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.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
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
11g.17387767G=CA1955119385KCNJ11c.97C= (p.Pro33=)
c.64C= (p.Pro22=)
c.325C= (p.Pro109=)
c.342C=
n.483C=
11g.17387767G>TCA5902302KCNJ11c.97C>A (p.Pro33Thr)
c.64C>A (p.Pro22Thr)
c.325C>A (p.Pro109Thr)
c.342C>A
n.483C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387768C>ACA379774444KCNJ11c.96G>T (p.Glu32Asp)
c.63G>T (p.Glu21Asp)
c.324G>T (p.Glu108Asp)
c.341G>T
n.482G>T
11g.17387768C>GCA379774442KCNJ11c.96G>C (p.Glu32Asp)
c.63G>C (p.Glu21Asp)
c.324G>C (p.Glu108Asp)
c.341G>C
n.482G>C
 ClinVar
11g.17387768C>TCA473515768KCNJ11c.96G>A (p.Glu32=)
c.63G>A (p.Glu21=)
c.324G>A (p.Glu108=)
c.341G>A
n.482G>A
11g.17387769T>ACA379774448KCNJ11c.95A>T (p.Glu32Val)
c.62A>T (p.Glu21Val)
c.323A>T (p.Glu108Val)
c.340A>T
n.481A>T
11g.17387769T>CCA379774451KCNJ11c.95A>G (p.Glu32Gly)
c.62A>G (p.Glu21Gly)
c.323A>G (p.Glu108Gly)
c.340A>G
n.481A>G
11g.17387769T>GCA379774453KCNJ11c.95A>C (p.Glu32Ala)
c.62A>C (p.Glu21Ala)
c.323A>C (p.Glu108Ala)
c.340A>C
n.481A>C
11g.17387770C>ACA379774457KCNJ11c.94G>T (p.Glu32Ter)
c.61G>T (p.Glu21Ter)
c.322G>T (p.Glu108Ter)
c.339G>T
n.480G>T
11g.17387770C=CA1955119386KCNJ11c.94G= (p.Glu32=)
c.61G= (p.Glu21=)
c.322G= (p.Glu108=)
c.339G=
n.480G=
11g.17387770C>GCA379774460KCNJ11c.94G>C (p.Glu32Gln)
c.61G>C (p.Glu21Gln)
c.322G>C (p.Glu108Gln)
c.339G>C
n.480G>C
11g.17387770C>TCA379774462KCNJ11c.94G>A (p.Glu32Lys)
c.61G>A (p.Glu21Lys)
c.322G>A (p.Glu108Lys)
c.339G>A
n.480G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17387771A>CCA473515769KCNJ11c.93T>G (p.Ala31=)
c.60T>G (p.Ala20=)
c.321T>G (p.Ala107=)
c.338T>G
n.479T>G
11g.17387771A>GCA473515771KCNJ11c.93T>C (p.Ala31=)
c.60T>C (p.Ala20=)
c.321T>C (p.Ala107=)
c.338T>C
n.479T>C
11g.17387771A>TCA473515770KCNJ11c.93T>A (p.Ala31=)
c.60T>A (p.Ala20=)
c.321T>A (p.Ala107=)
c.338T>A
n.479T>A
11g.17387771_17387772insAACA2790574787KCNJ11c.93_94insTT (p.Glu32LeufsTer23)
c.60_61insTT (p.Glu21LeufsTer23)
c.321_322insTT (p.Glu108LeufsTer23)
c.338_339insTT
n.479_480insTT
11g.17387772G>ACA379774465KCNJ11c.92C>T (p.Ala31Val)
c.59C>T (p.Ala20Val)
c.320C>T (p.Ala107Val)
c.337C>T
n.478C>T
11g.17387772G>CCA379774466KCNJ11c.92C>G (p.Ala31Gly)
c.59C>G (p.Ala20Gly)
c.320C>G (p.Ala107Gly)
c.337C>G
n.478C>G
11g.17387772G>TCA379774468KCNJ11c.92C>A (p.Ala31Asp)
c.59C>A (p.Ala20Asp)
c.320C>A (p.Ala107Asp)
c.337C>A
n.478C>A
11g.17387773C>ACA379774474KCNJ11c.91G>T (p.Ala31Ser)
c.58G>T (p.Ala20Ser)
c.319G>T (p.Ala107Ser)
c.336G>T
n.477G>T
11g.17387773C>GCA379774475KCNJ11c.91G>C (p.Ala31Pro)
c.58G>C (p.Ala20Pro)
c.319G>C (p.Ala107Pro)
c.336G>C
n.477G>C
11g.17387773C>TCA379774477KCNJ11c.91G>A (p.Ala31Thr)
c.58G>A (p.Ala20Thr)
c.319G>A (p.Ala107Thr)
c.336G>A
n.477G>A
 gnomAD v4
11g.17387774A>CCA473515772KCNJ11c.90T>G (p.Thr30=)
c.57T>G (p.Thr19=)
c.318T>G (p.Thr106=)
c.335T>G
n.476T>G
11g.17387774A>GCA473515773KCNJ11c.90T>C (p.Thr30=)
c.57T>C (p.Thr19=)
c.318T>C (p.Thr106=)
c.335T>C
n.476T>C
11g.17387774A>TCA473515774KCNJ11c.90T>A (p.Thr30=)
c.57T>A (p.Thr19=)
c.318T>A (p.Thr106=)
c.335T>A
n.476T>A
11g.17387775delCA2739276316KCNJ11c.89del (p.Thr30MetfsTer24)
c.56del (p.Thr19MetfsTer24)
c.317del (p.Thr106MetfsTer24)
c.334del
n.475del
 ClinVar
11g.17387775G>ACA379774483KCNJ11c.89C>T (p.Thr30Ile)
c.56C>T (p.Thr19Ile)
c.317C>T (p.Thr106Ile)
c.334C>T
n.475C>T
 ClinVar
11g.17387775G>CCA379774486KCNJ11c.89C>G (p.Thr30Ser)
c.56C>G (p.Thr19Ser)
c.317C>G (p.Thr106Ser)
c.334C>G
n.475C>G
11g.17387775G>TCA379774481KCNJ11c.89C>A (p.Thr30Asn)
c.56C>A (p.Thr19Asn)
c.317C>A (p.Thr106Asn)
c.334C>A
n.475C>A
11g.17387776T>ACA379774489KCNJ11c.88A>T (p.Thr30Ser)
c.55A>T (p.Thr19Ser)
c.316A>T (p.Thr106Ser)
c.333A>T
n.474A>T
11g.17387776T>CCA379774492KCNJ11c.88A>G (p.Thr30Ala)
c.55A>G (p.Thr19Ala)
c.316A>G (p.Thr106Ala)
c.333A>G
n.474A>G
11g.17387776T>GCA379774493KCNJ11c.88A>C (p.Thr30Pro)
c.55A>C (p.Thr19Pro)
c.316A>C (p.Thr106Pro)
c.333A>C
n.474A>C
 gnomAD v4
11g.17387776_17387777insCCGGGACCTCCGTGCA2790574798KCNJ11c.87_88insCACGGAGGTCCCGG (p.Thr30HisfsTer29)
c.54_55insCACGGAGGTCCCGG (p.Thr19HisfsTer29)
c.315_316insCACGGAGGTCCCGG (p.Thr106HisfsTer29)
c.332_333insCACGGAGGTCCCGG
n.473_474insCACGGAGGTCCCGG
11g.17387777G>ACA473515775KCNJ11c.87C>T (p.Gly29=)
c.54C>T (p.Gly18=)
c.315C>T (p.Gly105=)
c.332C>T
n.473C>T
11g.17387777G>CCA473515776KCNJ11c.87C>G (p.Gly29=)
c.54C>G (p.Gly18=)
c.315C>G (p.Gly105=)
c.332C>G
n.473C>G
