Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17387726_17387751delCA2695213246KCNJ11c.114_139del (p.His39LeufsTer3)
c.81_106del (p.His28LeufsTer3)
c.342_367del (p.His115LeufsTer3)
c.359_384del
n.500_525del
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.17387745G>ACA379774270KCNJ11c.119C>T (p.Ser40Phe)
c.86C>T (p.Ser29Phe)
c.347C>T (p.Ser116Phe)
c.364C>T
n.505C>T
11g.17387745G>CCA379774273KCNJ11c.119C>G (p.Ser40Cys)
c.86C>G (p.Ser29Cys)
c.347C>G (p.Ser116Cys)
c.364C>G
n.505C>G
11g.17387745G>TCA379774275KCNJ11c.119C>A (p.Ser40Tyr)
c.86C>A (p.Ser29Tyr)
c.347C>A (p.Ser116Tyr)
c.364C>A
n.505C>A
11g.17387746A=CA1955119377KCNJ11c.118T= (p.Ser40=)
c.85T= (p.Ser29=)
c.346T= (p.Ser116=)
c.363T=
n.504T=
11g.17387746A>CCA379774280KCNJ11c.118T>G (p.Ser40Ala)
c.85T>G (p.Ser29Ala)
c.346T>G (p.Ser116Ala)
c.363T>G
n.504T>G
11g.17387746A>GCA379774284KCNJ11c.118T>C (p.Ser40Pro)
c.85T>C (p.Ser29Pro)
c.346T>C (p.Ser116Pro)
c.363T>C
n.504T>C
 ClinVar dbSNP gnomAD v4
11g.17387746A>TCA379774286KCNJ11c.118T>A (p.Ser40Thr)
c.85T>A (p.Ser29Thr)
c.346T>A (p.Ser116Thr)
c.363T>A
n.504T>A
11g.17387747G>ACA218399978KCNJ11c.117C>T (p.His39=)
c.84C>T (p.His28=)
c.345C>T (p.His115=)
c.362C>T
n.503C>T
 dbSNP
11g.17387747G>CCA379774292KCNJ11c.117C>G (p.His39Gln)
c.84C>G (p.His28Gln)
c.345C>G (p.His115Gln)
c.362C>G
n.503C>G
11g.17387747G=CA1955119378KCNJ11c.117C= (p.His39=)
c.84C= (p.His28=)
c.345C= (p.His115=)
c.362C=
n.503C=
11g.17387747G>TCA379774294KCNJ11c.117C>A (p.His39Gln)
c.84C>A (p.His28Gln)
c.345C>A (p.His115Gln)
c.362C>A
n.503C>A
11g.17387748T>ACA379774304KCNJ11c.116A>T (p.His39Leu)
c.83A>T (p.His28Leu)
c.344A>T (p.His115Leu)
c.361A>T
n.502A>T
 ClinVar
11g.17387748T>CCA218399984KCNJ11c.116A>G (p.His39Arg)
c.83A>G (p.His28Arg)
c.344A>G (p.His115Arg)
c.361A>G
n.502A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17387748T>GCA379774299KCNJ11c.116A>C (p.His39Pro)
c.83A>C (p.His28Pro)
c.344A>C (p.His115Pro)
c.361A>C
n.502A>C
11g.17387748T=CA1955119379KCNJ11c.116A= (p.His39=)
c.83A= (p.His28=)
c.344A= (p.His115=)
c.361A=
n.502A=
11g.17387749G>ACA379774309KCNJ11c.115C>T (p.His39Tyr)
c.82C>T (p.His28Tyr)
c.343C>T (p.His115Tyr)
c.360C>T
n.501C>T
11g.17387749G>CCA379774311KCNJ11c.115C>G (p.His39Asp)
c.82C>G (p.His28Asp)
c.343C>G (p.His115Asp)
c.360C>G
n.501C>G
11g.17387749G>TCA379774315KCNJ11c.115C>A (p.His39Asn)
c.82C>A (p.His28Asn)
c.343C>A (p.His115Asn)
c.360C>A
n.501C>A
11g.17387750G>ACA473515656KCNJ11c.114C>T (p.Ile38=)
c.81C>T (p.Ile27=)
c.342C>T (p.Ile114=)
c.359C>T
n.500C>T
11g.17387750G>CCA379774318KCNJ11c.114C>G (p.Ile38Met)
c.81C>G (p.Ile27Met)
c.342C>G (p.Ile114Met)
c.359C>G
n.500C>G
11g.17387750G>TCA473515657KCNJ11c.114C>A (p.Ile38=)
c.81C>A (p.Ile27=)
c.342C>A (p.Ile114=)
c.359C>A
n.500C>A
11g.17387751A>CCA379774319KCNJ11c.113T>G (p.Ile38Ser)
c.80T>G (p.Ile27Ser)
c.341T>G (p.Ile114Ser)
c.358T>G
n.499T>G
11g.17387751A>GCA379774320KCNJ11c.113T>C (p.Ile38Thr)
c.80T>C (p.Ile27Thr)
c.341T>C (p.Ile114Thr)
c.358T>C
n.499T>C
11g.17387751A>TCA379774322KCNJ11c.113T>A (p.Ile38Asn)
c.80T>A (p.Ile27Asn)
c.341T>A (p.Ile114Asn)
c.358T>A
n.499T>A
11g.17387752T>ACA379774328KCNJ11c.112A>T (p.Ile38Phe)
c.79A>T (p.Ile27Phe)
c.340A>T (p.Ile114Phe)
c.357A>T
n.498A>T
11g.17387752T>CCA379774329KCNJ11c.112A>G (p.Ile38Val)
c.79A>G (p.Ile27Val)
c.340A>G (p.Ile114Val)
c.357A>G
n.498A>G
11g.17387752T>GCA379774332KCNJ11c.112A>C (p.Ile38Leu)
c.79A>C (p.Ile27Leu)
c.340A>C (p.Ile114Leu)
c.357A>C
n.498A>C
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

Number of alleles fetched