Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.150947163_150948277del | CA1139660328 | KCNH2 | n.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 |
7 | g.150947372_150953685dup | CA2580614280 | KCNH2 | n.1962-831_3942dup c.1129-831_3109dup c.109-831_2089dup c.829-831_2809dup c.979-831_2959dup c.952-831_2932dup | |
7 | g.150947391_150947665dup | CA645372846 | KCNH2 | n.3740_3923dup c.2907_3090dup c.1887_2070dup c.2607_2790dup c.2757_2940dup c.2730_2913dup | ClinVar |
7 | g.150947425_150947430del | CA2685601933 | KCNH2 | n.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 |
7 | g.150947421_150947430dup | CA2685601934 | KCNH2 | n.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 |
7 | g.150947425T>A | CA369852796 | KCNH2 | n.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) | |
7 | g.150947425T>C | CA369852798 | KCNH2 | n.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) | |
7 | g.150947425T>G | CA369852799 | KCNH2 | n.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 |
7 | g.150947425T= | CA1752429257 | KCNH2 | n.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=) | |
7 | g.150947425_150947426delinsTG | CA1752429254 | KCNH2 | n.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=) | |
7 | g.150947425_150947431delinsTGGGGGC | CA1752429255 | KCNH2 | n.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=) | |
7 | g.150947425_150947426insTTGTGGCGGTGGGGGGGGGG | CA2685601940 | KCNH2 | n.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 |
7 | g.150947426G>A | CA458644885 | KCNH2 | n.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 |
7 | g.150947426G>C | CA458644886 | KCNH2 | n.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 |
7 | g.150947426G= | CA1752429264 | KCNH2 | n.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=) | |
7 | g.150947426G>T | CA458644887 | KCNH2 | n.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 |
7 | g.150947428_150947429insTGGGGGGGGG | CA2685601939 | KCNH2 | n.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 |
7 | g.150947430_150947431insGGGGGG | CA2685601945 | KCNH2 | n.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 |
7 | g.150947430_150947431insGGGGGGG | CA913188232 | KCNH2 | n.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 |
7 | g.150947430_150947431insGGGGGGGGGG | CA2685601948 | KCNH2 | n.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 |
7 | g.150947430_150947431insGGGGGGGGGGG | CA2685601946 | KCNH2 | n.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 |
7 | g.150947430_150947431insGGGGGGGGGGGGG | CA2685601941 | KCNH2 | n.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 |
7 | g.150947430_150947431insGGGGGGGGGGGGGGG | CA2685601947 | KCNH2 | n.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 |
7 | g.150947430_150947431insGGGGGGGGGGGGGGGG | CA2685601942 | KCNH2 | n.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 |
7 | g.150947430_150947431insGGGGGGGGGGGGGGGGGG | CA2685601943 | KCNH2 | n.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 |
7 | g.150947430_150947431insGGGGGGGGGGGGGGGGGGGGG | CA2778425795 | KCNH2 | n.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) | |
7 | g.150947430_150947431insTTGTGGTGGGGGGGGGGGGGGGGGG | CA2685601938 | KCNH2 | n.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 |
7 | g.150947430_150947431insGTTTTTGGGGGGGGGGGGGGGGGGGGG | CA2685601937 | KCNH2 | n.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 |
7 | g.150947430_150947431insGGGGGGTTGTGGGGGGGGGGGGGGGGGGGGG | CA2685601936 | KCNH2 | n.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 |
7 | g.150947430dup | CA2550808594 | KCNH2 | n.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?) | |
7 | g.150947426_150947430dup | CA2685601944 | KCNH2 | n.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 |
7 | g.150947430del | CA658797032 | KCNH2 | n.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 |
7 | g.150947430_150947435del | CA1752429262 | KCNH2 | n.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 |
7 | g.150947427G>A | CA169072005 | KCNH2 | n.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 |
7 | g.150947427G>C | CA369852803 | KCNH2 | n.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) | |
7 | g.150947427G= | CA1752429272 | KCNH2 | n.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=) | |
7 | g.150947427G>T | CA369852801 | KCNH2 | n.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 |
7 | g.150947428G>A | CA169072026 | KCNH2 | n.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 |
7 | g.150947428G>C | CA007858 | KCNH2 | n.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 |
7 | g.150947428G= | CA1752429278 | KCNH2 | n.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=) | |
7 | g.150947428G>T | CA369852806 | KCNH2 | n.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 |
7 | g.150947429G>A | CA169072031 | KCNH2 | n.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 |
7 | g.150947429G>C | CA458644889 | KCNH2 | n.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=) | |
7 | g.150947429G= | CA1752429284 | KCNH2 | n.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=) | |
7 | g.150947429G>T | CA169072038 | KCNH2 | n.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 |
7 | g.150947430G>A | CA369852808 | KCNH2 | n.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 |
7 | g.150947430G>C | CA369852810 | KCNH2 | n.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) | |
7 | g.150947430G= | CA1752429297 | KCNH2 | n.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=) | |
7 | g.150947430G>T | CA369852812 | KCNH2 | n.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 |
7 | g.150947431C>A | CA169072043 | KCNH2 | n.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 |
7 | g.150947431C= | CA1752429301 | KCNH2 | n.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=) | |
7 | g.150947431C>G | CA369852814 | KCNH2 | n.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 |
7 | g.150947431C>T | CA369852815 | KCNH2 | n.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 |
7 | g.150947431_150947441del | CA2695208794 | KCNH2 | n.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?) | |
7 | g.150947432G>A | CA036382 | KCNH2 | n.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 |
7 | g.150947432G>C | CA458644891 | KCNH2 | n.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 |
7 | g.150947432G= | CA1752429308 | KCNH2 | n.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=) | |
7 | g.150947432G>T | CA458644892 | KCNH2 | n.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 |
7 | g.150947433_150947434insTGGGGGGGGGGGGGGGGGG | CA2685601949 | KCNH2 | n.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 |
7 | g.150947435_150947436insGGGGGGGGGGGGG | CA913188233 | KCNH2 | n.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 |
7 | g.150947435_150947436insGGGGGGGGGGGGGGGG | CA2685601950 | KCNH2 | n.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 |
7 | g.150947432_150947444del | CA2695208795 | KCNH2 | n.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?) | |
7 | g.150947433G>A | CA169072044 | KCNH2 | n.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 |
7 | g.150947433G>C | CA369852820 | KCNH2 | n.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) | |
7 | g.150947433G= | CA1752429312 | KCNH2 | n.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=) | |
7 | g.150947433G>T | CA369852818 | KCNH2 | n.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 |
7 | g.150947434G>A | CA169072048 | KCNH2 | n.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 |
7 | g.150947434G>C | CA369852821 | KCNH2 | n.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) | |
7 | g.150947434G= | CA1752429316 | KCNH2 | n.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=) | |
7 | g.150947434G>T | CA369852823 | KCNH2 | n.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 |
7 | g.150947435G>A | CA458644897 | KCNH2 | n.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 |
7 | g.150947435G>C | CA369852825 | KCNH2 | n.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) | |
7 | g.150947435G= | CA1752429319 | KCNH2 | n.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=) | |
7 | g.150947435G>T | CA369852827 | KCNH2 | n.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 |
7 | g.150947436C>A | CA369852828 | KCNH2 | n.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 |
7 | g.150947436C= | CA1752429321 | KCNH2 | n.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=) | |
7 | g.150947436C>G | CA369852830 | KCNH2 | n.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) | |
7 | g.150947436C>T | CA369852832 | KCNH2 | n.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 |
7 | g.150947437A= | CA1752429324 | KCNH2 | n.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=) | |
7 | g.150947437A>C | CA369852834 | KCNH2 | n.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) | |
7 | g.150947437A>G | CA369852835 | KCNH2 | n.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 |
7 | g.150947437A>T | CA369852836 | KCNH2 | n.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) | |
7 | g.150947438T>A | CA458644899 | KCNH2 | n.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 |
7 | g.150947438T>C | CA458644901 | KCNH2 | n.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=) | |
7 | g.150947438T>G | CA458644903 | KCNH2 | n.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=) | |
7 | g.150947439C>A | CA369852839 | KCNH2 | n.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 |
7 | g.150947439C= | CA1752429326 | KCNH2 | n.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=) | |
7 | g.150947439C>G | CA369852841 | KCNH2 | n.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) | |
7 | g.150947439C>T | CA169072052 | KCNH2 | n.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 |
7 | g.150947440G>A | CA007849 | KCNH2 | n.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 |
7 | g.150947440G>C | CA369852843 | KCNH2 | n.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) | |
7 | g.150947440G= | CA1752429329 | KCNH2 | n.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=) | |
7 | g.150947440G>T | CA458644904 | KCNH2 | n.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=) | |
7 | g.150947441del | CA2573141848 | KCNH2 | n.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 |
7 | g.150947441A= | CA1752429330 | KCNH2 | n.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=) | |
