Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
1 | g.97305278A>C | CA419137416 | DPYD,DPYD-AS1 | c.2280T>G (p.Thr760=) n.129-911A>C c.2064T>G (p.Thr688=) c.2169T>G (p.Thr723=) c.1785T>G (p.Thr595=) | |
1 | g.97305278A>G | CA419137417 | DPYD,DPYD-AS1 | c.2280T>C (p.Thr760=) n.129-911A>G c.2064T>C (p.Thr688=) c.2169T>C (p.Thr723=) c.1785T>C (p.Thr595=) | |
1 | g.97305278A>T | CA419137418 | DPYD,DPYD-AS1 | c.2280T>A (p.Thr760=) n.129-911A>T c.2064T>A (p.Thr688=) c.2169T>A (p.Thr723=) c.1785T>A (p.Thr595=) | dbSNP |
1 | g.97305279G>A | CA963080 | DPYD,DPYD-AS1 | c.2279C>T (p.Thr760Ile) n.129-910G>A c.2063C>T (p.Thr688Ile) c.2168C>T (p.Thr723Ile) c.1784C>T (p.Thr595Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97305279G>C | CA963081 | DPYD,DPYD-AS1 | c.2279C>G (p.Thr760Ser) n.129-910G>C c.2063C>G (p.Thr688Ser) c.2168C>G (p.Thr723Ser) c.1784C>G (p.Thr595Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.97305279G= | CA1141291841 | DPYD,DPYD-AS1 | c.2279C= (p.Thr760=) n.129-910G= c.2063C= (p.Thr688=) c.2168C= (p.Thr723=) c.1784C= (p.Thr595=) | |
1 | g.97305279G>T | CA341375043 | DPYD,DPYD-AS1 | c.2279C>A (p.Thr760Asn) n.129-910G>T c.2063C>A (p.Thr688Asn) c.2168C>A (p.Thr723Asn) c.1784C>A (p.Thr595Asn) | dbSNP |
1 | g.97305280T>A | CA341375046 | DPYD,DPYD-AS1 | c.2278A>T (p.Thr760Ser) n.129-909T>A c.2062A>T (p.Thr688Ser) c.2167A>T (p.Thr723Ser) c.1783A>T (p.Thr595Ser) | dbSNP |
1 | g.97305280T>C | CA341375045 | DPYD,DPYD-AS1 | c.2278A>G (p.Thr760Ala) n.129-909T>C c.2062A>G (p.Thr688Ala) c.2167A>G (p.Thr723Ala) c.1783A>G (p.Thr595Ala) | dbSNP gnomAD v2 |
1 | g.97305280T>G | CA341375044 | DPYD,DPYD-AS1 | c.2278A>C (p.Thr760Pro) n.129-909T>G c.2062A>C (p.Thr688Pro) c.2167A>C (p.Thr723Pro) c.1783A>C (p.Thr595Pro) | |
1 | g.97305280T= | CA1182808447 | DPYD,DPYD-AS1 | c.2278A= (p.Thr760=) n.129-909T= c.2062A= (p.Thr688=) c.2167A= (p.Thr723=) c.1783A= (p.Thr595=) | |
1 | g.97305281T>A | CA419137419 | DPYD,DPYD-AS1 | c.2277A>T (p.Arg759=) n.129-908T>A c.2061A>T (p.Arg687=) c.2166A>T (p.Arg722=) c.1782A>T (p.Arg594=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.97305281T>C | CA419137420 | DPYD,DPYD-AS1 | c.2277A>G (p.Arg759=) n.129-908T>C c.2061A>G (p.Arg687=) c.2166A>G (p.Arg722=) c.1782A>G (p.Arg594=) | |
1 | g.97305281T>G | CA419137421 | DPYD,DPYD-AS1 | c.2277A>C (p.Arg759=) n.129-908T>G c.2061A>C (p.Arg687=) c.2166A>C (p.Arg722=) c.1782A>C (p.Arg594=) | |
1 | g.97305281T= | CA1182808448 | DPYD,DPYD-AS1 | c.2277A= (p.Arg759=) n.129-908T= c.2061A= (p.Arg687=) c.2166A= (p.Arg722=) c.1782A= (p.Arg594=) | |
1 | g.97305282C>A | CA341375047 | DPYD,DPYD-AS1 | c.2276G>T (p.Arg759Leu) n.129-907C>A c.2060G>T (p.Arg687Leu) c.2165G>T (p.Arg722Leu) c.1781G>T (p.Arg594Leu) | dbSNP |
1 | g.97305282C= | CA1143538183 | DPYD,DPYD-AS1 | c.2276G= (p.Arg759=) n.129-907C= c.2060G= (p.Arg687=) c.2165G= (p.Arg722=) c.1781G= (p.Arg594=) | |
1 | g.97305282C>G | CA341375048 | DPYD,DPYD-AS1 | c.2276G>C (p.Arg759Pro) n.129-907C>G c.2060G>C (p.Arg687Pro) c.2165G>C (p.Arg722Pro) c.1781G>C (p.Arg594Pro) | |
1 | g.97305282C>T | CA963082 | DPYD,DPYD-AS1 | c.2276G>A (p.Arg759Gln) n.129-907C>T c.2060G>A (p.Arg687Gln) c.2165G>A (p.Arg722Gln) c.1781G>A (p.Arg594Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.97305283G>A | CA963083 | DPYD,DPYD-AS1 | c.2275C>T (p.Arg759Ter) n.129-906G>A c.2059C>T (p.Arg687Ter) c.2164C>T (p.Arg722Ter) c.1780C>T (p.Arg594Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.97305283G>C | CA341375049 | DPYD,DPYD-AS1 | c.2275C>G (p.Arg759Gly) n.129-906G>C c.2059C>G (p.Arg687Gly) c.2164C>G (p.Arg722Gly) c.1780C>G (p.Arg594Gly) | dbSNP |