11g.17387777G>TCA473515777KCNJ11c.87C>A (p.Gly29=)
c.54C>A (p.Gly18=)
c.315C>A (p.Gly105=)
c.332C>A
n.473C>A
11g.17387778C>ACA379774496KCNJ11c.86G>T (p.Gly29Val)
c.53G>T (p.Gly18Val)
c.314G>T (p.Gly105Val)
c.331G>T
n.472G>T
 dbSNP
11g.17387778C=CA1955119387KCNJ11c.86G= (p.Gly29=)
c.53G= (p.Gly18=)
c.314G= (p.Gly105=)
c.331G=
n.472G=
11g.17387778C>GCA379774498KCNJ11c.86G>C (p.Gly29Ala)
c.53G>C (p.Gly18Ala)
c.314G>C (p.Gly105Ala)
c.331G>C
n.472G>C
11g.17387778C>TCA379774501KCNJ11c.86G>A (p.Gly29Asp)
c.53G>A (p.Gly18Asp)
c.314G>A (p.Gly105Asp)
c.331G>A
n.472G>A
11g.17387779C>ACA379774504KCNJ11c.85G>T (p.Gly29Cys)
c.52G>T (p.Gly18Cys)
c.313G>T (p.Gly105Cys)
c.330G>T
n.471G>T
11g.17387779C>GCA379774508KCNJ11c.85G>C (p.Gly29Arg)
c.52G>C (p.Gly18Arg)
c.313G>C (p.Gly105Arg)
c.330G>C
n.471G>C
11g.17387779C>TCA379774505KCNJ11c.85G>A (p.Gly29Ser)
c.52G>A (p.Gly18Ser)
c.313G>A (p.Gly105Ser)
c.330G>A
n.471G>A
11g.17387779_17387780insGGGCA2790574801KCNJ11c.84_85insCCC (p.Glu28_Gly29insPro)
c.51_52insCCC (p.Glu17_Gly18insPro)
c.312_313insCCC (p.Glu104_Gly105insPro)
c.329_330insCCC
n.470_471insCCC
11g.17387780C>ACA379774512KCNJ11c.84G>T (p.Glu28Asp)
c.51G>T (p.Glu17Asp)
c.312G>T (p.Glu104Asp)
c.329G>T
n.470G>T
11g.17387780C>GCA379774513KCNJ11c.84G>C (p.Glu28Asp)
c.51G>C (p.Glu17Asp)
c.312G>C (p.Glu104Asp)
c.329G>C
n.470G>C
 gnomAD v4
11g.17387780C>TCA473515778KCNJ11c.84G>A (p.Glu28=)
c.51G>A (p.Glu17=)
c.312G>A (p.Glu104=)
c.329G>A
n.470G>A
11g.17387781T>ACA379774517KCNJ11c.83A>T (p.Glu28Val)
c.50A>T (p.Glu17Val)
c.311A>T (p.Glu104Val)
c.328A>T
n.469A>T
11g.17387781T>CCA379774519KCNJ11c.83A>G (p.Glu28Gly)
c.50A>G (p.Glu17Gly)
c.311A>G (p.Glu104Gly)
c.328A>G
n.469A>G
11g.17387781T>GCA379774522KCNJ11c.83A>C (p.Glu28Ala)
c.50A>C (p.Glu17Ala)
c.311A>C (p.Glu104Ala)
c.328A>C
n.469A>C
11g.17387781_17387782insGCA2790574802KCNJ11c.82_83insC (p.Glu28AlafsTer5)
c.49_50insC (p.Glu17AlafsTer5)
c.310_311insC (p.Glu104AlafsTer5)
c.327_328insC
n.468_469insC
11g.17387782C>ACA379774529KCNJ11c.82G>T (p.Glu28Ter)
c.49G>T (p.Glu17Ter)
c.310G>T (p.Glu104Ter)
c.327G>T
n.468G>T
11g.17387782C=CA1955119388KCNJ11c.82G= (p.Glu28=)
c.49G= (p.Glu17=)
c.310G= (p.Glu104=)
c.327G=
n.468G=
11g.17387782C>GCA379774531KCNJ11c.82G>C (p.Glu28Gln)
c.49G>C (p.Glu17Gln)
c.310G>C (p.Glu104Gln)
c.327G>C
n.468G>C
 dbSNP
11g.17387782C>TCA5902303KCNJ11c.82G>A (p.Glu28Lys)
c.49G>A (p.Glu17Lys)
c.310G>A (p.Glu104Lys)
c.327G>A
n.468G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387783G>ACA5902304KCNJ11c.81C>T (p.Ser27=)
c.48C>T (p.Ser16=)
c.309C>T (p.Ser103=)
c.326C>T
n.467C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387783G>CCA379774536KCNJ11c.81C>G (p.Ser27Arg)
c.48C>G (p.Ser16Arg)
c.309C>G (p.Ser103Arg)
c.326C>G
n.467C>G
11g.17387783G=CA1955119389KCNJ11c.81C= (p.Ser27=)
c.48C= (p.Ser16=)
c.309C= (p.Ser103=)
c.326C=
n.467C=
11g.17387783G>TCA5902305KCNJ11c.81C>A (p.Ser27Arg)
c.48C>A (p.Ser16Arg)
c.309C>A (p.Ser103Arg)
c.326C>A
n.467C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387784C>ACA218400013KCNJ11c.80G>T (p.Ser27Ile)
c.47G>T (p.Ser16Ile)
c.308G>T (p.Ser103Ile)
c.325G>T
n.466G>T
 dbSNP gnomAD v3 gnomAD v4
11g.17387784C=CA1955119390KCNJ11c.80G= (p.Ser27=)
c.47G= (p.Ser16=)
c.308G= (p.Ser103=)
c.325G=
n.466G=
11g.17387784C>GCA379774552KCNJ11c.80G>C (p.Ser27Thr)
c.47G>C (p.Ser16Thr)
c.308G>C (p.Ser103Thr)
c.325G>C
n.466G>C
11g.17387784C>TCA379774550KCNJ11c.80G>A (p.Ser27Asn)
c.47G>A (p.Ser16Asn)
c.308G>A (p.Ser103Asn)
c.325G>A
n.466G>A
 dbSNP gnomAD v4
11g.17387785T>ACA379774555KCNJ11c.79A>T (p.Ser27Cys)
c.46A>T (p.Ser16Cys)
c.307A>T (p.Ser103Cys)
c.324A>T
n.465A>T
11g.17387785T>CCA379774559KCNJ11c.79A>G (p.Ser27Gly)
c.46A>G (p.Ser16Gly)
c.307A>G (p.Ser103Gly)
c.324A>G
n.465A>G
11g.17387785T>GCA379774561KCNJ11c.79A>C (p.Ser27Arg)
c.46A>C (p.Ser16Arg)
c.307A>C (p.Ser103Arg)
c.324A>C
n.465A>C
11g.17387786G>ACA5902306KCNJ11c.78C>T (p.Pro26=)
c.45C>T (p.Pro15=)
c.306C>T (p.Pro102=)
c.323C>T
n.464C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387786G>CCA473515780KCNJ11c.78C>G (p.Pro26=)
c.45C>G (p.Pro15=)
c.306C>G (p.Pro102=)
c.323C>G
n.464C>G
11g.17387786G=CA1955119391KCNJ11c.78C= (p.Pro26=)
c.45C= (p.Pro15=)
c.306C= (p.Pro102=)
c.323C=
n.464C=
11g.17387786G>TCA473515779KCNJ11c.78C>A (p.Pro26=)
c.45C>A (p.Pro15=)
c.306C>A (p.Pro102=)
c.323C>A
n.464C>A
 dbSNP
11g.17387790delCA645577918KCNJ11c.78del (p.Ser27AlafsTer27)
c.45del (p.Ser16AlafsTer27)
c.306del (p.Ser103AlafsTer27)
c.323del
n.464del
 COSMIC
