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.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.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.150947425T>ACA369852796KCNH2n.3888A>T
c.3055A>T (p.Thr1019Ser)
c.2035A>T (p.Thr679Ser)
c.2755A>T (p.Thr919Ser)
c.*135A>T (n.*135A>T)
c.2905A>T (p.Thr969Ser)
c.2878A>T (p.Thr960Ser)
7g.150947425T>CCA369852798KCNH2n.3888A>G
c.3055A>G (p.Thr1019Ala)
c.2035A>G (p.Thr679Ala)
c.2755A>G (p.Thr919Ala)
c.*135A>G (n.*135A>G)
c.2905A>G (p.Thr969Ala)
c.2878A>G (p.Thr960Ala)
7g.150947425T>GCA369852799KCNH2n.3888A>C
c.3055A>C (p.Thr1019Pro)
c.2035A>C (p.Thr679Pro)
c.2755A>C (p.Thr919Pro)
c.*135A>C (n.*135A>C)
c.2905A>C (p.Thr969Pro)
c.2878A>C (p.Thr960Pro)
dbSNP gnomAD v3 gnomAD v4
7g.150947425T=CA1752429257KCNH2n.3888A=
c.3055A= (p.Thr1019=)
c.2035A= (p.Thr679=)
c.2755A= (p.Thr919=)
c.*135A= (n.*135A=)
c.2905A= (p.Thr969=)
c.2878A= (p.Thr960=)
7g.150947425_150947426delinsTGCA1752429254KCNH2n.3887_3888delinsCA
c.3054_3055delinsCA (p.Pro1018=)
c.2034_2035delinsCA (p.Pro678=)
c.2754_2755delinsCA (p.Pro918=)
c.*134_*135delinsCA (n.*134_*135delinsCA)
c.2904_2905delinsCA (p.Pro968=)
c.2877_2878delinsCA (p.Pro959=)
7g.150947425_150947431delinsTGGGGGCCA1752429255KCNH2n.3882_3888delinsGCCCCCA
c.3049_3055delinsGCCCCCA (p.Ala1017=)
c.2029_2035delinsGCCCCCA (p.Ala677=)
c.2749_2755delinsGCCCCCA (p.Ala917=)
c.*129_*135delinsGCCCCCA (n.*129_*135delinsGCCCCCA)
c.2899_2905delinsGCCCCCA (p.Ala967=)
c.2872_2878delinsGCCCCCA (p.Ala958=)
7g.150947425_150947426insTTGTGGCGGTGGGGGGGGGGCA2685601940KCNH2n.3887_3888insCCCCCCCCCCACCGCCACAA
c.3054_3055insCCCCCCCCCCACCGCCACAA (p.Thr1019ProfsTer?)
c.2034_2035insCCCCCCCCCCACCGCCACAA (p.Thr679ProfsTer?)
c.2754_2755insCCCCCCCCCCACCGCCACAA (p.Thr919ProfsTer?)
c.*134_*135insCCCCCCCCCCACCGCCACAA (n.*134_*135insCCCCCCCCCCACCGCCACAA)
c.2904_2905insCCCCCCCCCCACCGCCACAA (p.Thr969ProfsTer?)
c.2877_2878insCCCCCCCCCCACCGCCACAA (p.Thr960ProfsTer?)
gnomAD v4
7g.150947426G>ACA458644885KCNH2n.3887C>T
c.3054C>T (p.Pro1018=)
c.2034C>T (p.Pro678=)
c.2754C>T (p.Pro918=)
c.*134C>T (n.*134C>T)
c.2904C>T (p.Pro968=)
c.2877C>T (p.Pro959=)
ClinVar dbSNP
7g.150947426G>CCA458644886KCNH2n.3887C>G
c.3054C>G (p.Pro1018=)
c.2034C>G (p.Pro678=)
c.2754C>G (p.Pro918=)
c.*134C>G (n.*134C>G)
c.2904C>G (p.Pro968=)
c.2877C>G (p.Pro959=)
dbSNP gnomAD v2
7g.150947426G=CA1752429264KCNH2n.3887C=
c.3054C= (p.Pro1018=)
c.2034C= (p.Pro678=)
c.2754C= (p.Pro918=)
c.*134C= (n.*134C=)
c.2904C= (p.Pro968=)
c.2877C= (p.Pro959=)
7g.150947426G>TCA458644887KCNH2n.3887C>A
c.3054C>A (p.Pro1018=)
c.2034C>A (p.Pro678=)
c.2754C>A (p.Pro918=)
c.*134C>A (n.*134C>A)
c.2904C>A (p.Pro968=)
c.2877C>A (p.Pro959=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947428_150947429insTGGGGGGGGGCA2685601939KCNH2n.3887_3888insCCCCCCACCC
c.3054_3055insCCCCCCACCC (p.Thr1019ProfsTer?)
c.2034_2035insCCCCCCACCC (p.Thr679ProfsTer?)
c.2754_2755insCCCCCCACCC (p.Thr919ProfsTer?)
c.*134_*135insCCCCCCACCC (n.*134_*135insCCCCCCACCC)
c.2904_2905insCCCCCCACCC (p.Thr969ProfsTer?)
c.2877_2878insCCCCCCACCC (p.Thr960ProfsTer?)
gnomAD v4
7g.150947430_150947431insGGGGGGCA2685601945KCNH2n.3887_3888insCCCCCC
c.3054_3055insCCCCCC (p.Pro1018_Thr1019insProPro)
c.2034_2035insCCCCCC (p.Pro678_Thr679insProPro)
c.2754_2755insCCCCCC (p.Pro918_Thr919insProPro)
c.*134_*135insCCCCCC (n.*134_*135insCCCCCC)
c.2904_2905insCCCCCC (p.Pro968_Thr969insProPro)
c.2877_2878insCCCCCC (p.Pro959_Thr960insProPro)
gnomAD v4
7g.150947430_150947431insGGGGGGGCA913188232KCNH2n.3887_3888insCCCCCCC
c.3054_3055insCCCCCCC (p.Thr1019ProfsTer?)
c.2034_2035insCCCCCCC (p.Thr679ProfsTer?)
c.2754_2755insCCCCCCC (p.Thr919ProfsTer?)
c.*134_*135insCCCCCCC (n.*134_*135insCCCCCCC)
c.2904_2905insCCCCCCC (p.Thr969ProfsTer?)
c.2877_2878insCCCCCCC (p.Thr960ProfsTer?)
gnomAD v4
7g.150947430_150947431insGGGGGGGGGGCA2685601948KCNH2n.3887_3888insCCCCCCCCCC
c.3054_3055insCCCCCCCCCC (p.Thr1019ProfsTer?)
c.2034_2035insCCCCCCCCCC (p.Thr679ProfsTer?)
c.2754_2755insCCCCCCCCCC (p.Thr919ProfsTer?)
c.*134_*135insCCCCCCCCCC (n.*134_*135insCCCCCCCCCC)
c.2904_2905insCCCCCCCCCC (p.Thr969ProfsTer?)
c.2877_2878insCCCCCCCCCC (p.Thr960ProfsTer?)
gnomAD v4
7g.150947430_150947431insGGGGGGGGGGGCA2685601946KCNH2n.3887_3888insCCCCCCCCCCC
c.3054_3055insCCCCCCCCCCC (p.Thr1019ProfsTer?)
c.2034_2035insCCCCCCCCCCC (p.Thr679ProfsTer?)
c.2754_2755insCCCCCCCCCCC (p.Thr919ProfsTer?)
c.*134_*135insCCCCCCCCCCC (n.*134_*135insCCCCCCCCCCC)
c.2904_2905insCCCCCCCCCCC (p.Thr969ProfsTer?)
c.2877_2878insCCCCCCCCCCC (p.Thr960ProfsTer?)
gnomAD v4
7g.150947430_150947431insGGGGGGGGGGGGGCA2685601941KCNH2n.3887_3888insCCCCCCCCCCCCC
c.3054_3055insCCCCCCCCCCCCC (p.Thr1019ProfsTer?)
c.2034_2035insCCCCCCCCCCCCC (p.Thr679ProfsTer?)
c.2754_2755insCCCCCCCCCCCCC (p.Thr919ProfsTer?)
c.*134_*135insCCCCCCCCCCCCC (n.*134_*135insCCCCCCCCCCCCC)
c.2904_2905insCCCCCCCCCCCCC (p.Thr969ProfsTer?)
c.2877_2878insCCCCCCCCCCCCC (p.Thr960ProfsTer?)
gnomAD v4
7g.150947430_150947431insGGGGGGGGGGGGGGGCA2685601947KCNH2n.3887_3888insCCCCCCCCCCCCCCC
c.3054_3055insCCCCCCCCCCCCCCC (p.Pro1018_Thr1019insProProProProPro)
c.2034_2035insCCCCCCCCCCCCCCC (p.Pro678_Thr679insProProProProPro)
c.2754_2755insCCCCCCCCCCCCCCC (p.Pro918_Thr919insProProProProPro)
c.*134_*135insCCCCCCCCCCCCCCC (n.*134_*135insCCCCCCCCCCCCCCC)
c.2904_2905insCCCCCCCCCCCCCCC (p.Pro968_Thr969insProProProProPro)
c.2877_2878insCCCCCCCCCCCCCCC (p.Pro959_Thr960insProProProProPro)
gnomAD v4
7g.150947430_150947431insGGGGGGGGGGGGGGGGCA2685601942KCNH2n.3887_3888insCCCCCCCCCCCCCCCC
c.3054_3055insCCCCCCCCCCCCCCCC (p.Thr1019ProfsTer?)
c.2034_2035insCCCCCCCCCCCCCCCC (p.Thr679ProfsTer?)
c.2754_2755insCCCCCCCCCCCCCCCC (p.Thr919ProfsTer?)
c.*134_*135insCCCCCCCCCCCCCCCC (n.*134_*135insCCCCCCCCCCCCCCCC)
c.2904_2905insCCCCCCCCCCCCCCCC (p.Thr969ProfsTer?)
c.2877_2878insCCCCCCCCCCCCCCCC (p.Thr960ProfsTer?)
dbSNP gnomAD v4
7g.150947430_150947431insGGGGGGGGGGGGGGGGGGCA2685601943KCNH2n.3887_3888insCCCCCCCCCCCCCCCCCC
c.3054_3055insCCCCCCCCCCCCCCCCCC (p.Pro1018_Thr1019insProProProProProPro)
c.2034_2035insCCCCCCCCCCCCCCCCCC (p.Pro678_Thr679insProProProProProPro)
c.2754_2755insCCCCCCCCCCCCCCCCCC (p.Pro918_Thr919insProProProProProPro)
c.*134_*135insCCCCCCCCCCCCCCCCCC (n.*134_*135insCCCCCCCCCCCCCCCCCC)
c.2904_2905insCCCCCCCCCCCCCCCCCC (p.Pro968_Thr969insProProProProProPro)
c.2877_2878insCCCCCCCCCCCCCCCCCC (p.Pro959_Thr960insProProProProProPro)
gnomAD v4
7g.150947430_150947431insGGGGGGGGGGGGGGGGGGGGGCA2778425795KCNH2n.3887_3888insCCCCCCCCCCCCCCCCCCCCC
c.3054_3055insCCCCCCCCCCCCCCCCCCCCC (p.Pro1018_Thr1019insProProProProProProPro)
c.2034_2035insCCCCCCCCCCCCCCCCCCCCC (p.Pro678_Thr679insProProProProProProPro)
c.2754_2755insCCCCCCCCCCCCCCCCCCCCC (p.Pro918_Thr919insProProProProProProPro)
c.*134_*135insCCCCCCCCCCCCCCCCCCCCC (n.*134_*135insCCCCCCCCCCCCCCCCCCCCC)
c.2904_2905insCCCCCCCCCCCCCCCCCCCCC (p.Pro968_Thr969insProProProProProProPro)
c.2877_2878insCCCCCCCCCCCCCCCCCCCCC (p.Pro959_Thr960insProProProProProProPro)
7g.150947430_150947431insTTGTGGTGGGGGGGGGGGGGGGGGGCA2685601938KCNH2n.3887_3888insCCCCCCCCCCCCCACCACAACCCCC
c.3054_3055insCCCCCCCCCCCCCACCACAACCCCC (p.Thr1019ProfsTer?)
c.2034_2035insCCCCCCCCCCCCCACCACAACCCCC (p.Thr679ProfsTer?)
c.2754_2755insCCCCCCCCCCCCCACCACAACCCCC (p.Thr919ProfsTer?)
c.*134_*135insCCCCCCCCCCCCCACCACAACCCCC (n.*134_*135insCCCCCCCCCCCCCACCACAACCCCC)
c.2904_2905insCCCCCCCCCCCCCACCACAACCCCC (p.Thr969ProfsTer?)
c.2877_2878insCCCCCCCCCCCCCACCACAACCCCC (p.Thr960ProfsTer?)
gnomAD v4
7g.150947430_150947431insGTTTTTGGGGGGGGGGGGGGGGGGGGGCA2685601937KCNH2n.3887_3888insCCCCCCCCCCCCCCCCAAAAACCCCCC
c.3054_3055insCCCCCCCCCCCCCCCCAAAAACCCCCC (p.Pro1018_Thr1019insProProProProProGlnLysProPro)
c.2034_2035insCCCCCCCCCCCCCCCCAAAAACCCCCC (p.Pro678_Thr679insProProProProProGlnLysProPro)
c.2754_2755insCCCCCCCCCCCCCCCCAAAAACCCCCC (p.Pro918_Thr919insProProProProProGlnLysProPro)
c.*134_*135insCCCCCCCCCCCCCCCCAAAAACCCCCC (n.*134_*135insCCCCCCCCCCCCCCCCAAAAACCCCCC)
c.2904_2905insCCCCCCCCCCCCCCCCAAAAACCCCCC (p.Pro968_Thr969insProProProProProGlnLysProPro)
c.2877_2878insCCCCCCCCCCCCCCCCAAAAACCCCCC (p.Pro959_Thr960insProProProProProGlnLysProPro)
gnomAD v4
7g.150947430_150947431insGGGGGGTTGTGGGGGGGGGGGGGGGGGGGGGCA2685601936KCNH2n.3887_3888insCCCCCCCCCCCCCCCCACAACCCCCCCCCCC
c.3054_3055insCCCCCCCCCCCCCCCCACAACCCCCCCCCCC (p.Thr1019ProfsTer?)
c.2034_2035insCCCCCCCCCCCCCCCCACAACCCCCCCCCCC (p.Thr679ProfsTer?)
c.2754_2755insCCCCCCCCCCCCCCCCACAACCCCCCCCCCC (p.Thr919ProfsTer?)
c.*134_*135insCCCCCCCCCCCCCCCCACAACCCCCCCCCCC (n.*134_*135insCCCCCCCCCCCCCCCCACAACCCCCCCCCCC)
c.2904_2905insCCCCCCCCCCCCCCCCACAACCCCCCCCCCC (p.Thr969ProfsTer?)
c.2877_2878insCCCCCCCCCCCCCCCCACAACCCCCCCCCCC (p.Thr960ProfsTer?)
gnomAD v4
7g.150947430dupCA2550808594KCNH2n.3887dup
c.3054dup (p.Thr1019HisfsTer?)
c.2034dup (p.Thr679HisfsTer?)
c.2754dup (p.Thr919HisfsTer?)
c.*134dup (n.*134dup)
c.2904dup (p.Thr969HisfsTer?)
c.2877dup (p.Thr960HisfsTer?)
7g.150947426_150947430dupCA2685601944KCNH2n.3883_3887dup
c.3050_3054dup (p.Thr1019ProfsTer?)
c.2030_2034dup (p.Thr679ProfsTer?)
c.2750_2754dup (p.Thr919ProfsTer?)
c.*130_*134dup (n.*130_*134dup)
c.2900_2904dup (p.Thr969ProfsTer?)
c.2873_2877dup (p.Thr960ProfsTer?)
gnomAD v4
7g.150947430delCA658797032KCNH2n.3887del
c.3054del (p.Thr1019ProfsTer?)
c.2034del (p.Thr679ProfsTer?)
c.2754del (p.Thr919ProfsTer?)
c.*134del (n.*134del)
c.2904del (p.Thr969ProfsTer?)
c.2877del (p.Thr960ProfsTer?)
