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.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 |
| 1 | g.97450071G= | CA1182873431 | DPYD | c.1893C= (p.Asp631=) c.1677C= (p.Asp559=) c.1782C= (p.Asp594=) c.1398C= (p.Asp466=) | |
| 1 | g.97450071G>T | CA341375927 | DPYD | c.1893C>A (p.Asp631Glu) c.1677C>A (p.Asp559Glu) c.1782C>A (p.Asp594Glu) c.1398C>A (p.Asp466Glu) | COSMIC |
| 1 | g.97450072T>A | CA341375928 | DPYD | c.1892A>T (p.Asp631Val) c.1676A>T (p.Asp559Val) c.1781A>T (p.Asp594Val) c.1397A>T (p.Asp466Val) | dbSNP |
| 1 | g.97450072T>C | CA341375930 | DPYD | c.1892A>G (p.Asp631Gly) c.1676A>G (p.Asp559Gly) c.1781A>G (p.Asp594Gly) c.1397A>G (p.Asp466Gly) | |
| 1 | g.97450072T>G | CA341375929 | DPYD | c.1892A>C (p.Asp631Ala) c.1676A>C (p.Asp559Ala) c.1781A>C (p.Asp594Ala) c.1397A>C (p.Asp466Ala) | dbSNP |
| 1 | g.97450073C>A | CA341375931 | DPYD | c.1891G>T (p.Asp631Tyr) c.1675G>T (p.Asp559Tyr) c.1780G>T (p.Asp594Tyr) c.1396G>T (p.Asp466Tyr) | dbSNP |
| 1 | g.97450073C= | CA1182873432 | DPYD | c.1891G= (p.Asp631=) c.1675G= (p.Asp559=) c.1780G= (p.Asp594=) c.1396G= (p.Asp466=) | |
| 1 | g.97450073C>G | CA341375932 | DPYD | c.1891G>C (p.Asp631His) c.1675G>C (p.Asp559His) c.1780G>C (p.Asp594His) c.1396G>C (p.Asp466His) | dbSNP |
| 1 | g.97450073C>T | CA341375933 | DPYD | c.1891G>A (p.Asp631Asn) c.1675G>A (p.Asp559Asn) c.1780G>A (p.Asp594Asn) c.1396G>A (p.Asp466Asn) | dbSNP |
| 1 | g.97450074A>C | CA419145351 | DPYD | c.1890T>G (p.Ala630=) c.1674T>G (p.Ala558=) c.1779T>G (p.Ala593=) c.1395T>G (p.Ala465=) | |
| 1 | g.97450074A>G | CA419145352 | DPYD | c.1890T>C (p.Ala630=) c.1674T>C (p.Ala558=) c.1779T>C (p.Ala593=) c.1395T>C (p.Ala465=) | dbSNP |
| 1 | g.97450074A>T | CA419145353 | DPYD | c.1890T>A (p.Ala630=) c.1674T>A (p.Ala558=) c.1779T>A (p.Ala593=) c.1395T>A (p.Ala465=) | dbSNP |
| 1 | g.97450075G>A | CA341375934 | DPYD | c.1889C>T (p.Ala630Val) c.1673C>T (p.Ala558Val) c.1778C>T (p.Ala593Val) c.1394C>T (p.Ala465Val) | dbSNP |
| 1 | g.97450075G>C | CA341375935 | DPYD | c.1889C>G (p.Ala630Gly) c.1673C>G (p.Ala558Gly) c.1778C>G (p.Ala593Gly) c.1394C>G (p.Ala465Gly) | dbSNP |
| 1 | g.97450075G= | CA1182873433 | DPYD | c.1889C= (p.Ala630=) c.1673C= (p.Ala558=) c.1778C= (p.Ala593=) c.1394C= (p.Ala465=) | |
| 1 | g.97450075G>T | CA341375936 | DPYD | c.1889C>A (p.Ala630Asp) c.1673C>A (p.Ala558Asp) c.1778C>A (p.Ala593Asp) c.1394C>A (p.Ala465Asp) | |
| 1 | g.97450076C>A | CA341375937 | DPYD | c.1888G>T (p.Ala630Ser) c.1672G>T (p.Ala558Ser) c.1777G>T (p.Ala593Ser) c.1393G>T (p.Ala465Ser) | dbSNP |
| 1 | g.97450076C= | CA1182873434 | DPYD | c.1888G= (p.Ala630=) c.1672G= (p.Ala558=) c.1777G= (p.Ala593=) c.1393G= (p.Ala465=) | |
| 1 | g.97450076C>G | CA341375938 | DPYD | c.1888G>C (p.Ala630Pro) c.1672G>C (p.Ala558Pro) c.1777G>C (p.Ala593Pro) c.1393G>C (p.Ala465Pro) | dbSNP |
| 1 | g.97450076C>T | CA341375939 | DPYD | c.1888G>A (p.Ala630Thr) c.1672G>A (p.Ala558Thr) c.1777G>A (p.Ala593Thr) c.1393G>A (p.Ala465Thr) | dbSNP |
| 1 | g.97450077C>A | CA341375940 | DPYD | c.1887G>T (p.Lys629Asn) c.1671G>T (p.Lys557Asn) c.1776G>T (p.Lys592Asn) c.1392G>T (p.Lys464Asn) | COSMIC |
| 1 | g.97450077C>G | CA341375941 | DPYD | c.1887G>C (p.Lys629Asn) c.1671G>C (p.Lys557Asn) c.1776G>C (p.Lys592Asn) c.1392G>C (p.Lys464Asn) | |
| 1 | g.97450077C>T | CA419145357 | DPYD | c.1887G>A (p.Lys629=) c.1671G>A (p.Lys557=) c.1776G>A (p.Lys592=) c.1392G>A (p.Lys464=) | |
| 1 | g.97450078T>A | CA341375944 | DPYD | c.1886A>T (p.Lys629Met) c.1670A>T (p.Lys557Met) c.1775A>T (p.Lys592Met) c.1391A>T (p.Lys464Met) | dbSNP gnomAD v4 |
| 1 | g.97450078T>C | CA341375942 | DPYD | c.1886A>G (p.Lys629Arg) c.1670A>G (p.Lys557Arg) c.1775A>G (p.Lys592Arg) c.1391A>G (p.Lys464Arg) | |
| 1 | g.97450078T>G | CA341375943 | DPYD | c.1886A>C (p.Lys629Thr) c.1670A>C (p.Lys557Thr) c.1775A>C (p.Lys592Thr) c.1391A>C (p.Lys464Thr) | |
| 1 | g.97450079T>A | CA341375945 | DPYD | c.1885A>T (p.Lys629Ter) c.1669A>T (p.Lys557Ter) c.1774A>T (p.Lys592Ter) c.1390A>T (p.Lys464Ter) | |
| 1 | g.97450079T>C | CA341375946 | DPYD | c.1885A>G (p.Lys629Glu) c.1669A>G (p.Lys557Glu) c.1774A>G (p.Lys592Glu) c.1390A>G (p.Lys464Glu) | |
| 1 | g.97450079T>G | CA341375947 | DPYD | c.1885A>C (p.Lys629Gln) c.1669A>C (p.Lys557Gln) c.1774A>C (p.Lys592Gln) c.1390A>C (p.Lys464Gln) |