Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17387640A>CCA379773595KCNJ11c.191T>G (p.Val64Gly)
c.452T>G (p.Val151Gly)
n.610T>G
11g.17387640A>GCA379773598KCNJ11c.191T>C (p.Val64Ala)
c.452T>C (p.Val151Ala)
n.610T>C
 gnomAD v4
11g.17387640A>TCA379773602KCNJ11c.191T>A (p.Val64Glu)
c.452T>A (p.Val151Glu)
n.610T>A
11g.17387641C>ACA379773603KCNJ11c.190G>T (p.Val64Leu)
c.451G>T (p.Val151Leu)
n.609G>T
11g.17387641C=CA1955119342KCNJ11c.190G= (p.Val64=)
c.451G= (p.Val151=)
n.609G=
11g.17387641C>GCA379773606KCNJ11c.190G>C (p.Val64Leu)
c.451G>C (p.Val151Leu)
n.609G>C
11g.17387641C>TCA5902288KCNJ11c.190G>A (p.Val64Met)
c.451G>A (p.Val151Met)
n.609G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.17387642G>ACA5902289KCNJ11c.189C>T (p.Ile63=)
c.450C>T (p.Ile150=)
n.608C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387642G>CCA379773624KCNJ11c.189C>G (p.Ile63Met)
c.450C>G (p.Ile150Met)
n.608C>G
11g.17387642G=CA1955119343KCNJ11c.189C= (p.Ile63=)
c.450C= (p.Ile150=)
n.608C=
11g.17387642G>TCA473515544KCNJ11c.189C>A (p.Ile63=)
c.450C>A (p.Ile150=)
n.608C>A
11g.17387643A=CA1955119344KCNJ11c.221T=
c.188T= (p.Ile63=)
c.449T= (p.Ile150=)
c.466T=
n.607T=
11g.17387643A>CCA379773628KCNJ11c.221T>G
c.188T>G (p.Ile63Ser)
c.449T>G (p.Ile150Ser)
c.466T>G
n.607T>G
11g.17387643A>GCA379773630KCNJ11c.221T>C
c.188T>C (p.Ile63Thr)
c.449T>C (p.Ile150Thr)
c.466T>C
n.607T>C
 dbSNP
11g.17387643A>TCA379773633KCNJ11c.221T>A
c.188T>A (p.Ile63Asn)
c.449T>A (p.Ile150Asn)
c.466T>A
n.607T>A
11g.17387644_17387652dupCA2561859217KCNJ11c.180_188dup (p.Leu62_Ile63insMetIleLeu)
c.441_449dup (p.Leu149_Ile150insMetIleLeu)
n.599_607dup
11g.17387644T>ACA379773639KCNJ11c.220A>T
c.187A>T (p.Ile63Phe)
c.448A>T (p.Ile150Phe)
c.465A>T
n.606A>T
11g.17387644T>CCA379773641KCNJ11c.220A>G
c.187A>G (p.Ile63Val)
c.448A>G (p.Ile150Val)
c.465A>G
n.606A>G
 gnomAD v4
11g.17387644T>GCA379773640KCNJ11c.220A>C
c.187A>C (p.Ile63Leu)
c.448A>C (p.Ile150Leu)
c.465A>C
n.606A>C
11g.17387645G>ACA5902290KCNJ11c.219C>T (p.Leu73=)
c.186C>T (p.Leu62=)
c.447C>T (p.Leu149=)
c.464C>T
n.605C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387645G>CCA473515545KCNJ11c.219C>G (p.Leu73=)
c.186C>G (p.Leu62=)
c.447C>G (p.Leu149=)
c.464C>G
n.605C>G
11g.17387645G=CA1955119345KCNJ11c.219C= (p.Leu73=)
c.186C= (p.Leu62=)
c.447C= (p.Leu149=)
c.464C=
n.605C=
11g.17387645G>TCA473515546KCNJ11c.219C>A (p.Leu73=)
c.186C>A (p.Leu62=)
c.447C>A (p.Leu149=)
c.464C>A
n.605C>A
11g.17387646A>CCA379773647KCNJ11c.218T>G (p.Leu73Arg)
c.185T>G (p.Leu62Arg)
c.446T>G (p.Leu149Arg)
c.463T>G
n.604T>G
11g.17387646A>GCA379773660KCNJ11c.218T>C (p.Leu73Pro)
c.185T>C (p.Leu62Pro)
c.446T>C (p.Leu149Pro)
c.463T>C
n.604T>C
 gnomAD v4
11g.17387646A>TCA379773665KCNJ11c.218T>A (p.Leu73His)
c.185T>A (p.Leu62His)
c.446T>A (p.Leu149His)
c.463T>A
n.604T>A
11g.17387647G>ACA379773668KCNJ11c.217C>T (p.Leu73Phe)
c.184C>T (p.Leu62Phe)
c.445C>T (p.Leu149Phe)
c.462C>T
n.603C>T
11g.17387647G>CCA379773671KCNJ11c.217C>G (p.Leu73Val)
c.184C>G (p.Leu62Val)
c.445C>G (p.Leu149Val)
c.462C>G
n.603C>G
11g.17387647G>TCA379773675KCNJ11c.217C>A (p.Leu73Ile)
c.184C>A (p.Leu62Ile)
c.445C>A (p.Leu149Ile)
c.462C>A
n.603C>A
11g.17387648G>ACA473515547KCNJ11c.216C>T (p.Ile72=)
c.183C>T (p.Ile61=)
c.444C>T (p.Ile148=)
c.461C>T
n.602C>T
 gnomAD v4
11g.17387648G>CCA379773680KCNJ11c.216C>G (p.Ile72Met)
c.183C>G (p.Ile61Met)
c.444C>G (p.Ile148Met)
c.461C>G
n.602C>G
11g.17387648G>TCA473515548KCNJ11c.216C>A (p.Ile72=)
c.183C>A (p.Ile61=)
c.444C>A (p.Ile148=)
c.461C>A
n.602C>A
11g.17387649A>CCA379773682KCNJ11c.215T>G (p.Ile72Ser)
c.182T>G (p.Ile61Ser)
c.443T>G (p.Ile148Ser)
c.460T>G
n.601T>G
11g.17387649A>GCA379773683KCNJ11c.215T>C (p.Ile72Thr)
c.182T>C (p.Ile61Thr)
c.443T>C (p.Ile148Thr)
c.460T>C
n.601T>C
11g.17387649A>TCA379773684KCNJ11c.215T>A (p.Ile72Asn)
c.182T>A (p.Ile61Asn)
c.443T>A (p.Ile148Asn)
c.460T>A
n.601T>A
11g.17387650T>ACA379773688KCNJ11c.214A>T (p.Ile72Phe)
c.181A>T (p.Ile61Phe)
c.442A>T (p.Ile148Phe)
c.459A>T
n.600A>T
11g.17387650T>CCA379773696KCNJ11c.214A>G (p.Ile72Val)
c.181A>G (p.Ile61Val)
c.442A>G (p.Ile148Val)
c.459A>G
n.600A>G
11g.17387650T>GCA379773701KCNJ11c.214A>C (p.Ile72Leu)
c.181A>C (p.Ile61Leu)
c.442A>C (p.Ile148Leu)
c.459A>C
n.600A>C
11g.17387651C>ACA473515549KCNJ11c.213G>T (p.Leu71=)
c.180G>T (p.Leu60=)
c.441G>T (p.Leu147=)
c.458G>T
n.599G>T
 dbSNP
11g.17387651C>GCA473515550KCNJ11c.213G>C (p.Leu71=)
c.180G>C (p.Leu60=)
c.441G>C (p.Leu147=)
c.458G>C
n.599G>C
11g.17387651C>TCA473515551KCNJ11c.213G>A (p.Leu71=)
c.180G>A (p.Leu60=)
c.441G>A (p.Leu147=)
c.458G>A
n.599G>A
 gnomAD v4
11g.17387652A=CA1955119346KCNJ11c.212T= (p.Leu71=)
c.179T= (p.Leu60=)
c.440T= (p.Leu147=)
c.457T=
n.598T=
11g.17387652A>CCA379773712KCNJ11c.212T>G (p.Leu71Arg)
c.179T>G (p.Leu60Arg)
c.440T>G (p.Leu147Arg)
c.457T>G
n.598T>G
11g.17387652A>GCA254515KCNJ11c.212T>C (p.Leu71Pro)
c.179T>C (p.Leu60Pro)
c.440T>C (p.Leu147Pro)
c.457T>C
n.598T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387652A>TCA379773709KCNJ11c.212T>A (p.Leu71Gln)
c.179T>A (p.Leu60Gln)
c.440T>A (p.Leu147Gln)
c.457T>A
n.598T>A
11g.17387653G>ACA473515552KCNJ11c.211C>T (p.Leu71=)
c.178C>T (p.Leu60=)
c.439C>T (p.Leu147=)
c.456C>T
n.597C>T
11g.17387653G>CCA379773716KCNJ11c.211C>G (p.Leu71Val)
c.178C>G (p.Leu60Val)
c.439C>G (p.Leu147Val)
c.456C>G
n.597C>G
11g.17387653G>TCA379773717KCNJ11c.211C>A (p.Leu71Met)
