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.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.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.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.150947375_150947385dupCA16612298KCNH2n.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
7g.150947375_150947385delCA007922KCNH2n.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
7g.150947373_150947386delCA2579062673KCNH2n.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?)
7g.150947372_150953685dupCA2580614280KCNH2n.1962-831_3942dup
c.1129-831_3109dup
c.109-831_2089dup
c.829-831_2809dup
c.979-831_2959dup
c.952-831_2932dup
7g.150947375_150947382delCA2499218782KCNH2n.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
7g.150947373_150947385dupCA658797028KCNH2n.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
7g.150947373_150947387delinsCCCCGGGGCCGCCGACA1752428603KCNH2n.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=)
7g.150947376_150947382dupCA658656011KCNH2n.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
7g.150947376_150947385dupCA2499218783KCNH2n.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
7g.150947380_150947393delCA658761310KCNH2n.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
7g.150947378_150947386dupCA2685601852KCNH2n.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
7g.150947375_150947388delinsGACA2580077706KCNH2n.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
7g.150947377_150947382delinsGGGGCCCA1752428662KCNH2n.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=)
7g.150947377_150947390delinsGGGGCCGCCGACCCCA1752428663KCNH2n.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=)
7g.150947379_150947383delCA579075356KCNH2n.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
7g.150947382_150947394delCA658760375KCNH2n.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
7g.150947380_150947383dupCA2697557663KCNH2n.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
7g.150947384_150947385insGACGGCCGCCA2573052837KCNH2n.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
7g.150947379_150947389delCA2695208787KCNH2n.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?)
7g.150947384_150947386dupCA16609793KCNH2n.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
7g.150947382dupCA1139771242KCNH2n.3932dup
c.3099dup (p.Pro1034AlafsTer?)
c.2079dup (p.Pro694AlafsTer?)
c.2799dup (p.Pro934AlafsTer?)
c.2949dup (p.Pro984AlafsTer?)
c.2922dup (p.Pro975AlafsTer?)
ClinVar
7g.150947382delCA16042677KCNH2n.3932del
c.3099del (p.Arg1035GlyfsTer22)
c.2079del (p.Arg695GlyfsTer22)
c.2799del (p.Arg935GlyfsTer22)
c.2949del (p.Arg985GlyfsTer22)
c.2922del (p.Arg976GlyfsTer22)
ClinVar dbSNP
7g.150947382_150947385dupCA305336KCNH2n.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
7g.150947381_150947385dupCA10581150KCNH2n.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
7g.150947382_150947385delCA2573141845KCNH2n.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
7g.150947381_150947386delinsGCGACA2695208788KCNH2n.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?)
7g.150947381_150947394delCA2499218784KCNH2n.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
7g.150947382C>ACA369852660KCNH2n.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
7g.150947382C=CA1752428724KCNH2n.3931G=
c.3098G= (p.Arg1033=)
c.2078G= (p.Arg693=)
c.2798G= (p.Arg933=)
c.2948G= (p.Arg983=)
c.2921G= (p.Arg974=)
7g.150947382C>GCA369852662KCNH2n.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)
7g.150947382C>TCA037004KCNH2n.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
7g.150947383_150947384dupCA658656012KCNH2n.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
7g.150947383G>ACA007914KCNH2n.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
7g.150947383G>CCA369852664KCNH2n.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)
7g.150947383G=CA1752428736KCNH2n.3930C=
c.3097C= (p.Arg1033=)
c.2077C= (p.Arg693=)
c.2797C= (p.Arg933=)
c.2947C= (p.Arg983=)
c.2920C= (p.Arg974=)
7g.150947383G>TCA16605265KCNH2n.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
7g.150947383dupCA2695208789KCNH2n.3930dup
c.3097dup (p.Arg1033ProfsTer?)
c.2077dup (p.Arg693ProfsTer?)
c.2797dup (p.Arg933ProfsTer?)
c.2947dup (p.Arg983ProfsTer?)
c.2920dup (p.Arg974ProfsTer?)
7g.150947383_150947384delinsATCA2739279285KCNH2n.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
7g.150947383_150947393delinsGCCGACCCGGGCA1752428737KCNH2n.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=)
7g.150947384C>ACA458644849KCNH2n.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
7g.150947384C=CA1752428754KCNH2n.3929G=
c.3096G= (p.Arg1032=)
c.2076G= (p.Arg692=)
c.2796G= (p.Arg932=)
c.2946G= (p.Arg982=)
c.2919G= (p.Arg973=)
7g.150947384C>GCA458644848KCNH2n.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=)
7g.150947384C>TCA458644847KCNH2n.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
7g.150947385_150947386insCGCCCCA2695208790KCNH2n.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)
7g.150947385_150947390dupCA579075357KCNH2n.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
7g.150947387_150947391dupCA658656013KCNH2n.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
7g.150947387_150947391delCA2778425790KCNH2n.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?)
7g.150947384_150947393delinsGCCA658797030KCNH2n.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
7g.150947385C>ACA036959KCNH2n.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
7g.150947385C=CA1752428769KCNH2n.3928G=
c.3095G= (p.Arg1032=)
c.2075G= (p.Arg692=)
c.2795G= (p.Arg932=)
c.2945G= (p.Arg982=)
c.2918G= (p.Arg973=)
7g.150947385C>GCA169071899KCNH2n.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
7g.150947385C>TCA007902KCNH2n.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
7g.150947385_150947386delinsCGCA1752428768KCNH2n.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=)
7g.150947385_150947386dupCA2697557664KCNH2n.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
7g.150947386delCA348971KCNH2n.3927del
c.3094del (p.Arg1032GlyfsTer25)
c.2074del (p.Arg692GlyfsTer25)
c.2794del (p.Arg932GlyfsTer25)
c.2944del (p.Arg982GlyfsTer25)
c.2917del (p.Arg973GlyfsTer25)
ClinVar dbSNP
7g.150947386G>ACA007892KCNH2n.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
7g.150947386G>CCA369852668KCNH2n.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
7g.150947386G=CA1752428781KCNH2n.3927C=
c.3094C= (p.Arg1032=)
c.2074C= (p.Arg692=)
c.2794C= (p.Arg932=)
c.2944C= (p.Arg982=)
c.2917C= (p.Arg973=)
7g.150947386G>TCA458644851KCNH2n.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
7g.150947386_150947387delCA2580077711KCNH2n.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
7g.150947387A>CCA458644852KCNH2n.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
7g.150947387A>GCA458644853KCNH2n.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=)
7g.150947387A>TCA458644854KCNH2n.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=)
7g.150947387_150947388delinsACCA1752428793KCNH2n.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=)
7g.150947387_150947390dupCA658797031KCNH2n.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
7g.150947388C>ACA369852674KCNH2n.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
7g.150947388C=CA1752428804KCNH2n.3925G=
c.3092G= (p.Gly1031=)
c.2072G= (p.Gly691=)
c.2792G= (p.Gly931=)
c.2942G= (p.Gly981=)
c.2915G= (p.Gly972=)
7g.150947388C>GCA369852673KCNH2n.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)
7g.150947388C>TCA369852672KCNH2n.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
7g.150947390dupCA2695208792KCNH2n.3925dup
c.3092dup (p.Arg1032SerfsTer?)
c.2072dup (p.Arg692SerfsTer?)
c.2792dup (p.Arg932SerfsTer?)
c.2942dup (p.Arg982SerfsTer?)
c.2915dup (p.Arg973SerfsTer?)
