Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17387406T>ACA379771485KCNJ11c.425A>T (p.Glu142Val)
c.686A>T (p.Glu229Val)
n.844A>T
11g.17387406T>CCA379771488KCNJ11c.425A>G (p.Glu142Gly)
c.686A>G (p.Glu229Gly)
n.844A>G
11g.17387406T>GCA379771489KCNJ11c.425A>C (p.Glu142Ala)
c.686A>C (p.Glu229Ala)
n.844A>C
11g.17387407C>ACA379771495KCNJ11c.424G>T (p.Glu142Ter)
c.685G>T (p.Glu229Ter)
n.843G>T
11g.17387407C=CA1955119249KCNJ11c.424G= (p.Glu142=)
c.685G= (p.Glu229=)
n.843G=
11g.17387407C>GCA379771504KCNJ11c.424G>C (p.Glu142Gln)
c.685G>C (p.Glu229Gln)
n.843G>C
11g.17387407C>TCA172342KCNJ11c.424G>A (p.Glu142Lys)
c.685G>A (p.Glu229Lys)
n.843G>A
ClinVar dbSNP
11g.17387408G>ACA5902263KCNJ11c.423C>T (p.Gly141=)
c.684C>T (p.Gly228=)
n.842C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387408G>CCA473515632KCNJ11c.423C>G (p.Gly141=)
c.684C>G (p.Gly228=)
n.842C>G
11g.17387408G=CA1955119250KCNJ11c.423C= (p.Gly141=)
c.684C= (p.Gly228=)
n.842C=
11g.17387408G>TCA473515633KCNJ11c.423C>A (p.Gly141=)
c.684C>A (p.Gly228=)
n.842C>A
gnomAD v4
11g.17387409C>ACA379771511KCNJ11c.422G>T (p.Gly141Val)
c.683G>T (p.Gly228Val)
n.841G>T
11g.17387409C>GCA379771514KCNJ11c.422G>C (p.Gly141Ala)
c.683G>C (p.Gly228Ala)
n.841G>C
11g.17387409C>TCA379771517KCNJ11c.422G>A (p.Gly141Asp)
c.683G>A (p.Gly228Asp)
n.841G>A
11g.17387410C>ACA379771520KCNJ11c.421G>T (p.Gly141Cys)
c.682G>T (p.Gly228Cys)
n.840G>T
11g.17387410C=CA1955119251KCNJ11c.421G= (p.Gly141=)
c.682G= (p.Gly228=)
n.840G=
11g.17387410C>GCA379771525KCNJ11c.421G>C (p.Gly141Arg)
c.682G>C (p.Gly228Arg)
n.840G>C
11g.17387410C>TCA218399688KCNJ11c.421G>A (p.Gly141Ser)
c.682G>A (p.Gly228Ser)
n.840G>A
dbSNP gnomAD v2 gnomAD v4
11g.17387411C>ACA379771528KCNJ11c.420G>T (p.Glu140Asp)
c.681G>T (p.Glu227Asp)
n.839G>T
11g.17387411C=CA1955119252KCNJ11c.420G= (p.Glu140=)
c.681G= (p.Glu227=)
n.839G=
11g.17387411C>GCA379771529KCNJ11c.420G>C (p.Glu140Asp)
c.681G>C (p.Glu227Asp)
n.839G>C
dbSNP
11g.17387411C>TCA473515639KCNJ11c.420G>A (p.Glu140=)
c.681G>A (p.Glu227=)
n.839G>A
11g.17387412T>ACA379771535KCNJ11c.419A>T (p.Glu140Val)
c.680A>T (p.Glu227Val)
n.838A>T
11g.17387412T>CCA379771537KCNJ11c.419A>G (p.Glu140Gly)
c.680A>G (p.Glu227Gly)
n.838A>G
11g.17387412T>GCA379771539KCNJ11c.419A>C (p.Glu140Ala)
c.680A>C (p.Glu227Ala)
n.838A>C
11g.17387412_17387413delinsAGCA2695213242KCNJ11c.418_419delinsCT (p.Glu140Leu)
