| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.97234954_97234956delinsGGA | CA1182776942 | DPYD,DPYD-AS1 | c.2338_2340delinsTCC (p.Ser780=) n.65-30460_65-30458delinsGGA c.2122_2124delinsTCC (p.Ser708=) c.2227_2229delinsTCC (p.Ser743=) c.1843_1845delinsTCC (p.Ser615=) | |
| 1 | g.97234956_97234957del | CA740770495 | DPYD,DPYD-AS1 | c.2338_2339del (p.Ser780HisfsTer17) n.65-30458_65-30457del c.2122_2123del (p.Ser708HisfsTer17) c.2227_2228del (p.Ser743HisfsTer17) c.1843_1844del (p.Ser615HisfsTer17) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.97234955_97234959delinsGAGGT | CA1182776943 | DPYD,DPYD-AS1 | c.2335_2339delinsACCTC (p.Thr779=) n.65-30459_65-30455delinsGAGGT c.2119_2123delinsACCTC (p.Thr707=) c.2224_2228delinsACCTC (p.Thr742=) c.1840_1844delinsACCTC (p.Thr614=) | |
| 1 | g.97234956A>C | CA341374591 | DPYD,DPYD-AS1 | c.2338T>G (p.Ser780Ala) n.65-30458A>C c.2122T>G (p.Ser708Ala) c.2227T>G (p.Ser743Ala) c.1843T>G (p.Ser615Ala) | |
| 1 | g.97234956A>G | CA341374592 | DPYD,DPYD-AS1 | c.2338T>C (p.Ser780Pro) n.65-30458A>G c.2122T>C (p.Ser708Pro) c.2227T>C (p.Ser743Pro) c.1843T>C (p.Ser615Pro) | |
| 1 | g.97234956A>T | CA341374593 | DPYD,DPYD-AS1 | c.2338T>A (p.Ser780Thr) n.65-30458A>T c.2122T>A (p.Ser708Thr) c.2227T>A (p.Ser743Thr) c.1843T>A (p.Ser615Thr) | |
| 1 | g.97234956_97234959delinsGC | CA16040794 | DPYD,DPYD-AS1 | c.2335_2338delinsGC (p.Thr779AlafsTer18) n.65-30458_65-30455delinsGC c.2119_2122delinsGC (p.Thr707AlafsTer18) c.2224_2227delinsGC (p.Thr742AlafsTer18) c.1840_1843delinsGC (p.Thr614AlafsTer18) | ClinVar dbSNP |
| 1 | g.97234957G>A | CA27476301 | DPYD,DPYD-AS1 | c.2337C>T (p.Thr779=) n.65-30457G>A c.2121C>T (p.Thr707=) c.2226C>T (p.Thr742=) c.1842C>T (p.Thr614=) | dbSNP gnomAD v4 |
| 1 | g.97234957G>C | CA419137814 | DPYD,DPYD-AS1 | c.2337C>G (p.Thr779=) n.65-30457G>C c.2121C>G (p.Thr707=) c.2226C>G (p.Thr742=) c.1842C>G (p.Thr614=) | dbSNP gnomAD v2 |
| 1 | g.97234957G= | CA1143861211 | DPYD,DPYD-AS1 | c.2337C= (p.Thr779=) n.65-30457G= c.2121C= (p.Thr707=) c.2226C= (p.Thr742=) c.1842C= (p.Thr614=) | |
| 1 | g.97234957G>T | CA419137813 | DPYD,DPYD-AS1 | c.2337C>A (p.Thr779=) n.65-30457G>T c.2121C>A (p.Thr707=) c.2226C>A (p.Thr742=) c.1842C>A (p.Thr614=) | |
| 1 | g.97234958G>A | CA341374595 | DPYD,DPYD-AS1 | c.2336C>T (p.Thr779Ile) n.65-30456G>A c.2120C>T (p.Thr707Ile) c.2225C>T (p.Thr742Ile) c.1841C>T (p.Thr614Ile) | dbSNP |
| 1 | g.97234958G>C | CA341374594 | DPYD,DPYD-AS1 | c.2336C>G (p.Thr779Ser) n.65-30456G>C c.2120C>G (p.Thr707Ser) c.2225C>G (p.Thr742Ser) c.1841C>G (p.Thr614Ser) | |
| 1 | g.97234958G= | CA1143364847 | DPYD,DPYD-AS1 | c.2336C= (p.Thr779=) n.65-30456G= c.2120C= (p.Thr707=) c.2225C= (p.Thr742=) c.1841C= (p.Thr614=) | |
| 1 | g.97234958G>T | CA963054 | DPYD,DPYD-AS1 | c.2336C>A (p.Thr779Asn) n.65-30456G>T c.2120C>A (p.Thr707Asn) c.2225C>A (p.Thr742Asn) c.1841C>A (p.Thr614Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97234959T>A | CA341374596 | DPYD,DPYD-AS1 | c.2335A>T (p.Thr779Ser) n.65-30455T>A c.2119A>T (p.Thr707Ser) c.2224A>T (p.Thr742Ser) c.1840A>T (p.Thr614Ser) | |