7g.150947390delCA1108704617KCNH2n.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
7g.150947391_150947392insCCCCGCA2695208791KCNH2n.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)
7g.150947389_150947394delCA2573141846KCNH2n.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
7g.150947389C>ACA369852676KCNH2n.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
7g.150947389C=CA1752428814KCNH2n.3924G=
c.3091G= (p.Gly1031=)
c.2071G= (p.Gly691=)
c.2791G= (p.Gly931=)
c.2941G= (p.Gly981=)
c.2914G= (p.Gly972=)
7g.150947389C>GCA369852678KCNH2n.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)
7g.150947389C>TCA369852679KCNH2n.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)
7g.150947390C>ACA458644855KCNH2n.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
7g.150947390C=CA1752428828KCNH2n.3923G=
c.3090G= (p.Pro1030=)
c.2070G= (p.Pro690=)
c.2790G= (p.Pro930=)
c.2940G= (p.Pro980=)
c.2913G= (p.Pro971=)
7g.150947390C>GCA036902KCNH2n.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
7g.150947390C>TCA458644856KCNH2n.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
7g.150947390_150947392delinsCGGCA1752428823KCNH2n.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=)
7g.150947391_150947665dupCA645372846KCNH2n.3740_3923dup
c.2907_3090dup
c.1887_2070dup
c.2607_2790dup
c.2757_2940dup
c.2730_2913dup
ClinVar
7g.150947391G>ACA169071928KCNH2n.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
7g.150947391G>CCA369852682KCNH2n.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
7g.150947391G=CA1752428840KCNH2n.3922C=
c.3089C= (p.Pro1030=)
c.2069C= (p.Pro690=)
c.2789C= (p.Pro930=)
c.2939C= (p.Pro980=)
c.2912C= (p.Pro971=)
7g.150947391G>TCA369852683KCNH2n.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
7g.150947391_150947392delinsCGGGAGACCCCA658823158KCNH2n.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
7g.150947392G>ACA169071933KCNH2n.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
7g.150947392G>CCA369852685KCNH2n.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)
7g.150947392G=CA1752428848KCNH2n.3921C=
c.3088C= (p.Pro1030=)
c.2068C= (p.Pro690=)
c.2788C= (p.Pro930=)
c.2938C= (p.Pro980=)
c.2911C= (p.Pro971=)
7g.150947392G>TCA369852686KCNH2n.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
7g.150947393G>ACA458644858KCNH2n.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
7g.150947393G>CCA369852688KCNH2n.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)
7g.150947393G>TCA369852690KCNH2n.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
7g.150947393_150947394dupCA2573141847KCNH2n.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
7g.150947394C>ACA369852695KCNH2n.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
7g.150947394C>GCA369852693KCNH2n.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)
7g.150947394C>TCA369852691KCNH2n.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
7g.150947395T>ACA369852697KCNH2n.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)
7g.150947395T>CCA369852699KCNH2n.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
7g.150947395T>GCA369852698KCNH2n.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)
7g.150947396G>ACA458644859KCNH2n.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=)
7g.150947396G>CCA458644861KCNH2n.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=)
7g.150947396G>TCA458644862KCNH2n.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
7g.150947397G>ACA169071941KCNH2n.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
7g.150947397G>CCA369852702KCNH2n.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)
7g.150947397G=CA1752428853KCNH2n.3916C=
c.3083C= (p.Ser1028=)
c.2063C= (p.Ser688=)
c.2783C= (p.Ser928=)
c.2933C= (p.Ser978=)
c.2906C= (p.Ser969=)
7g.150947397G>TCA369852704KCNH2n.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
7g.150947398A>CCA369852706KCNH2n.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)
7g.150947398A>GCA369852707KCNH2n.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
7g.150947398A>TCA369852709KCNH2n.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
7g.150947399G>ACA458644864KCNH2n.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
7g.150947399G>CCA458644865KCNH2n.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=)
7g.150947399G=CA1752428856KCNH2n.3914C=
c.3081C= (p.Leu1027=)
c.2061C= (p.Leu687=)
c.2781C= (p.Leu927=)
c.2931C= (p.Leu977=)
c.2904C= (p.Leu968=)
7g.150947399G>TCA458644863KCNH2n.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
7g.150947400A=CA1752428859KCNH2n.3913T=
c.3080T= (p.Leu1027=)
c.2060T= (p.Leu687=)
c.2780T= (p.Leu927=)
c.2930T= (p.Leu977=)
c.2903T= (p.Leu968=)
7g.150947400A>CCA369852710KCNH2n.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)
7g.150947400A>GCA369852711KCNH2n.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)
7g.150947400A>TCA369852712KCNH2n.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
7g.150947401G>ACA369852715KCNH2n.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)
7g.150947401G>CCA369852717KCNH2n.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)
7g.150947401G=CA1752428865KCNH2n.3912C=
c.3079C= (p.Leu1027=)
c.2059C= (p.Leu687=)
c.2779C= (p.Leu927=)
c.2929C= (p.Leu977=)
c.2902C= (p.Leu968=)
7g.150947401G>TCA007884KCNH2n.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
7g.150947405dupCA305335KCNH2n.3912dup
c.3079dup (p.Leu1027ProfsTer?)
c.2059dup (p.Leu687ProfsTer?)
c.2779dup (p.Leu927ProfsTer?)
c.2929dup (p.Leu977ProfsTer?)
c.2902dup (p.Leu968ProfsTer?)
ClinVar dbSNP
7g.150947405delCA2573332603KCNH2n.3912del
c.3079del (p.Leu1027SerfsTer30)
c.2059del (p.Leu687SerfsTer30)
c.2779del (p.Leu927SerfsTer30)
c.2929del (p.Leu977SerfsTer30)
c.2902del (p.Leu968SerfsTer30)
7g.150947402G>ACA458644866KCNH2n.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
7g.150947402G>CCA458644867KCNH2n.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=)
7g.150947402G>TCA458644868KCNH2n.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
7g.150947403G>ACA169071957KCNH2n.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
7g.150947403G>CCA036603KCNH2n.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)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947403G=CA1752428872KCNH2n.3910C=
c.3077C= (p.Pro1026=)
c.2057C= (p.Pro686=)
c.2777C= (p.Pro926=)
c.2927C= (p.Pro976=)
c.2900C= (p.Pro967=)
7g.150947403G>TCA369852719KCNH2n.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)
7g.150947404G>ACA169071958KCNH2n.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
7g.150947404G>CCA369852722KCNH2n.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)
7g.150947404G=CA1752428876KCNH2n.3909C=
c.3076C= (p.Pro1026=)
c.2056C= (p.Pro686=)
c.2776C= (p.Pro926=)
c.2926C= (p.Pro976=)
c.2899C= (p.Pro967=)
7g.150947404G>TCA369852723KCNH2n.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
7g.150947405G>ACA169071959KCNH2n.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
7g.150947405G>CCA369852726KCNH2n.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
7g.150947405G=CA1752428881KCNH2n.3908C=
c.3075C= (p.Ile1025=)
c.2055C= (p.Ile685=)
c.2775C= (p.Ile925=)
c.2925C= (p.Ile975=)
c.2898C= (p.Ile966=)
7g.150947405G>TCA169071961KCNH2n.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
7g.150947406A>CCA369852728KCNH2n.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)
7g.150947406A>GCA369852730KCNH2n.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
7g.150947406A>TCA369852732KCNH2n.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
7g.150947407T>ACA369852733KCNH2n.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
7g.150947407T>CCA369852734KCNH2n.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
7g.150947407T>GCA369852736KCNH2n.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)
gnomAD v3 gnomAD v4
7g.150947407T=CA1752428885KCNH2n.3906A=
c.3073A= (p.Ile1025=)
c.2053A= (p.Ile685=)
c.2773A= (p.Ile925=)
c.2923A= (p.Ile975=)
c.2896A= (p.Ile966=)
7g.150947408G>ACA036489KCNH2n.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
7g.150947408G>CCA369852739KCNH2n.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)
7g.150947408G=CA1752428889KCNH2n.3905C=
c.3072C= (p.Asn1024=)
c.2052C= (p.Asn684=)
c.2772C= (p.Asn924=)
c.2922C= (p.Asn974=)
c.2895C= (p.Asn965=)
7g.150947408G>TCA369852738KCNH2n.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
7g.150947409T>ACA369852741KCNH2n.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)
7g.150947409T>CCA369852742KCNH2n.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
7g.150947409T>GCA369852743KCNH2n.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)
7g.150947409T=CA1752428894KCNH2n.3904A=
c.3071A= (p.Asn1024=)
c.2051A= (p.Asn684=)
c.2771A= (p.Asn924=)
c.2921A= (p.Asn974=)
c.2894A= (p.Asn965=)
7g.150947410T>ACA369852745KCNH2n.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
7g.150947410T>CCA369852746KCNH2n.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)
7g.150947410T>GCA369852748KCNH2n.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
7g.150947410T=CA1752428897KCNH2n.3903A=
c.3070A= (p.Asn1024=)
c.2050A= (p.Asn684=)
c.2770A= (p.Asn924=)
c.2920A= (p.Asn974=)
c.2893A= (p.Asn965=)
7g.150947410_150947413delinsTGAGCA1752428895KCNH2n.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=)
7g.150947411G>ACA458644870KCNH2n.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
7g.150947411G>CCA458644871KCNH2n.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=)
7g.150947411G=CA1752428902KCNH2n.3902C=
c.3069C= (p.Leu1023=)
c.2049C= (p.Leu683=)
c.2769C= (p.Leu923=)
c.2919C= (p.Leu973=)
c.2892C= (p.Leu964=)
7g.150947411G>TCA458644872KCNH2n.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
7g.150947415_150947417delCA835221438KCNH2n.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
7g.150947412A=CA1752428904KCNH2n.3901T=
c.3068T= (p.Leu1023=)
c.2048T= (p.Leu683=)
c.2768T= (p.Leu923=)
c.2918T= (p.Leu973=)
c.2891T= (p.Leu964=)
7g.150947412A>CCA369852750KCNH2n.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)
7g.150947412A>GCA369852752KCNH2n.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
7g.150947412A>TCA369852753KCNH2n.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
7g.150947413G>ACA369852755KCNH2n.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
7g.150947413G>CCA369852757KCNH2n.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
7g.150947413G>TCA369852758KCNH2n.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)
7g.150947414G>ACA169071975KCNH2n.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
7g.150947414G>CCA458644873KCNH2n.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=)
7g.150947414G=CA1752428908KCNH2n.3899C=
c.3066C= (p.Leu1022=)
c.2046C= (p.Leu682=)
c.2766C= (p.Leu922=)
c.2916C= (p.Leu972=)
c.2889C= (p.Leu963=)
7g.150947414G>TCA458644874KCNH2n.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=)
7g.150947415delCA2695208793KCNH2n.3898del
c.3065del (p.Leu1022ProfsTer?)
c.2045del (p.Leu682ProfsTer?)
c.2765del (p.Leu922ProfsTer?)
c.2915del (p.Leu972ProfsTer?)
c.2888del (p.Leu963ProfsTer?)
7g.150947415A=CA1752428912KCNH2n.3898T=
c.3065T= (p.Leu1022=)
c.2045T= (p.Leu682=)
c.2765T= (p.Leu922=)
c.2915T= (p.Leu972=)
c.2888T= (p.Leu963=)
7g.150947415A>CCA369852760KCNH2n.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
7g.150947415A>GCA369852761KCNH2n.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
7g.150947415A>TCA369852763KCNH2n.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
7g.150947416G>ACA369852765KCNH2n.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
7g.150947416G>CCA369852766KCNH2n.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)
7g.150947416G=CA1752429211KCNH2n.3897C=
c.3064C= (p.Leu1022=)
c.2044C= (p.Leu682=)
c.2764C= (p.Leu922=)
c.2914C= (p.Leu972=)
c.2887C= (p.Leu963=)
7g.150947416G>TCA369852767KCNH2n.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
7g.150947417G>ACA036406KCNH2n.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
7g.150947417G>CCA369852770KCNH2n.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)
7g.150947417G=CA1752429215KCNH2n.3896C=
c.3063C= (p.Ser1021=)
c.2043C= (p.Ser681=)
c.2763C= (p.Ser921=)
c.2913C= (p.Ser971=)
c.2886C= (p.Ser962=)
7g.150947417G>TCA369852771KCNH2n.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
7g.150947418C>ACA369852773KCNH2n.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
7g.150947418C=CA1752429220KCNH2n.3895G=
c.3062G= (p.Ser1021=)
c.2042G= (p.Ser681=)
c.2762G= (p.Ser921=)
c.2912G= (p.Ser971=)
c.2885G= (p.Ser962=)
7g.150947418C>GCA369852775KCNH2n.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
7g.150947418C>TCA369852777KCNH2n.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
7g.150947418_150947419delCA2685601932KCNH2n.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
7g.150947419T>ACA369852780KCNH2n.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)
7g.150947419T>CCA369852782KCNH2n.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
7g.150947419T>GCA369852778KCNH2n.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
7g.150947419T=CA1752429226KCNH2n.3894A=
c.3061A= (p.Ser1021=)
c.2041A= (p.Ser681=)
c.2761A= (p.Ser921=)
c.2911A= (p.Ser971=)
c.2884A= (p.Ser962=)
7g.150947419_150947420delinsTGCA1752429225KCNH2n.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=)
7g.150947425_150947430delCA2685601933KCNH2n.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
7g.150947420G>ACA458644880KCNH2n.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
7g.150947420G>CCA458644881KCNH2n.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=)
7g.150947420G=CA1752429234KCNH2n.3893C=
c.3060C= (p.Pro1020=)
c.2040C= (p.Pro680=)
c.2760C= (p.Pro920=)
c.2910C= (p.Pro970=)
c.2883C= (p.Pro961=)
7g.150947420G>TCA458644879KCNH2n.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
7g.150947424_150947425insGGGGGGGGGGCA2685601935KCNH2n.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
7g.150947424dupCA16618398KCNH2n.3893dup
c.3060dup (p.Ser1021GlnfsTer?)
c.2040dup (p.Ser681GlnfsTer?)
c.2760dup (p.Ser921GlnfsTer?)
c.2910dup (p.Ser971GlnfsTer?)
c.2883dup (p.Ser962GlnfsTer?)
ClinVar dbSNP
7g.150947424delCA349145KCNH2n.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
7g.150947421_150947430dupCA2685601934KCNH2n.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
7g.150947421G>ACA169071997KCNH2n.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
7g.150947421G>CCA369852783KCNH2n.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)
7g.150947421G=CA1752429241KCNH2n.3892C=
c.3059C= (p.Pro1020=)
c.2039C= (p.Pro680=)
c.2759C= (p.Pro920=)
c.2909C= (p.Pro970=)
c.2882C= (p.Pro961=)
7g.150947421G>TCA369852785KCNH2n.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
7g.150947422G>ACA10623452KCNH2n.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
7g.150947422G>CCA369852787KCNH2n.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
7g.150947422G=CA1752429247KCNH2n.3891C=
c.3058C= (p.Pro1020=)
c.2038C= (p.Pro680=)
c.2758C= (p.Pro920=)
c.2908C= (p.Pro970=)
c.2881C= (p.Pro961=)
7g.150947422G>TCA369852789KCNH2n.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
7g.150947423G>ACA169072004KCNH2n.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
7g.150947423G>CCA458644883KCNH2n.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=)
7g.150947423G=CA1752429250KCNH2n.3890C=
c.3057C= (p.Thr1019=)
c.2037C= (p.Thr679=)
c.2757C= (p.Thr919=)
c.2907C= (p.Thr969=)
c.2880C= (p.Thr960=)
7g.150947423G>TCA458644882KCNH2n.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
7g.150947424G>ACA369852791KCNH2n.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
7g.150947424G>CCA369852792KCNH2n.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)
7g.150947424G>TCA369852794KCNH2n.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
7g.150947425T>ACA369852796KCNH2n.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)
7g.150947425T>CCA369852798KCNH2n.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)
7g.150947425T>GCA369852799KCNH2n.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)
dbSNP gnomAD v3 gnomAD v4
7g.150947425T=CA1752429257KCNH2n.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=)
7g.150947425_150947426delinsTGCA1752429254KCNH2n.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=)
7g.150947425_150947431delinsTGGGGGCCA1752429255KCNH2n.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=)
7g.150947425_150947426insTTGTGGCGGTGGGGGGGGGGCA2685601940KCNH2n.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
7g.150947426G>ACA458644885KCNH2n.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
7g.150947426G>CCA458644886KCNH2n.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
7g.150947426G=CA1752429264KCNH2n.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=)
7g.150947426G>TCA458644887KCNH2n.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
7g.150947428_150947429insTGGGGGGGGGCA2685601939KCNH2n.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
7g.150947430_150947431insGGGGGGCA2685601945KCNH2n.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
7g.150947430_150947431insGGGGGGGCA913188232KCNH2n.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?)
gnomAD v4
7g.150947430_150947431insGGGGGGGGGGCA2685601948KCNH2n.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
7g.150947430_150947431insGGGGGGGGGGGCA2685601946KCNH2n.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
7g.150947430_150947431insGGGGGGGGGGGGGCA2685601941KCNH2n.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
7g.150947430_150947431insGGGGGGGGGGGGGGGCA2685601947KCNH2n.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
7g.150947430_150947431insGGGGGGGGGGGGGGGGCA2685601942KCNH2n.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
7g.150947430_150947431insGGGGGGGGGGGGGGGGGGCA2685601943KCNH2n.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
7g.150947430_150947431insGGGGGGGGGGGGGGGGGGGGGCA2778425795KCNH2n.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)
7g.150947430_150947431insTTGTGGTGGGGGGGGGGGGGGGGGGCA2685601938KCNH2n.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
7g.150947430_150947431insGTTTTTGGGGGGGGGGGGGGGGGGGGGCA2685601937KCNH2n.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
7g.150947430_150947431insGGGGGGTTGTGGGGGGGGGGGGGGGGGGGGGCA2685601936KCNH2n.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
7g.150947430dupCA2550808594KCNH2n.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?)
7g.150947426_150947430dupCA2685601944KCNH2n.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
7g.150947430delCA658797032KCNH2n.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
7g.150947430_150947435delCA1752429262KCNH2n.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
7g.150947427G>ACA169072005KCNH2n.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
7g.150947427G>CCA369852803KCNH2n.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)
7g.150947427G=CA1752429272KCNH2n.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=)
7g.150947427G>TCA369852801KCNH2n.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
7g.150947428G>ACA169072026KCNH2n.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)
dbSNP
7g.150947428G>CCA007858KCNH2n.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
7g.150947428G=CA1752429278KCNH2n.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=)
7g.150947428G>TCA369852806KCNH2n.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
7g.150947429G>ACA169072031KCNH2n.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
7g.150947429G>CCA458644889KCNH2n.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=)
7g.150947429G=CA1752429284KCNH2n.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=)
7g.150947429G>TCA169072038KCNH2n.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
7g.150947430G>ACA369852808KCNH2n.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
7g.150947430G>CCA369852810KCNH2n.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)
7g.150947430G=CA1752429297KCNH2n.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=)
7g.150947430G>TCA369852812KCNH2n.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
7g.150947431C>ACA169072043KCNH2n.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
7g.150947431C=CA1752429301KCNH2n.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=)
7g.150947431C>GCA369852814KCNH2n.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
7g.150947431C>TCA369852815KCNH2n.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
7g.150947431_150947441delCA2695208794KCNH2n.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?)
7g.150947432G>ACA036382KCNH2n.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
7g.150947432G>CCA458644891KCNH2n.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
7g.150947432G=CA1752429308KCNH2n.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=)
7g.150947432G>TCA458644892KCNH2n.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
7g.150947433_150947434insTGGGGGGGGGGGGGGGGGGCA2685601949KCNH2n.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
7g.150947435_150947436insGGGGGGGGGGGGGCA913188233KCNH2n.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?)
gnomAD v4
7g.150947435_150947436insGGGGGGGGGGGGGGGGCA2685601950KCNH2n.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
7g.150947432_150947444delCA2695208795KCNH2n.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?)
