Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.223053074dupCA539837276KCNE4c.244dup (p.Glu82GlyfsTer?)
c.397dup (p.Glu133GlyfsTer?)
n.75+800dup
dbSNP gnomAD v2
2g.223053074delCA2137822KCNE4c.244del (p.Glu82ArgfsTer3)
c.397del (p.Glu133ArgfsTer3)
n.75+800del
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.223053073G>ACA431669414KCNE4c.243G>A (p.Gly81=)
c.396G>A (p.Gly132=)
n.75+799G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.223053073G>CCA431669415KCNE4c.243G>C (p.Gly81=)
c.396G>C (p.Gly132=)
n.75+799G>C
2g.223053073G=CA1330889615KCNE4c.243G= (p.Gly81=)
c.396G= (p.Gly132=)
n.75+799G=
2g.223053073G>TCA431669416KCNE4c.243G>T (p.Gly81=)
c.396G>T (p.Gly132=)
n.75+799G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.223053074G>ACA2137827KCNE4c.244G>A (p.Glu82Lys)
c.397G>A (p.Glu133Lys)
n.75+800G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223053074G>CCA351121131KCNE4c.244G>C (p.Glu82Gln)
c.397G>C (p.Glu133Gln)
n.75+800G>C
2g.223053074G=CA1330889616KCNE4c.244G= (p.Glu82=)
c.397G= (p.Glu133=)
n.75+800G=
2g.223053074G>TCA351121130KCNE4c.244G>T (p.Glu82Ter)
c.397G>T (p.Glu133Ter)
n.75+800G>T
2g.223053075A>CCA351121132KCNE4c.245A>C (p.Glu82Ala)
c.398A>C (p.Glu133Ala)
n.75+801A>C
gnomAD v4
2g.223053075A>GCA351121133KCNE4c.245A>G (p.Glu82Gly)
c.398A>G (p.Glu133Gly)
n.75+801A>G
gnomAD v4
2g.223053075A>TCA351121134KCNE4c.245A>T (p.Glu82Val)
c.398A>T (p.Glu133Val)
n.75+801A>T
2g.223053076G>ACA431669419KCNE4c.246G>A (p.Glu82=)
c.399G>A (p.Glu133=)
n.75+802G>A
COSMIC
2g.223053076G>CCA351121135KCNE4c.246G>C (p.Glu82Asp)
c.399G>C (p.Glu133Asp)
n.75+802G>C
2g.223053076G>TCA351121136KCNE4c.246G>T (p.Glu82Asp)
c.399G>T (p.Glu133Asp)
n.75+802G>T
2g.223053077G>ACA351121139KCNE4c.247G>A (p.Ala83Thr)
c.400G>A (p.Ala134Thr)
n.75+803G>A
dbSNP gnomAD v2 gnomAD v4
2g.223053077G>CCA351121138KCNE4c.247G>C (p.Ala83Pro)
c.400G>C (p.Ala134Pro)
n.75+803G>C
gnomAD v4
2g.223053077G=CA1330889617KCNE4c.247G= (p.Ala83=)
c.400G= (p.Ala134=)
n.75+803G=
2g.223053077G>TCA351121137KCNE4c.247G>T (p.Ala83Ser)
c.400G>T (p.Ala134Ser)
n.75+803G>T
2g.223053078C>ACA351121140KCNE4c.248C>A (p.Ala83Asp)
c.401C>A (p.Ala134Asp)
n.75+804C>A
2g.223053078C>GCA351121141KCNE4c.248C>G (p.Ala83Gly)
c.401C>G (p.Ala134Gly)
n.75+804C>G
2g.223053078C>TCA351121142KCNE4c.248C>T (p.Ala83Val)
c.401C>T (p.Ala134Val)
n.75+804C>T
2g.223053079C>ACA431669421KCNE4c.249C>A (p.Ala83=)
c.402C>A (p.Ala134=)
n.75+805C>A
2g.223053079C=CA1330889618KCNE4c.249C= (p.Ala83=)
c.402C= (p.Ala134=)
n.75+805C=
2g.223053079C>GCA431669423KCNE4c.249C>G (p.Ala83=)
c.402C>G (p.Ala134=)
n.75+805C>G
2g.223053079C>TCA431669424KCNE4c.249C>T (p.Ala83=)
c.402C>T (p.Ala134=)
n.75+805C>T
dbSNP gnomAD v2 gnomAD v4
2g.223053080A=CA1330889619KCNE4c.250A= (p.Met84=)
c.403A= (p.Met135=)
n.75+806A=
2g.223053080A>CCA351121143KCNE4c.250A>C (p.Met84Leu)
c.403A>C (p.Met135Leu)
n.75+806A>C
2g.223053080A>GCA66396444KCNE4c.250A>G (p.Met84Val)
c.403A>G (p.Met135Val)
n.75+806A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.223053080A>TCA351121144KCNE4c.250A>T (p.Met84Leu)
c.403A>T (p.Met135Leu)
n.75+806A>T
2g.223053081T>ACA351121145KCNE4c.251T>A (p.Met84Lys)
c.404T>A (p.Met135Lys)
n.75+807T>A
gnomAD v4
2g.223053081T>CCA351121147KCNE4c.251T>C (p.Met84Thr)
c.404T>C (p.Met135Thr)
n.75+807T>C
2g.223053081T>GCA351121146KCNE4c.251T>G (p.Met84Arg)
c.404T>G (p.Met135Arg)
n.75+807T>G
2g.223053082G>ACA351121148KCNE4c.252G>A (p.Met84Ile)
c.405G>A (p.Met135Ile)
n.75+808G>A
2g.223053082G>CCA351121149KCNE4c.252G>C (p.Met84Ile)
c.405G>C (p.Met135Ile)
n.75+808G>C
2g.223053082G>TCA351121150KCNE4c.252G>T (p.Met84Ile)
c.405G>T (p.Met135Ile)
n.75+808G>T
2g.223053083A>CCA351121151KCNE4c.253A>C (p.Lys85Gln)
c.406A>C (p.Lys136Gln)
n.75+809A>C
2g.223053083A>GCA351121152KCNE4c.253A>G (p.Lys85Glu)
c.406A>G (p.Lys136Glu)
n.75+809A>G
2g.223053083A>TCA351121153KCNE4c.253A>T (p.Lys85Ter)
c.406A>T (p.Lys136Ter)
n.75+809A>T
2g.223053084A=CA1330889620KCNE4c.254A= (p.Lys85=)
c.407A= (p.Lys136=)
n.75+810A=
2g.223053084A>CCA351121154KCNE4c.254A>C (p.Lys85Thr)
c.407A>C (p.Lys136Thr)
n.75+810A>C
2g.223053084A>GCA351121155KCNE4c.254A>G (p.Lys85Arg)
c.407A>G (p.Lys136Arg)
n.75+810A>G
dbSNP gnomAD v2 gnomAD v4
