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 |
|---|---|---|---|---|---|
| 19 | g.40396023G>A | CA405896522 | PRX | c.2329C>T (p.Pro777Ser) c.1912C>T (p.Pro638Ser) c.2614C>T (p.Pro872Ser) c.2204C>T c.2190C>T c.2291C>T c.2216C>T c.*2534C>T (n.*2534C>T) c.2227C>T (p.Pro743Ser) | |
| 19 | g.40396023G>C | CA405896523 | PRX | c.2329C>G (p.Pro777Ala) c.1912C>G (p.Pro638Ala) c.2614C>G (p.Pro872Ala) c.2204C>G c.2190C>G c.2291C>G c.2216C>G c.*2534C>G (n.*2534C>G) c.2227C>G (p.Pro743Ala) | |
| 19 | g.40396023G>T | CA405896524 | PRX | c.2329C>A (p.Pro777Thr) c.1912C>A (p.Pro638Thr) c.2614C>A (p.Pro872Thr) c.2204C>A c.2190C>A c.2291C>A c.2216C>A c.*2534C>A (n.*2534C>A) c.2227C>A (p.Pro743Thr) | |
| 19 | g.40396024C>A | CA507679417 | PRX | c.2328G>T (p.Leu776=) c.1911G>T (p.Leu637=) c.2613G>T (p.Leu871=) c.2203G>T c.2189G>T c.2290G>T c.2215G>T c.*2533G>T (n.*2533G>T) c.2226G>T (p.Leu742=) | |
| 19 | g.40396024C>G | CA507679419 | PRX | c.2328G>C (p.Leu776=) c.1911G>C (p.Leu637=) c.2613G>C (p.Leu871=) c.2203G>C c.2189G>C c.2290G>C c.2215G>C c.*2533G>C (n.*2533G>C) c.2226G>C (p.Leu742=) | |
| 19 | g.40396024C>T | CA507679420 | PRX | c.2328G>A (p.Leu776=) c.1911G>A (p.Leu637=) c.2613G>A (p.Leu871=) c.2203G>A c.2189G>A c.2290G>A c.2215G>A c.*2533G>A (n.*2533G>A) c.2226G>A (p.Leu742=) | |
| 19 | g.40396025A>C | CA405896525 | PRX | c.2327T>G (p.Leu776Arg) c.1910T>G (p.Leu637Arg) c.2612T>G (p.Leu871Arg) c.2202T>G c.2188T>G c.2289T>G c.2214T>G c.*2532T>G (n.*2532T>G) c.2225T>G (p.Leu742Arg) | |
| 19 | g.40396025A>G | CA405896526 | PRX | c.2327T>C (p.Leu776Pro) c.1910T>C (p.Leu637Pro) c.2612T>C (p.Leu871Pro) c.2202T>C c.2188T>C c.2289T>C c.2214T>C c.*2532T>C (n.*2532T>C) c.2225T>C (p.Leu742Pro) | |
| 19 | g.40396025A>T | CA405896527 | PRX | c.2327T>A (p.Leu776Gln) c.1910T>A (p.Leu637Gln) c.2612T>A (p.Leu871Gln) c.2202T>A c.2188T>A c.2289T>A c.2214T>A c.*2532T>A (n.*2532T>A) c.2225T>A (p.Leu742Gln) | |
| 19 | g.40396026G>A | CA507679421 | PRX | c.2326C>T (p.Leu776=) c.1909C>T (p.Leu637=) c.2611C>T (p.Leu871=) c.2201C>T c.2187C>T c.2288C>T c.2213C>T c.*2531C>T (n.*2531C>T) c.2224C>T (p.Leu742=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396026G>C | CA405896529 | PRX | c.2326C>G (p.Leu776Val) c.1909C>G (p.Leu637Val) c.2611C>G (p.Leu871Val) c.2201C>G c.2187C>G c.2288C>G c.2213C>G c.*2531C>G (n.*2531C>G) c.2224C>G (p.Leu742Val) | gnomAD v4 |
| 19 | g.40396026G= | CA2335961419 | PRX | c.2326C= (p.Leu776=) c.1909C= (p.Leu637=) c.2611C= (p.Leu871=) c.2201C= c.2187C= c.2288C= c.2213C= c.*2531C= (n.*2531C=) c.2224C= (p.Leu742=) | |
| 19 | g.40396026G>T | CA405896528 | PRX | c.2326C>A (p.Leu776Met) c.1909C>A (p.Leu637Met) c.2611C>A (p.Leu871Met) c.2201C>A c.2187C>A c.2288C>A c.2213C>A c.*2531C>A (n.*2531C>A) c.2224C>A (p.Leu742Met) | dbSNP |
| 19 | g.40396027C>A | CA405896530 | PRX | c.2325G>T (p.Lys775Asn) c.1908G>T (p.Lys636Asn) c.2610G>T (p.Lys870Asn) c.2200G>T c.2186G>T c.2287G>T c.2212G>T c.*2530G>T (n.*2530G>T) c.2223G>T (p.Lys741Asn) | |
| 19 | g.40396027C>G | CA405896531 | PRX | c.2325G>C (p.Lys775Asn) c.1908G>C (p.Lys636Asn) c.2610G>C (p.Lys870Asn) c.2200G>C c.2186G>C c.2287G>C c.2212G>C c.*2530G>C (n.*2530G>C) c.2223G>C (p.Lys741Asn) | |
| 19 | g.40396027C>T | CA507679423 | PRX | c.2325G>A (p.Lys775=) c.1908G>A (p.Lys636=) c.2610G>A (p.Lys870=) c.2200G>A c.2186G>A c.2287G>A c.2212G>A c.*2530G>A (n.*2530G>A) c.2223G>A (p.Lys741=) | |
| 19 | g.40396028T>A | CA405896532 | PRX | c.2324A>T (p.Lys775Met) c.1907A>T (p.Lys636Met) c.2609A>T (p.Lys870Met) c.2199A>T c.2185A>T c.2286A>T c.2211A>T c.*2529A>T (n.*2529A>T) c.2222A>T (p.Lys741Met) | |
| 19 | g.40396028T>C | CA405896533 | PRX | c.2324A>G (p.Lys775Arg) c.1907A>G (p.Lys636Arg) c.2609A>G (p.Lys870Arg) c.2199A>G c.2185A>G c.2286A>G c.2211A>G c.*2529A>G (n.*2529A>G) c.2222A>G (p.Lys741Arg) | gnomAD v4 |
| 19 | g.40396028T>G | CA405896534 | PRX | c.2324A>C (p.Lys775Thr) c.1907A>C (p.Lys636Thr) c.2609A>C (p.Lys870Thr) c.2199A>C c.2185A>C c.2286A>C c.2211A>C c.*2529A>C (n.*2529A>C) c.2222A>C (p.Lys741Thr) | |
| 19 | g.40396029T>A | CA405896535 | PRX | c.2323A>T (p.Lys775Ter) c.1906A>T (p.Lys636Ter) c.2608A>T (p.Lys870Ter) c.2198A>T c.2184A>T c.2285A>T c.2210A>T c.*2528A>T (n.*2528A>T) c.2221A>T (p.Lys741Ter) | |
| 19 | g.40396029T>C | CA405896536 | PRX | c.2323A>G (p.Lys775Glu) c.1906A>G (p.Lys636Glu) c.2608A>G (p.Lys870Glu) c.2198A>G c.2184A>G c.2285A>G c.2210A>G c.*2528A>G (n.*2528A>G) c.2221A>G (p.Lys741Glu) | |
| 19 | g.40396029T>G | CA405896537 | PRX | c.2323A>C (p.Lys775Gln) c.1906A>C (p.Lys636Gln) c.2608A>C (p.Lys870Gln) c.2198A>C c.2184A>C c.2285A>C c.2210A>C c.*2528A>C (n.*2528A>C) c.2221A>C (p.Lys741Gln) | |
| 19 | g.40396030C>A | CA507679429 | PRX | c.2322G>T (p.Val774=) c.1905G>T (p.Val635=) c.2607G>T (p.Val869=) c.2197G>T c.2183G>T c.2284G>T c.2209G>T c.*2527G>T (n.*2527G>T) c.2220G>T (p.Val740=) | |
| 19 | g.40396030C= | CA2335961420 | PRX | c.2322G= (p.Val774=) c.1905G= (p.Val635=) c.2607G= (p.Val869=) c.2197G= c.2183G= c.2284G= c.2209G= c.*2527G= (n.*2527G=) c.2220G= (p.Val740=) | |
| 19 | g.40396030C>G | CA507679428 | PRX | c.2322G>C (p.Val774=) c.1905G>C (p.Val635=) c.2607G>C (p.Val869=) c.2197G>C c.2183G>C c.2284G>C c.2209G>C c.*2527G>C (n.*2527G>C) c.2220G>C (p.Val740=) | |
| 19 | g.40396030C>T | CA507679427 | PRX | c.2322G>A (p.Val774=) c.1905G>A (p.Val635=) c.2607G>A (p.Val869=) c.2197G>A c.2183G>A c.2284G>A c.2209G>A c.*2527G>A (n.*2527G>A) c.2220G>A (p.Val740=) | |
| 19 | g.40396030_40396031insG | CA633466295 | PRX | c.2321_2322insC (p.Lys775GlufsTer?) c.1904_1905insC (p.Lys636GlufsTer?) c.2606_2607insC (p.Lys870GlufsTer?) c.2196_2197insC c.2182_2183insC c.2283_2284insC c.2208_2209insC c.*2526_*2527insC (n.*2526_*2527insC) c.2219_2220insC (p.Lys741GlufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396031A= | CA2335961421 | PRX | c.2321T= (p.Val774=) c.1904T= (p.Val635=) c.2606T= (p.Val869=) c.2196T= c.2182T= c.2283T= c.2208T= c.*2526T= (n.*2526T=) c.2219T= (p.Val740=) | |
| 19 | g.40396031A>C | CA405896538 | PRX | c.2321T>G (p.Val774Gly) c.1904T>G (p.Val635Gly) c.2606T>G (p.Val869Gly) c.2196T>G c.2182T>G c.2283T>G c.2208T>G c.*2526T>G (n.*2526T>G) c.2219T>G (p.Val740Gly) | dbSNP |
| 19 | g.40396031A>G | CA405896539 | PRX | c.2321T>C (p.Val774Ala) c.1904T>C (p.Val635Ala) c.2606T>C (p.Val869Ala) c.2196T>C c.2182T>C c.2283T>C c.2208T>C c.*2526T>C (n.*2526T>C) c.2219T>C (p.Val740Ala) | |
| 19 | g.40396031A>T | CA405896540 | PRX | c.2321T>A (p.Val774Glu) c.1904T>A (p.Val635Glu) c.2606T>A (p.Val869Glu) c.2196T>A c.2182T>A c.2283T>A c.2208T>A c.*2526T>A (n.*2526T>A) c.2219T>A (p.Val740Glu) | |
| 19 | g.40396032C>A | CA9444072 | PRX | c.2320G>T (p.Val774Leu) c.1903G>T (p.Val635Leu) c.2605G>T (p.Val869Leu) c.2195G>T c.2181G>T c.2282G>T c.2207G>T c.*2525G>T (n.*2525G>T) c.2218G>T (p.Val740Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396032C= | CA2335961422 | PRX | c.2320G= (p.Val774=) c.1903G= (p.Val635=) c.2605G= (p.Val869=) c.2195G= c.2181G= c.2282G= c.2207G= c.*2525G= (n.*2525G=) c.2218G= (p.Val740=) | |
| 19 | g.40396032C>G | CA405896541 | PRX | c.2320G>C (p.Val774Leu) c.1903G>C (p.Val635Leu) c.2605G>C (p.Val869Leu) c.2195G>C c.2181G>C c.2282G>C c.2207G>C c.*2525G>C (n.*2525G>C) c.2218G>C (p.Val740Leu) | |
| 19 | g.40396032C>T | CA405896542 | PRX | c.2320G>A (p.Val774Met) c.1903G>A (p.Val635Met) c.2605G>A (p.Val869Met) c.2195G>A c.2181G>A c.2282G>A c.2207G>A c.*2525G>A (n.*2525G>A) c.2218G>A (p.Val740Met) | gnomAD v4 |
| 19 | g.40396035_40396043del | CA2585127079 | PRX | c.2312_2320del (p.Ala771_Glu773del) c.1895_1903del (p.Ala632_Glu634del) c.2597_2605del (p.Ala866_Glu868del) c.2187_2195del c.2173_2181del c.2274_2282del c.2199_2207del c.*2517_*2525del (n.*2517_*2525del) c.2210_2218del (p.Ala737_Glu739del) | gnomAD v4 |
| 19 | g.40396033C>A | CA405896544 | PRX | c.2319G>T (p.Glu773Asp) c.1902G>T (p.Glu634Asp) c.2604G>T (p.Glu868Asp) c.2194G>T c.2180G>T c.2281G>T c.2206G>T c.*2524G>T (n.*2524G>T) c.2217G>T (p.Glu739Asp) | |
| 19 | g.40396033C>G | CA405896543 | PRX | c.2319G>C (p.Glu773Asp) c.1902G>C (p.Glu634Asp) c.2604G>C (p.Glu868Asp) c.2194G>C c.2180G>C c.2281G>C c.2206G>C c.*2524G>C (n.*2524G>C) c.2217G>C (p.Glu739Asp) | COSMIC |
| 19 | g.40396033C>T | CA507679437 | PRX | c.2319G>A (p.Glu773=) c.1902G>A (p.Glu634=) c.2604G>A (p.Glu868=) c.2194G>A c.2180G>A c.2281G>A c.2206G>A c.*2524G>A (n.*2524G>A) c.2217G>A (p.Glu739=) | |
| 19 | g.40396034T>A | CA405896545 | PRX | c.2318A>T (p.Glu773Val) c.1901A>T (p.Glu634Val) c.2603A>T (p.Glu868Val) c.2193A>T c.2179A>T c.2280A>T c.2205A>T c.*2523A>T (n.*2523A>T) c.2216A>T (p.Glu739Val) | |
| 19 | g.40396034T>C | CA405896546 | PRX | c.2318A>G (p.Glu773Gly) c.1901A>G (p.Glu634Gly) c.2603A>G (p.Glu868Gly) c.2193A>G c.2179A>G c.2280A>G c.2205A>G c.*2523A>G (n.*2523A>G) c.2216A>G (p.Glu739Gly) | dbSNP gnomAD v4 |
| 19 | g.40396034T>G | CA9444073 | PRX | c.2318A>C (p.Glu773Ala) c.1901A>C (p.Glu634Ala) c.2603A>C (p.Glu868Ala) c.2193A>C c.2179A>C c.2280A>C c.2205A>C c.*2523A>C (n.*2523A>C) c.2216A>C (p.Glu739Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40396034T= | CA2335961423 | PRX | c.2318A= (p.Glu773=) c.1901A= (p.Glu634=) c.2603A= (p.Glu868=) c.2193A= c.2179A= c.2280A= c.2205A= c.*2523A= (n.*2523A=) c.2216A= (p.Glu739=) | |
| 19 | g.40396035C>A | CA405896547 | PRX | c.2317G>T (p.Glu773Ter) c.1900G>T (p.Glu634Ter) c.2602G>T (p.Glu868Ter) c.2192G>T c.2178G>T c.2279G>T c.2204G>T c.*2522G>T (n.*2522G>T) c.2215G>T (p.Glu739Ter) | |
| 19 | g.40396035C= | CA2335961424 | PRX | c.2317G= (p.Glu773=) c.1900G= (p.Glu634=) c.2602G= (p.Glu868=) c.2192G= c.2178G= c.2279G= c.2204G= c.*2522G= (n.*2522G=) c.2215G= (p.Glu739=) | |
| 19 | g.40396035C>G | CA405896549 | PRX | c.2317G>C (p.Glu773Gln) c.1900G>C (p.Glu634Gln) c.2602G>C (p.Glu868Gln) c.2192G>C c.2178G>C c.2279G>C c.2204G>C c.*2522G>C (n.*2522G>C) c.2215G>C (p.Glu739Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.40396035C>T | CA405896548 | PRX | c.2317G>A (p.Glu773Lys) c.1900G>A (p.Glu634Lys) c.2602G>A (p.Glu868Lys) c.2192G>A c.2178G>A c.2279G>A c.2204G>A c.*2522G>A (n.*2522G>A) c.2215G>A (p.Glu739Lys) | |
| 19 | g.40396036T>A | CA507679442 | PRX | c.2316A>T (p.Pro772=) c.1899A>T (p.Pro633=) c.2601A>T (p.Pro867=) c.2191A>T c.2177A>T c.2278A>T c.2203A>T c.*2521A>T (n.*2521A>T) c.2214A>T (p.Pro738=) | |
| 19 | g.40396036T>C | CA507679439 | PRX | c.2316A>G (p.Pro772=) c.1899A>G (p.Pro633=) c.2601A>G (p.Pro867=) c.2191A>G c.2177A>G c.2278A>G c.2203A>G c.*2521A>G (n.*2521A>G) c.2214A>G (p.Pro738=) | |
| 19 | g.40396036T>G | CA9444074 | PRX | c.2316A>C (p.Pro772=) c.1899A>C (p.Pro633=) c.2601A>C (p.Pro867=) c.2191A>C c.2177A>C c.2278A>C c.2203A>C c.*2521A>C (n.*2521A>C) c.2214A>C (p.Pro738=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |