Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.150947163_150948277delCA1139660328KCNH2n.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
7g.150947350_150947368delinsCATCCAGCCTGCTCTCCACCA1752428447KCNH2n.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=)
7g.150947351_150947368delinsTGCA007983KCNH2n.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
7g.150947352_150947373delinsTCCAGCCTGCTCTCCACGTCGCCA1752428458KCNH2n.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=)
7g.150947355_150947375delCA16612102KCNH2n.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
7g.150947355_150947377delCA2695208777KCNH2n.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?)
7g.150947357_150947402delCA2695208778KCNH2n.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)
7g.150947358_150947377delinsTGGACA2695208779KCNH2n.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)
7g.150947360_150947377delinsCCGCCGACCCCA2580614279KCNH2n.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
7g.150947362T>ACA369852585KCNH2n.3951A>T
c.3118A>T (p.Ser1040Cys)
c.2098A>T (p.Ser700Cys)
c.2818A>T (p.Ser940Cys)
c.2968A>T (p.Ser990Cys)
c.2941A>T (p.Ser981Cys)
7g.150947362T>CCA008000KCNH2n.3951A>G
c.3118A>G (p.Ser1040Gly)
c.2098A>G (p.Ser700Gly)
c.2818A>G (p.Ser940Gly)
c.2968A>G (p.Ser990Gly)
c.2941A>G (p.Ser981Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947362T>GCA369852586KCNH2n.3951A>C
c.3118A>C (p.Ser1040Arg)
c.2098A>C (p.Ser700Arg)
c.2818A>C (p.Ser940Arg)
c.2968A>C (p.Ser990Arg)
c.2941A>C (p.Ser981Arg)
7g.150947362T=CA1752428493KCNH2n.3951A=
c.3118A= (p.Ser1040=)
c.2098A= (p.Ser700=)
c.2818A= (p.Ser940=)
c.2968A= (p.Ser990=)
c.2941A= (p.Ser981=)
7g.150947363C>ACA369852588KCNH2n.3950G>T
c.3117G>T (p.Glu1039Asp)
c.2097G>T (p.Glu699Asp)
c.2817G>T (p.Glu939Asp)
c.2967G>T (p.Glu989Asp)
c.2940G>T (p.Glu980Asp)
 gnomAD v4
7g.150947363C>GCA369852590KCNH2n.3950G>C
c.3117G>C (p.Glu1039Asp)
c.2097G>C (p.Glu699Asp)
c.2817G>C (p.Glu939Asp)
c.2967G>C (p.Glu989Asp)
c.2940G>C (p.Glu980Asp)
7g.150947363C>TCA458644819KCNH2n.3950G>A
c.3117G>A (p.Glu1039=)
c.2097G>A (p.Glu699=)
c.2817G>A (p.Glu939=)
c.2967G>A (p.Glu989=)
c.2940G>A (p.Glu980=)
 gnomAD v4
7g.150947364T>ACA369852592KCNH2n.3949A>T
c.3116A>T (p.Glu1039Val)
c.2096A>T (p.Glu699Val)
c.2816A>T (p.Glu939Val)
c.2966A>T (p.Glu989Val)
c.2939A>T (p.Glu980Val)
7g.150947364T>CCA369852593KCNH2n.3949A>G
c.3116A>G (p.Glu1039Gly)
c.2096A>G (p.Glu699Gly)
c.2816A>G (p.Glu939Gly)
c.2966A>G (p.Glu989Gly)
c.2939A>G (p.Glu980Gly)
 gnomAD v4
7g.150947364T>GCA369852594KCNH2n.3949A>C
c.3116A>C (p.Glu1039Ala)
c.2096A>C (p.Glu699Ala)
c.2816A>C (p.Glu939Ala)
c.2966A>C (p.Glu989Ala)
c.2939A>C (p.Glu980Ala)
7g.150947365C>ACA369852599KCNH2n.3948G>T
c.3115G>T (p.Glu1039Ter)
c.2095G>T (p.Glu699Ter)
c.2815G>T (p.Glu939Ter)
c.2965G>T (p.Glu989Ter)
c.2938G>T (p.Glu980Ter)
 gnomAD v4
7g.150947365C=CA1752428497KCNH2n.3948G=
c.3115G= (p.Glu1039=)
c.2095G= (p.Glu699=)
c.2815G= (p.Glu939=)
c.2965G= (p.Glu989=)
c.2938G= (p.Glu980=)
7g.150947365C>GCA369852595KCNH2n.3948G>C
c.3115G>C (p.Glu1039Gln)
c.2095G>C (p.Glu699Gln)
c.2815G>C (p.Glu939Gln)
c.2965G>C (p.Glu989Gln)
c.2938G>C (p.Glu980Gln)
 gnomAD v4
7g.150947365C>TCA369852597KCNH2n.3948G>A
c.3115G>A (p.Glu1039Lys)
c.2095G>A (p.Glu699Lys)
c.2815G>A (p.Glu939Lys)
c.2965G>A (p.Glu989Lys)
c.2938G>A (p.Glu980Lys)
 dbSNP gnomAD v2 gnomAD v4
7g.150947366C>ACA458644820KCNH2n.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
7g.150947366C>GCA458644821KCNH2n.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=)
7g.150947366C>TCA458644822KCNH2n.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
7g.150947367A=CA1752428506KCNH2n.3946T=
c.3113T= (p.Val1038=)
c.2093T= (p.Val698=)
c.2813T= (p.Val938=)
c.2963T= (p.Val988=)
c.2936T= (p.Val979=)
7g.150947367A>CCA369852600KCNH2n.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)
7g.150947367A>GCA369852601KCNH2n.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
7g.150947367A>TCA369852603KCNH2n.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
7g.150947367delinsCCGGGGCCGCCGACCCA2695208781KCNH2n.3946delinsGGTCGGCGGCCCCGG
c.3113delinsGGTCGGCGGCCCCGG (p.Val1038GlyfsTer24)
c.2093delinsGGTCGGCGGCCCCGG (p.Val698GlyfsTer24)
c.2813delinsGGTCGGCGGCCCCGG (p.Val938GlyfsTer24)
c.2963delinsGGTCGGCGGCCCCGG (p.Val988GlyfsTer24)
c.2936delinsGGTCGGCGGCCCCGG (p.Val979GlyfsTer24)
7g.150947367_150947381delinsACGTCGCCCCGGGGCCA1752428508KCNH2n.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=)
7g.150947369_150947388delCA2695208780KCNH2n.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?)
7g.150947368C>ACA037127KCNH2n.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
7g.150947368C=CA1752428537KCNH2n.3945G=
c.3112G= (p.Val1038=)
c.2092G= (p.Val698=)
c.2812G= (p.Val938=)
c.2962G= (p.Val988=)
c.2935G= (p.Val979=)
7g.150947368C>GCA369852608KCNH2n.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)
7g.150947368C>TCA007991KCNH2n.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
7g.150947368_150947369insCGTCGCCCCGGGGCCA918162868KCNH2n.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
7g.150947370_150947372dupCA2685601815KCNH2n.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
7g.150947369_150947373dupCA1139660329KCNH2n.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
7g.150947369_150947374dupCA579075354KCNH2n.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
7g.150947368_150947375delinsGTCA2580077701KCNH2n.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
7g.150947369_150947375dupCA658797027KCNH2n.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
7g.150947370_150947377dupCA305338KCNH2n.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
7g.150947370_150947383dupCA2685601816KCNH2n.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
7g.150947370_150947383delCA16618397KCNH2n.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
7g.150947370_150947386delCA658761307KCNH2n.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?)
7g.150947368_150947403delCA2685601817KCNH2n.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
7g.150947369G>ACA007976KCNH2n.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
7g.150947369G>CCA369852611KCNH2n.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)

Number of alleles fetched