UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.97305352_97305356dup | CA2574442146 | DPYD,DPYD-AS1 | c.2202_2206dup (p.Asn736ThrfsTer8) n.129-837_129-833dup c.1986_1990dup (p.Asn664ThrfsTer8) c.2091_2095dup (p.Asn699ThrfsTer8) c.1707_1711dup (p.Asn571ThrfsTer8) | |
| 1 | g.97305355T>A | CA341375201 | DPYD,DPYD-AS1 | c.2203A>T (p.Thr735Ser) n.129-834T>A c.1987A>T (p.Thr663Ser) c.2092A>T (p.Thr698Ser) c.1708A>T (p.Thr570Ser) | dbSNP |
| 1 | g.97305355T>C | CA341375202 | DPYD,DPYD-AS1 | c.2203A>G (p.Thr735Ala) n.129-834T>C c.1987A>G (p.Thr663Ala) c.2092A>G (p.Thr698Ala) c.1708A>G (p.Thr570Ala) | gnomAD v4 |
| 1 | g.97305355T>G | CA341375203 | DPYD,DPYD-AS1 | c.2203A>C (p.Thr735Pro) n.129-834T>G c.1987A>C (p.Thr663Pro) c.2092A>C (p.Thr698Pro) c.1708A>C (p.Thr570Pro) | dbSNP |
| 1 | g.97305356G>A | CA419137478 | DPYD,DPYD-AS1 | c.2202C>T (p.Ala734=) n.129-833G>A c.1986C>T (p.Ala662=) c.2091C>T (p.Ala697=) c.1707C>T (p.Ala569=) | dbSNP |
| 1 | g.97305356G>C | CA419137479 | DPYD,DPYD-AS1 | c.2202C>G (p.Ala734=) n.129-833G>C c.1986C>G (p.Ala662=) c.2091C>G (p.Ala697=) c.1707C>G (p.Ala569=) | dbSNP |
| 1 | g.97305356G= | CA1182808470 | DPYD,DPYD-AS1 | c.2202C= (p.Ala734=) n.129-833G= c.1986C= (p.Ala662=) c.2091C= (p.Ala697=) c.1707C= (p.Ala569=) | |
| 1 | g.97305356G>T | CA27484632 | DPYD,DPYD-AS1 | c.2202C>A (p.Ala734=) n.129-833G>T c.1986C>A (p.Ala662=) c.2091C>A (p.Ala697=) c.1707C>A (p.Ala569=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.97305357G>A | CA341375204 | DPYD,DPYD-AS1 | c.2201C>T (p.Ala734Val) n.129-832G>A c.1985C>T (p.Ala662Val) c.2090C>T (p.Ala697Val) c.1706C>T (p.Ala569Val) | dbSNP gnomAD v4 |
| 1 | g.97305357G>C | CA341375205 | DPYD,DPYD-AS1 | c.2201C>G (p.Ala734Gly) n.129-832G>C c.1985C>G (p.Ala662Gly) c.2090C>G (p.Ala697Gly) c.1706C>G (p.Ala569Gly) | dbSNP |
| 1 | g.97305357G>T | CA341375206 | DPYD,DPYD-AS1 | c.2201C>A (p.Ala734Asp) n.129-832G>T c.1985C>A (p.Ala662Asp) c.2090C>A (p.Ala697Asp) c.1706C>A (p.Ala569Asp) | |
| 1 | g.97305358C>A | CA341375207 | DPYD,DPYD-AS1 | c.2200G>T (p.Ala734Ser) n.129-831C>A c.1984G>T (p.Ala662Ser) c.2089G>T (p.Ala697Ser) c.1705G>T (p.Ala569Ser) | dbSNP |
| 1 | g.97305358C>G | CA341375208 | DPYD,DPYD-AS1 | c.2200G>C (p.Ala734Pro) n.129-831C>G c.1984G>C (p.Ala662Pro) c.2089G>C (p.Ala697Pro) c.1705G>C (p.Ala569Pro) | dbSNP |
| 1 | g.97305358C>T | CA341375209 | DPYD,DPYD-AS1 | c.2200G>A (p.Ala734Thr) n.129-831C>T c.1984G>A (p.Ala662Thr) c.2089G>A (p.Ala697Thr) c.1705G>A (p.Ala569Thr) | dbSNP |
| 1 | g.97305359T>A | CA419137480 | DPYD,DPYD-AS1 | c.2199A>T (p.Thr733=) n.129-830T>A c.1983A>T (p.Thr661=) c.2088A>T (p.Thr696=) c.1704A>T (p.Thr568=) | |
| 1 | g.97305359T>C | CA419137481 | DPYD,DPYD-AS1 | c.2199A>G (p.Thr733=) n.129-830T>C c.1983A>G (p.Thr661=) c.2088A>G (p.Thr696=) c.1704A>G (p.Thr568=) | dbSNP |
| 1 | g.97305359T>G | CA419137482 | DPYD,DPYD-AS1 | c.2199A>C (p.Thr733=) n.129-830T>G c.1983A>C (p.Thr661=) c.2088A>C (p.Thr696=) c.1704A>C (p.Thr568=) | |
| 1 | g.97305360G>A | CA341375210 | DPYD,DPYD-AS1 | c.2198C>T (p.Thr733Ile) n.129-829G>A c.1982C>T (p.Thr661Ile) c.2087C>T (p.Thr696Ile) c.1703C>T (p.Thr568Ile) | dbSNP |
| 1 | g.97305360G>C | CA341375211 | DPYD,DPYD-AS1 | c.2198C>G (p.Thr733Arg) n.129-829G>C c.1982C>G (p.Thr661Arg) c.2087C>G (p.Thr696Arg) c.1703C>G (p.Thr568Arg) | dbSNP |
| 1 | g.97305360G>T | CA341375212 | DPYD,DPYD-AS1 | c.2198C>A (p.Thr733Lys) n.129-829G>T c.1982C>A (p.Thr661Lys) c.2087C>A (p.Thr696Lys) c.1703C>A (p.Thr568Lys) | |
| 1 | g.97305361T>A | CA341375215 | DPYD,DPYD-AS1 | c.2197A>T (p.Thr733Ser) n.129-828T>A c.1981A>T (p.Thr661Ser) c.2086A>T (p.Thr696Ser) c.1702A>T (p.Thr568Ser) | dbSNP gnomAD v4 |
| 1 | g.97305361T>C | CA341375214 | DPYD,DPYD-AS1 | c.2197A>G (p.Thr733Ala) n.129-828T>C c.1981A>G (p.Thr661Ala) c.2086A>G (p.Thr696Ala) c.1702A>G (p.Thr568Ala) | |
| 1 | g.97305361T>G | CA341375213 | DPYD,DPYD-AS1 | c.2197A>C (p.Thr733Pro) n.129-828T>G c.1981A>C (p.Thr661Pro) c.2086A>C (p.Thr696Pro) c.1702A>C (p.Thr568Pro) | |
| 1 | g.97305361T= | CA1182808472 | DPYD,DPYD-AS1 | c.2197A= (p.Thr733=) n.129-828T= c.1981A= (p.Thr661=) c.2086A= (p.Thr696=) c.1702A= (p.Thr568=) | |
| 1 | g.97305361dup | CA2646704612 | DPYD,DPYD-AS1 | c.2197dup (p.Thr733AsnfsTer15) n.129-828dup c.1981dup (p.Thr661AsnfsTer15) c.2086dup (p.Thr696AsnfsTer15) c.1702dup (p.Thr568AsnfsTer15) | gnomAD v4 |
| 1 | g.97305361_97305362delinsTA | CA1182808471 | DPYD,DPYD-AS1 | c.2196_2197delinsTA (p.Val732=) n.129-828_129-827delinsTA c.1980_1981delinsTA (p.Val660=) c.2085_2086delinsTA (p.Val695=) c.1701_1702delinsTA (p.Val567=) | |
| 1 | g.97305362A>C | CA419137483 | DPYD,DPYD-AS1 | c.2196T>G (p.Val732=) n.129-827A>C c.1980T>G (p.Val660=) c.2085T>G (p.Val695=) c.1701T>G (p.Val567=) | dbSNP |
| 1 | g.97305362A>G | CA419137484 | DPYD,DPYD-AS1 | c.2196T>C (p.Val732=) n.129-827A>G c.1980T>C (p.Val660=) c.2085T>C (p.Val695=) c.1701T>C (p.Val567=) | dbSNP |
| 1 | g.97305362A>T | CA419137485 | DPYD,DPYD-AS1 | c.2196T>A (p.Val732=) n.129-827A>T c.1980T>A (p.Val660=) c.2085T>A (p.Val695=) c.1701T>A (p.Val567=) | dbSNP |
| 1 | g.97305362_97305363dup | CA524781020 | DPYD,DPYD-AS1 | c.2195_2196dup (p.Thr733LeufsTer10) n.129-827_129-826dup c.1979_1980dup (p.Thr661LeufsTer10) c.2084_2085dup (p.Thr696LeufsTer10) c.1700_1701dup (p.Thr568LeufsTer10) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97305363del | CA916241857 | DPYD,DPYD-AS1 | c.2196del (p.Thr733GlnfsTer9) n.129-826del c.1980del (p.Thr661GlnfsTer9) c.2085del (p.Thr696GlnfsTer9) c.1701del (p.Thr568GlnfsTer9) | dbSNP |
| 1 | g.97305363A= | CA1140705783 | DPYD,DPYD-AS1 | c.2195T= (p.Val732=) n.129-826A= c.1979T= (p.Val660=) c.2084T= (p.Val695=) c.1700T= (p.Val567=) | |
| 1 | g.97305363A>C | CA963089 | DPYD,DPYD-AS1 | c.2195T>G (p.Val732Gly) n.129-826A>C c.1979T>G (p.Val660Gly) c.2084T>G (p.Val695Gly) c.1700T>G (p.Val567Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97305363A>G | CA341375216 | DPYD,DPYD-AS1 | c.2195T>C (p.Val732Ala) n.129-826A>G c.1979T>C (p.Val660Ala) c.2084T>C (p.Val695Ala) c.1700T>C (p.Val567Ala) | |
| 1 | g.97305363A>T | CA341375217 | DPYD,DPYD-AS1 | c.2195T>A (p.Val732Asp) n.129-826A>T c.1979T>A (p.Val660Asp) c.2084T>A (p.Val695Asp) c.1700T>A (p.Val567Asp) | dbSNP |
| 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 |