Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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 |
7 | g.150958232A>G | CA369862661 | KCNH2 | n.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 |
7 | g.150958232A>T | CA369862662 | KCNH2 | n.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) | |
7 | g.150958233G>A | CA369862664 | KCNH2 | n.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 |
7 | g.150958233G>C | CA369862666 | KCNH2 | n.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 |
7 | g.150958233G= | CA1752418151 | KCNH2 | n.1575C= c.742C= (p.Leu248=) c.394C= (p.Leu132=) n.965C= c.442C= (p.Leu148=) c.592C= (p.Leu198=) c.565C= (p.Leu189=) | |
7 | g.150958233G>T | CA369862667 | KCNH2 | n.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 |
7 | g.150958237_150958249del | CA2695208637 | KCNH2 | n.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?) | |
7 | g.150958234C>A | CA369862668 | KCNH2 | n.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 |
7 | g.150958234C>G | CA369862669 | KCNH2 | n.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) | |
7 | g.150958234C>T | CA072053 | KCNH2 | n.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 |
7 | g.150958235T>A | CA369862672 | KCNH2 | n.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) | |
7 | g.150958235T>C | CA369862671 | KCNH2 | n.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 |
7 | g.150958235T>G | CA369862670 | KCNH2 | n.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) | |
7 | g.150958235T= | CA1752418152 | KCNH2 | n.1573A= c.740A= (p.Gln247=) c.392A= (p.Gln131=) n.963A= c.440A= (p.Gln147=) c.590A= (p.Gln197=) c.563A= (p.Gln188=) | |
7 | g.150958236G>A | CA369862673 | KCNH2 | n.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 |
7 | g.150958236G>C | CA369862674 | KCNH2 | n.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) | |
7 | g.150958236G>T | CA369862675 | KCNH2 | n.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 |
7 | g.150958237G>A | CA458872126 | KCNH2 | n.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 |
7 | g.150958237G>C | CA458872128 | KCNH2 | n.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 |
7 | g.150958237G= | CA1752418154 | KCNH2 | n.1571C= c.738C= (p.Gly246=) c.390C= (p.Gly130=) n.961C= c.438C= (p.Gly146=) c.588C= (p.Gly196=) c.561C= (p.Gly187=) | |
7 | g.150958237G>T | CA458872130 | KCNH2 | n.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 |
7 | g.150958238C>A | CA369862676 | KCNH2 | n.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 |
7 | g.150958238C>G | CA369862677 | KCNH2 | n.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 |
7 | g.150958238C>T | CA369862678 | KCNH2 | n.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 |
7 | g.150958239C>A | CA16605738 | KCNH2 | n.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 |
7 | g.150958239C= | CA1752418155 | KCNH2 | n.1569G= c.736G= (p.Gly246=) c.388G= (p.Gly130=) n.959G= c.436G= (p.Gly146=) c.586G= (p.Gly196=) c.559G= (p.Gly187=) | |
7 | g.150958239C>G | CA369862679 | KCNH2 | n.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 |
7 | g.150958239C>T | CA369862680 | KCNH2 | n.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 |
7 | g.150958240G>A | CA072040 | KCNH2 | n.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 |
7 | g.150958240G>C | CA458872137 | KCNH2 | n.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 |
7 | g.150958240G= | CA1752418159 | KCNH2 | n.1568C= c.735C= (p.Pro245=) c.387C= (p.Pro129=) n.958C= c.435C= (p.Pro145=) c.585C= (p.Pro195=) c.558C= (p.Pro186=) | |
7 | g.150958240G>T | CA458872138 | KCNH2 | n.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 |
7 | g.150958242dup | CA2580077691 | KCNH2 | n.1568dup c.735dup (p.Gly246ArgfsTer?) c.387dup (p.Gly130ArgfsTer?) n.958dup c.435dup (p.Gly146ArgfsTer?) c.585dup (p.Gly196ArgfsTer?) c.558dup (p.Gly187ArgfsTer?) | ClinVar |
7 | g.150958241_150958242dup | CA2695208638 | KCNH2 | n.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?) | |
7 | g.150958242del | CA2685607855 | KCNH2 | n.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 |
7 | g.150958241G>A | CA369862681 | KCNH2 | n.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 |
7 | g.150958241G>C | CA369862682 | KCNH2 | n.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 |
7 | g.150958241G= | CA1752418161 | KCNH2 | n.1567C= c.734C= (p.Pro245=) c.386C= (p.Pro129=) n.957C= c.434C= (p.Pro145=) c.584C= (p.Pro195=) c.557C= (p.Pro186=) | |
7 | g.150958241G>T | CA369862683 | KCNH2 | n.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 |
7 | g.150958242G>A | CA369862686 | KCNH2 | n.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 |
7 | g.150958242G>C | CA369862685 | KCNH2 | n.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) | |
7 | g.150958242G>T | CA369862684 | KCNH2 | n.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 |
7 | g.150958242_150958243delinsGC | CA1752418163 | KCNH2 | n.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=) | |
7 | g.150958243del | CA008725 | KCNH2 | n.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 |
7 | g.150958243C>A | CA458872144 | KCNH2 | n.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 |
7 | g.150958243C= | CA1752418166 | KCNH2 | n.1565G= c.732G= (p.Ala244=) c.384G= (p.Ala128=) n.955G= c.432G= (p.Ala144=) c.582G= (p.Ala194=) c.555G= (p.Ala185=) | |
7 | g.150958243C>G | CA458872147 | KCNH2 | n.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 |
7 | g.150958243C>T | CA458872148 | KCNH2 | n.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 |
7 | g.150958244G>A | CA16612195 | KCNH2 | n.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 |
7 | g.150958244G>C | CA040295 | KCNH2 | n.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 |
