| 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.150947357_150947402del | CA2695208778 | KCNH2 | n.3912_3957del c.3079_3124del (p.Leu1027TrpfsTer15) c.2059_2104del (p.Leu687TrpfsTer15) c.2779_2824del (p.Leu927TrpfsTer15) c.2929_2974del (p.Leu977TrpfsTer15) c.2902_2947del (p.Leu968TrpfsTer15) | |
| 7 | g.150947369_150947388del | CA2695208780 | KCNH2 | n.3927_3946del c.3094_3113del (p.Arg1032GlyfsTer?) c.2074_2093del (p.Arg692GlyfsTer?) c.2794_2813del (p.Arg932GlyfsTer?) c.2944_2963del (p.Arg982GlyfsTer?) c.2917_2936del (p.Arg973GlyfsTer?) | |
| 7 | g.150947370_150947383dup | CA2685601816 | KCNH2 | n.3932_3945dup c.3099_3112dup (p.Val1038GlyfsTer24) c.2079_2092dup (p.Val698GlyfsTer24) c.2799_2812dup (p.Val938GlyfsTer24) c.2949_2962dup (p.Val988GlyfsTer24) c.2922_2935dup (p.Val979GlyfsTer24) | gnomAD v4 |
| 7 | g.150947370_150947383del | CA16618397 | KCNH2 | n.3932_3945del c.3099_3112del (p.Pro1034GlyfsTer?) c.2079_2092del (p.Pro694GlyfsTer?) c.2799_2812del (p.Pro934GlyfsTer?) c.2949_2962del (p.Pro984GlyfsTer?) c.2922_2935del (p.Pro975GlyfsTer?) | ClinVar dbSNP |
| 7 | g.150947370_150947386del | CA658761307 | KCNH2 | n.3929_3945del c.3096_3112del (p.Arg1033GlyfsTer?) c.2076_2092del (p.Arg693GlyfsTer?) c.2796_2812del (p.Arg933GlyfsTer?) c.2946_2962del (p.Arg983GlyfsTer?) c.2919_2935del (p.Arg974GlyfsTer?) | |
| 7 | g.150947368_150947403del | CA2685601817 | KCNH2 | n.3910_3945del c.3077_3112del (p.Pro1026_Val1038delinsLeu) c.2057_2092del (p.Pro686_Val698delinsLeu) c.2777_2812del (p.Pro926_Val938delinsLeu) c.2927_2962del (p.Pro976_Val988delinsLeu) c.2900_2935del (p.Pro967_Val979delinsLeu) | dbSNP gnomAD v4 |
| 7 | g.150947375_150947385dup | CA16612298 | KCNH2 | n.3932_3942dup c.3099_3109dup (p.Asp1037GlyfsTer24) c.2079_2089dup (p.Asp697GlyfsTer24) c.2799_2809dup (p.Asp937GlyfsTer24) c.2949_2959dup (p.Asp987GlyfsTer24) c.2922_2932dup (p.Asp978GlyfsTer24) | ClinVar dbSNP |
| 7 | g.150947375_150947385del | CA007922 | KCNH2 | n.3932_3942del c.3099_3109del (p.Pro1034ArgfsTer?) c.2079_2089del (p.Pro694ArgfsTer?) c.2799_2809del (p.Pro934ArgfsTer?) c.2949_2959del (p.Pro984ArgfsTer?) c.2922_2932del (p.Pro975ArgfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150947373_150947386del | CA2579062673 | KCNH2 | n.3929_3942del c.3096_3109del (p.Pro1034GlyfsTer?) c.2076_2089del (p.Pro694GlyfsTer?) c.2796_2809del (p.Pro934GlyfsTer?) c.2946_2959del (p.Pro984GlyfsTer?) c.2919_2932del (p.Pro975GlyfsTer?) | |
