p.Gly488Asp)
|
rs865862568
|
|
NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn)
|
rs773583951
|
|
NM_002880.4(RAF1):c.1867C>T (p.Pro623Ser)
|
rs373596121
|
|
NM_002880.4(RAF1):c.438C>A (p.Phe146Leu)
|
rs794727717
|
|
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)
|
rs80338796
|
|
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala)
|
rs121434594
|
|
NM_002880.4(RAF1):c.788T>A (p.Val263Asp)
|
rs397516830
|
|
NM_003239.5(TGFB3):c.-440CTT[2]
|
rs774422953
|
|
NM_003239.5(TGFB3):c.-536del
|
rs71451199
|
|
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter)
|
rs1060502827
|
|
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs)
|
rs1555360047
|
|
NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu)
|
rs1248127840
|
|
NM_003239.5(TGFB3):c.1A>G (p.Met1Val)
|
rs375153534
|
|
NM_003239.5(TGFB3):c.353-14_353-10del
|
rs1422599707
|
|
NM_003239.5(TGFB3):c.756C>T (p.Gly252=)
|
rs369435862
|
|
NM_003280.3(TNNC1):c.175dup (p.Glu59fs)
|
rs1060502609
|
|
NM_003280.3(TNNC1):c.202G>A (p.Gly68Ser)
|
rs1267940563
|
|
NM_003476.4(CSRP3):c.-195G>A
|
rs569978006
|
|
NM_003476.5(CSRP3):c.*159C>T
|
rs886048095
|
|
NM_003476.5(CSRP3):c.*559G>A
|
rs45606836
|
|
NM_003476.5(CSRP3):c.149C>A (p.Ala50Glu)
|
rs139805841
|
|
NM_003476.5(CSRP3):c.149C>T (p.Ala50Val)
|
rs139805841
|
|
NM_003476.5(CSRP3):c.159G>C (p.Glu53Asp)
|
rs1253887422
|
|
NM_003476.5(CSRP3):c.208G>T (p.Gly70Trp)
|
rs777211110
|
|
NM_003476.5(CSRP3):c.286_287del (p.Pro96fs)
|
rs960577385
|
|
NM_003476.5(CSRP3):c.335C>T (p.Ala112Val)
|
rs753711278
|
|
NM_003476.5(CSRP3):c.354G>C (p.Glu118Asp)
|
rs876657767
|
|
NM_003673.4(TCAP):c.110_110+1del
|
rs786205076
|
|
NM_003673.4(TCAP):c.294_295delinsAG (p.Met99Val)
|
rs2057251619
|
|
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys)
|
rs146906267
|
|
NM_003673.4(TCAP):c.341A>G (p.Gln114Arg)
|
rs1355624192
|
|
NM_003673.4(TCAP):c.457C>A (p.Arg153Ser)
|
rs761498487
|
|
NM_003673.4(TCAP):c.478A>G (p.Met160Val)
|
rs1057106389
|
|
NM_003673.4(TCAP):c.50_51delinsCT (p.Arg17Pro)
|
rs1555606961
|
|
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del)
|
rs886042840
|
|
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter)
|
rs398123832
|
|
NM_004006.3(DMD):c.10554-29_10554-20del
|
rs200138464
|
|
NM_004006.3(DMD):c.1097G>A (p.Gly366Glu)
|
rs763144501
|
|
NM_004006.3(DMD):c.11031A>G (p.Gly3677=)
|
rs2147665754
|
|
NM_004006.3(DMD):c.1375G>T (p.Glu459Ter)
|
rs2149350253
|
|
NM_004006.3(DMD):c.1693A>T (p.Thr565Ser)
|
rs766450050
|
|
NM_004006.3(DMD):c.1788G>A (p.Met596Ile)
|
rs2052669244
|
|
NM_004006.3(DMD):c.1826A>G (p.Asp609Gly)
|
rs2149095572
|
|
NM_004006.3(DMD):c.1851G>A (p.Met617Ile)
|
rs1238073206
|
|
NM_004006.3(DMD):c.1915A>C (p.Lys639Gln)
|
rs2149094935
|
|
NM_004006.3(DMD):c.2273A>G (p.Asp758Gly)
|
rs750526692
|
|
NM_004006.3(DMD):c.2328A>G (p.Lys776=)
|
rs1603634973
|
|
NM_004006.3(DMD):c.2330T>C (p.Leu777Pro)
|
rs794727226
|
|
NM_004006.3(DMD):c.3137A>C (p.Gln1046Pro)
|
rs2040288189
|
|
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter)
|
rs398123929
|
|
NM_004006.3(DMD):c.3190A>G (p.Met1064Val)
|
rs1281398911
|
|
NM_004006.3(DMD):c.365A>C (p.Asn122Thr)
|
rs1603437369
|
|
NM_004006.3(DMD):c.3954T>A (p.Asp1318Glu)
|
rs2098269308
|
|
NM_004006.3(DMD):c.4477G>A (p.Val1493Met)
|
rs2097986154
|
|
NM_004006.3(DMD):c.4741A>G (p.Asn1581Asp)
|
rs727503831
|
|
NM_004006.3(DMD):c.4899G>T (p.Glu1633Asp)
|
rs886044407
|
|
NM_004006.3(DMD):c.4987G>A (p.Val1663Ile)
|
rs2147259228
|
|
NM_004006.3(DMD):c.5324_5325delinsGT (p.Lys1775Ser)
|
rs1557303381
|
|
NM_004006.3(DMD):c.583C>T (p.Arg195Ter)
|
rs398123999
|
|
NM_004006.3(DMD):c.5922+3G>C
|
rs398124000
|
|
NM_004006.3(DMD):c.6471TGT[3] (p.Val2159dup)
|
rs1395996899
|
|
NM_004006.3(DMD):c.6839G>A (p.Ser2280Asn)
|
rs1060502614
|
|
NM_004006.3(DMD):c.7514A>T (p.Asp2505Val)
|