2g.223053084A>TCA351121156KCNE4c.254A>T (p.Lys85Met)
c.407A>T (p.Lys136Met)
n.75+810A>T
2g.223053085G>ACA431669428KCNE4c.255G>A (p.Lys85=)
c.408G>A (p.Lys136=)
n.75+811G>A
dbSNP gnomAD v3 gnomAD v4
2g.223053085G>CCA351121157KCNE4c.255G>C (p.Lys85Asn)
c.408G>C (p.Lys136Asn)
n.75+811G>C
2g.223053085G=CA1330889621KCNE4c.255G= (p.Lys85=)
c.408G= (p.Lys136=)
n.75+811G=
2g.223053085G>TCA351121158KCNE4c.255G>T (p.Lys85Asn)
c.408G>T (p.Lys136Asn)
n.75+811G>T
2g.223053086C>ACA351121161KCNE4c.256C>A (p.Pro86Thr)
c.409C>A (p.Pro137Thr)
n.75+812C>A
gnomAD v4
2g.223053086C>GCA351121160KCNE4c.256C>G (p.Pro86Ala)
c.409C>G (p.Pro137Ala)
n.75+812C>G
2g.223053086C>TCA351121159KCNE4c.256C>T (p.Pro86Ser)
c.409C>T (p.Pro137Ser)
n.75+812C>T
2g.223053087C>ACA351121162KCNE4c.257C>A (p.Pro86Gln)
c.410C>A (p.Pro137Gln)
n.75+813C>A
2g.223053087C>GCA351121164KCNE4c.257C>G (p.Pro86Arg)
c.410C>G (p.Pro137Arg)
n.75+813C>G
2g.223053087C>TCA351121163KCNE4c.257C>T (p.Pro86Leu)
c.410C>T (p.Pro137Leu)
n.75+813C>T
gnomAD v4
2g.223053088G>ACA2137828KCNE4c.258G>A (p.Pro86=)
c.411G>A (p.Pro137=)
n.75+814G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223053088G>CCA431669437KCNE4c.258G>C (p.Pro86=)
c.411G>C (p.Pro137=)
n.75+814G>C
2g.223053088G=CA1330889622KCNE4c.258G= (p.Pro86=)
c.411G= (p.Pro137=)
n.75+814G=
2g.223053088G>TCA431669438KCNE4c.258G>T (p.Pro86=)
c.411G>T (p.Pro137=)
n.75+814G>T
gnomAD v4
2g.223053089C>ACA351121165KCNE4c.259C>A (p.Leu87Met)
c.412C>A (p.Leu138Met)
n.75+815C>A
gnomAD v4
2g.223053089C=CA1330889623KCNE4c.259C= (p.Leu87=)
c.412C= (p.Leu138=)
n.75+815C=
2g.223053089C>GCA351121166KCNE4c.259C>G (p.Leu87Val)
c.412C>G (p.Leu138Val)
n.75+815C>G
2g.223053089C>TCA431669439KCNE4c.259C>T (p.Leu87=)
c.412C>T (p.Leu138=)
n.75+815C>T
dbSNP gnomAD v2 gnomAD v4
2g.223053090T>ACA351121167KCNE4c.260T>A (p.Leu87Gln)
c.413T>A (p.Leu138Gln)
n.75+816T>A
2g.223053090T>CCA351121168KCNE4c.260T>C (p.Leu87Pro)
c.413T>C (p.Leu138Pro)
n.75+816T>C
dbSNP gnomAD v2 gnomAD v4
2g.223053090T>GCA351121169KCNE4c.260T>G (p.Leu87Arg)
c.413T>G (p.Leu138Arg)
n.75+816T>G
2g.223053090T=CA1330889624KCNE4c.260T= (p.Leu87=)
c.413T= (p.Leu138=)
n.75+816T=
2g.223053091G>ACA431669444KCNE4c.261G>A (p.Leu87=)
c.414G>A (p.Leu138=)
n.75+817G>A
2g.223053091G>CCA431669445KCNE4c.261G>C (p.Leu87=)
c.414G>C (p.Leu138=)
n.75+817G>C
2g.223053091G=CA1330889625KCNE4c.261G= (p.Leu87=)
c.414G= (p.Leu138=)
n.75+817G=
2g.223053091G>TCA431669446KCNE4c.261G>T (p.Leu87=)
c.414G>T (p.Leu138=)
n.75+817G>T
dbSNP gnomAD v2 gnomAD v4
2g.223053092C>ACA351121170KCNE4c.262C>A (p.Pro88Thr)
c.415C>A (p.Pro139Thr)
n.75+818C>A
dbSNP gnomAD v3 gnomAD v4
2g.223053092C=CA1330889626KCNE4c.262C= (p.Pro88=)
c.415C= (p.Pro139=)
n.75+818C=
2g.223053092C>GCA351121171KCNE4c.262C>G (p.Pro88Ala)
c.415C>G (p.Pro139Ala)
n.75+818C>G
2g.223053092C>TCA351121172KCNE4c.262C>T (p.Pro88Ser)
c.415C>T (p.Pro139Ser)
n.75+818C>T
gnomAD v4
2g.223053093C>ACA351121173KCNE4c.263C>A (p.Pro88His)
c.416C>A (p.Pro139His)
n.75+819C>A
2g.223053093C>GCA351121174KCNE4c.263C>G (p.Pro88Arg)
c.416C>G (p.Pro139Arg)
n.75+819C>G
2g.223053093C>TCA351121175KCNE4c.263C>T (p.Pro88Leu)
c.416C>T (p.Pro139Leu)
n.75+819C>T
COSMIC
2g.223053094T>ACA431669448KCNE4c.264T>A (p.Pro88=)
c.417T>A (p.Pro139=)
n.75+820T>A
dbSNP gnomAD v4
2g.223053094T>CCA2137829KCNE4c.264T>C (p.Pro88=)
c.417T>C (p.Pro139=)
n.75+820T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223053094T>GCA2137830KCNE4c.264T>G (p.Pro88=)
c.417T>G (p.Pro139=)
n.75+820T>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223053094T=CA1330889627KCNE4c.264T= (p.Pro88=)
c.417T= (p.Pro139=)
n.75+820T=
2g.223053094_223053095insCCCA1042772618KCNE4c.264_265insCC (p.Val89ProfsTer6)
c.417_418insCC (p.Val140ProfsTer6)
n.75+820_75+821insCC
gnomAD v3 gnomAD v4
2g.223053095G>ACA351121176KCNE4c.265G>A (p.Val89Met)
c.418G>A (p.Val140Met)
n.75+821G>A
gnomAD v4
2g.223053095G>CCA351121178KCNE4c.265G>C (p.Val89Leu)
c.418G>C (p.Val140Leu)
n.75+821G>C
gnomAD v4
2g.223053095G>TCA351121177KCNE4c.265G>T (p.Val89Leu)
c.418G>T (p.Val140Leu)
n.75+821G>T
2g.223053096T>ACA351121179KCNE4c.266T>A (p.Val89Glu)
c.419T>A (p.Val140Glu)
n.75+822T>A
2g.223053096T>CCA351121180KCNE4c.266T>C (p.Val89Ala)
