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.150947350_150947368delinsCATCCAGCCTGCTCTCCAC | CA1752428447 | KCNH2 | n.3945_3963delinsGTGGAGAGCAGGCTGGATG c.3112_3130delinsGTGGAGAGCAGGCTGGATG (p.Val1038=) c.2092_2110delinsGTGGAGAGCAGGCTGGATG (p.Val698=) c.2812_2830delinsGTGGAGAGCAGGCTGGATG (p.Val938=) c.2962_2980delinsGTGGAGAGCAGGCTGGATG (p.Val988=) c.2935_2953delinsGTGGAGAGCAGGCTGGATG (p.Val979=) | |
7 | g.150947351_150947368delinsTG | CA007983 | KCNH2 | n.3945_3962delinsCA c.3112_3129delinsCA (p.Val1038GlnfsTer14) c.2092_2109delinsCA (p.Val698GlnfsTer14) c.2812_2829delinsCA (p.Val938GlnfsTer14) c.2962_2979delinsCA (p.Val988GlnfsTer14) c.2935_2952delinsCA (p.Val979GlnfsTer14) | ClinVar dbSNP |
7 | g.150947352_150947373delinsTCCAGCCTGCTCTCCACGTCGC | CA1752428458 | KCNH2 | n.3940_3961delinsGCGACGTGGAGAGCAGGCTGGA c.3107_3128delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly1036=) c.2087_2108delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly696=) c.2807_2828delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly936=) c.2957_2978delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly986=) c.2930_2951delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly977=) | |
7 | g.150947355_150947375del | CA16612102 | KCNH2 | n.3940_3960del c.3107_3127del (p.Gly1036_Leu1042del) c.2087_2107del (p.Gly696_Leu702del) c.2807_2827del (p.Gly936_Leu942del) c.2957_2977del (p.Gly986_Leu992del) c.2930_2950del (p.Gly977_Leu983del) | ClinVar dbSNP |
7 | g.150947355_150947377del | CA2695208777 | KCNH2 | n.3936_3958del c.3103_3125del (p.Arg1035GlyfsTer?) c.2083_2105del (p.Arg695GlyfsTer?) c.2803_2825del (p.Arg935GlyfsTer?) c.2953_2975del (p.Arg985GlyfsTer?) c.2926_2948del (p.Arg976GlyfsTer?) | |
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.150947358_150947377delinsTGGA | CA2695208779 | KCNH2 | n.3936_3955delinsTCCA c.3103_3122delinsTCCA (p.Arg1035SerfsTer17) c.2083_2102delinsTCCA (p.Arg695SerfsTer17) c.2803_2822delinsTCCA (p.Arg935SerfsTer17) c.2953_2972delinsTCCA (p.Arg985SerfsTer17) c.2926_2945delinsTCCA (p.Arg976SerfsTer17) | |
7 | g.150947360_150947377delinsCCGCCGACCC | CA2580614279 | KCNH2 | n.3936_3953delinsGGGTCGGCGG c.3103_3120delinsGGGTCGGCGG (p.Arg1035GlyfsTer?) c.2083_2100delinsGGGTCGGCGG (p.Arg695GlyfsTer?) c.2803_2820delinsGGGTCGGCGG (p.Arg935GlyfsTer?) c.2953_2970delinsGGGTCGGCGG (p.Arg985GlyfsTer?) c.2926_2943delinsGGGTCGGCGG (p.Arg976GlyfsTer?) | ClinVar |
7 | g.150947366C>A | CA458644820 | KCNH2 | n.3947G>T c.3114G>T (p.Val1038=) c.2094G>T (p.Val698=) c.2814G>T (p.Val938=) c.2964G>T (p.Val988=) c.2937G>T (p.Val979=) | gnomAD v4 |
7 | g.150947366C>G | CA458644821 | KCNH2 | n.3947G>C c.3114G>C (p.Val1038=) c.2094G>C (p.Val698=) c.2814G>C (p.Val938=) c.2964G>C (p.Val988=) c.2937G>C (p.Val979=) | |
7 | g.150947366C>T | CA458644822 | KCNH2 | n.3947G>A c.3114G>A (p.Val1038=) c.2094G>A (p.Val698=) c.2814G>A (p.Val938=) c.2964G>A (p.Val988=) c.2937G>A (p.Val979=) | ClinVar |
7 | g.150947367A= | CA1752428506 | KCNH2 | n.3946T= c.3113T= (p.Val1038=) c.2093T= (p.Val698=) c.2813T= (p.Val938=) c.2963T= (p.Val988=) c.2936T= (p.Val979=) | |
7 | g.150947367A>C | CA369852600 | KCNH2 | n.3946T>G c.3113T>G (p.Val1038Gly) c.2093T>G (p.Val698Gly) c.2813T>G (p.Val938Gly) c.2963T>G (p.Val988Gly) c.2936T>G (p.Val979Gly) | |
7 | g.150947367A>G | CA369852601 | KCNH2 | n.3946T>C c.3113T>C (p.Val1038Ala) c.2093T>C (p.Val698Ala) c.2813T>C (p.Val938Ala) c.2963T>C (p.Val988Ala) c.2936T>C (p.Val979Ala) | gnomAD v4 |
7 | g.150947367A>T | CA369852603 | KCNH2 | n.3946T>A c.3113T>A (p.Val1038Glu) c.2093T>A (p.Val698Glu) c.2813T>A (p.Val938Glu) c.2963T>A (p.Val988Glu) c.2936T>A (p.Val979Glu) | gnomAD v4 |
7 | g.150947367delinsCCGGGGCCGCCGACC | CA2695208781 | KCNH2 | n.3946delinsGGTCGGCGGCCCCGG c.3113delinsGGTCGGCGGCCCCGG (p.Val1038GlyfsTer24) c.2093delinsGGTCGGCGGCCCCGG (p.Val698GlyfsTer24) c.2813delinsGGTCGGCGGCCCCGG (p.Val938GlyfsTer24) c.2963delinsGGTCGGCGGCCCCGG (p.Val988GlyfsTer24) c.2936delinsGGTCGGCGGCCCCGG (p.Val979GlyfsTer24) | |
7 | g.150947367_150947381delinsACGTCGCCCCGGGGC | CA1752428508 | KCNH2 | n.3932_3946delinsGCCCCGGGGCGACGT c.3099_3113delinsGCCCCGGGGCGACGT (p.Arg1033=) c.2079_2093delinsGCCCCGGGGCGACGT (p.Arg693=) c.2799_2813delinsGCCCCGGGGCGACGT (p.Arg933=) c.2949_2963delinsGCCCCGGGGCGACGT (p.Arg983=) c.2922_2936delinsGCCCCGGGGCGACGT (p.Arg974=) | |
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.150947368C>A | CA037127 | KCNH2 | n.3945G>T c.3112G>T (p.Val1038Leu) c.2092G>T (p.Val698Leu) c.2812G>T (p.Val938Leu) c.2962G>T (p.Val988Leu) c.2935G>T (p.Val979Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947368C= | CA1752428537 | KCNH2 | n.3945G= c.3112G= (p.Val1038=) c.2092G= (p.Val698=) c.2812G= (p.Val938=) c.2962G= (p.Val988=) c.2935G= (p.Val979=) | |
7 | g.150947368C>G | CA369852608 | KCNH2 | n.3945G>C c.3112G>C (p.Val1038Leu) c.2092G>C (p.Val698Leu) c.2812G>C (p.Val938Leu) c.2962G>C (p.Val988Leu) c.2935G>C (p.Val979Leu) | |
7 | g.150947368C>T | CA007991 | KCNH2 | n.3945G>A c.3112G>A (p.Val1038Met) c.2092G>A (p.Val698Met) c.2812G>A (p.Val938Met) c.2962G>A (p.Val988Met) c.2935G>A (p.Val979Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947368_150947369insCGTCGCCCCGGGGC | CA918162868 | KCNH2 | n.3945_3946insCCCCGGGGCGACGG c.3112_3113insCCCCGGGGCGACGG (p.Val1038AlafsTer24) c.2092_2093insCCCCGGGGCGACGG (p.Val698AlafsTer24) c.2812_2813insCCCCGGGGCGACGG (p.Val938AlafsTer24) c.2962_2963insCCCCGGGGCGACGG (p.Val988AlafsTer24) c.2935_2936insCCCCGGGGCGACGG (p.Val979AlafsTer24) | dbSNP |
7 | g.150947370_150947372dup | CA2685601815 | KCNH2 | n.3943_3945dup c.3110_3112dup (p.Asp1037_Val1038insAsp) c.2090_2092dup (p.Asp697_Val698insAsp) c.2810_2812dup (p.Asp937_Val938insAsp) c.2960_2962dup (p.Asp987_Val988insAsp) c.2933_2935dup (p.Asp978_Val979insAsp) | gnomAD v4 |
7 | g.150947369_150947373dup | CA1139660329 | KCNH2 | n.3941_3945dup c.3108_3112dup (p.Val1038AlafsTer21) c.2088_2092dup (p.Val698AlafsTer21) c.2808_2812dup (p.Val938AlafsTer21) c.2958_2962dup (p.Val988AlafsTer21) c.2931_2935dup (p.Val979AlafsTer21) | ClinVar dbSNP |
7 | g.150947369_150947374dup | CA579075354 | KCNH2 | n.3940_3945dup c.3107_3112dup (p.Asp1037_Val1038insGlyAsp) c.2087_2092dup (p.Asp697_Val698insGlyAsp) c.2807_2812dup (p.Asp937_Val938insGlyAsp) c.2957_2962dup (p.Asp987_Val988insGlyAsp) c.2930_2935dup (p.Asp978_Val979insGlyAsp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947368_150947375delinsGT | CA2580077701 | KCNH2 | n.3938_3945delinsAC c.3105_3112delinsAC (p.Gly1036_Val1038delinsLeu) c.2085_2092delinsAC (p.Gly696_Val698delinsLeu) c.2805_2812delinsAC (p.Gly936_Val938delinsLeu) c.2955_2962delinsAC (p.Gly986_Val988delinsLeu) c.2928_2935delinsAC (p.Gly977_Val979delinsLeu) | ClinVar |
7 | g.150947369_150947375dup | CA658797027 | KCNH2 | n.3939_3945dup c.3106_3112dup (p.Val1038GlyfsTer?) c.2086_2092dup (p.Val698GlyfsTer?) c.2806_2812dup (p.Val938GlyfsTer?) c.2956_2962dup (p.Val988GlyfsTer?) c.2929_2935dup (p.Val979GlyfsTer?) | ClinVar dbSNP |
7 | g.150947370_150947377dup | CA305338 | KCNH2 | n.3938_3945dup c.3105_3112dup (p.Val1038GlyfsTer22) c.2085_2092dup (p.Val698GlyfsTer22) c.2805_2812dup (p.Val938GlyfsTer22) c.2955_2962dup (p.Val988GlyfsTer22) c.2928_2935dup (p.Val979GlyfsTer22) | ClinVar dbSNP |
7 | g.150947370_150947377del | CA2825001553 | KCNH2 | n.3938_3945del c.3105_3112del (p.Asp1037GlufsTer?) c.2085_2092del (p.Asp697GlufsTer?) c.2805_2812del (p.Asp937GlufsTer?) c.2955_2962del (p.Asp987GlufsTer?) c.2928_2935del (p.Asp978GlufsTer?) | ClinVar |
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.150947369G>A | CA007976 | KCNH2 | n.3944C>T c.3111C>T (p.Asp1037=) c.2091C>T (p.Asp697=) c.2811C>T (p.Asp937=) c.2961C>T (p.Asp987=) c.2934C>T (p.Asp978=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947369G>C | CA369852611 | KCNH2 | n.3944C>G c.3111C>G (p.Asp1037Glu) c.2091C>G (p.Asp697Glu) c.2811C>G (p.Asp937Glu) c.2961C>G (p.Asp987Glu) c.2934C>G (p.Asp978Glu) | |
7 | g.150947369G= | CA1752428552 | KCNH2 | n.3944C= c.3111C= (p.Asp1037=) c.2091C= (p.Asp697=) c.2811C= (p.Asp937=) c.2961C= (p.Asp987=) c.2934C= (p.Asp978=) | |
7 | g.150947369G>T | CA369852613 | KCNH2 | n.3944C>A c.3111C>A (p.Asp1037Glu) c.2091C>A (p.Asp697Glu) c.2811C>A (p.Asp937Glu) c.2961C>A (p.Asp987Glu) c.2934C>A (p.Asp978Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947370_150947379del | CA2695208782 | KCNH2 | n.3935_3944del c.3102_3111del (p.Arg1035TrpfsTer19) c.2082_2091del (p.Arg695TrpfsTer19) c.2802_2811del (p.Arg935TrpfsTer19) c.2952_2961del (p.Arg985TrpfsTer19) c.2925_2934del (p.Arg976TrpfsTer19) | |
7 | g.150947370T>A | CA369852616 | KCNH2 | n.3943A>T c.3110A>T (p.Asp1037Val) c.2090A>T (p.Asp697Val) c.2810A>T (p.Asp937Val) c.2960A>T (p.Asp987Val) c.2933A>T (p.Asp978Val) | |
7 | g.150947370T>C | CA369852618 | KCNH2 | n.3943A>G c.3110A>G (p.Asp1037Gly) c.2090A>G (p.Asp697Gly) c.2810A>G (p.Asp937Gly) c.2960A>G (p.Asp987Gly) c.2933A>G (p.Asp978Gly) | |
7 | g.150947370T>G | CA369852615 | KCNH2 | n.3943A>C c.3110A>C (p.Asp1037Ala) c.2090A>C (p.Asp697Ala) c.2810A>C (p.Asp937Ala) c.2960A>C (p.Asp987Ala) c.2933A>C (p.Asp978Ala) | |
7 | g.150947370_150947381delinsTCGCCCCGGGGC | CA1752428556 | KCNH2 | n.3932_3943delinsGCCCCGGGGCGA c.3099_3110delinsGCCCCGGGGCGA (p.Arg1033=) c.2079_2090delinsGCCCCGGGGCGA (p.Arg693=) c.2799_2810delinsGCCCCGGGGCGA (p.Arg933=) c.2949_2960delinsGCCCCGGGGCGA (p.Arg983=) c.2922_2933delinsGCCCCGGGGCGA (p.Arg974=) | |
7 | g.150947371C>A | CA369852620 | KCNH2 | n.3942G>T c.3109G>T (p.Asp1037Tyr) c.2089G>T (p.Asp697Tyr) c.2809G>T (p.Asp937Tyr) c.2959G>T (p.Asp987Tyr) c.2932G>T (p.Asp978Tyr) | dbSNP gnomAD v4 |
7 | g.150947371C= | CA1752428565 | KCNH2 | n.3942G= c.3109G= (p.Asp1037=) c.2089G= (p.Asp697=) c.2809G= (p.Asp937=) c.2959G= (p.Asp987=) c.2932G= (p.Asp978=) | |
7 | g.150947371C>G | CA369852621 | KCNH2 | n.3942G>C c.3109G>C (p.Asp1037His) c.2089G>C (p.Asp697His) c.2809G>C (p.Asp937His) c.2959G>C (p.Asp987His) c.2932G>C (p.Asp978His) | |
7 | g.150947371C>T | CA007968 | KCNH2 | n.3942G>A c.3109G>A (p.Asp1037Asn) c.2089G>A (p.Asp697Asn) c.2809G>A (p.Asp937Asn) c.2959G>A (p.Asp987Asn) c.2932G>A (p.Asp978Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947372_150947375dup | CA658761308 | KCNH2 | n.3939_3942dup c.3106_3109dup (p.Asp1037GlyfsTer?) c.2086_2089dup (p.Asp697GlyfsTer?) c.2806_2809dup (p.Asp937GlyfsTer?) c.2956_2959dup (p.Asp987GlyfsTer?) c.2929_2932dup (p.Asp978GlyfsTer?) | |
7 | g.150947373_150947377dup | CA2573141844 | KCNH2 | n.3938_3942dup c.3105_3109dup (p.Asp1037GlyfsTer22) c.2085_2089dup (p.Asp697GlyfsTer22) c.2805_2809dup (p.Asp937GlyfsTer22) c.2955_2959dup (p.Asp987GlyfsTer22) c.2928_2932dup (p.Asp978GlyfsTer22) | ClinVar dbSNP |
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.150947372G>A | CA037083 | KCNH2 | n.3941C>T c.3108C>T (p.Gly1036=) c.2088C>T (p.Gly696=) c.2808C>T (p.Gly936=) c.2958C>T (p.Gly986=) c.2931C>T (p.Gly977=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947372G>C | CA458644829 | KCNH2 | n.3941C>G c.3108C>G (p.Gly1036=) c.2088C>G (p.Gly696=) c.2808C>G (p.Gly936=) c.2958C>G (p.Gly986=) c.2931C>G (p.Gly977=) | |
7 | g.150947372G= | CA1752428580 | KCNH2 | n.3941C= c.3108C= (p.Gly1036=) c.2088C= (p.Gly696=) c.2808C= (p.Gly936=) c.2958C= (p.Gly986=) c.2931C= (p.Gly977=) | |
7 | g.150947372G>T | CA458644830 | KCNH2 | n.3941C>A c.3108C>A (p.Gly1036=) c.2088C>A (p.Gly696=) c.2808C>A (p.Gly936=) c.2958C>A (p.Gly986=) c.2931C>A (p.Gly977=) | gnomAD v4 |
7 | g.150947372dup | CA915945567 | KCNH2 | n.3941dup c.3108dup (p.Asp1037ArgfsTer?) c.2088dup (p.Asp697ArgfsTer?) c.2808dup (p.Asp937ArgfsTer?) c.2958dup (p.Asp987ArgfsTer?) c.2931dup (p.Asp978ArgfsTer?) | ClinVar dbSNP |
7 | g.150947372_150947373delinsGC | CA1752428582 | KCNH2 | n.3940_3941delinsGC c.3107_3108delinsGC (p.Gly1036=) c.2087_2088delinsGC (p.Gly696=) c.2807_2808delinsGC (p.Gly936=) c.2957_2958delinsGC (p.Gly986=) c.2930_2931delinsGC (p.Gly977=) | |
7 | g.150947372_150947380delinsGCCCCGGGG | CA1752428579 | KCNH2 | n.3933_3941delinsCCCCGGGGC c.3100_3108delinsCCCCGGGGC (p.Pro1034=) c.2080_2088delinsCCCCGGGGC (p.Pro694=) c.2800_2808delinsCCCCGGGGC (p.Pro934=) c.2950_2958delinsCCCCGGGGC (p.Pro984=) c.2923_2931delinsCCCCGGGGC (p.Pro975=) | |
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.150947373C>A | CA369852628 | KCNH2 | n.3940G>T c.3107G>T (p.Gly1036Val) c.2087G>T (p.Gly696Val) c.2807G>T (p.Gly936Val) c.2957G>T (p.Gly986Val) c.2930G>T (p.Gly977Val) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150947373C= | CA1752428604 | KCNH2 | n.3940G= c.3107G= (p.Gly1036=) c.2087G= (p.Gly696=) c.2807G= (p.Gly936=) c.2957G= (p.Gly986=) c.2930G= (p.Gly977=) | |
7 | g.150947373C>G | CA369852630 | KCNH2 | n.3940G>C c.3107G>C (p.Gly1036Ala) c.2087G>C (p.Gly696Ala) c.2807G>C (p.Gly936Ala) c.2957G>C (p.Gly986Ala) c.2930G>C (p.Gly977Ala) | |
