| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.97691776G>A | CA963582 | DPYD | c.703C>T (p.Arg235Trp) n.467C>T c.592C>T (p.Arg198Trp) c.208C>T (p.Arg70Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97691776G>C | CA341379307 | DPYD | c.703C>G (p.Arg235Gly) n.467C>G c.592C>G (p.Arg198Gly) c.208C>G (p.Arg70Gly) | gnomAD v4 |
| 1 | g.97691776G= | CA1139894828 | DPYD | c.703C= (p.Arg235=) n.467C= c.592C= (p.Arg198=) c.208C= (p.Arg70=) | |
| 1 | g.97691776G>T | CA419147902 | DPYD | c.703C>A (p.Arg235=) n.467C>A c.592C>A (p.Arg198=) c.208C>A (p.Arg70=) | |
| 1 | g.97691777G>A | CA419147903 | DPYD | c.702C>T (p.Phe234=) n.466C>T c.591C>T (p.Phe197=) c.207C>T (p.Phe69=) | |
| 1 | g.97691777G>C | CA341379308 | DPYD | c.702C>G (p.Phe234Leu) n.466C>G c.591C>G (p.Phe197Leu) c.207C>G (p.Phe69Leu) | gnomAD v4 |
| 1 | g.97691777G>T | CA341379309 | DPYD | c.702C>A (p.Phe234Leu) n.466C>A c.591C>A (p.Phe197Leu) c.207C>A (p.Phe69Leu) | gnomAD v4 |
| 1 | g.97691778A>C | CA341379310 | DPYD | c.701T>G (p.Phe234Cys) n.465T>G c.590T>G (p.Phe197Cys) c.206T>G (p.Phe69Cys) | |
| 1 | g.97691778A>G | CA341379311 | DPYD | c.701T>C (p.Phe234Ser) n.465T>C c.590T>C (p.Phe197Ser) c.206T>C (p.Phe69Ser) | |
| 1 | g.97691778A>T | CA341379312 | DPYD | c.701T>A (p.Phe234Tyr) n.465T>A c.590T>A (p.Phe197Tyr) c.206T>A (p.Phe69Tyr) | |
| 1 | g.97691779A>C | CA341379315 | DPYD | c.700T>G (p.Phe234Val) n.464T>G c.589T>G (p.Phe197Val) c.205T>G (p.Phe69Val) | |
| 1 | g.97691779A>G | CA341379313 | DPYD | c.700T>C (p.Phe234Leu) n.464T>C c.589T>C (p.Phe197Leu) c.205T>C (p.Phe69Leu) | |
| 1 | g.97691779A>T | CA341379314 | DPYD | c.700T>A (p.Phe234Ile) n.464T>A c.589T>A (p.Phe197Ile) c.205T>A (p.Phe69Ile) | |
| 1 | g.97691780C>A | CA341379316 | DPYD | c.699G>T (p.Gln233His) n.463G>T c.588G>T (p.Gln196His) c.204G>T (p.Gln68His) | |
| 1 | g.97691780C>G | CA341379317 | DPYD | c.699G>C (p.Gln233His) n.463G>C c.588G>C (p.Gln196His) c.204G>C (p.Gln68His) | |
| 1 | g.97691780C>T | CA419147904 | DPYD | c.699G>A (p.Gln233=) n.463G>A c.588G>A (p.Gln196=) c.204G>A (p.Gln68=) | |
| 1 | g.97691781T>A | CA341379318 | DPYD | c.698A>T (p.Gln233Leu) n.462A>T c.587A>T (p.Gln196Leu) c.203A>T (p.Gln68Leu) | |
| 1 | g.97691781T>C | CA341379319 | DPYD | c.698A>G (p.Gln233Arg) n.462A>G c.587A>G (p.Gln196Arg) c.203A>G (p.Gln68Arg) | dbSNP |
| 1 | g.97691781T>G | CA341379320 | DPYD | c.698A>C (p.Gln233Pro) n.462A>C c.587A>C (p.Gln196Pro) c.203A>C (p.Gln68Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.97691781T= | CA1182979322 | DPYD | c.698A= (p.Gln233=) n.462A= c.587A= (p.Gln196=) c.203A= (p.Gln68=) | |
| 1 | g.97691782G>A | CA341379321 | DPYD | c.697C>T (p.Gln233Ter) n.461C>T c.586C>T (p.Gln196Ter) c.202C>T (p.Gln68Ter) | |
| 1 | g.97691782G>C | CA341379322 | DPYD | c.697C>G (p.Gln233Glu) n.461C>G c.586C>G (p.Gln196Glu) c.202C>G (p.Gln68Glu) | |
| 1 | g.97691782G>T | CA341379323 | DPYD | c.697C>A (p.Gln233Lys) n.461C>A c.586C>A (p.Gln196Lys) c.202C>A (p.Gln68Lys) | |
| 1 | g.97691783A>C | CA419147907 | DPYD | c.696T>G (p.Pro232=) n.460T>G c.585T>G (p.Pro195=) c.201T>G (p.Pro67=) | |
| 1 | g.97691783A>G | CA419147906 | DPYD | c.696T>C (p.Pro232=) n.460T>C c.585T>C (p.Pro195=) c.201T>C (p.Pro67=) | |
| 1 | g.97691783A>T | CA419147905 | DPYD | c.696T>A (p.Pro232=) n.460T>A c.585T>A (p.Pro195=) c.201T>A (p.Pro67=) | |
| 1 | g.97691784G>A | CA341379324 | DPYD | c.695C>T (p.Pro232Leu) n.459C>T c.584C>T (p.Pro195Leu) c.200C>T (p.Pro67Leu) | COSMIC |
| 1 | g.97691784G>C | CA341379325 | DPYD | c.695C>G (p.Pro232Arg) n.459C>G c.584C>G (p.Pro195Arg) c.200C>G (p.Pro67Arg) | |
| 1 | g.97691784G>T | CA341379326 | DPYD | c.695C>A (p.Pro232His) n.459C>A c.584C>A (p.Pro195His) c.200C>A (p.Pro67His) | |
| 1 | g.97691785G>A | CA341379328 | DPYD | c.694C>T (p.Pro232Ser) n.458C>T c.583C>T (p.Pro195Ser) c.199C>T (p.Pro67Ser) | |
| 1 | g.97691785G>C | CA341379327 | DPYD | c.694C>G (p.Pro232Ala) n.458C>G c.583C>G (p.Pro195Ala) c.199C>G (p.Pro67Ala) | |
| 1 | g.97691785G= | CA1182979323 | DPYD | c.694C= (p.Pro232=) n.458C= c.583C= (p.Pro195=) c.199C= (p.Pro67=) | |
| 1 | g.97691785G>T | CA27624759 | DPYD | c.694C>A (p.Pro232Thr) n.458C>A c.583C>A (p.Pro195Thr) c.199C>A (p.Pro67Thr) | dbSNP gnomAD v4 |
| 1 | g.97691786A>C | CA341379329 | DPYD | c.693T>G (p.Ile231Met) n.457T>G c.582T>G (p.Ile194Met) c.198T>G (p.Ile66Met) | |
| 1 | g.97691786A>G | CA419147908 | DPYD | c.693T>C (p.Ile231=) n.457T>C c.582T>C (p.Ile194=) c.198T>C (p.Ile66=) | |
| 1 | g.97691786A>T | CA419147909 | DPYD | c.693T>A (p.Ile231=) n.457T>A c.582T>A (p.Ile194=) c.198T>A (p.Ile66=) | |
| 1 | g.97691787A>C | CA341379332 | DPYD | c.692T>G (p.Ile231Ser) n.456T>G c.581T>G (p.Ile194Ser) c.197T>G (p.Ile66Ser) | |
| 1 | g.97691787A>G | CA341379330 | DPYD | c.692T>C (p.Ile231Thr) n.456T>C c.581T>C (p.Ile194Thr) c.197T>C (p.Ile66Thr) | |
| 1 | g.97691787A>T | CA341379331 | DPYD | c.692T>A (p.Ile231Asn) n.456T>A c.581T>A (p.Ile194Asn) c.197T>A (p.Ile66Asn) | |
| 1 | g.97691788T>A | CA341379333 | DPYD | c.691A>T (p.Ile231Phe) n.455A>T c.580A>T (p.Ile194Phe) c.196A>T (p.Ile66Phe) | |
| 1 | g.97691788T>C | CA341379334 | DPYD | c.691A>G (p.Ile231Val) n.455A>G c.580A>G (p.Ile194Val) c.196A>G (p.Ile66Val) | |
| 1 | g.97691788T>G | CA341379335 | DPYD | c.691A>C (p.Ile231Leu) n.455A>C c.580A>C (p.Ile194Leu) c.196A>C (p.Ile66Leu) | |
| 1 | g.97691789T>A | CA341379336 | DPYD | c.690A>T (p.Glu230Asp) n.454A>T c.579A>T (p.Glu193Asp) c.195A>T (p.Glu65Asp) | |
| 1 | g.97691789T>C | CA419147910 | DPYD | c.690A>G (p.Glu230=) n.454A>G c.579A>G (p.Glu193=) c.195A>G (p.Glu65=) | |
| 1 | g.97691789T>G | CA341379337 | DPYD | c.690A>C (p.Glu230Asp) n.454A>C c.579A>C (p.Glu193Asp) c.195A>C (p.Glu65Asp) | |
| 1 | g.97691790T>A | CA341379338 | DPYD | c.689A>T (p.Glu230Val) n.453A>T c.578A>T (p.Glu193Val) c.194A>T (p.Glu65Val) | |
| 1 | g.97691790T>C | CA341379339 | DPYD | c.689A>G (p.Glu230Gly) n.453A>G c.578A>G (p.Glu193Gly) c.194A>G (p.Glu65Gly) | |
| 1 | g.97691790T>G | CA341379340 | DPYD | c.689A>C (p.Glu230Ala) n.453A>C c.578A>C (p.Glu193Ala) c.194A>C (p.Glu65Ala) | |
| 1 | g.97691791C>A | CA341379341 | DPYD | c.688G>T (p.Glu230Ter) n.452G>T c.577G>T (p.Glu193Ter) c.193G>T (p.Glu65Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.97691791C>G | CA341379342 | DPYD | c.688G>C (p.Glu230Gln) n.452G>C c.577G>C (p.Glu193Gln) c.193G>C (p.Glu65Gln) |