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.97098575T>A | CA16040790 | DPYD,DPYD-AS1 | c.2680A>T (p.Lys894Ter) n.64+2589T>A c.2464A>T (p.Lys822Ter) c.2569A>T (p.Lys857Ter) c.2185A>T (p.Lys729Ter) | ClinVar dbSNP |
| 1 | g.97098575T>C | CA341374873 | DPYD,DPYD-AS1 | c.2680A>G (p.Lys894Glu) n.64+2589T>C c.2464A>G (p.Lys822Glu) c.2569A>G (p.Lys857Glu) c.2185A>G (p.Lys729Glu) | dbSNP gnomAD v2 |
| 1 | g.97098575T>G | CA341374874 | DPYD,DPYD-AS1 | c.2680A>C (p.Lys894Gln) n.64+2589T>G c.2464A>C (p.Lys822Gln) c.2569A>C (p.Lys857Gln) c.2185A>C (p.Lys729Gln) | |
| 1 | g.97098575T= | CA1182717208 | DPYD,DPYD-AS1 | c.2680A= (p.Lys894=) n.64+2589T= c.2464A= (p.Lys822=) c.2569A= (p.Lys857=) c.2185A= (p.Lys729=) | |
| 1 | g.97098576G>A | CA419137002 | DPYD,DPYD-AS1 | c.2679C>T (p.Asn893=) n.64+2590G>A c.2463C>T (p.Asn821=) c.2568C>T (p.Asn856=) c.2184C>T (p.Asn728=) | |
| 1 | g.97098576G>C | CA341374875 | DPYD,DPYD-AS1 | c.2679C>G (p.Asn893Lys) n.64+2590G>C c.2463C>G (p.Asn821Lys) c.2568C>G (p.Asn856Lys) c.2184C>G (p.Asn728Lys) | |
| 1 | g.97098576G>T | CA341374876 | DPYD,DPYD-AS1 | c.2679C>A (p.Asn893Lys) n.64+2590G>T c.2463C>A (p.Asn821Lys) c.2568C>A (p.Asn856Lys) c.2184C>A (p.Asn728Lys) | |
| 1 | g.97098577T>A | CA341374877 | DPYD,DPYD-AS1 | c.2678A>T (p.Asn893Ile) n.64+2591T>A c.2462A>T (p.Asn821Ile) c.2567A>T (p.Asn856Ile) c.2183A>T (p.Asn728Ile) | |
| 1 | g.97098577T>C | CA962962 | DPYD,DPYD-AS1 | c.2678A>G (p.Asn893Ser) n.64+2591T>C c.2462A>G (p.Asn821Ser) c.2567A>G (p.Asn856Ser) c.2183A>G (p.Asn728Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.97098577T>G | CA341374878 | DPYD,DPYD-AS1 | c.2678A>C (p.Asn893Thr) n.64+2591T>G c.2462A>C (p.Asn821Thr) c.2567A>C (p.Asn856Thr) c.2183A>C (p.Asn728Thr) | |
| 1 | g.97098577T= | CA1142966598 | DPYD,DPYD-AS1 | c.2678A= (p.Asn893=) n.64+2591T= c.2462A= (p.Asn821=) c.2567A= (p.Asn856=) c.2183A= (p.Asn728=) | |
| 1 | g.97098578T>A | CA341374879 | DPYD,DPYD-AS1 | c.2677A>T (p.Asn893Tyr) n.64+2592T>A c.2461A>T (p.Asn821Tyr) c.2566A>T (p.Asn856Tyr) c.2182A>T (p.Asn728Tyr) | |
| 1 | g.97098578T>C | CA341374880 | DPYD,DPYD-AS1 | c.2677A>G (p.Asn893Asp) n.64+2592T>C c.2461A>G (p.Asn821Asp) c.2566A>G (p.Asn856Asp) c.2182A>G (p.Asn728Asp) | |
