Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150947163_150948277del | CA1139660328 | KCNH2 | n.3525+167_3986-109del c.2692+167_3153-109del c.1672+167_2133-109del c.2392+167_2853-109del c.2542+167_3003-109del c.2515+167_2976-109del | ClinVar |
7 | g.150947372_150953685dup | CA2580614280 | KCNH2 | n.1962-831_3942dup c.1129-831_3109dup c.109-831_2089dup c.829-831_2809dup c.979-831_2959dup c.952-831_2932dup | |
7 | g.150947703_150947704insCTCCAGGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGC | CA2499218788 | KCNH2 | n.3764_3765insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC c.2931_2932insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu978LeufsTer?) c.1911_1912insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu638LeufsTer?) c.2631_2632insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu878LeufsTer?) c.*11_*12insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC c.2781_2782insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu928LeufsTer?) c.2754_2755insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu919LeufsTer?) | ClinVar |
7 | g.150947670_150947680del | CA658761317 | KCNH2 | n.3728_3738del c.2895_2905del (p.Glu966TrpfsTer?) c.1875_1885del (p.Glu626TrpfsTer?) c.2595_2605del (p.Glu866TrpfsTer?) c.2708_2718del (p.Glu903GlyfsTer?) c.2745_2755del (p.Glu916TrpfsTer?) c.2718_2728del (p.Glu907TrpfsTer?) | |
7 | g.150947678_150947679delinsCG | CA1752430008 | KCNH2 | n.3725_3726delinsCG c.2892_2893delinsCG (p.Pro964=) c.1872_1873delinsCG (p.Pro624=) c.2592_2593delinsCG (p.Pro864=) c.2705_2706delinsCG (p.Pro902=) c.2742_2743delinsCG (p.Pro914=) c.2715_2716delinsCG (p.Pro905=) | |
7 | g.150947679G>A | CA035253 | KCNH2 | n.3725C>T c.2892C>T (p.Pro964=) c.1872C>T (p.Pro624=) c.2592C>T (p.Pro864=) c.2705C>T (p.Pro902Leu) c.2742C>T (p.Pro914=) c.2715C>T (p.Pro905=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.150947679G>C | CA035233 | KCNH2 | n.3725C>G c.2892C>G (p.Pro964=) c.1872C>G (p.Pro624=) c.2592C>G (p.Pro864=) c.2705C>G (p.Pro902Arg) c.2742C>G (p.Pro914=) c.2715C>G (p.Pro905=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150947679G= | CA1752430021 | KCNH2 | n.3725C= c.2892C= (p.Pro964=) c.1872C= (p.Pro624=) c.2592C= (p.Pro864=) c.2705C= (p.Pro902=) c.2742C= (p.Pro914=) c.2715C= (p.Pro905=) | |
7 | g.150947679G>T | CA458870917 | KCNH2 | n.3725C>A c.2892C>A (p.Pro964=) c.1872C>A (p.Pro624=) c.2592C>A (p.Pro864=) c.2705C>A (p.Pro902Gln) c.2742C>A (p.Pro914=) c.2715C>A (p.Pro905=) | gnomAD v4 |
7 | g.150947684dup | CA305331 | KCNH2 | n.3725dup c.2892dup (p.Gly965ArgfsTer?) c.1872dup (p.Gly625ArgfsTer?) c.2592dup (p.Gly865ArgfsTer?) c.2705dup (p.Glu903GlyfsTer?) c.2742dup (p.Gly915ArgfsTer?) c.2715dup (p.Gly906ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947683_150947684dup | CA2695208804 | KCNH2 | n.3724_3725dup c.2891_2892dup (p.Gly965ProfsTer10) c.1871_1872dup (p.Gly625ProfsTer10) c.2591_2592dup (p.Gly865ProfsTer10) c.2704_2705dup (p.Glu903ArgfsTer?) c.2741_2742dup (p.Gly915ProfsTer10) c.2714_2715dup (p.Gly906ProfsTer10) | |
