| 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.150947391_150947665dup | CA645372846 | KCNH2 | n.3740_3923dup c.2907_3090dup c.1887_2070dup c.2607_2790dup c.2757_2940dup c.2730_2913dup | ClinVar |
| 7 | g.150947665_150947666insGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCAC | CA916080377 | KCNH2 | n.3799_3800insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG c.2966_2967insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG c.1946_1947insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG c.2666_2667insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG c.*46_*47insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG c.2816_2817insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG c.2789_2790insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG | |
| 7 | g.150947624_150947631del | CA2739289495 | KCNH2 | n.3774_3781del c.2941_2948del (p.Ser981LeufsTer?) c.1921_1928del (p.Ser641LeufsTer?) c.2641_2648del (p.Ser881LeufsTer?) c.*21_*28del (n.*21_*28del) c.2791_2798del (p.Ser931LeufsTer?) c.2764_2771del (p.Ser922LeufsTer?) | |
| 7 | g.150947624_150947629delinsACAGGGGGT | CA2573141849 | KCNH2 | n.3775_3780delinsACCCCCTGT c.2942_2947delinsACCCCCTGT (p.Ser981_Thr983delinsAsnProLeuSer) c.1922_1927delinsACCCCCTGT (p.Ser641_Thr643delinsAsnProLeuSer) c.2642_2647delinsACCCCCTGT (p.Ser881_Thr883delinsAsnProLeuSer) c.*22_*27delinsACCCCCTGT (n.*22_*27delinsACCCCCTGT) c.2792_2797delinsACCCCCTGT (p.Ser931_Thr933delinsAsnProLeuSer) c.2765_2770delinsACCCCCTGT (p.Ser922_Thr924delinsAsnProLeuSer) | ClinVar dbSNP |
| 7 | g.150947631_150947633dup | CA2685602120 | KCNH2 | n.3774_3776dup c.2941_2943dup (p.Ser981_Asp982insSer) c.1921_1923dup (p.Ser641_Asp642insSer) c.2641_2643dup (p.Ser881_Asp882insSer) c.*21_*23dup (n.*21_*23dup) c.2791_2793dup (p.Ser931_Asp932insSer) c.2764_2766dup (p.Ser922_Asp923insSer) | gnomAD v4 |
| 7 | g.150947629del | CA2695208802 | KCNH2 | n.3775del c.2942del (p.Ser981ThrfsTer?) c.1922del (p.Ser641ThrfsTer?) c.2642del (p.Ser881ThrfsTer?) c.*22del (n.*22del) c.2792del (p.Ser931ThrfsTer?) c.2765del (p.Ser922ThrfsTer?) | |
| 7 | g.150947629C>A | CA369853084 | KCNH2 | n.3775G>T c.2942G>T (p.Ser981Ile) c.1922G>T (p.Ser641Ile) c.2642G>T (p.Ser881Ile) c.*22G>T (n.*22G>T) c.2792G>T (p.Ser931Ile) c.2765G>T (p.Ser922Ile) | |
| 7 | g.150947629C= | CA1752429813 | KCNH2 | n.3775G= c.2942G= (p.Ser981=) c.1922G= (p.Ser641=) c.2642G= (p.Ser881=) c.*22G= (n.*22G=) c.2792G= (p.Ser931=) c.2765G= (p.Ser922=) | |
| 7 | g.150947629C>G | CA369853082 | KCNH2 | n.3775G>C c.2942G>C (p.Ser981Thr) c.1922G>C (p.Ser641Thr) c.2642G>C (p.Ser881Thr) c.*22G>C (n.*22G>C) c.2792G>C (p.Ser931Thr) c.2765G>C (p.Ser922Thr) | dbSNP |
| 7 | g.150947629C>T | CA369853083 | KCNH2 | n.3775G>A c.2942G>A (p.Ser981Asn) c.1922G>A (p.Ser641Asn) c.2642G>A (p.Ser881Asn) c.*22G>A (n.*22G>A) c.2792G>A (p.Ser931Asn) c.2765G>A (p.Ser922Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947630T>A | CA369853085 | KCNH2 | n.3774A>T c.2941A>T (p.Ser981Cys) c.1921A>T (p.Ser641Cys) c.2641A>T (p.Ser881Cys) c.*21A>T (n.*21A>T) c.2791A>T (p.Ser931Cys) c.2764A>T (p.Ser922Cys) | |
| 7 | g.150947630T>C | CA007666 | KCNH2 | n.3774A>G c.2941A>G (p.Ser981Gly) c.1921A>G (p.Ser641Gly) c.2641A>G (p.Ser881Gly) c.*21A>G (n.*21A>G) c.2791A>G (p.Ser931Gly) c.2764A>G (p.Ser922Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947630T>G | CA369853086 | KCNH2 | n.3774A>C c.2941A>C (p.Ser981Arg) c.1921A>C (p.Ser641Arg) c.2641A>C (p.Ser881Arg) c.*21A>C (n.*21A>C) c.2791A>C (p.Ser931Arg) c.2764A>C (p.Ser922Arg) | |
| 7 | g.150947630T= | CA1752429817 | KCNH2 | n.3774A= c.2941A= (p.Ser981=) c.1921A= (p.Ser641=) c.2641A= (p.Ser881=) c.*21A= (n.*21A=) c.2791A= (p.Ser931=) c.2764A= (p.Ser922=) | |
| 7 | g.150947630_150947640dup | CA2573141850 | KCNH2 | n.3764_3774dup c.2931_2941dup (p.Ser981ThrfsTer?) c.1911_1921dup (p.Ser641ThrfsTer?) c.2631_2641dup (p.Ser881ThrfsTer?) c.*11_*21dup (n.*11_*21dup) c.2781_2791dup (p.Ser931ThrfsTer?) c.2754_2764dup (p.Ser922ThrfsTer?) | ClinVar dbSNP |
| 7 | g.150947631G>A | CA458870789 | KCNH2 | n.3773C>T c.2940C>T (p.Ser980=) c.1920C>T (p.Ser640=) c.2640C>T (p.Ser880=) c.*20C>T (n.*20C>T) c.2790C>T (p.Ser930=) c.2763C>T (p.Ser921=) | |
| 7 | g.150947631G>C | CA369853087 | KCNH2 | n.3773C>G c.2940C>G (p.Ser980Arg) c.1920C>G (p.Ser640Arg) c.2640C>G (p.Ser880Arg) c.*20C>G (n.*20C>G) c.2790C>G (p.Ser930Arg) c.2763C>G (p.Ser921Arg) | gnomAD v4 |
| 7 | g.150947631G>T | CA369853088 | KCNH2 | n.3773C>A c.2940C>A (p.Ser980Arg) c.1920C>A (p.Ser640Arg) c.2640C>A (p.Ser880Arg) c.*20C>A (n.*20C>A) c.2790C>A (p.Ser930Arg) c.2763C>A (p.Ser921Arg) | |
| 7 | g.150947631_150947636delinsGCTCTT | CA1752429825 | KCNH2 | n.3768_3773delinsAAGAGC c.2935_2940delinsAAGAGC (p.Lys979=) c.1915_1920delinsAAGAGC (p.Lys639=) c.2635_2640delinsAAGAGC (p.Lys879=) c.*15_*20delinsAAGAGC (n.*15_*20delinsAAGAGC) c.2785_2790delinsAAGAGC (p.Lys929=) c.2758_2763delinsAAGAGC (p.Lys920=) | |
| 7 | g.150947632C>A | CA369853091 | KCNH2 | n.3772G>T c.2939G>T (p.Ser980Ile) c.1919G>T (p.Ser640Ile) c.2639G>T (p.Ser880Ile) c.*19G>T (n.*19G>T) c.2789G>T (p.Ser930Ile) c.2762G>T (p.Ser921Ile) | |
| 7 | g.150947632C>G | CA369853089 | KCNH2 | n.3772G>C c.2939G>C (p.Ser980Thr) c.1919G>C (p.Ser640Thr) c.2639G>C (p.Ser880Thr) c.*19G>C (n.*19G>C) c.2789G>C (p.Ser930Thr) c.2762G>C (p.Ser921Thr) | |
| 7 | g.150947632C>T | CA369853090 | KCNH2 | n.3772G>A c.2939G>A (p.Ser980Asn) c.1919G>A (p.Ser640Asn) c.2639G>A (p.Ser880Asn) c.*19G>A (n.*19G>A) c.2789G>A (p.Ser930Asn) c.2762G>A (p.Ser921Asn) | |
| 7 | g.150947635_150947639del | CA645372845 | KCNH2 | n.3768_3772del c.2935_2939del (p.Lys979GlnfsTer?) c.1915_1919del (p.Lys639GlnfsTer?) c.2635_2639del (p.Lys879GlnfsTer?) c.*15_*19del (n.*15_*19del) c.2785_2789del (p.Lys929GlnfsTer?) c.2758_2762del (p.Lys920GlnfsTer?) | ClinVar dbSNP |
| 7 | g.150947633T>A | CA369853092 | KCNH2 | n.3771A>T c.2938A>T (p.Ser980Cys) c.1918A>T (p.Ser640Cys) c.2638A>T (p.Ser880Cys) c.*18A>T (n.*18A>T) c.2788A>T (p.Ser930Cys) c.2761A>T (p.Ser921Cys) | |
| 7 | g.150947633T>C | CA369853093 | KCNH2 | n.3771A>G c.2938A>G (p.Ser980Gly) c.1918A>G (p.Ser640Gly) c.2638A>G (p.Ser880Gly) c.*18A>G (n.*18A>G) c.2788A>G (p.Ser930Gly) c.2761A>G (p.Ser921Gly) | |
| 7 | g.150947633T>G | CA369853094 | KCNH2 | n.3771A>C c.2938A>C (p.Ser980Arg) c.1918A>C (p.Ser640Arg) c.2638A>C (p.Ser880Arg) c.*18A>C (n.*18A>C) c.2788A>C (p.Ser930Arg) c.2761A>C (p.Ser921Arg) | |
| 7 | g.150947634C>A | CA369853095 | KCNH2 | n.3770G>T c.2937G>T (p.Lys979Asn) c.1917G>T (p.Lys639Asn) c.2637G>T (p.Lys879Asn) c.*17G>T (n.*17G>T) c.2787G>T (p.Lys929Asn) c.2760G>T (p.Lys920Asn) | gnomAD v4 |
| 7 | g.150947634C>G | CA369853096 | KCNH2 | n.3770G>C c.2937G>C (p.Lys979Asn) c.1917G>C (p.Lys639Asn) c.2637G>C (p.Lys879Asn) c.*17G>C (n.*17G>C) c.2787G>C (p.Lys929Asn) c.2760G>C (p.Lys920Asn) | |
| 7 | g.150947634C>T | CA458870793 | KCNH2 | n.3770G>A c.2937G>A (p.Lys979=) c.1917G>A (p.Lys639=) c.2637G>A (p.Lys879=) c.*17G>A (n.*17G>A) c.2787G>A (p.Lys929=) c.2760G>A (p.Lys920=) | ClinVar dbSNP |
| 7 | g.150947635T>A | CA369853097 | KCNH2 | n.3769A>T c.2936A>T (p.Lys979Met) c.1916A>T (p.Lys639Met) c.2636A>T (p.Lys879Met) c.*16A>T (n.*16A>T) c.2786A>T (p.Lys929Met) c.2759A>T (p.Lys920Met) | |
| 7 | g.150947635T>C | CA035523 | KCNH2 | n.3769A>G c.2936A>G (p.Lys979Arg) c.1916A>G (p.Lys639Arg) c.2636A>G (p.Lys879Arg) c.*16A>G (n.*16A>G) c.2786A>G (p.Lys929Arg) c.2759A>G (p.Lys920Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150947635T>G | CA369853098 | KCNH2 | n.3769A>C c.2936A>C (p.Lys979Thr) c.1916A>C (p.Lys639Thr) c.2636A>C (p.Lys879Thr) c.*16A>C (n.*16A>C) c.2786A>C (p.Lys929Thr) c.2759A>C (p.Lys920Thr) | |
| 7 | g.150947635T= | CA1752429832 | KCNH2 | n.3769A= c.2936A= (p.Lys979=) c.1916A= (p.Lys639=) c.2636A= (p.Lys879=) c.*16A= (n.*16A=) c.2786A= (p.Lys929=) c.2759A= (p.Lys920=) | |
| 7 | g.150947636T>A | CA369853099 | KCNH2 | n.3768A>T c.2935A>T (p.Lys979Ter) c.1915A>T (p.Lys639Ter) c.2635A>T (p.Lys879Ter) c.*15A>T (n.*15A>T) c.2785A>T (p.Lys929Ter) c.2758A>T (p.Lys920Ter) | |
| 7 | g.150947636T>C | CA369853100 | KCNH2 | n.3768A>G c.2935A>G (p.Lys979Glu) c.1915A>G (p.Lys639Glu) c.2635A>G (p.Lys879Glu) c.*15A>G (n.*15A>G) c.2785A>G (p.Lys929Glu) c.2758A>G (p.Lys920Glu) | |
| 7 | g.150947636T>G | CA369853101 | KCNH2 | n.3768A>C c.2935A>C (p.Lys979Gln) c.1915A>C (p.Lys639Gln) c.2635A>C (p.Lys879Gln) c.*15A>C (n.*15A>C) c.2785A>C (p.Lys929Gln) c.2758A>C (p.Lys920Gln) | |
| 7 | g.150947637C>A | CA369853102 | KCNH2 | n.3767G>T c.2934G>T (p.Glu978Asp) c.1914G>T (p.Glu638Asp) c.2634G>T (p.Glu878Asp) c.*14G>T (n.*14G>T) c.2784G>T (p.Glu928Asp) c.2757G>T (p.Glu919Asp) | gnomAD v4 |
| 7 | g.150947637C>G | CA369853103 | KCNH2 | n.3767G>C c.2934G>C (p.Glu978Asp) c.1914G>C (p.Glu638Asp) c.2634G>C (p.Glu878Asp) c.*14G>C (n.*14G>C) c.2784G>C (p.Glu928Asp) c.2757G>C (p.Glu919Asp) | |
| 7 | g.150947637C>T | CA458870808 | KCNH2 | n.3767G>A c.2934G>A (p.Glu978=) c.1914G>A (p.Glu638=) c.2634G>A (p.Glu878=) c.*14G>A (n.*14G>A) c.2784G>A (p.Glu928=) c.2757G>A (p.Glu919=) | ClinVar dbSNP |
| 7 | g.150947638T>A | CA369853106 | KCNH2 | n.3766A>T c.2933A>T (p.Glu978Val) c.1913A>T (p.Glu638Val) c.2633A>T (p.Glu878Val) c.*13A>T (n.*13A>T) c.2783A>T (p.Glu928Val) c.2756A>T (p.Glu919Val) | |
| 7 | g.150947638T>C | CA369853104 | KCNH2 | n.3766A>G c.2933A>G (p.Glu978Gly) c.1913A>G (p.Glu638Gly) c.2633A>G (p.Glu878Gly) c.*13A>G (n.*13A>G) c.2783A>G (p.Glu928Gly) c.2756A>G (p.Glu919Gly) | |
| 7 | g.150947638T>G | CA369853105 | KCNH2 | n.3766A>C c.2933A>C (p.Glu978Ala) c.1913A>C (p.Glu638Ala) c.2633A>C (p.Glu878Ala) c.*13A>C (n.*13A>C) c.2783A>C (p.Glu928Ala) c.2756A>C (p.Glu919Ala) | |
| 7 | g.150947639C>A | CA007657 | KCNH2 | n.3765G>T c.2932G>T (p.Glu978Ter) c.1912G>T (p.Glu638Ter) c.2632G>T (p.Glu878Ter) c.*12G>T (n.*12G>T) c.2782G>T (p.Glu928Ter) c.2755G>T (p.Glu919Ter) | ClinVar dbSNP |
| 7 | g.150947639C= | CA1752429842 | KCNH2 | n.3765G= c.2932G= (p.Glu978=) c.1912G= (p.Glu638=) c.2632G= (p.Glu878=) c.*12G= (n.*12G=) c.2782G= (p.Glu928=) c.2755G= (p.Glu919=) | |
| 7 | g.150947639C>G | CA369853107 | KCNH2 | n.3765G>C c.2932G>C (p.Glu978Gln) c.1912G>C (p.Glu638Gln) c.2632G>C (p.Glu878Gln) c.*12G>C (n.*12G>C) c.2782G>C (p.Glu928Gln) c.2755G>C (p.Glu919Gln) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947639C>T | CA007646 | KCNH2 | n.3765G>A c.2932G>A (p.Glu978Lys) c.1912G>A (p.Glu638Lys) c.2632G>A (p.Glu878Lys) c.*12G>A (n.*12G>A) c.2782G>A (p.Glu928Lys) c.2755G>A (p.Glu919Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947640G>A | CA035488 | KCNH2 | n.3764C>T c.2931C>T (p.Cys977=) c.1911C>T (p.Cys637=) c.2631C>T (p.Cys877=) c.*11C>T (n.*11C>T) c.2781C>T (p.Cys927=) c.2754C>T (p.Cys918=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947640G>C | CA369853108 | KCNH2 | n.3764C>G c.2931C>G (p.Cys977Trp) c.1911C>G (p.Cys637Trp) c.2631C>G (p.Cys877Trp) c.*11C>G (n.*11C>G) c.2781C>G (p.Cys927Trp) c.2754C>G (p.Cys918Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |