Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
11g.128839302C>ACA383243211KCNJ1c.942G>T (p.Lys314Asn)
c.999G>T (p.Lys333Asn)
c.993G>T (p.Lys331Asn)
11g.128839302C=CA2008286301KCNJ1c.942G= (p.Lys314=)
c.999G= (p.Lys333=)
c.993G= (p.Lys331=)
11g.128839302C>GCA383243212KCNJ1c.942G>C (p.Lys314Asn)
c.999G>C (p.Lys333Asn)
c.993G>C (p.Lys331Asn)
11g.128839302C>TCA477702908KCNJ1c.942G>A (p.Lys314=)
c.999G>A (p.Lys333=)
c.993G>A (p.Lys331=)
dbSNP
11g.128839302_128839305delCA6357414KCNJ1c.939_942del (p.Glu315GlyfsTer?)
c.996_999del (p.Glu334GlyfsTer?)
c.990_993del (p.Glu332GlyfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839303T>ACA383243216KCNJ1c.941A>T (p.Lys314Met)
c.998A>T (p.Lys333Met)
c.992A>T (p.Lys331Met)
11g.128839303T>CCA383243217KCNJ1c.941A>G (p.Lys314Arg)
c.998A>G (p.Lys333Arg)
c.992A>G (p.Lys331Arg)
11g.128839303T>GCA383243219KCNJ1c.941A>C (p.Lys314Thr)
c.998A>C (p.Lys333Thr)
c.992A>C (p.Lys331Thr)
11g.128839304T>ACA383243220KCNJ1c.940A>T (p.Lys314Ter)
c.997A>T (p.Lys333Ter)
c.991A>T (p.Lys331Ter)
11g.128839304T>CCA383243223KCNJ1c.940A>G (p.Lys314Glu)
c.997A>G (p.Lys333Glu)
c.991A>G (p.Lys331Glu)
11g.128839304T>GCA383243222KCNJ1c.940A>C (p.Lys314Gln)
c.997A>C (p.Lys333Gln)
c.991A>C (p.Lys331Gln)
11g.128839305T>ACA477702912KCNJ1c.939A>T (p.Thr313=)
c.996A>T (p.Thr332=)
c.990A>T (p.Thr330=)
11g.128839305T>CCA477702913KCNJ1c.939A>G (p.Thr313=)
c.996A>G (p.Thr332=)
c.990A>G (p.Thr330=)
dbSNP gnomAD v3 gnomAD v4
11g.128839305T>GCA477702914KCNJ1c.939A>C (p.Thr313=)
c.996A>C (p.Thr332=)
c.990A>C (p.Thr330=)
11g.128839305T=CA2008286304KCNJ1c.939A= (p.Thr313=)
c.996A= (p.Thr332=)
c.990A= (p.Thr330=)
11g.128839306G>ACA383243224KCNJ1c.938C>T (p.Thr313Ile)
c.995C>T (p.Thr332Ile)
c.989C>T (p.Thr330Ile)
dbSNP gnomAD v3 gnomAD v4
11g.128839306G>CCA383243226KCNJ1c.938C>G (p.Thr313Arg)
c.995C>G (p.Thr332Arg)
c.989C>G (p.Thr330Arg)
11g.128839306G=CA2008286306KCNJ1c.938C= (p.Thr313=)
c.995C= (p.Thr332=)
c.989C= (p.Thr330=)
11g.128839306G>TCA6357415KCNJ1c.938C>A (p.Thr313Lys)
c.995C>A (p.Thr332Lys)
c.989C>A (p.Thr330Lys)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.128839307T>ACA383243228KCNJ1c.937A>T (p.Thr313Ser)
c.994A>T (p.Thr332Ser)
c.988A>T (p.Thr330Ser)
11g.128839307T>CCA383243230KCNJ1c.937A>G (p.Thr313Ala)
c.994A>G (p.Thr332Ala)
c.988A>G (p.Thr330Ala)
11g.128839307T>GCA383243231KCNJ1c.937A>C (p.Thr313Pro)
c.994A>C (p.Thr332Pro)
c.988A>C (p.Thr330Pro)
11g.128839308C>ACA383243234KCNJ1c.936G>T (p.Lys312Asn)
c.993G>T (p.Lys331Asn)
c.987G>T (p.Lys329Asn)
11g.128839308C>GCA383243233KCNJ1c.936G>C (p.Lys312Asn)
c.993G>C (p.Lys331Asn)
c.987G>C (p.Lys329Asn)
11g.128839308C>TCA477702916KCNJ1c.936G>A (p.Lys312=)
c.993G>A (p.Lys331=)
c.987G>A (p.Lys329=)
11g.128839309T>ACA383243236KCNJ1c.935A>T (p.Lys312Met)
c.992A>T (p.Lys331Met)
c.986A>T (p.Lys329Met)
11g.128839309T>CCA383243238KCNJ1c.935A>G (p.Lys312Arg)
c.992A>G (p.Lys331Arg)
c.986A>G (p.Lys329Arg)
gnomAD v4
11g.128839309T>GCA383243240KCNJ1c.935A>C (p.Lys312Thr)
c.992A>C (p.Lys331Thr)
c.986A>C (p.Lys329Thr)
gnomAD v4
11g.128839310T>ACA383243242KCNJ1c.934A>T (p.Lys312Ter)
c.991A>T (p.Lys331Ter)
c.985A>T (p.Lys329Ter)
11g.128839310T>CCA383243244KCNJ1c.934A>G (p.Lys312Glu)
c.991A>G (p.Lys331Glu)
c.985A>G (p.Lys329Glu)
dbSNP gnomAD v2 gnomAD v4
11g.128839310T>GCA383243246KCNJ1c.934A>C (p.Lys312Gln)
c.991A>C (p.Lys331Gln)
c.985A>C (p.Lys329Gln)
11g.128839310T=CA2008286309KCNJ1c.934A= (p.Lys312=)
c.991A= (p.Lys331=)
c.985A= (p.Lys329=)
11g.128839311G>ACA477702921KCNJ1c.933C>T (p.Ser311=)
c.990C>T (p.Ser330=)
c.984C>T (p.Ser328=)
11g.128839311G>CCA477702919KCNJ1c.933C>G (p.Ser311=)
c.990C>G (p.Ser330=)
c.984C>G (p.Ser328=)
11g.128839311G>TCA477702918KCNJ1c.933C>A (p.Ser311=)
c.990C>A (p.Ser330=)
c.984C>A (p.Ser328=)
11g.128839312G>ACA383243251KCNJ1c.932C>T (p.Ser311Phe)
c.989C>T (p.Ser330Phe)
c.983C>T (p.Ser328Phe)
dbSNP gnomAD v2 gnomAD v4
11g.128839312G>CCA383243248KCNJ1c.932C>G (p.Ser311Cys)
c.989C>G (p.Ser330Cys)
c.983C>G (p.Ser328Cys)
11g.128839312G=CA2008286310KCNJ1c.932C= (p.Ser311=)
c.989C= (p.Ser330=)
c.983C= (p.Ser328=)
11g.128839312G>TCA383243250KCNJ1c.932C>A (p.Ser311Tyr)
c.989C>A (p.Ser330Tyr)
c.983C>A (p.Ser328Tyr)
dbSNP gnomAD v4
11g.128839313A>CCA383243254KCNJ1c.931T>G (p.Ser311Ala)
c.988T>G (p.Ser330Ala)
c.982T>G (p.Ser328Ala)
11g.128839313A>GCA383243255KCNJ1c.931T>C (p.Ser311Pro)
c.988T>C (p.Ser330Pro)
c.982T>C (p.Ser328Pro)
11g.128839313A>TCA383243257KCNJ1c.931T>A (p.Ser311Thr)
c.988T>A (p.Ser330Thr)
c.982T>A (p.Ser328Thr)
11g.128839314T>ACA477702926KCNJ1c.930A>T (p.Val310=)
c.987A>T (p.Val329=)
c.981A>T (p.Val327=)
11g.128839314T>CCA477702924KCNJ1c.930A>G (p.Val310=)
c.987A>G (p.Val329=)
c.981A>G (p.Val327=)
11g.128839314T>GCA477702925KCNJ1c.930A>C (p.Val310=)
c.987A>C (p.Val329=)
c.981A>C (p.Val327=)
11g.128839315A>CCA383243259KCNJ1c.929T>G (p.Val310Gly)
c.986T>G (p.Val329Gly)
c.980T>G (p.Val327Gly)
11g.128839315A>GCA383243261KCNJ1c.929T>C (p.Val310Ala)
c.986T>C (p.Val329Ala)
c.980T>C (p.Val327Ala)
11g.128839315A>TCA383243263KCNJ1c.929T>A (p.Val310Glu)
c.986T>A (p.Val329Glu)
c.980T>A (p.Val327Glu)
11g.128839316C>ACA383243265KCNJ1c.928G>T (p.Val310Leu)
c.985G>T (p.Val329Leu)
c.979G>T (p.Val327Leu)
11g.128839316C>GCA383243267KCNJ1c.928G>C (p.Val310Leu)
c.985G>C (p.Val329Leu)
c.979G>C (p.Val327Leu)
11g.128839316C>TCA383243269KCNJ1c.928G>A (p.Val310Ile)
c.985G>A (p.Val329Ile)
c.979G>A (p.Val327Ile)
11g.128839317T>ACA477702927KCNJ1c.927A>T (p.Ile309=)
c.984A>T (p.Ile328=)
c.978A>T (p.Ile326=)
11g.128839317T>CCA383243271KCNJ1c.927A>G (p.Ile309Met)
c.984A>G (p.Ile328Met)
c.978A>G (p.Ile326Met)
gnomAD v4
11g.128839317T>GCA477702928KCNJ1c.927A>C (p.Ile309=)
c.984A>C (p.Ile328=)
c.978A>C (p.Ile326=)
11g.128839318A=CA2008286311KCNJ1c.926T= (p.Ile309=)
c.983T= (p.Ile328=)
c.977T= (p.Ile326=)
11g.128839318A>CCA383243273KCNJ1c.926T>G (p.Ile309Arg)
c.983T>G (p.Ile328Arg)
c.977T>G (p.Ile326Arg)
11g.128839318A>GCA383243274KCNJ1c.926T>C (p.Ile309Thr)
c.983T>C (p.Ile328Thr)
c.977T>C (p.Ile326Thr)
dbSNP gnomAD v3 gnomAD v4
11g.128839318A>TCA383243276KCNJ1c.926T>A (p.Ile309Lys)
c.983T>A (p.Ile328Lys)
c.977T>A (p.Ile326Lys)
11g.128839319T>ACA383243279KCNJ1c.925A>T (p.Ile309Leu)
c.982A>T (p.Ile328Leu)
c.976A>T (p.Ile326Leu)
11g.128839319T>CCA383243281KCNJ1c.925A>G (p.Ile309Val)
c.982A>G (p.Ile328Val)
c.976A>G (p.Ile326Val)
11g.128839319T>GCA383243280KCNJ1c.925A>C (p.Ile309Leu)
c.982A>C (p.Ile328Leu)
c.976A>C (p.Ile326Leu)
11g.128839320G>ACA230627930KCNJ1c.924C>T (p.Pro308=)
c.981C>T (p.Pro327=)
c.975C>T (p.Pro325=)
dbSNP
11g.128839320G>CCA477702929KCNJ1c.924C>G (p.Pro308=)
c.981C>G (p.Pro327=)
c.975C>G (p.Pro325=)
gnomAD v4
11g.128839320G=CA2008286313KCNJ1c.924C= (p.Pro308=)
c.981C= (p.Pro327=)
c.975C= (p.Pro325=)
11g.128839320G>TCA477702930KCNJ1c.924C>A (p.Pro308=)
c.981C>A (p.Pro327=)
c.975C>A (p.Pro325=)
11g.128839321G>ACA6357416KCNJ1c.923C>T (p.Pro308Leu)
c.980C>T (p.Pro327Leu)
c.974C>T (p.Pro325Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839321G>CCA383243285KCNJ1c.923C>G (p.Pro308Arg)
c.980C>G (p.Pro327Arg)
c.974C>G (p.Pro325Arg)
11g.128839321G=CA2008286315KCNJ1c.923C= (p.Pro308=)
c.980C= (p.Pro327=)
c.974C= (p.Pro325=)
11g.128839321G>TCA383243286KCNJ1c.923C>A (p.Pro308His)
c.980C>A (p.Pro327His)
c.974C>A (p.Pro325His)
11g.128839322G>ACA383243288KCNJ1c.922C>T (p.Pro308Ser)
c.979C>T (p.Pro327Ser)
c.973C>T (p.Pro325Ser)
11g.128839322G>CCA383243289KCNJ1c.922C>G (p.Pro308Ala)
c.979C>G (p.Pro327Ala)
c.973C>G (p.Pro325Ala)
11g.128839322G>TCA383243291KCNJ1c.922C>A (p.Pro308Thr)
c.979C>A (p.Pro327Thr)
c.973C>A (p.Pro325Thr)
11g.128839323A>CCA477702932KCNJ1c.921T>G (p.Ala307=)
c.978T>G (p.Ala326=)
c.972T>G (p.Ala324=)
11g.128839323A>GCA477702933KCNJ1c.921T>C (p.Ala307=)
c.978T>C (p.Ala326=)
c.972T>C (p.Ala324=)
11g.128839323A>TCA477702934KCNJ1c.921T>A (p.Ala307=)
c.978T>A (p.Ala326=)
c.972T>A (p.Ala324=)
11g.128839324G>ACA383243294KCNJ1c.920C>T (p.Ala307Val)
c.977C>T (p.Ala326Val)
c.971C>T (p.Ala324Val)
gnomAD v4
11g.128839324G>CCA383243295KCNJ1c.920C>G (p.Ala307Gly)
c.977C>G (p.Ala326Gly)
c.971C>G (p.Ala324Gly)
11g.128839324G=CA2008286321KCNJ1c.920C= (p.Ala307=)
c.977C= (p.Ala326=)
c.971C= (p.Ala324=)
11g.128839324G>TCA6357417KCNJ1c.920C>A (p.Ala307Asp)
c.977C>A (p.Ala326Asp)
c.971C>A (p.Ala324Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839324_128839325delinsGCCA2008286323KCNJ1c.919_920delinsGC (p.Ala307=)
c.976_977delinsGC (p.Ala326=)
c.970_971delinsGC (p.Ala324=)
11g.128839325delCA943454679KCNJ1c.919del (p.Ala307LeufsTer3)
c.976del (p.Ala326LeufsTer3)
c.970del (p.Ala324LeufsTer3)
dbSNP gnomAD v3 gnomAD v4
11g.128839325C>ACA6357418KCNJ1c.919G>T (p.Ala307Ser)
c.976G>T (p.Ala326Ser)
c.970G>T (p.Ala324Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839325C=CA2008286326KCNJ1c.919G= (p.Ala307=)
c.976G= (p.Ala326=)
c.970G= (p.Ala324=)
11g.128839325C>GCA383243299KCNJ1c.919G>C (p.Ala307Pro)
c.976G>C (p.Ala326Pro)
c.970G>C (p.Ala324Pro)
11g.128839325C>TCA383243301KCNJ1c.919G>A (p.Ala307Thr)
c.976G>A (p.Ala326Thr)
c.970G>A (p.Ala324Thr)
dbSNP gnomAD v2 gnomAD v4
11g.128839326A=CA2008286331KCNJ1c.918T= (p.Phe306=)
c.975T= (p.Phe325=)
c.969T= (p.Phe323=)
11g.128839326A>CCA230627934KCNJ1c.918T>G (p.Phe306Leu)
c.975T>G (p.Phe325Leu)
c.969T>G (p.Phe323Leu)
dbSNP
11g.128839326A>GCA477702935KCNJ1c.918T>C (p.Phe306=)
c.975T>C (p.Phe325=)
c.969T>C (p.Phe323=)
11g.128839326A>TCA383243304KCNJ1c.918T>A (p.Phe306Leu)
c.975T>A (p.Phe325Leu)
c.969T>A (p.Phe323Leu)
11g.128839329delCA2739271798KCNJ1c.918del (p.Phe306LeufsTer4)
c.975del (p.Phe325LeufsTer4)
c.969del (p.Phe323LeufsTer4)
ClinVar
11g.128839327A>CCA383243305KCNJ1c.917T>G (p.Phe306Cys)
c.974T>G (p.Phe325Cys)
c.968T>G (p.Phe323Cys)
11g.128839327A>GCA383243307KCNJ1c.917T>C (p.Phe306Ser)
c.974T>C (p.Phe325Ser)
c.968T>C (p.Phe323Ser)
11g.128839327A>TCA383243309KCNJ1c.917T>A (p.Phe306Tyr)
c.974T>A (p.Phe325Tyr)
c.968T>A (p.Phe323Tyr)
11g.128839328A>CCA383243311KCNJ1c.916T>G (p.Phe306Val)
c.973T>G (p.Phe325Val)
c.967T>G (p.Phe323Val)
11g.128839328A>GCA383243313KCNJ1c.916T>C (p.Phe306Leu)
c.973T>C (p.Phe325Leu)
c.967T>C (p.Phe323Leu)
11g.128839328A>TCA383243315KCNJ1c.916T>A (p.Phe306Ile)
c.973T>A (p.Phe325Ile)
c.967T>A (p.Phe323Ile)
11g.128839329A>CCA477702937KCNJ1c.915T>G (p.Arg305=)
c.972T>G (p.Arg324=)
c.966T>G (p.Arg322=)
11g.128839329A>GCA477702938KCNJ1c.915T>C (p.Arg305=)
c.972T>C (p.Arg324=)
c.966T>C (p.Arg322=)
11g.128839329A>TCA477702936KCNJ1c.915T>A (p.Arg305=)
c.972T>A (p.Arg324=)
c.966T>A (p.Arg322=)
11g.128839330C>ACA383243316KCNJ1c.914G>T (p.Arg305Leu)
c.971G>T (p.Arg324Leu)
c.965G>T (p.Arg322Leu)
11g.128839330C=CA2008286332KCNJ1c.914G= (p.Arg305=)
c.971G= (p.Arg324=)
c.965G= (p.Arg322=)
11g.128839330C>GCA383243317KCNJ1c.914G>C (p.Arg305Pro)
c.971G>C (p.Arg324Pro)
c.965G>C (p.Arg322Pro)
dbSNP gnomAD v2 gnomAD v4
11g.128839330C>TCA383243319KCNJ1c.914G>A (p.Arg305His)
c.971G>A (p.Arg324His)
c.965G>A (p.Arg322His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839331G>ACA6357419KCNJ1c.913C>T (p.Arg305Cys)
c.970C>T (p.Arg324Cys)
c.964C>T (p.Arg322Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839331G>CCA383243322KCNJ1c.913C>G (p.Arg305Gly)
c.970C>G (p.Arg324Gly)
c.964C>G (p.Arg322Gly)
dbSNP gnomAD v4
11g.128839331G=CA2008286334KCNJ1c.913C= (p.Arg305=)
c.970C= (p.Arg324=)
c.964C= (p.Arg322=)
11g.128839331G>TCA383243324KCNJ1c.913C>A (p.Arg305Ser)
c.970C>A (p.Arg324Ser)
c.964C>A (p.Arg322Ser)
ClinVar gnomAD v4
11g.128839332G>ACA477702940KCNJ1c.912C>T (p.Tyr304=)
c.969C>T (p.Tyr323=)
c.963C>T (p.Tyr321=)
11g.128839332G>CCA383243326KCNJ1c.912C>G (p.Tyr304Ter)
c.969C>G (p.Tyr323Ter)
c.963C>G (p.Tyr321Ter)
11g.128839332G>TCA383243327KCNJ1c.912C>A (p.Tyr304Ter)
c.969C>A (p.Tyr323Ter)
c.963C>A (p.Tyr321Ter)
11g.128839333T>ACA383243328KCNJ1c.911A>T (p.Tyr304Phe)
c.968A>T (p.Tyr323Phe)
c.962A>T (p.Tyr321Phe)
11g.128839333T>CCA6357420KCNJ1c.911A>G (p.Tyr304Cys)
c.968A>G (p.Tyr323Cys)
c.962A>G (p.Tyr321Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839333T>GCA383243330KCNJ1c.911A>C (p.Tyr304Ser)
c.968A>C (p.Tyr323Ser)
c.962A>C (p.Tyr321Ser)
11g.128839333T=CA2008286339KCNJ1c.911A= (p.Tyr304=)
c.968A= (p.Tyr323=)
c.962A= (p.Tyr321=)
11g.128839334A>CCA383243332KCNJ1c.910T>G (p.Tyr304Asp)
c.967T>G (p.Tyr323Asp)
c.961T>G (p.Tyr321Asp)
11g.128839334A>GCA383243335KCNJ1c.910T>C (p.Tyr304His)
c.967T>C (p.Tyr323His)
c.961T>C (p.Tyr321His)
11g.128839334A>TCA383243333KCNJ1c.910T>A (p.Tyr304Asn)
c.967T>A (p.Tyr323Asn)
c.961T>A (p.Tyr321Asn)
11g.128839335G>ACA477702943KCNJ1c.909C>T (p.Gly303=)
c.966C>T (p.Gly322=)
c.960C>T (p.Gly320=)
dbSNP gnomAD v4
11g.128839335G>CCA477702942KCNJ1c.909C>G (p.Gly303=)
c.966C>G (p.Gly322=)
c.960C>G (p.Gly320=)
11g.128839335G=CA2008286341KCNJ1c.909C= (p.Gly303=)
c.966C= (p.Gly322=)
c.960C= (p.Gly320=)
11g.128839335G>TCA477702941KCNJ1c.909C>A (p.Gly303=)
c.966C>A (p.Gly322=)
c.960C>A (p.Gly320=)
11g.128839336C>ACA383243337KCNJ1c.908G>T (p.Gly303Val)
c.965G>T (p.Gly322Val)
c.959G>T (p.Gly320Val)
gnomAD v4
11g.128839336C=CA2008286344KCNJ1c.908G= (p.Gly303=)
c.965G= (p.Gly322=)
c.959G= (p.Gly320=)
11g.128839336C>GCA383243338KCNJ1c.908G>C (p.Gly303Ala)
c.965G>C (p.Gly322Ala)
c.959G>C (p.Gly320Ala)
11g.128839336C>TCA6357421KCNJ1c.908G>A (p.Gly303Asp)
c.965G>A (p.Gly322Asp)
c.959G>A (p.Gly320Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839337C>ACA383243341KCNJ1c.907G>T (p.Gly303Cys)
c.964G>T (p.Gly322Cys)
c.958G>T (p.Gly320Cys)
11g.128839337C=CA2008286347KCNJ1c.907G= (p.Gly303=)
c.964G= (p.Gly322=)
c.958G= (p.Gly320=)
11g.128839337C>GCA383243342KCNJ1c.907G>C (p.Gly303Arg)
c.964G>C (p.Gly322Arg)
c.958G>C (p.Gly320Arg)
11g.128839337C>TCA6357422KCNJ1c.907G>A (p.Gly303Ser)
c.964G>A (p.Gly322Ser)
c.958G>A (p.Gly320Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.128839338C>ACA383243345KCNJ1c.906G>T (p.Trp302Cys)
c.963G>T (p.Trp321Cys)
c.957G>T (p.Trp319Cys)
11g.128839338C>GCA383243347KCNJ1c.906G>C (p.Trp302Cys)
c.963G>C (p.Trp321Cys)
c.957G>C (p.Trp319Cys)
11g.128839338C>TCA383243348KCNJ1c.906G>A (p.Trp302Ter)
c.963G>A (p.Trp321Ter)
c.957G>A (p.Trp319Ter)
ClinVar
11g.128839339C>ACA383243349KCNJ1c.905G>T (p.Trp302Leu)
c.962G>T (p.Trp321Leu)
c.956G>T (p.Trp319Leu)
11g.128839339C=CA2008286351KCNJ1c.905G= (p.Trp302=)
c.962G= (p.Trp321=)
c.956G= (p.Trp319=)
11g.128839339C>GCA383243351KCNJ1c.905G>C (p.Trp302Ser)
c.962G>C (p.Trp321Ser)
c.956G>C (p.Trp319Ser)
11g.128839339C>TCA383243353KCNJ1c.905G>A (p.Trp302Ter)
c.962G>A (p.Trp321Ter)
c.956G>A (p.Trp319Ter)
dbSNP
11g.128839340A>CCA383243355KCNJ1c.904T>G (p.Trp302Gly)
c.961T>G (p.Trp321Gly)
c.955T>G (p.Trp319Gly)
11g.128839340A>GCA383243359KCNJ1c.904T>C (p.Trp302Arg)
c.961T>C (p.Trp321Arg)
c.955T>C (p.Trp319Arg)
11g.128839340A>TCA383243357KCNJ1c.904T>A (p.Trp302Arg)
c.961T>A (p.Trp321Arg)
c.955T>A (p.Trp319Arg)
11g.128839341A=CA2008286354KCNJ1c.903T= (p.Leu301=)
c.960T= (p.Leu320=)
c.954T= (p.Leu318=)
11g.128839341A>CCA477702948KCNJ1c.903T>G (p.Leu301=)
c.960T>G (p.Leu320=)
c.954T>G (p.Leu318=)
ClinVar
11g.128839341A>GCA6357423KCNJ1c.903T>C (p.Leu301=)
c.960T>C (p.Leu320=)
c.954T>C (p.Leu318=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.128839341A>TCA477702949KCNJ1c.903T>A (p.Leu301=)
c.960T>A (p.Leu320=)
c.954T>A (p.Leu318=)
11g.128839342A=CA2008286356KCNJ1c.902T= (p.Leu301=)
c.959T= (p.Leu320=)
c.953T= (p.Leu318=)
11g.128839342A>CCA383243361KCNJ1c.902T>G (p.Leu301Arg)
c.959T>G (p.Leu320Arg)
c.953T>G (p.Leu318Arg)
11g.128839342A>GCA383243364KCNJ1c.902T>C (p.Leu301Pro)
c.959T>C (p.Leu320Pro)
c.953T>C (p.Leu318Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4
11g.128839342A>TCA383243365KCNJ1c.902T>A (p.Leu301His)
c.959T>A (p.Leu320His)
c.953T>A (p.Leu318His)
11g.128839342_128839343insCACACCCAACCA2794083163KCNJ1c.901_902insGTTGGGTGTG (p.Leu301ArgfsTer27)
c.958_959insGTTGGGTGTG (p.Leu320ArgfsTer27)
c.952_953insGTTGGGTGTG (p.Leu318ArgfsTer27)
11g.128839343delCA2616771377KCNJ1c.901del (p.Leu301PhefsTer9)
c.958del (p.Leu320PhefsTer9)
c.952del (p.Leu318PhefsTer9)
gnomAD v4
11g.128839343G>ACA383243366KCNJ1c.901C>T (p.Leu301Phe)
c.958C>T (p.Leu320Phe)
c.952C>T (p.Leu318Phe)
11g.128839343G>CCA6357425KCNJ1c.901C>G (p.Leu301Val)
c.958C>G (p.Leu320Val)
c.952C>G (p.Leu318Val)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.128839343G=CA2008286360KCNJ1c.901C= (p.Leu301=)
c.958C= (p.Leu320=)
c.952C= (p.Leu318=)
11g.128839343G>TCA6357424KCNJ1c.901C>A (p.Leu301Ile)
c.958C>A (p.Leu320Ile)
c.952C>A (p.Leu318Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched