| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.97305350_97305368delinsGTTGGTGGCTGTAACGCCA | CA1182808469 | DPYD,DPYD-AS1 | c.2190_2208delinsTGGCGTTACAGCCACCAAC (p.Asn730=) n.129-839_129-821delinsGTTGGTGGCTGTAACGCCA c.1974_1992delinsTGGCGTTACAGCCACCAAC (p.Asn658=) c.2079_2097delinsTGGCGTTACAGCCACCAAC (p.Asn693=) c.1695_1713delinsTGGCGTTACAGCCACCAAC (p.Asn565=) | |
| 1 | g.97305355_97305372del | CA524781019 | DPYD,DPYD-AS1 | c.2190_2207del (p.Gly731_Asn736del) n.129-834_129-817del c.1974_1991del (p.Gly659_Asn664del) c.2079_2096del (p.Gly694_Asn699del) c.1695_1712del (p.Gly566_Asn571del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97305363_97305364delinsAC | CA1182808473 | DPYD,DPYD-AS1 | c.2194_2195delinsGT (p.Val732=) n.129-826_129-825delinsAC c.1978_1979delinsGT (p.Val660=) c.2083_2084delinsGT (p.Val695=) c.1699_1700delinsGT (p.Val567=) | |
| 1 | g.97305364del | CA916241859 | DPYD,DPYD-AS1 | c.2194del (p.Val732LeufsTer10) n.129-825del c.1978del (p.Val660LeufsTer10) c.2083del (p.Val695LeufsTer10) c.1699del (p.Val567LeufsTer10) | dbSNP |
| 1 | g.97305364C>A | CA341375218 | DPYD,DPYD-AS1 | c.2194G>T (p.Val732Phe) n.129-825C>A c.1978G>T (p.Val660Phe) c.2083G>T (p.Val695Phe) c.1699G>T (p.Val567Phe) | |
| 1 | g.97305364C= | CA1139894831 | DPYD,DPYD-AS1 | c.2194G= (p.Val732=) n.129-825C= c.1978G= (p.Val660=) c.2083G= (p.Val695=) c.1699G= (p.Val567=) | |
| 1 | g.97305364C>G | CA341375219 | DPYD,DPYD-AS1 | c.2194G>C (p.Val732Leu) n.129-825C>G c.1978G>C (p.Val660Leu) c.2083G>C (p.Val695Leu) c.1699G>C (p.Val567Leu) | dbSNP |
| 1 | g.97305364C>T | CA228097 | DPYD,DPYD-AS1 | c.2194G>A (p.Val732Ile) n.129-825C>T c.1978G>A (p.Val660Ile) c.2083G>A (p.Val695Ile) c.1699G>A (p.Val567Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97305365G>A | CA963090 | DPYD,DPYD-AS1 | c.2193C>T (p.Gly731=) n.129-824G>A c.1977C>T (p.Gly659=) c.2082C>T (p.Gly694=) c.1698C>T (p.Gly566=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.97305365G>C | CA419137486 | DPYD,DPYD-AS1 | c.2193C>G (p.Gly731=) n.129-824G>C c.1977C>G (p.Gly659=) c.2082C>G (p.Gly694=) c.1698C>G (p.Gly566=) | |
| 1 | g.97305365G= | CA1141687191 | DPYD,DPYD-AS1 | c.2193C= (p.Gly731=) n.129-824G= c.1977C= (p.Gly659=) c.2082C= (p.Gly694=) c.1698C= (p.Gly566=) | |
| 1 | g.97305365G>T | CA419137487 | DPYD,DPYD-AS1 | c.2193C>A (p.Gly731=) n.129-824G>T c.1977C>A (p.Gly659=) c.2082C>A (p.Gly694=) c.1698C>A (p.Gly566=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97305366C>A | CA341375220 | DPYD,DPYD-AS1 | c.2192G>T (p.Gly731Val) n.129-823C>A c.1976G>T (p.Gly659Val) c.2081G>T (p.Gly694Val) c.1697G>T (p.Gly566Val) | dbSNP |
| 1 | g.97305366C= | CA1182808474 | DPYD,DPYD-AS1 | c.2192G= (p.Gly731=) n.129-823C= c.1976G= (p.Gly659=) c.2081G= (p.Gly694=) c.1697G= (p.Gly566=) | |
| 1 | g.97305366C>G | CA341375221 | DPYD,DPYD-AS1 | c.2192G>C (p.Gly731Ala) n.129-823C>G c.1976G>C (p.Gly659Ala) c.2081G>C (p.Gly694Ala) c.1697G>C (p.Gly566Ala) | dbSNP |