rs2090505173
|
|
NM_004006.3(DMD):c.803T>C (p.Leu268Ser)
|
rs939491009
|
|
NM_004006.3(DMD):c.8150A>G (p.Asp2717Gly)
|
rs886043271
|
|
NM_004006.3(DMD):c.8391-1_8391delinsAA
|
rs1060502619
|
|
NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter)
|
rs128627256
|
|
NM_004006.3(DMD):c.8794A>T (p.Thr2932Ser)
|
rs2067958322
|
|
NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser)
|
rs200928985
|
|
NM_004006.3(DMD):c.94-9dup
|
rs3834997
|
|
NM_004006.3(DMD):c.960G>A (p.Gln320=)
|
rs772656026
|
|
NM_004100.5(EYA4):c.*1532G>A
|
rs776008831
|
|
NM_004100.5(EYA4):c.1358C>A (p.Thr453Asn)
|
rs1321644184
|
|
NM_004100.5(EYA4):c.32C>T (p.Ser11Leu)
|
rs1394230343
|
|
NM_004100.5(EYA4):c.686C>T (p.Pro229Leu)
|
rs769220102
|
|
NM_004100.5(EYA4):c.824C>T (p.Ala275Val)
|
rs748654006
|
|
NM_004100.5(EYA4):c.978C>G (p.Phe326Leu)
|
rs773095472
|
|
NM_004168.4(SDHA):c.1273G>A (p.Val425Met)
|
rs201822097
|
|
NM_004168.4(SDHA):c.13C>T (p.Arg5Trp)
|
rs770866830
|
|
NM_004168.4(SDHA):c.14G>A (p.Arg5Gln)
|
rs779027774
|
|
NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln)
|
rs192818312
|
|
NM_004168.4(SDHA):c.1579del (p.Arg527fs)
|
rs1579437839
|
|
NM_004168.4(SDHA):c.1663+1G>A
|
rs766667009
|
|
NM_004168.4(SDHA):c.169G>T (p.Val57Leu)
|
rs1060503724
|
|
NM_004168.4(SDHA):c.204C>T (p.Gly68=)
|
rs1055082816
|
|
NM_004168.4(SDHA):c.2T>G (p.Met1Arg)
|
rs750380279
|
|
NM_004168.4(SDHA):c.365A>G (p.His122Arg)
|
rs1579384131
|
|
NM_004168.4(SDHA):c.40C>T (p.Arg14Trp)
|
rs1192077362
|
|
NM_004168.4(SDHA):c.456+1G>A
|
rs1579384604
|
|
NM_004168.4(SDHA):c.484del (p.Arg162fs)
|
rs1734988578
|
|
NM_004168.4(SDHA):c.559C>T (p.His187Tyr)
|
rs1579385898
|
|
NM_004168.4(SDHA):c.688del (p.Glu230fs)
|
rs1553998199
|
|
NM_004168.4(SDHA):c.762_770+17del
|
rs1041809852
|
|
NM_004168.4(SDHA):c.994C>T (p.Pro332Ser)
|
rs373509391
|
|
NM_004168.4(SDHA):c.997G>C (p.Val333Leu)
|
rs1062468
|
|
NM_004281.4(BAG3):c.-319C>T
|
rs987450541
|
|
NM_004281.4(BAG3):c.1232_1234del (p.Gly411del)
|
rs761727804
|
|
NM_004281.4(BAG3):c.1307A>G (p.Glu436Gly)
|
rs1847245034
|
|
NM_004281.4(BAG3):c.1554T>A (p.Asp518Glu)
|
rs139125612
|
|
NM_004281.4(BAG3):c.155C>G (p.Pro52Arg)
|
rs1846845477
|
|
NM_004281.4(BAG3):c.268C>T (p.Arg90Ter)
|
rs1057517945
|
|
NM_004281.4(BAG3):c.289C>T (p.Pro97Ser)
|
rs747274078
|
|
NM_004281.4(BAG3):c.451_452inv (p.Cys151His)
|
|
|
NM_004281.4(BAG3):c.49G>C (p.Gly17Arg)
|
rs727502895
|
|
NM_004281.4(BAG3):c.549CTC[1] (p.Ser185del)
|
rs763170019
|
|
NM_004281.4(BAG3):c.574G>T (p.Gly192Cys)
|
rs201487919
|
|
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter)
|
rs1554875409
|
|
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter)
|
rs869248137
|
|
NM_004333.6(BRAF):c.1205C>A (p.Pro402His)
|
rs199927105
|
|
NM_004333.6(BRAF):c.1206C>A (p.Pro402=)
|
rs201758035
|
|
NM_004333.6(BRAF):c.124G>T (p.Ala42Ser)
|
rs2129153151
|
|
NM_004333.6(BRAF):c.1432+17_1432+19del
|
rs777363183
|
|
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser)
|
rs397507475
|
|
NM_004333.6(BRAF):c.1719C>A (p.Ile573=)
|
rs2128999629
|
|
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys)
|
rs397516895
|
|
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)
|
rs180177042
|
|
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys)
|
rs1562939198
|
|
NM_004333.6(BRAF):c.1992+16G>C
|
rs3789806
|
|
NM_004333.6(BRAF):c.2128-27_2128-19del
|
rs761539834
|
|
NM_004333.6(BRAF):c.260G>A (p.Ser87Asn)
|
rs1033856250
|
|
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)
|
rs387906661
|
|
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)
|
rs387906660
|
|
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)
|
rs397507466
|
|
NM_004415.4(DSP):c.-70C>T
|
rs1757982573
|
|
NM_004415.4(DSP):c.1044+3A>C
|
rs765089914
|
|
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys)
|
rs780626687