7g.150947433G>ACA169072044KCNH2n.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
7g.150947433G>CCA369852820KCNH2n.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)
7g.150947433G=CA1752429312KCNH2n.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=)
7g.150947433G>TCA369852818KCNH2n.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
7g.150947434G>ACA169072048KCNH2n.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
7g.150947434G>CCA369852821KCNH2n.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)
7g.150947434G=CA1752429316KCNH2n.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=)
7g.150947434G>TCA369852823KCNH2n.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
7g.150947435G>ACA458644897KCNH2n.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
7g.150947435G>CCA369852825KCNH2n.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)
7g.150947435G=CA1752429319KCNH2n.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=)
7g.150947435G>TCA369852827KCNH2n.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
7g.150947436C>ACA369852828KCNH2n.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
7g.150947436C=CA1752429321KCNH2n.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=)
7g.150947436C>GCA369852830KCNH2n.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)
7g.150947436C>TCA369852832KCNH2n.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
7g.150947437A=CA1752429324KCNH2n.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=)
7g.150947437A>CCA369852834KCNH2n.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)
7g.150947437A>GCA369852835KCNH2n.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
7g.150947437A>TCA369852836KCNH2n.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)
7g.150947438T>ACA458644899KCNH2n.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
7g.150947438T>CCA458644901KCNH2n.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=)
7g.150947438T>GCA458644903KCNH2n.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=)
7g.150947439C>ACA369852839KCNH2n.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
7g.150947439C=CA1752429326KCNH2n.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=)
7g.150947439C>GCA369852841KCNH2n.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)
7g.150947439C>TCA169072052KCNH2n.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
7g.150947440G>ACA007849KCNH2n.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
7g.150947440G>CCA369852843KCNH2n.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)
7g.150947440G=CA1752429329KCNH2n.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=)
7g.150947440G>TCA458644904KCNH2n.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=)
7g.150947441delCA2573141848KCNH2n.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
7g.150947441A=CA1752429330KCNH2n.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=)
7g.150947441A>CCA458644905KCNH2n.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=)
7g.150947441A>GCA458644906KCNH2n.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=)
dbSNP gnomAD v4
7g.150947441A>TCA458644907KCNH2n.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=)
7g.150947442G>ACA369852845KCNH2n.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
7g.150947442G>CCA369852847KCNH2n.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
7g.150947442G>TCA369852848KCNH2n.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
7g.150947444delCA2579062775KCNH2n.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?)
7g.150947443G>ACA369852850KCNH2n.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
7g.150947443G>CCA369852852KCNH2n.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
7g.150947443G>TCA369852853KCNH2n.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
7g.150947444G>ACA458644911KCNH2n.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
7g.150947444G>CCA458644912KCNH2n.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
7g.150947444G>TCA458644913KCNH2n.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
7g.150947445A>CCA369852856KCNH2n.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)
7g.150947445A>GCA369852857KCNH2n.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)
7g.150947445A>TCA369852858KCNH2n.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)
7g.150947446G>ACA369852860KCNH2n.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)
7g.150947446G>CCA369852862KCNH2n.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
7g.150947446G>TCA369852864KCNH2n.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
7g.150947447C>ACA369852865KCNH2n.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
7g.150947447C>GCA369852866KCNH2n.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)
7g.150947447C>TCA458644915KCNH2n.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=)
7g.150947448_150947449delCA2695208796KCNH2n.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?)
7g.150947448delCA2499218785KCNH2n.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
7g.150947448T>ACA369852870KCNH2n.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
7g.150947448T>CCA369852872KCNH2n.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
7g.150947448T>GCA369852869KCNH2n.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)
7g.150947448T=CA1752429332KCNH2n.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=)
7g.150947449C>ACA369852876KCNH2n.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)
7g.150947449C=CA1752429333KCNH2n.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=)
7g.150947449C>GCA369852878KCNH2n.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
7g.150947449C>TCA369852874KCNH2n.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
7g.150947450dupCA169072055KCNH2n.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
7g.150947450C>ACA369852880KCNH2n.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
7g.150947450C>GCA369852879KCNH2n.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)
7g.150947450C>TCA458644918KCNH2n.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=)
7g.150947451T>ACA369852884KCNH2n.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)
7g.150947451T>CCA369852883KCNH2n.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
7g.150947451T>GCA369852885KCNH2n.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)
7g.150947452G>ACA369852887KCNH2n.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)
7g.150947452G>CCA369852889KCNH2n.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
7g.150947452G>TCA369852890KCNH2n.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
7g.150947453G>ACA458644920KCNH2n.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=)
7g.150947453G>CCA16605072KCNH2n.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
7g.150947453G=CA1752429336KCNH2n.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=)
7g.150947453G>TCA369852892KCNH2n.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
7g.150947454T>ACA369852894KCNH2n.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)
7g.150947454T>CCA369852896KCNH2n.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
7g.150947454T>GCA369852898KCNH2n.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)
7g.150947455A>CCA369852899KCNH2n.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)
7g.150947455A>GCA369852900KCNH2n.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
7g.150947455A>TCA369852901KCNH2n.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
7g.150947456C>ACA369852902KCNH2n.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)
7g.150947456C=CA1752429339KCNH2n.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=)
7g.150947456C>GCA369852903KCNH2n.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)
7g.150947456C>TCA458644923KCNH2n.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
7g.150947457T>ACA369852904KCNH2n.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
7g.150947457T>CCA369852906KCNH2n.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
7g.150947457T>GCA369852905KCNH2n.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)
7g.150947458G>ACA369852907KCNH2n.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
7g.150947458G>CCA369852908KCNH2n.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)
7g.150947458G>TCA369852909KCNH2n.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
7g.150947459G>ACA036369KCNH2n.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
7g.150947459G>CCA458644926KCNH2n.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
7g.150947459G=CA1752429342KCNH2n.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=)
7g.150947459G>TCA458644927KCNH2n.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=)
7g.150947460C>ACA036361KCNH2n.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
7g.150947460C=CA1752429349KCNH2n.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=)
7g.150947460C>GCA369852910KCNH2n.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
7g.150947460C>TCA007832KCNH2n.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
7g.150947461G>ACA369852911KCNH2n.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
7g.150947461G>CCA369852912KCNH2n.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)
7g.150947461G=CA1752429353KCNH2n.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=)
7g.150947461G>TCA369852913KCNH2n.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
7g.150947462dupCA2695208797KCNH2n.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?)
7g.150947462delCA2579062786KCNH2n.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
7g.150947462G>ACA458644929KCNH2n.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
7g.150947462G>CCA458644930KCNH2n.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=)
7g.150947462G>TCA458644931KCNH2n.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
7g.150947462_150947463delinsGCCA1752429355KCNH2n.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=)
7g.150947463C>ACA369852915KCNH2n.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)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947463C=CA1752429359KCNH2n.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=)
7g.150947463C>GCA036327KCNH2n.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
7g.150947463C>TCA369852914KCNH2n.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)
gnomAD v4
7g.150947466delCA007808KCNH2n.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
7g.150947464C>ACA369852916KCNH2n.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
7g.150947464C>GCA369852917KCNH2n.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)
7g.150947464C>TCA369852918KCNH2n.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
7g.150947465C>ACA458644935KCNH2n.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=)
7g.150947465C=CA1752429366KCNH2n.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=)
7g.150947465C>GCA458644932KCNH2n.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=)
7g.150947465C>TCA458644933KCNH2n.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
7g.150947466C>ACA369852919KCNH2n.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
7g.150947466C=CA1752429371KCNH2n.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=)
7g.150947466C>GCA369852920KCNH2n.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)
7g.150947466C>TCA007800KCNH2n.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
7g.150947467G>ACA169072126KCNH2n.3846C>T
c.3013C>T (p.Arg1005Trp)
c.1993C>T (p.Arg665Trp)
c.2713C>T (p.Arg905Trp)
c.*93C>T (n.*93C>T)
c.2863C>T (p.Arg955Trp)
c.2836C>T (p.Arg946Trp)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947467G>CCA369852921KCNH2n.3846C>G
c.3013C>G (p.Arg1005Gly)
c.1993C>G (p.Arg665Gly)
c.2713C>G (p.Arg905Gly)
c.*93C>G (n.*93C>G)
c.2863C>G (p.Arg955Gly)
c.2836C>G (p.Arg946Gly)
gnomAD v4
7g.150947467G=CA1752429375KCNH2n.3846C=
c.3013C= (p.Arg1005=)
c.1993C= (p.Arg665=)
c.2713C= (p.Arg905=)
c.*93C= (n.*93C=)
c.2863C= (p.Arg955=)
c.2836C= (p.Arg946=)
7g.150947467G>TCA458644936KCNH2n.3846C>A
c.3013C>A (p.Arg1005=)
c.1993C>A (p.Arg665=)
c.2713C>A (p.Arg905=)
c.*93C>A (n.*93C>A)
c.2863C>A (p.Arg955=)
c.2836C>A (p.Arg946=)
gnomAD v4
7g.150947468A>CCA369852922KCNH2n.3845T>G
c.3012T>G (p.Ser1004Arg)
c.1992T>G (p.Ser664Arg)
c.2712T>G (p.Ser904Arg)
c.*92T>G (n.*92T>G)
c.2862T>G (p.Ser954Arg)
c.2835T>G (p.Ser945Arg)
7g.150947468A>GCA458644937KCNH2n.3845T>C
c.3012T>C (p.Ser1004=)
c.1992T>C (p.Ser664=)
c.2712T>C (p.Ser904=)
c.*92T>C (n.*92T>C)
c.2862T>C (p.Ser954=)
c.2835T>C (p.Ser945=)
7g.150947468A>TCA369852923KCNH2n.3845T>A
c.3012T>A (p.Ser1004Arg)
c.1992T>A (p.Ser664Arg)
c.2712T>A (p.Ser904Arg)
c.*92T>A (n.*92T>A)
c.2862T>A (p.Ser954Arg)
c.2835T>A (p.Ser945Arg)
7g.150947469C>ACA036300KCNH2n.3844G>T
c.3011G>T (p.Ser1004Ile)
c.1991G>T (p.Ser664Ile)
c.2711G>T (p.Ser904Ile)
c.*91G>T (n.*91G>T)
c.2861G>T (p.Ser954Ile)
c.2834G>T (p.Ser945Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947469C=CA1752429380KCNH2n.3844G=
c.3011G= (p.Ser1004=)
c.1991G= (p.Ser664=)
c.2711G= (p.Ser904=)
c.*91G= (n.*91G=)
c.2861G= (p.Ser954=)
c.2834G= (p.Ser945=)
7g.150947469C>GCA036284KCNH2n.3844G>C
c.3011G>C (p.Ser1004Thr)
c.1991G>C (p.Ser664Thr)
c.2711G>C (p.Ser904Thr)
c.*91G>C (n.*91G>C)
c.2861G>C (p.Ser954Thr)
c.2834G>C (p.Ser945Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947469C>TCA369852924KCNH2n.3844G>A
c.3011G>A (p.Ser1004Asn)
c.1991G>A (p.Ser664Asn)
c.2711G>A (p.Ser904Asn)
c.*91G>A (n.*91G>A)
c.2861G>A (p.Ser954Asn)
c.2834G>A (p.Ser945Asn)
7g.150947470T>ACA369852925KCNH2n.3843A>T
c.3010A>T (p.Ser1004Cys)
c.1990A>T (p.Ser664Cys)
c.2710A>T (p.Ser904Cys)
c.*90A>T (n.*90A>T)
c.2860A>T (p.Ser954Cys)
c.2833A>T (p.Ser945Cys)
7g.150947470T>CCA369852927KCNH2n.3843A>G
c.3010A>G (p.Ser1004Gly)
c.1990A>G (p.Ser664Gly)
c.2710A>G (p.Ser904Gly)
c.*90A>G (n.*90A>G)
c.2860A>G (p.Ser954Gly)
c.2833A>G (p.Ser945Gly)
7g.150947470T>GCA369852926KCNH2n.3843A>C
c.3010A>C (p.Ser1004Arg)
c.1990A>C (p.Ser664Arg)
c.2710A>C (p.Ser904Arg)
c.*90A>C (n.*90A>C)
c.2860A>C (p.Ser954Arg)
c.2833A>C (p.Ser945Arg)
7g.150947471G>ACA458644939KCNH2n.3842C>T
c.3009C>T (p.Asp1003=)
c.1989C>T (p.Asp663=)
c.2709C>T (p.Asp903=)
c.*89C>T (n.*89C>T)
c.2859C>T (p.Asp953=)
c.2832C>T (p.Asp944=)
ClinVar dbSNP gnomAD v4
7g.150947471G>CCA369852928KCNH2n.3842C>G
c.3009C>G (p.Asp1003Glu)
c.1989C>G (p.Asp663Glu)
c.2709C>G (p.Asp903Glu)
c.*89C>G (n.*89C>G)
c.2859C>G (p.Asp953Glu)
c.2832C>G (p.Asp944Glu)
7g.150947471G=CA1752429383KCNH2n.3842C=
c.3009C= (p.Asp1003=)
c.1989C= (p.Asp663=)
c.2709C= (p.Asp903=)
c.*89C= (n.*89C=)
c.2859C= (p.Asp953=)
c.2832C= (p.Asp944=)
7g.150947471G>TCA369852929KCNH2n.3842C>A
c.3009C>A (p.Asp1003Glu)
c.1989C>A (p.Asp663Glu)
c.2709C>A (p.Asp903Glu)
c.*89C>A (n.*89C>A)
c.2859C>A (p.Asp953Glu)
c.2832C>A (p.Asp944Glu)
gnomAD v4
7g.150947472T>ACA369852930KCNH2n.3841A>T
c.3008A>T (p.Asp1003Val)
c.1988A>T (p.Asp663Val)
c.2708A>T (p.Asp903Val)
c.*88A>T (n.*88A>T)
c.2858A>T (p.Asp953Val)
c.2831A>T (p.Asp944Val)
gnomAD v4
7g.150947472T>CCA369852931KCNH2n.3841A>G
c.3008A>G (p.Asp1003Gly)
c.1988A>G (p.Asp663Gly)
c.2708A>G (p.Asp903Gly)
c.*88A>G (n.*88A>G)
c.2858A>G (p.Asp953Gly)
c.2831A>G (p.Asp944Gly)
gnomAD v4
7g.150947472T>GCA369852932KCNH2n.3841A>C
c.3008A>C (p.Asp1003Ala)
c.1988A>C (p.Asp663Ala)
c.2708A>C (p.Asp903Ala)
c.*88A>C (n.*88A>C)
c.2858A>C (p.Asp953Ala)
c.2831A>C (p.Asp944Ala)
7g.150947472_150947473delinsTCCA1752429388KCNH2n.3840_3841delinsGA
c.3007_3008delinsGA (p.Asp1003=)
c.1987_1988delinsGA (p.Asp663=)
c.2707_2708delinsGA (p.Asp903=)
c.*87_*88delinsGA (n.*87_*88delinsGA)
c.2857_2858delinsGA (p.Asp953=)
c.2830_2831delinsGA (p.Asp944=)
7g.150947473C>ACA007791KCNH2n.3840G>T
c.3007G>T (p.Asp1003Tyr)
c.1987G>T (p.Asp663Tyr)
c.2707G>T (p.Asp903Tyr)
c.*87G>T (n.*87G>T)
c.2857G>T (p.Asp953Tyr)
c.2830G>T (p.Asp944Tyr)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947473C=CA1752429398KCNH2n.3840G=
c.3007G= (p.Asp1003=)
c.1987G= (p.Asp663=)
c.2707G= (p.Asp903=)
c.*87G= (n.*87G=)
c.2857G= (p.Asp953=)
c.2830G= (p.Asp944=)
7g.150947473C>GCA369852933KCNH2n.3840G>C
c.3007G>C (p.Asp1003His)
c.1987G>C (p.Asp663His)
c.2707G>C (p.Asp903His)
c.*87G>C (n.*87G>C)
c.2857G>C (p.Asp953His)
c.2830G>C (p.Asp944His)
dbSNP gnomAD v2 gnomAD v4
7g.150947473C>TCA16042691KCNH2n.3840G>A
c.3007G>A (p.Asp1003Asn)
c.1987G>A (p.Asp663Asn)
c.2707G>A (p.Asp903Asn)
c.*87G>A (n.*87G>A)
c.2857G>A (p.Asp953Asn)
c.2830G>A (p.Asp944Asn)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947478dupCA916080376KCNH2n.3840dup
c.3007dup (p.Asp1003GlyfsTer?)
