Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.97305264A>C | CA341375014 | DPYD,DPYD-AS1 | c.2294T>G (p.Val765Gly) n.129-925A>C c.2078T>G (p.Val693Gly) c.2183T>G (p.Val728Gly) c.1799T>G (p.Val600Gly) | |
1 | g.97305264A>G | CA341375015 | DPYD,DPYD-AS1 | c.2294T>C (p.Val765Ala) n.129-925A>G c.2078T>C (p.Val693Ala) c.2183T>C (p.Val728Ala) c.1799T>C (p.Val600Ala) | |
1 | g.97305264A>T | CA341375016 | DPYD,DPYD-AS1 | c.2294T>A (p.Val765Glu) n.129-925A>T c.2078T>A (p.Val693Glu) c.2183T>A (p.Val728Glu) c.1799T>A (p.Val600Glu) | dbSNP |
1 | g.97305265del | CA2574442133 | DPYD,DPYD-AS1 | c.2293del (p.Val765CysfsTer11) n.129-924del c.2077del (p.Val693CysfsTer11) c.2182del (p.Val728CysfsTer11) c.1798del (p.Val600CysfsTer11) | |
1 | g.97305265C>A | CA341375017 | DPYD,DPYD-AS1 | c.2293G>T (p.Val765Leu) n.129-924C>A c.2077G>T (p.Val693Leu) c.2182G>T (p.Val728Leu) c.1798G>T (p.Val600Leu) | dbSNP |
1 | g.97305265C= | CA1182808441 | DPYD,DPYD-AS1 | c.2293G= (p.Val765=) n.129-924C= c.2077G= (p.Val693=) c.2182G= (p.Val728=) c.1798G= (p.Val600=) | |
1 | g.97305265C>G | CA341375018 | DPYD,DPYD-AS1 | c.2293G>C (p.Val765Leu) n.129-924C>G c.2077G>C (p.Val693Leu) c.2182G>C (p.Val728Leu) c.1798G>C (p.Val600Leu) | dbSNP |
1 | g.97305265C>T | CA341375019 | DPYD,DPYD-AS1 | c.2293G>A (p.Val765Met) n.129-924C>T c.2077G>A (p.Val693Met) c.2182G>A (p.Val728Met) c.1798G>A (p.Val600Met) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.97305266T>A | CA419137406 | DPYD,DPYD-AS1 | c.2292A>T (p.Gly764=) n.129-923T>A c.2076A>T (p.Gly692=) c.2181A>T (p.Gly727=) c.1797A>T (p.Gly599=) | |
1 | g.97305266T>C | CA419137407 | DPYD,DPYD-AS1 | c.2292A>G (p.Gly764=) n.129-923T>C c.2076A>G (p.Gly692=) c.2181A>G (p.Gly727=) c.1797A>G (p.Gly599=) | |
1 | g.97305266T>G | CA419137408 | DPYD,DPYD-AS1 | c.2292A>C (p.Gly764=) n.129-923T>G c.2076A>C (p.Gly692=) c.2181A>C (p.Gly727=) c.1797A>C (p.Gly599=) | |
1 | g.97305267C>A | CA341375020 | DPYD,DPYD-AS1 | c.2291G>T (p.Gly764Val) n.129-922C>A c.2075G>T (p.Gly692Val) c.2180G>T (p.Gly727Val) c.1796G>T (p.Gly599Val) | dbSNP gnomAD v4 |
1 | g.97305267C= | CA1182808442 | DPYD,DPYD-AS1 | c.2291G= (p.Gly764=) n.129-922C= c.2075G= (p.Gly692=) c.2180G= (p.Gly727=) c.1796G= (p.Gly599=) | |
1 | g.97305267C>G | CA341375021 | DPYD,DPYD-AS1 | c.2291G>C (p.Gly764Ala) n.129-922C>G c.2075G>C (p.Gly692Ala) c.2180G>C (p.Gly727Ala) c.1796G>C (p.Gly599Ala) | dbSNP |
1 | g.97305267C>T | CA27484628 | DPYD,DPYD-AS1 | c.2291G>A (p.Gly764Glu) n.129-922C>T c.2075G>A (p.Gly692Glu) c.2180G>A (p.Gly727Glu) c.1796G>A (p.Gly599Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97305268C>A | CA341375022 | DPYD,DPYD-AS1 | c.2290G>T (p.Gly764Ter) n.129-921C>A c.2074G>T (p.Gly692Ter) c.2179G>T (p.Gly727Ter) c.1795G>T (p.Gly599Ter) | dbSNP |
