| 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.150947623G>A | CA007674 | KCNH2 | n.3781C>T c.2948C>T (p.Thr983Ile) c.1928C>T (p.Thr643Ile) c.2648C>T (p.Thr883Ile) c.*28C>T (n.*28C>T) c.2798C>T (p.Thr933Ile) c.2771C>T (p.Thr924Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947623G>C | CA369853068 | KCNH2 | n.3781C>G c.2948C>G (p.Thr983Ser) c.1928C>G (p.Thr643Ser) c.2648C>G (p.Thr883Ser) c.*28C>G (n.*28C>G) c.2798C>G (p.Thr933Ser) c.2771C>G (p.Thr924Ser) | |
| 7 | g.150947623G= | CA1752429784 | KCNH2 | n.3781C= c.2948C= (p.Thr983=) c.1928C= (p.Thr643=) c.2648C= (p.Thr883=) c.*28C= (n.*28C=) c.2798C= (p.Thr933=) c.2771C= (p.Thr924=) | |
| 7 | g.150947623G>T | CA369853069 | KCNH2 | n.3781C>A c.2948C>A (p.Thr983Asn) c.1928C>A (p.Thr643Asn) c.2648C>A (p.Thr883Asn) c.*28C>A (n.*28C>A) c.2798C>A (p.Thr933Asn) c.2771C>A (p.Thr924Asn) | |
| 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.150947624T>A | CA369853070 | KCNH2 | n.3780A>T c.2947A>T (p.Thr983Ser) c.1927A>T (p.Thr643Ser) c.2647A>T (p.Thr883Ser) c.*27A>T (n.*27A>T) c.2797A>T (p.Thr933Ser) c.2770A>T (p.Thr924Ser) | |
| 7 | g.150947624T>C | CA369853071 | KCNH2 | n.3780A>G c.2947A>G (p.Thr983Ala) c.1927A>G (p.Thr643Ala) c.2647A>G (p.Thr883Ala) c.*27A>G (n.*27A>G) c.2797A>G (p.Thr933Ala) c.2770A>G (p.Thr924Ala) | gnomAD v4 |
| 7 | g.150947624T>G | CA369853072 | KCNH2 | n.3780A>C c.2947A>C (p.Thr983Pro) c.1927A>C (p.Thr643Pro) c.2647A>C (p.Thr883Pro) c.*27A>C (n.*27A>C) c.2797A>C (p.Thr933Pro) c.2770A>C (p.Thr924Pro) | |
| 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.150947625G>A | CA458870784 | KCNH2 | n.3779C>T c.2946C>T (p.Asp982=) c.1926C>T (p.Asp642=) c.2646C>T (p.Asp882=) c.*26C>T (n.*26C>T) c.2796C>T (p.Asp932=) c.2769C>T (p.Asp923=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150947625G>C | CA369853073 | KCNH2 | n.3779C>G c.2946C>G (p.Asp982Glu) c.1926C>G (p.Asp642Glu) c.2646C>G (p.Asp882Glu) c.*26C>G (n.*26C>G) c.2796C>G (p.Asp932Glu) c.2769C>G (p.Asp923Glu) | |
| 7 | g.150947625G= | CA1752429788 | KCNH2 | n.3779C= c.2946C= (p.Asp982=) c.1926C= (p.Asp642=) c.2646C= (p.Asp882=) c.*26C= (n.*26C=) c.2796C= (p.Asp932=) c.2769C= (p.Asp923=) | |
| 7 | g.150947625G>T | CA369853074 | KCNH2 | n.3779C>A c.2946C>A (p.Asp982Glu) c.1926C>A (p.Asp642Glu) c.2646C>A (p.Asp882Glu) c.*26C>A (n.*26C>A) c.2796C>A (p.Asp932Glu) c.2769C>A (p.Asp923Glu) | |
| 7 | g.150947626_150947628del | CA2685602119 | KCNH2 | n.3777_3779del c.2944_2946del (p.Asp982del) c.1924_1926del (p.Asp642del) c.2644_2646del (p.Asp882del) c.*24_*26del (n.*24_*26del) c.2794_2796del (p.Asp932del) c.2767_2769del (p.Asp923del) | gnomAD v4 |
| 7 | g.150947626T>A | CA369853075 | KCNH2 | n.3778A>T c.2945A>T (p.Asp982Val) c.1925A>T (p.Asp642Val) c.2645A>T (p.Asp882Val) c.*25A>T (n.*25A>T) c.2795A>T (p.Asp932Val) c.2768A>T (p.Asp923Val) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150947626T>C | CA369853077 | KCNH2 | n.3778A>G c.2945A>G (p.Asp982Gly) c.1925A>G (p.Asp642Gly) c.2645A>G (p.Asp882Gly) c.*25A>G (n.*25A>G) c.2795A>G (p.Asp932Gly) c.2768A>G (p.Asp923Gly) | |
| 7 | g.150947626T>G | CA369853076 | KCNH2 | n.3778A>C c.2945A>C (p.Asp982Ala) c.1925A>C (p.Asp642Ala) c.2645A>C (p.Asp882Ala) c.*25A>C (n.*25A>C) c.2795A>C (p.Asp932Ala) c.2768A>C (p.Asp923Ala) | |
| 7 | g.150947626T= | CA1752429791 | KCNH2 | n.3778A= c.2945A= (p.Asp982=) c.1925A= (p.Asp642=) c.2645A= (p.Asp882=) c.*25A= (n.*25A=) c.2795A= (p.Asp932=) c.2768A= (p.Asp923=) | |
| 7 | g.150947627C>A | CA369853078 | KCNH2 | n.3777G>T c.2944G>T (p.Asp982Tyr) c.1924G>T (p.Asp642Tyr) c.2644G>T (p.Asp882Tyr) c.*24G>T (n.*24G>T) c.2794G>T (p.Asp932Tyr) c.2767G>T (p.Asp923Tyr) | |
| 7 | g.150947627C= | CA1752429795 | KCNH2 | n.3777G= c.2944G= (p.Asp982=) c.1924G= (p.Asp642=) c.2644G= (p.Asp882=) c.*24G= (n.*24G=) c.2794G= (p.Asp932=) c.2767G= (p.Asp923=) | |
| 7 | g.150947627C>G | CA369853079 | KCNH2 | n.3777G>C c.2944G>C (p.Asp982His) c.1924G>C (p.Asp642His) c.2644G>C (p.Asp882His) c.*24G>C (n.*24G>C) c.2794G>C (p.Asp932His) c.2767G>C (p.Asp923His) | gnomAD v4 |
| 7 | g.150947627C>T | CA035595 | KCNH2 | n.3777G>A c.2944G>A (p.Asp982Asn) c.1924G>A (p.Asp642Asn) c.2644G>A (p.Asp882Asn) c.*24G>A (n.*24G>A) c.2794G>A (p.Asp932Asn) c.2767G>A (p.Asp923Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947628G>A | CA035581 | KCNH2 | n.3776C>T c.2943C>T (p.Ser981=) c.1923C>T (p.Ser641=) c.2643C>T (p.Ser881=) c.*23C>T (n.*23C>T) c.2793C>T (p.Ser931=) c.2766C>T (p.Ser922=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.150947628G>C | CA369853080 | KCNH2 | n.3776C>G c.2943C>G (p.Ser981Arg) c.1923C>G (p.Ser641Arg) c.2643C>G (p.Ser881Arg) c.*23C>G (n.*23C>G) c.2793C>G (p.Ser931Arg) c.2766C>G (p.Ser922Arg) | dbSNP gnomAD v4 |
| 7 | g.150947628G= | CA1752429803 | KCNH2 | n.3776C= c.2943C= (p.Ser981=) c.1923C= (p.Ser641=) c.2643C= (p.Ser881=) c.*23C= (n.*23C=) c.2793C= (p.Ser931=) c.2766C= (p.Ser922=) | |
| 7 | g.150947628G>T | CA369853081 | KCNH2 | n.3776C>A c.2943C>A (p.Ser981Arg) c.1923C>A (p.Ser641Arg) c.2643C>A (p.Ser881Arg) c.*23C>A (n.*23C>A) c.2793C>A (p.Ser931Arg) c.2766C>A (p.Ser922Arg) | gnomAD v4 |
| 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) |