c.1987dup (p.Asp663GlyfsTer?)
c.2707dup (p.Asp903GlyfsTer?)
c.*87dup (n.*87dup)
c.2857dup (p.Asp953GlyfsTer?)
c.2830dup (p.Asp944GlyfsTer?)
ClinVar dbSNP gnomAD v4
7g.150947478delCA645565631KCNH2n.3840del
c.3007del (p.Asp1003ThrfsTer?)
c.1987del (p.Asp663ThrfsTer?)
c.2707del (p.Asp903ThrfsTer?)
c.*87del (n.*87del)
c.2857del (p.Asp953ThrfsTer?)
c.2830del (p.Asp944ThrfsTer?)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
7g.150947474C>ACA458644940KCNH2n.3839G>T
c.3006G>T (p.Gly1002=)
c.1986G>T (p.Gly662=)
c.2706G>T (p.Gly902=)
c.*86G>T (n.*86G>T)
c.2856G>T (p.Gly952=)
c.2829G>T (p.Gly943=)
ClinVar dbSNP gnomAD v4
7g.150947474C=CA1752429405KCNH2n.3839G=
c.3006G= (p.Gly1002=)
c.1986G= (p.Gly662=)
c.2706G= (p.Gly902=)
c.*86G= (n.*86G=)
c.2856G= (p.Gly952=)
c.2829G= (p.Gly943=)
7g.150947474C>GCA458644941KCNH2n.3839G>C
c.3006G>C (p.Gly1002=)
c.1986G>C (p.Gly662=)
c.2706G>C (p.Gly902=)
c.*86G>C (n.*86G>C)
c.2856G>C (p.Gly952=)
c.2829G>C (p.Gly943=)
7g.150947474C>TCA458644942KCNH2n.3839G>A
c.3006G>A (p.Gly1002=)
c.1986G>A (p.Gly662=)
c.2706G>A (p.Gly902=)
c.*86G>A (n.*86G>A)
c.2856G>A (p.Gly952=)
c.2829G>A (p.Gly943=)
dbSNP gnomAD v2 gnomAD v4
7g.150947475C>ACA369852934KCNH2n.3838G>T
c.3005G>T (p.Gly1002Val)
c.1985G>T (p.Gly662Val)
c.2705G>T (p.Gly902Val)
c.*85G>T (n.*85G>T)
c.2855G>T (p.Gly952Val)
c.2828G>T (p.Gly943Val)
gnomAD v4
7g.150947475C=CA1752429410KCNH2n.3838G=
c.3005G= (p.Gly1002=)
c.1985G= (p.Gly662=)
c.2705G= (p.Gly902=)
c.*85G= (n.*85G=)
c.2855G= (p.Gly952=)
c.2828G= (p.Gly943=)
7g.150947475C>GCA369852935KCNH2n.3838G>C
c.3005G>C (p.Gly1002Ala)
c.1985G>C (p.Gly662Ala)
c.2705G>C (p.Gly902Ala)
c.*85G>C (n.*85G>C)
c.2855G>C (p.Gly952Ala)
c.2828G>C (p.Gly943Ala)
7g.150947475C>TCA369852936KCNH2n.3838G>A
c.3005G>A (p.Gly1002Glu)
c.1985G>A (p.Gly662Glu)
c.2705G>A (p.Gly902Glu)
c.*85G>A (n.*85G>A)
c.2855G>A (p.Gly952Glu)
c.2828G>A (p.Gly943Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947476C>ACA369852939KCNH2n.3837G>T
c.3004G>T (p.Gly1002Trp)
c.1984G>T (p.Gly662Trp)
c.2704G>T (p.Gly902Trp)
c.*84G>T (n.*84G>T)
c.2854G>T (p.Gly952Trp)
c.2827G>T (p.Gly943Trp)
gnomAD v4
7g.150947476C=CA1752429412KCNH2n.3837G=
c.3004G= (p.Gly1002=)
c.1984G= (p.Gly662=)
c.2704G= (p.Gly902=)
c.*84G= (n.*84G=)
c.2854G= (p.Gly952=)
c.2827G= (p.Gly943=)
7g.150947476C>GCA369852938KCNH2n.3837G>C
c.3004G>C (p.Gly1002Arg)
c.1984G>C (p.Gly662Arg)
c.2704G>C (p.Gly902Arg)
c.*84G>C (n.*84G>C)
c.2854G>C (p.Gly952Arg)
c.2827G>C (p.Gly943Arg)
gnomAD v4
7g.150947476C>TCA369852937KCNH2n.3837G>A
c.3004G>A (p.Gly1002Arg)
c.1984G>A (p.Gly662Arg)
c.2704G>A (p.Gly902Arg)
c.*84G>A (n.*84G>A)
c.2854G>A (p.Gly952Arg)
c.2827G>A (p.Gly943Arg)
dbSNP gnomAD v4
7g.150947477C>ACA369852940KCNH2n.3836G>T
c.3003G>T (p.Trp1001Cys)
c.1983G>T (p.Trp661Cys)
c.2703G>T (p.Trp901Cys)
c.*83G>T (n.*83G>T)
c.2853G>T (p.Trp951Cys)
c.2826G>T (p.Trp942Cys)
ClinVar gnomAD v4
7g.150947477C=CA1752429416KCNH2n.3836G=
c.3003G= (p.Trp1001=)
c.1983G= (p.Trp661=)
c.2703G= (p.Trp901=)
c.*83G= (n.*83G=)
c.2853G= (p.Trp951=)
c.2826G= (p.Trp942=)
7g.150947477C>GCA369852941KCNH2n.3836G>C
c.3003G>C (p.Trp1001Cys)
c.1983G>C (p.Trp661Cys)
c.2703G>C (p.Trp901Cys)
c.*83G>C (n.*83G>C)
c.2853G>C (p.Trp951Cys)
c.2826G>C (p.Trp942Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947477C>TCA007783KCNH2n.3836G>A
c.3003G>A (p.Trp1001Ter)
c.1983G>A (p.Trp661Ter)
c.2703G>A (p.Trp901Ter)
c.*83G>A (n.*83G>A)
c.2853G>A (p.Trp951Ter)
c.2826G>A (p.Trp942Ter)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947478C>ACA369852942KCNH2n.3835G>T
c.3002G>T (p.Trp1001Leu)
c.1982G>T (p.Trp661Leu)
c.2702G>T (p.Trp901Leu)
c.*82G>T (n.*82G>T)
c.2852G>T (p.Trp951Leu)
c.2825G>T (p.Trp942Leu)
dbSNP gnomAD v4
7g.150947478C=CA1752429427KCNH2n.3835G=
c.3002G= (p.Trp1001=)
c.1982G= (p.Trp661=)
c.2702G= (p.Trp901=)
c.*82G= (n.*82G=)
c.2852G= (p.Trp951=)
c.2825G= (p.Trp942=)
7g.150947478C>GCA369852943KCNH2n.3835G>C
c.3002G>C (p.Trp1001Ser)
c.1982G>C (p.Trp661Ser)
c.2702G>C (p.Trp901Ser)
c.*82G>C (n.*82G>C)
c.2852G>C (p.Trp951Ser)
c.2825G>C (p.Trp942Ser)
dbSNP gnomAD v3 gnomAD v4
7g.150947478C>TCA007773KCNH2n.3835G>A
c.3002G>A (p.Trp1001Ter)
c.1982G>A (p.Trp661Ter)
c.2702G>A (p.Trp901Ter)
c.*82G>A (n.*82G>A)
c.2852G>A (p.Trp951Ter)
c.2825G>A (p.Trp942Ter)
ClinVar dbSNP gnomAD v4
7g.150947479A>CCA369852944KCNH2n.3834T>G
c.3001T>G (p.Trp1001Gly)
c.1981T>G (p.Trp661Gly)
c.2701T>G (p.Trp901Gly)
c.*81T>G (n.*81T>G)
c.2851T>G (p.Trp951Gly)
c.2824T>G (p.Trp942Gly)
gnomAD v4
7g.150947479A>GCA369852945KCNH2n.3834T>C
c.3001T>C (p.Trp1001Arg)
c.1981T>C (p.Trp661Arg)
c.2701T>C (p.Trp901Arg)
c.*81T>C (n.*81T>C)
c.2851T>C (p.Trp951Arg)
c.2824T>C (p.Trp942Arg)
gnomAD v4
7g.150947479A>TCA369852946KCNH2n.3834T>A
c.3001T>A (p.Trp1001Arg)
c.1981T>A (p.Trp661Arg)
c.2701T>A (p.Trp901Arg)
c.*81T>A (n.*81T>A)
c.2851T>A (p.Trp951Arg)
c.2824T>A (p.Trp942Arg)
gnomAD v4
7g.150947479dupCA2695208798KCNH2n.3834dup
c.3001dup (p.Trp1001LeufsTer?)
c.1981dup (p.Trp661LeufsTer?)
c.2701dup (p.Trp901LeufsTer?)
c.*81dup (n.*81dup)
c.2851dup (p.Trp951LeufsTer?)
c.2824dup (p.Trp942LeufsTer?)
7g.150947480G>ACA458644946KCNH2n.3833C>T
c.3000C>T (p.Phe1000=)
c.1980C>T (p.Phe660=)
c.2700C>T (p.Phe900=)
c.*80C>T (n.*80C>T)
c.2850C>T (p.Phe950=)
c.2823C>T (p.Phe941=)
7g.150947480G>CCA369852947KCNH2n.3833C>G
c.3000C>G (p.Phe1000Leu)
c.1980C>G (p.Phe660Leu)
c.2700C>G (p.Phe900Leu)
c.*80C>G (n.*80C>G)
c.2850C>G (p.Phe950Leu)
c.2823C>G (p.Phe941Leu)
7g.150947480G>TCA369852948KCNH2n.3833C>A
c.3000C>A (p.Phe1000Leu)
c.1980C>A (p.Phe660Leu)
c.2700C>A (p.Phe900Leu)
c.*80C>A (n.*80C>A)
c.2850C>A (p.Phe950Leu)
c.2823C>A (p.Phe941Leu)
gnomAD v4
7g.150947481A>CCA369852949KCNH2n.3832T>G
c.2999T>G (p.Phe1000Cys)
c.1979T>G (p.Phe660Cys)
c.2699T>G (p.Phe900Cys)
c.*79T>G (n.*79T>G)
c.2849T>G (p.Phe950Cys)
c.2822T>G (p.Phe941Cys)
7g.150947481A>GCA369852950KCNH2n.3832T>C
c.2999T>C (p.Phe1000Ser)
c.1979T>C (p.Phe660Ser)
c.2699T>C (p.Phe900Ser)
c.*79T>C (n.*79T>C)
c.2849T>C (p.Phe950Ser)
c.2822T>C (p.Phe941Ser)
7g.150947481A>TCA369852951KCNH2n.3832T>A
c.2999T>A (p.Phe1000Tyr)
c.1979T>A (p.Phe660Tyr)
c.2699T>A (p.Phe900Tyr)
c.*79T>A (n.*79T>A)
c.2849T>A (p.Phe950Tyr)
c.2822T>A (p.Phe941Tyr)
7g.150947482A>CCA369852954KCNH2n.3831T>G
c.2998T>G (p.Phe1000Val)
c.1978T>G (p.Phe660Val)
c.2698T>G (p.Phe900Val)
c.*78T>G (n.*78T>G)
c.2848T>G (p.Phe950Val)
c.2821T>G (p.Phe941Val)
7g.150947482A>GCA369852953KCNH2n.3831T>C
c.2998T>C (p.Phe1000Leu)
c.1978T>C (p.Phe660Leu)
c.2698T>C (p.Phe900Leu)
c.*78T>C (n.*78T>C)
c.2848T>C (p.Phe950Leu)
c.2821T>C (p.Phe941Leu)
7g.150947482A>TCA369852952KCNH2n.3831T>A
c.2998T>A (p.Phe1000Ile)
c.1978T>A (p.Phe660Ile)
c.2698T>A (p.Phe900Ile)
c.*78T>A (n.*78T>A)
c.2848T>A (p.Phe950Ile)
c.2821T>A (p.Phe941Ile)

Number of alleles fetched