| 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.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.150948995G>A | CA006763 | KCNH2 | n.3286C>T c.2453C>T (p.Ser818Leu) c.1433C>T (p.Ser478Leu) c.2153C>T (p.Ser718Leu) c.2303C>T (p.Ser768Leu) c.2276C>T (p.Ser759Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150948995G>C | CA369855233 | KCNH2 | n.3286C>G c.2453C>G (p.Ser818Trp) c.1433C>G (p.Ser478Trp) c.2153C>G (p.Ser718Trp) c.2303C>G (p.Ser768Trp) c.2276C>G (p.Ser759Trp) | COSMIC |
| 7 | g.150948995G= | CA1752432041 | KCNH2 | n.3286C= c.2453C= (p.Ser818=) c.1433C= (p.Ser478=) c.2153C= (p.Ser718=) c.2303C= (p.Ser768=) c.2276C= (p.Ser759=) | |
| 7 | g.150948995G>T | CA369855235 | KCNH2 | n.3286C>A c.2453C>A (p.Ser818Ter) c.1433C>A (p.Ser478Ter) c.2153C>A (p.Ser718Ter) c.2303C>A (p.Ser768Ter) c.2276C>A (p.Ser759Ter) | |
| 7 | g.150948996A= | CA1752432044 | KCNH2 | n.3285T= c.2452T= (p.Ser818=) c.1432T= (p.Ser478=) c.2152T= (p.Ser718=) c.2302T= (p.Ser768=) c.2275T= (p.Ser759=) | |
| 7 | g.150948996A>C | CA369855238 | KCNH2 | n.3285T>G c.2452T>G (p.Ser818Ala) c.1432T>G (p.Ser478Ala) c.2152T>G (p.Ser718Ala) c.2302T>G (p.Ser768Ala) c.2275T>G (p.Ser759Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150948996A>G | CA006757 | KCNH2 | n.3285T>C c.2452T>C (p.Ser818Pro) c.1432T>C (p.Ser478Pro) c.2152T>C (p.Ser718Pro) c.2302T>C (p.Ser768Pro) c.2275T>C (p.Ser759Pro) | ClinVar dbSNP |
| 7 | g.150948996A>T | CA369855240 | KCNH2 | n.3285T>A c.2452T>A (p.Ser818Thr) c.1432T>A (p.Ser478Thr) c.2152T>A (p.Ser718Thr) c.2302T>A (p.Ser768Thr) c.2275T>A (p.Ser759Thr) | |
| 7 | g.150948996_150949006delinsACTTGCCAGGC | CA1752432047 | KCNH2 | n.3275_3285delinsGCCTGGCAAGT c.2442_2452delinsGCCTGGCAAGT (p.Arg814=) c.1422_1432delinsGCCTGGCAAGT (p.Arg474=) c.2142_2152delinsGCCTGGCAAGT (p.Arg714=) c.2292_2302delinsGCCTGGCAAGT (p.Arg764=) c.2265_2275delinsGCCTGGCAAGT (p.Arg755=) | |
| 7 | g.150948997C>A | CA369855243 | KCNH2 | n.3284G>T c.2451G>T (p.Lys817Asn) c.1431G>T (p.Lys477Asn) c.2151G>T (p.Lys717Asn) c.2301G>T (p.Lys767Asn) c.2274G>T (p.Lys758Asn) | |
| 7 | g.150948997C>G | CA369855245 | KCNH2 | n.3284G>C c.2451G>C (p.Lys817Asn) c.1431G>C (p.Lys477Asn) c.2151G>C (p.Lys717Asn) c.2301G>C (p.Lys767Asn) c.2274G>C (p.Lys758Asn) | |
| 7 | g.150948997C>T | CA458645192 | KCNH2 | n.3284G>A c.2451G>A (p.Lys817=) c.1431G>A (p.Lys477=) c.2151G>A (p.Lys717=) c.2301G>A (p.Lys767=) c.2274G>A (p.Lys758=) | |
| 7 | g.150949002_150949011del | CA658797040 | KCNH2 | n.3275_3284del c.2442_2451del (p.Arg814SerfsTer?) c.1422_1431del (p.Arg474SerfsTer?) c.2142_2151del (p.Arg714SerfsTer?) c.2292_2301del (p.Arg764SerfsTer?) c.2265_2274del (p.Arg755SerfsTer?) | ClinVar dbSNP |
| 7 | g.150948998T>A | CA369855251 | KCNH2 | n.3283A>T c.2450A>T (p.Lys817Met) c.1430A>T (p.Lys477Met) c.2150A>T (p.Lys717Met) c.2300A>T (p.Lys767Met) c.2273A>T (p.Lys758Met) | |
| 7 | g.150948998T>C | CA369855247 | KCNH2 | n.3283A>G c.2450A>G (p.Lys817Arg) c.1430A>G (p.Lys477Arg) c.2150A>G (p.Lys717Arg) c.2300A>G (p.Lys767Arg) c.2273A>G (p.Lys758Arg) | COSMIC COSMIC |
