Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.128839201G>ACA383242853KCNJ1c.1043C>T (p.Ala348Val)
c.1100C>T (p.Ala367Val)
c.1094C>T (p.Ala365Val)
11g.128839201G>CCA383242854KCNJ1c.1043C>G (p.Ala348Gly)
c.1100C>G (p.Ala367Gly)
c.1094C>G (p.Ala365Gly)
11g.128839201G=CA2008286131KCNJ1c.1043C= (p.Ala348=)
c.1100C= (p.Ala367=)
c.1094C= (p.Ala365=)
11g.128839201G>TCA6357389KCNJ1c.1043C>A (p.Ala348Asp)
c.1100C>A (p.Ala367Asp)
c.1094C>A (p.Ala365Asp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839202C>ACA383242855KCNJ1c.1042G>T (p.Ala348Ser)
c.1099G>T (p.Ala367Ser)
c.1093G>T (p.Ala365Ser)
11g.128839202C=CA2008286134KCNJ1c.1042G= (p.Ala348=)
c.1099G= (p.Ala367=)
c.1093G= (p.Ala365=)
11g.128839202C>GCA383242857KCNJ1c.1042G>C (p.Ala348Pro)
c.1099G>C (p.Ala367Pro)
c.1093G>C (p.Ala365Pro)
11g.128839202C>TCA230627686KCNJ1c.1042G>A (p.Ala348Thr)
c.1099G>A (p.Ala367Thr)
c.1093G>A (p.Ala365Thr)
dbSNP gnomAD v4
11g.128839203T>ACA383242860KCNJ1c.1041A>T (p.Arg347Ser)
c.1098A>T (p.Arg366Ser)
c.1092A>T (p.Arg364Ser)
11g.128839203T>CCA477702714KCNJ1c.1041A>G (p.Arg347=)
c.1098A>G (p.Arg366=)
c.1092A>G (p.Arg364=)
11g.128839203T>GCA383242859KCNJ1c.1041A>C (p.Arg347Ser)
c.1098A>C (p.Arg366Ser)
c.1092A>C (p.Arg364Ser)
11g.128839203_128839205delCA2794083156KCNJ1c.1039_1041del (p.Arg347del)
c.1096_1098del (p.Arg366del)
c.1090_1092del (p.Arg364del)
11g.128839204C>ACA383242862KCNJ1c.1040G>T (p.Arg347Ile)
c.1097G>T (p.Arg366Ile)
c.1091G>T (p.Arg364Ile)
11g.128839204C=CA2008286136KCNJ1c.1040G= (p.Arg347=)
c.1097G= (p.Arg366=)
c.1091G= (p.Arg364=)
11g.128839204C>GCA6357390KCNJ1c.1040G>C (p.Arg347Thr)
c.1097G>C (p.Arg366Thr)
c.1091G>C (p.Arg364Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839204C>TCA383242863KCNJ1c.1040G>A (p.Arg347Lys)
c.1097G>A (p.Arg366Lys)
c.1091G>A (p.Arg364Lys)
11g.128839205T>ACA383242865KCNJ1c.1039A>T (p.Arg347Ter)
c.1096A>T (p.Arg366Ter)
c.1090A>T (p.Arg364Ter)
11g.128839205T>CCA383242867KCNJ1c.1039A>G (p.Arg347Gly)
c.1096A>G (p.Arg366Gly)
c.1090A>G (p.Arg364Gly)
dbSNP gnomAD v2 gnomAD v4
11g.128839205T>GCA477702716KCNJ1c.1039A>C (p.Arg347=)
c.1096A>C (p.Arg366=)
c.1090A>C (p.Arg364=)
COSMIC
11g.128839205T=CA2008286140KCNJ1c.1039A= (p.Arg347=)
c.1096A= (p.Arg366=)
c.1090A= (p.Arg364=)
11g.128839206A=CA2008286142KCNJ1c.1038T= (p.Val346=)
c.1095T= (p.Val365=)
c.1089T= (p.Val363=)
11g.128839206A>CCA477702718KCNJ1c.1038T>G (p.Val346=)
c.1095T>G (p.Val365=)
c.1089T>G (p.Val363=)
11g.128839206A>GCA230627697KCNJ1c.1038T>C (p.Val346=)
c.1095T>C (p.Val365=)
c.1089T>C (p.Val363=)
dbSNP gnomAD v4
11g.128839206A>TCA477702719KCNJ1c.1038T>A (p.Val346=)
c.1095T>A (p.Val365=)
c.1089T>A (p.Val363=)
11g.128839206_128839207insGCGGAGCA2794083157KCNJ1c.1037_1038insCTCCGC (p.Val346_Arg347insSerAla)
c.1094_1095insCTCCGC (p.Val365_Arg366insSerAla)
c.1088_1089insCTCCGC (p.Val363_Arg364insSerAla)
11g.128839207A>CCA383242874KCNJ1c.1037T>G (p.Val346Gly)
c.1094T>G (p.Val365Gly)
c.1088T>G (p.Val363Gly)
11g.128839207A>GCA383242870KCNJ1c.1037T>C (p.Val346Ala)
c.1094T>C (p.Val365Ala)
c.1088T>C (p.Val363Ala)
11g.128839207A>TCA383242872KCNJ1c.1037T>A (p.Val346Asp)
c.1094T>A (p.Val365Asp)
c.1088T>A (p.Val363Asp)
11g.128839208C>ACA383242877KCNJ1c.1036G>T (p.Val346Phe)
c.1093G>T (p.Val365Phe)
c.1087G>T (p.Val363Phe)
11g.128839208C=CA2008286144KCNJ1c.1036G= (p.Val346=)
c.1093G= (p.Val365=)
c.1087G= (p.Val363=)
11g.128839208C>GCA383242878KCNJ1c.1036G>C (p.Val346Leu)
c.1093G>C (p.Val365Leu)
c.1087G>C (p.Val363Leu)
11g.128839208C>TCA6357391KCNJ1c.1036G>A (p.Val346Ile)
c.1093G>A (p.Val365Ile)
c.1087G>A (p.Val363Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839209A>CCA383242881KCNJ1c.1035T>G (p.Asp345Glu)
c.1092T>G (p.Asp364Glu)
c.1086T>G (p.Asp362Glu)
11g.128839209A>GCA477702721KCNJ1c.1035T>C (p.Asp345=)
c.1092T>C (p.Asp364=)
c.1086T>C (p.Asp362=)
11g.128839209A>TCA383242883KCNJ1c.1035T>A (p.Asp345Glu)
c.1092T>A (p.Asp364Glu)
c.1086T>A (p.Asp362Glu)
11g.128839209_128839210delCA2794083158KCNJ1c.1034_1035del (p.Asp345GlyfsTer2)
c.1091_1092del (p.Asp364GlyfsTer2)
c.1085_1086del (p.Asp362GlyfsTer2)
11g.128839210T>ACA383242887KCNJ1c.1034A>T (p.Asp345Val)
c.1091A>T (p.Asp364Val)
c.1085A>T (p.Asp362Val)
11g.128839210T>CCA6357392KCNJ1c.1034A>G (p.Asp345Gly)
c.1091A>G (p.Asp364Gly)
c.1085A>G (p.Asp362Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839210T>GCA6357393KCNJ1c.1034A>C (p.Asp345Ala)
c.1091A>C (p.Asp364Ala)
c.1085A>C (p.Asp362Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839210T=CA2008286152KCNJ1c.1034A= (p.Asp345=)
c.1091A= (p.Asp364=)
c.1085A= (p.Asp362=)
11g.128839211C>ACA383242888KCNJ1c.1033G>T (p.Asp345Tyr)
c.1090G>T (p.Asp364Tyr)
c.1084G>T (p.Asp362Tyr)
11g.128839211C=CA2008286155KCNJ1c.1033G= (p.Asp345=)
c.1090G= (p.Asp364=)
c.1084G= (p.Asp362=)
11g.128839211C>GCA383242890KCNJ1c.1033G>C (p.Asp345His)
c.1090G>C (p.Asp364His)
c.1084G>C (p.Asp362His)
dbSNP gnomAD v3 gnomAD v4
11g.128839211C>TCA383242892KCNJ1c.1033G>A (p.Asp345Asn)
c.1090G>A (p.Asp364Asn)
c.1084G>A (p.Asp362Asn)
11g.128839212T>ACA383242893KCNJ1c.1032A>T (p.Lys344Asn)