7 | g.150947373C>T | CA007960 | KCNH2 | n.3940G>A c.3107G>A (p.Gly1036Asp) c.2087G>A (p.Gly696Asp) c.2807G>A (p.Gly936Asp) c.2957G>A (p.Gly986Asp) c.2930G>A (p.Gly977Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947373_150947376del | CA2695208783 | KCNH2 | n.3937_3940del c.3104_3107del (p.Arg1035ProfsTer21) c.2084_2087del (p.Arg695ProfsTer21) c.2804_2807del (p.Arg935ProfsTer21) c.2954_2957del (p.Arg985ProfsTer21) c.2927_2930del (p.Arg976ProfsTer21) | |
7 | g.150947376dup | CA305506 | KCNH2 | n.3940dup c.3107dup (p.Asp1037ArgfsTer?) c.2087dup (p.Asp697ArgfsTer?) c.2807dup (p.Asp937ArgfsTer?) c.2957dup (p.Asp987ArgfsTer?) c.2930dup (p.Asp978ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
7 | g.150947375_150947376dup | CA16042570 | KCNH2 | n.3939_3940dup c.3106_3107dup (p.Asp1037AlafsTer21) c.2086_2087dup (p.Asp697AlafsTer21) c.2806_2807dup (p.Asp937AlafsTer21) c.2956_2957dup (p.Asp987AlafsTer21) c.2929_2930dup (p.Asp978AlafsTer21) | ClinVar dbSNP |
7 | g.150947374_150947376dup | CA579075355 | KCNH2 | n.3938_3940dup c.3105_3107dup (p.Gly1036_Asp1037insGly) c.2085_2087dup (p.Gly696_Asp697insGly) c.2805_2807dup (p.Gly936_Asp937insGly) c.2955_2957dup (p.Gly986_Asp987insGly) c.2928_2930dup (p.Gly977_Asp978insGly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947373_150947376dup | CA305337 | KCNH2 | n.3937_3940dup c.3104_3107dup (p.Asp1037GlyfsTer?) c.2084_2087dup (p.Asp697GlyfsTer?) c.2804_2807dup (p.Asp937GlyfsTer?) c.2954_2957dup (p.Asp987GlyfsTer?) c.2927_2930dup (p.Asp978GlyfsTer?) | ClinVar dbSNP |
7 | g.150947376del | CA007951 | KCNH2 | n.3940del c.3107del (p.Gly1036AlafsTer21) c.2087del (p.Gly696AlafsTer21) c.2807del (p.Gly936AlafsTer21) c.2957del (p.Gly986AlafsTer21) c.2930del (p.Gly977AlafsTer21) | ClinVar dbSNP gnomAD v4 |
7 | g.150947373_150947380delinsGCC | CA1139660330 | KCNH2 | n.3933_3940delinsGGC c.3100_3107delinsGGC (p.Pro1034GlyfsTer?) c.2080_2087delinsGGC (p.Pro694GlyfsTer?) c.2800_2807delinsGGC (p.Pro934GlyfsTer?) c.2950_2957delinsGGC (p.Pro984GlyfsTer?) c.2923_2930delinsGGC (p.Pro975GlyfsTer?) | 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.150947374C>A | CA369852638 | KCNH2 | n.3939G>T c.3106G>T (p.Gly1036Cys) c.2086G>T (p.Gly696Cys) c.2806G>T (p.Gly936Cys) c.2956G>T (p.Gly986Cys) c.2929G>T (p.Gly977Cys) | gnomAD v4 |
7 | g.150947374C= | CA1752428638 | KCNH2 | n.3939G= c.3106G= (p.Gly1036=) c.2086G= (p.Gly696=) c.2806G= (p.Gly936=) c.2956G= (p.Gly986=) c.2929G= (p.Gly977=) | |
7 | g.150947374C>G | CA369852636 | KCNH2 | n.3939G>C c.3106G>C (p.Gly1036Arg) c.2086G>C (p.Gly696Arg) c.2806G>C (p.Gly936Arg) c.2956G>C (p.Gly986Arg) c.2929G>C (p.Gly977Arg) | |
7 | g.150947374C>T | CA369852634 | KCNH2 | n.3939G>A c.3106G>A (p.Gly1036Ser) c.2086G>A (p.Gly696Ser) c.2806G>A (p.Gly936Ser) c.2956G>A (p.Gly986Ser) c.2929G>A (p.Gly977Ser) | ClinVar dbSNP gnomAD v4 |
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.150947375C>A | CA458644834 | KCNH2 | n.3938G>T c.3105G>T (p.Arg1035=) c.2085G>T (p.Arg695=) c.2805G>T (p.Arg935=) c.2955G>T (p.Arg985=) c.2928G>T (p.Arg976=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947375C= | CA1752428641 | KCNH2 | n.3938G= c.3105G= (p.Arg1035=) c.2085G= (p.Arg695=) c.2805G= (p.Arg935=) c.2955G= (p.Arg985=) c.2928G= (p.Arg976=) | |
7 | g.150947375C>G | CA458644833 | KCNH2 | n.3938G>C c.3105G>C (p.Arg1035=) c.2085G>C (p.Arg695=) c.2805G>C (p.Arg935=) c.2955G>C (p.Arg985=) c.2928G>C (p.Arg976=) | |
7 | g.150947375C>T | CA458644832 | KCNH2 | n.3938G>A c.3105G>A (p.Arg1035=) c.2085G>A (p.Arg695=) c.2805G>A (p.Arg935=) c.2955G>A (p.Arg985=) c.2928G>A (p.Arg976=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
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.150947375_150947376insGG | CA2695208784 | KCNH2 | n.3937_3938insCC c.3104_3105insCC (p.Gly1036ArgfsTer22) c.2084_2085insCC (p.Gly696ArgfsTer22) c.2804_2805insCC (p.Gly936ArgfsTer22) c.2954_2955insCC (p.Gly986ArgfsTer22) c.2927_2928insCC (p.Gly977ArgfsTer22) | |
7 | g.150947376C>A | CA369852640 | KCNH2 | n.3937G>T c.3104G>T (p.Arg1035Leu) c.2084G>T (p.Arg695Leu) c.2804G>T (p.Arg935Leu) c.2954G>T (p.Arg985Leu) c.2927G>T (p.Arg976Leu) | dbSNP gnomAD v4 |
7 | g.150947376C= | CA1752428646 | KCNH2 | n.3937G= c.3104G= (p.Arg1035=) c.2084G= (p.Arg695=) c.2804G= (p.Arg935=) c.2954G= (p.Arg985=) c.2927G= (p.Arg976=) | |
7 | g.150947376C>G | CA369852641 | KCNH2 | n.3937G>C c.3104G>C (p.Arg1035Pro) c.2084G>C (p.Arg695Pro) c.2804G>C (p.Arg935Pro) c.2954G>C (p.Arg985Pro) c.2927G>C (p.Arg976Pro) | gnomAD v4 |
7 | g.150947376C>T | CA037044 | KCNH2 | n.3937G>A c.3104G>A (p.Arg1035Gln) c.2084G>A (p.Arg695Gln) c.2804G>A (p.Arg935Gln) c.2954G>A (p.Arg985Gln) c.2927G>A (p.Arg976Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947376_150947377delinsCG | CA1752428649 | KCNH2 | n.3936_3937delinsCG c.3103_3104delinsCG (p.Arg1035=) c.2083_2084delinsCG (p.Arg695=) c.2803_2804delinsCG (p.Arg935=) c.2953_2954delinsCG (p.Arg985=) c.2926_2927delinsCG (p.Arg976=) | |
7 | g.150947377G>A | CA007929 | KCNH2 | n.3936C>T c.3103C>T (p.Arg1035Trp) c.2083C>T (p.Arg695Trp) c.2803C>T (p.Arg935Trp) c.2953C>T (p.Arg985Trp) c.2926C>T (p.Arg976Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
7 | g.150947377G>C | CA369852644 | KCNH2 | n.3936C>G c.3103C>G (p.Arg1035Gly) c.2083C>G (p.Arg695Gly) c.2803C>G (p.Arg935Gly) c.2953C>G (p.Arg985Gly) c.2926C>G (p.Arg976Gly) | gnomAD v4 |
7 | g.150947377G= | CA1752428660 | KCNH2 | n.3936C= c.3103C= (p.Arg1035=) c.2083C= (p.Arg695=) c.2803C= (p.Arg935=) c.2953C= (p.Arg985=) c.2926C= (p.Arg976=) | |
7 | g.150947377G>T | CA037022 | KCNH2 | n.3936C>A c.3103C>A (p.Arg1035=) c.2083C>A (p.Arg695=) c.2803C>A (p.Arg935=) c.2953C>A (p.Arg985=) c.2926C>A (p.Arg976=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150947380dup | CA916080374 | KCNH2 | n.3936dup c.3103dup (p.Arg1035ProfsTer?) c.2083dup (p.Arg695ProfsTer?) c.2803dup (p.Arg935ProfsTer?) c.2953dup (p.Arg985ProfsTer?) c.2926dup (p.Arg976ProfsTer?) | ClinVar dbSNP gnomAD v4 |
7 | g.150947379_150947380dup | CA2573332602 | KCNH2 | n.3935_3936dup c.3102_3103dup (p.Arg1035ProfsTer23) c.2082_2083dup (p.Arg695ProfsTer23) c.2802_2803dup (p.Arg935ProfsTer23) c.2952_2953dup (p.Arg985ProfsTer23) c.2925_2926dup (p.Arg976ProfsTer23) | |
7 | g.150947377_150947380dup | CA2580077707 | KCNH2 | n.3933_3936dup c.3100_3103dup (p.Arg1035ProfsTer?) c.2080_2083dup (p.Arg695ProfsTer?) c.2800_2803dup (p.Arg935ProfsTer?) c.2950_2953dup (p.Arg985ProfsTer?) c.2923_2926dup (p.Arg976ProfsTer?) | ClinVar |
7 | g.150947380del | CA007936 | KCNH2 | n.3936del c.3103del (p.Arg1035GlyfsTer22) c.2083del (p.Arg695GlyfsTer22) c.2803del (p.Arg935GlyfsTer22) c.2953del (p.Arg985GlyfsTer22) c.2926del (p.Arg976GlyfsTer22) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947379_150947380del | CA2695208785 | KCNH2 | n.3935_3936del c.3102_3103del (p.Arg1035GlyfsTer?) c.2082_2083del (p.Arg695GlyfsTer?) c.2802_2803del (p.Arg935GlyfsTer?) c.2952_2953del (p.Arg985GlyfsTer?) c.2925_2926del (p.Arg976GlyfsTer?) | |
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.150947377_150947378insC | CA2695208786 | KCNH2 | n.3935_3936insG c.3102_3103insG (p.Arg1035AlafsTer?) c.2082_2083insG (p.Arg695AlafsTer?) c.2802_2803insG (p.Arg935AlafsTer?) c.2952_2953insG (p.Arg985AlafsTer?) c.2925_2926insG (p.Arg976AlafsTer?) | |
7 | g.150947378G>A | CA458644838 | KCNH2 | n.3935C>T c.3102C>T (p.Pro1034=) c.2082C>T (p.Pro694=) c.2802C>T (p.Pro934=) c.2952C>T (p.Pro984=) c.2925C>T (p.Pro975=) | gnomAD v4 |
7 | g.150947378G>C | CA458644839 | KCNH2 | n.3935C>G c.3102C>G (p.Pro1034=) c.2082C>G (p.Pro694=) c.2802C>G (p.Pro934=) c.2952C>G (p.Pro984=) c.2925C>G (p.Pro975=) | |
7 | g.150947378G>T | CA458644840 | KCNH2 | n.3935C>A c.3102C>A (p.Pro1034=) c.2082C>A (p.Pro694=) c.2802C>A (p.Pro934=) c.2952C>A (p.Pro984=) c.2925C>A (p.Pro975=) | gnomAD v4 |
7 | g.150947378_150947381dup | CA915945568 | KCNH2 | n.3932_3935dup c.3099_3102dup (p.Arg1035AlafsTer?) c.2079_2082dup (p.Arg695AlafsTer?) c.2799_2802dup (p.Arg935AlafsTer?) c.2949_2952dup (p.Arg985AlafsTer?) c.2922_2925dup (p.Arg976AlafsTer?) | ClinVar dbSNP |
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.150947379G>A | CA369852647 | KCNH2 | n.3934C>T c.3101C>T (p.Pro1034Leu) c.2081C>T (p.Pro694Leu) c.2801C>T (p.Pro934Leu) c.2951C>T (p.Pro984Leu) c.2924C>T (p.Pro975Leu) | gnomAD v4 |
7 | g.150947379G>C | CA369852649 | KCNH2 | n.3934C>G c.3101C>G (p.Pro1034Arg) c.2081C>G (p.Pro694Arg) c.2801C>G (p.Pro934Arg) c.2951C>G (p.Pro984Arg) c.2924C>G (p.Pro975Arg) | gnomAD v4 |
7 | g.150947379G= | CA1752428683 | KCNH2 | n.3934C= c.3101C= (p.Pro1034=) c.2081C= (p.Pro694=) c.2801C= (p.Pro934=) c.2951C= (p.Pro984=) c.2924C= (p.Pro975=) | |
7 | g.150947379G>T | CA369852650 | KCNH2 | n.3934C>A c.3101C>A (p.Pro1034His) c.2081C>A (p.Pro694His) c.2801C>A (p.Pro934His) c.2951C>A (p.Pro984His) c.2924C>A (p.Pro975His) | |
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.150947380G>A | CA369852652 | KCNH2 | n.3933C>T c.3100C>T (p.Pro1034Ser) c.2080C>T (p.Pro694Ser) c.2800C>T (p.Pro934Ser) c.2950C>T (p.Pro984Ser) c.2923C>T (p.Pro975Ser) | gnomAD v4 |
7 | g.150947380G>C | CA369852653 | KCNH2 | n.3933C>G c.3100C>G (p.Pro1034Ala) c.2080C>G (p.Pro694Ala) c.2800C>G (p.Pro934Ala) c.2950C>G (p.Pro984Ala) c.2923C>G (p.Pro975Ala) | |
7 | g.150947380G= | CA1752428691 | KCNH2 | n.3933C= c.3100C= (p.Pro1034=) c.2080C= (p.Pro694=) c.2800C= (p.Pro934=) c.2950C= (p.Pro984=) c.2923C= (p.Pro975=) | |
7 | g.150947380G>T | CA369852655 | KCNH2 | n.3933C>A c.3100C>A (p.Pro1034Thr) c.2080C>A (p.Pro694Thr) c.2800C>A (p.Pro934Thr) c.2950C>A (p.Pro984Thr) c.2923C>A (p.Pro975Thr) | gnomAD v4 |
7 | g.150947380_150947381delinsGC | CA1752428689 | KCNH2 | n.3932_3933delinsGC c.3099_3100delinsGC (p.Arg1033=) c.2079_2080delinsGC (p.Arg693=) c.2799_2800delinsGC (p.Arg933=) c.2949_2950delinsGC (p.Arg983=) c.2922_2923delinsGC (p.Arg974=) | |
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.150947381C>A | CA169071881 | KCNH2 | n.3932G>T c.3099G>T (p.Arg1033=) c.2079G>T (p.Arg693=) c.2799G>T (p.Arg933=) c.2949G>T (p.Arg983=) c.2922G>T (p.Arg974=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947381C= | CA1752428710 | KCNH2 | n.3932G= c.3099G= (p.Arg1033=) c.2079G= (p.Arg693=) c.2799G= (p.Arg933=) c.2949G= (p.Arg983=) c.2922G= (p.Arg974=) | |
7 | g.150947381C>G | CA458644844 | KCNH2 | n.3932G>C c.3099G>C (p.Arg1033=) c.2079G>C (p.Arg693=) c.2799G>C (p.Arg933=) c.2949G>C (p.Arg983=) c.2922G>C (p.Arg974=) | ClinVar dbSNP |
7 | g.150947381C>T | CA458644845 | KCNH2 | n.3932G>A c.3099G>A (p.Arg1033=) c.2079G>A (p.Arg693=) c.2799G>A (p.Arg933=) c.2949G>A (p.Arg983=) c.2922G>A (p.Arg974=) | 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 |
7 | g.150947385_150947386insCGCCC | CA2695208790 | KCNH2 | n.3929_3930insGCGGG c.3096_3097insGCGGG (p.Arg1033AlafsTer26) c.2076_2077insGCGGG (p.Arg693AlafsTer26) c.2796_2797insGCGGG (p.Arg933AlafsTer26) c.2946_2947insGCGGG (p.Arg983AlafsTer26) c.2919_2920insGCGGG (p.Arg974AlafsTer26) | |
7 | g.150947385_150947390dup | CA579075357 | KCNH2 | n.3924_3929dup c.3091_3096dup (p.Arg1032_Arg1033insGlyArg) c.2071_2076dup (p.Arg692_Arg693insGlyArg) c.2791_2796dup (p.Arg932_Arg933insGlyArg) c.2941_2946dup (p.Arg982_Arg983insGlyArg) c.2914_2919dup (p.Arg973_Arg974insGlyArg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947387_150947391dup | CA658656013 | KCNH2 | n.3925_3929dup c.3092_3096dup (p.Arg1033ValfsTer26) c.2072_2076dup (p.Arg693ValfsTer26) c.2792_2796dup (p.Arg933ValfsTer26) c.2942_2946dup (p.Arg983ValfsTer26) c.2915_2919dup (p.Arg974ValfsTer26) | ClinVar dbSNP |
7 | g.150947387_150947391del | CA2778425790 | KCNH2 | n.3925_3929del c.3092_3096del (p.Gly1031AlafsTer?) c.2072_2076del (p.Gly691AlafsTer?) c.2792_2796del (p.Gly931AlafsTer?) c.2942_2946del (p.Gly981AlafsTer?) c.2915_2919del (p.Gly972AlafsTer?) | |
7 | g.150947384_150947393delinsGC | CA658797030 | KCNH2 | n.3920_3929delinsGC c.3087_3096delinsGC (p.Ser1029ArgfsTer?) c.2067_2076delinsGC (p.Ser689ArgfsTer?) c.2787_2796delinsGC (p.Ser929ArgfsTer?) c.2937_2946delinsGC (p.Ser979ArgfsTer?) c.2910_2919delinsGC (p.Ser970ArgfsTer?) | ClinVar dbSNP |
7 | g.150947385C>A | CA036959 | KCNH2 | n.3928G>T c.3095G>T (p.Arg1032Leu) c.2075G>T (p.Arg692Leu) c.2795G>T (p.Arg932Leu) c.2945G>T (p.Arg982Leu) c.2918G>T (p.Arg973Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150947385C= | CA1752428769 | KCNH2 | n.3928G= c.3095G= (p.Arg1032=) c.2075G= (p.Arg692=) c.2795G= (p.Arg932=) c.2945G= (p.Arg982=) c.2918G= (p.Arg973=) | |
7 | g.150947385C>G | CA169071899 | KCNH2 | n.3928G>C c.3095G>C (p.Arg1032Pro) c.2075G>C (p.Arg692Pro) c.2795G>C (p.Arg932Pro) c.2945G>C (p.Arg982Pro) c.2918G>C (p.Arg973Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.150947385C>T | CA007902 | KCNH2 | n.3928G>A c.3095G>A (p.Arg1032Gln) c.2075G>A (p.Arg692Gln) c.2795G>A (p.Arg932Gln) c.2945G>A (p.Arg982Gln) c.2918G>A (p.Arg973Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947385_150947386delinsCG | CA1752428768 | KCNH2 | n.3927_3928delinsCG c.3094_3095delinsCG (p.Arg1032=) c.2074_2075delinsCG (p.Arg692=) c.2794_2795delinsCG (p.Arg932=) c.2944_2945delinsCG (p.Arg982=) c.2917_2918delinsCG (p.Arg973=) | |