| 1 | g.97305366C>T | CA341375222 | DPYD,DPYD-AS1 | c.2192G>A (p.Gly731Asp) n.129-823C>T c.1976G>A (p.Gly659Asp) c.2081G>A (p.Gly694Asp) c.1697G>A (p.Gly566Asp) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.97305367C>A | CA341375223 | DPYD,DPYD-AS1 | c.2191G>T (p.Gly731Cys) n.129-822C>A c.1975G>T (p.Gly659Cys) c.2080G>T (p.Gly694Cys) c.1696G>T (p.Gly566Cys) | dbSNP |
| 1 | g.97305367C= | CA1182808475 | DPYD,DPYD-AS1 | c.2191G= (p.Gly731=) n.129-822C= c.1975G= (p.Gly659=) c.2080G= (p.Gly694=) c.1696G= (p.Gly566=) | |
| 1 | g.97305367C>G | CA341375224 | DPYD,DPYD-AS1 | c.2191G>C (p.Gly731Arg) n.129-822C>G c.1975G>C (p.Gly659Arg) c.2080G>C (p.Gly694Arg) c.1696G>C (p.Gly566Arg) | dbSNP gnomAD v4 |
| 1 | g.97305367C>T | CA341375225 | DPYD,DPYD-AS1 | c.2191G>A (p.Gly731Ser) n.129-822C>T c.1975G>A (p.Gly659Ser) c.2080G>A (p.Gly694Ser) c.1696G>A (p.Gly566Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.97305368A>C | CA341375227 | DPYD,DPYD-AS1 | c.2190T>G (p.Asn730Lys) n.129-821A>C c.1974T>G (p.Asn658Lys) c.2079T>G (p.Asn693Lys) c.1695T>G (p.Asn565Lys) | dbSNP |
| 1 | g.97305368A>G | CA419137488 | DPYD,DPYD-AS1 | c.2190T>C (p.Asn730=) n.129-821A>G c.1974T>C (p.Asn658=) c.2079T>C (p.Asn693=) c.1695T>C (p.Asn565=) | |
| 1 | g.97305368A>T | CA341375226 | DPYD,DPYD-AS1 | c.2190T>A (p.Asn730Lys) n.129-821A>T c.1974T>A (p.Asn658Lys) c.2079T>A (p.Asn693Lys) c.1695T>A (p.Asn565Lys) | dbSNP |
| 1 | g.97305369T>A | CA341375228 | DPYD,DPYD-AS1 | c.2189A>T (p.Asn730Ile) n.129-820T>A c.1973A>T (p.Asn658Ile) c.2078A>T (p.Asn693Ile) c.1694A>T (p.Asn565Ile) | dbSNP |
| 1 | g.97305369T>C | CA341375229 | DPYD,DPYD-AS1 | c.2189A>G (p.Asn730Ser) n.129-820T>C c.1973A>G (p.Asn658Ser) c.2078A>G (p.Asn693Ser) c.1694A>G (p.Asn565Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97305369T>G | CA341375230 | DPYD,DPYD-AS1 | c.2189A>C (p.Asn730Thr) n.129-820T>G c.1973A>C (p.Asn658Thr) c.2078A>C (p.Asn693Thr) c.1694A>C (p.Asn565Thr) | dbSNP |
| 1 | g.97305369T= | CA1182808476 | DPYD,DPYD-AS1 | c.2189A= (p.Asn730=) n.129-820T= c.1973A= (p.Asn658=) c.2078A= (p.Asn693=) c.1694A= (p.Asn565=) | |
| 1 | g.97305370T>A | CA341375231 | DPYD,DPYD-AS1 | c.2188A>T (p.Asn730Tyr) n.129-819T>A c.1972A>T (p.Asn658Tyr) c.2077A>T (p.Asn693Tyr) c.1693A>T (p.Asn565Tyr) | dbSNP |
| 1 | g.97305370T>C | CA341375232 | DPYD,DPYD-AS1 | c.2188A>G (p.Asn730Asp) n.129-819T>C c.1972A>G (p.Asn658Asp) c.2077A>G (p.Asn693Asp) c.1693A>G (p.Asn565Asp) | |
| 1 | g.97305370T>G | CA341375233 | DPYD,DPYD-AS1 | c.2188A>C (p.Asn730His) n.129-819T>G c.1972A>C (p.Asn658His) c.2077A>C (p.Asn693His) c.1693A>C (p.Asn565His) | |
| 1 | g.97305371G>A | CA419137491 | DPYD,DPYD-AS1 | c.2187C>T (p.Ala729=) n.129-818G>A c.1971C>T (p.Ala657=) c.2076C>T (p.Ala692=) c.1692C>T (p.Ala564=) | |
| 1 | g.97305371G>C | CA419137490 | DPYD,DPYD-AS1 | c.2187C>G (p.Ala729=) n.129-818G>C c.1971C>G (p.Ala657=) c.2076C>G (p.Ala692=) c.1692C>G (p.Ala564=) | dbSNP |
| 1 | g.97305371G>T | CA419137489 | DPYD,DPYD-AS1 | c.2187C>A (p.Ala729=) n.129-818G>T c.1971C>A (p.Ala657=) c.2076C>A (p.Ala692=) c.1692C>A (p.Ala564=) | |
| 1 | g.97305372G>A | CA963091 | DPYD,DPYD-AS1 | c.2186C>T (p.Ala729Val) n.129-817G>A c.1970C>T (p.Ala657Val) c.2075C>T (p.Ala692Val) c.1691C>T (p.Ala564Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97305372G>C | CA341375234 | DPYD,DPYD-AS1 | c.2186C>G (p.Ala729Gly) n.129-817G>C c.1970C>G (p.Ala657Gly) c.2075C>G (p.Ala692Gly) c.1691C>G (p.Ala564Gly) | |
| 1 | g.97305372G= | CA1142121920 | DPYD,DPYD-AS1 | c.2186C= (p.Ala729=) n.129-817G= c.1970C= (p.Ala657=) c.2075C= (p.Ala692=) c.1691C= (p.Ala564=) | |
| 1 | g.97305372G>T | CA341375235 | DPYD,DPYD-AS1 | c.2186C>A (p.Ala729Asp) n.129-817G>T c.1970C>A (p.Ala657Asp) c.2075C>A (p.Ala692Asp) c.1691C>A (p.Ala564Asp) | dbSNP |
| 1 | g.97305373C>A | CA341375236 | DPYD,DPYD-AS1 | c.2185G>T (p.Ala729Ser) n.129-816C>A c.1969G>T (p.Ala657Ser) c.2074G>T (p.Ala692Ser) c.1690G>T (p.Ala564Ser) | dbSNP |
| 1 | g.97305373C= | CA1182808477 | DPYD,DPYD-AS1 | c.2185G= (p.Ala729=) n.129-816C= c.1969G= (p.Ala657=) c.2074G= (p.Ala692=) c.1690G= (p.Ala564=) | |
| 1 | g.97305373C>G | CA341375237 | DPYD,DPYD-AS1 | c.2185G>C (p.Ala729Pro) n.129-816C>G c.1969G>C (p.Ala657Pro) c.2074G>C (p.Ala692Pro) c.1690G>C (p.Ala564Pro) | dbSNP |
| 1 | g.97305373C>T | CA27484633 | DPYD,DPYD-AS1 | c.2185G>A (p.Ala729Thr) n.129-816C>T c.1969G>A (p.Ala657Thr) c.2074G>A (p.Ala692Thr) c.1690G>A (p.Ala564Thr) | dbSNP gnomAD v4 COSMIC |
| 1 | g.97305374A>C | CA419137492 | DPYD,DPYD-AS1 | c.2184T>G (p.Gly728=) n.129-815A>C c.1968T>G (p.Gly656=) c.2073T>G (p.Gly691=) c.1689T>G (p.Gly563=) | |
| 1 | g.97305374A>G | CA419137493 | DPYD,DPYD-AS1 | c.2184T>C (p.Gly728=) n.129-815A>G c.1968T>C (p.Gly656=) c.2073T>C (p.Gly691=) c.1689T>C (p.Gly563=) | |
| 1 | g.97305374A>T | CA419137494 | DPYD,DPYD-AS1 | c.2184T>A (p.Gly728=) n.129-815A>T c.1968T>A (p.Gly656=) c.2073T>A (p.Gly691=) c.1689T>A (p.Gly563=) | dbSNP |
| 1 | g.97305374_97305375insGTT | CA2574442147 | DPYD,DPYD-AS1 | c.2183_2184insAAC (p.Gly728_Ala729insThr) n.129-815_129-814insGTT c.1967_1968insAAC (p.Gly656_Ala657insThr) c.2072_2073insAAC (p.Gly691_Ala692insThr) c.1688_1689insAAC (p.Gly563_Ala564insThr) | |
| 1 | g.97305375C>A | CA341375238 | DPYD,DPYD-AS1 | c.2183G>T (p.Gly728Val) n.129-814C>A c.1967G>T (p.Gly656Val) c.2072G>T (p.Gly691Val) c.1688G>T (p.Gly563Val) | ClinVar dbSNP |
| 1 | g.97305375C= | CA2740130090 | DPYD,DPYD-AS1 | c.2183G= (p.Gly728=) n.129-814C= c.1967G= (p.Gly656=) c.2072G= (p.Gly691=) c.1688G= (p.Gly563=) | |
| 1 | g.97305375C>G | CA341375240 | DPYD,DPYD-AS1 | c.2183G>C (p.Gly728Ala) n.129-814C>G c.1967G>C (p.Gly656Ala) c.2072G>C (p.Gly691Ala) c.1688G>C (p.Gly563Ala) | dbSNP |
| 1 | g.97305375C>T | CA341375239 | DPYD,DPYD-AS1 | c.2183G>A (p.Gly728Asp) n.129-814C>T c.1967G>A (p.Gly656Asp) c.2072G>A (p.Gly691Asp) c.1688G>A (p.Gly563Asp) | dbSNP |
| 1 | g.97305376del | CA2646704613 | DPYD,DPYD-AS1 | c.2183del (p.Gly728ValfsTer14) n.129-813del c.1967del (p.Gly656ValfsTer14) c.2072del (p.Gly691ValfsTer14) c.1688del (p.Gly563ValfsTer14) | gnomAD v4 |