UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.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.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.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 |
| 7 | g.150947640G= | CA1752429855 | KCNH2 | n.3764C= c.2931C= (p.Cys977=) c.1911C= (p.Cys637=) c.2631C= (p.Cys877=) c.*11C= (n.*11C=) c.2781C= (p.Cys927=) c.2754C= (p.Cys918=) | |
| 7 | g.150947640G>T | CA369853109 | KCNH2 | n.3764C>A c.2931C>A (p.Cys977Ter) c.1911C>A (p.Cys637Ter) c.2631C>A (p.Cys877Ter) c.*11C>A (n.*11C>A) c.2781C>A (p.Cys927Ter) c.2754C>A (p.Cys918Ter) | ClinVar dbSNP |
| 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.150947641C>A | CA035467 | KCNH2 | n.3763G>T c.2930G>T (p.Cys977Phe) c.1910G>T (p.Cys637Phe) c.2630G>T (p.Cys877Phe) c.*10G>T (n.*10G>T) c.2780G>T (p.Cys927Phe) c.2753G>T (p.Cys918Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947641C= | CA1752429869 | KCNH2 | n.3763G= c.2930G= (p.Cys977=) c.1910G= (p.Cys637=) c.2630G= (p.Cys877=) c.*10G= (n.*10G=) c.2780G= (p.Cys927=) c.2753G= (p.Cys918=) | |
| 7 | g.150947641C>G | CA369853110 | KCNH2 | n.3763G>C c.2930G>C (p.Cys977Ser) c.1910G>C (p.Cys637Ser) c.2630G>C (p.Cys877Ser) c.*10G>C (n.*10G>C) c.2780G>C (p.Cys927Ser) c.2753G>C (p.Cys918Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150947641C>T | CA369853111 | KCNH2 | n.3763G>A c.2930G>A (p.Cys977Tyr) c.1910G>A (p.Cys637Tyr) c.2630G>A (p.Cys877Tyr) c.*10G>A (n.*10G>A) c.2780G>A (p.Cys927Tyr) c.2753G>A (p.Cys918Tyr) | |
| 7 | g.150947642A>C | CA369853112 | KCNH2 | n.3762T>G c.2929T>G (p.Cys977Gly) c.1909T>G (p.Cys637Gly) c.2629T>G (p.Cys877Gly) c.*9T>G (n.*9T>G) c.2779T>G (p.Cys927Gly) c.2752T>G (p.Cys918Gly) | gnomAD v4 |
| 7 | g.150947642A>G | CA369853113 | KCNH2 | n.3762T>C c.2929T>C (p.Cys977Arg) c.1909T>C (p.Cys637Arg) c.2629T>C (p.Cys877Arg) c.*9T>C (n.*9T>C) c.2779T>C (p.Cys927Arg) c.2752T>C (p.Cys918Arg) | gnomAD v4 |
| 7 | g.150947642A>T | CA369853114 | KCNH2 | n.3762T>A c.2929T>A (p.Cys977Ser) c.1909T>A (p.Cys637Ser) c.2629T>A (p.Cys877Ser) c.*9T>A (n.*9T>A) c.2779T>A (p.Cys927Ser) c.2752T>A (p.Cys918Ser) | |
| 7 | g.150947643G>A | CA458870822 | KCNH2 | n.3761C>T c.2928C>T (p.Asp976=) c.1908C>T (p.Asp636=) c.2628C>T (p.Asp876=) c.*8C>T (n.*8C>T) c.2778C>T (p.Asp926=) c.2751C>T (p.Asp917=) | |
| 7 | g.150947643G>C | CA369853115 | KCNH2 | n.3761C>G c.2928C>G (p.Asp976Glu) c.1908C>G (p.Asp636Glu) c.2628C>G (p.Asp876Glu) c.*8C>G (n.*8C>G) c.2778C>G (p.Asp926Glu) c.2751C>G (p.Asp917Glu) | |
| 7 | g.150947643G>T | CA369853116 | KCNH2 | n.3761C>A c.2928C>A (p.Asp976Glu) c.1908C>A (p.Asp636Glu) c.2628C>A (p.Asp876Glu) c.*8C>A (n.*8C>A) c.2778C>A (p.Asp926Glu) c.2751C>A (p.Asp917Glu) | |
| 7 | g.150947644del | CA16609637 | KCNH2 | n.3760del c.2927del (p.Asp976AlafsTer?) c.1907del (p.Asp636AlafsTer?) c.2627del (p.Asp876AlafsTer?) c.*7del (n.*7del) c.2777del (p.Asp926AlafsTer?) c.2750del (p.Asp917AlafsTer?) | ClinVar |
| 7 | g.150947644T>A | CA369853117 | KCNH2 | n.3760A>T c.2927A>T (p.Asp976Val) c.1907A>T (p.Asp636Val) c.2627A>T (p.Asp876Val) c.*7A>T (n.*7A>T) c.2777A>T (p.Asp926Val) c.2750A>T (p.Asp917Val) | |
| 7 | g.150947644T>C | CA369853119 | KCNH2 | n.3760A>G c.2927A>G (p.Asp976Gly) c.1907A>G (p.Asp636Gly) c.2627A>G (p.Asp876Gly) c.*7A>G (n.*7A>G) c.2777A>G (p.Asp926Gly) c.2750A>G (p.Asp917Gly) | |
| 7 | g.150947644T>G | CA369853118 | KCNH2 | n.3760A>C c.2927A>C (p.Asp976Ala) c.1907A>C (p.Asp636Ala) c.2627A>C (p.Asp876Ala) c.*7A>C (n.*7A>C) c.2777A>C (p.Asp926Ala) c.2750A>C (p.Asp917Ala) | |
| 7 | g.150947647_150947649del | CA2580614284 | KCNH2 | n.3758_3760del c.2925_2927del (p.Glu975del) c.1905_1907del (p.Glu635del) c.2625_2627del (p.Glu875del) c.*5_*7del (n.*5_*7del) c.2775_2777del (p.Glu925del) c.2748_2750del (p.Glu916del) | ClinVar |
| 7 | g.150947645C>A | CA369853120 | KCNH2 | n.3759G>T c.2926G>T (p.Asp976Tyr) c.1906G>T (p.Asp636Tyr) c.2626G>T (p.Asp876Tyr) c.*6G>T (n.*6G>T) c.2776G>T (p.Asp926Tyr) c.2749G>T (p.Asp917Tyr) | gnomAD v4 |
| 7 | g.150947645C= | CA1752429873 | KCNH2 | n.3759G= c.2926G= (p.Asp976=) c.1906G= (p.Asp636=) c.2626G= (p.Asp876=) c.*6G= (n.*6G=) c.2776G= (p.Asp926=) c.2749G= (p.Asp917=) | |
| 7 | g.150947645C>G | CA369853121 | KCNH2 | n.3759G>C c.2926G>C (p.Asp976His) c.1906G>C (p.Asp636His) c.2626G>C (p.Asp876His) c.*6G>C (n.*6G>C) c.2776G>C (p.Asp926His) c.2749G>C (p.Asp917His) | |
| 7 | g.150947645C>T | CA369853122 | KCNH2 | n.3759G>A c.2926G>A (p.Asp976Asn) c.1906G>A (p.Asp636Asn) c.2626G>A (p.Asp876Asn) c.*6G>A (n.*6G>A) c.2776G>A (p.Asp926Asn) c.2749G>A (p.Asp917Asn) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947646del | CA2579062861 | KCNH2 | n.3759del c.2926del (p.Asp976ThrfsTer?) c.1906del (p.Asp636ThrfsTer?) c.2626del (p.Asp876ThrfsTer?) c.*6del (n.*6del) c.2776del (p.Asp926ThrfsTer?) c.2749del (p.Asp917ThrfsTer?) | |
| 7 | g.150947646C>A | CA369853123 | KCNH2 | n.3758G>T c.2925G>T (p.Glu975Asp) c.1905G>T (p.Glu635Asp) c.2625G>T (p.Glu875Asp) c.*5G>T (n.*5G>T) c.2775G>T (p.Glu925Asp) c.2748G>T (p.Glu916Asp) | |
| 7 | g.150947646C= | CA1752429877 | KCNH2 | n.3758G= c.2925G= (p.Glu975=) c.1905G= (p.Glu635=) c.2625G= (p.Glu875=) c.*5G= (n.*5G=) c.2775G= (p.Glu925=) c.2748G= (p.Glu916=) | |
| 7 | g.150947646C>G | CA369853124 | KCNH2 | n.3758G>C c.2925G>C (p.Glu975Asp) c.1905G>C (p.Glu635Asp) c.2625G>C (p.Glu875Asp) c.*5G>C (n.*5G>C) c.2775G>C (p.Glu925Asp) c.2748G>C (p.Glu916Asp) | |
| 7 | g.150947646C>T | CA458870825 | KCNH2 | n.3758G>A c.2925G>A (p.Glu975=) c.1905G>A (p.Glu635=) c.2625G>A (p.Glu875=) c.*5G>A (n.*5G>A) c.2775G>A (p.Glu925=) c.2748G>A (p.Glu916=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947647T>A | CA369853125 | KCNH2 | n.3757A>T c.2924A>T (p.Glu975Val) c.1904A>T (p.Glu635Val) c.2624A>T (p.Glu875Val) c.*4A>T (n.*4A>T) c.2774A>T (p.Glu925Val) c.2747A>T (p.Glu916Val) | |
| 7 | g.150947647T>C | CA369853126 | KCNH2 | n.3757A>G c.2924A>G (p.Glu975Gly) c.1904A>G (p.Glu635Gly) c.2624A>G (p.Glu875Gly) c.*4A>G (n.*4A>G) c.2774A>G (p.Glu925Gly) c.2747A>G (p.Glu916Gly) | gnomAD v4 |
| 7 | g.150947647T>G | CA369853127 | KCNH2 | n.3757A>C c.2924A>C (p.Glu975Ala) c.1904A>C (p.Glu635Ala) c.2624A>C (p.Glu875Ala) c.*4A>C (n.*4A>C) c.2774A>C (p.Glu925Ala) c.2747A>C (p.Glu916Ala) | |
| 7 | g.150947648C>A | CA169072409 | KCNH2 | n.3756G>T c.2923G>T (p.Glu975Ter) c.1903G>T (p.Glu635Ter) c.2623G>T (p.Glu875Ter) c.*3G>T (n.*3G>T) c.2773G>T (p.Glu925Ter) c.2746G>T (p.Glu916Ter) | dbSNP |
| 7 | g.150947648C= | CA1752429880 | KCNH2 | n.3756G= c.2923G= (p.Glu975=) c.1903G= (p.Glu635=) c.2623G= (p.Glu875=) c.*3G= (n.*3G=) c.2773G= (p.Glu925=) c.2746G= (p.Glu916=) |