NM_014000.3(VCL):c.*1849_*1850insC
|
rs200756813
|
0.16729
|
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=)
|
rs9858585
|
0.00488
|
NM_001134363.3(RBM20):c.*627_*628del
|
rs34371891
|
0.00439
|
NM_007078.3(LDB3):c.690-4A>G
|
rs45529531
|
0.00427
|
NM_003476.4(CSRP3):c.-181delC
|
rs886048102
|
0.00372
|
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=)
|
rs41313693
|
0.00351
|
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=)
|
rs41313703
|
0.00349
|
NM_001943.5(DSG2):c.*131C>T
|
rs146873880
|
0.00328
|
NM_001368067.1(LDB3):c.546T>C (p.Ser182=)
|
rs71473272
|
0.00316
|
NM_007078.3(LDB3):c.-23-32C>A
|
rs34972863
|
0.00282
|
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser)
|
rs72648247
|
0.00184
|
NM_001943.5(DSG2):c.*989C>T
|
rs140755940
|
0.00172
|
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=)
|
rs371802557
|
0.00134
|
NM_007078.3(LDB3):c.897-6834C>T
|
rs185972751
|
0.00101
|
NM_014000.3(VCL):c.*1282C>T
|
rs529687198
|
0.00054
|
NM_005159.4(ACTC1):c.*1781C>T
|
rs560065427
|
0.00041
|
NM_005159.4(ACTC1):c.*983C>T
|
rs549986676
|
0.00035
|
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=)
|
rs150291001
|
0.00034
|
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=)
|
rs200852418
|
0.00032
|
NM_001943.5(DSG2):c.*1036C>G
|
rs191443311
|
0.00032
|
NM_000335.5(SCN5A):c.*1673C>T
|
rs886058443
|
0.00024
|
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn)
|
rs371140684
|
0.00021
|
NM_000335.5(SCN5A):c.*1969C>T
|
rs190416544
|
0.00020
|
NM_000335.5(SCN5A):c.3228+6C>G
|
rs368048551
|
0.00019
|
NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile)
|
rs373519667
|
0.00017
|
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=)
|
rs45523233
|
0.00016
|
NM_001943.5(DSG2):c.*2034C>T
|
rs886053738
|
0.00016
|
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser)
|
rs186234393
|
0.00015
|
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)
|
rs45520032
|
0.00015
|
NM_000021.3(PSEN1):c.-226C>A
|
rs200531676
|
0.00010
|
NM_001927.4(DES):c.*588G>A
|
rs746886224
|
0.00010
|
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His)
|
rs146848219
|
0.00009
|
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu)
|
rs377412567
|
0.00009
|
NM_001032283.3(TMPO):c.-126A>T
|
rs886049908
|
0.00008
|
NM_002471.4(MYH6):c.3604G>A (p.Val1202Met)
|
rs368451573
|
0.00008
|
NM_001103.4(ACTN2):c.*1274_*1275del
|
rs771809993
|
0.00007
|
NM_001276345.2(TNNT2):c.52+7G>A
|
rs374443596
|
0.00007
|
NM_000256.3(MYBPC3):c.1553T>C (p.Met518Thr)
|
rs886048378
|
0.00006
|
NM_000257.4(MYH7):c.2028T>C (p.Asn676=)
|
rs145564868
|
0.00006
|
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His)
|
rs369707906
|
0.00006
|
NM_001276345.2(TNNT2):c.601-8C>T
|
rs397516475
|
0.00006
|
NM_001943.5(DSG2):c.15G>C (p.Pro5=)
|
rs772663614
|
0.00006
|
NM_007078.3(LDB3):c.690-4619G>T
|
rs761090088
|
0.00006
|
NM_001330.5(CTF1):c.527G>A (p.Arg176His)
|
rs886051925
|
0.00005
|
NM_007078.3(LDB3):c.897-6665C>T
|
rs549156118
|
0.00005
|
NM_000021.3(PSEN1):c.-214T>G
|
rs886050662
|
0.00004
|
NM_000021.4(PSEN1):c.*1415C>A
|
rs574671310
|
0.00004
|
NM_000256.3(MYBPC3):c.1056C>G (p.Leu352=)
|
rs375007425
|
0.00004
|
NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val)
|
rs768393069
|
0.00004
|
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=)
|
rs886050418
|
0.00004
|
NM_000335.5(SCN5A):c.2259C>T (p.Asn753=)
|
rs878911306
|
0.00004
|
NM_001276345.2(TNNT2):c.720-5T>G
|
rs730881092
|
0.00004
|
NM_005159.4(ACTC1):c.*1318T>G
|
rs759530643
|
0.00004
|
NM_007078.3(LDB3):c.689+3861C>T
|
rs754704023
|
0.00004
|
NM_007078.3(LDB3):c.690-4617G>A
|
rs754174632
|
0.00004
|
NM_014000.3(VCL):c.45G>A (p.Pro15=)
|
rs775062250
|
0.00004
|
NM_144573.4(NEXN):c.1892T>C (p.Ile631Thr)
|
rs775292649
|
0.00004
|
NM_170707.4(LMNA):c.936+12C>T
|
rs199881992
|
0.00004
|
NM_000256.3(MYBPC3):c.3191-7C>T
|
rs373012629
|
0.00003
|
NM_000256.3(MYBPC3):c.927-10C>T
|
rs201078659
|
0.00003
|
NM_000257.4(MYH7):c.1983C>T (p.Asn661=)
|
rs146474860
|
0.00003
|
NM_000257.4(MYH7):c.540C>A (p.Ser180=)
|
rs369490861
|
0.00003
|
NM_000335.5(SCN5A):c.*945C>A
|
rs886058450
|
0.00003
|
NM_000335.5(SCN5A):c.21T>A (p.Pro7=)
|
rs587781157
|
0.00003
|
NM_000337.6(SGCD):c.*1171C>A
|
rs528794571
|
0.00003
|
NM_001018005.2(TPM1):c.-48C>T
|
rs747523720
|
0.00003
|
NM_001267550.2(TTN):c.43316G>A (p.Arg14439His)
|
rs764117439
|
0.00003
|
NM_001276345.2(TNNT2):c.691A>G (p.Ile231Val)
|
rs886045828
|
0.00003
|
NM_001943.5(DSG2):c.2162A>G (p.His721Arg)
|
rs756912703
|
0.00003
|
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala)
|
rs727502985
|
0.00003
|
NM_007078.3(LDB3):c.897-6909G>A
|
rs532856980
|
0.00003
|
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=)
|
rs397515929
|
0.00002
|
NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp)
|
rs779973529
|
0.00002
|
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=)
|
rs150241539
|
0.00002
|
NM_000257.4(MYH7):c.733-3C>T
|
rs765068619
|
0.00002
|
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=)
|
rs561922849
|
0.00002
|
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp)
|
rs375627540
|
0.00002
|
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly)
|
rs573415766
|
0.00002
|
NM_001368067.1(LDB3):c.456G>A (p.Ala152=)
|
rs371708921
|
0.00002
|
NM_002471.4(MYH6):c.1822G>A (p.Ala608Thr)
|
rs886050409
|
0.00002
|
NM_002471.4(MYH6):c.212T>C (p.Val71Ala)
|
rs769686237
|
0.00002
|
NM_002471.4(MYH6):c.934G>A (p.Ala312Thr)
|
rs748143404
|
0.00002
|
NM_005159.5(ACTC1):c.-36C>G
|
rs886051091
|
0.00002
|
NM_007078.3(LDB3):c.897-6831C>T
|
rs886047355
|
0.00002
|
NM_170707.4(LMNA):c.-109G>T
|
rs886045360
|
0.00002
|
NM_000256.3(MYBPC3):c.332C>T (p.Ala111Val)
|
rs730880530
|
0.00001
|
NM_000257.4(MYH7):c.1749C>T (p.Ala583=)
|
rs758665829
|
0.00001
|
NM_000257.4(MYH7):c.2692C>T (p.Leu898=)
|
rs727504407
|
0.00001
|
NM_000257.4(MYH7):c.2922+6G>C
|
rs781192476
|
0.00001
|
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser)
|
rs745414245
|
0.00001
|
NM_000257.4(MYH7):c.5606A>G (p.Asp1869Gly)
|
rs730880824
|
0.00001
|
NM_000257.4(MYH7):c.5726G>A (p.Arg1909Gln)
|
rs397516253
|
0.00001
|
NM_000335.5(SCN5A):c.*1731G>C
|
rs569249327
|
0.00001
|
NM_000335.5(SCN5A):c.2988C>T (p.Ala996=)
|
rs781529391
|
0.00001
|
NM_000335.5(SCN5A):c.687T>C (p.Thr229=)
|
rs770390440
|
0.00001
|
NM_000337.6(SGCD):c.475G>A (p.Val159Ile)
|
rs370327314
|
0.00001
|
NM_001042475.3(CEP85L):c.1020+17181A>T
|
rs779232815
|
0.00001
|
NM_001042475.3(CEP85L):c.1020+6250A>T
|
rs886060999
|
0.00001
|
NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile)
|
rs535319438
|
0.00001
|
NM_001267550.2(TTN):c.40408+7_40408+10dup
|
rs397517560
|
0.00001
|
NM_001267550.2(TTN):c.55432+5G>C
|
rs754717390
|
0.00001
|
NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val)
|
rs886055258
|
0.00001
|
NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser)
|
rs777101912
|
0.00001
|
NM_001267550.2(TTN):c.77561C>T (p.Thr25854Ile)
|
rs886055245
|
0.00001
|
NM_001276345.2(TNNT2):c.720-9C>A
|
rs763204242
|
0.00001
|
NM_001943.5(DSG2):c.*599_*600del
|
rs1491095224
|
0.00001
|
NM_001943.5(DSG2):c.2335-9T>C
|
rs757355636
|
0.00001
|
NM_001943.5(DSG2):c.2802A>G (p.Ile934Met)
|
rs368584610
|
0.00001
|
NM_004281.4(BAG3):c.1571T>C (p.Ile524Thr)
|
rs752390475
|
0.00001
|
NM_004281.4(BAG3):c.564G>T (p.Leu188=)
|
rs886046754
|
0.00001
|
NM_005159.4(ACTC1):c.*1090A>G
|
rs886051070
|
0.00001
|
NM_005159.4(ACTC1):c.-109C>A
|
rs886051097
|
0.00001
|
NM_014391.3(ANKRD1):c.458A>T (p.Lys153Ile)
|
rs727502889
|