7 | g.150947684del | CA16618400 | KCNH2 | n.3725del c.2892del (p.Gly965GlufsTer9) c.1872del (p.Gly625GlufsTer9) c.2592del (p.Gly865GlufsTer9) c.2705del (p.Pro902ArgfsTer?) c.2742del (p.Gly915GlufsTer9) c.2715del (p.Gly906GlufsTer9) | ClinVar dbSNP gnomAD v4 COSMIC |
7 | g.150947680G>A | CA369853188 | KCNH2 | n.3724C>T c.2891C>T (p.Pro964Leu) c.1871C>T (p.Pro624Leu) c.2591C>T (p.Pro864Leu) c.2704C>T (p.Pro902Ser) c.2741C>T (p.Pro914Leu) c.2714C>T (p.Pro905Leu) | ClinVar dbSNP |
7 | g.150947680G>C | CA169072486 | KCNH2 | n.3724C>G c.2891C>G (p.Pro964Arg) c.1871C>G (p.Pro624Arg) c.2591C>G (p.Pro864Arg) c.2704C>G (p.Pro902Ala) c.2741C>G (p.Pro914Arg) c.2714C>G (p.Pro905Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.150947680G= | CA1752430028 | KCNH2 | n.3724C= c.2891C= (p.Pro964=) c.1871C= (p.Pro624=) c.2591C= (p.Pro864=) c.2704C= (p.Pro902=) c.2741C= (p.Pro914=) c.2714C= (p.Pro905=) | |
7 | g.150947680G>T | CA369853189 | KCNH2 | n.3724C>A c.2891C>A (p.Pro964His) c.1871C>A (p.Pro624His) c.2591C>A (p.Pro864His) c.2704C>A (p.Pro902Thr) c.2741C>A (p.Pro914His) c.2714C>A (p.Pro905His) | |
7 | g.150947681G>A | CA369853190 | KCNH2 | n.3723C>T c.2890C>T (p.Pro964Ser) c.1870C>T (p.Pro624Ser) c.2590C>T (p.Pro864Ser) c.2703C>T (p.Pro901=) c.2740C>T (p.Pro914Ser) c.2713C>T (p.Pro905Ser) | |
7 | g.150947681G>C | CA10628480 | KCNH2 | n.3723C>G c.2890C>G (p.Pro964Ala) c.1870C>G (p.Pro624Ala) c.2590C>G (p.Pro864Ala) c.2703C>G (p.Pro901=) c.2740C>G (p.Pro914Ala) c.2713C>G (p.Pro905Ala) | ClinVar dbSNP |
7 | g.150947681G= | CA1752430032 | KCNH2 | n.3723C= c.2890C= (p.Pro964=) c.1870C= (p.Pro624=) c.2590C= (p.Pro864=) c.2703C= (p.Pro901=) c.2740C= (p.Pro914=) c.2713C= (p.Pro905=) | |
7 | g.150947681G>T | CA369853191 | KCNH2 | n.3723C>A c.2890C>A (p.Pro964Thr) c.1870C>A (p.Pro624Thr) c.2590C>A (p.Pro864Thr) c.2703C>A (p.Pro901=) c.2740C>A (p.Pro914Thr) c.2713C>A (p.Pro905Thr) | |
7 | g.150947682G>A | CA035208 | KCNH2 | n.3722C>T c.2889C>T (p.Pro963=) c.1869C>T (p.Pro623=) c.2589C>T (p.Pro863=) c.2702C>T (p.Pro901Leu) c.2739C>T (p.Pro913=) c.2712C>T (p.Pro904=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150947682G>C | CA458870923 | KCNH2 | n.3722C>G c.2889C>G (p.Pro963=) c.1869C>G (p.Pro623=) c.2589C>G (p.Pro863=) c.2702C>G (p.Pro901Arg) c.2739C>G (p.Pro913=) c.2712C>G (p.Pro904=) | ClinVar dbSNP |
7 | g.150947682G= | CA1752430038 | KCNH2 | n.3722C= c.2889C= (p.Pro963=) c.1869C= (p.Pro623=) c.2589C= (p.Pro863=) c.2702C= (p.Pro901=) c.2739C= (p.Pro913=) c.2712C= (p.Pro904=) | |
7 | g.150947682G>T | CA458870924 | KCNH2 | n.3722C>A c.2889C>A (p.Pro963=) c.1869C>A (p.Pro623=) c.2589C>A (p.Pro863=) c.2702C>A (p.Pro901His) c.2739C>A (p.Pro913=) c.2712C>A (p.Pro904=) | ClinVar dbSNP |
7 | g.150947682_150947684delinsGGG | CA1752430044 | KCNH2 | n.3720_3722delinsCCC c.2887_2889delinsCCC (p.Pro963=) c.1867_1869delinsCCC (p.Pro623=) c.2587_2589delinsCCC (p.Pro863=) c.2700_2702delinsCCC (p.Gly900=) c.2737_2739delinsCCC (p.Pro913=) c.2710_2712delinsCCC (p.Pro904=) | |
7 | g.150947683G>A | CA369853192 | KCNH2 | n.3721C>T c.2888C>T (p.Pro963Leu) c.1868C>T (p.Pro623Leu) c.2588C>T (p.Pro863Leu) c.2701C>T (p.Pro901Ser) c.2738C>T (p.Pro913Leu) c.2711C>T (p.Pro904Leu) | ClinVar |
7 | g.150947683G>C | CA369853193 | KCNH2 | n.3721C>G c.2888C>G (p.Pro963Arg) c.1868C>G (p.Pro623Arg) c.2588C>G (p.Pro863Arg) c.2701C>G (p.Pro901Ala) c.2738C>G (p.Pro913Arg) c.2711C>G (p.Pro904Arg) | gnomAD v4 |
7 | g.150947683G>T | CA369853194 | KCNH2 | n.3721C>A c.2888C>A (p.Pro963His) c.1868C>A (p.Pro623His) c.2588C>A (p.Pro863His) c.2701C>A (p.Pro901Thr) c.2738C>A (p.Pro913His) c.2711C>A (p.Pro904His) | |
7 | g.150947683_150947684delinsT | CA16618401 | KCNH2 | n.3720_3721delinsA c.2887_2888delinsA (p.Pro963ThrfsTer11) c.1867_1868delinsA (p.Pro623ThrfsTer11) c.2587_2588delinsA (p.Pro863ThrfsTer11) c.2700_2701delinsA (p.Pro902ArgfsTer?) c.2737_2738delinsA (p.Pro913ThrfsTer11) c.2710_2711delinsA (p.Pro904ThrfsTer11) | ClinVar dbSNP |
7 | g.150947684G>A | CA369853195 | KCNH2 | n.3720C>T c.2887C>T (p.Pro963Ser) c.1867C>T (p.Pro623Ser) c.2587C>T (p.Pro863Ser) c.2700C>T (p.Gly900=) c.2737C>T (p.Pro913Ser) c.2710C>T (p.Pro904Ser) | gnomAD v4 |
7 | g.150947684G>C | CA369853196 | KCNH2 | n.3720C>G c.2887C>G (p.Pro963Ala) c.1867C>G (p.Pro623Ala) c.2587C>G (p.Pro863Ala) c.2700C>G (p.Gly900=) c.2737C>G (p.Pro913Ala) c.2710C>G (p.Pro904Ala) | gnomAD v4 |
7 | g.150947684G= | CA1752430055 | KCNH2 | n.3720C= c.2887C= (p.Pro963=) c.1867C= (p.Pro623=) c.2587C= (p.Pro863=) c.2700C= (p.Gly900=) c.2737C= (p.Pro913=) c.2710C= (p.Pro904=) | |
7 | g.150947684G>T | CA007577 | KCNH2 | n.3720C>A c.2887C>A (p.Pro963Thr) c.1867C>A (p.Pro623Thr) c.2587C>A (p.Pro863Thr) c.2700C>A (p.Gly900=) c.2737C>A (p.Pro913Thr) c.2710C>A (p.Pro904Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947685_150947688dup | CA2695199642 | KCNH2 | n.3717_3720dup c.2884_2887dup (p.Pro963GlnfsTer?) c.1864_1867dup (p.Pro623GlnfsTer?) c.2584_2587dup (p.Pro863GlnfsTer?) c.2697_2700dup (p.Pro901ArgfsTer?) c.2734_2737dup (p.Pro913GlnfsTer?) c.2707_2710dup (p.Pro904GlnfsTer?) | |
7 | g.150947685C>A | CA369853197 | KCNH2 | n.3719G>T c.2886G>T (p.Arg962Ser) c.1866G>T (p.Arg622Ser) c.2586G>T (p.Arg862Ser) c.2699G>T (p.Gly900Val) c.2736G>T (p.Arg912Ser) c.2709G>T (p.Arg903Ser) | |
7 | g.150947685C= | CA1752430061 | KCNH2 | n.3719G= c.2886G= (p.Arg962=) c.1866G= (p.Arg622=) c.2586G= (p.Arg862=) c.2699G= (p.Gly900=) c.2736G= (p.Arg912=) c.2709G= (p.Arg903=) | |
7 | g.150947685C>G | CA369853198 | KCNH2 | n.3719G>C c.2886G>C (p.Arg962Ser) c.1866G>C (p.Arg622Ser) c.2586G>C (p.Arg862Ser) c.2699G>C (p.Gly900Ala) c.2736G>C (p.Arg912Ser) c.2709G>C (p.Arg903Ser) | |
7 | g.150947685C>T | CA035174 | KCNH2 | n.3719G>A c.2886G>A (p.Arg962=) c.1866G>A (p.Arg622=) c.2586G>A (p.Arg862=) c.2699G>A (p.Gly900Asp) c.2736G>A (p.Arg912=) c.2709G>A (p.Arg903=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947686del | CA2695208805 | KCNH2 | n.3719del c.2886del (p.Arg962SerfsTer12) c.1866del (p.Arg622SerfsTer12) c.2586del (p.Arg862SerfsTer12) c.2699del (p.Gly900AlafsTer?) c.2736del (p.Arg912SerfsTer12) c.2709del (p.Arg903SerfsTer12) | |
7 | g.150947686C>A | CA369853199 | KCNH2 | n.3718G>T c.2885G>T (p.Arg962Met) c.1865G>T (p.Arg622Met) c.2585G>T (p.Arg862Met) c.2698G>T (p.Gly900Cys) c.2735G>T (p.Arg912Met) c.2708G>T (p.Arg903Met) | gnomAD v4 |
7 | g.150947686C>G | CA369853200 | KCNH2 | n.3718G>C c.2885G>C (p.Arg962Thr) c.1865G>C (p.Arg622Thr) c.2585G>C (p.Arg862Thr) c.2698G>C (p.Gly900Arg) c.2735G>C (p.Arg912Thr) c.2708G>C (p.Arg903Thr) | |
7 | g.150947686C>T | CA369853201 | KCNH2 | n.3718G>A c.2885G>A (p.Arg962Lys) c.1865G>A (p.Arg622Lys) c.2585G>A (p.Arg862Lys) c.2698G>A (p.Gly900Ser) c.2735G>A (p.Arg912Lys) c.2708G>A (p.Arg903Lys) | gnomAD v4 |
7 | g.150947687T>A | CA369853203 | KCNH2 | n.3717A>T c.2884A>T (p.Arg962Trp) c.1864A>T (p.Arg622Trp) c.2584A>T (p.Arg862Trp) c.2697A>T (p.Pro899=) c.2734A>T (p.Arg912Trp) c.2707A>T (p.Arg903Trp) | gnomAD v4 |
7 | g.150947687T>C | CA369853202 | KCNH2 | n.3717A>G c.2884A>G (p.Arg962Gly) c.1864A>G (p.Arg622Gly) c.2584A>G (p.Arg862Gly) c.2697A>G (p.Pro899=) c.2734A>G (p.Arg912Gly) c.2707A>G (p.Arg903Gly) | gnomAD v4 |
7 | g.150947687T>G | CA458870930 | KCNH2 | n.3717A>C c.2884A>C (p.Arg962=) c.1864A>C (p.Arg622=) c.2584A>C (p.Arg862=) c.2697A>C (p.Pro899=) c.2734A>C (p.Arg912=) c.2707A>C (p.Arg903=) | |
7 | g.150947688G>A | CA458870932 | KCNH2 | n.3716C>T c.2883C>T (p.Pro961=) c.1863C>T (p.Pro621=) c.2583C>T (p.Pro861=) c.2696C>T (p.Pro899Leu) c.2733C>T (p.Pro911=) c.2706C>T (p.Pro902=) | dbSNP |
7 | g.150947688G>C | CA458870933 | KCNH2 | n.3716C>G c.2883C>G (p.Pro961=) c.1863C>G (p.Pro621=) c.2583C>G (p.Pro861=) c.2696C>G (p.Pro899Arg) c.2733C>G (p.Pro911=) c.2706C>G (p.Pro902=) | |
7 | g.150947688G= | CA1752430062 | KCNH2 | n.3716C= c.2883C= (p.Pro961=) c.1863C= (p.Pro621=) c.2583C= (p.Pro861=) c.2696C= (p.Pro899=) c.2733C= (p.Pro911=) c.2706C= (p.Pro902=) | |
7 | g.150947688G>T | CA458870934 | KCNH2 | n.3716C>A c.2883C>A (p.Pro961=) c.1863C>A (p.Pro621=) c.2583C>A (p.Pro861=) c.2696C>A (p.Pro899Gln) c.2733C>A (p.Pro911=) c.2706C>A (p.Pro902=) | |
7 | g.150947691del | CA2685602123 | KCNH2 | n.3716del c.2883del (p.Arg962GlyfsTer12) c.1863del (p.Arg622GlyfsTer12) c.2583del (p.Arg862GlyfsTer12) c.2696del (p.Pro899GlnfsTer?) c.2733del (p.Arg912GlyfsTer12) c.2706del (p.Arg903GlyfsTer12) | gnomAD v4 |