c.679_680delinsCT (p.Glu227Leu)
n.837_838delinsCT
11g.17387413C>ACA379771548KCNJ11c.418G>T (p.Glu140Ter)
c.679G>T (p.Glu227Ter)
n.837G>T
11g.17387413C=CA1955119253KCNJ11c.418G= (p.Glu140=)
c.679G= (p.Glu227=)
n.837G=
11g.17387413C>GCA379771550KCNJ11c.418G>C (p.Glu140Gln)
c.679G>C (p.Glu227Gln)
n.837G>C
11g.17387413C>TCA172340KCNJ11c.418G>A (p.Glu140Lys)
c.679G>A (p.Glu227Lys)
n.837G>A
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.17387414G>ACA238617KCNJ11c.417C>T (p.Pro139=)
c.678C>T (p.Pro226=)
n.836C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387414G>CCA473515643KCNJ11c.417C>G (p.Pro139=)
c.678C>G (p.Pro226=)
n.836C>G
dbSNP
11g.17387414G=CA1955119254KCNJ11c.417C= (p.Pro139=)
c.678C= (p.Pro226=)
n.836C=
11g.17387414G>TCA473515642KCNJ11c.417C>A (p.Pro139=)
c.678C>A (p.Pro226=)
n.836C>A
11g.17387417delCA2612638755KCNJ11c.417del (p.Glu140ArgfsTer29)
c.678del (p.Glu227ArgfsTer29)
c.417del (p.Glu140ArgfsTer?)
n.836del
gnomAD v4
11g.17387415G>ACA379771556KCNJ11c.416C>T (p.Pro139Leu)
c.677C>T (p.Pro226Leu)
n.835C>T
11g.17387415G>CCA379771559KCNJ11c.416C>G (p.Pro139Arg)
c.677C>G (p.Pro226Arg)
n.835C>G
11g.17387415G>TCA379771561KCNJ11c.416C>A (p.Pro139His)
c.677C>A (p.Pro226His)
n.835C>A
11g.17387416G>ACA379771566KCNJ11c.415C>T (p.Pro139Ser)
c.676C>T (p.Pro226Ser)
n.834C>T
gnomAD v4
11g.17387416G>CCA379771563KCNJ11c.415C>G (p.Pro139Ala)
c.676C>G (p.Pro226Ala)
n.834C>G
11g.17387416G>TCA379771565KCNJ11c.415C>A (p.Pro139Thr)
c.676C>A (p.Pro226Thr)
n.834C>A
11g.17387417G>ACA473515645KCNJ11c.414C>T (p.Ser138=)
c.675C>T (p.Ser225=)
n.833C>T
ClinVar dbSNP gnomAD v4 COSMIC
11g.17387417G>CCA379771569KCNJ11c.414C>G (p.Ser138Arg)
c.675C>G (p.Ser225Arg)
n.833C>G
11g.17387417G>TCA379771571KCNJ11c.414C>A (p.Ser138Arg)
c.675C>A (p.Ser225Arg)
n.833C>A
11g.17387418C>ACA379771574KCNJ11c.413G>T (p.Ser138Ile)
c.674G>T (p.Ser225Ile)
n.832G>T
gnomAD v4
11g.17387418C>GCA379771576KCNJ11c.413G>C (p.Ser138Thr)
c.674G>C (p.Ser225Thr)
n.832G>C
11g.17387418C>TCA379771577KCNJ11c.413G>A (p.Ser138Asn)
c.674G>A (p.Ser225Asn)
n.832G>A
COSMIC
11g.17387419T>ACA379771580KCNJ11c.412A>T (p.Ser138Cys)
c.673A>T (p.Ser225Cys)
n.831A>T
11g.17387419T>CCA379771582KCNJ11c.412A>G (p.Ser138Gly)
c.673A>G (p.Ser225Gly)
n.831A>G
gnomAD v4
11g.17387419T>GCA379771586KCNJ11c.412A>C (p.Ser138Arg)
c.673A>C (p.Ser225Arg)
n.831A>C

Number of alleles fetched