11g.17387786_17387787insCACA2790574807KCNJ11c.77_78insTG (p.Ser27AlafsTer28)
c.44_45insTG (p.Ser16AlafsTer28)
c.305_306insTG (p.Ser103AlafsTer28)
c.322_323insTG
n.463_464insTG
11g.17387787G>ACA379774570KCNJ11c.77C>T (p.Pro26Leu)
c.44C>T (p.Pro15Leu)
c.305C>T (p.Pro102Leu)
c.322C>T
n.463C>T
 dbSNP gnomAD v3 gnomAD v4
11g.17387787G>CCA379774572KCNJ11c.77C>G (p.Pro26Arg)
c.44C>G (p.Pro15Arg)
c.305C>G (p.Pro102Arg)
c.322C>G
n.463C>G
 gnomAD v4
11g.17387787G=CA1955119392KCNJ11c.77C= (p.Pro26=)
c.44C= (p.Pro15=)
c.305C= (p.Pro102=)
c.322C=
n.463C=
11g.17387787G>TCA379774576KCNJ11c.77C>A (p.Pro26His)
c.44C>A (p.Pro15His)
c.305C>A (p.Pro102His)
c.322C>A
n.463C>A
11g.17387787_17387788insCCCA2790574808KCNJ11c.76_77insGG (p.Pro26ArgfsTer29)
c.43_44insGG (p.Pro15ArgfsTer29)
c.304_305insGG (p.Pro102ArgfsTer29)
c.321_322insGG
n.462_463insGG
11g.17387788G>ACA379774580KCNJ11c.76C>T (p.Pro26Ser)
c.43C>T (p.Pro15Ser)
c.304C>T (p.Pro102Ser)
c.321C>T
n.462C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17387788G>CCA379774581KCNJ11c.76C>G (p.Pro26Ala)
c.43C>G (p.Pro15Ala)
c.304C>G (p.Pro102Ala)
c.321C>G
n.462C>G
11g.17387788G=CA1955119393KCNJ11c.76C= (p.Pro26=)
c.43C= (p.Pro15=)
c.304C= (p.Pro102=)
c.321C=
n.462C=
11g.17387788G>TCA379774582KCNJ11c.76C>A (p.Pro26Thr)
c.43C>A (p.Pro15Thr)
c.304C>A (p.Pro102Thr)
c.321C>A
n.462C>A
 gnomAD v4
11g.17387789G>ACA5902307KCNJ11c.75C>T (p.Ala25=)
c.42C>T (p.Ala14=)
c.303C>T (p.Ala101=)
c.320C>T
n.461C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387789G>CCA473515781KCNJ11c.75C>G (p.Ala25=)
c.42C>G (p.Ala14=)
c.303C>G (p.Ala101=)
c.320C>G
n.461C>G
11g.17387789G=CA1955119394KCNJ11c.75C= (p.Ala25=)
c.42C= (p.Ala14=)
c.303C= (p.Ala101=)
c.320C=
n.461C=
11g.17387789G>TCA473515782KCNJ11c.75C>A (p.Ala25=)
c.42C>A (p.Ala14=)
c.303C>A (p.Ala101=)
c.320C>A
n.461C>A
11g.17387790G>ACA379774597KCNJ11c.74C>T (p.Ala25Val)
c.41C>T (p.Ala14Val)
c.302C>T (p.Ala101Val)
c.319C>T
n.460C>T
11g.17387790G>CCA379774592KCNJ11c.74C>G (p.Ala25Gly)
c.41C>G (p.Ala14Gly)
c.302C>G (p.Ala101Gly)
c.319C>G
n.460C>G
 dbSNP gnomAD v2 gnomAD v4
11g.17387790G=CA1955119395KCNJ11c.74C= (p.Ala25=)
c.41C= (p.Ala14=)
c.302C= (p.Ala101=)
c.319C=
n.460C=
11g.17387790G>TCA218400036KCNJ11c.74C>A (p.Ala25Asp)
c.41C>A (p.Ala14Asp)
c.302C>A (p.Ala101Asp)
c.319C>A
n.460C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17387790_17387791insTGCCGTGGTCA2790574813KCNJ11c.73_74insACCACGGCA (p.Ala25delinsAspHisGlyThr)
c.40_41insACCACGGCA (p.Ala14delinsAspHisGlyThr)
c.301_302insACCACGGCA (p.Ala101delinsAspHisGlyThr)
c.318_319insACCACGGCA
n.459_460insACCACGGCA
11g.17387791C>ACA379774603KCNJ11c.73G>T (p.Ala25Ser)
c.40G>T (p.Ala14Ser)
c.301G>T (p.Ala101Ser)
c.318G>T
n.459G>T
 dbSNP gnomAD v3 gnomAD v4
11g.17387791C=CA1955119396KCNJ11c.73G= (p.Ala25=)
c.40G= (p.Ala14=)
c.301G= (p.Ala101=)
c.318G=
n.459G=
11g.17387791C>GCA379774606KCNJ11c.73G>C (p.Ala25Pro)
c.40G>C (p.Ala14Pro)
c.301G>C (p.Ala101Pro)
c.318G>C
n.459G>C
11g.17387791C>TCA379774610KCNJ11c.73G>A (p.Ala25Thr)
c.40G>A (p.Ala14Thr)
c.301G>A (p.Ala101Thr)
c.318G>A
n.459G>A
11g.17387792C>ACA473515783KCNJ11c.72G>T (p.Leu24=)
c.39G>T (p.Leu13=)
c.300G>T (p.Leu100=)
c.317G>T
n.458G>T
11g.17387792C>GCA473515784KCNJ11c.72G>C (p.Leu24=)
c.39G>C (p.Leu13=)
c.300G>C (p.Leu100=)
c.317G>C
n.458G>C
11g.17387792C>TCA473515785KCNJ11c.72G>A (p.Leu24=)
c.39G>A (p.Leu13=)
c.300G>A (p.Leu100=)
c.317G>A
n.458G>A
11g.17387793A>CCA379774615KCNJ11c.71T>G (p.Leu24Arg)
c.38T>G (p.Leu13Arg)
c.299T>G (p.Leu100Arg)
c.316T>G
n.457T>G
11g.17387793A>GCA379774618KCNJ11c.71T>C (p.Leu24Pro)
c.38T>C (p.Leu13Pro)
c.299T>C (p.Leu100Pro)
c.316T>C
n.457T>C
 gnomAD v4
11g.17387793A>TCA379774623KCNJ11c.71T>A (p.Leu24Gln)
c.38T>A (p.Leu13Gln)
c.299T>A (p.Leu100Gln)
c.316T>A
n.457T>A
11g.17387793_17387794delinsAGCA1955119397KCNJ11c.70_71delinsCT (p.Leu24=)
c.37_38delinsCT (p.Leu13=)
c.298_299delinsCT (p.Leu100=)
c.315_316delinsCT
n.456_457delinsCT
11g.17387794G>ACA473515786KCNJ11c.70C>T (p.Leu24=)
c.37C>T (p.Leu13=)
c.298C>T (p.Leu100=)
c.315C>T
n.456C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.17387794G>CCA379774628KCNJ11c.70C>G (p.Leu24Val)
c.37C>G (p.Leu13Val)
c.298C>G (p.Leu100Val)
c.315C>G
n.456C>G
11g.17387794G=CA1955119398KCNJ11c.70C= (p.Leu24=)
c.37C= (p.Leu13=)
c.298C= (p.Leu100=)
c.315C=
n.456C=
11g.17387794G>TCA379774631KCNJ11c.70C>A (p.Leu24Met)
c.37C>A (p.Leu13Met)
c.298C>A (p.Leu100Met)
c.315C>A
n.456C>A
11g.17387795delCA5902308KCNJ11c.70del (p.Leu24TrpfsTer30)
c.37del (p.Leu13TrpfsTer30)
c.298del (p.Leu100TrpfsTer30)
c.315del
n.456del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387795G>ACA473515787KCNJ11c.69C>T (p.Asp23=)
c.36C>T (p.Asp12=)
c.297C>T (p.Asp99=)
c.314C>T
n.455C>T
11g.17387795G>CCA379774650KCNJ11c.69C>G (p.Asp23Glu)
c.36C>G (p.Asp12Glu)
c.297C>G (p.Asp99Glu)
c.314C>G
n.455C>G
11g.17387795G>TCA379774653KCNJ11c.69C>A (p.Asp23Glu)
c.36C>A (p.Asp12Glu)
c.297C>A (p.Asp99Glu)
c.314C>A
n.455C>A
11g.17387796T>ACA379774668KCNJ11c.68A>T (p.Asp23Val)
c.35A>T (p.Asp12Val)
c.296A>T (p.Asp99Val)
c.313A>T
n.454A>T
11g.17387796T>CCA379774665KCNJ11c.68A>G (p.Asp23Gly)
c.35A>G (p.Asp12Gly)
c.296A>G (p.Asp99Gly)
c.313A>G
n.454A>G
 gnomAD v4
11g.17387796T>GCA379774659KCNJ11c.68A>C (p.Asp23Ala)
c.35A>C (p.Asp12Ala)
c.296A>C (p.Asp99Ala)
c.313A>C
n.454A>C
11g.17387797C>ACA379774673KCNJ11c.67G>T (p.Asp23Tyr)
c.34G>T (p.Asp12Tyr)
c.295G>T (p.Asp99Tyr)
c.312G>T
n.453G>T
11g.17387797C>GCA379774678KCNJ11c.67G>C (p.Asp23His)
c.34G>C (p.Asp12His)
c.295G>C (p.Asp99His)
c.312G>C
n.453G>C
11g.17387797C>TCA379774680KCNJ11c.67G>A (p.Asp23Asn)
c.34G>A (p.Asp12Asn)
c.295G>A (p.Asp99Asn)
c.312G>A
n.453G>A
 gnomAD v4
11g.17387798A>CCA473515788KCNJ11c.66T>G (p.Gly22=)
c.33T>G (p.Gly11=)
c.294T>G (p.Gly98=)
c.311T>G
n.452T>G
11g.17387798A>GCA473515789KCNJ11c.66T>C (p.Gly22=)
c.33T>C (p.Gly11=)
c.294T>C (p.Gly98=)
c.311T>C
n.452T>C
11g.17387798A>TCA473515790KCNJ11c.66T>A (p.Gly22=)
c.33T>A (p.Gly11=)
c.294T>A (p.Gly98=)
c.311T>A
n.452T>A
11g.17387799C>ACA379774684KCNJ11c.65G>T (p.Gly22Val)
c.32G>T (p.Gly11Val)
c.293G>T (p.Gly98Val)
c.310G>T
n.451G>T
11g.17387799C=CA1955119399KCNJ11c.65G= (p.Gly22=)
c.32G= (p.Gly11=)
c.293G= (p.Gly98=)
c.310G=
n.451G=
11g.17387799C>GCA379774687KCNJ11c.65G>C (p.Gly22Ala)
c.32G>C (p.Gly11Ala)
c.293G>C (p.Gly98Ala)
c.310G>C
n.451G>C
11g.17387799C>TCA5902309KCNJ11c.65G>A (p.Gly22Asp)
c.32G>A (p.Gly11Asp)
c.293G>A (p.Gly98Asp)
c.310G>A
n.451G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387799_17387800delinsTTCA645577919KCNJ11c.64_65delinsAA (p.Gly22Asn)
c.31_32delinsAA (p.Gly11Asn)
c.292_293delinsAA (p.Gly98Asn)
c.309_310delinsAA
n.450_451delinsAA
 COSMIC
11g.17387800C>ACA379774696KCNJ11c.64G>T (p.Gly22Cys)
c.31G>T (p.Gly11Cys)
c.292G>T (p.Gly98Cys)
c.309G>T
n.450G>T
11g.17387800C=CA1955119400KCNJ11c.64G= (p.Gly22=)
c.31G= (p.Gly11=)
c.292G= (p.Gly98=)
c.309G=
n.450G=
11g.17387800C>GCA379774700KCNJ11c.64G>C (p.Gly22Arg)
c.31G>C (p.Gly11Arg)
c.292G>C (p.Gly98Arg)
c.309G>C
n.450G>C
11g.17387800C>TCA379774702KCNJ11c.64G>A (p.Gly22Ser)
c.31G>A (p.Gly11Ser)
c.292G>A (p.Gly98Ser)
c.309G>A
n.450G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.17387801G>ACA5902310KCNJ11c.63C>T (p.His21=)
c.30C>T (p.His10=)
c.291C>T (p.His97=)
c.308C>T
n.449C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387801G>CCA379774712KCNJ11c.63C>G (p.His21Gln)
c.30C>G (p.His10Gln)
c.291C>G (p.His97Gln)
c.308C>G
n.449C>G
11g.17387801G=CA1955119401KCNJ11c.63C= (p.His21=)
c.30C= (p.His10=)
c.291C= (p.His97=)
c.308C=
n.449C=
11g.17387801G>TCA5902311KCNJ11c.63C>A (p.His21Gln)
c.30C>A (p.His10Gln)
c.291C>A (p.His97Gln)
c.308C>A
n.449C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387801dupCA912971885KCNJ11c.63dup (p.Gly22ArgfsTer2)
c.30dup (p.Gly11ArgfsTer2)
c.291dup (p.Gly98ArgfsTer2)
c.308dup
n.449dup
11g.17387802T>ACA379774744KCNJ11c.62A>T (p.His21Leu)
c.29A>T (p.His10Leu)
c.290A>T (p.His97Leu)
c.307A>T
n.448A>T
11g.17387802T>CCA379774742KCNJ11c.62A>G (p.His21Arg)
c.29A>G (p.His10Arg)
c.290A>G (p.His97Arg)
c.307A>G
n.448A>G
11g.17387802T>GCA379774738KCNJ11c.62A>C (p.His21Pro)
c.29A>C (p.His10Pro)
c.290A>C (p.His97Pro)
c.307A>C
n.448A>C
11g.17387802dupCA658822456KCNJ11c.62dup (p.His21GlnfsTer3)
c.29dup (p.His10GlnfsTer3)
c.290dup (p.His97GlnfsTer3)
c.307dup
n.448dup
 ClinVar dbSNP
11g.17387803G>ACA379774748KCNJ11c.61C>T (p.His21Tyr)
c.28C>T (p.His10Tyr)
c.289C>T (p.His97Tyr)
c.306C>T
n.447C>T
 gnomAD v4
11g.17387803G>CCA379774751KCNJ11c.61C>G (p.His21Asp)
c.28C>G (p.His10Asp)
c.289C>G (p.His97Asp)
c.306C>G
n.447C>G
11g.17387803G>TCA379774755KCNJ11c.61C>A (p.His21Asn)
c.28C>A (p.His10Asn)
c.289C>A (p.His97Asn)
c.306C>A
n.447C>A
11g.17387804G>ACA473515791KCNJ11c.60C>T (p.Ala20=)
c.27C>T (p.Ala9=)
c.288C>T (p.Ala96=)
c.305C>T
n.446C>T
11g.17387804G>CCA473515792KCNJ11c.60C>G (p.Ala20=)
c.27C>G (p.Ala9=)
c.288C>G (p.Ala96=)
c.305C>G
n.446C>G
11g.17387804G>TCA473515793KCNJ11c.60C>A (p.Ala20=)
c.27C>A (p.Ala9=)
c.288C>A (p.Ala96=)
c.305C>A
n.446C>A
11g.17387804_17387805delinsCACA2695213249KCNJ11c.59_60delinsTG (p.Ala20Val)
c.26_27delinsTG (p.Ala9Val)
c.287_288delinsTG (p.Ala96Val)
c.304_305delinsTG
n.445_446delinsTG
11g.17387805G>ACA379774758KCNJ11c.59C>T (p.Ala20Val)
c.26C>T (p.Ala9Val)
c.287C>T (p.Ala96Val)
c.304C>T
n.445C>T
 gnomAD v4
11g.17387805G>CCA379774761KCNJ11c.59C>G (p.Ala20Gly)
c.26C>G (p.Ala9Gly)
c.287C>G (p.Ala96Gly)
c.304C>G
n.445C>G
11g.17387805G>TCA379774764KCNJ11c.59C>A (p.Ala20Asp)
c.26C>A (p.Ala9Asp)
c.287C>A (p.Ala96Asp)
c.304C>A
n.445C>A
11g.17387806C>ACA379774771KCNJ11c.58G>T (p.Ala20Ser)
c.25G>T (p.Ala9Ser)
c.286G>T (p.Ala96Ser)
c.303G>T
n.444G>T
 gnomAD v4
11g.17387806C=CA1955119402KCNJ11c.58G= (p.Ala20=)
c.25G= (p.Ala9=)
c.286G= (p.Ala96=)
c.303G=
n.444G=
11g.17387806C>GCA379774775KCNJ11c.58G>C (p.Ala20Pro)
c.25G>C (p.Ala9Pro)
c.286G>C (p.Ala96Pro)
c.303G>C
n.444G>C
11g.17387806C>TCA5902312KCNJ11c.58G>A (p.Ala20Thr)
c.25G>A (p.Ala9Thr)
c.286G>A (p.Ala96Thr)
c.303G>A
n.444G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387807G>ACA5902313KCNJ11c.57C>T (p.Phe19=)
c.24C>T (p.Phe8=)
c.285C>T (p.Phe95=)
c.302C>T
n.443C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387807G>CCA379774782KCNJ11c.57C>G (p.Phe19Leu)
c.24C>G (p.Phe8Leu)
c.285C>G (p.Phe95Leu)
c.302C>G
n.443C>G
11g.17387807G=CA1955119403KCNJ11c.57C= (p.Phe19=)
c.24C= (p.Phe8=)
c.285C= (p.Phe95=)
c.302C=
n.443C=
11g.17387807G>TCA379774783KCNJ11c.57C>A (p.Phe19Leu)
c.24C>A (p.Phe8Leu)
c.285C>A (p.Phe95Leu)
c.302C>A
n.443C>A
11g.17387808A>CCA379774794KCNJ11c.56T>G (p.Phe19Cys)
c.23T>G (p.Phe8Cys)
c.284T>G (p.Phe95Cys)
c.301T>G
n.442T>G
11g.17387808A>GCA379774791KCNJ11c.56T>C (p.Phe19Ser)
c.23T>C (p.Phe8Ser)
c.284T>C (p.Phe95Ser)
c.301T>C
n.442T>C
11g.17387808A>TCA379774787KCNJ11c.56T>A (p.Phe19Tyr)
c.23T>A (p.Phe8Tyr)
c.284T>A (p.Phe95Tyr)
c.301T>A
n.442T>A
11g.17387809A>CCA379774798KCNJ11c.55T>G (p.Phe19Val)
c.22T>G (p.Phe8Val)
c.283T>G (p.Phe95Val)
c.300T>G
n.441T>G
11g.17387809A>GCA379774801KCNJ11c.55T>C (p.Phe19Leu)
c.22T>C (p.Phe8Leu)
c.283T>C (p.Phe95Leu)
c.300T>C
n.441T>C
11g.17387809A>TCA379774805KCNJ11c.55T>A (p.Phe19Ile)
c.22T>A (p.Phe8Ile)
c.283T>A (p.Phe95Ile)
c.300T>A
n.441T>A
11g.17387810G>ACA473515794KCNJ11c.54C>T (p.Ala18=)
c.21C>T (p.Ala7=)
c.282C>T (p.Ala94=)
c.299C>T
n.440C>T
11g.17387810G>CCA473515795KCNJ11c.54C>G (p.Ala18=)
c.21C>G (p.Ala7=)
c.282C>G (p.Ala94=)
c.299C>G
n.440C>G
11g.17387810G>TCA473515796KCNJ11c.54C>A (p.Ala18=)
c.21C>A (p.Ala7=)
c.282C>A (p.Ala94=)
c.299C>A
n.440C>A
11g.17387811G>ACA379774810KCNJ11c.53C>T (p.Ala18Val)
c.20C>T (p.Ala7Val)
c.281C>T (p.Ala94Val)
c.298C>T
n.439C>T
 gnomAD v4
11g.17387811G>CCA379774814KCNJ11c.53C>G (p.Ala18Gly)
c.20C>G (p.Ala7Gly)
c.281C>G (p.Ala94Gly)
c.298C>G
n.439C>G
11g.17387811G>TCA379774818KCNJ11c.53C>A (p.Ala18Asp)
c.20C>A (p.Ala7Asp)
c.281C>A (p.Ala94Asp)
c.298C>A
n.439C>A
 gnomAD v3 gnomAD v4
11g.17387812C>ACA379774838KCNJ11c.52G>T (p.Ala18Ser)
c.19G>T (p.Ala7Ser)
c.280G>T (p.Ala94Ser)
c.297G>T
n.438G>T
 gnomAD v4
11g.17387812C=CA1955119404KCNJ11c.52G= (p.Ala18=)
c.19G= (p.Ala7=)
c.280G= (p.Ala94=)
c.297G=
n.438G=
11g.17387812C>GCA379774824KCNJ11c.52G>C (p.Ala18Pro)
c.19G>C (p.Ala7Pro)
c.280G>C (p.Ala94Pro)
c.297G>C
n.438G>C
 gnomAD v4
11g.17387812C>TCA5902314KCNJ11c.52G>A (p.Ala18Thr)
c.19G>A (p.Ala7Thr)
c.280G>A (p.Ala94Thr)
c.297G>A
n.438G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387813G>ACA5902315KCNJ11c.51C>T (p.Ile17=)
c.18C>T (p.Ile6=)
c.279C>T (p.Ile93=)
c.296C>T
n.437C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387813G>CCA379774846KCNJ11c.51C>G (p.Ile17Met)
c.18C>G (p.Ile6Met)
c.279C>G (p.Ile93Met)
c.296C>G
n.437C>G
11g.17387813G=CA1955119405KCNJ11c.51C= (p.Ile17=)
c.18C= (p.Ile6=)
c.279C= (p.Ile93=)
c.296C=
n.437C=
11g.17387813G>TCA473515797KCNJ11c.51C>A (p.Ile17=)
c.18C>A (p.Ile6=)
c.279C>A (p.Ile93=)
c.296C>A
n.437C>A
 gnomAD v4
11g.17387813dupCA2574767941KCNJ11c.51dup (p.Ala18ArgfsTer6)
c.18dup (p.Ala7ArgfsTer6)
c.279dup (p.Ala94ArgfsTer6)
c.296dup
n.437dup
 ClinVar
11g.17387815_17387817dupCA2695213250KCNJ11c.49_51dup (p.Ile17_Ala18insIle)
c.16_18dup (p.Ile6_Ala7insIle)
c.277_279dup (p.Ile93_Ala94insIle)
c.294_296dup
n.435_437dup
11g.17387814A>CCA379774850KCNJ11c.50T>G (p.Ile17Ser)
c.17T>G (p.Ile6Ser)
c.278T>G (p.Ile93Ser)
c.295T>G
n.436T>G
11g.17387814A>GCA379774854KCNJ11c.50T>C (p.Ile17Thr)
c.17T>C (p.Ile6Thr)
c.278T>C (p.Ile93Thr)
c.295T>C
n.436T>C
11g.17387814A>TCA379774858KCNJ11c.50T>A (p.Ile17Asn)
c.17T>A (p.Ile6Asn)
c.278T>A (p.Ile93Asn)