7 | g.150947441A>C | CA458644905 | KCNH2 | n.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=) | |
7 | g.150947441A>G | CA458644906 | KCNH2 | n.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 |
7 | g.150947441A>T | CA458644907 | KCNH2 | n.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=) | |
7 | g.150947442G>A | CA369852845 | KCNH2 | n.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 |
7 | g.150947442G>C | CA369852847 | KCNH2 | n.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 |
7 | g.150947442G>T | CA369852848 | KCNH2 | n.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 |
7 | g.150947444del | CA2579062775 | KCNH2 | n.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?) | |
7 | g.150947443G>A | CA369852850 | KCNH2 | n.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 |
7 | g.150947443G>C | CA369852852 | KCNH2 | n.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 |
7 | g.150947443G>T | CA369852853 | KCNH2 | n.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 |
7 | g.150947444G>A | CA458644911 | KCNH2 | n.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 |
7 | g.150947444G>C | CA458644912 | KCNH2 | n.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 |
7 | g.150947444G>T | CA458644913 | KCNH2 | n.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 |
7 | g.150947445A>C | CA369852856 | KCNH2 | n.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) | |
7 | g.150947445A>G | CA369852857 | KCNH2 | n.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) | |
7 | g.150947445A>T | CA369852858 | KCNH2 | n.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) | |
7 | g.150947446G>A | CA369852860 | KCNH2 | n.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) | |
7 | g.150947446G>C | CA369852862 | KCNH2 | n.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 |
7 | g.150947446G>T | CA369852864 | KCNH2 | n.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 |
7 | g.150947447C>A | CA369852865 | KCNH2 | n.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 |
7 | g.150947447C>G | CA369852866 | KCNH2 | n.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) | |
7 | g.150947447C>T | CA458644915 | KCNH2 | n.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=) | |
7 | g.150947448_150947449del | CA2695208796 | KCNH2 | n.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?) | |
7 | g.150947448del | CA2499218785 | KCNH2 | n.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 |
7 | g.150947448T>A | CA369852870 | KCNH2 | n.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 |
7 | g.150947448T>C | CA369852872 | KCNH2 | n.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 |
7 | g.150947448T>G | CA369852869 | KCNH2 | n.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) | |
7 | g.150947448T= | CA1752429332 | KCNH2 | n.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=) | |
7 | g.150947449C>A | CA369852876 | KCNH2 | n.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) | |
7 | g.150947449C= | CA1752429333 | KCNH2 | n.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=) | |
7 | g.150947449C>G | CA369852878 | KCNH2 | n.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 |
7 | g.150947449C>T | CA369852874 | KCNH2 | n.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 |
7 | g.150947450dup | CA169072055 | KCNH2 | n.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 |
7 | g.150947450C>A | CA369852880 | KCNH2 | n.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 |
7 | g.150947450C>G | CA369852879 | KCNH2 | n.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) | |
7 | g.150947450C>T | CA458644918 | KCNH2 | n.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=) | |
7 | g.150947451T>A | CA369852884 | KCNH2 | n.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) | |
7 | g.150947451T>C | CA369852883 | KCNH2 | n.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 |
7 | g.150947451T>G | CA369852885 | KCNH2 | n.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) | |
7 | g.150947452G>A | CA369852887 | KCNH2 | n.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) | |
7 | g.150947452G>C | CA369852889 | KCNH2 | n.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 |
7 | g.150947452G>T | CA369852890 | KCNH2 | n.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 |
7 | g.150947453G>A | CA458644920 | KCNH2 | n.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=) | |
7 | g.150947453G>C | CA16605072 | KCNH2 | n.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 |
7 | g.150947453G= | CA1752429336 | KCNH2 | n.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=) | |
7 | g.150947453G>T | CA369852892 | KCNH2 | n.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 |
7 | g.150947454T>A | CA369852894 | KCNH2 | n.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) | |
7 | g.150947454T>C | CA369852896 | KCNH2 | n.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 |
7 | g.150947454T>G | CA369852898 | KCNH2 | n.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) | |
7 | g.150947455A>C | CA369852899 | KCNH2 | n.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) | |
7 | g.150947455A>G | CA369852900 | KCNH2 | n.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 |
7 | g.150947455A>T | CA369852901 | KCNH2 | n.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 |
7 | g.150947456C>A | CA369852902 | KCNH2 | n.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) | |
7 | g.150947456C= | CA1752429339 | KCNH2 | n.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=) | |
7 | g.150947456C>G | CA369852903 | KCNH2 | n.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) | |
7 | g.150947456C>T | CA458644923 | KCNH2 | n.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 |
7 | g.150947457T>A | CA369852904 | KCNH2 | n.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 |
7 | g.150947457T>C | CA369852906 | KCNH2 | n.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 |
7 | g.150947457T>G | CA369852905 | KCNH2 | n.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) | |
7 | g.150947458G>A | CA369852907 | KCNH2 | n.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 |
7 | g.150947458G>C | CA369852908 | KCNH2 | n.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) | |
7 | g.150947458G>T | CA369852909 | KCNH2 | n.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 |
7 | g.150947459G>A | CA036369 | KCNH2 | n.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 |
7 | g.150947459G>C | CA458644926 | KCNH2 | n.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 |
7 | g.150947459G= | CA1752429342 | KCNH2 | n.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=) | |
7 | g.150947459G>T | CA458644927 | KCNH2 | n.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=) | |
7 | g.150947460C>A | CA036361 | KCNH2 | n.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 |
7 | g.150947460C= | CA1752429349 | KCNH2 | n.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=) | |
7 | g.150947460C>G | CA369852910 | KCNH2 | n.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 |
7 | g.150947460C>T | CA007832 | KCNH2 | n.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 |
7 | g.150947461G>A | CA369852911 | KCNH2 | n.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 |
7 | g.150947461G>C | CA369852912 | KCNH2 | n.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) | |
7 | g.150947461G= | CA1752429353 | KCNH2 | n.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=) | |
7 | g.150947461G>T | CA369852913 | KCNH2 | n.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 |
7 | g.150947462dup | CA2695208797 | KCNH2 | n.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?) | |
7 | g.150947462del | CA2579062786 | KCNH2 | n.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 |
7 | g.150947462G>A | CA458644929 | KCNH2 | n.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 |
7 | g.150947462G>C | CA458644930 | KCNH2 | n.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=) | |
7 | g.150947462G>T | CA458644931 | KCNH2 | n.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 |
7 | g.150947462_150947463delinsGC | CA1752429355 | KCNH2 | n.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=) | |
7 | g.150947463C>A | CA369852915 | KCNH2 | n.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 |
7 | g.150947463C= | CA1752429359 | KCNH2 | n.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=) | |
7 | g.150947463C>G | CA036327 | KCNH2 | n.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 |
7 | g.150947463C>T | CA369852914 | KCNH2 | n.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 |
7 | g.150947466del | CA007808 | KCNH2 | n.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 |
7 | g.150947464C>A | CA369852916 | KCNH2 | n.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 |
7 | g.150947464C>G | CA369852917 | KCNH2 | n.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) | |
7 | g.150947464C>T | CA369852918 | KCNH2 | n.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 |
7 | g.150947465C>A | CA458644935 | KCNH2 | n.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=) | |
7 | g.150947465C= | CA1752429366 | KCNH2 | n.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=) | |
7 | g.150947465C>G | CA458644932 | KCNH2 | n.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=) | |
7 | g.150947465C>T | CA458644933 | KCNH2 | n.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 |
7 | g.150947466C>A | CA369852919 | KCNH2 | n.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 |
7 | g.150947466C= | CA1752429371 | KCNH2 | n.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=) | |
7 | g.150947466C>G | CA369852920 | KCNH2 | n.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) | |
7 | g.150947466C>T | CA007800 | KCNH2 | n.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 |
7 | g.150947467G>A | CA169072126 | KCNH2 | n.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 |
7 | g.150947467G>C | CA369852921 | KCNH2 | n.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 |
7 | g.150947467G= | CA1752429375 | KCNH2 | n.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=) | |
7 | g.150947467G>T | CA458644936 | KCNH2 | n.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 |
7 | g.150947468A>C | CA369852922 | KCNH2 | n.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) | |
7 | g.150947468A>G | CA458644937 | KCNH2 | n.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=) | |
7 | g.150947468A>T | CA369852923 | KCNH2 | n.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) | |
7 | g.150947469C>A | CA036300 | KCNH2 | n.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 |
7 | g.150947469C= | CA1752429380 | KCNH2 | n.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=) | |
7 | g.150947469C>G | CA036284 | KCNH2 | n.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 |
7 | g.150947469C>T | CA369852924 | KCNH2 | n.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) | |
7 | g.150947470T>A | CA369852925 | KCNH2 | n.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) | |
7 | g.150947470T>C | CA369852927 | KCNH2 | n.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) | |
7 | g.150947470T>G | CA369852926 | KCNH2 | n.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) | |
7 | g.150947471G>A | CA458644939 | KCNH2 | n.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 |
7 | g.150947471G>C | CA369852928 | KCNH2 | n.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) | |
7 | g.150947471G= | CA1752429383 | KCNH2 | n.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=) | |
7 | g.150947471G>T | CA369852929 | KCNH2 | n.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 |
7 | g.150947472T>A | CA369852930 | KCNH2 | n.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 |
7 | g.150947472T>C | CA369852931 | KCNH2 | n.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 |
7 | g.150947472T>G | CA369852932 | KCNH2 | n.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) | |
7 | g.150947472_150947473delinsTC | CA1752429388 | KCNH2 | n.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=) | |
7 | g.150947473C>A | CA007791 | KCNH2 | n.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 |
7 | g.150947473C= | CA1752429398 | KCNH2 | n.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=) | |
7 | g.150947473C>G | CA369852933 | KCNH2 | n.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 |
7 | g.150947473C>T | CA16042691 | KCNH2 | n.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 |
7 | g.150947478dup | CA916080376 | KCNH2 | n.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 |
7 | g.150947478del | CA645565631 | KCNH2 | n.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 |
7 | g.150947474C>A | CA458644940 | KCNH2 | n.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 |
7 | g.150947474C= | CA1752429405 | KCNH2 | n.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=) | |
7 | g.150947474C>G | CA458644941 | KCNH2 | n.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=) | |
7 | g.150947474C>T | CA458644942 | KCNH2 | n.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 |
7 | g.150947475C>A | CA369852934 | KCNH2 | n.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 |
7 | g.150947475C= | CA1752429410 | KCNH2 | n.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=) | |
7 | g.150947475C>G | CA369852935 | KCNH2 | n.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) | |
7 | g.150947475C>T | CA369852936 | KCNH2 | n.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 |
7 | g.150947476C>A | CA369852939 | KCNH2 | n.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 |
7 | g.150947476C= | CA1752429412 | KCNH2 | n.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=) | |
7 | g.150947476C>G | CA369852938 | KCNH2 | n.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 |
7 | g.150947476C>T | CA369852937 | KCNH2 | n.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 |
7 | g.150947477C>A | CA369852940 | KCNH2 | n.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 |
7 | g.150947477C= | CA1752429416 | KCNH2 | n.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=) | |
7 | g.150947477C>G | CA369852941 | KCNH2 | n.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 |
7 | g.150947477C>T | CA007783 | KCNH2 | n.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 |
7 | g.150947478C>A | CA369852942 | KCNH2 | n.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 |
7 | g.150947478C= | CA1752429427 | KCNH2 | n.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=) | |
7 | g.150947478C>G | CA369852943 | KCNH2 | n.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 |
7 | g.150947478C>T | CA007773 | KCNH2 | n.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 |
7 | g.150947479A>C | CA369852944 | KCNH2 | n.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 |
7 | g.150947479A>G | CA369852945 | KCNH2 | n.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 |
7 | g.150947479A>T | CA369852946 | KCNH2 | n.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 |
7 | g.150947479dup | CA2695208798 | KCNH2 | n.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?) | |
7 | g.150947480G>A | CA458644946 | KCNH2 | n.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=) | |
7 | g.150947480G>C | CA369852947 | KCNH2 | n.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) | |
7 | g.150947480G>T | CA369852948 | KCNH2 | n.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 |
7 | g.150947481A>C | CA369852949 | KCNH2 | n.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) | |
7 | g.150947481A>G | CA369852950 | KCNH2 | n.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) | |
7 | g.150947481A>T | CA369852951 | KCNH2 | n.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) | |
7 | g.150947482A>C | CA369852954 | KCNH2 | n.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) | |
7 | g.150947482A>G | CA369852953 | KCNH2 | n.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) | |
7 | g.150947482A>T | CA369852952 | KCNH2 | n.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) | |
7 | g.150947483G>A | CA458644949 | KCNH2 | n.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 |
7 | g.150947483G>C | CA369852955 | KCNH2 | n.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) | |
7 | g.150947483G= | CA1752429431 | KCNH2 | n.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=) | |
7 | g.150947483G>T | CA369852956 | KCNH2 | n.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 |
7 | g.150947484C>A | CA369852957 | KCNH2 | n.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 |
7 | g.150947484C= | CA1752429435 | KCNH2 | n.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=) | |
7 | g.150947484C>G | CA169072139 | KCNH2 | n.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 |
7 | g.150947484C>T | CA369852958 | KCNH2 | n.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 |
7 | g.150947485T>A | CA369852959 | KCNH2 | n.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 |
7 | g.150947485T>C | CA369852960 | KCNH2 | n.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 |
7 | g.150947485T>G | CA369852961 | KCNH2 | n.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) | |
7 | g.150947485dup | CA579075366 | KCNH2 | n.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 |
7 | g.150947486G>A | CA007756 | KCNH2 | n.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 |
7 | g.150947486G>C | CA369852962 | KCNH2 | n.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) | |
7 | g.150947486G= | CA1752429444 | KCNH2 | n.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=) | |
7 | g.150947486G>T | CA369852963 | KCNH2 | n.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 |
7 | g.150947487A>C | CA369852966 | KCNH2 | n.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) | |
7 | g.150947487A>G | CA369852965 | KCNH2 | n.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) | |
7 | g.150947487A>T | CA369852964 | KCNH2 | n.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) | |
7 | g.150947490del | CA2685602035 | KCNH2 | n.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 |
7 | g.150947488A>C | CA369852967 | KCNH2 | n.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 |
7 | g.150947488A>G | CA369852968 | KCNH2 | n.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) | |
7 | g.150947488A>T | CA369852969 | KCNH2 | n.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) | |
7 | g.150947489A>C | CA369852970 | KCNH2 | n.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) | |
7 | g.150947489A>G | CA458644951 | KCNH2 | n.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 |
7 | g.150947489A>T | CA458644950 | KCNH2 | n.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 |
7 | g.150947490A>C | CA369852971 | KCNH2 | n.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) | |
7 | g.150947490A>G | CA369852972 | KCNH2 | n.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) | |
7 | g.150947490A>T | CA369852973 | KCNH2 | n.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) | |
7 | g.150947491T>A | CA369852974 | KCNH2 | n.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) | |
7 | g.150947491T>C | CA369852975 | KCNH2 | n.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 |
7 | g.150947491T>G | CA369852976 | KCNH2 | n.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) | |
7 | g.150947491T= | CA1752429452 | KCNH2 | n.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=) | |
7 | g.150947492G>A | CA036219 | KCNH2 | n.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 |
7 | g.150947492G>C | CA369852977 | KCNH2 | n.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) | |
7 | g.150947492G= | CA1752429457 | KCNH2 | n.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=) | |
7 | g.150947492G>T | CA369852978 | KCNH2 | n.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 |
7 | g.150947493T>A | CA007728 | KCNH2 | n.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 |
7 | g.150947493T>C | CA369852979 | KCNH2 | n.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 |
7 | g.150947493T>G | CA369852980 | KCNH2 | n.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) | |
7 | g.150947493T= | CA1752429460 | KCNH2 | n.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=) | |
7 | g.150947494T>A | CA369852981 | KCNH2 | n.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) | |
7 | g.150947494T>C | CA369852982 | KCNH2 | n.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 |
7 | g.150947494T>G | CA369852983 | KCNH2 | n.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) | |
7 | g.150947495G>A | CA458644952 | KCNH2 | n.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 |
7 | g.150947495G>C | CA458644953 | KCNH2 | n.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 |
7 | g.150947495G= | CA1752429466 | KCNH2 | n.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=) | |
7 | g.150947495G>T | CA458644954 | KCNH2 | n.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 |
7 | g.150947496G>A | CA369852984 | KCNH2 | n.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) | |
7 | g.150947496G>C | CA369852985 | KCNH2 | n.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) | |
7 | g.150947496G>T | CA369852986 | KCNH2 | n.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 |
7 | g.150947497A>C | CA369852987 | KCNH2 | n.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) | |
7 | g.150947497A>G | CA369852988 | KCNH2 | n.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 |
7 | g.150947497A>T | CA369852989 | KCNH2 | n.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) | |
7 | g.150947498C>A | CA458644955 | KCNH2 | n.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 |
7 | g.150947498C= | CA1752429468 | KCNH2 | n.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=) | |
7 | g.150947498C>G | CA458644956 | KCNH2 | n.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=) | |
7 | g.150947498C>T | CA458644957 | KCNH2 | n.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 |
7 | g.150947499A>C | CA369852990 | KCNH2 | n.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 |
7 | g.150947499A>G | CA369852991 | KCNH2 | n.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 |
7 | g.150947499A>T | CA369852992 | KCNH2 | n.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) | |
7 | g.150947500C>A | CA369852994 | KCNH2 | n.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 |
7 | g.150947500C>G | CA369852995 | KCNH2 | n.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) | |
7 | g.150947500C>T | CA369852993 | KCNH2 | n.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 |
7 | g.150947501T>A | CA458644958 | KCNH2 | n.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 |
7 | g.150947501T>C | CA458644959 | KCNH2 | n.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=) | |
7 | g.150947501T>G | CA458644960 | KCNH2 | n.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 |
7 | g.150947502C>A | CA369852997 | KCNH2 | n.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 |
7 | g.150947502C>G | CA369852996 | KCNH2 | n.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) | |
7 | g.150947502C>T | CA369852998 | KCNH2 | n.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) | |
7 | g.150947503C>A | CA369852999 | KCNH2 | n.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 |
7 | g.150947503C= | CA1752429470 | KCNH2 | n.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=) | |
7 | g.150947503C>G | CA369853000 | KCNH2 | n.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) | |
7 | g.150947503C>T | CA369853001 | KCNH2 | n.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) | |
7 | g.150947504T>A | CA458644961 | KCNH2 | n.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 |
7 | g.150947504T>C | CA458644962 | KCNH2 | n.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 |
7 | g.150947504T>G | CA458644963 | KCNH2 | n.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=) | |
7 | g.150947505G>A | CA369853002 | KCNH2 | n.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 |
7 | g.150947505G>C | CA369853003 | KCNH2 | n.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) | |
7 | g.150947505G>T | CA369853004 | KCNH2 | n.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 |
7 | g.150947506A>C | CA369853005 | KCNH2 | n.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 |
7 | g.150947506A>G | CA369853006 | KCNH2 | n.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) | |
7 | g.150947506A>T | CA369853007 | KCNH2 | n.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) | |
7 | g.150947507G>A | CA458644964 | KCNH2 | n.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=) | |
7 | g.150947507G>C | CA369853008 | KCNH2 | n.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 |
7 | g.150947507G>T | CA369853009 | KCNH2 | n.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) | |
7 | g.150947508A>C | CA369853012 | KCNH2 | n.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) | |
7 | g.150947508A>G | CA369853011 | KCNH2 | n.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 |
7 | g.150947508A>T | CA369853010 | KCNH2 | n.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) | |
7 | g.150947509A>C | CA369853013 | KCNH2 | n.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) | |
7 | g.150947509A>G | CA369853014 | KCNH2 | n.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 |
7 | g.150947509A>T | CA369853015 | KCNH2 | n.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 |
7 | g.150947510G>A | CA458644965 | KCNH2 | n.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 |
7 | g.150947510G>C | CA458644967 | KCNH2 | n.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=) | |
7 | g.150947510G= | CA1752429473 | KCNH2 | n.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=) | |
7 | g.150947510G>T | CA458644966 | KCNH2 | n.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=) | |
7 | g.150947511G>A | CA369853016 | KCNH2 | n.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) | |
7 | g.150947511G>C | CA369853017 | KCNH2 | n.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) | |
7 | g.150947511G>T | CA369853018 | KCNH2 | n.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) | |
7 | g.150947512C>A | CA369853019 | KCNH2 | n.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 |
7 | g.150947512C= | CA1752429478 | KCNH2 | n.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=) | |
7 | g.150947512C>G | CA369853020 | KCNH2 | n.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) | |
7 | g.150947512C>T | CA036209 | KCNH2 | n.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 |
7 | g.150947513G>A | CA036200 | KCNH2 | n.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 |
7 | g.150947513G>C | CA458644968 | KCNH2 | n.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=) | |
7 | g.150947513G= | CA1752429492 | KCNH2 | n.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=) | |
7 | g.150947513G>T | CA16612105 | KCNH2 | n.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 |
7 | g.150947515_150947518dup | CA305334 | KCNH2 | n.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 |
7 | g.150947514C>A | CA369853022 | KCNH2 | n.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 |
7 | g.150947514C= | CA1752429501 | KCNH2 | n.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=) | |
7 | g.150947514C>G | CA369853023 | KCNH2 | n.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) | |
7 | g.150947514C>T | CA369853021 | KCNH2 | n.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 |
7 | g.150947665_150947666insGGGCTGGAGAGGGGGATGTTGAGGAGGCTGGGGGTGGGGGCGGGGCATCGAGGGAGCTCCTGGTACTGGCGGCCCCGACTGTCCCCCCAGAAGCTGAAAATGTTGGACACTCCTGAGAAGGCGCCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGCAGCCAGAGAGCAGAGCTGGGTGAGCGGGGTAGACGCACCACCGCTGCCACGCCCGGTCCTCCCTCGCCCGCCCGTCGCCCGGGATACCTGACAGGGGGTTGCAAGTGTCGCTGCTCTTCTCGCAGTCCTCCATCAGGGGCTCCCCAC | CA916080377 | KCNH2 | n.3799_3800insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG c.2966_2967insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG c.1946_1947insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG c.2666_2667insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG c.*46_*47insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG c.2816_2817insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG c.2789_2790insTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGGCGCCTTCTCAGGAGTGTCCAACATTTTCAGCTTCTGGGGGGACAGTCGGGGCCGCCAGTACCAGGAGCTCCCTCGATGCCCCGCCCCCACCCCCAGCCTCCTCAACATCCCCCTCTCCAGCCCGTGGGGAGCCCCTGATGGAGGACTGCGAGAAGAGCAGCGACACTTGCAACCCCCTGTCAGGTATCCCGGGCGACGGGCGGGCGAGGGAGGACCGGGCGTGGCAGCGGTGGTGCGTCTACCCCGCTCACCCAGCTCTGCTCTCTGGCTGCAGG | |
7 | g.150947515C>A | CA369853024 | KCNH2 | n.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 |
7 | g.150947515C>G | CA369853025 | KCNH2 | n.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 |
7 | g.150947515C>T | CA369853026 | KCNH2 | n.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) | |
7 | g.150947516T>A | CA369853027 | KCNH2 | n.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) | |
7 | g.150947516T>C | CA369853028 | KCNH2 | n.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) | |
7 | g.150947516T>G | CA369853029 | KCNH2 | n.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) | |
7 | g.150947517G>A | CA2685602067 | KCNH2 | n.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 |
7 | g.150947517G>C | CA1139660331 | KCNH2 | n.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 |
7 | g.150947517G= | CA1752429504 | KCNH2 | n.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=) | |
7 | g.150947518C>A | CA579075367 | KCNH2 | n.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 |
7 | g.150947518C= | CA1752429508 | KCNH2 | n.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=) | |
7 | g.150947518C>T | CA913188234 | KCNH2 | n.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 |
7 | g.150947519A>G | CA2499218786 | KCNH2 | n.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 |
7 | g.150947519A>T | CA2685602070 | KCNH2 | n.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 |
7 | g.150947520G>A | CA036187 | KCNH2 | n.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 |
7 | g.150947520G>C | CA169072189 | KCNH2 | n.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 |
7 | g.150947520G= | CA1752429511 | KCNH2 | n.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=) | |
7 | g.150947522C>A | CA1139660332 | KCNH2 | n.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 |
7 | g.150947522C= | CA1752429516 | KCNH2 | n.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=) | |
7 | g.150947522C>T | CA579075368 | KCNH2 | n.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 |
7 | g.150947522_150947524delinsCAG | CA1752429515 | KCNH2 | n.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) | |
7 | g.150947523A= | CA1752429520 | KCNH2 | n.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=) | |
7 | g.150947523A>G | CA1752429521 | KCNH2 | n.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 |
7 | g.150947527_150947528del | CA1139660333 | KCNH2 | n.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 |
7 | g.150947524G>T | CA2685602074 | KCNH2 | n.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 |
7 | g.150947525A>C | CA2685602076 | KCNH2 | n.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 |
7 | g.150947525A>G | CA2685602077 | KCNH2 | n.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 |