OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.97515767C>A | CA341378246 | DPYD | c.1699G>T (p.Gly567Ter) c.1524+33793G>T (n.1524+33793G>T) c.1588G>T (p.Gly530Ter) c.1204G>T (p.Gly402Ter) | dbSNP |
| 1 | g.97515767C>G | CA341378244 | DPYD | c.1699G>C (p.Gly567Arg) c.1524+33793G>C (n.1524+33793G>C) c.1588G>C (p.Gly530Arg) c.1204G>C (p.Gly402Arg) | |
| 1 | g.97515767C>T | CA341378245 | DPYD | c.1699G>A (p.Gly567Arg) c.1524+33793G>A (n.1524+33793G>A) c.1588G>A (p.Gly530Arg) c.1204G>A (p.Gly402Arg) | dbSNP |
| 1 | g.97515768A= | CA1182902262 | DPYD | c.1698T= (p.Ala566=) c.1524+33792T= (n.1524+33792T=) c.1587T= (p.Ala529=) c.1203T= (p.Ala401=) | |
| 1 | g.97515768A>C | CA419142422 | DPYD | c.1698T>G (p.Ala566=) c.1524+33792T>G (n.1524+33792T>G) c.1587T>G (p.Ala529=) c.1203T>G (p.Ala401=) | |
| 1 | g.97515768A>G | CA419142425 | DPYD | c.1698T>C (p.Ala566=) c.1524+33792T>C (n.1524+33792T>C) c.1587T>C (p.Ala529=) c.1203T>C (p.Ala401=) | |
| 1 | g.97515768A>T | CA419142426 | DPYD | c.1698T>A (p.Ala566=) c.1524+33792T>A (n.1524+33792T>A) c.1587T>A (p.Ala529=) c.1203T>A (p.Ala401=) | dbSNP gnomAD v4 |
| 1 | g.97515769G>A | CA341378247 | DPYD | c.1697C>T (p.Ala566Val) c.1524+33791C>T (n.1524+33791C>T) c.1586C>T (p.Ala529Val) c.1202C>T (p.Ala401Val) | dbSNP gnomAD v4 |
| 1 | g.97515769G>C | CA963271 | DPYD | c.1697C>G (p.Ala566Gly) c.1524+33791C>G (n.1524+33791C>G) c.1586C>G (p.Ala529Gly) c.1202C>G (p.Ala401Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.97515769G= | CA1182902263 | DPYD | c.1697C= (p.Ala566=) c.1524+33791C= (n.1524+33791C=) c.1586C= (p.Ala529=) c.1202C= (p.Ala401=) | |
| 1 | g.97515769G>T | CA341378248 | DPYD | c.1697C>A (p.Ala566Asp) c.1524+33791C>A (n.1524+33791C>A) c.1586C>A (p.Ala529Asp) c.1202C>A (p.Ala401Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.97515770C>A | CA341378249 | DPYD | c.1696G>T (p.Ala566Ser) c.1524+33790G>T (n.1524+33790G>T) c.1585G>T (p.Ala529Ser) c.1201G>T (p.Ala401Ser) | |
| 1 | g.97515770C>G | CA341378250 | DPYD | c.1696G>C (p.Ala566Pro) c.1524+33790G>C (n.1524+33790G>C) c.1585G>C (p.Ala529Pro) c.1201G>C (p.Ala401Pro) | dbSNP |
| 1 | g.97515770C>T | CA341378251 | DPYD | c.1696G>A (p.Ala566Thr) c.1524+33790G>A (n.1524+33790G>A) c.1585G>A (p.Ala529Thr) c.1201G>A (p.Ala401Thr) | dbSNP |
| 1 | g.97515771T>A | CA341378252 | DPYD | c.1695A>T (p.Glu565Asp) c.1524+33789A>T (n.1524+33789A>T) c.1584A>T (p.Glu528Asp) c.1200A>T (p.Glu400Asp) | dbSNP |
| 1 | g.97515771T>C | CA419142442 | DPYD | c.1695A>G (p.Glu565=) c.1524+33789A>G (n.1524+33789A>G) c.1584A>G (p.Glu528=) c.1200A>G (p.Glu400=) | |
| 1 | g.97515771T>G | CA341378253 | DPYD | c.1695A>C (p.Glu565Asp) c.1524+33789A>C (n.1524+33789A>C) c.1584A>C (p.Glu528Asp) c.1200A>C (p.Glu400Asp) | |
| 1 | g.97515772T>A | CA341378254 | DPYD | c.1694A>T (p.Glu565Val) c.1524+33788A>T (n.1524+33788A>T) c.1583A>T (p.Glu528Val) c.1199A>T (p.Glu400Val) | dbSNP |
| 1 | g.97515772T>C | CA341378255 | DPYD | c.1694A>G (p.Glu565Gly) c.1524+33788A>G (n.1524+33788A>G) c.1583A>G (p.Glu528Gly) c.1199A>G (p.Glu400Gly) | |
| 1 | g.97515772T>G | CA341378256 | DPYD | c.1694A>C (p.Glu565Ala) c.1524+33788A>C (n.1524+33788A>C) c.1583A>C (p.Glu528Ala) c.1199A>C (p.Glu400Ala) | |
| 1 | g.97515773C>A | CA341378258 | DPYD | c.1693G>T (p.Glu565Ter) c.1524+33787G>T (n.1524+33787G>T) c.1582G>T (p.Glu528Ter) c.1198G>T (p.Glu400Ter) | |
| 1 | g.97515773C>G | CA341378259 | DPYD | c.1693G>C (p.Glu565Gln) c.1524+33787G>C (n.1524+33787G>C) c.1582G>C (p.Glu528Gln) c.1198G>C (p.Glu400Gln) | dbSNP |
| 1 | g.97515773C>T | CA341378257 | DPYD | c.1693G>A (p.Glu565Lys) c.1524+33787G>A (n.1524+33787G>A) c.1582G>A (p.Glu528Lys) c.1198G>A (p.Glu400Lys) | dbSNP |
| 1 | g.97515774A= | CA1182902264 | DPYD | c.1692T= (p.Phe564=) c.1524+33786T= (n.1524+33786T=) c.1581T= (p.Phe527=) c.1197T= (p.Phe399=) | |
| 1 | g.97515774A>C | CA341378260 | DPYD | c.1692T>G (p.Phe564Leu) c.1524+33786T>G (n.1524+33786T>G) c.1581T>G (p.Phe527Leu) c.1197T>G (p.Phe399Leu) | |
| 1 | g.97515774A>G | CA419142456 | DPYD | c.1692T>C (p.Phe564=) c.1524+33786T>C (n.1524+33786T>C) c.1581T>C (p.Phe527=) c.1197T>C (p.Phe399=) | |
| 1 | g.97515774A>T | CA963272 | DPYD | c.1692T>A (p.Phe564Leu) c.1524+33786T>A (n.1524+33786T>A) c.1581T>A (p.Phe527Leu) c.1197T>A (p.Phe399Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.97515775A>C | CA341378261 | DPYD | c.1691T>G (p.Phe564Cys) c.1524+33785T>G (n.1524+33785T>G) c.1580T>G (p.Phe527Cys) c.1196T>G (p.Phe399Cys) | |
| 1 | g.97515775A>G | CA341378262 | DPYD | c.1691T>C (p.Phe564Ser) c.1524+33785T>C (n.1524+33785T>C) c.1580T>C (p.Phe527Ser) c.1196T>C (p.Phe399Ser) | gnomAD v4 |
| 1 | g.97515775A>T | CA341378263 | DPYD | c.1691T>A (p.Phe564Tyr) c.1524+33785T>A (n.1524+33785T>A) c.1580T>A (p.Phe527Tyr) c.1196T>A (p.Phe399Tyr) | dbSNP |
| 1 | g.97515776A>C | CA341378264 | DPYD | c.1690T>G (p.Phe564Val) c.1524+33784T>G (n.1524+33784T>G) c.1579T>G (p.Phe527Val) c.1195T>G (p.Phe399Val) | gnomAD v4 |
| 1 | g.97515776A>G | CA341378265 | DPYD | c.1690T>C (p.Phe564Leu) c.1524+33784T>C (n.1524+33784T>C) c.1579T>C (p.Phe527Leu) c.1195T>C (p.Phe399Leu) | |
| 1 | g.97515776A>T | CA341378266 | DPYD | c.1690T>A (p.Phe564Ile) c.1524+33784T>A (n.1524+33784T>A) c.1579T>A (p.Phe527Ile) c.1195T>A (p.Phe399Ile) | dbSNP |
| 1 | g.97515777A>C | CA419142467 | DPYD | c.1689T>G (p.Ala563=) c.1524+33783T>G (n.1524+33783T>G) c.1578T>G (p.Ala526=) c.1194T>G (p.Ala398=) | |
| 1 | g.97515777A>G | CA419142469 | DPYD | c.1689T>C (p.Ala563=) c.1524+33783T>C (n.1524+33783T>C) c.1578T>C (p.Ala526=) c.1194T>C (p.Ala398=) | |
| 1 | g.97515777A>T | CA419142471 | DPYD | c.1689T>A (p.Ala563=) c.1524+33783T>A (n.1524+33783T>A) c.1578T>A (p.Ala526=) c.1194T>A (p.Ala398=) | |
| 1 | g.97515778G>A | CA963273 | DPYD | c.1688C>T (p.Ala563Val) c.1524+33782C>T (n.1524+33782C>T) c.1577C>T (p.Ala526Val) c.1193C>T (p.Ala398Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.97515778G>C | CA341378267 | DPYD | c.1688C>G (p.Ala563Gly) c.1524+33782C>G (n.1524+33782C>G) c.1577C>G (p.Ala526Gly) c.1193C>G (p.Ala398Gly) | dbSNP |
| 1 | g.97515778G= | CA1182902265 | DPYD | c.1688C= (p.Ala563=) c.1524+33782C= (n.1524+33782C=) c.1577C= (p.Ala526=) c.1193C= (p.Ala398=) | |
| 1 | g.97515778G>T | CA341378268 | DPYD | c.1688C>A (p.Ala563Asp) c.1524+33782C>A (n.1524+33782C>A) c.1577C>A (p.Ala526Asp) c.1193C>A (p.Ala398Asp) | |
| 1 | g.97515779C>A | CA341378270 | DPYD | c.1687G>T (p.Ala563Ser) c.1524+33781G>T (n.1524+33781G>T) c.1576G>T (p.Ala526Ser) c.1192G>T (p.Ala398Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.97515779C= | CA1182902266 | DPYD | c.1687G= (p.Ala563=) c.1524+33781G= (n.1524+33781G=) c.1576G= (p.Ala526=) c.1192G= (p.Ala398=) | |
| 1 | g.97515779C>G | CA341378271 | DPYD | c.1687G>C (p.Ala563Pro) c.1524+33781G>C (n.1524+33781G>C) c.1576G>C (p.Ala526Pro) c.1192G>C (p.Ala398Pro) | dbSNP gnomAD v4 |
| 1 | g.97515779C>T | CA341378269 | DPYD | c.1687G>A (p.Ala563Thr) c.1524+33781G>A (n.1524+33781G>A) c.1576G>A (p.Ala526Thr) c.1192G>A (p.Ala398Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.97515780T>A | CA963274 | DPYD | c.1686A>T (p.Arg562Ser) c.1524+33780A>T (n.1524+33780A>T) c.1575A>T (p.Arg525Ser) c.1191A>T (p.Arg397Ser) | dbSNP ExAC gnomAD v2 |
