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.150947335G>ACA369852494KCNH2n.3978C>T
c.3145C>T (p.Leu1049Phe)
c.2125C>T (p.Leu709Phe)
c.2845C>T (p.Leu949Phe)
c.2995C>T (p.Leu999Phe)
c.2968C>T (p.Leu990Phe)
 gnomAD v4
7g.150947335G>CCA369852491KCNH2n.3978C>G
c.3145C>G (p.Leu1049Val)
c.2125C>G (p.Leu709Val)
c.2845C>G (p.Leu949Val)
c.2995C>G (p.Leu999Val)
c.2968C>G (p.Leu990Val)
7g.150947335G>TCA369852493KCNH2n.3978C>A
c.3145C>A (p.Leu1049Ile)
c.2125C>A (p.Leu709Ile)
c.2845C>A (p.Leu949Ile)
c.2995C>A (p.Leu999Ile)
c.2968C>A (p.Leu990Ile)
 gnomAD v4
7g.150947336C>ACA369852496KCNH2n.3977G>T
c.3144G>T (p.Gln1048His)
c.2124G>T (p.Gln708His)
c.2844G>T (p.Gln948His)
c.2994G>T (p.Gln998His)
c.2967G>T (p.Gln989His)
 gnomAD v4
7g.150947336C=CA1752428381KCNH2n.3977G=
c.3144G= (p.Gln1048=)
c.2124G= (p.Gln708=)
c.2844G= (p.Gln948=)
c.2994G= (p.Gln998=)
c.2967G= (p.Gln989=)
7g.150947336C>GCA369852498KCNH2n.3977G>C
c.3144G>C (p.Gln1048His)
c.2124G>C (p.Gln708His)
c.2844G>C (p.Gln948His)
c.2994G>C (p.Gln998His)
c.2967G>C (p.Gln989His)
7g.150947336C>TCA458644792KCNH2n.3977G>A
c.3144G>A (p.Gln1048=)
c.2124G>A (p.Gln708=)
c.2844G>A (p.Gln948=)
c.2994G>A (p.Gln998=)
c.2967G>A (p.Gln989=)
 dbSNP gnomAD v2
7g.150947337T>ACA369852500KCNH2n.3976A>T
c.3143A>T (p.Gln1048Leu)
c.2123A>T (p.Gln708Leu)
c.2843A>T (p.Gln948Leu)
c.2993A>T (p.Gln998Leu)
c.2966A>T (p.Gln989Leu)
7g.150947337T>CCA369852501KCNH2n.3976A>G
c.3143A>G (p.Gln1048Arg)
c.2123A>G (p.Gln708Arg)
c.2843A>G (p.Gln948Arg)
c.2993A>G (p.Gln998Arg)
c.2966A>G (p.Gln989Arg)
 gnomAD v4
7g.150947337T>GCA369852503KCNH2n.3976A>C
c.3143A>C (p.Gln1048Pro)
c.2123A>C (p.Gln708Pro)
c.2843A>C (p.Gln948Pro)
c.2993A>C (p.Gln998Pro)
c.2966A>C (p.Gln989Pro)
 gnomAD v4
7g.150947338G>ACA369852505KCNH2n.3975C>T
c.3142C>T (p.Gln1048Ter)
c.2122C>T (p.Gln708Ter)
c.2842C>T (p.Gln948Ter)
c.2992C>T (p.Gln998Ter)
c.2965C>T (p.Gln989Ter)
 gnomAD v4
7g.150947338G>CCA369852508KCNH2n.3975C>G
c.3142C>G (p.Gln1048Glu)
c.2122C>G (p.Gln708Glu)
c.2842C>G (p.Gln948Glu)
c.2992C>G (p.Gln998Glu)
c.2965C>G (p.Gln989Glu)
 gnomAD v4
7g.150947338G>TCA369852506KCNH2n.3975C>A
c.3142C>A (p.Gln1048Lys)
c.2122C>A (p.Gln708Lys)
c.2842C>A (p.Gln948Lys)
c.2992C>A (p.Gln998Lys)
c.2965C>A (p.Gln989Lys)
 gnomAD v4
7g.150947339G>ACA458644794KCNH2n.3974C>T
c.3141C>T (p.Arg1047=)
c.2121C>T (p.Arg707=)
c.2841C>T (p.Arg947=)
c.2991C>T (p.Arg997=)
c.2964C>T (p.Arg988=)
 dbSNP
7g.150947339G>CCA458644795KCNH2n.3974C>G
c.3141C>G (p.Arg1047=)
c.2121C>G (p.Arg707=)
c.2841C>G (p.Arg947=)
c.2991C>G (p.Arg997=)
c.2964C>G (p.Arg988=)
7g.150947339G=CA1752428383KCNH2n.3974C=
c.3141C= (p.Arg1047=)
c.2121C= (p.Arg707=)
c.2841C= (p.Arg947=)
c.2991C= (p.Arg997=)
c.2964C= (p.Arg988=)
7g.150947339G>TCA458644796KCNH2n.3974C>A
c.3141C>A (p.Arg1047=)
c.2121C>A (p.Arg707=)
c.2841C>A (p.Arg947=)
c.2991C>A (p.Arg997=)
c.2964C>A (p.Arg988=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947340delCA2778425741KCNH2n.3973del
c.3140del (p.Arg1047ProfsTer10)
c.2120del (p.Arg707ProfsTer10)
c.2840del (p.Arg947ProfsTer10)
c.2990del (p.Arg997ProfsTer10)
c.2963del (p.Arg988ProfsTer10)
7g.150947340C>ACA008041KCNH2n.3973G>T
c.3140G>T (p.Arg1047Leu)
c.2120G>T (p.Arg707Leu)
c.2840G>T (p.Arg947Leu)
c.2990G>T (p.Arg997Leu)
c.2963G>T (p.Arg988Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947340C=CA1752428387KCNH2n.3973G=
c.3140G= (p.Arg1047=)
c.2120G= (p.Arg707=)
c.2840G= (p.Arg947=)
c.2990G= (p.Arg997=)
c.2963G= (p.Arg988=)
7g.150947340C>GCA369852510KCNH2n.3973G>C
c.3140G>C (p.Arg1047Pro)
c.2120G>C (p.Arg707Pro)
c.2840G>C (p.Arg947Pro)
c.2990G>C (p.Arg997Pro)
c.2963G>C (p.Arg988Pro)
7g.150947340C>TCA369852511KCNH2n.3973G>A
c.3140G>A (p.Arg1047His)
c.2120G>A (p.Arg707His)
c.2840G>A (p.Arg947His)
c.2990G>A (p.Arg997His)
c.2963G>A (p.Arg988His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947341G>ACA008033KCNH2n.3972C>T
c.3139C>T (p.Arg1047Cys)
c.2119C>T (p.Arg707Cys)
c.2839C>T (p.Arg947Cys)
c.2989C>T (p.Arg997Cys)
c.2962C>T (p.Arg988Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947341G>CCA369852513KCNH2n.3972C>G
c.3139C>G (p.Arg1047Gly)
c.2119C>G (p.Arg707Gly)
c.2839C>G (p.Arg947Gly)
c.2989C>G (p.Arg997Gly)
c.2962C>G (p.Arg988Gly)
7g.150947341G=CA1752428404KCNH2n.3972C=
c.3139C= (p.Arg1047=)
c.2119C= (p.Arg707=)
c.2839C= (p.Arg947=)
c.2989C= (p.Arg997=)
c.2962C= (p.Arg988=)
7g.150947341G>TCA369852514KCNH2n.3972C>A
c.3139C>A (p.Arg1047Ser)
c.2119C>A (p.Arg707Ser)
c.2839C>A (p.Arg947Ser)
c.2989C>A (p.Arg997Ser)
c.2962C>A (p.Arg988Ser)
 gnomAD v4
7g.150947342C>ACA369852516KCNH2n.3971G>T
c.3138G>T (p.Gln1046His)
c.2118G>T (p.Gln706His)
c.2838G>T (p.Gln946His)
c.2988G>T (p.Gln996His)
c.2961G>T (p.Gln987His)
 ClinVar dbSNP gnomAD v4
7g.150947342C=CA1752428407KCNH2n.3971G=
c.3138G= (p.Gln1046=)
c.2118G= (p.Gln706=)
c.2838G= (p.Gln946=)
c.2988G= (p.Gln996=)
c.2961G= (p.Gln987=)
7g.150947342C>GCA369852517KCNH2n.3971G>C
c.3138G>C (p.Gln1046His)
c.2118G>C (p.Gln706His)
c.2838G>C (p.Gln946His)
c.2988G>C (p.Gln996His)
c.2961G>C (p.Gln987His)
7g.150947342C>TCA458644797KCNH2n.3971G>A
c.3138G>A (p.Gln1046=)
c.2118G>A (p.Gln706=)
c.2838G>A (p.Gln946=)
c.2988G>A (p.Gln996=)
c.2961G>A (p.Gln987=)