7 | g.150947385_150947386dup | CA2697557664 | KCNH2 | n.3927_3928dup c.3094_3095dup (p.Arg1033GlyfsTer25) c.2074_2075dup (p.Arg693GlyfsTer25) c.2794_2795dup (p.Arg933GlyfsTer25) c.2944_2945dup (p.Arg983GlyfsTer25) c.2917_2918dup (p.Arg974GlyfsTer25) | ClinVar |
7 | g.150947386del | CA348971 | KCNH2 | n.3927del c.3094del (p.Arg1032GlyfsTer25) c.2074del (p.Arg692GlyfsTer25) c.2794del (p.Arg932GlyfsTer25) c.2944del (p.Arg982GlyfsTer25) c.2917del (p.Arg973GlyfsTer25) | ClinVar dbSNP |
7 | g.150947386G>A | CA007892 | KCNH2 | n.3927C>T c.3094C>T (p.Arg1032Trp) c.2074C>T (p.Arg692Trp) c.2794C>T (p.Arg932Trp) c.2944C>T (p.Arg982Trp) c.2917C>T (p.Arg973Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947386G>C | CA369852668 | KCNH2 | n.3927C>G c.3094C>G (p.Arg1032Gly) c.2074C>G (p.Arg692Gly) c.2794C>G (p.Arg932Gly) c.2944C>G (p.Arg982Gly) c.2917C>G (p.Arg973Gly) | ClinVar dbSNP gnomAD v4 |
7 | g.150947386G= | CA1752428781 | KCNH2 | n.3927C= c.3094C= (p.Arg1032=) c.2074C= (p.Arg692=) c.2794C= (p.Arg932=) c.2944C= (p.Arg982=) c.2917C= (p.Arg973=) | |
7 | g.150947386G>T | CA458644851 | KCNH2 | n.3927C>A c.3094C>A (p.Arg1032=) c.2074C>A (p.Arg692=) c.2794C>A (p.Arg932=) c.2944C>A (p.Arg982=) c.2917C>A (p.Arg973=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947386_150947387del | CA2580077711 | KCNH2 | n.3926_3927del c.3093_3094del (p.Arg1032AlafsTer?) c.2073_2074del (p.Arg692AlafsTer?) c.2793_2794del (p.Arg932AlafsTer?) c.2943_2944del (p.Arg982AlafsTer?) c.2916_2917del (p.Arg973AlafsTer?) | ClinVar |
7 | g.150947387A>C | CA458644852 | KCNH2 | n.3926T>G c.3093T>G (p.Gly1031=) c.2073T>G (p.Gly691=) c.2793T>G (p.Gly931=) c.2943T>G (p.Gly981=) c.2916T>G (p.Gly972=) | ClinVar gnomAD v4 |
7 | g.150947387A>G | CA458644853 | KCNH2 | n.3926T>C c.3093T>C (p.Gly1031=) c.2073T>C (p.Gly691=) c.2793T>C (p.Gly931=) c.2943T>C (p.Gly981=) c.2916T>C (p.Gly972=) | |
7 | g.150947387A>T | CA458644854 | KCNH2 | n.3926T>A c.3093T>A (p.Gly1031=) c.2073T>A (p.Gly691=) c.2793T>A (p.Gly931=) c.2943T>A (p.Gly981=) c.2916T>A (p.Gly972=) | |
7 | g.150947387_150947388delinsAC | CA1752428793 | KCNH2 | n.3925_3926delinsGT c.3092_3093delinsGT (p.Gly1031=) c.2072_2073delinsGT (p.Gly691=) c.2792_2793delinsGT (p.Gly931=) c.2942_2943delinsGT (p.Gly981=) c.2915_2916delinsGT (p.Gly972=) | |
7 | g.150947387_150947390dup | CA658797031 | KCNH2 | n.3923_3926dup c.3090_3093dup (p.Arg1032GlyfsTer?) c.2070_2073dup (p.Arg692GlyfsTer?) c.2790_2793dup (p.Arg932GlyfsTer?) c.2940_2943dup (p.Arg982GlyfsTer?) c.2913_2916dup (p.Arg973GlyfsTer?) | ClinVar dbSNP |
7 | g.150947388C>A | CA369852674 | KCNH2 | n.3925G>T c.3092G>T (p.Gly1031Val) c.2072G>T (p.Gly691Val) c.2792G>T (p.Gly931Val) c.2942G>T (p.Gly981Val) c.2915G>T (p.Gly972Val) | dbSNP gnomAD v2 |
7 | g.150947388C= | CA1752428804 | KCNH2 | n.3925G= c.3092G= (p.Gly1031=) c.2072G= (p.Gly691=) c.2792G= (p.Gly931=) c.2942G= (p.Gly981=) c.2915G= (p.Gly972=) | |
7 | g.150947388C>G | CA369852673 | KCNH2 | n.3925G>C c.3092G>C (p.Gly1031Ala) c.2072G>C (p.Gly691Ala) c.2792G>C (p.Gly931Ala) c.2942G>C (p.Gly981Ala) c.2915G>C (p.Gly972Ala) | |
7 | g.150947388C>T | CA369852672 | KCNH2 | n.3925G>A c.3092G>A (p.Gly1031Asp) c.2072G>A (p.Gly691Asp) c.2792G>A (p.Gly931Asp) c.2942G>A (p.Gly981Asp) c.2915G>A (p.Gly972Asp) | ClinVar dbSNP |
7 | g.150947390dup | CA2695208792 | KCNH2 | n.3925dup c.3092dup (p.Arg1032SerfsTer?) c.2072dup (p.Arg692SerfsTer?) c.2792dup (p.Arg932SerfsTer?) c.2942dup (p.Arg982SerfsTer?) c.2915dup (p.Arg973SerfsTer?) | |
7 | g.150947390del | CA1108704617 | KCNH2 | n.3925del c.3092del (p.Gly1031ValfsTer26) c.2072del (p.Gly691ValfsTer26) c.2792del (p.Gly931ValfsTer26) c.2942del (p.Gly981ValfsTer26) c.2915del (p.Gly972ValfsTer26) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150947391_150947392insCCCCG | CA2695208791 | KCNH2 | n.3925_3926insGCGGG c.3092_3093insGCGGG (p.Arg1033ValfsTer26) c.2072_2073insGCGGG (p.Arg693ValfsTer26) c.2792_2793insGCGGG (p.Arg933ValfsTer26) c.2942_2943insGCGGG (p.Arg983ValfsTer26) c.2915_2916insGCGGG (p.Arg974ValfsTer26) | |
7 | g.150947389_150947394del | CA2573141846 | KCNH2 | n.3920_3925del c.3087_3092del (p.Pro1030_Gly1031del) c.2067_2072del (p.Pro690_Gly691del) c.2787_2792del (p.Pro930_Gly931del) c.2937_2942del (p.Pro980_Gly981del) c.2910_2915del (p.Pro971_Gly972del) | ClinVar dbSNP |
7 | g.150947389C>A | CA369852676 | KCNH2 | n.3924G>T c.3091G>T (p.Gly1031Cys) c.2071G>T (p.Gly691Cys) c.2791G>T (p.Gly931Cys) c.2941G>T (p.Gly981Cys) c.2914G>T (p.Gly972Cys) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947389C= | CA1752428814 | KCNH2 | n.3924G= c.3091G= (p.Gly1031=) c.2071G= (p.Gly691=) c.2791G= (p.Gly931=) c.2941G= (p.Gly981=) c.2914G= (p.Gly972=) | |
7 | g.150947389C>G | CA369852678 | KCNH2 | n.3924G>C c.3091G>C (p.Gly1031Arg) c.2071G>C (p.Gly691Arg) c.2791G>C (p.Gly931Arg) c.2941G>C (p.Gly981Arg) c.2914G>C (p.Gly972Arg) | |
7 | g.150947389C>T | CA369852679 | KCNH2 | n.3924G>A c.3091G>A (p.Gly1031Ser) c.2071G>A (p.Gly691Ser) c.2791G>A (p.Gly931Ser) c.2941G>A (p.Gly981Ser) c.2914G>A (p.Gly972Ser) | |
7 | g.150947390C>A | CA458644855 | KCNH2 | n.3923G>T c.3090G>T (p.Pro1030=) c.2070G>T (p.Pro690=) c.2790G>T (p.Pro930=) c.2940G>T (p.Pro980=) c.2913G>T (p.Pro971=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947390C= | CA1752428828 | KCNH2 | n.3923G= c.3090G= (p.Pro1030=) c.2070G= (p.Pro690=) c.2790G= (p.Pro930=) c.2940G= (p.Pro980=) c.2913G= (p.Pro971=) | |
7 | g.150947390C>G | CA036902 | KCNH2 | n.3923G>C c.3090G>C (p.Pro1030=) c.2070G>C (p.Pro690=) c.2790G>C (p.Pro930=) c.2940G>C (p.Pro980=) c.2913G>C (p.Pro971=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947390C>T | CA458644856 | KCNH2 | n.3923G>A c.3090G>A (p.Pro1030=) c.2070G>A (p.Pro690=) c.2790G>A (p.Pro930=) c.2940G>A (p.Pro980=) c.2913G>A (p.Pro971=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947390_150947392delinsCGG | CA1752428823 | KCNH2 | n.3921_3923delinsCCG c.3088_3090delinsCCG (p.Pro1030=) c.2068_2070delinsCCG (p.Pro690=) c.2788_2790delinsCCG (p.Pro930=) c.2938_2940delinsCCG (p.Pro980=) c.2911_2913delinsCCG (p.Pro971=) | |
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.150947391G>A | CA169071928 | KCNH2 | n.3922C>T c.3089C>T (p.Pro1030Leu) c.2069C>T (p.Pro690Leu) c.2789C>T (p.Pro930Leu) c.2939C>T (p.Pro980Leu) c.2912C>T (p.Pro971Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947391G>C | CA369852682 | KCNH2 | n.3922C>G c.3089C>G (p.Pro1030Arg) c.2069C>G (p.Pro690Arg) c.2789C>G (p.Pro930Arg) c.2939C>G (p.Pro980Arg) c.2912C>G (p.Pro971Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.150947391G= | CA1752428840 | KCNH2 | n.3922C= c.3089C= (p.Pro1030=) c.2069C= (p.Pro690=) c.2789C= (p.Pro930=) c.2939C= (p.Pro980=) c.2912C= (p.Pro971=) | |
7 | g.150947391G>T | CA369852683 | KCNH2 | n.3922C>A c.3089C>A (p.Pro1030Gln) c.2069C>A (p.Pro690Gln) c.2789C>A (p.Pro930Gln) c.2939C>A (p.Pro980Gln) c.2912C>A (p.Pro971Gln) | ClinVar gnomAD v4 |
7 | g.150947391_150947392delinsCGGGAGACCC | CA658823158 | KCNH2 | n.3921_3922delinsGGGTCTCCCG c.3088_3089delinsGGGTCTCCCG (p.Pro1030GlyfsTer30) c.2068_2069delinsGGGTCTCCCG (p.Pro690GlyfsTer30) c.2788_2789delinsGGGTCTCCCG (p.Pro930GlyfsTer30) c.2938_2939delinsGGGTCTCCCG (p.Pro980GlyfsTer30) c.2911_2912delinsGGGTCTCCCG (p.Pro971GlyfsTer30) | ClinVar dbSNP |
7 | g.150947392G>A | CA169071933 | KCNH2 | n.3921C>T c.3088C>T (p.Pro1030Ser) c.2068C>T (p.Pro690Ser) c.2788C>T (p.Pro930Ser) c.2938C>T (p.Pro980Ser) c.2911C>T (p.Pro971Ser) | dbSNP gnomAD v4 |
7 | g.150947392G>C | CA369852685 | KCNH2 | n.3921C>G c.3088C>G (p.Pro1030Ala) c.2068C>G (p.Pro690Ala) c.2788C>G (p.Pro930Ala) c.2938C>G (p.Pro980Ala) c.2911C>G (p.Pro971Ala) | |
7 | g.150947392G= | CA1752428848 | KCNH2 | n.3921C= c.3088C= (p.Pro1030=) c.2068C= (p.Pro690=) c.2788C= (p.Pro930=) c.2938C= (p.Pro980=) c.2911C= (p.Pro971=) | |
7 | g.150947392G>T | CA369852686 | KCNH2 | n.3921C>A c.3088C>A (p.Pro1030Thr) c.2068C>A (p.Pro690Thr) c.2788C>A (p.Pro930Thr) c.2938C>A (p.Pro980Thr) c.2911C>A (p.Pro971Thr) | gnomAD v4 |
7 | g.150947393G>A | CA458644858 | KCNH2 | n.3920C>T c.3087C>T (p.Ser1029=) c.2067C>T (p.Ser689=) c.2787C>T (p.Ser929=) c.2937C>T (p.Ser979=) c.2910C>T (p.Ser970=) | gnomAD v4 |
7 | g.150947393G>C | CA369852688 | KCNH2 | n.3920C>G c.3087C>G (p.Ser1029Arg) c.2067C>G (p.Ser689Arg) c.2787C>G (p.Ser929Arg) c.2937C>G (p.Ser979Arg) c.2910C>G (p.Ser970Arg) | |
7 | g.150947393G>T | CA369852690 | KCNH2 | n.3920C>A c.3087C>A (p.Ser1029Arg) c.2067C>A (p.Ser689Arg) c.2787C>A (p.Ser929Arg) c.2937C>A (p.Ser979Arg) c.2910C>A (p.Ser970Arg) | gnomAD v4 |
7 | g.150947393_150947394dup | CA2573141847 | KCNH2 | n.3919_3920dup c.3086_3087dup (p.Pro1030AlafsTer28) c.2066_2067dup (p.Pro690AlafsTer28) c.2786_2787dup (p.Pro930AlafsTer28) c.2936_2937dup (p.Pro980AlafsTer28) c.2909_2910dup (p.Pro971AlafsTer28) | ClinVar dbSNP |
7 | g.150947394C>A | CA369852695 | KCNH2 | n.3919G>T c.3086G>T (p.Ser1029Ile) c.2066G>T (p.Ser689Ile) c.2786G>T (p.Ser929Ile) c.2936G>T (p.Ser979Ile) c.2909G>T (p.Ser970Ile) | gnomAD v4 |
7 | g.150947394C>G | CA369852693 | KCNH2 | n.3919G>C c.3086G>C (p.Ser1029Thr) c.2066G>C (p.Ser689Thr) c.2786G>C (p.Ser929Thr) c.2936G>C (p.Ser979Thr) c.2909G>C (p.Ser970Thr) | |
7 | g.150947394C>T | CA369852691 | KCNH2 | n.3919G>A c.3086G>A (p.Ser1029Asn) c.2066G>A (p.Ser689Asn) c.2786G>A (p.Ser929Asn) c.2936G>A (p.Ser979Asn) c.2909G>A (p.Ser970Asn) | gnomAD v4 |
7 | g.150947395T>A | CA369852697 | KCNH2 | n.3918A>T c.3085A>T (p.Ser1029Cys) c.2065A>T (p.Ser689Cys) c.2785A>T (p.Ser929Cys) c.2935A>T (p.Ser979Cys) c.2908A>T (p.Ser970Cys) | |
7 | g.150947395T>C | CA369852699 | KCNH2 | n.3918A>G c.3085A>G (p.Ser1029Gly) c.2065A>G (p.Ser689Gly) c.2785A>G (p.Ser929Gly) c.2935A>G (p.Ser979Gly) c.2908A>G (p.Ser970Gly) | gnomAD v4 |
7 | g.150947395T>G | CA369852698 | KCNH2 | n.3918A>C c.3085A>C (p.Ser1029Arg) c.2065A>C (p.Ser689Arg) c.2785A>C (p.Ser929Arg) c.2935A>C (p.Ser979Arg) c.2908A>C (p.Ser970Arg) | |
7 | g.150947396G>A | CA458644859 | KCNH2 | n.3917C>T c.3084C>T (p.Ser1028=) c.2064C>T (p.Ser688=) c.2784C>T (p.Ser928=) c.2934C>T (p.Ser978=) c.2907C>T (p.Ser969=) | |
7 | g.150947396G>C | CA458644861 | KCNH2 | n.3917C>G c.3084C>G (p.Ser1028=) c.2064C>G (p.Ser688=) c.2784C>G (p.Ser928=) c.2934C>G (p.Ser978=) c.2907C>G (p.Ser969=) | |
7 | g.150947396G>T | CA458644862 | KCNH2 | n.3917C>A c.3084C>A (p.Ser1028=) c.2064C>A (p.Ser688=) c.2784C>A (p.Ser928=) c.2934C>A (p.Ser978=) c.2907C>A (p.Ser969=) | gnomAD v4 |
7 | g.150947397G>A | CA169071941 | KCNH2 | n.3916C>T c.3083C>T (p.Ser1028Phe) c.2063C>T (p.Ser688Phe) c.2783C>T (p.Ser928Phe) c.2933C>T (p.Ser978Phe) c.2906C>T (p.Ser969Phe) | dbSNP |
7 | g.150947397G>C | CA369852702 | KCNH2 | n.3916C>G c.3083C>G (p.Ser1028Cys) c.2063C>G (p.Ser688Cys) c.2783C>G (p.Ser928Cys) c.2933C>G (p.Ser978Cys) c.2906C>G (p.Ser969Cys) | |
7 | g.150947397G= | CA1752428853 | KCNH2 | n.3916C= c.3083C= (p.Ser1028=) c.2063C= (p.Ser688=) c.2783C= (p.Ser928=) c.2933C= (p.Ser978=) c.2906C= (p.Ser969=) | |
7 | g.150947397G>T | CA369852704 | KCNH2 | n.3916C>A c.3083C>A (p.Ser1028Tyr) c.2063C>A (p.Ser688Tyr) c.2783C>A (p.Ser928Tyr) c.2933C>A (p.Ser978Tyr) c.2906C>A (p.Ser969Tyr) | gnomAD v4 |
7 | g.150947398A>C | CA369852706 | KCNH2 | n.3915T>G c.3082T>G (p.Ser1028Ala) c.2062T>G (p.Ser688Ala) c.2782T>G (p.Ser928Ala) c.2932T>G (p.Ser978Ala) c.2905T>G (p.Ser969Ala) | |
7 | g.150947398A>G | CA369852707 | KCNH2 | n.3915T>C c.3082T>C (p.Ser1028Pro) c.2062T>C (p.Ser688Pro) c.2782T>C (p.Ser928Pro) c.2932T>C (p.Ser978Pro) c.2905T>C (p.Ser969Pro) | gnomAD v4 |
7 | g.150947398A>T | CA369852709 | KCNH2 | n.3915T>A c.3082T>A (p.Ser1028Thr) c.2062T>A (p.Ser688Thr) c.2782T>A (p.Ser928Thr) c.2932T>A (p.Ser978Thr) c.2905T>A (p.Ser969Thr) | gnomAD v3 gnomAD v4 |
7 | g.150947399G>A | CA458644864 | KCNH2 | n.3914C>T c.3081C>T (p.Leu1027=) c.2061C>T (p.Leu687=) c.2781C>T (p.Leu927=) c.2931C>T (p.Leu977=) c.2904C>T (p.Leu968=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947399G>C | CA458644865 | KCNH2 | n.3914C>G c.3081C>G (p.Leu1027=) c.2061C>G (p.Leu687=) c.2781C>G (p.Leu927=) c.2931C>G (p.Leu977=) c.2904C>G (p.Leu968=) | |
7 | g.150947399G= | CA1752428856 | KCNH2 | n.3914C= c.3081C= (p.Leu1027=) c.2061C= (p.Leu687=) c.2781C= (p.Leu927=) c.2931C= (p.Leu977=) c.2904C= (p.Leu968=) | |
7 | g.150947399G>T | CA458644863 | KCNH2 | n.3914C>A c.3081C>A (p.Leu1027=) c.2061C>A (p.Leu687=) c.2781C>A (p.Leu927=) c.2931C>A (p.Leu977=) c.2904C>A (p.Leu968=) | gnomAD v4 |
7 | g.150947400A= | CA1752428859 | KCNH2 | n.3913T= c.3080T= (p.Leu1027=) c.2060T= (p.Leu687=) c.2780T= (p.Leu927=) c.2930T= (p.Leu977=) c.2903T= (p.Leu968=) | |
7 | g.150947400A>C | CA369852710 | KCNH2 | n.3913T>G c.3080T>G (p.Leu1027Arg) c.2060T>G (p.Leu687Arg) c.2780T>G (p.Leu927Arg) c.2930T>G (p.Leu977Arg) c.2903T>G (p.Leu968Arg) | |
7 | g.150947400A>G | CA369852711 | KCNH2 | n.3913T>C c.3080T>C (p.Leu1027Pro) c.2060T>C (p.Leu687Pro) c.2780T>C (p.Leu927Pro) c.2930T>C (p.Leu977Pro) c.2903T>C (p.Leu968Pro) | |
7 | g.150947400A>T | CA369852712 | KCNH2 | n.3913T>A c.3080T>A (p.Leu1027His) c.2060T>A (p.Leu687His) c.2780T>A (p.Leu927His) c.2930T>A (p.Leu977His) c.2903T>A (p.Leu968His) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150947401G>A | CA369852715 | KCNH2 | n.3912C>T c.3079C>T (p.Leu1027Phe) c.2059C>T (p.Leu687Phe) c.2779C>T (p.Leu927Phe) c.2929C>T (p.Leu977Phe) c.2902C>T (p.Leu968Phe) | |
7 | g.150947401G>C | CA369852717 | KCNH2 | n.3912C>G c.3079C>G (p.Leu1027Val) c.2059C>G (p.Leu687Val) c.2779C>G (p.Leu927Val) c.2929C>G (p.Leu977Val) c.2902C>G (p.Leu968Val) | |
7 | g.150947401G= | CA1752428865 | KCNH2 | n.3912C= c.3079C= (p.Leu1027=) c.2059C= (p.Leu687=) c.2779C= (p.Leu927=) c.2929C= (p.Leu977=) c.2902C= (p.Leu968=) | |
7 | g.150947401G>T | CA007884 | KCNH2 | n.3912C>A c.3079C>A (p.Leu1027Ile) c.2059C>A (p.Leu687Ile) c.2779C>A (p.Leu927Ile) c.2929C>A (p.Leu977Ile) c.2902C>A (p.Leu968Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947405dup | CA305335 | KCNH2 | n.3912dup c.3079dup (p.Leu1027ProfsTer?) c.2059dup (p.Leu687ProfsTer?) c.2779dup (p.Leu927ProfsTer?) c.2929dup (p.Leu977ProfsTer?) c.2902dup (p.Leu968ProfsTer?) | ClinVar dbSNP |
7 | g.150947405del | CA2573332603 | KCNH2 | n.3912del c.3079del (p.Leu1027SerfsTer30) c.2059del (p.Leu687SerfsTer30) c.2779del (p.Leu927SerfsTer30) c.2929del (p.Leu977SerfsTer30) c.2902del (p.Leu968SerfsTer30) | |
7 | g.150947402G>A | CA458644866 | KCNH2 | n.3911C>T c.3078C>T (p.Pro1026=) c.2058C>T (p.Pro686=) c.2778C>T (p.Pro926=) c.2928C>T (p.Pro976=) c.2901C>T (p.Pro967=) | gnomAD v4 |
7 | g.150947402G>C | CA458644867 | KCNH2 | n.3911C>G c.3078C>G (p.Pro1026=) c.2058C>G (p.Pro686=) c.2778C>G (p.Pro926=) c.2928C>G (p.Pro976=) c.2901C>G (p.Pro967=) | |
7 | g.150947402G>T | CA458644868 | KCNH2 | n.3911C>A c.3078C>A (p.Pro1026=) c.2058C>A (p.Pro686=) c.2778C>A (p.Pro926=) c.2928C>A (p.Pro976=) c.2901C>A (p.Pro967=) | gnomAD v4 |
7 | g.150947403G>A | CA169071957 | KCNH2 | n.3910C>T c.3077C>T (p.Pro1026Leu) c.2057C>T (p.Pro686Leu) c.2777C>T (p.Pro926Leu) c.2927C>T (p.Pro976Leu) c.2900C>T (p.Pro967Leu) | dbSNP gnomAD v4 |
7 | g.150947403G>C | CA036603 | KCNH2 | n.3910C>G c.3077C>G (p.Pro1026Arg) c.2057C>G (p.Pro686Arg) c.2777C>G (p.Pro926Arg) c.2927C>G (p.Pro976Arg) c.2900C>G (p.Pro967Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947403G= | CA1752428872 | KCNH2 | n.3910C= c.3077C= (p.Pro1026=) c.2057C= (p.Pro686=) c.2777C= (p.Pro926=) c.2927C= (p.Pro976=) c.2900C= (p.Pro967=) | |
7 | g.150947403G>T | CA369852719 | KCNH2 | n.3910C>A c.3077C>A (p.Pro1026His) c.2057C>A (p.Pro686His) c.2777C>A (p.Pro926His) c.2927C>A (p.Pro976His) c.2900C>A (p.Pro967His) | |
7 | g.150947404G>A | CA169071958 | KCNH2 | n.3909C>T c.3076C>T (p.Pro1026Ser) c.2056C>T (p.Pro686Ser) c.2776C>T (p.Pro926Ser) c.2926C>T (p.Pro976Ser) c.2899C>T (p.Pro967Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.150947404G>C | CA369852722 | KCNH2 | n.3909C>G c.3076C>G (p.Pro1026Ala) c.2056C>G (p.Pro686Ala) c.2776C>G (p.Pro926Ala) c.2926C>G (p.Pro976Ala) c.2899C>G (p.Pro967Ala) | ClinVar |
7 | g.150947404G= | CA1752428876 | KCNH2 | n.3909C= c.3076C= (p.Pro1026=) c.2056C= (p.Pro686=) c.2776C= (p.Pro926=) c.2926C= (p.Pro976=) c.2899C= (p.Pro967=) | |
7 | g.150947404G>T | CA369852723 | KCNH2 | n.3909C>A c.3076C>A (p.Pro1026Thr) c.2056C>A (p.Pro686Thr) c.2776C>A (p.Pro926Thr) c.2926C>A (p.Pro976Thr) c.2899C>A (p.Pro967Thr) | gnomAD v4 |
7 | g.150947405G>A | CA169071959 | KCNH2 | n.3908C>T c.3075C>T (p.Ile1025=) c.2055C>T (p.Ile685=) c.2775C>T (p.Ile925=) c.2925C>T (p.Ile975=) c.2898C>T (p.Ile966=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947405G>C | CA369852726 | KCNH2 | n.3908C>G c.3075C>G (p.Ile1025Met) c.2055C>G (p.Ile685Met) c.2775C>G (p.Ile925Met) c.2925C>G (p.Ile975Met) c.2898C>G (p.Ile966Met) | gnomAD v4 |
7 | g.150947405G= | CA1752428881 | KCNH2 | n.3908C= c.3075C= (p.Ile1025=) c.2055C= (p.Ile685=) c.2775C= (p.Ile925=) c.2925C= (p.Ile975=) c.2898C= (p.Ile966=) | |
7 | g.150947405G>T | CA169071961 | KCNH2 | n.3908C>A c.3075C>A (p.Ile1025=) c.2055C>A (p.Ile685=) c.2775C>A (p.Ile925=) c.2925C>A (p.Ile975=) c.2898C>A (p.Ile966=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150947406A>C | CA369852728 | KCNH2 | n.3907T>G c.3074T>G (p.Ile1025Ser) c.2054T>G (p.Ile685Ser) c.2774T>G (p.Ile925Ser) c.2924T>G (p.Ile975Ser) c.2897T>G (p.Ile966Ser) | |
7 | g.150947406A>G | CA369852730 | KCNH2 | n.3907T>C c.3074T>C (p.Ile1025Thr) c.2054T>C (p.Ile685Thr) c.2774T>C (p.Ile925Thr) c.2924T>C (p.Ile975Thr) c.2897T>C (p.Ile966Thr) | gnomAD v4 |
7 | g.150947406A>T | CA369852732 | KCNH2 | n.3907T>A c.3074T>A (p.Ile1025Asn) c.2054T>A (p.Ile685Asn) c.2774T>A (p.Ile925Asn) c.2924T>A (p.Ile975Asn) c.2897T>A (p.Ile966Asn) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150947407T>A | CA369852733 | KCNH2 | n.3906A>T c.3073A>T (p.Ile1025Phe) c.2053A>T (p.Ile685Phe) c.2773A>T (p.Ile925Phe) c.2923A>T (p.Ile975Phe) c.2896A>T (p.Ile966Phe) | gnomAD v4 |
7 | g.150947407T>C | CA369852734 | KCNH2 | n.3906A>G c.3073A>G (p.Ile1025Val) c.2053A>G (p.Ile685Val) c.2773A>G (p.Ile925Val) c.2923A>G (p.Ile975Val) c.2896A>G (p.Ile966Val) | dbSNP gnomAD v4 |
7 | g.150947407T>G | CA369852736 | KCNH2 | n.3906A>C c.3073A>C (p.Ile1025Leu) c.2053A>C (p.Ile685Leu) c.2773A>C (p.Ile925Leu) c.2923A>C (p.Ile975Leu) c.2896A>C (p.Ile966Leu) | ClinVar gnomAD v3 gnomAD v4 |
7 | g.150947407T= | CA1752428885 | KCNH2 | n.3906A= c.3073A= (p.Ile1025=) c.2053A= (p.Ile685=) c.2773A= (p.Ile925=) c.2923A= (p.Ile975=) c.2896A= (p.Ile966=) | |
7 | g.150947408G>A | CA036489 | KCNH2 | n.3905C>T c.3072C>T (p.Asn1024=) c.2052C>T (p.Asn684=) c.2772C>T (p.Asn924=) c.2922C>T (p.Asn974=) c.2895C>T (p.Asn965=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150947408G>C | CA369852739 | KCNH2 | n.3905C>G c.3072C>G (p.Asn1024Lys) c.2052C>G (p.Asn684Lys) c.2772C>G (p.Asn924Lys) c.2922C>G (p.Asn974Lys) c.2895C>G (p.Asn965Lys) | |
7 | g.150947408G= | CA1752428889 | KCNH2 | n.3905C= c.3072C= (p.Asn1024=) c.2052C= (p.Asn684=) c.2772C= (p.Asn924=) c.2922C= (p.Asn974=) c.2895C= (p.Asn965=) | |
7 | g.150947408G>T | CA369852738 | KCNH2 | n.3905C>A c.3072C>A (p.Asn1024Lys) c.2052C>A (p.Asn684Lys) c.2772C>A (p.Asn924Lys) c.2922C>A (p.Asn974Lys) c.2895C>A (p.Asn965Lys) | gnomAD v4 |
7 | g.150947409T>A | CA369852741 | KCNH2 | n.3904A>T c.3071A>T (p.Asn1024Ile) c.2051A>T (p.Asn684Ile) c.2771A>T (p.Asn924Ile) c.2921A>T (p.Asn974Ile) c.2894A>T (p.Asn965Ile) | |
7 | g.150947409T>C | CA369852742 | KCNH2 | n.3904A>G c.3071A>G (p.Asn1024Ser) c.2051A>G (p.Asn684Ser) c.2771A>G (p.Asn924Ser) c.2921A>G (p.Asn974Ser) c.2894A>G (p.Asn965Ser) | ClinVar dbSNP |
7 | g.150947409T>G | CA369852743 | KCNH2 | n.3904A>C c.3071A>C (p.Asn1024Thr) c.2051A>C (p.Asn684Thr) c.2771A>C (p.Asn924Thr) c.2921A>C (p.Asn974Thr) c.2894A>C (p.Asn965Thr) | |
7 | g.150947409T= | CA1752428894 | KCNH2 | n.3904A= c.3071A= (p.Asn1024=) c.2051A= (p.Asn684=) c.2771A= (p.Asn924=) c.2921A= (p.Asn974=) c.2894A= (p.Asn965=) | |
7 | g.150947410T>A | CA369852745 | KCNH2 | n.3903A>T c.3070A>T (p.Asn1024Tyr) c.2050A>T (p.Asn684Tyr) c.2770A>T (p.Asn924Tyr) c.2920A>T (p.Asn974Tyr) c.2893A>T (p.Asn965Tyr) | ClinVar dbSNP |
7 | g.150947410T>C | CA369852746 | KCNH2 | n.3903A>G c.3070A>G (p.Asn1024Asp) c.2050A>G (p.Asn684Asp) c.2770A>G (p.Asn924Asp) c.2920A>G (p.Asn974Asp) c.2893A>G (p.Asn965Asp) | |
7 | g.150947410T>G | CA369852748 | KCNH2 | n.3903A>C c.3070A>C (p.Asn1024His) c.2050A>C (p.Asn684His) c.2770A>C (p.Asn924His) c.2920A>C (p.Asn974His) c.2893A>C (p.Asn965His) | gnomAD v3 gnomAD v4 |
7 | g.150947410T= | CA1752428897 | KCNH2 | n.3903A= c.3070A= (p.Asn1024=) c.2050A= (p.Asn684=) c.2770A= (p.Asn924=) c.2920A= (p.Asn974=) c.2893A= (p.Asn965=) | |
7 | g.150947410_150947413delinsTGAG | CA1752428895 | KCNH2 | n.3900_3903delinsCTCA c.3067_3070delinsCTCA (p.Leu1023=) c.2047_2050delinsCTCA (p.Leu683=) c.2767_2770delinsCTCA (p.Leu923=) c.2917_2920delinsCTCA (p.Leu973=) c.2890_2893delinsCTCA (p.Leu964=) | |
7 | g.150947411G>A | CA458644870 | KCNH2 | n.3902C>T c.3069C>T (p.Leu1023=) c.2049C>T (p.Leu683=) c.2769C>T (p.Leu923=) c.2919C>T (p.Leu973=) c.2892C>T (p.Leu964=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947411G>C | CA458644871 | KCNH2 | n.3902C>G c.3069C>G (p.Leu1023=) c.2049C>G (p.Leu683=) c.2769C>G (p.Leu923=) c.2919C>G (p.Leu973=) c.2892C>G (p.Leu964=) | |
7 | g.150947411G= | CA1752428902 | KCNH2 | n.3902C= c.3069C= (p.Leu1023=) c.2049C= (p.Leu683=) c.2769C= (p.Leu923=) c.2919C= (p.Leu973=) c.2892C= (p.Leu964=) | |
7 | g.150947411G>T | CA458644872 | KCNH2 | n.3902C>A c.3069C>A (p.Leu1023=) c.2049C>A (p.Leu683=) c.2769C>A (p.Leu923=) c.2919C>A (p.Leu973=) c.2892C>A (p.Leu964=) | gnomAD v4 |
7 | g.150947415_150947417del | CA835221438 | KCNH2 | n.3900_3902del c.3067_3069del (p.Leu1023del) c.2047_2049del (p.Leu683del) c.2767_2769del (p.Leu923del) c.2917_2919del (p.Leu973del) c.2890_2892del (p.Leu964del) | ClinVar dbSNP gnomAD v4 |
7 | g.150947412A= | CA1752428904 | KCNH2 | n.3901T= c.3068T= (p.Leu1023=) c.2048T= (p.Leu683=) c.2768T= (p.Leu923=) c.2918T= (p.Leu973=) c.2891T= (p.Leu964=) | |
7 | g.150947412A>C | CA369852750 | KCNH2 | n.3901T>G c.3068T>G (p.Leu1023Arg) c.2048T>G (p.Leu683Arg) c.2768T>G (p.Leu923Arg) c.2918T>G (p.Leu973Arg) c.2891T>G (p.Leu964Arg) | |
7 | g.150947412A>G | CA369852752 | KCNH2 | n.3901T>C c.3068T>C (p.Leu1023Pro) c.2048T>C (p.Leu683Pro) c.2768T>C (p.Leu923Pro) c.2918T>C (p.Leu973Pro) c.2891T>C (p.Leu964Pro) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947412A>T | CA369852753 | KCNH2 | n.3901T>A c.3068T>A (p.Leu1023His) c.2048T>A (p.Leu683His) c.2768T>A (p.Leu923His) c.2918T>A (p.Leu973His) c.2891T>A (p.Leu964His) | dbSNP gnomAD v4 |
7 | g.150947413G>A | CA369852755 | KCNH2 | n.3900C>T c.3067C>T (p.Leu1023Phe) c.2047C>T (p.Leu683Phe) c.2767C>T (p.Leu923Phe) c.2917C>T (p.Leu973Phe) c.2890C>T (p.Leu964Phe) | gnomAD v4 |
7 | g.150947413G>C | CA369852757 | KCNH2 | n.3900C>G c.3067C>G (p.Leu1023Val) c.2047C>G (p.Leu683Val) c.2767C>G (p.Leu923Val) c.2917C>G (p.Leu973Val) c.2890C>G (p.Leu964Val) | ClinVar |
7 | g.150947413G>T | CA369852758 | KCNH2 | n.3900C>A c.3067C>A (p.Leu1023Ile) c.2047C>A (p.Leu683Ile) c.2767C>A (p.Leu923Ile) c.2917C>A (p.Leu973Ile) c.2890C>A (p.Leu964Ile) | |
7 | g.150947414G>A | CA169071975 | KCNH2 | n.3899C>T c.3066C>T (p.Leu1022=) c.2046C>T (p.Leu682=) c.2766C>T (p.Leu922=) c.2916C>T (p.Leu972=) c.2889C>T (p.Leu963=) | dbSNP |
7 | g.150947414G>C | CA458644873 | KCNH2 | n.3899C>G c.3066C>G (p.Leu1022=) c.2046C>G (p.Leu682=) c.2766C>G (p.Leu922=) c.2916C>G (p.Leu972=) c.2889C>G (p.Leu963=) | |
7 | g.150947414G= | CA1752428908 | KCNH2 | n.3899C= c.3066C= (p.Leu1022=) c.2046C= (p.Leu682=) c.2766C= (p.Leu922=) c.2916C= (p.Leu972=) c.2889C= (p.Leu963=) | |
7 | g.150947414G>T | CA458644874 | KCNH2 | n.3899C>A c.3066C>A (p.Leu1022=) c.2046C>A (p.Leu682=) c.2766C>A (p.Leu922=) c.2916C>A (p.Leu972=) c.2889C>A (p.Leu963=) | |
7 | g.150947415del | CA2695208793 | KCNH2 | n.3898del c.3065del (p.Leu1022ProfsTer?) c.2045del (p.Leu682ProfsTer?) c.2765del (p.Leu922ProfsTer?) c.2915del (p.Leu972ProfsTer?) c.2888del (p.Leu963ProfsTer?) | |
7 | g.150947415A= | CA1752428912 | KCNH2 | n.3898T= c.3065T= (p.Leu1022=) c.2045T= (p.Leu682=) c.2765T= (p.Leu922=) c.2915T= (p.Leu972=) c.2888T= (p.Leu963=) | |
7 | g.150947415A>C | CA369852760 | KCNH2 | n.3898T>G c.3065T>G (p.Leu1022Arg) c.2045T>G (p.Leu682Arg) c.2765T>G (p.Leu922Arg) c.2915T>G (p.Leu972Arg) c.2888T>G (p.Leu963Arg) | dbSNP gnomAD v4 |
7 | g.150947415A>G | CA369852761 | KCNH2 | n.3898T>C c.3065T>C (p.Leu1022Pro) c.2045T>C (p.Leu682Pro) c.2765T>C (p.Leu922Pro) c.2915T>C (p.Leu972Pro) c.2888T>C (p.Leu963Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.150947415A>T | CA369852763 | KCNH2 | n.3898T>A c.3065T>A (p.Leu1022His) c.2045T>A (p.Leu682His) c.2765T>A (p.Leu922His) c.2915T>A (p.Leu972His) c.2888T>A (p.Leu963His) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.150947416G>A | CA369852765 | KCNH2 | n.3897C>T c.3064C>T (p.Leu1022Phe) c.2044C>T (p.Leu682Phe) c.2764C>T (p.Leu922Phe) c.2914C>T (p.Leu972Phe) c.2887C>T (p.Leu963Phe) | dbSNP gnomAD v2 |
7 | g.150947416G>C | CA369852766 | KCNH2 | n.3897C>G c.3064C>G (p.Leu1022Val) c.2044C>G (p.Leu682Val) c.2764C>G (p.Leu922Val) c.2914C>G (p.Leu972Val) c.2887C>G (p.Leu963Val) | |
7 | g.150947416G= | CA1752429211 | KCNH2 | n.3897C= c.3064C= (p.Leu1022=) c.2044C= (p.Leu682=) c.2764C= (p.Leu922=) c.2914C= (p.Leu972=) c.2887C= (p.Leu963=) | |
7 | g.150947416G>T | CA369852767 | KCNH2 | n.3897C>A c.3064C>A (p.Leu1022Ile) c.2044C>A (p.Leu682Ile) c.2764C>A (p.Leu922Ile) c.2914C>A (p.Leu972Ile) c.2887C>A (p.Leu963Ile) | gnomAD v4 |
7 | g.150947417G>A | CA036406 | KCNH2 | n.3896C>T c.3063C>T (p.Ser1021=) c.2043C>T (p.Ser681=) c.2763C>T (p.Ser921=) c.2913C>T (p.Ser971=) c.2886C>T (p.Ser962=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947417G>C | CA369852770 | KCNH2 | n.3896C>G c.3063C>G (p.Ser1021Arg) c.2043C>G (p.Ser681Arg) c.2763C>G (p.Ser921Arg) c.2913C>G (p.Ser971Arg) c.2886C>G (p.Ser962Arg) | |
7 | g.150947417G= | CA1752429215 | KCNH2 | n.3896C= c.3063C= (p.Ser1021=) c.2043C= (p.Ser681=) c.2763C= (p.Ser921=) c.2913C= (p.Ser971=) c.2886C= (p.Ser962=) | |
7 | g.150947417G>T | CA369852771 | KCNH2 | n.3896C>A c.3063C>A (p.Ser1021Arg) c.2043C>A (p.Ser681Arg) c.2763C>A (p.Ser921Arg) c.2913C>A (p.Ser971Arg) c.2886C>A (p.Ser962Arg) | gnomAD v4 |
7 | g.150947418C>A | CA369852773 | KCNH2 | n.3895G>T c.3062G>T (p.Ser1021Ile) c.2042G>T (p.Ser681Ile) c.2762G>T (p.Ser921Ile) c.2912G>T (p.Ser971Ile) c.2885G>T (p.Ser962Ile) | gnomAD v4 |
7 | g.150947418C= | CA1752429220 | KCNH2 | n.3895G= c.3062G= (p.Ser1021=) c.2042G= (p.Ser681=) c.2762G= (p.Ser921=) c.2912G= (p.Ser971=) c.2885G= (p.Ser962=) | |
7 | g.150947418C>G | CA369852775 | KCNH2 | n.3895G>C c.3062G>C (p.Ser1021Thr) c.2042G>C (p.Ser681Thr) c.2762G>C (p.Ser921Thr) c.2912G>C (p.Ser971Thr) c.2885G>C (p.Ser962Thr) | gnomAD v4 |
7 | g.150947418C>T | CA369852777 | KCNH2 | n.3895G>A c.3062G>A (p.Ser1021Asn) c.2042G>A (p.Ser681Asn) c.2762G>A (p.Ser921Asn) c.2912G>A (p.Ser971Asn) c.2885G>A (p.Ser962Asn) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947418_150947419del | CA2685601932 | KCNH2 | n.3894_3895del c.3061_3062del (p.Ser1021ProfsTer?) c.2041_2042del (p.Ser681ProfsTer?) c.2761_2762del (p.Ser921ProfsTer?) c.2911_2912del (p.Ser971ProfsTer?) c.2884_2885del (p.Ser962ProfsTer?) | gnomAD v4 |
7 | g.150947419T>A | CA369852780 | KCNH2 | n.3894A>T c.3061A>T (p.Ser1021Cys) c.2041A>T (p.Ser681Cys) c.2761A>T (p.Ser921Cys) c.2911A>T (p.Ser971Cys) c.2884A>T (p.Ser962Cys) | |
7 | g.150947419T>C | CA369852782 | KCNH2 | n.3894A>G c.3061A>G (p.Ser1021Gly) c.2041A>G (p.Ser681Gly) c.2761A>G (p.Ser921Gly) c.2911A>G (p.Ser971Gly) c.2884A>G (p.Ser962Gly) | ClinVar dbSNP gnomAD v4 |
7 | g.150947419T>G | CA369852778 | KCNH2 | n.3894A>C c.3061A>C (p.Ser1021Arg) c.2041A>C (p.Ser681Arg) c.2761A>C (p.Ser921Arg) c.2911A>C (p.Ser971Arg) c.2884A>C (p.Ser962Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150947419T= | CA1752429226 | KCNH2 | n.3894A= c.3061A= (p.Ser1021=) c.2041A= (p.Ser681=) c.2761A= (p.Ser921=) c.2911A= (p.Ser971=) c.2884A= (p.Ser962=) | |
7 | g.150947419_150947420delinsTG | CA1752429225 | KCNH2 | n.3893_3894delinsCA c.3060_3061delinsCA (p.Pro1020=) c.2040_2041delinsCA (p.Pro680=) c.2760_2761delinsCA (p.Pro920=) c.2910_2911delinsCA (p.Pro970=) c.2883_2884delinsCA (p.Pro961=) | |
7 | g.150947425_150947430del | CA2685601933 | KCNH2 | n.3889_3894del c.3056_3061del (p.Thr1019_Pro1020del) c.2036_2041del (p.Thr679_Pro680del) c.2756_2761del (p.Thr919_Pro920del) c.2906_2911del (p.Thr969_Pro970del) c.2879_2884del (p.Thr960_Pro961del) | gnomAD v4 |
7 | g.150947420G>A | CA458644880 | KCNH2 | n.3893C>T c.3060C>T (p.Pro1020=) c.2040C>T (p.Pro680=) c.2760C>T (p.Pro920=) c.2910C>T (p.Pro970=) c.2883C>T (p.Pro961=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947420G>C | CA458644881 | KCNH2 | n.3893C>G c.3060C>G (p.Pro1020=) c.2040C>G (p.Pro680=) c.2760C>G (p.Pro920=) c.2910C>G (p.Pro970=) c.2883C>G (p.Pro961=) | |
7 | g.150947420G= | CA1752429234 | KCNH2 | n.3893C= c.3060C= (p.Pro1020=) c.2040C= (p.Pro680=) c.2760C= (p.Pro920=) c.2910C= (p.Pro970=) c.2883C= (p.Pro961=) | |
7 | g.150947420G>T | CA458644879 | KCNH2 | n.3893C>A c.3060C>A (p.Pro1020=) c.2040C>A (p.Pro680=) c.2760C>A (p.Pro920=) c.2910C>A (p.Pro970=) c.2883C>A (p.Pro961=) | gnomAD v4 |
7 | g.150947424_150947425insGGGGGGGGGG | CA2685601935 | KCNH2 | n.3893_3894insCCCCCCCCCC c.3060_3061insCCCCCCCCCC (p.Ser1021ProfsTer?) c.2040_2041insCCCCCCCCCC (p.Ser681ProfsTer?) c.2760_2761insCCCCCCCCCC (p.Ser921ProfsTer?) c.2910_2911insCCCCCCCCCC (p.Ser971ProfsTer?) c.2883_2884insCCCCCCCCCC (p.Ser962ProfsTer?) | gnomAD v4 |
7 | g.150947424dup | CA16618398 | KCNH2 | n.3893dup c.3060dup (p.Ser1021GlnfsTer?) c.2040dup (p.Ser681GlnfsTer?) c.2760dup (p.Ser921GlnfsTer?) c.2910dup (p.Ser971GlnfsTer?) c.2883dup (p.Ser962GlnfsTer?) | ClinVar dbSNP |
7 | g.150947424del | CA349145 | KCNH2 | n.3893del c.3060del (p.Ser1021AlafsTer?) c.2040del (p.Ser681AlafsTer?) c.2760del (p.Ser921AlafsTer?) c.2910del (p.Ser971AlafsTer?) c.2883del (p.Ser962AlafsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947421_150947430dup | CA2685601934 | KCNH2 | n.3884_3893dup c.3051_3060dup (p.Ser1021ProfsTer?) c.2031_2040dup (p.Ser681ProfsTer?) c.2751_2760dup (p.Ser921ProfsTer?) c.2901_2910dup (p.Ser971ProfsTer?) c.2874_2883dup (p.Ser962ProfsTer?) | gnomAD v4 |
7 | g.150947421G>A | CA169071997 | KCNH2 | n.3892C>T c.3059C>T (p.Pro1020Leu) c.2039C>T (p.Pro680Leu) c.2759C>T (p.Pro920Leu) c.2909C>T (p.Pro970Leu) c.2882C>T (p.Pro961Leu) | dbSNP gnomAD v2 |
7 | g.150947421G>C | CA369852783 | KCNH2 | n.3892C>G c.3059C>G (p.Pro1020Arg) c.2039C>G (p.Pro680Arg) c.2759C>G (p.Pro920Arg) c.2909C>G (p.Pro970Arg) c.2882C>G (p.Pro961Arg) | |
7 | g.150947421G= | CA1752429241 | KCNH2 | n.3892C= c.3059C= (p.Pro1020=) c.2039C= (p.Pro680=) c.2759C= (p.Pro920=) c.2909C= (p.Pro970=) c.2882C= (p.Pro961=) | |
7 | g.150947421G>T | CA369852785 | KCNH2 | n.3892C>A c.3059C>A (p.Pro1020His) c.2039C>A (p.Pro680His) c.2759C>A (p.Pro920His) c.2909C>A (p.Pro970His) c.2882C>A (p.Pro961His) | gnomAD v4 |
7 | g.150947422G>A | CA10623452 | KCNH2 | n.3891C>T c.3058C>T (p.Pro1020Ser) c.2038C>T (p.Pro680Ser) c.2758C>T (p.Pro920Ser) c.2908C>T (p.Pro970Ser) c.2881C>T (p.Pro961Ser) | ClinVar dbSNP gnomAD v4 |
7 | g.150947422G>C | CA369852787 | KCNH2 | n.3891C>G c.3058C>G (p.Pro1020Ala) c.2038C>G (p.Pro680Ala) c.2758C>G (p.Pro920Ala) c.2908C>G (p.Pro970Ala) c.2881C>G (p.Pro961Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947422G= | CA1752429247 | KCNH2 | n.3891C= c.3058C= (p.Pro1020=) c.2038C= (p.Pro680=) c.2758C= (p.Pro920=) c.2908C= (p.Pro970=) c.2881C= (p.Pro961=) | |
7 | g.150947422G>T | CA369852789 | KCNH2 | n.3891C>A c.3058C>A (p.Pro1020Thr) c.2038C>A (p.Pro680Thr) c.2758C>A (p.Pro920Thr) c.2908C>A (p.Pro970Thr) c.2881C>A (p.Pro961Thr) | gnomAD v4 |
7 | g.150947423G>A | CA169072004 | KCNH2 | n.3890C>T c.3057C>T (p.Thr1019=) c.2037C>T (p.Thr679=) c.2757C>T (p.Thr919=) c.2907C>T (p.Thr969=) c.2880C>T (p.Thr960=) | ClinVar dbSNP gnomAD v4 |
7 | g.150947423G>C | CA458644883 | KCNH2 | n.3890C>G c.3057C>G (p.Thr1019=) c.2037C>G (p.Thr679=) c.2757C>G (p.Thr919=) c.2907C>G (p.Thr969=) c.2880C>G (p.Thr960=) | |
7 | g.150947423G= | CA1752429250 | KCNH2 | n.3890C= c.3057C= (p.Thr1019=) c.2037C= (p.Thr679=) c.2757C= (p.Thr919=) c.2907C= (p.Thr969=) c.2880C= (p.Thr960=) | |
7 | g.150947423G>T | CA458644882 | KCNH2 | n.3890C>A c.3057C>A (p.Thr1019=) c.2037C>A (p.Thr679=) c.2757C>A (p.Thr919=) c.2907C>A (p.Thr969=) c.2880C>A (p.Thr960=) | gnomAD v4 |
7 | g.150947424G>A | CA369852791 | KCNH2 | n.3889C>T c.3056C>T (p.Thr1019Ile) c.2036C>T (p.Thr679Ile) c.2756C>T (p.Thr919Ile) c.*136C>T (n.*136C>T) c.2906C>T (p.Thr969Ile) c.2879C>T (p.Thr960Ile) | gnomAD v4 |
7 | g.150947424G>C | CA369852792 | KCNH2 | n.3889C>G c.3056C>G (p.Thr1019Ser) c.2036C>G (p.Thr679Ser) c.2756C>G (p.Thr919Ser) c.*136C>G (n.*136C>G) c.2906C>G (p.Thr969Ser) c.2879C>G (p.Thr960Ser) | |
7 | g.150947424G>T | CA369852794 | KCNH2 | n.3889C>A c.3056C>A (p.Thr1019Asn) c.2036C>A (p.Thr679Asn) c.2756C>A (p.Thr919Asn) c.*136C>A (n.*136C>A) c.2906C>A (p.Thr969Asn) c.2879C>A (p.Thr960Asn) | gnomAD v4 |
7 | g.150947425T>A | CA369852796 | KCNH2 | n.3888A>T c.3055A>T (p.Thr1019Ser) c.2035A>T (p.Thr679Ser) c.2755A>T (p.Thr919Ser) c.*135A>T (n.*135A>T) c.2905A>T (p.Thr969Ser) c.2878A>T (p.Thr960Ser) | |
7 | g.150947425T>C | CA369852798 | KCNH2 | n.3888A>G c.3055A>G (p.Thr1019Ala) c.2035A>G (p.Thr679Ala) c.2755A>G (p.Thr919Ala) c.*135A>G (n.*135A>G) c.2905A>G (p.Thr969Ala) c.2878A>G (p.Thr960Ala) | |
7 | g.150947425T>G | CA369852799 | KCNH2 | n.3888A>C c.3055A>C (p.Thr1019Pro) c.2035A>C (p.Thr679Pro) c.2755A>C (p.Thr919Pro) c.*135A>C (n.*135A>C) c.2905A>C (p.Thr969Pro) c.2878A>C (p.Thr960Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150947425T= | CA1752429257 | KCNH2 | n.3888A= c.3055A= (p.Thr1019=) c.2035A= (p.Thr679=) c.2755A= (p.Thr919=) c.*135A= (n.*135A=) c.2905A= (p.Thr969=) c.2878A= (p.Thr960=) | |
7 | g.150947425_150947426delinsTG | CA1752429254 | KCNH2 | n.3887_3888delinsCA c.3054_3055delinsCA (p.Pro1018=) c.2034_2035delinsCA (p.Pro678=) c.2754_2755delinsCA (p.Pro918=) c.*134_*135delinsCA (n.*134_*135delinsCA) c.2904_2905delinsCA (p.Pro968=) c.2877_2878delinsCA (p.Pro959=) | |
7 | g.150947425_150947431delinsTGGGGGC | CA1752429255 | KCNH2 | n.3882_3888delinsGCCCCCA c.3049_3055delinsGCCCCCA (p.Ala1017=) c.2029_2035delinsGCCCCCA (p.Ala677=) c.2749_2755delinsGCCCCCA (p.Ala917=) c.*129_*135delinsGCCCCCA (n.*129_*135delinsGCCCCCA) c.2899_2905delinsGCCCCCA (p.Ala967=) c.2872_2878delinsGCCCCCA (p.Ala958=) | |
7 | g.150947425_150947426insTTGTGGCGGTGGGGGGGGGG | CA2685601940 | KCNH2 | n.3887_3888insCCCCCCCCCCACCGCCACAA c.3054_3055insCCCCCCCCCCACCGCCACAA (p.Thr1019ProfsTer?) c.2034_2035insCCCCCCCCCCACCGCCACAA (p.Thr679ProfsTer?) c.2754_2755insCCCCCCCCCCACCGCCACAA (p.Thr919ProfsTer?) c.*134_*135insCCCCCCCCCCACCGCCACAA (n.*134_*135insCCCCCCCCCCACCGCCACAA) c.2904_2905insCCCCCCCCCCACCGCCACAA (p.Thr969ProfsTer?) c.2877_2878insCCCCCCCCCCACCGCCACAA (p.Thr960ProfsTer?) | gnomAD v4 |
7 | g.150947426G>A | CA458644885 | KCNH2 | n.3887C>T c.3054C>T (p.Pro1018=) c.2034C>T (p.Pro678=) c.2754C>T (p.Pro918=) c.*134C>T (n.*134C>T) c.2904C>T (p.Pro968=) c.2877C>T (p.Pro959=) | ClinVar dbSNP |
7 | g.150947426G>C | CA458644886 | KCNH2 | n.3887C>G c.3054C>G (p.Pro1018=) c.2034C>G (p.Pro678=) c.2754C>G (p.Pro918=) c.*134C>G (n.*134C>G) c.2904C>G (p.Pro968=) c.2877C>G (p.Pro959=) | dbSNP gnomAD v2 |
7 | g.150947426G= | CA1752429264 | KCNH2 | n.3887C= c.3054C= (p.Pro1018=) c.2034C= (p.Pro678=) c.2754C= (p.Pro918=) c.*134C= (n.*134C=) c.2904C= (p.Pro968=) c.2877C= (p.Pro959=) | |
7 | g.150947426G>T | CA458644887 | KCNH2 | n.3887C>A c.3054C>A (p.Pro1018=) c.2034C>A (p.Pro678=) c.2754C>A (p.Pro918=) c.*134C>A (n.*134C>A) c.2904C>A (p.Pro968=) c.2877C>A (p.Pro959=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947428_150947429insTGGGGGGGGG | CA2685601939 | KCNH2 | n.3887_3888insCCCCCCACCC c.3054_3055insCCCCCCACCC (p.Thr1019ProfsTer?) c.2034_2035insCCCCCCACCC (p.Thr679ProfsTer?) c.2754_2755insCCCCCCACCC (p.Thr919ProfsTer?) c.*134_*135insCCCCCCACCC (n.*134_*135insCCCCCCACCC) c.2904_2905insCCCCCCACCC (p.Thr969ProfsTer?) c.2877_2878insCCCCCCACCC (p.Thr960ProfsTer?) | gnomAD v4 |
7 | g.150947430_150947431insGGGGGG | CA2685601945 | KCNH2 | n.3887_3888insCCCCCC c.3054_3055insCCCCCC (p.Pro1018_Thr1019insProPro) c.2034_2035insCCCCCC (p.Pro678_Thr679insProPro) c.2754_2755insCCCCCC (p.Pro918_Thr919insProPro) c.*134_*135insCCCCCC (n.*134_*135insCCCCCC) c.2904_2905insCCCCCC (p.Pro968_Thr969insProPro) c.2877_2878insCCCCCC (p.Pro959_Thr960insProPro) | gnomAD v4 |
7 | g.150947430_150947431insGGGGGGG | CA913188232 | KCNH2 | n.3887_3888insCCCCCCC c.3054_3055insCCCCCCC (p.Thr1019ProfsTer?) c.2034_2035insCCCCCCC (p.Thr679ProfsTer?) c.2754_2755insCCCCCCC (p.Thr919ProfsTer?) c.*134_*135insCCCCCCC (n.*134_*135insCCCCCCC) c.2904_2905insCCCCCCC (p.Thr969ProfsTer?) c.2877_2878insCCCCCCC (p.Thr960ProfsTer?) | ClinVar gnomAD v4 |
7 | g.150947430_150947431insGGGGGGGGGG | CA2685601948 | KCNH2 | n.3887_3888insCCCCCCCCCC c.3054_3055insCCCCCCCCCC (p.Thr1019ProfsTer?) c.2034_2035insCCCCCCCCCC (p.Thr679ProfsTer?) c.2754_2755insCCCCCCCCCC (p.Thr919ProfsTer?) c.*134_*135insCCCCCCCCCC (n.*134_*135insCCCCCCCCCC) c.2904_2905insCCCCCCCCCC (p.Thr969ProfsTer?) c.2877_2878insCCCCCCCCCC (p.Thr960ProfsTer?) | gnomAD v4 |
7 | g.150947430_150947431insGGGGGGGGGGG | CA2685601946 | KCNH2 | n.3887_3888insCCCCCCCCCCC c.3054_3055insCCCCCCCCCCC (p.Thr1019ProfsTer?) c.2034_2035insCCCCCCCCCCC (p.Thr679ProfsTer?) c.2754_2755insCCCCCCCCCCC (p.Thr919ProfsTer?) c.*134_*135insCCCCCCCCCCC (n.*134_*135insCCCCCCCCCCC) c.2904_2905insCCCCCCCCCCC (p.Thr969ProfsTer?) c.2877_2878insCCCCCCCCCCC (p.Thr960ProfsTer?) | gnomAD v4 |
7 | g.150947430_150947431insGGGGGGGGGGGGG | CA2685601941 | KCNH2 | n.3887_3888insCCCCCCCCCCCCC c.3054_3055insCCCCCCCCCCCCC (p.Thr1019ProfsTer?) c.2034_2035insCCCCCCCCCCCCC (p.Thr679ProfsTer?) c.2754_2755insCCCCCCCCCCCCC (p.Thr919ProfsTer?) c.*134_*135insCCCCCCCCCCCCC (n.*134_*135insCCCCCCCCCCCCC) c.2904_2905insCCCCCCCCCCCCC (p.Thr969ProfsTer?) c.2877_2878insCCCCCCCCCCCCC (p.Thr960ProfsTer?) | gnomAD v4 |
7 | g.150947430_150947431insGGGGGGGGGGGGGGG | CA2685601947 | KCNH2 | n.3887_3888insCCCCCCCCCCCCCCC c.3054_3055insCCCCCCCCCCCCCCC (p.Pro1018_Thr1019insProProProProPro) c.2034_2035insCCCCCCCCCCCCCCC (p.Pro678_Thr679insProProProProPro) c.2754_2755insCCCCCCCCCCCCCCC (p.Pro918_Thr919insProProProProPro) c.*134_*135insCCCCCCCCCCCCCCC (n.*134_*135insCCCCCCCCCCCCCCC) c.2904_2905insCCCCCCCCCCCCCCC (p.Pro968_Thr969insProProProProPro) c.2877_2878insCCCCCCCCCCCCCCC (p.Pro959_Thr960insProProProProPro) | gnomAD v4 |
7 | g.150947430_150947431insGGGGGGGGGGGGGGGG | CA2685601942 | KCNH2 | n.3887_3888insCCCCCCCCCCCCCCCC c.3054_3055insCCCCCCCCCCCCCCCC (p.Thr1019ProfsTer?) c.2034_2035insCCCCCCCCCCCCCCCC (p.Thr679ProfsTer?) c.2754_2755insCCCCCCCCCCCCCCCC (p.Thr919ProfsTer?) c.*134_*135insCCCCCCCCCCCCCCCC (n.*134_*135insCCCCCCCCCCCCCCCC) c.2904_2905insCCCCCCCCCCCCCCCC (p.Thr969ProfsTer?) c.2877_2878insCCCCCCCCCCCCCCCC (p.Thr960ProfsTer?) | dbSNP gnomAD v4 |
7 | g.150947430_150947431insGGGGGGGGGGGGGGGGGG | CA2685601943 | KCNH2 | n.3887_3888insCCCCCCCCCCCCCCCCCC c.3054_3055insCCCCCCCCCCCCCCCCCC (p.Pro1018_Thr1019insProProProProProPro) c.2034_2035insCCCCCCCCCCCCCCCCCC (p.Pro678_Thr679insProProProProProPro) c.2754_2755insCCCCCCCCCCCCCCCCCC (p.Pro918_Thr919insProProProProProPro) c.*134_*135insCCCCCCCCCCCCCCCCCC (n.*134_*135insCCCCCCCCCCCCCCCCCC) c.2904_2905insCCCCCCCCCCCCCCCCCC (p.Pro968_Thr969insProProProProProPro) c.2877_2878insCCCCCCCCCCCCCCCCCC (p.Pro959_Thr960insProProProProProPro) | gnomAD v4 |
7 | g.150947430_150947431insGGGGGGGGGGGGGGGGGGGGG | CA2778425795 | KCNH2 | n.3887_3888insCCCCCCCCCCCCCCCCCCCCC c.3054_3055insCCCCCCCCCCCCCCCCCCCCC (p.Pro1018_Thr1019insProProProProProProPro) c.2034_2035insCCCCCCCCCCCCCCCCCCCCC (p.Pro678_Thr679insProProProProProProPro) c.2754_2755insCCCCCCCCCCCCCCCCCCCCC (p.Pro918_Thr919insProProProProProProPro) c.*134_*135insCCCCCCCCCCCCCCCCCCCCC (n.*134_*135insCCCCCCCCCCCCCCCCCCCCC) c.2904_2905insCCCCCCCCCCCCCCCCCCCCC (p.Pro968_Thr969insProProProProProProPro) c.2877_2878insCCCCCCCCCCCCCCCCCCCCC (p.Pro959_Thr960insProProProProProProPro) | |
7 | g.150947430_150947431insTTGTGGTGGGGGGGGGGGGGGGGGG | CA2685601938 | KCNH2 | n.3887_3888insCCCCCCCCCCCCCACCACAACCCCC c.3054_3055insCCCCCCCCCCCCCACCACAACCCCC (p.Thr1019ProfsTer?) c.2034_2035insCCCCCCCCCCCCCACCACAACCCCC (p.Thr679ProfsTer?) c.2754_2755insCCCCCCCCCCCCCACCACAACCCCC (p.Thr919ProfsTer?) c.*134_*135insCCCCCCCCCCCCCACCACAACCCCC (n.*134_*135insCCCCCCCCCCCCCACCACAACCCCC) c.2904_2905insCCCCCCCCCCCCCACCACAACCCCC (p.Thr969ProfsTer?) c.2877_2878insCCCCCCCCCCCCCACCACAACCCCC (p.Thr960ProfsTer?) | gnomAD v4 |
7 | g.150947430_150947431insGTTTTTGGGGGGGGGGGGGGGGGGGGG | CA2685601937 | KCNH2 | n.3887_3888insCCCCCCCCCCCCCCCCAAAAACCCCCC c.3054_3055insCCCCCCCCCCCCCCCCAAAAACCCCCC (p.Pro1018_Thr1019insProProProProProGlnLysProPro) c.2034_2035insCCCCCCCCCCCCCCCCAAAAACCCCCC (p.Pro678_Thr679insProProProProProGlnLysProPro) c.2754_2755insCCCCCCCCCCCCCCCCAAAAACCCCCC (p.Pro918_Thr919insProProProProProGlnLysProPro) c.*134_*135insCCCCCCCCCCCCCCCCAAAAACCCCCC (n.*134_*135insCCCCCCCCCCCCCCCCAAAAACCCCCC) c.2904_2905insCCCCCCCCCCCCCCCCAAAAACCCCCC (p.Pro968_Thr969insProProProProProGlnLysProPro) c.2877_2878insCCCCCCCCCCCCCCCCAAAAACCCCCC (p.Pro959_Thr960insProProProProProGlnLysProPro) | gnomAD v4 |
7 | g.150947430_150947431insGGGGGGTTGTGGGGGGGGGGGGGGGGGGGGG | CA2685601936 | KCNH2 | n.3887_3888insCCCCCCCCCCCCCCCCACAACCCCCCCCCCC c.3054_3055insCCCCCCCCCCCCCCCCACAACCCCCCCCCCC (p.Thr1019ProfsTer?) c.2034_2035insCCCCCCCCCCCCCCCCACAACCCCCCCCCCC (p.Thr679ProfsTer?) c.2754_2755insCCCCCCCCCCCCCCCCACAACCCCCCCCCCC (p.Thr919ProfsTer?) c.*134_*135insCCCCCCCCCCCCCCCCACAACCCCCCCCCCC (n.*134_*135insCCCCCCCCCCCCCCCCACAACCCCCCCCCCC) c.2904_2905insCCCCCCCCCCCCCCCCACAACCCCCCCCCCC (p.Thr969ProfsTer?) c.2877_2878insCCCCCCCCCCCCCCCCACAACCCCCCCCCCC (p.Thr960ProfsTer?) | gnomAD v4 |
7 | g.150947430dup | CA2550808594 | KCNH2 | n.3887dup c.3054dup (p.Thr1019HisfsTer?) c.2034dup (p.Thr679HisfsTer?) c.2754dup (p.Thr919HisfsTer?) c.*134dup (n.*134dup) c.2904dup (p.Thr969HisfsTer?) c.2877dup (p.Thr960HisfsTer?) | |
7 | g.150947426_150947430dup | CA2685601944 | KCNH2 | n.3883_3887dup c.3050_3054dup (p.Thr1019ProfsTer?) c.2030_2034dup (p.Thr679ProfsTer?) c.2750_2754dup (p.Thr919ProfsTer?) c.*130_*134dup (n.*130_*134dup) c.2900_2904dup (p.Thr969ProfsTer?) c.2873_2877dup (p.Thr960ProfsTer?) | gnomAD v4 |
7 | g.150947430del | CA658797032 | KCNH2 | n.3887del c.3054del (p.Thr1019ProfsTer?) c.2034del (p.Thr679ProfsTer?) c.2754del (p.Thr919ProfsTer?) c.*134del (n.*134del) c.2904del (p.Thr969ProfsTer?) c.2877del (p.Thr960ProfsTer?) | ClinVar dbSNP gnomAD v4 |
7 | g.150947430_150947435del | CA1752429262 | KCNH2 | n.3882_3887del c.3049_3054del (p.Ala1017_Pro1018del) c.2029_2034del (p.Ala677_Pro678del) c.2749_2754del (p.Ala917_Pro918del) c.*129_*134del (n.*129_*134del) c.2899_2904del (p.Ala967_Pro968del) c.2872_2877del (p.Ala958_Pro959del) | dbSNP gnomAD v4 |
7 | g.150947427G>A | CA169072005 | KCNH2 | n.3886C>T c.3053C>T (p.Pro1018Leu) c.2033C>T (p.Pro678Leu) c.2753C>T (p.Pro918Leu) c.*133C>T (n.*133C>T) c.2903C>T (p.Pro968Leu) c.2876C>T (p.Pro959Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947427G>C | CA369852803 | KCNH2 | n.3886C>G c.3053C>G (p.Pro1018Arg) c.2033C>G (p.Pro678Arg) c.2753C>G (p.Pro918Arg) c.*133C>G (n.*133C>G) c.2903C>G (p.Pro968Arg) c.2876C>G (p.Pro959Arg) | |
7 | g.150947427G= | CA1752429272 | KCNH2 | n.3886C= c.3053C= (p.Pro1018=) c.2033C= (p.Pro678=) c.2753C= (p.Pro918=) c.*133C= (n.*133C=) c.2903C= (p.Pro968=) c.2876C= (p.Pro959=) | |
7 | g.150947427G>T | CA369852801 | KCNH2 | n.3886C>A c.3053C>A (p.Pro1018His) c.2033C>A (p.Pro678His) c.2753C>A (p.Pro918His) c.*133C>A (n.*133C>A) c.2903C>A (p.Pro968His) c.2876C>A (p.Pro959His) | gnomAD v4 |
7 | g.150947428G>A | CA169072026 | KCNH2 | n.3885C>T c.3052C>T (p.Pro1018Ser) c.2032C>T (p.Pro678Ser) c.2752C>T (p.Pro918Ser) c.*132C>T (n.*132C>T) c.2902C>T (p.Pro968Ser) c.2875C>T (p.Pro959Ser) | ClinVar dbSNP |
7 | g.150947428G>C | CA007858 | KCNH2 | n.3885C>G c.3052C>G (p.Pro1018Ala) c.2032C>G (p.Pro678Ala) c.2752C>G (p.Pro918Ala) c.*132C>G (n.*132C>G) c.2902C>G (p.Pro968Ala) c.2875C>G (p.Pro959Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947428G= | CA1752429278 | KCNH2 | n.3885C= c.3052C= (p.Pro1018=) c.2032C= (p.Pro678=) c.2752C= (p.Pro918=) c.*132C= (n.*132C=) c.2902C= (p.Pro968=) c.2875C= (p.Pro959=) | |
7 | g.150947428G>T | CA369852806 | KCNH2 | n.3885C>A c.3052C>A (p.Pro1018Thr) c.2032C>A (p.Pro678Thr) c.2752C>A (p.Pro918Thr) c.*132C>A (n.*132C>A) c.2902C>A (p.Pro968Thr) c.2875C>A (p.Pro959Thr) | gnomAD v4 |
7 | g.150947429G>A | CA169072031 | KCNH2 | n.3884C>T c.3051C>T (p.Ala1017=) c.2031C>T (p.Ala677=) c.2751C>T (p.Ala917=) c.*131C>T (n.*131C>T) c.2901C>T (p.Ala967=) c.2874C>T (p.Ala958=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947429G>C | CA458644889 | KCNH2 | n.3884C>G c.3051C>G (p.Ala1017=) c.2031C>G (p.Ala677=) c.2751C>G (p.Ala917=) c.*131C>G (n.*131C>G) c.2901C>G (p.Ala967=) c.2874C>G (p.Ala958=) | |
7 | g.150947429G= | CA1752429284 | KCNH2 | n.3884C= c.3051C= (p.Ala1017=) c.2031C= (p.Ala677=) c.2751C= (p.Ala917=) c.*131C= (n.*131C=) c.2901C= (p.Ala967=) c.2874C= (p.Ala958=) | |
7 | g.150947429G>T | CA169072038 | KCNH2 | n.3884C>A c.3051C>A (p.Ala1017=) c.2031C>A (p.Ala677=) c.2751C>A (p.Ala917=) c.*131C>A (n.*131C>A) c.2901C>A (p.Ala967=) c.2874C>A (p.Ala958=) | ClinVar dbSNP gnomAD v4 |
7 | g.150947430G>A | CA369852808 | KCNH2 | n.3883C>T c.3050C>T (p.Ala1017Val) c.2030C>T (p.Ala677Val) c.2750C>T (p.Ala917Val) c.*130C>T (n.*130C>T) c.2900C>T (p.Ala967Val) c.2873C>T (p.Ala958Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947430G>C | CA369852810 | KCNH2 | n.3883C>G c.3050C>G (p.Ala1017Gly) c.2030C>G (p.Ala677Gly) c.2750C>G (p.Ala917Gly) c.*130C>G (n.*130C>G) c.2900C>G (p.Ala967Gly) c.2873C>G (p.Ala958Gly) | |
7 | g.150947430G= | CA1752429297 | KCNH2 | n.3883C= c.3050C= (p.Ala1017=) c.2030C= (p.Ala677=) c.2750C= (p.Ala917=) c.*130C= (n.*130C=) c.2900C= (p.Ala967=) c.2873C= (p.Ala958=) | |
7 | g.150947430G>T | CA369852812 | KCNH2 | n.3883C>A c.3050C>A (p.Ala1017Asp) c.2030C>A (p.Ala677Asp) c.2750C>A (p.Ala917Asp) c.*130C>A (n.*130C>A) c.2900C>A (p.Ala967Asp) c.2873C>A (p.Ala958Asp) | gnomAD v4 |
7 | g.150947431C>A | CA169072043 | KCNH2 | n.3882G>T c.3049G>T (p.Ala1017Ser) c.2029G>T (p.Ala677Ser) c.2749G>T (p.Ala917Ser) c.*129G>T (n.*129G>T) c.2899G>T (p.Ala967Ser) c.2872G>T (p.Ala958Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947431C= | CA1752429301 | KCNH2 | n.3882G= c.3049G= (p.Ala1017=) c.2029G= (p.Ala677=) c.2749G= (p.Ala917=) c.*129G= (n.*129G=) c.2899G= (p.Ala967=) c.2872G= (p.Ala958=) | |
7 | g.150947431C>G | CA369852814 | KCNH2 | n.3882G>C c.3049G>C (p.Ala1017Pro) c.2029G>C (p.Ala677Pro) c.2749G>C (p.Ala917Pro) c.*129G>C (n.*129G>C) c.2899G>C (p.Ala967Pro) c.2872G>C (p.Ala958Pro) | dbSNP gnomAD v4 |
7 | g.150947431C>T | CA369852815 | KCNH2 | n.3882G>A c.3049G>A (p.Ala1017Thr) c.2029G>A (p.Ala677Thr) c.2749G>A (p.Ala917Thr) c.*129G>A (n.*129G>A) c.2899G>A (p.Ala967Thr) c.2872G>A (p.Ala958Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947431_150947441del | CA2695208794 | KCNH2 | n.3872_3882del c.3039_3049del (p.Arg1014ProfsTer?) c.2019_2029del (p.Arg674ProfsTer?) c.2739_2749del (p.Arg914ProfsTer?) c.*119_*129del (n.*119_*129del) c.2889_2899del (p.Arg964ProfsTer?) c.2862_2872del (p.Arg955ProfsTer?) | |
7 | g.150947432G>A | CA036382 | KCNH2 | n.3881C>T c.3048C>T (p.Pro1016=) c.2028C>T (p.Pro676=) c.2748C>T (p.Pro916=) c.*128C>T (n.*128C>T) c.2898C>T (p.Pro966=) c.2871C>T (p.Pro957=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947432G>C | CA458644891 | KCNH2 | n.3881C>G c.3048C>G (p.Pro1016=) c.2028C>G (p.Pro676=) c.2748C>G (p.Pro916=) c.*128C>G (n.*128C>G) c.2898C>G (p.Pro966=) c.2871C>G (p.Pro957=) | gnomAD v4 |
7 | g.150947432G= | CA1752429308 | KCNH2 | n.3881C= c.3048C= (p.Pro1016=) c.2028C= (p.Pro676=) c.2748C= (p.Pro916=) c.*128C= (n.*128C=) c.2898C= (p.Pro966=) c.2871C= (p.Pro957=) | |
7 | g.150947432G>T | CA458644892 | KCNH2 | n.3881C>A c.3048C>A (p.Pro1016=) c.2028C>A (p.Pro676=) c.2748C>A (p.Pro916=) c.*128C>A (n.*128C>A) c.2898C>A (p.Pro966=) c.2871C>A (p.Pro957=) | gnomAD v4 |
7 | g.150947433_150947434insTGGGGGGGGGGGGGGGGGG | CA2685601949 | KCNH2 | n.3881_3882insCCCCCCCCCCCCCCCCACC c.3048_3049insCCCCCCCCCCCCCCCCACC (p.Ala1017ProfsTer?) c.2028_2029insCCCCCCCCCCCCCCCCACC (p.Ala677ProfsTer?) c.2748_2749insCCCCCCCCCCCCCCCCACC (p.Ala917ProfsTer?) c.*128_*129insCCCCCCCCCCCCCCCCACC (n.*128_*129insCCCCCCCCCCCCCCCCACC) c.2898_2899insCCCCCCCCCCCCCCCCACC (p.Ala967ProfsTer?) c.2871_2872insCCCCCCCCCCCCCCCCACC (p.Ala958ProfsTer?) | gnomAD v4 |
7 | g.150947435_150947436insGGGGGGGGGGGGG | CA913188233 | KCNH2 | n.3881_3882insCCCCCCCCCCCCC c.3048_3049insCCCCCCCCCCCCC (p.Ala1017ProfsTer?) c.2028_2029insCCCCCCCCCCCCC (p.Ala677ProfsTer?) c.2748_2749insCCCCCCCCCCCCC (p.Ala917ProfsTer?) c.*128_*129insCCCCCCCCCCCCC (n.*128_*129insCCCCCCCCCCCCC) c.2898_2899insCCCCCCCCCCCCC (p.Ala967ProfsTer?) c.2871_2872insCCCCCCCCCCCCC (p.Ala958ProfsTer?) | ClinVar gnomAD v4 |
7 | g.150947435_150947436insGGGGGGGGGGGGGGGG | CA2685601950 | KCNH2 | n.3881_3882insCCCCCCCCCCCCCCCC c.3048_3049insCCCCCCCCCCCCCCCC (p.Ala1017ProfsTer?) c.2028_2029insCCCCCCCCCCCCCCCC (p.Ala677ProfsTer?) c.2748_2749insCCCCCCCCCCCCCCCC (p.Ala917ProfsTer?) c.*128_*129insCCCCCCCCCCCCCCCC (n.*128_*129insCCCCCCCCCCCCCCCC) c.2898_2899insCCCCCCCCCCCCCCCC (p.Ala967ProfsTer?) c.2871_2872insCCCCCCCCCCCCCCCC (p.Ala958ProfsTer?) | gnomAD v4 |
7 | g.150947432_150947444del | CA2695208795 | KCNH2 | n.3869_3881del c.3036_3048del (p.Arg1014ProfsTer?) c.2016_2028del (p.Arg674ProfsTer?) c.2736_2748del (p.Arg914ProfsTer?) c.*116_*128del (n.*116_*128del) c.2886_2898del (p.Arg964ProfsTer?) c.2859_2871del (p.Arg955ProfsTer?) | |
7 | g.150947433G>A | CA169072044 | KCNH2 | n.3880C>T c.3047C>T (p.Pro1016Leu) c.2027C>T (p.Pro676Leu) c.2747C>T (p.Pro916Leu) c.*127C>T (n.*127C>T) c.2897C>T (p.Pro966Leu) c.2870C>T (p.Pro957Leu) | dbSNP gnomAD v4 |
7 | g.150947433G>C | CA369852820 | KCNH2 | n.3880C>G c.3047C>G (p.Pro1016Arg) c.2027C>G (p.Pro676Arg) c.2747C>G (p.Pro916Arg) c.*127C>G (n.*127C>G) c.2897C>G (p.Pro966Arg) c.2870C>G (p.Pro957Arg) | |
7 | g.150947433G= | CA1752429312 | KCNH2 | n.3880C= c.3047C= (p.Pro1016=) c.2027C= (p.Pro676=) c.2747C= (p.Pro916=) c.*127C= (n.*127C=) c.2897C= (p.Pro966=) c.2870C= (p.Pro957=) | |
7 | g.150947433G>T | CA369852818 | KCNH2 | n.3880C>A c.3047C>A (p.Pro1016His) c.2027C>A (p.Pro676His) c.2747C>A (p.Pro916His) c.*127C>A (n.*127C>A) c.2897C>A (p.Pro966His) c.2870C>A (p.Pro957His) | gnomAD v4 |
7 | g.150947434G>A | CA169072048 | KCNH2 | n.3879C>T c.3046C>T (p.Pro1016Ser) c.2026C>T (p.Pro676Ser) c.2746C>T (p.Pro916Ser) c.*126C>T (n.*126C>T) c.2896C>T (p.Pro966Ser) c.2869C>T (p.Pro957Ser) | dbSNP |
7 | g.150947434G>C | CA369852821 | KCNH2 | n.3879C>G c.3046C>G (p.Pro1016Ala) c.2026C>G (p.Pro676Ala) c.2746C>G (p.Pro916Ala) c.*126C>G (n.*126C>G) c.2896C>G (p.Pro966Ala) c.2869C>G (p.Pro957Ala) | |
7 | g.150947434G= | CA1752429316 | KCNH2 | n.3879C= c.3046C= (p.Pro1016=) c.2026C= (p.Pro676=) c.2746C= (p.Pro916=) c.*126C= (n.*126C=) c.2896C= (p.Pro966=) c.2869C= (p.Pro957=) | |
7 | g.150947434G>T | CA369852823 | KCNH2 | n.3879C>A c.3046C>A (p.Pro1016Thr) c.2026C>A (p.Pro676Thr) c.2746C>A (p.Pro916Thr) c.*126C>A (n.*126C>A) c.2896C>A (p.Pro966Thr) c.2869C>A (p.Pro957Thr) | gnomAD v4 |
7 | g.150947435G>A | CA458644897 | KCNH2 | n.3878C>T c.3045C>T (p.Cys1015=) c.2025C>T (p.Cys675=) c.2745C>T (p.Cys915=) c.*125C>T (n.*125C>T) c.2895C>T (p.Cys965=) c.2868C>T (p.Cys956=) | ClinVar dbSNP gnomAD v4 |
7 | g.150947435G>C | CA369852825 | KCNH2 | n.3878C>G c.3045C>G (p.Cys1015Trp) c.2025C>G (p.Cys675Trp) c.2745C>G (p.Cys915Trp) c.*125C>G (n.*125C>G) c.2895C>G (p.Cys965Trp) c.2868C>G (p.Cys956Trp) | |
7 | g.150947435G= | CA1752429319 | KCNH2 | n.3878C= c.3045C= (p.Cys1015=) c.2025C= (p.Cys675=) c.2745C= (p.Cys915=) c.*125C= (n.*125C=) c.2895C= (p.Cys965=) c.2868C= (p.Cys956=) | |
7 | g.150947435G>T | CA369852827 | KCNH2 | n.3878C>A c.3045C>A (p.Cys1015Ter) c.2025C>A (p.Cys675Ter) c.2745C>A (p.Cys915Ter) c.*125C>A (n.*125C>A) c.2895C>A (p.Cys965Ter) c.2868C>A (p.Cys956Ter) | gnomAD v4 |
7 | g.150947436C>A | CA369852828 | KCNH2 | n.3877G>T c.3044G>T (p.Cys1015Phe) c.2024G>T (p.Cys675Phe) c.2744G>T (p.Cys915Phe) c.*124G>T (n.*124G>T) c.2894G>T (p.Cys965Phe) c.2867G>T (p.Cys956Phe) | gnomAD v4 |
7 | g.150947436C= | CA1752429321 | KCNH2 | n.3877G= c.3044G= (p.Cys1015=) c.2024G= (p.Cys675=) c.2744G= (p.Cys915=) c.*124G= (n.*124G=) c.2894G= (p.Cys965=) c.2867G= (p.Cys956=) | |
7 | g.150947436C>G | CA369852830 | KCNH2 | n.3877G>C c.3044G>C (p.Cys1015Ser) c.2024G>C (p.Cys675Ser) c.2744G>C (p.Cys915Ser) c.*124G>C (n.*124G>C) c.2894G>C (p.Cys965Ser) c.2867G>C (p.Cys956Ser) | |
7 | g.150947436C>T | CA369852832 | KCNH2 | n.3877G>A c.3044G>A (p.Cys1015Tyr) c.2024G>A (p.Cys675Tyr) c.2744G>A (p.Cys915Tyr) c.*124G>A (n.*124G>A) c.2894G>A (p.Cys965Tyr) c.2867G>A (p.Cys956Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947437A= | CA1752429324 | KCNH2 | n.3876T= c.3043T= (p.Cys1015=) c.2023T= (p.Cys675=) c.2743T= (p.Cys915=) c.*123T= (n.*123T=) c.2893T= (p.Cys965=) c.2866T= (p.Cys956=) | |
7 | g.150947437A>C | CA369852834 | KCNH2 | n.3876T>G c.3043T>G (p.Cys1015Gly) c.2023T>G (p.Cys675Gly) c.2743T>G (p.Cys915Gly) c.*123T>G (n.*123T>G) c.2893T>G (p.Cys965Gly) c.2866T>G (p.Cys956Gly) | |
7 | g.150947437A>G | CA369852835 | KCNH2 | n.3876T>C c.3043T>C (p.Cys1015Arg) c.2023T>C (p.Cys675Arg) c.2743T>C (p.Cys915Arg) c.*123T>C (n.*123T>C) c.2893T>C (p.Cys965Arg) c.2866T>C (p.Cys956Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.150947437A>T | CA369852836 | KCNH2 | n.3876T>A c.3043T>A (p.Cys1015Ser) c.2023T>A (p.Cys675Ser) c.2743T>A (p.Cys915Ser) c.*123T>A (n.*123T>A) c.2893T>A (p.Cys965Ser) c.2866T>A (p.Cys956Ser) | |
7 | g.150947438T>A | CA458644899 | KCNH2 | n.3875A>T c.3042A>T (p.Arg1014=) c.2022A>T (p.Arg674=) c.2742A>T (p.Arg914=) c.*122A>T (n.*122A>T) c.2892A>T (p.Arg964=) c.2865A>T (p.Arg955=) | gnomAD v4 |
7 | g.150947438T>C | CA458644901 | KCNH2 | n.3875A>G c.3042A>G (p.Arg1014=) c.2022A>G (p.Arg674=) c.2742A>G (p.Arg914=) c.*122A>G (n.*122A>G) c.2892A>G (p.Arg964=) c.2865A>G (p.Arg955=) | |
7 | g.150947438T>G | CA458644903 | KCNH2 | n.3875A>C c.3042A>C (p.Arg1014=) c.2022A>C (p.Arg674=) c.2742A>C (p.Arg914=) c.*122A>C (n.*122A>C) c.2892A>C (p.Arg964=) c.2865A>C (p.Arg955=) | |
7 | g.150947439C>A | CA369852839 | KCNH2 | n.3874G>T c.3041G>T (p.Arg1014Leu) c.2021G>T (p.Arg674Leu) c.2741G>T (p.Arg914Leu) c.*121G>T (n.*121G>T) c.2891G>T (p.Arg964Leu) c.2864G>T (p.Arg955Leu) | gnomAD v4 |
7 | g.150947439C= | CA1752429326 | KCNH2 | n.3874G= c.3041G= (p.Arg1014=) c.2021G= (p.Arg674=) c.2741G= (p.Arg914=) c.*121G= (n.*121G=) c.2891G= (p.Arg964=) c.2864G= (p.Arg955=) | |
7 | g.150947439C>G | CA369852841 | KCNH2 | n.3874G>C c.3041G>C (p.Arg1014Pro) c.2021G>C (p.Arg674Pro) c.2741G>C (p.Arg914Pro) c.*121G>C (n.*121G>C) c.2891G>C (p.Arg964Pro) c.2864G>C (p.Arg955Pro) | |
7 | g.150947439C>T | CA169072052 | KCNH2 | n.3874G>A c.3041G>A (p.Arg1014Gln) c.2021G>A (p.Arg674Gln) c.2741G>A (p.Arg914Gln) c.*121G>A (n.*121G>A) c.2891G>A (p.Arg964Gln) c.2864G>A (p.Arg955Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150947440G>A | CA007849 | KCNH2 | n.3873C>T c.3040C>T (p.Arg1014Ter) c.2020C>T (p.Arg674Ter) c.2740C>T (p.Arg914Ter) c.*120C>T (n.*120C>T) c.2890C>T (p.Arg964Ter) c.2863C>T (p.Arg955Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947440G>C | CA369852843 | KCNH2 | n.3873C>G c.3040C>G (p.Arg1014Gly) c.2020C>G (p.Arg674Gly) c.2740C>G (p.Arg914Gly) c.*120C>G (n.*120C>G) c.2890C>G (p.Arg964Gly) c.2863C>G (p.Arg955Gly) | |
7 | g.150947440G= | CA1752429329 | KCNH2 | n.3873C= c.3040C= (p.Arg1014=) c.2020C= (p.Arg674=) c.2740C= (p.Arg914=) c.*120C= (n.*120C=) c.2890C= (p.Arg964=) c.2863C= (p.Arg955=) | |
7 | g.150947440G>T | CA458644904 | KCNH2 | n.3873C>A c.3040C>A (p.Arg1014=) c.2020C>A (p.Arg674=) c.2740C>A (p.Arg914=) c.*120C>A (n.*120C>A) c.2890C>A (p.Arg964=) c.2863C>A (p.Arg955=) | |
7 | g.150947441del | CA2573141848 | KCNH2 | n.3872del c.3039del (p.Arg1014AspfsTer?) c.2019del (p.Arg674AspfsTer?) c.2739del (p.Arg914AspfsTer?) c.*119del (n.*119del) c.2889del (p.Arg964AspfsTer?) c.2862del (p.Arg955AspfsTer?) | ClinVar dbSNP |
7 | g.150947441A= | CA1752429330 | KCNH2 | n.3872T= c.3039T= (p.Pro1013=) c.2019T= (p.Pro673=) c.2739T= (p.Pro913=) c.*119T= (n.*119T=) c.2889T= (p.Pro963=) c.2862T= (p.Pro954=) | |
7 | g.150947441A>C | CA458644905 | KCNH2 | n.3872T>G c.3039T>G (p.Pro1013=) c.2019T>G (p.Pro673=) c.2739T>G (p.Pro913=) c.*119T>G (n.*119T>G) c.2889T>G (p.Pro963=) c.2862T>G (p.Pro954=) | |
7 | g.150947441A>G | CA458644906 | KCNH2 | n.3872T>C c.3039T>C (p.Pro1013=) c.2019T>C (p.Pro673=) c.2739T>C (p.Pro913=) c.*119T>C (n.*119T>C) c.2889T>C (p.Pro963=) c.2862T>C (p.Pro954=) | ClinVar dbSNP gnomAD v4 |
7 | g.150947441A>T | CA458644907 | KCNH2 | n.3872T>A c.3039T>A (p.Pro1013=) c.2019T>A (p.Pro673=) c.2739T>A (p.Pro913=) c.*119T>A (n.*119T>A) c.2889T>A (p.Pro963=) c.2862T>A (p.Pro954=) | |
7 | g.150947442G>A | CA369852845 | KCNH2 | n.3871C>T c.3038C>T (p.Pro1013Leu) c.2018C>T (p.Pro673Leu) c.2738C>T (p.Pro913Leu) c.*118C>T (n.*118C>T) c.2888C>T (p.Pro963Leu) c.2861C>T (p.Pro954Leu) | gnomAD v4 |
7 | g.150947442G>C | CA369852847 | KCNH2 | n.3871C>G c.3038C>G (p.Pro1013Arg) c.2018C>G (p.Pro673Arg) c.2738C>G (p.Pro913Arg) c.*118C>G (n.*118C>G) c.2888C>G (p.Pro963Arg) c.2861C>G (p.Pro954Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.150947442G>T | CA369852848 | KCNH2 | n.3871C>A c.3038C>A (p.Pro1013His) c.2018C>A (p.Pro673His) c.2738C>A (p.Pro913His) c.*118C>A (n.*118C>A) c.2888C>A (p.Pro963His) c.2861C>A (p.Pro954His) | gnomAD v4 |
7 | g.150947444del | CA2579062775 | KCNH2 | n.3871del c.3038del (p.Pro1013LeufsTer?) c.2018del (p.Pro673LeufsTer?) c.2738del (p.Pro913LeufsTer?) c.*118del (n.*118del) c.2888del (p.Pro963LeufsTer?) c.2861del (p.Pro954LeufsTer?) | |
7 | g.150947443G>A | CA369852850 | KCNH2 | n.3870C>T c.3037C>T (p.Pro1013Ser) c.2017C>T (p.Pro673Ser) c.2737C>T (p.Pro913Ser) c.*117C>T (n.*117C>T) c.2887C>T (p.Pro963Ser) c.2860C>T (p.Pro954Ser) | gnomAD v4 |
7 | g.150947443G>C | CA369852852 | KCNH2 | n.3870C>G c.3037C>G (p.Pro1013Ala) c.2017C>G (p.Pro673Ala) c.2737C>G (p.Pro913Ala) c.*117C>G (n.*117C>G) c.2887C>G (p.Pro963Ala) c.2860C>G (p.Pro954Ala) | gnomAD v4 |
7 | g.150947443G>T | CA369852853 | KCNH2 | n.3870C>A c.3037C>A (p.Pro1013Thr) c.2017C>A (p.Pro673Thr) c.2737C>A (p.Pro913Thr) c.*117C>A (n.*117C>A) c.2887C>A (p.Pro963Thr) c.2860C>A (p.Pro954Thr) | gnomAD v4 |
7 | g.150947444G>A | CA458644911 | KCNH2 | n.3869C>T c.3036C>T (p.Leu1012=) c.2016C>T (p.Leu672=) c.2736C>T (p.Leu912=) c.*116C>T (n.*116C>T) c.2886C>T (p.Leu962=) c.2859C>T (p.Leu953=) | gnomAD v4 |
7 | g.150947444G>C | CA458644912 | KCNH2 | n.3869C>G c.3036C>G (p.Leu1012=) c.2016C>G (p.Leu672=) c.2736C>G (p.Leu912=) c.*116C>G (n.*116C>G) c.2886C>G (p.Leu962=) c.2859C>G (p.Leu953=) | gnomAD v4 |
7 | g.150947444G>T | CA458644913 | KCNH2 | n.3869C>A c.3036C>A (p.Leu1012=) c.2016C>A (p.Leu672=) c.2736C>A (p.Leu912=) c.*116C>A (n.*116C>A) c.2886C>A (p.Leu962=) c.2859C>A (p.Leu953=) | gnomAD v4 |
7 | g.150947445A>C | CA369852856 | KCNH2 | n.3868T>G c.3035T>G (p.Leu1012Arg) c.2015T>G (p.Leu672Arg) c.2735T>G (p.Leu912Arg) c.*115T>G (n.*115T>G) c.2885T>G (p.Leu962Arg) c.2858T>G (p.Leu953Arg) | |
7 | g.150947445A>G | CA369852857 | KCNH2 | n.3868T>C c.3035T>C (p.Leu1012Pro) c.2015T>C (p.Leu672Pro) c.2735T>C (p.Leu912Pro) c.*115T>C (n.*115T>C) c.2885T>C (p.Leu962Pro) c.2858T>C (p.Leu953Pro) | |
7 | g.150947445A>T | CA369852858 | KCNH2 | n.3868T>A c.3035T>A (p.Leu1012His) c.2015T>A (p.Leu672His) c.2735T>A (p.Leu912His) c.*115T>A (n.*115T>A) c.2885T>A (p.Leu962His) c.2858T>A (p.Leu953His) | |
7 | g.150947446G>A | CA369852860 | KCNH2 | n.3867C>T c.3034C>T (p.Leu1012Phe) c.2014C>T (p.Leu672Phe) c.2734C>T (p.Leu912Phe) c.*114C>T (n.*114C>T) c.2884C>T (p.Leu962Phe) c.2857C>T (p.Leu953Phe) | |
7 | g.150947446G>C | CA369852862 | KCNH2 | n.3867C>G c.3034C>G (p.Leu1012Val) c.2014C>G (p.Leu672Val) c.2734C>G (p.Leu912Val) c.*114C>G (n.*114C>G) c.2884C>G (p.Leu962Val) c.2857C>G (p.Leu953Val) | COSMIC COSMIC |
7 | g.150947446G>T | CA369852864 | KCNH2 | n.3867C>A c.3034C>A (p.Leu1012Ile) c.2014C>A (p.Leu672Ile) c.2734C>A (p.Leu912Ile) c.*114C>A (n.*114C>A) c.2884C>A (p.Leu962Ile) c.2857C>A (p.Leu953Ile) | gnomAD v4 |
7 | g.150947447C>A | CA369852865 | KCNH2 | n.3866G>T c.3033G>T (p.Glu1011Asp) c.2013G>T (p.Glu671Asp) c.2733G>T (p.Glu911Asp) c.*113G>T (n.*113G>T) c.2883G>T (p.Glu961Asp) c.2856G>T (p.Glu952Asp) | gnomAD v4 |
7 | g.150947447C>G | CA369852866 | KCNH2 | n.3866G>C c.3033G>C (p.Glu1011Asp) c.2013G>C (p.Glu671Asp) c.2733G>C (p.Glu911Asp) c.*113G>C (n.*113G>C) c.2883G>C (p.Glu961Asp) c.2856G>C (p.Glu952Asp) | |
7 | g.150947447C>T | CA458644915 | KCNH2 | n.3866G>A c.3033G>A (p.Glu1011=) c.2013G>A (p.Glu671=) c.2733G>A (p.Glu911=) c.*113G>A (n.*113G>A) c.2883G>A (p.Glu961=) c.2856G>A (p.Glu952=) | |
7 | g.150947448_150947449del | CA2695208796 | KCNH2 | n.3865_3866del c.3032_3033del (p.Glu1011AlafsTer?) c.2012_2013del (p.Glu671AlafsTer?) c.2732_2733del (p.Glu911AlafsTer?) c.*112_*113del (n.*112_*113del) c.2882_2883del (p.Glu961AlafsTer?) c.2855_2856del (p.Glu952AlafsTer?) | |
7 | g.150947448del | CA2499218785 | KCNH2 | n.3865del c.3032del (p.Glu1011GlyfsTer?) c.2012del (p.Glu671GlyfsTer?) c.2732del (p.Glu911GlyfsTer?) c.*112del (n.*112del) c.2882del (p.Glu961GlyfsTer?) c.2855del (p.Glu952GlyfsTer?) | ClinVar dbSNP |
7 | g.150947448T>A | CA369852870 | KCNH2 | n.3865A>T c.3032A>T (p.Glu1011Val) c.2012A>T (p.Glu671Val) c.2732A>T (p.Glu911Val) c.*112A>T (n.*112A>T) c.2882A>T (p.Glu961Val) c.2855A>T (p.Glu952Val) | gnomAD v4 |
7 | g.150947448T>C | CA369852872 | KCNH2 | n.3865A>G c.3032A>G (p.Glu1011Gly) c.2012A>G (p.Glu671Gly) c.2732A>G (p.Glu911Gly) c.*112A>G (n.*112A>G) c.2882A>G (p.Glu961Gly) c.2855A>G (p.Glu952Gly) | ClinVar dbSNP gnomAD v4 |
7 | g.150947448T>G | CA369852869 | KCNH2 | n.3865A>C c.3032A>C (p.Glu1011Ala) c.2012A>C (p.Glu671Ala) c.2732A>C (p.Glu911Ala) c.*112A>C (n.*112A>C) c.2882A>C (p.Glu961Ala) c.2855A>C (p.Glu952Ala) | |
7 | g.150947448T= | CA1752429332 | KCNH2 | n.3865A= c.3032A= (p.Glu1011=) c.2012A= (p.Glu671=) c.2732A= (p.Glu911=) c.*112A= (n.*112A=) c.2882A= (p.Glu961=) c.2855A= (p.Glu952=) | |
7 | g.150947449C>A | CA369852876 | KCNH2 | n.3864G>T c.3031G>T (p.Glu1011Ter) c.2011G>T (p.Glu671Ter) c.2731G>T (p.Glu911Ter) c.*111G>T (n.*111G>T) c.2881G>T (p.Glu961Ter) c.2854G>T (p.Glu952Ter) | |
7 | g.150947449C= | CA1752429333 | KCNH2 | n.3864G= c.3031G= (p.Glu1011=) c.2011G= (p.Glu671=) c.2731G= (p.Glu911=) c.*111G= (n.*111G=) c.2881G= (p.Glu961=) c.2854G= (p.Glu952=) | |
7 | g.150947449C>G | CA369852878 | KCNH2 | n.3864G>C c.3031G>C (p.Glu1011Gln) c.2011G>C (p.Glu671Gln) c.2731G>C (p.Glu911Gln) c.*111G>C (n.*111G>C) c.2881G>C (p.Glu961Gln) c.2854G>C (p.Glu952Gln) | gnomAD v4 |
7 | g.150947449C>T | CA369852874 | KCNH2 | n.3864G>A c.3031G>A (p.Glu1011Lys) c.2011G>A (p.Glu671Lys) c.2731G>A (p.Glu911Lys) c.*111G>A (n.*111G>A) c.2881G>A (p.Glu961Lys) c.2854G>A (p.Glu952Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947450dup | CA169072055 | KCNH2 | n.3864dup c.3031dup (p.Glu1011GlyfsTer?) c.2011dup (p.Glu671GlyfsTer?) c.2731dup (p.Glu911GlyfsTer?) c.*111dup (n.*111dup) c.2881dup (p.Glu961GlyfsTer?) c.2854dup (p.Glu952GlyfsTer?) | dbSNP |
7 | g.150947450C>A | CA369852880 | KCNH2 | n.3863G>T c.3030G>T (p.Gln1010His) c.2010G>T (p.Gln670His) c.2730G>T (p.Gln910His) c.*110G>T (n.*110G>T) c.2880G>T (p.Gln960His) c.2853G>T (p.Gln951His) | gnomAD v4 |
7 | g.150947450C>G | CA369852879 | KCNH2 | n.3863G>C c.3030G>C (p.Gln1010His) c.2010G>C (p.Gln670His) c.2730G>C (p.Gln910His) c.*110G>C (n.*110G>C) c.2880G>C (p.Gln960His) c.2853G>C (p.Gln951His) | |
7 | g.150947450C>T | CA458644918 | KCNH2 | n.3863G>A c.3030G>A (p.Gln1010=) c.2010G>A (p.Gln670=) c.2730G>A (p.Gln910=) c.*110G>A (n.*110G>A) c.2880G>A (p.Gln960=) c.2853G>A (p.Gln951=) | |
7 | g.150947451T>A | CA369852884 | KCNH2 | n.3862A>T c.3029A>T (p.Gln1010Leu) c.2009A>T (p.Gln670Leu) c.2729A>T (p.Gln910Leu) c.*109A>T (n.*109A>T) c.2879A>T (p.Gln960Leu) c.2852A>T (p.Gln951Leu) | |
7 | g.150947451T>C | CA369852883 | KCNH2 | n.3862A>G c.3029A>G (p.Gln1010Arg) c.2009A>G (p.Gln670Arg) c.2729A>G (p.Gln910Arg) c.*109A>G (n.*109A>G) c.2879A>G (p.Gln960Arg) c.2852A>G (p.Gln951Arg) | gnomAD v4 |
7 | g.150947451T>G | CA369852885 | KCNH2 | n.3862A>C c.3029A>C (p.Gln1010Pro) c.2009A>C (p.Gln670Pro) c.2729A>C (p.Gln910Pro) c.*109A>C (n.*109A>C) c.2879A>C (p.Gln960Pro) c.2852A>C (p.Gln951Pro) | |
7 | g.150947452G>A | CA369852887 | KCNH2 | n.3861C>T c.3028C>T (p.Gln1010Ter) c.2008C>T (p.Gln670Ter) c.2728C>T (p.Gln910Ter) c.*108C>T (n.*108C>T) c.2878C>T (p.Gln960Ter) c.2851C>T (p.Gln951Ter) | |
7 | g.150947452G>C | CA369852889 | KCNH2 | n.3861C>G c.3028C>G (p.Gln1010Glu) c.2008C>G (p.Gln670Glu) c.2728C>G (p.Gln910Glu) c.*108C>G (n.*108C>G) c.2878C>G (p.Gln960Glu) c.2851C>G (p.Gln951Glu) | gnomAD v4 |
7 | g.150947452G>T | CA369852890 | KCNH2 | n.3861C>A c.3028C>A (p.Gln1010Lys) c.2008C>A (p.Gln670Lys) c.2728C>A (p.Gln910Lys) c.*108C>A (n.*108C>A) c.2878C>A (p.Gln960Lys) c.2851C>A (p.Gln951Lys) | gnomAD v4 |
7 | g.150947453G>A | CA458644920 | KCNH2 | n.3860C>T c.3027C>T (p.Tyr1009=) c.2007C>T (p.Tyr669=) c.2727C>T (p.Tyr909=) c.*107C>T (n.*107C>T) c.2877C>T (p.Tyr959=) c.2850C>T (p.Tyr950=) | |
7 | g.150947453G>C | CA16605072 | KCNH2 | n.3860C>G c.3027C>G (p.Tyr1009Ter) c.2007C>G (p.Tyr669Ter) c.2727C>G (p.Tyr909Ter) c.*107C>G (n.*107C>G) c.2877C>G (p.Tyr959Ter) c.2850C>G (p.Tyr950Ter) | ClinVar dbSNP |
7 | g.150947453G= | CA1752429336 | KCNH2 | n.3860C= c.3027C= (p.Tyr1009=) c.2007C= (p.Tyr669=) c.2727C= (p.Tyr909=) c.*107C= (n.*107C=) c.2877C= (p.Tyr959=) c.2850C= (p.Tyr950=) | |
7 | g.150947453G>T | CA369852892 | KCNH2 | n.3860C>A c.3027C>A (p.Tyr1009Ter) c.2007C>A (p.Tyr669Ter) c.2727C>A (p.Tyr909Ter) c.*107C>A (n.*107C>A) c.2877C>A (p.Tyr959Ter) c.2850C>A (p.Tyr950Ter) | gnomAD v4 |
7 | g.150947454T>A | CA369852894 | KCNH2 | n.3859A>T c.3026A>T (p.Tyr1009Phe) c.2006A>T (p.Tyr669Phe) c.2726A>T (p.Tyr909Phe) c.*106A>T (n.*106A>T) c.2876A>T (p.Tyr959Phe) c.2849A>T (p.Tyr950Phe) | |
7 | g.150947454T>C | CA369852896 | KCNH2 | n.3859A>G c.3026A>G (p.Tyr1009Cys) c.2006A>G (p.Tyr669Cys) c.2726A>G (p.Tyr909Cys) c.*106A>G (n.*106A>G) c.2876A>G (p.Tyr959Cys) c.2849A>G (p.Tyr950Cys) | ClinVar dbSNP gnomAD v4 |
7 | g.150947454T>G | CA369852898 | KCNH2 | n.3859A>C c.3026A>C (p.Tyr1009Ser) c.2006A>C (p.Tyr669Ser) c.2726A>C (p.Tyr909Ser) c.*106A>C (n.*106A>C) c.2876A>C (p.Tyr959Ser) c.2849A>C (p.Tyr950Ser) | |
7 | g.150947455A>C | CA369852899 | KCNH2 | n.3858T>G c.3025T>G (p.Tyr1009Asp) c.2005T>G (p.Tyr669Asp) c.2725T>G (p.Tyr909Asp) c.*105T>G (n.*105T>G) c.2875T>G (p.Tyr959Asp) c.2848T>G (p.Tyr950Asp) | |
7 | g.150947455A>G | CA369852900 | KCNH2 | n.3858T>C c.3025T>C (p.Tyr1009His) c.2005T>C (p.Tyr669His) c.2725T>C (p.Tyr909His) c.*105T>C (n.*105T>C) c.2875T>C (p.Tyr959His) c.2848T>C (p.Tyr950His) | gnomAD v4 |
7 | g.150947455A>T | CA369852901 | KCNH2 | n.3858T>A c.3025T>A (p.Tyr1009Asn) c.2005T>A (p.Tyr669Asn) c.2725T>A (p.Tyr909Asn) c.*105T>A (n.*105T>A) c.2875T>A (p.Tyr959Asn) c.2848T>A (p.Tyr950Asn) | gnomAD v4 |
7 | g.150947456C>A | CA369852902 | KCNH2 | n.3857G>T c.3024G>T (p.Gln1008His) c.2004G>T (p.Gln668His) c.2724G>T (p.Gln908His) c.*104G>T (n.*104G>T) c.2874G>T (p.Gln958His) c.2847G>T (p.Gln949His) | |
7 | g.150947456C= | CA1752429339 | KCNH2 | n.3857G= c.3024G= (p.Gln1008=) c.2004G= (p.Gln668=) c.2724G= (p.Gln908=) c.*104G= (n.*104G=) c.2874G= (p.Gln958=) c.2847G= (p.Gln949=) | |
7 | g.150947456C>G | CA369852903 | KCNH2 | n.3857G>C c.3024G>C (p.Gln1008His) c.2004G>C (p.Gln668His) c.2724G>C (p.Gln908His) c.*104G>C (n.*104G>C) c.2874G>C (p.Gln958His) c.2847G>C (p.Gln949His) | |
7 | g.150947456C>T | CA458644923 | KCNH2 | n.3857G>A c.3024G>A (p.Gln1008=) c.2004G>A (p.Gln668=) c.2724G>A (p.Gln908=) c.*104G>A (n.*104G>A) c.2874G>A (p.Gln958=) c.2847G>A (p.Gln949=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.150947457T>A | CA369852904 | KCNH2 | n.3856A>T c.3023A>T (p.Gln1008Leu) c.2003A>T (p.Gln668Leu) c.2723A>T (p.Gln908Leu) c.*103A>T (n.*103A>T) c.2873A>T (p.Gln958Leu) c.2846A>T (p.Gln949Leu) | gnomAD v4 |
7 | g.150947457T>C | CA369852906 | KCNH2 | n.3856A>G c.3023A>G (p.Gln1008Arg) c.2003A>G (p.Gln668Arg) c.2723A>G (p.Gln908Arg) c.*103A>G (n.*103A>G) c.2873A>G (p.Gln958Arg) c.2846A>G (p.Gln949Arg) | gnomAD v4 |
7 | g.150947457T>G | CA369852905 | KCNH2 | n.3856A>C c.3023A>C (p.Gln1008Pro) c.2003A>C (p.Gln668Pro) c.2723A>C (p.Gln908Pro) c.*103A>C (n.*103A>C) c.2873A>C (p.Gln958Pro) c.2846A>C (p.Gln949Pro) | |
7 | g.150947458G>A | CA369852907 | KCNH2 | n.3855C>T c.3022C>T (p.Gln1008Ter) c.2002C>T (p.Gln668Ter) c.2722C>T (p.Gln908Ter) c.*102C>T (n.*102C>T) c.2872C>T (p.Gln958Ter) c.2845C>T (p.Gln949Ter) | ClinVar gnomAD v4 |
7 | g.150947458G>C | CA369852908 | KCNH2 | n.3855C>G c.3022C>G (p.Gln1008Glu) c.2002C>G (p.Gln668Glu) c.2722C>G (p.Gln908Glu) c.*102C>G (n.*102C>G) c.2872C>G (p.Gln958Glu) c.2845C>G (p.Gln949Glu) | |
7 | g.150947458G>T | CA369852909 | KCNH2 | n.3855C>A c.3022C>A (p.Gln1008Lys) c.2002C>A (p.Gln668Lys) c.2722C>A (p.Gln908Lys) c.*102C>A (n.*102C>A) c.2872C>A (p.Gln958Lys) c.2845C>A (p.Gln949Lys) | gnomAD v4 |
7 | g.150947459G>A | CA036369 | KCNH2 | n.3854C>T c.3021C>T (p.Arg1007=) c.2001C>T (p.Arg667=) c.2721C>T (p.Arg907=) c.*101C>T (n.*101C>T) c.2871C>T (p.Arg957=) c.2844C>T (p.Arg948=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947459G>C | CA458644926 | KCNH2 | n.3854C>G c.3021C>G (p.Arg1007=) c.2001C>G (p.Arg667=) c.2721C>G (p.Arg907=) c.*101C>G (n.*101C>G) c.2871C>G (p.Arg957=) c.2844C>G (p.Arg948=) | gnomAD v4 |
7 | g.150947459G= | CA1752429342 | KCNH2 | n.3854C= c.3021C= (p.Arg1007=) c.2001C= (p.Arg667=) c.2721C= (p.Arg907=) c.*101C= (n.*101C=) c.2871C= (p.Arg957=) c.2844C= (p.Arg948=) | |
7 | g.150947459G>T | CA458644927 | KCNH2 | n.3854C>A c.3021C>A (p.Arg1007=) c.2001C>A (p.Arg667=) c.2721C>A (p.Arg907=) c.*101C>A (n.*101C>A) c.2871C>A (p.Arg957=) c.2844C>A (p.Arg948=) | |
7 | g.150947460C>A | CA036361 | KCNH2 | n.3853G>T c.3020G>T (p.Arg1007Leu) c.2000G>T (p.Arg667Leu) c.2720G>T (p.Arg907Leu) c.*100G>T (n.*100G>T) c.2870G>T (p.Arg957Leu) c.2843G>T (p.Arg948Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.150947460C= | CA1752429349 | KCNH2 | n.3853G= c.3020G= (p.Arg1007=) c.2000G= (p.Arg667=) c.2720G= (p.Arg907=) c.*100G= (n.*100G=) c.2870G= (p.Arg957=) c.2843G= (p.Arg948=) | |
7 | g.150947460C>G | CA369852910 | KCNH2 | n.3853G>C c.3020G>C (p.Arg1007Pro) c.2000G>C (p.Arg667Pro) c.2720G>C (p.Arg907Pro) c.*100G>C (n.*100G>C) c.2870G>C (p.Arg957Pro) c.2843G>C (p.Arg948Pro) | gnomAD v4 |
7 | g.150947460C>T | CA007832 | KCNH2 | n.3853G>A c.3020G>A (p.Arg1007His) c.2000G>A (p.Arg667His) c.2720G>A (p.Arg907His) c.*100G>A (n.*100G>A) c.2870G>A (p.Arg957His) c.2843G>A (p.Arg948His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947461G>A | CA369852911 | KCNH2 | n.3852C>T c.3019C>T (p.Arg1007Cys) c.1999C>T (p.Arg667Cys) c.2719C>T (p.Arg907Cys) c.*99C>T (n.*99C>T) c.2869C>T (p.Arg957Cys) c.2842C>T (p.Arg948Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947461G>C | CA369852912 | KCNH2 | n.3852C>G c.3019C>G (p.Arg1007Gly) c.1999C>G (p.Arg667Gly) c.2719C>G (p.Arg907Gly) c.*99C>G (n.*99C>G) c.2869C>G (p.Arg957Gly) c.2842C>G (p.Arg948Gly) | |
7 | g.150947461G= | CA1752429353 | KCNH2 | n.3852C= c.3019C= (p.Arg1007=) c.1999C= (p.Arg667=) c.2719C= (p.Arg907=) c.*99C= (n.*99C=) c.2869C= (p.Arg957=) c.2842C= (p.Arg948=) | |
7 | g.150947461G>T | CA369852913 | KCNH2 | n.3852C>A c.3019C>A (p.Arg1007Ser) c.1999C>A (p.Arg667Ser) c.2719C>A (p.Arg907Ser) c.*99C>A (n.*99C>A) c.2869C>A (p.Arg957Ser) c.2842C>A (p.Arg948Ser) | gnomAD v4 |
7 | g.150947462dup | CA2695208797 | KCNH2 | n.3852dup c.3019dup (p.Arg1007ProfsTer?) c.1999dup (p.Arg667ProfsTer?) c.2719dup (p.Arg907ProfsTer?) c.*99dup (n.*99dup) c.2869dup (p.Arg957ProfsTer?) c.2842dup (p.Arg948ProfsTer?) | |
7 | g.150947462del | CA2579062786 | KCNH2 | n.3852del c.3019del (p.Arg1007AlafsTer?) c.1999del (p.Arg667AlafsTer?) c.2719del (p.Arg907AlafsTer?) c.*99del (n.*99del) c.2869del (p.Arg957AlafsTer?) c.2842del (p.Arg948AlafsTer?) | gnomAD v4 |
7 | g.150947462G>A | CA458644929 | KCNH2 | n.3851C>T c.3018C>T (p.Gly1006=) c.1998C>T (p.Gly666=) c.2718C>T (p.Gly906=) c.*98C>T (n.*98C>T) c.2868C>T (p.Gly956=) c.2841C>T (p.Gly947=) | ClinVar gnomAD v4 |
7 | g.150947462G>C | CA458644930 | KCNH2 | n.3851C>G c.3018C>G (p.Gly1006=) c.1998C>G (p.Gly666=) c.2718C>G (p.Gly906=) c.*98C>G (n.*98C>G) c.2868C>G (p.Gly956=) c.2841C>G (p.Gly947=) | |
7 | g.150947462G>T | CA458644931 | KCNH2 | n.3851C>A c.3018C>A (p.Gly1006=) c.1998C>A (p.Gly666=) c.2718C>A (p.Gly906=) c.*98C>A (n.*98C>A) c.2868C>A (p.Gly956=) c.2841C>A (p.Gly947=) | gnomAD v4 |
7 | g.150947462_150947463delinsGC | CA1752429355 | KCNH2 | n.3850_3851delinsGC c.3017_3018delinsGC (p.Gly1006=) c.1997_1998delinsGC (p.Gly666=) c.2717_2718delinsGC (p.Gly906=) c.*97_*98delinsGC (n.*97_*98delinsGC) c.2867_2868delinsGC (p.Gly956=) c.2840_2841delinsGC (p.Gly947=) | |
7 | g.150947463C>A | CA369852915 | KCNH2 | n.3850G>T c.3017G>T (p.Gly1006Val) c.1997G>T (p.Gly666Val) c.2717G>T (p.Gly906Val) c.*97G>T (n.*97G>T) c.2867G>T (p.Gly956Val) c.2840G>T (p.Gly947Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.150947463C= | CA1752429359 | KCNH2 | n.3850G= c.3017G= (p.Gly1006=) c.1997G= (p.Gly666=) c.2717G= (p.Gly906=) c.*97G= (n.*97G=) c.2867G= (p.Gly956=) c.2840G= (p.Gly947=) | |
7 | g.150947463C>G | CA036327 | KCNH2 | n.3850G>C c.3017G>C (p.Gly1006Ala) c.1997G>C (p.Gly666Ala) c.2717G>C (p.Gly906Ala) c.*97G>C (n.*97G>C) c.2867G>C (p.Gly956Ala) c.2840G>C (p.Gly947Ala) | dbSNP ExAC |
7 | g.150947463C>T | CA369852914 | KCNH2 | n.3850G>A c.3017G>A (p.Gly1006Asp) c.1997G>A (p.Gly666Asp) c.2717G>A (p.Gly906Asp) c.*97G>A (n.*97G>A) c.2867G>A (p.Gly956Asp) c.2840G>A (p.Gly947Asp) | ClinVar gnomAD v4 |
7 | g.150947466del | CA007808 | KCNH2 | n.3850del c.3017del (p.Gly1006AlafsTer?) c.1997del (p.Gly666AlafsTer?) c.2717del (p.Gly906AlafsTer?) c.*97del (n.*97del) c.2867del (p.Gly956AlafsTer?) c.2840del (p.Gly947AlafsTer?) | ClinVar dbSNP gnomAD v4 |
7 | g.150947464C>A | CA369852916 | KCNH2 | n.3849G>T c.3016G>T (p.Gly1006Cys) c.1996G>T (p.Gly666Cys) c.2716G>T (p.Gly906Cys) c.*96G>T (n.*96G>T) c.2866G>T (p.Gly956Cys) c.2839G>T (p.Gly947Cys) | gnomAD v4 |
7 | g.150947464C>G | CA369852917 | KCNH2 | n.3849G>C c.3016G>C (p.Gly1006Arg) c.1996G>C (p.Gly666Arg) c.2716G>C (p.Gly906Arg) c.*96G>C (n.*96G>C) c.2866G>C (p.Gly956Arg) c.2839G>C (p.Gly947Arg) | |
7 | g.150947464C>T | CA369852918 | KCNH2 | n.3849G>A c.3016G>A (p.Gly1006Ser) c.1996G>A (p.Gly666Ser) c.2716G>A (p.Gly906Ser) c.*96G>A (n.*96G>A) c.2866G>A (p.Gly956Ser) c.2839G>A (p.Gly947Ser) | ClinVar gnomAD v4 |
7 | g.150947465C>A | CA458644935 | KCNH2 | n.3848G>T c.3015G>T (p.Arg1005=) c.1995G>T (p.Arg665=) c.2715G>T (p.Arg905=) c.*95G>T (n.*95G>T) c.2865G>T (p.Arg955=) c.2838G>T (p.Arg946=) | |
7 | g.150947465C= | CA1752429366 | KCNH2 | n.3848G= c.3015G= (p.Arg1005=) c.1995G= (p.Arg665=) c.2715G= (p.Arg905=) c.*95G= (n.*95G=) c.2865G= (p.Arg955=) c.2838G= (p.Arg946=) | |
7 | g.150947465C>G | CA458644932 | KCNH2 | n.3848G>C c.3015G>C (p.Arg1005=) c.1995G>C (p.Arg665=) c.2715G>C (p.Arg905=) c.*95G>C (n.*95G>C) c.2865G>C (p.Arg955=) c.2838G>C (p.Arg946=) | |
7 | g.150947465C>T | CA458644933 | KCNH2 | n.3848G>A c.3015G>A (p.Arg1005=) c.1995G>A (p.Arg665=) c.2715G>A (p.Arg905=) c.*95G>A (n.*95G>A) c.2865G>A (p.Arg955=) c.2838G>A (p.Arg946=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.150947466C>A | CA369852919 | KCNH2 | n.3847G>T c.3014G>T (p.Arg1005Leu) c.1994G>T (p.Arg665Leu) c.2714G>T (p.Arg905Leu) c.*94G>T (n.*94G>T) c.2864G>T (p.Arg955Leu) c.2837G>T (p.Arg946Leu) | gnomAD v4 |
7 | g.150947466C= | CA1752429371 | KCNH2 | n.3847G= c.3014G= (p.Arg1005=) c.1994G= (p.Arg665=) c.2714G= (p.Arg905=) c.*94G= (n.*94G=) c.2864G= (p.Arg955=) c.2837G= (p.Arg946=) | |
7 | g.150947466C>G | CA369852920 | KCNH2 | n.3847G>C c.3014G>C (p.Arg1005Pro) c.1994G>C (p.Arg665Pro) c.2714G>C (p.Arg905Pro) c.*94G>C (n.*94G>C) c.2864G>C (p.Arg955Pro) c.2837G>C (p.Arg946Pro) | |
7 | g.150947466C>T | CA007800 | KCNH2 | n.3847G>A c.3014G>A (p.Arg1005Gln) c.1994G>A (p.Arg665Gln) c.2714G>A (p.Arg905Gln) c.*94G>A (n.*94G>A) c.2864G>A (p.Arg955Gln) c.2837G>A (p.Arg946Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |