| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.150948944_150948980del | CA645565632 | KCNH2 | n.3303_3339del c.2470_2506del (p.Ala824ThrfsTer?) c.1450_1486del (p.Ala484ThrfsTer?) c.2170_2206del (p.Ala724ThrfsTer?) c.2320_2356del (p.Ala774ThrfsTer?) c.2293_2329del (p.Ala765ThrfsTer?) | COSMIC COSMIC |
| 7 | g.150948964_150949161del | CA2573141856 | KCNH2 | n.3232-108_3321del c.2399-108_2488del c.1379-108_1468del c.2099-108_2188del c.2249-108_2338del c.2222-108_2311del | ClinVar dbSNP |
| 7 | g.150948975_150948983dup | CA1139660303 | KCNH2 | n.3299_3307dup c.2466_2474dup (p.Leu825_Thr826insArgAlaLeu) c.1446_1454dup (p.Leu485_Thr486insArgAlaLeu) c.2166_2174dup (p.Leu725_Thr726insArgAlaLeu) c.2316_2324dup (p.Leu775_Thr776insArgAlaLeu) c.2289_2297dup (p.Leu766_Thr767insArgAlaLeu) | ClinVar dbSNP |
| 7 | g.150948980dup | CA2695208827 | KCNH2 | n.3303dup c.2470dup (p.Ala824GlyfsTer6) c.1450dup (p.Ala484GlyfsTer6) c.2170dup (p.Ala724GlyfsTer6) c.2320dup (p.Ala774GlyfsTer6) c.2293dup (p.Ala765GlyfsTer6) | |
| 7 | g.150948980del | CA16618402 | KCNH2 | n.3303del c.2470del (p.Ala824ProfsTer?) c.1450del (p.Ala484ProfsTer?) c.2170del (p.Ala724ProfsTer?) c.2320del (p.Ala774ProfsTer?) c.2293del (p.Ala765ProfsTer?) | ClinVar dbSNP |
| 7 | g.150948980C>A | CA369855170 | KCNH2 | n.3301G>T c.2468G>T (p.Arg823Leu) c.1448G>T (p.Arg483Leu) c.2168G>T (p.Arg723Leu) c.2318G>T (p.Arg773Leu) c.2291G>T (p.Arg764Leu) | ClinVar gnomAD v4 |
| 7 | g.150948980C= | CA1752432004 | KCNH2 | n.3301G= c.2468G= (p.Arg823=) c.1448G= (p.Arg483=) c.2168G= (p.Arg723=) c.2318G= (p.Arg773=) c.2291G= (p.Arg764=) | |
| 7 | g.150948980C>G | CA369855171 | KCNH2 | n.3301G>C c.2468G>C (p.Arg823Pro) c.1448G>C (p.Arg483Pro) c.2168G>C (p.Arg723Pro) c.2318G>C (p.Arg773Pro) c.2291G>C (p.Arg764Pro) | ClinVar dbSNP |
| 7 | g.150948980C>T | CA16618403 | KCNH2 | n.3301G>A c.2468G>A (p.Arg823Gln) c.1448G>A (p.Arg483Gln) c.2168G>A (p.Arg723Gln) c.2318G>A (p.Arg773Gln) c.2291G>A (p.Arg764Gln) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150948981G>A | CA006812 | KCNH2 | n.3300C>T c.2467C>T (p.Arg823Trp) c.1447C>T (p.Arg483Trp) c.2167C>T (p.Arg723Trp) c.2317C>T (p.Arg773Trp) c.2290C>T (p.Arg764Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150948981G>C | CA369855174 | KCNH2 | n.3300C>G c.2467C>G (p.Arg823Gly) c.1447C>G (p.Arg483Gly) c.2167C>G (p.Arg723Gly) c.2317C>G (p.Arg773Gly) c.2290C>G (p.Arg764Gly) | |