 dbSNP gnomAD v2 gnomAD v4
7g.150947343T>ACA369852519KCNH2n.3970A>T
c.3137A>T (p.Gln1046Leu)
c.2117A>T (p.Gln706Leu)
c.2837A>T (p.Gln946Leu)
c.2987A>T (p.Gln996Leu)
c.2960A>T (p.Gln987Leu)
 gnomAD v4
7g.150947343T>CCA369852521KCNH2n.3970A>G
c.3137A>G (p.Gln1046Arg)
c.2117A>G (p.Gln706Arg)
c.2837A>G (p.Gln946Arg)
c.2987A>G (p.Gln996Arg)
c.2960A>G (p.Gln987Arg)
 ClinVar dbSNP
7g.150947343T>GCA369852522KCNH2n.3970A>C
c.3137A>C (p.Gln1046Pro)
c.2117A>C (p.Gln706Pro)
c.2837A>C (p.Gln946Pro)
c.2987A>C (p.Gln996Pro)
c.2960A>C (p.Gln987Pro)
7g.150947343T=CA1752428420KCNH2n.3970A=
c.3137A= (p.Gln1046=)
c.2117A= (p.Gln706=)
c.2837A= (p.Gln946=)
c.2987A= (p.Gln996=)
c.2960A= (p.Gln987=)
7g.150947343_150947344delinsTGCA1752428417KCNH2n.3969_3970delinsCA
c.3136_3137delinsCA (p.Gln1046=)
c.2116_2117delinsCA (p.Gln706=)
c.2836_2837delinsCA (p.Gln946=)
c.2986_2987delinsCA (p.Gln996=)
c.2959_2960delinsCA (p.Gln987=)
7g.150947343_150947347delinsTGGAGCA1752428418KCNH2n.3966_3970delinsCTCCA
c.3133_3137delinsCTCCA (p.Leu1045=)
c.2113_2117delinsCTCCA (p.Leu705=)
c.2833_2837delinsCTCCA (p.Leu945=)
c.2983_2987delinsCTCCA (p.Leu995=)
c.2956_2960delinsCTCCA (p.Leu986=)
7g.150947344G>ACA369852526KCNH2n.3969C>T
c.3136C>T (p.Gln1046Ter)
c.2116C>T (p.Gln706Ter)
c.2836C>T (p.Gln946Ter)
c.2986C>T (p.Gln996Ter)
c.2959C>T (p.Gln987Ter)
 ClinVar gnomAD v4
7g.150947344G>CCA369852523KCNH2n.3969C>G
c.3136C>G (p.Gln1046Glu)
c.2116C>G (p.Gln706Glu)
c.2836C>G (p.Gln946Glu)
c.2986C>G (p.Gln996Glu)
c.2959C>G (p.Gln987Glu)
 gnomAD v4
7g.150947344G>TCA369852524KCNH2n.3969C>A
c.3136C>A (p.Gln1046Lys)
c.2116C>A (p.Gln706Lys)
c.2836C>A (p.Gln946Lys)
c.2986C>A (p.Gln996Lys)
c.2959C>A (p.Gln987Lys)
 gnomAD v4
7g.150947345delCA008026KCNH2n.3969del
c.3136del (p.Gln1046SerfsTer11)
c.2116del (p.Gln706SerfsTer11)
c.2836del (p.Gln946SerfsTer11)
c.2986del (p.Gln996SerfsTer11)
c.2959del (p.Gln987SerfsTer11)
 ClinVar dbSNP
7g.150947346_150947349delCA915945566KCNH2n.3966_3969del
c.3133_3136del (p.Leu1045SerfsTer11)
c.2113_2116del (p.Leu705SerfsTer11)
c.2833_2836del (p.Leu945SerfsTer11)
c.2983_2986del (p.Leu995SerfsTer11)
c.2956_2959del (p.Leu986SerfsTer11)
 ClinVar dbSNP
7g.150947345G>ACA458644801KCNH2n.3968C>T
c.3135C>T (p.Leu1045=)
c.2115C>T (p.Leu705=)
c.2835C>T (p.Leu945=)
c.2985C>T (p.Leu995=)
c.2958C>T (p.Leu986=)
7g.150947345G>CCA458644802KCNH2n.3968C>G
c.3135C>G (p.Leu1045=)
c.2115C>G (p.Leu705=)
c.2835C>G (p.Leu945=)
c.2985C>G (p.Leu995=)
c.2958C>G (p.Leu986=)
 gnomAD v4
7g.150947345G>TCA458644803KCNH2n.3968C>A
c.3135C>A (p.Leu1045=)
c.2115C>A (p.Leu705=)
c.2835C>A (p.Leu945=)
c.2985C>A (p.Leu995=)
c.2958C>A (p.Leu986=)
 gnomAD v4
7g.150947346A=CA1752428433KCNH2n.3967T=
c.3134T= (p.Leu1045=)
c.2114T= (p.Leu705=)
c.2834T= (p.Leu945=)
c.2984T= (p.Leu995=)
c.2957T= (p.Leu986=)
7g.150947346A>CCA369852529KCNH2n.3967T>G
c.3134T>G (p.Leu1045Arg)
c.2114T>G (p.Leu705Arg)
c.2834T>G (p.Leu945Arg)
c.2984T>G (p.Leu995Arg)
c.2957T>G (p.Leu986Arg)
 ClinVar dbSNP
7g.150947346A>GCA369852528KCNH2n.3967T>C
c.3134T>C (p.Leu1045Pro)
c.2114T>C (p.Leu705Pro)
c.2834T>C (p.Leu945Pro)
c.2984T>C (p.Leu995Pro)
c.2957T>C (p.Leu986Pro)
 gnomAD v4
7g.150947346A>TCA369852531KCNH2n.3967T>A
c.3134T>A (p.Leu1045His)
c.2114T>A (p.Leu705His)
c.2834T>A (p.Leu945His)
c.2984T>A (p.Leu995His)
c.2957T>A (p.Leu986His)
 gnomAD v4
7g.150947347G>ACA008015KCNH2n.3966C>T
c.3133C>T (p.Leu1045Phe)
c.2113C>T (p.Leu705Phe)
c.2833C>T (p.Leu945Phe)
c.2983C>T (p.Leu995Phe)
c.2956C>T (p.Leu986Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947347G>CCA369852535KCNH2n.3966C>G
c.3133C>G (p.Leu1045Val)
c.2113C>G (p.Leu705Val)
c.2833C>G (p.Leu945Val)
c.2983C>G (p.Leu995Val)
c.2956C>G (p.Leu986Val)
7g.150947347G=CA1752428439KCNH2n.3966C=
c.3133C= (p.Leu1045=)
c.2113C= (p.Leu705=)
c.2833C= (p.Leu945=)
c.2983C= (p.Leu995=)
c.2956C= (p.Leu986=)
7g.150947347G>TCA369852534KCNH2n.3966C>A
c.3133C>A (p.Leu1045Ile)
c.2113C>A (p.Leu705Ile)
c.2833C>A (p.Leu945Ile)
c.2983C>A (p.Leu995Ile)
c.2956C>A (p.Leu986Ile)
 ClinVar dbSNP gnomAD v4
7g.150947349delCA2685601787KCNH2n.3966del
c.3133del (p.Leu1045SerfsTer12)
c.2113del (p.Leu705SerfsTer12)
c.2833del (p.Leu945SerfsTer12)
c.2983del (p.Leu995SerfsTer12)
c.2956del (p.Leu986SerfsTer12)
 gnomAD v4
7g.150947348G>ACA169071780KCNH2n.3965C>T
c.3132C>T (p.Ala1044=)
c.2112C>T (p.Ala704=)
c.2832C>T (p.Ala944=)
c.2982C>T (p.Ala994=)
c.2955C>T (p.Ala985=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947348G>CCA458644805KCNH2n.3965C>G
c.3132C>G (p.Ala1044=)
c.2112C>G (p.Ala704=)
c.2832C>G (p.Ala944=)
c.2982C>G (p.Ala994=)
c.2955C>G (p.Ala985=)
7g.150947348G=CA1752428445KCNH2n.3965C=
c.3132C= (p.Ala1044=)
c.2112C= (p.Ala704=)
c.2832C= (p.Ala944=)
c.2982C= (p.Ala994=)
c.2955C= (p.Ala985=)
7g.150947348G>TCA458644806KCNH2n.3965C>A
c.3132C>A (p.Ala1044=)
c.2112C>A (p.Ala704=)
c.2832C>A (p.Ala944=)
c.2982C>A (p.Ala994=)
c.2955C>A (p.Ala985=)
 gnomAD v4
7g.150947349G>ACA369852538KCNH2n.3964C>T
c.3131C>T (p.Ala1044Val)
c.2111C>T (p.Ala704Val)
c.2831C>T (p.Ala944Val)
c.2981C>T (p.Ala994Val)
c.2954C>T (p.Ala985Val)
 ClinVar gnomAD v4 COSMIC COSMIC
7g.150947349G>CCA369852540KCNH2n.3964C>G
c.3131C>G (p.Ala1044Gly)
c.2111C>G (p.Ala704Gly)
c.2831C>G (p.Ala944Gly)
