Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.17387700_17387702dupCA2695213244KCNJ11c.163_165dup (p.Ile55_Gly56insIle)
c.130_132dup (p.Ile44_Gly45insIle)
c.391_393dup (p.Ile131_Gly132insIle)
c.408_410dup
n.549_551dup
11g.17387699_17387702dupCA2612639102KCNJ11c.162_165dup (p.Gly56TyrfsTer10)
c.129_132dup (p.Gly45TyrfsTer10)
c.390_393dup (p.Gly132TyrfsTer10)
c.407_410dup
n.548_551dup
 gnomAD v4
11g.17387701T>ACA379774040KCNJ11c.163A>T (p.Ile55Phe)
c.130A>T (p.Ile44Phe)
c.391A>T (p.Ile131Phe)
c.408A>T
n.549A>T
11g.17387701T>CCA379774038KCNJ11c.163A>G (p.Ile55Val)
c.130A>G (p.Ile44Val)
c.391A>G (p.Ile131Val)
c.408A>G
n.549A>G
11g.17387701T>GCA379774036KCNJ11c.163A>C (p.Ile55Leu)
c.130A>C (p.Ile44Leu)
c.391A>C (p.Ile131Leu)
c.408A>C
n.549A>C
11g.17387702A>CCA473515592KCNJ11c.162T>G (p.Thr54=)
c.129T>G (p.Thr43=)
c.390T>G (p.Thr130=)
c.407T>G
n.548T>G
11g.17387702A>GCA473515595KCNJ11c.162T>C (p.Thr54=)
c.129T>C (p.Thr43=)
c.390T>C (p.Thr130=)
c.407T>C
n.548T>C
11g.17387702A>TCA473515593KCNJ11c.162T>A (p.Thr54=)
c.129T>A (p.Thr43=)
c.390T>A (p.Thr130=)
c.407T>A
n.548T>A
11g.17387703G>ACA379774042KCNJ11c.161C>T (p.Thr54Ile)
c.128C>T (p.Thr43Ile)
c.389C>T (p.Thr130Ile)
c.406C>T
n.547C>T
 gnomAD v4
11g.17387703G>CCA379774045KCNJ11c.161C>G (p.Thr54Ser)
c.128C>G (p.Thr43Ser)
c.389C>G (p.Thr130Ser)
c.406C>G
n.547C>G
11g.17387703G>TCA379774044KCNJ11c.161C>A (p.Thr54Asn)
c.128C>A (p.Thr43Asn)
c.389C>A (p.Thr130Asn)
c.406C>A
n.547C>A
11g.17387704T>ACA379774051KCNJ11c.160A>T (p.Thr54Ser)
c.127A>T (p.Thr43Ser)
c.388A>T (p.Thr130Ser)
c.405A>T
n.546A>T
11g.17387704T>CCA379774052KCNJ11c.160A>G (p.Thr54Ala)
c.127A>G (p.Thr43Ala)
c.388A>G (p.Thr130Ala)
c.405A>G
n.546A>G
 gnomAD v4
11g.17387704T>GCA379774053KCNJ11c.160A>C (p.Thr54Pro)
c.127A>C (p.Thr43Pro)
c.388A>C (p.Thr130Pro)
c.405A>C
n.546A>C
11g.17387705C>ACA473515597KCNJ11c.159G>T (p.Val53=)
c.126G>T (p.Val42=)
c.387G>T (p.Val129=)
c.404G>T
n.545G>T
 dbSNP
11g.17387705C=CA1955119360KCNJ11c.159G= (p.Val53=)
c.126G= (p.Val42=)
c.387G= (p.Val129=)
c.404G=
n.545G=
11g.17387705C>GCA473515599KCNJ11c.159G>C (p.Val53=)
c.126G>C (p.Val42=)
c.387G>C (p.Val129=)
c.404G>C
n.545G>C
11g.17387705C>TCA473515600KCNJ11c.159G>A (p.Val53=)
c.126G>A (p.Val42=)
c.387G>A (p.Val129=)
c.404G>A
n.545G>A
11g.17387706A>CCA379774055KCNJ11c.158T>G (p.Val53Gly)
c.125T>G (p.Val42Gly)
c.386T>G (p.Val129Gly)
c.403T>G
n.544T>G
11g.17387706A>GCA379774056KCNJ11c.158T>C (p.Val53Ala)
c.125T>C (p.Val42Ala)
c.386T>C (p.Val129Ala)
c.403T>C
n.544T>C
11g.17387706A>TCA379774057KCNJ11c.158T>A (p.Val53Glu)
c.125T>A (p.Val42Glu)
c.386T>A (p.Val129Glu)
c.403T>A
n.544T>A
11g.17387707C>ACA379774060KCNJ11c.157G>T (p.Val53Leu)
c.124G>T (p.Val42Leu)
c.385G>T (p.Val129Leu)
c.402G>T
n.543G>T
11g.17387707C>GCA379774061KCNJ11c.157G>C (p.Val53Leu)
c.124G>C (p.Val42Leu)
c.385G>C (p.Val129Leu)
c.402G>C
n.543G>C
11g.17387707C>TCA379774063KCNJ11c.157G>A (p.Val53Met)
c.124G>A (p.Val42Met)
c.385G>A (p.Val129Met)
c.402G>A
n.543G>A
11g.17387708T>ACA379774066KCNJ11c.156A>T (p.Gln52His)
c.123A>T (p.Gln41His)
c.384A>T (p.Gln128His)
c.401A>T
n.542A>T
11g.17387708T>CCA473515603KCNJ11c.156A>G (p.Gln52=)
c.123A>G (p.Gln41=)
c.384A>G (p.Gln128=)
c.401A>G
n.542A>G
11g.17387708T>GCA379774067KCNJ11c.156A>C (p.Gln52His)
c.123A>C (p.Gln41His)
c.384A>C (p.Gln128His)
c.401A>C
n.542A>C
11g.17387709T>ACA379774073KCNJ11c.155A>T (p.Gln52Leu)
c.122A>T (p.Gln41Leu)
c.383A>T (p.Gln128Leu)
c.400A>T
n.541A>T
11g.17387709T>CCA379774072KCNJ11c.155A>G (p.Gln52Arg)
c.122A>G (p.Gln41Arg)
c.383A>G (p.Gln128Arg)
c.400A>G
n.541A>G
11g.17387709T>GCA379774070KCNJ11c.155A>C (p.Gln52Pro)
c.122A>C (p.Gln41Pro)
c.383A>C (p.Gln128Pro)
c.400A>C
n.541A>C
11g.17387710G>ACA379774075KCNJ11c.154C>T (p.Gln52Ter)
c.121C>T (p.Gln41Ter)
c.382C>T (p.Gln128Ter)
c.399C>T
n.540C>T
11g.17387710G>CCA379774077KCNJ11c.154C>G (p.Gln52Glu)
c.121C>G (p.Gln41Glu)
c.382C>G (p.Gln128Glu)
c.399C>G
n.540C>G
 gnomAD v4
11g.17387710G>TCA379774078KCNJ11c.154C>A (p.Gln52Lys)
c.121C>A (p.Gln41Lys)
c.382C>A (p.Gln128Lys)
c.399C>A
n.540C>A
11g.17387711G>ACA473515604KCNJ11c.153C>T (p.Val51=)
c.120C>T (p.Val40=)
c.381C>T (p.Val127=)
c.398C>T
n.539C>T
11g.17387711G>CCA473515606KCNJ11c.153C>G (p.Val51=)
c.120C>G (p.Val40=)
c.381C>G (p.Val127=)
c.398C>G
n.539C>G
11g.17387711G>TCA473515607KCNJ11c.153C>A (p.Val51=)
c.120C>A (p.Val40=)
c.381C>A (p.Val127=)
c.398C>A
n.539C>A
11g.17387712A>CCA379774081KCNJ11c.152T>G (p.Val51Gly)
c.119T>G (p.Val40Gly)
c.380T>G (p.Val127Gly)
c.397T>G
n.538T>G
11g.17387712A>GCA379774083KCNJ11c.152T>C (p.Val51Ala)
c.119T>C (p.Val40Ala)
c.380T>C (p.Val127Ala)
c.397T>C
n.538T>C
11g.17387712A>TCA379774084KCNJ11c.152T>A (p.Val51Asp)
c.119T>A (p.Val40Asp)
c.380T>A (p.Val127Asp)
c.397T>A
n.538T>A
11g.17387713C>ACA379774087KCNJ11c.151G>T (p.Val51Phe)
c.118G>T (p.Val40Phe)
c.379G>T (p.Val127Phe)
c.396G>T
n.537G>T
 gnomAD v4
11g.17387713C=CA1955119361KCNJ11c.151G= (p.Val51=)
c.118G= (p.Val40=)
c.379G= (p.Val127=)
c.396G=
n.537G=
11g.17387713C>GCA379774089KCNJ11c.151G>C (p.Val51Leu)
c.118G>C (p.Val40Leu)
c.379G>C (p.Val127Leu)
c.396G>C
n.537G>C
11g.17387713C>TCA379774091KCNJ11c.151G>A (p.Val51Ile)
c.118G>A (p.Val40Ile)
c.379G>A (p.Val127Ile)
c.396G>A
n.537G>A
 dbSNP gnomAD v2 gnomAD v4
11g.17387714C>ACA379774094KCNJ11c.150G>T (p.Glu50Asp)
c.117G>T (p.Glu39Asp)
c.378G>T (p.Glu126Asp)
c.395G>T
n.536G>T
 gnomAD v4
11g.17387714C=CA1955119362KCNJ11c.150G= (p.Glu50=)
c.117G= (p.Glu39=)
c.378G= (p.Glu126=)
c.395G=
n.536G=
11g.17387714C>GCA379774096KCNJ11c.150G>C (p.Glu50Asp)
c.117G>C (p.Glu39Asp)
c.378G>C (p.Glu126Asp)
c.395G>C
n.536G>C
11g.17387714C>TCA473515609KCNJ11c.150G>A (p.Glu50=)
c.117G>A (p.Glu39=)
c.378G>A (p.Glu126=)
c.395G>A
n.536G>A
 dbSNP gnomAD v4
11g.17387715T>ACA379774101KCNJ11c.149A>T (p.Glu50Val)
c.116A>T (p.Glu39Val)
c.377A>T (p.Glu126Val)
c.394A>T
n.535A>T
11g.17387715T>CCA379774100KCNJ11c.149A>G (p.Glu50Gly)
c.116A>G (p.Glu39Gly)
c.377A>G (p.Glu126Gly)
c.394A>G
n.535A>G
11g.17387715T>GCA379774099KCNJ11c.149A>C (p.Glu50Ala)
c.116A>C (p.Glu39Ala)
c.377A>C (p.Glu126Ala)
c.394A>C
n.535A>C
11g.17387716C>ACA379774103KCNJ11c.148G>T (p.Glu50Ter)
c.115G>T (p.Glu39Ter)
c.376G>T (p.Glu126Ter)
c.393G>T
n.534G>T
11g.17387716C>GCA379774105KCNJ11c.148G>C (p.Glu50Gln)
c.115G>C (p.Glu39Gln)
c.376G>C (p.Glu126Gln)
c.393G>C
n.534G>C
11g.17387716C>TCA379774106KCNJ11c.148G>A (p.Glu50Lys)
c.115G>A (p.Glu39Lys)
c.376G>A (p.Glu126Lys)
c.393G>A
n.534G>A
11g.17387717A>CCA379774109KCNJ11c.147T>G (p.Ile49Met)
c.114T>G (p.Ile38Met)
c.375T>G (p.Ile125Met)
c.392T>G
n.533T>G
 gnomAD v4
11g.17387717A>GCA473515613KCNJ11c.147T>C (p.Ile49=)
c.114T>C (p.Ile38=)
c.375T>C (p.Ile125=)
c.392T>C
n.533T>C
11g.17387717A>TCA473515614KCNJ11c.147T>A (p.Ile49=)
c.114T>A (p.Ile38=)
c.375T>A (p.Ile125=)
c.392T>A
n.533T>A
11g.17387718A>CCA379774111KCNJ11c.146T>G (p.Ile49Ser)
c.113T>G (p.Ile38Ser)
c.374T>G (p.Ile125Ser)
c.391T>G
n.532T>G
11g.17387718A>GCA379774113KCNJ11c.146T>C (p.Ile49Thr)
c.113T>C (p.Ile38Thr)
c.374T>C (p.Ile125Thr)
c.391T>C
n.532T>C
 gnomAD v4
11g.17387718A>TCA379774115KCNJ11c.146T>A (p.Ile49Asn)
c.113T>A (p.Ile38Asn)
c.374T>A (p.Ile125Asn)
c.391T>A
n.532T>A
11g.17387719T>ACA379774117KCNJ11c.145A>T (p.Ile49Phe)
c.112A>T (p.Ile38Phe)
c.373A>T (p.Ile125Phe)
c.390A>T
n.531A>T
11g.17387719T>CCA379774119KCNJ11c.145A>G (p.Ile49Val)
c.112A>G (p.Ile38Val)
c.373A>G (p.Ile125Val)
c.390A>G
n.531A>G
11g.17387719T>GCA379774121KCNJ11c.145A>C (p.Ile49Leu)
c.112A>C (p.Ile38Leu)
c.373A>C (p.Ile125Leu)
c.390A>C
n.531A>C
 dbSNP gnomAD v2 gnomAD v4
11g.17387719T=CA1955119363KCNJ11c.145A= (p.Ile49=)
c.112A= (p.Ile38=)
c.373A= (p.Ile125=)
c.390A=
n.531A=
11g.17387720G>ACA473515618KCNJ11c.144C>T (p.Ser48=)
c.111C>T (p.Ser37=)
c.372C>T (p.Ser124=)
c.389C>T
n.530C>T
11g.17387720G>CCA473515619KCNJ11c.144C>G (p.Ser48=)
c.111C>G (p.Ser37=)
c.372C>G (p.Ser124=)
c.389C>G
n.530C>G
11g.17387720G>TCA473515620KCNJ11c.144C>A (p.Ser48=)
c.111C>A (p.Ser37=)
c.372C>A (p.Ser124=)
c.389C>A
n.530C>A
11g.17387721G>ACA379774123KCNJ11c.143C>T (p.Ser48Phe)
c.110C>T (p.Ser37Phe)
c.371C>T (p.Ser124Phe)
c.388C>T
n.529C>T
11g.17387721G>CCA379774125KCNJ11c.143C>G (p.Ser48Cys)
c.110C>G (p.Ser37Cys)
c.371C>G (p.Ser124Cys)
c.388C>G
n.529C>G
11g.17387721G>TCA379774127KCNJ11c.143C>A (p.Ser48Tyr)
c.110C>A (p.Ser37Tyr)
c.371C>A (p.Ser124Tyr)
c.388C>A
n.529C>A
11g.17387722A>CCA379774132KCNJ11c.142T>G (p.Ser48Ala)
c.109T>G (p.Ser37Ala)
c.370T>G (p.Ser124Ala)
c.387T>G
n.528T>G
11g.17387722A>GCA379774129KCNJ11c.142T>C (p.Ser48Pro)
c.109T>C (p.Ser37Pro)
c.370T>C (p.Ser124Pro)
c.387T>C
n.528T>C
11g.17387722A>TCA379774131KCNJ11c.142T>A (p.Ser48Thr)
c.109T>A (p.Ser37Thr)
c.370T>A (p.Ser124Thr)
c.387T>A
n.528T>A
11g.17387723G>ACA473515624KCNJ11c.141C>T (p.Phe47=)
c.108C>T (p.Phe36=)
c.369C>T (p.Phe123=)
c.386C>T
n.527C>T
11g.17387723G>CCA379774134KCNJ11c.141C>G (p.Phe47Leu)
c.108C>G (p.Phe36Leu)
c.369C>G (p.Phe123Leu)
c.386C>G
n.527C>G
11g.17387723G=CA1955119364KCNJ11c.141C= (p.Phe47=)
c.108C= (p.Phe36=)
c.369C= (p.Phe123=)
c.386C=
n.527C=
11g.17387723G>TCA379774135KCNJ11c.141C>A (p.Phe47Leu)
c.108C>A (p.Phe36Leu)
c.369C>A (p.Phe123Leu)
c.386C>A
n.527C>A
11g.17387724A>CCA379774137KCNJ11c.140T>G (p.Phe47Cys)
c.107T>G (p.Phe36Cys)
c.368T>G (p.Phe123Cys)
c.385T>G
n.526T>G
11g.17387724A>GCA379774139KCNJ11c.140T>C (p.Phe47Ser)
c.107T>C (p.Phe36Ser)
c.368T>C (p.Phe123Ser)
c.385T>C
n.526T>C
11g.17387724A>TCA379774141KCNJ11c.140T>A (p.Phe47Tyr)
c.107T>A (p.Phe36Tyr)
c.368T>A (p.Phe123Tyr)
c.385T>A
n.526T>A
11g.17387727dupCA658797595KCNJ11c.140dup (p.Ser48LeufsTer3)
c.107dup (p.Ser37LeufsTer3)
c.368dup (p.Ser124LeufsTer3)
c.385dup
n.526dup
 ClinVar dbSNP gnomAD v4
11g.17387725A=CA1955119365KCNJ11c.139T= (p.Phe47=)
c.106T= (p.Phe36=)
c.367T= (p.Phe123=)
c.384T=
n.525T=
11g.17387725A>CCA379774143KCNJ11c.139T>G (p.Phe47Val)
c.106T>G (p.Phe36Val)
c.367T>G (p.Phe123Val)
c.384T>G
n.525T>G
11g.17387725A>GCA379774145KCNJ11c.139T>C (p.Phe47Leu)
c.106T>C (p.Phe36Leu)
c.367T>C (p.Phe123Leu)
c.384T>C
n.525T>C
 dbSNP gnomAD v2 gnomAD v4
11g.17387725A>TCA379774147KCNJ11c.139T>A (p.Phe47Ile)
c.106T>A (p.Phe36Ile)
c.367T>A (p.Phe123Ile)
c.384T>A
n.525T>A
11g.17387725_17387729delinsAAAGGCA1955119366KCNJ11c.135_139delinsCCTTT (p.Phe45=)
c.102_106delinsCCTTT (p.Phe34=)
c.363_367delinsCCTTT (p.Phe121=)
c.380_384delinsCCTTT
n.521_525delinsCCTTT
11g.17387727_17387731delCA912971884KCNJ11c.135_139del (p.Phe47HisfsTer2)
c.102_106del (p.Phe36HisfsTer2)
c.363_367del (p.Phe123HisfsTer2)
c.380_384del
n.521_525del
11g.17387726_17387751delCA2695213246KCNJ11c.114_139del (p.His39LeufsTer3)
c.81_106del (p.His28LeufsTer3)
c.342_367del (p.His115LeufsTer3)
c.359_384del
n.500_525del
11g.17387726A>CCA473515627KCNJ11c.138T>G (p.Leu46=)
c.105T>G (p.Leu35=)
c.366T>G (p.Leu122=)
c.383T>G
n.524T>G
11g.17387726A>GCA473515628KCNJ11c.138T>C (p.Leu46=)
c.105T>C (p.Leu35=)
c.366T>C (p.Leu122=)
c.383T>C
n.524T>C
 gnomAD v4
11g.17387726A>TCA473515629KCNJ11c.138T>A (p.Leu46=)
c.105T>A (p.Leu35=)
c.366T>A (p.Leu122=)
c.383T>A
n.524T>A
11g.17387730_17387733delCA658822455KCNJ11c.135_138del (p.Leu46SerfsTer7)
c.102_105del (p.Leu35SerfsTer7)
c.363_366del (p.Leu122SerfsTer7)
c.380_383del
n.521_524del
 ClinVar dbSNP
11g.17387727A=CA1955119367KCNJ11c.137T= (p.Leu46=)
c.104T= (p.Leu35=)
c.365T= (p.Leu122=)
c.382T=
n.523T=
11g.17387727A>CCA379774148KCNJ11c.137T>G (p.Leu46Arg)
c.104T>G (p.Leu35Arg)
c.365T>G (p.Leu122Arg)
c.382T>G
n.523T>G
 COSMIC
11g.17387727A>GCA379774149KCNJ11c.137T>C (p.Leu46Pro)
c.104T>C (p.Leu35Pro)
c.365T>C (p.Leu122Pro)
c.382T>C
n.523T>C
 ClinVar dbSNP
11g.17387727A>TCA379774151KCNJ11c.137T>A (p.Leu46His)
c.104T>A (p.Leu35His)
c.365T>A (p.Leu122His)
c.382T>A
n.523T>A
11g.17387728G>ACA379774157KCNJ11c.136C>T (p.Leu46Phe)
c.103C>T (p.Leu35Phe)
c.364C>T (p.Leu122Phe)
c.381C>T
n.522C>T
 gnomAD v4 COSMIC
11g.17387728G>CCA379774155KCNJ11c.136C>G (p.Leu46Val)
c.103C>G (p.Leu35Val)
c.364C>G (p.Leu122Val)
c.381C>G
n.522C>G
11g.17387728G>TCA379774153KCNJ11c.136C>A (p.Leu46Ile)
c.103C>A (p.Leu35Ile)
c.364C>A (p.Leu122Ile)
c.381C>A
n.522C>A
11g.17387729G>ACA473515631KCNJ11c.135C>T (p.Phe45=)
c.102C>T (p.Phe34=)
c.363C>T (p.Phe121=)
c.380C>T
n.521C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.17387729G>CCA379774158KCNJ11c.135C>G (p.Phe45Leu)
c.102C>G (p.Phe34Leu)
c.363C>G (p.Phe121Leu)
c.380C>G
n.521C>G
11g.17387729G=CA1955119368KCNJ11c.135C= (p.Phe45=)
c.102C= (p.Phe34=)
c.363C= (p.Phe121=)
c.380C=
n.521C=
11g.17387729G>TCA379774159KCNJ11c.135C>A (p.Phe45Leu)
c.102C>A (p.Phe34Leu)
c.363C>A (p.Phe121Leu)
c.380C>A
n.521C>A
11g.17387730A>CCA379774160KCNJ11c.134T>G (p.Phe45Cys)
c.101T>G (p.Phe34Cys)
c.362T>G (p.Phe121Cys)
c.379T>G
n.520T>G
11g.17387730A>GCA379774165KCNJ11c.134T>C (p.Phe45Ser)
c.101T>C (p.Phe34Ser)
c.362T>C (p.Phe121Ser)
c.379T>C
n.520T>C
11g.17387730A>TCA379774162KCNJ11c.134T>A (p.Phe45Tyr)
c.101T>A (p.Phe34Tyr)
c.362T>A (p.Phe121Tyr)
c.379T>A
n.520T>A
11g.17387731A>CCA379774169KCNJ11c.133T>G (p.Phe45Val)
c.100T>G (p.Phe34Val)
c.361T>G (p.Phe121Val)
c.378T>G
n.519T>G
11g.17387731A>GCA379774171KCNJ11c.133T>C (p.Phe45Leu)
c.100T>C (p.Phe34Leu)
c.361T>C (p.Phe121Leu)
c.378T>C
n.519T>C
11g.17387731A>TCA379774174KCNJ11c.133T>A (p.Phe45Ile)
c.100T>A (p.Phe34Ile)
c.361T>A (p.Phe121Ile)
c.378T>A
n.519T>A
11g.17387732G>ACA473515634KCNJ11c.132C>T (p.Ala44=)
c.99C>T (p.Ala33=)
c.360C>T (p.Ala120=)
c.377C>T
n.518C>T
11g.17387732G>CCA473515635KCNJ11c.132C>G (p.Ala44=)
c.99C>G (p.Ala33=)
c.360C>G (p.Ala120=)
c.377C>G
n.518C>G
11g.17387732G>TCA473515636KCNJ11c.132C>A (p.Ala44=)
c.99C>A (p.Ala33=)
c.360C>A (p.Ala120=)
c.377C>A
n.518C>A
11g.17387733G>ACA379774177KCNJ11c.131C>T (p.Ala44Val)
c.98C>T (p.Ala33Val)
c.359C>T (p.Ala120Val)
c.376C>T
n.517C>T
11g.17387733G>CCA379774179KCNJ11c.131C>G (p.Ala44Gly)
c.98C>G (p.Ala33Gly)
c.359C>G (p.Ala120Gly)
c.376C>G
n.517C>G
11g.17387733G>TCA379774182KCNJ11c.131C>A (p.Ala44Asp)
c.98C>A (p.Ala33Asp)
c.359C>A (p.Ala120Asp)
c.376C>A
n.517C>A
11g.17387733_17387734delinsGCCA1955119369KCNJ11c.130_131delinsGC (p.Ala44=)
c.97_98delinsGC (p.Ala33=)
c.358_359delinsGC (p.Ala120=)
c.375_376delinsGC
n.516_517delinsGC
11g.17387734delCA597904312KCNJ11c.130del (p.Ala44ProfsTer10)
c.97del (p.Ala33ProfsTer10)
c.358del (p.Ala120ProfsTer10)
c.375del
n.516del
 dbSNP gnomAD v2 gnomAD v4
11g.17387734C>ACA379774186KCNJ11c.130G>T (p.Ala44Ser)
c.97G>T (p.Ala33Ser)
c.358G>T (p.Ala120Ser)
c.375G>T
n.516G>T
11g.17387734C=CA1955119370KCNJ11c.130G= (p.Ala44=)
c.97G= (p.Ala33=)
c.358G= (p.Ala120=)
c.375G=
n.516G=
11g.17387734C>GCA379774189KCNJ11c.130G>C (p.Ala44Pro)
c.97G>C (p.Ala33Pro)
c.358G>C (p.Ala120Pro)
c.375G>C
n.516G>C
11g.17387734C>TCA379774191KCNJ11c.130G>A (p.Ala44Thr)
c.97G>A (p.Ala33Thr)
c.358G>A (p.Ala120Thr)
c.375G>A
n.516G>A
 dbSNP
11g.17387735A=CA1955119371KCNJ11c.129T= (p.Ser43=)
c.96T= (p.Ser32=)
c.357T= (p.Ser119=)
c.374T=
n.515T=
11g.17387735A>CCA473515637KCNJ11c.129T>G (p.Ser43=)
c.96T>G (p.Ser32=)
c.357T>G (p.Ser119=)
c.374T>G
n.515T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.17387735A>GCA473515638KCNJ11c.129T>C (p.Ser43=)
c.96T>C (p.Ser32=)
c.357T>C (p.Ser119=)
c.374T>C
n.515T>C
11g.17387735A>TCA473515640KCNJ11c.129T>A (p.Ser43=)
c.96T>A (p.Ser32=)
c.357T>A (p.Ser119=)
c.374T>A
n.515T>A
11g.17387736G>ACA379774195KCNJ11c.128C>T (p.Ser43Phe)
c.95C>T (p.Ser32Phe)
c.356C>T (p.Ser119Phe)
c.373C>T
n.514C>T
11g.17387736G>CCA379774199KCNJ11c.128C>G (p.Ser43Cys)
c.95C>G (p.Ser32Cys)
c.356C>G (p.Ser119Cys)
c.373C>G
n.514C>G
11g.17387736G>TCA379774212KCNJ11c.128C>A (p.Ser43Tyr)
c.95C>A (p.Ser32Tyr)
c.356C>A (p.Ser119Tyr)
c.373C>A
n.514C>A
11g.17387736dupCA2695213247KCNJ11c.128dup (p.Ala44CysfsTer7)
c.95dup (p.Ala33CysfsTer7)
c.356dup (p.Ala120CysfsTer7)
c.373dup
n.514dup
11g.17387737A=CA1955119372KCNJ11c.127T= (p.Ser43=)
c.94T= (p.Ser32=)
c.355T= (p.Ser119=)
c.372T=
n.513T=
11g.17387737A>CCA5902296KCNJ11c.127T>G (p.Ser43Ala)
c.94T>G (p.Ser32Ala)
c.355T>G (p.Ser119Ala)
c.372T>G
n.513T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387737A>GCA379774215KCNJ11c.127T>C (p.Ser43Pro)
c.94T>C (p.Ser32Pro)
c.355T>C (p.Ser119Pro)
c.372T>C
n.513T>C
11g.17387737A>TCA379774217KCNJ11c.127T>A (p.Ser43Thr)
c.94T>A (p.Ser32Thr)
c.355T>A (p.Ser119Thr)
c.372T>A
n.513T>A
11g.17387738C>ACA473515644KCNJ11c.126G>T (p.Ser42=)
c.93G>T (p.Ser31=)
c.354G>T (p.Ser118=)
c.371G>T
n.512G>T
11g.17387738C=CA1955119373KCNJ11c.126G= (p.Ser42=)
c.93G= (p.Ser31=)
c.354G= (p.Ser118=)
c.371G=
n.512G=
11g.17387738C>GCA473515641KCNJ11c.126G>C (p.Ser42=)
c.93G>C (p.Ser31=)
c.354G>C (p.Ser118=)
c.371G>C
n.512G>C
 gnomAD v4
11g.17387738C>TCA5902297KCNJ11c.126G>A (p.Ser42=)
c.93G>A (p.Ser31=)
c.354G>A (p.Ser118=)
c.371G>A
n.512G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387739G>ACA5902299KCNJ11c.125C>T (p.Ser42Leu)
c.92C>T (p.Ser31Leu)
c.353C>T (p.Ser118Leu)
c.370C>T
n.511C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.17387739G>CCA379774228KCNJ11c.125C>G (p.Ser42Trp)
c.92C>G (p.Ser31Trp)
c.353C>G (p.Ser118Trp)
c.370C>G
n.511C>G
11g.17387739G=CA1955119375KCNJ11c.125C= (p.Ser42=)
c.92C= (p.Ser31=)
c.353C= (p.Ser118=)
c.370C=
n.511C=
11g.17387739G>TCA379774230KCNJ11c.125C>A (p.Ser42Ter)
c.92C>A (p.Ser31Ter)
c.353C>A (p.Ser118Ter)
c.370C>A
n.511C>A
11g.17387739_17387742delinsGAGACA1955119374KCNJ11c.122_125delinsTCTC (p.Phe41=)
c.89_92delinsTCTC (p.Phe30=)
c.350_353delinsTCTC (p.Phe117=)
c.367_370delinsTCTC
n.508_511delinsTCTC
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.17387740A>CCA379774236KCNJ11c.124T>G (p.Ser42Ala)
c.91T>G (p.Ser31Ala)
c.352T>G (p.Ser118Ala)
c.369T>G
n.510T>G
11g.17387740A>GCA379774238KCNJ11c.124T>C (p.Ser42Pro)
c.91T>C (p.Ser31Pro)
c.352T>C (p.Ser118Pro)
c.369T>C
n.510T>C
11g.17387740A>TCA379774241KCNJ11c.124T>A (p.Ser42Thr)
c.91T>A (p.Ser31Thr)
c.352T>A (p.Ser118Thr)
c.369T>A
n.510T>A
11g.17387742_17387744delCA5902298KCNJ11c.122_124del (p.Phe41del)
c.89_91del (p.Phe30del)
c.350_352del (p.Phe117del)
c.367_369del
n.508_510del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.17387741G>ACA473515646KCNJ11c.123C>T (p.Phe41=)
c.90C>T (p.Phe30=)
c.351C>T (p.Phe117=)
c.368C>T
n.509C>T
 dbSNP gnomAD v2 gnomAD v4
11g.17387741G>CCA379774246KCNJ11c.123C>G (p.Phe41Leu)
c.90C>G (p.Phe30Leu)
c.351C>G (p.Phe117Leu)
c.368C>G
n.509C>G
11g.17387741G=CA1955119376KCNJ11c.123C= (p.Phe41=)
c.90C= (p.Phe30=)
c.351C= (p.Phe117=)
c.368C=
n.509C=
11g.17387741G>TCA379774248KCNJ11c.123C>A (p.Phe41Leu)
c.90C>A (p.Phe30Leu)
c.351C>A (p.Phe117Leu)
c.368C>A
n.509C>A
11g.17387742A>CCA379774256KCNJ11c.122T>G (p.Phe41Cys)
c.89T>G (p.Phe30Cys)
c.350T>G (p.Phe117Cys)
c.367T>G
n.508T>G
11g.17387742A>GCA379774254KCNJ11c.122T>C (p.Phe41Ser)
c.89T>C (p.Phe30Ser)
c.350T>C (p.Phe117Ser)
c.367T>C
n.508T>C
11g.17387742A>TCA379774251KCNJ11c.122T>A (p.Phe41Tyr)
c.89T>A (p.Phe30Tyr)
c.350T>A (p.Phe117Tyr)
c.367T>A
n.508T>A
11g.17387743A>CCA379774260KCNJ11c.121T>G (p.Phe41Val)
c.88T>G (p.Phe30Val)
c.349T>G (p.Phe117Val)
c.366T>G
n.507T>G
11g.17387743A>GCA379774263KCNJ11c.121T>C (p.Phe41Leu)
c.88T>C (p.Phe30Leu)
c.349T>C (p.Phe117Leu)
c.366T>C
n.507T>C
11g.17387743A>TCA379774265KCNJ11c.121T>A (p.Phe41Ile)
c.88T>A (p.Phe30Ile)
c.349T>A (p.Phe117Ile)
c.366T>A
n.507T>A
11g.17387744G>ACA473515650KCNJ11c.120C>T (p.Ser40=)
c.87C>T (p.Ser29=)
c.348C>T (p.Ser116=)
c.365C>T
n.506C>T
 gnomAD v4
11g.17387744G>CCA473515651KCNJ11c.120C>G (p.Ser40=)
c.87C>G (p.Ser29=)
c.348C>G (p.Ser116=)
c.365C>G
n.506C>G
11g.17387744G>TCA473515652KCNJ11c.120C>A (p.Ser40=)
c.87C>A (p.Ser29=)
c.348C>A (p.Ser116=)
c.365C>A
n.506C>A
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
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

Number of alleles fetched