Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.150946814_150947018delCA2697557661KCNH2n.4027_4163+68del
c.3194_3330+68del
c.2174_2310+68del
c.2894_3030+68del
c.3044_3180+68del
c.3017_3153+68del
 ClinVar
7g.150946903_150946928delinsTGGGGAGGGGGCTGACGGGCAACAGCCA1752427363KCNH2n.4112_4137delinsGCTGTTGCCCGTCAGCCCCCTCCCCA
c.3279_3304delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro1093=)
c.2259_2284delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro753=)
c.2979_3004delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro993=)
c.3129_3154delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro1043=)
c.3102_3127delinsGCTGTTGCCCGTCAGCCCCCTCCCCA (p.Pro1034=)
7g.150946909_150946933delCA658656007KCNH2n.4112_4136del
c.3279_3303del (p.Leu1094ProfsTer?)
c.2259_2283del (p.Leu754ProfsTer?)
c.2979_3003del (p.Leu994ProfsTer?)
c.3129_3153del (p.Leu1044ProfsTer?)
c.3102_3126del (p.Leu1035ProfsTer?)
 ClinVar dbSNP
7g.150946915_150946922delCA2695208689KCNH2n.4122_4129del
c.3289_3296del (p.Val1097ProfsTer19)
c.2269_2276del (p.Val757ProfsTer19)
c.2989_2996del (p.Val997ProfsTer19)
c.3139_3146del (p.Val1047ProfsTer19)
c.3112_3119del (p.Val1038ProfsTer19)
7g.150946915T>ACA369851997KCNH2n.4125A>T
c.3292A>T (p.Ser1098Cys)
c.2272A>T (p.Ser758Cys)
c.2992A>T (p.Ser998Cys)
c.3142A>T (p.Ser1048Cys)
c.3115A>T (p.Ser1039Cys)
7g.150946915T>CCA369851998KCNH2n.4125A>G
c.3292A>G (p.Ser1098Gly)
c.2272A>G (p.Ser758Gly)
c.2992A>G (p.Ser998Gly)
c.3142A>G (p.Ser1048Gly)
c.3115A>G (p.Ser1039Gly)
 gnomAD v4
7g.150946915T>GCA369852000KCNH2n.4125A>C
c.3292A>C (p.Ser1098Arg)
c.2272A>C (p.Ser758Arg)
c.2992A>C (p.Ser998Arg)
c.3142A>C (p.Ser1048Arg)
c.3115A>C (p.Ser1039Arg)
 ClinVar dbSNP
7g.150946915T=CA1752427430KCNH2n.4125A=
c.3292A= (p.Ser1098=)
c.2272A= (p.Ser758=)
c.2992A= (p.Ser998=)
c.3142A= (p.Ser1048=)
c.3115A= (p.Ser1039=)
7g.150946916G>ACA458644664KCNH2n.4124C>T
c.3291C>T (p.Val1097=)
c.2271C>T (p.Val757=)
c.2991C>T (p.Val997=)
c.3141C>T (p.Val1047=)
c.3114C>T (p.Val1038=)
 gnomAD v4
7g.150946916G>CCA458644665KCNH2n.4124C>G
c.3291C>G (p.Val1097=)
c.2271C>G (p.Val757=)
c.2991C>G (p.Val997=)
c.3141C>G (p.Val1047=)
c.3114C>G (p.Val1038=)
7g.150946916G=CA1752427435KCNH2n.4124C=
c.3291C= (p.Val1097=)
c.2271C= (p.Val757=)
c.2991C= (p.Val997=)