1 | g.97305268C>G | CA341375023 | DPYD,DPYD-AS1 | c.2290G>C (p.Gly764Arg) n.129-921C>G c.2074G>C (p.Gly692Arg) c.2179G>C (p.Gly727Arg) c.1795G>C (p.Gly599Arg) | |
1 | g.97305268C>T | CA341375024 | DPYD,DPYD-AS1 | c.2290G>A (p.Gly764Arg) n.129-921C>T c.2074G>A (p.Gly692Arg) c.2179G>A (p.Gly727Arg) c.1795G>A (p.Gly599Arg) | dbSNP |
1 | g.97305269T>A | CA419137409 | DPYD,DPYD-AS1 | c.2289A>T (p.Gly763=) n.129-920T>A c.2073A>T (p.Gly691=) c.2178A>T (p.Gly726=) c.1794A>T (p.Gly598=) | |
1 | g.97305269T>C | CA419137410 | DPYD,DPYD-AS1 | c.2289A>G (p.Gly763=) n.129-920T>C c.2073A>G (p.Gly691=) c.2178A>G (p.Gly726=) c.1794A>G (p.Gly598=) | dbSNP |
1 | g.97305269T>G | CA419137411 | DPYD,DPYD-AS1 | c.2289A>C (p.Gly763=) n.129-920T>G c.2073A>C (p.Gly691=) c.2178A>C (p.Gly726=) c.1794A>C (p.Gly598=) | |
1 | g.97305270C>A | CA341375025 | DPYD,DPYD-AS1 | c.2288G>T (p.Gly763Val) n.129-919C>A c.2072G>T (p.Gly691Val) c.2177G>T (p.Gly726Val) c.1793G>T (p.Gly598Val) | |
1 | g.97305270C= | CA1182808443 | DPYD,DPYD-AS1 | c.2288G= (p.Gly763=) n.129-919C= c.2072G= (p.Gly691=) c.2177G= (p.Gly726=) c.1793G= (p.Gly598=) | |
1 | g.97305270C>G | CA341375026 | DPYD,DPYD-AS1 | c.2288G>C (p.Gly763Ala) n.129-919C>G c.2072G>C (p.Gly691Ala) c.2177G>C (p.Gly726Ala) c.1793G>C (p.Gly598Ala) | dbSNP gnomAD v4 |
1 | g.97305270C>T | CA963078 | DPYD,DPYD-AS1 | c.2288G>A (p.Gly763Glu) n.129-919C>T c.2072G>A (p.Gly691Glu) c.2177G>A (p.Gly726Glu) c.1793G>A (p.Gly598Glu) | dbSNP ExAC |
1 | g.97305271C>A | CA341375027 | DPYD,DPYD-AS1 | c.2287G>T (p.Gly763Ter) n.129-918C>A c.2071G>T (p.Gly691Ter) c.2176G>T (p.Gly726Ter) c.1792G>T (p.Gly598Ter) | |
1 | g.97305271C= | CA1182808444 | DPYD,DPYD-AS1 | c.2287G= (p.Gly763=) n.129-918C= c.2071G= (p.Gly691=) c.2176G= (p.Gly726=) c.1792G= (p.Gly598=) | |
1 | g.97305271C>G | CA341375028 | DPYD,DPYD-AS1 | c.2287G>C (p.Gly763Arg) n.129-918C>G c.2071G>C (p.Gly691Arg) c.2176G>C (p.Gly726Arg) c.1792G>C (p.Gly598Arg) | |
1 | g.97305271C>T | CA341375029 | DPYD,DPYD-AS1 | c.2287G>A (p.Gly763Arg) n.129-918C>T c.2071G>A (p.Gly691Arg) c.2176G>A (p.Gly726Arg) c.1792G>A (p.Gly598Arg) | dbSNP |
1 | g.97305271_97305272insT | CA16040795 | DPYD,DPYD-AS1 | c.2286_2287insA (p.Gly763ArgfsTer?) n.129-918_129-917insT c.2070_2071insA (p.Gly691ArgfsTer?) c.2175_2176insA (p.Gly726ArgfsTer?) c.1791_1792insA (p.Gly598ArgfsTer?) | ClinVar dbSNP |
1 | g.97305272A>C | CA341375030 | DPYD,DPYD-AS1 | c.2286T>G (p.Tyr762Ter) n.129-917A>C c.2070T>G (p.Tyr690Ter) c.2175T>G (p.Tyr725Ter) c.1791T>G (p.Tyr597Ter) | |
1 | g.97305272A>G | CA419137412 | DPYD,DPYD-AS1 | c.2286T>C (p.Tyr762=) n.129-917A>G c.2070T>C (p.Tyr690=) c.2175T>C (p.Tyr725=) c.1791T>C (p.Tyr597=) | gnomAD v4 |
1 | g.97305272A>T | CA341375031 | DPYD,DPYD-AS1 | c.2286T>A (p.Tyr762Ter) n.129-917A>T c.2070T>A (p.Tyr690Ter) c.2175T>A (p.Tyr725Ter) c.1791T>A (p.Tyr597Ter) | |
