Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17387753G>ACA473515661KCNJ11c.111C>T (p.Ser37=)
c.78C>T (p.Ser26=)
c.339C>T (p.Ser113=)
c.356C>T
n.497C>T
11g.17387753G>CCA379774335KCNJ11c.111C>G (p.Ser37Arg)
c.78C>G (p.Ser26Arg)
c.339C>G (p.Ser113Arg)
c.356C>G
n.497C>G
11g.17387753G>TCA379774337KCNJ11c.111C>A (p.Ser37Arg)
c.78C>A (p.Ser26Arg)
c.339C>A (p.Ser113Arg)
c.356C>A
n.497C>A
11g.17387754C>ACA379774346KCNJ11c.110G>T (p.Ser37Ile)
c.77G>T (p.Ser26Ile)
c.338G>T (p.Ser113Ile)
c.355G>T
n.496G>T
11g.17387754C>GCA379774343KCNJ11c.110G>C (p.Ser37Thr)
c.77G>C (p.Ser26Thr)
c.338G>C (p.Ser113Thr)
c.355G>C
n.496G>C
11g.17387754C>TCA379774340KCNJ11c.110G>A (p.Ser37Asn)
c.77G>A (p.Ser26Asn)
c.338G>A (p.Ser113Asn)
c.355G>A
n.496G>A
11g.17387755T>ACA379774349KCNJ11c.109A>T (p.Ser37Cys)
c.76A>T (p.Ser26Cys)
c.337A>T (p.Ser113Cys)
c.354A>T
n.495A>T
11g.17387755T>CCA5902300KCNJ11c.109A>G (p.Ser37Gly)
c.76A>G (p.Ser26Gly)
c.337A>G (p.Ser113Gly)
c.354A>G
n.495A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387755T>GCA379774352KCNJ11c.109A>C (p.Ser37Arg)
c.76A>C (p.Ser26Arg)
c.337A>C (p.Ser113Arg)
c.354A>C
n.495A>C
11g.17387755T=CA1955119380KCNJ11c.109A= (p.Ser37=)
c.76A= (p.Ser26=)
c.337A= (p.Ser113=)
c.354A=
n.495A=
11g.17387756G>ACA473515758KCNJ11c.108C>T (p.Thr36=)
c.75C>T (p.Thr25=)
c.336C>T (p.Thr112=)
c.353C>T
n.494C>T
11g.17387756G>CCA473515759KCNJ11c.108C>G (p.Thr36=)
c.75C>G (p.Thr25=)
c.336C>G (p.Thr112=)
c.353C>G
n.494C>G
 ClinVar dbSNP
11g.17387756G>TCA473515760KCNJ11c.108C>A (p.Thr36=)
c.75C>A (p.Thr25=)
c.336C>A (p.Thr112=)
c.353C>A
n.494C>A
11g.17387757G>ACA379774358KCNJ11c.107C>T (p.Thr36Ile)
c.74C>T (p.Thr25Ile)
c.335C>T (p.Thr112Ile)
c.352C>T
n.493C>T
11g.17387757G>CCA379774360KCNJ11c.107C>G (p.Thr36Ser)
c.74C>G (p.Thr25Ser)
c.335C>G (p.Thr112Ser)
c.352C>G
n.493C>G
11g.17387757G>TCA379774363KCNJ11c.107C>A (p.Thr36Asn)
c.74C>A (p.Thr25Asn)
c.335C>A (p.Thr112Asn)
c.352C>A
n.493C>A
 ClinVar gnomAD v4
11g.17387758T>ACA379774366KCNJ11c.106A>T (p.Thr36Ser)
c.73A>T (p.Thr25Ser)
c.334A>T (p.Thr112Ser)
c.351A>T
n.492A>T
11g.17387758T>CCA5902301KCNJ11c.106A>G (p.Thr36Ala)
c.73A>G (p.Thr25Ala)
c.334A>G (p.Thr112Ala)
c.351A>G
n.492A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387758T>GCA379774370KCNJ11c.106A>C (p.Thr36Pro)
c.73A>C (p.Thr25Pro)
c.334A>C (p.Thr112Pro)
c.351A>C
n.492A>C
 dbSNP
11g.17387758T=CA1955119381KCNJ11c.106A= (p.Thr36=)
c.73A= (p.Thr25=)
c.334A= (p.Thr112=)
c.351A=
n.492A=
11g.17387759G>ACA473515761KCNJ11c.105C>T (p.Val35=)
c.72C>T (p.Val24=)
c.333C>T (p.Val111=)
c.350C>T
n.491C>T
 COSMIC
11g.17387759G>CCA473515762KCNJ11c.105C>G (p.Val35=)
c.72C>G (p.Val24=)
c.333C>G (p.Val111=)
c.350C>G
n.491C>G
11g.17387759G>TCA473515763KCNJ11c.105C>A (p.Val35=)
c.72C>A (p.Val24=)
c.333C>A (p.Val111=)
c.350C>A
n.491C>A
11g.17387760A>CCA379774380KCNJ11c.104T>G (p.Val35Gly)
c.71T>G (p.Val24Gly)
c.332T>G (p.Val111Gly)
c.349T>G
n.490T>G
11g.17387760A>GCA379774382KCNJ11c.104T>C (p.Val35Ala)
c.71T>C (p.Val24Ala)
c.332T>C (p.Val111Ala)
c.349T>C
n.490T>C
