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.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.150947391_150947665dupCA645372846KCNH2n.3740_3923dup
c.2907_3090dup
c.1887_2070dup
c.2607_2790dup
c.2757_2940dup
c.2730_2913dup
 ClinVar
7g.150947665_150947666insGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCA916080377KCNH2n.3799_3800insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG
c.2966_2967insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG
c.1946_1947insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG
c.2666_2667insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG
c.*46_*47insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG
c.2816_2817insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG
c.2789_2790insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG
7g.150947624_150947631delCA2739289495KCNH2n.3774_3781del
c.2941_2948del (p.Ser981LeufsTer?)
c.1921_1928del (p.Ser641LeufsTer?)
c.2641_2648del (p.Ser881LeufsTer?)
c.*21_*28del (n.*21_*28del)
c.2791_2798del (p.Ser931LeufsTer?)
c.2764_2771del (p.Ser922LeufsTer?)
7g.150947624_150947629delinsACAGGGGGTCA2573141849KCNH2n.3775_3780delinsACCCCCTGT
c.2942_2947delinsACCCCCTGT (p.Ser981_Thr983delinsAsnProLeuSer)
c.1922_1927delinsACCCCCTGT (p.Ser641_Thr643delinsAsnProLeuSer)
c.2642_2647delinsACCCCCTGT (p.Ser881_Thr883delinsAsnProLeuSer)
c.*22_*27delinsACCCCCTGT (n.*22_*27delinsACCCCCTGT)
c.2792_2797delinsACCCCCTGT (p.Ser931_Thr933delinsAsnProLeuSer)
c.2765_2770delinsACCCCCTGT (p.Ser922_Thr924delinsAsnProLeuSer)
 ClinVar dbSNP
7g.150947626_150947628delCA2685602119KCNH2n.3777_3779del
c.2944_2946del (p.Asp982del)
c.1924_1926del (p.Asp642del)
c.2644_2646del (p.Asp882del)
c.*24_*26del (n.*24_*26del)
c.2794_2796del (p.Asp932del)
c.2767_2769del (p.Asp923del)
 gnomAD v4
7g.150947626T>ACA369853075KCNH2n.3778A>T
c.2945A>T (p.Asp982Val)
c.1925A>T (p.Asp642Val)
c.2645A>T (p.Asp882Val)
c.*25A>T (n.*25A>T)
c.2795A>T (p.Asp932Val)
c.2768A>T (p.Asp923Val)
 dbSNP gnomAD v3 gnomAD v4
7g.150947626T>CCA369853077KCNH2n.3778A>G
c.2945A>G (p.Asp982Gly)
c.1925A>G (p.Asp642Gly)
c.2645A>G (p.Asp882Gly)
c.*25A>G (n.*25A>G)
c.2795A>G (p.Asp932Gly)
c.2768A>G (p.Asp923Gly)
7g.150947626T>GCA369853076KCNH2n.3778A>C
c.2945A>C (p.Asp982Ala)
c.1925A>C (p.Asp642Ala)
c.2645A>C (p.Asp882Ala)
c.*25A>C (n.*25A>C)
c.2795A>C (p.Asp932Ala)
c.2768A>C (p.Asp923Ala)
7g.150947626T=CA1752429791KCNH2n.3778A=
c.2945A= (p.Asp982=)
c.1925A= (p.Asp642=)
c.2645A= (p.Asp882=)
c.*25A= (n.*25A=)
c.2795A= (p.Asp932=)
c.2768A= (p.Asp923=)
7g.150947627C>ACA369853078KCNH2n.3777G>T
c.2944G>T (p.Asp982Tyr)
c.1924G>T (p.Asp642Tyr)
c.2644G>T (p.Asp882Tyr)
c.*24G>T (n.*24G>T)
c.2794G>T (p.Asp932Tyr)
c.2767G>T (p.Asp923Tyr)
7g.150947627C=CA1752429795KCNH2n.3777G=
c.2944G= (p.Asp982=)
c.1924G= (p.Asp642=)
c.2644G= (p.Asp882=)
c.*24G= (n.*24G=)
c.2794G= (p.Asp932=)
c.2767G= (p.Asp923=)
7g.150947627C>GCA369853079KCNH2n.3777G>C
c.2944G>C (p.Asp982His)
c.1924G>C (p.Asp642His)
c.2644G>C (p.Asp882His)
c.*24G>C (n.*24G>C)
c.2794G>C (p.Asp932His)
c.2767G>C (p.Asp923His)
 gnomAD v4
7g.150947627C>TCA035595KCNH2n.3777G>A
c.2944G>A (p.Asp982Asn)
c.1924G>A (p.Asp642Asn)
c.2644G>A (p.Asp882Asn)
c.*24G>A (n.*24G>A)
c.2794G>A (p.Asp932Asn)
c.2767G>A (p.Asp923Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947628G>ACA035581KCNH2n.3776C>T
c.2943C>T (p.Ser981=)
c.1923C>T (p.Ser641=)
c.2643C>T (p.Ser881=)
c.*23C>T (n.*23C>T)
c.2793C>T (p.Ser931=)
c.2766C>T (p.Ser922=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.150947628G>CCA369853080KCNH2n.3776C>G
c.2943C>G (p.Ser981Arg)
c.1923C>G (p.Ser641Arg)
c.2643C>G (p.Ser881Arg)
c.*23C>G (n.*23C>G)
c.2793C>G (p.Ser931Arg)
c.2766C>G (p.Ser922Arg)
 dbSNP gnomAD v4
7g.150947628G=CA1752429803KCNH2n.3776C=
c.2943C= (p.Ser981=)
c.1923C= (p.Ser641=)
c.2643C= (p.Ser881=)
c.*23C= (n.*23C=)
c.2793C= (p.Ser931=)
c.2766C= (p.Ser922=)
7g.150947628G>TCA369853081KCNH2n.3776C>A
c.2943C>A (p.Ser981Arg)
c.1923C>A (p.Ser641Arg)
c.2643C>A (p.Ser881Arg)
c.*23C>A (n.*23C>A)
c.2793C>A (p.Ser931Arg)
c.2766C>A (p.Ser922Arg)
 gnomAD v4
7g.150947631_150947633dupCA2685602120KCNH2n.3774_3776dup
c.2941_2943dup (p.Ser981_Asp982insSer)
c.1921_1923dup (p.Ser641_Asp642insSer)
c.2641_2643dup (p.Ser881_Asp882insSer)
c.*21_*23dup (n.*21_*23dup)
c.2791_2793dup (p.Ser931_Asp932insSer)
c.2764_2766dup (p.Ser922_Asp923insSer)
 gnomAD v4
7g.150947629delCA2695208802KCNH2n.3775del
c.2942del (p.Ser981ThrfsTer?)
c.1922del (p.Ser641ThrfsTer?)
c.2642del (p.Ser881ThrfsTer?)
c.*22del (n.*22del)
c.2792del (p.Ser931ThrfsTer?)
c.2765del (p.Ser922ThrfsTer?)
7g.150947629C>ACA369853084KCNH2n.3775G>T
c.2942G>T (p.Ser981Ile)
c.1922G>T (p.Ser641Ile)
c.2642G>T (p.Ser881Ile)
c.*22G>T (n.*22G>T)
c.2792G>T (p.Ser931Ile)
c.2765G>T (p.Ser922Ile)
7g.150947629C=CA1752429813KCNH2n.3775G=
c.2942G= (p.Ser981=)
c.1922G= (p.Ser641=)
c.2642G= (p.Ser881=)
c.*22G= (n.*22G=)
c.2792G= (p.Ser931=)
c.2765G= (p.Ser922=)
7g.150947629C>GCA369853082KCNH2n.3775G>C
c.2942G>C (p.Ser981Thr)
c.1922G>C (p.Ser641Thr)
c.2642G>C (p.Ser881Thr)
c.*22G>C (n.*22G>C)
c.2792G>C (p.Ser931Thr)
c.2765G>C (p.Ser922Thr)
 dbSNP
7g.150947629C>TCA369853083KCNH2n.3775G>A
c.2942G>A (p.Ser981Asn)
c.1922G>A (p.Ser641Asn)
c.2642G>A (p.Ser881Asn)
c.*22G>A (n.*22G>A)
c.2792G>A (p.Ser931Asn)
c.2765G>A (p.Ser922Asn)
 dbSNP gnomAD v2 gnomAD v4
7g.150947630T>ACA369853085KCNH2n.3774A>T
c.2941A>T (p.Ser981Cys)
c.1921A>T (p.Ser641Cys)
c.2641A>T (p.Ser881Cys)
c.*21A>T (n.*21A>T)
c.2791A>T (p.Ser931Cys)
c.2764A>T (p.Ser922Cys)
7g.150947630T>CCA007666KCNH2n.3774A>G
c.2941A>G (p.Ser981Gly)
c.1921A>G (p.Ser641Gly)
c.2641A>G (p.Ser881Gly)
c.*21A>G (n.*21A>G)
c.2791A>G (p.Ser931Gly)
c.2764A>G (p.Ser922Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947630T>GCA369853086KCNH2n.3774A>C
c.2941A>C (p.Ser981Arg)
c.1921A>C (p.Ser641Arg)
c.2641A>C (p.Ser881Arg)
c.*21A>C (n.*21A>C)
c.2791A>C (p.Ser931Arg)
c.2764A>C (p.Ser922Arg)
7g.150947630T=CA1752429817KCNH2n.3774A=
c.2941A= (p.Ser981=)
c.1921A= (p.Ser641=)
c.2641A= (p.Ser881=)
c.*21A= (n.*21A=)
c.2791A= (p.Ser931=)
c.2764A= (p.Ser922=)
7g.150947630_150947640dupCA2573141850KCNH2n.3764_3774dup
c.2931_2941dup (p.Ser981ThrfsTer?)
c.1911_1921dup (p.Ser641ThrfsTer?)
c.2631_2641dup (p.Ser881ThrfsTer?)
c.*11_*21dup (n.*11_*21dup)
c.2781_2791dup (p.Ser931ThrfsTer?)
c.2754_2764dup (p.Ser922ThrfsTer?)
 ClinVar dbSNP
7g.150947631G>ACA458870789KCNH2n.3773C>T
c.2940C>T (p.Ser980=)
c.1920C>T (p.Ser640=)
c.2640C>T (p.Ser880=)
c.*20C>T (n.*20C>T)
c.2790C>T (p.Ser930=)
c.2763C>T (p.Ser921=)
7g.150947631G>CCA369853087KCNH2n.3773C>G
c.2940C>G (p.Ser980Arg)
c.1920C>G (p.Ser640Arg)
c.2640C>G (p.Ser880Arg)
c.*20C>G (n.*20C>G)
c.2790C>G (p.Ser930Arg)
c.2763C>G (p.Ser921Arg)
 gnomAD v4
7g.150947631G>TCA369853088KCNH2n.3773C>A
c.2940C>A (p.Ser980Arg)
c.1920C>A (p.Ser640Arg)
c.2640C>A (p.Ser880Arg)
c.*20C>A (n.*20C>A)
c.2790C>A (p.Ser930Arg)
c.2763C>A (p.Ser921Arg)
7g.150947631_150947636delinsGCTCTTCA1752429825KCNH2n.3768_3773delinsAAGAGC
c.2935_2940delinsAAGAGC (p.Lys979=)
c.1915_1920delinsAAGAGC (p.Lys639=)
c.2635_2640delinsAAGAGC (p.Lys879=)
c.*15_*20delinsAAGAGC (n.*15_*20delinsAAGAGC)
c.2785_2790delinsAAGAGC (p.Lys929=)
c.2758_2763delinsAAGAGC (p.Lys920=)
7g.150947632C>ACA369853091KCNH2n.3772G>T
c.2939G>T (p.Ser980Ile)
c.1919G>T (p.Ser640Ile)
c.2639G>T (p.Ser880Ile)
c.*19G>T (n.*19G>T)
c.2789G>T (p.Ser930Ile)
c.2762G>T (p.Ser921Ile)
7g.150947632C>GCA369853089KCNH2n.3772G>C
c.2939G>C (p.Ser980Thr)
c.1919G>C (p.Ser640Thr)
c.2639G>C (p.Ser880Thr)
c.*19G>C (n.*19G>C)
c.2789G>C (p.Ser930Thr)
c.2762G>C (p.Ser921Thr)
7g.150947632C>TCA369853090KCNH2n.3772G>A
c.2939G>A (p.Ser980Asn)
c.1919G>A (p.Ser640Asn)
c.2639G>A (p.Ser880Asn)
c.*19G>A (n.*19G>A)
c.2789G>A (p.Ser930Asn)
c.2762G>A (p.Ser921Asn)
7g.150947635_150947639delCA645372845KCNH2n.3768_3772del
c.2935_2939del (p.Lys979GlnfsTer?)
c.1915_1919del (p.Lys639GlnfsTer?)
c.2635_2639del (p.Lys879GlnfsTer?)
c.*15_*19del (n.*15_*19del)
c.2785_2789del (p.Lys929GlnfsTer?)
c.2758_2762del (p.Lys920GlnfsTer?)