ClinVar dbSNP gnomAD v4
7g.150947430_150947435delCA1752429262KCNH2n.3882_3887del
c.3049_3054del (p.Ala1017_Pro1018del)
c.2029_2034del (p.Ala677_Pro678del)
c.2749_2754del (p.Ala917_Pro918del)
c.*129_*134del (n.*129_*134del)
c.2899_2904del (p.Ala967_Pro968del)
c.2872_2877del (p.Ala958_Pro959del)
dbSNP gnomAD v4
7g.150947427G>ACA169072005KCNH2n.3886C>T
c.3053C>T (p.Pro1018Leu)
c.2033C>T (p.Pro678Leu)
c.2753C>T (p.Pro918Leu)
c.*133C>T (n.*133C>T)
c.2903C>T (p.Pro968Leu)
c.2876C>T (p.Pro959Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947427G>CCA369852803KCNH2n.3886C>G
c.3053C>G (p.Pro1018Arg)
c.2033C>G (p.Pro678Arg)
c.2753C>G (p.Pro918Arg)
c.*133C>G (n.*133C>G)
c.2903C>G (p.Pro968Arg)
c.2876C>G (p.Pro959Arg)
7g.150947427G=CA1752429272KCNH2n.3886C=
c.3053C= (p.Pro1018=)
c.2033C= (p.Pro678=)
c.2753C= (p.Pro918=)
c.*133C= (n.*133C=)
c.2903C= (p.Pro968=)
c.2876C= (p.Pro959=)
7g.150947427G>TCA369852801KCNH2n.3886C>A
c.3053C>A (p.Pro1018His)
c.2033C>A (p.Pro678His)
c.2753C>A (p.Pro918His)
c.*133C>A (n.*133C>A)
c.2903C>A (p.Pro968His)
c.2876C>A (p.Pro959His)
gnomAD v4
7g.150947428G>ACA169072026KCNH2n.3885C>T
c.3052C>T (p.Pro1018Ser)
c.2032C>T (p.Pro678Ser)
c.2752C>T (p.Pro918Ser)
c.*132C>T (n.*132C>T)
c.2902C>T (p.Pro968Ser)
c.2875C>T (p.Pro959Ser)
dbSNP
7g.150947428G>CCA007858KCNH2n.3885C>G
c.3052C>G (p.Pro1018Ala)
c.2032C>G (p.Pro678Ala)
c.2752C>G (p.Pro918Ala)
c.*132C>G (n.*132C>G)
c.2902C>G (p.Pro968Ala)
c.2875C>G (p.Pro959Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947428G=CA1752429278KCNH2n.3885C=
c.3052C= (p.Pro1018=)
c.2032C= (p.Pro678=)
c.2752C= (p.Pro918=)
c.*132C= (n.*132C=)
c.2902C= (p.Pro968=)
c.2875C= (p.Pro959=)
7g.150947428G>TCA369852806KCNH2n.3885C>A
c.3052C>A (p.Pro1018Thr)
c.2032C>A (p.Pro678Thr)
c.2752C>A (p.Pro918Thr)
c.*132C>A (n.*132C>A)
c.2902C>A (p.Pro968Thr)
c.2875C>A (p.Pro959Thr)
gnomAD v4
7g.150947429G>ACA169072031KCNH2n.3884C>T
c.3051C>T (p.Ala1017=)
c.2031C>T (p.Ala677=)
c.2751C>T (p.Ala917=)
c.*131C>T (n.*131C>T)
c.2901C>T (p.Ala967=)
c.2874C>T (p.Ala958=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947429G>CCA458644889KCNH2n.3884C>G
c.3051C>G (p.Ala1017=)
c.2031C>G (p.Ala677=)
c.2751C>G (p.Ala917=)
c.*131C>G (n.*131C>G)
c.2901C>G (p.Ala967=)
c.2874C>G (p.Ala958=)
7g.150947429G=CA1752429284KCNH2n.3884C=
c.3051C= (p.Ala1017=)
c.2031C= (p.Ala677=)
c.2751C= (p.Ala917=)
c.*131C= (n.*131C=)
c.2901C= (p.Ala967=)
c.2874C= (p.Ala958=)
7g.150947429G>TCA169072038KCNH2n.3884C>A
c.3051C>A (p.Ala1017=)
c.2031C>A (p.Ala677=)
c.2751C>A (p.Ala917=)
c.*131C>A (n.*131C>A)
c.2901C>A (p.Ala967=)
c.2874C>A (p.Ala958=)
ClinVar dbSNP gnomAD v4
7g.150947430G>ACA369852808KCNH2n.3883C>T
c.3050C>T (p.Ala1017Val)
c.2030C>T (p.Ala677Val)
c.2750C>T (p.Ala917Val)
c.*130C>T (n.*130C>T)
c.2900C>T (p.Ala967Val)
c.2873C>T (p.Ala958Val)
dbSNP gnomAD v2 gnomAD v4
7g.150947430G>CCA369852810KCNH2n.3883C>G
c.3050C>G (p.Ala1017Gly)
c.2030C>G (p.Ala677Gly)
c.2750C>G (p.Ala917Gly)
c.*130C>G (n.*130C>G)
c.2900C>G (p.Ala967Gly)
c.2873C>G (p.Ala958Gly)
7g.150947430G=CA1752429297KCNH2n.3883C=
c.3050C= (p.Ala1017=)
c.2030C= (p.Ala677=)
c.2750C= (p.Ala917=)
c.*130C= (n.*130C=)
c.2900C= (p.Ala967=)
c.2873C= (p.Ala958=)
7g.150947430G>TCA369852812KCNH2n.3883C>A
c.3050C>A (p.Ala1017Asp)
c.2030C>A (p.Ala677Asp)
c.2750C>A (p.Ala917Asp)
c.*130C>A (n.*130C>A)
c.2900C>A (p.Ala967Asp)
c.2873C>A (p.Ala958Asp)
gnomAD v4
7g.150947431C>ACA169072043KCNH2n.3882G>T
c.3049G>T (p.Ala1017Ser)
c.2029G>T (p.Ala677Ser)
c.2749G>T (p.Ala917Ser)
c.*129G>T (n.*129G>T)
c.2899G>T (p.Ala967Ser)
c.2872G>T (p.Ala958Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947431C=CA1752429301KCNH2n.3882G=
c.3049G= (p.Ala1017=)
c.2029G= (p.Ala677=)
c.2749G= (p.Ala917=)
c.*129G= (n.*129G=)
c.2899G= (p.Ala967=)
c.2872G= (p.Ala958=)
7g.150947431C>GCA369852814KCNH2n.3882G>C
c.3049G>C (p.Ala1017Pro)
c.2029G>C (p.Ala677Pro)
c.2749G>C (p.Ala917Pro)
c.*129G>C (n.*129G>C)
c.2899G>C (p.Ala967Pro)
c.2872G>C (p.Ala958Pro)
dbSNP gnomAD v4
7g.150947431C>TCA369852815KCNH2n.3882G>A
c.3049G>A (p.Ala1017Thr)
c.2029G>A (p.Ala677Thr)
c.2749G>A (p.Ala917Thr)
c.*129G>A (n.*129G>A)
c.2899G>A (p.Ala967Thr)
c.2872G>A (p.Ala958Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947431_150947441delCA2695208794KCNH2n.3872_3882del
c.3039_3049del (p.Arg1014ProfsTer?)
c.2019_2029del (p.Arg674ProfsTer?)
c.2739_2749del (p.Arg914ProfsTer?)
c.*119_*129del (n.*119_*129del)
c.2889_2899del (p.Arg964ProfsTer?)
c.2862_2872del (p.Arg955ProfsTer?)
7g.150947432G>ACA036382KCNH2n.3881C>T
c.3048C>T (p.Pro1016=)
c.2028C>T (p.Pro676=)
c.2748C>T (p.Pro916=)
c.*128C>T (n.*128C>T)
c.2898C>T (p.Pro966=)
c.2871C>T (p.Pro957=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947432G>CCA458644891KCNH2n.3881C>G
c.3048C>G (p.Pro1016=)
c.2028C>G (p.Pro676=)
c.2748C>G (p.Pro916=)
c.*128C>G (n.*128C>G)
c.2898C>G (p.Pro966=)
c.2871C>G (p.Pro957=)
gnomAD v4
7g.150947432G=CA1752429308KCNH2n.3881C=
c.3048C= (p.Pro1016=)
c.2028C= (p.Pro676=)
c.2748C= (p.Pro916=)
c.*128C= (n.*128C=)
c.2898C= (p.Pro966=)
c.2871C= (p.Pro957=)
7g.150947432G>TCA458644892KCNH2n.3881C>A
c.3048C>A (p.Pro1016=)
c.2028C>A (p.Pro676=)
c.2748C>A (p.Pro916=)
c.*128C>A (n.*128C>A)
c.2898C>A (p.Pro966=)
c.2871C>A (p.Pro957=)
gnomAD v4
7g.150947433_150947434insTGGGGGGGGGGGGGGGGGGCA2685601949KCNH2n.3881_3882insCCCCCCCCCCCCCCCCACC
c.3048_3049insCCCCCCCCCCCCCCCCACC (p.Ala1017ProfsTer?)
c.2028_2029insCCCCCCCCCCCCCCCCACC (p.Ala677ProfsTer?)
c.2748_2749insCCCCCCCCCCCCCCCCACC (p.Ala917ProfsTer?)
c.*128_*129insCCCCCCCCCCCCCCCCACC (n.*128_*129insCCCCCCCCCCCCCCCCACC)
c.2898_2899insCCCCCCCCCCCCCCCCACC (p.Ala967ProfsTer?)
c.2871_2872insCCCCCCCCCCCCCCCCACC (p.Ala958ProfsTer?)
gnomAD v4
7g.150947435_150947436insGGGGGGGGGGGGGCA913188233KCNH2n.3881_3882insCCCCCCCCCCCCC
c.3048_3049insCCCCCCCCCCCCC (p.Ala1017ProfsTer?)
c.2028_2029insCCCCCCCCCCCCC (p.Ala677ProfsTer?)
c.2748_2749insCCCCCCCCCCCCC (p.Ala917ProfsTer?)
c.*128_*129insCCCCCCCCCCCCC (n.*128_*129insCCCCCCCCCCCCC)
c.2898_2899insCCCCCCCCCCCCC (p.Ala967ProfsTer?)
c.2871_2872insCCCCCCCCCCCCC (p.Ala958ProfsTer?)
gnomAD v4
7g.150947435_150947436insGGGGGGGGGGGGGGGGCA2685601950KCNH2n.3881_3882insCCCCCCCCCCCCCCCC
c.3048_3049insCCCCCCCCCCCCCCCC (p.Ala1017ProfsTer?)
c.2028_2029insCCCCCCCCCCCCCCCC (p.Ala677ProfsTer?)
c.2748_2749insCCCCCCCCCCCCCCCC (p.Ala917ProfsTer?)
c.*128_*129insCCCCCCCCCCCCCCCC (n.*128_*129insCCCCCCCCCCCCCCCC)
c.2898_2899insCCCCCCCCCCCCCCCC (p.Ala967ProfsTer?)
c.2871_2872insCCCCCCCCCCCCCCCC (p.Ala958ProfsTer?)
gnomAD v4
7g.150947432_150947444delCA2695208795KCNH2n.3869_3881del
c.3036_3048del (p.Arg1014ProfsTer?)
c.2016_2028del (p.Arg674ProfsTer?)
c.2736_2748del (p.Arg914ProfsTer?)
c.*116_*128del (n.*116_*128del)
c.2886_2898del (p.Arg964ProfsTer?)
c.2859_2871del (p.Arg955ProfsTer?)
7g.150947433G>ACA169072044KCNH2n.3880C>T
c.3047C>T (p.Pro1016Leu)
c.2027C>T (p.Pro676Leu)
c.2747C>T (p.Pro916Leu)
c.*127C>T (n.*127C>T)
c.2897C>T (p.Pro966Leu)
c.2870C>T (p.Pro957Leu)
dbSNP gnomAD v4
7g.150947433G>CCA369852820KCNH2n.3880C>G
c.3047C>G (p.Pro1016Arg)
c.2027C>G (p.Pro676Arg)
c.2747C>G (p.Pro916Arg)
c.*127C>G (n.*127C>G)
c.2897C>G (p.Pro966Arg)
c.2870C>G (p.Pro957Arg)
7g.150947433G=CA1752429312KCNH2n.3880C=
c.3047C= (p.Pro1016=)
c.2027C= (p.Pro676=)
c.2747C= (p.Pro916=)
c.*127C= (n.*127C=)
c.2897C= (p.Pro966=)
c.2870C= (p.Pro957=)
7g.150947433G>TCA369852818KCNH2n.3880C>A
c.3047C>A (p.Pro1016His)
c.2027C>A (p.Pro676His)
c.2747C>A (p.Pro916His)
c.*127C>A (n.*127C>A)
c.2897C>A (p.Pro966His)
c.2870C>A (p.Pro957His)
gnomAD v4
7g.150947434G>ACA169072048KCNH2n.3879C>T
c.3046C>T (p.Pro1016Ser)
c.2026C>T (p.Pro676Ser)
c.2746C>T (p.Pro916Ser)
c.*126C>T (n.*126C>T)
c.2896C>T (p.Pro966Ser)
c.2869C>T (p.Pro957Ser)
dbSNP
7g.150947434G>CCA369852821KCNH2n.3879C>G
c.3046C>G (p.Pro1016Ala)
c.2026C>G (p.Pro676Ala)
c.2746C>G (p.Pro916Ala)
c.*126C>G (n.*126C>G)
c.2896C>G (p.Pro966Ala)
c.2869C>G (p.Pro957Ala)
7g.150947434G=CA1752429316KCNH2n.3879C=
c.3046C= (p.Pro1016=)
c.2026C= (p.Pro676=)
c.2746C= (p.Pro916=)
c.*126C= (n.*126C=)
c.2896C= (p.Pro966=)
c.2869C= (p.Pro957=)
7g.150947434G>TCA369852823KCNH2n.3879C>A
c.3046C>A (p.Pro1016Thr)
c.2026C>A (p.Pro676Thr)
c.2746C>A (p.Pro916Thr)
c.*126C>A (n.*126C>A)
c.2896C>A (p.Pro966Thr)
c.2869C>A (p.Pro957Thr)
gnomAD v4
7g.150947435G>ACA458644897KCNH2n.3878C>T
c.3045C>T (p.Cys1015=)
c.2025C>T (p.Cys675=)
c.2745C>T (p.Cys915=)
c.*125C>T (n.*125C>T)
c.2895C>T (p.Cys965=)
c.2868C>T (p.Cys956=)
ClinVar dbSNP gnomAD v4
7g.150947435G>CCA369852825KCNH2n.3878C>G
c.3045C>G (p.Cys1015Trp)
c.2025C>G (p.Cys675Trp)
c.2745C>G (p.Cys915Trp)
c.*125C>G (n.*125C>G)
c.2895C>G (p.Cys965Trp)
c.2868C>G (p.Cys956Trp)
7g.150947435G=CA1752429319KCNH2n.3878C=
c.3045C= (p.Cys1015=)
c.2025C= (p.Cys675=)
c.2745C= (p.Cys915=)
c.*125C= (n.*125C=)
c.2895C= (p.Cys965=)
c.2868C= (p.Cys956=)
7g.150947435G>TCA369852827KCNH2n.3878C>A
c.3045C>A (p.Cys1015Ter)
c.2025C>A (p.Cys675Ter)
c.2745C>A (p.Cys915Ter)
c.*125C>A (n.*125C>A)
c.2895C>A (p.Cys965Ter)
c.2868C>A (p.Cys956Ter)
gnomAD v4
7g.150947436C>ACA369852828KCNH2n.3877G>T
c.3044G>T (p.Cys1015Phe)
c.2024G>T (p.Cys675Phe)
c.2744G>T (p.Cys915Phe)
c.*124G>T (n.*124G>T)
c.2894G>T (p.Cys965Phe)
c.2867G>T (p.Cys956Phe)
gnomAD v4
7g.150947436C=CA1752429321KCNH2n.3877G=
c.3044G= (p.Cys1015=)
c.2024G= (p.Cys675=)
c.2744G= (p.Cys915=)
c.*124G= (n.*124G=)
c.2894G= (p.Cys965=)
c.2867G= (p.Cys956=)
7g.150947436C>GCA369852830KCNH2n.3877G>C
c.3044G>C (p.Cys1015Ser)
c.2024G>C (p.Cys675Ser)
c.2744G>C (p.Cys915Ser)
c.*124G>C (n.*124G>C)
c.2894G>C (p.Cys965Ser)
c.2867G>C (p.Cys956Ser)
7g.150947436C>TCA369852832KCNH2n.3877G>A
c.3044G>A (p.Cys1015Tyr)
c.2024G>A (p.Cys675Tyr)
c.2744G>A (p.Cys915Tyr)
c.*124G>A (n.*124G>A)
c.2894G>A (p.Cys965Tyr)
c.2867G>A (p.Cys956Tyr)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947437A=CA1752429324KCNH2n.3876T=
c.3043T= (p.Cys1015=)
c.2023T= (p.Cys675=)
c.2743T= (p.Cys915=)
c.*123T= (n.*123T=)
c.2893T= (p.Cys965=)
c.2866T= (p.Cys956=)
7g.150947437A>CCA369852834KCNH2n.3876T>G
c.3043T>G (p.Cys1015Gly)
c.2023T>G (p.Cys675Gly)
c.2743T>G (p.Cys915Gly)
c.*123T>G (n.*123T>G)
c.2893T>G (p.Cys965Gly)
c.2866T>G (p.Cys956Gly)
7g.150947437A>GCA369852835KCNH2n.3876T>C
c.3043T>C (p.Cys1015Arg)
c.2023T>C (p.Cys675Arg)
c.2743T>C (p.Cys915Arg)
c.*123T>C (n.*123T>C)
c.2893T>C (p.Cys965Arg)
c.2866T>C (p.Cys956Arg)
ClinVar dbSNP gnomAD v4
7g.150947437A>TCA369852836KCNH2n.3876T>A
c.3043T>A (p.Cys1015Ser)
c.2023T>A (p.Cys675Ser)
c.2743T>A (p.Cys915Ser)
c.*123T>A (n.*123T>A)
c.2893T>A (p.Cys965Ser)
c.2866T>A (p.Cys956Ser)
7g.150947438T>ACA458644899KCNH2n.3875A>T
c.3042A>T (p.Arg1014=)
c.2022A>T (p.Arg674=)
c.2742A>T (p.Arg914=)
c.*122A>T (n.*122A>T)
c.2892A>T (p.Arg964=)
c.2865A>T (p.Arg955=)
gnomAD v4
7g.150947438T>CCA458644901KCNH2n.3875A>G
c.3042A>G (p.Arg1014=)
c.2022A>G (p.Arg674=)
c.2742A>G (p.Arg914=)
c.*122A>G (n.*122A>G)
c.2892A>G (p.Arg964=)
c.2865A>G (p.Arg955=)
7g.150947438T>GCA458644903KCNH2n.3875A>C
c.3042A>C (p.Arg1014=)
c.2022A>C (p.Arg674=)
c.2742A>C (p.Arg914=)
c.*122A>C (n.*122A>C)
c.2892A>C (p.Arg964=)
c.2865A>C (p.Arg955=)
7g.150947439C>ACA369852839KCNH2n.3874G>T
c.3041G>T (p.Arg1014Leu)
c.2021G>T (p.Arg674Leu)
c.2741G>T (p.Arg914Leu)
c.*121G>T (n.*121G>T)
c.2891G>T (p.Arg964Leu)
c.2864G>T (p.Arg955Leu)
gnomAD v4
7g.150947439C=CA1752429326KCNH2n.3874G=
c.3041G= (p.Arg1014=)
c.2021G= (p.Arg674=)
c.2741G= (p.Arg914=)
c.*121G= (n.*121G=)
c.2891G= (p.Arg964=)
c.2864G= (p.Arg955=)
7g.150947439C>GCA369852841KCNH2n.3874G>C
c.3041G>C (p.Arg1014Pro)
c.2021G>C (p.Arg674Pro)
c.2741G>C (p.Arg914Pro)
c.*121G>C (n.*121G>C)
c.2891G>C (p.Arg964Pro)
c.2864G>C (p.Arg955Pro)
7g.150947439C>TCA169072052KCNH2n.3874G>A
c.3041G>A (p.Arg1014Gln)
c.2021G>A (p.Arg674Gln)
c.2741G>A (p.Arg914Gln)
c.*121G>A (n.*121G>A)
c.2891G>A (p.Arg964Gln)
c.2864G>A (p.Arg955Gln)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947440G>ACA007849KCNH2n.3873C>T
c.3040C>T (p.Arg1014Ter)
c.2020C>T (p.Arg674Ter)
c.2740C>T (p.Arg914Ter)
c.*120C>T (n.*120C>T)
c.2890C>T (p.Arg964Ter)
c.2863C>T (p.Arg955Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947440G>CCA369852843KCNH2n.3873C>G
c.3040C>G (p.Arg1014Gly)
c.2020C>G (p.Arg674Gly)
c.2740C>G (p.Arg914Gly)
c.*120C>G (n.*120C>G)
c.2890C>G (p.Arg964Gly)
c.2863C>G (p.Arg955Gly)
7g.150947440G=CA1752429329KCNH2n.3873C=
c.3040C= (p.Arg1014=)
c.2020C= (p.Arg674=)
c.2740C= (p.Arg914=)
c.*120C= (n.*120C=)
c.2890C= (p.Arg964=)
c.2863C= (p.Arg955=)
7g.150947440G>TCA458644904KCNH2n.3873C>A
c.3040C>A (p.Arg1014=)
c.2020C>A (p.Arg674=)
c.2740C>A (p.Arg914=)
c.*120C>A (n.*120C>A)
c.2890C>A (p.Arg964=)
c.2863C>A (p.Arg955=)
7g.150947441delCA2573141848KCNH2n.3872del
c.3039del (p.Arg1014AspfsTer?)
c.2019del (p.Arg674AspfsTer?)
c.2739del (p.Arg914AspfsTer?)
c.*119del (n.*119del)
c.2889del (p.Arg964AspfsTer?)
c.2862del (p.Arg955AspfsTer?)
ClinVar dbSNP
7g.150947441A=CA1752429330KCNH2n.3872T=
c.3039T= (p.Pro1013=)
c.2019T= (p.Pro673=)
c.2739T= (p.Pro913=)
c.*119T= (n.*119T=)
c.2889T= (p.Pro963=)
c.2862T= (p.Pro954=)
7g.150947441A>CCA458644905KCNH2n.3872T>G
c.3039T>G (p.Pro1013=)
c.2019T>G (p.Pro673=)
c.2739T>G (p.Pro913=)
c.*119T>G (n.*119T>G)
c.2889T>G (p.Pro963=)
c.2862T>G (p.Pro954=)
7g.150947441A>GCA458644906KCNH2n.3872T>C
c.3039T>C (p.Pro1013=)
c.2019T>C (p.Pro673=)
c.2739T>C (p.Pro913=)
c.*119T>C (n.*119T>C)
c.2889T>C (p.Pro963=)
c.2862T>C (p.Pro954=)
dbSNP gnomAD v4
7g.150947441A>TCA458644907KCNH2n.3872T>A
c.3039T>A (p.Pro1013=)
c.2019T>A (p.Pro673=)
c.2739T>A (p.Pro913=)
c.*119T>A (n.*119T>A)
c.2889T>A (p.Pro963=)
c.2862T>A (p.Pro954=)
7g.150947442G>ACA369852845KCNH2n.3871C>T
c.3038C>T (p.Pro1013Leu)
c.2018C>T (p.Pro673Leu)
c.2738C>T (p.Pro913Leu)
c.*118C>T (n.*118C>T)
c.2888C>T (p.Pro963Leu)
c.2861C>T (p.Pro954Leu)
gnomAD v4
7g.150947442G>CCA369852847KCNH2n.3871C>G
c.3038C>G (p.Pro1013Arg)
c.2018C>G (p.Pro673Arg)
c.2738C>G (p.Pro913Arg)
c.*118C>G (n.*118C>G)
c.2888C>G (p.Pro963Arg)
c.2861C>G (p.Pro954Arg)
ClinVar dbSNP gnomAD v4
7g.150947442G>TCA369852848KCNH2n.3871C>A
c.3038C>A (p.Pro1013His)
c.2018C>A (p.Pro673His)
c.2738C>A (p.Pro913His)
c.*118C>A (n.*118C>A)
c.2888C>A (p.Pro963His)
c.2861C>A (p.Pro954His)
gnomAD v4
7g.150947444delCA2579062775KCNH2n.3871del
c.3038del (p.Pro1013LeufsTer?)
c.2018del (p.Pro673LeufsTer?)
c.2738del (p.Pro913LeufsTer?)
c.*118del (n.*118del)
c.2888del (p.Pro963LeufsTer?)
c.2861del (p.Pro954LeufsTer?)
7g.150947443G>ACA369852850KCNH2n.3870C>T
c.3037C>T (p.Pro1013Ser)
c.2017C>T (p.Pro673Ser)
c.2737C>T (p.Pro913Ser)
c.*117C>T (n.*117C>T)
c.2887C>T (p.Pro963Ser)
c.2860C>T (p.Pro954Ser)
gnomAD v4
7g.150947443G>CCA369852852KCNH2n.3870C>G
c.3037C>G (p.Pro1013Ala)
c.2017C>G (p.Pro673Ala)
c.2737C>G (p.Pro913Ala)
c.*117C>G (n.*117C>G)
c.2887C>G (p.Pro963Ala)
c.2860C>G (p.Pro954Ala)
gnomAD v4
7g.150947443G>TCA369852853KCNH2n.3870C>A
c.3037C>A (p.Pro1013Thr)
c.2017C>A (p.Pro673Thr)
c.2737C>A (p.Pro913Thr)
c.*117C>A (n.*117C>A)
c.2887C>A (p.Pro963Thr)
c.2860C>A (p.Pro954Thr)
gnomAD v4
7g.150947444G>ACA458644911KCNH2n.3869C>T
c.3036C>T (p.Leu1012=)
c.2016C>T (p.Leu672=)
c.2736C>T (p.Leu912=)
c.*116C>T (n.*116C>T)
c.2886C>T (p.Leu962=)
c.2859C>T (p.Leu953=)
gnomAD v4
7g.150947444G>CCA458644912KCNH2n.3869C>G
c.3036C>G (p.Leu1012=)
c.2016C>G (p.Leu672=)
c.2736C>G (p.Leu912=)
c.*116C>G (n.*116C>G)
c.2886C>G (p.Leu962=)
c.2859C>G (p.Leu953=)
gnomAD v4
7g.150947444G>TCA458644913KCNH2n.3869C>A
c.3036C>A (p.Leu1012=)
c.2016C>A (p.Leu672=)
c.2736C>A (p.Leu912=)
c.*116C>A (n.*116C>A)
c.2886C>A (p.Leu962=)
c.2859C>A (p.Leu953=)
gnomAD v4
7g.150947445A>CCA369852856KCNH2n.3868T>G
c.3035T>G (p.Leu1012Arg)
c.2015T>G (p.Leu672Arg)
c.2735T>G (p.Leu912Arg)
c.*115T>G (n.*115T>G)
c.2885T>G (p.Leu962Arg)
c.2858T>G (p.Leu953Arg)
7g.150947445A>GCA369852857KCNH2n.3868T>C
c.3035T>C (p.Leu1012Pro)
c.2015T>C (p.Leu672Pro)
c.2735T>C (p.Leu912Pro)
c.*115T>C (n.*115T>C)
c.2885T>C (p.Leu962Pro)
c.2858T>C (p.Leu953Pro)
7g.150947445A>TCA369852858KCNH2n.3868T>A
c.3035T>A (p.Leu1012His)
c.2015T>A (p.Leu672His)
c.2735T>A (p.Leu912His)
c.*115T>A (n.*115T>A)
c.2885T>A (p.Leu962His)
c.2858T>A (p.Leu953His)
7g.150947446G>ACA369852860KCNH2n.3867C>T
c.3034C>T (p.Leu1012Phe)
c.2014C>T (p.Leu672Phe)
c.2734C>T (p.Leu912Phe)
c.*114C>T (n.*114C>T)
c.2884C>T (p.Leu962Phe)
c.2857C>T (p.Leu953Phe)
7g.150947446G>CCA369852862KCNH2n.3867C>G
c.3034C>G (p.Leu1012Val)
c.2014C>G (p.Leu672Val)
c.2734C>G (p.Leu912Val)
c.*114C>G (n.*114C>G)
c.2884C>G (p.Leu962Val)
c.2857C>G (p.Leu953Val)
COSMIC COSMIC
7g.150947446G>TCA369852864KCNH2n.3867C>A
c.3034C>A (p.Leu1012Ile)
c.2014C>A (p.Leu672Ile)
c.2734C>A (p.Leu912Ile)
c.*114C>A (n.*114C>A)
c.2884C>A (p.Leu962Ile)
c.2857C>A (p.Leu953Ile)
gnomAD v4
7g.150947447C>ACA369852865KCNH2n.3866G>T
c.3033G>T (p.Glu1011Asp)
c.2013G>T (p.Glu671Asp)
c.2733G>T (p.Glu911Asp)
c.*113G>T (n.*113G>T)
c.2883G>T (p.Glu961Asp)
c.2856G>T (p.Glu952Asp)
gnomAD v4
7g.150947447C>GCA369852866KCNH2n.3866G>C
c.3033G>C (p.Glu1011Asp)
c.2013G>C (p.Glu671Asp)
c.2733G>C (p.Glu911Asp)
c.*113G>C (n.*113G>C)
c.2883G>C (p.Glu961Asp)
c.2856G>C (p.Glu952Asp)
7g.150947447C>TCA458644915KCNH2n.3866G>A
c.3033G>A (p.Glu1011=)
c.2013G>A (p.Glu671=)
c.2733G>A (p.Glu911=)
c.*113G>A (n.*113G>A)
c.2883G>A (p.Glu961=)
c.2856G>A (p.Glu952=)
7g.150947448_150947449delCA2695208796KCNH2n.3865_3866del
c.3032_3033del (p.Glu1011AlafsTer?)
c.2012_2013del (p.Glu671AlafsTer?)
c.2732_2733del (p.Glu911AlafsTer?)
c.*112_*113del (n.*112_*113del)
c.2882_2883del (p.Glu961AlafsTer?)
c.2855_2856del (p.Glu952AlafsTer?)
7g.150947448delCA2499218785KCNH2n.3865del
c.3032del (p.Glu1011GlyfsTer?)
c.2012del (p.Glu671GlyfsTer?)
c.2732del (p.Glu911GlyfsTer?)
c.*112del (n.*112del)
c.2882del (p.Glu961GlyfsTer?)
c.2855del (p.Glu952GlyfsTer?)
ClinVar dbSNP
7g.150947448T>ACA369852870KCNH2n.3865A>T
c.3032A>T (p.Glu1011Val)
c.2012A>T (p.Glu671Val)
c.2732A>T (p.Glu911Val)
c.*112A>T (n.*112A>T)
c.2882A>T (p.Glu961Val)
c.2855A>T (p.Glu952Val)
gnomAD v4
7g.150947448T>CCA369852872KCNH2n.3865A>G
c.3032A>G (p.Glu1011Gly)
c.2012A>G (p.Glu671Gly)
c.2732A>G (p.Glu911Gly)
c.*112A>G (n.*112A>G)
c.2882A>G (p.Glu961Gly)
c.2855A>G (p.Glu952Gly)
ClinVar dbSNP gnomAD v4
7g.150947448T>GCA369852869KCNH2n.3865A>C
c.3032A>C (p.Glu1011Ala)
c.2012A>C (p.Glu671Ala)
c.2732A>C (p.Glu911Ala)
c.*112A>C (n.*112A>C)
c.2882A>C (p.Glu961Ala)
c.2855A>C (p.Glu952Ala)
7g.150947448T=CA1752429332KCNH2n.3865A=
c.3032A= (p.Glu1011=)
c.2012A= (p.Glu671=)
c.2732A= (p.Glu911=)
c.*112A= (n.*112A=)
c.2882A= (p.Glu961=)
c.2855A= (p.Glu952=)
7g.150947449C>ACA369852876KCNH2n.3864G>T
c.3031G>T (p.Glu1011Ter)
c.2011G>T (p.Glu671Ter)
c.2731G>T (p.Glu911Ter)
c.*111G>T (n.*111G>T)
c.2881G>T (p.Glu961Ter)
c.2854G>T (p.Glu952Ter)
7g.150947449C=CA1752429333KCNH2n.3864G=
c.3031G= (p.Glu1011=)
c.2011G= (p.Glu671=)
c.2731G= (p.Glu911=)
c.*111G= (n.*111G=)
c.2881G= (p.Glu961=)
c.2854G= (p.Glu952=)
7g.150947449C>GCA369852878KCNH2n.3864G>C
c.3031G>C (p.Glu1011Gln)
c.2011G>C (p.Glu671Gln)
c.2731G>C (p.Glu911Gln)
c.*111G>C (n.*111G>C)
c.2881G>C (p.Glu961Gln)
c.2854G>C (p.Glu952Gln)
gnomAD v4
7g.150947449C>TCA369852874KCNH2n.3864G>A
c.3031G>A (p.Glu1011Lys)
c.2011G>A (p.Glu671Lys)
c.2731G>A (p.Glu911Lys)
c.*111G>A (n.*111G>A)
c.2881G>A (p.Glu961Lys)
c.2854G>A (p.Glu952Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947450dupCA169072055KCNH2n.3864dup
c.3031dup (p.Glu1011GlyfsTer?)
c.2011dup (p.Glu671GlyfsTer?)
c.2731dup (p.Glu911GlyfsTer?)
c.*111dup (n.*111dup)
c.2881dup (p.Glu961GlyfsTer?)
c.2854dup (p.Glu952GlyfsTer?)
