| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.150958208_150958221del | CA2695208634 | KCNH2 | n.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?) | |
| 7 | g.150958211_150958222del | CA2685607687 | KCNH2 | n.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 |
| 7 | g.150958217_150958234dup | CA2685607721 | KCNH2 | n.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 |
| 7 | g.150958219_150958221del | CA2695208636 | KCNH2 | n.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) | |
| 7 | g.150958221G>A | CA169081266 | KCNH2 | n.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 |
| 7 | g.150958221G>C | CA008755 | KCNH2 | n.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 |
| 7 | g.150958221G= | CA1752418128 | KCNH2 | n.1587C= c.754C= (p.Arg252=) c.406C= (p.Arg136=) n.977C= c.454C= (p.Arg152=) c.604C= (p.Arg202=) c.577C= (p.Arg193=) | |
| 7 | g.150958221G>T | CA169081268 | KCNH2 | n.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 |
| 7 | g.150958224del | CA2685607759 | KCNH2 | n.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 |
| 7 | g.150958223_150958242dup | CA305302 | KCNH2 | n.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 |
| 7 | g.150958222G>A | CA458872083 | KCNH2 | n.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 |
| 7 | g.150958222G>C | CA458872084 | KCNH2 | n.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=) | |
| 7 | g.150958222G>T | CA458872086 | KCNH2 | n.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 |
| 7 | g.150958223G>A | CA369862628 | KCNH2 | n.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 |
| 7 | g.150958223G>C | CA369862630 | KCNH2 | n.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) | |
| 7 | g.150958223G= | CA1752418131 | KCNH2 | n.1585C= c.752C= (p.Pro251=) c.404C= (p.Pro135=) n.975C= c.452C= (p.Pro151=) c.602C= (p.Pro201=) c.575C= (p.Pro192=) | |
| 7 | g.150958223G>T | CA369862632 | KCNH2 | n.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 |
| 7 | g.150958224G>A | CA008748 | KCNH2 | n.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 |
| 7 | g.150958224G>C | CA008740 | KCNH2 | n.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 |
| 7 | g.150958224G= | CA1752418136 | KCNH2 | n.1584C= c.751C= (p.Pro251=) c.403C= (p.Pro135=) n.974C= c.451C= (p.Pro151=) c.601C= (p.Pro201=) c.574C= (p.Pro192=) | |
| 7 | g.150958224G>T | CA369862636 | KCNH2 | n.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 |
| 7 | g.150958224_150958225delinsAG | CA2573141817 | KCNH2 | n.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 |
| 7 | g.150958225C>A | CA458872088 | KCNH2 | n.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 |
| 7 | g.150958225C= | CA1752418140 | KCNH2 | n.1583G= c.750G= (p.Ser250=) c.402G= (p.Ser134=) n.973G= c.450G= (p.Ser150=) c.600G= (p.Ser200=) c.573G= (p.Ser191=) | |
| 7 | g.150958225C>G | CA458872090 | KCNH2 | n.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 |
| 7 | g.150958225C>T | CA458872089 | KCNH2 | n.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 |
| 7 | g.150958226G>A | CA369862638 | KCNH2 | n.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 |
| 7 | g.150958226G>C | CA369862640 | KCNH2 | n.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) | |
| 7 | g.150958226G= | CA1752418142 | KCNH2 | n.1582C= c.749C= (p.Ser250=) c.401C= (p.Ser134=) n.972C= c.449C= (p.Ser150=) c.599C= (p.Ser200=) c.572C= (p.Ser191=) | |
| 7 | g.150958226G>T | CA008733 | KCNH2 | n.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 |
| 7 | g.150958227A>C | CA369862643 | KCNH2 | n.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) | |
| 7 | g.150958227A>G | CA369862645 | KCNH2 | n.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 |
| 7 | g.150958227A>T | CA369862642 | KCNH2 | n.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 |
| 7 | g.150958228T>A | CA458872096 | KCNH2 | n.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=) | |
| 7 | g.150958228T>C | CA458872097 | KCNH2 | n.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 |
| 7 | g.150958228T>G | CA458872098 | KCNH2 | n.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=) | |
| 7 | g.150958229G>A | CA369862649 | KCNH2 | n.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 |
| 7 | g.150958229G>C | CA369862648 | KCNH2 | n.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) | |
| 7 | g.150958229G= | CA1752418146 | KCNH2 | n.1579C= c.746C= (p.Pro249=) c.398C= (p.Pro133=) n.969C= c.446C= (p.Pro149=) c.596C= (p.Pro199=) c.569C= (p.Pro190=) | |
| 7 | g.150958229G>T | CA369862651 | KCNH2 | n.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 |
| 7 | g.150958231del | CA2582341955 | KCNH2 | n.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 |
| 7 | g.150958230G>A | CA369862654 | KCNH2 | n.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 |
| 7 | g.150958230G>C | CA369862655 | KCNH2 | n.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) | |
| 7 | g.150958230G>T | CA369862657 | KCNH2 | n.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 |
| 7 | g.150958231G>A | CA458872107 | KCNH2 | n.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 |
| 7 | g.150958231G>C | CA458872111 | KCNH2 | n.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 |
| 7 | g.150958231G= | CA1752418149 | KCNH2 | n.1577C= c.744C= (p.Leu248=) c.396C= (p.Leu132=) n.967C= c.444C= (p.Leu148=) c.594C= (p.Leu198=) c.567C= (p.Leu189=) | |
| 7 | g.150958231G>T | CA458872113 | KCNH2 | n.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 |
| 7 | g.150958232A= | CA1752418150 | KCNH2 | n.1576T= c.743T= (p.Leu248=) c.395T= (p.Leu132=) n.966T= c.443T= (p.Leu148=) c.593T= (p.Leu198=) c.566T= (p.Leu189=) | |
| 7 | g.150958232A>C | CA369862659 | KCNH2 | n.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 |