| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.97450101_97450103dup | CA2574442214 | DPYD | c.1863_1865dup (p.Trp621_Cys622insTrp) c.1647_1649dup (p.Trp549_Cys550insTrp) c.1752_1754dup (p.Trp584_Cys585insTrp) c.1368_1370dup (p.Trp456_Cys457insTrp) | |
| 1 | g.97450101C>A | CA341375996 | DPYD | c.1863G>T (p.Trp621Cys) c.1647G>T (p.Trp549Cys) c.1752G>T (p.Trp584Cys) c.1368G>T (p.Trp456Cys) | dbSNP gnomAD v4 |
| 1 | g.97450101C= | CA1182873440 | DPYD | c.1863G= (p.Trp621=) c.1647G= (p.Trp549=) c.1752G= (p.Trp584=) c.1368G= (p.Trp456=) | |
| 1 | g.97450101C>G | CA341375997 | DPYD | c.1863G>C (p.Trp621Cys) c.1647G>C (p.Trp549Cys) c.1752G>C (p.Trp584Cys) c.1368G>C (p.Trp456Cys) | dbSNP |
| 1 | g.97450101C>T | CA16040800 | DPYD | c.1863G>A (p.Trp621Ter) c.1647G>A (p.Trp549Ter) c.1752G>A (p.Trp584Ter) c.1368G>A (p.Trp456Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97450102C>A | CA341375998 | DPYD | c.1862G>T (p.Trp621Leu) c.1646G>T (p.Trp549Leu) c.1751G>T (p.Trp584Leu) c.1367G>T (p.Trp456Leu) | dbSNP |
| 1 | g.97450102C= | CA1182873441 | DPYD | c.1862G= (p.Trp621=) c.1646G= (p.Trp549=) c.1751G= (p.Trp584=) c.1367G= (p.Trp456=) | |
| 1 | g.97450102C>G | CA341375999 | DPYD | c.1862G>C (p.Trp621Ser) c.1646G>C (p.Trp549Ser) c.1751G>C (p.Trp584Ser) c.1367G>C (p.Trp456Ser) | |
| 1 | g.97450102C>T | CA341376000 | DPYD | c.1862G>A (p.Trp621Ter) c.1646G>A (p.Trp549Ter) c.1751G>A (p.Trp584Ter) c.1367G>A (p.Trp456Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.97450103A>C | CA341376001 | DPYD | c.1861T>G (p.Trp621Gly) c.1645T>G (p.Trp549Gly) c.1750T>G (p.Trp584Gly) c.1366T>G (p.Trp456Gly) | |
| 1 | g.97450103A>G | CA341376002 | DPYD | c.1861T>C (p.Trp621Arg) c.1645T>C (p.Trp549Arg) c.1750T>C (p.Trp584Arg) c.1366T>C (p.Trp456Arg) | |
| 1 | g.97450103A>T | CA341376003 | DPYD | c.1861T>A (p.Trp621Arg) c.1645T>A (p.Trp549Arg) c.1750T>A (p.Trp584Arg) c.1366T>A (p.Trp456Arg) | |
| 1 | g.97450104A>C | CA341376004 | DPYD | c.1860T>G (p.Tyr620Ter) c.1644T>G (p.Tyr548Ter) c.1749T>G (p.Tyr583Ter) c.1365T>G (p.Tyr455Ter) | |
| 1 | g.97450104A>G | CA419145434 | DPYD | c.1860T>C (p.Tyr620=) c.1644T>C (p.Tyr548=) c.1749T>C (p.Tyr583=) c.1365T>C (p.Tyr455=) | gnomAD v4 |
| 1 | g.97450104A>T | CA341376005 | DPYD | c.1860T>A (p.Tyr620Ter) c.1644T>A (p.Tyr548Ter) c.1749T>A (p.Tyr583Ter) c.1365T>A (p.Tyr455Ter) | |
| 1 | g.97450105T>A | CA963217 | DPYD | c.1859A>T (p.Tyr620Phe) c.1643A>T (p.Tyr548Phe) c.1748A>T (p.Tyr583Phe) c.1364A>T (p.Tyr455Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97450105T>C | CA963218 | DPYD | c.1859A>G (p.Tyr620Cys) c.1643A>G (p.Tyr548Cys) c.1748A>G (p.Tyr583Cys) c.1364A>G (p.Tyr455Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97450105T>G | CA341376006 | DPYD | c.1859A>C (p.Tyr620Ser) c.1643A>C (p.Tyr548Ser) c.1748A>C (p.Tyr583Ser) c.1364A>C (p.Tyr455Ser) | |
| 1 | g.97450105T= | CA1148868018 | DPYD | c.1859A= (p.Tyr620=) c.1643A= (p.Tyr548=) c.1748A= (p.Tyr583=) c.1364A= (p.Tyr455=) | |
| 1 | g.97450106A>C | CA341376007 | DPYD | c.1858T>G (p.Tyr620Asp) c.1642T>G (p.Tyr548Asp) c.1747T>G (p.Tyr583Asp) c.1363T>G (p.Tyr455Asp) | |
| 1 | g.97450106A>G | CA341376008 | DPYD | c.1858T>C (p.Tyr620His) c.1642T>C (p.Tyr548His) c.1747T>C (p.Tyr583His) c.1363T>C (p.Tyr455His) | |