c.295T>A
n.436T>A
11g.17387815T>ACA379774873KCNJ11c.49A>T (p.Ile17Phe)
c.16A>T (p.Ile6Phe)
c.277A>T (p.Ile93Phe)
c.294A>T
n.435A>T
11g.17387815T>CCA379774866KCNJ11c.49A>G (p.Ile17Val)
c.16A>G (p.Ile6Val)
c.277A>G (p.Ile93Val)
c.294A>G
n.435A>G
11g.17387815T>GCA379774870KCNJ11c.49A>C (p.Ile17Leu)
c.16A>C (p.Ile6Leu)
c.277A>C (p.Ile93Leu)
c.294A>C
n.435A>C
11g.17387816G>ACA5902316KCNJ11c.48C>T (p.Leu16=)
c.15C>T (p.Leu5=)
c.276C>T (p.Leu92=)
c.293C>T
n.434C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387816G>CCA473515799KCNJ11c.48C>G (p.Leu16=)
c.15C>G (p.Leu5=)
c.276C>G (p.Leu92=)
c.293C>G
n.434C>G
11g.17387816G=CA1955119406KCNJ11c.48C= (p.Leu16=)
c.15C= (p.Leu5=)
c.276C= (p.Leu92=)
c.293C=
n.434C=
11g.17387816G>TCA473515798KCNJ11c.48C>A (p.Leu16=)
c.15C>A (p.Leu5=)
c.276C>A (p.Leu92=)
c.293C>A
n.434C>A
11g.17387817A>CCA379774883KCNJ11c.47T>G (p.Leu16Arg)
c.14T>G (p.Leu5Arg)
c.275T>G (p.Leu92Arg)
c.292T>G
n.433T>G
11g.17387817A>GCA379774897KCNJ11c.47T>C (p.Leu16Pro)
c.14T>C (p.Leu5Pro)
c.275T>C (p.Leu92Pro)
c.292T>C
n.433T>C
11g.17387817A>TCA379774900KCNJ11c.47T>A (p.Leu16His)
c.14T>A (p.Leu5His)
c.275T>A (p.Leu92His)
c.292T>A
n.433T>A
11g.17387818G>ACA379774906KCNJ11c.46C>T (p.Leu16Phe)
c.13C>T (p.Leu5Phe)
c.274C>T (p.Leu92Phe)
c.291C>T
n.432C>T
11g.17387818G>CCA379774911KCNJ11c.46C>G (p.Leu16Val)
c.13C>G (p.Leu5Val)
c.274C>G (p.Leu92Val)
c.291C>G
n.432C>G
11g.17387818G>TCA379774915KCNJ11c.46C>A (p.Leu16Ile)
c.13C>A (p.Leu5Ile)
c.274C>A (p.Leu92Ile)
c.291C>A
n.432C>A
11g.17387819C>ACA379774918KCNJ11c.45G>T (p.Trp15Cys)
c.12G>T (p.Trp4Cys)
c.273G>T (p.Trp91Cys)
c.290G>T
n.431G>T
11g.17387819C>GCA379774920KCNJ11c.45G>C (p.Trp15Cys)
c.12G>C (p.Trp4Cys)
c.273G>C (p.Trp91Cys)
c.290G>C
n.431G>C
11g.17387819C>TCA379774922KCNJ11c.45G>A (p.Trp15Ter)
c.12G>A (p.Trp4Ter)
c.273G>A (p.Trp91Ter)
c.290G>A
n.431G>A
 gnomAD v4
11g.17387820C>ACA379774926KCNJ11c.44G>T (p.Trp15Leu)
c.11G>T (p.Trp4Leu)
c.272G>T (p.Trp91Leu)
c.289G>T
n.430G>T
11g.17387820C>GCA379774928KCNJ11c.44G>C (p.Trp15Ser)
c.11G>C (p.Trp4Ser)
c.272G>C (p.Trp91Ser)
c.289G>C
n.430G>C
11g.17387820C>TCA379774930KCNJ11c.44G>A (p.Trp15Ter)
c.11G>A (p.Trp4Ter)
c.272G>A (p.Trp91Ter)
c.289G>A
n.430G>A
11g.17387821A>CCA379774934KCNJ11c.43T>G (p.Trp15Gly)
c.10T>G (p.Trp4Gly)
c.271T>G (p.Trp91Gly)
c.288T>G
n.429T>G
11g.17387821A>GCA379774937KCNJ11c.43T>C (p.Trp15Arg)
c.10T>C (p.Trp4Arg)
c.271T>C (p.Trp91Arg)
c.288T>C
n.429T>C
 ClinVar
11g.17387821A>TCA379774936KCNJ11c.43T>A (p.Trp15Arg)
c.10T>A (p.Trp4Arg)
c.271T>A (p.Trp91Arg)
c.288T>A
n.429T>A
11g.17387822C>ACA379774938KCNJ11c.42G>T (p.Trp14Cys)
c.9G>T (p.Trp3Cys)
c.270G>T (p.Trp90Cys)
c.287G>T
n.428G>T
11g.17387822C>GCA379774940KCNJ11c.42G>C (p.Trp14Cys)
c.9G>C (p.Trp3Cys)
c.270G>C (p.Trp90Cys)
c.287G>C
n.428G>C
11g.17387822C>TCA379774942KCNJ11c.42G>A (p.Trp14Ter)
c.9G>A (p.Trp3Ter)
c.270G>A (p.Trp90Ter)
c.287G>A
n.428G>A
 ClinVar gnomAD v4
11g.17387823C>ACA379774946KCNJ11c.41G>T (p.Trp14Leu)
c.8G>T (p.Trp3Leu)
c.269G>T (p.Trp90Leu)
c.286G>T
n.427G>T
11g.17387823C=CA1955119407KCNJ11c.41G= (p.Trp14=)
c.8G= (p.Trp3=)
c.269G= (p.Trp90=)
c.286G=
n.427G=
11g.17387823C>GCA379774949KCNJ11c.41G>C (p.Trp14Ser)
c.8G>C (p.Trp3Ser)
c.269G>C (p.Trp90Ser)
c.286G>C
n.427G>C
11g.17387823C>TCA379774952KCNJ11c.41G>A (p.Trp14Ter)
c.8G>A (p.Trp3Ter)
c.269G>A (p.Trp90Ter)
c.286G>A
n.427G>A
 dbSNP gnomAD v2 gnomAD v4
11g.17387824A>CCA379774955KCNJ11c.40T>G (p.Trp14Gly)
c.7T>G (p.Trp3Gly)
c.268T>G (p.Trp90Gly)
c.285T>G
n.426T>G
11g.17387824A>GCA379774958KCNJ11c.40T>C (p.Trp14Arg)
c.7T>C (p.Trp3Arg)
c.268T>C (p.Trp90Arg)
c.285T>C
n.426T>C
 gnomAD v4
11g.17387824A>TCA379774960KCNJ11c.40T>A (p.Trp14Arg)
c.7T>A (p.Trp3Arg)
c.268T>A (p.Trp90Arg)
c.285T>A
n.426T>A
11g.17387825G>ACA473515800KCNJ11c.39C>T (p.Ala13=)
c.6C>T (p.Ala2=)
c.267C>T (p.Ala89=)
c.284C>T
n.425C>T
 gnomAD v4
11g.17387825G>CCA473515801KCNJ11c.39C>G (p.Ala13=)
c.6C>G (p.Ala2=)
c.267C>G (p.Ala89=)
c.284C>G
n.425C>G
11g.17387825G>TCA473515802KCNJ11c.39C>A (p.Ala13=)
c.6C>A (p.Ala2=)
c.267C>A (p.Ala89=)
c.284C>A
n.425C>A
11g.17387826G>ACA379774964KCNJ11c.38C>T (p.Ala13Val)
c.5C>T (p.Ala2Val)
c.266C>T (p.Ala89Val)
c.283C>T
n.424C>T
11g.17387826G>CCA379774967KCNJ11c.38C>G (p.Ala13Gly)
c.5C>G (p.Ala2Gly)
c.266C>G (p.Ala89Gly)
c.283C>G
n.424C>G
11g.17387826G>TCA379774970KCNJ11c.38C>A (p.Ala13Asp)
c.5C>A (p.Ala2Asp)
c.266C>A (p.Ala89Asp)
c.283C>A
n.424C>A
11g.17387827C>ACA379774978KCNJ11c.37G>T (p.Ala13Ser)
c.4G>T (p.Ala2Ser)
c.265G>T (p.Ala89Ser)