11g.17387760A>TCA379774385KCNJ11c.104T>A (p.Val35Asp)
c.71T>A (p.Val24Asp)
c.332T>A (p.Val111Asp)
c.349T>A
n.490T>A
11g.17387763_17387764delCA2580615637KCNJ11c.103_104del (p.Val35HisfsTer15)
c.70_71del (p.Val24HisfsTer15)
c.331_332del (p.Val111HisfsTer15)
c.348_349del
n.489_490del
 ClinVar dbSNP
11g.17387761C>ACA379774389KCNJ11c.103G>T (p.Val35Phe)
c.70G>T (p.Val24Phe)
c.331G>T (p.Val111Phe)
c.348G>T
n.489G>T
11g.17387761C=CA1955119382KCNJ11c.103G= (p.Val35=)
c.70G= (p.Val24=)
c.331G= (p.Val111=)
c.348G=
n.489G=
11g.17387761C>GCA379774391KCNJ11c.103G>C (p.Val35Leu)
c.70G>C (p.Val24Leu)
c.331G>C (p.Val111Leu)
c.348G>C
n.489G>C
11g.17387761C>TCA218399995KCNJ11c.103G>A (p.Val35Ile)
c.70G>A (p.Val24Ile)
c.331G>A (p.Val111Ile)
c.348G>A
n.489G>A
 dbSNP
11g.17387762A>CCA379774399KCNJ11c.102T>G (p.Cys34Trp)
c.69T>G (p.Cys23Trp)
c.330T>G (p.Cys110Trp)
c.347T>G
n.488T>G
11g.17387762A>GCA473515764KCNJ11c.102T>C (p.Cys34=)
c.69T>C (p.Cys23=)
c.330T>C (p.Cys110=)
c.347T>C
n.488T>C
 ClinVar dbSNP
11g.17387762A>TCA379774397KCNJ11c.102T>A (p.Cys34Ter)
c.69T>A (p.Cys23Ter)
c.330T>A (p.Cys110Ter)
c.347T>A
n.488T>A
11g.17387763C>ACA379774404KCNJ11c.101G>T (p.Cys34Phe)
c.68G>T (p.Cys23Phe)
c.329G>T (p.Cys110Phe)
c.346G>T
n.487G>T
 ClinVar dbSNP COSMIC
11g.17387763C=CA1955119383KCNJ11c.101G= (p.Cys34=)
c.68G= (p.Cys23=)
c.329G= (p.Cys110=)
c.346G=
n.487G=
11g.17387763C>GCA379774406KCNJ11c.101G>C (p.Cys34Ser)
c.68G>C (p.Cys23Ser)
c.329G>C (p.Cys110Ser)
c.346G>C
n.487G>C
11g.17387763C>TCA379774409KCNJ11c.101G>A (p.Cys34Tyr)
c.68G>A (p.Cys23Tyr)
c.329G>A (p.Cys110Tyr)
c.346G>A
n.487G>A
11g.17387764A>CCA379774413KCNJ11c.100T>G (p.Cys34Gly)
c.67T>G (p.Cys23Gly)
c.328T>G (p.Cys110Gly)
c.345T>G
n.486T>G
11g.17387764A>GCA379774418KCNJ11c.100T>C (p.Cys34Arg)
c.67T>C (p.Cys23Arg)
c.328T>C (p.Cys110Arg)
c.345T>C
n.486T>C
11g.17387764A>TCA379774420KCNJ11c.100T>A (p.Cys34Ser)
c.67T>A (p.Cys23Ser)
c.328T>A (p.Cys110Ser)
c.345T>A
n.486T>A
11g.17387765G>ACA473515765KCNJ11c.99C>T (p.Pro33=)
c.66C>T (p.Pro22=)
c.327C>T (p.Pro109=)
c.344C>T
n.485C>T
11g.17387765G>CCA473515767KCNJ11c.99C>G (p.Pro33=)
c.66C>G (p.Pro22=)
c.327C>G (p.Pro109=)
c.344C>G
n.485C>G
11g.17387765G>TCA473515766KCNJ11c.99C>A (p.Pro33=)
c.66C>A (p.Pro22=)
c.327C>A (p.Pro109=)
c.344C>A
n.485C>A
11g.17387766G>ACA379774423KCNJ11c.98C>T (p.Pro33Leu)
c.65C>T (p.Pro22Leu)
c.326C>T (p.Pro109Leu)
c.343C>T
n.484C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17387766G>CCA379774424KCNJ11c.98C>G (p.Pro33Arg)
c.65C>G (p.Pro22Arg)
c.326C>G (p.Pro109Arg)
c.343C>G
n.484C>G
11g.17387766G=CA1955119384KCNJ11c.98C= (p.Pro33=)
c.65C= (p.Pro22=)
c.326C= (p.Pro109=)
c.343C=
n.484C=
11g.17387766G>TCA379774427KCNJ11c.98C>A (p.Pro33His)
c.65C>A (p.Pro22His)
c.326C>A (p.Pro109His)
c.343C>A
n.484C>A
11g.17387767G>ACA379774432KCNJ11c.97C>T (p.Pro33Ser)
c.64C>T (p.Pro22Ser)
c.325C>T (p.Pro109Ser)
c.342C>T
n.483C>T
 dbSNP
11g.17387767G>CCA379774435KCNJ11c.97C>G (p.Pro33Ala)
c.64C>G (p.Pro22Ala)
c.325C>G (p.Pro109Ala)
c.342C>G
n.483C>G

Number of alleles fetched