| 1 | g.97515780T>C | CA419142481 | DPYD | c.1686A>G (p.Arg562=) c.1524+33780A>G (n.1524+33780A>G) c.1575A>G (p.Arg525=) c.1191A>G (p.Arg397=) | dbSNP |
| 1 | g.97515780T>G | CA341378272 | DPYD | c.1686A>C (p.Arg562Ser) c.1524+33780A>C (n.1524+33780A>C) c.1575A>C (p.Arg525Ser) c.1191A>C (p.Arg397Ser) | |
| 1 | g.97515780T= | CA1182902267 | DPYD | c.1686A= (p.Arg562=) c.1524+33780A= (n.1524+33780A=) c.1575A= (p.Arg525=) c.1191A= (p.Arg397=) | |
| 1 | g.97515781C>A | CA341378273 | DPYD | c.1685G>T (p.Arg562Ile) c.1524+33779G>T (n.1524+33779G>T) c.1574G>T (p.Arg525Ile) c.1190G>T (p.Arg397Ile) | dbSNP |
| 1 | g.97515781C>G | CA341378274 | DPYD | c.1685G>C (p.Arg562Thr) c.1524+33779G>C (n.1524+33779G>C) c.1574G>C (p.Arg525Thr) c.1190G>C (p.Arg397Thr) | dbSNP |
| 1 | g.97515781C>T | CA341378275 | DPYD | c.1685G>A (p.Arg562Lys) c.1524+33779G>A (n.1524+33779G>A) c.1574G>A (p.Arg525Lys) c.1190G>A (p.Arg397Lys) | dbSNP |
| 1 | g.97515782T>A | CA341378277 | DPYD | c.1684A>T (p.Arg562Ter) c.1524+33778A>T (n.1524+33778A>T) c.1573A>T (p.Arg525Ter) c.1189A>T (p.Arg397Ter) | dbSNP |
| 1 | g.97515782T>C | CA341378276 | DPYD | c.1684A>G (p.Arg562Gly) c.1524+33778A>G (n.1524+33778A>G) c.1573A>G (p.Arg525Gly) c.1189A>G (p.Arg397Gly) | COSMIC |
| 1 | g.97515782T>G | CA963275 | DPYD | c.1684A>C (p.Arg562=) c.1524+33778A>C (n.1524+33778A>C) c.1573A>C (p.Arg525=) c.1189A>C (p.Arg397=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97515782T= | CA1182902268 | DPYD | c.1684A= (p.Arg562=) c.1524+33778A= (n.1524+33778A=) c.1573A= (p.Arg525=) c.1189A= (p.Arg397=) | |
| 1 | g.97515783T>A | CA419142495 | DPYD | c.1683A>T (p.Arg561=) c.1524+33777A>T (n.1524+33777A>T) c.1572A>T (p.Arg524=) c.1188A>T (p.Arg396=) | |
| 1 | g.97515783T>C | CA419142497 | DPYD | c.1683A>G (p.Arg561=) c.1524+33777A>G (n.1524+33777A>G) c.1572A>G (p.Arg524=) c.1188A>G (p.Arg396=) | |
| 1 | g.97515783T>G | CA419142498 | DPYD | c.1683A>C (p.Arg561=) c.1524+33777A>C (n.1524+33777A>C) c.1572A>C (p.Arg524=) c.1188A>C (p.Arg396=) | ClinVar dbSNP |
| 1 | g.97515783T= | CA1182902269 | DPYD | c.1683A= (p.Arg561=) c.1524+33777A= (n.1524+33777A=) c.1572A= (p.Arg524=) c.1188A= (p.Arg396=) | |
| 1 | g.97515783_97515784insA | CA2696708418 | DPYD | c.1682_1683insT (p.Arg562LysfsTer4) c.1524+33776_1524+33777insT (n.1524+33776_1524+33777insT) c.1571_1572insT (p.Arg525LysfsTer4) c.1187_1188insT (p.Arg397LysfsTer4) | dbSNP |
| 1 | g.97515784C>A | CA27638110 | DPYD | c.1682G>T (p.Arg561Leu) c.1524+33776G>T (n.1524+33776G>T) c.1571G>T (p.Arg524Leu) c.1187G>T (p.Arg396Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97515784C= | CA1143494439 | DPYD | c.1682G= (p.Arg561=) c.1524+33776G= (n.1524+33776G=) c.1571G= (p.Arg524=) c.1187G= (p.Arg396=) | |
| 1 | g.97515784C>G | CA341378278 | DPYD | c.1682G>C (p.Arg561Pro) c.1524+33776G>C (n.1524+33776G>C) c.1571G>C (p.Arg524Pro) c.1187G>C (p.Arg396Pro) | dbSNP |
| 1 | g.97515784C>T | CA963276 | DPYD | c.1682G>A (p.Arg561Gln) c.1524+33776G>A (n.1524+33776G>A) c.1571G>A (p.Arg524Gln) c.1187G>A (p.Arg396Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.97515785G>A | CA16040802 | DPYD | c.1681C>T (p.Arg561Ter) c.1524+33775C>T (n.1524+33775C>T) c.1570C>T (p.Arg524Ter) c.1186C>T (p.Arg396Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.97515785G>C | CA341378279 | DPYD | c.1681C>G (p.Arg561Gly) c.1524+33775C>G (n.1524+33775C>G) c.1570C>G (p.Arg524Gly) c.1186C>G (p.Arg396Gly) | dbSNP gnomAD v4 |
| 1 | g.97515785G= | CA1182902270 | DPYD | c.1681C= (p.Arg561=) c.1524+33775C= (n.1524+33775C=) c.1570C= (p.Arg524=) c.1186C= (p.Arg396=) | |
| 1 | g.97515785G>T | CA419142506 | DPYD | c.1681C>A (p.Arg561=) c.1524+33775C>A (n.1524+33775C>A) c.1570C>A (p.Arg524=) c.1186C>A (p.Arg396=) | dbSNP gnomAD v4 |
| 1 | g.97515786A= | CA1182902271 | DPYD | c.1680T= (p.Ile560=) c.1524+33774T= (n.1524+33774T=) c.1569T= (p.Ile523=) c.1185T= (p.Ile395=) | |
| 1 | g.97515786A>C | CA341378280 | DPYD | c.1680T>G (p.Ile560Met) c.1524+33774T>G (n.1524+33774T>G) c.1569T>G (p.Ile523Met) c.1185T>G (p.Ile395Met) | |
| 1 | g.97515786A>G | CA419142512 | DPYD | c.1680T>C (p.Ile560=) c.1524+33774T>C (n.1524+33774T>C) c.1569T>C (p.Ile523=) c.1185T>C (p.Ile395=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.97515786A>T | CA419142514 | DPYD | c.1680T>A (p.Ile560=) c.1524+33774T>A (n.1524+33774T>A) c.1569T>A (p.Ile523=) c.1185T>A (p.Ile395=) | dbSNP gnomAD v4 |
| 1 | g.97515787A= | CA1140625293 | DPYD | c.1679T= (p.Ile560=) c.1524+33773T= (n.1524+33773T=) c.1568T= (p.Ile523=) c.1184T= (p.Ile395=) | |
| 1 | g.97515787A>C | CA228118 | DPYD | c.1679T>G (p.Ile560Ser) c.1524+33773T>G (n.1524+33773T>G) c.1568T>G (p.Ile523Ser) c.1184T>G (p.Ile395Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97515787A>G | CA341378281 | DPYD | c.1679T>C (p.Ile560Thr) c.1524+33773T>C (n.1524+33773T>C) c.1568T>C (p.Ile523Thr) c.1184T>C (p.Ile395Thr) | |
| 1 | g.97515787A>T | CA27638125 | DPYD | c.1679T>A (p.Ile560Asn) c.1524+33773T>A (n.1524+33773T>A) c.1568T>A (p.Ile523Asn) c.1184T>A (p.Ile395Asn) | dbSNP |
| 1 | g.97515788T>A | CA341378284 | DPYD | c.1678A>T (p.Ile560Phe) c.1524+33772A>T (n.1524+33772A>T) c.1567A>T (p.Ile523Phe) c.1183A>T (p.Ile395Phe) | dbSNP |
| 1 | g.97515788T>C | CA341378282 | DPYD | c.1678A>G (p.Ile560Val) c.1524+33772A>G (n.1524+33772A>G) c.1567A>G (p.Ile523Val) c.1183A>G (p.Ile395Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.97515788T>G | CA341378283 | DPYD | c.1678A>C (p.Ile560Leu) c.1524+33772A>C (n.1524+33772A>C) c.1567A>C (p.Ile523Leu) c.1183A>C (p.Ile395Leu) | gnomAD v4 |
| 1 | g.97515788T= | CA1182902272 | DPYD | c.1678A= (p.Ile560=) c.1524+33772A= (n.1524+33772A=) c.1567A= (p.Ile523=) c.1183A= (p.Ile395=) | |
| 1 | g.97515789C>A | CA341378285 | DPYD | c.1677G>T (p.Met559Ile) c.1524+33771G>T (n.1524+33771G>T) c.1566G>T (p.Met522Ile) c.1182G>T (p.Met394Ile) | dbSNP |
| 1 | g.97515789C>G | CA341378286 | DPYD | c.1677G>C (p.Met559Ile) c.1524+33771G>C (n.1524+33771G>C) c.1566G>C (p.Met522Ile) c.1182G>C (p.Met394Ile) | dbSNP |
| 1 | g.97515789C>T | CA341378287 | DPYD | c.1677G>A (p.Met559Ile) c.1524+33771G>A (n.1524+33771G>A) c.1566G>A (p.Met522Ile) c.1182G>A (p.Met394Ile) | dbSNP |
| 1 | g.97515790A= | CA1182902273 | DPYD | c.1676T= (p.Met559=) c.1524+33770T= (n.1524+33770T=) c.1565T= (p.Met522=) c.1181T= (p.Met394=) | |
| 1 | g.97515790A>C | CA341378288 | DPYD | c.1676T>G (p.Met559Arg) c.1524+33770T>G (n.1524+33770T>G) c.1565T>G (p.Met522Arg) c.1181T>G (p.Met394Arg) | dbSNP |
| 1 | g.97515790A>G | CA341378289 | DPYD | c.1676T>C (p.Met559Thr) c.1524+33770T>C (n.1524+33770T>C) c.1565T>C (p.Met522Thr) c.1181T>C (p.Met394Thr) | dbSNP |
| 1 | g.97515790A>T | CA341378290 | DPYD | c.1676T>A (p.Met559Lys) c.1524+33770T>A (n.1524+33770T>A) c.1565T>A (p.Met522Lys) c.1181T>A (p.Met394Lys) | dbSNP |
| 1 | g.97515791T>A | CA341378291 | DPYD | c.1675A>T (p.Met559Leu) c.1524+33769A>T (n.1524+33769A>T) c.1564A>T (p.Met522Leu) c.1180A>T (p.Met394Leu) | |
| 1 | g.97515791T>C | CA963277 | DPYD | c.1675A>G (p.Met559Val) c.1524+33769A>G (n.1524+33769A>G) c.1564A>G (p.Met522Val) c.1180A>G (p.Met394Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.97515791T>G | CA341378292 | DPYD | c.1675A>C (p.Met559Leu) c.1524+33769A>C (n.1524+33769A>C) c.1564A>C (p.Met522Leu) c.1180A>C (p.Met394Leu) | |
| 1 | g.97515791T= | CA1182902274 | DPYD | c.1675A= (p.Met559=) c.1524+33769A= (n.1524+33769A=) c.1564A= (p.Met522=) c.1180A= (p.Met394=) | |
| 1 | g.97515792T>A | CA419142537 | DPYD | c.1674A>T (p.Ser558=) c.1524+33768A>T (n.1524+33768A>T) c.1563A>T (p.Ser521=) c.1179A>T (p.Ser393=) | dbSNP |
| 1 | g.97515792T>C | CA419142539 | DPYD | c.1674A>G (p.Ser558=) c.1524+33768A>G (n.1524+33768A>G) c.1563A>G (p.Ser521=) c.1179A>G (p.Ser393=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.97515792T>G | CA419142541 | DPYD | c.1674A>C (p.Ser558=) c.1524+33768A>C (n.1524+33768A>C) c.1563A>C (p.Ser521=) c.1179A>C (p.Ser393=) | |
| 1 | g.97515792T= | CA1182902275 | DPYD | c.1674A= (p.Ser558=) c.1524+33768A= (n.1524+33768A=) c.1563A= (p.Ser521=) c.1179A= (p.Ser393=) | |
| 1 | g.97515793G>A | CA341378295 | DPYD | c.1673C>T (p.Ser558Leu) c.1524+33767C>T (n.1524+33767C>T) c.1562C>T (p.Ser521Leu) c.1178C>T (p.Ser393Leu) | dbSNP |
| 1 | g.97515793G>C | CA341378294 | DPYD | c.1673C>G (p.Ser558Ter) c.1524+33767C>G (n.1524+33767C>G) c.1562C>G (p.Ser521Ter) c.1178C>G (p.Ser393Ter) | dbSNP |
| 1 | g.97515793G>T | CA341378293 | DPYD | c.1673C>A (p.Ser558Ter) c.1524+33767C>A (n.1524+33767C>A) c.1562C>A (p.Ser521Ter) c.1178C>A (p.Ser393Ter) | dbSNP |
| 1 | g.97515794A>C | CA341378296 | DPYD | c.1672T>G (p.Ser558Ala) c.1524+33766T>G (n.1524+33766T>G) c.1561T>G (p.Ser521Ala) c.1177T>G (p.Ser393Ala) | gnomAD v3 gnomAD v4 |
| 1 | g.97515794A>G | CA341378297 | DPYD | c.1672T>C (p.Ser558Pro) c.1524+33766T>C (n.1524+33766T>C) c.1561T>C (p.Ser521Pro) c.1177T>C (p.Ser393Pro) | |
| 1 | g.97515794A>T | CA341378298 | DPYD | c.1672T>A (p.Ser558Thr) c.1524+33766T>A (n.1524+33766T>A) c.1561T>A (p.Ser521Thr) c.1177T>A (p.Ser393Thr) | dbSNP |
| 1 | g.97515794_97515795delinsAT | CA1182902276 | DPYD | c.1671_1672delinsAT (p.Thr557=) c.1524+33765_1524+33766delinsAT (n.1524+33765_1524+33766delinsAT) c.1560_1561delinsAT (p.Thr520=) c.1176_1177delinsAT (p.Thr392=) | |
| 1 | g.97515795del | CA16040803 | DPYD | c.1671del (p.Ser558GlnfsTer2) c.1524+33765del (n.1524+33765del) c.1560del (p.Ser521GlnfsTer2) c.1176del (p.Ser393GlnfsTer2) | ClinVar dbSNP |
| 1 | g.97515795T>A | CA419142555 | DPYD | c.1671A>T (p.Thr557=) c.1524+33765A>T (n.1524+33765A>T) c.1560A>T (p.Thr520=) c.1176A>T (p.Thr392=) | gnomAD v4 |
| 1 | g.97515795T>C | CA963278 | DPYD | c.1671A>G (p.Thr557=) c.1524+33765A>G (n.1524+33765A>G) c.1560A>G (p.Thr520=) c.1176A>G (p.Thr392=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.97515795T>G | CA419142553 | DPYD | c.1671A>C (p.Thr557=) c.1524+33765A>C (n.1524+33765A>C) c.1560A>C (p.Thr520=) c.1176A>C (p.Thr392=) | gnomAD v4 |
| 1 | g.97515795T= | CA1182902277 | DPYD | c.1671A= (p.Thr557=) c.1524+33765A= (n.1524+33765A=) c.1560A= (p.Thr520=) c.1176A= (p.Thr392=) | |
| 1 | g.97515796G>A | CA963279 | DPYD | c.1670C>T (p.Thr557Ile) c.1524+33764C>T (n.1524+33764C>T) c.1559C>T (p.Thr520Ile) c.1175C>T (p.Thr392Ile) | ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.97515796G>C | CA341378299 | DPYD | c.1670C>G (p.Thr557Arg) c.1524+33764C>G (n.1524+33764C>G) c.1559C>G (p.Thr520Arg) c.1175C>G (p.Thr392Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.97515796G= | CA1182902278 | DPYD | c.1670C= (p.Thr557=) c.1524+33764C= (n.1524+33764C=) c.1559C= (p.Thr520=) c.1175C= (p.Thr392=) | |
| 1 | g.97515796G>T | CA27638138 | DPYD | c.1670C>A (p.Thr557Lys) c.1524+33764C>A (n.1524+33764C>A) c.1559C>A (p.Thr520Lys) c.1175C>A (p.Thr392Lys) | dbSNP gnomAD v4 |
| 1 | g.97515797T>A | CA341378300 | DPYD | c.1669A>T (p.Thr557Ser) c.1524+33763A>T (n.1524+33763A>T) c.1558A>T (p.Thr520Ser) c.1174A>T (p.Thr392Ser) | |
| 1 | g.97515797T>C | CA341378301 | DPYD | c.1669A>G (p.Thr557Ala) c.1524+33763A>G (n.1524+33763A>G) c.1558A>G (p.Thr520Ala) c.1174A>G (p.Thr392Ala) | |
| 1 | g.97515797T>G | CA341378302 | DPYD | c.1669A>C (p.Thr557Pro) c.1524+33763A>C (n.1524+33763A>C) c.1558A>C (p.Thr520Pro) c.1174A>C (p.Thr392Pro) | gnomAD v4 |
| 1 | g.97515799_97515801dup | CA2646705842 | DPYD | c.1667_1669dup (p.Ser556_Thr557insSer) c.1524+33761_1524+33763dup (n.1524+33761_1524+33763dup) c.1556_1558dup (p.Ser519_Thr520insSer) c.1172_1174dup (p.Ser391_Thr392insSer) | gnomAD v4 |
| 1 | g.97515798G>A | CA419142571 | DPYD | c.1668C>T (p.Ser556=) c.1524+33762C>T (n.1524+33762C>T) c.1557C>T (p.Ser519=) c.1173C>T (p.Ser391=) | dbSNP gnomAD v4 |
| 1 | g.97515798G>C | CA341378303 | DPYD | c.1668C>G (p.Ser556Arg) c.1524+33762C>G (n.1524+33762C>G) c.1557C>G (p.Ser519Arg) c.1173C>G (p.Ser391Arg) | |
| 1 | g.97515798G>T | CA341378304 | DPYD | c.1668C>A (p.Ser556Arg) c.1524+33762C>A (n.1524+33762C>A) c.1557C>A (p.Ser519Arg) c.1173C>A (p.Ser391Arg) | |
| 1 | g.97515799C>A | CA341378306 | DPYD | c.1667G>T (p.Ser556Ile) c.1524+33761G>T (n.1524+33761G>T) c.1556G>T (p.Ser519Ile) c.1172G>T (p.Ser391Ile) | dbSNP |
| 1 | g.97515799C= | CA1182902279 | DPYD | c.1667G= (p.Ser556=) c.1524+33761G= (n.1524+33761G=) c.1556G= (p.Ser519=) c.1172G= (p.Ser391=) | |
| 1 | g.97515799C>G | CA341378307 | DPYD | c.1667G>C (p.Ser556Thr) c.1524+33761G>C (n.1524+33761G>C) c.1556G>C (p.Ser519Thr) c.1172G>C (p.Ser391Thr) | dbSNP |
| 1 | g.97515799C>T | CA341378305 | DPYD | c.1667G>A (p.Ser556Asn) c.1524+33761G>A (n.1524+33761G>A) c.1556G>A (p.Ser519Asn) c.1172G>A (p.Ser391Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.97515800T>A | CA341378308 | DPYD | c.1666A>T (p.Ser556Cys) c.1524+33760A>T (n.1524+33760A>T) c.1555A>T (p.Ser519Cys) c.1171A>T (p.Ser391Cys) | |
| 1 | g.97515800T>C | CA341378309 | DPYD | c.1666A>G (p.Ser556Gly) c.1524+33760A>G (n.1524+33760A>G) c.1555A>G (p.Ser519Gly) c.1171A>G (p.Ser391Gly) | dbSNP |
| 1 | g.97515800T>G | CA963280 | DPYD | c.1666A>C (p.Ser556Arg) c.1524+33760A>C (n.1524+33760A>C) c.1555A>C (p.Ser519Arg) c.1171A>C (p.Ser391Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97515800T= | CA1182902280 | DPYD | c.1666A= (p.Ser556=) c.1524+33760A= (n.1524+33760A=) c.1555A= (p.Ser519=) c.1171A= (p.Ser391=) | |
| 1 | g.97515801G>A | CA419142582 | DPYD | c.1665C>T (p.Thr555=) c.1524+33759C>T (n.1524+33759C>T) c.1554C>T (p.Thr518=) c.1170C>T (p.Thr390=) | dbSNP |
| 1 | g.97515801G>C | CA419142586 | DPYD | c.1665C>G (p.Thr555=) c.1524+33759C>G (n.1524+33759C>G) c.1554C>G (p.Thr518=) c.1170C>G (p.Thr390=) | |
| 1 | g.97515801G>T | CA419142584 | DPYD | c.1665C>A (p.Thr555=) c.1524+33759C>A (n.1524+33759C>A) c.1554C>A (p.Thr518=) c.1170C>A (p.Thr390=) | gnomAD v4 |
| 1 | g.97515802del | CA2696709061 | DPYD | c.1665del (p.Ser556AlafsTer4) c.1524+33759del (n.1524+33759del) c.1554del (p.Ser519AlafsTer4) c.1170del (p.Ser391AlafsTer4) | dbSNP |
| 1 | g.97515802G>A | CA341378310 | DPYD | c.1664C>T (p.Thr555Ile) c.1524+33758C>T (n.1524+33758C>T) c.1553C>T (p.Thr518Ile) c.1169C>T (p.Thr390Ile) | dbSNP |
| 1 | g.97515802G>C | CA341378311 | DPYD | c.1664C>G (p.Thr555Ser) c.1524+33758C>G (n.1524+33758C>G) c.1553C>G (p.Thr518Ser) c.1169C>G (p.Thr390Ser) | dbSNP gnomAD v4 |
| 1 | g.97515802G>T | CA341378312 | DPYD | c.1664C>A (p.Thr555Asn) c.1524+33758C>A (n.1524+33758C>A) c.1553C>A (p.Thr518Asn) c.1169C>A (p.Thr390Asn) | gnomAD v4 |
| 1 | g.97515803T>A | CA341378313 | DPYD | c.1663A>T (p.Thr555Ser) c.1524+33757A>T (n.1524+33757A>T) c.1552A>T (p.Thr518Ser) c.1168A>T (p.Thr390Ser) | |
| 1 | g.97515803T>C | CA341378314 | DPYD | c.1663A>G (p.Thr555Ala) c.1524+33757A>G (n.1524+33757A>G) c.1552A>G (p.Thr518Ala) c.1168A>G (p.Thr390Ala) | gnomAD v4 |
| 1 | g.97515803T>G | CA341378315 | DPYD | c.1663A>C (p.Thr555Pro) c.1524+33757A>C (n.1524+33757A>C) c.1552A>C (p.Thr518Pro) c.1168A>C (p.Thr390Pro) | |
| 1 | g.97515804G>A | CA963281 | DPYD | c.1662C>T (p.Ala554=) c.1524+33756C>T (n.1524+33756C>T) c.1551C>T (p.Ala517=) c.1167C>T (p.Ala389=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.97515804G>C | CA419142597 | DPYD | c.1662C>G (p.Ala554=) c.1524+33756C>G (n.1524+33756C>G) c.1551C>G (p.Ala517=) c.1167C>G (p.Ala389=) | dbSNP |
| 1 | g.97515804G= | CA1182902281 | DPYD | c.1662C= (p.Ala554=) c.1524+33756C= (n.1524+33756C=) c.1551C= (p.Ala517=) c.1167C= (p.Ala389=) | |
| 1 | g.97515804G>T | CA419142599 | DPYD | c.1662C>A (p.Ala554=) c.1524+33756C>A (n.1524+33756C>A) c.1551C>A (p.Ala517=) c.1167C>A (p.Ala389=) | |
| 1 | g.97515805G>A | CA341378316 | DPYD | c.1661C>T (p.Ala554Val) c.1524+33755C>T (n.1524+33755C>T) c.1550C>T (p.Ala517Val) c.1166C>T (p.Ala389Val) | dbSNP |
| 1 | g.97515805G>C | CA341378317 | DPYD | c.1661C>G (p.Ala554Gly) c.1524+33755C>G (n.1524+33755C>G) c.1550C>G (p.Ala517Gly) c.1166C>G (p.Ala389Gly) | dbSNP |
| 1 | g.97515805G>T | CA341378318 | DPYD | c.1661C>A (p.Ala554Asp) c.1524+33755C>A (n.1524+33755C>A) c.1550C>A (p.Ala517Asp) c.1166C>A (p.Ala389Asp) | dbSNP |
| 1 | g.97515806C>A | CA341378320 | DPYD | c.1660G>T (p.Ala554Ser) c.1524+33754G>T (n.1524+33754G>T) c.1549G>T (p.Ala517Ser) c.1165G>T (p.Ala389Ser) | dbSNP |
| 1 | g.97515806C>G | CA341378321 | DPYD | c.1660G>C (p.Ala554Pro) c.1524+33754G>C (n.1524+33754G>C) c.1549G>C (p.Ala517Pro) c.1165G>C (p.Ala389Pro) | dbSNP |
| 1 | g.97515806C>T | CA341378319 | DPYD | c.1660G>A (p.Ala554Thr) c.1524+33754G>A (n.1524+33754G>A) c.1549G>A (p.Ala517Thr) c.1165G>A (p.Ala389Thr) | dbSNP |
| 1 | g.97515807T>A | CA419142611 | DPYD | c.1659A>T (p.Pro553=) c.1524+33753A>T (n.1524+33753A>T) c.1548A>T (p.Pro516=) c.1164A>T (p.Pro388=) | |
| 1 | g.97515807T>C | CA419142613 | DPYD | c.1659A>G (p.Pro553=) c.1524+33753A>G (n.1524+33753A>G) c.1548A>G (p.Pro516=) c.1164A>G (p.Pro388=) | dbSNP COSMIC |
| 1 | g.97515807T>G | CA419142615 | DPYD | c.1659A>C (p.Pro553=) c.1524+33753A>C (n.1524+33753A>C) c.1548A>C (p.Pro516=) c.1164A>C (p.Pro388=) | |
| 1 | g.97515808G>A | CA963282 | DPYD | c.1658C>T (p.Pro553Leu) c.1524+33752C>T (n.1524+33752C>T) c.1547C>T (p.Pro516Leu) c.1163C>T (p.Pro388Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.97515808G>C | CA341378322 | DPYD | c.1658C>G (p.Pro553Arg) c.1524+33752C>G (n.1524+33752C>G) c.1547C>G (p.Pro516Arg) c.1163C>G (p.Pro388Arg) | COSMIC |
| 1 | g.97515808G= | CA1148567850 | DPYD | c.1658C= (p.Pro553=) c.1524+33752C= (n.1524+33752C=) c.1547C= (p.Pro516=) c.1163C= (p.Pro388=) | |
| 1 | g.97515808G>T | CA341378323 | DPYD | c.1658C>A (p.Pro553Gln) c.1524+33752C>A (n.1524+33752C>A) c.1547C>A (p.Pro516Gln) c.1163C>A (p.Pro388Gln) | |
| 1 | g.97515809G>A | CA341378324 | DPYD | c.1657C>T (p.Pro553Ser) c.1524+33751C>T (n.1524+33751C>T) c.1546C>T (p.Pro516Ser) c.1162C>T (p.Pro388Ser) | dbSNP |
| 1 | g.97515809G>C | CA341378325 | DPYD | c.1657C>G (p.Pro553Ala) c.1524+33751C>G (n.1524+33751C>G) c.1546C>G (p.Pro516Ala) c.1162C>G (p.Pro388Ala) | dbSNP gnomAD v4 COSMIC |
| 1 | g.97515809G>T | CA341378326 | DPYD | c.1657C>A (p.Pro553Thr) c.1524+33751C>A (n.1524+33751C>A) c.1546C>A (p.Pro516Thr) c.1162C>A (p.Pro388Thr) | |
| 1 | g.97515809_97515810insCA | CA2646705843 | DPYD | c.1656_1657insTG (p.Pro553CysfsTer8) c.1524+33750_1524+33751insTG (n.1524+33750_1524+33751insTG) c.1545_1546insTG (p.Pro516CysfsTer8) c.1161_1162insTG (p.Pro388CysfsTer8) | gnomAD v4 |
| 1 | g.97515810del | CA2646705844 | DPYD | c.1656del (p.Pro553GlnfsTer7) c.1524+33750del (n.1524+33750del) c.1545del (p.Pro516GlnfsTer7) c.1161del (p.Pro388GlnfsTer7) | gnomAD v4 |
| 1 | g.97515810A= | CA1182902282 | DPYD | c.1656T= (p.Thr552=) c.1524+33750T= (n.1524+33750T=) c.1545T= (p.Thr515=) c.1161T= (p.Thr387=) | |
| 1 | g.97515810A>C | CA419142627 | DPYD | c.1656T>G (p.Thr552=) c.1524+33750T>G (n.1524+33750T>G) c.1545T>G (p.Thr515=) c.1161T>G (p.Thr387=) | |
| 1 | g.97515810A>G | CA419142629 | DPYD | c.1656T>C (p.Thr552=) c.1524+33750T>C (n.1524+33750T>C) c.1545T>C (p.Thr515=) c.1161T>C (p.Thr387=) | dbSNP |
| 1 | g.97515810A>T | CA419142631 | DPYD | c.1656T>A (p.Thr552=) c.1524+33750T>A (n.1524+33750T>A) c.1545T>A (p.Thr515=) c.1161T>A (p.Thr387=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.97515811G>A | CA341378329 | DPYD | c.1655C>T (p.Thr552Ile) c.1524+33749C>T (n.1524+33749C>T) c.1544C>T (p.Thr515Ile) c.1160C>T (p.Thr387Ile) | dbSNP |
| 1 | g.97515811G>C | CA341378327 | DPYD | c.1655C>G (p.Thr552Ser) c.1524+33749C>G (n.1524+33749C>G) c.1544C>G (p.Thr515Ser) c.1160C>G (p.Thr387Ser) | dbSNP |
| 1 | g.97515811G>T | CA341378328 | DPYD | c.1655C>A (p.Thr552Asn) c.1524+33749C>A (n.1524+33749C>A) c.1544C>A (p.Thr515Asn) c.1160C>A (p.Thr387Asn) | |
| 1 | g.97515812T>A | CA341378330 | DPYD | c.1654A>T (p.Thr552Ser) c.1524+33748A>T (n.1524+33748A>T) c.1543A>T (p.Thr515Ser) c.1159A>T (p.Thr387Ser) | dbSNP |
| 1 | g.97515812T>C | CA963283 | DPYD | c.1654A>G (p.Thr552Ala) c.1524+33748A>G (n.1524+33748A>G) c.1543A>G (p.Thr515Ala) c.1159A>G (p.Thr387Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.97515812T>G | CA341378331 | DPYD | c.1654A>C (p.Thr552Pro) c.1524+33748A>C (n.1524+33748A>C) c.1543A>C (p.Thr515Pro) c.1159A>C (p.Thr387Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97515812T= | CA1182902283 | DPYD | c.1654A= (p.Thr552=) c.1524+33748A= (n.1524+33748A=) c.1543A= (p.Thr515=) c.1159A= (p.Thr387=) | |
| 1 | g.97515813T>A | CA419142642 | DPYD | c.1653A>T (p.Ala551=) c.1524+33747A>T (n.1524+33747A>T) c.1542A>T (p.Ala514=) c.1158A>T (p.Ala386=) | |
| 1 | g.97515813T>C | CA419142644 | DPYD | c.1653A>G (p.Ala551=) c.1524+33747A>G (n.1524+33747A>G) c.1542A>G (p.Ala514=) c.1158A>G (p.Ala386=) | |
| 1 | g.97515813T>G | CA419142646 | DPYD | c.1653A>C (p.Ala551=) c.1524+33747A>C (n.1524+33747A>C) c.1542A>C (p.Ala514=) c.1158A>C (p.Ala386=) | |
| 1 | g.97515814G>A | CA341378332 | DPYD | c.1652C>T (p.Ala551Val) c.1524+33746C>T (n.1524+33746C>T) c.1541C>T (p.Ala514Val) c.1157C>T (p.Ala386Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.97515814G>C | CA341378333 | DPYD | c.1652C>G (p.Ala551Gly) c.1524+33746C>G (n.1524+33746C>G) c.1541C>G (p.Ala514Gly) c.1157C>G (p.Ala386Gly) | dbSNP |
| 1 | g.97515814G= | CA1182902284 | DPYD | c.1652C= (p.Ala551=) c.1524+33746C= (n.1524+33746C=) c.1541C= (p.Ala514=) c.1157C= (p.Ala386=) | |
| 1 | g.97515814G>T | CA341378334 | DPYD | c.1652C>A (p.Ala551Glu) c.1524+33746C>A (n.1524+33746C>A) c.1541C>A (p.Ala514Glu) c.1157C>A (p.Ala386Glu) | |
| 1 | g.97515815C>A | CA963285 | DPYD | c.1651G>T (p.Ala551Ser) c.1524+33745G>T (n.1524+33745G>T) c.1540G>T (p.Ala514Ser) c.1156G>T (p.Ala386Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.97515815C= | CA1182902285 | DPYD | c.1651G= (p.Ala551=) c.1524+33745G= (n.1524+33745G=) c.1540G= (p.Ala514=) c.1156G= (p.Ala386=) | |
| 1 | g.97515815C>G | CA341378335 | DPYD | c.1651G>C (p.Ala551Pro) c.1524+33745G>C (n.1524+33745G>C) c.1540G>C (p.Ala514Pro) c.1156G>C (p.Ala386Pro) | dbSNP |
| 1 | g.97515815C>T | CA963284 | DPYD | c.1651G>A (p.Ala551Thr) c.1524+33745G>A (n.1524+33745G>A) c.1540G>A (p.Ala514Thr) c.1156G>A (p.Ala386Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.97515816G>A | CA963286 | DPYD | c.1650C>T (p.Ser550=) c.1524+33744C>T (n.1524+33744C>T) c.1539C>T (p.Ser513=) c.1155C>T (p.Ser385=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97515816G>C | CA341378336 | DPYD | c.1650C>G (p.Ser550Arg) c.1524+33744C>G (n.1524+33744C>G) c.1539C>G (p.Ser513Arg) c.1155C>G (p.Ser385Arg) | dbSNP gnomAD v4 |
| 1 | g.97515816G= | CA1142281843 | DPYD | c.1650C= (p.Ser550=) c.1524+33744C= (n.1524+33744C=) c.1539C= (p.Ser513=) c.1155C= (p.Ser385=) | |
| 1 | g.97515816G>T | CA341378337 | DPYD | c.1650C>A (p.Ser550Arg) c.1524+33744C>A (n.1524+33744C>A) c.1539C>A (p.Ser513Arg) c.1155C>A (p.Ser385Arg) | dbSNP gnomAD v2 |
| 1 | g.97515817C>A | CA341378338 | DPYD | c.1649G>T (p.Ser550Ile) c.1524+33743G>T (n.1524+33743G>T) c.1538G>T (p.Ser513Ile) c.1154G>T (p.Ser385Ile) | dbSNP |
| 1 | g.97515817C= | CA1182902286 | DPYD | c.1649G= (p.Ser550=) c.1524+33743G= (n.1524+33743G=) c.1538G= (p.Ser513=) c.1154G= (p.Ser385=) | |
| 1 | g.97515817C>G | CA341378340 | DPYD | c.1649G>C (p.Ser550Thr) c.1524+33743G>C (n.1524+33743G>C) c.1538G>C (p.Ser513Thr) c.1154G>C (p.Ser385Thr) | dbSNP |
| 1 | g.97515817C>T | CA341378339 | DPYD | c.1649G>A (p.Ser550Asn) c.1524+33743G>A (n.1524+33743G>A) c.1538G>A (p.Ser513Asn) c.1154G>A (p.Ser385Asn) | |
| 1 | g.97515818T>A | CA341378341 | DPYD | c.1648A>T (p.Ser550Cys) c.1524+33742A>T (n.1524+33742A>T) c.1537A>T (p.Ser513Cys) c.1153A>T (p.Ser385Cys) | dbSNP |
| 1 | g.97515818T>C | CA341378342 | DPYD | c.1648A>G (p.Ser550Gly) c.1524+33742A>G (n.1524+33742A>G) c.1537A>G (p.Ser513Gly) c.1153A>G (p.Ser385Gly) | |
| 1 | g.97515818T>G | CA341378343 | DPYD | c.1648A>C (p.Ser550Arg) c.1524+33742A>C (n.1524+33742A>C) c.1537A>C (p.Ser513Arg) c.1153A>C (p.Ser385Arg) | |
| 1 | g.97515819A>C | CA419142672 | DPYD | c.1647T>G (p.Ala549=) c.1524+33741T>G (n.1524+33741T>G) c.1536T>G (p.Ala512=) c.1152T>G (p.Ala384=) | |
| 1 | g.97515819A>G | CA419142674 | DPYD | c.1647T>C (p.Ala549=) c.1524+33741T>C (n.1524+33741T>C) c.1536T>C (p.Ala512=) c.1152T>C (p.Ala384=) | gnomAD v4 |
| 1 | g.97515819A>T | CA419142675 | DPYD | c.1647T>A (p.Ala549=) c.1524+33741T>A (n.1524+33741T>A) c.1536T>A (p.Ala512=) c.1152T>A (p.Ala384=) | |
| 1 | g.97515820G>A | CA341378344 | DPYD | c.1646C>T (p.Ala549Val) c.1524+33740C>T (n.1524+33740C>T) c.1535C>T (p.Ala512Val) c.1151C>T (p.Ala384Val) | dbSNP |
| 1 | g.97515820G>C | CA341378345 | DPYD | c.1646C>G (p.Ala549Gly) c.1524+33740C>G (n.1524+33740C>G) c.1535C>G (p.Ala512Gly) c.1151C>G (p.Ala384Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.97515820G= | CA1182902287 | DPYD | c.1646C= (p.Ala549=) c.1524+33740C= (n.1524+33740C=) c.1535C= (p.Ala512=) c.1151C= (p.Ala384=) | |
| 1 | g.97515820G>T | CA341378346 | DPYD | c.1646C>A (p.Ala549Asp) c.1524+33740C>A (n.1524+33740C>A) c.1535C>A (p.Ala512Asp) c.1151C>A (p.Ala384Asp) | |
| 1 | g.97515821C>A | CA341378347 | DPYD | c.1645G>T (p.Ala549Ser) c.1524+33739G>T (n.1524+33739G>T) c.1534G>T (p.Ala512Ser) c.1150G>T (p.Ala384Ser) | |
| 1 | g.97515821C= | CA1141717946 | DPYD | c.1645G= (p.Ala549=) c.1524+33739G= (n.1524+33739G=) c.1534G= (p.Ala512=) c.1150G= (p.Ala384=) | |
| 1 | g.97515821C>G | CA963287 | DPYD | c.1645G>C (p.Ala549Pro) c.1524+33739G>C (n.1524+33739G>C) c.1534G>C (p.Ala512Pro) c.1150G>C (p.Ala384Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97515821C>T | CA341378348 | DPYD | c.1645G>A (p.Ala549Thr) c.1524+33739G>A (n.1524+33739G>A) c.1534G>A (p.Ala512Thr) c.1150G>A (p.Ala384Thr) | |
| 1 | g.97515822A>C | CA419142691 | DPYD | c.1644T>G (p.Leu548=) c.1524+33738T>G (n.1524+33738T>G) c.1533T>G (p.Leu511=) c.1149T>G (p.Leu383=) | |
| 1 | g.97515822A>G | CA419142688 | DPYD | c.1644T>C (p.Leu548=) c.1524+33738T>C (n.1524+33738T>C) c.1533T>C (p.Leu511=) c.1149T>C (p.Leu383=) | |
| 1 | g.97515822A>T | CA419142689 | DPYD | c.1644T>A (p.Leu548=) c.1524+33738T>A (n.1524+33738T>A) c.1533T>A (p.Leu511=) c.1149T>A (p.Leu383=) | |
| 1 | g.97515823A= | CA1182902288 | DPYD | c.1643T= (p.Leu548=) c.1524+33737T= (n.1524+33737T=) c.1532T= (p.Leu511=) c.1148T= (p.Leu383=) | |
| 1 | g.97515823A>C | CA341378349 | DPYD | c.1643T>G (p.Leu548Arg) c.1524+33737T>G (n.1524+33737T>G) c.1532T>G (p.Leu511Arg) c.1148T>G (p.Leu383Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97515823A>G | CA341378350 | DPYD | c.1643T>C (p.Leu548Pro) c.1524+33737T>C (n.1524+33737T>C) c.1532T>C (p.Leu511Pro) c.1148T>C (p.Leu383Pro) | |
| 1 | g.97515823A>T | CA341378351 | DPYD | c.1643T>A (p.Leu548His) c.1524+33737T>A (n.1524+33737T>A) c.1532T>A (p.Leu511His) c.1148T>A (p.Leu383His) | |
| 1 | g.97515824G>A | CA341378354 | DPYD | c.1642C>T (p.Leu548Phe) c.1524+33736C>T (n.1524+33736C>T) c.1531C>T (p.Leu511Phe) c.1147C>T (p.Leu383Phe) | dbSNP |
| 1 | g.97515824G>C | CA341378352 | DPYD | c.1642C>G (p.Leu548Val) c.1524+33736C>G (n.1524+33736C>G) c.1531C>G (p.Leu511Val) c.1147C>G (p.Leu383Val) | dbSNP |
| 1 | g.97515824G>T | CA341378353 | DPYD | c.1642C>A (p.Leu548Ile) c.1524+33736C>A (n.1524+33736C>A) c.1531C>A (p.Leu511Ile) c.1147C>A (p.Leu383Ile) | |
| 1 | g.97515825A>C | CA419142702 | DPYD | c.1641T>G (p.Gly547=) c.1524+33735T>G (n.1524+33735T>G) c.1530T>G (p.Gly510=) c.1146T>G (p.Gly382=) | |
| 1 | g.97515825A>G | CA419142704 | DPYD | c.1641T>C (p.Gly547=) c.1524+33735T>C (n.1524+33735T>C) c.1530T>C (p.Gly510=) c.1146T>C (p.Gly382=) | |
| 1 | g.97515825A>T | CA419142706 | DPYD | c.1641T>A (p.Gly547=) c.1524+33735T>A (n.1524+33735T>A) c.1530T>A (p.Gly510=) c.1146T>A (p.Gly382=) | |
| 1 | g.97515826C>A | CA341378355 | DPYD | c.1640G>T (p.Gly547Val) c.1524+33734G>T (n.1524+33734G>T) c.1529G>T (p.Gly510Val) c.1145G>T (p.Gly382Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.97515826C= | CA1182902289 | DPYD | c.1640G= (p.Gly547=) c.1524+33734G= (n.1524+33734G=) c.1529G= (p.Gly510=) c.1145G= (p.Gly382=) | |
| 1 | g.97515826C>G | CA341378356 | DPYD | c.1640G>C (p.Gly547Ala) c.1524+33734G>C (n.1524+33734G>C) c.1529G>C (p.Gly510Ala) c.1145G>C (p.Gly382Ala) | dbSNP |
| 1 | g.97515826C>T | CA341378357 | DPYD | c.1640G>A (p.Gly547Asp) c.1524+33734G>A (n.1524+33734G>A) c.1529G>A (p.Gly510Asp) c.1145G>A (p.Gly382Asp) | dbSNP COSMIC |
| 1 | g.97515827C>A | CA341378358 | DPYD | c.1639G>T (p.Gly547Cys) c.1524+33733G>T (n.1524+33733G>T) c.1528G>T (p.Gly510Cys) c.1144G>T (p.Gly382Cys) | |
| 1 | g.97515827C>G | CA341378359 | DPYD | c.1639G>C (p.Gly547Arg) c.1524+33733G>C (n.1524+33733G>C) c.1528G>C (p.Gly510Arg) c.1144G>C (p.Gly382Arg) | |
| 1 | g.97515827C>T | CA341378360 | DPYD | c.1639G>A (p.Gly547Ser) c.1524+33733G>A (n.1524+33733G>A) c.1528G>A (p.Gly510Ser) c.1144G>A (p.Gly382Ser) | |
| 1 | g.97515828A>C | CA341378361 | DPYD | c.1638T>G (p.Phe546Leu) c.1524+33732T>G (n.1524+33732T>G) c.1527T>G (p.Phe509Leu) c.1143T>G (p.Phe381Leu) | dbSNP |
| 1 | g.97515828A>G | CA419142717 | DPYD | c.1638T>C (p.Phe546=) c.1524+33732T>C (n.1524+33732T>C) c.1527T>C (p.Phe509=) c.1143T>C (p.Phe381=) | |
| 1 | g.97515828A>T | CA341378362 | DPYD | c.1638T>A (p.Phe546Leu) c.1524+33732T>A (n.1524+33732T>A) c.1527T>A (p.Phe509Leu) c.1143T>A (p.Phe381Leu) | dbSNP |
| 1 | g.97515829A= | CA1182902290 | DPYD | c.1637T= (p.Phe546=) c.1524+33731T= (n.1524+33731T=) c.1526T= (p.Phe509=) c.1142T= (p.Phe381=) | |
| 1 | g.97515829A>C | CA341378363 | DPYD | c.1637T>G (p.Phe546Cys) c.1524+33731T>G (n.1524+33731T>G) c.1526T>G (p.Phe509Cys) c.1142T>G (p.Phe381Cys) | |
| 1 | g.97515829A>G | CA341378364 | DPYD | c.1637T>C (p.Phe546Ser) c.1524+33731T>C (n.1524+33731T>C) c.1526T>C (p.Phe509Ser) c.1142T>C (p.Phe381Ser) | dbSNP gnomAD v4 |
| 1 | g.97515829A>T | CA341378365 | DPYD | c.1637T>A (p.Phe546Tyr) c.1524+33731T>A (n.1524+33731T>A) c.1526T>A (p.Phe509Tyr) c.1142T>A (p.Phe381Tyr) | |
| 1 | g.97515830A>C | CA341378368 | DPYD | c.1636T>G (p.Phe546Val) c.1524+33730T>G (n.1524+33730T>G) c.1525T>G (p.Phe509Val) c.1141T>G (p.Phe381Val) | gnomAD v4 |
| 1 | g.97515830A>G | CA341378367 | DPYD | c.1636T>C (p.Phe546Leu) c.1524+33730T>C (n.1524+33730T>C) c.1525T>C (p.Phe509Leu) c.1141T>C (p.Phe381Leu) | |
| 1 | g.97515830A>T | CA341378366 | DPYD | c.1636T>A (p.Phe546Ile) c.1524+33730T>A (n.1524+33730T>A) c.1525T>A (p.Phe509Ile) c.1141T>A (p.Phe381Ile) | |
| 1 | g.97515831A= | CA1182902291 | DPYD | c.1635T= (p.Pro545=) c.1524+33729T= (n.1524+33729T=) c.1524T= (p.Pro508=) c.1140T= (p.Pro380=) | |
| 1 | g.97515831A>C | CA419142729 | DPYD | c.1635T>G (p.Pro545=) c.1524+33729T>G (n.1524+33729T>G) c.1524T>G (p.Pro508=) c.1140T>G (p.Pro380=) | |
| 1 | g.97515831A>G | CA963288 | DPYD | c.1635T>C (p.Pro545=) c.1524+33729T>C (n.1524+33729T>C) c.1524T>C (p.Pro508=) c.1140T>C (p.Pro380=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97515831A>T | CA419142732 | DPYD | c.1635T>A (p.Pro545=) c.1524+33729T>A (n.1524+33729T>A) c.1524T>A (p.Pro508=) c.1140T>A (p.Pro380=) | |
| 1 | g.97515832G>A | CA341378369 | DPYD | c.1634C>T (p.Pro545Leu) c.1524+33728C>T (n.1524+33728C>T) c.1523C>T (p.Pro508Leu) c.1139C>T (p.Pro380Leu) | dbSNP gnomAD v4 COSMIC |
| 1 | g.97515832G>C | CA341378370 | DPYD | c.1634C>G (p.Pro545Arg) c.1524+33728C>G (n.1524+33728C>G) c.1523C>G (p.Pro508Arg) c.1139C>G (p.Pro380Arg) | dbSNP |
| 1 | g.97515832G>T | CA341378371 | DPYD | c.1634C>A (p.Pro545His) c.1524+33728C>A (n.1524+33728C>A) c.1523C>A (p.Pro508His) c.1139C>A (p.Pro380His) | |
| 1 | g.97515832_97515833delinsAA | CA645518034 | DPYD | c.1633_1634delinsTT (p.Pro545Phe) c.1524+33727_1524+33728delinsTT (n.1524+33727_1524+33728delinsTT) c.1522_1523delinsTT (p.Pro508Phe) c.1138_1139delinsTT (p.Pro380Phe) | COSMIC |
| 1 | g.97515833G>A | CA341378372 | DPYD | c.1633C>T (p.Pro545Ser) c.1524+33727C>T (n.1524+33727C>T) c.1522C>T (p.Pro508Ser) c.1138C>T (p.Pro380Ser) | dbSNP COSMIC |
| 1 | g.97515833G>C | CA341378373 | DPYD | c.1633C>G (p.Pro545Ala) c.1524+33727C>G (n.1524+33727C>G) c.1522C>G (p.Pro508Ala) c.1138C>G (p.Pro380Ala) | dbSNP gnomAD v4 |
| 1 | g.97515833G>T | CA341378374 | DPYD | c.1633C>A (p.Pro545Thr) c.1524+33727C>A (n.1524+33727C>A) c.1522C>A (p.Pro508Thr) c.1138C>A (p.Pro380Thr) | |
| 1 | g.97515834A>C | CA341378375 | DPYD | c.1632T>G (p.Asn544Lys) c.1524+33726T>G (n.1524+33726T>G) c.1521T>G (p.Asn507Lys) c.1137T>G (p.Asn379Lys) | |
| 1 | g.97515834A>G | CA419142744 | DPYD | c.1632T>C (p.Asn544=) c.1524+33726T>C (n.1524+33726T>C) c.1521T>C (p.Asn507=) c.1137T>C (p.Asn379=) | |
| 1 | g.97515834A>T | CA341378376 | DPYD | c.1632T>A (p.Asn544Lys) c.1524+33726T>A (n.1524+33726T>A) c.1521T>A (p.Asn507Lys) c.1137T>A (p.Asn379Lys) | gnomAD v4 |
| 1 | g.97515835T>A | CA341378377 | DPYD | c.1631A>T (p.Asn544Ile) c.1524+33725A>T (n.1524+33725A>T) c.1520A>T (p.Asn507Ile) c.1136A>T (p.Asn379Ile) | dbSNP |
| 1 | g.97515835T>C | CA341378378 | DPYD | c.1631A>G (p.Asn544Ser) c.1524+33725A>G (n.1524+33725A>G) c.1520A>G (p.Asn507Ser) c.1136A>G (p.Asn379Ser) | |
| 1 | g.97515835T>G | CA341378379 | DPYD | c.1631A>C (p.Asn544Thr) c.1524+33725A>C (n.1524+33725A>C) c.1520A>C (p.Asn507Thr) c.1136A>C (p.Asn379Thr) | dbSNP |
| 1 | g.97515836T>A | CA341378382 | DPYD | c.1630A>T (p.Asn544Tyr) c.1524+33724A>T (n.1524+33724A>T) c.1519A>T (p.Asn507Tyr) c.1135A>T (p.Asn379Tyr) | dbSNP |
| 1 | g.97515836T>C | CA341378381 | DPYD | c.1630A>G (p.Asn544Asp) c.1524+33724A>G (n.1524+33724A>G) c.1519A>G (p.Asn507Asp) c.1135A>G (p.Asn379Asp) | |
| 1 | g.97515836T>G | CA341378380 | DPYD | c.1630A>C (p.Asn544His) c.1524+33724A>C (n.1524+33724A>C) c.1519A>C (p.Asn507His) c.1135A>C (p.Asn379His) | gnomAD v4 |
| 1 | g.97515837T>A | CA419142757 | DPYD | c.1629A>T (p.Ile543=) c.1524+33723A>T (n.1524+33723A>T) c.1518A>T (p.Ile506=) c.1134A>T (p.Ile378=) | |
| 1 | g.97515837T>C | CA341378383 | DPYD | c.1629A>G (p.Ile543Met) c.1524+33723A>G (n.1524+33723A>G) c.1518A>G (p.Ile506Met) c.1134A>G (p.Ile378Met) | |
| 1 | g.97515837T>G | CA419142761 | DPYD | c.1629A>C (p.Ile543=) c.1524+33723A>C (n.1524+33723A>C) c.1518A>C (p.Ile506=) c.1134A>C (p.Ile378=) | |
| 1 | g.97515838A>C | CA341378384 | DPYD | c.1628T>G (p.Ile543Arg) c.1524+33722T>G (n.1524+33722T>G) c.1517T>G (p.Ile506Arg) c.1133T>G (p.Ile378Arg) | |
| 1 | g.97515838A>G | CA341378385 | DPYD | c.1628T>C (p.Ile543Thr) c.1524+33722T>C (n.1524+33722T>C) c.1517T>C (p.Ile506Thr) c.1133T>C (p.Ile378Thr) | gnomAD v4 |
| 1 | g.97515838A>T | CA341378386 | DPYD | c.1628T>A (p.Ile543Lys) c.1524+33722T>A (n.1524+33722T>A) c.1517T>A (p.Ile506Lys) c.1133T>A (p.Ile378Lys) | |
| 1 | g.97515839T>A | CA341378387 | DPYD | c.1627A>T (p.Ile543Leu) c.1524+33721A>T (n.1524+33721A>T) c.1516A>T (p.Ile506Leu) c.1132A>T (p.Ile378Leu) | dbSNP |
| 1 | g.97515839T>C | CA200992 | DPYD | c.1627A>G (p.Ile543Val) c.1524+33721A>G (n.1524+33721A>G) c.1516A>G (p.Ile506Val) c.1132A>G (p.Ile378Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97515839T>G | CA341378388 | DPYD | c.1627A>C (p.Ile543Leu) c.1524+33721A>C (n.1524+33721A>C) c.1516A>C (p.Ile506Leu) c.1132A>C (p.Ile378Leu) | dbSNP |
| 1 | g.97515839T= | CA1139894835 | DPYD | c.1627A= (p.Ile543=) c.1524+33721A= (n.1524+33721A=) c.1516A= (p.Ile506=) c.1132A= (p.Ile378=) | |
| 1 | g.97515840A>C | CA341378389 | DPYD | c.1626T>G (p.Phe542Leu) c.1524+33720T>G (n.1524+33720T>G) c.1515T>G (p.Phe505Leu) c.1131T>G (p.Phe377Leu) | gnomAD v4 |
| 1 | g.97515840A>G | CA419142774 | DPYD | c.1626T>C (p.Phe542=) c.1524+33720T>C (n.1524+33720T>C) c.1515T>C (p.Phe505=) c.1131T>C (p.Phe377=) | dbSNP gnomAD v4 |
| 1 | g.97515840A>T | CA341378390 | DPYD | c.1626T>A (p.Phe542Leu) c.1524+33720T>A (n.1524+33720T>A) c.1515T>A (p.Phe505Leu) c.1131T>A (p.Phe377Leu) | dbSNP |
| 1 | g.97515841A>C | CA341378391 | DPYD | c.1625T>G (p.Phe542Cys) c.1524+33719T>G (n.1524+33719T>G) c.1514T>G (p.Phe505Cys) c.1130T>G (p.Phe377Cys) | |
| 1 | g.97515841A>G | CA341378392 | DPYD | c.1625T>C (p.Phe542Ser) c.1524+33719T>C (n.1524+33719T>C) c.1514T>C (p.Phe505Ser) c.1130T>C (p.Phe377Ser) | gnomAD v4 |
| 1 | g.97515841A>T | CA341378393 | DPYD | c.1625T>A (p.Phe542Tyr) c.1524+33719T>A (n.1524+33719T>A) c.1514T>A (p.Phe505Tyr) c.1130T>A (p.Phe377Tyr) | |
| 1 | g.97515842A>C | CA341378396 | DPYD | c.1624T>G (p.Phe542Val) c.1524+33718T>G (n.1524+33718T>G) c.1513T>G (p.Phe505Val) c.1129T>G (p.Phe377Val) | |
| 1 | g.97515842A>G | CA341378395 | DPYD | c.1624T>C (p.Phe542Leu) c.1524+33718T>C (n.1524+33718T>C) c.1513T>C (p.Phe505Leu) c.1129T>C (p.Phe377Leu) | |
| 1 | g.97515842A>T | CA341378394 | DPYD | c.1624T>A (p.Phe542Ile) c.1524+33718T>A (n.1524+33718T>A) c.1513T>A (p.Phe505Ile) c.1129T>A (p.Phe377Ile) | dbSNP |
| 1 | g.97515843C>A | CA341378397 | DPYD | c.1623G>T (p.Lys541Asn) c.1524+33717G>T (n.1524+33717G>T) c.1512G>T (p.Lys504Asn) c.1128G>T (p.Lys376Asn) | |
| 1 | g.97515843C>G | CA341378398 | DPYD | c.1623G>C (p.Lys541Asn) c.1524+33717G>C (n.1524+33717G>C) c.1512G>C (p.Lys504Asn) c.1128G>C (p.Lys376Asn) | dbSNP |
| 1 | g.97515843C>T | CA419142790 | DPYD | c.1623G>A (p.Lys541=) c.1524+33717G>A (n.1524+33717G>A) c.1512G>A (p.Lys504=) c.1128G>A (p.Lys376=) | |
| 1 | g.97515844T>A | CA341378399 | DPYD | c.1622A>T (p.Lys541Met) c.1524+33716A>T (n.1524+33716A>T) c.1511A>T (p.Lys504Met) c.1127A>T (p.Lys376Met) | dbSNP |
| 1 | g.97515844T>C | CA341378400 | DPYD | c.1622A>G (p.Lys541Arg) c.1524+33716A>G (n.1524+33716A>G) c.1511A>G (p.Lys504Arg) c.1127A>G (p.Lys376Arg) | |
| 1 | g.97515844T>G | CA341378401 | DPYD | c.1622A>C (p.Lys541Thr) c.1524+33716A>C (n.1524+33716A>C) c.1511A>C (p.Lys504Thr) c.1127A>C (p.Lys376Thr) | |
| 1 | g.97515845T>A | CA341378402 | DPYD | c.1621A>T (p.Lys541Ter) c.1524+33715A>T (n.1524+33715A>T) c.1510A>T (p.Lys504Ter) c.1126A>T (p.Lys376Ter) | dbSNP |
| 1 | g.97515845T>C | CA341378403 | DPYD | c.1621A>G (p.Lys541Glu) c.1524+33715A>G (n.1524+33715A>G) c.1510A>G (p.Lys504Glu) c.1126A>G (p.Lys376Glu) | dbSNP |
| 1 | g.97515845T>G | CA341378404 | DPYD | c.1621A>C (p.Lys541Gln) c.1524+33715A>C (n.1524+33715A>C) c.1510A>C (p.Lys504Gln) c.1126A>C (p.Lys376Gln) | |
| 1 | g.97515846C>A | CA341378406 | DPYD | c.1620G>T (p.Leu540Phe) c.1524+33714G>T (n.1524+33714G>T) c.1509G>T (p.Leu503Phe) c.1125G>T (p.Leu375Phe) | dbSNP |
| 1 | g.97515846C>G | CA341378405 | DPYD | c.1620G>C (p.Leu540Phe) c.1524+33714G>C (n.1524+33714G>C) c.1509G>C (p.Leu503Phe) c.1125G>C (p.Leu375Phe) | dbSNP COSMIC |
| 1 | g.97515846C>T | CA419142802 | DPYD | c.1620G>A (p.Leu540=) c.1524+33714G>A (n.1524+33714G>A) c.1509G>A (p.Leu503=) c.1125G>A (p.Leu375=) | |
| 1 | g.97515847A>C | CA341378407 | DPYD | c.1619T>G (p.Leu540Trp) c.1524+33713T>G (n.1524+33713T>G) c.1508T>G (p.Leu503Trp) c.1124T>G (p.Leu375Trp) | |
| 1 | g.97515847A>G | CA341378408 | DPYD | c.1619T>C (p.Leu540Ser) c.1524+33713T>C (n.1524+33713T>C) c.1508T>C (p.Leu503Ser) c.1124T>C (p.Leu375Ser) | COSMIC |
| 1 | g.97515847A>T | CA341378409 | DPYD | c.1619T>A (p.Leu540Ter) c.1524+33713T>A (n.1524+33713T>A) c.1508T>A (p.Leu503Ter) c.1124T>A (p.Leu375Ter) | |
| 1 | g.97515848A= | CA1182902292 | DPYD | c.1618T= (p.Leu540=) c.1524+33712T= (n.1524+33712T=) c.1507T= (p.Leu503=) c.1123T= (p.Leu375=) | |
| 1 | g.97515848A>C | CA341378410 | DPYD | c.1618T>G (p.Leu540Val) c.1524+33712T>G (n.1524+33712T>G) c.1507T>G (p.Leu503Val) c.1123T>G (p.Leu375Val) | |
| 1 | g.97515848A>G | CA419142810 | DPYD | c.1618T>C (p.Leu540=) c.1524+33712T>C (n.1524+33712T>C) c.1507T>C (p.Leu503=) c.1123T>C (p.Leu375=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.97515848A>T | CA963289 | DPYD | c.1618T>A (p.Leu540Met) c.1524+33712T>A (n.1524+33712T>A) c.1507T>A (p.Leu503Met) c.1123T>A (p.Leu375Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.97515849T>A | CA419142814 | DPYD | c.1617A>T (p.Gly539=) c.1524+33711A>T (n.1524+33711A>T) c.1506A>T (p.Gly502=) c.1122A>T (p.Gly374=) | dbSNP |
| 1 | g.97515849T>C | CA963290 | DPYD | c.1617A>G (p.Gly539=) c.1524+33711A>G (n.1524+33711A>G) c.1506A>G (p.Gly502=) c.1122A>G (p.Gly374=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.97515849T>G | CA419142817 | DPYD | c.1617A>C (p.Gly539=) c.1524+33711A>C (n.1524+33711A>C) c.1506A>C (p.Gly502=) c.1122A>C (p.Gly374=) | |
| 1 | g.97515849T= | CA1182902293 | DPYD | c.1617A= (p.Gly539=) c.1524+33711A= (n.1524+33711A=) c.1506A= (p.Gly502=) c.1122A= (p.Gly374=) | |
| 1 | g.97515850C>A | CA341378411 | DPYD | c.1616G>T (p.Gly539Val) c.1524+33710G>T (n.1524+33710G>T) c.1505G>T (p.Gly502Val) c.1121G>T (p.Gly374Val) | dbSNP |
| 1 | g.97515850C>G | CA341378413 | DPYD | c.1616G>C (p.Gly539Ala) c.1524+33710G>C (n.1524+33710G>C) c.1505G>C (p.Gly502Ala) c.1121G>C (p.Gly374Ala) | dbSNP |
| 1 | g.97515850C>T | CA341378412 | DPYD | c.1616G>A (p.Gly539Glu) c.1524+33710G>A (n.1524+33710G>A) c.1505G>A (p.Gly502Glu) c.1121G>A (p.Gly374Glu) | dbSNP |
| 1 | g.97515851C>A | CA341378414 | DPYD | c.1615G>T (p.Gly539Ter) c.1524+33709G>T (n.1524+33709G>T) c.1504G>T (p.Gly502Ter) c.1120G>T (p.Gly374Ter) | dbSNP |
| 1 | g.97515851C= | CA1141878698 | DPYD | c.1615G= (p.Gly539=) c.1524+33709G= (n.1524+33709G=) c.1504G= (p.Gly502=) c.1120G= (p.Gly374=) | |
| 1 | g.97515851C>G | CA963291 | DPYD | c.1615G>C (p.Gly539Arg) c.1524+33709G>C (n.1524+33709G>C) c.1504G>C (p.Gly502Arg) c.1120G>C (p.Gly374Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.97515851C>T | CA228121 | DPYD | c.1615G>A (p.Gly539Arg) c.1524+33709G>A (n.1524+33709G>A) c.1504G>A (p.Gly502Arg) c.1120G>A (p.Gly374Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.97515852G>A | CA963292 | DPYD | c.1614C>T (p.Ala538=) c.1524+33708C>T (n.1524+33708C>T) c.1503C>T (p.Ala501=) c.1119C>T (p.Ala373=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.97515852G>C | CA419142832 | DPYD | c.1614C>G (p.Ala538=) c.1524+33708C>G (n.1524+33708C>G) c.1503C>G (p.Ala501=) c.1119C>G (p.Ala373=) | dbSNP |
| 1 | g.97515852G= | CA1182902294 | DPYD | c.1614C= (p.Ala538=) c.1524+33708C= (n.1524+33708C=) c.1503C= (p.Ala501=) c.1119C= (p.Ala373=) | |
| 1 | g.97515852G>T | CA419142834 | DPYD | c.1614C>A (p.Ala538=) c.1524+33708C>A (n.1524+33708C>A) c.1503C>A (p.Ala501=) c.1119C>A (p.Ala373=) | dbSNP gnomAD v4 |
| 1 | g.97515853G>A | CA341378415 | DPYD | c.1613C>T (p.Ala538Val) c.1524+33707C>T (n.1524+33707C>T) c.1502C>T (p.Ala501Val) c.1118C>T (p.Ala373Val) | dbSNP |
| 1 | g.97515853G>C | CA341378416 | DPYD | c.1613C>G (p.Ala538Gly) c.1524+33707C>G (n.1524+33707C>G) c.1502C>G (p.Ala501Gly) c.1118C>G (p.Ala373Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.97515853G= | CA1182902295 | DPYD | c.1613C= (p.Ala538=) c.1524+33707C= (n.1524+33707C=) c.1502C= (p.Ala501=) c.1118C= (p.Ala373=) | |
| 1 | g.97515853G>T | CA341378417 | DPYD | c.1613C>A (p.Ala538Asp) c.1524+33707C>A (n.1524+33707C>A) c.1502C>A (p.Ala501Asp) c.1118C>A (p.Ala373Asp) | dbSNP |
| 1 | g.97515854C>A | CA341378418 | DPYD | c.1612G>T (p.Ala538Ser) c.1524+33706G>T (n.1524+33706G>T) c.1501G>T (p.Ala501Ser) c.1117G>T (p.Ala373Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.97515854C= | CA1182902296 | DPYD | c.1612G= (p.Ala538=) c.1524+33706G= (n.1524+33706G=) c.1501G= (p.Ala501=) c.1117G= (p.Ala373=) | |
| 1 | g.97515854C>G | CA341378419 | DPYD | c.1612G>C (p.Ala538Pro) c.1524+33706G>C (n.1524+33706G>C) c.1501G>C (p.Ala501Pro) c.1117G>C (p.Ala373Pro) | dbSNP |
| 1 | g.97515854C>T | CA341378420 | DPYD | c.1612G>A (p.Ala538Thr) c.1524+33706G>A (n.1524+33706G>A) c.1501G>A (p.Ala501Thr) c.1117G>A (p.Ala373Thr) | dbSNP gnomAD v4 |