| 7 | g.150948981G= | CA1752432008 | KCNH2 | n.3300C= c.2467C= (p.Arg823=) c.1447C= (p.Arg483=) c.2167C= (p.Arg723=) c.2317C= (p.Arg773=) c.2290C= (p.Arg764=) | |
| 7 | g.150948981G>T | CA458645185 | KCNH2 | n.3300C>A c.2467C>A (p.Arg823=) c.1447C>A (p.Arg483=) c.2167C>A (p.Arg723=) c.2317C>A (p.Arg773=) c.2290C>A (p.Arg764=) | |
| 7 | g.150948982C>A | CA458645186 | KCNH2 | n.3299G>T c.2466G>T (p.Val822=) c.1446G>T (p.Val482=) c.2166G>T (p.Val722=) c.2316G>T (p.Val772=) c.2289G>T (p.Val763=) | |
| 7 | g.150948982C= | CA1752432013 | KCNH2 | n.3299G= c.2466G= (p.Val822=) c.1446G= (p.Val482=) c.2166G= (p.Val722=) c.2316G= (p.Val772=) c.2289G= (p.Val763=) | |
| 7 | g.150948982C>G | CA032868 | KCNH2 | n.3299G>C c.2466G>C (p.Val822=) c.1446G>C (p.Val482=) c.2166G>C (p.Val722=) c.2316G>C (p.Val772=) c.2289G>C (p.Val763=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150948982C>T | CA458645187 | KCNH2 | n.3299G>A c.2466G>A (p.Val822=) c.1446G>A (p.Val482=) c.2166G>A (p.Val722=) c.2316G>A (p.Val772=) c.2289G>A (p.Val763=) | |
| 7 | g.150948983A>C | CA369855181 | KCNH2 | n.3298T>G c.2465T>G (p.Val822Gly) c.1445T>G (p.Val482Gly) c.2165T>G (p.Val722Gly) c.2315T>G (p.Val772Gly) c.2288T>G (p.Val763Gly) | |
| 7 | g.150948983A>G | CA369855178 | KCNH2 | n.3298T>C c.2465T>C (p.Val822Ala) c.1445T>C (p.Val482Ala) c.2165T>C (p.Val722Ala) c.2315T>C (p.Val772Ala) c.2288T>C (p.Val763Ala) | ClinVar |
| 7 | g.150948983A>T | CA369855179 | KCNH2 | n.3298T>A c.2465T>A (p.Val822Glu) c.1445T>A (p.Val482Glu) c.2165T>A (p.Val722Glu) c.2315T>A (p.Val772Glu) c.2288T>A (p.Val763Glu) | |
| 7 | g.150948983_150948986delinsCCCTC | CA2695208828 | KCNH2 | n.3295_3298delinsGAGGG c.2462_2465delinsGAGGG (p.Asp821GlyfsTer9) c.1442_1445delinsGAGGG (p.Asp481GlyfsTer9) c.2162_2165delinsGAGGG (p.Asp721GlyfsTer9) c.2312_2315delinsGAGGG (p.Asp771GlyfsTer9) c.2285_2288delinsGAGGG (p.Asp762GlyfsTer9) | |
| 7 | g.150948983_150948984insT | CA2502903432 | KCNH2 | n.3297_3298insA c.2464_2465insA (p.Val822AspfsTer8) c.1444_1445insA (p.Val482AspfsTer8) c.2164_2165insA (p.Val722AspfsTer8) c.2314_2315insA (p.Val772AspfsTer8) c.2287_2288insA (p.Val763AspfsTer8) | |
| 7 | g.150948984C>A | CA369855183 | KCNH2 | n.3297G>T c.2464G>T (p.Val822Leu) c.1444G>T (p.Val482Leu) c.2164G>T (p.Val722Leu) c.2314G>T (p.Val772Leu) c.2287G>T (p.Val763Leu) | |
| 7 | g.150948984C= | CA1752432020 | KCNH2 | n.3297G= c.2464G= (p.Val822=) c.1444G= (p.Val482=) c.2164G= (p.Val722=) c.2314G= (p.Val772=) c.2287G= (p.Val763=) | |