c.178C>A (p.Leu60Met)
c.439C>A (p.Leu147Met)
c.456C>A
n.597C>A
11g.17387654delCA2612639023KCNJ11c.211del (p.Leu71Ter)
c.178del (p.Leu60Ter)
c.439del (p.Leu147Ter)
c.456del
n.597del
 gnomAD v4
11g.17387654G>ACA473515553KCNJ11c.210C>T (p.Ile70=)
c.177C>T (p.Ile59=)
c.438C>T (p.Ile146=)
c.455C>T
n.596C>T
11g.17387654G>CCA379773718KCNJ11c.210C>G (p.Ile70Met)
c.177C>G (p.Ile59Met)
c.438C>G (p.Ile146Met)
c.455C>G
n.596C>G
11g.17387654G>TCA473515554KCNJ11c.210C>A (p.Ile70=)
c.177C>A (p.Ile59=)
c.438C>A (p.Ile146=)
c.455C>A
n.596C>A
11g.17387655A=CA1955119347KCNJ11c.209T= (p.Ile70=)
c.176T= (p.Ile59=)
c.437T= (p.Ile146=)
c.454T=
n.595T=
11g.17387655A>CCA379773721KCNJ11c.209T>G (p.Ile70Ser)
c.176T>G (p.Ile59Ser)
c.437T>G (p.Ile146Ser)
c.454T>G
n.595T>G
11g.17387655A>GCA379773724KCNJ11c.209T>C (p.Ile70Thr)
c.176T>C (p.Ile59Thr)
c.437T>C (p.Ile146Thr)
c.454T>C
n.595T>C
11g.17387655A>TCA379773731KCNJ11c.209T>A (p.Ile70Asn)
c.176T>A (p.Ile59Asn)
c.437T>A (p.Ile146Asn)
c.454T>A
n.595T>A
 dbSNP gnomAD v2
11g.17387656T>ACA379773743KCNJ11c.208A>T (p.Ile70Phe)
c.175A>T (p.Ile59Phe)
c.436A>T (p.Ile146Phe)
c.453A>T
n.594A>T
11g.17387656T>CCA379773748KCNJ11c.208A>G (p.Ile70Val)
c.175A>G (p.Ile59Val)
c.436A>G (p.Ile146Val)
c.453A>G
n.594A>G
11g.17387656T>GCA379773752KCNJ11c.208A>C (p.Ile70Leu)
c.175A>C (p.Ile59Leu)
c.436A>C (p.Ile146Leu)
c.453A>C
n.594A>C
11g.17387657G>ACA473515556KCNJ11c.207C>T (p.Ala69=)
c.174C>T (p.Ala58=)
c.435C>T (p.Ala145=)
c.452C>T
n.593C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.17387657G>CCA473515557KCNJ11c.207C>G (p.Ala69=)
c.174C>G (p.Ala58=)
c.435C>G (p.Ala145=)
c.452C>G
n.593C>G
11g.17387657G=CA1955119348KCNJ11c.207C= (p.Ala69=)
c.174C= (p.Ala58=)
c.435C= (p.Ala145=)
c.452C=
n.593C=
11g.17387657G>TCA473515555KCNJ11c.207C>A (p.Ala69=)
c.174C>A (p.Ala58=)
c.435C>A (p.Ala145=)
c.452C>A
n.593C>A
 dbSNP gnomAD v4
11g.17387658G>ACA379773758KCNJ11c.206C>T (p.Ala69Val)
c.173C>T (p.Ala58Val)
c.434C>T (p.Ala145Val)
c.451C>T
n.592C>T
11g.17387658G>CCA379773762KCNJ11c.206C>G (p.Ala69Gly)
c.173C>G (p.Ala58Gly)
c.434C>G (p.Ala145Gly)
c.451C>G
n.592C>G
11g.17387658G>TCA379773766KCNJ11c.206C>A (p.Ala69Asp)
c.173C>A (p.Ala58Asp)
c.434C>A (p.Ala145Asp)
c.451C>A
n.592C>A
11g.17387659C>ACA379773768KCNJ11c.205G>T (p.Ala69Ser)
c.172G>T (p.Ala58Ser)
c.433G>T (p.Ala145Ser)
c.450G>T
n.591G>T
 ClinVar
11g.17387659C=CA1955119349KCNJ11c.205G= (p.Ala69=)
c.172G= (p.Ala58=)
c.433G= (p.Ala145=)
c.450G=
n.591G=
11g.17387659C>GCA379773770KCNJ11c.205G>C (p.Ala69Pro)
c.172G>C (p.Ala58Pro)
c.433G>C (p.Ala145Pro)
c.450G>C
n.591G>C
11g.17387659C>TCA379773769KCNJ11c.205G>A (p.Ala69Thr)
c.172G>A (p.Ala58Thr)
c.433G>A (p.Ala145Thr)
c.450G>A
n.591G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.17387660C>ACA473515560KCNJ11c.204G>T (p.Leu68=)
c.171G>T (p.Leu57=)
c.432G>T (p.Leu144=)
c.449G>T
n.590G>T
11g.17387660C>GCA473515558KCNJ11c.204G>C (p.Leu68=)
c.171G>C (p.Leu57=)
c.432G>C (p.Leu144=)
c.449G>C
n.590G>C
11g.17387660C>TCA473515559KCNJ11c.204G>A (p.Leu68=)
c.171G>A (p.Leu57=)
c.432G>A (p.Leu144=)
c.449G>A
n.590G>A
11g.17387661A>CCA379773777KCNJ11c.203T>G (p.Leu68Arg)
c.170T>G (p.Leu57Arg)
c.431T>G (p.Leu144Arg)
c.448T>G
n.589T>G
11g.17387661A>GCA379773780KCNJ11c.203T>C (p.Leu68Pro)
c.170T>C (p.Leu57Pro)
c.431T>C (p.Leu144Pro)
c.448T>C
n.589T>C
11g.17387661A>TCA379773784KCNJ11c.203T>A (p.Leu68Gln)
c.170T>A (p.Leu57Gln)
c.431T>A (p.Leu144Gln)
c.448T>A
n.589T>A
11g.17387662G>ACA473515561KCNJ11c.202C>T (p.Leu68=)
c.169C>T (p.Leu57=)
c.430C>T (p.Leu144=)
c.447C>T
n.588C>T
11g.17387662G>CCA379773788KCNJ11c.202C>G (p.Leu68Val)
c.169C>G (p.Leu57Val)
c.430C>G (p.Leu144Val)
c.447C>G
n.588C>G
 ClinVar dbSNP gnomAD v4
11g.17387662G=CA1955119350KCNJ11c.202C= (p.Leu68=)
c.169C= (p.Leu57=)
c.430C= (p.Leu144=)
c.447C=
n.588C=
11g.17387662G>TCA379773790KCNJ11c.202C>A (p.Leu68Met)
c.169C>A (p.Leu57Met)
c.430C>A (p.Leu144Met)
c.447C>A
n.588C>A
11g.17387663T>ACA473515562KCNJ11c.201A>T (p.Pro67=)
c.168A>T (p.Pro56=)
c.429A>T (p.Pro143=)
c.446A>T
n.587A>T
11g.17387663T>CCA473515564KCNJ11c.201A>G (p.Pro67=)
c.168A>G (p.Pro56=)
c.429A>G (p.Pro143=)
c.446A>G
n.587A>G
 dbSNP
11g.17387663T>GCA473515563KCNJ11c.201A>C (p.Pro67=)
c.168A>C (p.Pro56=)
c.429A>C (p.Pro143=)
c.446A>C
n.587A>C
11g.17387664G>ACA379773793KCNJ11c.200C>T (p.Pro67Leu)
c.167C>T (p.Pro56Leu)
c.428C>T (p.Pro143Leu)
c.445C>T
n.586C>T
 gnomAD v4
11g.17387664G>CCA379773796KCNJ11c.200C>G (p.Pro67Arg)
c.167C>G (p.Pro56Arg)
c.428C>G (p.Pro143Arg)
c.445C>G
n.586C>G
11g.17387664G>TCA379773802KCNJ11c.200C>A (p.Pro67Gln)
c.167C>A (p.Pro56Gln)
c.428C>A (p.Pro143Gln)
c.445C>A
n.586C>A
11g.17387665G>ACA379773807KCNJ11c.199C>T (p.Pro67Ser)
c.166C>T (p.Pro56Ser)
c.427C>T (p.Pro143Ser)
c.444C>T
n.585C>T
11g.17387665G>CCA379773810KCNJ11c.199C>G (p.Pro67Ala)
c.166C>G (p.Pro56Ala)
c.427C>G (p.Pro143Ala)
c.444C>G
n.585C>G
11g.17387665G>TCA379773816KCNJ11c.199C>A (p.Pro67Thr)
c.166C>A (p.Pro56Thr)
c.427C>A (p.Pro143Thr)
c.444C>A
n.585C>A
11g.17387666G>ACA473515565KCNJ11c.198C>T (p.Cys66=)
c.165C>T (p.Cys55=)
c.426C>T (p.Cys142=)
c.443C>T
n.584C>T
 dbSNP gnomAD v2 gnomAD v4
11g.17387666G>CCA379773820KCNJ11c.198C>G (p.Cys66Trp)
c.165C>G (p.Cys55Trp)
c.426C>G (p.Cys142Trp)
c.443C>G
n.584C>G
11g.17387666G=CA1955119351KCNJ11c.198C= (p.Cys66=)
c.165C= (p.Cys55=)
c.426C= (p.Cys142=)
c.443C=
n.584C=
11g.17387666G>TCA379773825KCNJ11c.198C>A (p.Cys66Ter)
