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.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) | |
| 7 | g.150949013T>C | CA369855314 | KCNH2 | n.3268A>G c.2435A>G (p.Tyr812Cys) c.1415A>G (p.Tyr472Cys) c.2135A>G (p.Tyr712Cys) c.2285A>G (p.Tyr762Cys) c.2258A>G (p.Tyr753Cys) | ClinVar dbSNP |
| 7 | g.150949013T>G | CA369855316 | KCNH2 | n.3268A>C c.2435A>C (p.Tyr812Ser) c.1415A>C (p.Tyr472Ser) c.2135A>C (p.Tyr712Ser) c.2285A>C (p.Tyr762Ser) c.2258A>C (p.Tyr753Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150949013T= | CA1752432067 | KCNH2 | n.3268A= c.2435A= (p.Tyr812=) c.1415A= (p.Tyr472=) c.2135A= (p.Tyr712=) c.2285A= (p.Tyr762=) c.2258A= (p.Tyr753=) | |
| 7 | g.150949014A>C | CA369855319 | KCNH2 | n.3267T>G c.2434T>G (p.Tyr812Asp) c.1414T>G (p.Tyr472Asp) c.2134T>G (p.Tyr712Asp) c.2284T>G (p.Tyr762Asp) c.2257T>G (p.Tyr753Asp) | |
| 7 | g.150949014A>G | CA369855320 | KCNH2 | n.3267T>C c.2434T>C (p.Tyr812His) c.1414T>C (p.Tyr472His) c.2134T>C (p.Tyr712His) c.2284T>C (p.Tyr762His) c.2257T>C (p.Tyr753His) | |
| 7 | g.150949014A>T | CA369855321 | KCNH2 | n.3267T>A c.2434T>A (p.Tyr812Asn) c.1414T>A (p.Tyr472Asn) c.2134T>A (p.Tyr712Asn) c.2284T>A (p.Tyr762Asn) c.2257T>A (p.Tyr753Asn) | |
| 7 | g.150949015C>A | CA458645203 | KCNH2 | n.3266G>T c.2433G>T (p.Leu811=) c.1413G>T (p.Leu471=) c.2133G>T (p.Leu711=) c.2283G>T (p.Leu761=) c.2256G>T (p.Leu752=) | dbSNP |
| 7 | g.150949015C= | CA1752432069 | KCNH2 | n.3266G= c.2433G= (p.Leu811=) c.1413G= (p.Leu471=) c.2133G= (p.Leu711=) c.2283G= (p.Leu761=) c.2256G= (p.Leu752=) | |
| 7 | g.150949015C>G | CA458645205 | KCNH2 | n.3266G>C c.2433G>C (p.Leu811=) c.1413G>C (p.Leu471=) c.2133G>C (p.Leu711=) c.2283G>C (p.Leu761=) c.2256G>C (p.Leu752=) | |
| 7 | g.150949015C>T | CA458645204 | KCNH2 | n.3266G>A c.2433G>A (p.Leu811=) c.1413G>A (p.Leu471=) c.2133G>A (p.Leu711=) c.2283G>A (p.Leu761=) c.2256G>A (p.Leu752=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150949016A= | CA1752432070 | KCNH2 | n.3265T= c.2432T= (p.Leu811=) c.1412T= (p.Leu471=) c.2132T= (p.Leu711=) c.2282T= (p.Leu761=) c.2255T= (p.Leu752=) | |
| 7 | g.150949016A>C | CA369855323 | KCNH2 | n.3265T>G c.2432T>G (p.Leu811Arg) c.1412T>G (p.Leu471Arg) c.2132T>G (p.Leu711Arg) c.2282T>G (p.Leu761Arg) c.2255T>G (p.Leu752Arg) | |
| 7 | g.150949016A>G | CA369855326 | KCNH2 | n.3265T>C c.2432T>C (p.Leu811Pro) c.1412T>C (p.Leu471Pro) c.2132T>C (p.Leu711Pro) c.2282T>C (p.Leu761Pro) c.2255T>C (p.Leu752Pro) | dbSNP |
| 7 | g.150949016A>T | CA369855328 | KCNH2 | n.3265T>A c.2432T>A (p.Leu811Gln) c.1412T>A (p.Leu471Gln) c.2132T>A (p.Leu711Gln) c.2282T>A (p.Leu761Gln) c.2255T>A (p.Leu752Gln) | |
| 7 | g.150949017G>A | CA458645206 | KCNH2 | n.3264C>T c.2431C>T (p.Leu811=) c.1411C>T (p.Leu471=) c.2131C>T (p.Leu711=) c.2281C>T (p.Leu761=) c.2254C>T (p.Leu752=) | gnomAD v4 |
| 7 | g.150949017G>C | CA369855330 | KCNH2 | n.3264C>G c.2431C>G (p.Leu811Val) c.1411C>G (p.Leu471Val) c.2131C>G (p.Leu711Val) c.2281C>G (p.Leu761Val) c.2254C>G (p.Leu752Val) | |
| 7 | g.150949017G>T | CA369855331 | KCNH2 | n.3264C>A c.2431C>A (p.Leu811Met) c.1411C>A (p.Leu471Met) c.2131C>A (p.Leu711Met) c.2281C>A (p.Leu761Met) c.2254C>A (p.Leu752Met) |