7 | g.150958244G= | CA1752418173 | KCNH2 | n.1564C= c.731C= (p.Ala244=) c.383C= (p.Ala128=) n.954C= c.431C= (p.Ala144=) c.581C= (p.Ala194=) c.554C= (p.Ala185=) | |
7 | g.150958244G>T | CA369862687 | KCNH2 | n.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 |
7 | g.150958245C>A | CA369862688 | KCNH2 | n.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 |
7 | g.150958245C= | CA1752418181 | KCNH2 | n.1563G= c.730G= (p.Ala244=) c.382G= (p.Ala128=) n.953G= c.430G= (p.Ala144=) c.580G= (p.Ala194=) c.553G= (p.Ala185=) | |
7 | g.150958245C>G | CA369862689 | KCNH2 | n.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) | |
7 | g.150958245C>T | CA369862690 | KCNH2 | n.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 |
7 | g.150958246G>A | CA336005 | KCNH2 | n.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 |
7 | g.150958246G>C | CA369862691 | KCNH2 | n.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 |
7 | g.150958246G= | CA1752418185 | KCNH2 | n.1562C= c.729C= (p.Ser243=) c.381C= (p.Ser127=) n.952C= c.429C= (p.Ser143=) c.579C= (p.Ser193=) c.552C= (p.Ser184=) | |
7 | g.150958246G>T | CA369862692 | KCNH2 | n.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 |
7 | g.150958247C>A | CA369862693 | KCNH2 | n.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 |
7 | g.150958247C= | CA1752418190 | KCNH2 | n.1561G= c.728G= (p.Ser243=) c.380G= (p.Ser127=) n.951G= c.428G= (p.Ser143=) c.578G= (p.Ser193=) c.551G= (p.Ser184=) | |
7 | g.150958247C>G | CA369862694 | KCNH2 | n.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) | |
7 | g.150958247C>T | CA369862695 | KCNH2 | n.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 |
7 | g.150958248T>A | CA369862698 | KCNH2 | n.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) | |
7 | g.150958248T>C | CA369862696 | KCNH2 | n.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 |
7 | g.150958248T>G | CA369862697 | KCNH2 | n.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) | |
7 | g.150958249G>A | CA458872167 | KCNH2 | n.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 |
7 | g.150958249G>C | CA458872166 | KCNH2 | n.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=) | |
7 | g.150958249G>T | CA458872165 | KCNH2 | n.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 |
7 | g.150958249_150958250delinsGC | CA1752418195 | KCNH2 | n.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=) | |
7 | g.150958249_150958250delinsTT | CA658656014 | KCNH2 | n.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 |
7 | g.150958250del | CA2685607920 | KCNH2 | n.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 |
7 | g.150958250C>A | CA369862699 | KCNH2 | n.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 |
7 | g.150958250C>G | CA369862700 | KCNH2 | n.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) | |
7 | g.150958250C>T | CA369862702 | KCNH2 | n.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 |
7 | g.150958251G>A | CA369862704 | KCNH2 | n.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 |
7 | g.150958251G>C | CA008718 | KCNH2 | n.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 |
7 | g.150958251G= | CA1752418199 | KCNH2 | n.1557C= c.724C= (p.Arg242=) c.376C= (p.Arg126=) n.947C= c.424C= (p.Arg142=) c.574C= (p.Arg192=) c.547C= (p.Arg183=) | |
7 | g.150958251G>T | CA369862707 | KCNH2 | n.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 |
7 | g.150958254dup | CA658761341 | KCNH2 | n.1557dup c.724dup (p.Arg242ProfsTer?) c.376dup (p.Arg126ProfsTer?) n.947dup c.424dup (p.Arg142ProfsTer?) c.574dup (p.Arg192ProfsTer?) c.547dup (p.Arg183ProfsTer?) | |
7 | g.150958254del | CA2685607926 | KCNH2 | n.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 |
7 | g.150958252G>A | CA458872171 | KCNH2 | n.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 |
7 | g.150958252G>C | CA458872173 | KCNH2 | n.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=) | |
7 | g.150958252G>T | CA458872172 | KCNH2 | n.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 |
7 | g.150958253G>A | CA008711 | KCNH2 | n.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 |
7 | g.150958253G>C | CA369862710 | KCNH2 | n.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 |
7 | g.150958253G= | CA1752418209 | KCNH2 | n.1555C= c.722C= (p.Pro241=) c.374C= (p.Pro125=) n.945C= c.422C= (p.Pro141=) c.572C= (p.Pro191=) c.545C= (p.Pro182=) | |
7 | g.150958253G>T | CA369862712 | KCNH2 | n.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 |
7 | g.150958255_150958265del | CA2685607947 | KCNH2 | n.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 |
7 | g.150958254G>A | CA040287 | KCNH2 | n.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 |
7 | g.150958254G>C | CA369862714 | KCNH2 | n.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) | |
7 | g.150958254G= | CA1752418212 | KCNH2 | n.1554C= c.721C= (p.Pro241=) c.373C= (p.Pro125=) n.944C= c.421C= (p.Pro141=) c.571C= (p.Pro191=) c.544C= (p.Pro182=) | |
7 | g.150958254G>T | CA369862716 | KCNH2 | n.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 |
7 | g.150958255del | CA2685607962 | KCNH2 | n.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 |
7 | g.150958255C>A | CA458872180 | KCNH2 | n.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 |
7 | g.150958255C= | CA1752418216 | KCNH2 | n.1553G= c.720G= (p.Pro240=) c.372G= (p.Pro124=) n.943G= c.420G= (p.Pro140=) c.570G= (p.Pro190=) c.543G= (p.Pro181=) | |
7 | g.150958255C>G | CA458872181 | KCNH2 | n.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 |
7 | g.150958255C>T | CA16612197 | KCNH2 | n.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 |
7 | g.150958256G>A | CA008703 | KCNH2 | n.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 |
7 | g.150958256G>C | CA369862721 | KCNH2 | n.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) | |
7 | g.150958256G= | CA1752418224 | KCNH2 | n.1552C= c.719C= (p.Pro240=) c.371C= (p.Pro124=) n.942C= c.419C= (p.Pro140=) c.569C= (p.Pro190=) c.542C= (p.Pro181=) | |
7 | g.150958256G>T | CA369862719 | KCNH2 | n.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 |
7 | g.150958257_150958261del | CA2695208639 | KCNH2 | n.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?) | |
7 | g.150958257G>A | CA369862726 | KCNH2 | n.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 |
7 | g.150958257G>C | CA369862723 | KCNH2 | n.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 |
7 | g.150958257G= | CA1752418227 | KCNH2 | n.1551C= c.718C= (p.Pro240=) c.370C= (p.Pro124=) n.941C= c.418C= (p.Pro140=) c.568C= (p.Pro190=) c.541C= (p.Pro181=) | |
7 | g.150958257G>T | CA369862725 | KCNH2 | n.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 |
7 | g.150958258del | CA2685607981 | KCNH2 | n.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 |
7 | g.150958258A>C | CA458872186 | KCNH2 | n.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=) | |
7 | g.150958258A>G | CA458872193 | KCNH2 | n.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 |
7 | g.150958258A>T | CA458872195 | KCNH2 | n.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=) | |
7 | g.150958259G>A | CA369862729 | KCNH2 | n.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 |
7 | g.150958259G>C | CA369862730 | KCNH2 | n.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 |
7 | g.150958259G= | CA1752418230 | KCNH2 | n.1549C= c.716C= (p.Ser239=) c.368C= (p.Ser123=) n.939C= c.416C= (p.Ser139=) c.566C= (p.Ser189=) c.539C= (p.Ser180=) | |
7 | g.150958259G>T | CA369862731 | KCNH2 | n.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 |
7 | g.150958260A>C | CA369862734 | KCNH2 | n.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) | |
7 | g.150958260A>G | CA369862735 | KCNH2 | n.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 |
7 | g.150958260A>T | CA369862737 | KCNH2 | n.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) | |
7 | g.150958261G>A | CA458872199 | KCNH2 | n.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 |
7 | g.150958261G>C | CA458872200 | KCNH2 | n.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 |
7 | g.150958261G= | CA1752418233 | KCNH2 | n.1547C= c.714C= (p.Gly238=) c.366C= (p.Gly122=) n.937C= c.414C= (p.Gly138=) c.564C= (p.Gly188=) c.537C= (p.Gly179=) | |
7 | g.150958261G>T | CA458872201 | KCNH2 | n.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 |
7 | g.150958262C>A | CA369862739 | KCNH2 | n.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 |
7 | g.150958262C= | CA1752418236 | KCNH2 | n.1546G= c.713G= (p.Gly238=) c.365G= (p.Gly122=) n.936G= c.413G= (p.Gly138=) c.563G= (p.Gly188=) c.536G= (p.Gly179=) | |
7 | g.150958262C>G | CA369862741 | KCNH2 | n.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) | |
7 | g.150958262C>T | CA169081297 | KCNH2 | n.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 |
7 | g.150958263C>A | CA369862746 | KCNH2 | n.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 |
7 | g.150958263C= | CA1752418240 | KCNH2 | n.1545G= c.712G= (p.Gly238=) c.364G= (p.Gly122=) n.935G= c.412G= (p.Gly138=) c.562G= (p.Gly188=) c.535G= (p.Gly179=) | |
7 | g.150958263C>G | CA369862744 | KCNH2 | n.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 |
7 | g.150958263C>T | CA008696 | KCNH2 | n.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 |
7 | g.150958264G>A | CA040273 | KCNH2 | n.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 |
7 | g.150958264G>C | CA458872203 | KCNH2 | n.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 |
7 | g.150958264G= | CA1752418243 | KCNH2 | n.1544C= c.711C= (p.Pro237=) c.363C= (p.Pro121=) n.934C= c.411C= (p.Pro137=) c.561C= (p.Pro187=) c.534C= (p.Pro178=) | |
7 | g.150958264G>T | CA458872205 | KCNH2 | n.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 |
7 | g.150958266del | CA2685608021 | KCNH2 | n.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 |
7 | g.150958265_150958266del | CA2685608028 | KCNH2 | n.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 |
7 | g.150958265G>A | CA369862749 | KCNH2 | n.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 |
7 | g.150958265G>C | CA369862751 | KCNH2 | n.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) | |
7 | g.150958265G= | CA1752418246 | KCNH2 | n.1543C= c.710C= (p.Pro237=) c.362C= (p.Pro121=) n.933C= c.410C= (p.Pro137=) c.560C= (p.Pro187=) c.533C= (p.Pro178=) | |
7 | g.150958265G>T | CA369862753 | KCNH2 | n.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 |
7 | g.150958266G>A | CA369862754 | KCNH2 | n.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 |
7 | g.150958266G>C | CA369862756 | KCNH2 | n.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 |
7 | g.150958266G>T | CA369862758 | KCNH2 | n.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 |
7 | g.150958266_150958268delinsGAC | CA1752418249 | KCNH2 | n.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=) | |
7 | g.150958267A>C | CA458872210 | KCNH2 | n.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 |
7 | g.150958267A>G | CA458872212 | KCNH2 | n.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 |
7 | g.150958267A>T | CA458872211 | KCNH2 | n.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=) | |
7 | g.150958267_150958268del | CA1139660322 | KCNH2 | n.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 |
7 | g.150958268C>A | CA008689 | KCNH2 | n.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 |
7 | g.150958268C= | CA1752418260 | KCNH2 | n.1540G= c.707G= (p.Gly236=) c.359G= (p.Gly120=) n.930G= c.407G= (p.Gly136=) c.557G= (p.Gly186=) c.530G= (p.Gly177=) | |