|
|
NM_004415.4(DSP):c.1067C>T (p.Thr356Met)
|
rs780626687
|
|
NM_004415.4(DSP):c.1135T>A (p.Phe379Ile)
|
rs757853478
|
|
NM_004415.4(DSP):c.1331A>C (p.Lys444Thr)
|
rs1554106843
|
|
NM_004415.4(DSP):c.1483G>T (p.Val495Leu)
|
rs372014020
|
|
NM_004415.4(DSP):c.1483_1485delinsTTT (p.Val495Phe)
|
rs1064795582
|
|
NM_004415.4(DSP):c.1556C>T (p.Ala519Val)
|
rs1395532173
|
|
NM_004415.4(DSP):c.170+1G>A
|
rs1309931610
|
|
NM_004415.4(DSP):c.178G>A (p.Gly60Ser)
|
rs982933033
|
|
NM_004415.4(DSP):c.1865T>G (p.Leu622Arg)
|
rs1554107098
|
|
NM_004415.4(DSP):c.2075C>T (p.Pro692Leu)
|
rs1561690890
|
|
NM_004415.4(DSP):c.2091A>T (p.Gly697=)
|
rs2076304
|
|
NM_004415.4(DSP):c.2153C>T (p.Ala718Val)
|
rs764290255
|
|
NM_004415.4(DSP):c.2161G>A (p.Glu721Lys)
|
rs963374775
|
|
NM_004415.4(DSP):c.2432T>C (p.Leu811Pro)
|
rs869025391
|
|
NM_004415.4(DSP):c.2436+16A>G
|
rs199555263
|
|
NM_004415.4(DSP):c.2441T>C (p.Ile814Thr)
|
rs1393048121
|
|
NM_004415.4(DSP):c.2623G>A (p.Asp875Asn)
|
rs200338012
|
|
NM_004415.4(DSP):c.2631-13dup
|
rs1455610668
|
|
NM_004415.4(DSP):c.3005G>C (p.Arg1002Pro)
|
rs371234425
|
|
NM_004415.4(DSP):c.3019C>T (p.Leu1007Phe)
|
rs1018173692
|
|
NM_004415.4(DSP):c.3325G>A (p.Glu1109Lys)
|
rs367763339
|
|
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys)
|
rs777407386
|
|
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln)
|
rs876657795
|
|
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile)
|
rs138599871
|
|
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs)
|
rs1561698362
|
|
NM_004415.4(DSP):c.4069GAG[1] (p.Glu1358del)
|
rs777457799
|
|
NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp)
|
rs569786610
|
|
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)
|
rs770873593
|
|
NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile)
|
rs730880090
|
|
NM_004415.4(DSP):c.4541T>C (p.Leu1514Pro)
|
rs1173680775
|
|
NM_004415.4(DSP):c.4558A>G (p.Ser1520Gly)
|
rs780953141
|
|
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile)
|
rs397516941
|
|
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg)
|
rs796530013
|
|
NM_004415.4(DSP):c.4763_4765del (p.Ser1588del)
|
rs1010996982
|
|
NM_004415.4(DSP):c.47G>C (p.Arg16Pro)
|
rs752387234
|
|
NM_004415.4(DSP):c.4835T>C (p.Ile1612Thr)
|
rs1581818435
|
|
NM_004415.4(DSP):c.484C>G (p.Arg162Gly)
|
rs760711308
|
|
NM_004415.4(DSP):c.485G>A (p.Arg162His)
|
rs397516944
|
|
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs)
|
rs1554108410
|
|
NM_004415.4(DSP):c.4900C>T (p.Arg1634Trp)
|
rs973569441
|
|
NM_004415.4(DSP):c.4901G>T (p.Arg1634Leu)
|
rs144106775
|
|
NM_004415.4(DSP):c.5116C>T (p.Leu1706=)
|
rs1759432452
|
|
NM_004415.4(DSP):c.526A>G (p.Ser176Gly)
|
rs1426245453
|
|
NM_004415.4(DSP):c.5327A>G (p.Glu1776Gly)
|
rs1363204936
|
|
NM_004415.4(DSP):c.5933T>C (p.Met1978Thr)
|
rs1322656621
|
|
NM_004415.4(DSP):c.6055G>A (p.Ala2019Thr)
|
rs771974957
|
|
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs)
|
rs397514040
|
|
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp)
|
rs374090050
|
|
NM_004415.4(DSP):c.6441C>T (p.Val2147=)
|
rs762513279
|
|
NM_004415.4(DSP):c.647A>C (p.Gln216Pro)
|
rs1758736357
|
|
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs)
|
rs1561702640
|
|
NM_004415.4(DSP):c.6526G>A (p.Val2176Ile)
|
rs746533703
|
|
NM_004415.4(DSP):c.6577G>A (p.Glu2193Lys)
|
rs397516952
|
|
NM_004415.4(DSP):c.685G>A (p.Gly229Ser)
|
rs376185352
|
|
NM_004415.4(DSP):c.694C>T (p.Arg232Cys)
|
rs777847026
|
|
NM_004415.4(DSP):c.699G>A (p.Trp233Ter)
|
rs397516955
|
|
NM_004415.4(DSP):c.727C>T (p.Arg243Cys)
|
rs1191710190
|
|
NM_004415.4(DSP):c.7347GAA[1] (p.Lys2451del)
|
rs766860183
|
|
NM_004415.4(DSP):c.7477T>G (p.Phe2493Val)
|
rs138798656
|
|
NM_004415.4(DSP):c.78G>T (p.Leu26=)
|
rs71559180
|
|
NM_004415.4(DSP):c.8488C>T (p.Arg2830Cys)
|
rs1354218745
|
|