 ClinVar dbSNP
7g.150947633T>ACA369853092KCNH2n.3771A>T
c.2938A>T (p.Ser980Cys)
c.1918A>T (p.Ser640Cys)
c.2638A>T (p.Ser880Cys)
c.*18A>T (n.*18A>T)
c.2788A>T (p.Ser930Cys)
c.2761A>T (p.Ser921Cys)
7g.150947633T>CCA369853093KCNH2n.3771A>G
c.2938A>G (p.Ser980Gly)
c.1918A>G (p.Ser640Gly)
c.2638A>G (p.Ser880Gly)
c.*18A>G (n.*18A>G)
c.2788A>G (p.Ser930Gly)
c.2761A>G (p.Ser921Gly)
7g.150947633T>GCA369853094KCNH2n.3771A>C
c.2938A>C (p.Ser980Arg)
c.1918A>C (p.Ser640Arg)
c.2638A>C (p.Ser880Arg)
c.*18A>C (n.*18A>C)
c.2788A>C (p.Ser930Arg)
c.2761A>C (p.Ser921Arg)
7g.150947634C>ACA369853095KCNH2n.3770G>T
c.2937G>T (p.Lys979Asn)
c.1917G>T (p.Lys639Asn)
c.2637G>T (p.Lys879Asn)
c.*17G>T (n.*17G>T)
c.2787G>T (p.Lys929Asn)
c.2760G>T (p.Lys920Asn)
 gnomAD v4
7g.150947634C>GCA369853096KCNH2n.3770G>C
c.2937G>C (p.Lys979Asn)
c.1917G>C (p.Lys639Asn)
c.2637G>C (p.Lys879Asn)
c.*17G>C (n.*17G>C)
c.2787G>C (p.Lys929Asn)
c.2760G>C (p.Lys920Asn)
 ClinVar
7g.150947634C>TCA458870793KCNH2n.3770G>A
c.2937G>A (p.Lys979=)
c.1917G>A (p.Lys639=)
c.2637G>A (p.Lys879=)
c.*17G>A (n.*17G>A)
c.2787G>A (p.Lys929=)
c.2760G>A (p.Lys920=)
 ClinVar dbSNP
7g.150947635T>ACA369853097KCNH2n.3769A>T
c.2936A>T (p.Lys979Met)
c.1916A>T (p.Lys639Met)
c.2636A>T (p.Lys879Met)
c.*16A>T (n.*16A>T)
c.2786A>T (p.Lys929Met)
c.2759A>T (p.Lys920Met)
7g.150947635T>CCA035523KCNH2n.3769A>G
c.2936A>G (p.Lys979Arg)
c.1916A>G (p.Lys639Arg)
c.2636A>G (p.Lys879Arg)
c.*16A>G (n.*16A>G)
c.2786A>G (p.Lys929Arg)
c.2759A>G (p.Lys920Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947635T>GCA369853098KCNH2n.3769A>C
c.2936A>C (p.Lys979Thr)
c.1916A>C (p.Lys639Thr)
c.2636A>C (p.Lys879Thr)
c.*16A>C (n.*16A>C)
c.2786A>C (p.Lys929Thr)
c.2759A>C (p.Lys920Thr)
7g.150947635T=CA1752429832KCNH2n.3769A=
c.2936A= (p.Lys979=)
c.1916A= (p.Lys639=)
c.2636A= (p.Lys879=)
c.*16A= (n.*16A=)
c.2786A= (p.Lys929=)
c.2759A= (p.Lys920=)
7g.150947636T>ACA369853099KCNH2n.3768A>T
c.2935A>T (p.Lys979Ter)
c.1915A>T (p.Lys639Ter)
c.2635A>T (p.Lys879Ter)
c.*15A>T (n.*15A>T)
c.2785A>T (p.Lys929Ter)
c.2758A>T (p.Lys920Ter)
7g.150947636T>CCA369853100KCNH2n.3768A>G
c.2935A>G (p.Lys979Glu)
c.1915A>G (p.Lys639Glu)
c.2635A>G (p.Lys879Glu)
c.*15A>G (n.*15A>G)
c.2785A>G (p.Lys929Glu)
c.2758A>G (p.Lys920Glu)
7g.150947636T>GCA369853101KCNH2n.3768A>C
c.2935A>C (p.Lys979Gln)
c.1915A>C (p.Lys639Gln)
c.2635A>C (p.Lys879Gln)
c.*15A>C (n.*15A>C)
c.2785A>C (p.Lys929Gln)
c.2758A>C (p.Lys920Gln)
7g.150947637C>ACA369853102KCNH2n.3767G>T
c.2934G>T (p.Glu978Asp)
c.1914G>T (p.Glu638Asp)
c.2634G>T (p.Glu878Asp)
c.*14G>T (n.*14G>T)
c.2784G>T (p.Glu928Asp)
c.2757G>T (p.Glu919Asp)
 gnomAD v4
7g.150947637C>GCA369853103KCNH2n.3767G>C
c.2934G>C (p.Glu978Asp)
c.1914G>C (p.Glu638Asp)
c.2634G>C (p.Glu878Asp)
c.*14G>C (n.*14G>C)
c.2784G>C (p.Glu928Asp)
c.2757G>C (p.Glu919Asp)
7g.150947637C>TCA458870808KCNH2n.3767G>A
c.2934G>A (p.Glu978=)
c.1914G>A (p.Glu638=)
c.2634G>A (p.Glu878=)
c.*14G>A (n.*14G>A)
c.2784G>A (p.Glu928=)
c.2757G>A (p.Glu919=)
 ClinVar dbSNP
7g.150947638T>ACA369853106KCNH2n.3766A>T
c.2933A>T (p.Glu978Val)
c.1913A>T (p.Glu638Val)
c.2633A>T (p.Glu878Val)
c.*13A>T (n.*13A>T)
c.2783A>T (p.Glu928Val)
c.2756A>T (p.Glu919Val)
7g.150947638T>CCA369853104KCNH2n.3766A>G
c.2933A>G (p.Glu978Gly)
c.1913A>G (p.Glu638Gly)
c.2633A>G (p.Glu878Gly)
c.*13A>G (n.*13A>G)
c.2783A>G (p.Glu928Gly)
c.2756A>G (p.Glu919Gly)
7g.150947638T>GCA369853105KCNH2n.3766A>C
c.2933A>C (p.Glu978Ala)
c.1913A>C (p.Glu638Ala)
c.2633A>C (p.Glu878Ala)
c.*13A>C (n.*13A>C)
c.2783A>C (p.Glu928Ala)
c.2756A>C (p.Glu919Ala)
7g.150947639C>ACA007657KCNH2n.3765G>T
c.2932G>T (p.Glu978Ter)
c.1912G>T (p.Glu638Ter)
c.2632G>T (p.Glu878Ter)
c.*12G>T (n.*12G>T)
c.2782G>T (p.Glu928Ter)
c.2755G>T (p.Glu919Ter)
 ClinVar dbSNP
7g.150947639C=CA1752429842KCNH2n.3765G=
c.2932G= (p.Glu978=)
c.1912G= (p.Glu638=)
c.2632G= (p.Glu878=)
c.*12G= (n.*12G=)
c.2782G= (p.Glu928=)
c.2755G= (p.Glu919=)
7g.150947639C>GCA369853107KCNH2n.3765G>C
c.2932G>C (p.Glu978Gln)
c.1912G>C (p.Glu638Gln)
c.2632G>C (p.Glu878Gln)
c.*12G>C (n.*12G>C)
c.2782G>C (p.Glu928Gln)
c.2755G>C (p.Glu919Gln)
 ClinVar dbSNP gnomAD v4
7g.150947639C>TCA007646KCNH2n.3765G>A
c.2932G>A (p.Glu978Lys)
c.1912G>A (p.Glu638Lys)
c.2632G>A (p.Glu878Lys)
c.*12G>A (n.*12G>A)
c.2782G>A (p.Glu928Lys)
c.2755G>A (p.Glu919Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947640G>ACA035488KCNH2n.3764C>T
c.2931C>T (p.Cys977=)
c.1911C>T (p.Cys637=)
c.2631C>T (p.Cys877=)
c.*11C>T (n.*11C>T)
c.2781C>T (p.Cys927=)
c.2754C>T (p.Cys918=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947640G>CCA369853108KCNH2n.3764C>G
c.2931C>G (p.Cys977Trp)
c.1911C>G (p.Cys637Trp)
c.2631C>G (p.Cys877Trp)
c.*11C>G (n.*11C>G)
c.2781C>G (p.Cys927Trp)
c.2754C>G (p.Cys918Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947640G=CA1752429855KCNH2n.3764C=
c.2931C= (p.Cys977=)
c.1911C= (p.Cys637=)
c.2631C= (p.Cys877=)
c.*11C= (n.*11C=)
c.2781C= (p.Cys927=)
c.2754C= (p.Cys918=)
7g.150947640G>TCA369853109KCNH2n.3764C>A
c.2931C>A (p.Cys977Ter)
c.1911C>A (p.Cys637Ter)
c.2631C>A (p.Cys877Ter)
c.*11C>A (n.*11C>A)
c.2781C>A (p.Cys927Ter)
c.2754C>A (p.Cys918Ter)
 ClinVar dbSNP
7g.150947703_150947704insCTCCAGGCAGTCCTCCATCAGGGGCTCCCCACCCGGCGGCTCTCCGGGGGGCCTGGGGCTGGAGAAGGGCCA2499218788KCNH2n.3764_3765insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC
c.2931_2932insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu978LeufsTer?)
c.1911_1912insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu638LeufsTer?)
c.2631_2632insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu878LeufsTer?)
c.*11_*12insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC
c.2781_2782insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu928LeufsTer?)
c.2754_2755insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu919LeufsTer?)
 ClinVar
7g.150947641C>ACA035467KCNH2n.3763G>T
c.2930G>T (p.Cys977Phe)
c.1910G>T (p.Cys637Phe)
c.2630G>T (p.Cys877Phe)
c.*10G>T (n.*10G>T)
c.2780G>T (p.Cys927Phe)
c.2753G>T (p.Cys918Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947641C=CA1752429869KCNH2n.3763G=
c.2930G= (p.Cys977=)
c.1910G= (p.Cys637=)
c.2630G= (p.Cys877=)
c.*10G= (n.*10G=)
c.2780G= (p.Cys927=)
c.2753G= (p.Cys918=)
7g.150947641C>GCA369853110KCNH2n.3763G>C
c.2930G>C (p.Cys977Ser)
c.1910G>C (p.Cys637Ser)
c.2630G>C (p.Cys877Ser)
c.*10G>C (n.*10G>C)
c.2780G>C (p.Cys927Ser)
c.2753G>C (p.Cys918Ser)
 dbSNP gnomAD v3 gnomAD v4
7g.150947641C>TCA369853111KCNH2n.3763G>A
c.2930G>A (p.Cys977Tyr)
c.1910G>A (p.Cys637Tyr)
c.2630G>A (p.Cys877Tyr)
c.*10G>A (n.*10G>A)
c.2780G>A (p.Cys927Tyr)
c.2753G>A (p.Cys918Tyr)
7g.150947642A>CCA369853112KCNH2n.3762T>G
c.2929T>G (p.Cys977Gly)
c.1909T>G (p.Cys637Gly)
c.2629T>G (p.Cys877Gly)
c.*9T>G (n.*9T>G)
c.2779T>G (p.Cys927Gly)
c.2752T>G (p.Cys918Gly)
 gnomAD v4
7g.150947642A>GCA369853113KCNH2n.3762T>C
c.2929T>C (p.Cys977Arg)
c.1909T>C (p.Cys637Arg)
c.2629T>C (p.Cys877Arg)
c.*9T>C (n.*9T>C)
c.2779T>C (p.Cys927Arg)
c.2752T>C (p.Cys918Arg)
 gnomAD v4
7g.150947642A>TCA369853114KCNH2n.3762T>A
c.2929T>A (p.Cys977Ser)
c.1909T>A (p.Cys637Ser)
c.2629T>A (p.Cys877Ser)
c.*9T>A (n.*9T>A)
c.2779T>A (p.Cys927Ser)
c.2752T>A (p.Cys918Ser)
7g.150947643G>ACA458870822KCNH2n.3761C>T
c.2928C>T (p.Asp976=)
c.1908C>T (p.Asp636=)
c.2628C>T (p.Asp876=)
c.*8C>T (n.*8C>T)
c.2778C>T (p.Asp926=)
c.2751C>T (p.Asp917=)
7g.150947643G>CCA369853115KCNH2n.3761C>G
c.2928C>G (p.Asp976Glu)
c.1908C>G (p.Asp636Glu)
c.2628C>G (p.Asp876Glu)
c.*8C>G (n.*8C>G)
c.2778C>G (p.Asp926Glu)
c.2751C>G (p.Asp917Glu)
7g.150947643G>TCA369853116KCNH2n.3761C>A
c.2928C>A (p.Asp976Glu)
c.1908C>A (p.Asp636Glu)
c.2628C>A (p.Asp876Glu)
c.*8C>A (n.*8C>A)
c.2778C>A (p.Asp926Glu)
c.2751C>A (p.Asp917Glu)
7g.150947644delCA16609637KCNH2n.3760del
c.2927del (p.Asp976AlafsTer?)
c.1907del (p.Asp636AlafsTer?)
c.2627del (p.Asp876AlafsTer?)
c.*7del (n.*7del)
c.2777del (p.Asp926AlafsTer?)
c.2750del (p.Asp917AlafsTer?)
 ClinVar
7g.150947644T>ACA369853117KCNH2n.3760A>T
c.2927A>T (p.Asp976Val)
c.1907A>T (p.Asp636Val)
c.2627A>T (p.Asp876Val)
c.*7A>T (n.*7A>T)
c.2777A>T (p.Asp926Val)
c.2750A>T (p.Asp917Val)
7g.150947644T>CCA369853119KCNH2n.3760A>G
c.2927A>G (p.Asp976Gly)
c.1907A>G (p.Asp636Gly)
c.2627A>G (p.Asp876Gly)
c.*7A>G (n.*7A>G)
c.2777A>G (p.Asp926Gly)
c.2750A>G (p.Asp917Gly)
7g.150947644T>GCA369853118KCNH2n.3760A>C
c.2927A>C (p.Asp976Ala)
c.1907A>C (p.Asp636Ala)
c.2627A>C (p.Asp876Ala)
c.*7A>C (n.*7A>C)
c.2777A>C (p.Asp926Ala)
c.2750A>C (p.Asp917Ala)
7g.150947647_150947649delCA2580614284KCNH2n.3758_3760del
c.2925_2927del (p.Glu975del)
c.1905_1907del (p.Glu635del)
c.2625_2627del (p.Glu875del)
c.*5_*7del (n.*5_*7del)
c.2775_2777del (p.Glu925del)
c.2748_2750del (p.Glu916del)
 ClinVar
7g.150947645C>ACA369853120KCNH2n.3759G>T
c.2926G>T (p.Asp976Tyr)
c.1906G>T (p.Asp636Tyr)
c.2626G>T (p.Asp876Tyr)
c.*6G>T (n.*6G>T)
c.2776G>T (p.Asp926Tyr)
c.2749G>T (p.Asp917Tyr)
 gnomAD v4
7g.150947645C=CA1752429873KCNH2n.3759G=
c.2926G= (p.Asp976=)
c.1906G= (p.Asp636=)
c.2626G= (p.Asp876=)
c.*6G= (n.*6G=)
c.2776G= (p.Asp926=)
c.2749G= (p.Asp917=)
7g.150947645C>GCA369853121KCNH2n.3759G>C
c.2926G>C (p.Asp976His)
c.1906G>C (p.Asp636His)
c.2626G>C (p.Asp876His)
c.*6G>C (n.*6G>C)
c.2776G>C (p.Asp926His)
c.2749G>C (p.Asp917His)
7g.150947645C>TCA369853122KCNH2n.3759G>A
c.2926G>A (p.Asp976Asn)
c.1906G>A (p.Asp636Asn)
c.2626G>A (p.Asp876Asn)
c.*6G>A (n.*6G>A)
c.2776G>A (p.Asp926Asn)
c.2749G>A (p.Asp917Asn)
 ClinVar dbSNP gnomAD v4
7g.150947646delCA2579062861KCNH2n.3759del
c.2926del (p.Asp976ThrfsTer?)
c.1906del (p.Asp636ThrfsTer?)
c.2626del (p.Asp876ThrfsTer?)
c.*6del (n.*6del)
c.2776del (p.Asp926ThrfsTer?)
c.2749del (p.Asp917ThrfsTer?)
7g.150947646C>ACA369853123KCNH2n.3758G>T
c.2925G>T (p.Glu975Asp)
c.1905G>T (p.Glu635Asp)
c.2625G>T (p.Glu875Asp)
c.*5G>T (n.*5G>T)
c.2775G>T (p.Glu925Asp)
c.2748G>T (p.Glu916Asp)
7g.150947646C=CA1752429877KCNH2n.3758G=
c.2925G= (p.Glu975=)
c.1905G= (p.Glu635=)
c.2625G= (p.Glu875=)
c.*5G= (n.*5G=)
c.2775G= (p.Glu925=)
c.2748G= (p.Glu916=)
7g.150947646C>GCA369853124KCNH2n.3758G>C
c.2925G>C (p.Glu975Asp)
c.1905G>C (p.Glu635Asp)
c.2625G>C (p.Glu875Asp)
c.*5G>C (n.*5G>C)
c.2775G>C (p.Glu925Asp)
c.2748G>C (p.Glu916Asp)
7g.150947646C>TCA458870825KCNH2n.3758G>A
c.2925G>A (p.Glu975=)
c.1905G>A (p.Glu635=)
c.2625G>A (p.Glu875=)
c.*5G>A (n.*5G>A)
c.2775G>A (p.Glu925=)
c.2748G>A (p.Glu916=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947647T>ACA369853125KCNH2n.3757A>T
c.2924A>T (p.Glu975Val)
c.1904A>T (p.Glu635Val)
c.2624A>T (p.Glu875Val)
c.*4A>T (n.*4A>T)
c.2774A>T (p.Glu925Val)
c.2747A>T (p.Glu916Val)
7g.150947647T>CCA369853126KCNH2n.3757A>G
c.2924A>G (p.Glu975Gly)
c.1904A>G (p.Glu635Gly)
c.2624A>G (p.Glu875Gly)
c.*4A>G (n.*4A>G)
c.2774A>G (p.Glu925Gly)
c.2747A>G (p.Glu916Gly)
 gnomAD v4
7g.150947647T>GCA369853127KCNH2n.3757A>C
c.2924A>C (p.Glu975Ala)
c.1904A>C (p.Glu635Ala)
c.2624A>C (p.Glu875Ala)
c.*4A>C (n.*4A>C)
c.2774A>C (p.Glu925Ala)
c.2747A>C (p.Glu916Ala)
7g.150947648C>ACA169072409KCNH2n.3756G>T
c.2923G>T (p.Glu975Ter)
c.1903G>T (p.Glu635Ter)
c.2623G>T (p.Glu875Ter)
c.*3G>T (n.*3G>T)
c.2773G>T (p.Glu925Ter)
c.2746G>T (p.Glu916Ter)
 dbSNP
7g.150947648C=CA1752429880KCNH2n.3756G=
c.2923G= (p.Glu975=)
c.1903G= (p.Glu635=)
c.2623G= (p.Glu875=)
c.*3G= (n.*3G=)
c.2773G= (p.Glu925=)
c.2746G= (p.Glu916=)
7g.150947648C>GCA369853128KCNH2n.3756G>C
c.2923G>C (p.Glu975Gln)
c.1903G>C (p.Glu635Gln)
c.2623G>C (p.Glu875Gln)
c.*3G>C (n.*3G>C)
c.2773G>C (p.Glu925Gln)
c.2746G>C (p.Glu916Gln)
7g.150947648C>TCA369853129KCNH2n.3756G>A
c.2923G>A (p.Glu975Lys)
c.1903G>A (p.Glu635Lys)
c.2623G>A (p.Glu875Lys)
c.*3G>A (n.*3G>A)
c.2773G>A (p.Glu925Lys)
c.2746G>A (p.Glu916Lys)
7g.150947649C>ACA369853130KCNH2n.3755G>T
c.2922G>T (p.Met974Ile)
c.1902G>T (p.Met634Ile)
c.2622G>T (p.Met874Ile)
c.*2G>T (n.*2G>T)
c.2772G>T (p.Met924Ile)
c.2745G>T (p.Met915Ile)
7g.150947649C>GCA369853132KCNH2n.3755G>C
c.2922G>C (p.Met974Ile)
c.1902G>C (p.Met634Ile)
c.2622G>C (p.Met874Ile)
c.*2G>C (n.*2G>C)
c.2772G>C (p.Met924Ile)
c.2745G>C (p.Met915Ile)
7g.150947649C>TCA369853131KCNH2n.3755G>A
c.2922G>A (p.Met974Ile)
c.1902G>A (p.Met634Ile)
c.2622G>A (p.Met874Ile)
c.*2G>A (n.*2G>A)
c.2772G>A (p.Met924Ile)
c.2745G>A (p.Met915Ile)
7g.150947650A>CCA369853133KCNH2n.3754T>G
c.2921T>G (p.Met974Arg)
c.1901T>G (p.Met634Arg)
c.2621T>G (p.Met874Arg)
c.*1T>G (n.*1T>G)
c.2771T>G (p.Met924Arg)
c.2744T>G (p.Met915Arg)
7g.150947650A>GCA369853135KCNH2n.3754T>C
c.2921T>C (p.Met974Thr)
c.1901T>C (p.Met634Thr)
c.2621T>C (p.Met874Thr)
c.*1T>C (n.*1T>C)
c.2771T>C (p.Met924Thr)
c.2744T>C (p.Met915Thr)
 gnomAD v3 gnomAD v4
7g.150947650A>TCA369853134KCNH2n.3754T>A
c.2921T>A (p.Met974Lys)
c.1901T>A (p.Met634Lys)
c.2621T>A (p.Met874Lys)
c.*1T>A (n.*1T>A)
c.2771T>A (p.Met924Lys)
c.2744T>A (p.Met915Lys)
7g.150947651T>ACA369853136KCNH2n.3753A>T
c.2920A>T (p.Met974Leu)
c.1900A>T (p.Met634Leu)
c.2620A>T (p.Met874Leu)
c.2733A>T (p.Ter911Cys)
c.2770A>T (p.Met924Leu)
c.2743A>T (p.Met915Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947651T>CCA369853137KCNH2n.3753A>G
c.2920A>G (p.Met974Val)
c.1900A>G (p.Met634Val)
c.2620A>G (p.Met874Val)
c.2733A>G (p.Ter911Trp)
c.2770A>G (p.Met924Val)
c.2743A>G (p.Met915Val)
7g.150947651T>GCA369853138KCNH2n.3753A>C
c.2920A>C (p.Met974Leu)
c.1900A>C (p.Met634Leu)
c.2620A>C (p.Met874Leu)
c.2733A>C (p.Ter911Cys)
c.2770A>C (p.Met924Leu)
c.2743A>C (p.Met915Leu)
7g.150947651T=CA1752429886KCNH2n.3753A=
c.2920A= (p.Met974=)
c.1900A= (p.Met634=)
c.2620A= (p.Met874=)
c.2733A= (p.Ter911=)
c.2770A= (p.Met924=)
c.2743A= (p.Met915=)
7g.150947652C>ACA458870833KCNH2n.3752G>T
c.2919G>T (p.Leu973=)
c.1899G>T (p.Leu633=)
c.2619G>T (p.Leu873=)
c.2732G>T (p.Ter911Leu)
c.2769G>T (p.Leu923=)
c.2742G>T (p.Leu914=)
 ClinVar dbSNP gnomAD v4
7g.150947652C>GCA458870836KCNH2n.3752G>C
c.2919G>C (p.Leu973=)
c.1899G>C (p.Leu633=)
c.2619G>C (p.Leu873=)
c.2732G>C (p.Ter911Ser)
c.2769G>C (p.Leu923=)
c.2742G>C (p.Leu914=)
7g.150947652C>TCA458870838KCNH2n.3752G>A
c.2919G>A (p.Leu973=)
c.1899G>A (p.Leu633=)
c.2619G>A (p.Leu873=)
c.2732G>A (p.Ter911=)
c.2769G>A (p.Leu923=)
c.2742G>A (p.Leu914=)
7g.150947652_150947653delinsCACA1752429890KCNH2n.3751_3752delinsTG
c.2918_2919delinsTG (p.Leu973=)
c.1898_1899delinsTG (p.Leu633=)
c.2618_2619delinsTG (p.Leu873=)
c.2731_2732delinsTG (p.Ter911=)
c.2768_2769delinsTG (p.Leu923=)
c.2741_2742delinsTG (p.Leu914=)
7g.150947653delCA916080378KCNH2n.3751del
c.2918del (p.Leu973ArgfsTer?)
c.1898del (p.Leu633ArgfsTer?)
c.2618del (p.Leu873ArgfsTer?)
c.2731del (p.Ter911AspextTer?)
c.2768del (p.Leu923ArgfsTer?)
c.2741del (p.Leu914ArgfsTer?)
 ClinVar dbSNP gnomAD v4
7g.150947653A=CA1752429894KCNH2n.3751T=
c.2918T= (p.Leu973=)
c.1898T= (p.Leu633=)
c.2618T= (p.Leu873=)
c.2731T= (p.Ter911=)
c.2768T= (p.Leu923=)
c.2741T= (p.Leu914=)
7g.150947653A>CCA369853139KCNH2n.3751T>G
c.2918T>G (p.Leu973Arg)
c.1898T>G (p.Leu633Arg)
c.2618T>G (p.Leu873Arg)
c.2731T>G (p.Ter911Gly)
c.2768T>G (p.Leu923Arg)
c.2741T>G (p.Leu914Arg)
7g.150947653A>GCA369853140KCNH2n.3751T>C
c.2918T>C (p.Leu973Pro)
c.1898T>C (p.Leu633Pro)
c.2618T>C (p.Leu873Pro)
c.2731T>C (p.Ter911Arg)
c.2768T>C (p.Leu923Pro)
c.2741T>C (p.Leu914Pro)
7g.150947653A>TCA369853141KCNH2n.3751T>A
c.2918T>A (p.Leu973Gln)
c.1898T>A (p.Leu633Gln)
c.2618T>A (p.Leu873Gln)
c.2731T>A (p.Ter911Arg)
c.2768T>A (p.Leu923Gln)
c.2741T>A (p.Leu914Gln)
7g.150947654G>ACA458870841KCNH2n.3750C>T
c.2917C>T (p.Leu973=)
c.1897C>T (p.Leu633=)
c.2617C>T (p.Leu873=)
c.2730C>T (p.Pro910=)
c.2767C>T (p.Leu923=)
c.2740C>T (p.Leu914=)
 dbSNP gnomAD v2
7g.150947654G>CCA369853142KCNH2n.3750C>G
c.2917C>G (p.Leu973Val)
c.1897C>G (p.Leu633Val)
c.2617C>G (p.Leu873Val)
c.2730C>G (p.Pro910=)
c.2767C>G (p.Leu923Val)
c.2740C>G (p.Leu914Val)
7g.150947654G=CA1752429900KCNH2n.3750C=
c.2917C= (p.Leu973=)
c.1897C= (p.Leu633=)
c.2617C= (p.Leu873=)
c.2730C= (p.Pro910=)
c.2767C= (p.Leu923=)
c.2740C= (p.Leu914=)
7g.150947654G>TCA369853143KCNH2n.3750C>A
c.2917C>A (p.Leu973Met)
c.1897C>A (p.Leu633Met)
c.2617C>A (p.Leu873Met)
c.2730C>A (p.Pro910=)
c.2767C>A (p.Leu923Met)
c.2740C>A (p.Leu914Met)
 gnomAD v4
7g.150947656_150947657dupCA305333KCNH2n.3749_3750dup
c.2916_2917dup (p.Leu973ProfsTer2)
c.1896_1897dup (p.Leu633ProfsTer2)
c.2616_2617dup (p.Leu873ProfsTer2)
c.2729_2730dup (p.Ter911ProextTer?)
c.2766_2767dup (p.Leu923ProfsTer2)
c.2739_2740dup (p.Leu914ProfsTer2)
 ClinVar dbSNP
7g.150947657delCA2579062864KCNH2n.3750del
c.2917del (p.Leu973Ter)
c.1897del (p.Leu633Ter)
c.2617del (p.Leu873Ter)
c.2730del (p.Ter911AspextTer?)
c.2767del (p.Leu923Ter)
c.2740del (p.Leu914Ter)
7g.150947655G>ACA458870844KCNH2n.3749C>T
c.2916C>T (p.Pro972=)
c.1896C>T (p.Pro632=)
c.2616C>T (p.Pro872=)
c.2729C>T (p.Pro910Leu)
c.2766C>T (p.Pro922=)
c.2739C>T (p.Pro913=)
 ClinVar dbSNP gnomAD v4
7g.150947655G>CCA458870846KCNH2n.3749C>G
c.2916C>G (p.Pro972=)
c.1896C>G (p.Pro632=)
c.2616C>G (p.Pro872=)
c.2729C>G (p.Pro910Arg)
c.2766C>G (p.Pro922=)
c.2739C>G (p.Pro913=)
7g.150947655G=CA1752429904KCNH2n.3749C=
c.2916C= (p.Pro972=)
c.1896C= (p.Pro632=)
c.2616C= (p.Pro872=)
c.2729C= (p.Pro910=)
c.2766C= (p.Pro922=)
c.2739C= (p.Pro913=)
7g.150947655G>TCA458870847KCNH2n.3749C>A
c.2916C>A (p.Pro972=)
c.1896C>A (p.Pro632=)
c.2616C>A (p.Pro872=)
c.2729C>A (p.Pro910His)
c.2766C>A (p.Pro922=)
c.2739C>A (p.Pro913=)
7g.150947656G>ACA369853146KCNH2n.3748C>T
c.2915C>T (p.Pro972Leu)
c.1895C>T (p.Pro632Leu)
c.2615C>T (p.Pro872Leu)
c.2728C>T (p.Pro910Ser)
c.2765C>T (p.Pro922Leu)
c.2738C>T (p.Pro913Leu)
 gnomAD v4
7g.150947656G>CCA369853145KCNH2n.3748C>G
c.2915C>G (p.Pro972Arg)
c.1895C>G (p.Pro632Arg)
c.2615C>G (p.Pro872Arg)
c.2728C>G (p.Pro910Ala)
c.2765C>G (p.Pro922Arg)
c.2738C>G (p.Pro913Arg)
 gnomAD v4
7g.150947656G=CA1752429907KCNH2n.3748C=
c.2915C= (p.Pro972=)
c.1895C= (p.Pro632=)
c.2615C= (p.Pro872=)
c.2728C= (p.Pro910=)
c.2765C= (p.Pro922=)
c.2738C= (p.Pro913=)
7g.150947656G>TCA369853144KCNH2n.3748C>A
c.2915C>A (p.Pro972His)
c.1895C>A (p.Pro632His)
c.2615C>A (p.Pro872His)
c.2728C>A (p.Pro910Thr)
c.2765C>A (p.Pro922His)
c.2738C>A (p.Pro913His)
 dbSNP gnomAD v2 gnomAD v4
7g.150947657G>ACA369853147KCNH2n.3747C>T
c.2914C>T (p.Pro972Ser)
c.1894C>T (p.Pro632Ser)
c.2614C>T (p.Pro872Ser)
c.2727C>T (p.Ser909=)
c.2764C>T (p.Pro922Ser)
c.2737C>T (p.Pro913Ser)
 gnomAD v3 gnomAD v4
7g.150947657G>CCA369853148KCNH2n.3747C>G
c.2914C>G (p.Pro972Ala)
c.1894C>G (p.Pro632Ala)
c.2614C>G (p.Pro872Ala)
c.2727C>G (p.Ser909Arg)
c.2764C>G (p.Pro922Ala)
c.2737C>G (p.Pro913Ala)
7g.150947657G>TCA369853149KCNH2n.3747C>A
c.2914C>A (p.Pro972Thr)
c.1894C>A (p.Pro632Thr)
c.2614C>A (p.Pro872Thr)
c.2727C>A (p.Ser909Arg)
c.2764C>A (p.Pro922Thr)
c.2737C>A (p.Pro913Thr)
 ClinVar gnomAD v4
7g.150947658C>ACA369853150KCNH2n.3746G>T
c.2913G>T (p.Glu971Asp)
c.1893G>T (p.Glu631Asp)
c.2613G>T (p.Glu871Asp)
c.2726G>T (p.Ser909Ile)
c.2763G>T (p.Glu921Asp)
c.2736G>T (p.Glu912Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947658C=CA1752429912KCNH2n.3746G=
c.2913G= (p.Glu971=)
c.1893G= (p.Glu631=)
c.2613G= (p.Glu871=)
c.2726G= (p.Ser909=)
c.2763G= (p.Glu921=)
c.2736G= (p.Glu912=)
7g.150947658C>GCA369853151KCNH2n.3746G>C
c.2913G>C (p.Glu971Asp)
c.1893G>C (p.Glu631Asp)
c.2613G>C (p.Glu871Asp)
c.2726G>C (p.Ser909Thr)
c.2763G>C (p.Glu921Asp)
c.2736G>C (p.Glu912Asp)
7g.150947658C>TCA458870852KCNH2n.3746G>A
c.2913G>A (p.Glu971=)
c.1893G>A (p.Glu631=)
c.2613G>A (p.Glu871=)
c.2726G>A (p.Ser909Asn)
c.2763G>A (p.Glu921=)
c.2736G>A (p.Glu912=)
 ClinVar dbSNP
7g.150947659T>ACA369853152KCNH2n.3745A>T
c.2912A>T (p.Glu971Val)
c.1892A>T (p.Glu631Val)
c.2612A>T (p.Glu871Val)
c.2725A>T (p.Ser909Cys)
c.2762A>T (p.Glu921Val)
c.2735A>T (p.Glu912Val)
7g.150947659T>CCA369853153KCNH2n.3745A>G
c.2912A>G (p.Glu971Gly)
c.1892A>G (p.Glu631Gly)
c.2612A>G (p.Glu871Gly)
c.2725A>G (p.Ser909Gly)
c.2762A>G (p.Glu921Gly)
c.2735A>G (p.Glu912Gly)
7g.150947659T>GCA369853154KCNH2n.3745A>C
c.2912A>C (p.Glu971Ala)
c.1892A>C (p.Glu631Ala)
c.2612A>C (p.Glu871Ala)
c.2725A>C (p.Ser909Arg)
c.2762A>C (p.Glu921Ala)
c.2735A>C (p.Glu912Ala)
7g.150947660C>ACA369853155KCNH2n.3744G>T
c.2911G>T (p.Glu971Ter)
c.1891G>T (p.Glu631Ter)
c.2611G>T (p.Glu871Ter)
c.2724G>T (p.Gly908=)
c.2761G>T (p.Glu921Ter)
c.2734G>T (p.Glu912Ter)
 gnomAD v4
7g.150947660C=CA1752429915KCNH2n.3744G=
c.2911G= (p.Glu971=)
c.1891G= (p.Glu631=)
c.2611G= (p.Glu871=)
c.2724G= (p.Gly908=)
c.2761G= (p.Glu921=)
c.2734G= (p.Glu912=)
7g.150947660C>GCA369853156KCNH2n.3744G>C
c.2911G>C (p.Glu971Gln)
c.1891G>C (p.Glu631Gln)
c.2611G>C (p.Glu871Gln)
c.2724G>C (p.Gly908=)
c.2761G>C (p.Glu921Gln)
c.2734G>C (p.Glu912Gln)
7g.150947660C>TCA369853157KCNH2n.3744G>A
c.2911G>A (p.Glu971Lys)
c.1891G>A (p.Glu631Lys)
c.2611G>A (p.Glu871Lys)
c.2724G>A (p.Gly908=)
c.2761G>A (p.Glu921Lys)
c.2734G>A (p.Glu912Lys)
 ClinVar dbSNP gnomAD v4
7g.150947661C>ACA458870859KCNH2n.3743G>T
c.2910G>T (p.Gly970=)
c.1890G>T (p.Gly630=)
c.2610G>T (p.Gly870=)
c.2723G>T (p.Gly908Val)
c.2760G>T (p.Gly920=)
c.2733G>T (p.Gly911=)
7g.150947661C>GCA458870860KCNH2n.3743G>C
c.2910G>C (p.Gly970=)
c.1890G>C (p.Gly630=)
c.2610G>C (p.Gly870=)
c.2723G>C (p.Gly908Ala)
c.2760G>C (p.Gly920=)
c.2733G>C (p.Gly911=)
7g.150947661C>TCA458870861KCNH2n.3743G>A
c.2910G>A (p.Gly970=)
c.1890G>A (p.Gly630=)
c.2610G>A (p.Gly870=)
c.2723G>A (p.Gly908Glu)
c.2760G>A (p.Gly920=)
c.2733G>A (p.Gly911=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
7g.150947662C>ACA369853159KCNH2n.3742G>T
c.2909G>T (p.Gly970Val)
c.1889G>T (p.Gly630Val)
c.2609G>T (p.Gly870Val)
c.2722G>T (p.Gly908Trp)
c.2759G>T (p.Gly920Val)
c.2732G>T (p.Gly911Val)
 gnomAD v4
7g.150947662C=CA1752429917KCNH2n.3742G=
c.2909G= (p.Gly970=)
c.1889G= (p.Gly630=)
c.2609G= (p.Gly870=)
c.2722G= (p.Gly908=)
c.2759G= (p.Gly920=)
c.2732G= (p.Gly911=)
7g.150947662C>GCA369853160KCNH2n.3742G>C
c.2909G>C (p.Gly970Ala)
c.1889G>C (p.Gly630Ala)
c.2609G>C (p.Gly870Ala)
c.2722G>C (p.Gly908Arg)
c.2759G>C (p.Gly920Ala)
c.2732G>C (p.Gly911Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947662C>TCA369853158KCNH2n.3742G>A
c.2909G>A (p.Gly970Glu)
c.1889G>A (p.Gly630Glu)
c.2609G>A (p.Gly870Glu)
c.2722G>A (p.Gly908Arg)
c.2759G>A (p.Gly920Glu)
c.2732G>A (p.Gly911Glu)
 ClinVar
7g.150947664_150947678delCA2685602121KCNH2n.3728_3742del
c.2895_2909del (p.Glu966_Gly970del)
c.1875_1889del (p.Glu626_Gly630del)
c.2595_2609del (p.Glu866_Gly870del)
c.2708_2722del (p.Glu903_Val907del)
c.2745_2759del (p.Glu916_Gly920del)
c.2718_2732del (p.Glu907_Gly911del)
 gnomAD v4
7g.150947663C>ACA369853161KCNH2n.3741G>T
c.2908G>T (p.Gly970Trp)
c.1888G>T (p.Gly630Trp)
c.2608G>T (p.Gly870Trp)
c.2721G>T (p.Val907=)
c.2758G>T (p.Gly920Trp)
c.2731G>T (p.Gly911Trp)
7g.150947663C=CA1752429921KCNH2n.3741G=
c.2908G= (p.Gly970=)
c.1888G= (p.Gly630=)
c.2608G= (p.Gly870=)
c.2721G= (p.Val907=)
c.2758G= (p.Gly920=)
c.2731G= (p.Gly911=)
7g.150947663C>GCA369853162KCNH2n.3741G>C
c.2908G>C (p.Gly970Arg)
c.1888G>C (p.Gly630Arg)
c.2608G>C (p.Gly870Arg)
c.2721G>C (p.Val907=)
c.2758G>C (p.Gly920Arg)
c.2731G>C (p.Gly911Arg)
7g.150947663C>TCA369853163KCNH2n.3741G>A
c.2908G>A (p.Gly970Arg)
c.1888G>A (p.Gly630Arg)
c.2608G>A (p.Gly870Arg)
c.2721G>A (p.Val907=)
c.2758G>A (p.Gly920Arg)
c.2731G>A (p.Gly911Arg)
 ClinVar dbSNP gnomAD v4
7g.150947664A>CCA458870868KCNH2n.3740T>G
c.2907T>G (p.Gly969=)
c.1887T>G (p.Gly629=)
c.2607T>G (p.Gly869=)
c.2720T>G (p.Val907Gly)
c.2757T>G (p.Gly919=)
c.2730T>G (p.Gly910=)
7g.150947664A>GCA458870875KCNH2n.3740T>C
c.2907T>C (p.Gly969=)
c.1887T>C (p.Gly629=)
c.2607T>C (p.Gly869=)
c.2720T>C (p.Val907Ala)
c.2757T>C (p.Gly919=)
c.2730T>C (p.Gly910=)
7g.150947664A>TCA458870869KCNH2n.3740T>A
c.2907T>A (p.Gly969=)
c.1887T>A (p.Gly629=)
c.2607T>A (p.Gly869=)
c.2720T>A (p.Val907Glu)
c.2757T>A (p.Gly919=)
c.2730T>A (p.Gly910=)
7g.150947664_150947665delinsACCA1752429924KCNH2n.3739_3740delinsGT
c.2906_2907delinsGT (p.Gly969=)
c.1886_1887delinsGT (p.Gly629=)
c.2606_2607delinsGT (p.Gly869=)
c.2719_2720delinsGT (p.Val907=)
c.2756_2757delinsGT (p.Gly919=)
c.2729_2730delinsGT (p.Gly910=)
7g.150947665C>ACA369853164KCNH2n.3739G>T
c.2906G>T (p.Gly969Val)
c.1886G>T (p.Gly629Val)
c.2606G>T (p.Gly869Val)
c.2719G>T (p.Val907Leu)
c.2756G>T (p.Gly919Val)
c.2729G>T (p.Gly910Val)
 ClinVar dbSNP gnomAD v4
7g.150947665C=CA1752429936KCNH2n.3739G=
c.2906G= (p.Gly969=)
c.1886G= (p.Gly629=)
c.2606G= (p.Gly869=)
c.2719G= (p.Val907=)
c.2756G= (p.Gly919=)
c.2729G= (p.Gly910=)
7g.150947665C>GCA369853165KCNH2n.3739G>C
c.2906G>C (p.Gly969Ala)
c.1886G>C (p.Gly629Ala)
c.2606G>C (p.Gly869Ala)
c.2719G>C (p.Val907Leu)
c.2756G>C (p.Gly919Ala)
c.2729G>C (p.Gly910Ala)
7g.150947665C>TCA035445KCNH2n.3739G>A
c.2906G>A (p.Gly969Asp)
c.1886G>A (p.Gly629Asp)
c.2606G>A (p.Gly869Asp)
c.2719G>A (p.Val907Met)
c.2756G>A (p.Gly919Asp)
c.2729G>A (p.Gly910Asp)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
7g.150947667delCA007627KCNH2n.3739del
c.2906del (p.Gly969ValfsTer5)
c.1886del (p.Gly629ValfsTer5)
c.2606del (p.Gly869ValfsTer5)
c.2719del (p.Val907TrpfsTer?)