| 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.150947375_150947382del | CA2499218782 | KCNH2 | n.3934_3941del c.3101_3108del (p.Pro1034ArgfsTer?) c.2081_2088del (p.Pro694ArgfsTer?) c.2801_2808del (p.Pro934ArgfsTer?) c.2951_2958del (p.Pro984ArgfsTer?) c.2924_2931del (p.Pro975ArgfsTer?) | ClinVar dbSNP |
| 7 | g.150947373_150947385dup | CA658797028 | KCNH2 | n.3928_3940dup c.3095_3107dup (p.Asp1037AlafsTer?) c.2075_2087dup (p.Asp697AlafsTer?) c.2795_2807dup (p.Asp937AlafsTer?) c.2945_2957dup (p.Asp987AlafsTer?) c.2918_2930dup (p.Asp978AlafsTer?) | ClinVar dbSNP |
| 7 | g.150947373_150947387delinsCCCCGGGGCCGCCGA | CA1752428603 | KCNH2 | n.3926_3940delinsTCGGCGGCCCCGGGG c.3093_3107delinsTCGGCGGCCCCGGGG (p.Gly1031=) c.2073_2087delinsTCGGCGGCCCCGGGG (p.Gly691=) c.2793_2807delinsTCGGCGGCCCCGGGG (p.Gly931=) c.2943_2957delinsTCGGCGGCCCCGGGG (p.Gly981=) c.2916_2930delinsTCGGCGGCCCCGGGG (p.Gly972=) | |
| 7 | g.150947376_150947382dup | CA658656011 | KCNH2 | n.3933_3939dup c.3100_3106dup (p.Gly1036AlafsTer?) c.2080_2086dup (p.Gly696AlafsTer?) c.2800_2806dup (p.Gly936AlafsTer?) c.2950_2956dup (p.Gly986AlafsTer?) c.2923_2929dup (p.Gly977AlafsTer?) | ClinVar dbSNP |
| 7 | g.150947376_150947385dup | CA2499218783 | KCNH2 | n.3930_3939dup c.3097_3106dup (p.Gly1036AlafsTer?) c.2077_2086dup (p.Gly696AlafsTer?) c.2797_2806dup (p.Gly936AlafsTer?) c.2947_2956dup (p.Gly986AlafsTer?) c.2920_2929dup (p.Gly977AlafsTer?) | ClinVar dbSNP |
| 7 | g.150947380_150947393del | CA658761310 | KCNH2 | n.3926_3939del c.3093_3106del (p.Pro1034GlyfsTer?) c.2073_2086del (p.Pro694GlyfsTer?) c.2793_2806del (p.Pro934GlyfsTer?) c.2943_2956del (p.Pro984GlyfsTer?) c.2916_2929del (p.Pro975GlyfsTer?) | ClinVar dbSNP |
| 7 | g.150947378_150947386dup | CA2685601852 | KCNH2 | n.3930_3938dup c.3097_3105dup (p.Arg1035_Gly1036insArgProArg) c.2077_2085dup (p.Arg695_Gly696insArgProArg) c.2797_2805dup (p.Arg935_Gly936insArgProArg) c.2947_2955dup (p.Arg985_Gly986insArgProArg) c.2920_2928dup (p.Arg976_Gly977insArgProArg) | gnomAD v4 |
| 7 | g.150947375_150947388delinsGA | CA2580077706 | KCNH2 | n.3925_3938delinsTC c.3092_3105delinsTC (p.Gly1031_Arg1035delinsVal) c.2072_2085delinsTC (p.Gly691_Arg695delinsVal) c.2792_2805delinsTC (p.Gly931_Arg935delinsVal) c.2942_2955delinsTC (p.Gly981_Arg985delinsVal) c.2915_2928delinsTC (p.Gly972_Arg976delinsVal) | ClinVar |
| 7 | g.150947377_150947382delinsGGGGCC | CA1752428662 | KCNH2 | n.3931_3936delinsGGCCCC c.3098_3103delinsGGCCCC (p.Arg1033=) c.2078_2083delinsGGCCCC (p.Arg693=) c.2798_2803delinsGGCCCC (p.Arg933=) c.2948_2953delinsGGCCCC (p.Arg983=) c.2921_2926delinsGGCCCC (p.Arg974=) | |