c.1089A>T (p.Lys363Asn)
c.1083A>T (p.Lys361Asn)
11g.128839212T>CCA477702722KCNJ1c.1032A>G (p.Lys344=)
c.1089A>G (p.Lys363=)
c.1083A>G (p.Lys361=)
11g.128839212T>GCA383242895KCNJ1c.1032A>C (p.Lys344Asn)
c.1089A>C (p.Lys363Asn)
c.1083A>C (p.Lys361Asn)
11g.128839213T>ACA383242896KCNJ1c.1031A>T (p.Lys344Ile)
c.1088A>T (p.Lys363Ile)
c.1082A>T (p.Lys361Ile)
11g.128839213T>CCA383242897KCNJ1c.1031A>G (p.Lys344Arg)
c.1088A>G (p.Lys363Arg)
c.1082A>G (p.Lys361Arg)
11g.128839213T>GCA6357394KCNJ1c.1031A>C (p.Lys344Thr)
c.1088A>C (p.Lys363Thr)
c.1082A>C (p.Lys361Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839213T=CA2008286158KCNJ1c.1031A= (p.Lys344=)
c.1088A= (p.Lys363=)
c.1082A= (p.Lys361=)
11g.128839214T>ACA383242901KCNJ1c.1030A>T (p.Lys344Ter)
c.1087A>T (p.Lys363Ter)
c.1081A>T (p.Lys361Ter)
11g.128839214T>CCA383242902KCNJ1c.1030A>G (p.Lys344Glu)
c.1087A>G (p.Lys363Glu)
c.1081A>G (p.Lys361Glu)
11g.128839214T>GCA383242904KCNJ1c.1030A>C (p.Lys344Gln)
c.1087A>C (p.Lys363Gln)
c.1081A>C (p.Lys361Gln)
11g.128839215C>ACA383242906KCNJ1c.1029G>T (p.Glu343Asp)
c.1086G>T (p.Glu362Asp)
c.1080G>T (p.Glu360Asp)
11g.128839215C>GCA383242908KCNJ1c.1029G>C (p.Glu343Asp)
c.1086G>C (p.Glu362Asp)
c.1080G>C (p.Glu360Asp)
11g.128839215C>TCA477702726KCNJ1c.1029G>A (p.Glu343=)
c.1086G>A (p.Glu362=)
c.1080G>A (p.Glu360=)
11g.128839216T>ACA383242910KCNJ1c.1028A>T (p.Glu343Val)
c.1085A>T (p.Glu362Val)
c.1079A>T (p.Glu360Val)
dbSNP gnomAD v2
11g.128839216T>CCA383242913KCNJ1c.1028A>G (p.Glu343Gly)
c.1085A>G (p.Glu362Gly)
c.1079A>G (p.Glu360Gly)
gnomAD v4
11g.128839216T>GCA216035KCNJ1c.1028A>C (p.Glu343Ala)
c.1085A>C (p.Glu362Ala)
c.1079A>C (p.Glu360Ala)
ClinVar dbSNP
11g.128839216T=CA2008286160KCNJ1c.1028A= (p.Glu343=)
c.1085A= (p.Glu362=)
c.1079A= (p.Glu360=)
11g.128839216_128839217delinsTCCA2008286161KCNJ1c.1027_1028delinsGA (p.Glu343=)
c.1084_1085delinsGA (p.Glu362=)
c.1078_1079delinsGA (p.Glu360=)
11g.128839217delCA2008286167KCNJ1c.1027del (p.Glu343ArgfsTer8)
c.1084del (p.Glu362ArgfsTer8)
c.1078del (p.Glu360ArgfsTer8)
11g.128839217C>ACA383242915KCNJ1c.1027G>T (p.Glu343Ter)
c.1084G>T (p.Glu362Ter)
c.1078G>T (p.Glu360Ter)
11g.128839217C=CA2008286168KCNJ1c.1027G= (p.Glu343=)
c.1084G= (p.Glu362=)
c.1078G= (p.Glu360=)
11g.128839217C>GCA383242918KCNJ1c.1027G>C (p.Glu343Gln)
c.1084G>C (p.Glu362Gln)
c.1078G>C (p.Glu360Gln)
11g.128839217C>TCA216032KCNJ1c.1027G>A (p.Glu343Lys)
c.1084G>A (p.Glu362Lys)
c.1078G>A (p.Glu360Lys)
ClinVar dbSNP gnomAD v4
11g.128839217_128839218insCAGCAGGACTTTGACA2794083159KCNJ1c.1026_1027insTCAAAGTCCTGCTG (p.Glu343SerfsTer13)
c.1083_1084insTCAAAGTCCTGCTG (p.Glu362SerfsTer13)
c.1077_1078insTCAAAGTCCTGCTG (p.Glu360SerfsTer13)
11g.128839218A=CA2008286173KCNJ1c.1026T= (p.Asn342=)
c.1083T= (p.Asn361=)
c.1077T= (p.Asn359=)
11g.128839218A>CCA6357395KCNJ1c.1026T>G (p.Asn342Lys)
c.1083T>G (p.Asn361Lys)
c.1077T>G (p.Asn359Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839218A>GCA477702730KCNJ1c.1026T>C (p.Asn342=)
c.1083T>C (p.Asn361=)
c.1077T>C (p.Asn359=)
dbSNP
11g.128839218A>TCA383242919KCNJ1c.1026T>A (p.Asn342Lys)
c.1083T>A (p.Asn361Lys)
c.1077T>A (p.Asn359Lys)
11g.128839219T>ACA383242920KCNJ1c.1025A>T (p.Asn342Ile)
c.1082A>T (p.Asn361Ile)
c.1076A>T (p.Asn359Ile)
11g.128839219T>CCA383242921KCNJ1c.1025A>G (p.Asn342Ser)
c.1082A>G (p.Asn361Ser)
c.1076A>G (p.Asn359Ser)
11g.128839219T>GCA383242922KCNJ1c.1025A>C (p.Asn342Thr)
c.1082A>C (p.Asn361Thr)
c.1076A>C (p.Asn359Thr)
11g.128839220T>ACA383242923KCNJ1c.1024A>T (p.Asn342Tyr)
c.1081A>T (p.Asn361Tyr)
c.1075A>T (p.Asn359Tyr)
11g.128839220T>CCA383242924KCNJ1c.1024A>G (p.Asn342Asp)
c.1081A>G (p.Asn361Asp)
c.1075A>G (p.Asn359Asp)
11g.128839220T>GCA383242925KCNJ1c.1024A>C (p.Asn342His)
c.1081A>C (p.Asn361His)
c.1075A>C (p.Asn359His)
11g.128839221A>CCA383242926KCNJ1c.1023T>G (p.Tyr341Ter)
c.1080T>G (p.Tyr360Ter)
c.1074T>G (p.Tyr358Ter)
11g.128839221A>GCA477702731KCNJ1c.1023T>C (p.Tyr341=)
c.1080T>C (p.Tyr360=)
c.1074T>C (p.Tyr358=)
11g.128839221A>TCA383242927KCNJ1c.1023T>A (p.Tyr341Ter)
c.1080T>A (p.Tyr360Ter)
c.1074T>A (p.Tyr358Ter)
11g.128839221_128839222insGTGGTGTTTTCA2794083160KCNJ1c.1022_1023insAAAACACCAC (p.Tyr341Ter)
c.1079_1080insAAAACACCAC (p.Tyr360Ter)
c.1073_1074insAAAACACCAC (p.Tyr358Ter)
11g.128839222T>ACA383242928KCNJ1c.1022A>T (p.Tyr341Phe)
c.1079A>T (p.Tyr360Phe)
c.1073A>T (p.Tyr358Phe)
11g.128839222T>CCA383242930KCNJ1c.1022A>G (p.Tyr341Cys)
c.1079A>G (p.Tyr360Cys)
c.1073A>G (p.Tyr358Cys)
gnomAD v4
11g.128839222T>GCA383242929KCNJ1c.1022A>C (p.Tyr341Ser)
c.1079A>C (p.Tyr360Ser)
c.1073A>C (p.Tyr358Ser)
11g.128839223A>CCA383242931KCNJ1c.1021T>G (p.Tyr341Asp)
c.1078T>G (p.Tyr360Asp)
c.1072T>G (p.Tyr358Asp)
11g.128839223A>GCA383242932KCNJ1c.1021T>C (p.Tyr341His)
c.1078T>C (p.Tyr360His)
c.1072T>C (p.Tyr358His)
gnomAD v4
11g.128839223A>TCA383242933KCNJ1c.1021T>A (p.Tyr341Asn)
c.1078T>A (p.Tyr360Asn)
c.1072T>A (p.Tyr358Asn)
11g.128839224_128839225delCA2794083161KCNJ1c.1020_1021del (p.Tyr341Ter)
c.1077_1078del (p.Tyr360Ter)
c.1071_1072del (p.Tyr358Ter)
11g.128839224A=CA2008286177KCNJ1c.1020T= (p.Leu340=)
c.1077T= (p.Leu359=)
c.1071T= (p.Leu357=)
11g.128839224A>CCA477702733KCNJ1c.1020T>G (p.Leu340=)
c.1077T>G (p.Leu359=)
c.1071T>G (p.Leu357=)
11g.128839224A>GCA6357396KCNJ1c.1020T>C (p.Leu340=)
c.1077T>C (p.Leu359=)
c.1071T>C (p.Leu357=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839224A>TCA477702732KCNJ1c.1020T>A (p.Leu340=)
c.1077T>A (p.Leu359=)
c.1071T>A (p.Leu357=)
11g.128839225A=CA2008286179KCNJ1c.1019T= (p.Leu340=)
c.1076T= (p.Leu359=)
c.1070T= (p.Leu357=)
11g.128839225A>CCA6357397KCNJ1c.1019T>G (p.Leu340Arg)
c.1076T>G (p.Leu359Arg)
c.1070T>G (p.Leu357Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839225A>GCA383242934KCNJ1c.1019T>C (p.Leu340Pro)
c.1076T>C (p.Leu359Pro)
c.1070T>C (p.Leu357Pro)
11g.128839225A>TCA383242935KCNJ1c.1019T>A (p.Leu340His)
c.1076T>A (p.Leu359His)
c.1070T>A (p.Leu357His)
11g.128839226G>ACA383242936KCNJ1c.1018C>T (p.Leu340Phe)
c.1075C>T (p.Leu359Phe)
c.1069C>T (p.Leu357Phe)
gnomAD v4
11g.128839226G>CCA6357398KCNJ1c.1018C>G (p.Leu340Val)
c.1075C>G (p.Leu359Val)
c.1069C>G (p.Leu357Val)
dbSNP ExAC gnomAD v4
11g.128839226G=CA2008286182KCNJ1c.1018C= (p.Leu340=)
c.1075C= (p.Leu359=)
c.1069C= (p.Leu357=)
11g.128839226G>TCA383242937KCNJ1c.1018C>A (p.Leu340Ile)
c.1075C>A (p.Leu359Ile)
c.1069C>A (p.Leu357Ile)
11g.128839227G>ACA6357399KCNJ1c.1017C>T (p.Cys339=)
c.1074C>T (p.Cys358=)
c.1068C>T (p.Cys356=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839227G>CCA383242938KCNJ1c.1017C>G (p.Cys339Trp)
c.1074C>G (p.Cys358Trp)
c.1068C>G (p.Cys356Trp)
11g.128839227G=CA2008286185KCNJ1c.1017C= (p.Cys339=)
c.1074C= (p.Cys358=)
c.1068C= (p.Cys356=)
11g.128839227G>TCA6357400KCNJ1c.1017C>A (p.Cys339Ter)
c.1074C>A (p.Cys358Ter)
c.1068C>A (p.Cys356Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839227_128839230delCA2794083162KCNJ1c.1014_1017del (p.Met338IlefsTer12)
c.1071_1074del (p.Met357IlefsTer12)
c.1065_1068del (p.Met355IlefsTer12)
11g.128839228C>ACA383242939KCNJ1c.1016G>T (p.Cys339Phe)
c.1073G>T (p.Cys358Phe)
c.1067G>T (p.Cys356Phe)
COSMIC
11g.128839228C>GCA383242941KCNJ1c.1016G>C (p.Cys339Ser)
c.1073G>C (p.Cys358Ser)
c.1067G>C (p.Cys356Ser)
11g.128839228C>TCA383242940KCNJ1c.1016G>A (p.Cys339Tyr)
c.1073G>A (p.Cys358Tyr)
c.1067G>A (p.Cys356Tyr)
ClinVar
11g.128839229A>CCA383242942KCNJ1c.1015T>G (p.Cys339Gly)
c.1072T>G (p.Cys358Gly)
c.1066T>G (p.Cys356Gly)
gnomAD v4
11g.128839229A>GCA383242943KCNJ1c.1015T>C (p.Cys339Arg)
c.1072T>C (p.Cys358Arg)
c.1066T>C (p.Cys356Arg)
11g.128839229A>TCA383242944KCNJ1c.1015T>A (p.Cys339Ser)
c.1072T>A (p.Cys358Ser)
c.1066T>A (p.Cys356Ser)
gnomAD v4
11g.128839230C>ACA383242945KCNJ1c.1014G>T (p.Met338Ile)
c.1071G>T (p.Met357Ile)
c.1065G>T (p.Met355Ile)
gnomAD v4
11g.128839230C=CA2008286192KCNJ1c.1014G= (p.Met338=)
c.1071G= (p.Met357=)
c.1065G= (p.Met355=)
11g.128839230C>GCA383242946KCNJ1c.1014G>C (p.Met338Ile)
c.1071G>C (p.Met357Ile)
c.1065G>C (p.Met355Ile)
11g.128839230C>TCA230627773KCNJ1c.1014G>A (p.Met338Ile)
c.1071G>A (p.Met357Ile)
c.1065G>A (p.Met355Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839231A=CA2008286196KCNJ1c.1013T= (p.Met338=)
c.1070T= (p.Met357=)
c.1064T= (p.Met355=)
11g.128839231A>CCA383242947KCNJ1c.1013T>G (p.Met338Arg)
c.1070T>G (p.Met357Arg)
c.1064T>G (p.Met355Arg)
11g.128839231A>GCA120156KCNJ1c.1013T>C (p.Met338Thr)
c.1070T>C (p.Met357Thr)
c.1064T>C (p.Met355Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839231A>TCA383242948KCNJ1c.1013T>A (p.Met338Lys)
c.1070T>A (p.Met357Lys)
c.1064T>A (p.Met355Lys)
dbSNP gnomAD v3 gnomAD v4
11g.128839232T>ACA383242949KCNJ1c.1012A>T (p.Met338Leu)
c.1069A>T (p.Met357Leu)
c.1063A>T (p.Met355Leu)
11g.128839232T>CCA383242950KCNJ1c.1012A>G (p.Met338Val)
c.1069A>G (p.Met357Val)
c.1063A>G (p.Met355Val)
gnomAD v4
11g.128839232T>GCA383242951KCNJ1c.1012A>C (p.Met338Leu)
c.1069A>C (p.Met357Leu)
c.1063A>C (p.Met355Leu)
11g.128839233G>ACA477702738KCNJ1c.1011C>T (p.Ala337=)
c.1068C>T (p.Ala356=)
c.1062C>T (p.Ala354=)
11g.128839233G>CCA6357401KCNJ1c.1011C>G (p.Ala337=)
c.1068C>G (p.Ala356=)
c.1062C>G (p.Ala354=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839233G=CA2008286200KCNJ1c.1011C= (p.Ala337=)
c.1068C= (p.Ala356=)
c.1062C= (p.Ala354=)
11g.128839233G>TCA477702739KCNJ1c.1011C>A (p.Ala337=)
c.1068C>A (p.Ala356=)
c.1062C>A (p.Ala354=)
11g.128839234G>ACA383242952KCNJ1c.1010C>T (p.Ala337Val)
c.1067C>T (p.Ala356Val)
c.1061C>T (p.Ala354Val)
gnomAD v4
11g.128839234G>CCA383242954KCNJ1c.1010C>G (p.Ala337Gly)
c.1067C>G (p.Ala356Gly)
c.1061C>G (p.Ala354Gly)
11g.128839234G=CA2008286201KCNJ1c.1010C= (p.Ala337=)
c.1067C= (p.Ala356=)
c.1061C= (p.Ala354=)
11g.128839234G>TCA383242953KCNJ1c.1010C>A (p.Ala337Asp)
c.1067C>A (p.Ala356Asp)
c.1061C>A (p.Ala354Asp)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839235C>ACA383242955KCNJ1c.1009G>T (p.Ala337Ser)
c.1066G>T (p.Ala356Ser)
c.1060G>T (p.Ala354Ser)
11g.128839235C>GCA383242956KCNJ1c.1009G>C (p.Ala337Pro)
c.1066G>C (p.Ala356Pro)
c.1060G>C (p.Ala354Pro)
11g.128839235C>TCA383242957KCNJ1c.1009G>A (p.Ala337Thr)
c.1066G>A (p.Ala356Thr)
c.1060G>A (p.Ala354Thr)
11g.128839236A>CCA383242958KCNJ1c.1008T>G (p.Cys336Trp)
c.1065T>G (p.Cys355Trp)
c.1059T>G (p.Cys353Trp)
11g.128839236A>GCA477702741KCNJ1c.1008T>C (p.Cys336=)
c.1065T>C (p.Cys355=)
c.1059T>C (p.Cys353=)
11g.128839236A>TCA383242959KCNJ1c.1008T>A (p.Cys336Ter)
c.1065T>A (p.Cys355Ter)
c.1059T>A (p.Cys353Ter)
11g.128839237C>ACA383242960KCNJ1c.1007G>T (p.Cys336Phe)
c.1064G>T (p.Cys355Phe)
c.1058G>T (p.Cys353Phe)
11g.128839237C>GCA383242961KCNJ1c.1007G>C (p.Cys336Ser)
c.1064G>C (p.Cys355Ser)
c.1058G>C (p.Cys353Ser)
11g.128839237C>TCA383242962KCNJ1c.1007G>A (p.Cys336Tyr)
c.1064G>A (p.Cys355Tyr)
c.1058G>A (p.Cys353Tyr)
11g.128839238A>CCA383242963KCNJ1c.1006T>G (p.Cys336Gly)
c.1063T>G (p.Cys355Gly)
c.1057T>G (p.Cys353Gly)
11g.128839238A>GCA383242964KCNJ1c.1006T>C (p.Cys336Arg)
c.1063T>C (p.Cys355Arg)
c.1057T>C (p.Cys353Arg)
11g.128839238A>TCA383242965KCNJ1c.1006T>A (p.Cys336Ser)
c.1063T>A (p.Cys355Ser)
c.1057T>A (p.Cys353Ser)
11g.128839239G>ACA477702742KCNJ1c.1005C>T (p.His335=)
c.1062C>T (p.His354=)
c.1056C>T (p.His352=)
11g.128839239G>CCA383242967KCNJ1c.1005C>G (p.His335Gln)
c.1062C>G (p.His354Gln)
c.1056C>G (p.His352Gln)
11g.128839239G>TCA383242966KCNJ1c.1005C>A (p.His335Gln)
c.1062C>A (p.His354Gln)
c.1056C>A (p.His352Gln)
gnomAD v4
11g.128839240T>ACA383242968KCNJ1c.1004A>T (p.His335Leu)
c.1061A>T (p.His354Leu)
c.1055A>T (p.His352Leu)
11g.128839240T>CCA383242969KCNJ1c.1004A>G (p.His335Arg)
c.1061A>G (p.His354Arg)
c.1055A>G (p.His352Arg)
11g.128839240T>GCA383242970KCNJ1c.1004A>C (p.His335Pro)
c.1061A>C (p.His354Pro)
c.1055A>C (p.His352Pro)
11g.128839241G>ACA383242971KCNJ1c.1003C>T (p.His335Tyr)
c.1060C>T (p.His354Tyr)
c.1054C>T (p.His352Tyr)
11g.128839241G>CCA383242972KCNJ1c.1003C>G (p.His335Asp)
c.1060C>G (p.His354Asp)
c.1054C>G (p.His352Asp)
11g.128839241G>TCA383242973KCNJ1c.1003C>A (p.His335Asn)
c.1060C>A (p.His354Asn)
c.1054C>A (p.His352Asn)
11g.128839242A>CCA477702743KCNJ1c.1002T>G (p.Pro334=)
c.1059T>G (p.Pro353=)
c.1053T>G (p.Pro351=)
11g.128839242A>GCA477702744KCNJ1c.1002T>C (p.Pro334=)
c.1059T>C (p.Pro353=)
c.1053T>C (p.Pro351=)
11g.128839242A>TCA477702745KCNJ1c.1002T>A (p.Pro334=)
c.1059T>A (p.Pro353=)
c.1053T>A (p.Pro351=)
11g.128839242_128839243delinsAGCA2008286203KCNJ1c.1001_1002delinsCT (p.Pro334=)
c.1058_1059delinsCT (p.Pro353=)
c.1052_1053delinsCT (p.Pro351=)
11g.128839243G>ACA383242974KCNJ1c.1001C>T (p.Pro334Leu)
c.1058C>T (p.Pro353Leu)
c.1052C>T (p.Pro351Leu)
COSMIC
11g.128839243G>CCA383242975KCNJ1c.1001C>G (p.Pro334Arg)
c.1058C>G (p.Pro353Arg)
c.1052C>G (p.Pro351Arg)
11g.128839243G>TCA383242976KCNJ1c.1001C>A (p.Pro334His)
c.1058C>A (p.Pro353His)
c.1052C>A (p.Pro351His)
11g.128839246dupCA6357402KCNJ1c.1001dup (p.His335SerfsTer8)
c.1058dup (p.His354SerfsTer8)
c.1052dup (p.His352SerfsTer8)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839246delCA673265905KCNJ1c.1001del (p.Pro334LeufsTer17)
c.1058del (p.Pro353LeufsTer17)
c.1052del (p.Pro351LeufsTer17)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.128839244G>ACA383242977KCNJ1c.1000C>T (p.Pro334Ser)
c.1057C>T (p.Pro353Ser)
c.1051C>T (p.Pro351Ser)
ClinVar dbSNP COSMIC
11g.128839244G>CCA383242978KCNJ1c.1000C>G (p.Pro334Ala)
c.1057C>G (p.Pro353Ala)
c.1051C>G (p.Pro351Ala)
11g.128839244G=CA2008286208KCNJ1c.1000C= (p.Pro334=)
c.1057C= (p.Pro353=)
c.1051C= (p.Pro351=)
11g.128839244G>TCA383242979KCNJ1c.1000C>A (p.Pro334Thr)
c.1057C>A (p.Pro353Thr)
c.1051C>A (p.Pro351Thr)
11g.128839245G>ACA477702750KCNJ1c.999C>T (p.Thr333=)
c.1056C>T (p.Thr352=)
c.1050C>T (p.Thr350=)
gnomAD v4
11g.128839245G>CCA477702751KCNJ1c.999C>G (p.Thr333=)
c.1056C>G (p.Thr352=)
c.1050C>G (p.Thr350=)
11g.128839245G=CA2008286212KCNJ1c.999C= (p.Thr333=)
c.1056C= (p.Thr352=)
c.1050C= (p.Thr350=)
11g.128839245G>TCA230627778KCNJ1c.999C>A (p.Thr333=)
c.1056C>A (p.Thr352=)
c.1050C>A (p.Thr350=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839246G>ACA383242982KCNJ1c.998C>T (p.Thr333Ile)
c.1055C>T (p.Thr352Ile)
c.1049C>T (p.Thr350Ile)
gnomAD v4
11g.128839246G>CCA383242981KCNJ1c.998C>G (p.Thr333Ser)
c.1055C>G (p.Thr352Ser)
c.1049C>G (p.Thr350Ser)
11g.128839246G>TCA383242980KCNJ1c.998C>A (p.Thr333Asn)
c.1055C>A (p.Thr352Asn)
c.1049C>A (p.Thr350Asn)
11g.128839247T>ACA383242983KCNJ1c.997A>T (p.Thr333Ser)
c.1054A>T (p.Thr352Ser)
c.1048A>T (p.Thr350Ser)
dbSNP gnomAD v3 gnomAD v4
11g.128839247T>CCA383242984KCNJ1c.997A>G (p.Thr333Ala)
c.1054A>G (p.Thr352Ala)
c.1048A>G (p.Thr350Ala)
11g.128839247T>GCA383242985KCNJ1c.997A>C (p.Thr333Pro)
c.1054A>C (p.Thr352Pro)
c.1048A>C (p.Thr350Pro)
11g.128839247T=CA2008286216KCNJ1c.997A= (p.Thr333=)
c.1054A= (p.Thr352=)
c.1048A= (p.Thr350=)
11g.128839248C>ACA383242986KCNJ1c.996G>T (p.Glu332Asp)
c.1053G>T (p.Glu351Asp)
c.1047G>T (p.Glu349Asp)
11g.128839248C>GCA383242987KCNJ1c.996G>C (p.Glu332Asp)
c.1053G>C (p.Glu351Asp)
c.1047G>C (p.Glu349Asp)
11g.128839248C>TCA477702753KCNJ1c.996G>A (p.Glu332=)
c.1053G>A (p.Glu351=)
c.1047G>A (p.Glu349=)
ClinVar
11g.128839249T>ACA383242988KCNJ1c.995A>T (p.Glu332Val)
c.1052A>T (p.Glu351Val)
c.1046A>T (p.Glu349Val)
gnomAD v4
11g.128839249T>CCA383242989KCNJ1c.995A>G (p.Glu332Gly)
c.1052A>G (p.Glu351Gly)
c.1046A>G (p.Glu349Gly)
11g.128839249T>GCA383242990KCNJ1c.995A>C (p.Glu332Ala)
c.1052A>C (p.Glu351Ala)
c.1046A>C (p.Glu349Ala)
dbSNP gnomAD v2
11g.128839249T=CA2008286220KCNJ1c.995A= (p.Glu332=)
c.1052A= (p.Glu351=)
c.1046A= (p.Glu349=)
11g.128839250C>ACA383242991KCNJ1c.994G>T (p.Glu332Ter)
c.1051G>T (p.Glu351Ter)
c.1045G>T (p.Glu349Ter)
11g.128839250C>GCA383242992KCNJ1c.994G>C (p.Glu332Gln)
c.1051G>C (p.Glu351Gln)
c.1045G>C (p.Glu349Gln)
11g.128839250C>TCA383242993KCNJ1c.994G>A (p.Glu332Lys)
c.1051G>A (p.Glu351Lys)
c.1045G>A (p.Glu349Lys)
gnomAD v4
11g.128839251C>ACA477702755KCNJ1c.993G>T (p.Val331=)
c.1050G>T (p.Val350=)
c.1044G>T (p.Val348=)
11g.128839251C>GCA477702759KCNJ1c.993G>C (p.Val331=)
c.1050G>C (p.Val350=)
c.1044G>C (p.Val348=)
11g.128839251C>TCA477702757KCNJ1c.993G>A (p.Val331=)
c.1050G>A (p.Val350=)
c.1044G>A (p.Val348=)
11g.128839252A>CCA383242994KCNJ1c.992T>G (p.Val331Gly)
c.1049T>G (p.Val350Gly)
c.1043T>G (p.Val348Gly)
11g.128839252A>GCA383242996KCNJ1c.992T>C (p.Val331Ala)
c.1049T>C (p.Val350Ala)
c.1043T>C (p.Val348Ala)
11g.128839252A>TCA383242997KCNJ1c.992T>A (p.Val331Glu)
c.1049T>A (p.Val350Glu)
c.1043T>A (p.Val348Glu)
11g.128839253C>ACA383243000KCNJ1c.991G>T (p.Val331Leu)
c.1048G>T (p.Val350Leu)
c.1042G>T (p.Val348Leu)
11g.128839253C=CA2008286224KCNJ1c.991G= (p.Val331=)
c.1048G= (p.Val350=)
c.1042G= (p.Val348=)
11g.128839253C>GCA383243002KCNJ1c.991G>C (p.Val331Leu)
c.1048G>C (p.Val350Leu)
c.1042G>C (p.Val348Leu)
11g.128839253C>TCA383242999KCNJ1c.991G>A (p.Val331Met)
c.1048G>A (p.Val350Met)
c.1042G>A (p.Val348Met)
dbSNP gnomAD v3 gnomAD v4
11g.128839254T>ACA383243004KCNJ1c.990A>T (p.Glu330Asp)
c.1047A>T (p.Glu349Asp)
c.1041A>T (p.Glu347Asp)
11g.128839254T>CCA477702760KCNJ1c.990A>G (p.Glu330=)
c.1047A>G (p.Glu349=)
c.1041A>G (p.Glu347=)
dbSNP gnomAD v2 gnomAD v4
11g.128839254T>GCA383243006KCNJ1c.990A>C (p.Glu330Asp)
c.1047A>C (p.Glu349Asp)
c.1041A>C (p.Glu347Asp)
11g.128839254T=CA2008286227KCNJ1c.990A= (p.Glu330=)
c.1047A= (p.Glu349=)
c.1041A= (p.Glu347=)
11g.128839255T>ACA383243008KCNJ1c.989A>T (p.Glu330Val)
c.1046A>T (p.Glu349Val)
c.1040A>T (p.Glu347Val)
11g.128839255T>CCA383243009KCNJ1c.989A>G (p.Glu330Gly)
c.1046A>G (p.Glu349Gly)
c.1040A>G (p.Glu347Gly)
11g.128839255T>GCA383243010KCNJ1c.989A>C (p.Glu330Ala)
c.1046A>C (p.Glu349Ala)
c.1040A>C (p.Glu347Ala)
11g.128839256C>ACA383243011KCNJ1c.988G>T (p.Glu330Ter)
c.1045G>T (p.Glu349Ter)
c.1039G>T (p.Glu347Ter)
11g.128839256C>GCA383243012KCNJ1c.988G>C (p.Glu330Gln)
c.1045G>C (p.Glu349Gln)
c.1039G>C (p.Glu347Gln)
11g.128839256C>TCA383243014KCNJ1c.988G>A (p.Glu330Lys)
c.1045G>A (p.Glu349Lys)
c.1039G>A (p.Glu347Lys)
11g.128839257C>ACA477702764KCNJ1c.987G>T (p.Val329=)
c.1044G>T (p.Val348=)
c.1038G>T (p.Val346=)
11g.128839257C>GCA477702765KCNJ1c.987G>C (p.Val329=)
c.1044G>C (p.Val348=)
c.1038G>C (p.Val346=)
11g.128839257C>TCA477702766KCNJ1c.987G>A (p.Val329=)
c.1044G>A (p.Val348=)
c.1038G>A (p.Val346=)
gnomAD v4
11g.128839258A>CCA383243016KCNJ1c.986T>G (p.Val329Gly)
c.1043T>G (p.Val348Gly)
c.1037T>G (p.Val346Gly)
11g.128839258A>GCA383243018KCNJ1c.986T>C (p.Val329Ala)
c.1043T>C (p.Val348Ala)
c.1037T>C (p.Val346Ala)
11g.128839258A>TCA383243020KCNJ1c.986T>A (p.Val329Glu)
c.1043T>A (p.Val348Glu)
c.1037T>A (p.Val346Glu)
11g.128839259C>ACA383243025KCNJ1c.985G>T (p.Val329Leu)
c.1042G>T (p.Val348Leu)
c.1036G>T (p.Val346Leu)
11g.128839259C=CA2008286228KCNJ1c.985G= (p.Val329=)
c.1042G= (p.Val348=)
c.1036G= (p.Val346=)
11g.128839259C>GCA383243027KCNJ1c.985G>C (p.Val329Leu)
c.1042G>C (p.Val348Leu)
c.1036G>C (p.Val346Leu)
11g.128839259C>TCA383243029KCNJ1c.985G>A (p.Val329Met)
c.1042G>A (p.Val348Met)
c.1036G>A (p.Val346Met)
dbSNP gnomAD v4
11g.128839260T>ACA477702770KCNJ1c.984A>T (p.Thr328=)
c.1041A>T (p.Thr347=)
c.1035A>T (p.Thr345=)
11g.128839260T>CCA477702771KCNJ1c.984A>G (p.Thr328=)
c.1041A>G (p.Thr347=)
c.1035A>G (p.Thr345=)
11g.128839260T>GCA477702772KCNJ1c.984A>C (p.Thr328=)
c.1041A>C (p.Thr347=)
c.1035A>C (p.Thr345=)
11g.128839261delCA2575025047KCNJ1c.983del (p.Thr328LysfsTer23)
c.1040del (p.Thr347LysfsTer23)
c.1034del (p.Thr345LysfsTer23)
gnomAD v4
11g.128839261G>ACA383243035KCNJ1c.983C>T (p.Thr328Ile)
c.1040C>T (p.Thr347Ile)
c.1034C>T (p.Thr345Ile)
COSMIC
11g.128839261G>CCA383243031KCNJ1c.983C>G (p.Thr328Arg)
c.1040C>G (p.Thr347Arg)
c.1034C>G (p.Thr345Arg)
dbSNP gnomAD v3 gnomAD v4
11g.128839261G=CA2008286232KCNJ1c.983C= (p.Thr328=)
c.1040C= (p.Thr347=)
c.1034C= (p.Thr345=)
11g.128839261G>TCA383243032KCNJ1c.983C>A (p.Thr328Lys)
c.1040C>A (p.Thr347Lys)
c.1034C>A (p.Thr345Lys)
11g.128839262T>ACA383243037KCNJ1c.982A>T (p.Thr328Ser)
c.1039A>T (p.Thr347Ser)
c.1033A>T (p.Thr345Ser)
11g.128839262T>CCA6357403KCNJ1c.982A>G (p.Thr328Ala)
c.1039A>G (p.Thr347Ala)
c.1033A>G (p.Thr345Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839262T>GCA383243040KCNJ1c.982A>C (p.Thr328Pro)
c.1039A>C (p.Thr347Pro)
c.1033A>C (p.Thr345Pro)
11g.128839262T=CA2008286234KCNJ1c.982A= (p.Thr328=)
c.1039A= (p.Thr347=)
