Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17387309A>CCA379770770KCNJ11c.522T>G (p.Ile174Met)
c.783T>G (p.Ile261Met)
n.941T>G
11g.17387309A>GCA473515420KCNJ11c.522T>C (p.Ile174=)
c.783T>C (p.Ile261=)
n.941T>C
dbSNP
11g.17387309A>TCA473515419KCNJ11c.522T>A (p.Ile174=)
c.783T>A (p.Ile261=)
n.941T>A
11g.17387310A=CA1955119206KCNJ11c.521T= (p.Ile174=)
c.782T= (p.Ile261=)
n.940T=
11g.17387310A>CCA379770775KCNJ11c.521T>G (p.Ile174Ser)
c.782T>G (p.Ile261Ser)
n.940T>G
11g.17387310A>GCA379770793KCNJ11c.521T>C (p.Ile174Thr)
c.782T>C (p.Ile261Thr)
n.940T>C
dbSNP gnomAD v3 gnomAD v4
11g.17387310A>TCA379770779KCNJ11c.521T>A (p.Ile174Asn)
c.782T>A (p.Ile261Asn)
n.940T>A
11g.17387311T>ACA379770795KCNJ11c.520A>T (p.Ile174Phe)
c.781A>T (p.Ile261Phe)
n.939A>T
11g.17387311T>CCA379770797KCNJ11c.520A>G (p.Ile174Val)
c.781A>G (p.Ile261Val)
n.939A>G
11g.17387311T>GCA379770800KCNJ11c.520A>C (p.Ile174Leu)
c.781A>C (p.Ile261Leu)
n.939A>C
11g.17387312G>ACA5902248KCNJ11c.519C>T (p.Val173=)
c.780C>T (p.Val260=)
n.938C>T
dbSNP ExAC gnomAD v2
11g.17387312G>CCA473515423KCNJ11c.519C>G (p.Val173=)
c.780C>G (p.Val260=)
n.938C>G
11g.17387312G=CA1955119207KCNJ11c.519C= (p.Val173=)
c.780C= (p.Val260=)
n.938C=
11g.17387312G>TCA473515422KCNJ11c.519C>A (p.Val173=)
c.780C>A (p.Val260=)
n.938C>A
11g.17387313A>CCA379770807KCNJ11c.518T>G (p.Val173Gly)
c.779T>G (p.Val260Gly)
n.937T>G
11g.17387313A>GCA379770810KCNJ11c.518T>C (p.Val173Ala)
c.779T>C (p.Val260Ala)
n.937T>C
11g.17387313A>TCA379770813KCNJ11c.518T>A (p.Val173Asp)
c.779T>A (p.Val260Asp)
n.937T>A
11g.17387314C>ACA379770815KCNJ11c.517G>T (p.Val173Phe)
c.778G>T (p.Val260Phe)
n.936G>T
11g.17387314C=CA1955119208KCNJ11c.517G= (p.Val173=)
c.778G= (p.Val260=)
n.936G=
11g.17387314C>GCA379770818KCNJ11c.517G>C (p.Val173Leu)
c.778G>C (p.Val260Leu)
n.936G>C
11g.17387314C>TCA218399602KCNJ11c.517G>A (p.Val173Ile)
c.778G>A (p.Val260Ile)
n.936G>A
ClinVar dbSNP
11g.17387315A>CCA379770824KCNJ11c.516T>G (p.His172Gln)
c.777T>G (p.His259Gln)
n.935T>G
11g.17387315A>GCA473515425KCNJ11c.516T>C (p.His172=)
c.777T>C (p.His259=)
n.935T>C
gnomAD v4
11g.17387315A>TCA379770825KCNJ11c.516T>A (p.His172Gln)
c.777T>A (p.His259Gln)
n.935T>A
11g.17387316T>ACA379770834KCNJ11c.515A>T (p.His172Leu)
c.776A>T (p.His259Leu)
n.934A>T
11g.17387316T>CCA254522KCNJ11c.515A>G (p.His172Arg)
c.776A>G (p.His259Arg)
n.934A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387316T>GCA379770830KCNJ11c.515A>C (p.His172Pro)
c.776A>C (p.His259Pro)
n.934A>C
11g.17387316T=CA1955119209KCNJ11c.515A= (p.His172=)
c.776A= (p.His259=)
n.934A=
11g.17387317G>ACA379770836KCNJ11c.514C>T (p.His172Tyr)
c.775C>T (p.His259Tyr)
n.933C>T
gnomAD v4
11g.17387317G>CCA379770839KCNJ11c.514C>G (p.His172Asp)
c.775C>G (p.His259Asp)
n.933C>G
11g.17387317G>TCA379770842KCNJ11c.514C>A (p.His172Asn)
c.775C>A (p.His259Asn)
n.933C>A
11g.17387318delCA2695213387KCNJ11c.514del (p.His172MetfsTer?)