| 1 | g.97234959T>C | CA341374597 | DPYD,DPYD-AS1 | c.2335A>G (p.Thr779Ala) n.65-30455T>C c.2119A>G (p.Thr707Ala) c.2224A>G (p.Thr742Ala) c.1840A>G (p.Thr614Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.97234959T>G | CA341374598 | DPYD,DPYD-AS1 | c.2335A>C (p.Thr779Pro) n.65-30455T>G c.2119A>C (p.Thr707Pro) c.2224A>C (p.Thr742Pro) c.1840A>C (p.Thr614Pro) | |
| 1 | g.97234959T= | CA1182776945 | DPYD,DPYD-AS1 | c.2335A= (p.Thr779=) n.65-30455T= c.2119A= (p.Thr707=) c.2224A= (p.Thr742=) c.1840A= (p.Thr614=) | |
| 1 | g.97234959_97234960insTATGTGA | CA1182776946 | DPYD,DPYD-AS1 | c.2334_2335insTCACATA (p.Thr779SerfsTer21) n.65-30455_65-30454insTATGTGA c.2118_2119insTCACATA (p.Thr707SerfsTer21) c.2223_2224insTCACATA (p.Thr742SerfsTer21) c.1839_1840insTCACATA (p.Thr614SerfsTer21) | dbSNP |
| 1 | g.97234960C>A | CA419137816 | DPYD,DPYD-AS1 | c.2334G>T (p.Val778=) n.65-30454C>A c.2118G>T (p.Val706=) c.2223G>T (p.Val741=) c.1839G>T (p.Val613=) | |
| 1 | g.97234960C= | CA1148334835 | DPYD,DPYD-AS1 | c.2334G= (p.Val778=) n.65-30454C= c.2118G= (p.Val706=) c.2223G= (p.Val741=) c.1839G= (p.Val613=) | |
| 1 | g.97234960C>G | CA419137815 | DPYD,DPYD-AS1 | c.2334G>C (p.Val778=) n.65-30454C>G c.2118G>C (p.Val706=) c.2223G>C (p.Val741=) c.1839G>C (p.Val613=) | |
| 1 | g.97234960C>T | CA963055 | DPYD,DPYD-AS1 | c.2334G>A (p.Val778=) n.65-30454C>T c.2118G>A (p.Val706=) c.2223G>A (p.Val741=) c.1839G>A (p.Val613=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.97234961A>C | CA341374599 | DPYD,DPYD-AS1 | c.2333T>G (p.Val778Gly) n.65-30453A>C c.2117T>G (p.Val706Gly) c.2222T>G (p.Val741Gly) c.1838T>G (p.Val613Gly) | |
| 1 | g.97234961A>G | CA341374600 | DPYD,DPYD-AS1 | c.2333T>C (p.Val778Ala) n.65-30453A>G c.2117T>C (p.Val706Ala) c.2222T>C (p.Val741Ala) c.1838T>C (p.Val613Ala) | |
| 1 | g.97234961A>T | CA341374601 | DPYD,DPYD-AS1 | c.2333T>A (p.Val778Glu) n.65-30453A>T c.2117T>A (p.Val706Glu) c.2222T>A (p.Val741Glu) c.1838T>A (p.Val613Glu) | |
| 1 | g.97234962C>A | CA341374602 | DPYD,DPYD-AS1 | c.2332G>T (p.Val778Leu) n.65-30452C>A c.2116G>T (p.Val706Leu) c.2221G>T (p.Val741Leu) c.1837G>T (p.Val613Leu) | |
| 1 | g.97234962C>G | CA341374603 | DPYD,DPYD-AS1 | c.2332G>C (p.Val778Leu) n.65-30452C>G c.2116G>C (p.Val706Leu) c.2221G>C (p.Val741Leu) c.1837G>C (p.Val613Leu) | |
| 1 | g.97234962C>T | CA341374604 | DPYD,DPYD-AS1 | c.2332G>A (p.Val778Met) n.65-30452C>T c.2116G>A (p.Val706Met) c.2221G>A (p.Val741Met) c.1837G>A (p.Val613Met) | |
| 1 | g.97234963A= | CA1182776947 | DPYD,DPYD-AS1 | c.2331T= (p.Ala777=) n.65-30451A= c.2115T= (p.Ala705=) c.2220T= (p.Ala740=) c.1836T= (p.Ala612=) | |
| 1 | g.97234963A>C | CA419137817 | DPYD,DPYD-AS1 | c.2331T>G (p.Ala777=) n.65-30451A>C c.2115T>G (p.Ala705=) c.2220T>G (p.Ala740=) c.1836T>G (p.Ala612=) | |
| 1 | g.97234963A>G | CA963056 | DPYD,DPYD-AS1 | c.2331T>C (p.Ala777=) n.65-30451A>G c.2115T>C (p.Ala705=) c.2220T>C (p.Ala740=) c.1836T>C (p.Ala612=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97234963A>T | CA419137818 | DPYD,DPYD-AS1 | c.2331T>A (p.Ala777=) n.65-30451A>T c.2115T>A (p.Ala705=) c.2220T>A (p.Ala740=) c.1836T>A (p.Ala612=) | |
| 1 | g.97234964G>A | CA341374605 | DPYD,DPYD-AS1 | c.2330C>T (p.Ala777Val) n.65-30450G>A c.2114C>T (p.Ala705Val) c.2219C>T (p.Ala740Val) c.1835C>T (p.Ala612Val) | |
| 1 | g.97234964G>C | CA963057 | DPYD,DPYD-AS1 | c.2330C>G (p.Ala777Gly) n.65-30450G>C c.2114C>G (p.Ala705Gly) c.2219C>G (p.Ala740Gly) c.1835C>G (p.Ala612Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.97234964G= | CA1144020263 | DPYD,DPYD-AS1 | c.2330C= (p.Ala777=) n.65-30450G= c.2114C= (p.Ala705=) c.2219C= (p.Ala740=) c.1835C= (p.Ala612=) | |
| 1 | g.97234964G>T | CA963058 | DPYD,DPYD-AS1 | c.2330C>A (p.Ala777Asp) n.65-30450G>T c.2114C>A (p.Ala705Asp) c.2219C>A (p.Ala740Asp) c.1835C>A (p.Ala612Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97234965C>A | CA228087 | DPYD,DPYD-AS1 | c.2329G>T (p.Ala777Ser) n.65-30449C>A c.2113G>T (p.Ala705Ser) c.2218G>T (p.Ala740Ser) c.1834G>T (p.Ala612Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97234965C= | CA1148224409 | DPYD,DPYD-AS1 | c.2329G= (p.Ala777=) n.65-30449C= c.2113G= (p.Ala705=) c.2218G= (p.Ala740=) c.1834G= (p.Ala612=) | |
| 1 | g.97234965C>G | CA341374606 | DPYD,DPYD-AS1 | c.2329G>C (p.Ala777Pro) n.65-30449C>G c.2113G>C (p.Ala705Pro) c.2218G>C (p.Ala740Pro) c.1834G>C (p.Ala612Pro) | |
| 1 | g.97234965C>T | CA341374607 | DPYD,DPYD-AS1 | c.2329G>A (p.Ala777Thr) n.65-30449C>T c.2113G>A (p.Ala705Thr) c.2218G>A (p.Ala740Thr) c.1834G>A (p.Ala612Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.97234966T>A | CA341374608 | DPYD,DPYD-AS1 | c.2328A>T (p.Arg776Ser) n.65-30448T>A c.2112A>T (p.Arg704Ser) c.2217A>T (p.Arg739Ser) c.1833A>T (p.Arg611Ser) | |
| 1 | g.97234966T>C | CA419137819 | DPYD,DPYD-AS1 | c.2328A>G (p.Arg776=) n.65-30448T>C c.2112A>G (p.Arg704=) c.2217A>G (p.Arg739=) c.1833A>G (p.Arg611=) | |
| 1 | g.97234966T>G | CA341374609 | DPYD,DPYD-AS1 | c.2328A>C (p.Arg776Ser) n.65-30448T>G c.2112A>C (p.Arg704Ser) c.2217A>C (p.Arg739Ser) c.1833A>C (p.Arg611Ser) | |
| 1 | g.97234967C>A | CA341374610 | DPYD,DPYD-AS1 | c.2327G>T (p.Arg776Ile) n.65-30447C>A c.2111G>T (p.Arg704Ile) c.2216G>T (p.Arg739Ile) c.1832G>T (p.Arg611Ile) | |
| 1 | g.97234967C>G | CA341374611 | DPYD,DPYD-AS1 | c.2327G>C (p.Arg776Thr) n.65-30447C>G c.2111G>C (p.Arg704Thr) c.2216G>C (p.Arg739Thr) c.1832G>C (p.Arg611Thr) | |
| 1 | g.97234967C>T | CA341374612 | DPYD,DPYD-AS1 | c.2327G>A (p.Arg776Lys) n.65-30447C>T c.2111G>A (p.Arg704Lys) c.2216G>A (p.Arg739Lys) c.1832G>A (p.Arg611Lys) | |
| 1 | g.97234968T>A | CA341374613 | DPYD,DPYD-AS1 | c.2326A>T (p.Arg776Ter) n.65-30446T>A c.2110A>T (p.Arg704Ter) c.2215A>T (p.Arg739Ter) c.1831A>T (p.Arg611Ter) | |
| 1 | g.97234968T>C | CA341374614 | DPYD,DPYD-AS1 | c.2326A>G (p.Arg776Gly) n.65-30446T>C c.2110A>G (p.Arg704Gly) c.2215A>G (p.Arg739Gly) c.1831A>G (p.Arg611Gly) |