c.282G>T
n.423G>T
11g.17387827C>GCA379774973KCNJ11c.37G>C (p.Ala13Pro)
c.4G>C (p.Ala2Pro)
c.265G>C (p.Ala89Pro)
c.282G>C
n.423G>C
11g.17387827C>TCA379774976KCNJ11c.37G>A (p.Ala13Thr)
c.4G>A (p.Ala2Thr)
c.265G>A (p.Ala89Thr)
c.282G>A
n.423G>A
11g.17387828C>ACA379774980KCNJ11c.36G>T (p.Met12Ile)
c.3G>T (p.Met1Ile)
c.264G>T (p.Met88Ile)
c.281G>T
n.422G>T
 ClinVar dbSNP gnomAD v4
11g.17387828C=CA1955119408KCNJ11c.36G= (p.Met12=)
c.3G= (p.Met1=)
c.264G= (p.Met88=)
c.281G=
n.422G=
11g.17387828C>GCA379774982KCNJ11c.36G>C (p.Met12Ile)
c.3G>C (p.Met1Ile)
c.264G>C (p.Met88Ile)
c.281G>C
n.422G>C
11g.17387828C>TCA379774985KCNJ11c.36G>A (p.Met12Ile)
c.3G>A (p.Met1Ile)
c.264G>A (p.Met88Ile)
c.281G>A
n.422G>A
11g.17387829A>CCA379774989KCNJ11c.35T>G (p.Met12Arg)
c.2T>G (p.Met1Arg)
c.263T>G (p.Met88Arg)
c.280T>G
n.421T>G
11g.17387829A>GCA379774991KCNJ11c.35T>C (p.Met12Thr)
c.2T>C (p.Met1Thr)
c.263T>C (p.Met88Thr)
c.280T>C
n.421T>C
11g.17387829A>TCA379774993KCNJ11c.35T>A (p.Met12Lys)
c.2T>A (p.Met1Lys)
c.263T>A (p.Met88Lys)
c.280T>A
n.421T>A
11g.17387830T>ACA5902317KCNJ11c.34A>T (p.Met12Leu)
c.1A>T (p.Met1Leu)
c.262A>T (p.Met88Leu)
c.279A>T
n.420A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387830T>CCA379775003KCNJ11c.34A>G (p.Met12Val)
c.1A>G (p.Met1Val)
c.262A>G (p.Met88Val)
c.279A>G
n.420A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.17387830T>GCA379775008KCNJ11c.34A>C (p.Met12Leu)
c.1A>C (p.Met1Leu)
c.262A>C (p.Met88Leu)
c.279A>C
n.420A>C
11g.17387830T=CA1955119409KCNJ11c.34A= (p.Met12=)
c.1A= (p.Met1=)
c.262A= (p.Met88=)
c.279A=
n.420A=
11g.17387831G>ACA473515803KCNJ11c.33C>T (p.Ala11=)
c.-1C>T (n.-1C>T)
c.261C>T (p.Ala87=)
c.278C>T
n.419C>T
11g.17387831G>CCA473515804KCNJ11c.33C>G (p.Ala11=)
c.-1C>G (n.-1C>G)
c.261C>G (p.Ala87=)
c.278C>G
n.419C>G
11g.17387831G>TCA473515805KCNJ11c.33C>A (p.Ala11=)
c.-1C>A (n.-1C>A)
c.261C>A (p.Ala87=)
c.278C>A
n.419C>A
11g.17387832G>ACA379775012KCNJ11c.32C>T (p.Ala11Val)
c.-2C>T (n.-2C>T)
c.260C>T (p.Ala87Val)
c.277C>T
n.418C>T
 gnomAD v4
11g.17387832G>CCA379775015KCNJ11c.32C>G (p.Ala11Gly)
c.-2C>G (n.-2C>G)
c.260C>G (p.Ala87Gly)
c.277C>G
n.418C>G
11g.17387832G>TCA379775018KCNJ11c.32C>A (p.Ala11Asp)
c.-2C>A (n.-2C>A)
c.260C>A (p.Ala87Asp)
c.277C>A
n.418C>A
11g.17387833C>ACA379775025KCNJ11c.31G>T (p.Ala11Ser)
c.-3G>T (n.-3G>T)
c.259G>T (p.Ala87Ser)
c.276G>T
n.417G>T
11g.17387833C=CA1955119410KCNJ11c.31G= (p.Ala11=)
c.-3G= (n.-3G=)
c.259G= (p.Ala87=)
c.276G=
n.417G=
11g.17387833C>GCA379775027KCNJ11c.31G>C (p.Ala11Pro)
c.-3G>C (n.-3G>C)
c.259G>C (p.Ala87Pro)
c.276G>C
n.417G>C
 dbSNP
11g.17387833C>TCA5902318KCNJ11c.31G>A (p.Ala11Thr)
c.-3G>A (n.-3G>A)
c.259G>A (p.Ala87Thr)
c.276G>A
n.417G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387834G>ACA5902319KCNJ11c.30C>T (p.Phe10=)
c.-4C>T (n.-4C>T)
c.258C>T (p.Phe86=)
c.275C>T
n.416C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387834G>CCA379775032KCNJ11c.30C>G (p.Phe10Leu)
c.-4C>G (n.-4C>G)
c.258C>G (p.Phe86Leu)
c.275C>G
n.416C>G
11g.17387834G=CA1955119411KCNJ11c.30C= (p.Phe10=)
c.-4C= (n.-4C=)
c.258C= (p.Phe86=)
c.275C=
n.416C=
11g.17387834G>TCA379775035KCNJ11c.30C>A (p.Phe10Leu)
c.-4C>A (n.-4C>A)
c.258C>A (p.Phe86Leu)
c.275C>A
n.416C>A
11g.17387835A>CCA379775040KCNJ11c.29T>G (p.Phe10Cys)
c.-5T>G (n.-5T>G)
c.257T>G (p.Phe86Cys)
c.274T>G
n.415T>G
11g.17387835A>GCA379775043KCNJ11c.29T>C (p.Phe10Ser)
c.-5T>C (n.-5T>C)
c.257T>C (p.Phe86Ser)
c.274T>C
n.415T>C
11g.17387835A>TCA379775047KCNJ11c.29T>A (p.Phe10Tyr)
c.-5T>A (n.-5T>A)
c.257T>A (p.Phe86Tyr)
c.274T>A
n.415T>A
11g.17387836A=CA1955119412KCNJ11c.28T= (p.Phe10=)
c.-6T= (n.-6T=)
c.256T= (p.Phe86=)
c.273T=
n.414T=
11g.17387836A>CCA379775060KCNJ11c.28T>G (p.Phe10Val)
c.-6T>G (n.-6T>G)
c.256T>G (p.Phe86Val)
c.273T>G
n.414T>G
11g.17387836A>GCA379775058KCNJ11c.28T>C (p.Phe10Leu)
c.-6T>C (n.-6T>C)
c.256T>C (p.Phe86Leu)
c.273T>C
n.414T>C
 dbSNP gnomAD v4
11g.17387836A>TCA379775050KCNJ11c.28T>A (p.Phe10Ile)
c.-6T>A (n.-6T>A)
c.256T>A (p.Phe86Ile)
c.273T>A
n.414T>A
11g.17387837G>ACA473515806KCNJ11c.27C>T (p.Leu9=)
c.-7C>T (n.-7C>T)
c.255C>T (p.Leu85=)
c.272C>T
n.413C>T
11g.17387837G>CCA473515808KCNJ11c.27C>G (p.Leu9=)
c.-7C>G (n.-7C>G)
c.255C>G (p.Leu85=)
c.272C>G
n.413C>G
11g.17387837G>TCA473515807KCNJ11c.27C>A (p.Leu9=)
c.-7C>A (n.-7C>A)
c.255C>A (p.Leu85=)
c.272C>A
n.413C>A
11g.17387838A=CA1955119413KCNJ11c.26T= (p.Leu9=)
c.-8T= (n.-8T=)
c.254T= (p.Leu85=)
c.271T=
n.412T=
11g.17387838A>CCA379775061KCNJ11c.26T>G (p.Leu9Arg)
c.-8T>G (n.-8T>G)
c.254T>G (p.Leu85Arg)
c.271T>G
n.412T>G
11g.17387838A>GCA379775064KCNJ11c.26T>C (p.Leu9Pro)
c.-8T>C (n.-8T>C)
c.254T>C (p.Leu85Pro)
c.271T>C
n.412T>C
11g.17387838A>TCA379775066KCNJ11c.26T>A (p.Leu9His)
c.-8T>A (n.-8T>A)
c.254T>A (p.Leu85His)
c.271T>A
n.412T>A
 dbSNP gnomAD v2 gnomAD v4
11g.17387839G>ACA379775067KCNJ11c.25C>T (p.Leu9Phe)
c.-9C>T (n.-9C>T)
c.253C>T (p.Leu85Phe)
c.270C>T
n.411C>T
11g.17387839G>CCA379775069KCNJ11c.25C>G (p.Leu9Val)
c.-9C>G (n.-9C>G)
c.253C>G (p.Leu85Val)
c.270C>G
n.411C>G
11g.17387839G>TCA379775072KCNJ11c.25C>A (p.Leu9Ile)
c.-9C>A (n.-9C>A)
c.253C>A (p.Leu85Ile)
c.270C>A
n.411C>A
11g.17387840C>ACA473515809KCNJ11c.24G>T (p.Leu8=)
c.-10G>T (n.-10G>T)
c.252G>T (p.Leu84=)
c.269G>T
n.410G>T
11g.17387840C>GCA473515810KCNJ11c.24G>C (p.Leu8=)
c.-10G>C (n.-10G>C)
c.252G>C (p.Leu84=)
c.269G>C
n.410G>C
11g.17387840C>TCA473515811KCNJ11c.24G>A (p.Leu8=)
c.-10G>A (n.-10G>A)
c.252G>A (p.Leu84=)
c.269G>A
n.410G>A
 ClinVar dbSNP
11g.17387841A>CCA379775077KCNJ11c.23T>G (p.Leu8Arg)
c.-11T>G (n.-11T>G)
c.251T>G (p.Leu84Arg)
c.268T>G
n.409T>G
11g.17387841A>GCA379775082KCNJ11c.23T>C (p.Leu8Pro)
c.-11T>C (n.-11T>C)
c.251T>C (p.Leu84Pro)
c.268T>C
n.409T>C
11g.17387841A>TCA379775079KCNJ11c.23T>A (p.Leu8Gln)
c.-11T>A (n.-11T>A)
c.251T>A (p.Leu84Gln)
c.268T>A
n.409T>A
11g.17387842G>ACA5902320KCNJ11c.22C>T (p.Leu8=)
c.-12C>T (n.-12C>T)
c.250C>T (p.Leu84=)
c.267C>T
n.408C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387842G>CCA379775088KCNJ11c.22C>G (p.Leu8Val)
c.-12C>G (n.-12C>G)
c.250C>G (p.Leu84Val)
c.267C>G
n.408C>G
11g.17387842G=CA1955119414KCNJ11c.22C= (p.Leu8=)
c.-12C= (n.-12C=)
c.250C= (p.Leu84=)
c.267C=
n.408C=
11g.17387842G>TCA379775093KCNJ11c.22C>A (p.Leu8Met)
c.-12C>A (n.-12C>A)
c.250C>A (p.Leu84Met)
c.267C>A
n.408C>A
11g.17387843C>ACA379775096KCNJ11c.21G>T (p.Trp7Cys)
c.-13G>T (n.-13G>T)
c.249G>T (p.Trp83Cys)
c.266G>T
n.407G>T
11g.17387843C>GCA379775099KCNJ11c.21G>C (p.Trp7Cys)
c.-13G>C (n.-13G>C)
c.249G>C (p.Trp83Cys)
c.266G>C
n.407G>C
11g.17387843C>TCA379775101KCNJ11c.21G>A (p.Trp7Ter)
c.-13G>A (n.-13G>A)
c.249G>A (p.Trp83Ter)
c.266G>A
n.407G>A
11g.17387844C>ACA379775104KCNJ11c.20G>T (p.Trp7Leu)
c.-14G>T (n.-14G>T)
c.248G>T (p.Trp83Leu)
c.265G>T
n.406G>T
11g.17387844C>GCA379775108KCNJ11c.20G>C (p.Trp7Ser)
c.-14G>C (n.-14G>C)
c.248G>C (p.Trp83Ser)
c.265G>C
n.406G>C
 ClinVar dbSNP gnomAD v4
11g.17387844C>TCA379775116KCNJ11c.20G>A (p.Trp7Ter)
c.-14G>A (n.-14G>A)
c.248G>A (p.Trp83Ter)
c.265G>A
n.406G>A
11g.17387845A>CCA379775120KCNJ11c.19T>G (p.Trp7Gly)
c.-15T>G (n.-15T>G)
c.247T>G (p.Trp83Gly)
c.264T>G
n.405T>G
11g.17387845A>GCA379775127KCNJ11c.19T>C (p.Trp7Arg)
c.-15T>C (n.-15T>C)
c.247T>C (p.Trp83Arg)
c.264T>C
n.405T>C
11g.17387845A>TCA379775130KCNJ11c.19T>A (p.Trp7Arg)
c.-15T>A (n.-15T>A)
c.247T>A (p.Trp83Arg)
c.264T>A
n.405T>A
11g.17387845_17387848dupCA2695213252KCNJ11c.16_19dup (p.Trp7Ter)
c.-16-2_-15dup
c.244_247dup (p.Trp83Ter)
c.261_264dup
n.402_405dup
11g.17387846G>ACA473515815KCNJ11c.18C>T (p.Ser6=)
c.-16C>T (n.-16C>T)
c.246C>T (p.Ser82=)
c.263C>T
n.404C>T
11g.17387846G>CCA379775142KCNJ11c.18C>G (p.Ser6Arg)
c.-16C>G (n.-16C>G)
c.246C>G (p.Ser82Arg)
c.263C>G
n.404C>G
 gnomAD v4
11g.17387846G>TCA379775135KCNJ11c.18C>A (p.Ser6Arg)
c.-16C>A (n.-16C>A)
c.246C>A (p.Ser82Arg)
c.263C>A
n.404C>A
11g.17387847C>ACA379775146KCNJ11c.17G>T (p.Ser6Ile)
c.-16-1G>T (n.-16-1G>T)
c.245G>T (p.Ser82Ile)
c.262G>T
n.403G>T
11g.17387847C=CA1955119415KCNJ11c.17G= (p.Ser6=)
c.-16-1G= (n.-16-1G=)
c.245G= (p.Ser82=)
c.262G=
n.403G=
11g.17387847C>GCA379775147KCNJ11c.17G>C (p.Ser6Thr)
c.-16-1G>C (n.-16-1G>C)
c.245G>C (p.Ser82Thr)
c.262G>C
n.403G>C
11g.17387847C>TCA379775148KCNJ11c.17G>A (p.Ser6Asn)
c.-16-1G>A (n.-16-1G>A)
c.245G>A (p.Ser82Asn)
c.262G>A
n.403G>A
 ClinVar dbSNP
11g.17387848T>ACA379775150KCNJ11c.16A>T (p.Ser6Cys)
c.-16-2A>T (n.-16-2A>T)
c.244A>T (p.Ser82Cys)
c.261A>T
n.402A>T
11g.17387848T>CCA379775152KCNJ11c.16A>G (p.Ser6Gly)
c.-16-2A>G (n.-16-2A>G)
c.244A>G (p.Ser82Gly)
c.261A>G
n.402A>G
11g.17387848T>GCA379775155KCNJ11c.16A>C (p.Ser6Arg)
c.-16-2A>C (n.-16-2A>C)
c.244A>C (p.Ser82Arg)
c.261A>C
n.402A>C
11g.17387849G>ACA473515819KCNJ11c.15C>T (p.Cys5=)
c.-16-3C>T (n.-16-3C>T)
c.243C>T (p.Cys81=)
c.260C>T
n.401C>T
 COSMIC
11g.17387849G>CCA379775162KCNJ11c.15C>G (p.Cys5Trp)
c.-16-3C>G (n.-16-3C>G)
c.243C>G (p.Cys81Trp)
c.260C>G
n.401C>G
11g.17387849G>TCA379775160KCNJ11c.15C>A (p.Cys5Ter)
c.-16-3C>A (n.-16-3C>A)
c.243C>A (p.Cys81Ter)
c.260C>A
n.401C>A

Number of alleles fetched