| 1 | g.97098578T>G | CA341374881 | DPYD,DPYD-AS1 | c.2677A>C (p.Asn893His) n.64+2592T>G c.2461A>C (p.Asn821His) c.2566A>C (p.Asn856His) c.2182A>C (p.Asn728His) | |
| 1 | g.97098579T>A | CA341374882 | DPYD,DPYD-AS1 | c.2676A>T (p.Glu892Asp) n.64+2593T>A c.2460A>T (p.Glu820Asp) c.2565A>T (p.Glu855Asp) c.2181A>T (p.Glu727Asp) | |
| 1 | g.97098579T>C | CA419137003 | DPYD,DPYD-AS1 | c.2676A>G (p.Glu892=) n.64+2593T>C c.2460A>G (p.Glu820=) c.2565A>G (p.Glu855=) c.2181A>G (p.Glu727=) | |
| 1 | g.97098579T>G | CA341374883 | DPYD,DPYD-AS1 | c.2676A>C (p.Glu892Asp) n.64+2593T>G c.2460A>C (p.Glu820Asp) c.2565A>C (p.Glu855Asp) c.2181A>C (p.Glu727Asp) | |
| 1 | g.97098580T>A | CA341374884 | DPYD,DPYD-AS1 | c.2675A>T (p.Glu892Val) n.64+2594T>A c.2459A>T (p.Glu820Val) c.2564A>T (p.Glu855Val) c.2180A>T (p.Glu727Val) | |
| 1 | g.97098580T>C | CA341374885 | DPYD,DPYD-AS1 | c.2675A>G (p.Glu892Gly) n.64+2594T>C c.2459A>G (p.Glu820Gly) c.2564A>G (p.Glu855Gly) c.2180A>G (p.Glu727Gly) | |
| 1 | g.97098580T>G | CA341374886 | DPYD,DPYD-AS1 | c.2675A>C (p.Glu892Ala) n.64+2594T>G c.2459A>C (p.Glu820Ala) c.2564A>C (p.Glu855Ala) c.2180A>C (p.Glu727Ala) | |
| 1 | g.97098581C>A | CA341374887 | DPYD,DPYD-AS1 | c.2674G>T (p.Glu892Ter) n.64+2595C>A c.2458G>T (p.Glu820Ter) c.2563G>T (p.Glu855Ter) c.2179G>T (p.Glu727Ter) | ClinVar |
| 1 | g.97098581C>G | CA341374888 | DPYD,DPYD-AS1 | c.2674G>C (p.Glu892Gln) n.64+2595C>G c.2458G>C (p.Glu820Gln) c.2563G>C (p.Glu855Gln) c.2179G>C (p.Glu727Gln) | |
| 1 | g.97098581C>T | CA341374889 | DPYD,DPYD-AS1 | c.2674G>A (p.Glu892Lys) n.64+2595C>T c.2458G>A (p.Glu820Lys) c.2563G>A (p.Glu855Lys) c.2179G>A (p.Glu727Lys) | |
| 1 | g.97098582T>A | CA419137004 | DPYD,DPYD-AS1 | c.2673A>T (p.Ala891=) n.64+2596T>A c.2457A>T (p.Ala819=) c.2562A>T (p.Ala854=) c.2178A>T (p.Ala726=) | |
| 1 | g.97098582T>C | CA962963 | DPYD,DPYD-AS1 | c.2673A>G (p.Ala891=) n.64+2596T>C c.2457A>G (p.Ala819=) c.2562A>G (p.Ala854=) c.2178A>G (p.Ala726=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97098582T>G | CA419137005 | DPYD,DPYD-AS1 | c.2673A>C (p.Ala891=) n.64+2596T>G c.2457A>C (p.Ala819=) c.2562A>C (p.Ala854=) c.2178A>C (p.Ala726=) | |
| 1 | g.97098582T= | CA1144123025 | DPYD,DPYD-AS1 | c.2673A= (p.Ala891=) n.64+2596T= c.2457A= (p.Ala819=) c.2562A= (p.Ala854=) c.2178A= (p.Ala726=) | |
