UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.97450111_97450120del | CA2646705580 | DPYD | c.1844_1853del (p.Glu615ValfsTer11) c.1628_1637del (p.Glu543ValfsTer11) c.1733_1742del (p.Glu578ValfsTer11) c.1349_1358del (p.Glu450ValfsTer11) | gnomAD v4 |
| 1 | g.97450112C>A | CA341376019 | DPYD | c.1852G>T (p.Ala618Ser) c.1636G>T (p.Ala546Ser) c.1741G>T (p.Ala581Ser) c.1357G>T (p.Ala453Ser) | dbSNP gnomAD v4 |
| 1 | g.97450112C>G | CA341376020 | DPYD | c.1852G>C (p.Ala618Pro) c.1636G>C (p.Ala546Pro) c.1741G>C (p.Ala581Pro) c.1357G>C (p.Ala453Pro) | dbSNP |
| 1 | g.97450112C>T | CA341376021 | DPYD | c.1852G>A (p.Ala618Thr) c.1636G>A (p.Ala546Thr) c.1741G>A (p.Ala581Thr) c.1357G>A (p.Ala453Thr) | dbSNP |
| 1 | g.97450113C>A | CA419145490 | DPYD | c.1851G>T (p.Thr617=) c.1635G>T (p.Thr545=) c.1740G>T (p.Thr580=) c.1356G>T (p.Thr452=) | |
| 1 | g.97450113C= | CA1148471790 | DPYD | c.1851G= (p.Thr617=) c.1635G= (p.Thr545=) c.1740G= (p.Thr580=) c.1356G= (p.Thr452=) | |
| 1 | g.97450113C>G | CA419145498 | DPYD | c.1851G>C (p.Thr617=) c.1635G>C (p.Thr545=) c.1740G>C (p.Thr580=) c.1356G>C (p.Thr452=) | dbSNP |
| 1 | g.97450113C>T | CA963220 | DPYD | c.1851G>A (p.Thr617=) c.1635G>A (p.Thr545=) c.1740G>A (p.Thr580=) c.1356G>A (p.Thr452=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.97450114G>A | CA963221 | DPYD | c.1850C>T (p.Thr617Met) c.1634C>T (p.Thr545Met) c.1739C>T (p.Thr580Met) c.1355C>T (p.Thr452Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.97450114G>C | CA341376022 | DPYD | c.1850C>G (p.Thr617Arg) c.1634C>G (p.Thr545Arg) c.1739C>G (p.Thr580Arg) c.1355C>G (p.Thr452Arg) | dbSNP |
| 1 | g.97450114G= | CA1182873445 | DPYD | c.1850C= (p.Thr617=) c.1634C= (p.Thr545=) c.1739C= (p.Thr580=) c.1355C= (p.Thr452=) | |
| 1 | g.97450114G>T | CA341376023 | DPYD | c.1850C>A (p.Thr617Lys) c.1634C>A (p.Thr545Lys) c.1739C>A (p.Thr580Lys) c.1355C>A (p.Thr452Lys) | |
| 1 | g.97450115T>A | CA341376024 | DPYD | c.1849A>T (p.Thr617Ser) c.1633A>T (p.Thr545Ser) c.1738A>T (p.Thr580Ser) c.1354A>T (p.Thr452Ser) | dbSNP |
| 1 | g.97450115T>C | CA963222 | DPYD | c.1849A>G (p.Thr617Ala) c.1633A>G (p.Thr545Ala) c.1738A>G (p.Thr580Ala) c.1354A>G (p.Thr452Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.97450115T>G | CA341376025 | DPYD | c.1849A>C (p.Thr617Pro) c.1633A>C (p.Thr545Pro) c.1738A>C (p.Thr580Pro) c.1354A>C (p.Thr452Pro) | |
| 1 | g.97450115T= | CA1182873446 | DPYD | c.1849A= (p.Thr617=) c.1633A= (p.Thr545=) c.1738A= (p.Thr580=) c.1354A= (p.Thr452=) | |
| 1 | g.97450116T>A | CA341376027 | DPYD | c.1848A>T (p.Lys616Asn) c.1632A>T (p.Lys544Asn) c.1737A>T (p.Lys579Asn) c.1353A>T (p.Lys451Asn) | dbSNP |
| 1 | g.97450116T>C | CA419145515 | DPYD | c.1848A>G (p.Lys616=) c.1632A>G (p.Lys544=) c.1737A>G (p.Lys579=) c.1353A>G (p.Lys451=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97450116T>G | CA341376026 | DPYD | c.1848A>C (p.Lys616Asn) c.1632A>C (p.Lys544Asn) c.1737A>C (p.Lys579Asn) c.1353A>C (p.Lys451Asn) | dbSNP |
| 1 | g.97450116T= | CA1182873447 | DPYD | c.1848A= (p.Lys616=) c.1632A= (p.Lys544=) c.1737A= (p.Lys579=) c.1353A= (p.Lys451=) | |
| 1 | g.97450117T>A | CA341376028 | DPYD | c.1847A>T (p.Lys616Ile) c.1631A>T (p.Lys544Ile) c.1736A>T (p.Lys579Ile) c.1352A>T (p.Lys451Ile) | |
| 1 | g.97450117T>C | CA341376029 | DPYD | c.1847A>G (p.Lys616Arg) c.1631A>G (p.Lys544Arg) c.1736A>G (p.Lys579Arg) c.1352A>G (p.Lys451Arg) | gnomAD v4 |
| 1 | g.97450117T>G | CA341376030 | DPYD | c.1847A>C (p.Lys616Thr) c.1631A>C (p.Lys544Thr) c.1736A>C (p.Lys579Thr) c.1352A>C (p.Lys451Thr) | |
| 1 | g.97450118T>A | CA341376031 | DPYD | c.1846A>T (p.Lys616Ter) c.1630A>T (p.Lys544Ter) c.1735A>T (p.Lys579Ter) c.1351A>T (p.Lys451Ter) | |
| 1 | g.97450118T>C | CA341376032 | DPYD | c.1846A>G (p.Lys616Glu) c.1630A>G (p.Lys544Glu) c.1735A>G (p.Lys579Glu) c.1351A>G (p.Lys451Glu) | |
| 1 | g.97450118T>G | CA963223 | DPYD | c.1846A>C (p.Lys616Gln) c.1630A>C (p.Lys544Gln) c.1735A>C (p.Lys579Gln) c.1351A>C (p.Lys451Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97450118T= | CA1143577661 | DPYD | c.1846A= (p.Lys616=) c.1630A= (p.Lys544=) c.1735A= (p.Lys579=) c.1351A= (p.Lys451=) | |
| 1 | g.97450119C>A | CA341376033 | DPYD | c.1845G>T (p.Glu615Asp) c.1629G>T (p.Glu543Asp) c.1734G>T (p.Glu578Asp) c.1350G>T (p.Glu450Asp) | dbSNP |
| 1 | g.97450119C>G | CA341376034 | DPYD | c.1845G>C (p.Glu615Asp) c.1629G>C (p.Glu543Asp) c.1734G>C (p.Glu578Asp) c.1350G>C (p.Glu450Asp) | |
| 1 | g.97450119C>T | CA419145529 | DPYD | c.1845G>A (p.Glu615=) c.1629G>A (p.Glu543=) c.1734G>A (p.Glu578=) c.1350G>A (p.Glu450=) | gnomAD v4 |
| 1 | g.97450120T>A | CA341376035 | DPYD | c.1844A>T (p.Glu615Val) c.1628A>T (p.Glu543Val) c.1733A>T (p.Glu578Val) c.1349A>T (p.Glu450Val) | dbSNP |
| 1 | g.97450120T>C | CA341376036 | DPYD | c.1844A>G (p.Glu615Gly) c.1628A>G (p.Glu543Gly) c.1733A>G (p.Glu578Gly) c.1349A>G (p.Glu450Gly) | |
| 1 | g.97450120T>G | CA341376037 | DPYD | c.1844A>C (p.Glu615Ala) c.1628A>C (p.Glu543Ala) c.1733A>C (p.Glu578Ala) c.1349A>C (p.Glu450Ala) | COSMIC |
| 1 | g.97450121C>A | CA341376038 | DPYD | c.1843G>T (p.Glu615Ter) c.1627G>T (p.Glu543Ter) c.1732G>T (p.Glu578Ter) c.1348G>T (p.Glu450Ter) | |
| 1 | g.97450121C>G | CA341376039 | DPYD | c.1843G>C (p.Glu615Gln) c.1627G>C (p.Glu543Gln) c.1732G>C (p.Glu578Gln) c.1348G>C (p.Glu450Gln) | dbSNP |
| 1 | g.97450121C>T | CA341376040 | DPYD | c.1843G>A (p.Glu615Lys) c.1627G>A (p.Glu543Lys) c.1732G>A (p.Glu578Lys) c.1348G>A (p.Glu450Lys) | dbSNP |
| 1 | g.97450122A>C | CA341376041 | DPYD | c.1842T>G (p.Ser614Arg) c.1626T>G (p.Ser542Arg) c.1731T>G (p.Ser577Arg) c.1347T>G (p.Ser449Arg) | |
| 1 | g.97450122A>G | CA419145544 | DPYD | c.1842T>C (p.Ser614=) c.1626T>C (p.Ser542=) c.1731T>C (p.Ser577=) c.1347T>C (p.Ser449=) | dbSNP |
| 1 | g.97450122A>T | CA341376042 | DPYD | c.1842T>A (p.Ser614Arg) c.1626T>A (p.Ser542Arg) c.1731T>A (p.Ser577Arg) c.1347T>A (p.Ser449Arg) | dbSNP |
| 1 | g.97450123C>A | CA341376043 | DPYD | c.1841G>T (p.Ser614Ile) c.1625G>T (p.Ser542Ile) c.1730G>T (p.Ser577Ile) c.1346G>T (p.Ser449Ile) | |
| 1 | g.97450123C= | CA1182873448 | DPYD | c.1841G= (p.Ser614=) c.1625G= (p.Ser542=) c.1730G= (p.Ser577=) c.1346G= (p.Ser449=) | |
| 1 | g.97450123C>G | CA341376045 | DPYD | c.1841G>C (p.Ser614Thr) c.1625G>C (p.Ser542Thr) c.1730G>C (p.Ser577Thr) c.1346G>C (p.Ser449Thr) | dbSNP |
| 1 | g.97450123C>T | CA341376044 | DPYD | c.1841G>A (p.Ser614Asn) c.1625G>A (p.Ser542Asn) c.1730G>A (p.Ser577Asn) c.1346G>A (p.Ser449Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.97450124T>A | CA341376046 | DPYD | c.1840A>T (p.Ser614Cys) c.1624A>T (p.Ser542Cys) c.1729A>T (p.Ser577Cys) c.1345A>T (p.Ser449Cys) | COSMIC |
| 1 | g.97450124T>C | CA341376047 | DPYD | c.1840A>G (p.Ser614Gly) c.1624A>G (p.Ser542Gly) c.1729A>G (p.Ser577Gly) c.1345A>G (p.Ser449Gly) | |
| 1 | g.97450124T>G | CA341376048 | DPYD | c.1840A>C (p.Ser614Arg) c.1624A>C (p.Ser542Arg) c.1729A>C (p.Ser577Arg) c.1345A>C (p.Ser449Arg) | gnomAD v4 |
| 1 | g.97450125G>A | CA419145557 | DPYD | c.1839C>T (p.Ile613=) c.1623C>T (p.Ile541=) c.1728C>T (p.Ile576=) c.1344C>T (p.Ile448=) | dbSNP gnomAD v4 |
| 1 | g.97450125G>C | CA341376049 | DPYD | c.1839C>G (p.Ile613Met) c.1623C>G (p.Ile541Met) c.1728C>G (p.Ile576Met) c.1344C>G (p.Ile448Met) | dbSNP |
| 1 | g.97450125G>T | CA419145561 | DPYD | c.1839C>A (p.Ile613=) c.1623C>A (p.Ile541=) c.1728C>A (p.Ile576=) c.1344C>A (p.Ile448=) | |
| 1 | g.97450126A= | CA1182873449 | DPYD | c.1838T= (p.Ile613=) c.1622T= (p.Ile541=) c.1727T= (p.Ile576=) c.1343T= (p.Ile448=) |