c.419T>C (p.Val140Ala)
n.75+822T>C
dbSNP
2g.223053096T>GCA351121181KCNE4c.266T>G (p.Val89Gly)
c.419T>G (p.Val140Gly)
n.75+822T>G
dbSNP gnomAD v4
2g.223053096T=CA1330889628KCNE4c.266T= (p.Val89=)
c.419T= (p.Val140=)
n.75+822T=
2g.223053097G>ACA2137831KCNE4c.267G>A (p.Val89=)
c.420G>A (p.Val140=)
n.75+823G>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.223053097G>CCA431669451KCNE4c.267G>C (p.Val89=)
c.420G>C (p.Val140=)
n.75+823G>C
2g.223053097G=CA1330889629KCNE4c.267G= (p.Val89=)
c.420G= (p.Val140=)
n.75+823G=
2g.223053097G>TCA431669450KCNE4c.267G>T (p.Val89=)
c.420G>T (p.Val140=)
n.75+823G>T
2g.223053098G>ACA351121182KCNE4c.268G>A (p.Val90Met)
c.421G>A (p.Val141Met)
n.75+824G>A
2g.223053098G>CCA351121183KCNE4c.268G>C (p.Val90Leu)
c.421G>C (p.Val141Leu)
n.75+824G>C
dbSNP gnomAD v4
2g.223053098G=CA1330889630KCNE4c.268G= (p.Val90=)
c.421G= (p.Val141=)
n.75+824G=
2g.223053098G>TCA351121184KCNE4c.268G>T (p.Val90Leu)
c.421G>T (p.Val141Leu)
n.75+824G>T
gnomAD v4
2g.223053099T>ACA351121185KCNE4c.269T>A (p.Val90Glu)
c.422T>A (p.Val141Glu)
n.75+825T>A
2g.223053099T>CCA351121186KCNE4c.269T>C (p.Val90Ala)
c.422T>C (p.Val141Ala)
n.75+825T>C
2g.223053099T>GCA351121187KCNE4c.269T>G (p.Val90Gly)
c.422T>G (p.Val141Gly)
n.75+825T>G
dbSNP
2g.223053099T=CA1330889631KCNE4c.269T= (p.Val90=)
c.422T= (p.Val141=)
n.75+825T=
2g.223053100G>ACA66396445KCNE4c.270G>A (p.Val90=)
c.423G>A (p.Val141=)
n.75+826G>A
dbSNP gnomAD v2 gnomAD v4
2g.223053100G>CCA431669455KCNE4c.270G>C (p.Val90=)
c.423G>C (p.Val141=)
n.75+826G>C
2g.223053100G=CA1330889632KCNE4c.270G= (p.Val90=)
c.423G= (p.Val141=)
n.75+826G=
2g.223053100G>TCA431669454KCNE4c.270G>T (p.Val90=)
c.423G>T (p.Val141=)
n.75+826G>T
2g.223053101T>ACA351121190KCNE4c.271T>A (p.Ser91Thr)
c.424T>A (p.Ser142Thr)
n.75+827T>A
2g.223053101T>CCA351121189KCNE4c.271T>C (p.Ser91Pro)
c.424T>C (p.Ser142Pro)
n.75+827T>C
2g.223053101T>GCA351121188KCNE4c.271T>G (p.Ser91Ala)
c.424T>G (p.Ser142Ala)
n.75+827T>G
2g.223053102C>ACA351121191KCNE4c.272C>A (p.Ser91Ter)
c.425C>A (p.Ser142Ter)
n.75+828C>A
dbSNP
2g.223053102C=CA1330889633KCNE4c.272C= (p.Ser91=)
c.425C= (p.Ser142=)
n.75+828C=
2g.223053102C>GCA351121192KCNE4c.272C>G (p.Ser91Trp)
c.425C>G (p.Ser142Trp)
n.75+828C>G
2g.223053102C>TCA351121193KCNE4c.272C>T (p.Ser91Leu)
c.425C>T (p.Ser142Leu)
n.75+828C>T
2g.223053103G>ACA431669457KCNE4c.273G>A (p.Ser91=)
c.426G>A (p.Ser142=)
n.75+829G>A
dbSNP gnomAD v4
2g.223053103G>CCA2137832KCNE4c.273G>C (p.Ser91=)
c.426G>C (p.Ser142=)
n.75+829G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223053103G=CA1330889634KCNE4c.273G= (p.Ser91=)
c.426G= (p.Ser142=)
n.75+829G=
2g.223053103G>TCA431669458KCNE4c.273G>T (p.Ser91=)
c.426G>T (p.Ser142=)
n.75+829G>T
gnomAD v4
2g.223053104G>ACA351121194KCNE4c.274G>A (p.Gly92Ser)
c.427G>A (p.Gly143Ser)
n.75+830G>A
dbSNP gnomAD v4
2g.223053104G>CCA351121195KCNE4c.274G>C (p.Gly92Arg)
c.427G>C (p.Gly143Arg)
n.75+830G>C
2g.223053104G=CA1330889635KCNE4c.274G= (p.Gly92=)
c.427G= (p.Gly143=)
n.75+830G=
2g.223053104G>TCA351121196KCNE4c.274G>T (p.Gly92Cys)
c.427G>T (p.Gly143Cys)
n.75+830G>T
2g.223053105G>ACA351121197KCNE4c.275G>A (p.Gly92Asp)
c.428G>A (p.Gly143Asp)
n.75+831G>A
dbSNP gnomAD v4
2g.223053105G>CCA351121198KCNE4c.275G>C (p.Gly92Ala)
c.428G>C (p.Gly143Ala)
n.75+831G>C
dbSNP gnomAD v3 gnomAD v4
2g.223053105G=CA1330889636KCNE4c.275G= (p.Gly92=)
c.428G= (p.Gly143=)
n.75+831G=
2g.223053105G>TCA351121199KCNE4c.275G>T (p.Gly92Val)
c.428G>T (p.Gly143Val)
n.75+831G>T
2g.223053106C>ACA431669460KCNE4c.276C>A (p.Gly92=)
c.429C>A (p.Gly143=)
n.75+832C>A
2g.223053106C>GCA431669461KCNE4c.276C>G (p.Gly92=)
c.429C>G (p.Gly143=)
n.75+832C>G
2g.223053106C>TCA431669462KCNE4c.276C>T (p.Gly92=)
c.429C>T (p.Gly143=)
n.75+832C>T
gnomAD v4
2g.223053107C>ACA351121200KCNE4c.277C>A (p.Leu93Met)
c.430C>A (p.Leu144Met)
n.75+833C>A
2g.223053107C>GCA351121201KCNE4c.277C>G (p.Leu93Val)
c.430C>G (p.Leu144Val)
n.75+833C>G
2g.223053107C>TCA431669463KCNE4c.277C>T (p.Leu93=)
c.430C>T (p.Leu144=)
n.75+833C>T
2g.223053108T>ACA351121203KCNE4c.278T>A (p.Leu93Gln)
c.431T>A (p.Leu144Gln)
n.75+834T>A
2g.223053108T>CCA351121204KCNE4c.278T>C (p.Leu93Pro)
c.431T>C (p.Leu144Pro)
n.75+834T>C
dbSNP gnomAD v2 gnomAD v4