| 7 | g.150948998T>G | CA369855249 | KCNH2 | n.3283A>C c.2450A>C (p.Lys817Thr) c.1430A>C (p.Lys477Thr) c.2150A>C (p.Lys717Thr) c.2300A>C (p.Lys767Thr) c.2273A>C (p.Lys758Thr) | |
| 7 | g.150948999T>A | CA369855253 | KCNH2 | n.3282A>T c.2449A>T (p.Lys817Ter) c.1429A>T (p.Lys477Ter) c.2149A>T (p.Lys717Ter) c.2299A>T (p.Lys767Ter) c.2272A>T (p.Lys758Ter) | |
| 7 | g.150948999T>C | CA369855254 | KCNH2 | n.3282A>G c.2449A>G (p.Lys817Glu) c.1429A>G (p.Lys477Glu) c.2149A>G (p.Lys717Glu) c.2299A>G (p.Lys767Glu) c.2272A>G (p.Lys758Glu) | |
| 7 | g.150948999T>G | CA369855255 | KCNH2 | n.3282A>C c.2449A>C (p.Lys817Gln) c.1429A>C (p.Lys477Gln) c.2149A>C (p.Lys717Gln) c.2299A>C (p.Lys767Gln) c.2272A>C (p.Lys758Gln) | |
| 7 | g.150949000G>A | CA458645193 | KCNH2 | n.3281C>T c.2448C>T (p.Gly816=) c.1428C>T (p.Gly476=) c.2148C>T (p.Gly716=) c.2298C>T (p.Gly766=) c.2271C>T (p.Gly757=) | |
| 7 | g.150949000G>C | CA169074886 | KCNH2 | n.3281C>G c.2448C>G (p.Gly816=) c.1428C>G (p.Gly476=) c.2148C>G (p.Gly716=) c.2298C>G (p.Gly766=) c.2271C>G (p.Gly757=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150949000G= | CA1752432052 | KCNH2 | n.3281C= c.2448C= (p.Gly816=) c.1428C= (p.Gly476=) c.2148C= (p.Gly716=) c.2298C= (p.Gly766=) c.2271C= (p.Gly757=) | |
| 7 | g.150949000G>T | CA458645194 | KCNH2 | n.3281C>A c.2448C>A (p.Gly816=) c.1428C>A (p.Gly476=) c.2148C>A (p.Gly716=) c.2298C>A (p.Gly766=) c.2271C>A (p.Gly757=) | |
| 7 | g.150949001C>A | CA369855258 | KCNH2 | n.3280G>T c.2447G>T (p.Gly816Val) c.1427G>T (p.Gly476Val) c.2147G>T (p.Gly716Val) c.2297G>T (p.Gly766Val) c.2270G>T (p.Gly757Val) | |
| 7 | g.150949001C>G | CA369855259 | KCNH2 | n.3280G>C c.2447G>C (p.Gly816Ala) c.1427G>C (p.Gly476Ala) c.2147G>C (p.Gly716Ala) c.2297G>C (p.Gly766Ala) c.2270G>C (p.Gly757Ala) | |
| 7 | g.150949001C>T | CA369855260 | KCNH2 | n.3280G>A c.2447G>A (p.Gly816Asp) c.1427G>A (p.Gly476Asp) c.2147G>A (p.Gly716Asp) c.2297G>A (p.Gly766Asp) c.2270G>A (p.Gly757Asp) | |
| 7 | g.150949002C>A | CA369855262 | KCNH2 | n.3279G>T c.2446G>T (p.Gly816Cys) c.1426G>T (p.Gly476Cys) c.2146G>T (p.Gly716Cys) c.2296G>T (p.Gly766Cys) c.2269G>T (p.Gly757Cys) | |
| 7 | g.150949002C>G | CA369855266 | KCNH2 | n.3279G>C c.2446G>C (p.Gly816Arg) c.1426G>C (p.Gly476Arg) c.2146G>C (p.Gly716Arg) c.2296G>C (p.Gly766Arg) c.2269G>C (p.Gly757Arg) | |
| 7 | g.150949002C>T | CA369855264 | KCNH2 | n.3279G>A c.2446G>A (p.Gly816Ser) c.1426G>A (p.Gly476Ser) c.2146G>A (p.Gly716Ser) c.2296G>A (p.Gly766Ser) c.2269G>A (p.Gly757Ser) | |
| 7 | g.150949003A= | CA1752432055 | KCNH2 | n.3278T= c.2445T= (p.Pro815=) c.1425T= (p.Pro475=) c.2145T= (p.Pro715=) c.2295T= (p.Pro765=) c.2268T= (p.Pro756=) | |
| 7 | g.150949003A>C | CA458645195 | KCNH2 | n.3278T>G c.2445T>G (p.Pro815=) c.1425T>G (p.Pro475=) c.2145T>G (p.Pro715=) c.2295T>G (p.Pro765=) c.2268T>G (p.Pro756=) | |
| 7 | g.150949003A>G | CA032754 | KCNH2 | n.3278T>C c.2445T>C (p.Pro815=) c.1425T>C (p.Pro475=) c.2145T>C (p.Pro715=) c.2295T>C (p.Pro765=) c.2268T>C (p.Pro756=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.150949003A>T | CA458645196 | KCNH2 | n.3278T>A c.2445T>A (p.Pro815=) c.1425T>A (p.Pro475=) c.2145T>A (p.Pro715=) c.2295T>A (p.Pro765=) c.2268T>A (p.Pro756=) | |
| 7 | g.150949004G>A | CA369855270 | KCNH2 | n.3277C>T c.2444C>T (p.Pro815Leu) c.1424C>T (p.Pro475Leu) c.2144C>T (p.Pro715Leu) c.2294C>T (p.Pro765Leu) c.2267C>T (p.Pro756Leu) | |
| 7 | g.150949004G>C | CA369855271 | KCNH2 | n.3277C>G c.2444C>G (p.Pro815Arg) c.1424C>G (p.Pro475Arg) c.2144C>G (p.Pro715Arg) c.2294C>G (p.Pro765Arg) c.2267C>G (p.Pro756Arg) | |
| 7 | g.150949004G>T | CA369855274 | KCNH2 | n.3277C>A c.2444C>A (p.Pro815His) c.1424C>A (p.Pro475His) c.2144C>A (p.Pro715His) c.2294C>A (p.Pro765His) c.2267C>A (p.Pro756His) | |
| 7 | g.150949005G>A | CA369855276 | KCNH2 | n.3276C>T c.2443C>T (p.Pro815Ser) c.1423C>T (p.Pro475Ser) c.2143C>T (p.Pro715Ser) c.2293C>T (p.Pro765Ser) c.2266C>T (p.Pro756Ser) | |
| 7 | g.150949005G>C | CA369855280 | KCNH2 | n.3276C>G c.2443C>G (p.Pro815Ala) c.1423C>G (p.Pro475Ala) c.2143C>G (p.Pro715Ala) c.2293C>G (p.Pro765Ala) c.2266C>G (p.Pro756Ala) | |
| 7 | g.150949005G>T | CA369855278 | KCNH2 | n.3276C>A c.2443C>A (p.Pro815Thr) c.1423C>A (p.Pro475Thr) c.2143C>A (p.Pro715Thr) c.2293C>A (p.Pro765Thr) c.2266C>A (p.Pro756Thr) | |
| 7 | g.150949006C>A | CA369855282 | KCNH2 | n.3275G>T c.2442G>T (p.Arg814Ser) c.1422G>T (p.Arg474Ser) c.2142G>T (p.Arg714Ser) c.2292G>T (p.Arg764Ser) c.2265G>T (p.Arg755Ser) | |
| 7 | g.150949006C>G | CA369855284 | KCNH2 | n.3275G>C c.2442G>C (p.Arg814Ser) c.1422G>C (p.Arg474Ser) c.2142G>C (p.Arg714Ser) c.2292G>C (p.Arg764Ser) c.2265G>C (p.Arg755Ser) | |
| 7 | g.150949006C>T | CA458645197 | KCNH2 | n.3275G>A c.2442G>A (p.Arg814=) c.1422G>A (p.Arg474=) c.2142G>A (p.Arg714=) c.2292G>A (p.Arg764=) c.2265G>A (p.Arg755=) | |
| 7 | g.150949007C>A | CA369855286 | KCNH2 | n.3274G>T c.2441G>T (p.Arg814Met) c.1421G>T (p.Arg474Met) c.2141G>T (p.Arg714Met) c.2291G>T (p.Arg764Met) c.2264G>T (p.Arg755Met) | dbSNP |
| 7 | g.150949007C>G | CA369855288 | KCNH2 | n.3274G>C c.2441G>C (p.Arg814Thr) c.1421G>C (p.Arg474Thr) c.2141G>C (p.Arg714Thr) c.2291G>C (p.Arg764Thr) c.2264G>C (p.Arg755Thr) | |
| 7 | g.150949007C>T | CA369855290 | KCNH2 | n.3274G>A c.2441G>A (p.Arg814Lys) c.1421G>A (p.Arg474Lys) c.2141G>A (p.Arg714Lys) c.2291G>A (p.Arg764Lys) c.2264G>A (p.Arg755Lys) | gnomAD v4 |
| 7 | g.150949008T>A | CA369855292 | KCNH2 | n.3273A>T c.2440A>T (p.Arg814Trp) c.1420A>T (p.Arg474Trp) c.2140A>T (p.Arg714Trp) c.2290A>T (p.Arg764Trp) c.2263A>T (p.Arg755Trp) | |
| 7 | g.150949008T>C | CA369855294 | KCNH2 | n.3273A>G c.2440A>G (p.Arg814Gly) c.1420A>G (p.Arg474Gly) c.2140A>G (p.Arg714Gly) c.2290A>G (p.Arg764Gly) c.2263A>G (p.Arg755Gly) | |
| 7 | g.150949008T>G | CA458645198 | KCNH2 | n.3273A>C c.2440A>C (p.Arg814=) c.1420A>C (p.Arg474=) c.2140A>C (p.Arg714=) c.2290A>C (p.Arg764=) c.2263A>C (p.Arg755=) |