c.3141C= (p.Val1047=)
c.3114C= (p.Val1038=)
7g.150946916G>TCA458644666KCNH2n.4124C>A
c.3291C>A (p.Val1097=)
c.2271C>A (p.Val757=)
c.2991C>A (p.Val997=)
c.3141C>A (p.Val1047=)
c.3114C>A (p.Val1038=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150946917A=CA1752427438KCNH2n.4123T=
c.3290T= (p.Val1097=)
c.2270T= (p.Val757=)
c.2990T= (p.Val997=)
c.3140T= (p.Val1047=)
c.3113T= (p.Val1038=)
7g.150946917A>CCA369852002KCNH2n.4123T>G
c.3290T>G (p.Val1097Gly)
c.2270T>G (p.Val757Gly)
c.2990T>G (p.Val997Gly)
c.3140T>G (p.Val1047Gly)
c.3113T>G (p.Val1038Gly)
7g.150946917A>GCA369852005KCNH2n.4123T>C
c.3290T>C (p.Val1097Ala)
c.2270T>C (p.Val757Ala)
c.2990T>C (p.Val997Ala)
c.3140T>C (p.Val1047Ala)
c.3113T>C (p.Val1038Ala)
 dbSNP gnomAD v2 gnomAD v4
7g.150946917A>TCA369852004KCNH2n.4123T>A
c.3290T>A (p.Val1097Asp)
c.2270T>A (p.Val757Asp)
c.2990T>A (p.Val997Asp)
c.3140T>A (p.Val1047Asp)
c.3113T>A (p.Val1038Asp)
7g.150946917_150946918delCA2685600624KCNH2n.4122_4123del
c.3289_3290del (p.Val1097GlnfsTer21)
c.2269_2270del (p.Val757GlnfsTer21)
c.2989_2990del (p.Val997GlnfsTer21)
c.3139_3140del (p.Val1047GlnfsTer21)
c.3112_3113del (p.Val1038GlnfsTer21)
 gnomAD v4
7g.150946918C>ACA369852006KCNH2n.4122G>T
c.3289G>T (p.Val1097Phe)
c.2269G>T (p.Val757Phe)
c.2989G>T (p.Val997Phe)
c.3139G>T (p.Val1047Phe)
c.3112G>T (p.Val1038Phe)
 gnomAD v4
7g.150946918C=CA1752427444KCNH2n.4122G=
c.3289G= (p.Val1097=)
c.2269G= (p.Val757=)
c.2989G= (p.Val997=)
c.3139G= (p.Val1047=)
c.3112G= (p.Val1038=)
7g.150946918C>GCA369852007KCNH2n.4122G>C
c.3289G>C (p.Val1097Leu)
c.2269G>C (p.Val757Leu)
c.2989G>C (p.Val997Leu)
c.3139G>C (p.Val1047Leu)
c.3112G>C (p.Val1038Leu)
7g.150946918C>TCA008165KCNH2n.4122G>A
c.3289G>A (p.Val1097Ile)
c.2269G>A (p.Val757Ile)
c.2989G>A (p.Val997Ile)
c.3139G>A (p.Val1047Ile)
c.3112G>A (p.Val1038Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150946919G>ACA038260KCNH2n.4121C>T
c.3288C>T (p.Pro1096=)
c.2268C>T (p.Pro756=)
c.2988C>T (p.Pro996=)
c.3138C>T (p.Pro1046=)
c.3111C>T (p.Pro1037=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150946919G>CCA458644668KCNH2n.4121C>G
c.3288C>G (p.Pro1096=)
c.2268C>G (p.Pro756=)
c.2988C>G (p.Pro996=)
c.3138C>G (p.Pro1046=)
c.3111C>G (p.Pro1037=)
7g.150946919G=CA1752427450KCNH2n.4121C=
c.3288C= (p.Pro1096=)