| 1 | g.97450106A>T | CA341376009 | DPYD | c.1858T>A (p.Tyr620Asn) c.1642T>A (p.Tyr548Asn) c.1747T>A (p.Tyr583Asn) c.1363T>A (p.Tyr455Asn) | |
| 1 | g.97450107T>A | CA419145448 | DPYD | c.1857A>T (p.Ala619=) c.1641A>T (p.Ala547=) c.1746A>T (p.Ala582=) c.1362A>T (p.Ala454=) | |
| 1 | g.97450107T>C | CA963219 | DPYD | c.1857A>G (p.Ala619=) c.1641A>G (p.Ala547=) c.1746A>G (p.Ala582=) c.1362A>G (p.Ala454=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97450107T>G | CA419145454 | DPYD | c.1857A>C (p.Ala619=) c.1641A>C (p.Ala547=) c.1746A>C (p.Ala582=) c.1362A>C (p.Ala454=) | dbSNP gnomAD v4 |
| 1 | g.97450107T= | CA1182873442 | DPYD | c.1857A= (p.Ala619=) c.1641A= (p.Ala547=) c.1746A= (p.Ala582=) c.1362A= (p.Ala454=) | |
| 1 | g.97450108G>A | CA341376010 | DPYD | c.1856C>T (p.Ala619Val) c.1640C>T (p.Ala547Val) c.1745C>T (p.Ala582Val) c.1361C>T (p.Ala454Val) | dbSNP |
| 1 | g.97450108G>C | CA341376011 | DPYD | c.1856C>G (p.Ala619Gly) c.1640C>G (p.Ala547Gly) c.1745C>G (p.Ala582Gly) c.1361C>G (p.Ala454Gly) | dbSNP |
| 1 | g.97450108G>T | CA341376012 | DPYD | c.1856C>A (p.Ala619Glu) c.1640C>A (p.Ala547Glu) c.1745C>A (p.Ala582Glu) c.1361C>A (p.Ala454Glu) | |
| 1 | g.97450109C>A | CA341376014 | DPYD | c.1855G>T (p.Ala619Ser) c.1639G>T (p.Ala547Ser) c.1744G>T (p.Ala582Ser) c.1360G>T (p.Ala454Ser) | dbSNP |
| 1 | g.97450109C= | CA1182873443 | DPYD | c.1855G= (p.Ala619=) c.1639G= (p.Ala547=) c.1744G= (p.Ala582=) c.1360G= (p.Ala454=) | |
| 1 | g.97450109C>G | CA341376015 | DPYD | c.1855G>C (p.Ala619Pro) c.1639G>C (p.Ala547Pro) c.1744G>C (p.Ala582Pro) c.1360G>C (p.Ala454Pro) | dbSNP |
| 1 | g.97450109C>T | CA341376013 | DPYD | c.1855G>A (p.Ala619Thr) c.1639G>A (p.Ala547Thr) c.1744G>A (p.Ala582Thr) c.1360G>A (p.Ala454Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.97450109_97450110insTTC | CA2646705578 | DPYD | c.1855_1856insAAG (p.Ala618_Ala619insGlu) c.1639_1640insAAG (p.Ala546_Ala547insGlu) c.1744_1745insAAG (p.Ala581_Ala582insGlu) c.1360_1361insAAG (p.Ala453_Ala454insGlu) | gnomAD v4 |
| 1 | g.97450110A= | CA1182873444 | DPYD | c.1854T= (p.Ala618=) c.1638T= (p.Ala546=) c.1743T= (p.Ala581=) c.1359T= (p.Ala453=) | |
| 1 | g.97450110A>C | CA419145473 | DPYD | c.1854T>G (p.Ala618=) c.1638T>G (p.Ala546=) c.1743T>G (p.Ala581=) c.1359T>G (p.Ala453=) | |
| 1 | g.97450110A>G | CA419145475 | DPYD | c.1854T>C (p.Ala618=) c.1638T>C (p.Ala546=) c.1743T>C (p.Ala581=) c.1359T>C (p.Ala453=) | dbSNP |
| 1 | g.97450110A>T | CA419145476 | DPYD | c.1854T>A (p.Ala618=) c.1638T>A (p.Ala546=) c.1743T>A (p.Ala581=) c.1359T>A (p.Ala453=) | dbSNP |
| 1 | g.97450111G>A | CA341376016 | DPYD | c.1853C>T (p.Ala618Val) c.1637C>T (p.Ala546Val) c.1742C>T (p.Ala581Val) c.1358C>T (p.Ala453Val) | |
| 1 | g.97450111G>C | CA341376017 | DPYD | c.1853C>G (p.Ala618Gly) c.1637C>G (p.Ala546Gly) c.1742C>G (p.Ala581Gly) c.1358C>G (p.Ala453Gly) | dbSNP |
| 1 | g.97450111G>T | CA341376018 | DPYD | c.1853C>A (p.Ala618Asp) c.1637C>A (p.Ala546Asp) c.1742C>A (p.Ala581Asp) c.1358C>A (p.Ala453Asp) | |
| 1 | g.97450111_97450112insTG | CA2646705579 | DPYD | c.1853_1854insAC (p.Ala619LeufsTer11) c.1637_1638insAC (p.Ala547LeufsTer11) c.1742_1743insAC (p.Ala582LeufsTer11) c.1358_1359insAC (p.Ala454LeufsTer11) | gnomAD v4 |
| 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 |