| 7 | g.150948984C>G | CA006804 | KCNH2 | n.3297G>C c.2464G>C (p.Val822Leu) c.1444G>C (p.Val482Leu) c.2164G>C (p.Val722Leu) c.2314G>C (p.Val772Leu) c.2287G>C (p.Val763Leu) | ClinVar dbSNP |
| 7 | g.150948984C>T | CA006796 | KCNH2 | n.3297G>A c.2464G>A (p.Val822Met) c.1444G>A (p.Val482Met) c.2164G>A (p.Val722Met) c.2314G>A (p.Val772Met) c.2287G>A (p.Val763Met) | ClinVar dbSNP |
| 7 | g.150948985A= | CA1752432021 | KCNH2 | n.3296T= c.2463T= (p.Asp821=) c.1443T= (p.Asp481=) c.2163T= (p.Asp721=) c.2313T= (p.Asp771=) c.2286T= (p.Asp762=) | |
| 7 | g.150948985A>C | CA369855187 | KCNH2 | n.3296T>G c.2463T>G (p.Asp821Glu) c.1443T>G (p.Asp481Glu) c.2163T>G (p.Asp721Glu) c.2313T>G (p.Asp771Glu) c.2286T>G (p.Asp762Glu) | |
| 7 | g.150948985A>G | CA458645188 | KCNH2 | n.3296T>C c.2463T>C (p.Asp821=) c.1443T>C (p.Asp481=) c.2163T>C (p.Asp721=) c.2313T>C (p.Asp771=) c.2286T>C (p.Asp762=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150948985A>T | CA369855189 | KCNH2 | n.3296T>A c.2463T>A (p.Asp821Glu) c.1443T>A (p.Asp481Glu) c.2163T>A (p.Asp721Glu) c.2313T>A (p.Asp771Glu) c.2286T>A (p.Asp762Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150948986T>A | CA369855191 | KCNH2 | n.3295A>T c.2462A>T (p.Asp821Val) c.1442A>T (p.Asp481Val) c.2162A>T (p.Asp721Val) c.2312A>T (p.Asp771Val) c.2285A>T (p.Asp762Val) | ClinVar dbSNP |
| 7 | g.150948986T>C | CA369855193 | KCNH2 | n.3295A>G c.2462A>G (p.Asp821Gly) c.1442A>G (p.Asp481Gly) c.2162A>G (p.Asp721Gly) c.2312A>G (p.Asp771Gly) c.2285A>G (p.Asp762Gly) | |
| 7 | g.150948986T>G | CA369855192 | KCNH2 | n.3295A>C c.2462A>C (p.Asp821Ala) c.1442A>C (p.Asp481Ala) c.2162A>C (p.Asp721Ala) c.2312A>C (p.Asp771Ala) c.2285A>C (p.Asp762Ala) | |
| 7 | g.150948987C>A | CA369855196 | KCNH2 | n.3294G>T c.2461G>T (p.Asp821Tyr) c.1441G>T (p.Asp481Tyr) c.2161G>T (p.Asp721Tyr) c.2311G>T (p.Asp771Tyr) c.2284G>T (p.Asp762Tyr) | |
| 7 | g.150948987C>G | CA369855198 | KCNH2 | n.3294G>C c.2461G>C (p.Asp821His) c.1441G>C (p.Asp481His) c.2161G>C (p.Asp721His) c.2311G>C (p.Asp771His) c.2284G>C (p.Asp762His) | |
| 7 | g.150948987C>T | CA369855199 | KCNH2 | n.3294G>A c.2461G>A (p.Asp821Asn) c.1441G>A (p.Asp481Asn) c.2161G>A (p.Asp721Asn) c.2311G>A (p.Asp771Asn) c.2284G>A (p.Asp762Asn) | |
| 7 | g.150948988_150948990del | CA2561770020 | KCNH2 | n.3292_3294del c.2459_2461del (p.Gly820del) c.1439_1441del (p.Gly480del) c.2159_2161del (p.Gly720del) c.2309_2311del (p.Gly770del) c.2282_2284del (p.Gly761del) | |
| 7 | g.150948988C>A | CA458645189 | KCNH2 | n.3293G>T c.2460G>T (p.Gly820=) c.1440G>T (p.Gly480=) c.2160G>T (p.Gly720=) c.2310G>T (p.Gly770=) c.2283G>T (p.Gly761=) | |
| 7 | g.150948988C>G | CA458645190 | KCNH2 | n.3293G>C c.2460G>C (p.Gly820=) c.1440G>C (p.Gly480=) c.2160G>C (p.Gly720=) c.2310G>C (p.Gly770=) c.2283G>C (p.Gly761=) | gnomAD v4 |
| 7 | g.150948988C>T | CA458645191 | KCNH2 | n.3293G>A c.2460G>A (p.Gly820=) c.1440G>A (p.Gly480=) c.2160G>A (p.Gly720=) c.2310G>A (p.Gly770=) c.2283G>A (p.Gly761=) | dbSNP |
| 7 | g.150948989C>A | CA369855201 | KCNH2 | n.3292G>T c.2459G>T (p.Gly820Val) c.1439G>T (p.Gly480Val) c.2159G>T (p.Gly720Val) c.2309G>T (p.Gly770Val) c.2282G>T (p.Gly761Val) | |
| 7 | g.150948989C>G | CA369855203 | KCNH2 | n.3292G>C c.2459G>C (p.Gly820Ala) c.1439G>C (p.Gly480Ala) c.2159G>C (p.Gly720Ala) c.2309G>C (p.Gly770Ala) c.2282G>C (p.Gly761Ala) | |
| 7 | g.150948989C>T | CA369855205 | KCNH2 | n.3292G>A c.2459G>A (p.Gly820Glu) c.1439G>A (p.Gly480Glu) c.2159G>A (p.Gly720Glu) c.2309G>A (p.Gly770Glu) c.2282G>A (p.Gly761Glu) | ClinVar gnomAD v4 |
| 7 | g.150948989_150948990insTAAAAAA | CA2567851703 | KCNH2 | n.3291_3292insTTTTTTA c.2458_2459insTTTTTTA (p.Gly820ValfsTer3) c.1438_1439insTTTTTTA (p.Gly480ValfsTer3) c.2158_2159insTTTTTTA (p.Gly720ValfsTer3) c.2308_2309insTTTTTTA (p.Gly770ValfsTer3) c.2281_2282insTTTTTTA (p.Gly761ValfsTer3) | |
| 7 | g.150948989_150948990insAGGCCCTTGCATACA | CA2573141857 | KCNH2 | n.3291_3292insTGTATGCAAGGGCCT c.2458_2459insTGTATGCAAGGGCCT (p.Gly820delinsValTyrAlaArgAlaTrp) c.1438_1439insTGTATGCAAGGGCCT (p.Gly480delinsValTyrAlaArgAlaTrp) c.2158_2159insTGTATGCAAGGGCCT (p.Gly720delinsValTyrAlaArgAlaTrp) c.2308_2309insTGTATGCAAGGGCCT (p.Gly770delinsValTyrAlaArgAlaTrp) c.2281_2282insTGTATGCAAGGGCCT (p.Gly761delinsValTyrAlaArgAlaTrp) | ClinVar dbSNP |
| 7 | g.150948990C>A | CA369855207 | KCNH2 | n.3291G>T c.2458G>T (p.Gly820Trp) c.1438G>T (p.Gly480Trp) c.2158G>T (p.Gly720Trp) c.2308G>T (p.Gly770Trp) c.2281G>T (p.Gly761Trp) | |
| 7 | g.150948990C= | CA1752432024 | KCNH2 | n.3291G= c.2458G= (p.Gly820=) c.1438G= (p.Gly480=) c.2158G= (p.Gly720=) c.2308G= (p.Gly770=) c.2281G= (p.Gly761=) | |
| 7 | g.150948990C>G | CA369855209 | KCNH2 | n.3291G>C c.2458G>C (p.Gly820Arg) c.1438G>C (p.Gly480Arg) c.2158G>C (p.Gly720Arg) c.2308G>C (p.Gly770Arg) c.2281G>C (p.Gly761Arg) | ClinVar |
| 7 | g.150948990C>T | CA006787 | KCNH2 | n.3291G>A c.2458G>A (p.Gly820Arg) c.1438G>A (p.Gly480Arg) c.2158G>A (p.Gly720Arg) c.2308G>A (p.Gly770Arg) c.2281G>A (p.Gly761Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |