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.150948932A>C | CA369854983 | KCNH2 | n.3349T>G c.2516T>G (p.Leu839Arg) c.1496T>G (p.Leu499Arg) c.2216T>G (p.Leu739Arg) c.2366T>G (p.Leu789Arg) c.2339T>G (p.Leu780Arg) | |
| 7 | g.150948932A>G | CA369854981 | KCNH2 | n.3349T>C c.2516T>C (p.Leu839Pro) c.1496T>C (p.Leu499Pro) c.2216T>C (p.Leu739Pro) c.2366T>C (p.Leu789Pro) c.2339T>C (p.Leu780Pro) | |
| 7 | g.150948932A>T | CA369854979 | KCNH2 | n.3349T>A c.2516T>A (p.Leu839Gln) c.1496T>A (p.Leu499Gln) c.2216T>A (p.Leu739Gln) c.2366T>A (p.Leu789Gln) c.2339T>A (p.Leu780Gln) | |
| 7 | g.150948933G>A | CA458645152 | KCNH2 | n.3348C>T c.2515C>T (p.Leu839=) c.1495C>T (p.Leu499=) c.2215C>T (p.Leu739=) c.2365C>T (p.Leu789=) c.2338C>T (p.Leu780=) | |
| 7 | g.150948933G>C | CA369854985 | KCNH2 | n.3348C>G c.2515C>G (p.Leu839Val) c.1495C>G (p.Leu499Val) c.2215C>G (p.Leu739Val) c.2365C>G (p.Leu789Val) c.2338C>G (p.Leu780Val) | |
| 7 | g.150948933G= | CA1752431927 | KCNH2 | n.3348C= c.2515C= (p.Leu839=) c.1495C= (p.Leu499=) c.2215C= (p.Leu739=) c.2365C= (p.Leu789=) c.2338C= (p.Leu780=) | |
| 7 | g.150948933G>T | CA369854987 | KCNH2 | n.3348C>A c.2515C>A (p.Leu839Met) c.1495C>A (p.Leu499Met) c.2215C>A (p.Leu739Met) c.2365C>A (p.Leu789Met) c.2338C>A (p.Leu780Met) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150948934C>A | CA458645153 | KCNH2 | n.3347G>T c.2514G>T (p.Leu838=) c.1494G>T (p.Leu498=) c.2214G>T (p.Leu738=) c.2364G>T (p.Leu788=) c.2337G>T (p.Leu779=) | ClinVar |
| 7 | g.150948934C>G | CA458645155 | KCNH2 | n.3347G>C c.2514G>C (p.Leu838=) c.1494G>C (p.Leu498=) c.2214G>C (p.Leu738=) c.2364G>C (p.Leu788=) c.2337G>C (p.Leu779=) | |
| 7 | g.150948934C>T | CA458645154 | KCNH2 | n.3347G>A c.2514G>A (p.Leu838=) c.1494G>A (p.Leu498=) c.2214G>A (p.Leu738=) c.2364G>A (p.Leu788=) c.2337G>A (p.Leu779=) | |
| 7 | g.150948935A>C | CA369854989 | KCNH2 | n.3346T>G c.2513T>G (p.Leu838Arg) c.1493T>G (p.Leu498Arg) c.2213T>G (p.Leu738Arg) c.2363T>G (p.Leu788Arg) c.2336T>G (p.Leu779Arg) | |
| 7 | g.150948935A>G | CA369854991 | KCNH2 | n.3346T>C c.2513T>C (p.Leu838Pro) c.1493T>C (p.Leu498Pro) c.2213T>C (p.Leu738Pro) c.2363T>C (p.Leu788Pro) c.2336T>C (p.Leu779Pro) | |
| 7 | g.150948935A>T | CA369854993 | KCNH2 | n.3346T>A c.2513T>A (p.Leu838Gln) c.1493T>A (p.Leu498Gln) c.2213T>A (p.Leu738Gln) c.2363T>A (p.Leu788Gln) c.2336T>A (p.Leu779Gln) | |
| 7 | g.150948936G>A | CA458645156 | KCNH2 | n.3345C>T c.2512C>T (p.Leu838=) c.1492C>T (p.Leu498=) c.2212C>T (p.Leu738=) c.2362C>T (p.Leu788=) c.2335C>T (p.Leu779=) | |
| 7 | g.150948936G>C | CA369854995 | KCNH2 | n.3345C>G c.2512C>G (p.Leu838Val) c.1492C>G (p.Leu498Val) c.2212C>G (p.Leu738Val) c.2362C>G (p.Leu788Val) c.2335C>G (p.Leu779Val) | |
| 7 | g.150948936G>T | CA369854997 | KCNH2 | n.3345C>A c.2512C>A (p.Leu838Met) c.1492C>A (p.Leu498Met) c.2212C>A (p.Leu738Met) c.2362C>A (p.Leu788Met) c.2335C>A (p.Leu779Met) | |
| 7 | g.150948937G>A | CA458645158 | KCNH2 | n.3344C>T c.2511C>T (p.Asp837=) c.1491C>T (p.Asp497=) c.2211C>T (p.Asp737=) c.2361C>T (p.Asp787=) c.2334C>T (p.Asp778=) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.150948937G>C | CA369854999 | KCNH2 | n.3344C>G c.2511C>G (p.Asp837Glu) c.1491C>G (p.Asp497Glu) c.2211C>G (p.Asp737Glu) c.2361C>G (p.Asp787Glu) c.2334C>G (p.Asp778Glu) | |
| 7 | g.150948937G= | CA1752431933 | KCNH2 | n.3344C= c.2511C= (p.Asp837=) c.1491C= (p.Asp497=) c.2211C= (p.Asp737=) c.2361C= (p.Asp787=) c.2334C= (p.Asp778=) | |
| 7 | g.150948937G>T | CA369855001 | KCNH2 | n.3344C>A c.2511C>A (p.Asp837Glu) c.1491C>A (p.Asp497Glu) c.2211C>A (p.Asp737Glu) c.2361C>A (p.Asp787Glu) c.2334C>A (p.Asp778Glu) | |
| 7 | g.150948938T>A | CA369855003 | KCNH2 | n.3343A>T c.2510A>T (p.Asp837Val) c.1490A>T (p.Asp497Val) c.2210A>T (p.Asp737Val) c.2360A>T (p.Asp787Val) c.2333A>T (p.Asp778Val) | |
| 7 | g.150948938T>C | CA006888 | KCNH2 | n.3343A>G c.2510A>G (p.Asp837Gly) c.1490A>G (p.Asp497Gly) c.2210A>G (p.Asp737Gly) c.2360A>G (p.Asp787Gly) c.2333A>G (p.Asp778Gly) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150948938T>G | CA369855005 | KCNH2 | n.3343A>C c.2510A>C (p.Asp837Ala) c.1490A>C (p.Asp497Ala) c.2210A>C (p.Asp737Ala) c.2360A>C (p.Asp787Ala) c.2333A>C (p.Asp778Ala) | |
| 7 | g.150948938T= | CA1752431937 | KCNH2 | n.3343A= c.2510A= (p.Asp837=) c.1490A= (p.Asp497=) c.2210A= (p.Asp737=) c.2360A= (p.Asp787=) c.2333A= (p.Asp778=) | |
| 7 | g.150948939C>A | CA006879 | KCNH2 | n.3342G>T c.2509G>T (p.Asp837Tyr) c.1489G>T (p.Asp497Tyr) c.2209G>T (p.Asp737Tyr) c.2359G>T (p.Asp787Tyr) c.2332G>T (p.Asp778Tyr) | ClinVar dbSNP |
| 7 | g.150948939C= | CA1752431942 | KCNH2 | n.3342G= c.2509G= (p.Asp837=) c.1489G= (p.Asp497=) c.2209G= (p.Asp737=) c.2359G= (p.Asp787=) c.2332G= (p.Asp778=) | |
| 7 | g.150948939C>G | CA369855009 | KCNH2 | n.3342G>C c.2509G>C (p.Asp837His) c.1489G>C (p.Asp497His) c.2209G>C (p.Asp737His) c.2359G>C (p.Asp787His) c.2332G>C (p.Asp778His) | dbSNP |
| 7 | g.150948939C>T | CA006870 | KCNH2 | n.3342G>A c.2509G>A (p.Asp837Asn) c.1489G>A (p.Asp497Asn) c.2209G>A (p.Asp737Asn) c.2359G>A (p.Asp787Asn) c.2332G>A (p.Asp778Asn) | ClinVar dbSNP |
| 7 | g.150948940G>A | CA169074781 | KCNH2 | n.3341C>T c.2508C>T (p.Asp836=) c.1488C>T (p.Asp496=) c.2208C>T (p.Asp736=) c.2358C>T (p.Asp786=) c.2331C>T (p.Asp777=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.150948940G>C | CA369855012 | KCNH2 | n.3341C>G c.2508C>G (p.Asp836Glu) c.1488C>G (p.Asp496Glu) c.2208C>G (p.Asp736Glu) c.2358C>G (p.Asp786Glu) c.2331C>G (p.Asp777Glu) | ClinVar |
| 7 | g.150948940G= | CA1752431947 | KCNH2 | n.3341C= c.2508C= (p.Asp836=) c.1488C= (p.Asp496=) c.2208C= (p.Asp736=) c.2358C= (p.Asp786=) c.2331C= (p.Asp777=) | |
| 7 | g.150948940G>T | CA369855014 | KCNH2 | n.3341C>A c.2508C>A (p.Asp836Glu) c.1488C>A (p.Asp496Glu) c.2208C>A (p.Asp736Glu) c.2358C>A (p.Asp786Glu) c.2331C>A (p.Asp777Glu) | |
| 7 | g.150948941T>A | CA369855017 | KCNH2 | n.3340A>T c.2507A>T (p.Asp836Val) c.1487A>T (p.Asp496Val) c.2207A>T (p.Asp736Val) c.2357A>T (p.Asp786Val) c.2330A>T (p.Asp777Val) | |
| 7 | g.150948941T>C | CA369855021 | KCNH2 | n.3340A>G c.2507A>G (p.Asp836Gly) c.1487A>G (p.Asp496Gly) c.2207A>G (p.Asp736Gly) c.2357A>G (p.Asp786Gly) c.2330A>G (p.Asp777Gly) | |
| 7 | g.150948941T>G | CA369855019 | KCNH2 | n.3340A>C c.2507A>C (p.Asp836Ala) c.1487A>C (p.Asp496Ala) c.2207A>C (p.Asp736Ala) c.2357A>C (p.Asp786Ala) c.2330A>C (p.Asp777Ala) | |
| 7 | g.150948942C>A | CA369855023 | KCNH2 | n.3339G>T c.2506G>T (p.Asp836Tyr) c.1486G>T (p.Asp496Tyr) c.2206G>T (p.Asp736Tyr) c.2356G>T (p.Asp786Tyr) c.2329G>T (p.Asp777Tyr) | |
| 7 | g.150948942C>G | CA369855024 | KCNH2 | n.3339G>C c.2506G>C (p.Asp836His) c.1486G>C (p.Asp496His) c.2206G>C (p.Asp736His) c.2356G>C (p.Asp786His) c.2329G>C (p.Asp777His) | |
| 7 | g.150948942C>T | CA369855026 | KCNH2 | n.3339G>A c.2506G>A (p.Asp836Asn) c.1486G>A (p.Asp496Asn) c.2206G>A (p.Asp736Asn) c.2356G>A (p.Asp786Asn) c.2329G>A (p.Asp777Asn) | |
| 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.150948943C>A | CA458645159 | KCNH2 | n.3338G>T c.2505G>T (p.Arg835=) c.1485G>T (p.Arg495=) c.2205G>T (p.Arg735=) c.2355G>T (p.Arg785=) c.2328G>T (p.Arg776=) | |
| 7 | g.150948943C>G | CA458645160 | KCNH2 | n.3338G>C c.2505G>C (p.Arg835=) c.1485G>C (p.Arg495=) c.2205G>C (p.Arg735=) c.2355G>C (p.Arg785=) c.2328G>C (p.Arg776=) | |
| 7 | g.150948943C>T | CA458645161 | KCNH2 | n.3338G>A c.2505G>A (p.Arg835=) c.1485G>A (p.Arg495=) c.2205G>A (p.Arg735=) c.2355G>A (p.Arg785=) c.2328G>A (p.Arg776=) | |
| 7 | g.150948944C>A | CA369855028 | KCNH2 | n.3337G>T c.2504G>T (p.Arg835Leu) c.1484G>T (p.Arg495Leu) c.2204G>T (p.Arg735Leu) c.2354G>T (p.Arg785Leu) c.2327G>T (p.Arg776Leu) | |
| 7 | g.150948944C= | CA1752431953 | KCNH2 | n.3337G= c.2504G= (p.Arg835=) c.1484G= (p.Arg495=) c.2204G= (p.Arg735=) c.2354G= (p.Arg785=) c.2327G= (p.Arg776=) | |
| 7 | g.150948944C>G | CA369855030 | KCNH2 | n.3337G>C c.2504G>C (p.Arg835Pro) c.1484G>C (p.Arg495Pro) c.2204G>C (p.Arg735Pro) c.2354G>C (p.Arg785Pro) c.2327G>C (p.Arg776Pro) | |
| 7 | g.150948944C>T | CA006860 | KCNH2 | n.3337G>A c.2504G>A (p.Arg835Gln) c.1484G>A (p.Arg495Gln) c.2204G>A (p.Arg735Gln) c.2354G>A (p.Arg785Gln) c.2327G>A (p.Arg776Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150948945del | CA2695208826 | KCNH2 | n.3336del c.2503del (p.Arg835GlyfsTer?) c.1483del (p.Arg495GlyfsTer?) c.2203del (p.Arg735GlyfsTer?) c.2353del (p.Arg785GlyfsTer?) c.2326del (p.Arg776GlyfsTer?) | |
| 7 | g.150948945G>A | CA006850 | KCNH2 | n.3336C>T c.2503C>T (p.Arg835Trp) c.1483C>T (p.Arg495Trp) c.2203C>T (p.Arg735Trp) c.2353C>T (p.Arg785Trp) c.2326C>T (p.Arg776Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.150948945G>C | CA369855034 | KCNH2 | n.3336C>G c.2503C>G (p.Arg835Gly) c.1483C>G (p.Arg495Gly) c.2203C>G (p.Arg735Gly) c.2353C>G (p.Arg785Gly) c.2326C>G (p.Arg776Gly) |