c.165C>A (p.Cys55Ter)
c.426C>A (p.Cys142Ter)
c.443C>A
n.584C>A
11g.17387667C>ACA379773830KCNJ11c.197G>T (p.Cys66Phe)
c.164G>T (p.Cys55Phe)
c.425G>T (p.Cys142Phe)
c.442G>T
n.583G>T
11g.17387667C>GCA379773837KCNJ11c.197G>C (p.Cys66Ser)
c.164G>C (p.Cys55Ser)
c.425G>C (p.Cys142Ser)
c.442G>C
n.583G>C
11g.17387667C>TCA379773833KCNJ11c.197G>A (p.Cys66Tyr)
c.164G>A (p.Cys55Tyr)
c.425G>A (p.Cys142Tyr)
c.442G>A
n.583G>A
11g.17387668A>CCA379773842KCNJ11c.196T>G (p.Cys66Gly)
c.163T>G (p.Cys55Gly)
c.424T>G (p.Cys142Gly)
c.441T>G
n.582T>G
 gnomAD v4
11g.17387668A>GCA379773846KCNJ11c.196T>C (p.Cys66Arg)
c.163T>C (p.Cys55Arg)
c.424T>C (p.Cys142Arg)
c.441T>C
n.582T>C
11g.17387668A>TCA379773850KCNJ11c.196T>A (p.Cys66Ser)
c.163T>A (p.Cys55Ser)
c.424T>A (p.Cys142Ser)
c.441T>A
n.582T>A
11g.17387669C>ACA379773855KCNJ11c.195G>T (p.Glu65Asp)
c.162G>T (p.Glu54Asp)
c.423G>T (p.Glu141Asp)
c.440G>T
n.581G>T
11g.17387669C>GCA379773857KCNJ11c.195G>C (p.Glu65Asp)
c.162G>C (p.Glu54Asp)
c.423G>C (p.Glu141Asp)
c.440G>C
n.581G>C
11g.17387669C>TCA473515566KCNJ11c.195G>A (p.Glu65=)
c.162G>A (p.Glu54=)
c.423G>A (p.Glu141=)
c.440G>A
n.581G>A
11g.17387670T>ACA379773870KCNJ11c.194A>T (p.Glu65Val)
c.161A>T (p.Glu54Val)
c.422A>T (p.Glu141Val)
c.439A>T
n.580A>T
11g.17387670T>CCA379773876KCNJ11c.194A>G (p.Glu65Gly)
c.161A>G (p.Glu54Gly)
c.422A>G (p.Glu141Gly)
c.439A>G
n.580A>G
11g.17387670T>GCA379773883KCNJ11c.194A>C (p.Glu65Ala)
c.161A>C (p.Glu54Ala)
c.422A>C (p.Glu141Ala)
c.439A>C
n.580A>C
11g.17387671C>ACA379773886KCNJ11c.193G>T (p.Glu65Ter)
c.160G>T (p.Glu54Ter)
c.421G>T (p.Glu141Ter)
c.438G>T
n.579G>T
11g.17387671C>GCA379773887KCNJ11c.193G>C (p.Glu65Gln)
c.160G>C (p.Glu54Gln)
c.421G>C (p.Glu141Gln)
c.438G>C
n.579G>C
11g.17387671C>TCA379773888KCNJ11c.193G>A (p.Glu65Lys)
c.160G>A (p.Glu54Lys)
c.421G>A (p.Glu141Lys)
c.438G>A
n.579G>A
 gnomAD v4
11g.17387672C>ACA379773889KCNJ11c.192G>T (p.Glu64Asp)
c.159G>T (p.Glu53Asp)
c.420G>T (p.Glu140Asp)
c.437G>T
n.578G>T
11g.17387672C>GCA379773892KCNJ11c.192G>C (p.Glu64Asp)
c.159G>C (p.Glu53Asp)
c.420G>C (p.Glu140Asp)
c.437G>C
n.578G>C
11g.17387672C>TCA473515567KCNJ11c.192G>A (p.Glu64=)
c.159G>A (p.Glu53=)
c.420G>A (p.Glu140=)
c.437G>A
n.578G>A
 gnomAD v4
11g.17387673T>ACA379773896KCNJ11c.191A>T (p.Glu64Val)
c.158A>T (p.Glu53Val)
c.419A>T (p.Glu140Val)
c.436A>T
n.577A>T
11g.17387673T>CCA379773911KCNJ11c.191A>G (p.Glu64Gly)
c.158A>G (p.Glu53Gly)
c.419A>G (p.Glu140Gly)
c.436A>G
n.577A>G
11g.17387673T>GCA379773898KCNJ11c.191A>C (p.Glu64Ala)
c.158A>C (p.Glu53Ala)
c.419A>C (p.Glu140Ala)
c.436A>C
n.577A>C
11g.17387674C>ACA379773916KCNJ11c.190G>T (p.Glu64Ter)
c.157G>T (p.Glu53Ter)
c.418G>T (p.Glu140Ter)
c.435G>T
n.576G>T
11g.17387674C>GCA379773922KCNJ11c.190G>C (p.Glu64Gln)
c.157G>C (p.Glu53Gln)
c.418G>C (p.Glu140Gln)
c.435G>C
n.576G>C
11g.17387674C>TCA379773918KCNJ11c.190G>A (p.Glu64Lys)
c.157G>A (p.Glu53Lys)
c.418G>A (p.Glu140Lys)
c.435G>A
n.576G>A
 gnomAD v4 COSMIC
11g.17387675A>CCA473515568KCNJ11c.189T>G (p.Thr63=)
c.156T>G (p.Thr52=)
c.417T>G (p.Thr139=)
c.434T>G
n.575T>G
 gnomAD v4
11g.17387675A>GCA473515569KCNJ11c.189T>C (p.Thr63=)
c.156T>C (p.Thr52=)
c.417T>C (p.Thr139=)
c.434T>C
n.575T>C
 gnomAD v4
11g.17387675A>TCA473515570KCNJ11c.189T>A (p.Thr63=)
c.156T>A (p.Thr52=)
c.417T>A (p.Thr139=)
c.434T>A
n.575T>A
 COSMIC
11g.17387676G>ACA379773936KCNJ11c.188C>T (p.Thr63Ile)
c.155C>T (p.Thr52Ile)
c.416C>T (p.Thr139Ile)
c.433C>T
n.574C>T
11g.17387676G>CCA379773938KCNJ11c.188C>G (p.Thr63Ser)
c.155C>G (p.Thr52Ser)
c.416C>G (p.Thr139Ser)
c.433C>G
n.574C>G
11g.17387676G>TCA379773937KCNJ11c.188C>A (p.Thr63Asn)
c.155C>A (p.Thr52Asn)
c.416C>A (p.Thr139Asn)
c.433C>A
n.574C>A
11g.17387677T>ACA379773941KCNJ11c.187A>T (p.Thr63Ser)
c.154A>T (p.Thr52Ser)
c.415A>T (p.Thr139Ser)
c.432A>T
n.573A>T
11g.17387677T>CCA379773944KCNJ11c.187A>G (p.Thr63Ala)
c.154A>G (p.Thr52Ala)
c.415A>G (p.Thr139Ala)
c.432A>G
n.573A>G
11g.17387677T>GCA379773942KCNJ11c.187A>C (p.Thr63Pro)
c.154A>C (p.Thr52Pro)
c.415A>C (p.Thr139Pro)
c.432A>C
n.573A>C
11g.17387678C>ACA473515571KCNJ11c.186G>T (p.Val62=)
c.153G>T (p.Val51=)
c.414G>T (p.Val138=)
c.431G>T
n.572G>T
11g.17387678C>GCA473515573KCNJ11c.186G>C (p.Val62=)
c.153G>C (p.Val51=)
c.414G>C (p.Val138=)
c.431G>C
n.572G>C
11g.17387678C>TCA473515572KCNJ11c.186G>A (p.Val62=)
c.153G>A (p.Val51=)
c.414G>A (p.Val138=)
c.431G>A
n.572G>A
 gnomAD v4
11g.17387679A>CCA379773946KCNJ11c.185T>G (p.Val62Gly)
c.152T>G (p.Val51Gly)
c.413T>G (p.Val138Gly)
c.430T>G
n.571T>G
 gnomAD v4
11g.17387679A>GCA379773948KCNJ11c.185T>C (p.Val62Ala)
c.152T>C (p.Val51Ala)
c.413T>C (p.Val138Ala)
c.430T>C
n.571T>C
11g.17387679A>TCA379773950KCNJ11c.185T>A (p.Val62Glu)
c.152T>A (p.Val51Glu)
c.413T>A (p.Val138Glu)
c.430T>A
n.571T>A
11g.17387680C>ACA379773951KCNJ11c.184G>T (p.Val62Leu)
c.151G>T (p.Val51Leu)
c.412G>T (p.Val138Leu)
c.429G>T
n.570G>T
 ClinVar dbSNP
11g.17387680C=CA1955119352KCNJ11c.184G= (p.Val62=)
c.151G= (p.Val51=)
c.412G= (p.Val138=)
c.429G=
n.570G=
11g.17387680C>GCA379773952KCNJ11c.184G>C (p.Val62Leu)
c.151G>C (p.Val51Leu)
c.412G>C (p.Val138Leu)
c.429G>C
n.570G>C
11g.17387680C>TCA379773953KCNJ11c.184G>A (p.Val62Met)
c.151G>A (p.Val51Met)
c.412G>A (p.Val138Met)
c.429G>A
n.570G>A
 dbSNP
11g.17387681C>ACA379773954KCNJ11c.183G>T (p.Met61Ile)
c.150G>T (p.Met50Ile)
c.411G>T (p.Met137Ile)
c.428G>T
n.569G>T