0.00001
|
NM_020297.4(ABCC9):c.4316-14T>G
|
rs886049168
|
0.00001
|
NM_000021.3(PSEN1):c.-241G>T
|
rs886050661
|
|
NM_000021.4(PSEN1):c.*1716TATGA[4]
|
rs886050670
|
|
NM_000021.4(PSEN1):c.*1867ACAG[1]
|
rs563773430
|
|
NM_000021.4(PSEN1):c.*3033CT[2]
|
rs886050680
|
|
NM_000256.3(MYBPC3):c.*163C>A
|
rs886048366
|
|
NM_000256.3(MYBPC3):c.*26+3A>G
|
rs886048369
|
|
NM_000256.3(MYBPC3):c.*327C>A
|
rs886048364
|
|
NM_000256.3(MYBPC3):c.*95G>T
|
rs886048368
|
|
NM_000256.3(MYBPC3):c.1458-9C>T
|
rs886048379
|
|
NM_000256.3(MYBPC3):c.2603-4C>A
|
rs886048377
|
|
NM_000256.3(MYBPC3):c.2603G>T (p.Gly868Val)
|
rs886048376
|
|
NM_000256.3(MYBPC3):c.2622C>A (p.Thr874=)
|
rs886048375
|
|
NM_000256.3(MYBPC3):c.2639A>C (p.Asp880Ala)
|
rs886048374
|
|
NM_000256.3(MYBPC3):c.2892G>T (p.Val964=)
|
rs886048372
|
|
NM_000256.3(MYBPC3):c.2905+7G>C
|
rs886048371
|
|
NM_000256.3(MYBPC3):c.3627+6G>T
|
rs886048370
|
|
NM_000256.3(MYBPC3):c.927-7G>T
|
rs886048381
|
|
NM_000257.4(MYH7):c.-39C>A
|
rs886050424
|
|
NM_000257.4(MYH7):c.-47G>T
|
rs886050425
|
|
NM_000257.4(MYH7):c.1671G>T (p.Leu557=)
|
rs149386750
|
|
NM_000257.4(MYH7):c.2968G>A (p.Ala990Thr)
|
rs753137666
|
|
NM_000257.4(MYH7):c.3148C>A (p.Arg1050=)
|
rs730880767
|
|
NM_000257.4(MYH7):c.4169+6T>G
|
rs886050417
|
|
NM_000257.4(MYH7):c.449C>G (p.Ala150Gly)
|
rs879196018
|
|
NM_000257.4(MYH7):c.5394C>T (p.Asp1798=)
|
rs777053791
|
|
NM_000257.4(MYH7):c.5482G>A (p.Ala1828Thr)
|
rs886050415
|
|
NM_000257.4(MYH7):c.658A>C (p.Ile220Leu)
|
rs779190577
|
|
NM_000257.4(MYH7):c.895+12C>A
|
rs186276057
|
|
NM_000335.5(SCN5A):c.*1443C>A
|
rs886058445
|
|
NM_000335.5(SCN5A):c.*1602G>T
|
rs886058444
|
|
NM_000335.5(SCN5A):c.*1691G>T
|
rs886058442
|
|
NM_000335.5(SCN5A):c.*1701G>T
|
rs886058441
|
|
NM_000335.5(SCN5A):c.*1705C>T
|
rs886058440
|
|
NM_000335.5(SCN5A):c.*1744C>G
|
rs886058439
|
|
NM_000335.5(SCN5A):c.*1836A>T
|
rs886058438
|
|
NM_000335.5(SCN5A):c.*1943C>A
|
rs569552176
|
|
NM_000335.5(SCN5A):c.*2149G>A
|
rs114517792
|
|
NM_000335.5(SCN5A):c.*296G>A
|
rs886058456
|
|
NM_000335.5(SCN5A):c.*516G>T
|
rs886058454
|
|
NM_000335.5(SCN5A):c.*634C>A
|
rs886058453
|
|
NM_000335.5(SCN5A):c.*6G>T
|
rs776980213
|
|
NM_000335.5(SCN5A):c.*725C>A
|
rs886058451
|
|
NM_000335.5(SCN5A):c.*73C>A
|
rs886058458
|
|
NM_000335.5(SCN5A):c.*980C>A
|
rs886058449
|
|
NM_000335.5(SCN5A):c.1870C>A (p.Leu624Ile)
|
rs886058463
|
|
NM_000335.5(SCN5A):c.2815C>T (p.Leu939Phe)
|
rs886058462
|
|
NM_000335.5(SCN5A):c.4264G>A (p.Asp1422Asn)
|
rs746291609
|
|