c.2268C= (p.Pro756=)
c.2988C= (p.Pro996=)
c.3138C= (p.Pro1046=)
c.3111C= (p.Pro1037=)
7g.150946919G>TCA458644667KCNH2n.4121C>A
c.3288C>A (p.Pro1096=)
c.2268C>A (p.Pro756=)
c.2988C>A (p.Pro996=)
c.3138C>A (p.Pro1046=)
c.3111C>A (p.Pro1037=)
7g.150946920_150946935dupCA2580077682KCNH2n.4106_4121dup
c.3273_3288dup (p.Val1097IlefsTer27)
c.2253_2268dup (p.Val757IlefsTer27)
c.2973_2988dup (p.Val997IlefsTer27)
c.3123_3138dup (p.Val1047IlefsTer27)
c.3096_3111dup (p.Val1038IlefsTer27)
 ClinVar
7g.150946920G>ACA369852010KCNH2n.4120C>T
c.3287C>T (p.Pro1096Leu)
c.2267C>T (p.Pro756Leu)
c.2987C>T (p.Pro996Leu)
c.3137C>T (p.Pro1046Leu)
c.3110C>T (p.Pro1037Leu)
 gnomAD v4
7g.150946920G>CCA369852012KCNH2n.4120C>G
c.3287C>G (p.Pro1096Arg)
c.2267C>G (p.Pro756Arg)
c.2987C>G (p.Pro996Arg)
c.3137C>G (p.Pro1046Arg)
c.3110C>G (p.Pro1037Arg)
7g.150946920G>TCA369852013KCNH2n.4120C>A
c.3287C>A (p.Pro1096His)
c.2267C>A (p.Pro756His)
c.2987C>A (p.Pro996His)
c.3137C>A (p.Pro1046His)
c.3110C>A (p.Pro1037His)
7g.150946921G>ACA369852015KCNH2n.4119C>T
c.3286C>T (p.Pro1096Ser)
c.2266C>T (p.Pro756Ser)
c.2986C>T (p.Pro996Ser)
c.3136C>T (p.Pro1046Ser)
c.3109C>T (p.Pro1037Ser)
 ClinVar dbSNP gnomAD v4
7g.150946921G>CCA369852016KCNH2n.4119C>G
c.3286C>G (p.Pro1096Ala)
c.2266C>G (p.Pro756Ala)
c.2986C>G (p.Pro996Ala)
c.3136C>G (p.Pro1046Ala)
c.3109C>G (p.Pro1037Ala)
7g.150946921G=CA1752427456KCNH2n.4119C=
c.3286C= (p.Pro1096=)
c.2266C= (p.Pro756=)
c.2986C= (p.Pro996=)
c.3136C= (p.Pro1046=)
c.3109C= (p.Pro1037=)
7g.150946921G>TCA369852018KCNH2n.4119C>A
c.3286C>A (p.Pro1096Thr)
c.2266C>A (p.Pro756Thr)
c.2986C>A (p.Pro996Thr)
c.3136C>A (p.Pro1046Thr)
c.3109C>A (p.Pro1037Thr)
 ClinVar dbSNP gnomAD v4
7g.150946922C>ACA369852020KCNH2n.4118G>T
c.3285G>T (p.Leu1095Phe)
c.2265G>T (p.Leu755Phe)
c.2985G>T (p.Leu995Phe)
c.3135G>T (p.Leu1045Phe)
c.3108G>T (p.Leu1036Phe)
 gnomAD v4
7g.150946922C=CA1752427462KCNH2n.4118G=
c.3285G= (p.Leu1095=)
c.2265G= (p.Leu755=)
c.2985G= (p.Leu995=)
c.3135G= (p.Leu1045=)
c.3108G= (p.Leu1036=)
7g.150946922C>GCA369852021KCNH2n.4118G>C
c.3285G>C (p.Leu1095Phe)
c.2265G>C (p.Leu755Phe)
c.2985G>C (p.Leu995Phe)
c.3135G>C (p.Leu1045Phe)
c.3108G>C (p.Leu1036Phe)
7g.150946922C>TCA458644672KCNH2n.4118G>A
c.3285G>A (p.Leu1095=)
c.2265G>A (p.Leu755=)
c.2985G>A (p.Leu995=)
c.3135G>A (p.Leu1045=)
c.3108G>A (p.Leu1036=)
 dbSNP gnomAD v2 gnomAD v4
7g.150946923A>CCA369852026KCNH2n.4117T>G
c.3284T>G (p.Leu1095Trp)
c.2264T>G (p.Leu755Trp)
c.2984T>G (p.Leu995Trp)
c.3134T>G (p.Leu1045Trp)
c.3107T>G (p.Leu1036Trp)
7g.150946923A>GCA369852025KCNH2n.4117T>C
c.3284T>C (p.Leu1095Ser)
c.2264T>C (p.Leu755Ser)
c.2984T>C (p.Leu995Ser)
c.3134T>C (p.Leu1045Ser)
c.3107T>C (p.Leu1036Ser)
7g.150946923A>TCA369852023KCNH2n.4117T>A
c.3284T>A (p.Leu1095Ter)
c.2264T>A (p.Leu755Ter)
c.2984T>A (p.Leu995Ter)
c.3134T>A (p.Leu1045Ter)
c.3107T>A (p.Leu1036Ter)
7g.150946924A>CCA369852029KCNH2n.4116T>G
c.3283T>G (p.Leu1095Val)
c.2263T>G (p.Leu755Val)
c.2983T>G (p.Leu995Val)
c.3133T>G (p.Leu1045Val)
c.3106T>G (p.Leu1036Val)
7g.150946924A>GCA458644673KCNH2n.4116T>C
c.3283T>C (p.Leu1095=)
c.2263T>C (p.Leu755=)
c.2983T>C (p.Leu995=)
c.3133T>C (p.Leu1045=)
c.3106T>C (p.Leu1036=)
7g.150946924A>TCA369852028KCNH2n.4116T>A
c.3283T>A (p.Leu1095Met)
c.2263T>A (p.Leu755Met)
c.2983T>A (p.Leu995Met)
c.3133T>A (p.Leu1045Met)
c.3106T>A (p.Leu1036Met)
7g.150946925C>ACA458644674KCNH2n.4115G>T
c.3282G>T (p.Leu1094=)
c.2262G>T (p.Leu754=)
c.2982G>T (p.Leu994=)
c.3132G>T (p.Leu1044=)
c.3105G>T (p.Leu1035=)
 gnomAD v4
7g.150946925C>GCA458644676KCNH2n.4115G>C
c.3282G>C (p.Leu1094=)
c.2262G>C (p.Leu754=)
c.2982G>C (p.Leu994=)
c.3132G>C (p.Leu1044=)
c.3105G>C (p.Leu1035=)
 ClinVar dbSNP
7g.150946925C>TCA458644675KCNH2n.4115G>A
c.3282G>A (p.Leu1094=)
c.2262G>A (p.Leu754=)
c.2982G>A (p.Leu994=)
c.3132G>A (p.Leu1044=)
c.3105G>A (p.Leu1035=)
7g.150946926A>CCA369852033KCNH2n.4114T>G
c.3281T>G (p.Leu1094Arg)
c.2261T>G (p.Leu754Arg)
c.2981T>G (p.Leu994Arg)
c.3131T>G (p.Leu1044Arg)
c.3104T>G (p.Leu1035Arg)
7g.150946926A>GCA369852031KCNH2n.4114T>C
c.3281T>C (p.Leu1094Pro)
c.2261T>C (p.Leu754Pro)
c.2981T>C (p.Leu994Pro)
c.3131T>C (p.Leu1044Pro)
c.3104T>C (p.Leu1035Pro)
7g.150946926A>TCA369852034KCNH2n.4114T>A
c.3281T>A (p.Leu1094Gln)
c.2261T>A (p.Leu754Gln)
c.2981T>A (p.Leu994Gln)
c.3131T>A (p.Leu1044Gln)
c.3104T>A (p.Leu1035Gln)
7g.150946926dupCA2739279284KCNH2n.4114dup
c.3281dup (p.Leu1095ValfsTer24)
c.2261dup (p.Leu755ValfsTer24)
c.2981dup (p.Leu995ValfsTer24)
c.3131dup (p.Leu1045ValfsTer24)
c.3104dup (p.Leu1036ValfsTer24)
 ClinVar

Number of alleles fetched