2g.223053108T>GCA351121202KCNE4c.278T>G (p.Leu93Arg)
c.431T>G (p.Leu144Arg)
n.75+834T>G
gnomAD v4
2g.223053108T=CA1330889637KCNE4c.278T= (p.Leu93=)
c.431T= (p.Leu144=)
n.75+834T=
2g.223053109G>ACA431669464KCNE4c.279G>A (p.Leu93=)
c.432G>A (p.Leu144=)
n.75+835G>A
gnomAD v4
2g.223053109G>CCA431669465KCNE4c.279G>C (p.Leu93=)
c.432G>C (p.Leu144=)
n.75+835G>C
2g.223053109G>TCA431669466KCNE4c.279G>T (p.Leu93=)
c.432G>T (p.Leu144=)
n.75+835G>T
2g.223053110A>CCA431669467KCNE4c.280A>C (p.Arg94=)
c.433A>C (p.Arg145=)
n.75+836A>C
2g.223053110A>GCA351121205KCNE4c.280A>G (p.Arg94Gly)
c.433A>G (p.Arg145Gly)
n.75+836A>G
2g.223053110A>TCA351121206KCNE4c.280A>T (p.Arg94Trp)
c.433A>T (p.Arg145Trp)
n.75+836A>T
gnomAD v4
2g.223053111G>ACA351121207KCNE4c.281G>A (p.Arg94Lys)
c.434G>A (p.Arg145Lys)
n.75+837G>A
2g.223053111G>CCA351121208KCNE4c.281G>C (p.Arg94Thr)
c.434G>C (p.Arg145Thr)
n.75+837G>C
2g.223053111G>TCA351121209KCNE4c.281G>T (p.Arg94Met)
c.434G>T (p.Arg145Met)
n.75+837G>T
2g.223053112G>ACA431669469KCNE4c.282G>A (p.Arg94=)
c.435G>A (p.Arg145=)
n.75+838G>A
dbSNP gnomAD v2 gnomAD v4
2g.223053112G>CCA351121211KCNE4c.282G>C (p.Arg94Ser)
c.435G>C (p.Arg145Ser)
n.75+838G>C
2g.223053112G=CA1330889638KCNE4c.282G= (p.Arg94=)
c.435G= (p.Arg145=)
n.75+838G=
2g.223053112G>TCA351121210KCNE4c.282G>T (p.Arg94Ser)
c.435G>T (p.Arg145Ser)
n.75+838G>T
dbSNP gnomAD v3 gnomAD v4
2g.223053113T>ACA351121212KCNE4c.283T>A (p.Ser95Thr)
c.436T>A (p.Ser146Thr)
n.75+839T>A
2g.223053113T>CCA351121213KCNE4c.283T>C (p.Ser95Pro)
c.436T>C (p.Ser146Pro)
n.75+839T>C
2g.223053113T>GCA351121214KCNE4c.283T>G (p.Ser95Ala)
c.436T>G (p.Ser146Ala)
n.75+839T>G
2g.223053114C>ACA351121215KCNE4c.284C>A (p.Ser95Ter)
c.437C>A (p.Ser146Ter)
n.75+840C>A
gnomAD v4
2g.223053114C=CA1330889639KCNE4c.284C= (p.Ser95=)
c.437C= (p.Ser146=)
n.75+840C=
2g.223053114C>GCA351121216KCNE4c.284C>G (p.Ser95Trp)
c.437C>G (p.Ser146Trp)
n.75+840C>G
2g.223053114C>TCA66396446KCNE4c.284C>T (p.Ser95Leu)
c.437C>T (p.Ser146Leu)
n.75+840C>T
dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.223053115G>ACA431669471KCNE4c.285G>A (p.Ser95=)
c.438G>A (p.Ser146=)
n.75+841G>A
dbSNP gnomAD v2 gnomAD v4
2g.223053115G>CCA431669472KCNE4c.285G>C (p.Ser95=)
c.438G>C (p.Ser146=)
n.75+841G>C
dbSNP gnomAD v2 gnomAD v4
2g.223053115G=CA1330889640KCNE4c.285G= (p.Ser95=)
c.438G= (p.Ser146=)
n.75+841G=
2g.223053115G>TCA431669473KCNE4c.285G>T (p.Ser95=)
c.438G>T (p.Ser146=)
n.75+841G>T
gnomAD v4
2g.223053116G>ACA351121219KCNE4c.286G>A (p.Val96Met)
c.439G>A (p.Val147Met)
n.75+842G>A
2g.223053116G>CCA351121218KCNE4c.286G>C (p.Val96Leu)
c.439G>C (p.Val147Leu)
n.75+842G>C
2g.223053116G>TCA351121217KCNE4c.286G>T (p.Val96Leu)
c.439G>T (p.Val147Leu)
n.75+842G>T
2g.223053117T>ACA351121220KCNE4c.287T>A (p.Val96Glu)
c.440T>A (p.Val147Glu)
n.75+843T>A
2g.223053117T>CCA2137833KCNE4c.287T>C (p.Val96Ala)
c.440T>C (p.Val147Ala)
n.75+843T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223053117T>GCA351121221KCNE4c.287T>G (p.Val96Gly)
c.440T>G (p.Val147Gly)
n.75+843T>G
2g.223053117T=CA1330889641KCNE4c.287T= (p.Val96=)
c.440T= (p.Val147=)
n.75+843T=
2g.223053118G>ACA431669475KCNE4c.288G>A (p.Val96=)
c.441G>A (p.Val147=)
n.75+844G>A
2g.223053118G>CCA431669476KCNE4c.288G>C (p.Val96=)
c.441G>C (p.Val147=)
n.75+844G>C
2g.223053118G>TCA431669477KCNE4c.288G>T (p.Val96=)
c.441G>T (p.Val147=)
n.75+844G>T
2g.223053119C>ACA351121222KCNE4c.289C>A (p.Gln97Lys)
c.442C>A (p.Gln148Lys)
n.75+845C>A
2g.223053119C=CA1330889642KCNE4c.289C= (p.Gln97=)
c.442C= (p.Gln148=)
n.75+845C=
2g.223053119C>GCA351121223KCNE4c.289C>G (p.Gln97Glu)
c.442C>G (p.Gln148Glu)
n.75+845C>G
2g.223053119C>TCA351121224KCNE4c.289C>T (p.Gln97Ter)
c.442C>T (p.Gln148Ter)
n.75+845C>T
dbSNP gnomAD v2
2g.223053120A=CA1330889643KCNE4c.290A= (p.Gln97=)
c.443A= (p.Gln148=)
n.75+846A=
2g.223053120A>CCA2137834KCNE4c.290A>C (p.Gln97Pro)
c.443A>C (p.Gln148Pro)
n.75+846A>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.223053120A>GCA351121225KCNE4c.290A>G (p.Gln97Arg)
c.443A>G (p.Gln148Arg)
n.75+846A>G
2g.223053120A>TCA351121226KCNE4c.290A>T (p.Gln97Leu)
c.443A>T (p.Gln148Leu)
n.75+846A>T
2g.223053121G>ACA431669479KCNE4c.291G>A (p.Gln97=)
c.444G>A (p.Gln148=)
n.75+847G>A
2g.223053121G>CCA351121227KCNE4c.291G>C (p.Gln97His)
c.444G>C (p.Gln148His)
n.75+847G>C
2g.223053121G>TCA351121228KCNE4c.291G>T (p.Gln97His)
c.444G>T (p.Gln148His)
n.75+847G>T
2g.223053122G>ACA351121229KCNE4c.292G>A (p.Val98Met)
c.445G>A (p.Val149Met)
n.75+848G>A
2g.223053122G>CCA351121231KCNE4c.292G>C (p.Val98Leu)
c.445G>C (p.Val149Leu)
n.75+848G>C
2g.223053122G>TCA351121230KCNE4c.292G>T (p.Val98Leu)
c.445G>T (p.Val149Leu)
n.75+848G>T
2g.223053123T>ACA351121232KCNE4c.293T>A (p.Val98Glu)
c.446T>A (p.Val149Glu)
n.75+849T>A
2g.223053123T>CCA351121233KCNE4c.293T>C (p.Val98Ala)
c.446T>C (p.Val149Ala)
n.75+849T>C
2g.223053123T>GCA351121234KCNE4c.293T>G (p.Val98Gly)
c.446T>G (p.Val149Gly)
n.75+849T>G
2g.223053124G>ACA66396447KCNE4c.294G>A (p.Val98=)
c.447G>A (p.Val149=)
n.75+850G>A
dbSNP gnomAD v3 gnomAD v4
2g.223053124G>CCA431669481KCNE4c.294G>C (p.Val98=)
c.447G>C (p.Val149=)
n.75+850G>C
2g.223053124G=CA1330889644KCNE4c.294G= (p.Val98=)
c.447G= (p.Val149=)
n.75+850G=
2g.223053124G>TCA431669483KCNE4c.294G>T (p.Val98=)
c.447G>T (p.Val149=)
n.75+850G>T
2g.223053125C>ACA351121235KCNE4c.295C>A (p.Pro99Thr)
c.448C>A (p.Pro150Thr)
n.75+851C>A
2g.223053125C>GCA351121237KCNE4c.295C>G (p.Pro99Ala)
c.448C>G (p.Pro150Ala)
n.75+851C>G
2g.223053125C>TCA351121236KCNE4c.295C>T (p.Pro99Ser)
c.448C>T (p.Pro150Ser)
n.75+851C>T
gnomAD v4
2g.223053126C>ACA351121238KCNE4c.296C>A (p.Pro99His)
c.449C>A (p.Pro150His)
n.75+852C>A
2g.223053126C>GCA351121239KCNE4c.296C>G (p.Pro99Arg)
c.449C>G (p.Pro150Arg)
n.75+852C>G
2g.223053126C>TCA351121240KCNE4c.296C>T (p.Pro99Leu)
c.449C>T (p.Pro150Leu)
n.75+852C>T
2g.223053127C>ACA431669484KCNE4c.297C>A (p.Pro99=)
c.450C>A (p.Pro150=)
n.75+853C>A
2g.223053127C=CA1330889645KCNE4c.297C= (p.Pro99=)
c.450C= (p.Pro150=)
n.75+853C=
2g.223053127C>GCA431669486KCNE4c.297C>G (p.Pro99=)
c.450C>G (p.Pro150=)
n.75+853C>G
2g.223053127C>TCA66396448KCNE4c.297C>T (p.Pro99=)
c.450C>T (p.Pro150=)
n.75+853C>T
dbSNP gnomAD v4
2g.223053128C>ACA351121241KCNE4c.298C>A (p.Leu100Met)
c.451C>A (p.Leu151Met)
n.75+854C>A
dbSNP gnomAD v4
2g.223053128C=CA1330889646KCNE4c.298C= (p.Leu100=)
c.451C= (p.Leu151=)
n.75+854C=
2g.223053128C>GCA351121242KCNE4c.298C>G (p.Leu100Val)
c.451C>G (p.Leu151Val)
n.75+854C>G
gnomAD v4
2g.223053128C>TCA431669487KCNE4c.298C>T (p.Leu100=)
c.451C>T (p.Leu151=)
n.75+854C>T
2g.223053129T>ACA351121243KCNE4c.299T>A (p.Leu100Gln)
c.452T>A (p.Leu151Gln)
n.75+855T>A
2g.223053129T>CCA351121244KCNE4c.299T>C (p.Leu100Pro)
c.452T>C (p.Leu151Pro)
n.75+855T>C
dbSNP
2g.223053129T>GCA351121245KCNE4c.299T>G (p.Leu100Arg)
c.452T>G (p.Leu151Arg)
n.75+855T>G
2g.223053129T=CA1330889647KCNE4c.299T= (p.Leu100=)
c.452T= (p.Leu151=)
n.75+855T=
2g.223053130G>ACA431669488KCNE4c.300G>A (p.Leu100=)
c.453G>A (p.Leu151=)
n.75+856G>A
2g.223053130G>CCA431669491KCNE4c.300G>C (p.Leu100=)
c.453G>C (p.Leu151=)
n.75+856G>C
2g.223053130G>TCA431669492KCNE4c.300G>T (p.Leu100=)
c.453G>T (p.Leu151=)
n.75+856G>T
2g.223053131A>CCA351121246KCNE4c.301A>C (p.Met101Leu)
c.454A>C (p.Met152Leu)
n.75+857A>C
2g.223053131A>GCA351121247KCNE4c.301A>G (p.Met101Val)
c.454A>G (p.Met152Val)
n.75+857A>G
2g.223053131A>TCA351121248KCNE4c.301A>T (p.Met101Leu)
c.454A>T (p.Met152Leu)
n.75+857A>T
2g.223053132T>ACA351121249KCNE4c.302T>A (p.Met101Lys)
c.455T>A (p.Met152Lys)
n.75+858T>A
2g.223053132T>CCA2137835KCNE4c.302T>C (p.Met101Thr)
c.455T>C (p.Met152Thr)
n.75+858T>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.223053132T>GCA2137836KCNE4c.302T>G (p.Met101Arg)
c.455T>G (p.Met152Arg)
n.75+858T>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.223053132T=CA1330889648KCNE4c.302T= (p.Met101=)
c.455T= (p.Met152=)
n.75+858T=
2g.223053133G>ACA351121250KCNE4c.303G>A (p.Met101Ile)
c.456G>A (p.Met152Ile)
n.75+859G>A
2g.223053133G>CCA351121251KCNE4c.303G>C (p.Met101Ile)
c.456G>C (p.Met152Ile)
n.75+859G>C
2g.223053133G>TCA351121252KCNE4c.303G>T (p.Met101Ile)
c.456G>T (p.Met152Ile)
n.75+859G>T
2g.223053134C>ACA351121253KCNE4c.304C>A (p.Leu102Met)
c.457C>A (p.Leu153Met)
n.75+860C>A
2g.223053134C=CA1330889649KCNE4c.304C= (p.Leu102=)
c.457C= (p.Leu153=)
n.75+860C=
2g.223053134C>GCA351121254KCNE4c.304C>G (p.Leu102Val)
c.457C>G (p.Leu153Val)
n.75+860C>G
