| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.97450058C>A | CA341375897 | DPYD | c.1905+1G>T (n.1905+1G>T) c.1689+1G>T (n.1689+1G>T) c.1794+1G>T (n.1794+1G>T) c.1410+1G>T (n.1410+1G>T) | dbSNP gnomAD v4 |
| 1 | g.97450058C= | CA1140003401 | DPYD | c.1905+1G= (n.1905+1G=) c.1689+1G= (n.1689+1G=) c.1794+1G= (n.1794+1G=) c.1410+1G= (n.1410+1G=) | |
| 1 | g.97450058C>G | CA963213 | DPYD | c.1905+1G>C (n.1905+1G>C) c.1689+1G>C (n.1689+1G>C) c.1794+1G>C (n.1794+1G>C) c.1410+1G>C (n.1410+1G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.97450058C>T | CA114277 | DPYD | c.1905+1G>A (n.1905+1G>A) c.1689+1G>A (n.1689+1G>A) c.1794+1G>A (n.1794+1G>A) c.1410+1G>A (n.1410+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97450059G>A | CA228109 | DPYD | c.1905C>T (p.Asn635=) c.1689C>T (p.Asn563=) c.1794C>T (p.Asn598=) c.1410C>T (p.Asn470=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97450059G>C | CA963214 | DPYD | c.1905C>G (p.Asn635Lys) c.1689C>G (p.Asn563Lys) c.1794C>G (p.Asn598Lys) c.1410C>G (p.Asn470Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97450059G= | CA1140003403 | DPYD | c.1905C= (p.Asn635=) c.1689C= (p.Asn563=) c.1794C= (p.Asn598=) c.1410C= (p.Asn470=) | |
| 1 | g.97450059G>T | CA341375898 | DPYD | c.1905C>A (p.Asn635Lys) c.1689C>A (p.Asn563Lys) c.1794C>A (p.Asn598Lys) c.1410C>A (p.Asn470Lys) | |
| 1 | g.97450060T>A | CA341375899 | DPYD | c.1904A>T (p.Asn635Ile) c.1688A>T (p.Asn563Ile) c.1793A>T (p.Asn598Ile) c.1409A>T (p.Asn470Ile) | dbSNP |
| 1 | g.97450060T>C | CA341375901 | DPYD | c.1904A>G (p.Asn635Ser) c.1688A>G (p.Asn563Ser) c.1793A>G (p.Asn598Ser) c.1409A>G (p.Asn470Ser) | |
| 1 | g.97450060T>G | CA341375900 | DPYD | c.1904A>C (p.Asn635Thr) c.1688A>C (p.Asn563Thr) c.1793A>C (p.Asn598Thr) c.1409A>C (p.Asn470Thr) | |
| 1 | g.97450061dup | CA2646705577 | DPYD | c.1904dup (p.Asn635LysfsTer6) c.1688dup (p.Asn563LysfsTer6) c.1793dup (p.Asn598LysfsTer6) c.1409dup (p.Asn470LysfsTer6) | gnomAD v4 |
| 1 | g.97450061T>A | CA341375902 | DPYD | c.1903A>T (p.Asn635Tyr) c.1687A>T (p.Asn563Tyr) c.1792A>T (p.Asn598Tyr) c.1408A>T (p.Asn470Tyr) | |
| 1 | g.97450061T>C | CA341375903 | DPYD | c.1903A>G (p.Asn635Asp) c.1687A>G (p.Asn563Asp) c.1792A>G (p.Asn598Asp) c.1408A>G (p.Asn470Asp) | gnomAD v4 |
| 1 | g.97450061T>G | CA341375904 | DPYD | c.1903A>C (p.Asn635His) c.1687A>C (p.Asn563His) c.1792A>C (p.Asn598His) c.1408A>C (p.Asn470His) | |
| 1 | g.97450062G>A | CA419145333 | DPYD | c.1902C>T (p.Asp634=) c.1686C>T (p.Asp562=) c.1791C>T (p.Asp597=) c.1407C>T (p.Asp469=) | dbSNP |
| 1 | g.97450062G>C | CA341375905 | DPYD | c.1902C>G (p.Asp634Glu) c.1686C>G (p.Asp562Glu) c.1791C>G (p.Asp597Glu) c.1407C>G (p.Asp469Glu) | dbSNP |
| 1 | g.97450062G>T | CA341375906 | DPYD | c.1902C>A (p.Asp634Glu) c.1686C>A (p.Asp562Glu) c.1791C>A (p.Asp597Glu) c.1407C>A (p.Asp469Glu) | gnomAD v4 |
| 1 | g.97450063T>A | CA341375907 | DPYD | c.1901A>T (p.Asp634Val) c.1685A>T (p.Asp562Val) c.1790A>T (p.Asp597Val) c.1406A>T (p.Asp469Val) | dbSNP |
| 1 | g.97450063T>C | CA963215 | DPYD | c.1901A>G (p.Asp634Gly) c.1685A>G (p.Asp562Gly) c.1790A>G (p.Asp597Gly) c.1406A>G (p.Asp469Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97450063T>G | CA341375908 | DPYD | c.1901A>C (p.Asp634Ala) c.1685A>C (p.Asp562Ala) c.1790A>C (p.Asp597Ala) c.1406A>C (p.Asp469Ala) | dbSNP |
| 1 | g.97450063T= | CA1143408435 | DPYD | c.1901A= (p.Asp634=) c.1685A= (p.Asp562=) c.1790A= (p.Asp597=) c.1406A= (p.Asp469=) | |
| 1 | g.97450064C>A | CA341375909 | DPYD | c.1900G>T (p.Asp634Tyr) c.1684G>T (p.Asp562Tyr) c.1789G>T (p.Asp597Tyr) c.1405G>T (p.Asp469Tyr) | COSMIC |
| 1 | g.97450064C>G | CA341375910 | DPYD | c.1900G>C (p.Asp634His) c.1684G>C (p.Asp562His) c.1789G>C (p.Asp597His) c.1405G>C (p.Asp469His) | dbSNP gnomAD v4 |
| 1 | g.97450064C>T | CA341375911 | DPYD | c.1900G>A (p.Asp634Asn) c.1684G>A (p.Asp562Asn) c.1789G>A (p.Asp597Asn) c.1405G>A (p.Asp469Asn) | |
| 1 | g.97450065T>A | CA419145340 | DPYD | c.1899A>T (p.Pro633=) c.1683A>T (p.Pro561=) c.1788A>T (p.Pro596=) c.1404A>T (p.Pro468=) | dbSNP |
| 1 | g.97450065T>C | CA419145341 | DPYD | c.1899A>G (p.Pro633=) c.1683A>G (p.Pro561=) c.1788A>G (p.Pro596=) c.1404A>G (p.Pro468=) | |
| 1 | g.97450065T>G | CA419145342 | DPYD | c.1899A>C (p.Pro633=) c.1683A>C (p.Pro561=) c.1788A>C (p.Pro596=) c.1404A>C (p.Pro468=) | |
| 1 | g.97450065T= | CA1182873430 | DPYD | c.1899A= (p.Pro633=) c.1683A= (p.Pro561=) c.1788A= (p.Pro596=) c.1404A= (p.Pro468=) | |
| 1 | g.97450065_97450066delinsTG | CA1182873429 | DPYD | c.1898_1899delinsCA (p.Pro633=) c.1682_1683delinsCA (p.Pro561=) c.1787_1788delinsCA (p.Pro596=) c.1403_1404delinsCA (p.Pro468=) | |
| 1 | g.97450066G>A | CA341375914 | DPYD | c.1898C>T (p.Pro633Leu) c.1682C>T (p.Pro561Leu) c.1787C>T (p.Pro596Leu) c.1403C>T (p.Pro468Leu) | dbSNP |
| 1 | g.97450066G>C | CA341375913 | DPYD | c.1898C>G (p.Pro633Arg) c.1682C>G (p.Pro561Arg) c.1787C>G (p.Pro596Arg) c.1403C>G (p.Pro468Arg) | dbSNP |
| 1 | g.97450066G>T | CA341375912 | DPYD | c.1898C>A (p.Pro633Gln) c.1682C>A (p.Pro561Gln) c.1787C>A (p.Pro596Gln) c.1403C>A (p.Pro468Gln) | |
| 1 | g.97450066_97450067delinsGG | CA1140803049 | DPYD | c.1897_1898delinsCC (p.Pro633=) c.1681_1682delinsCC (p.Pro561=) c.1786_1787delinsCC (p.Pro596=) c.1402_1403delinsCC (p.Pro468=) | |
| 1 | g.97450067del | CA27501721 | DPYD | c.1898del (p.Pro633GlnfsTer5) c.1682del (p.Pro561GlnfsTer5) c.1787del (p.Pro596GlnfsTer5) c.1403del (p.Pro468GlnfsTer5) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.97450067G>A | CA341375915 | DPYD | c.1897C>T (p.Pro633Ser) c.1681C>T (p.Pro561Ser) c.1786C>T (p.Pro596Ser) c.1402C>T (p.Pro468Ser) | dbSNP COSMIC |
| 1 | g.97450067G>C | CA341375916 | DPYD | c.1897C>G (p.Pro633Ala) c.1681C>G (p.Pro561Ala) c.1786C>G (p.Pro596Ala) c.1402C>G (p.Pro468Ala) | dbSNP |
| 1 | g.97450067G>T | CA341375917 | DPYD | c.1897C>A (p.Pro633Thr) c.1681C>A (p.Pro561Thr) c.1786C>A (p.Pro596Thr) c.1402C>A (p.Pro468Thr) | dbSNP |
| 1 | g.97450068A= | CA1140467931 | DPYD | c.1896T= (p.Phe632=) c.1680T= (p.Phe560=) c.1785T= (p.Phe595=) c.1401T= (p.Phe467=) | |
| 1 | g.97450068A>C | CA341375918 | DPYD | c.1896T>G (p.Phe632Leu) c.1680T>G (p.Phe560Leu) c.1785T>G (p.Phe595Leu) c.1401T>G (p.Phe467Leu) | |
| 1 | g.97450068A>G | CA228112 | DPYD | c.1896T>C (p.Phe632=) c.1680T>C (p.Phe560=) c.1785T>C (p.Phe595=) c.1401T>C (p.Phe467=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97450068A>T | CA341375919 | DPYD | c.1896T>A (p.Phe632Leu) c.1680T>A (p.Phe560Leu) c.1785T>A (p.Phe595Leu) c.1401T>A (p.Phe467Leu) | |
| 1 | g.97450069A>C | CA341375920 | DPYD | c.1895T>G (p.Phe632Cys) c.1679T>G (p.Phe560Cys) c.1784T>G (p.Phe595Cys) c.1400T>G (p.Phe467Cys) | |
| 1 | g.97450069A>G | CA341375921 | DPYD | c.1895T>C (p.Phe632Ser) c.1679T>C (p.Phe560Ser) c.1784T>C (p.Phe595Ser) c.1400T>C (p.Phe467Ser) | gnomAD v4 |
| 1 | g.97450069A>T | CA341375922 | DPYD | c.1895T>A (p.Phe632Tyr) c.1679T>A (p.Phe560Tyr) c.1784T>A (p.Phe595Tyr) c.1400T>A (p.Phe467Tyr) | |
| 1 | g.97450070A>C | CA341375923 | DPYD | c.1894T>G (p.Phe632Val) c.1678T>G (p.Phe560Val) c.1783T>G (p.Phe595Val) c.1399T>G (p.Phe467Val) | |
| 1 | g.97450070A>G | CA341375924 | DPYD | c.1894T>C (p.Phe632Leu) c.1678T>C (p.Phe560Leu) c.1783T>C (p.Phe595Leu) c.1399T>C (p.Phe467Leu) | |
| 1 | g.97450070A>T | CA341375925 | DPYD | c.1894T>A (p.Phe632Ile) c.1678T>A (p.Phe560Ile) c.1783T>A (p.Phe595Ile) c.1399T>A (p.Phe467Ile) | dbSNP |
| 1 | g.97450071G>A | CA27501722 | DPYD | c.1893C>T (p.Asp631=) c.1677C>T (p.Asp559=) c.1782C>T (p.Asp594=) c.1398C>T (p.Asp466=) | dbSNP gnomAD v4 |
| 1 | g.97450071G>C | CA341375926 | DPYD | c.1893C>G (p.Asp631Glu) c.1677C>G (p.Asp559Glu) c.1782C>G (p.Asp594Glu) c.1398C>G (p.Asp466Glu) | dbSNP COSMIC |