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.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.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.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.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) | ClinVar |
| 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=) | |
| 7 | g.150949009T>A | CA458645199 | KCNH2 | n.3272A>T c.2439A>T (p.Ala813=) c.1419A>T (p.Ala473=) c.2139A>T (p.Ala713=) c.2289A>T (p.Ala763=) c.2262A>T (p.Ala754=) | |
| 7 | g.150949009T>C | CA458645201 | KCNH2 | n.3272A>G c.2439A>G (p.Ala813=) c.1419A>G (p.Ala473=) c.2139A>G (p.Ala713=) c.2289A>G (p.Ala763=) c.2262A>G (p.Ala754=) | |
| 7 | g.150949009T>G | CA458645200 | KCNH2 | n.3272A>C c.2439A>C (p.Ala813=) c.1419A>C (p.Ala473=) c.2139A>C (p.Ala713=) c.2289A>C (p.Ala763=) c.2262A>C (p.Ala754=) | |
| 7 | g.150949010G>A | CA369855296 | KCNH2 | n.3271C>T c.2438C>T (p.Ala813Val) c.1418C>T (p.Ala473Val) c.2138C>T (p.Ala713Val) c.2288C>T (p.Ala763Val) c.2261C>T (p.Ala754Val) | dbSNP |
| 7 | g.150949010G>C | CA369855298 | KCNH2 | n.3271C>G c.2438C>G (p.Ala813Gly) c.1418C>G (p.Ala473Gly) c.2138C>G (p.Ala713Gly) c.2288C>G (p.Ala763Gly) c.2261C>G (p.Ala754Gly) | ClinVar gnomAD v4 |
| 7 | g.150949010G= | CA1752432059 | KCNH2 | n.3271C= c.2438C= (p.Ala813=) c.1418C= (p.Ala473=) c.2138C= (p.Ala713=) c.2288C= (p.Ala763=) c.2261C= (p.Ala754=) | |
| 7 | g.150949010G>T | CA369855300 | KCNH2 | n.3271C>A c.2438C>A (p.Ala813Glu) c.1418C>A (p.Ala473Glu) c.2138C>A (p.Ala713Glu) c.2288C>A (p.Ala763Glu) c.2261C>A (p.Ala754Glu) | |
| 7 | g.150949011C>A | CA369855302 | KCNH2 | n.3270G>T c.2437G>T (p.Ala813Ser) c.1417G>T (p.Ala473Ser) c.2137G>T (p.Ala713Ser) c.2287G>T (p.Ala763Ser) c.2260G>T (p.Ala754Ser) | |
| 7 | g.150949011C= | CA1752432062 | KCNH2 | n.3270G= c.2437G= (p.Ala813=) c.1417G= (p.Ala473=) c.2137G= (p.Ala713=) c.2287G= (p.Ala763=) c.2260G= (p.Ala754=) | |
| 7 | g.150949011C>G | CA369855304 | KCNH2 | n.3270G>C c.2437G>C (p.Ala813Pro) c.1417G>C (p.Ala473Pro) c.2137G>C (p.Ala713Pro) c.2287G>C (p.Ala763Pro) c.2260G>C (p.Ala754Pro) | |
| 7 | g.150949011C>T | CA369855306 | KCNH2 | n.3270G>A c.2437G>A (p.Ala813Thr) c.1417G>A (p.Ala473Thr) c.2137G>A (p.Ala713Thr) c.2287G>A (p.Ala763Thr) c.2260G>A (p.Ala754Thr) | ClinVar dbSNP |
| 7 | g.150949012A= | CA1752432063 | KCNH2 | n.3269T= c.2436T= (p.Tyr812=) c.1416T= (p.Tyr472=) c.2136T= (p.Tyr712=) c.2286T= (p.Tyr762=) c.2259T= (p.Tyr753=) | |
| 7 | g.150949012A>C | CA369855310 | KCNH2 | n.3269T>G c.2436T>G (p.Tyr812Ter) c.1416T>G (p.Tyr472Ter) c.2136T>G (p.Tyr712Ter) c.2286T>G (p.Tyr762Ter) c.2259T>G (p.Tyr753Ter) | |
| 7 | g.150949012A>G | CA458645202 | KCNH2 | n.3269T>C c.2436T>C (p.Tyr812=) c.1416T>C (p.Tyr472=) c.2136T>C (p.Tyr712=) c.2286T>C (p.Tyr762=) c.2259T>C (p.Tyr753=) | dbSNP |
| 7 | g.150949012A>T | CA369855308 | KCNH2 | n.3269T>A c.2436T>A (p.Tyr812Ter) c.1416T>A (p.Tyr472Ter) c.2136T>A (p.Tyr712Ter) c.2286T>A (p.Tyr762Ter) c.2259T>A (p.Tyr753Ter) | ClinVar dbSNP |
| 7 | g.150949012dup | CA2695208829 | KCNH2 | n.3269dup c.2436dup (p.Ala813CysfsTer17) c.1416dup (p.Ala473CysfsTer17) c.2136dup (p.Ala713CysfsTer17) c.2286dup (p.Ala763CysfsTer17) c.2259dup (p.Ala754CysfsTer17) | |
| 7 | g.150949013T>A | CA369855313 | KCNH2 | n.3268A>T c.2435A>T (p.Tyr812Phe) c.1415A>T (p.Tyr472Phe) c.2135A>T (p.Tyr712Phe) c.2285A>T (p.Tyr762Phe) c.2258A>T (p.Tyr753Phe) |