c.2756del (p.Gly919ValfsTer5)
c.2729del (p.Gly910ValfsTer5)
 ClinVar dbSNP
7g.150947666C>ACA369853166KCNH2n.3738G>T
c.2905G>T (p.Gly969Cys)
c.1885G>T (p.Gly629Cys)
c.2605G>T (p.Gly869Cys)
c.2718G>T (p.Arg906=)
c.2755G>T (p.Gly919Cys)
c.2728G>T (p.Gly910Cys)
7g.150947666C>GCA369853168KCNH2n.3738G>C
c.2905G>C (p.Gly969Arg)
c.1885G>C (p.Gly629Arg)
c.2605G>C (p.Gly869Arg)
c.2718G>C (p.Arg906=)
c.2755G>C (p.Gly919Arg)
c.2728G>C (p.Gly910Arg)
7g.150947666C>TCA369853167KCNH2n.3738G>A
c.2905G>A (p.Gly969Ser)
c.1885G>A (p.Gly629Ser)
c.2605G>A (p.Gly869Ser)
c.2718G>A (p.Arg906=)
c.2755G>A (p.Gly919Ser)
c.2728G>A (p.Gly910Ser)
 gnomAD v4
7g.150947670_150947680delCA658761317KCNH2n.3728_3738del
c.2895_2905del (p.Glu966TrpfsTer?)
c.1875_1885del (p.Glu626TrpfsTer?)
c.2595_2605del (p.Glu866TrpfsTer?)
c.2708_2718del (p.Glu903GlyfsTer?)
c.2745_2755del (p.Glu916TrpfsTer?)
c.2718_2728del (p.Glu907TrpfsTer?)
7g.150947667C>ACA458870884KCNH2n.3737G>T
c.2904G>T (p.Pro968=)
c.1884G>T (p.Pro628=)
c.2604G>T (p.Pro868=)
c.2717G>T (p.Arg906Leu)
c.2754G>T (p.Pro918=)
c.2727G>T (p.Pro909=)
 gnomAD v4
7g.150947667C=CA1752429942KCNH2n.3737G=
c.2904G= (p.Pro968=)
c.1884G= (p.Pro628=)
c.2604G= (p.Pro868=)
c.2717G= (p.Arg906=)
c.2754G= (p.Pro918=)
c.2727G= (p.Pro909=)
7g.150947667C>GCA458870886KCNH2n.3737G>C
c.2904G>C (p.Pro968=)
c.1884G>C (p.Pro628=)
c.2604G>C (p.Pro868=)
c.2717G>C (p.Arg906Pro)
c.2754G>C (p.Pro918=)
c.2727G>C (p.Pro909=)
7g.150947667C>TCA007621KCNH2n.3737G>A
c.2904G>A (p.Pro968=)
c.1884G>A (p.Pro628=)
c.2604G>A (p.Pro868=)
c.2717G>A (p.Arg906Gln)
c.2754G>A (p.Pro918=)
c.2727G>A (p.Pro909=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947671_150947673dupCA2685602122KCNH2n.3735_3737dup
c.2902_2904dup (p.Pro968_Gly969insPro)
c.1882_1884dup (p.Pro628_Gly629insPro)
c.2602_2604dup (p.Pro868_Gly869insPro)
c.2715_2717dup (p.Arg906_Val907insArg)
c.2752_2754dup (p.Pro918_Gly919insPro)
c.2725_2727dup (p.Pro909_Gly910insPro)
 gnomAD v4
7g.150947668G>ACA007612KCNH2n.3736C>T
c.2903C>T (p.Pro968Leu)
c.1883C>T (p.Pro628Leu)
c.2603C>T (p.Pro868Leu)
c.2716C>T (p.Arg906Trp)
c.2753C>T (p.Pro918Leu)
c.2726C>T (p.Pro909Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947668G>CCA369853169KCNH2n.3736C>G
c.2903C>G (p.Pro968Arg)
c.1883C>G (p.Pro628Arg)
c.2603C>G (p.Pro868Arg)
c.2716C>G (p.Arg906Gly)
c.2753C>G (p.Pro918Arg)
c.2726C>G (p.Pro909Arg)
7g.150947668G=CA1752429952KCNH2n.3736C=
c.2903C= (p.Pro968=)
c.1883C= (p.Pro628=)
c.2603C= (p.Pro868=)
c.2716C= (p.Arg906=)
c.2753C= (p.Pro918=)
c.2726C= (p.Pro909=)
7g.150947668G>TCA369853170KCNH2n.3736C>A
c.2903C>A (p.Pro968Gln)
c.1883C>A (p.Pro628Gln)
c.2603C>A (p.Pro868Gln)
c.2716C>A (p.Arg906=)
c.2753C>A (p.Pro918Gln)
c.2726C>A (p.Pro909Gln)
7g.150947669dupCA2580077738KCNH2n.3736dup
c.2903dup (p.Gly970TrpfsTer?)
c.1883dup (p.Gly630TrpfsTer?)
c.2603dup (p.Gly870TrpfsTer?)
c.2716dup (p.Arg906ProfsTer?)
c.2753dup (p.Gly920TrpfsTer?)
c.2726dup (p.Gly911TrpfsTer?)
 ClinVar
7g.150947669_150947672dupCA2580077737KCNH2n.3733_3736dup
c.2900_2903dup (p.Gly969AlafsTer?)
c.1880_1883dup (p.Gly629AlafsTer?)
c.2600_2603dup (p.Gly869AlafsTer?)
c.2713_2716dup (p.Arg906ProfsTer?)
c.2750_2753dup (p.Gly919AlafsTer?)
c.2723_2726dup (p.Gly910AlafsTer?)
 ClinVar
7g.150947669G>ACA369853171KCNH2n.3735C>T
c.2902C>T (p.Pro968Ser)
c.1882C>T (p.Pro628Ser)
c.2602C>T (p.Pro868Ser)
c.2715C>T (p.Arg905=)
c.2752C>T (p.Pro918Ser)
c.2725C>T (p.Pro909Ser)
 gnomAD v4
7g.150947669G>CCA035405KCNH2n.3735C>G
c.2902C>G (p.Pro968Ala)
c.1882C>G (p.Pro628Ala)
c.2602C>G (p.Pro868Ala)
c.2715C>G (p.Arg905=)
c.2752C>G (p.Pro918Ala)
c.2725C>G (p.Pro909Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947669G=CA1752429959KCNH2n.3735C=
c.2902C= (p.Pro968=)
c.1882C= (p.Pro628=)
c.2602C= (p.Pro868=)
c.2715C= (p.Arg905=)
c.2752C= (p.Pro918=)
c.2725C= (p.Pro909=)
7g.150947669G>TCA369853172KCNH2n.3735C>A
c.2902C>A (p.Pro968Thr)
c.1882C>A (p.Pro628Thr)
c.2602C>A (p.Pro868Thr)
c.2715C>A (p.Arg905=)
c.2752C>A (p.Pro918Thr)
c.2725C>A (p.Pro909Thr)
 gnomAD v4
7g.150947670C>ACA035383KCNH2n.3734G>T
c.2901G>T (p.Pro967=)
c.1881G>T (p.Pro627=)
c.2601G>T (p.Pro867=)
c.2714G>T (p.Arg905Leu)
c.2751G>T (p.Pro917=)
c.2724G>T (p.Pro908=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947670C=CA1752429972KCNH2n.3734G=
c.2901G= (p.Pro967=)
c.1881G= (p.Pro627=)
c.2601G= (p.Pro867=)
c.2714G= (p.Arg905=)
c.2751G= (p.Pro917=)
c.2724G= (p.Pro908=)
7g.150947670C>GCA458870888KCNH2n.3734G>C
c.2901G>C (p.Pro967=)
c.1881G>C (p.Pro627=)
c.2601G>C (p.Pro867=)
c.2714G>C (p.Arg905Pro)
c.2751G>C (p.Pro917=)
c.2724G>C (p.Pro908=)
 ClinVar gnomAD v4
7g.150947670C>TCA035360KCNH2n.3734G>A
c.2901G>A (p.Pro967=)
c.1881G>A (p.Pro627=)
c.2601G>A (p.Pro867=)
c.2714G>A (p.Arg905His)
c.2751G>A (p.Pro917=)
c.2724G>A (p.Pro908=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947671_150947675dupCA2695208803KCNH2n.3730_3734dup
c.2897_2901dup (p.Pro968SerfsTer8)
c.1877_1881dup (p.Pro628SerfsTer8)
c.2597_2601dup (p.Pro868SerfsTer8)
c.2710_2714dup (p.Arg906AlafsTer?)
c.2747_2751dup (p.Pro918SerfsTer8)
c.2720_2724dup (p.Pro909SerfsTer8)
7g.150947671G>ACA007598KCNH2n.3733C>T
c.2900C>T (p.Pro967Leu)
c.1880C>T (p.Pro627Leu)
c.2600C>T (p.Pro867Leu)
c.2713C>T (p.Arg905Cys)
c.2750C>T (p.Pro917Leu)
c.2723C>T (p.Pro908Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947671G>CCA369853173KCNH2n.3733C>G
c.2900C>G (p.Pro967Arg)
c.1880C>G (p.Pro627Arg)
c.2600C>G (p.Pro867Arg)
c.2713C>G (p.Arg905Gly)
c.2750C>G (p.Pro917Arg)
c.2723C>G (p.Pro908Arg)
7g.150947671G=CA1752429981KCNH2n.3733C=
c.2900C= (p.Pro967=)
c.1880C= (p.Pro627=)
c.2600C= (p.Pro867=)
c.2713C= (p.Arg905=)
c.2750C= (p.Pro917=)
c.2723C= (p.Pro908=)
7g.150947671G>TCA369853174KCNH2n.3733C>A
c.2900C>A (p.Pro967Gln)
c.1880C>A (p.Pro627Gln)
c.2600C>A (p.Pro867Gln)
c.2713C>A (p.Arg905Ser)
c.2750C>A (p.Pro917Gln)
c.2723C>A (p.Pro908Gln)
 gnomAD v4
7g.150947672dupCA305332KCNH2n.3733dup
c.2900dup (p.Pro968AlafsTer?)
c.1880dup (p.Pro628AlafsTer?)
c.2600dup (p.Pro868AlafsTer?)
c.2713dup (p.Arg905ProfsTer?)
c.2750dup (p.Pro918AlafsTer?)
c.2723dup (p.Pro909AlafsTer?)
 ClinVar dbSNP
7g.150947672G>ACA169072464KCNH2n.3732C>T
c.2899C>T (p.Pro967Ser)
c.1879C>T (p.Pro627Ser)
c.2599C>T (p.Pro867Ser)
c.2712C>T (p.Ser904=)
c.2749C>T (p.Pro917Ser)
c.2722C>T (p.Pro908Ser)
 ClinVar dbSNP gnomAD v4
7g.150947672G>CCA369853175KCNH2n.3732C>G
c.2899C>G (p.Pro967Ala)
c.1879C>G (p.Pro627Ala)
c.2599C>G (p.Pro867Ala)
c.2712C>G (p.Ser904Arg)
c.2749C>G (p.Pro917Ala)
c.2722C>G (p.Pro908Ala)
7g.150947672G=CA1752429988KCNH2n.3732C=
c.2899C= (p.Pro967=)
c.1879C= (p.Pro627=)
c.2599C= (p.Pro867=)
c.2712C= (p.Ser904=)
c.2749C= (p.Pro917=)
c.2722C= (p.Pro908=)
7g.150947672G>TCA369853176KCNH2n.3732C>A
c.2899C>A (p.Pro967Thr)
c.1879C>A (p.Pro627Thr)
c.2599C>A (p.Pro867Thr)
c.2712C>A (p.Ser904Arg)
c.2749C>A (p.Pro917Thr)
c.2722C>A (p.Pro908Thr)
 dbSNP
7g.150947673C>ACA369853177KCNH2n.3731G>T
c.2898G>T (p.Glu966Asp)
c.1878G>T (p.Glu626Asp)
c.2598G>T (p.Glu866Asp)
c.2711G>T (p.Ser904Ile)
c.2748G>T (p.Glu916Asp)
c.2721G>T (p.Glu907Asp)
7g.150947673C>GCA369853178KCNH2n.3731G>C
c.2898G>C (p.Glu966Asp)
c.1878G>C (p.Glu626Asp)
c.2598G>C (p.Glu866Asp)
c.2711G>C (p.Ser904Thr)
c.2748G>C (p.Glu916Asp)
c.2721G>C (p.Glu907Asp)
7g.150947673C>TCA458870898KCNH2n.3731G>A
c.2898G>A (p.Glu966=)
c.1878G>A (p.Glu626=)
c.2598G>A (p.Glu866=)
c.2711G>A (p.Ser904Asn)
c.2748G>A (p.Glu916=)
c.2721G>A (p.Glu907=)
7g.150947673_150947674delinsGGCA2573141851KCNH2n.3730_3731delinsCC
c.2897_2898delinsCC (p.Glu966Ala)
c.1877_1878delinsCC (p.Glu626Ala)
c.2597_2598delinsCC (p.Glu866Ala)
c.2710_2711delinsCC (p.Ser904Pro)
c.2747_2748delinsCC (p.Glu916Ala)
c.2720_2721delinsCC (p.Glu907Ala)
 ClinVar dbSNP
7g.150947674T>ACA369853180KCNH2n.3730A>T
c.2897A>T (p.Glu966Val)
c.1877A>T (p.Glu626Val)
c.2597A>T (p.Glu866Val)
c.2710A>T (p.Ser904Cys)
c.2747A>T (p.Glu916Val)
c.2720A>T (p.Glu907Val)
 gnomAD v4
7g.150947674T>CCA369853179KCNH2n.3730A>G
c.2897A>G (p.Glu966Gly)
c.1877A>G (p.Glu626Gly)
c.2597A>G (p.Glu866Gly)
c.2710A>G (p.Ser904Gly)
c.2747A>G (p.Glu916Gly)
c.2720A>G (p.Glu907Gly)
7g.150947674T>GCA035308KCNH2n.3730A>C
c.2897A>C (p.Glu966Ala)
c.1877A>C (p.Glu626Ala)
c.2597A>C (p.Glu866Ala)
c.2710A>C (p.Ser904Arg)
c.2747A>C (p.Glu916Ala)
c.2720A>C (p.Glu907Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947674T=CA1752429998KCNH2n.3730A=
c.2897A= (p.Glu966=)
c.1877A= (p.Glu626=)
c.2597A= (p.Glu866=)
c.2710A= (p.Ser904=)
c.2747A= (p.Glu916=)
c.2720A= (p.Glu907=)
7g.150947675C>ACA369853181KCNH2n.3729G>T
c.2896G>T (p.Glu966Ter)
c.1876G>T (p.Glu626Ter)
c.2596G>T (p.Glu866Ter)
c.2709G>T (p.Glu903Asp)
c.2746G>T (p.Glu916Ter)
c.2719G>T (p.Glu907Ter)
 gnomAD v4
7g.150947675C=CA1752430001KCNH2n.3729G=
c.2896G= (p.Glu966=)
c.1876G= (p.Glu626=)
c.2596G= (p.Glu866=)
c.2709G= (p.Glu903=)
c.2746G= (p.Glu916=)
c.2719G= (p.Glu907=)
7g.150947675C>GCA369853182KCNH2n.3729G>C
c.2896G>C (p.Glu966Gln)
c.1876G>C (p.Glu626Gln)
c.2596G>C (p.Glu866Gln)
c.2709G>C (p.Glu903Asp)
c.2746G>C (p.Glu916Gln)
c.2719G>C (p.Glu907Gln)
7g.150947675C>TCA035287KCNH2n.3729G>A
c.2896G>A (p.Glu966Lys)
c.1876G>A (p.Glu626Lys)
c.2596G>A (p.Glu866Lys)
c.2709G>A (p.Glu903=)
c.2746G>A (p.Glu916Lys)
c.2719G>A (p.Glu907Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947676T>ACA458870904KCNH2n.3728A>T
c.2895A>T (p.Gly965=)
c.1875A>T (p.Gly625=)
c.2595A>T (p.Gly865=)
c.2708A>T (p.Glu903Val)
c.2745A>T (p.Gly915=)
c.2718A>T (p.Gly906=)
7g.150947676T>CCA458870905KCNH2n.3728A>G
c.2895A>G (p.Gly965=)
c.1875A>G (p.Gly625=)
c.2595A>G (p.Gly865=)
c.2708A>G (p.Glu903Gly)
c.2745A>G (p.Gly915=)
c.2718A>G (p.Gly906=)
7g.150947676T>GCA458870907KCNH2n.3728A>C
c.2895A>C (p.Gly965=)
c.1875A>C (p.Gly625=)
c.2595A>C (p.Gly865=)
c.2708A>C (p.Glu903Ala)
c.2745A>C (p.Gly915=)
c.2718A>C (p.Gly906=)
7g.150947677C>ACA369853183KCNH2n.3727G>T
c.2894G>T (p.Gly965Val)
c.1874G>T (p.Gly625Val)
c.2594G>T (p.Gly865Val)
c.2707G>T (p.Glu903Ter)
c.2744G>T (p.Gly915Val)
c.2717G>T (p.Gly906Val)
 gnomAD v4
7g.150947677C>GCA369853185KCNH2n.3727G>C
c.2894G>C (p.Gly965Ala)
c.1874G>C (p.Gly625Ala)
c.2594G>C (p.Gly865Ala)
c.2707G>C (p.Glu903Gln)
c.2744G>C (p.Gly915Ala)
c.2717G>C (p.Gly906Ala)
7g.150947677C>TCA369853184KCNH2n.3727G>A
c.2894G>A (p.Gly965Glu)
c.1874G>A (p.Gly625Glu)
c.2594G>A (p.Gly865Glu)
c.2707G>A (p.Glu903Lys)
c.2744G>A (p.Gly915Glu)
c.2717G>A (p.Gly906Glu)
7g.150947678delCA2580077739KCNH2n.3727del
c.2894del (p.Gly965GlufsTer9)
c.1874del (p.Gly625GlufsTer9)
c.2594del (p.Gly865GlufsTer9)
c.2707del (p.Glu903ArgfsTer?)
c.2744del (p.Gly915GlufsTer9)
c.2717del (p.Gly906GlufsTer9)
 ClinVar
7g.150947678C>ACA369853186KCNH2n.3726G>T
c.2893G>T (p.Gly965Ter)
c.1873G>T (p.Gly625Ter)
c.2593G>T (p.Gly865Ter)
c.2706G>T (p.Pro902=)
c.2743G>T (p.Gly915Ter)
c.2716G>T (p.Gly906Ter)
 gnomAD v4
7g.150947678C=CA1752430006KCNH2n.3726G=
c.2893G= (p.Gly965=)
c.1873G= (p.Gly625=)
c.2593G= (p.Gly865=)
c.2706G= (p.Pro902=)
c.2743G= (p.Gly915=)
c.2716G= (p.Gly906=)
7g.150947678C>GCA369853187KCNH2n.3726G>C
c.2893G>C (p.Gly965Arg)
c.1873G>C (p.Gly625Arg)
c.2593G>C (p.Gly865Arg)
c.2706G>C (p.Pro902=)
c.2743G>C (p.Gly915Arg)
c.2716G>C (p.Gly906Arg)
7g.150947678C>TCA007590KCNH2n.3726G>A
c.2893G>A (p.Gly965Arg)
c.1873G>A (p.Gly625Arg)
c.2593G>A (p.Gly865Arg)
c.2706G>A (p.Pro902=)
c.2743G>A (p.Gly915Arg)
c.2716G>A (p.Gly906Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947678_150947679delinsCGCA1752430008KCNH2n.3725_3726delinsCG
c.2892_2893delinsCG (p.Pro964=)
c.1872_1873delinsCG (p.Pro624=)
c.2592_2593delinsCG (p.Pro864=)
c.2705_2706delinsCG (p.Pro902=)
c.2742_2743delinsCG (p.Pro914=)
c.2715_2716delinsCG (p.Pro905=)
7g.150947679G>ACA035253KCNH2n.3725C>T
c.2892C>T (p.Pro964=)
c.1872C>T (p.Pro624=)
c.2592C>T (p.Pro864=)
c.2705C>T (p.Pro902Leu)
c.2742C>T (p.Pro914=)
c.2715C>T (p.Pro905=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.150947679G>CCA035233KCNH2n.3725C>G
c.2892C>G (p.Pro964=)
c.1872C>G (p.Pro624=)
c.2592C>G (p.Pro864=)
c.2705C>G (p.Pro902Arg)
c.2742C>G (p.Pro914=)
c.2715C>G (p.Pro905=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947679G=CA1752430021KCNH2n.3725C=
c.2892C= (p.Pro964=)
c.1872C= (p.Pro624=)
c.2592C= (p.Pro864=)
c.2705C= (p.Pro902=)
c.2742C= (p.Pro914=)
c.2715C= (p.Pro905=)
7g.150947679G>TCA458870917KCNH2n.3725C>A
c.2892C>A (p.Pro964=)
c.1872C>A (p.Pro624=)
c.2592C>A (p.Pro864=)
c.2705C>A (p.Pro902Gln)
c.2742C>A (p.Pro914=)
c.2715C>A (p.Pro905=)
 gnomAD v4
7g.150947684dupCA305331KCNH2n.3725dup
c.2892dup (p.Gly965ArgfsTer?)
c.1872dup (p.Gly625ArgfsTer?)
c.2592dup (p.Gly865ArgfsTer?)
c.2705dup (p.Glu903GlyfsTer?)
c.2742dup (p.Gly915ArgfsTer?)
c.2715dup (p.Gly906ArgfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947683_150947684dupCA2695208804KCNH2n.3724_3725dup
c.2891_2892dup (p.Gly965ProfsTer10)
c.1871_1872dup (p.Gly625ProfsTer10)
c.2591_2592dup (p.Gly865ProfsTer10)
c.2704_2705dup (p.Glu903ArgfsTer?)
c.2741_2742dup (p.Gly915ProfsTer10)
c.2714_2715dup (p.Gly906ProfsTer10)
7g.150947684delCA16618400KCNH2n.3725del
c.2892del (p.Gly965GlufsTer9)
c.1872del (p.Gly625GlufsTer9)
c.2592del (p.Gly865GlufsTer9)
c.2705del (p.Pro902ArgfsTer?)
c.2742del (p.Gly915GlufsTer9)
c.2715del (p.Gly906GlufsTer9)
 ClinVar dbSNP gnomAD v4 COSMIC
7g.150947680G>ACA369853188KCNH2n.3724C>T
c.2891C>T (p.Pro964Leu)
c.1871C>T (p.Pro624Leu)
c.2591C>T (p.Pro864Leu)
c.2704C>T (p.Pro902Ser)
c.2741C>T (p.Pro914Leu)
c.2714C>T (p.Pro905Leu)
 ClinVar dbSNP
7g.150947680G>CCA169072486KCNH2n.3724C>G
c.2891C>G (p.Pro964Arg)
c.1871C>G (p.Pro624Arg)
c.2591C>G (p.Pro864Arg)
c.2704C>G (p.Pro902Ala)
c.2741C>G (p.Pro914Arg)
c.2714C>G (p.Pro905Arg)
 ClinVar dbSNP gnomAD v4
7g.150947680G=CA1752430028KCNH2n.3724C=
c.2891C= (p.Pro964=)
c.1871C= (p.Pro624=)
c.2591C= (p.Pro864=)
c.2704C= (p.Pro902=)
c.2741C= (p.Pro914=)
c.2714C= (p.Pro905=)
7g.150947680G>TCA369853189KCNH2n.3724C>A
c.2891C>A (p.Pro964His)
c.1871C>A (p.Pro624His)
c.2591C>A (p.Pro864His)
c.2704C>A (p.Pro902Thr)
c.2741C>A (p.Pro914His)
c.2714C>A (p.Pro905His)
7g.150947681G>ACA369853190KCNH2n.3723C>T
c.2890C>T (p.Pro964Ser)
c.1870C>T (p.Pro624Ser)
c.2590C>T (p.Pro864Ser)
c.2703C>T (p.Pro901=)
c.2740C>T (p.Pro914Ser)
c.2713C>T (p.Pro905Ser)
7g.150947681G>CCA10628480KCNH2n.3723C>G
c.2890C>G (p.Pro964Ala)
c.1870C>G (p.Pro624Ala)
c.2590C>G (p.Pro864Ala)
c.2703C>G (p.Pro901=)
c.2740C>G (p.Pro914Ala)
c.2713C>G (p.Pro905Ala)
 ClinVar dbSNP
7g.150947681G=CA1752430032KCNH2n.3723C=
c.2890C= (p.Pro964=)
c.1870C= (p.Pro624=)
c.2590C= (p.Pro864=)
c.2703C= (p.Pro901=)
c.2740C= (p.Pro914=)
c.2713C= (p.Pro905=)
7g.150947681G>TCA369853191KCNH2n.3723C>A
c.2890C>A (p.Pro964Thr)
c.1870C>A (p.Pro624Thr)
c.2590C>A (p.Pro864Thr)
c.2703C>A (p.Pro901=)
c.2740C>A (p.Pro914Thr)
c.2713C>A (p.Pro905Thr)
7g.150947682G>ACA035208KCNH2n.3722C>T
c.2889C>T (p.Pro963=)
c.1869C>T (p.Pro623=)
c.2589C>T (p.Pro863=)
c.2702C>T (p.Pro901Leu)
c.2739C>T (p.Pro913=)
c.2712C>T (p.Pro904=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947682G>CCA458870923KCNH2n.3722C>G
c.2889C>G (p.Pro963=)
c.1869C>G (p.Pro623=)
c.2589C>G (p.Pro863=)
c.2702C>G (p.Pro901Arg)
c.2739C>G (p.Pro913=)
c.2712C>G (p.Pro904=)
 ClinVar dbSNP
7g.150947682G=CA1752430038KCNH2n.3722C=
c.2889C= (p.Pro963=)
c.1869C= (p.Pro623=)
c.2589C= (p.Pro863=)
c.2702C= (p.Pro901=)
c.2739C= (p.Pro913=)
c.2712C= (p.Pro904=)
7g.150947682G>TCA458870924KCNH2n.3722C>A
c.2889C>A (p.Pro963=)
c.1869C>A (p.Pro623=)
c.2589C>A (p.Pro863=)
c.2702C>A (p.Pro901His)
c.2739C>A (p.Pro913=)
c.2712C>A (p.Pro904=)
 ClinVar dbSNP
7g.150947682_150947684delinsGGGCA1752430044KCNH2n.3720_3722delinsCCC
c.2887_2889delinsCCC (p.Pro963=)
c.1867_1869delinsCCC (p.Pro623=)
c.2587_2589delinsCCC (p.Pro863=)
c.2700_2702delinsCCC (p.Gly900=)
c.2737_2739delinsCCC (p.Pro913=)
c.2710_2712delinsCCC (p.Pro904=)
7g.150947683G>ACA369853192KCNH2n.3721C>T
c.2888C>T (p.Pro963Leu)
c.1868C>T (p.Pro623Leu)
c.2588C>T (p.Pro863Leu)
c.2701C>T (p.Pro901Ser)
c.2738C>T (p.Pro913Leu)
c.2711C>T (p.Pro904Leu)
 ClinVar
7g.150947683G>CCA369853193KCNH2n.3721C>G
c.2888C>G (p.Pro963Arg)
c.1868C>G (p.Pro623Arg)
c.2588C>G (p.Pro863Arg)
c.2701C>G (p.Pro901Ala)
c.2738C>G (p.Pro913Arg)
c.2711C>G (p.Pro904Arg)
 gnomAD v4
7g.150947683G>TCA369853194KCNH2n.3721C>A
c.2888C>A (p.Pro963His)
c.1868C>A (p.Pro623His)
c.2588C>A (p.Pro863His)
c.2701C>A (p.Pro901Thr)
c.2738C>A (p.Pro913His)
c.2711C>A (p.Pro904His)
7g.150947683_150947684delinsTCA16618401KCNH2n.3720_3721delinsA
c.2887_2888delinsA (p.Pro963ThrfsTer11)
c.1867_1868delinsA (p.Pro623ThrfsTer11)
c.2587_2588delinsA (p.Pro863ThrfsTer11)
c.2700_2701delinsA (p.Pro902ArgfsTer?)
c.2737_2738delinsA (p.Pro913ThrfsTer11)
c.2710_2711delinsA (p.Pro904ThrfsTer11)
 ClinVar dbSNP
7g.150947684G>ACA369853195KCNH2n.3720C>T
c.2887C>T (p.Pro963Ser)
c.1867C>T (p.Pro623Ser)
c.2587C>T (p.Pro863Ser)
c.2700C>T (p.Gly900=)
c.2737C>T (p.Pro913Ser)
c.2710C>T (p.Pro904Ser)
 gnomAD v4
7g.150947684G>CCA369853196KCNH2n.3720C>G
c.2887C>G (p.Pro963Ala)
c.1867C>G (p.Pro623Ala)
c.2587C>G (p.Pro863Ala)
c.2700C>G (p.Gly900=)
c.2737C>G (p.Pro913Ala)
c.2710C>G (p.Pro904Ala)
 gnomAD v4
7g.150947684G=CA1752430055KCNH2n.3720C=
c.2887C= (p.Pro963=)
c.1867C= (p.Pro623=)
c.2587C= (p.Pro863=)
c.2700C= (p.Gly900=)
c.2737C= (p.Pro913=)
c.2710C= (p.Pro904=)
7g.150947684G>TCA007577KCNH2n.3720C>A
c.2887C>A (p.Pro963Thr)
c.1867C>A (p.Pro623Thr)
c.2587C>A (p.Pro863Thr)
c.2700C>A (p.Gly900=)
c.2737C>A (p.Pro913Thr)
c.2710C>A (p.Pro904Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947685_150947688dupCA2695199642KCNH2n.3717_3720dup
c.2884_2887dup (p.Pro963GlnfsTer?)
c.1864_1867dup (p.Pro623GlnfsTer?)
c.2584_2587dup (p.Pro863GlnfsTer?)
c.2697_2700dup (p.Pro901ArgfsTer?)
c.2734_2737dup (p.Pro913GlnfsTer?)
c.2707_2710dup (p.Pro904GlnfsTer?)
 ClinVar
7g.150947685C>ACA369853197KCNH2n.3719G>T
c.2886G>T (p.Arg962Ser)
c.1866G>T (p.Arg622Ser)
c.2586G>T (p.Arg862Ser)
c.2699G>T (p.Gly900Val)
c.2736G>T (p.Arg912Ser)
c.2709G>T (p.Arg903Ser)
7g.150947685C=CA1752430061KCNH2n.3719G=
c.2886G= (p.Arg962=)
c.1866G= (p.Arg622=)
c.2586G= (p.Arg862=)
c.2699G= (p.Gly900=)
c.2736G= (p.Arg912=)
c.2709G= (p.Arg903=)
7g.150947685C>GCA369853198KCNH2n.3719G>C
c.2886G>C (p.Arg962Ser)
c.1866G>C (p.Arg622Ser)
c.2586G>C (p.Arg862Ser)
c.2699G>C (p.Gly900Ala)
c.2736G>C (p.Arg912Ser)
c.2709G>C (p.Arg903Ser)
7g.150947685C>TCA035174KCNH2n.3719G>A
c.2886G>A (p.Arg962=)
c.1866G>A (p.Arg622=)
c.2586G>A (p.Arg862=)
c.2699G>A (p.Gly900Asp)
c.2736G>A (p.Arg912=)
c.2709G>A (p.Arg903=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947686delCA2695208805KCNH2n.3719del
c.2886del (p.Arg962SerfsTer12)
c.1866del (p.Arg622SerfsTer12)
c.2586del (p.Arg862SerfsTer12)
c.2699del (p.Gly900AlafsTer?)
c.2736del (p.Arg912SerfsTer12)
c.2709del (p.Arg903SerfsTer12)
7g.150947686C>ACA369853199KCNH2n.3718G>T
c.2885G>T (p.Arg962Met)
c.1865G>T (p.Arg622Met)
c.2585G>T (p.Arg862Met)
c.2698G>T (p.Gly900Cys)
c.2735G>T (p.Arg912Met)
c.2708G>T (p.Arg903Met)
 gnomAD v4
7g.150947686C>GCA369853200KCNH2n.3718G>C
c.2885G>C (p.Arg962Thr)
c.1865G>C (p.Arg622Thr)
c.2585G>C (p.Arg862Thr)
c.2698G>C (p.Gly900Arg)
c.2735G>C (p.Arg912Thr)
c.2708G>C (p.Arg903Thr)
7g.150947686C>TCA369853201KCNH2n.3718G>A
c.2885G>A (p.Arg962Lys)
c.1865G>A (p.Arg622Lys)
c.2585G>A (p.Arg862Lys)
c.2698G>A (p.Gly900Ser)
c.2735G>A (p.Arg912Lys)
c.2708G>A (p.Arg903Lys)
 gnomAD v4
7g.150947687T>ACA369853203KCNH2n.3717A>T
c.2884A>T (p.Arg962Trp)
c.1864A>T (p.Arg622Trp)
c.2584A>T (p.Arg862Trp)
c.2697A>T (p.Pro899=)
c.2734A>T (p.Arg912Trp)
c.2707A>T (p.Arg903Trp)
 gnomAD v4
7g.150947687T>CCA369853202KCNH2n.3717A>G
c.2884A>G (p.Arg962Gly)
c.1864A>G (p.Arg622Gly)
c.2584A>G (p.Arg862Gly)
c.2697A>G (p.Pro899=)
c.2734A>G (p.Arg912Gly)
c.2707A>G (p.Arg903Gly)
 gnomAD v4
7g.150947687T>GCA458870930KCNH2n.3717A>C
c.2884A>C (p.Arg962=)
c.1864A>C (p.Arg622=)
c.2584A>C (p.Arg862=)
c.2697A>C (p.Pro899=)
c.2734A>C (p.Arg912=)
c.2707A>C (p.Arg903=)
7g.150947688G>ACA458870932KCNH2n.3716C>T
c.2883C>T (p.Pro961=)
c.1863C>T (p.Pro621=)
c.2583C>T (p.Pro861=)
c.2696C>T (p.Pro899Leu)
c.2733C>T (p.Pro911=)
c.2706C>T (p.Pro902=)
 dbSNP
7g.150947688G>CCA458870933KCNH2n.3716C>G
c.2883C>G (p.Pro961=)
c.1863C>G (p.Pro621=)
c.2583C>G (p.Pro861=)
c.2696C>G (p.Pro899Arg)
c.2733C>G (p.Pro911=)
c.2706C>G (p.Pro902=)
7g.150947688G=CA1752430062KCNH2n.3716C=
c.2883C= (p.Pro961=)
c.1863C= (p.Pro621=)
c.2583C= (p.Pro861=)
c.2696C= (p.Pro899=)
c.2733C= (p.Pro911=)
c.2706C= (p.Pro902=)
7g.150947688G>TCA458870934KCNH2n.3716C>A
c.2883C>A (p.Pro961=)
c.1863C>A (p.Pro621=)
c.2583C>A (p.Pro861=)
c.2696C>A (p.Pro899Gln)
c.2733C>A (p.Pro911=)
c.2706C>A (p.Pro902=)
7g.150947691delCA2685602123KCNH2n.3716del
c.2883del (p.Arg962GlyfsTer12)
c.1863del (p.Arg622GlyfsTer12)
c.2583del (p.Arg862GlyfsTer12)
c.2696del (p.Pro899GlnfsTer?)
c.2733del (p.Arg912GlyfsTer12)
c.2706del (p.Arg903GlyfsTer12)
 gnomAD v4
7g.150947689G>ACA369853204KCNH2n.3715C>T
c.2882C>T (p.Pro961Leu)
c.1862C>T (p.Pro621Leu)
c.2582C>T (p.Pro861Leu)
c.2695C>T (p.Pro899Ser)
c.2732C>T (p.Pro911Leu)
c.2705C>T (p.Pro902Leu)
7g.150947689G>CCA369853205KCNH2n.3715C>G
c.2882C>G (p.Pro961Arg)
c.1862C>G (p.Pro621Arg)
c.2582C>G (p.Pro861Arg)
c.2695C>G (p.Pro899Ala)
c.2732C>G (p.Pro911Arg)
c.2705C>G (p.Pro902Arg)
7g.150947689G>TCA369853206KCNH2n.3715C>A
c.2882C>A (p.Pro961His)
c.1862C>A (p.Pro621His)
c.2582C>A (p.Pro861His)
c.2695C>A (p.Pro899Thr)
c.2732C>A (p.Pro911His)
c.2705C>A (p.Pro902His)
 gnomAD v4
7g.150947690G>ACA369853207KCNH2n.3714C>T
c.2881C>T (p.Pro961Ser)
c.1861C>T (p.Pro621Ser)
c.2581C>T (p.Pro861Ser)
c.2694C>T (p.Ala898=)
c.2731C>T (p.Pro911Ser)
c.2704C>T (p.Pro902Ser)
 gnomAD v4
7g.150947690G>CCA369853208KCNH2n.3714C>G
c.2881C>G (p.Pro961Ala)
c.1861C>G (p.Pro621Ala)
c.2581C>G (p.Pro861Ala)
c.2694C>G (p.Ala898=)
c.2731C>G (p.Pro911Ala)
c.2704C>G (p.Pro902Ala)
7g.150947690G>TCA369853209KCNH2n.3714C>A
c.2881C>A (p.Pro961Thr)
c.1861C>A (p.Pro621Thr)
c.2581C>A (p.Pro861Thr)
c.2694C>A (p.Ala898=)
c.2731C>A (p.Pro911Thr)
c.2704C>A (p.Pro902Thr)
 gnomAD v4
7g.150947691G>ACA458870939KCNH2n.3713C>T
c.2880C>T (p.Ser960=)
c.1860C>T (p.Ser620=)
c.2580C>T (p.Ser860=)
c.2693C>T (p.Ala898Val)
c.2730C>T (p.Ser910=)
c.2703C>T (p.Ser901=)
 ClinVar dbSNP gnomAD v4
7g.150947691G>CCA369853211KCNH2n.3713C>G
c.2880C>G (p.Ser960Arg)
c.1860C>G (p.Ser620Arg)
c.2580C>G (p.Ser860Arg)
c.2693C>G (p.Ala898Gly)
c.2730C>G (p.Ser910Arg)
c.2703C>G (p.Ser901Arg)
7g.150947691G>TCA369853210KCNH2n.3713C>A
c.2880C>A (p.Ser960Arg)
c.1860C>A (p.Ser620Arg)
c.2580C>A (p.Ser860Arg)
c.2693C>A (p.Ala898Asp)
c.2730C>A (p.Ser910Arg)
c.2703C>A (p.Ser901Arg)
 gnomAD v4
7g.150947692C>ACA369853212KCNH2n.3712G>T
c.2879G>T (p.Ser960Ile)
c.1859G>T (p.Ser620Ile)
c.2579G>T (p.Ser860Ile)
c.2693-1G>T (n.2693-1G>T)
c.2729G>T (p.Ser910Ile)
c.2702G>T (p.Ser901Ile)
 gnomAD v4
7g.150947692C=CA1752430064KCNH2n.3712G=
c.2879G= (p.Ser960=)
c.1859G= (p.Ser620=)
c.2579G= (p.Ser860=)
c.2693-1G= (n.2693-1G=)
c.2729G= (p.Ser910=)
c.2702G= (p.Ser901=)
7g.150947692C>GCA369853213KCNH2n.3712G>C
c.2879G>C (p.Ser960Thr)
c.1859G>C (p.Ser620Thr)
c.2579G>C (p.Ser860Thr)
c.2693-1G>C (n.2693-1G>C)
c.2729G>C (p.Ser910Thr)
c.2702G>C (p.Ser901Thr)
7g.150947692C>TCA007556KCNH2n.3712G>A
c.2879G>A (p.Ser960Asn)
c.1859G>A (p.Ser620Asn)
c.2579G>A (p.Ser860Asn)
c.2693-1G>A (n.2693-1G>A)
c.2729G>A (p.Ser910Asn)
c.2702G>A (p.Ser901Asn)
 ClinVar dbSNP gnomAD v4
7g.150947693T>ACA369853214KCNH2n.3711A>T
c.2878A>T (p.Ser960Cys)
c.1858A>T (p.Ser620Cys)
c.2578A>T (p.Ser860Cys)
c.2693-2A>T (n.2693-2A>T)
c.2728A>T (p.Ser910Cys)
c.2701A>T (p.Ser901Cys)
7g.150947693T>CCA369853215KCNH2n.3711A>G
c.2878A>G (p.Ser960Gly)
c.1858A>G (p.Ser620Gly)
c.2578A>G (p.Ser860Gly)
c.2693-2A>G (n.2693-2A>G)
c.2728A>G (p.Ser910Gly)
c.2701A>G (p.Ser901Gly)
7g.150947693T>GCA369853216KCNH2n.3711A>C
c.2878A>C (p.Ser960Arg)
c.1858A>C (p.Ser620Arg)
c.2578A>C (p.Ser860Arg)
c.2693-2A>C (n.2693-2A>C)
c.2728A>C (p.Ser910Arg)
c.2701A>C (p.Ser901Arg)
7g.150947694G>ACA458870943KCNH2n.3710C>T
c.2877C>T (p.Ser959=)
c.1857C>T (p.Ser619=)
c.2577C>T (p.Ser859=)
c.2693-3C>T (n.2693-3C>T)
c.2727C>T (p.Ser909=)
c.2700C>T (p.Ser900=)
 gnomAD v4
7g.150947694G>CCA458870944KCNH2n.3710C>G
c.2877C>G (p.Ser959=)
c.1857C>G (p.Ser619=)
c.2577C>G (p.Ser859=)
c.2693-3C>G (n.2693-3C>G)
c.2727C>G (p.Ser909=)
c.2700C>G (p.Ser900=)
7g.150947694G>TCA458870946KCNH2n.3710C>A
c.2877C>A (p.Ser959=)
c.1857C>A (p.Ser619=)
c.2577C>A (p.Ser859=)
c.2693-3C>A (n.2693-3C>A)
c.2727C>A (p.Ser909=)
c.2700C>A (p.Ser900=)
 gnomAD v4
7g.150947695G>ACA369853217KCNH2n.3709C>T
c.2876C>T (p.Ser959Phe)
c.1856C>T (p.Ser619Phe)
c.2576C>T (p.Ser859Phe)
c.2693-4C>T (n.2693-4C>T)
c.2726C>T (p.Ser909Phe)
c.2699C>T (p.Ser900Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947695G>CCA369853219KCNH2n.3709C>G
c.2876C>G (p.Ser959Cys)
c.1856C>G (p.Ser619Cys)
c.2576C>G (p.Ser859Cys)
c.2693-4C>G (n.2693-4C>G)
c.2726C>G (p.Ser909Cys)
c.2699C>G (p.Ser900Cys)
 ClinVar dbSNP
7g.150947695G=CA1752430069KCNH2n.3709C=
c.2876C= (p.Ser959=)
c.1856C= (p.Ser619=)
c.2576C= (p.Ser859=)
c.2693-4C= (n.2693-4C=)
c.2726C= (p.Ser909=)
c.2699C= (p.Ser900=)
7g.150947695G>TCA369853218KCNH2n.3709C>A
c.2876C>A (p.Ser959Tyr)
c.1856C>A (p.Ser619Tyr)
c.2576C>A (p.Ser859Tyr)
c.2693-4C>A (n.2693-4C>A)
c.2726C>A (p.Ser909Tyr)
c.2699C>A (p.Ser900Tyr)
 gnomAD v4
7g.150947696A=CA1752430070KCNH2n.3708T=
c.2875T= (p.Ser959=)
c.1855T= (p.Ser619=)
c.2575T= (p.Ser859=)
c.2693-5T= (n.2693-5T=)
c.2725T= (p.Ser909=)
c.2698T= (p.Ser900=)
7g.150947696A>CCA369853220KCNH2n.3708T>G
c.2875T>G (p.Ser959Ala)
c.1855T>G (p.Ser619Ala)
c.2575T>G (p.Ser859Ala)
c.2693-5T>G (n.2693-5T>G)
c.2725T>G (p.Ser909Ala)
c.2698T>G (p.Ser900Ala)
7g.150947696A>GCA369853221KCNH2n.3708T>C
c.2875T>C (p.Ser959Pro)
c.1855T>C (p.Ser619Pro)
c.2575T>C (p.Ser859Pro)
c.2693-5T>C (n.2693-5T>C)
c.2725T>C (p.Ser909Pro)
c.2698T>C (p.Ser900Pro)
7g.150947696A>TCA369853222KCNH2n.3708T>A
c.2875T>A (p.Ser959Thr)
c.1855T>A (p.Ser619Thr)
c.2575T>A (p.Ser859Thr)
c.2693-5T>A (n.2693-5T>A)
c.2725T>A (p.Ser909Thr)
c.2698T>A (p.Ser900Thr)
 ClinVar dbSNP
7g.150947697G>ACA458870948KCNH2n.3707C>T
c.2874C>T (p.Phe958=)
c.1854C>T (p.Phe618=)
c.2574C>T (p.Phe858=)
c.2693-6C>T (n.2693-6C>T)
c.2724C>T (p.Phe908=)
c.2697C>T (p.Phe899=)
7g.150947697G>CCA369853223KCNH2n.3707C>G
c.2874C>G (p.Phe958Leu)
c.1854C>G (p.Phe618Leu)
c.2574C>G (p.Phe858Leu)
c.2693-6C>G (n.2693-6C>G)
c.2724C>G (p.Phe908Leu)
c.2697C>G (p.Phe899Leu)
7g.150947697G=CA1752430076KCNH2n.3707C=
c.2874C= (p.Phe958=)
c.1854C= (p.Phe618=)
c.2574C= (p.Phe858=)
c.2693-6C= (n.2693-6C=)
c.2724C= (p.Phe908=)
c.2697C= (p.Phe899=)
7g.150947697G>TCA369853224KCNH2n.3707C>A
c.2874C>A (p.Phe958Leu)
c.1854C>A (p.Phe618Leu)
c.2574C>A (p.Phe858Leu)
c.2693-6C>A (n.2693-6C>A)
c.2724C>A (p.Phe908Leu)
c.2697C>A (p.Phe899Leu)
 dbSNP gnomAD v2 gnomAD v4
7g.150947698A>CCA369853225KCNH2n.3706T>G
c.2873T>G (p.Phe958Cys)
c.1853T>G (p.Phe618Cys)
c.2573T>G (p.Phe858Cys)
c.2693-7T>G (n.2693-7T>G)
c.2723T>G (p.Phe908Cys)
c.2696T>G (p.Phe899Cys)
7g.150947698A>GCA369853226KCNH2n.3706T>C
c.2873T>C (p.Phe958Ser)
c.1853T>C (p.Phe618Ser)
c.2573T>C (p.Phe858Ser)
c.2693-7T>C (n.2693-7T>C)
c.2723T>C (p.Phe908Ser)
c.2696T>C (p.Phe899Ser)
7g.150947698A>TCA369853227KCNH2n.3706T>A
c.2873T>A (p.Phe958Tyr)
c.1853T>A (p.Phe618Tyr)
c.2573T>A (p.Phe858Tyr)
c.2693-7T>A (n.2693-7T>A)
c.2723T>A (p.Phe908Tyr)
c.2696T>A (p.Phe899Tyr)
7g.150947699A>CCA369853228KCNH2n.3705T>G
c.2872T>G (p.Phe958Val)
c.1852T>G (p.Phe618Val)
c.2572T>G (p.Phe858Val)
c.2693-8T>G (n.2693-8T>G)
c.2722T>G (p.Phe908Val)
c.2695T>G (p.Phe899Val)
7g.150947699A>GCA369853229KCNH2n.3705T>C
c.2872T>C (p.Phe958Leu)
c.1852T>C (p.Phe618Leu)
c.2572T>C (p.Phe858Leu)
c.2693-8T>C (n.2693-8T>C)
c.2722T>C (p.Phe908Leu)
c.2695T>C (p.Phe899Leu)
7g.150947699A>TCA369853230KCNH2n.3705T>A
c.2872T>A (p.Phe958Ile)
c.1852T>A (p.Phe618Ile)
c.2572T>A (p.Phe858Ile)
c.2693-8T>A (n.2693-8T>A)
c.2722T>A (p.Phe908Ile)
c.2695T>A (p.Phe899Ile)
 gnomAD v4
7g.150947700G>ACA458870955KCNH2n.3704C>T
c.2871C>T (p.Pro957=)
c.1851C>T (p.Pro617=)
c.2571C>T (p.Pro857=)
c.2693-9C>T (n.2693-9C>T)
c.2721C>T (p.Pro907=)
c.2694C>T (p.Pro898=)
 dbSNP gnomAD v2
7g.150947700G>CCA458870954KCNH2n.3704C>G
c.2871C>G (p.Pro957=)
c.1851C>G (p.Pro617=)
c.2571C>G (p.Pro857=)
c.2693-9C>G (n.2693-9C>G)
c.2721C>G (p.Pro907=)
c.2694C>G (p.Pro898=)
7g.150947700G=CA1752430077KCNH2n.3704C=
c.2871C= (p.Pro957=)
c.1851C= (p.Pro617=)
c.2571C= (p.Pro857=)
c.2693-9C= (n.2693-9C=)
c.2721C= (p.Pro907=)
c.2694C= (p.Pro898=)
7g.150947700G>TCA458870953KCNH2n.3704C>A
c.2871C>A (p.Pro957=)
c.1851C>A (p.Pro617=)
c.2571C>A (p.Pro857=)
c.2693-9C>A (n.2693-9C>A)
c.2721C>A (p.Pro907=)
c.2694C>A (p.Pro898=)
 gnomAD v4
7g.150947701G>ACA369853233KCNH2n.3703C>T
c.2870C>T (p.Pro957Leu)
c.1850C>T (p.Pro617Leu)
c.2570C>T (p.Pro857Leu)
c.2693-10C>T (n.2693-10C>T)
c.2720C>T (p.Pro907Leu)
c.2693C>T (p.Pro898Leu)
 ClinVar dbSNP gnomAD v4
7g.150947701G>CCA369853232KCNH2n.3703C>G
c.2870C>G (p.Pro957Arg)
c.1850C>G (p.Pro617Arg)
c.2570C>G (p.Pro857Arg)
c.2693-10C>G (n.2693-10C>G)
c.2720C>G (p.Pro907Arg)
c.2693C>G (p.Pro898Arg)
7g.150947701G=CA1752430078KCNH2n.3703C=
c.2870C= (p.Pro957=)
c.1850C= (p.Pro617=)
c.2570C= (p.Pro857=)
c.2693-10C= (n.2693-10C=)
c.2720C= (p.Pro907=)
c.2693C= (p.Pro898=)
7g.150947701G>TCA369853231KCNH2n.3703C>A
c.2870C>A (p.Pro957His)
c.1850C>A (p.Pro617His)
c.2570C>A (p.Pro857His)
c.2693-10C>A (n.2693-10C>A)
c.2720C>A (p.Pro907His)
c.2693C>A (p.Pro898His)
7g.150947702G>ACA369853234KCNH2n.3702C>T
c.2869C>T (p.Pro957Ser)
c.1849C>T (p.Pro617Ser)
c.2569C>T (p.Pro857Ser)
c.2693-11C>T (n.2693-11C>T)
c.2719C>T (p.Pro907Ser)
c.2692C>T (p.Pro898Ser)
 gnomAD v4
7g.150947702G>CCA369853236KCNH2n.3702C>G
c.2869C>G (p.Pro957Ala)
c.1849C>G (p.Pro617Ala)
c.2569C>G (p.Pro857Ala)
c.2693-11C>G (n.2693-11C>G)
c.2719C>G (p.Pro907Ala)
c.2692C>G (p.Pro898Ala)
7g.150947702G>TCA369853235KCNH2n.3702C>A
c.2869C>A (p.Pro957Thr)
c.1849C>A (p.Pro617Thr)
c.2569C>A (p.Pro857Thr)
c.2693-11C>A (n.2693-11C>A)
c.2719C>A (p.Pro907Thr)
c.2692C>A (p.Pro898Thr)
 gnomAD v4
7g.150947703C>ACA458870960KCNH2n.3701G>T
c.2868G>T (p.Val956=)
c.1848G>T (p.Val616=)
c.2568G>T (p.Val856=)
c.2693-12G>T (n.2693-12G>T)
c.2718G>T (p.Val906=)
c.2691G>T (p.Val897=)
 gnomAD v4
7g.150947703C=CA1752430083KCNH2n.3701G=
c.2868G= (p.Val956=)
c.1848G= (p.Val616=)
c.2568G= (p.Val856=)
c.2693-12G= (n.2693-12G=)
c.2718G= (p.Val906=)
c.2691G= (p.Val897=)
7g.150947703C>GCA458870961KCNH2n.3701G>C
c.2868G>C (p.Val956=)
c.1848G>C (p.Val616=)
c.2568G>C (p.Val856=)
c.2693-12G>C (n.2693-12G>C)
c.2718G>C (p.Val906=)
c.2691G>C (p.Val897=)
7g.150947703C>TCA035158KCNH2n.3701G>A
c.2868G>A (p.Val956=)
c.1848G>A (p.Val616=)
c.2568G>A (p.Val856=)
c.2693-12G>A (n.2693-12G>A)
c.2718G>A (p.Val906=)
c.2691G>A (p.Val897=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947704A>CCA369853237KCNH2n.3700T>G
c.2867T>G (p.Val956Gly)
c.1847T>G (p.Val616Gly)
c.2567T>G (p.Val856Gly)
c.2693-13T>G (n.2693-13T>G)
c.2717T>G (p.Val906Gly)
c.2690T>G (p.Val897Gly)
7g.150947704A>GCA369853238KCNH2n.3700T>C
c.2867T>C (p.Val956Ala)
c.1847T>C (p.Val616Ala)
c.2567T>C (p.Val856Ala)
c.2693-13T>C (n.2693-13T>C)
c.2717T>C (p.Val906Ala)
c.2690T>C (p.Val897Ala)
7g.150947704A>TCA369853239KCNH2n.3700T>A
c.2867T>A (p.Val956Glu)
c.1847T>A (p.Val616Glu)
c.2567T>A (p.Val856Glu)
c.2693-13T>A (n.2693-13T>A)
c.2717T>A (p.Val906Glu)
c.2690T>A (p.Val897Glu)
7g.150947705C>ACA369853240KCNH2n.3699G>T
c.2866G>T (p.Val956Leu)
c.1846G>T (p.Val616Leu)
c.2566G>T (p.Val856Leu)
c.2693-14G>T (n.2693-14G>T)
c.2716G>T (p.Val906Leu)
c.2689G>T (p.Val897Leu)
7g.150947705C=CA1752430085KCNH2n.3699G=
c.2866G= (p.Val956=)
c.1846G= (p.Val616=)
c.2566G= (p.Val856=)
c.2693-14G= (n.2693-14G=)
c.2716G= (p.Val906=)
c.2689G= (p.Val897=)
7g.150947705C>GCA369853241KCNH2n.3699G>C
c.2866G>C (p.Val956Leu)
c.1846G>C (p.Val616Leu)
c.2566G>C (p.Val856Leu)
c.2693-14G>C (n.2693-14G>C)
c.2716G>C (p.Val906Leu)
c.2689G>C (p.Val897Leu)
7g.150947705C>TCA369853242KCNH2n.3699G>A
c.2866G>A (p.Val956Met)
c.1846G>A (p.Val616Met)
c.2566G>A (p.Val856Met)
c.2693-14G>A (n.2693-14G>A)
c.2716G>A (p.Val906Met)
c.2689G>A (p.Val897Met)
 dbSNP gnomAD v2 gnomAD v4
7g.150947706C>ACA458870968KCNH2n.3698G>T
c.2865G>T (p.Leu955=)
c.1845G>T (p.Leu615=)
c.2565G>T (p.Leu855=)
c.2693-15G>T (n.2693-15G>T)
c.2715G>T (p.Leu905=)
c.2688G>T (p.Leu896=)
7g.150947706C>GCA458870969KCNH2n.3698G>C
c.2865G>C (p.Leu955=)
c.1845G>C (p.Leu615=)
c.2565G>C (p.Leu855=)
c.2693-15G>C (n.2693-15G>C)
c.2715G>C (p.Leu905=)
c.2688G>C (p.Leu896=)
7g.150947706C>TCA458870970KCNH2n.3698G>A
c.2865G>A (p.Leu955=)
c.1845G>A (p.Leu615=)
c.2565G>A (p.Leu855=)
c.2693-15G>A (n.2693-15G>A)
c.2715G>A (p.Leu905=)
c.2688G>A (p.Leu896=)
 gnomAD v4
7g.150947707A>CCA369853243KCNH2n.3697T>G
c.2864T>G (p.Leu955Arg)
c.1844T>G (p.Leu615Arg)
c.2564T>G (p.Leu855Arg)
c.2693-16T>G (n.2693-16T>G)
c.2714T>G (p.Leu905Arg)
c.2687T>G (p.Leu896Arg)
7g.150947707A>GCA369853244KCNH2n.3697T>C
c.2864T>C (p.Leu955Pro)
c.1844T>C (p.Leu615Pro)
c.2564T>C (p.Leu855Pro)
c.2693-16T>C (n.2693-16T>C)
c.2714T>C (p.Leu905Pro)
c.2687T>C (p.Leu896Pro)
 gnomAD v4
7g.150947707A>TCA369853245KCNH2n.3697T>A
c.2864T>A (p.Leu955Gln)
c.1844T>A (p.Leu615Gln)
c.2564T>A (p.Leu855Gln)
c.2693-16T>A (n.2693-16T>A)
c.2714T>A (p.Leu905Gln)
c.2687T>A (p.Leu896Gln)
7g.150947708G>ACA458870974KCNH2n.3696C>T
c.2863C>T (p.Leu955=)
c.1843C>T (p.Leu615=)
c.2563C>T (p.Leu855=)
c.2693-17C>T (n.2693-17C>T)
c.2713C>T (p.Leu905=)
c.2686C>T (p.Leu896=)
 dbSNP gnomAD v4
7g.150947708G>CCA007537KCNH2n.3696C>G
c.2863C>G (p.Leu955Val)
c.1843C>G (p.Leu615Val)
c.2563C>G (p.Leu855Val)
c.2693-17C>G (n.2693-17C>G)
c.2713C>G (p.Leu905Val)
c.2686C>G (p.Leu896Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947708G=CA1752430086KCNH2n.3696C=
c.2863C= (p.Leu955=)
c.1843C= (p.Leu615=)
c.2563C= (p.Leu855=)
c.2693-17C= (n.2693-17C=)
c.2713C= (p.Leu905=)
c.2686C= (p.Leu896=)
7g.150947708G>TCA369853246KCNH2n.3696C>A
c.2863C>A (p.Leu955Met)
c.1843C>A (p.Leu615Met)
c.2563C>A (p.Leu855Met)
c.2693-17C>A (n.2693-17C>A)
c.2713C>A (p.Leu905Met)
c.2686C>A (p.Leu896Met)
 gnomAD v4
7g.150947709G>ACA458870977KCNH2n.3695C>T
c.2862C>T (p.Arg954=)
c.1842C>T (p.Arg614=)
c.2562C>T (p.Arg854=)
c.2693-18C>T (n.2693-18C>T)
c.2712C>T (p.Arg904=)
c.2685C>T (p.Arg895=)
 gnomAD v4
7g.150947709G>CCA458870978KCNH2n.3695C>G
c.2862C>G (p.Arg954=)
c.1842C>G (p.Arg614=)
c.2562C>G (p.Arg854=)
c.2693-18C>G (n.2693-18C>G)
c.2712C>G (p.Arg904=)
c.2685C>G (p.Arg895=)
 gnomAD v4
7g.150947709G>TCA458870979KCNH2n.3695C>A
c.2862C>A (p.Arg954=)
c.1842C>A (p.Arg614=)
c.2562C>A (p.Arg854=)
c.2693-18C>A (n.2693-18C>A)
c.2712C>A (p.Arg904=)
c.2685C>A (p.Arg895=)
 gnomAD v4
7g.150947710C>ACA369853247KCNH2n.3694G>T
c.2861G>T (p.Arg954Leu)
c.1841G>T (p.Arg614Leu)
c.2561G>T (p.Arg854Leu)
c.2693-19G>T (n.2693-19G>T)
c.2711G>T (p.Arg904Leu)
c.2684G>T (p.Arg895Leu)
 dbSNP gnomAD v4
7g.150947710C=CA1752430088KCNH2n.3694G=
c.2861G= (p.Arg954=)
c.1841G= (p.Arg614=)
c.2561G= (p.Arg854=)
c.2693-19G= (n.2693-19G=)
c.2711G= (p.Arg904=)
c.2684G= (p.Arg895=)
7g.150947710C>GCA369853248KCNH2n.3694G>C
c.2861G>C (p.Arg954Pro)
c.1841G>C (p.Arg614Pro)
c.2561G>C (p.Arg854Pro)
c.2693-19G>C (n.2693-19G>C)
c.2711G>C (p.Arg904Pro)
c.2684G>C (p.Arg895Pro)
7g.150947710C>TCA035126KCNH2n.3694G>A
c.2861G>A (p.Arg954His)
c.1841G>A (p.Arg614His)
c.2561G>A (p.Arg854His)
c.2693-19G>A (n.2693-19G>A)
c.2711G>A (p.Arg904His)
c.2684G>A (p.Arg895His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947710_150947711insTCCCA2685602124KCNH2n.3694_3695insGAG
c.2861_2862insGAG (p.Arg954_Leu955insSer)
c.1841_1842insGAG (p.Arg614_Leu615insSer)
c.2561_2562insGAG (p.Arg854_Leu855insSer)
c.2693-19_2693-18insGAG (n.2693-19_2693-18insGAG)
c.2711_2712insGAG (p.Arg904_Leu905insSer)
c.2684_2685insGAG (p.Arg895_Leu896insSer)
 gnomAD v4
7g.150947711G>ACA007528KCNH2n.3693C>T
c.2860C>T (p.Arg954Cys)
c.1840C>T (p.Arg614Cys)
c.2560C>T (p.Arg854Cys)
c.2693-20C>T (n.2693-20C>T)
c.2710C>T (p.Arg904Cys)
c.2683C>T (p.Arg895Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947711G>CCA369853249KCNH2n.3693C>G
c.2860C>G (p.Arg954Gly)
c.1840C>G (p.Arg614Gly)
c.2560C>G (p.Arg854Gly)
c.2693-20C>G (n.2693-20C>G)
c.2710C>G (p.Arg904Gly)
c.2683C>G (p.Arg895Gly)
7g.150947711G=CA1752430092KCNH2n.3693C=
c.2860C= (p.Arg954=)
c.1840C= (p.Arg614=)
c.2560C= (p.Arg854=)
c.2693-20C= (n.2693-20C=)
c.2710C= (p.Arg904=)
c.2683C= (p.Arg895=)
7g.150947711G>TCA369853250KCNH2n.3693C>A
c.2860C>A (p.Arg954Ser)
c.1840C>A (p.Arg614Ser)
c.2560C>A (p.Arg854Ser)
c.2693-20C>A (n.2693-20C>A)
c.2710C>A (p.Arg904Ser)
c.2683C>A (p.Arg895Ser)
7g.150947712G>ACA458870984KCNH2n.3692C>T
c.2859C>T (p.Leu953=)
c.1839C>T (p.Leu613=)
c.2559C>T (p.Leu853=)
c.2693-21C>T (n.2693-21C>T)
c.2709C>T (p.Leu903=)
c.2682C>T (p.Leu894=)
7g.150947712G>CCA458870985KCNH2n.3692C>G
c.2859C>G (p.Leu953=)
c.1839C>G (p.Leu613=)
c.2559C>G (p.Leu853=)
c.2693-21C>G (n.2693-21C>G)
c.2709C>G (p.Leu903=)
c.2682C>G (p.Leu894=)
7g.150947712G>TCA458870986KCNH2n.3692C>A
c.2859C>A (p.Leu953=)
c.1839C>A (p.Leu613=)
c.2559C>A (p.Leu853=)
c.2693-21C>A (n.2693-21C>A)
c.2709C>A (p.Leu903=)
c.2682C>A (p.Leu894=)
 gnomAD v4
7g.150947713_150947714delCA2685602125KCNH2n.3691_3692del
c.2858_2859del (p.Leu953ProfsTer?)
c.1838_1839del (p.Leu613ProfsTer?)
c.2558_2559del (p.Leu853ProfsTer?)
c.2693-22_2693-21del (n.2693-22_2693-21del)
c.2708_2709del (p.Leu903ProfsTer?)
c.2681_2682del (p.Leu894ProfsTer?)
 gnomAD v4
7g.150947713A>CCA369853251KCNH2n.3691T>G
c.2858T>G (p.Leu953Arg)
c.1838T>G (p.Leu613Arg)
c.2558T>G (p.Leu853Arg)
c.2693-22T>G (n.2693-22T>G)
c.2708T>G (p.Leu903Arg)
c.2681T>G (p.Leu894Arg)
7g.150947713A>GCA369853252KCNH2n.3691T>C
c.2858T>C (p.Leu953Pro)
c.1838T>C (p.Leu613Pro)
c.2558T>C (p.Leu853Pro)
c.2693-22T>C (n.2693-22T>C)
c.2708T>C (p.Leu903Pro)
c.2681T>C (p.Leu894Pro)
7g.150947713A>TCA369853253KCNH2n.3691T>A
c.2858T>A (p.Leu953His)
c.1838T>A (p.Leu613His)
c.2558T>A (p.Leu853His)
c.2693-22T>A (n.2693-22T>A)
c.2708T>A (p.Leu903His)
c.2681T>A (p.Leu894His)
 gnomAD v4
7g.150947713_150947714delinsAGCA1752430097KCNH2n.3690_3691delinsCT
c.2857_2858delinsCT (p.Leu953=)
c.1837_1838delinsCT (p.Leu613=)
c.2557_2558delinsCT (p.Leu853=)
c.2693-23_2693-22delinsCT (n.2693-23_2693-22delinsCT)
c.2707_2708delinsCT (p.Leu903=)
c.2680_2681delinsCT (p.Leu894=)
7g.150947714G>ACA369853254KCNH2n.3690C>T
c.2857C>T (p.Leu953Phe)
c.1837C>T (p.Leu613Phe)
c.2557C>T (p.Leu853Phe)
c.2693-23C>T (n.2693-23C>T)
c.2707C>T (p.Leu903Phe)
c.2680C>T (p.Leu894Phe)
 ClinVar dbSNP
7g.150947714G>CCA369853255KCNH2n.3690C>G
c.2857C>G (p.Leu953Val)
c.1837C>G (p.Leu613Val)
c.2557C>G (p.Leu853Val)
c.2693-23C>G (n.2693-23C>G)
c.2707C>G (p.Leu903Val)
c.2680C>G (p.Leu894Val)
7g.150947714G=CA1752430099KCNH2n.3690C=
c.2857C= (p.Leu953=)
c.1837C= (p.Leu613=)
c.2557C= (p.Leu853=)
c.2693-23C= (n.2693-23C=)
c.2707C= (p.Leu903=)
c.2680C= (p.Leu894=)
7g.150947714G>TCA369853256KCNH2n.3690C>A
c.2857C>A (p.Leu953Ile)
c.1837C>A (p.Leu613Ile)
c.2557C>A (p.Leu853Ile)
c.2693-23C>A (n.2693-23C>A)
c.2707C>A (p.Leu903Ile)
c.2680C>A (p.Leu894Ile)
 gnomAD v4
7g.150947718dupCA2580077743KCNH2n.3690dup
c.2857dup (p.Leu953ProfsTer?)
c.1837dup (p.Leu613ProfsTer?)
c.2557dup (p.Leu853ProfsTer?)
c.2693-23dup (n.2693-23dup)
c.2707dup (p.Leu903ProfsTer?)
c.2680dup (p.Leu894ProfsTer?)
 ClinVar
7g.150947718delCA007519KCNH2n.3690del
c.2857del (p.Leu953SerfsTer21)
c.1837del (p.Leu613SerfsTer21)
c.2557del (p.Leu853SerfsTer21)
c.2693-23del (n.2693-23del)
c.2707del (p.Leu903SerfsTer21)
c.2680del (p.Leu894SerfsTer21)
 ClinVar dbSNP
7g.150947715G>ACA458870988KCNH2n.3689C>T
c.2856C>T (p.Pro952=)
c.1836C>T (p.Pro612=)
c.2556C>T (p.Pro852=)
c.2693-24C>T (n.2693-24C>T)
c.2706C>T (p.Pro902=)
c.2679C>T (p.Pro893=)
7g.150947715G>CCA458870989KCNH2n.3689C>G
c.2856C>G (p.Pro952=)
c.1836C>G (p.Pro612=)
c.2556C>G (p.Pro852=)
c.2693-24C>G (n.2693-24C>G)
c.2706C>G (p.Pro902=)
c.2679C>G (p.Pro893=)
7g.150947715G>TCA458870990KCNH2n.3689C>A
c.2856C>A (p.Pro952=)
c.1836C>A (p.Pro612=)
c.2556C>A (p.Pro852=)
c.2693-24C>A (n.2693-24C>A)
c.2706C>A (p.Pro902=)
c.2679C>A (p.Pro893=)
 gnomAD v4
7g.150947716G>ACA369853258KCNH2n.3688C>T
c.2855C>T (p.Pro952Leu)
c.1835C>T (p.Pro612Leu)
c.2555C>T (p.Pro852Leu)
c.2693-25C>T (n.2693-25C>T)
c.2705C>T (p.Pro902Leu)
c.2678C>T (p.Pro893Leu)
 ClinVar dbSNP
7g.150947716G>CCA035089KCNH2n.3688C>G
c.2855C>G (p.Pro952Arg)
c.1835C>G (p.Pro612Arg)
c.2555C>G (p.Pro852Arg)
c.2693-25C>G (n.2693-25C>G)
c.2705C>G (p.Pro902Arg)
c.2678C>G (p.Pro893Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947716G=CA1752430106KCNH2n.3688C=
c.2855C= (p.Pro952=)
c.1835C= (p.Pro612=)
c.2555C= (p.Pro852=)
c.2693-25C= (n.2693-25C=)
c.2705C= (p.Pro902=)
c.2678C= (p.Pro893=)
7g.150947716G>TCA369853257KCNH2n.3688C>A
c.2855C>A (p.Pro952His)
c.1835C>A (p.Pro612His)
c.2555C>A (p.Pro852His)
c.2693-25C>A (n.2693-25C>A)
c.2705C>A (p.Pro902His)
c.2678C>A (p.Pro893His)
 gnomAD v4
7g.150947717G>ACA035078KCNH2n.3687C>T
c.2854C>T (p.Pro952Ser)
c.1834C>T (p.Pro612Ser)
c.2554C>T (p.Pro852Ser)
c.2693-26C>T (n.2693-26C>T)
c.2704C>T (p.Pro902Ser)
c.2677C>T (p.Pro893Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947717G>CCA369853259KCNH2n.3687C>G
c.2854C>G (p.Pro952Ala)
c.1834C>G (p.Pro612Ala)
c.2554C>G (p.Pro852Ala)
c.2693-26C>G (n.2693-26C>G)
c.2704C>G (p.Pro902Ala)
c.2677C>G (p.Pro893Ala)
7g.150947717G=CA1752430110KCNH2n.3687C=
c.2854C= (p.Pro952=)
c.1834C= (p.Pro612=)
c.2554C= (p.Pro852=)
c.2693-26C= (n.2693-26C=)
c.2704C= (p.Pro902=)
c.2677C= (p.Pro893=)
7g.150947717G>TCA369853260KCNH2n.3687C>A
c.2854C>A (p.Pro952Thr)
c.1834C>A (p.Pro612Thr)
c.2554C>A (p.Pro852Thr)
c.2693-26C>A (n.2693-26C>A)
c.2704C>A (p.Pro902Thr)
c.2677C>A (p.Pro893Thr)
 dbSNP gnomAD v2 gnomAD v4
7g.150947718G>ACA458870999KCNH2n.3686C>T
c.2853C>T (p.Ser951=)
c.1833C>T (p.Ser611=)
c.2553C>T (p.Ser851=)
c.2693-27C>T (n.2693-27C>T)
c.2703C>T (p.Ser901=)
c.2676C>T (p.Ser892=)
 dbSNP gnomAD v2 gnomAD v4
7g.150947718G>CCA369853261KCNH2n.3686C>G
c.2853C>G (p.Ser951Arg)
c.1833C>G (p.Ser611Arg)
c.2553C>G (p.Ser851Arg)
c.2693-27C>G (n.2693-27C>G)
c.2703C>G (p.Ser901Arg)
c.2676C>G (p.Ser892Arg)
7g.150947718G=CA1752430113KCNH2n.3686C=
c.2853C= (p.Ser951=)
c.1833C= (p.Ser611=)
c.2553C= (p.Ser851=)
c.2693-27C= (n.2693-27C=)
c.2703C= (p.Ser901=)
c.2676C= (p.Ser892=)
7g.150947718G>TCA369853262KCNH2n.3686C>A
c.2853C>A (p.Ser951Arg)
c.1833C>A (p.Ser611Arg)
c.2553C>A (p.Ser851Arg)
c.2693-27C>A (n.2693-27C>A)
c.2703C>A (p.Ser901Arg)
c.2676C>A (p.Ser892Arg)
 ClinVar dbSNP gnomAD v4
7g.150947719C>ACA369853265KCNH2n.3685G>T
c.2852G>T (p.Ser951Ile)
c.1832G>T (p.Ser611Ile)
c.2552G>T (p.Ser851Ile)
c.2693-28G>T (n.2693-28G>T)
c.2702G>T (p.Ser901Ile)
c.2675G>T (p.Ser892Ile)
7g.150947719C>GCA369853264KCNH2n.3685G>C
c.2852G>C (p.Ser951Thr)
c.1832G>C (p.Ser611Thr)
c.2552G>C (p.Ser851Thr)
c.2693-28G>C (n.2693-28G>C)
c.2702G>C (p.Ser901Thr)
c.2675G>C (p.Ser892Thr)
 gnomAD v4
7g.150947719C>TCA369853263KCNH2n.3685G>A
c.2852G>A (p.Ser951Asn)
c.1832G>A (p.Ser611Asn)
c.2552G>A (p.Ser851Asn)
c.2693-28G>A (n.2693-28G>A)
c.2702G>A (p.Ser901Asn)
c.2675G>A (p.Ser892Asn)
 gnomAD v4
7g.150947723_150947735delCA2580077744KCNH2n.3673_3685del
c.2840_2852del (p.Gly947AlafsTer23)
c.1820_1832del (p.Gly607AlafsTer23)
c.2540_2552del (p.Gly847AlafsTer23)
c.2693-40_2693-28del (n.2693-40_2693-28del)
c.2690_2702del (p.Gly897AlafsTer23)
c.2663_2675del (p.Gly888AlafsTer23)
 ClinVar
7g.150947720T>ACA369853266KCNH2n.3684A>T
c.2851A>T (p.Ser951Cys)
c.1831A>T (p.Ser611Cys)
c.2551A>T (p.Ser851Cys)
c.2693-29A>T (n.2693-29A>T)
c.2701A>T (p.Ser901Cys)
c.2674A>T (p.Ser892Cys)
7g.150947720T>CCA369853267KCNH2n.3684A>G
c.2851A>G (p.Ser951Gly)
c.1831A>G (p.Ser611Gly)
c.2551A>G (p.Ser851Gly)
c.2693-29A>G (n.2693-29A>G)
c.2701A>G (p.Ser901Gly)
c.2674A>G (p.Ser892Gly)
 gnomAD v4
7g.150947720T>GCA369853268KCNH2n.3684A>C
c.2851A>C (p.Ser951Arg)
c.1831A>C (p.Ser611Arg)
c.2551A>C (p.Ser851Arg)
c.2693-29A>C (n.2693-29A>C)
c.2701A>C (p.Ser901Arg)
c.2674A>C (p.Ser892Arg)
7g.150947721G>ACA458871010KCNH2n.3683C>T
c.2850C>T (p.Ser950=)
c.1830C>T (p.Ser610=)
c.2550C>T (p.Ser850=)
c.2693-30C>T (n.2693-30C>T)
c.2700C>T (p.Ser900=)
c.2673C>T (p.Ser891=)
 ClinVar dbSNP gnomAD v4
7g.150947721G>CCA458871009KCNH2n.3683C>G
c.2850C>G (p.Ser950=)
c.1830C>G (p.Ser610=)
c.2550C>G (p.Ser850=)
c.2693-30C>G (n.2693-30C>G)
c.2700C>G (p.Ser900=)
c.2673C>G (p.Ser891=)
7g.150947721G>TCA458871007KCNH2n.3683C>A
c.2850C>A (p.Ser950=)
c.1830C>A (p.Ser610=)
c.2550C>A (p.Ser850=)
c.2693-30C>A (n.2693-30C>A)
c.2700C>A (p.Ser900=)
c.2673C>A (p.Ser891=)
7g.150947722G>ACA369853269KCNH2n.3682C>T
c.2849C>T (p.Ser950Phe)
c.1829C>T (p.Ser610Phe)
c.2549C>T (p.Ser850Phe)
c.2693-31C>T (n.2693-31C>T)
c.2699C>T (p.Ser900Phe)
c.2672C>T (p.Ser891Phe)
7g.150947722G>CCA369853270KCNH2n.3682C>G
c.2849C>G (p.Ser950Cys)
c.1829C>G (p.Ser610Cys)
c.2549C>G (p.Ser850Cys)
c.2693-31C>G (n.2693-31C>G)
c.2699C>G (p.Ser900Cys)
c.2672C>G (p.Ser891Cys)
7g.150947722G>TCA369853271KCNH2n.3682C>A
c.2849C>A (p.Ser950Tyr)
c.1829C>A (p.Ser610Tyr)
c.2549C>A (p.Ser850Tyr)
c.2693-31C>A (n.2693-31C>A)
c.2699C>A (p.Ser900Tyr)
c.2672C>A (p.Ser891Tyr)
7g.150947723A>CCA369853272KCNH2n.3681T>G
c.2848T>G (p.Ser950Ala)
c.1828T>G (p.Ser610Ala)
c.2548T>G (p.Ser850Ala)
c.2693-32T>G (n.2693-32T>G)
c.2698T>G (p.Ser900Ala)
c.2671T>G (p.Ser891Ala)
7g.150947723A>GCA369853274KCNH2n.3681T>C
c.2848T>C (p.Ser950Pro)
c.1828T>C (p.Ser610Pro)
c.2548T>C (p.Ser850Pro)
c.2693-32T>C (n.2693-32T>C)
c.2698T>C (p.Ser900Pro)
c.2671T>C (p.Ser891Pro)
 gnomAD v4
7g.150947723A>TCA369853273KCNH2n.3681T>A
c.2848T>A (p.Ser950Thr)
c.1828T>A (p.Ser610Thr)
c.2548T>A (p.Ser850Thr)
c.2693-32T>A (n.2693-32T>A)
c.2698T>A (p.Ser900Thr)
c.2671T>A (p.Ser891Thr)
7g.150947724G>ACA458871013KCNH2n.3680C>T
c.2847C>T (p.Ser949=)
c.1827C>T (p.Ser609=)
c.2547C>T (p.Ser849=)
c.2693-33C>T (n.2693-33C>T)
c.2697C>T (p.Ser899=)
c.2670C>T (p.Ser890=)
7g.150947724G>CCA035057KCNH2n.3680C>G
c.2847C>G (p.Ser949Arg)
c.1827C>G (p.Ser609Arg)
c.2547C>G (p.Ser849Arg)
c.2693-33C>G (n.2693-33C>G)
c.2697C>G (p.Ser899Arg)
c.2670C>G (p.Ser890Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947724G=CA1752430115KCNH2n.3680C=
c.2847C= (p.Ser949=)
c.1827C= (p.Ser609=)
c.2547C= (p.Ser849=)
c.2693-33C= (n.2693-33C=)
c.2697C= (p.Ser899=)
c.2670C= (p.Ser890=)
7g.150947724G>TCA369853275KCNH2n.3680C>A
c.2847C>A (p.Ser949Arg)
c.1827C>A (p.Ser609Arg)
c.2547C>A (p.Ser849Arg)
c.2693-33C>A (n.2693-33C>A)
c.2697C>A (p.Ser899Arg)
c.2670C>A (p.Ser890Arg)
 gnomAD v4
7g.150947725C>ACA369853276KCNH2n.3679G>T
c.2846G>T (p.Ser949Ile)
c.1826G>T (p.Ser609Ile)
c.2546G>T (p.Ser849Ile)
c.2693-34G>T (n.2693-34G>T)
c.2696G>T (p.Ser899Ile)
c.2669G>T (p.Ser890Ile)
 ClinVar gnomAD v4
7g.150947725C=CA1752430122KCNH2n.3679G=
c.2846G= (p.Ser949=)
c.1826G= (p.Ser609=)
c.2546G= (p.Ser849=)
c.2693-34G= (n.2693-34G=)
c.2696G= (p.Ser899=)
c.2669G= (p.Ser890=)
7g.150947725C>GCA369853277KCNH2n.3679G>C
c.2846G>C (p.Ser949Thr)
c.1826G>C (p.Ser609Thr)
c.2546G>C (p.Ser849Thr)
c.2693-34G>C (n.2693-34G>C)
c.2696G>C (p.Ser899Thr)
c.2669G>C (p.Ser890Thr)
7g.150947725C>TCA369853278KCNH2n.3679G>A
c.2846G>A (p.Ser949Asn)
c.1826G>A (p.Ser609Asn)
c.2546G>A (p.Ser849Asn)
c.2693-34G>A (n.2693-34G>A)
c.2696G>A (p.Ser899Asn)
c.2669G>A (p.Ser890Asn)
 dbSNP gnomAD v2
7g.150947729_150947752delCA2579062904KCNH2n.3656_3679del
c.2823_2846del (p.Glu942_Ser949del)
c.1803_1826del (p.Glu602_Ser609del)
c.2523_2546del (p.Glu842_Ser849del)
c.2693-57_2693-34del (n.2693-57_2693-34del)
c.2673_2696del (p.Glu892_Ser899del)
c.2646_2669del (p.Glu883_Ser890del)
 ClinVar gnomAD v4
7g.150947726T>ACA369853279KCNH2n.3678A>T
c.2845A>T (p.Ser949Cys)
c.1825A>T (p.Ser609Cys)
c.2545A>T (p.Ser849Cys)
c.2693-35A>T (n.2693-35A>T)
c.2695A>T (p.Ser899Cys)
c.2668A>T (p.Ser890Cys)
7g.150947726T>CCA369853280KCNH2n.3678A>G
c.2845A>G (p.Ser949Gly)
c.1825A>G (p.Ser609Gly)
c.2545A>G (p.Ser849Gly)
c.2693-35A>G (n.2693-35A>G)
c.2695A>G (p.Ser899Gly)
c.2668A>G (p.Ser890Gly)
 gnomAD v4
7g.150947726T>GCA369853281KCNH2n.3678A>C
c.2845A>C (p.Ser949Arg)
c.1825A>C (p.Ser609Arg)
c.2545A>C (p.Ser849Arg)
c.2693-35A>C (n.2693-35A>C)
c.2695A>C (p.Ser899Arg)
c.2668A>C (p.Ser890Arg)
 gnomAD v4

Number of alleles fetched