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
|
NC_000007.13:g.(?_150644396)_(150649961_?)dup
|
|
|
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
|
|