c.1033A= (p.Thr345=)
11g.128839263C>ACA383243041KCNJ1c.981G>T (p.Lys327Asn)
c.1038G>T (p.Lys346Asn)
c.1032G>T (p.Lys344Asn)
11g.128839263C=CA2008286236KCNJ1c.981G= (p.Lys327=)
c.1038G= (p.Lys346=)
c.1032G= (p.Lys344=)
11g.128839263C>GCA230627782KCNJ1c.981G>C (p.Lys327Asn)
c.1038G>C (p.Lys346Asn)
c.1032G>C (p.Lys344Asn)
dbSNP gnomAD v3 gnomAD v4
11g.128839263C>TCA477702774KCNJ1c.981G>A (p.Lys327=)
c.1038G>A (p.Lys346=)
c.1032G>A (p.Lys344=)
11g.128839264T>ACA383243044KCNJ1c.980A>T (p.Lys327Met)
c.1037A>T (p.Lys346Met)
c.1031A>T (p.Lys344Met)
11g.128839264T>CCA383243045KCNJ1c.980A>G (p.Lys327Arg)
c.1037A>G (p.Lys346Arg)
c.1031A>G (p.Lys344Arg)
11g.128839264T>GCA383243047KCNJ1c.980A>C (p.Lys327Thr)
c.1037A>C (p.Lys346Thr)
c.1031A>C (p.Lys344Thr)
11g.128839265T>ACA383243050KCNJ1c.979A>T (p.Lys327Ter)
c.1036A>T (p.Lys346Ter)
c.1030A>T (p.Lys344Ter)
11g.128839265T>CCA383243051KCNJ1c.979A>G (p.Lys327Glu)
c.1036A>G (p.Lys346Glu)
c.1030A>G (p.Lys344Glu)
COSMIC
11g.128839265T>GCA383243053KCNJ1c.979A>C (p.Lys327Gln)
c.1036A>C (p.Lys346Gln)
c.1030A>C (p.Lys344Gln)
11g.128839266G>ACA477702778KCNJ1c.978C>T (p.Ser326=)
c.1035C>T (p.Ser345=)
c.1029C>T (p.Ser343=)
ClinVar dbSNP
11g.128839266G>CCA383243057KCNJ1c.978C>G (p.Ser326Arg)
c.1035C>G (p.Ser345Arg)
c.1029C>G (p.Ser343Arg)
dbSNP gnomAD v3 gnomAD v4
11g.128839266G=CA2008286239KCNJ1c.978C= (p.Ser326=)
c.1035C= (p.Ser345=)
c.1029C= (p.Ser343=)
11g.128839266G>TCA383243055KCNJ1c.978C>A (p.Ser326Arg)
c.1035C>A (p.Ser345Arg)
c.1029C>A (p.Ser343Arg)
gnomAD v4
11g.128839267C>ACA383243059KCNJ1c.977G>T (p.Ser326Ile)
c.1034G>T (p.Ser345Ile)
c.1028G>T (p.Ser343Ile)
11g.128839267C=CA2008286243KCNJ1c.977G= (p.Ser326=)
c.1034G= (p.Ser345=)
c.1028G= (p.Ser343=)
11g.128839267C>GCA383243061KCNJ1c.977G>C (p.Ser326Thr)
c.1034G>C (p.Ser345Thr)
c.1028G>C (p.Ser343Thr)
11g.128839267C>TCA6357404KCNJ1c.977G>A (p.Ser326Asn)
c.1034G>A (p.Ser345Asn)
c.1028G>A (p.Ser343Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839268T>ACA383243064KCNJ1c.976A>T (p.Ser326Cys)
c.1033A>T (p.Ser345Cys)
c.1027A>T (p.Ser343Cys)
11g.128839268T>CCA383243066KCNJ1c.976A>G (p.Ser326Gly)
c.1033A>G (p.Ser345Gly)
c.1027A>G (p.Ser343Gly)
11g.128839268T>GCA383243068KCNJ1c.976A>C (p.Ser326Arg)
c.1033A>C (p.Ser345Arg)
c.1027A>C (p.Ser343Arg)
11g.128839268_128839269delinsTACA2008286246KCNJ1c.975_976delinsTA (p.Phe325=)
c.1032_1033delinsTA (p.Phe344=)
c.1026_1027delinsTA (p.Phe342=)
11g.128839269A=CA2008286251KCNJ1c.975T= (p.Phe325=)
c.1032T= (p.Phe344=)
c.1026T= (p.Phe342=)
11g.128839269A>CCA383243070KCNJ1c.975T>G (p.Phe325Leu)
c.1032T>G (p.Phe344Leu)
c.1026T>G (p.Phe342Leu)
11g.128839269A>GCA6357405KCNJ1c.975T>C (p.Phe325=)
c.1032T>C (p.Phe344=)
c.1026T>C (p.Phe342=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839269A>TCA383243073KCNJ1c.975T>A (p.Phe325Leu)
c.1032T>A (p.Phe344Leu)
c.1026T>A (p.Phe342Leu)
11g.128839271delCA2008286249KCNJ1c.975del (p.Phe325LeufsTer26)
c.1032del (p.Phe344LeufsTer26)
c.1026del (p.Phe342LeufsTer26)
dbSNP
11g.128839270A>CCA383243075KCNJ1c.974T>G (p.Phe325Cys)
c.1031T>G (p.Phe344Cys)
c.1025T>G (p.Phe342Cys)
11g.128839270A>GCA383243077KCNJ1c.974T>C (p.Phe325Ser)
c.1031T>C (p.Phe344Ser)
c.1025T>C (p.Phe342Ser)
11g.128839270A>TCA383243079KCNJ1c.974T>A (p.Phe325Tyr)
c.1031T>A (p.Phe344Tyr)
c.1025T>A (p.Phe342Tyr)
11g.128839271A=CA2008286256KCNJ1c.973T= (p.Phe325=)
c.1030T= (p.Phe344=)
c.1024T= (p.Phe342=)
11g.128839271A>CCA6357406KCNJ1c.973T>G (p.Phe325Val)
c.1030T>G (p.Phe344Val)
c.1024T>G (p.Phe342Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839271A>GCA383243084KCNJ1c.973T>C (p.Phe325Leu)
c.1030T>C (p.Phe344Leu)
c.1024T>C (p.Phe342Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839271A>TCA383243081KCNJ1c.973T>A (p.Phe325Ile)
c.1030T>A (p.Phe344Ile)
c.1024T>A (p.Phe342Ile)
11g.128839272G>ACA6357407KCNJ1c.972C>T (p.Asn324=)
c.1029C>T (p.Asn343=)
c.1023C>T (p.Asn341=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839272G>CCA383243087KCNJ1c.972C>G (p.Asn324Lys)
c.1029C>G (p.Asn343Lys)
c.1023C>G (p.Asn341Lys)
11g.128839272G=CA2008286260KCNJ1c.972C= (p.Asn324=)
c.1029C= (p.Asn343=)
c.1023C= (p.Asn341=)
11g.128839272G>TCA383243089KCNJ1c.972C>A (p.Asn324Lys)
c.1029C>A (p.Asn343Lys)
c.1023C>A (p.Asn341Lys)
dbSNP gnomAD v3 gnomAD v4
11g.128839273T>ACA383243091KCNJ1c.971A>T (p.Asn324Ile)
c.1028A>T (p.Asn343Ile)
c.1022A>T (p.Asn341Ile)
11g.128839273T>CCA383243093KCNJ1c.971A>G (p.Asn324Ser)
c.1028A>G (p.Asn343Ser)
c.1022A>G (p.Asn341Ser)
gnomAD v4
11g.128839273T>GCA383243094KCNJ1c.971A>C (p.Asn324Thr)
c.1028A>C (p.Asn343Thr)
c.1022A>C (p.Asn341Thr)
11g.128839274T>ACA383243096KCNJ1c.970A>T (p.Asn324Tyr)
c.1027A>T (p.Asn343Tyr)
c.1021A>T (p.Asn341Tyr)
11g.128839274T>CCA383243098KCNJ1c.970A>G (p.Asn324Asp)
c.1027A>G (p.Asn343Asp)
c.1021A>G (p.Asn341Asp)
11g.128839274T>GCA383243097KCNJ1c.970A>C (p.Asn324His)
c.1027A>C (p.Asn343His)
c.1021A>C (p.Asn341His)
dbSNP gnomAD v2 gnomAD v4
11g.128839274T=CA2008286261KCNJ1c.970A= (p.Asn324=)
c.1027A= (p.Asn343=)
c.1021A= (p.Asn341=)
11g.128839275A>CCA383243101KCNJ1c.969T>G (p.His323Gln)
c.1026T>G (p.His342Gln)
c.1020T>G (p.His340Gln)
11g.128839275A>GCA477702862KCNJ1c.969T>C (p.His323=)
c.1026T>C (p.His342=)
c.1020T>C (p.His340=)
11g.128839275A>TCA383243102KCNJ1c.969T>A (p.His323Gln)
c.1026T>A (p.His342Gln)
c.1020T>A (p.His340Gln)
11g.128839276T>ACA383243105KCNJ1c.968A>T (p.His323Leu)
c.1025A>T (p.His342Leu)
c.1019A>T (p.His340Leu)
11g.128839276T>CCA383243106KCNJ1c.968A>G (p.His323Arg)
c.1025A>G (p.His342Arg)
c.1019A>G (p.His340Arg)
11g.128839276T>GCA383243107KCNJ1c.968A>C (p.His323Pro)
c.1025A>C (p.His342Pro)
c.1019A>C (p.His340Pro)
11g.128839277G>ACA6357408KCNJ1c.967C>T (p.His323Tyr)
c.1024C>T (p.His342Tyr)
c.1018C>T (p.His340Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.128839277G>CCA383243111KCNJ1c.967C>G (p.His323Asp)
c.1024C>G (p.His342Asp)
c.1018C>G (p.His340Asp)
11g.128839277G=CA2008286263KCNJ1c.967C= (p.His323=)
c.1024C= (p.His342=)
c.1018C= (p.His340=)
11g.128839277G>TCA383243108KCNJ1c.967C>A (p.His323Asn)
c.1024C>A (p.His342Asn)
c.1018C>A (p.His340Asn)
11g.128839278G>ACA6357409KCNJ1c.966C>T (p.Phe322=)
c.1023C>T (p.Phe341=)
c.1017C>T (p.Phe339=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839278G>CCA383243113KCNJ1c.966C>G (p.Phe322Leu)
c.1023C>G (p.Phe341Leu)
c.1017C>G (p.Phe339Leu)
11g.128839278G=CA2008286266KCNJ1c.966C= (p.Phe322=)
c.1023C= (p.Phe341=)
c.1017C= (p.Phe339=)
11g.128839278G>TCA383243115KCNJ1c.966C>A (p.Phe322Leu)
c.1023C>A (p.Phe341Leu)
c.1017C>A (p.Phe339Leu)
COSMIC
11g.128839279A>CCA383243118KCNJ1c.965T>G (p.Phe322Cys)
c.1022T>G (p.Phe341Cys)
c.1016T>G (p.Phe339Cys)
11g.128839279A>GCA383243120KCNJ1c.965T>C (p.Phe322Ser)
c.1022T>C (p.Phe341Ser)
c.1016T>C (p.Phe339Ser)
11g.128839279A>TCA383243122KCNJ1c.965T>A (p.Phe322Tyr)
c.1022T>A (p.Phe341Tyr)
c.1016T>A (p.Phe339Tyr)
11g.128839280A>CCA383243124KCNJ1c.964T>G (p.Phe322Val)
c.1021T>G (p.Phe341Val)
c.1015T>G (p.Phe339Val)
11g.128839280A>GCA383243126KCNJ1c.964T>C (p.Phe322Leu)
c.1021T>C (p.Phe341Leu)
c.1015T>C (p.Phe339Leu)
11g.128839280A>TCA383243128KCNJ1c.964T>A (p.Phe322Ile)
c.1021T>A (p.Phe341Ile)
c.1015T>A (p.Phe339Ile)
11g.128839281A>CCA383243129KCNJ1c.963T>G (p.Asp321Glu)
c.1020T>G (p.Asp340Glu)
c.1014T>G (p.Asp338Glu)
11g.128839281A>GCA477702868KCNJ1c.963T>C (p.Asp321=)
c.1020T>C (p.Asp340=)
c.1014T>C (p.Asp338=)
11g.128839281A>TCA383243130KCNJ1c.963T>A (p.Asp321Glu)
c.1020T>A (p.Asp340Glu)
c.1014T>A (p.Asp338Glu)
11g.128839282T>ACA383243133KCNJ1c.962A>T (p.Asp321Val)
c.1019A>T (p.Asp340Val)
c.1013A>T (p.Asp338Val)
11g.128839282T>CCA383243135KCNJ1c.962A>G (p.Asp321Gly)
c.1019A>G (p.Asp340Gly)
c.1013A>G (p.Asp338Gly)
dbSNP gnomAD v2 gnomAD v4
11g.128839282T>GCA383243136KCNJ1c.962A>C (p.Asp321Ala)
c.1019A>C (p.Asp340Ala)
c.1013A>C (p.Asp338Ala)
11g.128839282T=CA2008286269KCNJ1c.962A= (p.Asp321=)
c.1019A= (p.Asp340=)
c.1013A= (p.Asp338=)
11g.128839283C>ACA383243139KCNJ1c.961G>T (p.Asp321Tyr)
c.1018G>T (p.Asp340Tyr)
c.1012G>T (p.Asp338Tyr)
11g.128839283C>GCA383243141KCNJ1c.961G>C (p.Asp321His)
c.1018G>C (p.Asp340His)
c.1012G>C (p.Asp338His)
11g.128839283C>TCA383243142KCNJ1c.961G>A (p.Asp321Asn)
c.1018G>A (p.Asp340Asn)
c.1012G>A (p.Asp338Asn)
11g.128839284C>ACA477702872KCNJ1c.960G>T (p.Val320=)
c.1017G>T (p.Val339=)
c.1011G>T (p.Val337=)
11g.128839284C>GCA477702873KCNJ1c.960G>C (p.Val320=)
c.1017G>C (p.Val339=)
c.1011G>C (p.Val337=)
11g.128839284C>TCA477702874KCNJ1c.960G>A (p.Val320=)
c.1017G>A (p.Val339=)
c.1011G>A (p.Val337=)
gnomAD v4
11g.128839285A>CCA383243144KCNJ1c.959T>G (p.Val320Gly)
c.1016T>G (p.Val339Gly)
c.1010T>G (p.Val337Gly)
11g.128839285A>GCA383243147KCNJ1c.959T>C (p.Val320Ala)
c.1016T>C (p.Val339Ala)
c.1010T>C (p.Val337Ala)
11g.128839285A>TCA383243145KCNJ1c.959T>A (p.Val320Glu)
c.1016T>A (p.Val339Glu)
c.1010T>A (p.Val337Glu)
11g.128839286C>ACA383243149KCNJ1c.958G>T (p.Val320Leu)
c.1015G>T (p.Val339Leu)
c.1009G>T (p.Val337Leu)
11g.128839286C>GCA383243150KCNJ1c.958G>C (p.Val320Leu)
c.1015G>C (p.Val339Leu)
c.1009G>C (p.Val337Leu)
11g.128839286C>TCA383243152KCNJ1c.958G>A (p.Val320Met)
c.1015G>A (p.Val339Met)
c.1009G>A (p.Val337Met)
11g.128839287T>ACA477702880KCNJ1c.957A>T (p.Arg319=)
c.1014A>T (p.Arg338=)
c.1008A>T (p.Arg336=)
11g.128839287T>CCA477702882KCNJ1c.957A>G (p.Arg319=)
c.1014A>G (p.Arg338=)
c.1008A>G (p.Arg336=)
11g.128839287T>GCA477702878KCNJ1c.957A>C (p.Arg319=)
c.1014A>C (p.Arg338=)
c.1008A>C (p.Arg336=)
11g.128839288C>ACA383243154KCNJ1c.956G>T (p.Arg319Leu)
c.1013G>T (p.Arg338Leu)
c.1007G>T (p.Arg336Leu)
11g.128839288C=CA2008286273KCNJ1c.956G= (p.Arg319=)
c.1013G= (p.Arg338=)
c.1007G= (p.Arg336=)
11g.128839288C>GCA383243156KCNJ1c.956G>C (p.Arg319Pro)
c.1013G>C (p.Arg338Pro)
c.1007G>C (p.Arg336Pro)
11g.128839288C>TCA6357410KCNJ1c.956G>A (p.Arg319Gln)
c.1013G>A (p.Arg338Gln)
c.1007G>A (p.Arg336Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839289G>ACA6357411KCNJ1c.955C>T (p.Arg319Ter)
c.1012C>T (p.Arg338Ter)
c.1006C>T (p.Arg336Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839289G>CCA383243159KCNJ1c.955C>G (p.Arg319Gly)
c.1012C>G (p.Arg338Gly)
c.1006C>G (p.Arg336Gly)