1 | g.97305273T>A | CA341375034 | DPYD,DPYD-AS1 | c.2285A>T (p.Tyr762Phe) n.129-916T>A c.2069A>T (p.Tyr690Phe) c.2174A>T (p.Tyr725Phe) c.1790A>T (p.Tyr597Phe) | |
1 | g.97305273T>C | CA341375032 | DPYD,DPYD-AS1 | c.2285A>G (p.Tyr762Cys) n.129-916T>C c.2069A>G (p.Tyr690Cys) c.2174A>G (p.Tyr725Cys) c.1790A>G (p.Tyr597Cys) | gnomAD v4 |
1 | g.97305273T>G | CA341375033 | DPYD,DPYD-AS1 | c.2285A>C (p.Tyr762Ser) n.129-916T>G c.2069A>C (p.Tyr690Ser) c.2174A>C (p.Tyr725Ser) c.1790A>C (p.Tyr597Ser) | |
1 | g.97305274A>C | CA341375035 | DPYD,DPYD-AS1 | c.2284T>G (p.Tyr762Asp) n.129-915A>C c.2068T>G (p.Tyr690Asp) c.2173T>G (p.Tyr725Asp) c.1789T>G (p.Tyr597Asp) | |
1 | g.97305274A>G | CA341375036 | DPYD,DPYD-AS1 | c.2284T>C (p.Tyr762His) n.129-915A>G c.2068T>C (p.Tyr690His) c.2173T>C (p.Tyr725His) c.1789T>C (p.Tyr597His) | |
1 | g.97305274A>T | CA341375037 | DPYD,DPYD-AS1 | c.2284T>A (p.Tyr762Asn) n.129-915A>T c.2068T>A (p.Tyr690Asn) c.2173T>A (p.Tyr725Asn) c.1789T>A (p.Tyr597Asn) | dbSNP |
1 | g.97305275T>A | CA419137413 | DPYD,DPYD-AS1 | c.2283A>T (p.Thr761=) n.129-914T>A c.2067A>T (p.Thr689=) c.2172A>T (p.Thr724=) c.1788A>T (p.Thr596=) | |
1 | g.97305275T>C | CA963079 | DPYD,DPYD-AS1 | c.2283A>G (p.Thr761=) n.129-914T>C c.2067A>G (p.Thr689=) c.2172A>G (p.Thr724=) c.1788A>G (p.Thr596=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97305275T>G | CA419137414 | DPYD,DPYD-AS1 | c.2283A>C (p.Thr761=) n.129-914T>G c.2067A>C (p.Thr689=) c.2172A>C (p.Thr724=) c.1788A>C (p.Thr596=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.97305275T= | CA1182808445 | DPYD,DPYD-AS1 | c.2283A= (p.Thr761=) n.129-914T= c.2067A= (p.Thr689=) c.2172A= (p.Thr724=) c.1788A= (p.Thr596=) | |
1 | g.97305276G>A | CA341375038 | DPYD,DPYD-AS1 | c.2282C>T (p.Thr761Ile) n.129-913G>A c.2066C>T (p.Thr689Ile) c.2171C>T (p.Thr724Ile) c.1787C>T (p.Thr596Ile) | dbSNP |
1 | g.97305276G>C | CA341375039 | DPYD,DPYD-AS1 | c.2282C>G (p.Thr761Arg) n.129-913G>C c.2066C>G (p.Thr689Arg) c.2171C>G (p.Thr724Arg) c.1787C>G (p.Thr596Arg) | dbSNP |
1 | g.97305276G>T | CA341375040 | DPYD,DPYD-AS1 | c.2282C>A (p.Thr761Lys) n.129-913G>T c.2066C>A (p.Thr689Lys) c.2171C>A (p.Thr724Lys) c.1787C>A (p.Thr596Lys) | dbSNP |
1 | g.97305277T>A | CA341375041 | DPYD,DPYD-AS1 | c.2281A>T (p.Thr761Ser) n.129-912T>A c.2065A>T (p.Thr689Ser) c.2170A>T (p.Thr724Ser) c.1786A>T (p.Thr596Ser) | |
1 | g.97305277T>C | CA27484629 | DPYD,DPYD-AS1 | c.2281A>G (p.Thr761Ala) n.129-912T>C c.2065A>G (p.Thr689Ala) c.2170A>G (p.Thr724Ala) c.1786A>G (p.Thr596Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97305277T>G | CA341375042 | DPYD,DPYD-AS1 | c.2281A>C (p.Thr761Pro) n.129-912T>G c.2065A>C (p.Thr689Pro) c.2170A>C (p.Thr724Pro) c.1786A>C (p.Thr596Pro) | |
1 | g.97305277T= | CA1182808446 | DPYD,DPYD-AS1 | c.2281A= (p.Thr761=) n.129-912T= c.2065A= (p.Thr689=) c.2170A= (p.Thr724=) c.1786A= (p.Thr596=) |