NM_001276345.2(TNNT2):c.863G>A (p.Arg288His)
|
rs397516484
|
0.00005
|
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met)
|
rs397517057
|
0.00004
|
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp)
|
rs483352832
|
0.00003
|
NM_005159.5(ACTC1):c.941G>A (p.Arg314His)
|
rs121912673
|
0.00003
|
NM_145054.5(CFAP52):c.536+1G>T
|
rs746987839
|
0.00003
|
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)
|
rs17221854
|
0.00002
|
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)
|
rs120074187
|
0.00002
|
NM_000218.3(KCNQ1):c.1252-1G>C
|
rs1848628661
|
0.00001
|
NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser)
|
rs780676796
|
0.00001
|
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly)
|
rs914460959
|
0.00001
|
NM_000218.3(KCNQ1):c.644T>G (p.Val215Gly)
|
rs368011737
|
0.00001
|
NM_000218.3(KCNQ1):c.944A>T (p.Tyr315Phe)
|
rs74462309
|
0.00001
|
NM_000238.4(KCNH2):c.1283C>T (p.Ser428Leu)
|
rs199472899
|
0.00001
|
NM_000238.4(KCNH2):c.1781G>A (p.Gly594Asp)
|
rs199472931
|
0.00001
|
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu)
|
rs199472979
|
0.00001
|
NM_000890.5(KCNJ5):c.473C>G (p.Thr158Arg)
|
rs145901904
|
0.00001
|
NM_001276345.2(TNNT2):c.265A>T (p.Ile89Phe)
|
rs746297911
|
0.00001
|
NM_001276345.2(TNNT2):c.431G>A (p.Arg144Gln)
|
rs754037135
|
0.00001
|
NM_001308093.3(GATA4):c.618A>G (p.Val206=)
|
rs1405855570
|
0.00001
|
NM_018055.5(NODAL):c.891+1G>A
|
rs878855044
|
0.00001
|
NM_033337.3(CAV3):c.169G>A (p.Val57Met)
|
rs116840795
|
0.00001
|
NC_000007.13:g.(?_150644396)_(150649961_?)dup
|
|
|
NC_000011.10:g.(?_2587560)_(2587702_?)del
|
|
|
NC_000011.9:g.(?_2549138)_(2610104_?)dup
|
|
|
NC_000011.9:g.(?_2591838)_(2610104_?)dup
|
|
|
NC_000011.9:g.(?_2629548)_(2721238_?)dup
|
|
|
NC_000011.9:g.(?_2790054)_(2799287_?)dup
|
|
|
NG_009091.1(KCNE1):g.[66853A>C;66857T>C]
|
rs281865421
|
|
NM_000218.3(KCNQ1):c.1013C>T (p.Ser338Phe)
|
rs199472758
|
|
NM_000218.3(KCNQ1):c.1015T>C (p.Phe339Leu)
|
|
|
NM_000218.3(KCNQ1):c.1016T>A (p.Phe339Tyr)
|
rs199472759
|
|
NM_000218.3(KCNQ1):c.1018T>C (p.Phe340Leu)
|
rs2133750942
|
|
NM_000218.3(KCNQ1):c.1022C>G (p.Ala341Gly)
|
rs12720459
|
|
NM_000218.3(KCNQ1):c.1033-2A>C
|
rs794728523
|
|
NM_000218.3(KCNQ1):c.1045T>C (p.Ser349Pro)
|
rs199472764
|
|
NM_000218.3(KCNQ1):c.1046C>G (p.Ser349Trp)
|
rs199472765