11g.128839289G=CA2008286278KCNJ1c.955C= (p.Arg319=)
c.1012C= (p.Arg338=)
c.1006C= (p.Arg336=)
11g.128839289G>TCA477702885KCNJ1c.955C>A (p.Arg319=)
c.1012C>A (p.Arg338=)
c.1006C>A (p.Arg336=)
gnomAD v4
11g.128839290G>ACA477702886KCNJ1c.954C>T (p.Tyr318=)
c.1011C>T (p.Tyr337=)
c.1005C>T (p.Tyr335=)
ClinVar dbSNP
11g.128839290G>CCA383243161KCNJ1c.954C>G (p.Tyr318Ter)
c.1011C>G (p.Tyr337Ter)
c.1005C>G (p.Tyr335Ter)
11g.128839290G=CA2008286284KCNJ1c.954C= (p.Tyr318=)
c.1011C= (p.Tyr337=)
c.1005C= (p.Tyr335=)
11g.128839290G>TCA383243163KCNJ1c.954C>A (p.Tyr318Ter)
c.1011C>A (p.Tyr337Ter)
c.1005C>A (p.Tyr335Ter)
dbSNP gnomAD v2
11g.128839291T>ACA383243165KCNJ1c.953A>T (p.Tyr318Phe)
c.1010A>T (p.Tyr337Phe)
c.1004A>T (p.Tyr335Phe)
11g.128839291T>CCA6357412KCNJ1c.953A>G (p.Tyr318Cys)
c.1010A>G (p.Tyr337Cys)
c.1004A>G (p.Tyr335Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839291T>GCA383243167KCNJ1c.953A>C (p.Tyr318Ser)
c.1010A>C (p.Tyr337Ser)
c.1004A>C (p.Tyr335Ser)
11g.128839291T=CA2008286287KCNJ1c.953A= (p.Tyr318=)
c.1010A= (p.Tyr337=)
c.1004A= (p.Tyr335=)
11g.128839292A=CA2008286291KCNJ1c.952T= (p.Tyr318=)
c.1009T= (p.Tyr337=)
c.1003T= (p.Tyr335=)
11g.128839292A>CCA383243170KCNJ1c.952T>G (p.Tyr318Asp)
c.1009T>G (p.Tyr337Asp)
c.1003T>G (p.Tyr335Asp)
11g.128839292A>GCA383243173KCNJ1c.952T>C (p.Tyr318His)
c.1009T>C (p.Tyr337His)
c.1003T>C (p.Tyr335His)
gnomAD v4
11g.128839292A>TCA383243171KCNJ1c.952T>A (p.Tyr318Asn)
c.1009T>A (p.Tyr337Asn)
c.1003T>A (p.Tyr335Asn)
dbSNP
11g.128839293T>ACA383243174KCNJ1c.951A>T (p.Lys317Asn)
c.1008A>T (p.Lys336Asn)
c.1002A>T (p.Lys334Asn)
11g.128839293T>CCA477702893KCNJ1c.951A>G (p.Lys317=)
c.1008A>G (p.Lys336=)
c.1002A>G (p.Lys334=)
11g.128839293T>GCA383243175KCNJ1c.951A>C (p.Lys317Asn)
c.1008A>C (p.Lys336Asn)
c.1002A>C (p.Lys334Asn)
gnomAD v4
11g.128839294T>ACA383243177KCNJ1c.950A>T (p.Lys317Ile)
c.1007A>T (p.Lys336Ile)
c.1001A>T (p.Lys334Ile)
11g.128839294T>CCA383243179KCNJ1c.950A>G (p.Lys317Arg)
c.1007A>G (p.Lys336Arg)
c.1001A>G (p.Lys334Arg)
11g.128839294T>GCA383243181KCNJ1c.950A>C (p.Lys317Thr)
c.1007A>C (p.Lys336Thr)
c.1001A>C (p.Lys334Thr)
11g.128839295T>ACA383243183KCNJ1c.949A>T (p.Lys317Ter)
c.1006A>T (p.Lys336Ter)
c.1000A>T (p.Lys334Ter)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.128839295T>CCA6357413KCNJ1c.949A>G (p.Lys317Glu)
c.1006A>G (p.Lys336Glu)
c.1000A>G (p.Lys334Glu)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.128839295T>GCA383243186KCNJ1c.949A>C (p.Lys317Gln)
c.1006A>C (p.Lys336Gln)
c.1000A>C (p.Lys334Gln)
11g.128839295T=CA2008286292KCNJ1c.949A= (p.Lys317=)
c.1006A= (p.Lys336=)
c.1000A= (p.Lys334=)
11g.128839296_128839299delCA2616771375KCNJ1c.946_949del (p.Gly316AsnfsTer?)
c.1003_1006del (p.Gly335AsnfsTer?)
c.997_1000del (p.Gly333AsnfsTer?)
gnomAD v4
11g.128839296C>ACA477702897KCNJ1c.948G>T (p.Gly316=)
c.1005G>T (p.Gly335=)
c.999G>T (p.Gly333=)
11g.128839296C>GCA477702898KCNJ1c.948G>C (p.Gly316=)
c.1005G>C (p.Gly335=)
c.999G>C (p.Gly333=)
COSMIC
11g.128839296C>TCA477702900KCNJ1c.948G>A (p.Gly316=)
c.1005G>A (p.Gly335=)
c.999G>A (p.Gly333=)
COSMIC
11g.128839297C>ACA383243188KCNJ1c.947G>T (p.Gly316Val)
c.1004G>T (p.Gly335Val)
c.998G>T (p.Gly333Val)
11g.128839297C>GCA383243190KCNJ1c.947G>C (p.Gly316Ala)
c.1004G>C (p.Gly335Ala)
c.998G>C (p.Gly333Ala)
11g.128839297C>TCA383243192KCNJ1c.947G>A (p.Gly316Glu)
c.1004G>A (p.Gly335Glu)
c.998G>A (p.Gly333Glu)
11g.128839298C>ACA383243193KCNJ1c.946G>T (p.Gly316Trp)
c.1003G>T (p.Gly335Trp)
c.997G>T (p.Gly333Trp)
11g.128839298C=CA2008286294KCNJ1c.946G= (p.Gly316=)
c.1003G= (p.Gly335=)
c.997G= (p.Gly333=)
11g.128839298C>GCA383243194KCNJ1c.946G>C (p.Gly316Arg)
c.1003G>C (p.Gly335Arg)
c.997G>C (p.Gly333Arg)
11g.128839298C>TCA383243195KCNJ1c.946G>A (p.Gly316Arg)
c.1003G>A (p.Gly335Arg)
c.997G>A (p.Gly333Arg)
ClinVar dbSNP gnomAD v4 COSMIC
11g.128839299T>ACA383243196KCNJ1c.945A>T (p.Glu315Asp)
c.1002A>T (p.Glu334Asp)
c.996A>T (p.Glu332Asp)
11g.128839299T>CCA477702902KCNJ1c.945A>G (p.Glu315=)
c.1002A>G (p.Glu334=)
c.996A>G (p.Glu332=)
11g.128839299T>GCA383243197KCNJ1c.945A>C (p.Glu315Asp)
c.1002A>C (p.Glu334Asp)
c.996A>C (p.Glu332Asp)
11g.128839300T>ACA383243198KCNJ1c.944A>T (p.Glu315Val)
c.1001A>T (p.Glu334Val)
c.995A>T (p.Glu332Val)
11g.128839300T>CCA383243200KCNJ1c.944A>G (p.Glu315Gly)
c.1001A>G (p.Glu334Gly)
c.995A>G (p.Glu332Gly)
11g.128839300T>GCA383243202KCNJ1c.944A>C (p.Glu315Ala)
c.1001A>C (p.Glu334Ala)
c.995A>C (p.Glu332Ala)
11g.128839301C>ACA383243204KCNJ1c.943G>T (p.Glu315Ter)
c.1000G>T (p.Glu334Ter)
c.994G>T (p.Glu332Ter)
11g.128839301C>GCA383243206KCNJ1c.943G>C (p.Glu315Gln)
c.1000G>C (p.Glu334Gln)
c.994G>C (p.Glu332Gln)
11g.128839301C>TCA383243208KCNJ1c.943G>A (p.Glu315Lys)
c.1000G>A (p.Glu334Lys)
c.994G>A (p.Glu332Lys)
11g.128839302delCA2616771376KCNJ1c.943del (p.Glu315LysfsTer?)
c.1000del (p.Glu334LysfsTer?)
c.994del (p.Glu332LysfsTer?)
gnomAD v4
11g.128839301_128839305delinsCCTTTCA2008286296KCNJ1c.939_943delinsAAAGG (p.Thr313=)
c.996_1000delinsAAAGG (p.Thr332=)
c.990_994delinsAAAGG (p.Thr330=)

Number of alleles fetched