dbSNP
7g.150947450C>ACA369852880KCNH2n.3863G>T
c.3030G>T (p.Gln1010His)
c.2010G>T (p.Gln670His)
c.2730G>T (p.Gln910His)
c.*110G>T (n.*110G>T)
c.2880G>T (p.Gln960His)
c.2853G>T (p.Gln951His)
gnomAD v4
7g.150947450C>GCA369852879KCNH2n.3863G>C
c.3030G>C (p.Gln1010His)
c.2010G>C (p.Gln670His)
c.2730G>C (p.Gln910His)
c.*110G>C (n.*110G>C)
c.2880G>C (p.Gln960His)
c.2853G>C (p.Gln951His)
7g.150947450C>TCA458644918KCNH2n.3863G>A
c.3030G>A (p.Gln1010=)
c.2010G>A (p.Gln670=)
c.2730G>A (p.Gln910=)
c.*110G>A (n.*110G>A)
c.2880G>A (p.Gln960=)
c.2853G>A (p.Gln951=)
7g.150947451T>ACA369852884KCNH2n.3862A>T
c.3029A>T (p.Gln1010Leu)
c.2009A>T (p.Gln670Leu)
c.2729A>T (p.Gln910Leu)
c.*109A>T (n.*109A>T)
c.2879A>T (p.Gln960Leu)
c.2852A>T (p.Gln951Leu)
7g.150947451T>CCA369852883KCNH2n.3862A>G
c.3029A>G (p.Gln1010Arg)
c.2009A>G (p.Gln670Arg)
c.2729A>G (p.Gln910Arg)
c.*109A>G (n.*109A>G)
c.2879A>G (p.Gln960Arg)
c.2852A>G (p.Gln951Arg)
gnomAD v4
7g.150947451T>GCA369852885KCNH2n.3862A>C
c.3029A>C (p.Gln1010Pro)
c.2009A>C (p.Gln670Pro)
c.2729A>C (p.Gln910Pro)
c.*109A>C (n.*109A>C)
c.2879A>C (p.Gln960Pro)
c.2852A>C (p.Gln951Pro)
7g.150947452G>ACA369852887KCNH2n.3861C>T
c.3028C>T (p.Gln1010Ter)
c.2008C>T (p.Gln670Ter)
c.2728C>T (p.Gln910Ter)
c.*108C>T (n.*108C>T)
c.2878C>T (p.Gln960Ter)
c.2851C>T (p.Gln951Ter)
7g.150947452G>CCA369852889KCNH2n.3861C>G
c.3028C>G (p.Gln1010Glu)
c.2008C>G (p.Gln670Glu)
c.2728C>G (p.Gln910Glu)
c.*108C>G (n.*108C>G)
c.2878C>G (p.Gln960Glu)
c.2851C>G (p.Gln951Glu)
gnomAD v4
7g.150947452G>TCA369852890KCNH2n.3861C>A
c.3028C>A (p.Gln1010Lys)
c.2008C>A (p.Gln670Lys)
c.2728C>A (p.Gln910Lys)
c.*108C>A (n.*108C>A)
c.2878C>A (p.Gln960Lys)
c.2851C>A (p.Gln951Lys)
gnomAD v4
7g.150947453G>ACA458644920KCNH2n.3860C>T
c.3027C>T (p.Tyr1009=)
c.2007C>T (p.Tyr669=)
c.2727C>T (p.Tyr909=)
c.*107C>T (n.*107C>T)
c.2877C>T (p.Tyr959=)
c.2850C>T (p.Tyr950=)
7g.150947453G>CCA16605072KCNH2n.3860C>G
c.3027C>G (p.Tyr1009Ter)
c.2007C>G (p.Tyr669Ter)
c.2727C>G (p.Tyr909Ter)
c.*107C>G (n.*107C>G)
c.2877C>G (p.Tyr959Ter)
c.2850C>G (p.Tyr950Ter)
ClinVar dbSNP
7g.150947453G=CA1752429336KCNH2n.3860C=
c.3027C= (p.Tyr1009=)
c.2007C= (p.Tyr669=)
c.2727C= (p.Tyr909=)
c.*107C= (n.*107C=)
c.2877C= (p.Tyr959=)
c.2850C= (p.Tyr950=)
7g.150947453G>TCA369852892KCNH2n.3860C>A
c.3027C>A (p.Tyr1009Ter)
c.2007C>A (p.Tyr669Ter)
c.2727C>A (p.Tyr909Ter)
c.*107C>A (n.*107C>A)
c.2877C>A (p.Tyr959Ter)
c.2850C>A (p.Tyr950Ter)
gnomAD v4
7g.150947454T>ACA369852894KCNH2n.3859A>T
c.3026A>T (p.Tyr1009Phe)
c.2006A>T (p.Tyr669Phe)
c.2726A>T (p.Tyr909Phe)
c.*106A>T (n.*106A>T)
c.2876A>T (p.Tyr959Phe)
c.2849A>T (p.Tyr950Phe)
7g.150947454T>CCA369852896KCNH2n.3859A>G
c.3026A>G (p.Tyr1009Cys)
c.2006A>G (p.Tyr669Cys)
c.2726A>G (p.Tyr909Cys)
c.*106A>G (n.*106A>G)
c.2876A>G (p.Tyr959Cys)
c.2849A>G (p.Tyr950Cys)
ClinVar dbSNP gnomAD v4
7g.150947454T>GCA369852898KCNH2n.3859A>C
c.3026A>C (p.Tyr1009Ser)
c.2006A>C (p.Tyr669Ser)
c.2726A>C (p.Tyr909Ser)
c.*106A>C (n.*106A>C)
c.2876A>C (p.Tyr959Ser)
c.2849A>C (p.Tyr950Ser)
7g.150947455A>CCA369852899KCNH2n.3858T>G
c.3025T>G (p.Tyr1009Asp)
c.2005T>G (p.Tyr669Asp)
c.2725T>G (p.Tyr909Asp)
c.*105T>G (n.*105T>G)
c.2875T>G (p.Tyr959Asp)
c.2848T>G (p.Tyr950Asp)
7g.150947455A>GCA369852900KCNH2n.3858T>C
c.3025T>C (p.Tyr1009His)
c.2005T>C (p.Tyr669His)
c.2725T>C (p.Tyr909His)
c.*105T>C (n.*105T>C)
c.2875T>C (p.Tyr959His)
c.2848T>C (p.Tyr950His)
gnomAD v4
7g.150947455A>TCA369852901KCNH2n.3858T>A
c.3025T>A (p.Tyr1009Asn)
c.2005T>A (p.Tyr669Asn)
c.2725T>A (p.Tyr909Asn)
c.*105T>A (n.*105T>A)
c.2875T>A (p.Tyr959Asn)
c.2848T>A (p.Tyr950Asn)
gnomAD v4
7g.150947456C>ACA369852902KCNH2n.3857G>T
c.3024G>T (p.Gln1008His)
c.2004G>T (p.Gln668His)
c.2724G>T (p.Gln908His)
c.*104G>T (n.*104G>T)
c.2874G>T (p.Gln958His)
c.2847G>T (p.Gln949His)
7g.150947456C=CA1752429339KCNH2n.3857G=
c.3024G= (p.Gln1008=)
c.2004G= (p.Gln668=)
c.2724G= (p.Gln908=)
c.*104G= (n.*104G=)
c.2874G= (p.Gln958=)
c.2847G= (p.Gln949=)
7g.150947456C>GCA369852903KCNH2n.3857G>C
c.3024G>C (p.Gln1008His)
c.2004G>C (p.Gln668His)
c.2724G>C (p.Gln908His)
c.*104G>C (n.*104G>C)
c.2874G>C (p.Gln958His)
c.2847G>C (p.Gln949His)
7g.150947456C>TCA458644923KCNH2n.3857G>A
c.3024G>A (p.Gln1008=)
c.2004G>A (p.Gln668=)
c.2724G>A (p.Gln908=)
c.*104G>A (n.*104G>A)
c.2874G>A (p.Gln958=)
c.2847G>A (p.Gln949=)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947457T>ACA369852904KCNH2n.3856A>T
c.3023A>T (p.Gln1008Leu)
c.2003A>T (p.Gln668Leu)
c.2723A>T (p.Gln908Leu)
c.*103A>T (n.*103A>T)
c.2873A>T (p.Gln958Leu)
c.2846A>T (p.Gln949Leu)
gnomAD v4
7g.150947457T>CCA369852906KCNH2n.3856A>G
c.3023A>G (p.Gln1008Arg)
c.2003A>G (p.Gln668Arg)
c.2723A>G (p.Gln908Arg)
c.*103A>G (n.*103A>G)
c.2873A>G (p.Gln958Arg)
c.2846A>G (p.Gln949Arg)
gnomAD v4
7g.150947457T>GCA369852905KCNH2n.3856A>C
c.3023A>C (p.Gln1008Pro)
c.2003A>C (p.Gln668Pro)
c.2723A>C (p.Gln908Pro)
c.*103A>C (n.*103A>C)
c.2873A>C (p.Gln958Pro)
c.2846A>C (p.Gln949Pro)
7g.150947458G>ACA369852907KCNH2n.3855C>T
c.3022C>T (p.Gln1008Ter)
c.2002C>T (p.Gln668Ter)
c.2722C>T (p.Gln908Ter)
c.*102C>T (n.*102C>T)
c.2872C>T (p.Gln958Ter)
c.2845C>T (p.Gln949Ter)
ClinVar gnomAD v4
7g.150947458G>CCA369852908KCNH2n.3855C>G
c.3022C>G (p.Gln1008Glu)
c.2002C>G (p.Gln668Glu)
c.2722C>G (p.Gln908Glu)
c.*102C>G (n.*102C>G)
c.2872C>G (p.Gln958Glu)
c.2845C>G (p.Gln949Glu)
7g.150947458G>TCA369852909KCNH2n.3855C>A
c.3022C>A (p.Gln1008Lys)
c.2002C>A (p.Gln668Lys)
c.2722C>A (p.Gln908Lys)
c.*102C>A (n.*102C>A)
c.2872C>A (p.Gln958Lys)
c.2845C>A (p.Gln949Lys)
gnomAD v4
7g.150947459G>ACA036369KCNH2n.3854C>T
c.3021C>T (p.Arg1007=)
c.2001C>T (p.Arg667=)
c.2721C>T (p.Arg907=)
c.*101C>T (n.*101C>T)
c.2871C>T (p.Arg957=)
c.2844C>T (p.Arg948=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947459G>CCA458644926KCNH2n.3854C>G
c.3021C>G (p.Arg1007=)
c.2001C>G (p.Arg667=)
c.2721C>G (p.Arg907=)
c.*101C>G (n.*101C>G)
c.2871C>G (p.Arg957=)
c.2844C>G (p.Arg948=)
gnomAD v4
7g.150947459G=CA1752429342KCNH2n.3854C=
c.3021C= (p.Arg1007=)
c.2001C= (p.Arg667=)
c.2721C= (p.Arg907=)
c.*101C= (n.*101C=)
c.2871C= (p.Arg957=)
c.2844C= (p.Arg948=)
7g.150947459G>TCA458644927KCNH2n.3854C>A
c.3021C>A (p.Arg1007=)
c.2001C>A (p.Arg667=)
c.2721C>A (p.Arg907=)
c.*101C>A (n.*101C>A)
c.2871C>A (p.Arg957=)
c.2844C>A (p.Arg948=)
7g.150947460C>ACA036361KCNH2n.3853G>T
c.3020G>T (p.Arg1007Leu)
c.2000G>T (p.Arg667Leu)
c.2720G>T (p.Arg907Leu)
c.*100G>T (n.*100G>T)
c.2870G>T (p.Arg957Leu)
c.2843G>T (p.Arg948Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947460C=CA1752429349KCNH2n.3853G=
c.3020G= (p.Arg1007=)
c.2000G= (p.Arg667=)
c.2720G= (p.Arg907=)
c.*100G= (n.*100G=)
c.2870G= (p.Arg957=)
c.2843G= (p.Arg948=)
7g.150947460C>GCA369852910KCNH2n.3853G>C
c.3020G>C (p.Arg1007Pro)
c.2000G>C (p.Arg667Pro)
c.2720G>C (p.Arg907Pro)
c.*100G>C (n.*100G>C)
c.2870G>C (p.Arg957Pro)
c.2843G>C (p.Arg948Pro)
gnomAD v4
7g.150947460C>TCA007832KCNH2n.3853G>A
c.3020G>A (p.Arg1007His)
c.2000G>A (p.Arg667His)
c.2720G>A (p.Arg907His)
c.*100G>A (n.*100G>A)
c.2870G>A (p.Arg957His)
c.2843G>A (p.Arg948His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947461G>ACA369852911KCNH2n.3852C>T
c.3019C>T (p.Arg1007Cys)
c.1999C>T (p.Arg667Cys)
c.2719C>T (p.Arg907Cys)
c.*99C>T (n.*99C>T)
c.2869C>T (p.Arg957Cys)
c.2842C>T (p.Arg948Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947461G>CCA369852912KCNH2n.3852C>G
c.3019C>G (p.Arg1007Gly)
c.1999C>G (p.Arg667Gly)
c.2719C>G (p.Arg907Gly)
c.*99C>G (n.*99C>G)
c.2869C>G (p.Arg957Gly)
c.2842C>G (p.Arg948Gly)
7g.150947461G=CA1752429353KCNH2n.3852C=
c.3019C= (p.Arg1007=)
c.1999C= (p.Arg667=)
c.2719C= (p.Arg907=)
c.*99C= (n.*99C=)
c.2869C= (p.Arg957=)
c.2842C= (p.Arg948=)
7g.150947461G>TCA369852913KCNH2n.3852C>A
c.3019C>A (p.Arg1007Ser)
c.1999C>A (p.Arg667Ser)
c.2719C>A (p.Arg907Ser)
c.*99C>A (n.*99C>A)
c.2869C>A (p.Arg957Ser)
c.2842C>A (p.Arg948Ser)
gnomAD v4
7g.150947462dupCA2695208797KCNH2n.3852dup
c.3019dup (p.Arg1007ProfsTer?)
c.1999dup (p.Arg667ProfsTer?)
c.2719dup (p.Arg907ProfsTer?)
c.*99dup (n.*99dup)
c.2869dup (p.Arg957ProfsTer?)
c.2842dup (p.Arg948ProfsTer?)
7g.150947462delCA2579062786KCNH2n.3852del
c.3019del (p.Arg1007AlafsTer?)
c.1999del (p.Arg667AlafsTer?)
c.2719del (p.Arg907AlafsTer?)
c.*99del (n.*99del)
c.2869del (p.Arg957AlafsTer?)
c.2842del (p.Arg948AlafsTer?)
gnomAD v4
7g.150947462G>ACA458644929KCNH2n.3851C>T
c.3018C>T (p.Gly1006=)
c.1998C>T (p.Gly666=)
c.2718C>T (p.Gly906=)
c.*98C>T (n.*98C>T)
c.2868C>T (p.Gly956=)
c.2841C>T (p.Gly947=)
ClinVar gnomAD v4
7g.150947462G>CCA458644930KCNH2n.3851C>G
c.3018C>G (p.Gly1006=)
c.1998C>G (p.Gly666=)
c.2718C>G (p.Gly906=)
c.*98C>G (n.*98C>G)
c.2868C>G (p.Gly956=)
c.2841C>G (p.Gly947=)
7g.150947462G>TCA458644931KCNH2n.3851C>A
c.3018C>A (p.Gly1006=)
c.1998C>A (p.Gly666=)
c.2718C>A (p.Gly906=)
c.*98C>A (n.*98C>A)
c.2868C>A (p.Gly956=)
c.2841C>A (p.Gly947=)
gnomAD v4
7g.150947462_150947463delinsGCCA1752429355KCNH2n.3850_3851delinsGC
c.3017_3018delinsGC (p.Gly1006=)
c.1997_1998delinsGC (p.Gly666=)
c.2717_2718delinsGC (p.Gly906=)
c.*97_*98delinsGC (n.*97_*98delinsGC)
c.2867_2868delinsGC (p.Gly956=)
c.2840_2841delinsGC (p.Gly947=)
7g.150947463C>ACA369852915KCNH2n.3850G>T
c.3017G>T (p.Gly1006Val)
c.1997G>T (p.Gly666Val)
c.2717G>T (p.Gly906Val)
c.*97G>T (n.*97G>T)
c.2867G>T (p.Gly956Val)
c.2840G>T (p.Gly947Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947463C=CA1752429359KCNH2n.3850G=
c.3017G= (p.Gly1006=)
c.1997G= (p.Gly666=)
c.2717G= (p.Gly906=)
c.*97G= (n.*97G=)
c.2867G= (p.Gly956=)
c.2840G= (p.Gly947=)
7g.150947463C>GCA036327KCNH2n.3850G>C
c.3017G>C (p.Gly1006Ala)
c.1997G>C (p.Gly666Ala)
c.2717G>C (p.Gly906Ala)
c.*97G>C (n.*97G>C)
c.2867G>C (p.Gly956Ala)
c.2840G>C (p.Gly947Ala)
dbSNP ExAC
7g.150947463C>TCA369852914KCNH2n.3850G>A
c.3017G>A (p.Gly1006Asp)
c.1997G>A (p.Gly666Asp)
c.2717G>A (p.Gly906Asp)
c.*97G>A (n.*97G>A)
c.2867G>A (p.Gly956Asp)
c.2840G>A (p.Gly947Asp)
gnomAD v4
7g.150947466delCA007808KCNH2n.3850del
c.3017del (p.Gly1006AlafsTer?)
c.1997del (p.Gly666AlafsTer?)
c.2717del (p.Gly906AlafsTer?)
c.*97del (n.*97del)
c.2867del (p.Gly956AlafsTer?)
c.2840del (p.Gly947AlafsTer?)
ClinVar dbSNP gnomAD v4
7g.150947464C>ACA369852916KCNH2n.3849G>T
c.3016G>T (p.Gly1006Cys)
c.1996G>T (p.Gly666Cys)
c.2716G>T (p.Gly906Cys)
c.*96G>T (n.*96G>T)
c.2866G>T (p.Gly956Cys)
c.2839G>T (p.Gly947Cys)
gnomAD v4
7g.150947464C>GCA369852917KCNH2n.3849G>C
c.3016G>C (p.Gly1006Arg)
c.1996G>C (p.Gly666Arg)
c.2716G>C (p.Gly906Arg)
c.*96G>C (n.*96G>C)
c.2866G>C (p.Gly956Arg)
c.2839G>C (p.Gly947Arg)
7g.150947464C>TCA369852918KCNH2n.3849G>A
c.3016G>A (p.Gly1006Ser)
c.1996G>A (p.Gly666Ser)
c.2716G>A (p.Gly906Ser)
c.*96G>A (n.*96G>A)
c.2866G>A (p.Gly956Ser)
c.2839G>A (p.Gly947Ser)
ClinVar gnomAD v4
7g.150947465C>ACA458644935KCNH2n.3848G>T
c.3015G>T (p.Arg1005=)
c.1995G>T (p.Arg665=)
c.2715G>T (p.Arg905=)
c.*95G>T (n.*95G>T)
c.2865G>T (p.Arg955=)
c.2838G>T (p.Arg946=)
7g.150947465C=CA1752429366KCNH2n.3848G=
c.3015G= (p.Arg1005=)
c.1995G= (p.Arg665=)
c.2715G= (p.Arg905=)
c.*95G= (n.*95G=)
c.2865G= (p.Arg955=)
c.2838G= (p.Arg946=)
7g.150947465C>GCA458644932KCNH2n.3848G>C
c.3015G>C (p.Arg1005=)
c.1995G>C (p.Arg665=)
c.2715G>C (p.Arg905=)
c.*95G>C (n.*95G>C)
c.2865G>C (p.Arg955=)
c.2838G>C (p.Arg946=)
7g.150947465C>TCA458644933KCNH2n.3848G>A
c.3015G>A (p.Arg1005=)
c.1995G>A (p.Arg665=)
c.2715G>A (p.Arg905=)
c.*95G>A (n.*95G>A)
c.2865G>A (p.Arg955=)
c.2838G>A (p.Arg946=)
dbSNP gnomAD v2 gnomAD v4
7g.150947466C>ACA369852919KCNH2n.3847G>T
c.3014G>T (p.Arg1005Leu)
c.1994G>T (p.Arg665Leu)
c.2714G>T (p.Arg905Leu)
c.*94G>T (n.*94G>T)
c.2864G>T (p.Arg955Leu)
c.2837G>T (p.Arg946Leu)
gnomAD v4
7g.150947466C=CA1752429371KCNH2n.3847G=
c.3014G= (p.Arg1005=)
c.1994G= (p.Arg665=)
c.2714G= (p.Arg905=)
c.*94G= (n.*94G=)
c.2864G= (p.Arg955=)
c.2837G= (p.Arg946=)
7g.150947466C>GCA369852920KCNH2n.3847G>C
c.3014G>C (p.Arg1005Pro)
c.1994G>C (p.Arg665Pro)
c.2714G>C (p.Arg905Pro)
c.*94G>C (n.*94G>C)
c.2864G>C (p.Arg955Pro)
c.2837G>C (p.Arg946Pro)
7g.150947466C>TCA007800KCNH2n.3847G>A
c.3014G>A (p.Arg1005Gln)
c.1994G>A (p.Arg665Gln)
c.2714G>A (p.Arg905Gln)
c.*94G>A (n.*94G>A)
c.2864G>A (p.Arg955Gln)
c.2837G>A (p.Arg946Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947467G>ACA169072126KCNH2n.3846C>T
c.3013C>T (p.Arg1005Trp)
c.1993C>T (p.Arg665Trp)
c.2713C>T (p.Arg905Trp)
c.*93C>T (n.*93C>T)
c.2863C>T (p.Arg955Trp)
c.2836C>T (p.Arg946Trp)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947467G>CCA369852921KCNH2n.3846C>G
c.3013C>G (p.Arg1005Gly)
c.1993C>G (p.Arg665Gly)
c.2713C>G (p.Arg905Gly)
c.*93C>G (n.*93C>G)
c.2863C>G (p.Arg955Gly)
c.2836C>G (p.Arg946Gly)
gnomAD v4
7g.150947467G=CA1752429375KCNH2n.3846C=
c.3013C= (p.Arg1005=)
c.1993C= (p.Arg665=)
c.2713C= (p.Arg905=)
c.*93C= (n.*93C=)
c.2863C= (p.Arg955=)
c.2836C= (p.Arg946=)
7g.150947467G>TCA458644936KCNH2n.3846C>A
c.3013C>A (p.Arg1005=)
c.1993C>A (p.Arg665=)
c.2713C>A (p.Arg905=)
c.*93C>A (n.*93C>A)
c.2863C>A (p.Arg955=)
c.2836C>A (p.Arg946=)
gnomAD v4
7g.150947468A>CCA369852922KCNH2n.3845T>G
c.3012T>G (p.Ser1004Arg)
c.1992T>G (p.Ser664Arg)
c.2712T>G (p.Ser904Arg)
c.*92T>G (n.*92T>G)
c.2862T>G (p.Ser954Arg)
c.2835T>G (p.Ser945Arg)
7g.150947468A>GCA458644937KCNH2n.3845T>C
c.3012T>C (p.Ser1004=)
c.1992T>C (p.Ser664=)
c.2712T>C (p.Ser904=)
c.*92T>C (n.*92T>C)
c.2862T>C (p.Ser954=)
c.2835T>C (p.Ser945=)
7g.150947468A>TCA369852923KCNH2n.3845T>A
c.3012T>A (p.Ser1004Arg)
c.1992T>A (p.Ser664Arg)
c.2712T>A (p.Ser904Arg)
c.*92T>A (n.*92T>A)
c.2862T>A (p.Ser954Arg)
c.2835T>A (p.Ser945Arg)
7g.150947469C>ACA036300KCNH2n.3844G>T
c.3011G>T (p.Ser1004Ile)
c.1991G>T (p.Ser664Ile)
c.2711G>T (p.Ser904Ile)
c.*91G>T (n.*91G>T)
c.2861G>T (p.Ser954Ile)
c.2834G>T (p.Ser945Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947469C=CA1752429380KCNH2n.3844G=
c.3011G= (p.Ser1004=)
c.1991G= (p.Ser664=)
c.2711G= (p.Ser904=)
c.*91G= (n.*91G=)
c.2861G= (p.Ser954=)
c.2834G= (p.Ser945=)
7g.150947469C>GCA036284KCNH2n.3844G>C
c.3011G>C (p.Ser1004Thr)
c.1991G>C (p.Ser664Thr)
c.2711G>C (p.Ser904Thr)
c.*91G>C (n.*91G>C)
c.2861G>C (p.Ser954Thr)
c.2834G>C (p.Ser945Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947469C>TCA369852924KCNH2n.3844G>A
c.3011G>A (p.Ser1004Asn)
c.1991G>A (p.Ser664Asn)
c.2711G>A (p.Ser904Asn)
c.*91G>A (n.*91G>A)
c.2861G>A (p.Ser954Asn)
c.2834G>A (p.Ser945Asn)
7g.150947470T>ACA369852925KCNH2n.3843A>T
c.3010A>T (p.Ser1004Cys)
c.1990A>T (p.Ser664Cys)
c.2710A>T (p.Ser904Cys)
c.*90A>T (n.*90A>T)
c.2860A>T (p.Ser954Cys)
c.2833A>T (p.Ser945Cys)
7g.150947470T>CCA369852927KCNH2n.3843A>G
c.3010A>G (p.Ser1004Gly)
c.1990A>G (p.Ser664Gly)
c.2710A>G (p.Ser904Gly)
c.*90A>G (n.*90A>G)
c.2860A>G (p.Ser954Gly)
c.2833A>G (p.Ser945Gly)
7g.150947470T>GCA369852926KCNH2n.3843A>C
c.3010A>C (p.Ser1004Arg)
c.1990A>C (p.Ser664Arg)
c.2710A>C (p.Ser904Arg)
c.*90A>C (n.*90A>C)
c.2860A>C (p.Ser954Arg)
c.2833A>C (p.Ser945Arg)
7g.150947471G>ACA458644939KCNH2n.3842C>T
c.3009C>T (p.Asp1003=)
c.1989C>T (p.Asp663=)
c.2709C>T (p.Asp903=)
c.*89C>T (n.*89C>T)
c.2859C>T (p.Asp953=)
c.2832C>T (p.Asp944=)
ClinVar dbSNP gnomAD v4
7g.150947471G>CCA369852928KCNH2n.3842C>G
c.3009C>G (p.Asp1003Glu)
c.1989C>G (p.Asp663Glu)
c.2709C>G (p.Asp903Glu)
c.*89C>G (n.*89C>G)
c.2859C>G (p.Asp953Glu)
c.2832C>G (p.Asp944Glu)
7g.150947471G=CA1752429383KCNH2n.3842C=
c.3009C= (p.Asp1003=)
c.1989C= (p.Asp663=)
c.2709C= (p.Asp903=)
c.*89C= (n.*89C=)
c.2859C= (p.Asp953=)
c.2832C= (p.Asp944=)
7g.150947471G>TCA369852929KCNH2n.3842C>A
c.3009C>A (p.Asp1003Glu)
c.1989C>A (p.Asp663Glu)
c.2709C>A (p.Asp903Glu)
c.*89C>A (n.*89C>A)
c.2859C>A (p.Asp953Glu)
c.2832C>A (p.Asp944Glu)
gnomAD v4
7g.150947472T>ACA369852930KCNH2n.3841A>T
c.3008A>T (p.Asp1003Val)
c.1988A>T (p.Asp663Val)
c.2708A>T (p.Asp903Val)
c.*88A>T (n.*88A>T)
c.2858A>T (p.Asp953Val)
c.2831A>T (p.Asp944Val)
gnomAD v4
7g.150947472T>CCA369852931KCNH2n.3841A>G
c.3008A>G (p.Asp1003Gly)
c.1988A>G (p.Asp663Gly)
c.2708A>G (p.Asp903Gly)
c.*88A>G (n.*88A>G)
c.2858A>G (p.Asp953Gly)
c.2831A>G (p.Asp944Gly)
gnomAD v4
7g.150947472T>GCA369852932KCNH2n.3841A>C
c.3008A>C (p.Asp1003Ala)
c.1988A>C (p.Asp663Ala)
c.2708A>C (p.Asp903Ala)
c.*88A>C (n.*88A>C)
c.2858A>C (p.Asp953Ala)
c.2831A>C (p.Asp944Ala)
7g.150947472_150947473delinsTCCA1752429388KCNH2n.3840_3841delinsGA
c.3007_3008delinsGA (p.Asp1003=)
c.1987_1988delinsGA (p.Asp663=)
c.2707_2708delinsGA (p.Asp903=)
c.*87_*88delinsGA (n.*87_*88delinsGA)
c.2857_2858delinsGA (p.Asp953=)
c.2830_2831delinsGA (p.Asp944=)
7g.150947473C>ACA007791KCNH2n.3840G>T
c.3007G>T (p.Asp1003Tyr)
c.1987G>T (p.Asp663Tyr)
c.2707G>T (p.Asp903Tyr)
c.*87G>T (n.*87G>T)
c.2857G>T (p.Asp953Tyr)
c.2830G>T (p.Asp944Tyr)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947473C=CA1752429398KCNH2n.3840G=
c.3007G= (p.Asp1003=)
c.1987G= (p.Asp663=)
c.2707G= (p.Asp903=)
c.*87G= (n.*87G=)
c.2857G= (p.Asp953=)
c.2830G= (p.Asp944=)
7g.150947473C>GCA369852933KCNH2n.3840G>C
c.3007G>C (p.Asp1003His)
c.1987G>C (p.Asp663His)
c.2707G>C (p.Asp903His)
c.*87G>C (n.*87G>C)
c.2857G>C (p.Asp953His)
c.2830G>C (p.Asp944His)
dbSNP gnomAD v2 gnomAD v4
7g.150947473C>TCA16042691KCNH2n.3840G>A
c.3007G>A (p.Asp1003Asn)
c.1987G>A (p.Asp663Asn)
c.2707G>A (p.Asp903Asn)
c.*87G>A (n.*87G>A)
c.2857G>A (p.Asp953Asn)
c.2830G>A (p.Asp944Asn)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947478dupCA916080376KCNH2n.3840dup
c.3007dup (p.Asp1003GlyfsTer?)
c.1987dup (p.Asp663GlyfsTer?)
c.2707dup (p.Asp903GlyfsTer?)
c.*87dup (n.*87dup)
c.2857dup (p.Asp953GlyfsTer?)
c.2830dup (p.Asp944GlyfsTer?)
ClinVar dbSNP gnomAD v4
7g.150947478delCA645565631KCNH2n.3840del
c.3007del (p.Asp1003ThrfsTer?)
c.1987del (p.Asp663ThrfsTer?)
c.2707del (p.Asp903ThrfsTer?)
c.*87del (n.*87del)
c.2857del (p.Asp953ThrfsTer?)
c.2830del (p.Asp944ThrfsTer?)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
7g.150947474C>ACA458644940KCNH2n.3839G>T
c.3006G>T (p.Gly1002=)
c.1986G>T (p.Gly662=)
c.2706G>T (p.Gly902=)
c.*86G>T (n.*86G>T)
c.2856G>T (p.Gly952=)
c.2829G>T (p.Gly943=)
ClinVar dbSNP gnomAD v4
7g.150947474C=CA1752429405KCNH2n.3839G=
c.3006G= (p.Gly1002=)
c.1986G= (p.Gly662=)
c.2706G= (p.Gly902=)
c.*86G= (n.*86G=)
c.2856G= (p.Gly952=)
c.2829G= (p.Gly943=)
7g.150947474C>GCA458644941KCNH2n.3839G>C
c.3006G>C (p.Gly1002=)
c.1986G>C (p.Gly662=)
c.2706G>C (p.Gly902=)
c.*86G>C (n.*86G>C)
c.2856G>C (p.Gly952=)
c.2829G>C (p.Gly943=)
7g.150947474C>TCA458644942KCNH2n.3839G>A
c.3006G>A (p.Gly1002=)
c.1986G>A (p.Gly662=)
c.2706G>A (p.Gly902=)
c.*86G>A (n.*86G>A)
c.2856G>A (p.Gly952=)
c.2829G>A (p.Gly943=)
dbSNP gnomAD v2 gnomAD v4
7g.150947475C>ACA369852934KCNH2n.3838G>T
c.3005G>T (p.Gly1002Val)
c.1985G>T (p.Gly662Val)
c.2705G>T (p.Gly902Val)
c.*85G>T (n.*85G>T)
c.2855G>T (p.Gly952Val)
c.2828G>T (p.Gly943Val)
gnomAD v4
7g.150947475C=CA1752429410KCNH2n.3838G=
c.3005G= (p.Gly1002=)
c.1985G= (p.Gly662=)
c.2705G= (p.Gly902=)
c.*85G= (n.*85G=)
c.2855G= (p.Gly952=)
c.2828G= (p.Gly943=)
7g.150947475C>GCA369852935KCNH2n.3838G>C
c.3005G>C (p.Gly1002Ala)
c.1985G>C (p.Gly662Ala)
c.2705G>C (p.Gly902Ala)
c.*85G>C (n.*85G>C)
c.2855G>C (p.Gly952Ala)
c.2828G>C (p.Gly943Ala)
7g.150947475C>TCA369852936KCNH2n.3838G>A
c.3005G>A (p.Gly1002Glu)
c.1985G>A (p.Gly662Glu)
c.2705G>A (p.Gly902Glu)
c.*85G>A (n.*85G>A)
c.2855G>A (p.Gly952Glu)
c.2828G>A (p.Gly943Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947476C>ACA369852939KCNH2n.3837G>T
c.3004G>T (p.Gly1002Trp)
c.1984G>T (p.Gly662Trp)
c.2704G>T (p.Gly902Trp)
c.*84G>T (n.*84G>T)
c.2854G>T (p.Gly952Trp)
c.2827G>T (p.Gly943Trp)
gnomAD v4
7g.150947476C=CA1752429412KCNH2n.3837G=
c.3004G= (p.Gly1002=)
c.1984G= (p.Gly662=)
c.2704G= (p.Gly902=)
c.*84G= (n.*84G=)
c.2854G= (p.Gly952=)
c.2827G= (p.Gly943=)
7g.150947476C>GCA369852938KCNH2n.3837G>C
c.3004G>C (p.Gly1002Arg)
c.1984G>C (p.Gly662Arg)
c.2704G>C (p.Gly902Arg)
c.*84G>C (n.*84G>C)
c.2854G>C (p.Gly952Arg)
c.2827G>C (p.Gly943Arg)
gnomAD v4
7g.150947476C>TCA369852937KCNH2n.3837G>A
c.3004G>A (p.Gly1002Arg)
c.1984G>A (p.Gly662Arg)
c.2704G>A (p.Gly902Arg)
c.*84G>A (n.*84G>A)
c.2854G>A (p.Gly952Arg)
c.2827G>A (p.Gly943Arg)
dbSNP gnomAD v4
7g.150947477C>ACA369852940KCNH2n.3836G>T
c.3003G>T (p.Trp1001Cys)
c.1983G>T (p.Trp661Cys)
c.2703G>T (p.Trp901Cys)
c.*83G>T (n.*83G>T)
c.2853G>T (p.Trp951Cys)
c.2826G>T (p.Trp942Cys)
ClinVar gnomAD v4
7g.150947477C=CA1752429416KCNH2n.3836G=
c.3003G= (p.Trp1001=)
c.1983G= (p.Trp661=)
c.2703G= (p.Trp901=)
c.*83G= (n.*83G=)
c.2853G= (p.Trp951=)
c.2826G= (p.Trp942=)
7g.150947477C>GCA369852941KCNH2n.3836G>C
c.3003G>C (p.Trp1001Cys)
c.1983G>C (p.Trp661Cys)
c.2703G>C (p.Trp901Cys)
c.*83G>C (n.*83G>C)
c.2853G>C (p.Trp951Cys)
c.2826G>C (p.Trp942Cys)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947477C>TCA007783KCNH2n.3836G>A
c.3003G>A (p.Trp1001Ter)
c.1983G>A (p.Trp661Ter)
c.2703G>A (p.Trp901Ter)
c.*83G>A (n.*83G>A)
c.2853G>A (p.Trp951Ter)
c.2826G>A (p.Trp942Ter)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947478C>ACA369852942KCNH2n.3835G>T
c.3002G>T (p.Trp1001Leu)
c.1982G>T (p.Trp661Leu)
c.2702G>T (p.Trp901Leu)
c.*82G>T (n.*82G>T)
c.2852G>T (p.Trp951Leu)
c.2825G>T (p.Trp942Leu)
dbSNP gnomAD v4
7g.150947478C=CA1752429427KCNH2n.3835G=
c.3002G= (p.Trp1001=)
c.1982G= (p.Trp661=)
c.2702G= (p.Trp901=)
c.*82G= (n.*82G=)
c.2852G= (p.Trp951=)
c.2825G= (p.Trp942=)
7g.150947478C>GCA369852943KCNH2n.3835G>C
c.3002G>C (p.Trp1001Ser)
c.1982G>C (p.Trp661Ser)
c.2702G>C (p.Trp901Ser)
c.*82G>C (n.*82G>C)
c.2852G>C (p.Trp951Ser)
c.2825G>C (p.Trp942Ser)
dbSNP gnomAD v3 gnomAD v4
7g.150947478C>TCA007773KCNH2n.3835G>A
c.3002G>A (p.Trp1001Ter)
c.1982G>A (p.Trp661Ter)
c.2702G>A (p.Trp901Ter)
c.*82G>A (n.*82G>A)
c.2852G>A (p.Trp951Ter)
c.2825G>A (p.Trp942Ter)
ClinVar dbSNP gnomAD v4
7g.150947479A>CCA369852944KCNH2n.3834T>G
c.3001T>G (p.Trp1001Gly)
c.1981T>G (p.Trp661Gly)
c.2701T>G (p.Trp901Gly)
c.*81T>G (n.*81T>G)
c.2851T>G (p.Trp951Gly)
c.2824T>G (p.Trp942Gly)
gnomAD v4
7g.150947479A>GCA369852945KCNH2n.3834T>C
c.3001T>C (p.Trp1001Arg)
c.1981T>C (p.Trp661Arg)
c.2701T>C (p.Trp901Arg)
c.*81T>C (n.*81T>C)
c.2851T>C (p.Trp951Arg)
c.2824T>C (p.Trp942Arg)
gnomAD v4
7g.150947479A>TCA369852946KCNH2n.3834T>A
c.3001T>A (p.Trp1001Arg)
c.1981T>A (p.Trp661Arg)
c.2701T>A (p.Trp901Arg)
c.*81T>A (n.*81T>A)
c.2851T>A (p.Trp951Arg)
c.2824T>A (p.Trp942Arg)
gnomAD v4
7g.150947479dupCA2695208798KCNH2n.3834dup
c.3001dup (p.Trp1001LeufsTer?)
c.1981dup (p.Trp661LeufsTer?)
c.2701dup (p.Trp901LeufsTer?)
c.*81dup (n.*81dup)
c.2851dup (p.Trp951LeufsTer?)
c.2824dup (p.Trp942LeufsTer?)
7g.150947480G>ACA458644946KCNH2n.3833C>T
c.3000C>T (p.Phe1000=)
c.1980C>T (p.Phe660=)
c.2700C>T (p.Phe900=)
c.*80C>T (n.*80C>T)
c.2850C>T (p.Phe950=)
c.2823C>T (p.Phe941=)
7g.150947480G>CCA369852947KCNH2n.3833C>G
c.3000C>G (p.Phe1000Leu)
c.1980C>G (p.Phe660Leu)
c.2700C>G (p.Phe900Leu)
c.*80C>G (n.*80C>G)
c.2850C>G (p.Phe950Leu)
c.2823C>G (p.Phe941Leu)
7g.150947480G>TCA369852948KCNH2n.3833C>A
c.3000C>A (p.Phe1000Leu)
c.1980C>A (p.Phe660Leu)
c.2700C>A (p.Phe900Leu)
c.*80C>A (n.*80C>A)
c.2850C>A (p.Phe950Leu)
c.2823C>A (p.Phe941Leu)
gnomAD v4
7g.150947481A>CCA369852949KCNH2n.3832T>G
c.2999T>G (p.Phe1000Cys)
c.1979T>G (p.Phe660Cys)
c.2699T>G (p.Phe900Cys)
c.*79T>G (n.*79T>G)
c.2849T>G (p.Phe950Cys)
c.2822T>G (p.Phe941Cys)
7g.150947481A>GCA369852950KCNH2n.3832T>C
c.2999T>C (p.Phe1000Ser)
c.1979T>C (p.Phe660Ser)
c.2699T>C (p.Phe900Ser)
c.*79T>C (n.*79T>C)
c.2849T>C (p.Phe950Ser)
c.2822T>C (p.Phe941Ser)
7g.150947481A>TCA369852951KCNH2n.3832T>A
c.2999T>A (p.Phe1000Tyr)
c.1979T>A (p.Phe660Tyr)
c.2699T>A (p.Phe900Tyr)
c.*79T>A (n.*79T>A)
c.2849T>A (p.Phe950Tyr)
c.2822T>A (p.Phe941Tyr)
7g.150947482A>CCA369852954KCNH2n.3831T>G
c.2998T>G (p.Phe1000Val)
c.1978T>G (p.Phe660Val)
c.2698T>G (p.Phe900Val)
c.*78T>G (n.*78T>G)
c.2848T>G (p.Phe950Val)
c.2821T>G (p.Phe941Val)
7g.150947482A>GCA369852953KCNH2n.3831T>C
c.2998T>C (p.Phe1000Leu)
c.1978T>C (p.Phe660Leu)
c.2698T>C (p.Phe900Leu)
c.*78T>C (n.*78T>C)
c.2848T>C (p.Phe950Leu)
c.2821T>C (p.Phe941Leu)
7g.150947482A>TCA369852952KCNH2n.3831T>A
c.2998T>A (p.Phe1000Ile)
c.1978T>A (p.Phe660Ile)
c.2698T>A (p.Phe900Ile)
c.*78T>A (n.*78T>A)
c.2848T>A (p.Phe950Ile)
c.2821T>A (p.Phe941Ile)
7g.150947483G>ACA458644949KCNH2n.3830C>T
c.2997C>T (p.Ser999=)
c.1977C>T (p.Ser659=)
c.2697C>T (p.Ser899=)
c.*77C>T (n.*77C>T)
c.2847C>T (p.Ser949=)
c.2820C>T (p.Ser940=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947483G>CCA369852955KCNH2n.3830C>G
c.2997C>G (p.Ser999Arg)
c.1977C>G (p.Ser659Arg)
c.2697C>G (p.Ser899Arg)
c.*77C>G (n.*77C>G)
c.2847C>G (p.Ser949Arg)
c.2820C>G (p.Ser940Arg)
7g.150947483G=CA1752429431KCNH2n.3830C=
c.2997C= (p.Ser999=)
c.1977C= (p.Ser659=)
c.2697C= (p.Ser899=)
c.*77C= (n.*77C=)
c.2847C= (p.Ser949=)
c.2820C= (p.Ser940=)
7g.150947483G>TCA369852956KCNH2n.3830C>A
c.2997C>A (p.Ser999Arg)
c.1977C>A (p.Ser659Arg)
c.2697C>A (p.Ser899Arg)
c.*77C>A (n.*77C>A)
c.2847C>A (p.Ser949Arg)
c.2820C>A (p.Ser940Arg)
gnomAD v4
7g.150947484C>ACA369852957KCNH2n.3829G>T
c.2996G>T (p.Ser999Ile)
c.1976G>T (p.Ser659Ile)
c.2696G>T (p.Ser899Ile)
c.*76G>T (n.*76G>T)
c.2846G>T (p.Ser949Ile)
c.2819G>T (p.Ser940Ile)
gnomAD v4
7g.150947484C=CA1752429435KCNH2n.3829G=
c.2996G= (p.Ser999=)
c.1976G= (p.Ser659=)
c.2696G= (p.Ser899=)
c.*76G= (n.*76G=)
c.2846G= (p.Ser949=)
c.2819G= (p.Ser940=)
7g.150947484C>GCA169072139KCNH2n.3829G>C
c.2996G>C (p.Ser999Thr)
c.1976G>C (p.Ser659Thr)
c.2696G>C (p.Ser899Thr)
c.*76G>C (n.*76G>C)
c.2846G>C (p.Ser949Thr)
c.2819G>C (p.Ser940Thr)
ClinVar dbSNP
7g.150947484C>TCA369852958KCNH2n.3829G>A
c.2996G>A (p.Ser999Asn)
c.1976G>A (p.Ser659Asn)
c.2696G>A (p.Ser899Asn)
c.*76G>A (n.*76G>A)
c.2846G>A (p.Ser949Asn)
c.2819G>A (p.Ser940Asn)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.150947485T>ACA369852959KCNH2n.3828A>T
c.2995A>T (p.Ser999Cys)
c.1975A>T (p.Ser659Cys)
c.2695A>T (p.Ser899Cys)
c.*75A>T (n.*75A>T)
c.2845A>T (p.Ser949Cys)
c.2818A>T (p.Ser940Cys)
gnomAD v4
7g.150947485T>CCA369852960KCNH2n.3828A>G
c.2995A>G (p.Ser999Gly)
c.1975A>G (p.Ser659Gly)
c.2695A>G (p.Ser899Gly)
c.*75A>G (n.*75A>G)
c.2845A>G (p.Ser949Gly)
c.2818A>G (p.Ser940Gly)
gnomAD v4
7g.150947485T>GCA369852961KCNH2n.3828A>C
c.2995A>C (p.Ser999Arg)
c.1975A>C (p.Ser659Arg)
c.2695A>C (p.Ser899Arg)
c.*75A>C (n.*75A>C)
c.2845A>C (p.Ser949Arg)
c.2818A>C (p.Ser940Arg)
7g.150947485dupCA579075366KCNH2n.3828dup
c.2995dup (p.Ser999LysfsTer?)
c.1975dup (p.Ser659LysfsTer?)
c.2695dup (p.Ser899LysfsTer?)
c.*75dup (n.*75dup)
c.2845dup (p.Ser949LysfsTer?)
c.2818dup (p.Ser940LysfsTer?)
dbSNP gnomAD v2 gnomAD v4
7g.150947486G>ACA007756KCNH2n.3827C>T
c.2994C>T (p.Phe998=)
c.1974C>T (p.Phe658=)
c.2694C>T (p.Phe898=)
c.*74C>T (n.*74C>T)
c.2844C>T (p.Phe948=)
c.2817C>T (p.Phe939=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947486G>CCA369852962KCNH2n.3827C>G
c.2994C>G (p.Phe998Leu)
c.1974C>G (p.Phe658Leu)
c.2694C>G (p.Phe898Leu)
c.*74C>G (n.*74C>G)
c.2844C>G (p.Phe948Leu)
c.2817C>G (p.Phe939Leu)
7g.150947486G=CA1752429444KCNH2n.3827C=
c.2994C= (p.Phe998=)
c.1974C= (p.Phe658=)
c.2694C= (p.Phe898=)
c.*74C= (n.*74C=)
c.2844C= (p.Phe948=)
c.2817C= (p.Phe939=)
7g.150947486G>TCA369852963KCNH2n.3827C>A
c.2994C>A (p.Phe998Leu)
c.1974C>A (p.Phe658Leu)
c.2694C>A (p.Phe898Leu)
c.*74C>A (n.*74C>A)
c.2844C>A (p.Phe948Leu)
c.2817C>A (p.Phe939Leu)
gnomAD v4
7g.150947487A>CCA369852966KCNH2n.3826T>G
c.2993T>G (p.Phe998Cys)
c.1973T>G (p.Phe658Cys)
c.2693T>G (p.Phe898Cys)
c.*73T>G (n.*73T>G)
c.2843T>G (p.Phe948Cys)
c.2816T>G (p.Phe939Cys)
7g.150947487A>GCA369852965KCNH2n.3826T>C
c.2993T>C (p.Phe998Ser)
c.1973T>C (p.Phe658Ser)
c.2693T>C (p.Phe898Ser)
c.*73T>C (n.*73T>C)
c.2843T>C (p.Phe948Ser)
c.2816T>C (p.Phe939Ser)
7g.150947487A>TCA369852964KCNH2n.3826T>A
c.2993T>A (p.Phe998Tyr)
c.1973T>A (p.Phe658Tyr)
c.2693T>A (p.Phe898Tyr)
c.*73T>A (n.*73T>A)
c.2843T>A (p.Phe948Tyr)
c.2816T>A (p.Phe939Tyr)
7g.150947490delCA2685602035KCNH2n.3826del
c.2993del (p.Phe998SerfsTer?)
c.1973del (p.Phe658SerfsTer?)
c.2693del (p.Phe898SerfsTer?)
c.*73del (n.*73del)
c.2843del (p.Phe948SerfsTer?)
c.2816del (p.Phe939SerfsTer?)
gnomAD v4
7g.150947488A>CCA369852967KCNH2n.3825T>G
c.2992T>G (p.Phe998Val)
c.1972T>G (p.Phe658Val)
c.2692T>G (p.Phe898Val)
c.*72T>G (n.*72T>G)
c.2842T>G (p.Phe948Val)
c.2815T>G (p.Phe939Val)
ClinVar gnomAD v4
7g.150947488A>GCA369852968KCNH2n.3825T>C
c.2992T>C (p.Phe998Leu)
c.1972T>C (p.Phe658Leu)
c.2692T>C (p.Phe898Leu)
c.*72T>C (n.*72T>C)
c.2842T>C (p.Phe948Leu)
c.2815T>C (p.Phe939Leu)
7g.150947488A>TCA369852969KCNH2n.3825T>A
c.2992T>A (p.Phe998Ile)
c.1972T>A (p.Phe658Ile)
c.2692T>A (p.Phe898Ile)
c.*72T>A (n.*72T>A)
c.2842T>A (p.Phe948Ile)
c.2815T>A (p.Phe939Ile)
7g.150947489A>CCA369852970KCNH2n.3824T>G
c.2991T>G (p.Ile997Met)
c.1971T>G (p.Ile657Met)
c.2691T>G (p.Ile897Met)
c.*71T>G (n.*71T>G)
c.2841T>G (p.Ile947Met)
c.2814T>G (p.Ile938Met)
7g.150947489A>GCA458644951KCNH2n.3824T>C
c.2991T>C (p.Ile997=)
c.1971T>C (p.Ile657=)
c.2691T>C (p.Ile897=)
c.*71T>C (n.*71T>C)
c.2841T>C (p.Ile947=)
c.2814T>C (p.Ile938=)
gnomAD v4
7g.150947489A>TCA458644950KCNH2n.3824T>A
c.2991T>A (p.Ile997=)
c.1971T>A (p.Ile657=)
c.2691T>A (p.Ile897=)
c.*71T>A (n.*71T>A)
c.2841T>A (p.Ile947=)
c.2814T>A (p.Ile938=)
ClinVar
7g.150947490A>CCA369852971KCNH2n.3823T>G
c.2990T>G (p.Ile997Ser)
c.1970T>G (p.Ile657Ser)
c.2690T>G (p.Ile897Ser)
c.*70T>G (n.*70T>G)
c.2840T>G (p.Ile947Ser)
c.2813T>G (p.Ile938Ser)
7g.150947490A>GCA369852972KCNH2n.3823T>C
c.2990T>C (p.Ile997Thr)
c.1970T>C (p.Ile657Thr)
c.2690T>C (p.Ile897Thr)
c.*70T>C (n.*70T>C)
c.2840T>C (p.Ile947Thr)
c.2813T>C (p.Ile938Thr)
7g.150947490A>TCA369852973KCNH2n.3823T>A
c.2990T>A (p.Ile997Asn)
c.1970T>A (p.Ile657Asn)
c.2690T>A (p.Ile897Asn)
c.*70T>A (n.*70T>A)
c.2840T>A (p.Ile947Asn)
c.2813T>A (p.Ile938Asn)
7g.150947491T>ACA369852974KCNH2n.3822A>T
c.2989A>T (p.Ile997Phe)
c.1969A>T (p.Ile657Phe)
c.2689A>T (p.Ile897Phe)
c.*69A>T (n.*69A>T)
c.2839A>T (p.Ile947Phe)
c.2812A>T (p.Ile938Phe)
7g.150947491T>CCA369852975KCNH2n.3822A>G
c.2989A>G (p.Ile997Val)
c.1969A>G (p.Ile657Val)
c.2689A>G (p.Ile897Val)
c.*69A>G (n.*69A>G)
c.2839A>G (p.Ile947Val)
c.2812A>G (p.Ile938Val)
dbSNP gnomAD v2 gnomAD v4
7g.150947491T>GCA369852976KCNH2n.3822A>C
c.2989A>C (p.Ile997Leu)
c.1969A>C (p.Ile657Leu)
c.2689A>C (p.Ile897Leu)
c.*69A>C (n.*69A>C)
c.2839A>C (p.Ile947Leu)
c.2812A>C (p.Ile938Leu)
7g.150947491T=CA1752429452KCNH2n.3822A=
c.2989A= (p.Ile997=)
c.1969A= (p.Ile657=)
c.2689A= (p.Ile897=)
c.*69A= (n.*69A=)
c.2839A= (p.Ile947=)
c.2812A= (p.Ile938=)
7g.150947492G>ACA036219KCNH2n.3821C>T
c.2988C>T (p.Asn996=)
c.1968C>T (p.Asn656=)
c.2688C>T (p.Asn896=)
c.*68C>T (n.*68C>T)
c.2838C>T (p.Asn946=)
c.2811C>T (p.Asn937=)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947492G>CCA369852977KCNH2n.3821C>G
c.2988C>G (p.Asn996Lys)
c.1968C>G (p.Asn656Lys)
c.2688C>G (p.Asn896Lys)
c.*68C>G (n.*68C>G)
c.2838C>G (p.Asn946Lys)
c.2811C>G (p.Asn937Lys)
7g.150947492G=CA1752429457KCNH2n.3821C=
c.2988C= (p.Asn996=)
c.1968C= (p.Asn656=)
c.2688C= (p.Asn896=)
c.*68C= (n.*68C=)
c.2838C= (p.Asn946=)
c.2811C= (p.Asn937=)
7g.150947492G>TCA369852978KCNH2n.3821C>A
c.2988C>A (p.Asn996Lys)
c.1968C>A (p.Asn656Lys)
c.2688C>A (p.Asn896Lys)
c.*68C>A (n.*68C>A)
c.2838C>A (p.Asn946Lys)
c.2811C>A (p.Asn937Lys)
gnomAD v4
7g.150947493T>ACA007728KCNH2n.3820A>T
c.2987A>T (p.Asn996Ile)
c.1967A>T (p.Asn656Ile)
c.2687A>T (p.Asn896Ile)
c.*67A>T (n.*67A>T)
c.2837A>T (p.Asn946Ile)
c.2810A>T (p.Asn937Ile)
ClinVar dbSNP
7g.150947493T>CCA369852979KCNH2n.3820A>G
c.2987A>G (p.Asn996Ser)
c.1967A>G (p.Asn656Ser)
c.2687A>G (p.Asn896Ser)
c.*67A>G (n.*67A>G)
c.2837A>G (p.Asn946Ser)
c.2810A>G (p.Asn937Ser)
ClinVar dbSNP
7g.150947493T>GCA369852980KCNH2n.3820A>C
c.2987A>C (p.Asn996Thr)
c.1967A>C (p.Asn656Thr)
c.2687A>C (p.Asn896Thr)
c.*67A>C (n.*67A>C)
c.2837A>C (p.Asn946Thr)
c.2810A>C (p.Asn937Thr)
7g.150947493T=CA1752429460KCNH2n.3820A=
c.2987A= (p.Asn996=)
c.1967A= (p.Asn656=)
c.2687A= (p.Asn896=)
c.*67A= (n.*67A=)
c.2837A= (p.Asn946=)
c.2810A= (p.Asn937=)
7g.150947494T>ACA369852981KCNH2n.3819A>T
c.2986A>T (p.Asn996Tyr)
c.1966A>T (p.Asn656Tyr)
c.2686A>T (p.Asn896Tyr)
c.*66A>T (n.*66A>T)
c.2836A>T (p.Asn946Tyr)
c.2809A>T (p.Asn937Tyr)
7g.150947494T>CCA369852982KCNH2n.3819A>G
c.2986A>G (p.Asn996Asp)
c.1966A>G (p.Asn656Asp)
c.2686A>G (p.Asn896Asp)
c.*66A>G (n.*66A>G)
c.2836A>G (p.Asn946Asp)
c.2809A>G (p.Asn937Asp)
gnomAD v4
7g.150947494T>GCA369852983KCNH2n.3819A>C
c.2986A>C (p.Asn996His)
c.1966A>C (p.Asn656His)
c.2686A>C (p.Asn896His)
c.*66A>C (n.*66A>C)
c.2836A>C (p.Asn946His)
c.2809A>C (p.Asn937His)
7g.150947495G>ACA458644952KCNH2n.3818C>T
c.2985C>T (p.Ser995=)
c.1965C>T (p.Ser655=)
c.2685C>T (p.Ser895=)
c.*65C>T (n.*65C>T)
c.2835C>T (p.Ser945=)
c.2808C>T (p.Ser936=)
gnomAD v4
7g.150947495G>CCA458644953KCNH2n.3818C>G
c.2985C>G (p.Ser995=)
c.1965C>G (p.Ser655=)
c.2685C>G (p.Ser895=)
c.*65C>G (n.*65C>G)
c.2835C>G (p.Ser945=)
c.2808C>G (p.Ser936=)
dbSNP gnomAD v2
7g.150947495G=CA1752429466KCNH2n.3818C=
c.2985C= (p.Ser995=)
c.1965C= (p.Ser655=)
c.2685C= (p.Ser895=)
c.*65C= (n.*65C=)
c.2835C= (p.Ser945=)
c.2808C= (p.Ser936=)
7g.150947495G>TCA458644954KCNH2n.3818C>A
c.2985C>A (p.Ser995=)
c.1965C>A (p.Ser655=)
c.2685C>A (p.Ser895=)
c.*65C>A (n.*65C>A)
c.2835C>A (p.Ser945=)
c.2808C>A (p.Ser936=)
gnomAD v4
7g.150947496G>ACA369852984KCNH2n.3817C>T
c.2984C>T (p.Ser995Phe)
c.1964C>T (p.Ser655Phe)
c.2684C>T (p.Ser895Phe)
c.*64C>T (n.*64C>T)
c.2834C>T (p.Ser945Phe)
c.2807C>T (p.Ser936Phe)
7g.150947496G>CCA369852985KCNH2n.3817C>G
c.2984C>G (p.Ser995Cys)
c.1964C>G (p.Ser655Cys)
c.2684C>G (p.Ser895Cys)
c.*64C>G (n.*64C>G)
c.2834C>G (p.Ser945Cys)
c.2807C>G (p.Ser936Cys)
7g.150947496G>TCA369852986KCNH2n.3817C>A
c.2984C>A (p.Ser995Tyr)
c.1964C>A (p.Ser655Tyr)
c.2684C>A (p.Ser895Tyr)
c.*64C>A (n.*64C>A)
c.2834C>A (p.Ser945Tyr)
c.2807C>A (p.Ser936Tyr)
ClinVar dbSNP
7g.150947497A>CCA369852987KCNH2n.3816T>G
c.2983T>G (p.Ser995Ala)
c.1963T>G (p.Ser655Ala)
c.2683T>G (p.Ser895Ala)
c.*63T>G (n.*63T>G)
c.2833T>G (p.Ser945Ala)
c.2806T>G (p.Ser936Ala)
7g.150947497A>GCA369852988KCNH2n.3816T>C
c.2983T>C (p.Ser995Pro)
c.1963T>C (p.Ser655Pro)
c.2683T>C (p.Ser895Pro)
c.*63T>C (n.*63T>C)
c.2833T>C (p.Ser945Pro)
c.2806T>C (p.Ser936Pro)
gnomAD v4
7g.150947497A>TCA369852989KCNH2n.3816T>A
c.2983T>A (p.Ser995Thr)
c.1963T>A (p.Ser655Thr)
c.2683T>A (p.Ser895Thr)
c.*63T>A (n.*63T>A)
c.2833T>A (p.Ser945Thr)
c.2806T>A (p.Ser936Thr)
7g.150947498C>ACA458644955KCNH2n.3815G>T
c.2982G>T (p.Val994=)
c.1962G>T (p.Val654=)
c.2682G>T (p.Val894=)
c.*62G>T (n.*62G>T)
c.2832G>T (p.Val944=)
c.2805G>T (p.Val935=)
gnomAD v4
7g.150947498C=CA1752429468KCNH2n.3815G=
c.2982G= (p.Val994=)
c.1962G= (p.Val654=)
c.2682G= (p.Val894=)
c.*62G= (n.*62G=)
c.2832G= (p.Val944=)
c.2805G= (p.Val935=)
7g.150947498C>GCA458644956KCNH2n.3815G>C
c.2982G>C (p.Val994=)
c.1962G>C (p.Val654=)
c.2682G>C (p.Val894=)
c.*62G>C (n.*62G>C)
c.2832G>C (p.Val944=)
c.2805G>C (p.Val935=)
7g.150947498C>TCA458644957KCNH2n.3815G>A
c.2982G>A (p.Val994=)
c.1962G>A (p.Val654=)
c.2682G>A (p.Val894=)
c.*62G>A (n.*62G>A)
c.2832G>A (p.Val944=)
c.2805G>A (p.Val935=)
dbSNP gnomAD v2 gnomAD v4
7g.150947499A>CCA369852990KCNH2n.3814T>G
c.2981T>G (p.Val994Gly)
c.1961T>G (p.Val654Gly)
c.2681T>G (p.Val894Gly)
c.*61T>G (n.*61T>G)
c.2831T>G (p.Val944Gly)
c.2804T>G (p.Val935Gly)
gnomAD v4
7g.150947499A>GCA369852991KCNH2n.3814T>C
c.2981T>C (p.Val994Ala)
c.1961T>C (p.Val654Ala)
c.2681T>C (p.Val894Ala)
c.*61T>C (n.*61T>C)
c.2831T>C (p.Val944Ala)
c.2804T>C (p.Val935Ala)
gnomAD v4
7g.150947499A>TCA369852992KCNH2n.3814T>A
c.2981T>A (p.Val994Glu)
c.1961T>A (p.Val654Glu)
c.2681T>A (p.Val894Glu)
c.*61T>A (n.*61T>A)
c.2831T>A (p.Val944Glu)
c.2804T>A (p.Val935Glu)
7g.150947500C>ACA369852994KCNH2n.3813G>T
c.2980G>T (p.Val994Leu)
c.1960G>T (p.Val654Leu)
c.2680G>T (p.Val894Leu)
c.*60G>T (n.*60G>T)
c.2830G>T (p.Val944Leu)
c.2803G>T (p.Val935Leu)
gnomAD v4
7g.150947500C>GCA369852995KCNH2n.3813G>C
c.2980G>C (p.Val994Leu)
c.1960G>C (p.Val654Leu)
c.2680G>C (p.Val894Leu)
c.*60G>C (n.*60G>C)
c.2830G>C (p.Val944Leu)
c.2803G>C (p.Val935Leu)
7g.150947500C>TCA369852993KCNH2n.3813G>A
c.2980G>A (p.Val994Met)
c.1960G>A (p.Val654Met)
c.2680G>A (p.Val894Met)
c.*60G>A (n.*60G>A)
c.2830G>A (p.Val944Met)
c.2803G>A (p.Val935Met)
gnomAD v4
7g.150947501T>ACA458644958KCNH2n.3812A>T
c.2979A>T (p.Gly993=)
c.1959A>T (p.Gly653=)
c.2679A>T (p.Gly893=)
c.*59A>T (n.*59A>T)
c.2829A>T (p.Gly943=)
c.2802A>T (p.Gly934=)
gnomAD v4
7g.150947501T>CCA458644959KCNH2n.3812A>G
c.2979A>G (p.Gly993=)
c.1959A>G (p.Gly653=)
c.2679A>G (p.Gly893=)
c.*59A>G (n.*59A>G)
c.2829A>G (p.Gly943=)
c.2802A>G (p.Gly934=)
7g.150947501T>GCA458644960KCNH2n.3812A>C
c.2979A>C (p.Gly993=)
c.1959A>C (p.Gly653=)
c.2679A>C (p.Gly893=)
c.*59A>C (n.*59A>C)
c.2829A>C (p.Gly943=)
c.2802A>C (p.Gly934=)
ClinVar dbSNP
7g.150947502C>ACA369852997KCNH2n.3811G>T
c.2978G>T (p.Gly993Val)
c.1958G>T (p.Gly653Val)
c.2678G>T (p.Gly893Val)
c.*58G>T (n.*58G>T)
c.2828G>T (p.Gly943Val)
c.2801G>T (p.Gly934Val)
gnomAD v4
7g.150947502C>GCA369852996KCNH2n.3811G>C
c.2978G>C (p.Gly993Ala)
c.1958G>C (p.Gly653Ala)
c.2678G>C (p.Gly893Ala)
c.*58G>C (n.*58G>C)
c.2828G>C (p.Gly943Ala)
c.2801G>C (p.Gly934Ala)
7g.150947502C>TCA369852998KCNH2n.3811G>A
c.2978G>A (p.Gly993Glu)
c.1958G>A (p.Gly653Glu)
c.2678G>A (p.Gly893Glu)
c.*58G>A (n.*58G>A)
c.2828G>A (p.Gly943Glu)
c.2801G>A (p.Gly934Glu)
7g.150947503C>ACA369852999KCNH2n.3810G>T
c.2977G>T (p.Gly993Ter)
c.1957G>T (p.Gly653Ter)
c.2677G>T (p.Gly893Ter)
c.*57G>T (n.*57G>T)
c.2827G>T (p.Gly943Ter)
c.2800G>T (p.Gly934Ter)
dbSNP gnomAD v2 gnomAD v4
7g.150947503C=CA1752429470KCNH2n.3810G=
c.2977G= (p.Gly993=)
c.1957G= (p.Gly653=)
c.2677G= (p.Gly893=)
c.*57G= (n.*57G=)
c.2827G= (p.Gly943=)
c.2800G= (p.Gly934=)
7g.150947503C>GCA369853000KCNH2n.3810G>C
c.2977G>C (p.Gly993Arg)
c.1957G>C (p.Gly653Arg)
c.2677G>C (p.Gly893Arg)
c.*57G>C (n.*57G>C)
c.2827G>C (p.Gly943Arg)
c.2800G>C (p.Gly934Arg)
7g.150947503C>TCA369853001KCNH2n.3810G>A
c.2977G>A (p.Gly993Arg)
c.1957G>A (p.Gly653Arg)
c.2677G>A (p.Gly893Arg)
c.*57G>A (n.*57G>A)
c.2827G>A (p.Gly943Arg)
c.2800G>A (p.Gly934Arg)
7g.150947504T>ACA458644961KCNH2n.3809A>T
c.2976A>T (p.Ser992=)
c.1956A>T (p.Ser652=)
c.2676A>T (p.Ser892=)
c.*56A>T (n.*56A>T)
c.2826A>T (p.Ser942=)
c.2799A>T (p.Ser933=)
gnomAD v4
7g.150947504T>CCA458644962KCNH2n.3809A>G
c.2976A>G (p.Ser992=)
c.1956A>G (p.Ser652=)
c.2676A>G (p.Ser892=)
c.*56A>G (n.*56A>G)
c.2826A>G (p.Ser942=)
c.2799A>G (p.Ser933=)
ClinVar dbSNP gnomAD v4
7g.150947504T>GCA458644963KCNH2n.3809A>C
c.2976A>C (p.Ser992=)
c.1956A>C (p.Ser652=)
c.2676A>C (p.Ser892=)
c.*56A>C (n.*56A>C)
c.2826A>C (p.Ser942=)
c.2799A>C (p.Ser933=)
7g.150947505G>ACA369853002KCNH2n.3808C>T
c.2975C>T (p.Ser992Leu)
c.1955C>T (p.Ser652Leu)
c.2675C>T (p.Ser892Leu)
c.*55C>T (n.*55C>T)
c.2825C>T (p.Ser942Leu)
c.2798C>T (p.Ser933Leu)
gnomAD v4
7g.150947505G>CCA369853003KCNH2n.3808C>G
c.2975C>G (p.Ser992Ter)
c.1955C>G (p.Ser652Ter)
c.2675C>G (p.Ser892Ter)
c.*55C>G (n.*55C>G)
c.2825C>G (p.Ser942Ter)
c.2798C>G (p.Ser933Ter)
7g.150947505G>TCA369853004KCNH2n.3808C>A
c.2975C>A (p.Ser992Ter)
c.1955C>A (p.Ser652Ter)
c.2675C>A (p.Ser892Ter)
c.*55C>A (n.*55C>A)
c.2825C>A (p.Ser942Ter)
c.2798C>A (p.Ser933Ter)
gnomAD v4
7g.150947506A>CCA369853005KCNH2n.3807T>G
c.2974T>G (p.Ser992Ala)
c.1954T>G (p.Ser652Ala)
c.2674T>G (p.Ser892Ala)
c.*54T>G (n.*54T>G)
c.2824T>G (p.Ser942Ala)
c.2797T>G (p.Ser933Ala)
ClinVar
7g.150947506A>GCA369853006KCNH2n.3807T>C
c.2974T>C (p.Ser992Pro)
c.1954T>C (p.Ser652Pro)
c.2674T>C (p.Ser892Pro)
c.*54T>C (n.*54T>C)
c.2824T>C (p.Ser942Pro)
c.2797T>C (p.Ser933Pro)
7g.150947506A>TCA369853007KCNH2n.3807T>A
c.2974T>A (p.Ser992Thr)
c.1954T>A (p.Ser652Thr)
c.2674T>A (p.Ser892Thr)
c.*54T>A (n.*54T>A)
c.2824T>A (p.Ser942Thr)
c.2797T>A (p.Ser933Thr)
7g.150947507G>ACA458644964KCNH2n.3806C>T
c.2973C>T (p.Phe991=)
c.1953C>T (p.Phe651=)
c.2673C>T (p.Phe891=)
c.*53C>T (n.*53C>T)
c.2823C>T (p.Phe941=)
c.2796C>T (p.Phe932=)
7g.150947507G>CCA369853008KCNH2n.3806C>G
c.2973C>G (p.Phe991Leu)
c.1953C>G (p.Phe651Leu)
c.2673C>G (p.Phe891Leu)
c.*53C>G (n.*53C>G)
c.2823C>G (p.Phe941Leu)
c.2796C>G (p.Phe932Leu)
ClinVar gnomAD v4
7g.150947507G>TCA369853009KCNH2n.3806C>A
c.2973C>A (p.Phe991Leu)
c.1953C>A (p.Phe651Leu)
c.2673C>A (p.Phe891Leu)
c.*53C>A (n.*53C>A)
c.2823C>A (p.Phe941Leu)
c.2796C>A (p.Phe932Leu)
7g.150947508A>CCA369853012KCNH2n.3805T>G
c.2972T>G (p.Phe991Cys)
c.1952T>G (p.Phe651Cys)
c.2672T>G (p.Phe891Cys)
c.*52T>G (n.*52T>G)
c.2822T>G (p.Phe941Cys)
c.2795T>G (p.Phe932Cys)
7g.150947508A>GCA369853011KCNH2n.3805T>C
c.2972T>C (p.Phe991Ser)
c.1952T>C (p.Phe651Ser)
c.2672T>C (p.Phe891Ser)
c.*52T>C (n.*52T>C)
c.2822T>C (p.Phe941Ser)
c.2795T>C (p.Phe932Ser)
gnomAD v4
7g.150947508A>TCA369853010KCNH2n.3805T>A
c.2972T>A (p.Phe991Tyr)
c.1952T>A (p.Phe651Tyr)
c.2672T>A (p.Phe891Tyr)
c.*52T>A (n.*52T>A)
c.2822T>A (p.Phe941Tyr)
c.2795T>A (p.Phe932Tyr)
7g.150947509A>CCA369853013KCNH2n.3804T>G
c.2971T>G (p.Phe991Val)
c.1951T>G (p.Phe651Val)
c.2671T>G (p.Phe891Val)
c.*51T>G (n.*51T>G)
c.2821T>G (p.Phe941Val)
c.2794T>G (p.Phe932Val)
7g.150947509A>GCA369853014KCNH2n.3804T>C
c.2971T>C (p.Phe991Leu)
c.1951T>C (p.Phe651Leu)
c.2671T>C (p.Phe891Leu)
c.*51T>C (n.*51T>C)
c.2821T>C (p.Phe941Leu)
c.2794T>C (p.Phe932Leu)
gnomAD v4
7g.150947509A>TCA369853015KCNH2n.3804T>A
c.2971T>A (p.Phe991Ile)
c.1951T>A (p.Phe651Ile)
c.2671T>A (p.Phe891Ile)
c.*51T>A (n.*51T>A)
c.2821T>A (p.Phe941Ile)
c.2794T>A (p.Phe932Ile)
gnomAD v4
7g.150947510G>ACA458644965KCNH2n.3803C>T
c.2970C>T (p.Ala990=)
c.1950C>T (p.Ala650=)
c.2670C>T (p.Ala890=)
c.*50C>T (n.*50C>T)
c.2820C>T (p.Ala940=)
c.2793C>T (p.Ala931=)
dbSNP gnomAD v2
7g.150947510G>CCA458644967KCNH2n.3803C>G
c.2970C>G (p.Ala990=)
c.1950C>G (p.Ala650=)
c.2670C>G (p.Ala890=)
c.*50C>G (n.*50C>G)
c.2820C>G (p.Ala940=)
c.2793C>G (p.Ala931=)
7g.150947510G=CA1752429473KCNH2n.3803C=
c.2970C= (p.Ala990=)
c.1950C= (p.Ala650=)
c.2670C= (p.Ala890=)
c.*50C= (n.*50C=)
c.2820C= (p.Ala940=)
c.2793C= (p.Ala931=)
7g.150947510G>TCA458644966KCNH2n.3803C>A
c.2970C>A (p.Ala990=)
c.1950C>A (p.Ala650=)
c.2670C>A (p.Ala890=)
c.*50C>A (n.*50C>A)
c.2820C>A (p.Ala940=)
c.2793C>A (p.Ala931=)
7g.150947511G>ACA369853016KCNH2n.3802C>T
c.2969C>T (p.Ala990Val)
c.1949C>T (p.Ala650Val)
c.2669C>T (p.Ala890Val)
c.*49C>T (n.*49C>T)
c.2819C>T (p.Ala940Val)
c.2792C>T (p.Ala931Val)
7g.150947511G>CCA369853017KCNH2n.3802C>G
c.2969C>G (p.Ala990Gly)
c.1949C>G (p.Ala650Gly)
c.2669C>G (p.Ala890Gly)
c.*49C>G (n.*49C>G)
c.2819C>G (p.Ala940Gly)
c.2792C>G (p.Ala931Gly)
7g.150947511G>TCA369853018KCNH2n.3802C>A
c.2969C>A (p.Ala990Asp)
c.1949C>A (p.Ala650Asp)
c.2669C>A (p.Ala890Asp)
c.*49C>A (n.*49C>A)
c.2819C>A (p.Ala940Asp)
c.2792C>A (p.Ala931Asp)
7g.150947512C>ACA369853019KCNH2n.3801G>T
c.2968G>T (p.Ala990Ser)
c.1948G>T (p.Ala650Ser)
c.2668G>T (p.Ala890Ser)
c.*48G>T (n.*48G>T)
c.2818G>T (p.Ala940Ser)
c.2791G>T (p.Ala931Ser)
gnomAD v4 COSMIC COSMIC
7g.150947512C=CA1752429478KCNH2n.3801G=
c.2968G= (p.Ala990=)
c.1948G= (p.Ala650=)
c.2668G= (p.Ala890=)
c.*48G= (n.*48G=)
c.2818G= (p.Ala940=)
c.2791G= (p.Ala931=)
7g.150947512C>GCA369853020KCNH2n.3801G>C
c.2968G>C (p.Ala990Pro)
c.1948G>C (p.Ala650Pro)
c.2668G>C (p.Ala890Pro)
c.*48G>C (n.*48G>C)
c.2818G>C (p.Ala940Pro)
c.2791G>C (p.Ala931Pro)
7g.150947512C>TCA036209KCNH2n.3801G>A
c.2968G>A (p.Ala990Thr)
c.1948G>A (p.Ala650Thr)
c.2668G>A (p.Ala890Thr)
c.*48G>A (n.*48G>A)
c.2818G>A (p.Ala940Thr)
c.2791G>A (p.Ala931Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947513G>ACA036200KCNH2n.3800C>T
c.2967C>T (p.Gly989=)
c.1947C>T (p.Gly649=)
c.2667C>T (p.Gly889=)
c.*47C>T (n.*47C>T)
c.2817C>T (p.Gly939=)
c.2790C>T (p.Gly930=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.150947513G>CCA458644968KCNH2n.3800C>G
c.2967C>G (p.Gly989=)
c.1947C>G (p.Gly649=)
c.2667C>G (p.Gly889=)
c.*47C>G (n.*47C>G)
c.2817C>G (p.Gly939=)
c.2790C>G (p.Gly930=)
7g.150947513G=CA1752429492KCNH2n.3800C=
c.2967C= (p.Gly989=)
c.1947C= (p.Gly649=)
c.2667C= (p.Gly889=)
c.*47C= (n.*47C=)
c.2817C= (p.Gly939=)
c.2790C= (p.Gly930=)
7g.150947513G>TCA16612105KCNH2n.3800C>A
c.2967C>A (p.Gly989=)
c.1947C>A (p.Gly649=)
c.2667C>A (p.Gly889=)
c.*47C>A (n.*47C>A)
c.2817C>A (p.Gly939=)
c.2790C>A (p.Gly930=)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.150947515_150947518dupCA305334KCNH2n.3799-2_3800dup
c.2966-2_2967dup
c.1946-2_1947dup
c.2666-2_2667dup
c.*46-2_*47dup
c.2816-2_2817dup
c.2789-2_2790dup
ClinVar dbSNP
7g.150947514C>ACA369853022KCNH2n.3799G>T
c.2966G>T (p.Gly989Val)
c.1946G>T (p.Gly649Val)
c.2666G>T (p.Gly889Val)
c.*46G>T (n.*46G>T)
c.2816G>T (p.Gly939Val)
c.2789G>T (p.Gly930Val)
gnomAD v4
7g.150947514C=CA1752429501KCNH2n.3799G=
c.2966G= (p.Gly989=)
c.1946G= (p.Gly649=)
c.2666G= (p.Gly889=)
c.*46G= (n.*46G=)
c.2816G= (p.Gly939=)
c.2789G= (p.Gly930=)
7g.150947514C>GCA369853023KCNH2n.3799G>C
c.2966G>C (p.Gly989Ala)
c.1946G>C (p.Gly649Ala)
c.2666G>C (p.Gly889Ala)
c.*46G>C (n.*46G>C)
c.2816G>C (p.Gly939Ala)
c.2789G>C (p.Gly930Ala)
7g.150947514C>TCA369853021KCNH2n.3799G>A
c.2966G>A (p.Gly989Asp)
c.1946G>A (p.Gly649Asp)
c.2666G>A (p.Gly889Asp)
c.*46G>A (n.*46G>A)
c.2816G>A (p.Gly939Asp)
c.2789G>A (p.Gly930Asp)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947665_150947666insGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCACCA916080377KCNH2n.3799_3800insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG
c.2966_2967insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG
c.1946_1947insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG
c.2666_2667insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG
c.*46_*47insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG
c.2816_2817insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG
c.2789_2790insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG
7g.150947515C>ACA369853024KCNH2n.3799-1G>T
c.2966-1G>T (n.2966-1G>T)
c.1946-1G>T (n.1946-1G>T)
c.2666-1G>T (n.2666-1G>T)
c.*46-1G>T (n.*46-1G>T)
c.2816-1G>T (n.2816-1G>T)
c.2789-1G>T (n.2789-1G>T)
gnomAD v4
7g.150947515C>GCA369853025KCNH2n.3799-1G>C
c.2966-1G>C (n.2966-1G>C)
c.1946-1G>C (n.1946-1G>C)
c.2666-1G>C (n.2666-1G>C)
c.*46-1G>C (n.*46-1G>C)
c.2816-1G>C (n.2816-1G>C)
c.2789-1G>C (n.2789-1G>C)
COSMIC
7g.150947515C>TCA369853026KCNH2n.3799-1G>A
c.2966-1G>A (n.2966-1G>A)
c.1946-1G>A (n.1946-1G>A)
c.2666-1G>A (n.2666-1G>A)
c.*46-1G>A (n.*46-1G>A)
c.2816-1G>A (n.2816-1G>A)
c.2789-1G>A (n.2789-1G>A)
7g.150947516T>ACA369853027KCNH2n.3799-2A>T
c.2966-2A>T (n.2966-2A>T)
c.1946-2A>T (n.1946-2A>T)
c.2666-2A>T (n.2666-2A>T)
c.*46-2A>T (n.*46-2A>T)
c.2816-2A>T (n.2816-2A>T)
c.2789-2A>T (n.2789-2A>T)
7g.150947516T>CCA369853028KCNH2n.3799-2A>G
c.2966-2A>G (n.2966-2A>G)
c.1946-2A>G (n.1946-2A>G)
c.2666-2A>G (n.2666-2A>G)
c.*46-2A>G (n.*46-2A>G)
c.2816-2A>G (n.2816-2A>G)
c.2789-2A>G (n.2789-2A>G)
7g.150947516T>GCA369853029KCNH2n.3799-2A>C
c.2966-2A>C (n.2966-2A>C)
c.1946-2A>C (n.1946-2A>C)
c.2666-2A>C (n.2666-2A>C)
c.*46-2A>C (n.*46-2A>C)
c.2816-2A>C (n.2816-2A>C)
c.2789-2A>C (n.2789-2A>C)
7g.150947517G>ACA2685602067KCNH2n.3799-3C>T
c.2966-3C>T (n.2966-3C>T)
c.1946-3C>T (n.1946-3C>T)
c.2666-3C>T (n.2666-3C>T)
c.*46-3C>T (n.*46-3C>T)
c.2816-3C>T (n.2816-3C>T)
c.2789-3C>T (n.2789-3C>T)
gnomAD v4
7g.150947517G>CCA1139660331KCNH2n.3799-3C>G
c.2966-3C>G (n.2966-3C>G)
c.1946-3C>G (n.1946-3C>G)
c.2666-3C>G (n.2666-3C>G)
c.*46-3C>G (n.*46-3C>G)
c.2816-3C>G (n.2816-3C>G)
c.2789-3C>G (n.2789-3C>G)
ClinVar dbSNP
7g.150947517G=CA1752429504KCNH2n.3799-3C=
c.2966-3C= (n.2966-3C=)
c.1946-3C= (n.1946-3C=)
c.2666-3C= (n.2666-3C=)
c.*46-3C= (n.*46-3C=)
c.2816-3C= (n.2816-3C=)
c.2789-3C= (n.2789-3C=)
7g.150947518C>ACA579075367KCNH2n.3799-4G>T
c.2966-4G>T (n.2966-4G>T)
c.1946-4G>T (n.1946-4G>T)
c.2666-4G>T (n.2666-4G>T)
c.*46-4G>T (n.*46-4G>T)
c.2816-4G>T (n.2816-4G>T)
c.2789-4G>T (n.2789-4G>T)
dbSNP gnomAD v2 gnomAD v4
7g.150947518C=CA1752429508KCNH2n.3799-4G=
c.2966-4G= (n.2966-4G=)
c.1946-4G= (n.1946-4G=)
c.2666-4G= (n.2666-4G=)
c.*46-4G= (n.*46-4G=)
c.2816-4G= (n.2816-4G=)
c.2789-4G= (n.2789-4G=)
7g.150947518C>TCA913188234KCNH2n.3799-4G>A
c.2966-4G>A (n.2966-4G>A)
c.1946-4G>A (n.1946-4G>A)
c.2666-4G>A (n.2666-4G>A)
c.*46-4G>A (n.*46-4G>A)
c.2816-4G>A (n.2816-4G>A)
c.2789-4G>A (n.2789-4G>A)
ClinVar dbSNP gnomAD v4
7g.150947519A>GCA2499218786KCNH2n.3799-5T>C
c.2966-5T>C (n.2966-5T>C)
c.1946-5T>C (n.1946-5T>C)
c.2666-5T>C (n.2666-5T>C)
c.*46-5T>C (n.*46-5T>C)
c.2816-5T>C (n.2816-5T>C)
c.2789-5T>C (n.2789-5T>C)
ClinVar dbSNP
7g.150947519A>TCA2685602070KCNH2n.3799-5T>A
c.2966-5T>A (n.2966-5T>A)
c.1946-5T>A (n.1946-5T>A)
c.2666-5T>A (n.2666-5T>A)
c.*46-5T>A (n.*46-5T>A)
c.2816-5T>A (n.2816-5T>A)
c.2789-5T>A (n.2789-5T>A)
gnomAD v4
7g.150947520G>ACA036187KCNH2n.3799-6C>T
c.2966-6C>T (n.2966-6C>T)
c.1946-6C>T (n.1946-6C>T)
c.2666-6C>T (n.2666-6C>T)
c.*46-6C>T (n.*46-6C>T)
c.2816-6C>T (n.2816-6C>T)
c.2789-6C>T (n.2789-6C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.150947520G>CCA169072189KCNH2n.3799-6C>G
c.2966-6C>G (n.2966-6C>G)
c.1946-6C>G (n.1946-6C>G)
c.2666-6C>G (n.2666-6C>G)
c.*46-6C>G (n.*46-6C>G)
c.2816-6C>G (n.2816-6C>G)
c.2789-6C>G (n.2789-6C>G)
dbSNP gnomAD v4
7g.150947520G=CA1752429511KCNH2n.3799-6C=
c.2966-6C= (n.2966-6C=)
c.1946-6C= (n.1946-6C=)
c.2666-6C= (n.2666-6C=)
c.*46-6C= (n.*46-6C=)
c.2816-6C= (n.2816-6C=)
c.2789-6C= (n.2789-6C=)
7g.150947522C>ACA1139660332KCNH2n.3799-8G>T
c.2966-8G>T (n.2966-8G>T)
c.1946-8G>T (n.1946-8G>T)
c.2666-8G>T (n.2666-8G>T)
c.*46-8G>T (n.*46-8G>T)
c.2816-8G>T (n.2816-8G>T)
c.2789-8G>T (n.2789-8G>T)
ClinVar dbSNP
7g.150947522C=CA1752429516KCNH2n.3799-8G=
c.2966-8G= (n.2966-8G=)
c.1946-8G= (n.1946-8G=)
c.2666-8G= (n.2666-8G=)
c.*46-8G= (n.*46-8G=)
c.2816-8G= (n.2816-8G=)
c.2789-8G= (n.2789-8G=)
7g.150947522C>TCA579075368KCNH2n.3799-8G>A
c.2966-8G>A (n.2966-8G>A)
c.1946-8G>A (n.1946-8G>A)
c.2666-8G>A (n.2666-8G>A)
c.*46-8G>A (n.*46-8G>A)
c.2816-8G>A (n.2816-8G>A)
c.2789-8G>A (n.2789-8G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.150947522_150947524delinsCAGCA1752429515KCNH2n.3799-10_3799-8delinsCTG
c.2966-10_2966-8delinsCTG (n.2966-10_2966-8delinsCTG)
c.1946-10_1946-8delinsCTG (n.1946-10_1946-8delinsCTG)
c.2666-10_2666-8delinsCTG (n.2666-10_2666-8delinsCTG)
c.*46-10_*46-8delinsCTG (n.*46-10_*46-8delinsCTG)
c.2816-10_2816-8delinsCTG (n.2816-10_2816-8delinsCTG)
c.2789-10_2789-8delinsCTG (n.2789-10_2789-8delinsCTG)
7g.150947523A=CA1752429520KCNH2n.3799-9T=
c.2966-9T= (n.2966-9T=)
c.1946-9T= (n.1946-9T=)
c.2666-9T= (n.2666-9T=)
c.*46-9T= (n.*46-9T=)
c.2816-9T= (n.2816-9T=)
c.2789-9T= (n.2789-9T=)
7g.150947523A>GCA1752429521KCNH2n.3799-9T>C
c.2966-9T>C (n.2966-9T>C)
c.1946-9T>C (n.1946-9T>C)
c.2666-9T>C (n.2666-9T>C)
c.*46-9T>C (n.*46-9T>C)
c.2816-9T>C (n.2816-9T>C)
c.2789-9T>C (n.2789-9T>C)
dbSNP
7g.150947527_150947528delCA1139660333KCNH2n.3799-10_3799-9del
c.2966-10_2966-9del (n.2966-10_2966-9del)
c.1946-10_1946-9del (n.1946-10_1946-9del)
c.2666-10_2666-9del (n.2666-10_2666-9del)
c.*46-10_*46-9del (n.*46-10_*46-9del)
c.2816-10_2816-9del (n.2816-10_2816-9del)
c.2789-10_2789-9del (n.2789-10_2789-9del)
ClinVar dbSNP gnomAD v4
7g.150947524G>TCA2685602074KCNH2n.3799-10C>A
c.2966-10C>A (n.2966-10C>A)
c.1946-10C>A (n.1946-10C>A)
c.2666-10C>A (n.2666-10C>A)
c.*46-10C>A (n.*46-10C>A)
c.2816-10C>A (n.2816-10C>A)
c.2789-10C>A (n.2789-10C>A)
gnomAD v4
7g.150947525A>CCA2685602076KCNH2n.3799-11T>G
c.2966-11T>G (n.2966-11T>G)
c.1946-11T>G (n.1946-11T>G)
c.2666-11T>G (n.2666-11T>G)
c.*46-11T>G (n.*46-11T>G)
c.2816-11T>G (n.2816-11T>G)
c.2789-11T>G (n.2789-11T>G)
gnomAD v4
7g.150947525A>GCA2685602077KCNH2n.3799-11T>C
c.2966-11T>C (n.2966-11T>C)
c.1946-11T>C (n.1946-11T>C)
c.2666-11T>C (n.2666-11T>C)
c.*46-11T>C (n.*46-11T>C)
c.2816-11T>C (n.2816-11T>C)
c.2789-11T>C (n.2789-11T>C)
gnomAD v4

Number of alleles fetched