NM_000335.5(SCN5A):c.5942G>T (p.Arg1981Ile)
|
rs774432823
|
|
NM_000335.5(SCN5A):c.6030C>A (p.Asp2010Glu)
|
rs886058459
|
|
NM_000337.6(SGCD):c.*3918_*3921dup
|
rs886060303
|
|
NM_000337.6(SGCD):c.*4340_*4341dup
|
rs556887176
|
|
NM_000337.6(SGCD):c.*4341dup
|
rs556887176
|
|
NM_000337.6(SGCD):c.*6045A>G
|
rs886060312
|
|
NM_000337.6(SGCD):c.*6497dup
|
rs886060314
|
|
NM_000337.6(SGCD):c.*6644del
|
rs886060315
|
|
NM_000337.6(SGCD):c.*6660del
|
rs57240389
|
|
NM_000337.6(SGCD):c.*6660dup
|
rs57240389
|
|
NM_000337.6(SGCD):c.*6661del
|
rs886060317
|
|
NM_000337.6(SGCD):c.*8113_*8114dup
|
rs397736317
|
|
NM_000337.6(SGCD):c.*8114dup
|
rs397736317
|
|
NM_001018005.2(TPM1):c.*97CT[2]
|
rs886051321
|
|
NM_001042475.3(CEP85L):c.1020+6013_1020+6015del
|
rs765386927
|
|
NM_001103.4(ACTN2):c.-98CGCCGCC[4]
|
rs552471202
|
|
NM_001103.4(ACTN2):c.1031A>C (p.Asn344Thr)
|
rs886046206
|
|
NM_001134363.3(RBM20):c.*1098dup
|
rs886046712
|
|
NM_001134363.3(RBM20):c.*2362_*2365del
|
rs745346028
|
|
NM_001134363.3(RBM20):c.*2442G>A
|
rs886046719
|
|
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup)
|
rs397516593
|
|
NM_001134363.3(RBM20):c.1880+4_1880+6dup
|
rs397516597
|
|
NM_001267550.2(TTN):c.100172-17dup
|
rs397517782
|
|
NM_001267550.2(TTN):c.100766-10del
|
rs749872538
|
|
NM_001267550.2(TTN):c.101038A>G (p.Lys33680Glu)
|
rs886055226
|
|
NM_001267550.2(TTN):c.103924_103926del (p.Pro34642del)
|
rs771366227
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[11]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[9]
|
rs71393436
|
|
NM_001267550.2(TTN):c.2758C>T (p.His920Tyr)
|
rs886055307
|
|
NM_001267550.2(TTN):c.30683-3del
|
rs368277751
|
|
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del)
|
rs397517549
|
|
NM_001267550.2(TTN):c.40408+8del
|
rs727504922
|
|
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del)
|
rs727504199
|
|
NM_001267550.2(TTN):c.44913+10dup
|
rs745700983
|
|
NM_001267550.2(TTN):c.46044A>C (p.Ser15348=)
|
rs886055273
|
|
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn)
|
rs397517583
|
|
NM_001267550.2(TTN):c.5953A>G (p.Ile1985Val)
|
rs886055303
|
|
NM_001267550.2(TTN):c.60050AAG[2] (p.Glu20019del)
|
rs886055257
|
|
NM_001267550.2(TTN):c.69095A>T (p.His23032Leu)
|
rs886055251
|
|
NM_001267550.2(TTN):c.83592C>G (p.Pro27864=)
|
rs760755965
|
|
NM_001267550.2(TTN):c.915-7dup
|
rs730880351
|
|
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu)
|
rs397517781
|
|
NM_001267550.2(TTN):c.99903A>G (p.Glu33301=)
|
rs886055227
|
|
NM_001276345.2(TNNT2):c.-22G>T
|
rs886045829
|
|
NM_001276345.2(TNNT2):c.270C>G (p.Pro90=)
|
rs140245123
|
|
NM_001330.5(CTF1):c.*909C>G
|
rs886051929
|
|
NM_001330.5(CTF1):c.*981dup
|
rs886051931
|
|
NM_001368067.1(LDB3):c.456G>T (p.Ala152=)
|
rs371708921
|
|
NM_001943.4(DSG2):c.-153dup
|
rs886053708
|
|
NM_001943.5(DSG2):c.*1012C>T
|
rs886053733
|
|
NM_001943.5(DSG2):c.*1450G>A
|
rs886053734
|
|
NM_001943.5(DSG2):c.*1473G>T
|
rs886053735
|
|
NM_001943.5(DSG2):c.*1786G>T
|
rs886053737
|
|
NM_001943.5(DSG2):c.*25del
|
rs886053717
|
|
NM_001943.5(DSG2):c.*351C>A
|
rs886053720
|
|
NM_001943.5(DSG2):c.*419G>T
|
rs552933757
|
|
NM_001943.5(DSG2):c.*874C>T
|
rs886053728
|
|
NM_001943.5(DSG2):c.*932_*933insA
|
rs886053730
|
|
NM_001943.5(DSG2):c.*944del
|
rs368604939
|
|
NM_001943.5(DSG2):c.-44C>A
|
rs886053710
|
|
NM_001943.5(DSG2):c.-4T>G
|
rs886053711
|
|
NM_001943.5(DSG2):c.1280+4AG[3]
|
rs876657791
|
|
NM_001943.5(DSG2):c.828+10A>C
|
rs886053712
|
|
NM_002471.4(MYH6):c.3979-8del
|
rs193922652
|
|
NM_002471.4(MYH6):c.3979-8dup
|
rs193922652
|
|
NM_002471.4(MYH6):c.675C>T (p.Asn225=)
|
rs886050413
|
|
NM_003476.4(CSRP3):c.-161delG
|
rs138573509
|
|
NM_003476.4(CSRP3):c.-162_-161AG[6]
|
rs886048098
|
|
NM_003476.4(CSRP3):c.-180delA
|
rs34865888
|
|
NM_003476.4(CSRP3):c.-182delT
|
rs886048103
|
|
NM_004100.5(EYA4):c.*1142del
|
rs886061091
|
|
NM_004100.5(EYA4):c.*2479del
|
rs886061095
|
|
NM_004100.5(EYA4):c.*737dup
|
rs749389761
|
|
NM_004281.4(BAG3):c.1298A>G (p.Gln433Arg)
|
rs886046755
|
|
NM_005159.4(ACTC1):c.*1062G>A
|
rs886051072
|
|
NM_005159.4(ACTC1):c.*1070A>C
|
rs886051071
|
|
NM_005159.4(ACTC1):c.*1115A>T
|
rs886051069
|
|
NM_005159.4(ACTC1):c.*1482G>T
|
rs886051066
|
|
NM_005159.4(ACTC1):c.*1502G>T
|
rs886051065
|
|
NM_005159.4(ACTC1):c.*1753G>T
|
rs886051064
|
|
NM_005159.4(ACTC1):c.*1797C>A
|
rs886051063
|
|
NM_005159.4(ACTC1):c.*2168G>T
|
rs886051061
|
|
NM_005159.4(ACTC1):c.*224G>C
|
rs551820554
|
|
NM_005159.4(ACTC1):c.*247G>A
|
rs886051088
|
|
NM_005159.4(ACTC1):c.*284G>A
|
rs886051087
|
|
NM_005159.4(ACTC1):c.*307T>A
|
rs886051086
|
|
NM_005159.4(ACTC1):c.*422T>A
|
rs886051084
|
|
NM_005159.4(ACTC1):c.*561C>A
|
rs886051083
|
|
NM_005159.4(ACTC1):c.*643C>A
|
rs886051081
|
|
NM_005159.4(ACTC1):c.*646C>A
|
rs886051080
|
|
NM_005159.4(ACTC1):c.*674C>A
|
rs886051079
|
|
NM_005159.4(ACTC1):c.*708G>T
|
rs886051077
|
|
NM_005159.4(ACTC1):c.*739G>T
|
rs886051076
|
|
NM_005159.4(ACTC1):c.*775C>A
|
rs886051075
|
|
NM_005159.4(ACTC1):c.*935G>T
|
rs766542832
|
|
NM_005159.4(ACTC1):c.-101G>T
|
rs886051095
|
|
NM_005159.4(ACTC1):c.-105C>A
|
rs886051096
|
|
NM_005159.4(ACTC1):c.-175C>A
|
rs886051098
|
|
NM_005159.4(ACTC1):c.-194C>A
|
rs886051099
|
|
NM_005159.5(ACTC1):c.-55C>A
|
rs886051093
|
|
NM_005159.5(ACTC1):c.-55CCG[3]
|
rs886051092
|
|
NM_005159.5(ACTC1):c.809-12_809-11insGT
|
rs774238821
|
|
NM_005159.5(ACTC1):c.809-58TG[17]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[21]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[22]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[24]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[25]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[26]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.978C>A (p.Thr326=)
|
rs886051089
|
|
NM_005572.3(LMNA):c.-225C>A
|
rs886045355
|
|
NM_007078.3(LDB3):c.690-4618C>A
|
rs764620834
|
|
NM_014000.3(VCL):c.*145del
|
rs756151016
|
|
NM_014000.3(VCL):c.*1665_*1669dup
|
rs886047227
|
|
NM_014000.3(VCL):c.*1705AAGA[3]
|
rs1554820063
|
|
NM_014000.3(VCL):c.*1841_*1842insA
|
rs886047231
|
|
NM_014000.3(VCL):c.*1841_*1842insAA
|
rs886047231
|
|
NM_014000.3(VCL):c.*1860_*1862dup
|
rs3037361
|
|
NM_014000.3(VCL):c.*1861_*1862dup
|
rs3037361
|
|
NM_014000.3(VCL):c.*353CT[1]
|
rs144115212
|
|
NM_014000.3(VCL):c.*709del
|
rs886047223
|
|
NM_014391.3(ANKRD1):c.*544_*548del
|
rs886047478
|
|
NM_014391.3(ANKRD1):c.*566_*574del
|
rs71025330
|
|
NM_014391.3(ANKRD1):c.*570_*574dup
|
rs71025330
|
|
NM_014391.3(ANKRD1):c.*571_*574dup
|
rs71025330
|
|
NM_014391.3(ANKRD1):c.346-12_346-11insTATA
|
rs766545285
|
|
NM_014391.3(ANKRD1):c.346-15_346-14del
|
rs794728971
|
|
NM_014391.3(ANKRD1):c.346-17_346-10del
|
rs397517250
|
|
NM_014391.3(ANKRD1):c.346-21ATTT[2]
|
rs397517250
|
|
NM_014391.3(ANKRD1):c.346-29_346-12del
|
rs72003210
|
|
NM_014391.3(ANKRD1):c.346-43AT[13]
|
rs60406118
|
|
NM_020297.4(ABCC9):c.1165-4del
|
rs886049172
|
|
NM_020297.4(ABCC9):c.1165-6dup
|
rs35857705
|
|
NM_020297.4(ABCC9):c.1165-7_1165-6del
|
rs35857705
|
|
NM_020297.4(ABCC9):c.2238-16del
|
rs886049170
|
|
NM_144573.3(NEXN):c.-212_-210GGC[7]
|
rs528439602
|
|
NM_144573.4(NEXN):c.*418del
|
rs368295679
|
|
NM_144573.4(NEXN):c.*4CT[1]
|
rs553696163
|
|
NM_170707.4(LMNA):c.-142C>A
|
rs886045358
|
|
NM_170707.4(LMNA):c.-183C>A
|
rs886045357
|
|
NM_170707.4(LMNA):c.-5C>A
|
rs886045362
|
|
NM_170707.4(LMNA):c.-62C>A
|
rs886045361
|
|
NM_170707.4(LMNA):c.1698+124C>T
|
rs1057516022
|
|
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser)
|
rs775159300
|
|