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 |
|---|---|---|---|---|---|
| 11 | g.4138236G>A | CA5831196 | RRM1 | c.2232G>A (p.Ala744=) c.*2108G>A (n.*2108G>A) c.*1940G>A (n.*1940G>A) c.*1380G>A (n.*1380G>A) c.1566G>A (p.Ala522=) c.1941G>A (p.Ala647=) c.1218G>A (p.Ala406=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.4138236G>C | CA472543032 | RRM1 | c.2232G>C (p.Ala744=) c.*2108G>C (n.*2108G>C) c.*1940G>C (n.*1940G>C) c.*1380G>C (n.*1380G>C) c.1566G>C (p.Ala522=) c.1941G>C (p.Ala647=) c.1218G>C (p.Ala406=) | |
| 11 | g.4138236G= | CA1948963834 | RRM1 | c.2232G= (p.Ala744=) c.*2108G= (n.*2108G=) c.*1940G= (n.*1940G=) c.*1380G= (n.*1380G=) c.1566G= (p.Ala522=) c.1941G= (p.Ala647=) c.1218G= (p.Ala406=) | |
| 11 | g.4138236G>T | CA5831197 | RRM1 | c.2232G>T (p.Ala744=) c.*2108G>T (n.*2108G>T) c.*1940G>T (n.*1940G>T) c.*1380G>T (n.*1380G>T) c.1566G>T (p.Ala522=) c.1941G>T (p.Ala647=) c.1218G>T (p.Ala406=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.4138236_4138237insCA | CA2612115957 | RRM1 | c.2232_2233insCA (p.Ala745GlnfsTer9) c.*2108_*2109insCA (n.*2108_*2109insCA) c.*1940_*1941insCA (n.*1940_*1941insCA) c.*1380_*1381insCA (n.*1380_*1381insCA) c.1566_1567insCA (p.Ala523GlnfsTer9) c.1941_1942insCA (p.Ala648GlnfsTer9) c.1218_1219insCA (p.Ala407GlnfsTer9) | gnomAD v4 |
| 11 | g.4138237G>A | CA379186786 | RRM1 | c.2233G>A (p.Ala745Thr) c.*2109G>A (n.*2109G>A) c.*1941G>A (n.*1941G>A) c.*1381G>A (n.*1381G>A) c.1567G>A (p.Ala523Thr) c.1942G>A (p.Ala648Thr) c.1219G>A (p.Ala407Thr) | |
| 11 | g.4138237G>C | CA379186787 | RRM1 | c.2233G>C (p.Ala745Pro) c.*2109G>C (n.*2109G>C) c.*1941G>C (n.*1941G>C) c.*1381G>C (n.*1381G>C) c.1567G>C (p.Ala523Pro) c.1942G>C (p.Ala648Pro) c.1219G>C (p.Ala407Pro) | |
| 11 | g.4138237G>T | CA379186788 | RRM1 | c.2233G>T (p.Ala745Ser) c.*2109G>T (n.*2109G>T) c.*1941G>T (n.*1941G>T) c.*1381G>T (n.*1381G>T) c.1567G>T (p.Ala523Ser) c.1942G>T (p.Ala648Ser) c.1219G>T (p.Ala407Ser) | gnomAD v4 |
| 11 | g.4138238C>A | CA379186789 | RRM1 | c.2234C>A (p.Ala745Asp) c.*2110C>A (n.*2110C>A) c.*1942C>A (n.*1942C>A) c.*1382C>A (n.*1382C>A) c.1568C>A (p.Ala523Asp) c.1943C>A (p.Ala648Asp) c.1220C>A (p.Ala407Asp) | gnomAD v4 |
| 11 | g.4138238C= | CA1948963843 | RRM1 | c.2234C= (p.Ala745=) c.*2110C= (n.*2110C=) c.*1942C= (n.*1942C=) c.*1382C= (n.*1382C=) c.1568C= (p.Ala523=) c.1943C= (p.Ala648=) c.1220C= (p.Ala407=) | |
| 11 | g.4138238C>G | CA379186790 | RRM1 | c.2234C>G (p.Ala745Gly) c.*2110C>G (n.*2110C>G) c.*1942C>G (n.*1942C>G) c.*1382C>G (n.*1382C>G) c.1568C>G (p.Ala523Gly) c.1943C>G (p.Ala648Gly) c.1220C>G (p.Ala407Gly) | |
| 11 | g.4138238C>T | CA5831198 | RRM1 | c.2234C>T (p.Ala745Val) c.*2110C>T (n.*2110C>T) c.*1942C>T (n.*1942C>T) c.*1382C>T (n.*1382C>T) c.1568C>T (p.Ala523Val) c.1943C>T (p.Ala648Val) c.1220C>T (p.Ala407Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.4138239T>A | CA472543033 | RRM1 | c.2235T>A (p.Ala745=) c.*2111T>A (n.*2111T>A) c.*1943T>A (n.*1943T>A) c.*1383T>A (n.*1383T>A) c.1569T>A (p.Ala523=) c.1944T>A (p.Ala648=) c.1221T>A (p.Ala407=) | |
| 11 | g.4138239T>C | CA472543034 | RRM1 | c.2235T>C (p.Ala745=) c.*2111T>C (n.*2111T>C) c.*1943T>C (n.*1943T>C) c.*1383T>C (n.*1383T>C) c.1569T>C (p.Ala523=) c.1944T>C (p.Ala648=) c.1221T>C (p.Ala407=) | |
| 11 | g.4138239T>G | CA472543035 | RRM1 | c.2235T>G (p.Ala745=) c.*2111T>G (n.*2111T>G) c.*1943T>G (n.*1943T>G) c.*1383T>G (n.*1383T>G) c.1569T>G (p.Ala523=) c.1944T>G (p.Ala648=) c.1221T>G (p.Ala407=) | |
| 11 | g.4138240A>C | CA379186791 | RRM1 | c.2236A>C (p.Asn746His) c.*2112A>C (n.*2112A>C) c.*1944A>C (n.*1944A>C) c.*1384A>C (n.*1384A>C) c.1570A>C (p.Asn524His) c.1945A>C (p.Asn649His) c.1222A>C (p.Asn408His) | |
| 11 | g.4138240A>G | CA379186793 | RRM1 | c.2236A>G (p.Asn746Asp) c.*2112A>G (n.*2112A>G) c.*1944A>G (n.*1944A>G) c.*1384A>G (n.*1384A>G) c.1570A>G (p.Asn524Asp) c.1945A>G (p.Asn649Asp) c.1222A>G (p.Asn408Asp) | |
| 11 | g.4138240A>T | CA379186792 | RRM1 | c.2236A>T (p.Asn746Tyr) c.*2112A>T (n.*2112A>T) c.*1944A>T (n.*1944A>T) c.*1384A>T (n.*1384A>T) c.1570A>T (p.Asn524Tyr) c.1945A>T (p.Asn649Tyr) c.1222A>T (p.Asn408Tyr) | |
| 11 | g.4138241del | CA2612115958 | RRM1 | c.2237del (p.Asn746IlefsTer7) c.*2113del (n.*2113del) c.*1945del (n.*1945del) c.*1385del (n.*1385del) c.1571del (p.Asn524IlefsTer7) c.1946del (p.Asn649IlefsTer7) c.1223del (p.Asn408IlefsTer7) | gnomAD v4 |
| 11 | g.4138241A>C | CA379186794 | RRM1 | c.2237A>C (p.Asn746Thr) c.*2113A>C (n.*2113A>C) c.*1945A>C (n.*1945A>C) c.*1385A>C (n.*1385A>C) c.1571A>C (p.Asn524Thr) c.1946A>C (p.Asn649Thr) c.1223A>C (p.Asn408Thr) | |
| 11 | g.4138241A>G | CA379186795 | RRM1 | c.2237A>G (p.Asn746Ser) c.*2113A>G (n.*2113A>G) c.*1945A>G (n.*1945A>G) c.*1385A>G (n.*1385A>G) c.1571A>G (p.Asn524Ser) c.1946A>G (p.Asn649Ser) c.1223A>G (p.Asn408Ser) | |
| 11 | g.4138241A>T | CA379186796 | RRM1 | c.2237A>T (p.Asn746Ile) c.*2113A>T (n.*2113A>T) c.*1945A>T (n.*1945A>T) c.*1385A>T (n.*1385A>T) c.1571A>T (p.Asn524Ile) c.1946A>T (p.Asn649Ile) c.1223A>T (p.Asn408Ile) | |
| 11 | g.4138242T>A | CA379186797 | RRM1 | c.2238T>A (p.Asn746Lys) c.*2114T>A (n.*2114T>A) c.*1946T>A (n.*1946T>A) c.*1386T>A (n.*1386T>A) c.1572T>A (p.Asn524Lys) c.1947T>A (p.Asn649Lys) c.1224T>A (p.Asn408Lys) | |
| 11 | g.4138242T>C | CA472543036 | RRM1 | c.2238T>C (p.Asn746=) c.*2114T>C (n.*2114T>C) c.*1946T>C (n.*1946T>C) c.*1386T>C (n.*1386T>C) c.1572T>C (p.Asn524=) c.1947T>C (p.Asn649=) c.1224T>C (p.Asn408=) | gnomAD v4 |
| 11 | g.4138242T>G | CA379186798 | RRM1 | c.2238T>G (p.Asn746Lys) c.*2114T>G (n.*2114T>G) c.*1946T>G (n.*1946T>G) c.*1386T>G (n.*1386T>G) c.1572T>G (p.Asn524Lys) c.1947T>G (p.Asn649Lys) c.1224T>G (p.Asn408Lys) | |
| 11 | g.4138243C>A | CA379186799 | RRM1 | c.2239C>A (p.Pro747Thr) c.*2115C>A (n.*2115C>A) c.*1947C>A (n.*1947C>A) c.*1387C>A (n.*1387C>A) c.1573C>A (p.Pro525Thr) c.1948C>A (p.Pro650Thr) c.1225C>A (p.Pro409Thr) | gnomAD v4 |
| 11 | g.4138243C>G | CA379186800 | RRM1 | c.2239C>G (p.Pro747Ala) c.*2115C>G (n.*2115C>G) c.*1947C>G (n.*1947C>G) c.*1387C>G (n.*1387C>G) c.1573C>G (p.Pro525Ala) c.1948C>G (p.Pro650Ala) c.1225C>G (p.Pro409Ala) | |
| 11 | g.4138243C>T | CA379186801 | RRM1 | c.2239C>T (p.Pro747Ser) c.*2115C>T (n.*2115C>T) c.*1947C>T (n.*1947C>T) c.*1387C>T (n.*1387C>T) c.1573C>T (p.Pro525Ser) c.1948C>T (p.Pro650Ser) c.1225C>T (p.Pro409Ser) | |
| 11 | g.4138244C>A | CA379186802 | RRM1 | c.2240C>A (p.Pro747Gln) c.*2116C>A (n.*2116C>A) c.*1948C>A (n.*1948C>A) c.*1388C>A (n.*1388C>A) c.1574C>A (p.Pro525Gln) c.1949C>A (p.Pro650Gln) c.1226C>A (p.Pro409Gln) | gnomAD v3 gnomAD v4 |
| 11 | g.4138244C>G | CA379186803 | RRM1 | c.2240C>G (p.Pro747Arg) c.*2116C>G (n.*2116C>G) c.*1948C>G (n.*1948C>G) c.*1388C>G (n.*1388C>G) c.1574C>G (p.Pro525Arg) c.1949C>G (p.Pro650Arg) c.1226C>G (p.Pro409Arg) | |
| 11 | g.4138244C>T | CA379186804 | RRM1 | c.2240C>T (p.Pro747Leu) c.*2116C>T (n.*2116C>T) c.*1948C>T (n.*1948C>T) c.*1388C>T (n.*1388C>T) c.1574C>T (p.Pro525Leu) c.1949C>T (p.Pro650Leu) c.1226C>T (p.Pro409Leu) | COSMIC |
| 11 | g.4138245A>C | CA472543037 | RRM1 | c.2241A>C (p.Pro747=) c.*2117A>C (n.*2117A>C) c.*1949A>C (n.*1949A>C) c.*1389A>C (n.*1389A>C) c.1575A>C (p.Pro525=) c.1950A>C (p.Pro650=) c.1227A>C (p.Pro409=) | |
| 11 | g.4138245A>G | CA472543038 | RRM1 | c.2241A>G (p.Pro747=) c.*2117A>G (n.*2117A>G) c.*1949A>G (n.*1949A>G) c.*1389A>G (n.*1389A>G) c.1575A>G (p.Pro525=) c.1950A>G (p.Pro650=) c.1227A>G (p.Pro409=) | |
| 11 | g.4138245A>T | CA472543039 | RRM1 | c.2241A>T (p.Pro747=) c.*2117A>T (n.*2117A>T) c.*1949A>T (n.*1949A>T) c.*1389A>T (n.*1389A>T) c.1575A>T (p.Pro525=) c.1950A>T (p.Pro650=) c.1227A>T (p.Pro409=) | COSMIC |
| 11 | g.4138246A= | CA1948963851 | RRM1 | c.2242A= (p.Ile748=) c.*2118A= (n.*2118A=) c.*1950A= (n.*1950A=) c.*1390A= (n.*1390A=) c.1576A= (p.Ile526=) c.1951A= (p.Ile651=) c.1228A= (p.Ile410=) | |
| 11 | g.4138246A>C | CA379186806 | RRM1 | c.2242A>C (p.Ile748Leu) c.*2118A>C (n.*2118A>C) c.*1950A>C (n.*1950A>C) c.*1390A>C (n.*1390A>C) c.1576A>C (p.Ile526Leu) c.1951A>C (p.Ile651Leu) c.1228A>C (p.Ile410Leu) | |
| 11 | g.4138246A>G | CA379186807 | RRM1 | c.2242A>G (p.Ile748Val) c.*2118A>G (n.*2118A>G) c.*1950A>G (n.*1950A>G) c.*1390A>G (n.*1390A>G) c.1576A>G (p.Ile526Val) c.1951A>G (p.Ile651Val) c.1228A>G (p.Ile410Val) | dbSNP |
| 11 | g.4138246A>T | CA379186805 | RRM1 | c.2242A>T (p.Ile748Phe) c.*2118A>T (n.*2118A>T) c.*1950A>T (n.*1950A>T) c.*1390A>T (n.*1390A>T) c.1576A>T (p.Ile526Phe) c.1951A>T (p.Ile651Phe) c.1228A>T (p.Ile410Phe) | |
| 11 | g.4138247T>A | CA379186810 | RRM1 | c.2243T>A (p.Ile748Asn) c.*2119T>A (n.*2119T>A) c.*1951T>A (n.*1951T>A) c.*1391T>A (n.*1391T>A) c.1577T>A (p.Ile526Asn) c.1952T>A (p.Ile651Asn) c.1229T>A (p.Ile410Asn) | |
| 11 | g.4138247T>C | CA379186808 | RRM1 | c.2243T>C (p.Ile748Thr) c.*2119T>C (n.*2119T>C) c.*1951T>C (n.*1951T>C) c.*1391T>C (n.*1391T>C) c.1577T>C (p.Ile526Thr) c.1952T>C (p.Ile651Thr) c.1229T>C (p.Ile410Thr) | |
| 11 | g.4138247T>G | CA379186809 | RRM1 | c.2243T>G (p.Ile748Ser) c.*2119T>G (n.*2119T>G) c.*1951T>G (n.*1951T>G) c.*1391T>G (n.*1391T>G) c.1577T>G (p.Ile526Ser) c.1952T>G (p.Ile651Ser) c.1229T>G (p.Ile410Ser) | |
| 11 | g.4138248C>A | CA472543041 | RRM1 | c.2244C>A (p.Ile748=) c.*2120C>A (n.*2120C>A) c.*1952C>A (n.*1952C>A) c.*1392C>A (n.*1392C>A) c.1578C>A (p.Ile526=) c.1953C>A (p.Ile651=) c.1230C>A (p.Ile410=) | dbSNP gnomAD v4 |
| 11 | g.4138248C>G | CA379186811 | RRM1 | c.2244C>G (p.Ile748Met) c.*2120C>G (n.*2120C>G) c.*1952C>G (n.*1952C>G) c.*1392C>G (n.*1392C>G) c.1578C>G (p.Ile526Met) c.1953C>G (p.Ile651Met) c.1230C>G (p.Ile410Met) | |
| 11 | g.4138248C>T | CA472543040 | RRM1 | c.2244C>T (p.Ile748=) c.*2120C>T (n.*2120C>T) c.*1952C>T (n.*1952C>T) c.*1392C>T (n.*1392C>T) c.1578C>T (p.Ile526=) c.1953C>T (p.Ile651=) c.1230C>T (p.Ile410=) | |
| 11 | g.4138249C>A | CA379186812 | RRM1 | c.2245C>A (p.Gln749Lys) c.*2121C>A (n.*2121C>A) c.*1953C>A (n.*1953C>A) c.*1393C>A (n.*1393C>A) c.1579C>A (p.Gln527Lys) c.1954C>A (p.Gln652Lys) c.1231C>A (p.Gln411Lys) | |
| 11 | g.4138249C>G | CA379186813 | RRM1 | c.2245C>G (p.Gln749Glu) c.*2121C>G (n.*2121C>G) c.*1953C>G (n.*1953C>G) c.*1393C>G (n.*1393C>G) c.1579C>G (p.Gln527Glu) c.1954C>G (p.Gln652Glu) c.1231C>G (p.Gln411Glu) | |
| 11 | g.4138249C>T | CA379186814 | RRM1 | c.2245C>T (p.Gln749Ter) c.*2121C>T (n.*2121C>T) c.*1953C>T (n.*1953C>T) c.*1393C>T (n.*1393C>T) c.1579C>T (p.Gln527Ter) c.1954C>T (p.Gln652Ter) c.1231C>T (p.Gln411Ter) | gnomAD v4 |
| 11 | g.4138250A>C | CA379186815 | RRM1 | c.2246A>C (p.Gln749Pro) c.*2122A>C (n.*2122A>C) c.*1954A>C (n.*1954A>C) c.*1394A>C (n.*1394A>C) c.1580A>C (p.Gln527Pro) c.1955A>C (p.Gln652Pro) c.1232A>C (p.Gln411Pro) | |
| 11 | g.4138250A>G | CA379186816 | RRM1 | c.2246A>G (p.Gln749Arg) c.*2122A>G (n.*2122A>G) c.*1954A>G (n.*1954A>G) c.*1394A>G (n.*1394A>G) c.1580A>G (p.Gln527Arg) c.1955A>G (p.Gln652Arg) c.1232A>G (p.Gln411Arg) | |
| 11 | g.4138250A>T | CA379186817 | RRM1 | c.2246A>T (p.Gln749Leu) c.*2122A>T (n.*2122A>T) c.*1954A>T (n.*1954A>T) c.*1394A>T (n.*1394A>T) c.1580A>T (p.Gln527Leu) c.1955A>T (p.Gln652Leu) c.1232A>T (p.Gln411Leu) |