2g.223053134C>TCA431669496KCNE4c.304C>T (p.Leu102=)
c.457C>T (p.Leu153=)
n.75+860C>T
dbSNP gnomAD v4
2g.223053135T>ACA351121255KCNE4c.305T>A (p.Leu102Gln)
c.458T>A (p.Leu153Gln)
n.75+861T>A
2g.223053135T>CCA351121256KCNE4c.305T>C (p.Leu102Pro)
c.458T>C (p.Leu153Pro)
n.75+861T>C
2g.223053135T>GCA351121257KCNE4c.305T>G (p.Leu102Arg)
c.458T>G (p.Leu153Arg)
n.75+861T>G
2g.223053136G>ACA431669497KCNE4c.306G>A (p.Leu102=)
c.459G>A (p.Leu153=)
n.75+862G>A
2g.223053136G>CCA431669498KCNE4c.306G>C (p.Leu102=)
c.459G>C (p.Leu153=)
n.75+862G>C
2g.223053136G>TCA431669499KCNE4c.306G>T (p.Leu102=)
c.459G>T (p.Leu153=)
n.75+862G>T
2g.223053137A>CCA351121258KCNE4c.307A>C (p.Asn103His)
c.460A>C (p.Asn154His)
n.75+863A>C
2g.223053137A>GCA351121259KCNE4c.307A>G (p.Asn103Asp)
c.460A>G (p.Asn154Asp)
n.75+863A>G
2g.223053137A>TCA351121260KCNE4c.307A>T (p.Asn103Tyr)
c.460A>T (p.Asn154Tyr)
n.75+863A>T
2g.223053138A>CCA351121263KCNE4c.308A>C (p.Asn103Thr)
c.461A>C (p.Asn154Thr)
n.75+864A>C
2g.223053138A>GCA351121262KCNE4c.308A>G (p.Asn103Ser)
c.461A>G (p.Asn154Ser)
n.75+864A>G
2g.223053138A>TCA351121261KCNE4c.308A>T (p.Asn103Ile)
c.461A>T (p.Asn154Ile)
n.75+864A>T
2g.223053139C>ACA351121264KCNE4c.309C>A (p.Asn103Lys)
c.462C>A (p.Asn154Lys)
n.75+865C>A
2g.223053139C>GCA351121265KCNE4c.309C>G (p.Asn103Lys)
c.462C>G (p.Asn154Lys)
n.75+865C>G
2g.223053139C>TCA431669501KCNE4c.309C>T (p.Asn103=)
c.462C>T (p.Asn154=)
n.75+865C>T
2g.223053140A>CCA351121266KCNE4c.310A>C (p.Met104Leu)
c.463A>C (p.Met155Leu)
n.75+866A>C
2g.223053140A>GCA351121267KCNE4c.310A>G (p.Met104Val)
c.463A>G (p.Met155Val)
n.75+866A>G
2g.223053140A>TCA351121268KCNE4c.310A>T (p.Met104Leu)
c.463A>T (p.Met155Leu)
n.75+866A>T
2g.223053141T>ACA351121269KCNE4c.311T>A (p.Met104Lys)
c.464T>A (p.Met155Lys)
n.75+867T>A
2g.223053141T>CCA351121270KCNE4c.311T>C (p.Met104Thr)
c.464T>C (p.Met155Thr)
n.75+867T>C
COSMIC
2g.223053141T>GCA351121271KCNE4c.311T>G (p.Met104Arg)
c.464T>G (p.Met155Arg)
n.75+867T>G
2g.223053142G>ACA351121272KCNE4c.312G>A (p.Met104Ile)
c.465G>A (p.Met155Ile)
n.75+868G>A
dbSNP gnomAD v3 gnomAD v4
2g.223053142G>CCA351121273KCNE4c.312G>C (p.Met104Ile)
c.465G>C (p.Met155Ile)
n.75+868G>C
2g.223053142G=CA1330889650KCNE4c.312G= (p.Met104=)
c.465G= (p.Met155=)
n.75+868G=
2g.223053142G>TCA351121274KCNE4c.312G>T (p.Met104Ile)
c.465G>T (p.Met155Ile)
n.75+868G>T
dbSNP gnomAD v4
2g.223053143C>ACA351121275KCNE4c.313C>A (p.Leu105Met)
c.466C>A (p.Leu156Met)
n.75+869C>A
2g.223053143C>GCA351121276KCNE4c.313C>G (p.Leu105Val)
c.466C>G (p.Leu156Val)
n.75+869C>G
2g.223053143C>TCA431669503KCNE4c.313C>T (p.Leu105=)
c.466C>T (p.Leu156=)
n.75+869C>T
gnomAD v4
2g.223053144T>ACA351121279KCNE4c.314T>A (p.Leu105Gln)
c.467T>A (p.Leu156Gln)
n.75+870T>A
2g.223053144T>CCA351121278KCNE4c.314T>C (p.Leu105Pro)
c.467T>C (p.Leu156Pro)
n.75+870T>C
dbSNP gnomAD v3 gnomAD v4
2g.223053144T>GCA351121277KCNE4c.314T>G (p.Leu105Arg)
c.467T>G (p.Leu156Arg)
n.75+870T>G
2g.223053144T=CA1330889651KCNE4c.314T= (p.Leu105=)
c.467T= (p.Leu156=)
n.75+870T=
2g.223053145G>ACA431669505KCNE4c.315G>A (p.Leu105=)
c.468G>A (p.Leu156=)
n.75+871G>A
dbSNP gnomAD v2 gnomAD v4
2g.223053145G>CCA431669506KCNE4c.315G>C (p.Leu105=)
c.468G>C (p.Leu156=)
n.75+871G>C
2g.223053145G=CA1330889652KCNE4c.315G= (p.Leu105=)
c.468G= (p.Leu156=)
n.75+871G=
2g.223053145G>TCA431669508KCNE4c.315G>T (p.Leu105=)
c.468G>T (p.Leu156=)
n.75+871G>T
2g.223053146C>ACA351121281KCNE4c.316C>A (p.Gln106Lys)
c.469C>A (p.Gln157Lys)
n.75+872C>A
2g.223053146C>GCA351121280KCNE4c.316C>G (p.Gln106Glu)
c.469C>G (p.Gln157Glu)
n.75+872C>G
2g.223053146C>TCA351121282KCNE4c.316C>T (p.Gln106Ter)
c.469C>T (p.Gln157Ter)
n.75+872C>T
2g.223053147A>CCA351121283KCNE4c.317A>C (p.Gln106Pro)
c.470A>C (p.Gln157Pro)
n.75+873A>C
2g.223053147A>GCA351121284KCNE4c.317A>G (p.Gln106Arg)
c.470A>G (p.Gln157Arg)
n.75+873A>G
2g.223053147A>TCA351121285KCNE4c.317A>T (p.Gln106Leu)
c.470A>T (p.Gln157Leu)
n.75+873A>T
2g.223053148G>ACA431669509KCNE4c.318G>A (p.Gln106=)
c.471G>A (p.Gln157=)
n.75+874G>A
2g.223053148G>CCA351121286KCNE4c.318G>C (p.Gln106His)
c.471G>C (p.Gln157His)
n.75+874G>C
2g.223053148G>TCA351121287KCNE4c.318G>T (p.Gln106His)
c.471G>T (p.Gln157His)
n.75+874G>T
2g.223053149G>ACA351121288KCNE4c.319G>A (p.Glu107Lys)
c.472G>A (p.Glu158Lys)
n.75+875G>A
COSMIC
2g.223053149G>CCA351121289KCNE4c.319G>C (p.Glu107Gln)
c.472G>C (p.Glu158Gln)
n.75+875G>C
gnomAD v4
2g.223053149G>TCA351121290KCNE4c.319G>T (p.Glu107Ter)
c.472G>T (p.Glu158Ter)
n.75+875G>T
2g.223053150A=CA1330889653KCNE4c.320A= (p.Glu107=)
c.473A= (p.Glu158=)
n.75+876A=
2g.223053150A>CCA351121291KCNE4c.320A>C (p.Glu107Ala)
c.473A>C (p.Glu158Ala)
n.75+876A>C
2g.223053150A>GCA2137837KCNE4c.320A>G (p.Glu107Gly)
c.473A>G (p.Glu158Gly)
n.75+876A>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.223053150A>TCA351121292KCNE4c.320A>T (p.Glu107Val)
c.473A>T (p.Glu158Val)
n.75+876A>T
2g.223053151G>ACA431669511KCNE4c.321G>A (p.Glu107=)
c.474G>A (p.Glu158=)
n.75+877G>A
dbSNP
2g.223053151G>CCA351121293KCNE4c.321G>C (p.Glu107Asp)
c.474G>C (p.Glu158Asp)
n.75+877G>C
gnomAD v4
2g.223053151G=CA1330889654KCNE4c.321G= (p.Glu107=)
c.474G= (p.Glu158=)
n.75+877G=
2g.223053151G>TCA351121294KCNE4c.321G>T (p.Glu107Asp)
c.474G>T (p.Glu158Asp)
n.75+877G>T
2g.223053152A>CCA351121297KCNE4c.322A>C (p.Ser108Arg)
c.475A>C (p.Ser159Arg)
n.75+878A>C
2g.223053152A>GCA351121295KCNE4c.322A>G (p.Ser108Gly)
c.475A>G (p.Ser159Gly)
n.75+878A>G
2g.223053152A>TCA351121296KCNE4c.322A>T (p.Ser108Cys)
c.475A>T (p.Ser159Cys)
n.75+878A>T
2g.223053153G>ACA351121298KCNE4c.323G>A (p.Ser108Asn)
c.476G>A (p.Ser159Asn)
n.75+879G>A
dbSNP gnomAD v3 gnomAD v4
2g.223053153G>CCA351121299KCNE4c.323G>C (p.Ser108Thr)
c.476G>C (p.Ser159Thr)
n.75+879G>C
2g.223053153G=CA1330889655KCNE4c.323G= (p.Ser108=)
c.476G= (p.Ser159=)
n.75+879G=
2g.223053153G>TCA351121300KCNE4c.323G>T (p.Ser108Ile)
c.476G>T (p.Ser159Ile)
n.75+879G>T
2g.223053154C>ACA351121301KCNE4c.324C>A (p.Ser108Arg)
c.477C>A (p.Ser159Arg)
n.75+880C>A
gnomAD v4
2g.223053154C=CA1330889656KCNE4c.324C= (p.Ser108=)
c.477C= (p.Ser159=)
n.75+880C=
2g.223053154C>GCA351121302KCNE4c.324C>G (p.Ser108Arg)
c.477C>G (p.Ser159Arg)
n.75+880C>G
2g.223053154C>TCA431669513KCNE4c.324C>T (p.Ser108=)
c.477C>T (p.Ser159=)
n.75+880C>T
dbSNP gnomAD v4
2g.223053155G>ACA351121303KCNE4c.325G>A (p.Val109Met)
c.478G>A (p.Val160Met)
n.75+881G>A
dbSNP gnomAD v4
2g.223053155G>CCA351121304KCNE4c.325G>C (p.Val109Leu)
c.478G>C (p.Val160Leu)
n.75+881G>C
2g.223053155G=CA1330889657KCNE4c.325G= (p.Val109=)
c.478G= (p.Val160=)
n.75+881G=
2g.223053155G>TCA351121305KCNE4c.325G>T (p.Val109Leu)
c.478G>T (p.Val160Leu)
n.75+881G>T
gnomAD v4
2g.223053156T>ACA351121306KCNE4c.326T>A (p.Val109Glu)
c.479T>A (p.Val160Glu)
n.75+882T>A
2g.223053156T>CCA351121307KCNE4c.326T>C (p.Val109Ala)
c.479T>C (p.Val160Ala)
n.75+882T>C
gnomAD v4
2g.223053156T>GCA351121308KCNE4c.326T>G (p.Val109Gly)
c.479T>G (p.Val160Gly)
n.75+882T>G
2g.223053157G>ACA431669515KCNE4c.327G>A (p.Val109=)
c.480G>A (p.Val160=)
n.75+883G>A
2g.223053157G>CCA431669516KCNE4c.327G>C (p.Val109=)
c.480G>C (p.Val160=)
n.75+883G>C
2g.223053157G>TCA431669518KCNE4c.327G>T (p.Val109=)
c.480G>T (p.Val160=)
n.75+883G>T
2g.223053158G>ACA351121311KCNE4c.328G>A (p.Ala110Thr)
c.481G>A (p.Ala161Thr)
n.75+884G>A
2g.223053158G>CCA351121310KCNE4c.328G>C (p.Ala110Pro)
c.481G>C (p.Ala161Pro)
n.75+884G>C
gnomAD v4
2g.223053158G>TCA351121309KCNE4c.328G>T (p.Ala110Ser)
c.481G>T (p.Ala161Ser)
n.75+884G>T
2g.223053159C>ACA351121312KCNE4c.329C>A (p.Ala110Glu)
c.482C>A (p.Ala161Glu)
n.75+885C>A
2g.223053159C=CA1330889658KCNE4c.329C= (p.Ala110=)
c.482C= (p.Ala161=)
n.75+885C=
2g.223053159C>GCA351121313KCNE4c.329C>G (p.Ala110Gly)
c.482C>G (p.Ala161Gly)
n.75+885C>G
2g.223053159C>TCA351121314KCNE4c.329C>T (p.Ala110Val)
c.482C>T (p.Ala161Val)
n.75+885C>T
dbSNP gnomAD v4
2g.223053160G>ACA431669520KCNE4c.330G>A (p.Ala110=)
c.483G>A (p.Ala161=)
n.75+886G>A
gnomAD v4 COSMIC
2g.223053160G>CCA431669521KCNE4c.330G>C (p.Ala110=)
c.483G>C (p.Ala161=)
n.75+886G>C
2g.223053160G=CA1330889659KCNE4c.330G= (p.Ala110=)
c.483G= (p.Ala161=)
n.75+886G=
2g.223053160G>TCA431669522KCNE4c.330G>T (p.Ala110=)
c.483G>T (p.Ala161=)
n.75+886G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.223053161C>ACA351121315KCNE4c.331C>A (p.Pro111Thr)
c.484C>A (p.Pro162Thr)
n.75+887C>A
2g.223053161C>GCA351121316KCNE4c.331C>G (p.Pro111Ala)
c.484C>G (p.Pro162Ala)
n.75+887C>G
2g.223053161C>TCA351121317KCNE4c.331C>T (p.Pro111Ser)
c.484C>T (p.Pro162Ser)
n.75+887C>T
2g.223053162C>ACA351121318KCNE4c.332C>A (p.Pro111His)
c.485C>A (p.Pro162His)
n.75+888C>A
2g.223053162C>GCA351121319KCNE4c.332C>G (p.Pro111Arg)
c.485C>G (p.Pro162Arg)
n.75+888C>G
2g.223053162C>TCA351121320KCNE4c.332C>T (p.Pro111Leu)
c.485C>T (p.Pro162Leu)
n.75+888C>T
2g.223053163C>ACA431669525KCNE4c.333C>A (p.Pro111=)
c.486C>A (p.Pro162=)
n.75+889C>A
2g.223053163C=CA1330889660KCNE4c.333C= (p.Pro111=)
c.486C= (p.Pro162=)
n.75+889C=
2g.223053163C>GCA2137838KCNE4c.333C>G (p.Pro111=)
c.486C>G (p.Pro162=)
n.75+889C>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.223053163C>TCA431669524KCNE4c.333C>T (p.Pro111=)
c.486C>T (p.Pro162=)
n.75+889C>T
dbSNP gnomAD v2 gnomAD v4
2g.223053164G>ACA2137839KCNE4c.334G>A (p.Ala112Thr)
c.487G>A (p.Ala163Thr)
n.75+890G>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.223053164G>CCA351121321KCNE4c.334G>C (p.Ala112Pro)
c.487G>C (p.Ala163Pro)
n.75+890G>C
2g.223053164G=CA1330889661KCNE4c.334G= (p.Ala112=)
c.487G= (p.Ala163=)
n.75+890G=
2g.223053164G>TCA351121322KCNE4c.334G>T (p.Ala112Ser)
c.487G>T (p.Ala163Ser)
n.75+890G>T
ClinVar
2g.223053165C>ACA351121325KCNE4c.335C>A (p.Ala112Glu)
c.488C>A (p.Ala163Glu)
n.75+891C>A
2g.223053165C>GCA351121323KCNE4c.335C>G (p.Ala112Gly)
c.488C>G (p.Ala163Gly)
n.75+891C>G
2g.223053165C>TCA351121324KCNE4c.335C>T (p.Ala112Val)
c.488C>T (p.Ala163Val)
n.75+891C>T
gnomAD v3 gnomAD v4
2g.223053166G>ACA431669527KCNE4c.336G>A (p.Ala112=)
c.489G>A (p.Ala163=)
n.75+892G>A
dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.223053166G>CCA431669528KCNE4c.336G>C (p.Ala112=)
c.489G>C (p.Ala163=)
n.75+892G>C
2g.223053166G=CA1330889662KCNE4c.336G= (p.Ala112=)
c.489G= (p.Ala163=)
n.75+892G=
2g.223053166G>TCA2137840KCNE4c.336G>T (p.Ala112=)
c.489G>T (p.Ala163=)
n.75+892G>T
dbSNP ExAC gnomAD v2 gnomAD v4
2g.223053167C>ACA351121326KCNE4c.337C>A (p.Leu113Met)
c.490C>A (p.Leu164Met)
n.75+893C>A
2g.223053167C=CA1330889663KCNE4c.337C= (p.Leu113=)
c.490C= (p.Leu164=)
n.75+893C=
2g.223053167C>GCA351121327KCNE4c.337C>G (p.Leu113Val)
c.490C>G (p.Leu164Val)
n.75+893C>G
2g.223053167C>TCA431669529KCNE4c.337C>T (p.Leu113=)
c.490C>T (p.Leu164=)
n.75+893C>T
dbSNP gnomAD v2 gnomAD v4
2g.223053168T>ACA351121328KCNE4c.338T>A (p.Leu113Gln)
c.491T>A (p.Leu164Gln)
n.75+894T>A
2g.223053168T>CCA351121329KCNE4c.338T>C (p.Leu113Pro)
c.491T>C (p.Leu164Pro)
n.75+894T>C
2g.223053168T>GCA351121330KCNE4c.338T>G (p.Leu113Arg)
c.491T>G (p.Leu164Arg)
n.75+894T>G
2g.223053169G>ACA66396449KCNE4c.339G>A (p.Leu113=)
c.492G>A (p.Leu164=)
n.75+895G>A
dbSNP gnomAD v2 gnomAD v4
2g.223053169G>CCA431669531KCNE4c.339G>C (p.Leu113=)
c.492G>C (p.Leu164=)
n.75+895G>C
2g.223053169G=CA1330889664KCNE4c.339G= (p.Leu113=)
c.492G= (p.Leu164=)
n.75+895G=
2g.223053169G>TCA431669530KCNE4c.339G>T (p.Leu113=)
c.492G>T (p.Leu164=)
n.75+895G>T
2g.223053170T>ACA351121331KCNE4c.340T>A (p.Ser114Thr)
c.493T>A (p.Ser165Thr)
n.75+896T>A
2g.223053170T>CCA351121332KCNE4c.340T>C (p.Ser114Pro)
c.493T>C (p.Ser165Pro)
n.75+896T>C
dbSNP
2g.223053170T>GCA351121333KCNE4c.340T>G (p.Ser114Ala)
c.493T>G (p.Ser165Ala)
n.75+896T>G
2g.223053171C>ACA351121334KCNE4c.341C>A (p.Ser114Tyr)
c.494C>A (p.Ser165Tyr)
n.75+897C>A
2g.223053171C=CA1330889665KCNE4c.341C= (p.Ser114=)
c.494C= (p.Ser165=)
n.75+897C=
2g.223053171C>GCA351121335KCNE4c.341C>G (p.Ser114Cys)
c.494C>G (p.Ser165Cys)
n.75+897C>G
dbSNP gnomAD v2
2g.223053171C>TCA351121336KCNE4c.341C>T (p.Ser114Phe)
c.494C>T (p.Ser165Phe)
n.75+897C>T
2g.223053172C>ACA431669532KCNE4c.342C>A (p.Ser114=)
c.495C>A (p.Ser165=)
n.75+898C>A
2g.223053172C=CA1330889666KCNE4c.342C= (p.Ser114=)
c.495C= (p.Ser165=)
n.75+898C=
2g.223053172C>GCA431669533KCNE4c.342C>G (p.Ser114=)
c.495C>G (p.Ser165=)
n.75+898C>G
2g.223053172C>TCA431669534KCNE4c.342C>T (p.Ser114=)
c.495C>T (p.Ser165=)
n.75+898C>T
dbSNP gnomAD v4
2g.223053173T>ACA351121338KCNE4c.343T>A (p.Cys115Ser)
c.496T>A (p.Cys166Ser)
n.75+899T>A
2g.223053173T>CCA351121339KCNE4c.343T>C (p.Cys115Arg)
c.496T>C (p.Cys166Arg)
n.75+899T>C
gnomAD v4
2g.223053173T>GCA351121337KCNE4c.343T>G (p.Cys115Gly)
c.496T>G (p.Cys166Gly)
n.75+899T>G

Number of alleles fetched