Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.150958208_150958221delCA2695208634KCNH2n.1588_1601del
c.755_768del (p.Arg252GlnfsTer?)
c.407_420del (p.Arg136GlnfsTer?)
n.978_991del
c.455_468del (p.Arg152GlnfsTer?)
c.605_618del (p.Arg202GlnfsTer?)
c.578_591del (p.Arg193GlnfsTer?)
7g.150958211_150958222delCA2685607687KCNH2n.1588_1599del
c.755_766del (p.Arg252_Ser255del)
c.407_418del (p.Arg136_Ser139del)
n.978_989del
c.455_466del (p.Arg152_Ser155del)
c.605_616del (p.Arg202_Ser205del)
c.578_589del (p.Arg193_Ser196del)
gnomAD v4
7g.150958217_150958234dupCA2685607721KCNH2n.1576_1593dup
c.743_760dup (p.Ala253_His254insLeuProSerProArgAla)
c.395_412dup (p.Ala137_His138insLeuProSerProArgAla)
n.966_983dup
c.443_460dup (p.Ala153_His154insLeuProSerProArgAla)
c.593_610dup (p.Ala203_His204insLeuProSerProArgAla)
c.566_583dup (p.Ala194_His195insLeuProSerProArgAla)
gnomAD v4
7g.150958219_150958221delCA2695208636KCNH2n.1587_1589del
c.754_756del (p.Arg252del)
c.406_408del (p.Arg136del)
n.977_979del
c.454_456del (p.Arg152del)
c.604_606del (p.Arg202del)
c.577_579del (p.Arg193del)
7g.150958221G>ACA169081266KCNH2n.1587C>T
c.754C>T (p.Arg252Trp)
c.406C>T (p.Arg136Trp)
n.977C>T
c.454C>T (p.Arg152Trp)
c.604C>T (p.Arg202Trp)
c.577C>T (p.Arg193Trp)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958221G>CCA008755KCNH2n.1587C>G
c.754C>G (p.Arg252Gly)
c.406C>G (p.Arg136Gly)
n.977C>G
c.454C>G (p.Arg152Gly)
c.604C>G (p.Arg202Gly)
c.577C>G (p.Arg193Gly)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958221G=CA1752418128KCNH2n.1587C=
c.754C= (p.Arg252=)
c.406C= (p.Arg136=)
n.977C=
c.454C= (p.Arg152=)
c.604C= (p.Arg202=)
c.577C= (p.Arg193=)
7g.150958221G>TCA169081268KCNH2n.1587C>A
c.754C>A (p.Arg252=)
c.406C>A (p.Arg136=)
n.977C>A
c.454C>A (p.Arg152=)
c.604C>A (p.Arg202=)
c.577C>A (p.Arg193=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958224delCA2685607759KCNH2n.1587del
c.754del (p.Arg252GlyfsTer?)
c.406del (p.Arg136GlyfsTer?)
n.977del
c.454del (p.Arg152GlyfsTer?)
c.604del (p.Arg202GlyfsTer?)
c.577del (p.Arg193GlyfsTer?)
gnomAD v4
7g.150958223_150958242dupCA305302KCNH2n.1568_1587dup
c.735_754dup (p.Arg252ProfsTer?)
c.387_406dup (p.Arg136ProfsTer?)
n.958_977dup
c.435_454dup (p.Arg152ProfsTer?)
c.585_604dup (p.Arg202ProfsTer?)
c.558_577dup (p.Arg193ProfsTer?)
ClinVar dbSNP
7g.150958222G>ACA458872083KCNH2n.1586C>T
c.753C>T (p.Pro251=)
c.405C>T (p.Pro135=)
n.976C>T
c.453C>T (p.Pro151=)
c.603C>T (p.Pro201=)
c.576C>T (p.Pro192=)
gnomAD v4
7g.150958222G>CCA458872084KCNH2n.1586C>G
c.753C>G (p.Pro251=)
c.405C>G (p.Pro135=)
n.976C>G
c.453C>G (p.Pro151=)
c.603C>G (p.Pro201=)
c.576C>G (p.Pro192=)
7g.150958222G>TCA458872086KCNH2n.1586C>A
c.753C>A (p.Pro251=)
c.405C>A (p.Pro135=)
n.976C>A
c.453C>A (p.Pro151=)
c.603C>A (p.Pro201=)
c.576C>A (p.Pro192=)
gnomAD v4
7g.150958223G>ACA369862628KCNH2n.1585C>T
c.752C>T (p.Pro251Leu)
c.404C>T (p.Pro135Leu)
n.975C>T
c.452C>T (p.Pro151Leu)
c.602C>T (p.Pro201Leu)
c.575C>T (p.Pro192Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958223G>CCA369862630KCNH2n.1585C>G
c.752C>G (p.Pro251Arg)
c.404C>G (p.Pro135Arg)
n.975C>G
c.452C>G (p.Pro151Arg)
c.602C>G (p.Pro201Arg)
c.575C>G (p.Pro192Arg)
7g.150958223G=CA1752418131KCNH2n.1585C=
c.752C= (p.Pro251=)
c.404C= (p.Pro135=)
n.975C=
c.452C= (p.Pro151=)
c.602C= (p.Pro201=)
c.575C= (p.Pro192=)
7g.150958223G>TCA369862632KCNH2n.1585C>A
c.752C>A (p.Pro251His)
c.404C>A (p.Pro135His)
n.975C>A
c.452C>A (p.Pro151His)
c.602C>A (p.Pro201His)
c.575C>A (p.Pro192His)
gnomAD v4
7g.150958224G>ACA008748KCNH2n.1584C>T
c.751C>T (p.Pro251Ser)
c.403C>T (p.Pro135Ser)
n.974C>T
c.451C>T (p.Pro151Ser)
c.601C>T (p.Pro201Ser)
c.574C>T (p.Pro192Ser)
ClinVar dbSNP gnomAD v4
7g.150958224G>CCA008740KCNH2n.1584C>G
c.751C>G (p.Pro251Ala)
c.403C>G (p.Pro135Ala)
n.974C>G
c.451C>G (p.Pro151Ala)
c.601C>G (p.Pro201Ala)
c.574C>G (p.Pro192Ala)
ClinVar dbSNP
7g.150958224G=CA1752418136KCNH2n.1584C=
c.751C= (p.Pro251=)
c.403C= (p.Pro135=)
n.974C=
c.451C= (p.Pro151=)
c.601C= (p.Pro201=)
c.574C= (p.Pro192=)
7g.150958224G>TCA369862636KCNH2n.1584C>A
c.751C>A (p.Pro251Thr)
c.403C>A (p.Pro135Thr)
n.974C>A
c.451C>A (p.Pro151Thr)
c.601C>A (p.Pro201Thr)
c.574C>A (p.Pro192Thr)
gnomAD v4
7g.150958224_150958225delinsAGCA2573141817KCNH2n.1583_1584delinsCT
c.750_751delinsCT (p.Pro251Ser)
c.402_403delinsCT (p.Pro135Ser)
n.973_974delinsCT
c.450_451delinsCT (p.Pro151Ser)
c.600_601delinsCT (p.Pro201Ser)
c.573_574delinsCT (p.Pro192Ser)
ClinVar dbSNP
7g.150958225C>ACA458872088KCNH2n.1583G>T
c.750G>T (p.Ser250=)
c.402G>T (p.Ser134=)
n.973G>T
c.450G>T (p.Ser150=)
c.600G>T (p.Ser200=)
c.573G>T (p.Ser191=)
dbSNP gnomAD v4
7g.150958225C=CA1752418140KCNH2n.1583G=
c.750G= (p.Ser250=)
c.402G= (p.Ser134=)
n.973G=
c.450G= (p.Ser150=)
c.600G= (p.Ser200=)
c.573G= (p.Ser191=)
7g.150958225C>GCA458872090KCNH2n.1583G>C
c.750G>C (p.Ser250=)
c.402G>C (p.Ser134=)
n.973G>C
c.450G>C (p.Ser150=)
c.600G>C (p.Ser200=)
c.573G>C (p.Ser191=)
dbSNP gnomAD v4
7g.150958225C>TCA458872089KCNH2n.1583G>A
c.750G>A (p.Ser250=)
c.402G>A (p.Ser134=)
n.973G>A
c.450G>A (p.Ser150=)
c.600G>A (p.Ser200=)
c.573G>A (p.Ser191=)
ClinVar gnomAD v4
7g.150958226G>ACA369862638KCNH2n.1582C>T
c.749C>T (p.Ser250Leu)
c.401C>T (p.Ser134Leu)
n.972C>T
c.449C>T (p.Ser150Leu)
c.599C>T (p.Ser200Leu)
c.572C>T (p.Ser191Leu)
dbSNP gnomAD v4
7g.150958226G>CCA369862640KCNH2n.1582C>G
c.749C>G (p.Ser250Trp)
c.401C>G (p.Ser134Trp)
n.972C>G
c.449C>G (p.Ser150Trp)
c.599C>G (p.Ser200Trp)
c.572C>G (p.Ser191Trp)
7g.150958226G=CA1752418142KCNH2n.1582C=
c.749C= (p.Ser250=)
c.401C= (p.Ser134=)
n.972C=
c.449C= (p.Ser150=)
c.599C= (p.Ser200=)
c.572C= (p.Ser191=)
7g.150958226G>TCA008733KCNH2n.1582C>A
c.749C>A (p.Ser250Ter)
c.401C>A (p.Ser134Ter)
n.972C>A
c.449C>A (p.Ser150Ter)
c.599C>A (p.Ser200Ter)
c.572C>A (p.Ser191Ter)
ClinVar dbSNP gnomAD v4
7g.150958227A>CCA369862643KCNH2n.1581T>G
c.748T>G (p.Ser250Ala)
c.400T>G (p.Ser134Ala)
n.971T>G
c.448T>G (p.Ser150Ala)
c.598T>G (p.Ser200Ala)
c.571T>G (p.Ser191Ala)
7g.150958227A>GCA369862645KCNH2n.1581T>C
c.748T>C (p.Ser250Pro)
c.400T>C (p.Ser134Pro)
n.971T>C
c.448T>C (p.Ser150Pro)
c.598T>C (p.Ser200Pro)
c.571T>C (p.Ser191Pro)
gnomAD v4
7g.150958227A>TCA369862642KCNH2n.1581T>A
c.748T>A (p.Ser250Thr)
c.400T>A (p.Ser134Thr)
n.971T>A
c.448T>A (p.Ser150Thr)
c.598T>A (p.Ser200Thr)
c.571T>A (p.Ser191Thr)
ClinVar dbSNP
7g.150958228T>ACA458872096KCNH2n.1580A>T
c.747A>T (p.Pro249=)
c.399A>T (p.Pro133=)
n.970A>T
c.447A>T (p.Pro149=)
c.597A>T (p.Pro199=)
c.570A>T (p.Pro190=)
7g.150958228T>CCA458872097KCNH2n.1580A>G
c.747A>G (p.Pro249=)
c.399A>G (p.Pro133=)
n.970A>G
c.447A>G (p.Pro149=)
c.597A>G (p.Pro199=)
c.570A>G (p.Pro190=)
ClinVar dbSNP gnomAD v4
7g.150958228T>GCA458872098KCNH2n.1580A>C
c.747A>C (p.Pro249=)
c.399A>C (p.Pro133=)
n.970A>C
c.447A>C (p.Pro149=)
c.597A>C (p.Pro199=)
c.570A>C (p.Pro190=)
7g.150958229G>ACA369862649KCNH2n.1579C>T
c.746C>T (p.Pro249Leu)
c.398C>T (p.Pro133Leu)
n.969C>T
c.446C>T (p.Pro149Leu)
c.596C>T (p.Pro199Leu)
c.569C>T (p.Pro190Leu)
dbSNP gnomAD v4
7g.150958229G>CCA369862648KCNH2n.1579C>G
c.746C>G (p.Pro249Arg)
c.398C>G (p.Pro133Arg)
n.969C>G
c.446C>G (p.Pro149Arg)
c.596C>G (p.Pro199Arg)
c.569C>G (p.Pro190Arg)
7g.150958229G=CA1752418146KCNH2n.1579C=
c.746C= (p.Pro249=)
c.398C= (p.Pro133=)
n.969C=
c.446C= (p.Pro149=)
c.596C= (p.Pro199=)
c.569C= (p.Pro190=)
7g.150958229G>TCA369862651KCNH2n.1579C>A
c.746C>A (p.Pro249Gln)
c.398C>A (p.Pro133Gln)
n.969C>A
c.446C>A (p.Pro149Gln)
c.596C>A (p.Pro199Gln)
c.569C>A (p.Pro190Gln)
gnomAD v4
7g.150958231delCA2582341955KCNH2n.1579del
c.746del (p.Pro249HisfsTer?)
c.398del (p.Pro133HisfsTer?)
n.969del
c.446del (p.Pro149HisfsTer?)
c.596del (p.Pro199HisfsTer?)
c.569del (p.Pro190HisfsTer?)
ClinVar gnomAD v4
7g.150958230G>ACA369862654KCNH2n.1578C>T
c.745C>T (p.Pro249Ser)
c.397C>T (p.Pro133Ser)
n.968C>T
c.445C>T (p.Pro149Ser)
c.595C>T (p.Pro199Ser)
c.568C>T (p.Pro190Ser)
gnomAD v4
7g.150958230G>CCA369862655KCNH2n.1578C>G
c.745C>G (p.Pro249Ala)
c.397C>G (p.Pro133Ala)
n.968C>G
c.445C>G (p.Pro149Ala)
c.595C>G (p.Pro199Ala)
c.568C>G (p.Pro190Ala)
7g.150958230G>TCA369862657KCNH2n.1578C>A
c.745C>A (p.Pro249Thr)
c.397C>A (p.Pro133Thr)
n.968C>A
c.445C>A (p.Pro149Thr)
c.595C>A (p.Pro199Thr)
c.568C>A (p.Pro190Thr)
gnomAD v4
7g.150958231G>ACA458872107KCNH2n.1577C>T
c.744C>T (p.Leu248=)
c.396C>T (p.Leu132=)
n.967C>T
c.444C>T (p.Leu148=)
c.594C>T (p.Leu198=)
c.567C>T (p.Leu189=)
gnomAD v4
7g.150958231G>CCA458872111KCNH2n.1577C>G
c.744C>G (p.Leu248=)
c.396C>G (p.Leu132=)
n.967C>G
c.444C>G (p.Leu148=)
c.594C>G (p.Leu198=)
c.567C>G (p.Leu189=)
ClinVar dbSNP gnomAD v4
7g.150958231G=CA1752418149KCNH2n.1577C=
c.744C= (p.Leu248=)
c.396C= (p.Leu132=)
n.967C=
c.444C= (p.Leu148=)
c.594C= (p.Leu198=)
c.567C= (p.Leu189=)
7g.150958231G>TCA458872113KCNH2n.1577C>A
c.744C>A (p.Leu248=)
c.396C>A (p.Leu132=)
n.967C>A
c.444C>A (p.Leu148=)
c.594C>A (p.Leu198=)
c.567C>A (p.Leu189=)
gnomAD v4
7g.150958232A=CA1752418150KCNH2n.1576T=
c.743T= (p.Leu248=)
c.395T= (p.Leu132=)
n.966T=
c.443T= (p.Leu148=)
c.593T= (p.Leu198=)
c.566T= (p.Leu189=)
7g.150958232A>CCA369862659KCNH2n.1576T>G
c.743T>G (p.Leu248Arg)
c.395T>G (p.Leu132Arg)
n.966T>G
c.443T>G (p.Leu148Arg)
c.593T>G (p.Leu198Arg)
c.566T>G (p.Leu189Arg)
ClinVar dbSNP
7g.150958232A>GCA369862661KCNH2n.1576T>C
c.743T>C (p.Leu248Pro)
c.395T>C (p.Leu132Pro)
n.966T>C
c.443T>C (p.Leu148Pro)
c.593T>C (p.Leu198Pro)
c.566T>C (p.Leu189Pro)
gnomAD v4
7g.150958232A>TCA369862662KCNH2n.1576T>A
c.743T>A (p.Leu248His)
c.395T>A (p.Leu132His)
n.966T>A
c.443T>A (p.Leu148His)
c.593T>A (p.Leu198His)
c.566T>A (p.Leu189His)
7g.150958233G>ACA369862664KCNH2n.1575C>T
c.742C>T (p.Leu248Phe)
c.394C>T (p.Leu132Phe)
n.965C>T
c.442C>T (p.Leu148Phe)
c.592C>T (p.Leu198Phe)
c.565C>T (p.Leu189Phe)
gnomAD v4
7g.150958233G>CCA369862666KCNH2n.1575C>G
c.742C>G (p.Leu248Val)
c.394C>G (p.Leu132Val)
n.965C>G
c.442C>G (p.Leu148Val)
c.592C>G (p.Leu198Val)
c.565C>G (p.Leu189Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958233G=CA1752418151KCNH2n.1575C=
c.742C= (p.Leu248=)
c.394C= (p.Leu132=)
n.965C=
c.442C= (p.Leu148=)
c.592C= (p.Leu198=)
c.565C= (p.Leu189=)
7g.150958233G>TCA369862667KCNH2n.1575C>A
c.742C>A (p.Leu248Ile)
c.394C>A (p.Leu132Ile)
n.965C>A
c.442C>A (p.Leu148Ile)
c.592C>A (p.Leu198Ile)
c.565C>A (p.Leu189Ile)
gnomAD v4
7g.150958237_150958249delCA2695208637KCNH2n.1563_1575del
c.730_742del (p.Ala244SerfsTer?)
c.382_394del (p.Ala128SerfsTer?)
n.953_965del
c.430_442del (p.Ala144SerfsTer?)
c.580_592del (p.Ala194SerfsTer?)
c.553_565del (p.Ala185SerfsTer?)
7g.150958234C>ACA369862668KCNH2n.1574G>T
c.741G>T (p.Gln247His)
c.393G>T (p.Gln131His)
n.964G>T
c.441G>T (p.Gln147His)
c.591G>T (p.Gln197His)
c.564G>T (p.Gln188His)
gnomAD v4
7g.150958234C>GCA369862669KCNH2n.1574G>C
c.741G>C (p.Gln247His)
c.393G>C (p.Gln131His)
n.964G>C
c.441G>C (p.Gln147His)
c.591G>C (p.Gln197His)
c.564G>C (p.Gln188His)
7g.150958234C>TCA072053KCNH2n.1574G>A
c.741G>A (p.Gln247=)
c.393G>A (p.Gln131=)
n.964G>A
c.441G>A (p.Gln147=)
c.591G>A (p.Gln197=)
c.564G>A (p.Gln188=)
gnomAD v4
7g.150958235T>ACA369862672KCNH2n.1573A>T
c.740A>T (p.Gln247Leu)
c.392A>T (p.Gln131Leu)
n.963A>T
c.440A>T (p.Gln147Leu)
c.590A>T (p.Gln197Leu)
c.563A>T (p.Gln188Leu)
7g.150958235T>CCA369862671KCNH2n.1573A>G
c.740A>G (p.Gln247Arg)
c.392A>G (p.Gln131Arg)
n.963A>G
c.440A>G (p.Gln147Arg)
c.590A>G (p.Gln197Arg)
c.563A>G (p.Gln188Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958235T>GCA369862670KCNH2n.1573A>C
c.740A>C (p.Gln247Pro)
c.392A>C (p.Gln131Pro)
n.963A>C
c.440A>C (p.Gln147Pro)
c.590A>C (p.Gln197Pro)
c.563A>C (p.Gln188Pro)
7g.150958235T=CA1752418152KCNH2n.1573A=
c.740A= (p.Gln247=)
c.392A= (p.Gln131=)
n.963A=
c.440A= (p.Gln147=)
c.590A= (p.Gln197=)
c.563A= (p.Gln188=)
7g.150958236G>ACA369862673KCNH2n.1572C>T
c.739C>T (p.Gln247Ter)
c.391C>T (p.Gln131Ter)
n.962C>T
c.439C>T (p.Gln147Ter)
c.589C>T (p.Gln197Ter)
c.562C>T (p.Gln188Ter)
gnomAD v4
7g.150958236G>CCA369862674KCNH2n.1572C>G
c.739C>G (p.Gln247Glu)
c.391C>G (p.Gln131Glu)
n.962C>G
c.439C>G (p.Gln147Glu)
c.589C>G (p.Gln197Glu)
c.562C>G (p.Gln188Glu)
7g.150958236G>TCA369862675KCNH2n.1572C>A
c.739C>A (p.Gln247Lys)
c.391C>A (p.Gln131Lys)
n.962C>A
c.439C>A (p.Gln147Lys)
c.589C>A (p.Gln197Lys)
c.562C>A (p.Gln188Lys)
gnomAD v4
7g.150958237G>ACA458872126KCNH2n.1571C>T
c.738C>T (p.Gly246=)
c.390C>T (p.Gly130=)
n.961C>T
c.438C>T (p.Gly146=)
c.588C>T (p.Gly196=)
c.561C>T (p.Gly187=)
ClinVar gnomAD v4
7g.150958237G>CCA458872128KCNH2n.1571C>G
c.738C>G (p.Gly246=)
c.390C>G (p.Gly130=)
n.961C>G
c.438C>G (p.Gly146=)
c.588C>G (p.Gly196=)
c.561C>G (p.Gly187=)
gnomAD v4
7g.150958237G=CA1752418154KCNH2n.1571C=
c.738C= (p.Gly246=)
c.390C= (p.Gly130=)
n.961C=
c.438C= (p.Gly146=)
c.588C= (p.Gly196=)
c.561C= (p.Gly187=)
7g.150958237G>TCA458872130KCNH2n.1571C>A
c.738C>A (p.Gly246=)
c.390C>A (p.Gly130=)
n.961C>A
c.438C>A (p.Gly146=)
c.588C>A (p.Gly196=)
c.561C>A (p.Gly187=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958238C>ACA369862676KCNH2n.1570G>T
c.737G>T (p.Gly246Val)
c.389G>T (p.Gly130Val)
n.960G>T
c.437G>T (p.Gly146Val)
c.587G>T (p.Gly196Val)
c.560G>T (p.Gly187Val)
gnomAD v4
7g.150958238C>GCA369862677KCNH2n.1570G>C
c.737G>C (p.Gly246Ala)
c.389G>C (p.Gly130Ala)
n.960G>C
c.437G>C (p.Gly146Ala)
c.587G>C (p.Gly196Ala)
c.560G>C (p.Gly187Ala)
gnomAD v4
7g.150958238C>TCA369862678KCNH2n.1570G>A
c.737G>A (p.Gly246Asp)
c.389G>A (p.Gly130Asp)
n.960G>A
c.437G>A (p.Gly146Asp)
c.587G>A (p.Gly196Asp)
c.560G>A (p.Gly187Asp)
gnomAD v4
7g.150958239C>ACA16605738KCNH2n.1569G>T
c.736G>T (p.Gly246Cys)
c.388G>T (p.Gly130Cys)
n.959G>T
c.436G>T (p.Gly146Cys)
c.586G>T (p.Gly196Cys)
c.559G>T (p.Gly187Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958239C=CA1752418155KCNH2n.1569G=
c.736G= (p.Gly246=)
c.388G= (p.Gly130=)
n.959G=
c.436G= (p.Gly146=)
c.586G= (p.Gly196=)
c.559G= (p.Gly187=)
7g.150958239C>GCA369862679KCNH2n.1569G>C
c.736G>C (p.Gly246Arg)
c.388G>C (p.Gly130Arg)
n.959G>C
c.436G>C (p.Gly146Arg)
c.586G>C (p.Gly196Arg)
c.559G>C (p.Gly187Arg)
gnomAD v4
7g.150958239C>TCA369862680KCNH2n.1569G>A
c.736G>A (p.Gly246Ser)
c.388G>A (p.Gly130Ser)
n.959G>A
c.436G>A (p.Gly146Ser)
c.586G>A (p.Gly196Ser)
c.559G>A (p.Gly187Ser)
dbSNP gnomAD v4
7g.150958240G>ACA072040KCNH2n.1568C>T
c.735C>T (p.Pro245=)
c.387C>T (p.Pro129=)
n.958C>T
c.435C>T (p.Pro145=)
c.585C>T (p.Pro195=)
c.558C>T (p.Pro186=)
ClinVar dbSNP gnomAD v4
7g.150958240G>CCA458872137KCNH2n.1568C>G
c.735C>G (p.Pro245=)
c.387C>G (p.Pro129=)
n.958C>G
c.435C>G (p.Pro145=)
c.585C>G (p.Pro195=)
c.558C>G (p.Pro186=)
gnomAD v4
7g.150958240G=CA1752418159KCNH2n.1568C=
c.735C= (p.Pro245=)
c.387C= (p.Pro129=)
n.958C=
c.435C= (p.Pro145=)
c.585C= (p.Pro195=)
c.558C= (p.Pro186=)
7g.150958240G>TCA458872138KCNH2n.1568C>A
c.735C>A (p.Pro245=)
c.387C>A (p.Pro129=)
n.958C>A
c.435C>A (p.Pro145=)
c.585C>A (p.Pro195=)
c.558C>A (p.Pro186=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958242dupCA2580077691KCNH2n.1568dup
c.735dup (p.Gly246ArgfsTer?)
c.387dup (p.Gly130ArgfsTer?)
n.958dup
c.435dup (p.Gly146ArgfsTer?)
c.585dup (p.Gly196ArgfsTer?)
c.558dup (p.Gly187ArgfsTer?)
ClinVar
7g.150958241_150958242dupCA2695208638KCNH2n.1567_1568dup
c.734_735dup (p.Gly246ProfsTer?)
c.386_387dup (p.Gly130ProfsTer?)
n.957_958dup
c.434_435dup (p.Gly146ProfsTer?)
c.584_585dup (p.Gly196ProfsTer?)
c.557_558dup (p.Gly187ProfsTer?)
7g.150958242delCA2685607855KCNH2n.1568del
c.735del (p.Gly246AlafsTer?)
c.387del (p.Gly130AlafsTer?)
n.958del
c.435del (p.Gly146AlafsTer?)
c.585del (p.Gly196AlafsTer?)
c.558del (p.Gly187AlafsTer?)
gnomAD v4
7g.150958241G>ACA369862681KCNH2n.1567C>T
c.734C>T (p.Pro245Leu)
c.386C>T (p.Pro129Leu)
n.957C>T
c.434C>T (p.Pro145Leu)
c.584C>T (p.Pro195Leu)
c.557C>T (p.Pro186Leu)
gnomAD v4
7g.150958241G>CCA369862682KCNH2n.1567C>G
c.734C>G (p.Pro245Arg)
c.386C>G (p.Pro129Arg)
n.957C>G
c.434C>G (p.Pro145Arg)
c.584C>G (p.Pro195Arg)
c.557C>G (p.Pro186Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958241G=CA1752418161KCNH2n.1567C=
c.734C= (p.Pro245=)
c.386C= (p.Pro129=)
n.957C=
c.434C= (p.Pro145=)
c.584C= (p.Pro195=)
c.557C= (p.Pro186=)
7g.150958241G>TCA369862683KCNH2n.1567C>A
c.734C>A (p.Pro245His)
c.386C>A (p.Pro129His)
n.957C>A
c.434C>A (p.Pro145His)
c.584C>A (p.Pro195His)
c.557C>A (p.Pro186His)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958242G>ACA369862686KCNH2n.1566C>T
c.733C>T (p.Pro245Ser)
c.385C>T (p.Pro129Ser)
n.956C>T
c.433C>T (p.Pro145Ser)
c.583C>T (p.Pro195Ser)
c.556C>T (p.Pro186Ser)
gnomAD v4
7g.150958242G>CCA369862685KCNH2n.1566C>G
c.733C>G (p.Pro245Ala)
c.385C>G (p.Pro129Ala)
n.956C>G
c.433C>G (p.Pro145Ala)
c.583C>G (p.Pro195Ala)
c.556C>G (p.Pro186Ala)
7g.150958242G>TCA369862684KCNH2n.1566C>A
c.733C>A (p.Pro245Thr)
c.385C>A (p.Pro129Thr)
n.956C>A
c.433C>A (p.Pro145Thr)
c.583C>A (p.Pro195Thr)
c.556C>A (p.Pro186Thr)
gnomAD v4
7g.150958242_150958243delinsGCCA1752418163KCNH2n.1565_1566delinsGC
c.732_733delinsGC (p.Ala244=)
c.384_385delinsGC (p.Ala128=)
n.955_956delinsGC
c.432_433delinsGC (p.Ala144=)
c.582_583delinsGC (p.Ala194=)
c.555_556delinsGC (p.Ala185=)
7g.150958243delCA008725KCNH2n.1565del
c.732del (p.Gly246AlafsTer?)
c.384del (p.Gly130AlafsTer?)
n.955del
c.432del (p.Gly146AlafsTer?)
c.582del (p.Gly196AlafsTer?)
c.555del (p.Gly187AlafsTer?)
ClinVar dbSNP
7g.150958243C>ACA458872144KCNH2n.1565G>T
c.732G>T (p.Ala244=)
c.384G>T (p.Ala128=)
n.955G>T
c.432G>T (p.Ala144=)
c.582G>T (p.Ala194=)
c.555G>T (p.Ala185=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958243C=CA1752418166KCNH2n.1565G=
c.732G= (p.Ala244=)
c.384G= (p.Ala128=)
n.955G=
c.432G= (p.Ala144=)
c.582G= (p.Ala194=)
c.555G= (p.Ala185=)
7g.150958243C>GCA458872147KCNH2n.1565G>C
c.732G>C (p.Ala244=)
c.384G>C (p.Ala128=)
n.955G>C
c.432G>C (p.Ala144=)
c.582G>C (p.Ala194=)
c.555G>C (p.Ala185=)
gnomAD v4
7g.150958243C>TCA458872148KCNH2n.1565G>A
c.732G>A (p.Ala244=)
c.384G>A (p.Ala128=)
n.955G>A
c.432G>A (p.Ala144=)
c.582G>A (p.Ala194=)
c.555G>A (p.Ala185=)
dbSNP gnomAD v3 gnomAD v4
7g.150958244G>ACA16612195KCNH2n.1564C>T
c.731C>T (p.Ala244Val)
c.383C>T (p.Ala128Val)
n.954C>T
c.431C>T (p.Ala144Val)
c.581C>T (p.Ala194Val)
c.554C>T (p.Ala185Val)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150958244G>CCA040295KCNH2n.1564C>G
c.731C>G (p.Ala244Gly)
c.383C>G (p.Ala128Gly)
n.954C>G
c.431C>G (p.Ala144Gly)
c.581C>G (p.Ala194Gly)
c.554C>G (p.Ala185Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150958244G=CA1752418173KCNH2n.1564C=
c.731C= (p.Ala244=)
c.383C= (p.Ala128=)
n.954C=
c.431C= (p.Ala144=)
c.581C= (p.Ala194=)
c.554C= (p.Ala185=)
7g.150958244G>TCA369862687KCNH2n.1564C>A
c.731C>A (p.Ala244Glu)
c.383C>A (p.Ala128Glu)
n.954C>A
c.431C>A (p.Ala144Glu)
c.581C>A (p.Ala194Glu)
c.554C>A (p.Ala185Glu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958245C>ACA369862688KCNH2n.1563G>T
c.730G>T (p.Ala244Ser)
c.382G>T (p.Ala128Ser)
n.953G>T
c.430G>T (p.Ala144Ser)
c.580G>T (p.Ala194Ser)
c.553G>T (p.Ala185Ser)
gnomAD v4
7g.150958245C=CA1752418181KCNH2n.1563G=
c.730G= (p.Ala244=)
c.382G= (p.Ala128=)
n.953G=
c.430G= (p.Ala144=)
c.580G= (p.Ala194=)
c.553G= (p.Ala185=)
7g.150958245C>GCA369862689KCNH2n.1563G>C
c.730G>C (p.Ala244Pro)
c.382G>C (p.Ala128Pro)
n.953G>C
c.430G>C (p.Ala144Pro)
c.580G>C (p.Ala194Pro)
c.553G>C (p.Ala185Pro)
7g.150958245C>TCA369862690KCNH2n.1563G>A
c.730G>A (p.Ala244Thr)
c.382G>A (p.Ala128Thr)
n.953G>A
c.430G>A (p.Ala144Thr)
c.580G>A (p.Ala194Thr)
c.553G>A (p.Ala185Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958246G>ACA336005KCNH2n.1562C>T
c.729C>T (p.Ser243=)
c.381C>T (p.Ser127=)
n.952C>T
c.429C>T (p.Ser143=)
c.579C>T (p.Ser193=)
c.552C>T (p.Ser184=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958246G>CCA369862691KCNH2n.1562C>G
c.729C>G (p.Ser243Arg)
c.381C>G (p.Ser127Arg)
n.952C>G
c.429C>G (p.Ser143Arg)
c.579C>G (p.Ser193Arg)
c.552C>G (p.Ser184Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958246G=CA1752418185KCNH2n.1562C=
c.729C= (p.Ser243=)
c.381C= (p.Ser127=)
n.952C=
c.429C= (p.Ser143=)
c.579C= (p.Ser193=)
c.552C= (p.Ser184=)
7g.150958246G>TCA369862692KCNH2n.1562C>A
c.729C>A (p.Ser243Arg)
c.381C>A (p.Ser127Arg)
n.952C>A
c.429C>A (p.Ser143Arg)
c.579C>A (p.Ser193Arg)
c.552C>A (p.Ser184Arg)
ClinVar gnomAD v4
7g.150958247C>ACA369862693KCNH2n.1561G>T
c.728G>T (p.Ser243Ile)
c.380G>T (p.Ser127Ile)
n.951G>T
c.428G>T (p.Ser143Ile)
c.578G>T (p.Ser193Ile)
c.551G>T (p.Ser184Ile)
gnomAD v4
7g.150958247C=CA1752418190KCNH2n.1561G=
c.728G= (p.Ser243=)
c.380G= (p.Ser127=)
n.951G=
c.428G= (p.Ser143=)
c.578G= (p.Ser193=)
c.551G= (p.Ser184=)
7g.150958247C>GCA369862694KCNH2n.1561G>C
c.728G>C (p.Ser243Thr)
c.380G>C (p.Ser127Thr)
n.951G>C
c.428G>C (p.Ser143Thr)
c.578G>C (p.Ser193Thr)
c.551G>C (p.Ser184Thr)
7g.150958247C>TCA369862695KCNH2n.1561G>A
c.728G>A (p.Ser243Asn)
c.380G>A (p.Ser127Asn)
n.951G>A
c.428G>A (p.Ser143Asn)
c.578G>A (p.Ser193Asn)
c.551G>A (p.Ser184Asn)
dbSNP gnomAD v3 gnomAD v4
7g.150958248T>ACA369862698KCNH2n.1560A>T
c.727A>T (p.Ser243Cys)
c.379A>T (p.Ser127Cys)
n.950A>T
c.427A>T (p.Ser143Cys)
c.577A>T (p.Ser193Cys)
c.550A>T (p.Ser184Cys)
7g.150958248T>CCA369862696KCNH2n.1560A>G
c.727A>G (p.Ser243Gly)
c.379A>G (p.Ser127Gly)
n.950A>G
c.427A>G (p.Ser143Gly)
c.577A>G (p.Ser193Gly)
c.550A>G (p.Ser184Gly)
gnomAD v4
7g.150958248T>GCA369862697KCNH2n.1560A>C
c.727A>C (p.Ser243Arg)
c.379A>C (p.Ser127Arg)
n.950A>C
c.427A>C (p.Ser143Arg)
c.577A>C (p.Ser193Arg)
c.550A>C (p.Ser184Arg)
7g.150958249G>ACA458872167KCNH2n.1559C>T
c.726C>T (p.Arg242=)
c.378C>T (p.Arg126=)
n.949C>T
c.426C>T (p.Arg142=)
c.576C>T (p.Arg192=)
c.549C>T (p.Arg183=)
ClinVar gnomAD v4
7g.150958249G>CCA458872166KCNH2n.1559C>G
c.726C>G (p.Arg242=)
c.378C>G (p.Arg126=)
n.949C>G
c.426C>G (p.Arg142=)
c.576C>G (p.Arg192=)
c.549C>G (p.Arg183=)
7g.150958249G>TCA458872165KCNH2n.1559C>A
c.726C>A (p.Arg242=)
c.378C>A (p.Arg126=)
n.949C>A
c.426C>A (p.Arg142=)
c.576C>A (p.Arg192=)
c.549C>A (p.Arg183=)
gnomAD v4
7g.150958249_150958250delinsGCCA1752418195KCNH2n.1558_1559delinsGC
c.725_726delinsGC (p.Arg242=)
c.377_378delinsGC (p.Arg126=)
n.948_949delinsGC
c.425_426delinsGC (p.Arg142=)
c.575_576delinsGC (p.Arg192=)
c.548_549delinsGC (p.Arg183=)
7g.150958249_150958250delinsTTCA658656014KCNH2n.1558_1559delinsAA
c.725_726delinsAA (p.Arg242Gln)
c.377_378delinsAA (p.Arg126Gln)
n.948_949delinsAA
c.425_426delinsAA (p.Arg142Gln)
c.575_576delinsAA (p.Arg192Gln)
c.548_549delinsAA (p.Arg183Gln)
ClinVar dbSNP
7g.150958250delCA2685607920KCNH2n.1558del
c.725del (p.Arg242ProfsTer?)
c.377del (p.Arg126ProfsTer?)
n.948del
c.425del (p.Arg142ProfsTer?)
c.575del (p.Arg192ProfsTer?)
c.548del (p.Arg183ProfsTer?)
gnomAD v4
7g.150958250C>ACA369862699KCNH2n.1558G>T
c.725G>T (p.Arg242Leu)
c.377G>T (p.Arg126Leu)
n.948G>T
c.425G>T (p.Arg142Leu)
c.575G>T (p.Arg192Leu)
c.548G>T (p.Arg183Leu)
gnomAD v4
7g.150958250C>GCA369862700KCNH2n.1558G>C
c.725G>C (p.Arg242Pro)
c.377G>C (p.Arg126Pro)
n.948G>C
c.425G>C (p.Arg142Pro)
c.575G>C (p.Arg192Pro)
c.548G>C (p.Arg183Pro)
7g.150958250C>TCA369862702KCNH2n.1558G>A
c.725G>A (p.Arg242His)
c.377G>A (p.Arg126His)
n.948G>A
c.425G>A (p.Arg142His)
c.575G>A (p.Arg192His)
c.548G>A (p.Arg183His)
gnomAD v4
7g.150958251G>ACA369862704KCNH2n.1557C>T
c.724C>T (p.Arg242Cys)
c.376C>T (p.Arg126Cys)
n.947C>T
c.424C>T (p.Arg142Cys)
c.574C>T (p.Arg192Cys)
c.547C>T (p.Arg183Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958251G>CCA008718KCNH2n.1557C>G
c.724C>G (p.Arg242Gly)
c.376C>G (p.Arg126Gly)
n.947C>G
c.424C>G (p.Arg142Gly)
c.574C>G (p.Arg192Gly)
c.547C>G (p.Arg183Gly)
ClinVar dbSNP gnomAD v4
7g.150958251G=CA1752418199KCNH2n.1557C=
c.724C= (p.Arg242=)
c.376C= (p.Arg126=)
n.947C=
c.424C= (p.Arg142=)
c.574C= (p.Arg192=)
c.547C= (p.Arg183=)
7g.150958251G>TCA369862707KCNH2n.1557C>A
c.724C>A (p.Arg242Ser)
c.376C>A (p.Arg126Ser)
n.947C>A
c.424C>A (p.Arg142Ser)
c.574C>A (p.Arg192Ser)
c.547C>A (p.Arg183Ser)
dbSNP gnomAD v4
7g.150958254dupCA658761341KCNH2n.1557dup
c.724dup (p.Arg242ProfsTer?)
c.376dup (p.Arg126ProfsTer?)
n.947dup
c.424dup (p.Arg142ProfsTer?)
c.574dup (p.Arg192ProfsTer?)
c.547dup (p.Arg183ProfsTer?)
7g.150958254delCA2685607926KCNH2n.1557del
c.724del (p.Arg242AlafsTer?)
c.376del (p.Arg126AlafsTer?)
n.947del
c.424del (p.Arg142AlafsTer?)
c.574del (p.Arg192AlafsTer?)
c.547del (p.Arg183AlafsTer?)
gnomAD v4
7g.150958252G>ACA458872171KCNH2n.1556C>T
c.723C>T (p.Pro241=)
c.375C>T (p.Pro125=)
n.946C>T
c.423C>T (p.Pro141=)
c.573C>T (p.Pro191=)
c.546C>T (p.Pro182=)
ClinVar gnomAD v4
7g.150958252G>CCA458872173KCNH2n.1556C>G
c.723C>G (p.Pro241=)
c.375C>G (p.Pro125=)
n.946C>G
c.423C>G (p.Pro141=)
c.573C>G (p.Pro191=)
c.546C>G (p.Pro182=)
7g.150958252G>TCA458872172KCNH2n.1556C>A
c.723C>A (p.Pro241=)
c.375C>A (p.Pro125=)
n.946C>A
c.423C>A (p.Pro141=)
c.573C>A (p.Pro191=)
c.546C>A (p.Pro182=)
gnomAD v4
7g.150958253G>ACA008711KCNH2n.1555C>T
c.722C>T (p.Pro241Leu)
c.374C>T (p.Pro125Leu)
n.945C>T
c.422C>T (p.Pro141Leu)
c.572C>T (p.Pro191Leu)
c.545C>T (p.Pro182Leu)
ClinVar dbSNP gnomAD v4
7g.150958253G>CCA369862710KCNH2n.1555C>G
c.722C>G (p.Pro241Arg)
c.374C>G (p.Pro125Arg)
n.945C>G
c.422C>G (p.Pro141Arg)
c.572C>G (p.Pro191Arg)
c.545C>G (p.Pro182Arg)
dbSNP gnomAD v4
7g.150958253G=CA1752418209KCNH2n.1555C=
c.722C= (p.Pro241=)
c.374C= (p.Pro125=)
n.945C=
c.422C= (p.Pro141=)
c.572C= (p.Pro191=)
c.545C= (p.Pro182=)
7g.150958253G>TCA369862712KCNH2n.1555C>A
c.722C>A (p.Pro241His)
c.374C>A (p.Pro125His)
n.945C>A
c.422C>A (p.Pro141His)
c.572C>A (p.Pro191His)
c.545C>A (p.Pro182His)
gnomAD v4
7g.150958255_150958265delCA2685607947KCNH2n.1545_1555del
c.712_722del (p.Gly238ProfsTer?)
c.364_374del (p.Gly122ProfsTer?)
n.935_945del
c.412_422del (p.Gly138ProfsTer?)
c.562_572del (p.Gly188ProfsTer?)
c.535_545del (p.Gly179ProfsTer?)
gnomAD v4
7g.150958254G>ACA040287KCNH2n.1554C>T
c.721C>T (p.Pro241Ser)
c.373C>T (p.Pro125Ser)
n.944C>T
c.421C>T (p.Pro141Ser)
c.571C>T (p.Pro191Ser)
c.544C>T (p.Pro182Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150958254G>CCA369862714KCNH2n.1554C>G
c.721C>G (p.Pro241Ala)
c.373C>G (p.Pro125Ala)
n.944C>G
c.421C>G (p.Pro141Ala)
c.571C>G (p.Pro191Ala)
c.544C>G (p.Pro182Ala)
7g.150958254G=CA1752418212KCNH2n.1554C=
c.721C= (p.Pro241=)
c.373C= (p.Pro125=)
n.944C=
c.421C= (p.Pro141=)
c.571C= (p.Pro191=)
c.544C= (p.Pro182=)
7g.150958254G>TCA369862716KCNH2n.1554C>A
c.721C>A (p.Pro241Thr)
c.373C>A (p.Pro125Thr)
n.944C>A
c.421C>A (p.Pro141Thr)
c.571C>A (p.Pro191Thr)
c.544C>A (p.Pro182Thr)
gnomAD v4
7g.150958255delCA2685607962KCNH2n.1553del
c.720del (p.Arg242AlafsTer?)
c.372del (p.Arg126AlafsTer?)
n.943del
c.420del (p.Arg142AlafsTer?)
c.570del (p.Arg192AlafsTer?)
c.543del (p.Arg183AlafsTer?)
gnomAD v4
7g.150958255C>ACA458872180KCNH2n.1553G>T
c.720G>T (p.Pro240=)
c.372G>T (p.Pro124=)
n.943G>T
c.420G>T (p.Pro140=)
c.570G>T (p.Pro190=)
c.543G>T (p.Pro181=)
dbSNP gnomAD v4
7g.150958255C=CA1752418216KCNH2n.1553G=
c.720G= (p.Pro240=)
c.372G= (p.Pro124=)
n.943G=
c.420G= (p.Pro140=)
c.570G= (p.Pro190=)
c.543G= (p.Pro181=)
7g.150958255C>GCA458872181KCNH2n.1553G>C
c.720G>C (p.Pro240=)
c.372G>C (p.Pro124=)
n.943G>C
c.420G>C (p.Pro140=)
c.570G>C (p.Pro190=)
c.543G>C (p.Pro181=)
ClinVar dbSNP
7g.150958255C>TCA16612197KCNH2n.1553G>A
c.720G>A (p.Pro240=)
c.372G>A (p.Pro124=)
n.943G>A
c.420G>A (p.Pro140=)
c.570G>A (p.Pro190=)
c.543G>A (p.Pro181=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958256G>ACA008703KCNH2n.1552C>T
c.719C>T (p.Pro240Leu)
c.371C>T (p.Pro124Leu)
n.942C>T
c.419C>T (p.Pro140Leu)
c.569C>T (p.Pro190Leu)
c.542C>T (p.Pro181Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958256G>CCA369862721KCNH2n.1552C>G
c.719C>G (p.Pro240Arg)
c.371C>G (p.Pro124Arg)
n.942C>G
c.419C>G (p.Pro140Arg)
c.569C>G (p.Pro190Arg)
c.542C>G (p.Pro181Arg)
7g.150958256G=CA1752418224KCNH2n.1552C=
c.719C= (p.Pro240=)
c.371C= (p.Pro124=)
n.942C=
c.419C= (p.Pro140=)
c.569C= (p.Pro190=)
c.542C= (p.Pro181=)
7g.150958256G>TCA369862719KCNH2n.1552C>A
c.719C>A (p.Pro240Gln)
c.371C>A (p.Pro124Gln)
n.942C>A
c.419C>A (p.Pro140Gln)
c.569C>A (p.Pro190Gln)
c.542C>A (p.Pro181Gln)
gnomAD v4
7g.150958257_150958261delCA2695208639KCNH2n.1548_1552del
c.715_719del (p.Ser239AlafsTer?)
c.367_371del (p.Ser123AlafsTer?)
n.938_942del
c.415_419del (p.Ser139AlafsTer?)
c.565_569del (p.Ser189AlafsTer?)
c.538_542del (p.Ser180AlafsTer?)
7g.150958257G>ACA369862726KCNH2n.1551C>T
c.718C>T (p.Pro240Ser)
c.370C>T (p.Pro124Ser)
n.941C>T
c.418C>T (p.Pro140Ser)
c.568C>T (p.Pro190Ser)
c.541C>T (p.Pro181Ser)
dbSNP gnomAD v4
7g.150958257G>CCA369862723KCNH2n.1551C>G
c.718C>G (p.Pro240Ala)
c.370C>G (p.Pro124Ala)
n.941C>G
c.418C>G (p.Pro140Ala)
c.568C>G (p.Pro190Ala)
c.541C>G (p.Pro181Ala)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958257G=CA1752418227KCNH2n.1551C=
c.718C= (p.Pro240=)
c.370C= (p.Pro124=)
n.941C=
c.418C= (p.Pro140=)
c.568C= (p.Pro190=)
c.541C= (p.Pro181=)
7g.150958257G>TCA369862725KCNH2n.1551C>A
c.718C>A (p.Pro240Thr)
c.370C>A (p.Pro124Thr)
n.941C>A
c.418C>A (p.Pro140Thr)
c.568C>A (p.Pro190Thr)
c.541C>A (p.Pro181Thr)
gnomAD v4
7g.150958258delCA2685607981KCNH2n.1550del
c.717del (p.Pro240ArgfsTer?)
c.369del (p.Pro124ArgfsTer?)
n.940del
c.417del (p.Pro140ArgfsTer?)
c.567del (p.Pro190ArgfsTer?)
c.540del (p.Pro181ArgfsTer?)
gnomAD v4
7g.150958258A>CCA458872186KCNH2n.1550T>G
c.717T>G (p.Ser239=)
c.369T>G (p.Ser123=)
n.940T>G
c.417T>G (p.Ser139=)
c.567T>G (p.Ser189=)
c.540T>G (p.Ser180=)
7g.150958258A>GCA458872193KCNH2n.1550T>C
c.717T>C (p.Ser239=)
c.369T>C (p.Ser123=)
n.940T>C
c.417T>C (p.Ser139=)
c.567T>C (p.Ser189=)
c.540T>C (p.Ser180=)
gnomAD v4
7g.150958258A>TCA458872195KCNH2n.1550T>A
c.717T>A (p.Ser239=)
c.369T>A (p.Ser123=)
n.940T>A
c.417T>A (p.Ser139=)
c.567T>A (p.Ser189=)
c.540T>A (p.Ser180=)
7g.150958259G>ACA369862729KCNH2n.1549C>T
c.716C>T (p.Ser239Phe)
c.368C>T (p.Ser123Phe)
n.939C>T
c.416C>T (p.Ser139Phe)
c.566C>T (p.Ser189Phe)
c.539C>T (p.Ser180Phe)
gnomAD v4
7g.150958259G>CCA369862730KCNH2n.1549C>G
c.716C>G (p.Ser239Cys)
c.368C>G (p.Ser123Cys)
n.939C>G
c.416C>G (p.Ser139Cys)
c.566C>G (p.Ser189Cys)
c.539C>G (p.Ser180Cys)
gnomAD v4
7g.150958259G=CA1752418230KCNH2n.1549C=
c.716C= (p.Ser239=)
c.368C= (p.Ser123=)
n.939C=
c.416C= (p.Ser139=)
c.566C= (p.Ser189=)
c.539C= (p.Ser180=)
7g.150958259G>TCA369862731KCNH2n.1549C>A
c.716C>A (p.Ser239Tyr)
c.368C>A (p.Ser123Tyr)
n.939C>A
c.416C>A (p.Ser139Tyr)
c.566C>A (p.Ser189Tyr)
c.539C>A (p.Ser180Tyr)
dbSNP gnomAD v2 gnomAD v4
7g.150958260A>CCA369862734KCNH2n.1548T>G
c.715T>G (p.Ser239Ala)
c.367T>G (p.Ser123Ala)
n.938T>G
c.415T>G (p.Ser139Ala)
c.565T>G (p.Ser189Ala)
c.538T>G (p.Ser180Ala)
7g.150958260A>GCA369862735KCNH2n.1548T>C
c.715T>C (p.Ser239Pro)
c.367T>C (p.Ser123Pro)
n.938T>C
c.415T>C (p.Ser139Pro)
c.565T>C (p.Ser189Pro)
c.538T>C (p.Ser180Pro)
gnomAD v4
7g.150958260A>TCA369862737KCNH2n.1548T>A
c.715T>A (p.Ser239Thr)
c.367T>A (p.Ser123Thr)
n.938T>A
c.415T>A (p.Ser139Thr)
c.565T>A (p.Ser189Thr)
c.538T>A (p.Ser180Thr)
7g.150958261G>ACA458872199KCNH2n.1547C>T
c.714C>T (p.Gly238=)
c.366C>T (p.Gly122=)
n.937C>T
c.414C>T (p.Gly138=)
c.564C>T (p.Gly188=)
c.537C>T (p.Gly179=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958261G>CCA458872200KCNH2n.1547C>G
c.714C>G (p.Gly238=)
c.366C>G (p.Gly122=)
n.937C>G
c.414C>G (p.Gly138=)
c.564C>G (p.Gly188=)
c.537C>G (p.Gly179=)
gnomAD v4
7g.150958261G=CA1752418233KCNH2n.1547C=
c.714C= (p.Gly238=)
c.366C= (p.Gly122=)
n.937C=
c.414C= (p.Gly138=)
c.564C= (p.Gly188=)
c.537C= (p.Gly179=)
7g.150958261G>TCA458872201KCNH2n.1547C>A
c.714C>A (p.Gly238=)
c.366C>A (p.Gly122=)
n.937C>A
c.414C>A (p.Gly138=)
c.564C>A (p.Gly188=)
c.537C>A (p.Gly179=)
gnomAD v4
7g.150958262C>ACA369862739KCNH2n.1546G>T
c.713G>T (p.Gly238Val)
c.365G>T (p.Gly122Val)
n.936G>T
c.413G>T (p.Gly138Val)
c.563G>T (p.Gly188Val)
c.536G>T (p.Gly179Val)
gnomAD v4
7g.150958262C=CA1752418236KCNH2n.1546G=
c.713G= (p.Gly238=)
c.365G= (p.Gly122=)
n.936G=
c.413G= (p.Gly138=)
c.563G= (p.Gly188=)
c.536G= (p.Gly179=)
7g.150958262C>GCA369862741KCNH2n.1546G>C
c.713G>C (p.Gly238Ala)
c.365G>C (p.Gly122Ala)
n.936G>C
c.413G>C (p.Gly138Ala)
c.563G>C (p.Gly188Ala)
c.536G>C (p.Gly179Ala)
7g.150958262C>TCA169081297KCNH2n.1546G>A
c.713G>A (p.Gly238Asp)
c.365G>A (p.Gly122Asp)
n.936G>A
c.413G>A (p.Gly138Asp)
c.563G>A (p.Gly188Asp)
c.536G>A (p.Gly179Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958263C>ACA369862746KCNH2n.1545G>T
c.712G>T (p.Gly238Cys)
c.364G>T (p.Gly122Cys)
n.935G>T
c.412G>T (p.Gly138Cys)
c.562G>T (p.Gly188Cys)
c.535G>T (p.Gly179Cys)
ClinVar dbSNP gnomAD v4
7g.150958263C=CA1752418240KCNH2n.1545G=
c.712G= (p.Gly238=)
c.364G= (p.Gly122=)
n.935G=
c.412G= (p.Gly138=)
c.562G= (p.Gly188=)
c.535G= (p.Gly179=)
7g.150958263C>GCA369862744KCNH2n.1545G>C
c.712G>C (p.Gly238Arg)
c.364G>C (p.Gly122Arg)
n.935G>C
c.412G>C (p.Gly138Arg)
c.562G>C (p.Gly188Arg)
c.535G>C (p.Gly179Arg)
gnomAD v4
7g.150958263C>TCA008696KCNH2n.1545G>A
c.712G>A (p.Gly238Ser)
c.364G>A (p.Gly122Ser)
n.935G>A
c.412G>A (p.Gly138Ser)
c.562G>A (p.Gly188Ser)
c.535G>A (p.Gly179Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958264G>ACA040273KCNH2n.1544C>T
c.711C>T (p.Pro237=)
c.363C>T (p.Pro121=)
n.934C>T
c.411C>T (p.Pro137=)
c.561C>T (p.Pro187=)
c.534C>T (p.Pro178=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150958264G>CCA458872203KCNH2n.1544C>G
c.711C>G (p.Pro237=)
c.363C>G (p.Pro121=)
n.934C>G
c.411C>G (p.Pro137=)
c.561C>G (p.Pro187=)
c.534C>G (p.Pro178=)
ClinVar dbSNP gnomAD v4
7g.150958264G=CA1752418243KCNH2n.1544C=
c.711C= (p.Pro237=)
c.363C= (p.Pro121=)
n.934C=
c.411C= (p.Pro137=)
c.561C= (p.Pro187=)
c.534C= (p.Pro178=)
7g.150958264G>TCA458872205KCNH2n.1544C>A
c.711C>A (p.Pro237=)
c.363C>A (p.Pro121=)
n.934C>A
c.411C>A (p.Pro137=)
c.561C>A (p.Pro187=)
c.534C>A (p.Pro178=)
gnomAD v4
7g.150958266delCA2685608021KCNH2n.1544del
c.711del (p.Gly238AlafsTer?)
c.363del (p.Gly122AlafsTer?)
n.934del
c.411del (p.Gly138AlafsTer?)
c.561del (p.Gly188AlafsTer?)
c.534del (p.Gly179AlafsTer?)
gnomAD v4
7g.150958265_150958266delCA2685608028KCNH2n.1543_1544del
c.710_711del (p.Pro237ArgfsTer?)
c.362_363del (p.Pro121ArgfsTer?)
n.933_934del
c.410_411del (p.Pro137ArgfsTer?)
c.560_561del (p.Pro187ArgfsTer?)
c.533_534del (p.Pro178ArgfsTer?)
gnomAD v4
7g.150958265G>ACA369862749KCNH2n.1543C>T
c.710C>T (p.Pro237Leu)
c.362C>T (p.Pro121Leu)
n.933C>T
c.410C>T (p.Pro137Leu)
c.560C>T (p.Pro187Leu)
c.533C>T (p.Pro178Leu)
gnomAD v4
7g.150958265G>CCA369862751KCNH2n.1543C>G
c.710C>G (p.Pro237Arg)
c.362C>G (p.Pro121Arg)
n.933C>G
c.410C>G (p.Pro137Arg)
c.560C>G (p.Pro187Arg)
c.533C>G (p.Pro178Arg)
7g.150958265G=CA1752418246KCNH2n.1543C=
c.710C= (p.Pro237=)
c.362C= (p.Pro121=)
n.933C=
c.410C= (p.Pro137=)
c.560C= (p.Pro187=)
c.533C= (p.Pro178=)
7g.150958265G>TCA369862753KCNH2n.1543C>A
c.710C>A (p.Pro237His)
c.362C>A (p.Pro121His)
n.933C>A
c.410C>A (p.Pro137His)
c.560C>A (p.Pro187His)
c.533C>A (p.Pro178His)
ClinVar dbSNP gnomAD v4
7g.150958266G>ACA369862754KCNH2n.1542C>T
c.709C>T (p.Pro237Ser)
c.361C>T (p.Pro121Ser)
n.932C>T
c.409C>T (p.Pro137Ser)
c.559C>T (p.Pro187Ser)
c.532C>T (p.Pro178Ser)
gnomAD v4
7g.150958266G>CCA369862756KCNH2n.1542C>G
c.709C>G (p.Pro237Ala)
c.361C>G (p.Pro121Ala)
n.932C>G
c.409C>G (p.Pro137Ala)
c.559C>G (p.Pro187Ala)
c.532C>G (p.Pro178Ala)
gnomAD v4
7g.150958266G>TCA369862758KCNH2n.1542C>A
c.709C>A (p.Pro237Thr)
c.361C>A (p.Pro121Thr)
n.932C>A
c.409C>A (p.Pro137Thr)
c.559C>A (p.Pro187Thr)
c.532C>A (p.Pro178Thr)
gnomAD v4
7g.150958266_150958268delinsGACCA1752418249KCNH2n.1540_1542delinsGTC
c.707_709delinsGTC (p.Gly236=)
c.359_361delinsGTC (p.Gly120=)
n.930_932delinsGTC
c.407_409delinsGTC (p.Gly136=)
c.557_559delinsGTC (p.Gly186=)
c.530_532delinsGTC (p.Gly177=)
7g.150958267A>CCA458872210KCNH2n.1541T>G
c.708T>G (p.Gly236=)
c.360T>G (p.Gly120=)
n.931T>G
c.408T>G (p.Gly136=)
c.558T>G (p.Gly186=)
c.531T>G (p.Gly177=)
gnomAD v4
7g.150958267A>GCA458872212KCNH2n.1541T>C
c.708T>C (p.Gly236=)
c.360T>C (p.Gly120=)
n.931T>C
c.408T>C (p.Gly136=)
c.558T>C (p.Gly186=)
c.531T>C (p.Gly177=)
gnomAD v4
7g.150958267A>TCA458872211KCNH2n.1541T>A
c.708T>A (p.Gly236=)
c.360T>A (p.Gly120=)
n.931T>A
c.408T>A (p.Gly136=)
c.558T>A (p.Gly186=)
c.531T>A (p.Gly177=)
7g.150958267_150958268delCA1139660322KCNH2n.1540_1541del
c.707_708del (p.Gly236AlafsTer?)
c.359_360del (p.Gly120AlafsTer?)
n.930_931del
c.407_408del (p.Gly136AlafsTer?)
c.557_558del (p.Gly186AlafsTer?)
c.530_531del (p.Gly177AlafsTer?)
ClinVar dbSNP
7g.150958268C>ACA008689KCNH2n.1540G>T
c.707G>T (p.Gly236Val)
c.359G>T (p.Gly120Val)
n.930G>T
c.407G>T (p.Gly136Val)
c.557G>T (p.Gly186Val)
c.530G>T (p.Gly177Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150958268C=CA1752418260KCNH2n.1540G=
c.707G= (p.Gly236=)
c.359G= (p.Gly120=)
n.930G=
c.407G= (p.Gly136=)
c.557G= (p.Gly186=)
c.530G= (p.Gly177=)
7g.150958268C>GCA369862761KCNH2n.1540G>C
c.707G>C (p.Gly236Ala)
c.359G>C (p.Gly120Ala)
n.930G>C
c.407G>C (p.Gly136Ala)
c.557G>C (p.Gly186Ala)
c.530G>C (p.Gly177Ala)
7g.150958268C>TCA369862763KCNH2n.1540G>A
c.707G>A (p.Gly236Asp)
c.359G>A (p.Gly120Asp)
n.930G>A
c.407G>A (p.Gly136Asp)
c.557G>A (p.Gly186Asp)
c.530G>A (p.Gly177Asp)
ClinVar dbSNP gnomAD v4
7g.150958270delCA2579062963KCNH2n.1540del
c.707del (p.Gly236ValfsTer?)
c.359del (p.Gly120ValfsTer?)
n.930del
c.407del (p.Gly136ValfsTer?)
c.557del (p.Gly186ValfsTer?)
c.530del (p.Gly177ValfsTer?)
gnomAD v4
7g.150958269C>ACA369862765KCNH2n.1539G>T
c.706G>T (p.Gly236Cys)
c.358G>T (p.Gly120Cys)
n.929G>T
c.406G>T (p.Gly136Cys)
c.556G>T (p.Gly186Cys)
c.529G>T (p.Gly177Cys)
gnomAD v4
7g.150958269C>GCA369862767KCNH2n.1539G>C
c.706G>C (p.Gly236Arg)
c.358G>C (p.Gly120Arg)
n.929G>C
c.406G>C (p.Gly136Arg)
c.556G>C (p.Gly186Arg)
c.529G>C (p.Gly177Arg)
7g.150958269C>TCA369862769KCNH2n.1539G>A
c.706G>A (p.Gly236Ser)
c.358G>A (p.Gly120Ser)
n.929G>A
c.406G>A (p.Gly136Ser)
c.556G>A (p.Gly186Ser)
c.529G>A (p.Gly177Ser)
gnomAD v4
7g.150958270C>ACA458872216KCNH2n.1538G>T
c.705G>T (p.Val235=)
c.357G>T (p.Val119=)
n.928G>T
c.405G>T (p.Val135=)
c.555G>T (p.Val185=)
c.528G>T (p.Val176=)
gnomAD v4
7g.150958270C=CA1752418262KCNH2n.1538G=
c.705G= (p.Val235=)
c.357G= (p.Val119=)
n.928G=
c.405G= (p.Val135=)
c.555G= (p.Val185=)
c.528G= (p.Val176=)
7g.150958270C>GCA458872217KCNH2n.1538G>C
c.705G>C (p.Val235=)
c.357G>C (p.Val119=)
n.928G>C
c.405G>C (p.Val135=)
c.555G>C (p.Val185=)
c.528G>C (p.Val176=)
7g.150958270C>TCA458872220KCNH2n.1538G>A
c.705G>A (p.Val235=)
c.357G>A (p.Val119=)
n.928G>A
c.405G>A (p.Val135=)
c.555G>A (p.Val185=)
c.528G>A (p.Val176=)
dbSNP gnomAD v4
7g.150958271A=CA1752418266KCNH2n.1537T=
c.704T= (p.Val235=)
c.356T= (p.Val119=)
n.927T=
c.404T= (p.Val135=)
c.554T= (p.Val185=)
c.527T= (p.Val176=)
7g.150958271A>CCA369862772KCNH2n.1537T>G
c.704T>G (p.Val235Gly)
c.356T>G (p.Val119Gly)
n.927T>G
c.404T>G (p.Val135Gly)
c.554T>G (p.Val185Gly)
c.527T>G (p.Val176Gly)
7g.150958271A>GCA369862774KCNH2n.1537T>C
c.704T>C (p.Val235Ala)
c.356T>C (p.Val119Ala)
n.927T>C
c.404T>C (p.Val135Ala)
c.554T>C (p.Val185Ala)
c.527T>C (p.Val176Ala)
ClinVar dbSNP gnomAD v4
7g.150958271A>TCA369862771KCNH2n.1537T>A
c.704T>A (p.Val235Glu)
c.356T>A (p.Val119Glu)
n.927T>A
c.404T>A (p.Val135Glu)
c.554T>A (p.Val185Glu)
c.527T>A (p.Val176Glu)
7g.150958272C>ACA369862776KCNH2n.1536G>T
c.703G>T (p.Val235Leu)
c.355G>T (p.Val119Leu)
n.926G>T
c.403G>T (p.Val135Leu)
c.553G>T (p.Val185Leu)
c.526G>T (p.Val176Leu)
gnomAD v4
7g.150958272C>GCA072022KCNH2n.1536G>C
c.703G>C (p.Val235Leu)
c.355G>C (p.Val119Leu)
n.926G>C
c.403G>C (p.Val135Leu)
c.553G>C (p.Val185Leu)
c.526G>C (p.Val176Leu)
7g.150958272C>TCA369862778KCNH2n.1536G>A
c.703G>A (p.Val235Met)
c.355G>A (p.Val119Met)
n.926G>A
c.403G>A (p.Val135Met)
c.553G>A (p.Val185Met)
c.526G>A (p.Val176Met)
gnomAD v4
7g.150958273delCA2685608085KCNH2n.1536del
c.703del (p.Val235TrpfsTer?)
c.355del (p.Val119TrpfsTer?)
n.926del
c.403del (p.Val135TrpfsTer?)
c.553del (p.Val185TrpfsTer?)
c.526del (p.Val176TrpfsTer?)
gnomAD v4
7g.150958273C>ACA458872228KCNH2n.1535G>T
c.702G>T (p.Leu234=)
c.354G>T (p.Leu118=)
n.925G>T
c.402G>T (p.Leu134=)
c.552G>T (p.Leu184=)
c.525G>T (p.Leu175=)
gnomAD v4
7g.150958273C=CA1752418269KCNH2n.1535G=
c.702G= (p.Leu234=)
c.354G= (p.Leu118=)
n.925G=
c.402G= (p.Leu134=)
c.552G= (p.Leu184=)
c.525G= (p.Leu175=)
7g.150958273C>GCA169081306KCNH2n.1535G>C
c.702G>C (p.Leu234=)
c.354G>C (p.Leu118=)
n.925G>C
c.402G>C (p.Leu134=)
c.552G>C (p.Leu184=)
c.525G>C (p.Leu175=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958273C>TCA458872229KCNH2n.1535G>A
c.702G>A (p.Leu234=)
c.354G>A (p.Leu118=)
n.925G>A
c.402G>A (p.Leu134=)
c.552G>A (p.Leu184=)
c.525G>A (p.Leu175=)
gnomAD v4
7g.150958274A>CCA369862780KCNH2n.1534T>G
c.701T>G (p.Leu234Arg)
c.353T>G (p.Leu118Arg)
n.924T>G
c.401T>G (p.Leu134Arg)
c.551T>G (p.Leu184Arg)
c.524T>G (p.Leu175Arg)
7g.150958274A>GCA369862782KCNH2n.1534T>C
c.701T>C (p.Leu234Pro)
c.353T>C (p.Leu118Pro)
n.924T>C
c.401T>C (p.Leu134Pro)
c.551T>C (p.Leu184Pro)
c.524T>C (p.Leu175Pro)
gnomAD v4
7g.150958274A>TCA369862784KCNH2n.1534T>A
c.701T>A (p.Leu234Gln)
c.353T>A (p.Leu118Gln)
n.924T>A
c.401T>A (p.Leu134Gln)
c.551T>A (p.Leu184Gln)
c.524T>A (p.Leu175Gln)
7g.150958275G>ACA458872231KCNH2n.1533C>T
c.700C>T (p.Leu234=)
c.352C>T (p.Leu118=)
n.923C>T
c.400C>T (p.Leu134=)
c.550C>T (p.Leu184=)
c.523C>T (p.Leu175=)
ClinVar dbSNP gnomAD v4
7g.150958275G>CCA369862786KCNH2n.1533C>G
c.700C>G (p.Leu234Val)
c.352C>G (p.Leu118Val)
n.923C>G
c.400C>G (p.Leu134Val)
c.550C>G (p.Leu184Val)
c.523C>G (p.Leu175Val)
7g.150958275G=CA1752418273KCNH2n.1533C=
c.700C= (p.Leu234=)
c.352C= (p.Leu118=)
n.923C=
c.400C= (p.Leu134=)
c.550C= (p.Leu184=)
c.523C= (p.Leu175=)
7g.150958275G>TCA369862788KCNH2n.1533C>A
c.700C>A (p.Leu234Met)
c.352C>A (p.Leu118Met)
n.923C>A
c.400C>A (p.Leu134Met)
c.550C>A (p.Leu184Met)
c.523C>A (p.Leu175Met)
gnomAD v4
7g.150958277_150958278delCA071898KCNH2n.1532_1533del
c.699_700del (p.Leu234GlyfsTer?)
c.351_352del (p.Leu118GlyfsTer?)
n.922_923del
c.399_400del (p.Leu134GlyfsTer?)
c.549_550del (p.Leu184GlyfsTer?)
c.522_523del (p.Leu175GlyfsTer?)
7g.150958277_150958282delCA2499218807KCNH2n.1528_1533del
c.695_700del (p.Arg232_Ala233del)
c.347_352del (p.Arg116_Ala117del)
n.918_923del
c.395_400del (p.Arg132_Ala133del)
c.545_550del (p.Arg182_Ala183del)
c.518_523del (p.Arg173_Ala174del)
ClinVar dbSNP
7g.150958276C>ACA458872232KCNH2n.1532G>T
c.699G>T (p.Ala233=)
c.351G>T (p.Ala117=)
n.922G>T
c.399G>T (p.Ala133=)
c.549G>T (p.Ala183=)
c.522G>T (p.Ala174=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958276C=CA1752418277KCNH2n.1532G=
c.699G= (p.Ala233=)
c.351G= (p.Ala117=)
n.922G=
c.399G= (p.Ala133=)
c.549G= (p.Ala183=)
c.522G= (p.Ala174=)
7g.150958276C>GCA458872233KCNH2n.1532G>C
c.699G>C (p.Ala233=)
c.351G>C (p.Ala117=)
n.922G>C
c.399G>C (p.Ala133=)
c.549G>C (p.Ala183=)
c.522G>C (p.Ala174=)
7g.150958276C>TCA458872234KCNH2n.1532G>A
c.699G>A (p.Ala233=)
c.351G>A (p.Ala117=)
n.922G>A
c.399G>A (p.Ala133=)
c.549G>A (p.Ala183=)
c.522G>A (p.Ala174=)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958277G>ACA369862789KCNH2n.1531C>T
c.698C>T (p.Ala233Val)
c.350C>T (p.Ala117Val)
n.921C>T
c.398C>T (p.Ala133Val)
c.548C>T (p.Ala183Val)
c.521C>T (p.Ala174Val)
gnomAD v4
7g.150958277G>CCA369862791KCNH2n.1531C>G
c.698C>G (p.Ala233Gly)
c.350C>G (p.Ala117Gly)
n.921C>G
c.398C>G (p.Ala133Gly)
c.548C>G (p.Ala183Gly)
c.521C>G (p.Ala174Gly)
gnomAD v4
7g.150958277G>TCA369862793KCNH2n.1531C>A
c.698C>A (p.Ala233Glu)
c.350C>A (p.Ala117Glu)
n.921C>A
c.398C>A (p.Ala133Glu)
c.548C>A (p.Ala183Glu)
c.521C>A (p.Ala174Glu)
gnomAD v4
7g.150958278C>ACA040247KCNH2n.1530G>T
c.697G>T (p.Ala233Ser)
c.349G>T (p.Ala117Ser)
n.920G>T
c.397G>T (p.Ala133Ser)
c.547G>T (p.Ala183Ser)
c.520G>T (p.Ala174Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150958278C=CA1752418284KCNH2n.1530G=
c.697G= (p.Ala233=)
c.349G= (p.Ala117=)
n.920G=
c.397G= (p.Ala133=)
c.547G= (p.Ala183=)
c.520G= (p.Ala174=)
7g.150958278C>GCA369862796KCNH2n.1530G>C
c.697G>C (p.Ala233Pro)
c.349G>C (p.Ala117Pro)
n.920G>C
c.397G>C (p.Ala133Pro)
c.547G>C (p.Ala183Pro)
c.520G>C (p.Ala174Pro)
gnomAD v4
7g.150958278C>TCA369862798KCNH2n.1530G>A
c.697G>A (p.Ala233Thr)
c.349G>A (p.Ala117Thr)
n.920G>A
c.397G>A (p.Ala133Thr)
c.547G>A (p.Ala183Thr)
c.520G>A (p.Ala174Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958279A=CA1752418291KCNH2n.1529T=
c.696T= (p.Arg232=)
c.348T= (p.Arg116=)
n.919T=
c.396T= (p.Arg132=)
c.546T= (p.Arg182=)
c.519T= (p.Arg173=)
7g.150958279A>CCA458872240KCNH2n.1529T>G
c.696T>G (p.Arg232=)
c.348T>G (p.Arg116=)
n.919T>G
c.396T>G (p.Arg132=)
c.546T>G (p.Arg182=)
c.519T>G (p.Arg173=)
7g.150958279A>GCA169081312KCNH2n.1529T>C
c.696T>C (p.Arg232=)
c.348T>C (p.Arg116=)
n.919T>C
c.396T>C (p.Arg132=)
c.546T>C (p.Arg182=)
c.519T>C (p.Arg173=)
dbSNP gnomAD v4
7g.150958279A>TCA458872242KCNH2n.1529T>A
c.696T>A (p.Arg232=)
c.348T>A (p.Arg116=)
n.919T>A
c.396T>A (p.Arg132=)
c.546T>A (p.Arg182=)
c.519T>A (p.Arg173=)
7g.150958280C>ACA10587638KCNH2n.1528G>T
c.695G>T (p.Arg232Leu)
c.347G>T (p.Arg116Leu)
n.918G>T
c.395G>T (p.Arg132Leu)
c.545G>T (p.Arg182Leu)
c.518G>T (p.Arg173Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958280C=CA1752418296KCNH2n.1528G=
c.695G= (p.Arg232=)
c.347G= (p.Arg116=)
n.918G=
c.395G= (p.Arg132=)
c.545G= (p.Arg182=)
c.518G= (p.Arg173=)
7g.150958280C>GCA169081316KCNH2n.1528G>C
c.695G>C (p.Arg232Pro)
c.347G>C (p.Arg116Pro)
n.918G>C
c.395G>C (p.Arg132Pro)
c.545G>C (p.Arg182Pro)
c.518G>C (p.Arg173Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958280C>TCA369862800KCNH2n.1528G>A
c.695G>A (p.Arg232His)
c.347G>A (p.Arg116His)
n.918G>A
c.395G>A (p.Arg132His)
c.545G>A (p.Arg182His)
c.518G>A (p.Arg173His)
gnomAD v4
7g.150958281G>ACA169081320KCNH2n.1527C>T
c.694C>T (p.Arg232Cys)
c.346C>T (p.Arg116Cys)
n.917C>T
c.394C>T (p.Arg132Cys)
c.544C>T (p.Arg182Cys)
c.517C>T (p.Arg173Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958281G>CCA369862805KCNH2n.1527C>G
c.694C>G (p.Arg232Gly)
c.346C>G (p.Arg116Gly)
n.917C>G
c.394C>G (p.Arg132Gly)
c.544C>G (p.Arg182Gly)
c.517C>G (p.Arg173Gly)
gnomAD v4
7g.150958281G=CA1752418302KCNH2n.1527C=
c.694C= (p.Arg232=)
c.346C= (p.Arg116=)
n.917C=
c.394C= (p.Arg132=)
c.544C= (p.Arg182=)
c.517C= (p.Arg173=)
7g.150958281G>TCA369862806KCNH2n.1527C>A
c.694C>A (p.Arg232Ser)
c.346C>A (p.Arg116Ser)
n.917C>A
c.394C>A (p.Arg132Ser)
c.544C>A (p.Arg182Ser)
c.517C>A (p.Arg173Ser)
gnomAD v4
7g.150958282C>ACA458872262KCNH2n.1526G>T
c.693G>T (p.Arg231=)
c.345G>T (p.Arg115=)
n.916G>T
c.393G>T (p.Arg131=)
c.543G>T (p.Arg181=)
c.516G>T (p.Arg172=)
gnomAD v4
7g.150958282C=CA1752418307KCNH2n.1526G=
c.693G= (p.Arg231=)
c.345G= (p.Arg115=)
n.916G=
c.393G= (p.Arg131=)
c.543G= (p.Arg181=)
c.516G= (p.Arg172=)
7g.150958282C>GCA458872256KCNH2n.1526G>C
c.693G>C (p.Arg231=)
c.345G>C (p.Arg115=)
n.916G>C
c.393G>C (p.Arg131=)
c.543G>C (p.Arg181=)
c.516G>C (p.Arg172=)
dbSNP
7g.150958282C>TCA458872258KCNH2n.1526G>A
c.693G>A (p.Arg231=)
c.345G>A (p.Arg115=)
n.916G>A
c.393G>A (p.Arg131=)
c.543G>A (p.Arg181=)
c.516G>A (p.Arg172=)
gnomAD v4
7g.150958283dupCA2685608114KCNH2n.1526dup
c.693dup (p.Arg232AlafsTer?)
c.345dup (p.Arg116AlafsTer?)
n.916dup
c.393dup (p.Arg132AlafsTer?)
c.543dup (p.Arg182AlafsTer?)
c.516dup (p.Arg173AlafsTer?)
gnomAD v4
7g.150958283C>ACA369862808KCNH2n.1525G>T
c.692G>T (p.Arg231Leu)
c.344G>T (p.Arg115Leu)
n.915G>T
c.392G>T (p.Arg131Leu)
c.542G>T (p.Arg181Leu)
c.515G>T (p.Arg172Leu)
ClinVar gnomAD v4
7g.150958283C=CA1752418310KCNH2n.1525G=
c.692G= (p.Arg231=)
c.344G= (p.Arg115=)
n.915G=
c.392G= (p.Arg131=)
c.542G= (p.Arg181=)
c.515G= (p.Arg172=)
7g.150958283C>GCA369862810KCNH2n.1525G>C
c.692G>C (p.Arg231Pro)
c.344G>C (p.Arg115Pro)
n.915G>C
c.392G>C (p.Arg131Pro)
c.542G>C (p.Arg181Pro)
c.515G>C (p.Arg172Pro)
7g.150958283C>TCA369862812KCNH2n.1525G>A
c.692G>A (p.Arg231Gln)
c.344G>A (p.Arg115Gln)
n.915G>A
c.392G>A (p.Arg131Gln)
c.542G>A (p.Arg181Gln)
c.515G>A (p.Arg172Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150958284G>ACA369862814KCNH2n.1524C>T
c.691C>T (p.Arg231Trp)
c.343C>T (p.Arg115Trp)
n.914C>T
c.391C>T (p.Arg131Trp)
c.541C>T (p.Arg181Trp)
c.514C>T (p.Arg172Trp)
dbSNP gnomAD v2 gnomAD v4
7g.150958284G>CCA369862816KCNH2n.1524C>G
c.691C>G (p.Arg231Gly)
c.343C>G (p.Arg115Gly)
n.914C>G
c.391C>G (p.Arg131Gly)
c.541C>G (p.Arg181Gly)
c.514C>G (p.Arg172Gly)
7g.150958284G=CA1752418317KCNH2n.1524C=
c.691C= (p.Arg231=)
c.343C= (p.Arg115=)
n.914C=
c.391C= (p.Arg131=)
c.541C= (p.Arg181=)
c.514C= (p.Arg172=)
7g.150958284G>TCA458872268KCNH2n.1524C>A
c.691C>A (p.Arg231=)
c.343C>A (p.Arg115=)
n.914C>A
c.391C>A (p.Arg131=)
c.541C>A (p.Arg181=)
c.514C>A (p.Arg172=)
gnomAD v4
7g.150958284_150958285delinsAACA916080380KCNH2n.1523_1524delinsTT
c.690_691delinsTT (p.Glu230_Arg231delinsAspTrp)
c.342_343delinsTT (p.Glu114_Arg115delinsAspTrp)
n.913_914delinsTT
c.390_391delinsTT (p.Glu130_Arg131delinsAspTrp)
c.540_541delinsTT (p.Glu180_Arg181delinsAspTrp)
c.513_514delinsTT (p.Glu171_Arg172delinsAspTrp)
ClinVar dbSNP
7g.150958284_150958285delinsGCCA1752418315KCNH2n.1523_1524delinsGC
c.690_691delinsGC (p.Glu230=)
c.342_343delinsGC (p.Glu114=)
n.913_914delinsGC
c.390_391delinsGC (p.Glu130=)
c.540_541delinsGC (p.Glu180=)
c.513_514delinsGC (p.Glu171=)
7g.150958285C>ACA071891KCNH2n.1523G>T
c.690G>T (p.Glu230Asp)
c.342G>T (p.Glu114Asp)
n.913G>T
c.390G>T (p.Glu130Asp)
c.540G>T (p.Glu180Asp)
c.513G>T (p.Glu171Asp)
dbSNP gnomAD v2 gnomAD v4
7g.150958285C=CA1752418320KCNH2n.1523G=
c.690G= (p.Glu230=)
c.342G= (p.Glu114=)
n.913G=
c.390G= (p.Glu130=)
c.540G= (p.Glu180=)
c.513G= (p.Glu171=)
7g.150958285C>GCA369862818KCNH2n.1523G>C
c.690G>C (p.Glu230Asp)
c.342G>C (p.Glu114Asp)
n.913G>C
c.390G>C (p.Glu130Asp)
c.540G>C (p.Glu180Asp)
c.513G>C (p.Glu171Asp)
7g.150958285C>TCA040234KCNH2n.1523G>A
c.690G>A (p.Glu230=)
c.342G>A (p.Glu114=)
n.913G>A
c.390G>A (p.Glu130=)
c.540G>A (p.Glu180=)
c.513G>A (p.Glu171=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150958286T>ACA369862821KCNH2n.1522A>T
c.689A>T (p.Glu230Val)
c.341A>T (p.Glu114Val)
n.912A>T
c.389A>T (p.Glu130Val)
c.539A>T (p.Glu180Val)
c.512A>T (p.Glu171Val)
gnomAD v4
7g.150958286T>CCA369862823KCNH2n.1522A>G
c.689A>G (p.Glu230Gly)
c.341A>G (p.Glu114Gly)
n.912A>G
c.389A>G (p.Glu130Gly)
c.539A>G (p.Glu180Gly)
c.512A>G (p.Glu171Gly)
gnomAD v4
7g.150958286T>GCA369862824KCNH2n.1522A>C
c.689A>C (p.Glu230Ala)
c.341A>C (p.Glu114Ala)
n.912A>C
c.389A>C (p.Glu130Ala)
c.539A>C (p.Glu180Ala)
c.512A>C (p.Glu171Ala)
7g.150958287C>ACA369862828KCNH2n.1521G>T
c.688G>T (p.Glu230Ter)
c.340G>T (p.Glu114Ter)
n.911G>T
c.388G>T (p.Glu130Ter)
c.538G>T (p.Glu180Ter)
c.511G>T (p.Glu171Ter)
ClinVar gnomAD v4
7g.150958287C>GCA369862830KCNH2n.1521G>C
c.688G>C (p.Glu230Gln)
c.340G>C (p.Glu114Gln)
n.911G>C
c.388G>C (p.Glu130Gln)
c.538G>C (p.Glu180Gln)
c.511G>C (p.Glu171Gln)
7g.150958287C>TCA369862826KCNH2n.1521G>A
c.688G>A (p.Glu230Lys)
c.340G>A (p.Glu114Lys)
n.911G>A
c.388G>A (p.Glu130Lys)
c.538G>A (p.Glu180Lys)
c.511G>A (p.Glu171Lys)
gnomAD v4
7g.150958288C>ACA369862831KCNH2n.1520G>T
c.687G>T (p.Glu229Asp)
c.339G>T (p.Glu113Asp)
n.910G>T
c.387G>T (p.Glu129Asp)
c.537G>T (p.Glu179Asp)
c.510G>T (p.Glu170Asp)
ClinVar gnomAD v4
7g.150958288C=CA1752418325KCNH2n.1520G=
c.687G= (p.Glu229=)
c.339G= (p.Glu113=)
n.910G=
c.387G= (p.Glu129=)
c.537G= (p.Glu179=)
c.510G= (p.Glu170=)
7g.150958288C>GCA369862832KCNH2n.1520G>C
c.687G>C (p.Glu229Asp)
c.339G>C (p.Glu113Asp)
n.910G>C
c.387G>C (p.Glu129Asp)
c.537G>C (p.Glu179Asp)
c.510G>C (p.Glu170Asp)
7g.150958288C>TCA071997KCNH2n.1520G>A
c.687G>A (p.Glu229=)
c.339G>A (p.Glu113=)
n.910G>A
c.387G>A (p.Glu129=)
c.537G>A (p.Glu179=)
c.510G>A (p.Glu170=)
ClinVar dbSNP gnomAD v4
7g.150958289T>ACA369862834KCNH2n.1519A>T
c.686A>T (p.Glu229Val)
c.338A>T (p.Glu113Val)
n.909A>T
c.386A>T (p.Glu129Val)
c.536A>T (p.Glu179Val)
c.509A>T (p.Glu170Val)
7g.150958289T>CCA071886KCNH2n.1519A>G
c.686A>G (p.Glu229Gly)
c.338A>G (p.Glu113Gly)
n.909A>G
c.386A>G (p.Glu129Gly)
c.536A>G (p.Glu179Gly)
c.509A>G (p.Glu170Gly)
gnomAD v4
7g.150958289T>GCA369862836KCNH2n.1519A>C
c.686A>C (p.Glu229Ala)
c.338A>C (p.Glu113Ala)
n.909A>C
c.386A>C (p.Glu129Ala)
c.536A>C (p.Glu179Ala)
c.509A>C (p.Glu170Ala)
7g.150958290C>ACA008681KCNH2n.1518G>T
c.685G>T (p.Glu229Ter)
c.337G>T (p.Glu113Ter)
n.908G>T
c.385G>T (p.Glu129Ter)
c.535G>T (p.Glu179Ter)
c.508G>T (p.Glu170Ter)
ClinVar dbSNP gnomAD v4
7g.150958290C=CA1752418328KCNH2n.1518G=
c.685G= (p.Glu229=)
c.337G= (p.Glu113=)
n.908G=
c.385G= (p.Glu129=)
c.535G= (p.Glu179=)
c.508G= (p.Glu170=)
7g.150958290C>GCA369862841KCNH2n.1518G>C
c.685G>C (p.Glu229Gln)
c.337G>C (p.Glu113Gln)
n.908G>C
c.385G>C (p.Glu129Gln)
c.535G>C (p.Glu179Gln)
c.508G>C (p.Glu170Gln)
7g.150958290C>TCA369862839KCNH2n.1518G>A
c.685G>A (p.Glu229Lys)
c.337G>A (p.Glu113Lys)
n.908G>A
c.385G>A (p.Glu129Lys)
c.535G>A (p.Glu179Lys)
c.508G>A (p.Glu170Lys)
ClinVar dbSNP gnomAD v4
7g.150958298_150958372delCA2685608128KCNH2n.1444_1518del
c.611_685del (p.Ala204_Ala228del)
c.263_337del (p.Ala88_Ala112del)
n.834_908del
c.311_385del (p.Ala104_Ala128del)
c.461_535del (p.Ala154_Ala178del)
c.434_508del (p.Ala145_Ala169del)
gnomAD v4
7g.150958291C>ACA458872292KCNH2n.1517G>T
c.684G>T (p.Ala228=)
c.336G>T (p.Ala112=)
n.907G>T
c.384G>T (p.Ala128=)
c.534G>T (p.Ala178=)
c.507G>T (p.Ala169=)
dbSNP gnomAD v2 gnomAD v4
7g.150958291C=CA1752418333KCNH2n.1517G=
c.684G= (p.Ala228=)
c.336G= (p.Ala112=)
n.907G=
c.384G= (p.Ala128=)
c.534G= (p.Ala178=)
c.507G= (p.Ala169=)
7g.150958291C>GCA458872293KCNH2n.1517G>C
c.684G>C (p.Ala228=)
c.336G>C (p.Ala112=)
n.907G>C
c.384G>C (p.Ala128=)
c.534G>C (p.Ala178=)
c.507G>C (p.Ala169=)
ClinVar dbSNP gnomAD v4
7g.150958291C>TCA458872294KCNH2n.1517G>A
c.684G>A (p.Ala228=)
c.336G>A (p.Ala112=)
n.907G>A
c.384G>A (p.Ala128=)
c.534G>A (p.Ala178=)
c.507G>A (p.Ala169=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958292G>ACA369862842KCNH2n.1516C>T
c.683C>T (p.Ala228Val)
c.335C>T (p.Ala112Val)
n.906C>T
c.383C>T (p.Ala128Val)
c.533C>T (p.Ala178Val)
c.506C>T (p.Ala169Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958292G>CCA369862846KCNH2n.1516C>G
c.683C>G (p.Ala228Gly)
c.335C>G (p.Ala112Gly)
n.906C>G
c.383C>G (p.Ala128Gly)
c.533C>G (p.Ala178Gly)
c.506C>G (p.Ala169Gly)
7g.150958292G=CA1752418338KCNH2n.1516C=
c.683C= (p.Ala228=)
c.335C= (p.Ala112=)
n.906C=
c.383C= (p.Ala128=)
c.533C= (p.Ala178=)
c.506C= (p.Ala169=)
7g.150958292G>TCA369862844KCNH2n.1516C>A
c.683C>A (p.Ala228Glu)
c.335C>A (p.Ala112Glu)
n.906C>A
c.383C>A (p.Ala128Glu)
c.533C>A (p.Ala178Glu)
c.506C>A (p.Ala169Glu)
gnomAD v4
7g.150958293C>ACA369862848KCNH2n.1515G>T
c.682G>T (p.Ala228Ser)
c.334G>T (p.Ala112Ser)
n.905G>T
c.382G>T (p.Ala128Ser)
c.532G>T (p.Ala178Ser)
c.505G>T (p.Ala169Ser)
gnomAD v4
7g.150958293C=CA1752418341KCNH2n.1515G=
c.682G= (p.Ala228=)
c.334G= (p.Ala112=)
n.905G=
c.382G= (p.Ala128=)
c.532G= (p.Ala178=)
c.505G= (p.Ala169=)
7g.150958293C>GCA071880KCNH2n.1515G>C
c.682G>C (p.Ala228Pro)
c.334G>C (p.Ala112Pro)
n.905G>C
c.382G>C (p.Ala128Pro)
c.532G>C (p.Ala178Pro)
c.505G>C (p.Ala169Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150958293C>TCA071994KCNH2n.1515G>A
c.682G>A (p.Ala228Thr)
c.334G>A (p.Ala112Thr)
n.905G>A
c.382G>A (p.Ala128Thr)
c.532G>A (p.Ala178Thr)
c.505G>A (p.Ala169Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150958294G>ACA458872303KCNH2n.1514C>T
c.681C>T (p.Pro227=)
c.333C>T (p.Pro111=)
n.904C>T
c.381C>T (p.Pro127=)
c.531C>T (p.Pro177=)
c.504C>T (p.Pro168=)
dbSNP gnomAD v4
7g.150958294G>CCA458872304KCNH2n.1514C>G
c.681C>G (p.Pro227=)
c.333C>G (p.Pro111=)
n.904C>G
c.381C>G (p.Pro127=)
c.531C>G (p.Pro177=)
c.504C>G (p.Pro168=)
ClinVar dbSNP gnomAD v4
7g.150958294G=CA1752418347KCNH2n.1514C=
c.681C= (p.Pro227=)
c.333C= (p.Pro111=)
n.904C=
c.381C= (p.Pro127=)
c.531C= (p.Pro177=)
c.504C= (p.Pro168=)
7g.150958294G>TCA458872307KCNH2n.1514C>A
c.681C>A (p.Pro227=)
c.333C>A (p.Pro111=)
n.904C>A
c.381C>A (p.Pro127=)
c.531C>A (p.Pro177=)
c.504C>A (p.Pro168=)
ClinVar dbSNP gnomAD v4
7g.150958296delCA2685608157KCNH2n.1514del
c.681del (p.Ala228ArgfsTer?)
c.333del (p.Ala112ArgfsTer?)
n.904del
c.381del (p.Ala128ArgfsTer?)
c.531del (p.Ala178ArgfsTer?)
c.504del (p.Ala169ArgfsTer?)
gnomAD v4
7g.150958295G>ACA369862851KCNH2n.1513C>T
c.680C>T (p.Pro227Leu)
c.332C>T (p.Pro111Leu)
n.903C>T
c.380C>T (p.Pro127Leu)
c.530C>T (p.Pro177Leu)
c.503C>T (p.Pro168Leu)
dbSNP gnomAD v2 gnomAD v4
7g.150958295G>CCA369862852KCNH2n.1513C>G
c.680C>G (p.Pro227Arg)
c.332C>G (p.Pro111Arg)
n.903C>G
c.380C>G (p.Pro127Arg)
c.530C>G (p.Pro177Arg)
c.503C>G (p.Pro168Arg)
ClinVar
7g.150958295G=CA1752418352KCNH2n.1513C=
c.680C= (p.Pro227=)
c.332C= (p.Pro111=)
n.903C=
c.380C= (p.Pro127=)
c.530C= (p.Pro177=)
c.503C= (p.Pro168=)
7g.150958295G>TCA369862854KCNH2n.1513C>A
c.680C>A (p.Pro227His)
c.332C>A (p.Pro111His)
n.903C>A
c.380C>A (p.Pro127His)
c.530C>A (p.Pro177His)
c.503C>A (p.Pro168His)
ClinVar gnomAD v4
7g.150958296G>ACA369862857KCNH2n.1512C>T
c.679C>T (p.Pro227Ser)
c.331C>T (p.Pro111Ser)
n.902C>T
c.379C>T (p.Pro127Ser)
c.529C>T (p.Pro177Ser)
c.502C>T (p.Pro168Ser)
gnomAD v4
7g.150958296G>CCA369862858KCNH2n.1512C>G
c.679C>G (p.Pro227Ala)
c.331C>G (p.Pro111Ala)
n.902C>G
c.379C>G (p.Pro127Ala)
c.529C>G (p.Pro177Ala)
c.502C>G (p.Pro168Ala)
gnomAD v4
7g.150958296G=CA1752418357KCNH2n.1512C=
c.679C= (p.Pro227=)
c.331C= (p.Pro111=)
n.902C=
c.379C= (p.Pro127=)
c.529C= (p.Pro177=)
c.502C= (p.Pro168=)
7g.150958296G>TCA169081336KCNH2n.1512C>A
c.679C>A (p.Pro227Thr)
c.331C>A (p.Pro111Thr)
n.902C>A
c.379C>A (p.Pro127Thr)
c.529C>A (p.Pro177Thr)
c.502C>A (p.Pro168Thr)
dbSNP gnomAD v4
7g.150958296_150958297delinsGCCA1752418356KCNH2n.1511_1512delinsGC
c.678_679delinsGC (p.Gly226=)
c.330_331delinsGC (p.Gly110=)
n.901_902delinsGC
c.378_379delinsGC (p.Gly126=)
c.528_529delinsGC (p.Gly176=)
c.501_502delinsGC (p.Gly167=)
7g.150958297C>ACA458872313KCNH2n.1511G>T
c.678G>T (p.Gly226=)
c.330G>T (p.Gly110=)
n.901G>T
c.378G>T (p.Gly126=)
c.528G>T (p.Gly176=)
c.501G>T (p.Gly167=)
gnomAD v4 COSMIC COSMIC
7g.150958297C=CA1752418362KCNH2n.1511G=
c.678G= (p.Gly226=)
c.330G= (p.Gly110=)
n.901G=
c.378G= (p.Gly126=)
c.528G= (p.Gly176=)
c.501G= (p.Gly167=)
7g.150958297C>GCA458872317KCNH2n.1511G>C
c.678G>C (p.Gly226=)
c.330G>C (p.Gly110=)
n.901G>C
c.378G>C (p.Gly126=)
c.528G>C (p.Gly176=)
c.501G>C (p.Gly167=)
7g.150958297C>TCA458872318KCNH2n.1511G>A
c.678G>A (p.Gly226=)
c.330G>A (p.Gly110=)
n.901G>A
c.378G>A (p.Gly126=)
c.528G>A (p.Gly176=)
c.501G>A (p.Gly167=)
dbSNP gnomAD v3 gnomAD v4
7g.150958299delCA008674KCNH2n.1511del
c.678del (p.Ala228ArgfsTer?)
c.330del (p.Ala112ArgfsTer?)
n.901del
c.378del (p.Ala128ArgfsTer?)
c.528del (p.Ala178ArgfsTer?)
c.501del (p.Ala169ArgfsTer?)
ClinVar dbSNP
7g.150958298C>ACA369862862KCNH2n.1510G>T
c.677G>T (p.Gly226Val)
c.329G>T (p.Gly110Val)
n.900G>T
c.377G>T (p.Gly126Val)
c.527G>T (p.Gly176Val)
c.500G>T (p.Gly167Val)
gnomAD v4
7g.150958298C=CA1752418365KCNH2n.1510G=
c.677G= (p.Gly226=)
c.329G= (p.Gly110=)
n.900G=
c.377G= (p.Gly126=)
c.527G= (p.Gly176=)
c.500G= (p.Gly167=)
7g.150958298C>GCA369862864KCNH2n.1510G>C
c.677G>C (p.Gly226Ala)
c.329G>C (p.Gly110Ala)
n.900G>C
c.377G>C (p.Gly126Ala)
c.527G>C (p.Gly176Ala)
c.500G>C (p.Gly167Ala)
gnomAD v4
7g.150958298C>TCA169081346KCNH2n.1510G>A
c.677G>A (p.Gly226Glu)
c.329G>A (p.Gly110Glu)
n.900G>A
c.377G>A (p.Gly126Glu)
c.527G>A (p.Gly176Glu)
c.500G>A (p.Gly167Glu)
dbSNP gnomAD v4
7g.150958299C>ACA369862870KCNH2n.1509G>T
c.676G>T (p.Gly226Trp)
c.328G>T (p.Gly110Trp)
n.899G>T
c.376G>T (p.Gly126Trp)
c.526G>T (p.Gly176Trp)
c.499G>T (p.Gly167Trp)
gnomAD v4
7g.150958299C>GCA369862868KCNH2n.1509G>C
c.676G>C (p.Gly226Arg)
c.328G>C (p.Gly110Arg)
n.899G>C
c.376G>C (p.Gly126Arg)
c.526G>C (p.Gly176Arg)
c.499G>C (p.Gly167Arg)
ClinVar gnomAD v4
7g.150958299C>TCA369862866KCNH2n.1509G>A
c.676G>A (p.Gly226Arg)
c.328G>A (p.Gly110Arg)
n.899G>A
c.376G>A (p.Gly126Arg)
c.526G>A (p.Gly176Arg)
c.499G>A (p.Gly167Arg)
gnomAD v4
7g.150958300G>ACA040219KCNH2n.1508C>T
c.675C>T (p.Leu225=)
c.327C>T (p.Leu109=)
n.898C>T
c.375C>T (p.Leu125=)
c.525C>T (p.Leu175=)
c.498C>T (p.Leu166=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150958300G>CCA10628486KCNH2n.1508C>G
c.675C>G (p.Leu225=)
c.327C>G (p.Leu109=)
n.898C>G
c.375C>G (p.Leu125=)
c.525C>G (p.Leu175=)
c.498C>G (p.Leu166=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958300G=CA1752418369KCNH2n.1508C=
c.675C= (p.Leu225=)
c.327C= (p.Leu109=)
n.898C=
c.375C= (p.Leu125=)
c.525C= (p.Leu175=)
c.498C= (p.Leu166=)
7g.150958300G>TCA458872327KCNH2n.1508C>A
c.675C>A (p.Leu225=)
c.327C>A (p.Leu109=)
n.898C>A
c.375C>A (p.Leu125=)
c.525C>A (p.Leu175=)
c.498C>A (p.Leu166=)
gnomAD v4
7g.150958301A>CCA369862874KCNH2n.1507T>G
c.674T>G (p.Leu225Arg)
c.326T>G (p.Leu109Arg)
n.897T>G
c.374T>G (p.Leu125Arg)
c.524T>G (p.Leu175Arg)
c.497T>G (p.Leu166Arg)
7g.150958301A>GCA369862876KCNH2n.1507T>C
c.674T>C (p.Leu225Pro)
c.326T>C (p.Leu109Pro)
n.897T>C
c.374T>C (p.Leu125Pro)
c.524T>C (p.Leu175Pro)
c.497T>C (p.Leu166Pro)
gnomAD v4
7g.150958301A>TCA369862877KCNH2n.1507T>A
c.674T>A (p.Leu225His)
c.326T>A (p.Leu109His)
n.897T>A
c.374T>A (p.Leu125His)
c.524T>A (p.Leu175His)
c.497T>A (p.Leu166His)
gnomAD v4
7g.150958302G>ACA369862880KCNH2n.1506C>T
c.673C>T (p.Leu225Phe)
c.325C>T (p.Leu109Phe)
n.896C>T
c.373C>T (p.Leu125Phe)
c.523C>T (p.Leu175Phe)
c.496C>T (p.Leu166Phe)
gnomAD v4
7g.150958302G>CCA369862881KCNH2n.1506C>G
c.673C>G (p.Leu225Val)
c.325C>G (p.Leu109Val)
n.896C>G
c.373C>G (p.Leu125Val)
c.523C>G (p.Leu175Val)
c.496C>G (p.Leu166Val)
gnomAD v4
7g.150958302G>TCA369862883KCNH2n.1506C>A
c.673C>A (p.Leu225Ile)
c.325C>A (p.Leu109Ile)
n.896C>A
c.373C>A (p.Leu125Ile)
c.523C>A (p.Leu175Ile)
c.496C>A (p.Leu166Ile)
gnomAD v4
7g.150958303C>ACA071875KCNH2n.1505G>T
c.672G>T (p.Gly224=)
c.324G>T (p.Gly108=)
n.895G>T
c.372G>T (p.Gly124=)
c.522G>T (p.Gly174=)
c.495G>T (p.Gly165=)
ClinVar gnomAD v4
7g.150958303C>GCA458872341KCNH2n.1505G>C
c.672G>C (p.Gly224=)
c.324G>C (p.Gly108=)
n.895G>C
c.372G>C (p.Gly124=)
c.522G>C (p.Gly174=)
c.495G>C (p.Gly165=)
gnomAD v4
7g.150958303C>TCA071871KCNH2n.1505G>A
c.672G>A (p.Gly224=)
c.324G>A (p.Gly108=)
n.895G>A
c.372G>A (p.Gly124=)
c.522G>A (p.Gly174=)
c.495G>A (p.Gly165=)
gnomAD v4
7g.150958304C>ACA369862885KCNH2n.1504G>T
c.671G>T (p.Gly224Val)
c.323G>T (p.Gly108Val)
n.894G>T
c.371G>T (p.Gly124Val)
c.521G>T (p.Gly174Val)
c.494G>T (p.Gly165Val)
gnomAD v4
7g.150958304C=CA1752418376KCNH2n.1504G=
c.671G= (p.Gly224=)
c.323G= (p.Gly108=)
n.894G=
c.371G= (p.Gly124=)
c.521G= (p.Gly174=)
c.494G= (p.Gly165=)
7g.150958304C>GCA369862887KCNH2n.1504G>C
c.671G>C (p.Gly224Ala)
c.323G>C (p.Gly108Ala)
n.894G>C
c.371G>C (p.Gly124Ala)
c.521G>C (p.Gly174Ala)
c.494G>C (p.Gly165Ala)
7g.150958304C>TCA369862888KCNH2n.1504G>A
c.671G>A (p.Gly224Glu)
c.323G>A (p.Gly108Glu)
n.894G>A
c.371G>A (p.Gly124Glu)
c.521G>A (p.Gly174Glu)
c.494G>A (p.Gly165Glu)
dbSNP gnomAD v4
7g.150958306_150958309delCA2739278349KCNH2n.1501_1504del
c.668_671del (p.Ala223GlyfsTer?)
c.320_323del (p.Ala107GlyfsTer?)
n.891_894del
c.368_371del (p.Ala123GlyfsTer?)
c.518_521del (p.Ala173GlyfsTer?)
c.491_494del (p.Ala164GlyfsTer?)
ClinVar
7g.150958305C>ACA369862891KCNH2n.1503G>T
c.670G>T (p.Gly224Trp)
c.322G>T (p.Gly108Trp)
n.893G>T
c.370G>T (p.Gly124Trp)
c.520G>T (p.Gly174Trp)
c.493G>T (p.Gly165Trp)
gnomAD v4
7g.150958305C=CA1752418382KCNH2n.1503G=
c.670G= (p.Gly224=)
c.322G= (p.Gly108=)
n.893G=
c.370G= (p.Gly124=)
c.520G= (p.Gly174=)
c.493G= (p.Gly165=)
7g.150958305C>GCA369862893KCNH2n.1503G>C
c.670G>C (p.Gly224Arg)
c.322G>C (p.Gly108Arg)
n.893G>C
c.370G>C (p.Gly124Arg)
c.520G>C (p.Gly174Arg)
c.493G>C (p.Gly165Arg)
dbSNP
7g.150958305C>TCA008669KCNH2n.1503G>A
c.670G>A (p.Gly224Arg)
c.322G>A (p.Gly108Arg)
n.893G>A
c.370G>A (p.Gly124Arg)
c.520G>A (p.Gly174Arg)
c.493G>A (p.Gly165Arg)
ClinVar dbSNP gnomAD v4
7g.150958305_150958310delinsCTGCCACA1752418379KCNH2n.1498_1503delinsTGGCAG
c.665_670delinsTGGCAG (p.Val222=)
c.317_322delinsTGGCAG (p.Val106=)
n.888_893delinsTGGCAG
c.365_370delinsTGGCAG (p.Val122=)
c.515_520delinsTGGCAG (p.Val172=)
c.488_493delinsTGGCAG (p.Val163=)
7g.150958306delCA2499218809KCNH2n.1502del
c.669del (p.Leu225SerfsTer?)
c.321del (p.Leu109SerfsTer?)
n.892del
c.369del (p.Leu125SerfsTer?)
c.519del (p.Leu175SerfsTer?)
c.492del (p.Leu166SerfsTer?)
ClinVar dbSNP gnomAD v4
7g.150958306T>ACA458872353KCNH2n.1502A>T
c.669A>T (p.Ala223=)
c.321A>T (p.Ala107=)
n.892A>T
c.369A>T (p.Ala123=)
c.519A>T (p.Ala173=)
c.492A>T (p.Ala164=)
gnomAD v4
7g.150958306T>CCA458872354KCNH2n.1502A>G
c.669A>G (p.Ala223=)
c.321A>G (p.Ala107=)
n.892A>G
c.369A>G (p.Ala123=)
c.519A>G (p.Ala173=)
c.492A>G (p.Ala164=)
gnomAD v4
7g.150958306T>GCA458872355KCNH2n.1502A>C
c.669A>C (p.Ala223=)
c.321A>C (p.Ala107=)
n.892A>C
c.369A>C (p.Ala123=)
c.519A>C (p.Ala173=)
c.492A>C (p.Ala164=)
7g.150958306_150958310delinsGCA645294046KCNH2n.1498_1502delinsC
c.665_669delinsC (p.Val222AlafsTer?)
c.317_321delinsC (p.Val106AlafsTer?)
n.888_892delinsC
c.365_369delinsC (p.Val122AlafsTer?)
c.515_519delinsC (p.Val172AlafsTer?)
c.488_492delinsC (p.Val163AlafsTer?)
ClinVar dbSNP
7g.150958307delCA2685608227KCNH2n.1501del
c.668del (p.Ala223GlufsTer?)
c.320del (p.Ala107GlufsTer?)
n.891del
c.368del (p.Ala123GlufsTer?)
c.518del (p.Ala173GlufsTer?)
c.491del (p.Ala164GlufsTer?)
gnomAD v4
7g.150958307G>ACA369862895KCNH2n.1501C>T
c.668C>T (p.Ala223Val)
c.320C>T (p.Ala107Val)
n.891C>T
c.368C>T (p.Ala123Val)
c.518C>T (p.Ala173Val)
c.491C>T (p.Ala164Val)
gnomAD v3 gnomAD v4
7g.150958307G>CCA369862896KCNH2n.1501C>G
c.668C>G (p.Ala223Gly)
c.320C>G (p.Ala107Gly)
n.891C>G
c.368C>G (p.Ala123Gly)
c.518C>G (p.Ala173Gly)
c.491C>G (p.Ala164Gly)
gnomAD v4
7g.150958307G>TCA369862897KCNH2n.1501C>A
c.668C>A (p.Ala223Glu)
c.320C>A (p.Ala107Glu)
n.891C>A
c.368C>A (p.Ala123Glu)
c.518C>A (p.Ala173Glu)
c.491C>A (p.Ala164Glu)
gnomAD v4
7g.150958308C>ACA369862900KCNH2n.1500G>T
c.667G>T (p.Ala223Ser)
c.319G>T (p.Ala107Ser)
n.890G>T
c.367G>T (p.Ala123Ser)
c.517G>T (p.Ala173Ser)
c.490G>T (p.Ala164Ser)
gnomAD v4
7g.150958308C=CA1752418388KCNH2n.1500G=
c.667G= (p.Ala223=)
c.319G= (p.Ala107=)
n.890G=
c.367G= (p.Ala123=)
c.517G= (p.Ala173=)
c.490G= (p.Ala164=)
7g.150958308C>GCA040202KCNH2n.1500G>C
c.667G>C (p.Ala223Pro)
c.319G>C (p.Ala107Pro)
n.890G>C
c.367G>C (p.Ala123Pro)
c.517G>C (p.Ala173Pro)
c.490G>C (p.Ala164Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150958308C>TCA369862902KCNH2n.1500G>A
c.667G>A (p.Ala223Thr)
c.319G>A (p.Ala107Thr)
n.890G>A
c.367G>A (p.Ala123Thr)
c.517G>A (p.Ala173Thr)
c.490G>A (p.Ala164Thr)
gnomAD v4
7g.150958309C>ACA458872357KCNH2n.1499G>T
c.666G>T (p.Val222=)
c.318G>T (p.Val106=)
n.889G>T
c.366G>T (p.Val122=)
c.516G>T (p.Val172=)
c.489G>T (p.Val163=)
gnomAD v4
7g.150958309C>GCA458872362KCNH2n.1499G>C
c.666G>C (p.Val222=)
c.318G>C (p.Val106=)
n.889G>C
c.366G>C (p.Val122=)
c.516G>C (p.Val172=)
c.489G>C (p.Val163=)
7g.150958309C>TCA458872360KCNH2n.1499G>A
c.666G>A (p.Val222=)
c.318G>A (p.Val106=)
n.889G>A
c.366G>A (p.Val122=)
c.516G>A (p.Val172=)
c.489G>A (p.Val163=)
gnomAD v4
7g.150958310A>CCA369862904KCNH2n.1498T>G
c.665T>G (p.Val222Gly)
c.317T>G (p.Val106Gly)
n.888T>G
c.365T>G (p.Val122Gly)
c.515T>G (p.Val172Gly)
c.488T>G (p.Val163Gly)
7g.150958310A>GCA369862906KCNH2n.1498T>C
c.665T>C (p.Val222Ala)
c.317T>C (p.Val106Ala)
n.888T>C
c.365T>C (p.Val122Ala)
c.515T>C (p.Val172Ala)
c.488T>C (p.Val163Ala)
ClinVar dbSNP gnomAD v4
7g.150958310A>TCA369862908KCNH2n.1498T>A
c.665T>A (p.Val222Glu)
c.317T>A (p.Val106Glu)
n.888T>A
c.365T>A (p.Val122Glu)
c.515T>A (p.Val172Glu)
c.488T>A (p.Val163Glu)
7g.150958311C>ACA071906KCNH2n.1497G>T
c.664G>T (p.Val222Leu)
c.316G>T (p.Val106Leu)
n.887G>T
c.364G>T (p.Val122Leu)
c.514G>T (p.Val172Leu)
c.487G>T (p.Val163Leu)
gnomAD v4
7g.150958311C=CA1752418391KCNH2n.1497G=
c.664G= (p.Val222=)
c.316G= (p.Val106=)
n.887G=
c.364G= (p.Val122=)
c.514G= (p.Val172=)
c.487G= (p.Val163=)
7g.150958311C>GCA369862910KCNH2n.1497G>C
c.664G>C (p.Val222Leu)
c.316G>C (p.Val106Leu)
n.887G>C
c.364G>C (p.Val122Leu)
c.514G>C (p.Val172Leu)
c.487G>C (p.Val163Leu)
dbSNP gnomAD v2 gnomAD v4
7g.150958311C>TCA369862912KCNH2n.1497G>A
c.664G>A (p.Val222Met)
c.316G>A (p.Val106Met)
n.887G>A
c.364G>A (p.Val122Met)
c.514G>A (p.Val172Met)
c.487G>A (p.Val163Met)
ClinVar dbSNP gnomAD v4
7g.150958312G>ACA071984KCNH2n.1496C>T
c.663C>T (p.His221=)
c.315C>T (p.His105=)
n.886C>T
c.363C>T (p.His121=)
c.513C>T (p.His171=)
c.486C>T (p.His162=)
gnomAD v4 COSMIC COSMIC
7g.150958312G>CCA369862914KCNH2n.1496C>G
c.663C>G (p.His221Gln)
c.315C>G (p.His105Gln)
n.886C>G
c.363C>G (p.His121Gln)
c.513C>G (p.His171Gln)
c.486C>G (p.His162Gln)
ClinVar dbSNP gnomAD v4
7g.150958312G=CA1752418394KCNH2n.1496C=
c.663C= (p.His221=)
c.315C= (p.His105=)
n.886C=
c.363C= (p.His121=)
c.513C= (p.His171=)
c.486C= (p.His162=)
7g.150958312G>TCA040187KCNH2n.1496C>A
c.663C>A (p.His221Gln)
c.315C>A (p.His105Gln)
n.886C>A
c.363C>A (p.His121Gln)
c.513C>A (p.His171Gln)
c.486C>A (p.His162Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150958313T>ACA369862916KCNH2n.1495A>T
c.662A>T (p.His221Leu)
c.314A>T (p.His105Leu)
n.885A>T
c.362A>T (p.His121Leu)
c.512A>T (p.His171Leu)
c.485A>T (p.His162Leu)
gnomAD v4
7g.150958313T>CCA369862918KCNH2n.1495A>G
c.662A>G (p.His221Arg)
c.314A>G (p.His105Arg)
n.885A>G
c.362A>G (p.His121Arg)
c.512A>G (p.His171Arg)
c.485A>G (p.His162Arg)
ClinVar gnomAD v4
7g.150958313T>GCA369862919KCNH2n.1495A>C
c.662A>C (p.His221Pro)
c.314A>C (p.His105Pro)
n.885A>C
c.362A>C (p.His121Pro)
c.512A>C (p.His171Pro)
c.485A>C (p.His162Pro)
7g.150958314G>ACA369862923KCNH2n.1494C>T
c.661C>T (p.His221Tyr)
c.313C>T (p.His105Tyr)
n.884C>T
c.361C>T (p.His121Tyr)
c.511C>T (p.His171Tyr)
c.484C>T (p.His162Tyr)
gnomAD v4
7g.150958314G>CCA369862924KCNH2n.1494C>G
c.661C>G (p.His221Asp)
c.313C>G (p.His105Asp)
n.884C>G
c.361C>G (p.His121Asp)
c.511C>G (p.His171Asp)
c.484C>G (p.His162Asp)
dbSNP gnomAD v3 gnomAD v4
7g.150958314G=CA1752418398KCNH2n.1494C=
c.661C= (p.His221=)
c.313C= (p.His105=)
n.884C=
c.361C= (p.His121=)
c.511C= (p.His171=)
c.484C= (p.His162=)
7g.150958314G>TCA369862925KCNH2n.1494C>A
c.661C>A (p.His221Asn)
c.313C>A (p.His105Asn)
n.884C>A
c.361C>A (p.His121Asn)
c.511C>A (p.His171Asn)
c.484C>A (p.His162Asn)
gnomAD v4
7g.150958315G>ACA458872378KCNH2n.1493C>T
c.660C>T (p.Asn220=)
c.312C>T (p.Asn104=)
n.883C>T
c.360C>T (p.Asn120=)
c.510C>T (p.Asn170=)
c.483C>T (p.Asn161=)
gnomAD v4
7g.150958315G>CCA369862927KCNH2n.1493C>G
c.660C>G (p.Asn220Lys)
c.312C>G (p.Asn104Lys)
n.883C>G
c.360C>G (p.Asn120Lys)
c.510C>G (p.Asn170Lys)
c.483C>G (p.Asn161Lys)
gnomAD v4
7g.150958315G>TCA369862929KCNH2n.1493C>A
c.660C>A (p.Asn220Lys)
c.312C>A (p.Asn104Lys)
n.883C>A
c.360C>A (p.Asn120Lys)
c.510C>A (p.Asn170Lys)
c.483C>A (p.Asn161Lys)
gnomAD v4
7g.150958316T>ACA369862931KCNH2n.1492A>T
c.659A>T (p.Asn220Ile)
c.311A>T (p.Asn104Ile)
n.882A>T
c.359A>T (p.Asn120Ile)
c.509A>T (p.Asn170Ile)
c.482A>T (p.Asn161Ile)
gnomAD v4
7g.150958316T>CCA369862933KCNH2n.1492A>G
c.659A>G (p.Asn220Ser)
c.311A>G (p.Asn104Ser)
n.882A>G
c.359A>G (p.Asn120Ser)
c.509A>G (p.Asn170Ser)
c.482A>G (p.Asn161Ser)
gnomAD v4
7g.150958316T>GCA369862935KCNH2n.1492A>C
c.659A>C (p.Asn220Thr)
c.311A>C (p.Asn104Thr)
n.882A>C
c.359A>C (p.Asn120Thr)
c.509A>C (p.Asn170Thr)
c.482A>C (p.Asn161Thr)
7g.150958317delCA2697549698KCNH2n.1492del
c.659del (p.Asn220ThrfsTer?)
c.311del (p.Asn104ThrfsTer?)
n.882del
c.359del (p.Asn120ThrfsTer?)
c.509del (p.Asn170ThrfsTer?)
c.482del (p.Asn161ThrfsTer?)
ClinVar
7g.150958317T>ACA369862937KCNH2n.1491A>T
c.658A>T (p.Asn220Tyr)
c.310A>T (p.Asn104Tyr)
n.881A>T
c.358A>T (p.Asn120Tyr)
c.508A>T (p.Asn170Tyr)
c.481A>T (p.Asn161Tyr)
COSMIC COSMIC
7g.150958317T>CCA369862939KCNH2n.1491A>G
c.658A>G (p.Asn220Asp)
c.310A>G (p.Asn104Asp)
n.881A>G
c.358A>G (p.Asn120Asp)
c.508A>G (p.Asn170Asp)
c.481A>G (p.Asn161Asp)
gnomAD v4
7g.150958317T>GCA369862941KCNH2n.1491A>C
c.658A>C (p.Asn220His)
c.310A>C (p.Asn104His)
n.881A>C
c.358A>C (p.Asn120His)
c.508A>C (p.Asn170His)
c.481A>C (p.Asn161His)
7g.150958318delCA2685608280KCNH2n.1490del
c.657del (p.Asp219GlufsTer?)
c.309del (p.Asp103GlufsTer?)
n.880del
c.357del (p.Asp119GlufsTer?)
c.507del (p.Asp169GlufsTer?)
c.480del (p.Asp160GlufsTer?)
gnomAD v4
7g.150958318G>ACA458872389KCNH2n.1490C>T
c.657C>T (p.Asp219=)
c.309C>T (p.Asp103=)
n.880C>T
c.357C>T (p.Asp119=)
c.507C>T (p.Asp169=)
c.480C>T (p.Asp160=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150958318G>CCA369862943KCNH2n.1490C>G
c.657C>G (p.Asp219Glu)
c.309C>G (p.Asp103Glu)
n.880C>G
c.357C>G (p.Asp119Glu)
c.507C>G (p.Asp169Glu)
c.480C>G (p.Asp160Glu)
7g.150958318G=CA1752418400KCNH2n.1490C=
c.657C= (p.Asp219=)
c.309C= (p.Asp103=)
n.880C=
c.357C= (p.Asp119=)
c.507C= (p.Asp169=)
c.480C= (p.Asp160=)
7g.150958318G>TCA369862944KCNH2n.1490C>A
c.657C>A (p.Asp219Glu)
c.309C>A (p.Asp103Glu)
n.880C>A
c.357C>A (p.Asp119Glu)
c.507C>A (p.Asp169Glu)
c.480C>A (p.Asp160Glu)
gnomAD v4
7g.150958319T>ACA008651KCNH2n.1489A>T
c.656A>T (p.Asp219Val)
c.308A>T (p.Asp103Val)
n.879A>T
c.356A>T (p.Asp119Val)
c.506A>T (p.Asp169Val)
c.479A>T (p.Asp160Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150958319T>CCA369862949KCNH2n.1489A>G
c.656A>G (p.Asp219Gly)
c.308A>G (p.Asp103Gly)
n.879A>G
c.356A>G (p.Asp119Gly)
c.506A>G (p.Asp169Gly)
c.479A>G (p.Asp160Gly)
gnomAD v4
7g.150958319T>GCA369862947KCNH2n.1489A>C
c.656A>C (p.Asp219Ala)
c.308A>C (p.Asp103Ala)
n.879A>C
c.356A>C (p.Asp119Ala)
c.506A>C (p.Asp169Ala)
c.479A>C (p.Asp160Ala)
7g.150958319T=CA1752418404KCNH2n.1489A=
c.656A= (p.Asp219=)
c.308A= (p.Asp103=)
n.879A=
c.356A= (p.Asp119=)
c.506A= (p.Asp169=)
c.479A= (p.Asp160=)
7g.150958320C>ACA369862951KCNH2n.1488G>T
c.655G>T (p.Asp219Tyr)
c.307G>T (p.Asp103Tyr)
n.878G>T
c.355G>T (p.Asp119Tyr)
c.505G>T (p.Asp169Tyr)
c.478G>T (p.Asp160Tyr)
gnomAD v4
7g.150958320C=CA1752418409KCNH2n.1488G=
c.655G= (p.Asp219=)
c.307G= (p.Asp103=)
n.878G=
c.355G= (p.Asp119=)
c.505G= (p.Asp169=)
c.478G= (p.Asp160=)
7g.150958320C>GCA369862953KCNH2n.1488G>C
c.655G>C (p.Asp219His)
c.307G>C (p.Asp103His)
n.878G>C
c.355G>C (p.Asp119His)
c.505G>C (p.Asp169His)
c.478G>C (p.Asp160His)
gnomAD v4
7g.150958320C>TCA369862954KCNH2n.1488G>A
c.655G>A (p.Asp219Asn)
c.307G>A (p.Asp103Asn)
n.878G>A
c.355G>A (p.Asp119Asn)
c.505G>A (p.Asp169Asn)
c.478G>A (p.Asp160Asn)
ClinVar dbSNP gnomAD v4
7g.150958321delCA458872397KCNH2n.1488del
c.655del (p.Asp219ThrfsTer?)
c.307del (p.Asp103ThrfsTer?)
n.878del
c.355del (p.Asp119ThrfsTer?)
c.505del (p.Asp169ThrfsTer?)
c.478del (p.Asp160ThrfsTer?)
COSMIC
7g.150958321C>ACA369862956KCNH2n.1487G>T
c.654G>T (p.Met218Ile)
c.306G>T (p.Met102Ile)
n.877G>T
c.354G>T (p.Met118Ile)
c.504G>T (p.Met168Ile)
c.477G>T (p.Met159Ile)
dbSNP gnomAD v2 gnomAD v4
7g.150958321C=CA1752418417KCNH2n.1487G=
c.654G= (p.Met218=)
c.306G= (p.Met102=)
n.877G=
c.354G= (p.Met118=)
c.504G= (p.Met168=)
c.477G= (p.Met159=)
7g.150958321C>GCA369862957KCNH2n.1487G>C
c.654G>C (p.Met218Ile)
c.306G>C (p.Met102Ile)
n.877G>C
c.354G>C (p.Met118Ile)
c.504G>C (p.Met168Ile)
c.477G>C (p.Met159Ile)
gnomAD v4
7g.150958321C>TCA369862959KCNH2n.1487G>A
c.654G>A (p.Met218Ile)
c.306G>A (p.Met102Ile)
n.877G>A
c.354G>A (p.Met118Ile)
c.504G>A (p.Met168Ile)
c.477G>A (p.Met159Ile)
gnomAD v4

Number of alleles fetched