|
|
NM_000218.3(KCNQ1):c.1100A>G (p.Gln367Arg)
|
rs2133754743
|
|
NM_000218.3(KCNQ1):c.1101G>T (p.Gln367His)
|
rs199473663
|
|
NM_000218.3(KCNQ1):c.1111G>C (p.Ala371Pro)
|
rs199473412
|
|
NM_000218.3(KCNQ1):c.1112C>A (p.Ala371Glu)
|
rs1848577150
|
|
NM_000218.3(KCNQ1):c.1120C>T (p.Leu374Phe)
|
|
|
NM_000218.3(KCNQ1):c.1128+2T>A
|
rs2133754863
|
|
NM_000218.3(KCNQ1):c.1166C>T (p.Ser389Phe)
|
|
|
NM_000218.3(KCNQ1):c.1252-2A>C
|
rs771458482
|
|
NM_000218.3(KCNQ1):c.1515-2_1515-1del
|
rs1564886323
|
|
NM_000218.3(KCNQ1):c.1559T>A (p.Met520Lys)
|
|
|
NM_000218.3(KCNQ1):c.1573G>A (p.Ala525Thr)
|
rs120074188
|
|
NM_000218.3(KCNQ1):c.1685+1G>A
|
rs794728531
|
|
NM_000218.3(KCNQ1):c.1686-2A>G
|
rs878854350
|
|
NM_000218.3(KCNQ1):c.1702G>C (p.Gly568Arg)
|
rs199472807
|
|
NM_000218.3(KCNQ1):c.1732+1G>A
|
rs1846719993
|
|
NM_000218.3(KCNQ1):c.1760C>G (p.Thr587Arg)
|
rs120074189
|
|
NM_000218.3(KCNQ1):c.1763T>C (p.Ile588Thr)
|
rs794728576
|
|
NM_000218.3(KCNQ1):c.1781G>C (p.Arg594Pro)
|
rs199472815
|
|
NM_000218.3(KCNQ1):c.1831G>T (p.Asp611Tyr)
|
rs147445322
|
|
NM_000218.3(KCNQ1):c.332A>C (p.Tyr111Ser)
|
|
|
NM_000218.3(KCNQ1):c.341T>C (p.Leu114Pro)
|
rs199473448
|
|
NM_000218.3(KCNQ1):c.349C>A (p.Pro117Thr)
|
rs886037906
|
|
NM_000218.3(KCNQ1):c.350C>T (p.Pro117Leu)
|
rs120074191
|
|
NM_000218.3(KCNQ1):c.355G>A (p.Gly119Ser)
|
|
|
NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg)
|
rs1325525794
|
|
NM_000218.3(KCNQ1):c.386+1G>T
|
rs2133560406
|
|
NM_000218.3(KCNQ1):c.386+2T>G
|
|
|
NM_000218.3(KCNQ1):c.387-5T>A
|
rs794728549
|
|
NM_000218.3(KCNQ1):c.503G>A (p.Gly168Glu)
|
|
|
NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu)
|
rs199472697
|
|
NM_000218.3(KCNQ1):c.550T>C (p.Tyr184His)
|
rs199473661
|
|
NM_000218.3(KCNQ1):c.556G>C (p.Gly186Arg)
|
rs199473398
|
|
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp)
|
rs794728568
|
|
NM_000218.3(KCNQ1):c.569G>C (p.Arg190Pro)
|
rs120074178
|
|
NM_000218.3(KCNQ1):c.603_604+9del
|
rs794728580
|
|
NM_000218.3(KCNQ1):c.605-1G>A
|
rs1564820372
|
|
NM_000218.3(KCNQ1):c.605-1G>C
|
rs1564820372
|
|
NM_000218.3(KCNQ1):c.612C>G (p.Ile204Met)
|
rs199473455
|
|
NM_000218.3(KCNQ1):c.674C>G (p.Ser225Trp)
|
rs199473456
|
|
NM_000218.3(KCNQ1):c.683+1G>A
|
rs1589957233
|
|
NM_000218.3(KCNQ1):c.684-2A>C
|
rs1564820729
|
|
NM_000218.3(KCNQ1):c.721G>T (p.Val241Phe)
|
rs199956744
|
|
NM_000218.3(KCNQ1):c.726C>A (p.Asp242Glu)
|
rs1589957756
|
|
NM_000218.3(KCNQ1):c.727C>A (p.Arg243Ser)
|
rs199472713
|
|
NM_000218.3(KCNQ1):c.728G>T (p.Arg243Leu)
|
|
|
NM_000218.3(KCNQ1):c.742T>C (p.Trp248Arg)
|
rs199473459
|
|
NM_000218.3(KCNQ1):c.752T>A (p.Leu251Gln)
|
rs199472716
|
|
NM_000218.3(KCNQ1):c.780+1G>A
|
rs1564820836
|
|
NM_000218.3(KCNQ1):c.781G>A (p.Glu261Lys)
|
rs199472722
|
|
NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro)
|
rs1564821090
|
|
NM_000218.3(KCNQ1):c.785T>G (p.Leu262Arg)
|
rs1564821090
|
|
NM_000218.3(KCNQ1):c.794C>A (p.Thr265Asn)
|
rs199472724
|
|
NM_000218.3(KCNQ1):c.797T>G (p.Leu266Arg)
|
rs199473460
|
|
NM_000218.3(KCNQ1):c.817C>G (p.Leu273Val)
|
|
|
NM_000218.3(KCNQ1):c.818T>C (p.Leu273Pro)
|
rs199472727
|
|
NM_000218.3(KCNQ1):c.818T>G (p.Leu273Arg)
|
rs199472727
|
|
NM_000218.3(KCNQ1):c.821TCT[1] (p.Phe275del)
|
rs397508126
|
|
NM_000218.3(KCNQ1):c.830C>G (p.Ser277Trp)
|
rs199472730
|
|
NM_000218.3(KCNQ1):c.839T>A (p.Val280Glu)
|
rs199473462
|
|
NM_000218.3(KCNQ1):c.839T>C (p.Val280Ala)
|
|
|
NM_000218.3(KCNQ1):c.845T>C (p.Leu282Pro)
|
rs199472733
|
|
NM_000218.3(KCNQ1):c.847G>C (p.Ala283Pro)
|
rs1060500627
|
|
NM_000218.3(KCNQ1):c.848C>G (p.Ala283Gly)
|
rs199473463
|
|
NM_000218.3(KCNQ1):c.850G>A (p.Glu284Lys)
|
rs199472734
|
|
NM_000218.3(KCNQ1):c.887T>C (p.Phe296Ser)
|
rs199472738
|
|
NM_000218.3(KCNQ1):c.908T>C (p.Leu303Pro)
|
rs199472740
|
|
NM_000218.3(KCNQ1):c.911G>T (p.Trp304Leu)
|
|
|
NM_000218.3(KCNQ1):c.915G>C (p.Trp305Cys)
|
|
|
NM_000218.3(KCNQ1):c.928G>A (p.Val310Ile)
|
rs199472745
|
|
NM_000218.3(KCNQ1):c.941G>A (p.Gly314Asp)
|
rs199472748
|
|
NM_000218.3(KCNQ1):c.943T>A (p.Tyr315Asn)
|
rs1554894448
|
|
NM_000218.3(KCNQ1):c.943T>C (p.Tyr315His)
|
rs1554894448
|
|
NM_000218.3(KCNQ1):c.946G>A (p.Gly316Arg)
|
rs104894255
|
|
NM_000218.3(KCNQ1):c.946G>T (p.Gly316Trp)
|
rs104894255
|
|
NM_000218.3(KCNQ1):c.947G>C (p.Gly316Ala)
|
|
|
NM_000218.3(KCNQ1):c.950A>C (p.Asp317Ala)
|
rs199472750
|
|
NM_000218.3(KCNQ1):c.959C>G (p.Pro320Arg)
|
|
|
NM_000218.3(KCNQ1):c.959C>T (p.Pro320Leu)
|
rs199473470
|
|
NM_000218.3(KCNQ1):c.964A>C (p.Thr322Pro)
|
rs199472754
|
|
NM_000218.3(KCNQ1):c.965C>G (p.Thr322Arg)
|
rs199472755
|
|
NM_000218.3(KCNQ1):c.973G>T (p.Gly325Trp)
|
rs199472756
|
|
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp)
|
rs199473362
|
|
NM_000238.4(KCNH2):c.1128+1G>A
|
rs1405113457
|
|
NM_000238.4(KCNH2):c.1129-831_3109dup
|
|
|
NM_000238.4(KCNH2):c.1289C>A (p.Ala430Asp)
|
rs2116971776
|
|
NM_000238.4(KCNH2):c.1291T>C (p.Phe431Leu)
|
rs1554426244
|
|
NM_000238.4(KCNH2):c.1478A>G (p.Tyr493Cys)
|
rs199472911
|
|
NM_000238.4(KCNH2):c.1557+1G>C
|
rs886039043
|
|
NM_000238.4(KCNH2):c.1558-1G>C
|
rs2116964889
|
|
NM_000238.4(KCNH2):c.1624T>C (p.Tyr542His)
|
|
|
NM_000238.4(KCNH2):c.1673C>A (p.Ala558Glu)
|
rs199472919
|
|
NM_000238.4(KCNH2):c.167G>A (p.Arg56Gln)
|
rs199472845
|
|
NM_000238.4(KCNH2):c.1684C>T (p.His562Tyr)
|
rs794728481
|
|
NM_000238.4(KCNH2):c.1685A>C (p.His562Pro)
|
rs199472922
|
|
NM_000238.4(KCNH2):c.1691T>A (p.Leu564Gln)
|
rs199472924
|
|
NM_000238.4(KCNH2):c.1704G>C (p.Trp568Cys)
|
rs199472926
|
|
NM_000238.4(KCNH2):c.1715G>T (p.Gly572Val)
|
rs199473423
|
|
NM_000238.4(KCNH2):c.172G>A (p.Glu58Lys)
|
rs199473413
|
|
NM_000238.4(KCNH2):c.1745G>T (p.Arg582Leu)
|
rs199473426
|
|
NM_000238.4(KCNH2):c.1805T>C (p.Leu602Pro)
|
rs876661348
|
|
NM_000238.4(KCNH2):c.1813C>T (p.Pro605Ser)
|
rs199472939
|
|
NM_000238.4(KCNH2):c.1828A>G (p.Lys610Glu)
|
rs2116960647
|
|
NM_000238.4(KCNH2):c.1837A>G (p.Thr613Ala)
|
|
|
NM_000238.4(KCNH2):c.1862G>A (p.Ser621Asn)
|
rs199472948
|
|
NM_000238.4(KCNH2):c.1868C>T (p.Thr623Ile)
|
rs199472950
|
|
NM_000238.4(KCNH2):c.1887C>A (p.Asn629Lys)
|
rs41307295
|
|
NM_000238.4(KCNH2):c.1905C>A (p.Asn635Lys)
|
|
|
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del)
|
rs794728442
|
|
NM_000238.4(KCNH2):c.1934T>G (p.Met645Arg)
|
|
|
NM_000238.4(KCNH2):c.1946-4_1948del
|
rs1801137678
|
|
NM_000238.4(KCNH2):c.2145+1G>A
|
rs886039385
|
|
NM_000238.4(KCNH2):c.2146-1G>C
|
|
|
NM_000238.4(KCNH2):c.2146-3_2146-1delinsAA
|
rs1554425320
|
|
NM_000238.4(KCNH2):c.2162C>T (p.Pro721Leu)
|
rs199472986
|
|
NM_000238.4(KCNH2):c.2362G>A (p.Glu788Lys)
|
rs199472997
|
|
NM_000238.4(KCNH2):c.2369T>C (p.Leu790Pro)
|
rs1801084514
|
|
NM_000238.4(KCNH2):c.2398+1G>T
|
rs794728391
|
|
NM_000238.4(KCNH2):c.2398_2398+21del
|
|
|
NM_000238.4(KCNH2):c.2399-108_2488del
|
rs2116940777
|
|
NM_000238.4(KCNH2):c.2399-2A>G
|
|
|
NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys)
|
rs199472999
|
|
NM_000238.4(KCNH2):c.2592+1G>A
|
rs1554424772
|
|
NM_000238.4(KCNH2):c.2593-1G>C
|
|
|
NM_000238.4(KCNH2):c.308-2A>G
|
rs1057520598
|
|
NM_000238.4(KCNH2):c.3152+1G>T
|
rs1057518151
|
|
NM_000238.4(KCNH2):c.3153-1G>C
|
|
|
NM_000238.4(KCNH2):c.322T>C (p.Cys108Arg)
|
rs199472859
|
|
NM_000238.4(KCNH2):c.3365dup (p.Ala1124fs)
|
rs1800857447
|
|
NM_000238.4(KCNH2):c.472+1G>A
|
rs794728477
|
|
NM_000238.4(KCNH2):c.473-2A>G
|
rs2117007319
|
|
NM_000238.4(KCNH2):c.76+1G>A
|
rs2117072529
|
|
NM_000238.4(KCNH2):c.76+2T>A
|
rs794728419
|
|
NM_000238.4(KCNH2):c.76_76+1del
|
rs1563193513
|
|
NM_000238.4(KCNH2):c.77-1G>A
|
rs794728406
|
|
NM_000238.4(KCNH2):c.910_916+11del
|
rs1563169296
|
|
NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg)
|
rs199472884
|
|
NM_000238.4(KCNH2):c.916G>T (p.Gly306Trp)
|
rs199472884
|
|
NM_000238.4(KCNH2):c.917-2A>G
|
rs2116999316
|
|
NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del)
|
rs786205771
|
|
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln)
|
rs199473368
|
|
NM_000891.3(KCNJ2):c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe)
|
rs864622292
|
|
NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys)
|
rs2074387117
|
|
NM_000891.3(KCNJ2):c.557C>A (p.Pro186Gln)
|
rs104894581
|
|
NM_000891.3(KCNJ2):c.566G>A (p.Arg189Lys)
|
rs199473381
|
|
NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr)
|
rs104894583
|
|
NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro)
|
rs199473384
|
|
NM_000891.3(KCNJ2):c.779G>A (p.Arg260His)
|
rs199473385
|
|
NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala)
|
rs199473387
|
|
NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del)
|
rs2074390325
|
|
NM_001106.4(ACVR2B):c.1147C>T (p.Arg383Cys)
|
rs1559655653
|
|
NM_001148.6(ANK2):c.11694+1G>T
|
|
|
NM_001276345.2(TNNT2):c.281G>C (p.Arg94Thr)
|
rs397516452
|
|
NM_001276345.2(TNNT2):c.281G>T (p.Arg94Ile)
|
|
|
NM_001276345.2(TNNT2):c.283G>A (p.Val95Met)
|
rs1659515084
|
|
NM_001276345.2(TNNT2):c.286G>A (p.Asp96Asn)
|
rs1553282768
|
|
NM_001276345.2(TNNT2):c.290T>A (p.Phe97Tyr)
|
|
|
NM_001276345.2(TNNT2):c.290T>G (p.Phe97Cys)
|
|
|
NM_001276345.2(TNNT2):c.304C>G (p.Arg102Gly)
|
|
|
NM_001276345.2(TNNT2):c.309G>T (p.Lys103Asn)
|
rs778426227
|
|
NM_001276345.2(TNNT2):c.324C>A (p.Asp108Glu)
|
rs1553282545
|
|
NM_001276345.2(TNNT2):c.341C>A (p.Ala114Glu)
|
rs727504245
|
|
NM_001276345.2(TNNT2):c.400A>G (p.Lys134Glu)
|
|
|
NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro)
|
rs397516464
|
|
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp)
|
rs45525839
|
|
NM_001276345.2(TNNT2):c.445C>G (p.Arg149Gly)
|
|
|
NM_001276345.2(TNNT2):c.502C>G (p.Arg168Gly)
|
rs730881103
|
|
NM_001276345.2(TNNT2):c.547C>G (p.Arg183Gly)
|
rs727503512
|
|
NM_001276345.2(TNNT2):c.565T>G (p.Ser189Ala)
|
rs377157235
|
|
NM_001276345.2(TNNT2):c.617G>T (p.Arg206Leu)
|
|
|
NM_001276345.2(TNNT2):c.638C>A (p.Thr213Asn)
|
rs397516476
|
|
NM_001276345.2(TNNT2):c.638C>G (p.Thr213Ser)
|
rs397516476
|
|
NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile)
|
rs863225119
|
|
NM_001276345.2(TNNT2):c.886C>A (p.Arg296Ser)
|
rs367785431
|
|
NM_001308093.3(GATA4):c.191G>A (p.Gly64Glu)
|
|
|
NM_001308093.3(GATA4):c.879C>G (p.Cys293Trp)
|
rs2130313407
|
|
NM_001743.6(CALM2):c.268T>C (p.Phe90Leu)
|
|
|
NM_001743.6(CALM2):c.328A>T (p.Met110Leu)
|
rs1553431711
|
|
NM_001743.6(CALM2):c.389A>G (p.Asp130Gly)
|
rs1573214163
|
|
NM_001743.6(CALM2):c.397G>A (p.Gly133Ser)
|
rs2103823599
|
|
NM_001743.6(CALM2):c.423G>C (p.Glu141Asp)
|
rs2103821507
|
|
NM_001743.6(CALM2):c.434T>G (p.Met145Arg)
|
rs1558693760
|
|
NM_004387.4(NKX2-5):c.433T>C (p.Phe145Leu)
|
rs2113901956
|
|
NM_004387.4(NKX2-5):c.457C>G (p.Leu153Val)
|
|
|
NM_004387.4(NKX2-5):c.458T>C (p.Leu153Pro)
|
rs2113901873
|
|
NM_004387.4(NKX2-5):c.668del (p.Leu223fs)
|
rs1581108237
|
|
NM_004387.4(NKX2-5):c.783del (p.Ala262fs)
|
rs587784067
|
|
NM_004387.4(NKX2-5):c.804C>G (p.Tyr268Ter)
|
rs1761346424
|
|
NM_005159.5(ACTC1):c.155A>C (p.Lys52Thr)
|
rs2140432240
|
|
NM_005159.5(ACTC1):c.581T>A (p.Ile194Asn)
|
|
|
NM_005159.5(ACTC1):c.725A>G (p.Tyr242Cys)
|
rs2140430561
|
|
NM_005159.5(ACTC1):c.951G>T (p.Lys317Asn)
|
|
|
NM_005184.4(CALM3):c.422A>G (p.Glu141Gly)
|
rs1555814427
|
|
NM_006888.6(CALM1):c.398G>A (p.Gly133Glu)
|
rs1555366045
|
|
NM_015335.5(MED13L):c.1176-1G>A
|
rs1566010195
|
|
NM_015335.5(MED13L):c.3935-1G>A
|
rs1565995146
|
|
NM_015335.5(MED13L):c.4955+1G>A
|
|
|
NM_015335.5(MED13L):c.5175+1G>A
|
|
|
NM_018055.5(NODAL):c.891+2T>A
|
rs1564667078
|
|
NM_033337.3(CAV3):c.294C>A (p.Cys98Ter)
|
rs200202503
|
|
NM_033337.3(CAV3):c.80G>C (p.Arg27Pro)
|
rs116840778
|
|