WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.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.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_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.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 |