7 | g.150958268C>G | CA369862761 | KCNH2 | n.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) | |
7 | g.150958268C>T | CA369862763 | KCNH2 | n.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 |
7 | g.150958270del | CA2579062963 | KCNH2 | n.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 |
7 | g.150958269C>A | CA369862765 | KCNH2 | n.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 |
7 | g.150958269C>G | CA369862767 | KCNH2 | n.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) | |
7 | g.150958269C>T | CA369862769 | KCNH2 | n.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 |
7 | g.150958270C>A | CA458872216 | KCNH2 | n.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 |
7 | g.150958270C= | CA1752418262 | KCNH2 | n.1538G= c.705G= (p.Val235=) c.357G= (p.Val119=) n.928G= c.405G= (p.Val135=) c.555G= (p.Val185=) c.528G= (p.Val176=) | |
7 | g.150958270C>G | CA458872217 | KCNH2 | n.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=) | |
7 | g.150958270C>T | CA458872220 | KCNH2 | n.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 |
7 | g.150958271A= | CA1752418266 | KCNH2 | n.1537T= c.704T= (p.Val235=) c.356T= (p.Val119=) n.927T= c.404T= (p.Val135=) c.554T= (p.Val185=) c.527T= (p.Val176=) | |
7 | g.150958271A>C | CA369862772 | KCNH2 | n.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) | |
7 | g.150958271A>G | CA369862774 | KCNH2 | n.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 |
7 | g.150958271A>T | CA369862771 | KCNH2 | n.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) | |
7 | g.150958272C>A | CA369862776 | KCNH2 | n.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 |
7 | g.150958272C>G | CA072022 | KCNH2 | n.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) | |
7 | g.150958272C>T | CA369862778 | KCNH2 | n.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 |
7 | g.150958273del | CA2685608085 | KCNH2 | n.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 |
7 | g.150958273C>A | CA458872228 | KCNH2 | n.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 |
7 | g.150958273C= | CA1752418269 | KCNH2 | n.1535G= c.702G= (p.Leu234=) c.354G= (p.Leu118=) n.925G= c.402G= (p.Leu134=) c.552G= (p.Leu184=) c.525G= (p.Leu175=) | |
7 | g.150958273C>G | CA169081306 | KCNH2 | n.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 |
7 | g.150958273C>T | CA458872229 | KCNH2 | n.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 |
7 | g.150958274A>C | CA369862780 | KCNH2 | n.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) | |
7 | g.150958274A>G | CA369862782 | KCNH2 | n.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 |
7 | g.150958274A>T | CA369862784 | KCNH2 | n.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) | |
7 | g.150958275G>A | CA458872231 | KCNH2 | n.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 |
7 | g.150958275G>C | CA369862786 | KCNH2 | n.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) | |
7 | g.150958275G= | CA1752418273 | KCNH2 | n.1533C= c.700C= (p.Leu234=) c.352C= (p.Leu118=) n.923C= c.400C= (p.Leu134=) c.550C= (p.Leu184=) c.523C= (p.Leu175=) | |
7 | g.150958275G>T | CA369862788 | KCNH2 | n.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 |
7 | g.150958277_150958278del | CA071898 | KCNH2 | n.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?) | |
7 | g.150958277_150958282del | CA2499218807 | KCNH2 | n.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 |
7 | g.150958276C>A | CA458872232 | KCNH2 | n.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 |
7 | g.150958276C= | CA1752418277 | KCNH2 | n.1532G= c.699G= (p.Ala233=) c.351G= (p.Ala117=) n.922G= c.399G= (p.Ala133=) c.549G= (p.Ala183=) c.522G= (p.Ala174=) | |
7 | g.150958276C>G | CA458872233 | KCNH2 | n.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=) | |
7 | g.150958276C>T | CA458872234 | KCNH2 | n.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 |
7 | g.150958277G>A | CA369862789 | KCNH2 | n.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 |
7 | g.150958277G>C | CA369862791 | KCNH2 | n.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 |
7 | g.150958277G>T | CA369862793 | KCNH2 | n.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 |
7 | g.150958278C>A | CA040247 | KCNH2 | n.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 |
7 | g.150958278C= | CA1752418284 | KCNH2 | n.1530G= c.697G= (p.Ala233=) c.349G= (p.Ala117=) n.920G= c.397G= (p.Ala133=) c.547G= (p.Ala183=) c.520G= (p.Ala174=) | |
7 | g.150958278C>G | CA369862796 | KCNH2 | n.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 |
7 | g.150958278C>T | CA369862798 | KCNH2 | n.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 |
7 | g.150958279A= | CA1752418291 | KCNH2 | n.1529T= c.696T= (p.Arg232=) c.348T= (p.Arg116=) n.919T= c.396T= (p.Arg132=) c.546T= (p.Arg182=) c.519T= (p.Arg173=) | |
7 | g.150958279A>C | CA458872240 | KCNH2 | n.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=) | |
7 | g.150958279A>G | CA169081312 | KCNH2 | n.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 |
7 | g.150958279A>T | CA458872242 | KCNH2 | n.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=) | |
7 | g.150958280C>A | CA10587638 | KCNH2 | n.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 |
7 | g.150958280C= | CA1752418296 | KCNH2 | n.1528G= c.695G= (p.Arg232=) c.347G= (p.Arg116=) n.918G= c.395G= (p.Arg132=) c.545G= (p.Arg182=) c.518G= (p.Arg173=) | |
7 | g.150958280C>G | CA169081316 | KCNH2 | n.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 |
7 | g.150958280C>T | CA369862800 | KCNH2 | n.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 |
7 | g.150958281G>A | CA169081320 | KCNH2 | n.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 |
7 | g.150958281G>C | CA369862805 | KCNH2 | n.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 |
7 | g.150958281G= | CA1752418302 | KCNH2 | n.1527C= c.694C= (p.Arg232=) c.346C= (p.Arg116=) n.917C= c.394C= (p.Arg132=) c.544C= (p.Arg182=) c.517C= (p.Arg173=) | |
7 | g.150958281G>T | CA369862806 | KCNH2 | n.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 |
7 | g.150958282C>A | CA458872262 | KCNH2 | n.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 |
7 | g.150958282C= | CA1752418307 | KCNH2 | n.1526G= c.693G= (p.Arg231=) c.345G= (p.Arg115=) n.916G= c.393G= (p.Arg131=) c.543G= (p.Arg181=) c.516G= (p.Arg172=) | |
7 | g.150958282C>G | CA458872256 | KCNH2 | n.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 |
7 | g.150958282C>T | CA458872258 | KCNH2 | n.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 |
7 | g.150958283dup | CA2685608114 | KCNH2 | n.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 |
7 | g.150958283C>A | CA369862808 | KCNH2 | n.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 |
7 | g.150958283C= | CA1752418310 | KCNH2 | n.1525G= c.692G= (p.Arg231=) c.344G= (p.Arg115=) n.915G= c.392G= (p.Arg131=) c.542G= (p.Arg181=) c.515G= (p.Arg172=) | |
7 | g.150958283C>G | CA369862810 | KCNH2 | n.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) | |
7 | g.150958283C>T | CA369862812 | KCNH2 | n.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 |
7 | g.150958284G>A | CA369862814 | KCNH2 | n.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 |
7 | g.150958284G>C | CA369862816 | KCNH2 | n.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) | |
7 | g.150958284G= | CA1752418317 | KCNH2 | n.1524C= c.691C= (p.Arg231=) c.343C= (p.Arg115=) n.914C= c.391C= (p.Arg131=) c.541C= (p.Arg181=) c.514C= (p.Arg172=) | |
7 | g.150958284G>T | CA458872268 | KCNH2 | n.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 |
7 | g.150958284_150958285delinsAA | CA916080380 | KCNH2 | n.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 |
7 | g.150958284_150958285delinsGC | CA1752418315 | KCNH2 | n.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=) | |
7 | g.150958285C>A | CA071891 | KCNH2 | n.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 |
7 | g.150958285C= | CA1752418320 | KCNH2 | n.1523G= c.690G= (p.Glu230=) c.342G= (p.Glu114=) n.913G= c.390G= (p.Glu130=) c.540G= (p.Glu180=) c.513G= (p.Glu171=) | |
7 | g.150958285C>G | CA369862818 | KCNH2 | n.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) | |
7 | g.150958285C>T | CA040234 | KCNH2 | n.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 |
7 | g.150958286T>A | CA369862821 | KCNH2 | n.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 |
7 | g.150958286T>C | CA369862823 | KCNH2 | n.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 |
7 | g.150958286T>G | CA369862824 | KCNH2 | n.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) | |
7 | g.150958287C>A | CA369862828 | KCNH2 | n.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 |
7 | g.150958287C>G | CA369862830 | KCNH2 | n.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) | |
7 | g.150958287C>T | CA369862826 | KCNH2 | n.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 |
7 | g.150958288C>A | CA369862831 | KCNH2 | n.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 |
7 | g.150958288C= | CA1752418325 | KCNH2 | n.1520G= c.687G= (p.Glu229=) c.339G= (p.Glu113=) n.910G= c.387G= (p.Glu129=) c.537G= (p.Glu179=) c.510G= (p.Glu170=) | |
7 | g.150958288C>G | CA369862832 | KCNH2 | n.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) | |
7 | g.150958288C>T | CA071997 | KCNH2 | n.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 |
7 | g.150958289T>A | CA369862834 | KCNH2 | n.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) | |
7 | g.150958289T>C | CA071886 | KCNH2 | n.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 |
7 | g.150958289T>G | CA369862836 | KCNH2 | n.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) | |
7 | g.150958290C>A | CA008681 | KCNH2 | n.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 |
7 | g.150958290C= | CA1752418328 | KCNH2 | n.1518G= c.685G= (p.Glu229=) c.337G= (p.Glu113=) n.908G= c.385G= (p.Glu129=) c.535G= (p.Glu179=) c.508G= (p.Glu170=) | |
7 | g.150958290C>G | CA369862841 | KCNH2 | n.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) | |
7 | g.150958290C>T | CA369862839 | KCNH2 | n.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 |
7 | g.150958298_150958372del | CA2685608128 | KCNH2 | n.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 |
7 | g.150958291C>A | CA458872292 | KCNH2 | n.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 |
7 | g.150958291C= | CA1752418333 | KCNH2 | n.1517G= c.684G= (p.Ala228=) c.336G= (p.Ala112=) n.907G= c.384G= (p.Ala128=) c.534G= (p.Ala178=) c.507G= (p.Ala169=) | |
7 | g.150958291C>G | CA458872293 | KCNH2 | n.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 |
7 | g.150958291C>T | CA458872294 | KCNH2 | n.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 |
7 | g.150958292G>A | CA369862842 | KCNH2 | n.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 |
7 | g.150958292G>C | CA369862846 | KCNH2 | n.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) | |
7 | g.150958292G= | CA1752418338 | KCNH2 | n.1516C= c.683C= (p.Ala228=) c.335C= (p.Ala112=) n.906C= c.383C= (p.Ala128=) c.533C= (p.Ala178=) c.506C= (p.Ala169=) | |
7 | g.150958292G>T | CA369862844 | KCNH2 | n.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 |
7 | g.150958293C>A | CA369862848 | KCNH2 | n.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 |
7 | g.150958293C= | CA1752418341 | KCNH2 | n.1515G= c.682G= (p.Ala228=) c.334G= (p.Ala112=) n.905G= c.382G= (p.Ala128=) c.532G= (p.Ala178=) c.505G= (p.Ala169=) | |
7 | g.150958293C>G | CA071880 | KCNH2 | n.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 |
7 | g.150958293C>T | CA071994 | KCNH2 | n.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 |
7 | g.150958294G>A | CA458872303 | KCNH2 | n.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 |
7 | g.150958294G>C | CA458872304 | KCNH2 | n.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 |
7 | g.150958294G= | CA1752418347 | KCNH2 | n.1514C= c.681C= (p.Pro227=) c.333C= (p.Pro111=) n.904C= c.381C= (p.Pro127=) c.531C= (p.Pro177=) c.504C= (p.Pro168=) | |
7 | g.150958294G>T | CA458872307 | KCNH2 | n.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 |
7 | g.150958296del | CA2685608157 | KCNH2 | n.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 |
7 | g.150958295G>A | CA369862851 | KCNH2 | n.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 |
7 | g.150958295G>C | CA369862852 | KCNH2 | n.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 |
7 | g.150958295G= | CA1752418352 | KCNH2 | n.1513C= c.680C= (p.Pro227=) c.332C= (p.Pro111=) n.903C= c.380C= (p.Pro127=) c.530C= (p.Pro177=) c.503C= (p.Pro168=) | |
7 | g.150958295G>T | CA369862854 | KCNH2 | n.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 |
7 | g.150958296G>A | CA369862857 | KCNH2 | n.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 |
7 | g.150958296G>C | CA369862858 | KCNH2 | n.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 |
7 | g.150958296G= | CA1752418357 | KCNH2 | n.1512C= c.679C= (p.Pro227=) c.331C= (p.Pro111=) n.902C= c.379C= (p.Pro127=) c.529C= (p.Pro177=) c.502C= (p.Pro168=) | |
7 | g.150958296G>T | CA169081336 | KCNH2 | n.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 |
7 | g.150958296_150958297delinsGC | CA1752418356 | KCNH2 | n.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=) | |
7 | g.150958297C>A | CA458872313 | KCNH2 | n.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 |
7 | g.150958297C= | CA1752418362 | KCNH2 | n.1511G= c.678G= (p.Gly226=) c.330G= (p.Gly110=) n.901G= c.378G= (p.Gly126=) c.528G= (p.Gly176=) c.501G= (p.Gly167=) | |
7 | g.150958297C>G | CA458872317 | KCNH2 | n.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=) | |
7 | g.150958297C>T | CA458872318 | KCNH2 | n.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 |
7 | g.150958299del | CA008674 | KCNH2 | n.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 |
7 | g.150958298C>A | CA369862862 | KCNH2 | n.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 |
7 | g.150958298C= | CA1752418365 | KCNH2 | n.1510G= c.677G= (p.Gly226=) c.329G= (p.Gly110=) n.900G= c.377G= (p.Gly126=) c.527G= (p.Gly176=) c.500G= (p.Gly167=) | |
7 | g.150958298C>G | CA369862864 | KCNH2 | n.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 |
7 | g.150958298C>T | CA169081346 | KCNH2 | n.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 |
7 | g.150958299C>A | CA369862870 | KCNH2 | n.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 |
7 | g.150958299C>G | CA369862868 | KCNH2 | n.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 |
7 | g.150958299C>T | CA369862866 | KCNH2 | n.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 |
7 | g.150958300G>A | CA040219 | KCNH2 | n.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 |
7 | g.150958300G>C | CA10628486 | KCNH2 | n.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 |
7 | g.150958300G= | CA1752418369 | KCNH2 | n.1508C= c.675C= (p.Leu225=) c.327C= (p.Leu109=) n.898C= c.375C= (p.Leu125=) c.525C= (p.Leu175=) c.498C= (p.Leu166=) | |
7 | g.150958300G>T | CA458872327 | KCNH2 | n.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 |
7 | g.150958301A>C | CA369862874 | KCNH2 | n.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) | |
7 | g.150958301A>G | CA369862876 | KCNH2 | n.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 |
7 | g.150958301A>T | CA369862877 | KCNH2 | n.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 |
7 | g.150958302G>A | CA369862880 | KCNH2 | n.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 |
7 | g.150958302G>C | CA369862881 | KCNH2 | n.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 |
7 | g.150958302G>T | CA369862883 | KCNH2 | n.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 |
7 | g.150958303C>A | CA071875 | KCNH2 | n.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 |
7 | g.150958303C>G | CA458872341 | KCNH2 | n.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 |
7 | g.150958303C>T | CA071871 | KCNH2 | n.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 |
7 | g.150958304C>A | CA369862885 | KCNH2 | n.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 |
7 | g.150958304C= | CA1752418376 | KCNH2 | n.1504G= c.671G= (p.Gly224=) c.323G= (p.Gly108=) n.894G= c.371G= (p.Gly124=) c.521G= (p.Gly174=) c.494G= (p.Gly165=) | |
7 | g.150958304C>G | CA369862887 | KCNH2 | n.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) | |
7 | g.150958304C>T | CA369862888 | KCNH2 | n.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 |
7 | g.150958306_150958309del | CA2739278349 | KCNH2 | n.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 |
7 | g.150958305C>A | CA369862891 | KCNH2 | n.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 |
7 | g.150958305C= | CA1752418382 | KCNH2 | n.1503G= c.670G= (p.Gly224=) c.322G= (p.Gly108=) n.893G= c.370G= (p.Gly124=) c.520G= (p.Gly174=) c.493G= (p.Gly165=) | |
7 | g.150958305C>G | CA369862893 | KCNH2 | n.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 |
7 | g.150958305C>T | CA008669 | KCNH2 | n.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 |
7 | g.150958305_150958310delinsCTGCCA | CA1752418379 | KCNH2 | n.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=) | |
7 | g.150958306del | CA2499218809 | KCNH2 | n.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 |
7 | g.150958306T>A | CA458872353 | KCNH2 | n.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 |
7 | g.150958306T>C | CA458872354 | KCNH2 | n.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 |
7 | g.150958306T>G | CA458872355 | KCNH2 | n.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=) | |
7 | g.150958306_150958310delinsG | CA645294046 | KCNH2 | n.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 |
7 | g.150958307del | CA2685608227 | KCNH2 | n.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 |
7 | g.150958307G>A | CA369862895 | KCNH2 | n.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 |
7 | g.150958307G>C | CA369862896 | KCNH2 | n.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 |
7 | g.150958307G>T | CA369862897 | KCNH2 | n.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 |
7 | g.150958308C>A | CA369862900 | KCNH2 | n.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 |
7 | g.150958308C= | CA1752418388 | KCNH2 | n.1500G= c.667G= (p.Ala223=) c.319G= (p.Ala107=) n.890G= c.367G= (p.Ala123=) c.517G= (p.Ala173=) c.490G= (p.Ala164=) | |
7 | g.150958308C>G | CA040202 | KCNH2 | n.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 |
7 | g.150958308C>T | CA369862902 | KCNH2 | n.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 |
7 | g.150958309C>A | CA458872357 | KCNH2 | n.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 |
7 | g.150958309C>G | CA458872362 | KCNH2 | n.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=) | |
7 | g.150958309C>T | CA458872360 | KCNH2 | n.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 |
7 | g.150958310A>C | CA369862904 | KCNH2 | n.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) | |
7 | g.150958310A>G | CA369862906 | KCNH2 | n.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 |
7 | g.150958310A>T | CA369862908 | KCNH2 | n.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) | |
7 | g.150958311C>A | CA071906 | KCNH2 | n.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 |
7 | g.150958311C= | CA1752418391 | KCNH2 | n.1497G= c.664G= (p.Val222=) c.316G= (p.Val106=) n.887G= c.364G= (p.Val122=) c.514G= (p.Val172=) c.487G= (p.Val163=) | |
7 | g.150958311C>G | CA369862910 | KCNH2 | n.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 |
7 | g.150958311C>T | CA369862912 | KCNH2 | n.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 |
7 | g.150958312G>A | CA071984 | KCNH2 | n.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 |
7 | g.150958312G>C | CA369862914 | KCNH2 | n.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 |
7 | g.150958312G= | CA1752418394 | KCNH2 | n.1496C= c.663C= (p.His221=) c.315C= (p.His105=) n.886C= c.363C= (p.His121=) c.513C= (p.His171=) c.486C= (p.His162=) | |
7 | g.150958312G>T | CA040187 | KCNH2 | n.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 |
7 | g.150958313T>A | CA369862916 | KCNH2 | n.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 |
7 | g.150958313T>C | CA369862918 | KCNH2 | n.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 |
7 | g.150958313T>G | CA369862919 | KCNH2 | n.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) | |
7 | g.150958314G>A | CA369862923 | KCNH2 | n.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 |
7 | g.150958314G>C | CA369862924 | KCNH2 | n.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 |
7 | g.150958314G= | CA1752418398 | KCNH2 | n.1494C= c.661C= (p.His221=) c.313C= (p.His105=) n.884C= c.361C= (p.His121=) c.511C= (p.His171=) c.484C= (p.His162=) | |
7 | g.150958314G>T | CA369862925 | KCNH2 | n.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 |
7 | g.150958315G>A | CA458872378 | KCNH2 | n.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 |
7 | g.150958315G>C | CA369862927 | KCNH2 | n.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 |
7 | g.150958315G>T | CA369862929 | KCNH2 | n.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 |
7 | g.150958316T>A | CA369862931 | KCNH2 | n.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 |
7 | g.150958316T>C | CA369862933 | KCNH2 | n.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 |
7 | g.150958316T>G | CA369862935 | KCNH2 | n.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) | |
7 | g.150958317del | CA2697549698 | KCNH2 | n.1492del c.659del (p.Asn220ThrfsTer?) c.311del (p.Asn104ThrfsTer?) n.882del c.359del (p.Asn120ThrfsTer?) c.509del (p.Asn170ThrfsTer?) c.482del (p.Asn161ThrfsTer?) | ClinVar |
7 | g.150958317T>A | CA369862937 | KCNH2 | n.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 |
7 | g.150958317T>C | CA369862939 | KCNH2 | n.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 |
7 | g.150958317T>G | CA369862941 | KCNH2 | n.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) | |
7 | g.150958318del | CA2685608280 | KCNH2 | n.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 |
7 | g.150958318G>A | CA458872389 | KCNH2 | n.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 |
7 | g.150958318G>C | CA369862943 | KCNH2 | n.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) | |
7 | g.150958318G= | CA1752418400 | KCNH2 | n.1490C= c.657C= (p.Asp219=) c.309C= (p.Asp103=) n.880C= c.357C= (p.Asp119=) c.507C= (p.Asp169=) c.480C= (p.Asp160=) | |
7 | g.150958318G>T | CA369862944 | KCNH2 | n.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 |
7 | g.150958319T>A | CA008651 | KCNH2 | n.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 |
7 | g.150958319T>C | CA369862949 | KCNH2 | n.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 |
7 | g.150958319T>G | CA369862947 | KCNH2 | n.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) | |
7 | g.150958319T= | CA1752418404 | KCNH2 | n.1489A= c.656A= (p.Asp219=) c.308A= (p.Asp103=) n.879A= c.356A= (p.Asp119=) c.506A= (p.Asp169=) c.479A= (p.Asp160=) | |
7 | g.150958320C>A | CA369862951 | KCNH2 | n.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 |
7 | g.150958320C= | CA1752418409 | KCNH2 | n.1488G= c.655G= (p.Asp219=) c.307G= (p.Asp103=) n.878G= c.355G= (p.Asp119=) c.505G= (p.Asp169=) c.478G= (p.Asp160=) | |
7 | g.150958320C>G | CA369862953 | KCNH2 | n.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 |
7 | g.150958320C>T | CA369862954 | KCNH2 | n.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 |
7 | g.150958321del | CA458872397 | KCNH2 | n.1488del c.655del (p.Asp219ThrfsTer?) c.307del (p.Asp103ThrfsTer?) n.878del c.355del (p.Asp119ThrfsTer?) c.505del (p.Asp169ThrfsTer?) c.478del (p.Asp160ThrfsTer?) | COSMIC |
7 | g.150958321C>A | CA369862956 | KCNH2 | n.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 |
7 | g.150958321C= | CA1752418417 | KCNH2 | n.1487G= c.654G= (p.Met218=) c.306G= (p.Met102=) n.877G= c.354G= (p.Met118=) c.504G= (p.Met168=) c.477G= (p.Met159=) | |
7 | g.150958321C>G | CA369862957 | KCNH2 | n.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 |
7 | g.150958321C>T | CA369862959 | KCNH2 | n.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 |
7 | g.150958322A>C | CA369862961 | KCNH2 | n.1486T>G c.653T>G (p.Met218Arg) c.305T>G (p.Met102Arg) n.876T>G c.353T>G (p.Met118Arg) c.503T>G (p.Met168Arg) c.476T>G (p.Met159Arg) | |
7 | g.150958322A>G | CA369862962 | KCNH2 | n.1486T>C c.653T>C (p.Met218Thr) c.305T>C (p.Met102Thr) n.876T>C c.353T>C (p.Met118Thr) c.503T>C (p.Met168Thr) c.476T>C (p.Met159Thr) | gnomAD v4 |
7 | g.150958322A>T | CA369862963 | KCNH2 | n.1486T>A c.653T>A (p.Met218Lys) c.305T>A (p.Met102Lys) n.876T>A c.353T>A (p.Met118Lys) c.503T>A (p.Met168Lys) c.476T>A (p.Met159Lys) | gnomAD v4 |
7 | g.150958323T>A | CA369862965 | KCNH2 | n.1485A>T c.652A>T (p.Met218Leu) c.304A>T (p.Met102Leu) n.875A>T c.352A>T (p.Met118Leu) c.502A>T (p.Met168Leu) c.475A>T (p.Met159Leu) | |
7 | g.150958323T>C | CA008645 | KCNH2 | n.1485A>G c.652A>G (p.Met218Val) c.304A>G (p.Met102Val) n.875A>G c.352A>G (p.Met118Val) c.502A>G (p.Met168Val) c.475A>G (p.Met159Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150958323T>G | CA369862968 | KCNH2 | n.1485A>C c.652A>C (p.Met218Leu) c.304A>C (p.Met102Leu) n.875A>C c.352A>C (p.Met118Leu) c.502A>C (p.Met168Leu) c.475A>C (p.Met159Leu) | |
7 | g.150958323T= | CA1752418421 | KCNH2 | n.1485A= c.652A= (p.Met218=) c.304A= (p.Met102=) n.875A= c.352A= (p.Met118=) c.502A= (p.Met168=) c.475A= (p.Met159=) | |
7 | g.150958324G>A | CA458646519 | KCNH2 | n.1484C>T c.651C>T (p.Ala217=) c.303C>T (p.Ala101=) n.874C>T c.351C>T (p.Ala117=) c.501C>T (p.Ala167=) c.474C>T (p.Ala158=) | dbSNP gnomAD v4 |
7 | g.150958324G>C | CA458646521 | KCNH2 | n.1484C>G c.651C>G (p.Ala217=) c.303C>G (p.Ala101=) n.874C>G c.351C>G (p.Ala117=) c.501C>G (p.Ala167=) c.474C>G (p.Ala158=) | gnomAD v4 |
7 | g.150958324G= | CA1752418427 | KCNH2 | n.1484C= c.651C= (p.Ala217=) c.303C= (p.Ala101=) n.874C= c.351C= (p.Ala117=) c.501C= (p.Ala167=) c.474C= (p.Ala158=) | |
7 | g.150958324G>T | CA458646523 | KCNH2 | n.1484C>A c.651C>A (p.Ala217=) c.303C>A (p.Ala101=) n.874C>A c.351C>A (p.Ala117=) c.501C>A (p.Ala167=) c.474C>A (p.Ala158=) | gnomAD v4 |
7 | g.150958324_150958325insAT | CA2567370311 | KCNH2 | n.1483_1484insAT c.650_651insAT (p.Met218SerfsTer?) c.302_303insAT (p.Met102SerfsTer?) n.873_874insAT c.350_351insAT (p.Met118SerfsTer?) c.500_501insAT (p.Met168SerfsTer?) c.473_474insAT (p.Met159SerfsTer?) | gnomAD v4 |
7 | g.150958325G>A | CA369862970 | KCNH2 | n.1483C>T c.650C>T (p.Ala217Val) c.302C>T (p.Ala101Val) n.873C>T c.350C>T (p.Ala117Val) c.500C>T (p.Ala167Val) c.473C>T (p.Ala158Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150958325G>C | CA369862973 | KCNH2 | n.1483C>G c.650C>G (p.Ala217Gly) c.302C>G (p.Ala101Gly) n.873C>G c.350C>G (p.Ala117Gly) c.500C>G (p.Ala167Gly) c.473C>G (p.Ala158Gly) | gnomAD v4 |
7 | g.150958325G= | CA1752418429 | KCNH2 | n.1483C= c.650C= (p.Ala217=) c.302C= (p.Ala101=) n.873C= c.350C= (p.Ala117=) c.500C= (p.Ala167=) c.473C= (p.Ala158=) | |
7 | g.150958325G>T | CA369862971 | KCNH2 | n.1483C>A c.650C>A (p.Ala217Asp) c.302C>A (p.Ala101Asp) n.873C>A c.350C>A (p.Ala117Asp) c.500C>A (p.Ala167Asp) c.473C>A (p.Ala158Asp) | ClinVar gnomAD v4 |
7 | g.150958326C>A | CA369862975 | KCNH2 | n.1482G>T c.649G>T (p.Ala217Ser) c.301G>T (p.Ala101Ser) n.872G>T c.349G>T (p.Ala117Ser) c.499G>T (p.Ala167Ser) c.472G>T (p.Ala158Ser) | gnomAD v4 |
7 | g.150958326C>G | CA369862976 | KCNH2 | n.1482G>C c.649G>C (p.Ala217Pro) c.301G>C (p.Ala101Pro) n.872G>C c.349G>C (p.Ala117Pro) c.499G>C (p.Ala167Pro) c.472G>C (p.Ala158Pro) | gnomAD v4 |
7 | g.150958326C>T | CA369862978 | KCNH2 | n.1482G>A c.649G>A (p.Ala217Thr) c.301G>A (p.Ala101Thr) n.872G>A c.349G>A (p.Ala117Thr) c.499G>A (p.Ala167Thr) c.472G>A (p.Ala158Thr) | gnomAD v4 |
7 | g.150958326_150958327del | CA2546923698 | KCNH2 | n.1481_1482del c.648_649del (p.Ala217HisfsTer?) c.300_301del (p.Ala101HisfsTer?) n.871_872del c.348_349del (p.Ala117HisfsTer?) c.498_499del (p.Ala167HisfsTer?) c.471_472del (p.Ala158HisfsTer?) | gnomAD v4 |
7 | g.150958327del | CA2685608307 | KCNH2 | n.1481del c.648del (p.Ala217ProfsTer?) c.300del (p.Ala101ProfsTer?) n.871del c.348del (p.Ala117ProfsTer?) c.498del (p.Ala167ProfsTer?) c.471del (p.Ala158ProfsTer?) | gnomAD v4 |
7 | g.150958327T>A | CA458646529 | KCNH2 | n.1481A>T c.648A>T (p.Thr216=) c.300A>T (p.Thr100=) n.871A>T c.348A>T (p.Thr116=) c.498A>T (p.Thr166=) c.471A>T (p.Thr157=) | |
7 | g.150958327T>C | CA458646531 | KCNH2 | n.1481A>G c.648A>G (p.Thr216=) c.300A>G (p.Thr100=) n.871A>G c.348A>G (p.Thr116=) c.498A>G (p.Thr166=) c.471A>G (p.Thr157=) | gnomAD v4 |
7 | g.150958327T>G | CA458646532 | KCNH2 | n.1481A>C c.648A>C (p.Thr216=) c.300A>C (p.Thr100=) n.871A>C c.348A>C (p.Thr116=) c.498A>C (p.Thr166=) c.471A>C (p.Thr157=) | gnomAD v4 |