| 7 | g.150947377_150947390delinsGGGGCCGCCGACCC | CA1752428663 | KCNH2 | n.3923_3936delinsGGGTCGGCGGCCCC c.3090_3103delinsGGGTCGGCGGCCCC (p.Pro1030=) c.2070_2083delinsGGGTCGGCGGCCCC (p.Pro690=) c.2790_2803delinsGGGTCGGCGGCCCC (p.Pro930=) c.2940_2953delinsGGGTCGGCGGCCCC (p.Pro980=) c.2913_2926delinsGGGTCGGCGGCCCC (p.Pro971=) | |
| 7 | g.150947379_150947383del | CA579075356 | KCNH2 | n.3931_3935del c.3098_3102del (p.Arg1033ProfsTer?) c.2078_2082del (p.Arg693ProfsTer?) c.2798_2802del (p.Arg933ProfsTer?) c.2948_2952del (p.Arg983ProfsTer?) c.2921_2925del (p.Arg974ProfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150947382_150947394del | CA658760375 | KCNH2 | n.3923_3935del c.3090_3102del (p.Arg1032AlafsTer21) c.2070_2082del (p.Arg692AlafsTer21) c.2790_2802del (p.Arg932AlafsTer21) c.2940_2952del (p.Arg982AlafsTer21) c.2913_2925del (p.Arg973AlafsTer21) | ClinVar dbSNP |
| 7 | g.150947380_150947383dup | CA2697557663 | KCNH2 | n.3931_3934dup c.3098_3101dup (p.Arg1035AlafsTer?) c.2078_2081dup (p.Arg695AlafsTer?) c.2798_2801dup (p.Arg935AlafsTer?) c.2948_2951dup (p.Arg985AlafsTer?) c.2921_2924dup (p.Arg976AlafsTer?) | ClinVar |
| 7 | g.150947384_150947385insGACGGCCGC | CA2573052837 | KCNH2 | n.3934_3935insGTCGCGGCC c.3101_3102insGTCGCGGCC (p.Pro1034_Arg1035insSerArgPro) c.2081_2082insGTCGCGGCC (p.Pro694_Arg695insSerArgPro) c.2801_2802insGTCGCGGCC (p.Pro934_Arg935insSerArgPro) c.2951_2952insGTCGCGGCC (p.Pro984_Arg985insSerArgPro) c.2924_2925insGTCGCGGCC (p.Pro975_Arg976insSerArgPro) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947379_150947389del | CA2695208787 | KCNH2 | n.3924_3934del c.3091_3101del (p.Gly1031ProfsTer?) c.2071_2081del (p.Gly691ProfsTer?) c.2791_2801del (p.Gly931ProfsTer?) c.2941_2951del (p.Gly981ProfsTer?) c.2914_2924del (p.Gly972ProfsTer?) | |
| 7 | g.150947384_150947386dup | CA16609793 | KCNH2 | n.3931_3933dup c.3098_3100dup (p.Arg1033_Pro1034insArg) c.2078_2080dup (p.Arg693_Pro694insArg) c.2798_2800dup (p.Arg933_Pro934insArg) c.2948_2950dup (p.Arg983_Pro984insArg) c.2921_2923dup (p.Arg974_Pro975insArg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947382dup | CA1139771242 | KCNH2 | n.3932dup c.3099dup (p.Pro1034AlafsTer?) c.2079dup (p.Pro694AlafsTer?) c.2799dup (p.Pro934AlafsTer?) c.2949dup (p.Pro984AlafsTer?) c.2922dup (p.Pro975AlafsTer?) | ClinVar |
| 7 | g.150947382del | CA16042677 | KCNH2 | n.3932del c.3099del (p.Arg1035GlyfsTer22) c.2079del (p.Arg695GlyfsTer22) c.2799del (p.Arg935GlyfsTer22) c.2949del (p.Arg985GlyfsTer22) c.2922del (p.Arg976GlyfsTer22) | ClinVar dbSNP |
| 7 | g.150947382_150947385dup | CA305336 | KCNH2 | n.3929_3932dup c.3096_3099dup (p.Pro1034AlafsTer?) c.2076_2079dup (p.Pro694AlafsTer?) c.2796_2799dup (p.Pro934AlafsTer?) c.2946_2949dup (p.Pro984AlafsTer?) c.2919_2922dup (p.Pro975AlafsTer?) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947381_150947385dup | CA10581150 | KCNH2 | n.3928_3932dup c.3095_3099dup (p.Pro1034GlyfsTer25) c.2075_2079dup (p.Pro694GlyfsTer25) c.2795_2799dup (p.Pro934GlyfsTer25) c.2945_2949dup (p.Pro984GlyfsTer25) c.2918_2922dup (p.Pro975GlyfsTer25) | ClinVar dbSNP |
| 7 | g.150947382_150947385del | CA2573141845 | KCNH2 | n.3929_3932del c.3096_3099del (p.Arg1033ProfsTer23) c.2076_2079del (p.Arg693ProfsTer23) c.2796_2799del (p.Arg933ProfsTer23) c.2946_2949del (p.Arg983ProfsTer23) c.2919_2922del (p.Arg974ProfsTer23) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947381_150947386delinsGCGA | CA2695208788 | KCNH2 | n.3927_3932delinsTCGC c.3094_3099delinsTCGC (p.Arg1032SerfsTer?) c.2074_2079delinsTCGC (p.Arg692SerfsTer?) c.2794_2799delinsTCGC (p.Arg932SerfsTer?) c.2944_2949delinsTCGC (p.Arg982SerfsTer?) c.2917_2922delinsTCGC (p.Arg973SerfsTer?) | |
| 7 | g.150947381_150947394del | CA2499218784 | KCNH2 | n.3919_3932del c.3086_3099del (p.Ser1029ThrfsTer?) c.2066_2079del (p.Ser689ThrfsTer?) c.2786_2799del (p.Ser929ThrfsTer?) c.2936_2949del (p.Ser979ThrfsTer?) c.2909_2922del (p.Ser970ThrfsTer?) | ClinVar dbSNP |
| 7 | g.150947382C>A | CA369852660 | KCNH2 | n.3931G>T c.3098G>T (p.Arg1033Leu) c.2078G>T (p.Arg693Leu) c.2798G>T (p.Arg933Leu) c.2948G>T (p.Arg983Leu) c.2921G>T (p.Arg974Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947382C= | CA1752428724 | KCNH2 | n.3931G= c.3098G= (p.Arg1033=) c.2078G= (p.Arg693=) c.2798G= (p.Arg933=) c.2948G= (p.Arg983=) c.2921G= (p.Arg974=) | |
| 7 | g.150947382C>G | CA369852662 | KCNH2 | n.3931G>C c.3098G>C (p.Arg1033Pro) c.2078G>C (p.Arg693Pro) c.2798G>C (p.Arg933Pro) c.2948G>C (p.Arg983Pro) c.2921G>C (p.Arg974Pro) | |
| 7 | g.150947382C>T | CA037004 | KCNH2 | n.3931G>A c.3098G>A (p.Arg1033Gln) c.2078G>A (p.Arg693Gln) c.2798G>A (p.Arg933Gln) c.2948G>A (p.Arg983Gln) c.2921G>A (p.Arg974Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947383_150947384dup | CA658656012 | KCNH2 | n.3930_3931dup c.3097_3098dup (p.Pro1034GlyfsTer24) c.2077_2078dup (p.Pro694GlyfsTer24) c.2797_2798dup (p.Pro934GlyfsTer24) c.2947_2948dup (p.Pro984GlyfsTer24) c.2920_2921dup (p.Pro975GlyfsTer24) | ClinVar dbSNP |
| 7 | g.150947383G>A | CA007914 | KCNH2 | n.3930C>T c.3097C>T (p.Arg1033Trp) c.2077C>T (p.Arg693Trp) c.2797C>T (p.Arg933Trp) c.2947C>T (p.Arg983Trp) c.2920C>T (p.Arg974Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150947383G>C | CA369852664 | KCNH2 | n.3930C>G c.3097C>G (p.Arg1033Gly) c.2077C>G (p.Arg693Gly) c.2797C>G (p.Arg933Gly) c.2947C>G (p.Arg983Gly) c.2920C>G (p.Arg974Gly) | |
| 7 | g.150947383G= | CA1752428736 | KCNH2 | n.3930C= c.3097C= (p.Arg1033=) c.2077C= (p.Arg693=) c.2797C= (p.Arg933=) c.2947C= (p.Arg983=) c.2920C= (p.Arg974=) | |
| 7 | g.150947383G>T | CA16605265 | KCNH2 | n.3930C>A c.3097C>A (p.Arg1033=) c.2077C>A (p.Arg693=) c.2797C>A (p.Arg933=) c.2947C>A (p.Arg983=) c.2920C>A (p.Arg974=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150947383dup | CA2695208789 | KCNH2 | n.3930dup c.3097dup (p.Arg1033ProfsTer?) c.2077dup (p.Arg693ProfsTer?) c.2797dup (p.Arg933ProfsTer?) c.2947dup (p.Arg983ProfsTer?) c.2920dup (p.Arg974ProfsTer?) | |
| 7 | g.150947383_150947384delinsAT | CA2739279285 | KCNH2 | n.3929_3930delinsAT c.3096_3097delinsAT (p.Arg1033Trp) c.2076_2077delinsAT (p.Arg693Trp) c.2796_2797delinsAT (p.Arg933Trp) c.2946_2947delinsAT (p.Arg983Trp) c.2919_2920delinsAT (p.Arg974Trp) | ClinVar |
| 7 | g.150947383_150947393delinsGCCGACCCGGG | CA1752428737 | KCNH2 | n.3920_3930delinsCCCGGGTCGGC c.3087_3097delinsCCCGGGTCGGC (p.Ser1029=) c.2067_2077delinsCCCGGGTCGGC (p.Ser689=) c.2787_2797delinsCCCGGGTCGGC (p.Ser929=) c.2937_2947delinsCCCGGGTCGGC (p.Ser979=) c.2910_2920delinsCCCGGGTCGGC (p.Ser970=) | |
| 7 | g.150947384C>A | CA458644849 | KCNH2 | n.3929G>T c.3096G>T (p.Arg1032=) c.2076G>T (p.Arg692=) c.2796G>T (p.Arg932=) c.2946G>T (p.Arg982=) c.2919G>T (p.Arg973=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.150947384C= | CA1752428754 | KCNH2 | n.3929G= c.3096G= (p.Arg1032=) c.2076G= (p.Arg692=) c.2796G= (p.Arg932=) c.2946G= (p.Arg982=) c.2919G= (p.Arg973=) | |
| 7 | g.150947384C>G | CA458644848 | KCNH2 | n.3929G>C c.3096G>C (p.Arg1032=) c.2076G>C (p.Arg692=) c.2796G>C (p.Arg932=) c.2946G>C (p.Arg982=) c.2919G>C (p.Arg973=) | |
| 7 | g.150947384C>T | CA458644847 | KCNH2 | n.3929G>A c.3096G>A (p.Arg1032=) c.2076G>A (p.Arg692=) c.2796G>A (p.Arg932=) c.2946G>A (p.Arg982=) c.2919G>A (p.Arg973=) | gnomAD v4 |