c.2981C>G (p.Ala994Gly)
c.2954C>G (p.Ala985Gly)
7g.150947349G>TCA369852541KCNH2n.3964C>A
c.3131C>A (p.Ala1044Asp)
c.2111C>A (p.Ala704Asp)
c.2831C>A (p.Ala944Asp)
c.2981C>A (p.Ala994Asp)
c.2954C>A (p.Ala985Asp)
 gnomAD v4
7g.150947350C>ACA369852543KCNH2n.3963G>T
c.3130G>T (p.Ala1044Ser)
c.2110G>T (p.Ala704Ser)
c.2830G>T (p.Ala944Ser)
c.2980G>T (p.Ala994Ser)
c.2953G>T (p.Ala985Ser)
7g.150947350C>GCA369852544KCNH2n.3963G>C
c.3130G>C (p.Ala1044Pro)
c.2110G>C (p.Ala704Pro)
c.2830G>C (p.Ala944Pro)
c.2980G>C (p.Ala994Pro)
c.2953G>C (p.Ala985Pro)
7g.150947350C>TCA369852546KCNH2n.3963G>A
c.3130G>A (p.Ala1044Thr)
c.2110G>A (p.Ala704Thr)
c.2830G>A (p.Ala944Thr)
c.2980G>A (p.Ala994Thr)
c.2953G>A (p.Ala985Thr)
 gnomAD v4
7g.150947350_150947368delinsCATCCAGCCTGCTCTCCACCA1752428447KCNH2n.3945_3963delinsGTGGAGAGCAGGCTGGATG
c.3112_3130delinsGTGGAGAGCAGGCTGGATG (p.Val1038=)
c.2092_2110delinsGTGGAGAGCAGGCTGGATG (p.Val698=)
c.2812_2830delinsGTGGAGAGCAGGCTGGATG (p.Val938=)
c.2962_2980delinsGTGGAGAGCAGGCTGGATG (p.Val988=)
c.2935_2953delinsGTGGAGAGCAGGCTGGATG (p.Val979=)
7g.150947351A>CCA369852548KCNH2n.3962T>G
c.3129T>G (p.Asp1043Glu)
c.2109T>G (p.Asp703Glu)
c.2829T>G (p.Asp943Glu)
c.2979T>G (p.Asp993Glu)
c.2952T>G (p.Asp984Glu)
7g.150947351A>GCA458644807KCNH2n.3962T>C
c.3129T>C (p.Asp1043=)
c.2109T>C (p.Asp703=)
c.2829T>C (p.Asp943=)
c.2979T>C (p.Asp993=)
c.2952T>C (p.Asp984=)
 ClinVar dbSNP gnomAD v4
7g.150947351A>TCA369852550KCNH2n.3962T>A
c.3129T>A (p.Asp1043Glu)
c.2109T>A (p.Asp703Glu)
c.2829T>A (p.Asp943Glu)
c.2979T>A (p.Asp993Glu)
c.2952T>A (p.Asp984Glu)
7g.150947351_150947368delinsTGCA007983KCNH2n.3945_3962delinsCA
c.3112_3129delinsCA (p.Val1038GlnfsTer14)
c.2092_2109delinsCA (p.Val698GlnfsTer14)
c.2812_2829delinsCA (p.Val938GlnfsTer14)
c.2962_2979delinsCA (p.Val988GlnfsTer14)
c.2935_2952delinsCA (p.Val979GlnfsTer14)
 ClinVar dbSNP
7g.150947352T>ACA169071795KCNH2n.3961A>T
c.3128A>T (p.Asp1043Val)
c.2108A>T (p.Asp703Val)
c.2828A>T (p.Asp943Val)
c.2978A>T (p.Asp993Val)
c.2951A>T (p.Asp984Val)
 dbSNP gnomAD v4
7g.150947352T>CCA369852553KCNH2n.3961A>G
c.3128A>G (p.Asp1043Gly)
c.2108A>G (p.Asp703Gly)
c.2828A>G (p.Asp943Gly)
c.2978A>G (p.Asp993Gly)
c.2951A>G (p.Asp984Gly)
 dbSNP gnomAD v2 gnomAD v4
7g.150947352T>GCA369852555KCNH2n.3961A>C
c.3128A>C (p.Asp1043Ala)
c.2108A>C (p.Asp703Ala)
c.2828A>C (p.Asp943Ala)
c.2978A>C (p.Asp993Ala)
c.2951A>C (p.Asp984Ala)
 gnomAD v4
7g.150947352T=CA1752428456KCNH2n.3961A=
c.3128A= (p.Asp1043=)
c.2108A= (p.Asp703=)
c.2828A= (p.Asp943=)
c.2978A= (p.Asp993=)
c.2951A= (p.Asp984=)
7g.150947352_150947373delinsTCCAGCCTGCTCTCCACGTCGCCA1752428458KCNH2n.3940_3961delinsGCGACGTGGAGAGCAGGCTGGA
c.3107_3128delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly1036=)
c.2087_2108delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly696=)
c.2807_2828delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly936=)
c.2957_2978delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly986=)
c.2930_2951delinsGCGACGTGGAGAGCAGGCTGGA (p.Gly977=)
7g.150947353C>ACA369852560KCNH2n.3960G>T
c.3127G>T (p.Asp1043Tyr)
c.2107G>T (p.Asp703Tyr)
c.2827G>T (p.Asp943Tyr)
c.2977G>T (p.Asp993Tyr)
c.2950G>T (p.Asp984Tyr)
 gnomAD v4
7g.150947353C>GCA369852556KCNH2n.3960G>C
c.3127G>C (p.Asp1043His)
c.2107G>C (p.Asp703His)
c.2827G>C (p.Asp943His)
c.2977G>C (p.Asp993His)
c.2950G>C (p.Asp984His)
7g.150947353C>TCA369852558KCNH2n.3960G>A
c.3127G>A (p.Asp1043Asn)
c.2107G>A (p.Asp703Asn)
c.2827G>A (p.Asp943Asn)
c.2977G>A (p.Asp993Asn)
c.2950G>A (p.Asp984Asn)
 gnomAD v4 COSMIC COSMIC
7g.150947355_150947375delCA16612102KCNH2n.3940_3960del
c.3107_3127del (p.Gly1036_Leu1042del)
c.2087_2107del (p.Gly696_Leu702del)
c.2807_2827del (p.Gly936_Leu942del)
c.2957_2977del (p.Gly986_Leu992del)
c.2930_2950del (p.Gly977_Leu983del)
 ClinVar dbSNP
7g.150947354C>ACA458644808KCNH2n.3959G>T
c.3126G>T (p.Leu1042=)
c.2106G>T (p.Leu702=)
c.2826G>T (p.Leu942=)
c.2976G>T (p.Leu992=)
c.2949G>T (p.Leu983=)
 gnomAD v4
7g.150947354C>GCA458644809KCNH2n.3959G>C
c.3126G>C (p.Leu1042=)
c.2106G>C (p.Leu702=)
c.2826G>C (p.Leu942=)
c.2976G>C (p.Leu992=)
c.2949G>C (p.Leu983=)
7g.150947354C>TCA458644811KCNH2n.3959G>A
c.3126G>A (p.Leu1042=)
c.2106G>A (p.Leu702=)
c.2826G>A (p.Leu942=)
c.2976G>A (p.Leu992=)
c.2949G>A (p.Leu983=)
 ClinVar gnomAD v4
7g.150947355A=CA1752428469KCNH2n.3958T=
c.3125T= (p.Leu1042=)
c.2105T= (p.Leu702=)
c.2825T= (p.Leu942=)
c.2975T= (p.Leu992=)
c.2948T= (p.Leu983=)
7g.150947355A>CCA369852561KCNH2n.3958T>G
c.3125T>G (p.Leu1042Arg)
c.2105T>G (p.Leu702Arg)
c.2825T>G (p.Leu942Arg)
c.2975T>G (p.Leu992Arg)
c.2948T>G (p.Leu983Arg)
7g.150947355A>GCA10587639KCNH2n.3958T>C
c.3125T>C (p.Leu1042Pro)
c.2105T>C (p.Leu702Pro)
c.2825T>C (p.Leu942Pro)
c.2975T>C (p.Leu992Pro)
c.2948T>C (p.Leu983Pro)
 ClinVar dbSNP
7g.150947355A>TCA369852563KCNH2n.3958T>A
c.3125T>A (p.Leu1042Gln)
c.2105T>A (p.Leu702Gln)
c.2825T>A (p.Leu942Gln)
c.2975T>A (p.Leu992Gln)
c.2948T>A (p.Leu983Gln)
7g.150947355_150947377delCA2695208777KCNH2n.3936_3958del
c.3103_3125del (p.Arg1035GlyfsTer?)
c.2083_2105del (p.Arg695GlyfsTer?)
c.2803_2825del (p.Arg935GlyfsTer?)
c.2953_2975del (p.Arg985GlyfsTer?)
c.2926_2948del (p.Arg976GlyfsTer?)