11g.17387681C=CA1955119353KCNJ11c.183G= (p.Met61=)
c.150G= (p.Met50=)
c.411G= (p.Met137=)
c.428G=
n.569G=
11g.17387681C>GCA379773956KCNJ11c.183G>C (p.Met61Ile)
c.150G>C (p.Met50Ile)
c.411G>C (p.Met137Ile)
c.428G>C
n.569G>C
 dbSNP
11g.17387681C>TCA5902291KCNJ11c.183G>A (p.Met61Ile)
c.150G>A (p.Met50Ile)
c.411G>A (p.Met137Ile)
c.428G>A
n.569G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387682A>CCA379773961KCNJ11c.182T>G (p.Met61Arg)
c.149T>G (p.Met50Arg)
c.410T>G (p.Met137Arg)
c.427T>G
n.568T>G
11g.17387682A>GCA379773960KCNJ11c.182T>C (p.Met61Thr)
c.149T>C (p.Met50Thr)
c.410T>C (p.Met137Thr)
c.427T>C
n.568T>C
11g.17387682A>TCA379773959KCNJ11c.182T>A (p.Met61Lys)
c.149T>A (p.Met50Lys)
c.410T>A (p.Met137Lys)
c.427T>A
n.568T>A
11g.17387683T>ACA379773964KCNJ11c.181A>T (p.Met61Leu)
c.148A>T (p.Met50Leu)
c.409A>T (p.Met137Leu)
c.426A>T
n.567A>T
 COSMIC
11g.17387683T>CCA379773965KCNJ11c.181A>G (p.Met61Val)
c.148A>G (p.Met50Val)
c.409A>G (p.Met137Val)
c.426A>G
n.567A>G
11g.17387683T>GCA379773967KCNJ11c.181A>C (p.Met61Leu)
c.148A>C (p.Met50Leu)
c.409A>C (p.Met137Leu)
c.426A>C
n.567A>C
11g.17387684G>ACA473515574KCNJ11c.180C>T (p.Arg60=)
c.147C>T (p.Arg49=)
c.408C>T (p.Arg136=)
c.425C>T
n.566C>T
 ClinVar gnomAD v4
11g.17387684G>CCA473515575KCNJ11c.180C>G (p.Arg60=)
c.147C>G (p.Arg49=)
c.408C>G (p.Arg136=)
c.425C>G
n.566C>G
11g.17387684G>TCA473515576KCNJ11c.180C>A (p.Arg60=)
c.147C>A (p.Arg49=)
c.408C>A (p.Arg136=)
c.425C>A
n.566C>A
11g.17387685C>ACA379773968KCNJ11c.179G>T (p.Arg60Leu)
c.146G>T (p.Arg49Leu)
c.407G>T (p.Arg136Leu)
c.424G>T
n.565G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.17387685C=CA1955119354KCNJ11c.179G= (p.Arg60=)
c.146G= (p.Arg49=)
c.407G= (p.Arg136=)
c.424G=
n.565G=
11g.17387685C>GCA379773970KCNJ11c.179G>C (p.Arg60Pro)
c.146G>C (p.Arg49Pro)
c.407G>C (p.Arg136Pro)
c.424G>C
n.565G>C
11g.17387685C>TCA379773972KCNJ11c.179G>A (p.Arg60His)
c.146G>A (p.Arg49His)
c.407G>A (p.Arg136His)
c.424G>A
n.565G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.17387686G>ACA5902293KCNJ11c.178C>T (p.Arg60Cys)
c.145C>T (p.Arg49Cys)
c.406C>T (p.Arg136Cys)
c.423C>T
n.564C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387686G>CCA379773976KCNJ11c.178C>G (p.Arg60Gly)
c.145C>G (p.Arg49Gly)
c.406C>G (p.Arg136Gly)
c.423C>G
n.564C>G
11g.17387686G=CA1955119355KCNJ11c.178C= (p.Arg60=)
c.145C= (p.Arg49=)
c.406C= (p.Arg136=)
c.423C=
n.564C=
11g.17387686G>TCA379773977KCNJ11c.178C>A (p.Arg60Ser)
c.145C>A (p.Arg49Ser)
c.406C>A (p.Arg136Ser)
c.423C>A
n.564C>A
 ClinVar dbSNP
11g.17387687C>ACA5902294KCNJ11c.177G>T (p.Gly59=)
c.144G>T (p.Gly48=)
c.405G>T (p.Gly135=)
c.422G>T
n.563G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387687C=CA1955119356KCNJ11c.177G= (p.Gly59=)
c.144G= (p.Gly48=)
c.405G= (p.Gly135=)
c.422G=
n.563G=
11g.17387687C>GCA473515579KCNJ11c.177G>C (p.Gly59=)
c.144G>C (p.Gly48=)
c.405G>C (p.Gly135=)
c.422G>C
n.563G>C
 dbSNP gnomAD v3 gnomAD v4
11g.17387687C>TCA473515577KCNJ11c.177G>A (p.Gly59=)
c.144G>A (p.Gly48=)
c.405G>A (p.Gly135=)
c.422G>A
n.563G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17387692dupCA5902292KCNJ11c.177dup (p.Arg60AlafsTer5)
c.144dup (p.Arg49AlafsTer5)
c.405dup (p.Arg136AlafsTer5)
c.422dup
n.563dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387692delCA473515578KCNJ11c.177del (p.Arg60AlafsTer3)
c.144del (p.Arg49AlafsTer3)
c.405del (p.Arg136AlafsTer3)
c.422del
n.563del
 gnomAD v4 COSMIC
11g.17387688C>ACA379773983KCNJ11c.176G>T (p.Gly59Val)
c.143G>T (p.Gly48Val)
c.404G>T (p.Gly135Val)
c.421G>T
n.562G>T
11g.17387688C=CA1955119357KCNJ11c.176G= (p.Gly59=)
c.143G= (p.Gly48=)
c.404G= (p.Gly135=)
c.421G=
n.562G=
11g.17387688C>GCA379773984KCNJ11c.176G>C (p.Gly59Ala)
c.143G>C (p.Gly48Ala)
c.404G>C (p.Gly135Ala)
c.421G>C
n.562G>C
11g.17387688C>TCA5902295KCNJ11c.176G>A (p.Gly59Glu)
c.143G>A (p.Gly48Glu)
c.404G>A (p.Gly135Glu)
c.421G>A
n.562G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387689C>ACA379773987KCNJ11c.175G>T (p.Gly59Trp)
c.142G>T (p.Gly48Trp)
c.403G>T (p.Gly135Trp)
c.420G>T
n.561G>T
11g.17387689C>GCA379773989KCNJ11c.175G>C (p.Gly59Arg)
c.142G>C (p.Gly48Arg)
c.403G>C (p.Gly135Arg)
c.420G>C
n.561G>C
11g.17387689C>TCA379773990KCNJ11c.175G>A (p.Gly59Arg)
c.142G>A (p.Gly48Arg)
c.403G>A (p.Gly135Arg)
c.420G>A
n.561G>A
11g.17387690C>ACA473515580KCNJ11c.174G>T (p.Gly58=)
c.141G>T (p.Gly47=)
c.402G>T (p.Gly134=)
c.419G>T
n.560G>T
11g.17387690C>GCA473515581KCNJ11c.174G>C (p.Gly58=)
c.141G>C (p.Gly47=)
c.402G>C (p.Gly134=)
c.419G>C
n.560G>C
11g.17387690C>TCA473515582KCNJ11c.174G>A (p.Gly58=)
c.141G>A (p.Gly47=)
c.402G>A (p.Gly134=)
c.419G>A
n.560G>A
11g.17387691C>ACA379773993KCNJ11c.173G>T (p.Gly58Val)
c.140G>T (p.Gly47Val)
c.401G>T (p.Gly134Val)
c.418G>T
n.559G>T
11g.17387691C=CA1955119358KCNJ11c.173G= (p.Gly58=)
c.140G= (p.Gly47=)
c.401G= (p.Gly134=)
c.418G=
n.559G=
11g.17387691C>GCA379773995KCNJ11c.173G>C (p.Gly58Ala)
c.140G>C (p.Gly47Ala)
c.401G>C (p.Gly134Ala)
c.418G>C
n.559G>C
 dbSNP
11g.17387691C>TCA379773996KCNJ11c.173G>A (p.Gly58Glu)
c.140G>A (p.Gly47Glu)
c.401G>A (p.Gly134Glu)
c.418G>A
n.559G>A
11g.17387692C>ACA379773999KCNJ11c.172G>T (p.Gly58Trp)
c.139G>T (p.Gly47Trp)
c.400G>T (p.Gly134Trp)
c.417G>T
n.558G>T
 gnomAD v4
11g.17387692C>GCA379774001KCNJ11c.172G>C (p.Gly58Arg)
c.139G>C (p.Gly47Arg)
c.400G>C (p.Gly134Arg)
c.417G>C
n.558G>C
11g.17387692C>TCA379774003KCNJ11c.172G>A (p.Gly58Arg)
c.139G>A (p.Gly47Arg)
c.400G>A (p.Gly134Arg)
c.417G>A
n.558G>A
11g.17387693A>CCA379774005KCNJ11c.171T>G (p.Phe57Leu)
c.138T>G (p.Phe46Leu)
c.399T>G (p.Phe133Leu)
c.416T>G
n.557T>G
11g.17387693A>GCA473515583KCNJ11c.171T>C (p.Phe57=)
c.138T>C (p.Phe46=)
c.399T>C (p.Phe133=)
c.416T>C
n.557T>C
 gnomAD v4
11g.17387693A>TCA379774006KCNJ11c.171T>A (p.Phe57Leu)
c.138T>A (p.Phe46Leu)
c.399T>A (p.Phe133Leu)
c.416T>A
n.557T>A
11g.17387695delCA2695201086KCNJ11c.171del (p.Phe57LeufsTer6)
c.138del (p.Phe46LeufsTer6)
c.399del (p.Phe133LeufsTer6)
c.416del
n.557del
 ClinVar
11g.17387694A>CCA379774008KCNJ11c.170T>G (p.Phe57Cys)
c.137T>G (p.Phe46Cys)
c.398T>G (p.Phe133Cys)
c.415T>G
n.556T>G
11g.17387694A>GCA379774009KCNJ11c.170T>C (p.Phe57Ser)
c.137T>C (p.Phe46Ser)
c.398T>C (p.Phe133Ser)
c.415T>C
n.556T>C
11g.17387694A>TCA379774007KCNJ11c.170T>A (p.Phe57Tyr)
c.137T>A (p.Phe46Tyr)
c.398T>A (p.Phe133Tyr)
c.415T>A
n.556T>A
11g.17387695A>CCA379774010KCNJ11c.169T>G (p.Phe57Val)
c.136T>G (p.Phe46Val)
c.397T>G (p.Phe133Val)
c.414T>G
n.555T>G
11g.17387695A>GCA379774012KCNJ11c.169T>C (p.Phe57Leu)
c.136T>C (p.Phe46Leu)
c.397T>C (p.Phe133Leu)
c.414T>C
n.555T>C
11g.17387695A>TCA379774014KCNJ11c.169T>A (p.Phe57Ile)
c.136T>A (p.Phe46Ile)
c.397T>A (p.Phe133Ile)
c.414T>A
n.555T>A
11g.17387696G>ACA473515584KCNJ11c.168C>T (p.Gly56=)
c.135C>T (p.Gly45=)
c.396C>T (p.Gly132=)
c.413C>T
n.554C>T
11g.17387696G>CCA473515585KCNJ11c.168C>G (p.Gly56=)
c.135C>G (p.Gly45=)
c.396C>G (p.Gly132=)
c.413C>G
n.554C>G
11g.17387696G>TCA473515586KCNJ11c.168C>A (p.Gly56=)
c.135C>A (p.Gly45=)
c.396C>A (p.Gly132=)
c.413C>A
n.554C>A
11g.17387697C>ACA379774016KCNJ11c.167G>T (p.Gly56Val)
c.134G>T (p.Gly45Val)
c.395G>T (p.Gly132Val)
c.412G>T
n.553G>T
11g.17387697C>GCA379774018KCNJ11c.167G>C (p.Gly56Ala)
c.134G>C (p.Gly45Ala)
c.395G>C (p.Gly132Ala)
c.412G>C
n.553G>C
11g.17387697C>TCA379774020KCNJ11c.167G>A (p.Gly56Asp)
c.134G>A (p.Gly45Asp)
c.395G>A (p.Gly132Asp)
c.412G>A
n.553G>A
11g.17387698C>ACA379774022KCNJ11c.166G>T (p.Gly56Cys)
c.133G>T (p.Gly45Cys)
c.394G>T (p.Gly132Cys)
c.411G>T
n.552G>T
11g.17387698C>GCA379774027KCNJ11c.166G>C (p.Gly56Arg)
c.133G>C (p.Gly45Arg)
c.394G>C (p.Gly132Arg)
c.411G>C
n.552G>C
11g.17387698C>TCA379774025KCNJ11c.166G>A (p.Gly56Ser)
c.133G>A (p.Gly45Ser)
c.394G>A (p.Gly132Ser)
c.411G>A
n.552G>A
11g.17387699A>CCA379774029KCNJ11c.165T>G (p.Ile55Met)
c.132T>G (p.Ile44Met)
c.393T>G (p.Ile131Met)
c.410T>G
n.551T>G
11g.17387699A>GCA473515587KCNJ11c.165T>C (p.Ile55=)
c.132T>C (p.Ile44=)
c.393T>C (p.Ile131=)
c.410T>C
n.551T>C
 ClinVar dbSNP
11g.17387699A>TCA473515589KCNJ11c.165T>A (p.Ile55=)
c.132T>A (p.Ile44=)
c.393T>A (p.Ile131=)
c.410T>A
n.551T>A
11g.17387700delCA2739276315KCNJ11c.165del (p.Ile55MetfsTer8)
c.132del (p.Ile44MetfsTer8)
c.393del (p.Ile131MetfsTer8)
c.410del
n.551del
 ClinVar
11g.17387700_17387702dupCA2695213244KCNJ11c.163_165dup (p.Ile55_Gly56insIle)
c.130_132dup (p.Ile44_Gly45insIle)
c.391_393dup (p.Ile131_Gly132insIle)
c.408_410dup
n.549_551dup
11g.17387699_17387702dupCA2612639102KCNJ11c.162_165dup (p.Gly56TyrfsTer10)
c.129_132dup (p.Gly45TyrfsTer10)
c.390_393dup (p.Gly132TyrfsTer10)
c.407_410dup
n.548_551dup
 gnomAD v4
11g.17387700A=CA1955119359KCNJ11c.164T= (p.Ile55=)
c.131T= (p.Ile44=)
c.392T= (p.Ile131=)
c.409T=
n.550T=
11g.17387700A>CCA379774031KCNJ11c.164T>G (p.Ile55Ser)
c.131T>G (p.Ile44Ser)
c.392T>G (p.Ile131Ser)
c.409T>G
n.550T>G
11g.17387700A>GCA218399931KCNJ11c.164T>C (p.Ile55Thr)
c.131T>C (p.Ile44Thr)
c.392T>C (p.Ile131Thr)
c.409T>C
n.550T>C
 dbSNP
11g.17387700A>TCA379774034KCNJ11c.164T>A (p.Ile55Asn)
c.131T>A (p.Ile44Asn)
c.392T>A (p.Ile131Asn)
c.409T>A
n.550T>A
11g.17387701T>ACA379774040KCNJ11c.163A>T (p.Ile55Phe)
c.130A>T (p.Ile44Phe)
c.391A>T (p.Ile131Phe)
c.408A>T
n.549A>T
11g.17387701T>CCA379774038KCNJ11c.163A>G (p.Ile55Val)
c.130A>G (p.Ile44Val)
c.391A>G (p.Ile131Val)
c.408A>G
n.549A>G
11g.17387701T>GCA379774036KCNJ11c.163A>C (p.Ile55Leu)
c.130A>C (p.Ile44Leu)
c.391A>C (p.Ile131Leu)
c.408A>C
n.549A>C
11g.17387702A>CCA473515592KCNJ11c.162T>G (p.Thr54=)
c.129T>G (p.Thr43=)
c.390T>G (p.Thr130=)
c.407T>G
n.548T>G
11g.17387702A>GCA473515595KCNJ11c.162T>C (p.Thr54=)
c.129T>C (p.Thr43=)
c.390T>C (p.Thr130=)
c.407T>C
n.548T>C
11g.17387702A>TCA473515593KCNJ11c.162T>A (p.Thr54=)
c.129T>A (p.Thr43=)
c.390T>A (p.Thr130=)
c.407T>A
n.548T>A
11g.17387703G>ACA379774042KCNJ11c.161C>T (p.Thr54Ile)
c.128C>T (p.Thr43Ile)
c.389C>T (p.Thr130Ile)
c.406C>T
n.547C>T
 gnomAD v4
11g.17387703G>CCA379774045KCNJ11c.161C>G (p.Thr54Ser)
c.128C>G (p.Thr43Ser)
c.389C>G (p.Thr130Ser)
c.406C>G
n.547C>G
11g.17387703G>TCA379774044KCNJ11c.161C>A (p.Thr54Asn)
c.128C>A (p.Thr43Asn)
c.389C>A (p.Thr130Asn)
c.406C>A
n.547C>A
11g.17387704T>ACA379774051KCNJ11c.160A>T (p.Thr54Ser)
c.127A>T (p.Thr43Ser)
c.388A>T (p.Thr130Ser)
c.405A>T
n.546A>T
11g.17387704T>CCA379774052KCNJ11c.160A>G (p.Thr54Ala)
c.127A>G (p.Thr43Ala)
c.388A>G (p.Thr130Ala)
c.405A>G
n.546A>G
 gnomAD v4
11g.17387704T>GCA379774053KCNJ11c.160A>C (p.Thr54Pro)
c.127A>C (p.Thr43Pro)
c.388A>C (p.Thr130Pro)
c.405A>C
n.546A>C
11g.17387705C>ACA473515597KCNJ11c.159G>T (p.Val53=)
c.126G>T (p.Val42=)
c.387G>T (p.Val129=)
c.404G>T
n.545G>T
 dbSNP
11g.17387705C=CA1955119360KCNJ11c.159G= (p.Val53=)
c.126G= (p.Val42=)
c.387G= (p.Val129=)
c.404G=
n.545G=
11g.17387705C>GCA473515599KCNJ11c.159G>C (p.Val53=)
c.126G>C (p.Val42=)
c.387G>C (p.Val129=)
c.404G>C
n.545G>C
11g.17387705C>TCA473515600KCNJ11c.159G>A (p.Val53=)
c.126G>A (p.Val42=)
c.387G>A (p.Val129=)
c.404G>A
n.545G>A
11g.17387706A>CCA379774055KCNJ11c.158T>G (p.Val53Gly)
c.125T>G (p.Val42Gly)
c.386T>G (p.Val129Gly)
c.403T>G
n.544T>G
11g.17387706A>GCA379774056KCNJ11c.158T>C (p.Val53Ala)
c.125T>C (p.Val42Ala)
c.386T>C (p.Val129Ala)
c.403T>C
n.544T>C
11g.17387706A>TCA379774057KCNJ11c.158T>A (p.Val53Glu)
c.125T>A (p.Val42Glu)
c.386T>A (p.Val129Glu)
c.403T>A
n.544T>A
11g.17387707C>ACA379774060KCNJ11c.157G>T (p.Val53Leu)
c.124G>T (p.Val42Leu)
c.385G>T (p.Val129Leu)
c.402G>T
n.543G>T
11g.17387707C>GCA379774061KCNJ11c.157G>C (p.Val53Leu)
c.124G>C (p.Val42Leu)
c.385G>C (p.Val129Leu)
c.402G>C
n.543G>C
11g.17387707C>TCA379774063KCNJ11c.157G>A (p.Val53Met)
c.124G>A (p.Val42Met)
c.385G>A (p.Val129Met)
c.402G>A
n.543G>A
11g.17387708T>ACA379774066KCNJ11c.156A>T (p.Gln52His)
c.123A>T (p.Gln41His)
c.384A>T (p.Gln128His)
c.401A>T
n.542A>T
11g.17387708T>CCA473515603KCNJ11c.156A>G (p.Gln52=)
c.123A>G (p.Gln41=)
c.384A>G (p.Gln128=)
c.401A>G
n.542A>G
11g.17387708T>GCA379774067KCNJ11c.156A>C (p.Gln52His)
c.123A>C (p.Gln41His)
c.384A>C (p.Gln128His)
c.401A>C
n.542A>C
11g.17387709T>ACA379774073KCNJ11c.155A>T (p.Gln52Leu)
c.122A>T (p.Gln41Leu)
c.383A>T (p.Gln128Leu)
c.400A>T
n.541A>T
11g.17387709T>CCA379774072KCNJ11c.155A>G (p.Gln52Arg)
c.122A>G (p.Gln41Arg)
c.383A>G (p.Gln128Arg)
c.400A>G
n.541A>G
11g.17387709T>GCA379774070KCNJ11c.155A>C (p.Gln52Pro)
c.122A>C (p.Gln41Pro)
c.383A>C (p.Gln128Pro)
c.400A>C
n.541A>C
11g.17387710G>ACA379774075KCNJ11c.154C>T (p.Gln52Ter)
c.121C>T (p.Gln41Ter)
c.382C>T (p.Gln128Ter)
c.399C>T
n.540C>T
11g.17387710G>CCA379774077KCNJ11c.154C>G (p.Gln52Glu)
c.121C>G (p.Gln41Glu)
c.382C>G (p.Gln128Glu)
c.399C>G
n.540C>G
 gnomAD v4
11g.17387710G>TCA379774078KCNJ11c.154C>A (p.Gln52Lys)
c.121C>A (p.Gln41Lys)
c.382C>A (p.Gln128Lys)
c.399C>A
n.540C>A
11g.17387711G>ACA473515604KCNJ11c.153C>T (p.Val51=)
c.120C>T (p.Val40=)
c.381C>T (p.Val127=)
c.398C>T
n.539C>T
11g.17387711G>CCA473515606KCNJ11c.153C>G (p.Val51=)
c.120C>G (p.Val40=)
c.381C>G (p.Val127=)
c.398C>G
n.539C>G
11g.17387711G>TCA473515607KCNJ11c.153C>A (p.Val51=)
c.120C>A (p.Val40=)
c.381C>A (p.Val127=)
c.398C>A
n.539C>A
11g.17387712A>CCA379774081KCNJ11c.152T>G (p.Val51Gly)
c.119T>G (p.Val40Gly)
c.380T>G (p.Val127Gly)
c.397T>G
n.538T>G
11g.17387712A>GCA379774083KCNJ11c.152T>C (p.Val51Ala)
c.119T>C (p.Val40Ala)
c.380T>C (p.Val127Ala)
c.397T>C
n.538T>C
11g.17387712A>TCA379774084KCNJ11c.152T>A (p.Val51Asp)
c.119T>A (p.Val40Asp)
c.380T>A (p.Val127Asp)
c.397T>A
n.538T>A
11g.17387713C>ACA379774087KCNJ11c.151G>T (p.Val51Phe)
c.118G>T (p.Val40Phe)
c.379G>T (p.Val127Phe)
c.396G>T
n.537G>T
 gnomAD v4
11g.17387713C=CA1955119361KCNJ11c.151G= (p.Val51=)
c.118G= (p.Val40=)
c.379G= (p.Val127=)
c.396G=
n.537G=
11g.17387713C>GCA379774089KCNJ11c.151G>C (p.Val51Leu)
c.118G>C (p.Val40Leu)
c.379G>C (p.Val127Leu)
c.396G>C
n.537G>C
11g.17387713C>TCA379774091KCNJ11c.151G>A (p.Val51Ile)
c.118G>A (p.Val40Ile)
c.379G>A (p.Val127Ile)
c.396G>A
n.537G>A
 dbSNP gnomAD v2 gnomAD v4
11g.17387714C>ACA379774094KCNJ11c.150G>T (p.Glu50Asp)
c.117G>T (p.Glu39Asp)
c.378G>T (p.Glu126Asp)
c.395G>T
n.536G>T
 gnomAD v4
11g.17387714C=CA1955119362KCNJ11c.150G= (p.Glu50=)
c.117G= (p.Glu39=)
c.378G= (p.Glu126=)
c.395G=
n.536G=
11g.17387714C>GCA379774096KCNJ11c.150G>C (p.Glu50Asp)
c.117G>C (p.Glu39Asp)
c.378G>C (p.Glu126Asp)
c.395G>C
n.536G>C
11g.17387714C>TCA473515609KCNJ11c.150G>A (p.Glu50=)
c.117G>A (p.Glu39=)
c.378G>A (p.Glu126=)
c.395G>A
n.536G>A
 dbSNP gnomAD v4
11g.17387715T>ACA379774101KCNJ11c.149A>T (p.Glu50Val)
c.116A>T (p.Glu39Val)
c.377A>T (p.Glu126Val)
c.394A>T
n.535A>T
11g.17387715T>CCA379774100KCNJ11c.149A>G (p.Glu50Gly)
c.116A>G (p.Glu39Gly)
c.377A>G (p.Glu126Gly)
c.394A>G
n.535A>G
11g.17387715T>GCA379774099KCNJ11c.149A>C (p.Glu50Ala)
c.116A>C (p.Glu39Ala)
c.377A>C (p.Glu126Ala)
c.394A>C
n.535A>C
11g.17387716C>ACA379774103KCNJ11c.148G>T (p.Glu50Ter)
c.115G>T (p.Glu39Ter)
c.376G>T (p.Glu126Ter)
c.393G>T
n.534G>T
11g.17387716C>GCA379774105KCNJ11c.148G>C (p.Glu50Gln)
c.115G>C (p.Glu39Gln)
c.376G>C (p.Glu126Gln)
c.393G>C
n.534G>C
11g.17387716C>TCA379774106KCNJ11c.148G>A (p.Glu50Lys)
c.115G>A (p.Glu39Lys)
c.376G>A (p.Glu126Lys)
c.393G>A
n.534G>A
11g.17387717A>CCA379774109KCNJ11c.147T>G (p.Ile49Met)
c.114T>G (p.Ile38Met)
c.375T>G (p.Ile125Met)
c.392T>G
n.533T>G
 gnomAD v4
11g.17387717A>GCA473515613KCNJ11c.147T>C (p.Ile49=)
c.114T>C (p.Ile38=)
c.375T>C (p.Ile125=)
c.392T>C
n.533T>C
11g.17387717A>TCA473515614KCNJ11c.147T>A (p.Ile49=)
c.114T>A (p.Ile38=)
c.375T>A (p.Ile125=)
c.392T>A
n.533T>A
11g.17387718A>CCA379774111KCNJ11c.146T>G (p.Ile49Ser)
c.113T>G (p.Ile38Ser)
c.374T>G (p.Ile125Ser)
c.391T>G
n.532T>G
11g.17387718A>GCA379774113KCNJ11c.146T>C (p.Ile49Thr)
c.113T>C (p.Ile38Thr)
c.374T>C (p.Ile125Thr)
c.391T>C
n.532T>C
 gnomAD v4
11g.17387718A>TCA379774115KCNJ11c.146T>A (p.Ile49Asn)
c.113T>A (p.Ile38Asn)
c.374T>A (p.Ile125Asn)
c.391T>A
n.532T>A
11g.17387719T>ACA379774117KCNJ11c.145A>T (p.Ile49Phe)
c.112A>T (p.Ile38Phe)
c.373A>T (p.Ile125Phe)
c.390A>T
n.531A>T
11g.17387719T>CCA379774119KCNJ11c.145A>G (p.Ile49Val)
c.112A>G (p.Ile38Val)
c.373A>G (p.Ile125Val)
c.390A>G
n.531A>G
11g.17387719T>GCA379774121KCNJ11c.145A>C (p.Ile49Leu)
c.112A>C (p.Ile38Leu)
c.373A>C (p.Ile125Leu)
c.390A>C
n.531A>C
 dbSNP gnomAD v2 gnomAD v4
11g.17387719T=CA1955119363KCNJ11c.145A= (p.Ile49=)
c.112A= (p.Ile38=)
c.373A= (p.Ile125=)
c.390A=
n.531A=
11g.17387720G>ACA473515618KCNJ11c.144C>T (p.Ser48=)
c.111C>T (p.Ser37=)
c.372C>T (p.Ser124=)
c.389C>T
n.530C>T
11g.17387720G>CCA473515619KCNJ11c.144C>G (p.Ser48=)
c.111C>G (p.Ser37=)
c.372C>G (p.Ser124=)
c.389C>G
n.530C>G
11g.17387720G>TCA473515620KCNJ11c.144C>A (p.Ser48=)
c.111C>A (p.Ser37=)
c.372C>A (p.Ser124=)
c.389C>A
n.530C>A
11g.17387721G>ACA379774123KCNJ11c.143C>T (p.Ser48Phe)
c.110C>T (p.Ser37Phe)
c.371C>T (p.Ser124Phe)
c.388C>T
n.529C>T
11g.17387721G>CCA379774125KCNJ11c.143C>G (p.Ser48Cys)
c.110C>G (p.Ser37Cys)
c.371C>G (p.Ser124Cys)
c.388C>G
n.529C>G
11g.17387721G>TCA379774127KCNJ11c.143C>A (p.Ser48Tyr)
c.110C>A (p.Ser37Tyr)
c.371C>A (p.Ser124Tyr)
c.388C>A
n.529C>A
11g.17387722A>CCA379774132KCNJ11c.142T>G (p.Ser48Ala)
c.109T>G (p.Ser37Ala)
c.370T>G (p.Ser124Ala)
c.387T>G
n.528T>G
11g.17387722A>GCA379774129KCNJ11c.142T>C (p.Ser48Pro)
c.109T>C (p.Ser37Pro)
c.370T>C (p.Ser124Pro)
c.387T>C
n.528T>C
11g.17387722A>TCA379774131KCNJ11c.142T>A (p.Ser48Thr)
c.109T>A (p.Ser37Thr)
c.370T>A (p.Ser124Thr)
c.387T>A
n.528T>A
11g.17387723G>ACA473515624KCNJ11c.141C>T (p.Phe47=)
c.108C>T (p.Phe36=)
c.369C>T (p.Phe123=)
c.386C>T
n.527C>T
11g.17387723G>CCA379774134KCNJ11c.141C>G (p.Phe47Leu)
c.108C>G (p.Phe36Leu)
c.369C>G (p.Phe123Leu)
c.386C>G
n.527C>G
11g.17387723G=CA1955119364KCNJ11c.141C= (p.Phe47=)
c.108C= (p.Phe36=)
c.369C= (p.Phe123=)
c.386C=
n.527C=
11g.17387723G>TCA379774135KCNJ11c.141C>A (p.Phe47Leu)
c.108C>A (p.Phe36Leu)
c.369C>A (p.Phe123Leu)
c.386C>A
n.527C>A
11g.17387724A>CCA379774137KCNJ11c.140T>G (p.Phe47Cys)
c.107T>G (p.Phe36Cys)
c.368T>G (p.Phe123Cys)
c.385T>G
n.526T>G
11g.17387724A>GCA379774139KCNJ11c.140T>C (p.Phe47Ser)
c.107T>C (p.Phe36Ser)
c.368T>C (p.Phe123Ser)
c.385T>C
n.526T>C
11g.17387724A>TCA379774141KCNJ11c.140T>A (p.Phe47Tyr)
c.107T>A (p.Phe36Tyr)
c.368T>A (p.Phe123Tyr)
c.385T>A
n.526T>A
11g.17387727dupCA658797595KCNJ11c.140dup (p.Ser48LeufsTer3)
c.107dup (p.Ser37LeufsTer3)
c.368dup (p.Ser124LeufsTer3)
c.385dup
n.526dup
 ClinVar dbSNP gnomAD v4
11g.17387727delCA2831039173KCNJ11c.140del (p.Phe47SerfsTer7)
c.107del (p.Phe36SerfsTer7)
c.368del (p.Phe123SerfsTer7)
c.385del
n.526del
11g.17387725A=CA1955119365KCNJ11c.139T= (p.Phe47=)
c.106T= (p.Phe36=)
c.367T= (p.Phe123=)
c.384T=
n.525T=
11g.17387725A>CCA379774143KCNJ11c.139T>G (p.Phe47Val)
c.106T>G (p.Phe36Val)
c.367T>G (p.Phe123Val)
c.384T>G
n.525T>G
11g.17387725A>GCA379774145KCNJ11c.139T>C (p.Phe47Leu)
c.106T>C (p.Phe36Leu)
c.367T>C (p.Phe123Leu)
c.384T>C
n.525T>C
 dbSNP gnomAD v2 gnomAD v4
11g.17387725A>TCA379774147KCNJ11c.139T>A (p.Phe47Ile)
c.106T>A (p.Phe36Ile)
c.367T>A (p.Phe123Ile)
c.384T>A
n.525T>A
11g.17387725_17387729delinsAAAGGCA1955119366KCNJ11c.135_139delinsCCTTT (p.Phe45=)
c.102_106delinsCCTTT (p.Phe34=)
c.363_367delinsCCTTT (p.Phe121=)
c.380_384delinsCCTTT
n.521_525delinsCCTTT
11g.17387727_17387731delCA912971884KCNJ11c.135_139del (p.Phe47HisfsTer2)
c.102_106del (p.Phe36HisfsTer2)
c.363_367del (p.Phe123HisfsTer2)
c.380_384del
n.521_525del
11g.17387726_17387751delCA2695213246KCNJ11c.114_139del (p.His39LeufsTer3)
c.81_106del (p.His28LeufsTer3)
c.342_367del (p.His115LeufsTer3)
c.359_384del
n.500_525del
11g.17387726A>CCA473515627KCNJ11c.138T>G (p.Leu46=)
c.105T>G (p.Leu35=)
c.366T>G (p.Leu122=)
c.383T>G
n.524T>G
11g.17387726A>GCA473515628KCNJ11c.138T>C (p.Leu46=)
c.105T>C (p.Leu35=)
c.366T>C (p.Leu122=)
c.383T>C
n.524T>C
 gnomAD v4
11g.17387726A>TCA473515629KCNJ11c.138T>A (p.Leu46=)
c.105T>A (p.Leu35=)
c.366T>A (p.Leu122=)
c.383T>A
n.524T>A
11g.17387730_17387733delCA658822455KCNJ11c.135_138del (p.Leu46SerfsTer7)
c.102_105del (p.Leu35SerfsTer7)
c.363_366del (p.Leu122SerfsTer7)
c.380_383del
n.521_524del
 ClinVar dbSNP
11g.17387727A=CA1955119367KCNJ11c.137T= (p.Leu46=)
c.104T= (p.Leu35=)
c.365T= (p.Leu122=)
c.382T=
n.523T=
11g.17387727A>CCA379774148KCNJ11c.137T>G (p.Leu46Arg)
c.104T>G (p.Leu35Arg)
c.365T>G (p.Leu122Arg)
c.382T>G
n.523T>G
 COSMIC
11g.17387727A>GCA379774149KCNJ11c.137T>C (p.Leu46Pro)
c.104T>C (p.Leu35Pro)
c.365T>C (p.Leu122Pro)
c.382T>C
n.523T>C
 ClinVar dbSNP
11g.17387727A>TCA379774151KCNJ11c.137T>A (p.Leu46His)
c.104T>A (p.Leu35His)
c.365T>A (p.Leu122His)
c.382T>A
n.523T>A
11g.17387728G>ACA379774157KCNJ11c.136C>T (p.Leu46Phe)
c.103C>T (p.Leu35Phe)
c.364C>T (p.Leu122Phe)
c.381C>T
n.522C>T
 gnomAD v4 COSMIC
11g.17387728G>CCA379774155KCNJ11c.136C>G (p.Leu46Val)
c.103C>G (p.Leu35Val)
c.364C>G (p.Leu122Val)
c.381C>G
n.522C>G
11g.17387728G>TCA379774153KCNJ11c.136C>A (p.Leu46Ile)
c.103C>A (p.Leu35Ile)
c.364C>A (p.Leu122Ile)
c.381C>A
n.522C>A
11g.17387729G>ACA473515631KCNJ11c.135C>T (p.Phe45=)
c.102C>T (p.Phe34=)
c.363C>T (p.Phe121=)
c.380C>T
n.521C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.17387729G>CCA379774158KCNJ11c.135C>G (p.Phe45Leu)
c.102C>G (p.Phe34Leu)
c.363C>G (p.Phe121Leu)
c.380C>G
n.521C>G
11g.17387729G=CA1955119368KCNJ11c.135C= (p.Phe45=)
c.102C= (p.Phe34=)
c.363C= (p.Phe121=)
c.380C=
n.521C=
11g.17387729G>TCA379774159KCNJ11c.135C>A (p.Phe45Leu)
c.102C>A (p.Phe34Leu)
c.363C>A (p.Phe121Leu)
c.380C>A
n.521C>A
11g.17387730A>CCA379774160KCNJ11c.134T>G (p.Phe45Cys)
c.101T>G (p.Phe34Cys)
c.362T>G (p.Phe121Cys)
c.379T>G
n.520T>G
11g.17387730A>GCA379774165KCNJ11c.134T>C (p.Phe45Ser)