c.775del (p.His259MetfsTer?)
n.933del
11g.17387318G>ACA473515429KCNJ11c.513C>T (p.Tyr171=)
c.774C>T (p.Tyr258=)
n.932C>T
11g.17387318G>CCA379770845KCNJ11c.513C>G (p.Tyr171Ter)
c.774C>G (p.Tyr258Ter)
n.932C>G
11g.17387318G=CA1955119210KCNJ11c.513C= (p.Tyr171=)
c.774C= (p.Tyr258=)
n.932C=
11g.17387318G>TCA379770847KCNJ11c.513C>A (p.Tyr171Ter)
c.774C>A (p.Tyr258Ter)
n.932C>A
ClinVar dbSNP
11g.17387319T>ACA379770851KCNJ11c.512A>T (p.Tyr171Phe)
c.773A>T (p.Tyr258Phe)
n.931A>T
11g.17387319T>CCA5902249KCNJ11c.512A>G (p.Tyr171Cys)
c.773A>G (p.Tyr258Cys)
n.931A>G
dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387319T>GCA379770855KCNJ11c.512A>C (p.Tyr171Ser)
c.773A>C (p.Tyr258Ser)
n.931A>C
11g.17387319T=CA1955119211KCNJ11c.512A= (p.Tyr171=)
c.773A= (p.Tyr258=)
n.931A=
11g.17387320A=CA1955119212KCNJ11c.511T= (p.Tyr171=)
c.772T= (p.Tyr258=)
n.930T=
11g.17387320A>CCA379770859KCNJ11c.511T>G (p.Tyr171Asp)
c.772T>G (p.Tyr258Asp)
n.930T>G
11g.17387320A>GCA5902250KCNJ11c.511T>C (p.Tyr171His)
c.772T>C (p.Tyr258His)
n.930T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387320A>TCA379770868KCNJ11c.511T>A (p.Tyr171Asn)
c.772T>A (p.Tyr258Asn)
n.930T>A
11g.17387320dupCA912971887KCNJ11c.511dup (p.Tyr171LeufsTer5)
c.772dup (p.Tyr258LeufsTer5)
n.930dup
11g.17387321G>ACA473515431KCNJ11c.510C>T (p.Ile170=)
c.771C>T (p.Ile257=)
n.929C>T
11g.17387321G>CCA379770871KCNJ11c.510C>G (p.Ile170Met)
c.771C>G (p.Ile257Met)
n.929C>G
gnomAD v4
11g.17387321G>TCA473515434KCNJ11c.510C>A (p.Ile170=)
c.771C>A (p.Ile257=)
n.929C>A
11g.17387321_17387327dupCA658822453KCNJ11c.504_510dup (p.Tyr171AspfsTer7)
c.765_771dup (p.Tyr258AspfsTer7)
n.923_929dup
ClinVar dbSNP
11g.17387322A>CCA379770877KCNJ11c.509T>G (p.Ile170Ser)
c.770T>G (p.Ile257Ser)
n.928T>G

Number of alleles fetched