7g.150947356G>ACA458644812KCNH2n.3957C>T
c.3124C>T (p.Leu1042=)
c.2104C>T (p.Leu702=)
c.2824C>T (p.Leu942=)
c.2974C>T (p.Leu992=)
c.2947C>T (p.Leu983=)
 dbSNP gnomAD v2 gnomAD v4
7g.150947356G>CCA369852565KCNH2n.3957C>G
c.3124C>G (p.Leu1042Val)
c.2104C>G (p.Leu702Val)
c.2824C>G (p.Leu942Val)
c.2974C>G (p.Leu992Val)
c.2947C>G (p.Leu983Val)
 ClinVar dbSNP
7g.150947356G=CA1752428475KCNH2n.3957C=
c.3124C= (p.Leu1042=)
c.2104C= (p.Leu702=)
c.2824C= (p.Leu942=)
c.2974C= (p.Leu992=)
c.2947C= (p.Leu983=)
7g.150947356G>TCA369852567KCNH2n.3957C>A
c.3124C>A (p.Leu1042Met)
c.2104C>A (p.Leu702Met)
c.2824C>A (p.Leu942Met)
c.2974C>A (p.Leu992Met)
c.2947C>A (p.Leu983Met)
 gnomAD v4
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.150947357C>ACA369852569KCNH2n.3956G>T
c.3123G>T (p.Arg1041Ser)
c.2103G>T (p.Arg701Ser)
c.2823G>T (p.Arg941Ser)
c.2973G>T (p.Arg991Ser)
c.2946G>T (p.Arg982Ser)
 gnomAD v4
7g.150947357C=CA1752428480KCNH2n.3956G=
c.3123G= (p.Arg1041=)
c.2103G= (p.Arg701=)
c.2823G= (p.Arg941=)
c.2973G= (p.Arg991=)
c.2946G= (p.Arg982=)
7g.150947357C>GCA369852570KCNH2n.3956G>C
c.3123G>C (p.Arg1041Ser)
c.2103G>C (p.Arg701Ser)
c.2823G>C (p.Arg941Ser)
c.2973G>C (p.Arg991Ser)
c.2946G>C (p.Arg982Ser)
 dbSNP
7g.150947357C>TCA458644814KCNH2n.3956G>A
c.3123G>A (p.Arg1041=)
c.2103G>A (p.Arg701=)
c.2823G>A (p.Arg941=)
c.2973G>A (p.Arg991=)
c.2946G>A (p.Arg982=)
 gnomAD v4
7g.150947358C>ACA369852571KCNH2n.3955G>T
c.3122G>T (p.Arg1041Met)
c.2102G>T (p.Arg701Met)
c.2822G>T (p.Arg941Met)
c.2972G>T (p.Arg991Met)
c.2945G>T (p.Arg982Met)
7g.150947358C>GCA369852573KCNH2n.3955G>C
c.3122G>C (p.Arg1041Thr)
c.2102G>C (p.Arg701Thr)
c.2822G>C (p.Arg941Thr)
c.2972G>C (p.Arg991Thr)
c.2945G>C (p.Arg982Thr)
 gnomAD v4
7g.150947358C>TCA369852575KCNH2n.3955G>A
c.3122G>A (p.Arg1041Lys)
c.2102G>A (p.Arg701Lys)
c.2822G>A (p.Arg941Lys)
c.2972G>A (p.Arg991Lys)
c.2945G>A (p.Arg982Lys)
 ClinVar dbSNP
7g.150947358_150947377delinsTGGACA2695208779KCNH2n.3936_3955delinsTCCA
c.3103_3122delinsTCCA (p.Arg1035SerfsTer17)
c.2083_2102delinsTCCA (p.Arg695SerfsTer17)
c.2803_2822delinsTCCA (p.Arg935SerfsTer17)
c.2953_2972delinsTCCA (p.Arg985SerfsTer17)
c.2926_2945delinsTCCA (p.Arg976SerfsTer17)
7g.150947359T>ACA369852577KCNH2n.3954A>T
c.3121A>T (p.Arg1041Trp)
c.2101A>T (p.Arg701Trp)
c.2821A>T (p.Arg941Trp)
c.2971A>T (p.Arg991Trp)
c.2944A>T (p.Arg982Trp)
7g.150947359T>CCA369852578KCNH2n.3954A>G
c.3121A>G (p.Arg1041Gly)
c.2101A>G (p.Arg701Gly)
c.2821A>G (p.Arg941Gly)
c.2971A>G (p.Arg991Gly)
c.2944A>G (p.Arg982Gly)
7g.150947359T>GCA458644815KCNH2n.3954A>C
c.3121A>C (p.Arg1041=)
c.2101A>C (p.Arg701=)
c.2821A>C (p.Arg941=)
c.2971A>C (p.Arg991=)
c.2944A>C (p.Arg982=)
 gnomAD v4
7g.150947360G>ACA037147KCNH2n.3953C>T
c.3120C>T (p.Ser1040=)
c.2100C>T (p.Ser700=)
c.2820C>T (p.Ser940=)
c.2970C>T (p.Ser990=)
c.2943C>T (p.Ser981=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947360G>CCA369852581KCNH2n.3953C>G
c.3120C>G (p.Ser1040Arg)
c.2100C>G (p.Ser700Arg)
c.2820C>G (p.Ser940Arg)
c.2970C>G (p.Ser990Arg)
c.2943C>G (p.Ser981Arg)
7g.150947360G=CA1752428484KCNH2n.3953C=
c.3120C= (p.Ser1040=)
c.2100C= (p.Ser700=)
c.2820C= (p.Ser940=)
c.2970C= (p.Ser990=)
c.2943C= (p.Ser981=)
7g.150947360G>TCA369852579KCNH2n.3953C>A
c.3120C>A (p.Ser1040Arg)
c.2100C>A (p.Ser700Arg)
c.2820C>A (p.Ser940Arg)
c.2970C>A (p.Ser990Arg)
c.2943C>A (p.Ser981Arg)
 gnomAD v4
7g.150947360_150947377delinsCCGCCGACCCCA2580614279KCNH2n.3936_3953delinsGGGTCGGCGG
c.3103_3120delinsGGGTCGGCGG (p.Arg1035GlyfsTer?)
c.2083_2100delinsGGGTCGGCGG (p.Arg695GlyfsTer?)
c.2803_2820delinsGGGTCGGCGG (p.Arg935GlyfsTer?)
c.2953_2970delinsGGGTCGGCGG (p.Arg985GlyfsTer?)
c.2926_2943delinsGGGTCGGCGG (p.Arg976GlyfsTer?)
 ClinVar
7g.150947361C>ACA369852582KCNH2n.3952G>T
c.3119G>T (p.Ser1040Ile)
c.2099G>T (p.Ser700Ile)
c.2819G>T (p.Ser940Ile)
c.2969G>T (p.Ser990Ile)
c.2942G>T (p.Ser981Ile)
 gnomAD v4
7g.150947361C=CA1752428488KCNH2n.3952G=
c.3119G= (p.Ser1040=)
c.2099G= (p.Ser700=)
c.2819G= (p.Ser940=)
c.2969G= (p.Ser990=)
c.2942G= (p.Ser981=)
7g.150947361C>GCA369852583KCNH2n.3952G>C
c.3119G>C (p.Ser1040Thr)
c.2099G>C (p.Ser700Thr)
c.2819G>C (p.Ser940Thr)
c.2969G>C (p.Ser990Thr)
c.2942G>C (p.Ser981Thr)
7g.150947361C>TCA008007KCNH2n.3952G>A
c.3119G>A (p.Ser1040Asn)
c.2099G>A (p.Ser700Asn)
c.2819G>A (p.Ser940Asn)
c.2969G>A (p.Ser990Asn)
c.2942G>A (p.Ser981Asn)
 ClinVar dbSNP
7g.150947362T>ACA369852585KCNH2n.3951A>T
c.3118A>T (p.Ser1040Cys)
c.2098A>T (p.Ser700Cys)
c.2818A>T (p.Ser940Cys)
c.2968A>T (p.Ser990Cys)
c.2941A>T (p.Ser981Cys)
7g.150947362T>CCA008000KCNH2n.3951A>G
c.3118A>G (p.Ser1040Gly)
c.2098A>G (p.Ser700Gly)
c.2818A>G (p.Ser940Gly)
c.2968A>G (p.Ser990Gly)
c.2941A>G (p.Ser981Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947362T>GCA369852586KCNH2n.3951A>C
c.3118A>C (p.Ser1040Arg)
c.2098A>C (p.Ser700Arg)
c.2818A>C (p.Ser940Arg)
c.2968A>C (p.Ser990Arg)
c.2941A>C (p.Ser981Arg)
7g.150947362T=CA1752428493KCNH2n.3951A=
c.3118A= (p.Ser1040=)
c.2098A= (p.Ser700=)
c.2818A= (p.Ser940=)
c.2968A= (p.Ser990=)
c.2941A= (p.Ser981=)
7g.150947363C>ACA369852588KCNH2n.3950G>T
c.3117G>T (p.Glu1039Asp)
c.2097G>T (p.Glu699Asp)
c.2817G>T (p.Glu939Asp)
c.2967G>T (p.Glu989Asp)
c.2940G>T (p.Glu980Asp)
 gnomAD v4
7g.150947363C>GCA369852590KCNH2n.3950G>C
c.3117G>C (p.Glu1039Asp)
c.2097G>C (p.Glu699Asp)
c.2817G>C (p.Glu939Asp)
c.2967G>C (p.Glu989Asp)
c.2940G>C (p.Glu980Asp)
7g.150947363C>TCA458644819KCNH2n.3950G>A
c.3117G>A (p.Glu1039=)
c.2097G>A (p.Glu699=)
c.2817G>A (p.Glu939=)
c.2967G>A (p.Glu989=)
c.2940G>A (p.Glu980=)
 gnomAD v4
7g.150947364T>ACA369852592KCNH2n.3949A>T
c.3116A>T (p.Glu1039Val)
c.2096A>T (p.Glu699Val)
c.2816A>T (p.Glu939Val)
c.2966A>T (p.Glu989Val)
c.2939A>T (p.Glu980Val)
7g.150947364T>CCA369852593KCNH2n.3949A>G
c.3116A>G (p.Glu1039Gly)
c.2096A>G (p.Glu699Gly)
c.2816A>G (p.Glu939Gly)
c.2966A>G (p.Glu989Gly)
c.2939A>G (p.Glu980Gly)
 gnomAD v4
7g.150947364T>GCA369852594KCNH2n.3949A>C
c.3116A>C (p.Glu1039Ala)
c.2096A>C (p.Glu699Ala)
c.2816A>C (p.Glu939Ala)
c.2966A>C (p.Glu989Ala)
c.2939A>C (p.Glu980Ala)
7g.150947365C>ACA369852599KCNH2n.3948G>T
c.3115G>T (p.Glu1039Ter)
c.2095G>T (p.Glu699Ter)
c.2815G>T (p.Glu939Ter)
c.2965G>T (p.Glu989Ter)
c.2938G>T (p.Glu980Ter)
 gnomAD v4
7g.150947365C=CA1752428497KCNH2n.3948G=
c.3115G= (p.Glu1039=)
c.2095G= (p.Glu699=)
c.2815G= (p.Glu939=)
c.2965G= (p.Glu989=)
c.2938G= (p.Glu980=)
7g.150947365C>GCA369852595KCNH2n.3948G>C
c.3115G>C (p.Glu1039Gln)
c.2095G>C (p.Glu699Gln)
c.2815G>C (p.Glu939Gln)
c.2965G>C (p.Glu989Gln)
c.2938G>C (p.Glu980Gln)
 gnomAD v4
7g.150947365C>TCA369852597KCNH2n.3948G>A
c.3115G>A (p.Glu1039Lys)
c.2095G>A (p.Glu699Lys)
c.2815G>A (p.Glu939Lys)
c.2965G>A (p.Glu989Lys)
c.2938G>A (p.Glu980Lys)
 dbSNP gnomAD v2 gnomAD v4
7g.150947366C>ACA458644820KCNH2n.3947G>T
c.3114G>T (p.Val1038=)
c.2094G>T (p.Val698=)
c.2814G>T (p.Val938=)
c.2964G>T (p.Val988=)
c.2937G>T (p.Val979=)
 gnomAD v4
7g.150947366C>GCA458644821KCNH2n.3947G>C
c.3114G>C (p.Val1038=)
c.2094G>C (p.Val698=)
c.2814G>C (p.Val938=)
c.2964G>C (p.Val988=)
c.2937G>C (p.Val979=)
7g.150947366C>TCA458644822KCNH2n.3947G>A
c.3114G>A (p.Val1038=)
c.2094G>A (p.Val698=)
c.2814G>A (p.Val938=)
c.2964G>A (p.Val988=)
c.2937G>A (p.Val979=)
 ClinVar
7g.150947367A=CA1752428506KCNH2n.3946T=
c.3113T= (p.Val1038=)
c.2093T= (p.Val698=)
c.2813T= (p.Val938=)
c.2963T= (p.Val988=)
c.2936T= (p.Val979=)
7g.150947367A>CCA369852600KCNH2n.3946T>G
c.3113T>G (p.Val1038Gly)
c.2093T>G (p.Val698Gly)
c.2813T>G (p.Val938Gly)
c.2963T>G (p.Val988Gly)
c.2936T>G (p.Val979Gly)
7g.150947367A>GCA369852601KCNH2n.3946T>C
c.3113T>C (p.Val1038Ala)
c.2093T>C (p.Val698Ala)
c.2813T>C (p.Val938Ala)
c.2963T>C (p.Val988Ala)
c.2936T>C (p.Val979Ala)
 gnomAD v4
7g.150947367A>TCA369852603KCNH2n.3946T>A
c.3113T>A (p.Val1038Glu)
c.2093T>A (p.Val698Glu)
c.2813T>A (p.Val938Glu)
c.2963T>A (p.Val988Glu)
c.2936T>A (p.Val979Glu)
 gnomAD v4
7g.150947367delinsCCGGGGCCGCCGACCCA2695208781KCNH2n.3946delinsGGTCGGCGGCCCCGG
c.3113delinsGGTCGGCGGCCCCGG (p.Val1038GlyfsTer24)
c.2093delinsGGTCGGCGGCCCCGG (p.Val698GlyfsTer24)
c.2813delinsGGTCGGCGGCCCCGG (p.Val938GlyfsTer24)
c.2963delinsGGTCGGCGGCCCCGG (p.Val988GlyfsTer24)
c.2936delinsGGTCGGCGGCCCCGG (p.Val979GlyfsTer24)
7g.150947367_150947381delinsACGTCGCCCCGGGGCCA1752428508KCNH2n.3932_3946delinsGCCCCGGGGCGACGT
c.3099_3113delinsGCCCCGGGGCGACGT (p.Arg1033=)
c.2079_2093delinsGCCCCGGGGCGACGT (p.Arg693=)
c.2799_2813delinsGCCCCGGGGCGACGT (p.Arg933=)
c.2949_2963delinsGCCCCGGGGCGACGT (p.Arg983=)
c.2922_2936delinsGCCCCGGGGCGACGT (p.Arg974=)
7g.150947369_150947388delCA2695208780KCNH2n.3927_3946del
c.3094_3113del (p.Arg1032GlyfsTer?)
c.2074_2093del (p.Arg692GlyfsTer?)
c.2794_2813del (p.Arg932GlyfsTer?)
c.2944_2963del (p.Arg982GlyfsTer?)
c.2917_2936del (p.Arg973GlyfsTer?)
7g.150947368C>ACA037127KCNH2n.3945G>T
c.3112G>T (p.Val1038Leu)
c.2092G>T (p.Val698Leu)
c.2812G>T (p.Val938Leu)
c.2962G>T (p.Val988Leu)
c.2935G>T (p.Val979Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947368C=CA1752428537KCNH2n.3945G=
c.3112G= (p.Val1038=)
c.2092G= (p.Val698=)
c.2812G= (p.Val938=)
c.2962G= (p.Val988=)
c.2935G= (p.Val979=)
7g.150947368C>GCA369852608KCNH2n.3945G>C
c.3112G>C (p.Val1038Leu)
c.2092G>C (p.Val698Leu)
c.2812G>C (p.Val938Leu)
c.2962G>C (p.Val988Leu)
c.2935G>C (p.Val979Leu)
7g.150947368C>TCA007991KCNH2n.3945G>A
c.3112G>A (p.Val1038Met)
c.2092G>A (p.Val698Met)
c.2812G>A (p.Val938Met)
c.2962G>A (p.Val988Met)
c.2935G>A (p.Val979Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947368_150947369insCGTCGCCCCGGGGCCA918162868KCNH2n.3945_3946insCCCCGGGGCGACGG
c.3112_3113insCCCCGGGGCGACGG (p.Val1038AlafsTer24)
c.2092_2093insCCCCGGGGCGACGG (p.Val698AlafsTer24)
c.2812_2813insCCCCGGGGCGACGG (p.Val938AlafsTer24)
c.2962_2963insCCCCGGGGCGACGG (p.Val988AlafsTer24)
c.2935_2936insCCCCGGGGCGACGG (p.Val979AlafsTer24)
 dbSNP
7g.150947370_150947372dupCA2685601815KCNH2n.3943_3945dup
c.3110_3112dup (p.Asp1037_Val1038insAsp)
c.2090_2092dup (p.Asp697_Val698insAsp)
c.2810_2812dup (p.Asp937_Val938insAsp)
c.2960_2962dup (p.Asp987_Val988insAsp)
c.2933_2935dup (p.Asp978_Val979insAsp)
 gnomAD v4
7g.150947369_150947373dupCA1139660329KCNH2n.3941_3945dup
c.3108_3112dup (p.Val1038AlafsTer21)
c.2088_2092dup (p.Val698AlafsTer21)
c.2808_2812dup (p.Val938AlafsTer21)
c.2958_2962dup (p.Val988AlafsTer21)
c.2931_2935dup (p.Val979AlafsTer21)
 ClinVar dbSNP
7g.150947369_150947374dupCA579075354KCNH2n.3940_3945dup
c.3107_3112dup (p.Asp1037_Val1038insGlyAsp)
c.2087_2092dup (p.Asp697_Val698insGlyAsp)
c.2807_2812dup (p.Asp937_Val938insGlyAsp)
c.2957_2962dup (p.Asp987_Val988insGlyAsp)
c.2930_2935dup (p.Asp978_Val979insGlyAsp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947368_150947375delinsGTCA2580077701KCNH2n.3938_3945delinsAC
c.3105_3112delinsAC (p.Gly1036_Val1038delinsLeu)
c.2085_2092delinsAC (p.Gly696_Val698delinsLeu)
c.2805_2812delinsAC (p.Gly936_Val938delinsLeu)
c.2955_2962delinsAC (p.Gly986_Val988delinsLeu)
c.2928_2935delinsAC (p.Gly977_Val979delinsLeu)
 ClinVar
7g.150947369_150947375dupCA658797027KCNH2n.3939_3945dup
c.3106_3112dup (p.Val1038GlyfsTer?)
c.2086_2092dup (p.Val698GlyfsTer?)
c.2806_2812dup (p.Val938GlyfsTer?)
c.2956_2962dup (p.Val988GlyfsTer?)
c.2929_2935dup (p.Val979GlyfsTer?)
 ClinVar dbSNP
7g.150947370_150947377dupCA305338KCNH2n.3938_3945dup
c.3105_3112dup (p.Val1038GlyfsTer22)
c.2085_2092dup (p.Val698GlyfsTer22)
c.2805_2812dup (p.Val938GlyfsTer22)
c.2955_2962dup (p.Val988GlyfsTer22)
c.2928_2935dup (p.Val979GlyfsTer22)
 ClinVar dbSNP
7g.150947370_150947383dupCA2685601816KCNH2n.3932_3945dup
c.3099_3112dup (p.Val1038GlyfsTer24)
c.2079_2092dup (p.Val698GlyfsTer24)
c.2799_2812dup (p.Val938GlyfsTer24)
c.2949_2962dup (p.Val988GlyfsTer24)
c.2922_2935dup (p.Val979GlyfsTer24)
 gnomAD v4
7g.150947370_150947383delCA16618397KCNH2n.3932_3945del
c.3099_3112del (p.Pro1034GlyfsTer?)
c.2079_2092del (p.Pro694GlyfsTer?)
c.2799_2812del (p.Pro934GlyfsTer?)
c.2949_2962del (p.Pro984GlyfsTer?)
c.2922_2935del (p.Pro975GlyfsTer?)
 ClinVar dbSNP
7g.150947370_150947386delCA658761307KCNH2n.3929_3945del
c.3096_3112del (p.Arg1033GlyfsTer?)
c.2076_2092del (p.Arg693GlyfsTer?)
c.2796_2812del (p.Arg933GlyfsTer?)
c.2946_2962del (p.Arg983GlyfsTer?)
c.2919_2935del (p.Arg974GlyfsTer?)
7g.150947368_150947403delCA2685601817KCNH2n.3910_3945del
c.3077_3112del (p.Pro1026_Val1038delinsLeu)
c.2057_2092del (p.Pro686_Val698delinsLeu)
c.2777_2812del (p.Pro926_Val938delinsLeu)
c.2927_2962del (p.Pro976_Val988delinsLeu)
c.2900_2935del (p.Pro967_Val979delinsLeu)
 dbSNP gnomAD v4
7g.150947369G>ACA007976KCNH2n.3944C>T
c.3111C>T (p.Asp1037=)
c.2091C>T (p.Asp697=)
c.2811C>T (p.Asp937=)
c.2961C>T (p.Asp987=)
c.2934C>T (p.Asp978=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947369G>CCA369852611KCNH2n.3944C>G
c.3111C>G (p.Asp1037Glu)
c.2091C>G (p.Asp697Glu)
c.2811C>G (p.Asp937Glu)
c.2961C>G (p.Asp987Glu)
c.2934C>G (p.Asp978Glu)
7g.150947369G=CA1752428552KCNH2n.3944C=
c.3111C= (p.Asp1037=)
c.2091C= (p.Asp697=)
c.2811C= (p.Asp937=)
c.2961C= (p.Asp987=)
c.2934C= (p.Asp978=)
7g.150947369G>TCA369852613KCNH2n.3944C>A
c.3111C>A (p.Asp1037Glu)
c.2091C>A (p.Asp697Glu)
c.2811C>A (p.Asp937Glu)
c.2961C>A (p.Asp987Glu)
c.2934C>A (p.Asp978Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947370_150947379delCA2695208782KCNH2n.3935_3944del
c.3102_3111del (p.Arg1035TrpfsTer19)
c.2082_2091del (p.Arg695TrpfsTer19)
c.2802_2811del (p.Arg935TrpfsTer19)
c.2952_2961del (p.Arg985TrpfsTer19)
c.2925_2934del (p.Arg976TrpfsTer19)
7g.150947370T>ACA369852616KCNH2n.3943A>T
c.3110A>T (p.Asp1037Val)
c.2090A>T (p.Asp697Val)
c.2810A>T (p.Asp937Val)
c.2960A>T (p.Asp987Val)
c.2933A>T (p.Asp978Val)
7g.150947370T>CCA369852618KCNH2n.3943A>G
c.3110A>G (p.Asp1037Gly)
c.2090A>G (p.Asp697Gly)
c.2810A>G (p.Asp937Gly)
c.2960A>G (p.Asp987Gly)
c.2933A>G (p.Asp978Gly)
7g.150947370T>GCA369852615KCNH2n.3943A>C
c.3110A>C (p.Asp1037Ala)
c.2090A>C (p.Asp697Ala)
c.2810A>C (p.Asp937Ala)
c.2960A>C (p.Asp987Ala)
c.2933A>C (p.Asp978Ala)
7g.150947370_150947381delinsTCGCCCCGGGGCCA1752428556KCNH2n.3932_3943delinsGCCCCGGGGCGA
c.3099_3110delinsGCCCCGGGGCGA (p.Arg1033=)
c.2079_2090delinsGCCCCGGGGCGA (p.Arg693=)
c.2799_2810delinsGCCCCGGGGCGA (p.Arg933=)
c.2949_2960delinsGCCCCGGGGCGA (p.Arg983=)
c.2922_2933delinsGCCCCGGGGCGA (p.Arg974=)
7g.150947371C>ACA369852620KCNH2n.3942G>T
c.3109G>T (p.Asp1037Tyr)
c.2089G>T (p.Asp697Tyr)
c.2809G>T (p.Asp937Tyr)
c.2959G>T (p.Asp987Tyr)
c.2932G>T (p.Asp978Tyr)
 dbSNP gnomAD v4
7g.150947371C=CA1752428565KCNH2n.3942G=
c.3109G= (p.Asp1037=)
c.2089G= (p.Asp697=)
c.2809G= (p.Asp937=)
c.2959G= (p.Asp987=)
c.2932G= (p.Asp978=)
7g.150947371C>GCA369852621KCNH2n.3942G>C
c.3109G>C (p.Asp1037His)
c.2089G>C (p.Asp697His)
c.2809G>C (p.Asp937His)
c.2959G>C (p.Asp987His)
c.2932G>C (p.Asp978His)
7g.150947371C>TCA007968KCNH2n.3942G>A
c.3109G>A (p.Asp1037Asn)
c.2089G>A (p.Asp697Asn)
c.2809G>A (p.Asp937Asn)
c.2959G>A (p.Asp987Asn)
c.2932G>A (p.Asp978Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947372_150947375dupCA658761308KCNH2n.3939_3942dup
c.3106_3109dup (p.Asp1037GlyfsTer?)
c.2086_2089dup (p.Asp697GlyfsTer?)
c.2806_2809dup (p.Asp937GlyfsTer?)
c.2956_2959dup (p.Asp987GlyfsTer?)
c.2929_2932dup (p.Asp978GlyfsTer?)
7g.150947373_150947377dupCA2573141844KCNH2n.3938_3942dup
c.3105_3109dup (p.Asp1037GlyfsTer22)
c.2085_2089dup (p.Asp697GlyfsTer22)
c.2805_2809dup (p.Asp937GlyfsTer22)
c.2955_2959dup (p.Asp987GlyfsTer22)
c.2928_2932dup (p.Asp978GlyfsTer22)
 ClinVar dbSNP
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.150947372G>ACA037083KCNH2n.3941C>T
c.3108C>T (p.Gly1036=)
c.2088C>T (p.Gly696=)
c.2808C>T (p.Gly936=)
c.2958C>T (p.Gly986=)
c.2931C>T (p.Gly977=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947372G>CCA458644829KCNH2n.3941C>G
c.3108C>G (p.Gly1036=)
c.2088C>G (p.Gly696=)
c.2808C>G (p.Gly936=)
c.2958C>G (p.Gly986=)
c.2931C>G (p.Gly977=)
7g.150947372G=CA1752428580KCNH2n.3941C=
c.3108C= (p.Gly1036=)
c.2088C= (p.Gly696=)
c.2808C= (p.Gly936=)
c.2958C= (p.Gly986=)
c.2931C= (p.Gly977=)
7g.150947372G>TCA458644830KCNH2n.3941C>A
c.3108C>A (p.Gly1036=)
c.2088C>A (p.Gly696=)
c.2808C>A (p.Gly936=)
c.2958C>A (p.Gly986=)
c.2931C>A (p.Gly977=)
 gnomAD v4
7g.150947372dupCA915945567KCNH2n.3941dup
c.3108dup (p.Asp1037ArgfsTer?)
c.2088dup (p.Asp697ArgfsTer?)
c.2808dup (p.Asp937ArgfsTer?)
c.2958dup (p.Asp987ArgfsTer?)
c.2931dup (p.Asp978ArgfsTer?)
 ClinVar dbSNP
7g.150947372_150947373delinsGCCA1752428582KCNH2n.3940_3941delinsGC
c.3107_3108delinsGC (p.Gly1036=)
c.2087_2088delinsGC (p.Gly696=)
c.2807_2808delinsGC (p.Gly936=)
c.2957_2958delinsGC (p.Gly986=)
c.2930_2931delinsGC (p.Gly977=)
7g.150947372_150947380delinsGCCCCGGGGCA1752428579KCNH2n.3933_3941delinsCCCCGGGGC
c.3100_3108delinsCCCCGGGGC (p.Pro1034=)
c.2080_2088delinsCCCCGGGGC (p.Pro694=)
c.2800_2808delinsCCCCGGGGC (p.Pro934=)
c.2950_2958delinsCCCCGGGGC (p.Pro984=)
c.2923_2931delinsCCCCGGGGC (p.Pro975=)
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.150947373C>ACA369852628KCNH2n.3940G>T
c.3107G>T (p.Gly1036Val)
c.2087G>T (p.Gly696Val)
c.2807G>T (p.Gly936Val)
c.2957G>T (p.Gly986Val)
c.2930G>T (p.Gly977Val)
 dbSNP gnomAD v3 gnomAD v4
7g.150947373C=CA1752428604KCNH2n.3940G=
c.3107G= (p.Gly1036=)
c.2087G= (p.Gly696=)
c.2807G= (p.Gly936=)
c.2957G= (p.Gly986=)
c.2930G= (p.Gly977=)
7g.150947373C>GCA369852630KCNH2n.3940G>C
c.3107G>C (p.Gly1036Ala)
c.2087G>C (p.Gly696Ala)
c.2807G>C (p.Gly936Ala)
c.2957G>C (p.Gly986Ala)
c.2930G>C (p.Gly977Ala)
7g.150947373C>TCA007960KCNH2n.3940G>A
c.3107G>A (p.Gly1036Asp)
c.2087G>A (p.Gly696Asp)
c.2807G>A (p.Gly936Asp)
c.2957G>A (p.Gly986Asp)
c.2930G>A (p.Gly977Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947373_150947376delCA2695208783KCNH2n.3937_3940del
c.3104_3107del (p.Arg1035ProfsTer21)
c.2084_2087del (p.Arg695ProfsTer21)
c.2804_2807del (p.Arg935ProfsTer21)
c.2954_2957del (p.Arg985ProfsTer21)
c.2927_2930del (p.Arg976ProfsTer21)
7g.150947376dupCA305506KCNH2n.3940dup
c.3107dup (p.Asp1037ArgfsTer?)
c.2087dup (p.Asp697ArgfsTer?)
c.2807dup (p.Asp937ArgfsTer?)
c.2957dup (p.Asp987ArgfsTer?)
c.2930dup (p.Asp978ArgfsTer?)
 ClinVar dbSNP gnomAD v4
7g.150947375_150947376dupCA16042570KCNH2n.3939_3940dup
c.3106_3107dup (p.Asp1037AlafsTer21)
c.2086_2087dup (p.Asp697AlafsTer21)
c.2806_2807dup (p.Asp937AlafsTer21)
c.2956_2957dup (p.Asp987AlafsTer21)
c.2929_2930dup (p.Asp978AlafsTer21)
 ClinVar dbSNP
7g.150947374_150947376dupCA579075355KCNH2n.3938_3940dup
c.3105_3107dup (p.Gly1036_Asp1037insGly)
c.2085_2087dup (p.Gly696_Asp697insGly)
c.2805_2807dup (p.Gly936_Asp937insGly)
c.2955_2957dup (p.Gly986_Asp987insGly)
c.2928_2930dup (p.Gly977_Asp978insGly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947373_150947376dupCA305337KCNH2n.3937_3940dup
c.3104_3107dup (p.Asp1037GlyfsTer?)
c.2084_2087dup (p.Asp697GlyfsTer?)
c.2804_2807dup (p.Asp937GlyfsTer?)
c.2954_2957dup (p.Asp987GlyfsTer?)
c.2927_2930dup (p.Asp978GlyfsTer?)
 ClinVar dbSNP
7g.150947376delCA007951KCNH2n.3940del
c.3107del (p.Gly1036AlafsTer21)
c.2087del (p.Gly696AlafsTer21)
c.2807del (p.Gly936AlafsTer21)
c.2957del (p.Gly986AlafsTer21)
c.2930del (p.Gly977AlafsTer21)
 ClinVar dbSNP gnomAD v4
7g.150947373_150947380delinsGCCCA1139660330KCNH2n.3933_3940delinsGGC
c.3100_3107delinsGGC (p.Pro1034GlyfsTer?)
c.2080_2087delinsGGC (p.Pro694GlyfsTer?)
c.2800_2807delinsGGC (p.Pro934GlyfsTer?)
c.2950_2957delinsGGC (p.Pro984GlyfsTer?)
c.2923_2930delinsGGC (p.Pro975GlyfsTer?)
 ClinVar dbSNP
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.150947374C>ACA369852638KCNH2n.3939G>T
c.3106G>T (p.Gly1036Cys)
c.2086G>T (p.Gly696Cys)
c.2806G>T (p.Gly936Cys)
c.2956G>T (p.Gly986Cys)
c.2929G>T (p.Gly977Cys)
 gnomAD v4
7g.150947374C=CA1752428638KCNH2n.3939G=
c.3106G= (p.Gly1036=)
c.2086G= (p.Gly696=)
c.2806G= (p.Gly936=)
c.2956G= (p.Gly986=)
c.2929G= (p.Gly977=)
7g.150947374C>GCA369852636KCNH2n.3939G>C
c.3106G>C (p.Gly1036Arg)
c.2086G>C (p.Gly696Arg)
c.2806G>C (p.Gly936Arg)
c.2956G>C (p.Gly986Arg)
c.2929G>C (p.Gly977Arg)
7g.150947374C>TCA369852634KCNH2n.3939G>A
c.3106G>A (p.Gly1036Ser)
c.2086G>A (p.Gly696Ser)
c.2806G>A (p.Gly936Ser)
c.2956G>A (p.Gly986Ser)
c.2929G>A (p.Gly977Ser)
 ClinVar dbSNP gnomAD v4
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.150947375C>ACA458644834KCNH2n.3938G>T
c.3105G>T (p.Arg1035=)
c.2085G>T (p.Arg695=)
c.2805G>T (p.Arg935=)
c.2955G>T (p.Arg985=)
c.2928G>T (p.Arg976=)
 dbSNP gnomAD v2 gnomAD v4
7g.150947375C=CA1752428641KCNH2n.3938G=
c.3105G= (p.Arg1035=)
c.2085G= (p.Arg695=)
c.2805G= (p.Arg935=)
c.2955G= (p.Arg985=)
c.2928G= (p.Arg976=)
7g.150947375C>GCA458644833KCNH2n.3938G>C
c.3105G>C (p.Arg1035=)
c.2085G>C (p.Arg695=)
c.2805G>C (p.Arg935=)
c.2955G>C (p.Arg985=)
c.2928G>C (p.Arg976=)
7g.150947375C>TCA458644832KCNH2n.3938G>A
c.3105G>A (p.Arg1035=)
c.2085G>A (p.Arg695=)
c.2805G>A (p.Arg935=)
c.2955G>A (p.Arg985=)
c.2928G>A (p.Arg976=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
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.150947375_150947376insGGCA2695208784KCNH2n.3937_3938insCC
c.3104_3105insCC (p.Gly1036ArgfsTer22)
c.2084_2085insCC (p.Gly696ArgfsTer22)
c.2804_2805insCC (p.Gly936ArgfsTer22)
c.2954_2955insCC (p.Gly986ArgfsTer22)
c.2927_2928insCC (p.Gly977ArgfsTer22)
7g.150947376C>ACA369852640KCNH2n.3937G>T
c.3104G>T (p.Arg1035Leu)
c.2084G>T (p.Arg695Leu)
c.2804G>T (p.Arg935Leu)
c.2954G>T (p.Arg985Leu)
c.2927G>T (p.Arg976Leu)
 dbSNP gnomAD v4
7g.150947376C=CA1752428646KCNH2n.3937G=
c.3104G= (p.Arg1035=)
c.2084G= (p.Arg695=)
c.2804G= (p.Arg935=)
c.2954G= (p.Arg985=)
c.2927G= (p.Arg976=)
7g.150947376C>GCA369852641KCNH2n.3937G>C
c.3104G>C (p.Arg1035Pro)
c.2084G>C (p.Arg695Pro)
c.2804G>C (p.Arg935Pro)
c.2954G>C (p.Arg985Pro)
c.2927G>C (p.Arg976Pro)
 gnomAD v4
7g.150947376C>TCA037044KCNH2n.3937G>A
c.3104G>A (p.Arg1035Gln)
c.2084G>A (p.Arg695Gln)
c.2804G>A (p.Arg935Gln)
c.2954G>A (p.Arg985Gln)
c.2927G>A (p.Arg976Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947376_150947377delinsCGCA1752428649KCNH2n.3936_3937delinsCG
c.3103_3104delinsCG (p.Arg1035=)
c.2083_2084delinsCG (p.Arg695=)
c.2803_2804delinsCG (p.Arg935=)
c.2953_2954delinsCG (p.Arg985=)
c.2926_2927delinsCG (p.Arg976=)
7g.150947377G>ACA007929KCNH2n.3936C>T
c.3103C>T (p.Arg1035Trp)
c.2083C>T (p.Arg695Trp)
c.2803C>T (p.Arg935Trp)
c.2953C>T (p.Arg985Trp)
c.2926C>T (p.Arg976Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150947377G>CCA369852644KCNH2n.3936C>G
c.3103C>G (p.Arg1035Gly)
c.2083C>G (p.Arg695Gly)
c.2803C>G (p.Arg935Gly)
c.2953C>G (p.Arg985Gly)
c.2926C>G (p.Arg976Gly)
 gnomAD v4
7g.150947377G=CA1752428660KCNH2n.3936C=
c.3103C= (p.Arg1035=)
c.2083C= (p.Arg695=)
c.2803C= (p.Arg935=)
c.2953C= (p.Arg985=)
c.2926C= (p.Arg976=)
7g.150947377G>TCA037022KCNH2n.3936C>A
c.3103C>A (p.Arg1035=)
c.2083C>A (p.Arg695=)
c.2803C>A (p.Arg935=)
c.2953C>A (p.Arg985=)
c.2926C>A (p.Arg976=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947380dupCA916080374KCNH2n.3936dup
c.3103dup (p.Arg1035ProfsTer?)
c.2083dup (p.Arg695ProfsTer?)
c.2803dup (p.Arg935ProfsTer?)
c.2953dup (p.Arg985ProfsTer?)
c.2926dup (p.Arg976ProfsTer?)
 ClinVar dbSNP gnomAD v4
7g.150947379_150947380dupCA2573332602KCNH2n.3935_3936dup
c.3102_3103dup (p.Arg1035ProfsTer23)
c.2082_2083dup (p.Arg695ProfsTer23)
c.2802_2803dup (p.Arg935ProfsTer23)
c.2952_2953dup (p.Arg985ProfsTer23)
c.2925_2926dup (p.Arg976ProfsTer23)
7g.150947377_150947380dupCA2580077707KCNH2n.3933_3936dup
c.3100_3103dup (p.Arg1035ProfsTer?)
c.2080_2083dup (p.Arg695ProfsTer?)
c.2800_2803dup (p.Arg935ProfsTer?)
c.2950_2953dup (p.Arg985ProfsTer?)
c.2923_2926dup (p.Arg976ProfsTer?)
 ClinVar
7g.150947380delCA007936KCNH2n.3936del
c.3103del (p.Arg1035GlyfsTer22)
c.2083del (p.Arg695GlyfsTer22)
c.2803del (p.Arg935GlyfsTer22)
c.2953del (p.Arg985GlyfsTer22)
c.2926del (p.Arg976GlyfsTer22)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947379_150947380delCA2695208785KCNH2n.3935_3936del
c.3102_3103del (p.Arg1035GlyfsTer?)
c.2082_2083del (p.Arg695GlyfsTer?)
c.2802_2803del (p.Arg935GlyfsTer?)
c.2952_2953del (p.Arg985GlyfsTer?)
c.2925_2926del (p.Arg976GlyfsTer?)
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.150947377_150947378insCCA2695208786KCNH2n.3935_3936insG
c.3102_3103insG (p.Arg1035AlafsTer?)
c.2082_2083insG (p.Arg695AlafsTer?)
c.2802_2803insG (p.Arg935AlafsTer?)
c.2952_2953insG (p.Arg985AlafsTer?)
c.2925_2926insG (p.Arg976AlafsTer?)
7g.150947378G>ACA458644838KCNH2n.3935C>T
c.3102C>T (p.Pro1034=)
c.2082C>T (p.Pro694=)
c.2802C>T (p.Pro934=)
c.2952C>T (p.Pro984=)
c.2925C>T (p.Pro975=)
 gnomAD v4
7g.150947378G>CCA458644839KCNH2n.3935C>G
c.3102C>G (p.Pro1034=)
c.2082C>G (p.Pro694=)
c.2802C>G (p.Pro934=)
c.2952C>G (p.Pro984=)
c.2925C>G (p.Pro975=)
7g.150947378G>TCA458644840KCNH2n.3935C>A
c.3102C>A (p.Pro1034=)
c.2082C>A (p.Pro694=)
c.2802C>A (p.Pro934=)
c.2952C>A (p.Pro984=)
c.2925C>A (p.Pro975=)
 gnomAD v4
7g.150947378_150947381dupCA915945568KCNH2n.3932_3935dup
c.3099_3102dup (p.Arg1035AlafsTer?)
c.2079_2082dup (p.Arg695AlafsTer?)
c.2799_2802dup (p.Arg935AlafsTer?)
c.2949_2952dup (p.Arg985AlafsTer?)
c.2922_2925dup (p.Arg976AlafsTer?)
 ClinVar dbSNP
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.150947379G>ACA369852647KCNH2n.3934C>T
c.3101C>T (p.Pro1034Leu)
c.2081C>T (p.Pro694Leu)
c.2801C>T (p.Pro934Leu)
c.2951C>T (p.Pro984Leu)
c.2924C>T (p.Pro975Leu)
 gnomAD v4
7g.150947379G>CCA369852649KCNH2n.3934C>G
c.3101C>G (p.Pro1034Arg)
c.2081C>G (p.Pro694Arg)
c.2801C>G (p.Pro934Arg)
c.2951C>G (p.Pro984Arg)
c.2924C>G (p.Pro975Arg)
 gnomAD v4
7g.150947379G=CA1752428683KCNH2n.3934C=
c.3101C= (p.Pro1034=)
c.2081C= (p.Pro694=)
c.2801C= (p.Pro934=)
c.2951C= (p.Pro984=)
c.2924C= (p.Pro975=)
7g.150947379G>TCA369852650KCNH2n.3934C>A
c.3101C>A (p.Pro1034His)
c.2081C>A (p.Pro694His)
c.2801C>A (p.Pro934His)
c.2951C>A (p.Pro984His)
c.2924C>A (p.Pro975His)
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.150947380G>ACA369852652KCNH2n.3933C>T
c.3100C>T (p.Pro1034Ser)
c.2080C>T (p.Pro694Ser)
c.2800C>T (p.Pro934Ser)
c.2950C>T (p.Pro984Ser)
c.2923C>T (p.Pro975Ser)
 gnomAD v4
7g.150947380G>CCA369852653KCNH2n.3933C>G
c.3100C>G (p.Pro1034Ala)
c.2080C>G (p.Pro694Ala)
c.2800C>G (p.Pro934Ala)
c.2950C>G (p.Pro984Ala)
c.2923C>G (p.Pro975Ala)
7g.150947380G=CA1752428691KCNH2n.3933C=
c.3100C= (p.Pro1034=)
c.2080C= (p.Pro694=)
c.2800C= (p.Pro934=)
c.2950C= (p.Pro984=)
c.2923C= (p.Pro975=)
7g.150947380G>TCA369852655KCNH2n.3933C>A
c.3100C>A (p.Pro1034Thr)
c.2080C>A (p.Pro694Thr)
c.2800C>A (p.Pro934Thr)
c.2950C>A (p.Pro984Thr)
c.2923C>A (p.Pro975Thr)
 gnomAD v4
7g.150947380_150947381delinsGCCA1752428689KCNH2n.3932_3933delinsGC
c.3099_3100delinsGC (p.Arg1033=)
c.2079_2080delinsGC (p.Arg693=)
c.2799_2800delinsGC (p.Arg933=)
c.2949_2950delinsGC (p.Arg983=)
c.2922_2923delinsGC (p.Arg974=)
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.150947381C>ACA169071881KCNH2n.3932G>T
c.3099G>T (p.Arg1033=)
c.2079G>T (p.Arg693=)
c.2799G>T (p.Arg933=)
c.2949G>T (p.Arg983=)
c.2922G>T (p.Arg974=)
 dbSNP gnomAD v2 gnomAD v4
7g.150947381C=CA1752428710KCNH2n.3932G=
c.3099G= (p.Arg1033=)
c.2079G= (p.Arg693=)
c.2799G= (p.Arg933=)
c.2949G= (p.Arg983=)
c.2922G= (p.Arg974=)
7g.150947381C>GCA458644844KCNH2n.3932G>C
c.3099G>C (p.Arg1033=)
c.2079G>C (p.Arg693=)
c.2799G>C (p.Arg933=)
c.2949G>C (p.Arg983=)
c.2922G>C (p.Arg974=)
 ClinVar dbSNP
7g.150947381C>TCA458644845KCNH2n.3932G>A
c.3099G>A (p.Arg1033=)
c.2079G>A (p.Arg693=)
c.2799G>A (p.Arg933=)
c.2949G>A (p.Arg983=)
c.2922G>A (p.Arg974=)
 gnomAD v4
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

Number of alleles fetched