NM_004453.4(ETFDH):c.1073G>A (p.Arg358Lys)
|
rs796051959
|
|
NM_004453.4(ETFDH):c.25T>A (p.Ser9Thr)
|
rs1175266968
|
|
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)
|
rs549150456
|
|
NM_004985.5(KRAS):c.112-9C>T
|
rs727504298
|
|
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile)
|
rs1951383854
|
|
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)
|
rs104894360
|
|
NM_004999.4(MYO6):c.1546+7_1546+8del
|
rs3831003
|
|
NM_004999.4(MYO6):c.2972G>T (p.Arg991Leu)
|
rs529167250
|
|
NM_005138.3(SCO2):c.508G>C (p.Glu170Gln)
|
rs753614511
|
|
NM_005138.3(SCO2):c.652dup (p.Gln218fs)
|
rs2148670938
|
|
NM_005159.4(ACTC1):c.*388G>C
|
rs1370154
|
|
NM_005159.5(ACTC1):c.10G>A (p.Asp4Asn)
|
rs730880408
|
|
NM_005159.5(ACTC1):c.532A>T (p.Met178Leu)
|
rs1555418829
|
|
NM_005159.5(ACTC1):c.713T>C (p.Leu238Pro)
|
rs770397773
|
|
NM_005159.5(ACTC1):c.809-58TG[29]
|
rs59431308
|
|
NM_005343.4(HRAS):c.291-6T>G
|
rs766909143
|
|
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)
|
rs104894229
|
|
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)
|
rs104894230
|
|
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)
|
rs104894228
|
|
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)
|
rs104894226
|
|
NM_005343.4(HRAS):c.481C>T (p.Arg161Cys)
|
rs758956556
|
|
NM_005343.4(HRAS):c.491G>C (p.Arg164Pro)
|
rs753977266
|
|
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys)
|
rs80338938
|
|
NM_005633.4(SOS1):c.*1535G>A
|
rs1668487434
|
|
NM_005633.4(SOS1):c.*1694del
|
rs767903412
|
|
NM_005633.4(SOS1):c.*3149C>T
|
rs541644361
|
|
NM_005633.4(SOS1):c.*4077G>T
|
rs763838346
|
|
NM_005633.4(SOS1):c.1098T>A (p.Asp366Glu)
|
rs730881040
|
|
NM_005633.4(SOS1):c.1286T>C (p.Ile429Thr)
|
rs755862687
|
|
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg)
|
rs397517149
|
|
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)
|
rs137852814
|
|
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser)
|
rs267607079
|
|
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser)
|
rs267607079
|
|
NM_005633.4(SOS1):c.1670C>T (p.Thr557Ile)
|
rs1245953394
|
|
NM_005633.4(SOS1):c.1770G>C (p.Glu590Asp)
|
rs553331572
|
|
NM_005633.4(SOS1):c.2104T>C (p.Tyr702His)
|
rs727505381
|
|
NM_005633.4(SOS1):c.23A>T (p.Tyr8Phe)
|
rs781093356
|
|
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys)
|
rs397517159
|
|
NM_005633.4(SOS1):c.25G>A (p.Glu9Lys)
|
rs1347187972
|
|
NM_005633.4(SOS1):c.2674-9dup
|
rs532594344
|
|
NM_005633.4(SOS1):c.3242A>G (p.Asn1081Ser)
|
rs992722303
|
|
NM_005633.4(SOS1):c.3248dup (p.Arg1084fs)
|
rs387906518
|
|
NM_005633.4(SOS1):c.3598_3599delinsAC (p.Asp1200Thr)
|
rs1572796492
|
|
NM_005633.4(SOS1):c.3956T>G (p.Met1319Arg)
|
rs730881036
|
|
NM_005633.4(SOS1):c.487A>G (p.Lys163Glu)
|
rs886042206
|
|
NM_005633.4(SOS1):c.742C>T (p.Arg248Cys)
|
rs1671008126
|
|
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys)
|
rs137852812
|
|
NM_005633.4(SOS1):c.87+6G>T
|
rs777383378
|
|
NM_005633.4(SOS1):c.976-3dup
|
rs745490729
|
|
NM_005921.2(MAP3K1):c.835-11dup
|
rs201780112
|
|
NM_006073.4(TRDN):c.1055C>T (p.Pro352Leu)
|
rs754708708
|
|
NM_006073.4(TRDN):c.1150A>G (p.Lys384Glu)
|
rs1159691201
|
|
NM_006073.4(TRDN):c.1223A>C (p.Lys408Thr)
|
rs2114402336
|
|
NM_006073.4(TRDN):c.1233_1234dup (p.Lys412fs)
|
rs778198100
|
|
NM_006073.4(TRDN):c.1282C>G (p.Arg428Gly)
|
rs202219343
|
|
NM_006073.4(TRDN):c.1300_1308del (p.Gly434_Val436del)
|
rs765757457
|
|
NM_006073.4(TRDN):c.1304C>T (p.Ala435Val)
|
rs370712881
|
|
NM_006073.4(TRDN):c.1700C>A (p.Ala567Asp)
|
rs545470302
|
|
NM_006073.4(TRDN):c.233-14_233-13del
|
rs66509682
|
|
NM_006073.4(TRDN):c.391+1G>A
|
rs2114436209
|
|
NM_006073.4(TRDN):c.410C>T (p.Pro137Leu)
|
rs1242484153
|
|
NM_006073.4(TRDN):c.531del (p.Glu178fs)
|
rs1432170970
|
|
NM_006172.4(NPPA):c.25G>A (p.Val9Met)
|
rs143419574
|
|
NM_006206.6(PDGFRA):c.1651C>A (p.Gln551Lys)
|
rs770950644
|
|
NM_006206.6(PDGFRA):c.878G>A (p.Arg293His)
|
rs373948582
|
|
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)
|
rs747430075
|
|
NM_006767.4(LZTR1):c.1235G>A (p.Arg412His)
|
rs935736801
|
|
NM_006767.4(LZTR1):c.1620T>C (p.His540=)
|
rs141610191
|
|
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)
|
rs869320686
|
|
NM_006912.6(RIT1):c.11G>A (p.Gly4Glu)
|
rs2102591253
|
|
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro)
|
rs869025191
|
|
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)
|
rs869025193
|
|
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)
|
rs730881014
|
|
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
|
|
|
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)
|
rs672601335
|
|
NM_006939.4(SOS2):c.1263T>C (p.Asn421=)
|
rs369267864
|
|
NM_006939.4(SOS2):c.1861T>G (p.Phe621Val)
|
rs1555370029
|
|
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup)
|
rs765097073
|
|
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
|
|
|
NM_007078.3(LDB3):c.1289C>G (p.Thr430Ser)
|
rs746183666
|
|
NM_007078.3(LDB3):c.1459C>T (p.Arg487Cys)
|
rs950395877
|
|
NM_007078.3(LDB3):c.145G>C (p.Val49Leu)
|
rs200645175
|
|
NM_007078.3(LDB3):c.1565C>T (p.Thr522Ile)
|
rs1846888303
|
|
NM_007078.3(LDB3):c.1567C>G (p.Pro523Ala)
|
rs794729062
|
|
NM_007078.3(LDB3):c.1603_1605delinsTGCCACTCA (p.Thr535delinsCysHisSer)
|
rs1589675306
|
|
NM_007078.3(LDB3):c.1607T>C (p.Val536Ala)
|
rs727503128
|
|
NM_007078.3(LDB3):c.1618G>T (p.Glu540Ter)
|
rs1004518756
|
|
NM_007078.3(LDB3):c.1789T>C (p.Tyr597His)
|
rs727503131
|
|
NM_007078.3(LDB3):c.390AGGCACCCC[1] (p.131GTP[1])
|
rs750334087
|
|
NM_007078.3(LDB3):c.548del (p.Pro183fs)
|
rs1285270306
|
|
NM_007078.3(LDB3):c.55G>C (p.Gly19Arg)
|
rs777413488
|
|
NM_007078.3(LDB3):c.672T>C (p.Gly224=)
|
rs2132373056
|
|
NM_007078.3(LDB3):c.886C>T (p.Arg296Ter)
|
rs1060501316
|
|
NM_007078.3(LDB3):c.892T>C (p.Ser298Pro)
|
rs953198544
|
|
NM_007373.4(SHOC2):c.1555C>G (p.Leu519Val)
|
rs2134182984
|
|
NM_007373.4(SHOC2):c.514C>T (p.Arg172Trp)
|
rs1057517872
|
|
NM_013266.4(CTNNA3):c.2265+1del
|
rs2078476986
|
|
NM_013266.4(CTNNA3):c.431T>C (p.Val144Ala)
|
rs758058375
|
|
NM_014000.3(VCL):c.*1794G>A
|
rs577038840
|
|
NM_014000.3(VCL):c.1132A>G (p.Thr378Ala)
|
rs2131907756
|
|
NM_014000.3(VCL):c.1225C>G (p.Arg409Gly)
|
rs202005455
|
|
NM_014000.3(VCL):c.1296_1297inv (p.Arg433Cys)
|
|
|
NM_014000.3(VCL):c.1354G>A (p.Gly452Arg)
|
rs1015527957
|
|
NM_014000.3(VCL):c.1457C>T (p.Pro486Leu)
|
rs1251509217
|
|
NM_014000.3(VCL):c.1620T>A (p.Asp540Glu)
|
rs533622785
|
|
NM_014000.3(VCL):c.169-11del
|
rs753900484
|
|
NM_014000.3(VCL):c.1743+6A>G
|
rs370709860
|
|
NM_014000.3(VCL):c.1744-1G>T
|
rs1057524654
|
|
NM_014000.3(VCL):c.1819A>C (p.Lys607Gln)
|
rs794729192
|
|
NM_014000.3(VCL):c.1879G>A (p.Asp627Asn)
|
rs1251173111
|
|
NM_014000.3(VCL):c.2022+5G>T
|
rs1050797785
|
|
NM_014000.3(VCL):c.20G>T (p.Arg7Leu)
|
rs764871020
|
|
NM_014000.3(VCL):c.2407G>A (p.Ala803Thr)
|
rs754294941
|
|
NM_014000.3(VCL):c.2579del (p.Pro860fs)
|
rs1840179829
|
|
NM_014000.3(VCL):c.2775_2780del (p.Gly926_Val927del)
|
rs757018106
|
|
NM_014000.3(VCL):c.2823_2824delinsGT (p.Pro942Ser)
|
rs1060502196
|
|
NM_014000.3(VCL):c.2866A>G (p.Met956Val)
|
rs761830073
|
|
NM_014000.3(VCL):c.482C>G (p.Thr161Arg)
|
rs376226543
|
|
NM_014000.3(VCL):c.565G>T (p.Val189Leu)
|
rs151045204
|
|
NM_014000.3(VCL):c.625A>G (p.Met209Val)
|
rs144683137
|
|
NM_014000.3(VCL):c.686dup (p.Asn229fs)
|
rs776583302
|
|
NM_014000.3(VCL):c.768T>A (p.Asp256Glu)
|
rs56413529
|
|
NM_014908.4(DOLK):c.1332_1333dup (p.Leu445fs)
|
rs1287763056
|
|
NM_014908.4(DOLK):c.1424G>T (p.Gly475Val)
|
rs1588261710
|
|
NM_014908.4(DOLK):c.325C>G (p.Arg109Gly)
|
rs755188614
|
|
NM_014908.4(DOLK):c.702G>C (p.Met234Ile)
|
rs746656818
|
|
NM_016203.4(PRKAG2):c.1106+19del
|
rs374874465
|
|
NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu)
|
rs375174733
|
|
NM_016203.4(PRKAG2):c.473G>A (p.Gly158Asp)
|
rs1832796232
|
|
NM_016203.4(PRKAG2):c.556C>T (p.Arg186Trp)
|
rs200392688
|
|
NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys)
|
rs397517277
|
|
NM_016203.4(PRKAG2):c.727C>G (p.Leu243Val)
|
rs543247293
|
|
NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile)
|
rs397517282
|
|
NM_016599.5(MYOZ2):c.*1262del
|
rs533440962
|
|
NM_016599.5(MYOZ2):c.*1262dup
|
rs533440962
|
|
NM_016599.5(MYOZ2):c.-15+11dup
|
rs58371596
|
|
NM_016599.5(MYOZ2):c.142T>C (p.Ser48Pro)
|
rs199476398
|
|
NM_016599.5(MYOZ2):c.1A>T (p.Met1Leu)
|
rs368392953
|
|
NM_016599.5(MYOZ2):c.29A>G (p.Gln10Arg)
|
rs76757102
|
|
NM_016599.5(MYOZ2):c.302C>A (p.Ser101Ter)
|
rs138061447
|
|
NM_016599.5(MYOZ2):c.327del (p.Asn110fs)
|
rs2149223404
|
|
NM_016599.5(MYOZ2):c.447A>T (p.Gln149His)
|
rs200077093
|
|
NM_020297.4(ABCC9):c.1657G>T (p.Ala553Ser)
|
rs2137747839
|
|
NM_020297.4(ABCC9):c.1975A>G (p.Thr659Ala)
|
rs878854783
|
|
NM_020297.4(ABCC9):c.2080C>T (p.Arg694Ter)
|
rs1194330942
|
|
NM_020297.4(ABCC9):c.2818G>T (p.Ala940Ser)
|
rs1373377020
|
|
NM_020297.4(ABCC9):c.295T>A (p.Ser99Thr)
|
rs1270249014
|
|
NM_020297.4(ABCC9):c.4014del (p.Gly1339fs)
|
rs2137173765
|
|
NM_020297.4(ABCC9):c.4196dup (p.Ser1400fs)
|
rs730880370
|
|
NM_020297.4(ABCC9):c.4450-6_4450-5del
|
rs4148680
|
|
NM_020297.4(ABCC9):c.4512+824G>C
|
rs1941745235
|
|
NM_020297.4(ABCC9):c.723G>T (p.Lys241Asn)
|
rs1948578084
|
|
NM_020297.4(ABCC9):c.7C>G (p.Leu3Val)
|
rs976596252
|
|
NM_020433.5(JPH2):c.1645C>T (p.Gln549Ter)
|
rs1260496472
|
|
NM_020433.5(JPH2):c.1937C>G (p.Thr646Ser)
|
rs1600828763
|
|
NM_020433.5(JPH2):c.1951AAG[2] (p.Lys653del)
|
rs111666278
|
|
NM_020433.5(JPH2):c.1964G>A (p.Arg655Gln)
|
rs1569180563
|
|
NM_020433.5(JPH2):c.1975G>A (p.Ala659Thr)
|
rs1600828677
|
|
NM_020433.5(JPH2):c.2006_2010+1dup
|
rs2072182869
|
|
NM_020433.5(JPH2):c.361G>A (p.Glu121Lys)
|
rs1569226231
|
|
NM_020433.5(JPH2):c.590G>T (p.Arg197Leu)
|
rs1258920337
|
|
NM_020433.5(JPH2):c.869C>T (p.Thr290Ile)
|
rs757257639
|
|
NM_020433.5(JPH2):c.949G>A (p.Glu317Lys)
|
rs1054295023
|
|
NM_020774.4(MIB1):c.2635C>T (p.Gln879Ter)
|
rs1555696617
|
|
NM_021167.5(GATAD1):c.157G>C (p.Gly53Arg)
|
rs988478105
|
|
NM_021167.5(GATAD1):c.163A>T (p.Ser55Cys)
|
rs932471141
|
|
NM_021167.5(GATAD1):c.411C>G (p.Ile137Met)
|
rs1157446233
|
|
NM_024334.3(TMEM43):c.1172_1184del (p.Arg391fs)
|
rs2124997454
|
|
NM_024334.3(TMEM43):c.1A>G (p.Met1Val)
|
rs757083718
|
|
NM_024334.3(TMEM43):c.200G>T (p.Gly67Val)
|
rs766792876
|
|
NM_024334.3(TMEM43):c.257G>A (p.Gly86Glu)
|
rs771454768
|
|
NM_024334.3(TMEM43):c.265G>A (p.Val89Met)
|
rs147319971
|
|
NM_024334.3(TMEM43):c.287G>A (p.Arg96Gln)
|
rs748343919
|
|
NM_024334.3(TMEM43):c.31C>G (p.Arg11Gly)
|
rs201085402
|
|
NM_024334.3(TMEM43):c.349A>T (p.Arg117Trp)
|
rs1695096953
|
|
NM_024334.3(TMEM43):c.418AAG[1] (p.Lys141del)
|
rs746639451
|
|
NM_024334.3(TMEM43):c.424G>C (p.Glu142Gln)
|
rs145619906
|
|
NM_024334.3(TMEM43):c.458C>T (p.Ser153Leu)
|
rs1369869806
|
|
NM_024334.3(TMEM43):c.749dup (p.Asp251fs)
|
rs1695151947
|
|
NM_024334.3(TMEM43):c.760_780+2dup
|
rs1559361931
|
|
NM_024334.3(TMEM43):c.889T>A (p.Phe297Ile)
|
rs990243563
|
|
NM_024422.6(DSC2):c.*422C>T
|
rs769685892
|
|
NM_024422.6(DSC2):c.1307G>T (p.Gly436Val)
|
rs763981974
|
|
NM_024422.6(DSC2):c.1350A>G (p.Arg450=)
|
rs144242114
|
|
NM_024422.6(DSC2):c.1694T>G (p.Ile565Ser)
|
rs1986963426
|
|
NM_024422.6(DSC2):c.1745T>C (p.Val582Ala)
|
rs1986959880
|
|
NM_024422.6(DSC2):c.186T>A (p.Asn62Lys)
|
rs748644229
|
|
NM_024422.6(DSC2):c.2014A>G (p.Ile672Val)
|
rs375842356
|
|
NM_024422.6(DSC2):c.2250+2T>C
|
rs1064793731
|
|
NM_024422.6(DSC2):c.2363A>C (p.Lys788Thr)
|
rs1430547540
|
|
NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu)
|
rs61731921
|
|
NM_024422.6(DSC2):c.2582_2585dup (p.Gly863fs)
|
rs780970079
|
|
NM_024422.6(DSC2):c.2583_2587dup (p.Gly863fs)
|
rs1986691422
|
|
NM_024422.6(DSC2):c.2683G>A (p.Ala895Thr)
|
rs1060502988
|
|
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)
|
rs200056085
|
|
NM_024422.6(DSC2):c.685del (p.Pro228_Leu229insTer)
|
rs1209546374
|
|
NM_024422.6(DSC2):c.734A>G (p.Glu245Gly)
|
rs373201722
|
|
NM_024422.6(DSC2):c.744_746delinsCAA (p.Thr249Asn)
|
rs1987447561
|
|
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter)
|
rs397517406
|
|
NM_024422.6(DSC2):c.880del (p.Leu294fs)
|
rs1451144520
|
|
NM_024422.6(DSC2):c.959A>C (p.Gln320Pro)
|
rs1481724064
|
|
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His)
|
rs121434499
|
|
NM_030662.4(MAP2K2):c.969C>G (p.Asp323Glu)
|
rs768656734
|
|
NM_032578.4(MYPN):c.101G>A (p.Arg34Gln)
|
rs730880168
|
|
NM_032578.4(MYPN):c.1253G>A (p.Ser418Asn)
|
rs1008949819
|
|
NM_032578.4(MYPN):c.1676A>C (p.Gln559Pro)
|
rs1187897430
|
|
NM_032578.4(MYPN):c.1805T>C (p.Leu602Pro)
|
rs779148735
|
|
NM_032578.4(MYPN):c.217G>C (p.Asp73His)
|
rs2042244267
|
|
NM_032578.4(MYPN):c.2228C>A (p.Pro743Gln)
|
rs138583865
|
|
NM_032578.4(MYPN):c.2435T>C (p.Val812Ala)
|
rs1131691857
|
|
NM_032578.4(MYPN):c.2503C>A (p.Pro835Thr)
|
rs1196958004
|
|
NM_032578.4(MYPN):c.2756G>A (p.Arg919His)
|
rs193022869
|
|
NM_032578.4(MYPN):c.2756G>T (p.Arg919Leu)
|
rs193022869
|
|
NM_032578.4(MYPN):c.295C>T (p.Arg99Ter)
|
rs756823228
|
|
NM_032578.4(MYPN):c.3169C>T (p.Arg1057Ter)
|
rs1057519572
|
|
NM_032578.4(MYPN):c.3170G>A (p.Arg1057Gln)
|
rs150414382
|
|
NM_032578.4(MYPN):c.3262C>T (p.Arg1088Cys)
|
rs372824930
|
|
NM_032578.4(MYPN):c.3271C>T (p.Arg1091Trp)
|
rs754707304
|
|
NM_032578.4(MYPN):c.3301C>A (p.Pro1101Thr)
|
rs1284303981
|
|
NM_032578.4(MYPN):c.3335C>A (p.Pro1112His)
|
rs71534278
|
|
NM_032578.4(MYPN):c.3442G>T (p.Ala1148Ser)
|
rs200390297
|
|
NM_032578.4(MYPN):c.3646A>G (p.Arg1216Gly)
|
rs1589614570
|
|
NM_032578.4(MYPN):c.3661A>G (p.Met1221Val)
|
rs1564702434
|
|
NM_032578.4(MYPN):c.373C>G (p.Pro125Ala)
|
rs2133994610
|
|
NM_032578.4(MYPN):c.3793G>A (p.Ala1265Thr)
|
rs199476416
|
|
NM_032578.4(MYPN):c.3825G>A (p.Met1275Ile)
|
rs777519016
|
|
NM_032578.4(MYPN):c.3899C>T (p.Ser1300Phe)
|
rs1564704607
|
|
NM_032578.4(MYPN):c.54G>C (p.Glu18Asp)
|
rs876657919
|
|
NM_032578.4(MYPN):c.601G>A (p.Asp201Asn)
|
rs1454105180
|
|
NM_032578.4(MYPN):c.729T>G (p.Ser243Arg)
|
rs794727304
|
|
NM_032578.4(MYPN):c.805C>A (p.Pro269Thr)
|
rs560119421
|
|
NM_032578.4(MYPN):c.826C>G (p.Arg276Gly)
|
rs745678026
|
|
NM_033337.3(CAV3):c.*658T>A
|
rs556491932
|
|
NM_033337.3(CAV3):c.114+2T>C
|
rs116840787
|
|
NM_033337.3(CAV3):c.182G>A (p.Ser61Asn)
|
rs1060502315
|
|
NM_033337.3(CAV3):c.254C>T (p.Ala85Val)
|
rs1553614440
|
|
NM_033337.3(CAV3):c.35A>G (p.Gln12Arg)
|
rs1707652057
|
|
NM_033337.3(CAV3):c.400G>A (p.Ala134Thr)
|
rs773309037
|
|
NM_033360.4(KRAS):c.*101_*106del
|
rs1339924833
|
|
NM_133379.5(TTN):c.10559C>A (p.Pro3520Gln)
|
rs189445085
|
|
NM_133379.5(TTN):c.11942A>G (p.Asp3981Gly)
|
rs201757429
|
|
NM_133379.5(TTN):c.12276C>T (p.Pro4092=)
|
rs902600429
|
|
NM_133379.5(TTN):c.13705G>T (p.Glu4569Ter)
|
rs372994805
|
|
NM_133379.5(TTN):c.13748_13751del (p.Ile4583fs)
|
rs1460696675
|
|
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6])
|
rs397517815
|
|
NM_133379.5(TTN):c.15304A>G (p.Thr5102Ala)
|
rs371168275
|
|
NM_133379.5(TTN):c.15676G>C (p.Asp5226His)
|
rs147492121
|
|
NM_133379.5(TTN):c.16531G>T (p.Glu5511Ter)
|
rs794729307
|
|
NM_144573.4(NEXN):c.*418del
|
rs368295679
|
|
NM_144573.4(NEXN):c.1055T>C (p.Val352Ala)
|
rs1040085867
|
|
NM_144573.4(NEXN):c.1111C>A (p.Pro371Thr)
|
rs1223883098
|
|
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu)
|
rs200067011
|
|
NM_144573.4(NEXN):c.137del (p.Asn46fs)
|
rs2102092061
|
|
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del)
|
rs397517846
|
|
NM_144573.4(NEXN):c.1450C>T (p.Arg484Ter)
|
rs767792289
|
|
NM_144573.4(NEXN):c.1481A>T (p.Asp494Val)
|
rs750183004
|
|
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)
|
rs764505909
|
|
NM_144573.4(NEXN):c.1640T>A (p.Ile547Asn)
|
rs753636624
|
|
NM_144573.4(NEXN):c.1661A>G (p.Lys554Arg)
|
rs1651445427
|
|
NM_144573.4(NEXN):c.1671GGA[5] (p.Glu562dup)
|
rs397517848
|
|
NM_144573.4(NEXN):c.1678G>A (p.Glu560Lys)
|
rs377257742
|
|
NM_144573.4(NEXN):c.784C>T (p.Arg262Ter)
|
rs1002648603
|
|
NM_144573.4(NEXN):c.864G>T (p.Met288Ile)
|
rs371666396
|
|
NM_144573.4(NEXN):c.86G>T (p.Gly29Val)
|
rs876657931
|
|
NM_144573.4(NEXN):c.962del (p.Arg321fs)
|
rs915318065
|
|
NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del)
|
rs727505124
|
|
NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp)
|
rs1237093879
|
|
NM_170707.4(LMNA):c.1232G>A (p.Gly411Asp)
|
rs267607647
|
|
NM_170707.4(LMNA):c.1234G>T (p.Gly412Trp)
|
rs966050612
|
|
NM_170707.4(LMNA):c.1237G>T (p.Gly413Cys)
|
rs766811975
|
|
NM_170707.4(LMNA):c.1286G>A (p.Ser429Asn)
|
rs1385994420
|
|
NM_170707.4(LMNA):c.1287C>G (p.Ser429Arg)
|
rs1651629254
|
|
NM_170707.4(LMNA):c.1381-6C>G
|
rs371635492
|
|
NM_170707.4(LMNA):c.1453C>G (p.Pro485Ala)
|
rs886042993
|
|
NM_170707.4(LMNA):c.1485G>A (p.Val495=)
|
rs1651703234
|
|
NM_170707.4(LMNA):c.1608+1G>A
|
rs267607592
|
|
NM_170707.4(LMNA):c.161C>T (p.Thr54Met)
|
rs879253992
|
|
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs)
|
rs2102898301
|
|
NM_170707.4(LMNA):c.1655A>C (p.Asp552Ala)
|
rs1651785654
|
|
NM_170707.4(LMNA):c.1659C>T (p.Asp553=)
|
rs748768783
|
|
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu)
|
rs57830985
|
|
NM_170707.4(LMNA):c.1873_1874delinsCC (p.Ser625Pro)
|
rs1553266553
|
|
NM_170707.4(LMNA):c.1968+18dup
|
rs554157057
|
|
NM_170707.4(LMNA):c.1971C>A (p.Ser657Arg)
|
rs1023544978
|
|
NM_170707.4(LMNA):c.244G>C (p.Glu82Gln)
|
rs59270054
|
|
NM_170707.4(LMNA):c.268A>G (p.Lys90Glu)
|
rs1445068583
|
|
NM_170707.4(LMNA):c.272C>T (p.Thr91Ile)
|
rs1306829976
|
|
NM_170707.4(LMNA):c.286G>T (p.Ala96Ser)
|
rs1553262000
|
|
NM_170707.4(LMNA):c.326T>A (p.Val109Glu)
|
rs1649740041
|
|
NM_170707.4(LMNA):c.356G>T (p.Arg119Leu)
|
rs397517902
|
|
NM_170707.4(LMNA):c.47C>A (p.Ala16Asp)
|
rs770799870
|
|
NM_170707.4(LMNA):c.483G>A (p.Glu161=)
|
rs1553264647
|
|
NM_170707.4(LMNA):c.511A>G (p.Lys171Glu)
|
rs1650991296
|
|
NM_170707.4(LMNA):c.610C>G (p.Leu204Val)
|
rs1553265177
|
|
NM_170707.4(LMNA):c.689A>G (p.Asp230Gly)
|
rs773349450
|
|
NM_170707.4(LMNA):c.760G>A (p.Asp254Asn)
|
rs1553265346
|
|
NM_170707.4(LMNA):c.762C>A (p.Asp254Glu)
|
rs1558129629
|
|
NM_170707.4(LMNA):c.787C>A (p.Leu263Met)
|
rs750246389
|
|
NM_170707.4(LMNA):c.822del (p.Arg275fs)
|
rs2102883169
|
|
NM_170707.4(LMNA):c.853G>T (p.Val285Leu)
|
rs746056534
|
|
NM_170707.4(LMNA):c.878A>T (p.Gln293Leu)
|
rs1651454980
|
|
NM_170707.4(LMNA):c.893G>T (p.Arg298Leu)
|
rs762653476
|
|
NM_170707.4(LMNA):c.927C>A (p.Leu309=)
|
rs752558753
|
|
NM_170707.4(LMNA):c.940G>A (p.Ala314Thr)
|
rs769498020
|
|
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter)
|
rs267607554
|
|
NM_182914.3(SYNE2):c.16479+15T>G
|
rs80199180
|
|
NM_182914.3(SYNE2):c.20632_20634delinsGAA (p.Ser6878Glu)
|
rs1555564487
|
|
NM_182914.3(SYNE2):c.2647-4_2647-3dup
|
rs397726340
|
|
NM_182961.4(SYNE1):c.11416A>G (p.Lys3806Glu)
|
rs1207624769
|
|
NM_182961.4(SYNE1):c.26372C>T (p.Thr8791Met)
|
rs567376316
|
|
NM_182961.4(SYNE1):c.3837+9G>A
|
rs756594812
|
|
NM_198056.2(SCN5A):c.86_87invCA (p.Ala29Val)
|
|
|
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs)
|
rs772226399
|
|
NM_206937.2(LIG4):c.1704_1705delinsCG (p.Met569Val)
|
rs1878367870
|
|
m.3271T>C
|
rs199474658
|
|