NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)
|
rs138776684
|
0.00061
|
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)
|
rs77331749
|
0.00056
|
NM_000238.4(KCNH2):c.2681G>A (p.Arg894His)
|
rs199473668
|
0.00010
|
NM_000238.4(KCNH2):c.1052C>T (p.Ser351Leu)
|
rs759134380
|
0.00001
|
NM_000238.4(KCNH2):c.2053C>T (p.Arg685Cys)
|
rs778135438
|
0.00001
|
NM_000238.4(KCNH2):c.2266A>G (p.Met756Val)
|
rs199473534
|
0.00001
|
NM_000238.4(KCNH2):c.2893G>A (p.Gly965Arg)
|
rs199473015
|
0.00001
|
NM_000238.4(KCNH2):c.1102del (p.His368fs)
|
rs1584863723
|
|
NM_000238.4(KCNH2):c.1139del (p.Leu380fs)
|
rs1563161538
|
|
NM_000238.4(KCNH2):c.1229G>A (p.Trp410Ter)
|
rs199472892
|
|
NM_000238.4(KCNH2):c.1238T>G (p.Leu413Arg)
|
rs199472893
|
|
NM_000238.4(KCNH2):c.1342G>T (p.Ala448Ser)
|
rs767723985
|
|
NM_000238.4(KCNH2):c.1397A>C (p.Asp466Ala)
|
rs1584856497
|
|
NM_000238.4(KCNH2):c.139G>T (p.Gly47Cys)
|
rs794728409
|
|
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.1525G>A (p.Asp509Asn)
|
rs370637245
|
|
NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser)
|
rs9333649
|
|
NM_000238.4(KCNH2):c.1814C>T (p.Pro605Leu)
|
rs199472938
|
|
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met)
|
rs199473524
|
|
NM_000238.4(KCNH2):c.1848C>G (p.Tyr616Ter)
|
rs1563156868
|
|
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser)
|
rs121912507
|
|
NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser)
|
rs199472957
|
|
NM_000238.4(KCNH2):c.1898A>G (p.Asn633Ser)
|
rs199472961
|
|
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del)
|
rs794728442
|
|
NM_000238.4(KCNH2):c.1918T>C (p.Phe640Leu)
|
rs199473529
|
|
NM_000238.4(KCNH2):c.1933A>C (p.Met645Leu)
|
rs199472974
|
|
NM_000238.4(KCNH2):c.1967del (p.Phe656fs)
|
rs1801136696
|
|
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter)
|
rs189014161
|
|
NM_000238.4(KCNH2):c.232_250del (p.Ala78fs)
|
rs1584883087
|
|
NM_000238.4(KCNH2):c.2398+2T>A
|
rs1563152963
|
|
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu)
|
rs121912510
|
|
NM_000238.4(KCNH2):c.2456del (p.Asn819fs)
|
rs794728446
|
|
NM_000238.4(KCNH2):c.2616dup (p.Gly873fs)
|
rs1584847173
|
|
NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs)
|
rs1385959174
|
|
NM_000238.4(KCNH2):c.2705del (p.Pro902fs)
|
rs1563148264
|
|
NM_000238.4(KCNH2):c.2731_2756dup (p.Ser919fs)
|
rs2116933757
|
|
NM_000238.4(KCNH2):c.2906_3089dup (p.Gly989_Ala990insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer)
|
|
|
NM_000238.4(KCNH2):c.2935_2939del (p.Lys979fs)
|
rs1131692327
|
|
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile)
|
rs199473018
|
|
NM_000238.4(KCNH2):c.3017del (p.Gly1006fs)
|
rs794728504
|
|
NM_000238.4(KCNH2):c.3099_3102dup (p.Arg1035fs)
|
rs1584843078
|
|
NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs)
|
rs1584843033
|
|
NM_000238.4(KCNH2):c.3202C>T (p.Gln1068Ter)
|
rs1554423863
|
|
NM_000238.4(KCNH2):c.453del (p.Thr152fs)
|
rs761863251
|
|
NM_000238.4(KCNH2):c.566G>T (p.Gly189Val)
|
rs1584866229
|
|
NM_000238.4(KCNH2):c.678del (p.Ala228fs)
|
rs794728496
|
|
NM_000238.4(KCNH2):c.863T>C (p.Ile288Thr)
|
rs1563169608
|
|
NM_000238.4(KCNH2):c.92T>A (p.Ile31Asn)
|
rs199472833
|
|
NM_000238.4(KCNH2):c.95C>T (p.Ala32Val)
|
rs1801941580
|
|