c.101T>C (p.Phe34Ser)
c.362T>C (p.Phe121Ser)
c.379T>C
n.520T>C
11g.17387730A>TCA379774162KCNJ11c.134T>A (p.Phe45Tyr)
c.101T>A (p.Phe34Tyr)
c.362T>A (p.Phe121Tyr)
c.379T>A
n.520T>A
11g.17387731A>CCA379774169KCNJ11c.133T>G (p.Phe45Val)
c.100T>G (p.Phe34Val)
c.361T>G (p.Phe121Val)
c.378T>G
n.519T>G
11g.17387731A>GCA379774171KCNJ11c.133T>C (p.Phe45Leu)
c.100T>C (p.Phe34Leu)
c.361T>C (p.Phe121Leu)
c.378T>C
n.519T>C
11g.17387731A>TCA379774174KCNJ11c.133T>A (p.Phe45Ile)
c.100T>A (p.Phe34Ile)
c.361T>A (p.Phe121Ile)
c.378T>A
n.519T>A
11g.17387732G>ACA473515634KCNJ11c.132C>T (p.Ala44=)
c.99C>T (p.Ala33=)
c.360C>T (p.Ala120=)
c.377C>T
n.518C>T
11g.17387732G>CCA473515635KCNJ11c.132C>G (p.Ala44=)
c.99C>G (p.Ala33=)
c.360C>G (p.Ala120=)
c.377C>G
n.518C>G
11g.17387732G>TCA473515636KCNJ11c.132C>A (p.Ala44=)
c.99C>A (p.Ala33=)
c.360C>A (p.Ala120=)
c.377C>A
n.518C>A
11g.17387733G>ACA379774177KCNJ11c.131C>T (p.Ala44Val)
c.98C>T (p.Ala33Val)
c.359C>T (p.Ala120Val)
c.376C>T
n.517C>T
11g.17387733G>CCA379774179KCNJ11c.131C>G (p.Ala44Gly)
c.98C>G (p.Ala33Gly)
c.359C>G (p.Ala120Gly)
c.376C>G
n.517C>G
11g.17387733G>TCA379774182KCNJ11c.131C>A (p.Ala44Asp)
c.98C>A (p.Ala33Asp)
c.359C>A (p.Ala120Asp)
c.376C>A
n.517C>A
11g.17387733_17387734delinsGCCA1955119369KCNJ11c.130_131delinsGC (p.Ala44=)
c.97_98delinsGC (p.Ala33=)
c.358_359delinsGC (p.Ala120=)
c.375_376delinsGC
n.516_517delinsGC
11g.17387734delCA597904312KCNJ11c.130del (p.Ala44ProfsTer10)
c.97del (p.Ala33ProfsTer10)
c.358del (p.Ala120ProfsTer10)
c.375del
n.516del
 dbSNP gnomAD v2 gnomAD v4
11g.17387734C>ACA379774186KCNJ11c.130G>T (p.Ala44Ser)
c.97G>T (p.Ala33Ser)
c.358G>T (p.Ala120Ser)
c.375G>T
n.516G>T
11g.17387734C=CA1955119370KCNJ11c.130G= (p.Ala44=)
c.97G= (p.Ala33=)
c.358G= (p.Ala120=)
c.375G=
n.516G=
11g.17387734C>GCA379774189KCNJ11c.130G>C (p.Ala44Pro)
c.97G>C (p.Ala33Pro)
c.358G>C (p.Ala120Pro)
c.375G>C
n.516G>C
11g.17387734C>TCA379774191KCNJ11c.130G>A (p.Ala44Thr)
c.97G>A (p.Ala33Thr)
c.358G>A (p.Ala120Thr)
c.375G>A
n.516G>A
 dbSNP
11g.17387735A=CA1955119371KCNJ11c.129T= (p.Ser43=)
c.96T= (p.Ser32=)
c.357T= (p.Ser119=)
c.374T=
n.515T=
11g.17387735A>CCA473515637KCNJ11c.129T>G (p.Ser43=)
c.96T>G (p.Ser32=)
c.357T>G (p.Ser119=)
c.374T>G
n.515T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17387735A>GCA473515638KCNJ11c.129T>C (p.Ser43=)
c.96T>C (p.Ser32=)
c.357T>C (p.Ser119=)
c.374T>C
n.515T>C
11g.17387735A>TCA473515640KCNJ11c.129T>A (p.Ser43=)
c.96T>A (p.Ser32=)
c.357T>A (p.Ser119=)
c.374T>A
n.515T>A
11g.17387736G>ACA379774195KCNJ11c.128C>T (p.Ser43Phe)
c.95C>T (p.Ser32Phe)
c.356C>T (p.Ser119Phe)
c.373C>T
n.514C>T
11g.17387736G>CCA379774199KCNJ11c.128C>G (p.Ser43Cys)
c.95C>G (p.Ser32Cys)
c.356C>G (p.Ser119Cys)
c.373C>G
n.514C>G
11g.17387736G>TCA379774212KCNJ11c.128C>A (p.Ser43Tyr)
c.95C>A (p.Ser32Tyr)
c.356C>A (p.Ser119Tyr)
c.373C>A
n.514C>A
11g.17387736dupCA2695213247KCNJ11c.128dup (p.Ala44CysfsTer7)
c.95dup (p.Ala33CysfsTer7)
c.356dup (p.Ala120CysfsTer7)
c.373dup
n.514dup
11g.17387737A=CA1955119372KCNJ11c.127T= (p.Ser43=)
c.94T= (p.Ser32=)
c.355T= (p.Ser119=)
c.372T=
n.513T=
11g.17387737A>CCA5902296KCNJ11c.127T>G (p.Ser43Ala)
c.94T>G (p.Ser32Ala)
c.355T>G (p.Ser119Ala)
c.372T>G
n.513T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387737A>GCA379774215KCNJ11c.127T>C (p.Ser43Pro)
c.94T>C (p.Ser32Pro)
c.355T>C (p.Ser119Pro)
c.372T>C
n.513T>C
11g.17387737A>TCA379774217KCNJ11c.127T>A (p.Ser43Thr)
c.94T>A (p.Ser32Thr)
c.355T>A (p.Ser119Thr)
c.372T>A
n.513T>A
11g.17387738C>ACA473515644KCNJ11c.126G>T (p.Ser42=)
c.93G>T (p.Ser31=)
c.354G>T (p.Ser118=)
c.371G>T
n.512G>T
11g.17387738C=CA1955119373KCNJ11c.126G= (p.Ser42=)
c.93G= (p.Ser31=)
c.354G= (p.Ser118=)
c.371G=
n.512G=
11g.17387738C>GCA473515641KCNJ11c.126G>C (p.Ser42=)
c.93G>C (p.Ser31=)
c.354G>C (p.Ser118=)
c.371G>C
n.512G>C
 gnomAD v4
11g.17387738C>TCA5902297KCNJ11c.126G>A (p.Ser42=)
c.93G>A (p.Ser31=)
c.354G>A (p.Ser118=)
c.371G>A
n.512G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387739G>ACA5902299KCNJ11c.125C>T (p.Ser42Leu)
c.92C>T (p.Ser31Leu)
c.353C>T (p.Ser118Leu)
c.370C>T
n.511C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387739G>CCA379774228KCNJ11c.125C>G (p.Ser42Trp)
c.92C>G (p.Ser31Trp)
c.353C>G (p.Ser118Trp)
c.370C>G
n.511C>G
11g.17387739G=CA1955119375KCNJ11c.125C= (p.Ser42=)
c.92C= (p.Ser31=)
c.353C= (p.Ser118=)
c.370C=
n.511C=
11g.17387739G>TCA379774230KCNJ11c.125C>A (p.Ser42Ter)
c.92C>A (p.Ser31Ter)
c.353C>A (p.Ser118Ter)
c.370C>A
n.511C>A
11g.17387739_17387742delinsGAGACA1955119374KCNJ11c.122_125delinsTCTC (p.Phe41=)
c.89_92delinsTCTC (p.Phe30=)
c.350_353delinsTCTC (p.Phe117=)
c.367_370delinsTCTC
n.508_511delinsTCTC
11g.17387742_17387747delCA2695213248KCNJ11c.120_125del (p.Phe41_Ser42del)
c.87_92del (p.Phe30_Ser31del)
c.348_353del (p.Phe117_Ser118del)
c.365_370del
n.506_511del
11g.17387740A>CCA379774236KCNJ11c.124T>G (p.Ser42Ala)
c.91T>G (p.Ser31Ala)
c.352T>G (p.Ser118Ala)
c.369T>G
n.510T>G
11g.17387740A>GCA379774238KCNJ11c.124T>C (p.Ser42Pro)
c.91T>C (p.Ser31Pro)
c.352T>C (p.Ser118Pro)
c.369T>C
n.510T>C
11g.17387740A>TCA379774241KCNJ11c.124T>A (p.Ser42Thr)
c.91T>A (p.Ser31Thr)
c.352T>A (p.Ser118Thr)
c.369T>A
n.510T>A
11g.17387742_17387744delCA5902298KCNJ11c.122_124del (p.Phe41del)
c.89_91del (p.Phe30del)
c.350_352del (p.Phe117del)
c.367_369del
n.508_510del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched