Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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 |