| 1 | g.97515855C>A | CA341378423 | DPYD | c.1611G>T (p.Met537Ile) c.1524+33705G>T (n.1524+33705G>T) c.1500G>T (p.Met500Ile) c.1116G>T (p.Met372Ile) | dbSNP |
| 1 | g.97515855C>G | CA341378422 | DPYD | c.1611G>C (p.Met537Ile) c.1524+33705G>C (n.1524+33705G>C) c.1500G>C (p.Met500Ile) c.1116G>C (p.Met372Ile) | dbSNP |
| 1 | g.97515855C>T | CA341378421 | DPYD | c.1611G>A (p.Met537Ile) c.1524+33705G>A (n.1524+33705G>A) c.1500G>A (p.Met500Ile) c.1116G>A (p.Met372Ile) | dbSNP |
| 1 | g.97515856A>C | CA341378424 | DPYD | c.1610T>G (p.Met537Arg) c.1524+33704T>G (n.1524+33704T>G) c.1499T>G (p.Met500Arg) c.1115T>G (p.Met372Arg) | dbSNP |
| 1 | g.97515856A>G | CA341378425 | DPYD | c.1610T>C (p.Met537Thr) c.1524+33704T>C (n.1524+33704T>C) c.1499T>C (p.Met500Thr) c.1115T>C (p.Met372Thr) | gnomAD v4 |
| 1 | g.97515856A>T | CA341378426 | DPYD | c.1610T>A (p.Met537Lys) c.1524+33704T>A (n.1524+33704T>A) c.1499T>A (p.Met500Lys) c.1115T>A (p.Met372Lys) | dbSNP |
| 1 | g.97515857T>A | CA341378427 | DPYD | c.1609A>T (p.Met537Leu) c.1524+33703A>T (n.1524+33703A>T) c.1498A>T (p.Met500Leu) c.1114A>T (p.Met372Leu) | |
| 1 | g.97515857T>C | CA341378428 | DPYD | c.1609A>G (p.Met537Val) c.1524+33703A>G (n.1524+33703A>G) c.1498A>G (p.Met500Val) c.1114A>G (p.Met372Val) | gnomAD v4 |
| 1 | g.97515857T>G | CA341378429 | DPYD | c.1609A>C (p.Met537Leu) c.1524+33703A>C (n.1524+33703A>C) c.1498A>C (p.Met500Leu) c.1114A>C (p.Met372Leu) | dbSNP gnomAD v4 |
| 1 | g.97515857T= | CA1182902297 | DPYD | c.1609A= (p.Met537=) c.1524+33703A= (n.1524+33703A=) c.1498A= (p.Met500=) c.1114A= (p.Met372=) | |
| 1 | g.97515858T>A | CA341378430 | DPYD | c.1608A>T (p.Glu536Asp) c.1524+33702A>T (n.1524+33702A>T) c.1497A>T (p.Glu499Asp) c.1113A>T (p.Glu371Asp) | |
| 1 | g.97515858T>C | CA419142860 | DPYD | c.1608A>G (p.Glu536=) c.1524+33702A>G (n.1524+33702A>G) c.1497A>G (p.Glu499=) c.1113A>G (p.Glu371=) | |
| 1 | g.97515858T>G | CA963293 | DPYD | c.1608A>C (p.Glu536Asp) c.1524+33702A>C (n.1524+33702A>C) c.1497A>C (p.Glu499Asp) c.1113A>C (p.Glu371Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.97515858T= | CA1182902298 | DPYD | c.1608A= (p.Glu536=) c.1524+33702A= (n.1524+33702A=) c.1497A= (p.Glu499=) c.1113A= (p.Glu371=) | |
| 1 | g.97515859T>A | CA341378431 | DPYD | c.1607A>T (p.Glu536Val) c.1524+33701A>T (n.1524+33701A>T) c.1496A>T (p.Glu499Val) c.1112A>T (p.Glu371Val) | |
| 1 | g.97515859T>C | CA341378432 | DPYD | c.1607A>G (p.Glu536Gly) c.1524+33701A>G (n.1524+33701A>G) c.1496A>G (p.Glu499Gly) c.1112A>G (p.Glu371Gly) | |
| 1 | g.97515859T>G | CA341378433 | DPYD | c.1607A>C (p.Glu536Ala) c.1524+33701A>C (n.1524+33701A>C) c.1496A>C (p.Glu499Ala) c.1112A>C (p.Glu371Ala) | |
| 1 | g.97515860C>A | CA341378434 | DPYD | c.1606G>T (p.Glu536Ter) c.1524+33700G>T (n.1524+33700G>T) c.1495G>T (p.Glu499Ter) c.1111G>T (p.Glu371Ter) | dbSNP |
| 1 | g.97515860C>G | CA341378435 | DPYD | c.1606G>C (p.Glu536Gln) c.1524+33700G>C (n.1524+33700G>C) c.1495G>C (p.Glu499Gln) c.1111G>C (p.Glu371Gln) | dbSNP |
| 1 | g.97515860C>T | CA341378436 | DPYD | c.1606G>A (p.Glu536Lys) c.1524+33700G>A (n.1524+33700G>A) c.1495G>A (p.Glu499Lys) c.1111G>A (p.Glu371Lys) | |
| 1 | g.97515861T>A | CA419142874 | DPYD | c.1605A>T (p.Val535=) c.1524+33699A>T (n.1524+33699A>T) c.1494A>T (p.Val498=) c.1110A>T (p.Val370=) | |
| 1 | g.97515861T>C | CA419142878 | DPYD | c.1605A>G (p.Val535=) c.1524+33699A>G (n.1524+33699A>G) c.1494A>G (p.Val498=) c.1110A>G (p.Val370=) | dbSNP |
| 1 | g.97515861T>G | CA419142876 | DPYD | c.1605A>C (p.Val535=) c.1524+33699A>C (n.1524+33699A>C) c.1494A>C (p.Val498=) c.1110A>C (p.Val370=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.97515861T= | CA1182902299 | DPYD | c.1605A= (p.Val535=) c.1524+33699A= (n.1524+33699A=) c.1494A= (p.Val498=) c.1110A= (p.Val370=) | |
| 1 | g.97515862A>C | CA341378437 | DPYD | c.1604T>G (p.Val535Gly) c.1524+33698T>G (n.1524+33698T>G) c.1493T>G (p.Val498Gly) c.1109T>G (p.Val370Gly) | dbSNP |
| 1 | g.97515862A>G | CA341378439 | DPYD | c.1604T>C (p.Val535Ala) c.1524+33698T>C (n.1524+33698T>C) c.1493T>C (p.Val498Ala) c.1109T>C (p.Val370Ala) | |
| 1 | g.97515862A>T | CA341378438 | DPYD | c.1604T>A (p.Val535Glu) c.1524+33698T>A (n.1524+33698T>A) c.1493T>A (p.Val498Glu) c.1109T>A (p.Val370Glu) | |
| 1 | g.97515863C>A | CA341378440 | DPYD | c.1603G>T (p.Val535Leu) c.1524+33697G>T (n.1524+33697G>T) c.1492G>T (p.Val498Leu) c.1108G>T (p.Val370Leu) | gnomAD v4 |
| 1 | g.97515863C= | CA1182902300 | DPYD | c.1603G= (p.Val535=) c.1524+33697G= (n.1524+33697G=) c.1492G= (p.Val498=) c.1108G= (p.Val370=) | |
| 1 | g.97515863C>G | CA341378441 | DPYD | c.1603G>C (p.Val535Leu) c.1524+33697G>C (n.1524+33697G>C) c.1492G>C (p.Val498Leu) c.1108G>C (p.Val370Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.97515863C>T | CA341378442 | DPYD | c.1603G>A (p.Val535Ile) c.1524+33697G>A (n.1524+33697G>A) c.1492G>A (p.Val498Ile) c.1108G>A (p.Val370Ile) | dbSNP gnomAD v4 |
| 1 | g.97515864A= | CA1182902301 | DPYD | c.1602T= (p.Ser534=) c.1524+33696T= (n.1524+33696T=) c.1491T= (p.Ser497=) c.1107T= (p.Ser369=) | |
| 1 | g.97515864A>C | CA341378443 | DPYD | c.1602T>G (p.Ser534Arg) c.1524+33696T>G (n.1524+33696T>G) c.1491T>G (p.Ser497Arg) c.1107T>G (p.Ser369Arg) | |
| 1 | g.97515864A>G | CA419142888 | DPYD | c.1602T>C (p.Ser534=) c.1524+33696T>C (n.1524+33696T>C) c.1491T>C (p.Ser497=) c.1107T>C (p.Ser369=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.97515864A>T | CA341378444 | DPYD | c.1602T>A (p.Ser534Arg) c.1524+33696T>A (n.1524+33696T>A) c.1491T>A (p.Ser497Arg) c.1107T>A (p.Ser369Arg) | |
| 1 | g.97515865C>A | CA341378445 | DPYD | c.1601G>T (p.Ser534Ile) c.1524+33695G>T (n.1524+33695G>T) c.1490G>T (p.Ser497Ile) c.1106G>T (p.Ser369Ile) | dbSNP |
| 1 | g.97515865C= | CA1139894833 | DPYD | c.1601G= (p.Ser534=) c.1524+33695G= (n.1524+33695G=) c.1490G= (p.Ser497=) c.1106G= (p.Ser369=) | |
| 1 | g.97515865C>G | CA341378449 | DPYD | c.1601G>C (p.Ser534Thr) c.1524+33695G>C (n.1524+33695G>C) c.1490G>C (p.Ser497Thr) c.1106G>C (p.Ser369Thr) | dbSNP |
| 1 | g.97515865C>T | CA228124 | DPYD | c.1601G>A (p.Ser534Asn) c.1524+33695G>A (n.1524+33695G>A) c.1490G>A (p.Ser497Asn) c.1106G>A (p.Ser369Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97515866T>A | CA341378451 | DPYD | c.1600A>T (p.Ser534Cys) c.1524+33694A>T (n.1524+33694A>T) c.1489A>T (p.Ser497Cys) c.1105A>T (p.Ser369Cys) | dbSNP |
| 1 | g.97515866T>C | CA341378453 | DPYD | c.1600A>G (p.Ser534Gly) c.1524+33694A>G (n.1524+33694A>G) c.1489A>G (p.Ser497Gly) c.1105A>G (p.Ser369Gly) | |
| 1 | g.97515866T>G | CA341378454 | DPYD | c.1600A>C (p.Ser534Arg) c.1524+33694A>C (n.1524+33694A>C) c.1489A>C (p.Ser497Arg) c.1105A>C (p.Ser369Arg) | |
| 1 | g.97515867A>C | CA341378456 | DPYD | c.1599T>G (p.Ile533Met) c.1524+33693T>G (n.1524+33693T>G) c.1488T>G (p.Ile496Met) c.1104T>G (p.Ile368Met) | |
| 1 | g.97515867A>G | CA419142894 | DPYD | c.1599T>C (p.Ile533=) c.1524+33693T>C (n.1524+33693T>C) c.1488T>C (p.Ile496=) c.1104T>C (p.Ile368=) | |
| 1 | g.97515867A>T | CA419142896 | DPYD | c.1599T>A (p.Ile533=) c.1524+33693T>A (n.1524+33693T>A) c.1488T>A (p.Ile496=) c.1104T>A (p.Ile368=) | gnomAD v4 |