NM_007078.3(LDB3):c.752A>G (p.Lys251Arg)
|
rs34423165
|
0.01671
|
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)
|
rs1805128
|
0.00841
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)
|
rs72544141
|
0.00085
|
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)
|
rs77331749
|
0.00056
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
NM_033656.4(BRWD1):c.5573A>T (p.Gln1858Leu)
|
rs147211854
|
0.00031
|
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)
|
rs143139258
|
0.00029
|
NM_001492.6(GDF1):c.1091T>C (p.Met364Thr)
|
rs374016704
|
0.00028
|
NM_147191.1(MMP21):c.1203G>A (p.Trp401Ter)
|
rs137955225
|
0.00026
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile)
|
rs149955375
|
0.00022
|
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)
|
rs199473603
|
0.00021
|
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)
|
rs137854617
|
0.00016
|
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter)
|
rs145119918
|
0.00016
|
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)
|
rs200450676
|
0.00014
|
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn)
|
rs387906816
|
0.00014
|
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp)
|
rs199472776
|
0.00013
|
NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met)
|
rs199472706
|
0.00011
|
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys)
|
rs752200396
|
0.00011
|
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)
|
rs137853197
|
0.00011
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00010
|
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu)
|
rs267607124
|
0.00010
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg)
|
rs199830292
|
0.00008
|
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn)
|
rs147445322
|
0.00007
|
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter)
|
rs201850378
|
0.00007
|
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys)
|
rs573916965
|
0.00006
|
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)
|
rs397515912
|
0.00006
|
NM_000352.6(ABCC8):c.1793G>A (p.Arg598Gln)
|
rs1344172059
|
0.00006
|
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)
|
rs201583907
|
0.00006
|
NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys)
|
rs74315449
|
0.00006
|
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)
|
rs74315445
|
0.00005
|
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met)
|
rs199473434
|
0.00005
|
NM_001276345.2(TNNT2):c.863G>A (p.Arg288His)
|
rs397516484
|
0.00005
|
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His)
|
rs199473482
|
0.00004
|
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val)
|
rs199473012
|
0.00004
|
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)
|
rs371488302
|
0.00004
|
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg)
|
rs199473260
|
0.00004
|
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His)
|
rs199473283
|
0.00004
|
NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met)
|
rs762981322
|
0.00004
|
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser)
|
rs397516450
|
0.00004
|
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met)
|
rs397517057
|
0.00004
|
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg)
|
rs121909283
|
0.00004
|
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile)
|
rs199472958
|
0.00003
|
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His)
|
rs199473011
|
0.00003
|
NM_000256.3(MYBPC3):c.1243A>C (p.Ile415Leu)
|
rs1269517446
|
0.00003
|
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His)
|
rs371564200
|
0.00003
|
NM_000257.4(MYH7):c.1000-1G>A
|
rs113392527
|
0.00003
|
NM_000257.4(MYH7):c.1325G>A (p.Arg442His)
|
rs730880870
|
0.00003
|
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)
|
rs2754158
|
0.00003
|
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His)
|
rs199473101
|
0.00003
|
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)
|
rs199473220
|
0.00003
|
NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln)
|
rs773204795
|
0.00003
|
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_172201.2(KCNE2):c.347C>T (p.Ala116Val)
|
rs199473367
|
0.00003
|
NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile)
|
rs199472796
|
0.00002
|
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)
|
rs17221854
|
0.00002
|
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr)
|
rs199472813
|
0.00002
|
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys)
|
rs199472737
|
0.00002
|
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)
|
rs120074187
|
0.00002
|
NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr)
|
rs199473035
|
0.00002
|
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)
|
rs36211723
|
0.00002
|
NM_000256.3(MYBPC3):c.26-2A>G
|
rs376395543
|
0.00002
|
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)
|
rs727504238
|
0.00002
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val)
|
rs199473266
|
0.00002
|
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)
|
rs141322087
|
0.00002
|
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)
|
rs730881151
|
0.00002
|
NM_001386795.1(DTNA):c.177A>G (p.Ile59Met)
|
rs1057518968
|
0.00002
|
NM_031307.4(PUS3):c.838C>T (p.Arg280Ter)
|
rs374443634
|
0.00002
|
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu)
|
rs769531968
|
0.00001
|
NM_000218.3(KCNQ1):c.1032+1G>A
|
rs397508070
|
0.00001
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000218.3(KCNQ1):c.1252-1G>C
|
rs1848628661
|
0.00001
|
NM_000218.3(KCNQ1):c.1598G>A (p.Arg533Gln)
|
rs574321120
|
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.287C>G (p.Thr96Arg)
|
rs1337409061
|
0.00001
|
NM_000218.3(KCNQ1):c.386+16231G>A
|
rs1490391959
|
0.00001
|
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly)
|
rs914460959
|
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.604G>A (p.Asp202Asn)
|
rs199472702
|
0.00001
|
NM_000218.3(KCNQ1):c.643G>A (p.Val215Met)
|
rs17215479
|
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.683+5G>A
|
rs397508122
|
0.00001
|
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)
|
rs199473457
|
0.00001
|
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)
|
rs199472720
|
0.00001
|
NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp)
|
rs199472726
|
0.00001
|
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val)
|
rs193922365
|
0.00001
|
NM_000218.3(KCNQ1):c.944A>T (p.Tyr315Phe)
|
rs74462309
|
0.00001
|
NM_000238.4(KCNH2):c.1052C>T (p.Ser351Leu)
|
rs759134380
|
0.00001
|
NM_000238.4(KCNH2):c.1128+1810C>T
|
rs972201049
|
0.00001
|
NM_000238.4(KCNH2):c.1283C>T (p.Ser428Leu)
|
rs199472899
|
0.00001
|
NM_000238.4(KCNH2):c.1352C>T (p.Pro451Leu)
|
rs199472902
|
0.00001
|
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr)
|
rs199472910
|
0.00001
|
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)
|
rs199473428
|
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_000238.4(KCNH2):c.2053C>T (p.Arg685Cys)
|
rs778135438
|
0.00001
|
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln)
|
rs121912512
|
0.00001
|
NM_000238.4(KCNH2):c.2266A>G (p.Met756Val)
|
rs199473534
|
0.00001
|
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp)
|
rs199473538
|
0.00001
|
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)
|
rs368765949
|
0.00001
|
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)
|
rs397516103
|
0.00001
|
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)
|
rs267606911
|
0.00001
|
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu)
|
rs397516160
|
0.00001
|
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)
|
rs397516201
|
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.4823G>A (p.Arg1608His)
|
rs587779391
|
0.00001
|
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)
|
rs397516265
|
0.00001
|
NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys)
|
rs199473119
|
0.00001
|
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln)
|
rs199473124
|
0.00001
|
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln)
|
rs199473584
|
0.00001
|
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met)
|
rs199473282
|
0.00001
|
NM_000335.5(SCN5A):c.4883G>A (p.Arg1628Gln)
|
rs199473623
|
0.00001
|
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His)
|
rs199473286
|
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.5347G>A (p.Glu1783Lys)
|
rs137854601
|
0.00001
|
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln)
|
rs199473071
|
0.00001
|
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His)
|
rs1057517711
|
0.00001
|
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln)
|
rs730880056
|
0.00001
|
NM_000890.5(KCNJ5):c.473C>G (p.Thr158Arg)
|
rs145901904
|
0.00001
|
NM_000891.3(KCNJ2):c.637C>T (p.Arg213Ter)
|
rs764523123
|
0.00001
|
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr)
|
rs199476321
|
0.00001
|
NM_001136271.3(NKX2-6):c.453_454insT (p.Lys152Ter)
|
rs587777422
|
0.00001
|
NM_001148.6(ANK2):c.10858T>A (p.Trp3620Arg)
|
rs199473346
|
0.00001
|
NM_001267550.2(TTN):c.51436+1G>A
|
rs761807131
|
0.00001
|
NM_001271874.2(AAR2):c.520G>A (p.Val174Met)
|
rs746800707
|
0.00001
|
NM_001276345.2(TNNT2):c.265A>T (p.Ile89Phe)
|
rs746297911
|
0.00001
|
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala)
|
rs397516455
|
0.00001
|
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln)
|
rs121964856
|
0.00001
|
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu)
|
rs727504331
|
0.00001
|
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)
|
rs397516463
|
0.00001
|
NM_001276345.2(TNNT2):c.431G>A (p.Arg144Gln)
|
rs754037135
|
0.00001
|
NM_001276345.2(TNNT2):c.505C>T (p.Arg169Ter)
|
rs397516469
|
0.00001
|
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)
|
rs727504247
|
0.00001
|
NM_001308093.3(GATA4):c.618A>G (p.Val206=)
|
rs1405855570
|
0.00001
|
NM_001386795.1(DTNA):c.1692G>C (p.Glu564Asp)
|
rs1477078144
|
0.00001
|
NM_002941.4(ROBO1):c.355C>T (p.Arg119Ter)
|
rs1017845770
|
0.00001
|
NM_002941.4(ROBO1):c.928C>T (p.Arg310Ter)
|
rs1431830142
|
0.00001
|
NM_003098.3(SNTA1):c.1169C>T (p.Ala390Val)
|
rs121434500
|
0.00001
|
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met)
|
rs1232197674
|
0.00001
|
NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp)
|
rs868064163
|
0.00001
|
NM_004444.5(EPHB4):c.1405G>A (p.Val469Ile)
|
rs775083333
|
0.00001
|
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)
|
rs193922680
|
0.00001
|
NM_018055.5(NODAL):c.891+1G>A
|
rs878855044
|
0.00001
|
NM_031307.4(PUS3):c.340T>C (p.Cys114Arg)
|
rs752052349
|
0.00001
|
NM_033337.3(CAV3):c.169G>A (p.Val57Met)
|
rs116840795
|
0.00001
|
NM_138295.5(PKD1L1):c.5072G>C (p.Cys1691Ser)
|
rs886037834
|
0.00001
|
NM_138295.5(PKD1L1):c.5086_5087del (p.Lys1696fs)
|
rs867742191
|
0.00001
|
NM_138295.5(PKD1L1):c.6396G>A (p.Trp2132Ter)
|
rs765720584
|
0.00001
|
NM_145020.5(CFAP53):c.472A>G (p.Arg158Gly)
|
rs886037751
|
0.00001
|
NM_147191.1(MMP21):c.281G>C (p.Arg94Pro)
|
rs912256328
|
0.00001
|
NM_207396.3(RNF207):c.1109+1G>A
|
rs552508881
|
0.00001
|
46;X;t(Y;16)(q11.23;p11.2);t(6;21)(p21.3;p13)dn
|
|
|
46;XX;inv(7)(q21.2q34)
|
|
|
46;XY;inv(10)(q21.2q22.3)pat
|
|
|
46;XY;t(2;14)(p22;q24.3)dn
|
|
|
46;XY;t(3;5)(q23;q13)dn
|
|
|
GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)
|
|
|
GRCh37/hg19 15q26.2(chr15:96878571-96880063)x1
|
|
|
GRCh37/hg19 3p12.3(chr3:78653578-79071345)x1
|
|
|
NC_000007.13:g.(?_150644396)_(150649961_?)dup
|
|
|
NC_000011.10:g.(?_2587560)_(2587702_?)del
|
|
|
NC_000011.9:g.(2683312_2790073)_(2799268_2868996)dup
|
|
|
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
|
|
|
NC_012920.1:m.6887_6888insGGG
|
rs1569484120
|
|
NG_009091.1(KCNE1):g.[66853A>C;66857T>C]
|
rs281865421
|
|
NM_000069.3(CACNA1S):c.5244del (p.Ser1749fs)
|
|
|
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.1016T>C (p.Phe339Ser)
|
rs199472759
|
|
NM_000218.3(KCNQ1):c.1018T>C (p.Phe340Leu)
|
rs2133750942
|
|
NM_000218.3(KCNQ1):c.1020T>G (p.Phe340Leu)
|
|
|
NM_000218.3(KCNQ1):c.1022C>G (p.Ala341Gly)
|
rs12720459
|
|
NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe)
|
rs199472760
|
|
NM_000218.3(KCNQ1):c.1032+1_1129-1del
|
|
|
NM_000218.3(KCNQ1):c.1032+2T>C
|
rs1848538318
|
|
NM_000218.3(KCNQ1):c.1032+5G>A
|
rs397508071
|
|
NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=)
|
rs1800171
|
|
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.1049G>T (p.Gly350Val)
|
rs794728524
|
|
NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu)
|
rs779383393
|
|
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)
|
rs199473411
|
|
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln)
|
rs199473410
|
|
NM_000218.3(KCNQ1):c.1100A>G (p.Gln367Arg)
|
rs2133754743
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NM_000218.3(KCNQ1):c.1101G>T (p.Gln367His)
|
rs199473663
|
|
NM_000218.3(KCNQ1):c.1109C>A (p.Ala370Glu)
|
rs775362401
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NM_000218.3(KCNQ1):c.1111G>C (p.Ala371Pro)
|
rs199473412
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NM_000218.3(KCNQ1):c.1112C>A (p.Ala371Glu)
|
rs1848577150
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NM_000218.3(KCNQ1):c.1118C>A (p.Ser373Ter)
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|
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NM_000218.3(KCNQ1):c.1120C>T (p.Leu374Phe)
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|
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NM_000218.3(KCNQ1):c.1128+2T>A
|
rs2133754863
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|
NM_000218.3(KCNQ1):c.1166C>T (p.Ser389Phe)
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|
|
NM_000218.3(KCNQ1):c.1214_1215del (p.Leu405fs)
|
rs1848613169
|
|
NM_000218.3(KCNQ1):c.1252-2A>C
|
rs771458482
|
|
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs)
|
rs397508083
|
|
NM_000218.3(KCNQ1):c.1278del (p.Asp426fs)
|
rs1848629484
|
|
NM_000218.3(KCNQ1):c.1459G>T (p.Glu487Ter)
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|
|
NM_000218.3(KCNQ1):c.1487del (p.Leu496fs)
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|
|
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter)
|
rs397508091
|
|
NM_000218.3(KCNQ1):c.1515-2_1515-1del
|
rs1564886323
|
|
NM_000218.3(KCNQ1):c.1522G>T (p.Glu508Ter)
|
rs794728530
|
|
NM_000218.3(KCNQ1):c.1524del (p.Glu508fs)
|
rs1564886349
|
|
NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly)
|
rs17215500
|
|
NM_000218.3(KCNQ1):c.1559T>A (p.Met520Lys)
|
|
|
NM_000218.3(KCNQ1):c.1573G>A (p.Ala525Thr)
|
rs120074188
|
|
NM_000218.3(KCNQ1):c.1579A>G (p.Lys527Glu)
|
|
|
NM_000218.3(KCNQ1):c.1591-1G>A
|
rs1590081328
|
|
NM_000218.3(KCNQ1):c.1616G>A (p.Arg539Gln)
|
rs199472794
|
|
NM_000218.3(KCNQ1):c.1685+1G>A
|
rs794728531
|
|
NM_000218.3(KCNQ1):c.1685+2T>G
|
rs1590081467
|
|
NM_000218.3(KCNQ1):c.1685G>T (p.Arg562Met)
|
rs199472802
|
|
NM_000218.3(KCNQ1):c.1686-2A>G
|
rs878854350
|
|
NM_000218.3(KCNQ1):c.1686-9T>C
|
rs1846716158
|
|
NM_000218.3(KCNQ1):c.1686del
|
rs794728562
|
|
NM_000218.3(KCNQ1):c.1691A>G (p.Asp564Gly)
|
rs1554920808
|
|
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)
|
rs199472804
|
|
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr)
|
rs199472805
|
|
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg)
|
rs199472807
|
|
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.1762A>T (p.Ile588Phe)
|
rs794728536
|
|
NM_000218.3(KCNQ1):c.1763T>C (p.Ile588Thr)
|
rs794728576
|
|
NM_000218.3(KCNQ1):c.1772G>T (p.Arg591Leu)
|
rs199472814
|
|
NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter)
|
rs794728537
|
|
NM_000218.3(KCNQ1):c.1781G>C (p.Arg594Pro)
|
rs199472815
|
|
NM_000218.3(KCNQ1):c.1794+1G>A
|
|
|
NM_000218.3(KCNQ1):c.1794+2_1794+5del
|
rs1846743506
|
|
NM_000218.3(KCNQ1):c.1831G>T (p.Asp611Tyr)
|
rs147445322
|
|
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)
|
rs397508103
|
|
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs)
|
rs1435990592
|
|
NM_000218.3(KCNQ1):c.248del (p.Pro83fs)
|
|
|
NM_000218.3(KCNQ1):c.321G>T (p.Gln107His)
|
rs1554958092
|
|
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.349C>T (p.Pro117Ser)
|
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.364dup (p.Cys122fs)
|
rs397508109
|
|
NM_000218.3(KCNQ1):c.373T>A (p.Tyr125Asn)
|
rs794728578
|
|
NM_000218.3(KCNQ1):c.386+1G>T
|
rs2133560406
|
|
NM_000218.3(KCNQ1):c.386+2T>G
|
|
|
NM_000218.3(KCNQ1):c.387-1G>C
|
|
|
NM_000218.3(KCNQ1):c.387-5T>A
|
rs794728549
|
|
NM_000218.3(KCNQ1):c.403del (p.Val135fs)
|
rs794728565
|
|
NM_000218.3(KCNQ1):c.425del (p.Leu142fs)
|
rs794728566
|
|
NM_000218.3(KCNQ1):c.467T>C (p.Leu156Pro)
|
rs1589931156
|
|
NM_000218.3(KCNQ1):c.488del (p.Leu163fs)
|
rs397508112
|
|
NM_000218.3(KCNQ1):c.503G>A (p.Gly168Glu)
|
|
|
NM_000218.3(KCNQ1):c.506C>G (p.Thr169Arg)
|
rs199472693
|
|
NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter)
|
rs139042529
|
|
NM_000218.3(KCNQ1):c.514_524dup (p.Gly179fs)
|
|
|
NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu)
|
rs199472697
|
|
NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs)
|
rs763462603
|
|
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)
|
rs120074177
|
|
NM_000218.3(KCNQ1):c.535G>C (p.Gly179Arg)
|
|
|
NM_000218.3(KCNQ1):c.550T>C (p.Tyr184His)
|
rs199473661
|
|
NM_000218.3(KCNQ1):c.552del (p.Lys183_Tyr184insTer)
|
rs1848319796
|
|
NM_000218.3(KCNQ1):c.556G>A (p.Gly186Ser)
|
rs199473398
|
|
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.568C>T (p.Arg190Trp)
|
rs199473662
|
|
NM_000218.3(KCNQ1):c.569G>C (p.Arg190Pro)
|
rs120074178
|
|
NM_000218.3(KCNQ1):c.5C>G (p.Ala2Gly)
|
rs199473442
|
|
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.605-2A>G
|
rs2133728692
|
|
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.683+2T>G
|
rs796052166
|
|
NM_000218.3(KCNQ1):c.684-2A>C
|
rs1564820729
|
|
NM_000218.3(KCNQ1):c.721G>T (p.Val241Phe)
|
rs199956744
|
|
NM_000218.3(KCNQ1):c.724G>T (p.Asp242Tyr)
|
rs199472712
|
|
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.760G>A (p.Val254Met)
|
rs120074179
|
|
NM_000218.3(KCNQ1):c.771_775dup (p.Arg259fs)
|
rs2133730742
|
|
NM_000218.3(KCNQ1):c.776G>C (p.Arg259Pro)
|
rs199472720
|
|
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>A (p.Leu262Gln)
|
|
|
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>C (p.Leu266Pro)
|
rs199473460
|
|
NM_000218.3(KCNQ1):c.797T>G (p.Leu266Arg)
|
rs199473460
|
|
NM_000218.3(KCNQ1):c.817C>A (p.Leu273Ile)
|
|
|
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.826del (p.Ser276fs)
|
rs786204778
|
|
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.910T>G (p.Trp304Gly)
|
|
|
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.932C>T (p.Thr311Ile)
|
rs199472746
|
|
NM_000218.3(KCNQ1):c.934A>T (p.Thr312Ser)
|
rs1554894445
|
|
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.944A>G (p.Tyr315Cys)
|
rs74462309
|
|
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.958C>T (p.Pro320Ser)
|
rs199472753
|
|
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>A (p.Thr322Lys)
|
rs199472755
|
|
NM_000218.3(KCNQ1):c.965C>G (p.Thr322Arg)
|
rs199472755
|
|
NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met)
|
rs199472755
|
|
NM_000218.3(KCNQ1):c.973G>T (p.Gly325Trp)
|
rs199472756
|
|
NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs)
|
rs397508134
|
|
NM_000219.6(KCNE1):c.106dup (p.Arg36fs)
|
|
|
NM_000219.6(KCNE1):c.166_180del (p.Phe56_Gly60del)
|
rs1568836457
|
|
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp)
|
rs199473362
|
|
NM_000219.6(KCNE1):c.31_118del (p.Pro11fs)
|
rs1981025573
|
|
NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter)
|
rs1801410644
|
|
NM_000238.4(KCNH2):c.1093del (p.Glu365fs)
|
|
|
NM_000238.4(KCNH2):c.1128+1G>A
|
rs1405113457
|
|
NM_000238.4(KCNH2):c.1128+5_1128+15delinsAC
|
rs2116997026
|
|
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=)
|
rs770047651
|
|
NM_000238.4(KCNH2):c.1129-831_3109dup
|
|
|
NM_000238.4(KCNH2):c.1238T>G (p.Leu413Arg)
|
rs199472893
|
|
NM_000238.4(KCNH2):c.1280A>G (p.Tyr427Cys)
|
rs199472897
|
|
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.139G>T (p.Gly47Cys)
|
rs794728409
|
|
NM_000238.4(KCNH2):c.1402dup (p.Leu468fs)
|
rs869025448
|
|
NM_000238.4(KCNH2):c.1415G>A (p.Arg472His)
|
|
|
NM_000238.4(KCNH2):c.1469C>T (p.Ala490Val)
|
rs1801214475
|
|
NM_000238.4(KCNH2):c.146G>T (p.Cys49Phe)
|
rs199472840
|
|
NM_000238.4(KCNH2):c.1478A>G (p.Tyr493Cys)
|
rs199472911
|
|
NM_000238.4(KCNH2):c.1525G>A (p.Asp509Asn)
|
rs370637245
|
|
NM_000238.4(KCNH2):c.1557+1G>C
|
rs886039043
|
|
NM_000238.4(KCNH2):c.1558-1G>C
|
rs2116964889
|
|
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp)
|
rs199472915
|
|
NM_000238.4(KCNH2):c.1595T>C (p.Leu532Pro)
|
rs1801182500
|
|
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.1694C>G (p.Ala565Gly)
|
|
|
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.1754G>A (p.Trp585Ter)
|
|
|
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.1814C>T (p.Pro605Leu)
|
rs199472938
|
|
NM_000238.4(KCNH2):c.1828A>G (p.Lys610Glu)
|
rs2116960647
|
|
NM_000238.4(KCNH2):c.1831T>G (p.Tyr611Asp)
|
rs199472942
|
|
NM_000238.4(KCNH2):c.1837A>G (p.Thr613Ala)
|
|
|
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met)
|
rs199473524
|
|
NM_000238.4(KCNH2):c.1843C>G (p.Leu615Val)
|
rs199472945
|
|
NM_000238.4(KCNH2):c.1847A>G (p.Tyr616Cys)
|
rs199472946
|
|
NM_000238.4(KCNH2):c.1849T>C (p.Phe617Leu)
|
rs796052195
|
|
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.1874T>C (p.Val625Ala)
|
rs199472951
|
|
NM_000238.4(KCNH2):c.1876G>A (p.Gly626Ser)
|
rs199472953
|
|
NM_000238.4(KCNH2):c.1887C>A (p.Asn629Lys)
|
rs41307295
|
|
NM_000238.4(KCNH2):c.1888G>C (p.Val630Leu)
|
rs199472958
|
|
NM_000238.4(KCNH2):c.1900A>G (p.Thr634Ala)
|
rs794728377
|
|
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.1952T>G (p.Met651Arg)
|
rs1554425569
|
|
NM_000238.4(KCNH2):c.1969G>A (p.Gly657Ser)
|
rs199472978
|
|
NM_000238.4(KCNH2):c.197G>A (p.Cys66Tyr)
|
rs1554430943
|
|
NM_000238.4(KCNH2):c.1983del (p.Ile662fs)
|
rs1584852351
|
|
NM_000238.4(KCNH2):c.2145+1G>A
|
rs886039385
|
|
NM_000238.4(KCNH2):c.2145G>A (p.Ala715=)
|
rs794728384
|
|
NM_000238.4(KCNH2):c.2146-1G>C
|
|
|
NM_000238.4(KCNH2):c.2146-3_2146-1delinsAA
|
rs1554425320
|
|
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln)
|
rs199473421
|
|
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+5G>A
|
|
|
NM_000238.4(KCNH2):c.2398+5G>T
|
rs1554425149
|
|
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.2453C>T (p.Ser818Leu)
|
rs121912510
|
|
NM_000238.4(KCNH2):c.245T>C (p.Ile82Thr)
|
rs1563189895
|
|
NM_000238.4(KCNH2):c.2509G>A (p.Asp837Asn)
|
rs199473005
|
|
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly)
|
rs199473004
|
|
NM_000238.4(KCNH2):c.2592+1G>A
|
rs1554424772
|
|
NM_000238.4(KCNH2):c.2593-1G>C
|
|
|
NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs)
|
rs1131692183
|
|
NM_000238.4(KCNH2):c.2676del (p.Arg893fs)
|
rs1801005389
|
|
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile)
|
rs199473018
|
|
NM_000238.4(KCNH2):c.3060del (p.Ser1021fs)
|
rs864622174
|
|
NM_000238.4(KCNH2):c.307+2T>A
|
rs796052196
|
|
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.3257_3258insG (p.Gly1087fs)
|
|
|
NM_000238.4(KCNH2):c.3365dup (p.Ala1124fs)
|
rs1800857447
|
|
NM_000238.4(KCNH2):c.400G>T (p.Glu134Ter)
|
rs2117011952
|
|
NM_000238.4(KCNH2):c.472+1G>A
|
rs794728477
|
|
NM_000238.4(KCNH2):c.473-2A>G
|
rs2117007319
|
|
NM_000238.4(KCNH2):c.66dup (p.Glu23Ter)
|
rs1554431441
|
|
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.774dup (p.Asp259fs)
|
rs869025447
|
|
NM_000238.4(KCNH2):c.80del (p.Arg27fs)
|
rs2117063981
|
|
NM_000238.4(KCNH2):c.842dup (p.Ala282fs)
|
rs730880374
|
|
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_000238.4(KCNH2):c.92T>A (p.Ile31Asn)
|
rs199472833
|
|
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr)
|
rs199473487
|
|
NM_000256.3(MYBPC3):c.121dup (p.Arg41fs)
|
rs1248588905
|
|
NM_000256.3(MYBPC3):c.1224-19G>A
|
rs587776699
|
|
NM_000256.3(MYBPC3):c.1351+2T>C
|
rs397515897
|
|
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs)
|
rs397515925
|
|
NM_000256.3(MYBPC3):c.1927+600C>T
|
rs1595845204
|
|
NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs)
|
rs727503192
|
|
NM_000256.3(MYBPC3):c.2148+1G>T
|
rs1060499604
|
|
NM_000256.3(MYBPC3):c.2432A>G (p.Lys811Arg)
|
rs1338707268
|
|
NM_000256.3(MYBPC3):c.2572A>C (p.Ser858Arg)
|
rs1595843553
|
|
NM_000256.3(MYBPC3):c.2711_2737del (p.Tyr904_Gly912del)
|
rs2095881732
|
|
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del)
|
rs730880674
|
|
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro)
|
rs187705120
|
|
NM_000256.3(MYBPC3):c.3628-41_3628-17del
|
rs36212066
|
|
NM_000256.3(MYBPC3):c.407-1G>A
|
rs185449721
|
|
NM_000256.3(MYBPC3):c.51dup (p.Ser18fs)
|
rs1595850762
|
|
NM_000256.3(MYBPC3):c.839_840del (p.Gly280fs)
|
|
|
NM_000256.3(MYBPC3):c.884del (p.Phe295fs)
|
rs730880684
|
|
NM_000257.4(MYH7):c.1021T>A (p.Phe341Ile)
|
rs2138677574
|
|
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln)
|
rs397516089
|
|
NM_000257.4(MYH7):c.1141G>A (p.Ala381Thr)
|
rs727504753
|
|
NM_000257.4(MYH7):c.1189A>G (p.Lys397Glu)
|
rs1566535410
|
|
NM_000257.4(MYH7):c.1311C>A (p.Asn437Lys)
|
rs1595086845
|
|
NM_000257.4(MYH7):c.1405G>T (p.Asp469Tyr)
|
rs397516106
|
|
NM_000257.4(MYH7):c.1423C>A (p.Gln475Lys)
|
rs1566534775
|
|
NM_000257.4(MYH7):c.1544T>C (p.Met515Thr)
|
rs863224900
|
|
NM_000257.4(MYH7):c.1559G>T (p.Cys520Phe)
|
rs1892789510
|
|
NM_000257.4(MYH7):c.1858_1859del (p.Leu620fs)
|
rs1566533919
|
|
NM_000257.4(MYH7):c.1998T>A (p.His666Gln)
|
|
|
NM_000257.4(MYH7):c.2086A>C (p.Asn696His)
|
|
|
NM_000257.4(MYH7):c.2114G>A (p.Cys705Tyr)
|
rs1555337916
|
|
NM_000257.4(MYH7):c.2171T>A (p.Ile724Asn)
|
rs397516136
|
|
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.2642T>G (p.Leu881Arg)
|
rs1566531303
|
|
NM_000257.4(MYH7):c.2761G>A (p.Glu921Lys)
|
rs730880759
|
|
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)
|
rs397516178
|
|
NM_000257.4(MYH7):c.323G>A (p.Arg108His)
|
rs730880832
|
|
NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del)
|
rs397516190
|
|
NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp)
|
rs727503249
|
|
NM_000257.4(MYH7):c.4309G>C (p.Ala1437Pro)
|
|
|
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp)
|
rs45544633
|
|
NM_000257.4(MYH7):c.514C>G (p.Gln172Glu)
|
rs2138683978
|
|
NM_000257.4(MYH7):c.5390T>C (p.Leu1797Pro)
|
rs1114167322
|
|
NM_000257.4(MYH7):c.640-2A>T
|
rs2138681961
|
|
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)
|
rs397516264
|
|
NM_000257.4(MYH7):c.732+1del
|
rs397516266
|
|
NM_000257.4(MYH7):c.732+2T>G
|
rs1555338658
|
|
NM_000335.5(SCN5A):c.1338+2T>A
|
rs786204839
|
|
NM_000335.5(SCN5A):c.2335del (p.Gln779fs)
|
rs2061687300
|
|
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser)
|
rs137854609
|
|
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp)
|
rs199473055
|
|
NM_000335.5(SCN5A):c.3388-1G>C
|
|
|
NM_000335.5(SCN5A):c.3509-1G>C
|
rs1553698563
|
|
NM_000335.5(SCN5A):c.3944G>T (p.Arg1315Leu)
|
rs765907469
|
|
NM_000335.5(SCN5A):c.4242+1G>C
|
rs794728879
|
|
NM_000335.5(SCN5A):c.4460C>A (p.Thr1487Lys)
|
rs199473259
|
|
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His)
|
rs137854607
|
|
NM_000335.5(SCN5A):c.483-1G>A
|
rs794728846
|
|
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)
|
rs749697698
|
|
NM_000335.5(SCN5A):c.4865G>T (p.Arg1622Leu)
|
rs137854600
|
|
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile)
|
rs199473293
|
|
NM_000335.5(SCN5A):c.504C>A (p.Tyr168Ter)
|
|
|
NM_000335.5(SCN5A):c.5354T>C (p.Leu1785Pro)
|
rs199473315
|
|
NM_000459.5(TEK):c.3314_3315delinsTGACCT (p.Thr1105fs)
|
rs2131267739
|
|
NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter)
|
rs1555672574
|
|
NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp)
|
rs1467561684
|
|
NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del)
|
rs786205771
|
|
NM_000719.7(CACNA1C):c.2451del (p.Ala818fs)
|
rs2153231721
|
|
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu)
|
rs750835733
|
|
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro)
|
rs730880056
|
|
NM_000719.7(CACNA1C):c.3061T>C (p.Cys1021Arg)
|
rs1057518301
|
|
NM_000719.7(CACNA1C):c.3085A>G (p.Ile1029Val)
|
|
|
NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly)
|
rs794727587
|
|
NM_000719.7(CACNA1C):c.722T>C (p.Val241Ala)
|
rs2099444326
|
|
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln)
|
rs199473368
|
|
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His)
|
rs199473369
|
|
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.461G>A (p.Cys154Tyr)
|
rs199473380
|
|
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.598G>A (p.Val200Met)
|
|
|
NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr)
|
rs104894583
|
|
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)
|
rs104894578
|
|
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.896A>G (p.Glu299Gly)
|
rs786205817
|
|
NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala)
|
rs199473387
|
|
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)
|
rs786205820
|
|
NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del)
|
rs2074390325
|
|
NM_001005242.3(PKP2):c.1903C>T (p.His635Tyr)
|
rs757922359
|
|
NM_001005242.3(PKP2):c.2311_2316delinsGAAA (p.Asn771fs)
|
rs786204395
|
|
NM_001012426.2(FOXP4):c.815del (p.Leu272fs)
|
rs1114167294
|
|
NM_001018005.2(TPM1):c.114+2T>C
|
rs1114167357
|
|
NM_001018005.2(TPM1):c.256G>A (p.Ala86Thr)
|
rs2034911718
|
|
NM_001018005.2(TPM1):c.343G>A (p.Glu115Lys)
|
rs727504313
|
|
NM_001018005.2(TPM1):c.388A>G (p.Ile130Val)
|
rs1114167355
|
|
NM_001018005.2(TPM1):c.479G>A (p.Arg160His)
|
rs199476311
|
|
NM_001018005.2(TPM1):c.519G>C (p.Glu173Asp)
|
rs886037905
|
|
NM_001018005.2(TPM1):c.598G>C (p.Val200Leu)
|
rs2140963813
|
|
NM_001018005.2(TPM1):c.686C>T (p.Ser229Phe)
|
rs1114167356
|
|
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val)
|
rs397516387
|
|
NM_001077653.2(TBX20):c.374C>A (p.Ser125Ter)
|
rs766692577
|
|
NM_001080517.3(SETD5):c.2182del (p.Asp728fs)
|
rs2125288982
|
|
NM_001106.4(ACVR2B):c.1147C>T (p.Arg383Cys)
|
rs1559655653
|
|
NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter)
|
rs398123614
|
|
NM_001127392.3(MYRF):c.1160T>C (p.Phe387Ser)
|
rs2066302424
|
|
NM_001127392.3(MYRF):c.1209G>C (p.Gln403His)
|
rs1027079885
|
|
NM_001127392.3(MYRF):c.1303G>A (p.Gly435Arg)
|
rs1565295550
|
|
NM_001127392.3(MYRF):c.1435C>G (p.Leu479Val)
|
rs2066382188
|
|
NM_001127392.3(MYRF):c.1786C>T (p.Gln596Ter)
|
rs762143393
|
|
NM_001127392.3(MYRF):c.1904-1G>A
|
rs2066445430
|
|
NM_001127392.3(MYRF):c.2036T>C (p.Val679Ala)
|
rs2066476390
|
|
NM_001127392.3(MYRF):c.2084G>A (p.Arg695His)
|
rs1382225004
|
|
NM_001127392.3(MYRF):c.239dup (p.Gly81fs)
|
rs2066051319
|
|
NM_001134363.3(RBM20):c.1904C>G (p.Ser635Cys)
|
rs1114167331
|
|
NM_001136271.3(NKX2-6):c.455dup (p.Gln153fs)
|
rs757292066
|
|
NM_001136271.3(NKX2-6):c.568C>T (p.Gln190Ter)
|
|
|
NM_001148.6(ANK2):c.11694+1G>T
|
|
|
NM_001148.6(ANK2):c.2474C>T (p.Thr825Ile)
|
rs786205420
|
|
NM_001148.6(ANK2):c.3019C>T (p.Arg1007Ter)
|
rs2092061253
|
|
NM_001148.6(ANK2):c.4876A>G (p.Lys1626Glu)
|
rs755287627
|
|
NM_001148.6(ANK2):c.6149T>C (p.Ile2050Thr)
|
rs796052197
|
|
NM_001148.6(ANK2):c.8123T>C (p.Val2708Ala)
|
rs796052198
|
|
NM_001166175.2(NKX2-5):c.*353_*355delinsAT
|
rs397516908
|
|
NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg)
|
rs786205745
|
|
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter)
|
rs397507556
|
|
NM_001267550.2(TTN):c.12438_12448del (p.Ser4147fs)
|
rs1553939749
|
|
NM_001267550.2(TTN):c.42909_42910del (p.Cys14303fs)
|
rs1114167333
|
|
NM_001267550.2(TTN):c.45316_45320dup (p.Arg15108fs)
|
rs794729390
|
|
NM_001267550.2(TTN):c.54768del (p.Ser18258fs)
|
rs1114167335
|
|
NM_001267550.2(TTN):c.61682C>G (p.Ser20561Ter)
|
rs1114167324
|
|
NM_001267550.2(TTN):c.65035_65036del (p.Ala21679fs)
|
rs1114167323
|
|
NM_001267550.2(TTN):c.75727G>T (p.Glu25243Ter)
|
rs1114167338
|
|
NM_001267550.2(TTN):c.87355del (p.Ala29119fs)
|
rs794729356
|
|
NM_001270974.2(HYDIN):c.10816G>T (p.Gly3606Ter)
|
rs1567744830
|
|
NM_001276345.2(TNNT2):c.274G>A (p.Gly92Arg)
|
rs727504255
|
|
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.310C>T (p.Arg104Cys)
|
rs727503513
|
|
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu)
|
rs397516457
|
|
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn)
|
rs397516459
|
|
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.375del (p.Glu126fs)
|
rs560019679
|
|
NM_001276345.2(TNNT2):c.400A>G (p.Lys134Glu)
|
|
|
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)
|
rs74315380
|
|
NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro)
|
rs397516464
|
|
NM_001276345.2(TNNT2):c.430C>G (p.Arg144Gly)
|
rs45525839
|
|
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp)
|
rs45525839
|
|
NM_001276345.2(TNNT2):c.433del (p.Ala145fs)
|
|
|
NM_001276345.2(TNNT2):c.445C>G (p.Arg149Gly)
|
|
|
NM_001276345.2(TNNT2):c.502C>G (p.Arg168Gly)
|
rs730881103
|
|
NM_001276345.2(TNNT2):c.506G>A (p.Arg169Gln)
|
rs45501500
|
|
NM_001276345.2(TNNT2):c.508GAG[5] (p.Glu173dup)
|
rs397516470
|
|
NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys)
|
rs1558225569
|
|
NM_001276345.2(TNNT2):c.547C>G (p.Arg183Gly)
|
rs727503512
|
|
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln)
|
rs397516471
|
|
NM_001276345.2(TNNT2):c.565T>G (p.Ser189Ala)
|
rs377157235
|
|
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe)
|
rs727504246
|
|
NM_001276345.2(TNNT2):c.616C>T (p.Arg206Trp)
|
rs730881106
|
|
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.644G>C (p.Arg215Pro)
|
rs121964860
|
|
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)
|
rs45578238
|
|
NM_001276345.2(TNNT2):c.68-2A>G
|
|
|
NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile)
|
rs863225119
|
|
NM_001276345.2(TNNT2):c.851+1G>A
|
rs111377893
|
|
NM_001276345.2(TNNT2):c.851+1G>T
|
rs111377893
|
|
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro)
|
rs397516484
|
|
NM_001276345.2(TNNT2):c.886C>A (p.Arg296Ser)
|
rs367785431
|
|
NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter)
|
rs730881116
|
|
NM_001277115.2(DNAH11):c.13346_13367del (p.Arg4449fs)
|
rs1257886811
|
|
NM_001277115.2(DNAH11):c.3253C>T (p.Gln1085Ter)
|
rs1562691736
|
|
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter)
|
rs1057518422
|
|
NM_001292034.3(TAB2):c.1104C>G (p.Tyr368Ter)
|
rs2114886711
|
|
NM_001292034.3(TAB2):c.1340_1341del (p.Ser447fs)
|
rs2114887873
|
|
NM_001292034.3(TAB2):c.1433_1448del (p.Pro478fs)
|
|
|
NM_001292034.3(TAB2):c.1501G>T (p.Glu501Ter)
|
|
|
NM_001292034.3(TAB2):c.1522del (p.Asp508fs)
|
|
|
NM_001292034.3(TAB2):c.1526del (p.Pro509fs)
|
rs1781533816
|
|
NM_001292034.3(TAB2):c.1591_1593delinsTTTT (p.Ala531fs)
|
|
|
NM_001292034.3(TAB2):c.1764+1G>A
|
rs1782223593
|
|
NM_001292034.3(TAB2):c.548C>T (p.Pro183Leu)
|
|
|
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter)
|
rs1479104927
|
|
NM_001292034.3(TAB2):c.814C>T (p.Gln272Ter)
|
rs2114885325
|
|
NM_001292034.3(TAB2):c.878del (p.Ser293fs)
|
rs1554263268
|
|
NM_001308093.3(GATA4):c.1312G>A (p.Gly438Arg)
|
rs748737164
|
|
NM_001308093.3(GATA4):c.191G>A (p.Gly64Glu)
|
|
|
NM_001308093.3(GATA4):c.851G>A (p.Arg284His)
|
rs180765750
|
|
NM_001308093.3(GATA4):c.879C>G (p.Cys293Trp)
|
rs2130313407
|
|
NM_001308093.3(GATA4):c.961C>T (p.Arg321Trp)
|
rs1282433424
|
|
NM_001354640.2(CIROP):c.1331dup (p.Leu444fs)
|
|
|
NM_001377.3(DYNC2H1):c.5920G>T (p.Gly1974Ter)
|
rs1861879186
|
|
NM_001379200.1(TBX1):c.412G>A (p.Glu138Lys)
|
rs1445910672
|
|
NM_001379200.1(TBX1):c.437+1G>C
|
|
|
NM_001379200.1(TBX1):c.503T>C (p.Leu168Pro)
|
rs1936727304
|
|
NM_001406838.1(KCNQ1):c.478-12807del
|
rs1848316236
|
|
NM_001451.3(FOXF1):c.1140A>C (p.Ter380Cys)
|
rs1567511932
|
|
NM_001451.3(FOXF1):c.166C>G (p.Leu56Val)
|
rs1969548621
|
|
NM_001451.3(FOXF1):c.179C>T (p.Ala60Val)
|
rs2143184507
|
|
NM_001451.3(FOXF1):c.256C>T (p.Arg86Trp)
|
|
|
NM_001451.3(FOXF1):c.266A>G (p.Tyr89Cys)
|
rs1969550367
|
|
NM_001451.3(FOXF1):c.280A>T (p.Asn94Tyr)
|
rs1057518868
|
|
NM_001451.3(FOXF1):c.286G>T (p.Val96Leu)
|
rs1969550532
|
|
NM_001451.3(FOXF1):c.413G>C (p.Arg138Pro)
|
rs1597291380
|
|
NM_001451.3(FOXF1):c.841_862del (p.Gly281fs)
|
|
|
NM_001451.3(FOXF1):c.950del (p.Asn317fs)
|
rs1969566259
|
|
NM_001492.6(GDF1):c.1047_1050del (p.Phe349fs)
|
rs768027510
|
|
NM_001492.6(GDF1):c.380G>A (p.Trp127Ter)
|
rs900625437
|
|
NM_001492.6(GDF1):c.776_801del (p.Leu259fs)
|
rs1555702261
|
|
NM_001492.6(GDF1):c.[1008C>G];[681C>A]
|
|
|
NM_001743.6(CALM2):c.268T>C (p.Phe90Leu)
|
|
|
NM_001743.6(CALM2):c.293A>G (p.Asn98Ser)
|
rs398124647
|
|
NM_001743.6(CALM2):c.293A>T (p.Asn98Ile)
|
rs398124647
|
|
NM_001743.6(CALM2):c.313G>C (p.Glu105Gln)
|
|
|
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.396T>G (p.Asp132Glu)
|
rs398124648
|
|
NM_001743.6(CALM2):c.397G>A (p.Gly133Ser)
|
rs2103823599
|
|
NM_001743.6(CALM2):c.400G>A (p.Asp134Asn)
|
rs398124650
|
|
NM_001743.6(CALM2):c.400G>C (p.Asp134His)
|
rs398124650
|
|
NM_001743.6(CALM2):c.407A>C (p.Gln136Pro)
|
rs398124649
|
|
NM_001743.6(CALM2):c.423G>C (p.Glu141Asp)
|
rs2103821507
|
|
NM_001743.6(CALM2):c.434T>G (p.Met145Arg)
|
rs1558693760
|
|
NM_001927.4(DES):c.407T>C (p.Leu136Pro)
|
rs397516695
|
|
NM_001943.5(DSG2):c.2750del (p.Ala917fs)
|
|
|
NM_002471.4(MYH6):c.1223G>A (p.Gly408Asp)
|
|
|
NM_002471.4(MYH6):c.1962+2T>C
|
|
|
NM_002471.4(MYH6):c.2033A>G (p.Asn678Ser)
|
rs515726230
|
|
NM_002941.4(ROBO1):c.2840-1G>C
|
rs1706274257
|
|
NM_003072.5(SMARCA4):c.2900G>A (p.Arg967His)
|
rs1085307769
|
|
NM_003098.3(SNTA1):c.1498C>T (p.Arg500Cys)
|
rs786205426
|
|
NM_003221.4(TFAP2B):c.707G>A (p.Arg236His)
|
rs1325125531
|
|
NM_003221.4(TFAP2B):c.981C>A (p.Cys327Ter)
|
|
|
NM_003413.4(ZIC3):c.1079G>A (p.Cys360Tyr)
|
|
|
NM_003413.4(ZIC3):c.764G>C (p.Trp255Ser)
|
rs886041111
|
|
NM_003413.4(ZIC3):c.958C>T (p.Arg320Ter)
|
rs1602743059
|
|
NM_004115.4(FGF14):c.486dup (p.Arg163fs)
|
rs1566823361
|
|
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)
|
rs180177039
|
|
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)
|
rs1567263168
|
|
NM_004387.4(NKX2-5):c.335-3C>G
|
rs876657934
|
|
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.469T>G (p.Phe157Val)
|
|
|
NM_004387.4(NKX2-5):c.668del (p.Leu223fs)
|
rs1581108237
|
|
NM_004387.4(NKX2-5):c.746del (p.Gly249fs)
|
|
|
NM_004387.4(NKX2-5):c.752del (p.Asn251fs)
|
rs879253754
|
|
NM_004387.4(NKX2-5):c.783del (p.Ala262fs)
|
rs587784067
|
|
NM_004387.4(NKX2-5):c.804C>G (p.Tyr268Ter)
|
rs1761346424
|
|
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)
|
rs121912997
|
|
NM_004444.5(EPHB4):c.980C>T (p.Pro327Leu)
|
rs1057515420
|
|
NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly)
|
rs1057518914
|
|
NM_004985.5(KRAS):c.197_223dup (p.Ala66_Thr74dup)
|
rs2141509708
|
|
NM_005089.4(ZRSR2):c.1207_1208del (p.Arg403fs)
|
rs1933151965
|
|
NM_005126.5(NR1D2):c.523C>T (p.Arg175Trp)
|
rs1358487339
|
|
NM_005159.5(ACTC1):c.155A>C (p.Lys52Thr)
|
rs2140432240
|
|
NM_005159.5(ACTC1):c.312del (p.Thr105fs)
|
rs1891747424
|
|
NM_005159.5(ACTC1):c.382A>G (p.Thr128Ala)
|
rs1595761333
|
|
NM_005159.5(ACTC1):c.581T>A (p.Ile194Asn)
|
|
|
NM_005159.5(ACTC1):c.635G>A (p.Arg212His)
|
rs397517067
|
|
NM_005159.5(ACTC1):c.663_679dup (p.Asn227fs)
|
rs2140430645
|
|
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr)
|
rs1555418793
|
|
NM_005159.5(ACTC1):c.725A>G (p.Tyr242Cys)
|
rs2140430561
|
|
NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr)
|
rs397517071
|
|
NM_005159.5(ACTC1):c.951G>T (p.Lys317Asn)
|
|
|
NM_005184.4(CALM3):c.422A>G (p.Glu141Gly)
|
rs1555814427
|
|
NM_005632.2:c.2904+1_2905-45del
|
|
|
NM_005751.5(AKAP9):c.10865G>A (p.Trp3622Ter)
|
rs1563145763
|
|
NM_005751.5(AKAP9):c.1489G>T (p.Glu497Ter)
|
rs730880043
|
|
NM_005751.5(AKAP9):c.2295T>A (p.Asp765Glu)
|
rs796052199
|
|
NM_005751.5(AKAP9):c.5341T>A (p.Ser1781Thr)
|
rs796052200
|
|
NM_006079.5(CITED2):c.701A>C (p.Glu234Ala)
|
rs1583066622
|
|
NM_006888.6(CALM1):c.268T>C (p.Phe90Leu)
|
rs730882253
|
|
NM_006888.6(CALM1):c.398G>A (p.Gly133Glu)
|
rs1555366045
|
|
NM_007078.3(LDB3):c.718G>A (p.Asp240Asn)
|
rs959113234
|
|
NM_007363.5(NONO):c.246_249del (p.Pro83fs)
|
rs2031334549
|
|
NM_013266.4(CTNNA3):c.160del (p.Arg54fs)
|
|
|
NM_014209.4(ETV2):c.350del (p.Gly117fs)
|
rs755996862
|
|
NM_014209.4(ETV2):c.757G>T (p.Asp253Tyr)
|
rs371833362
|
|
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_015335.5(MED13L):c.6488C>T (p.Ser2163Leu)
|
rs1565981137
|
|
NM_015559.3(SETBP1):c.2614G>A (p.Gly872Arg)
|
rs1555706928
|
|
NM_017617.5(NOTCH1):c.1077C>A (p.Cys359Ter)
|
rs202235419
|
|
NM_017617.5(NOTCH1):c.1651dup (p.Thr551fs)
|
rs1843262329
|
|
NM_017617.5(NOTCH1):c.1810del (p.Ile604fs)
|
rs1589066272
|
|
NM_017617.5(NOTCH1):c.2014+1G>A
|
rs515726232
|
|
NM_017617.5(NOTCH1):c.2741-1G>A
|
rs1843152606
|
|
NM_017617.5(NOTCH1):c.5061G>T (p.Gln1687His)
|
rs515726233
|
|
NM_017617.5(NOTCH1):c.5281del (p.Arg1761fs)
|
rs515726231
|
|
NM_017617.5(NOTCH1):c.5385-1G>A
|
rs1843006535
|
|
NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter)
|
rs367557471
|
|
NM_018055.5(NODAL):c.158_165del (p.Pro53fs)
|
|
|
NM_018055.5(NODAL):c.194-1G>T
|
rs1564667617
|
|
NM_018055.5(NODAL):c.2T>C (p.Met1Thr)
|
|
|
NM_018055.5(NODAL):c.700_707del (p.Arg234fs)
|
rs1564667180
|
|
NM_018055.5(NODAL):c.824G>A (p.Arg275His)
|
rs555563029
|
|
NM_018055.5(NODAL):c.891+2T>A
|
rs1564667078
|
|
NM_018365.4(MNS1):c.407_410del (p.Glu136fs)
|
rs1596264554
|
|
NM_018365.4(MNS1):c.538C>T (p.Arg180Ter)
|
|
|
NM_018365.4(MNS1):c.675AGA[1] (p.Glu226del)
|
|
|
NM_018486.3(HDAC8):c.584T>G (p.Val195Gly)
|
rs1556009247
|
|
NM_020774.4(MIB1):c.2039del (p.Gln680fs)
|
rs757527279
|
|
NM_020774.4(MIB1):c.2878C>T (p.Gln960Ter)
|
rs1430105900
|
|
NM_021005.4(NR2F2):c.1019del (p.Lys340fs)
|
|
|
NM_021005.4(NR2F2):c.558dup (p.Arg187fs)
|
|
|
NM_021005.4(NR2F2):c.83_84dup (p.Val29fs)
|
rs1555446983
|
|
NM_021267.5(CERS1):c.*1120G>A
|
rs2145985085
|
|
NM_022114.4(PRDM16):c.2434del (p.Arg812fs)
|
|
|
NM_022114.4(PRDM16):c.3142del (p.Leu1048fs)
|
|
|
NM_022114.4(PRDM16):c.3271C>T (p.Arg1091Ter)
|
|
|
NM_033337.3(CAV3):c.213G>A (p.Trp71Ter)
|
rs2124988406
|
|
NM_033337.3(CAV3):c.294C>A (p.Cys98Ter)
|
rs200202503
|
|
NM_033337.3(CAV3):c.299T>A (p.Ile100Asn)
|
rs1708139265
|
|
NM_033337.3(CAV3):c.37A>T (p.Ile13Phe)
|
rs796052171
|
|
NM_033337.3(CAV3):c.80G>C (p.Arg27Pro)
|
rs116840778
|
|
NM_080680.3(COL11A2):c.966dup (p.Thr323fs)
|
rs748440351
|
|
NM_133444.3(ZNF526):c.479A>C (p.Lys160Thr)
|
rs730882205
|
|
NM_138295.5(PKD1L1):c.1071del (p.His358fs)
|
|
|
NM_138295.5(PKD1L1):c.2453+1G>A
|
|
|
NM_138295.5(PKD1L1):c.4938T>G (p.Tyr1646Ter)
|
rs2128741114
|
|
NM_138295.5(PKD1L1):c.6124del (p.His2042fs)
|
|
|
NM_138295.5(PKD1L1):c.6748C>T (p.Arg2250Ter)
|
|
|
NM_145020.5(CFAP53):c.301_473+1del
|
rs1555672928
|
|
NM_145020.5(CFAP53):c.877C>T (p.Gln293Ter)
|
rs897584290
|
|
NM_145054.5(CFAP52):c.1304del (p.Gly435fs)
|
rs1360832162
|
|
NM_147191.1(MMP21):c.1303del (p.Ser435fs)
|
|
|
NM_147191.1(MMP21):c.240dup (p.Lys81fs)
|
rs886041273
|
|
NM_147191.1(MMP21):c.557G>T (p.Ser186Ile)
|
rs1312300020
|
|
NM_181486.4(TBX5):c.253C>A (p.Pro85Thr)
|
rs1565941579
|
|
NM_181486.4(TBX5):c.301A>T (p.Ile101Phe)
|
rs515726234
|
|
NM_181486.4(TBX5):c.404T>G (p.Leu135Arg)
|
rs1057519050
|
|
Single allele
|
|
|