| 1 | g.97098583G>A | CA341374890 | DPYD,DPYD-AS1 | c.2672C>T (p.Ala891Val) n.64+2597G>A c.2456C>T (p.Ala819Val) c.2561C>T (p.Ala854Val) c.2177C>T (p.Ala726Val) | |
| 1 | g.97098583G>C | CA341374891 | DPYD,DPYD-AS1 | c.2672C>G (p.Ala891Gly) n.64+2597G>C c.2456C>G (p.Ala819Gly) c.2561C>G (p.Ala854Gly) c.2177C>G (p.Ala726Gly) | |
| 1 | g.97098583G>T | CA341374892 | DPYD,DPYD-AS1 | c.2672C>A (p.Ala891Glu) n.64+2597G>T c.2456C>A (p.Ala819Glu) c.2561C>A (p.Ala854Glu) c.2177C>A (p.Ala726Glu) | |
| 1 | g.97098584C>A | CA341374893 | DPYD,DPYD-AS1 | c.2671G>T (p.Ala891Ser) n.64+2598C>A c.2455G>T (p.Ala819Ser) c.2560G>T (p.Ala854Ser) c.2176G>T (p.Ala726Ser) | gnomAD v4 |
| 1 | g.97098584C>G | CA341374894 | DPYD,DPYD-AS1 | c.2671G>C (p.Ala891Pro) n.64+2598C>G c.2455G>C (p.Ala819Pro) c.2560G>C (p.Ala854Pro) c.2176G>C (p.Ala726Pro) | |
| 1 | g.97098584C>T | CA341374895 | DPYD,DPYD-AS1 | c.2671G>A (p.Ala891Thr) n.64+2598C>T c.2455G>A (p.Ala819Thr) c.2560G>A (p.Ala854Thr) c.2176G>A (p.Ala726Thr) | gnomAD v4 |
| 1 | g.97098585T>A | CA419137007 | DPYD,DPYD-AS1 | c.2670A>T (p.Ile890=) n.64+2599T>A c.2454A>T (p.Ile818=) c.2559A>T (p.Ile853=) c.2175A>T (p.Ile725=) | |
| 1 | g.97098585T>C | CA341374896 | DPYD,DPYD-AS1 | c.2670A>G (p.Ile890Met) n.64+2599T>C c.2454A>G (p.Ile818Met) c.2559A>G (p.Ile853Met) c.2175A>G (p.Ile725Met) | |
| 1 | g.97098585T>G | CA419137006 | DPYD,DPYD-AS1 | c.2670A>C (p.Ile890=) n.64+2599T>G c.2454A>C (p.Ile818=) c.2559A>C (p.Ile853=) c.2175A>C (p.Ile725=) | |
| 1 | g.97098586A>C | CA341374897 | DPYD,DPYD-AS1 | c.2669T>G (p.Ile890Arg) n.64+2600A>C c.2453T>G (p.Ile818Arg) c.2558T>G (p.Ile853Arg) c.2174T>G (p.Ile725Arg) | |
| 1 | g.97098586A>G | CA341374898 | DPYD,DPYD-AS1 | c.2669T>C (p.Ile890Thr) n.64+2600A>G c.2453T>C (p.Ile818Thr) c.2558T>C (p.Ile853Thr) c.2174T>C (p.Ile725Thr) | gnomAD v4 |
| 1 | g.97098586A>T | CA341374899 | DPYD,DPYD-AS1 | c.2669T>A (p.Ile890Lys) n.64+2600A>T c.2453T>A (p.Ile818Lys) c.2558T>A (p.Ile853Lys) c.2174T>A (p.Ile725Lys) | |
| 1 | g.97098587T>A | CA341374900 | DPYD,DPYD-AS1 | c.2668A>T (p.Ile890Leu) n.64+2601T>A c.2452A>T (p.Ile818Leu) c.2557A>T (p.Ile853Leu) c.2173A>T (p.Ile725Leu) | |
| 1 | g.97098587T>C | CA962964 | DPYD,DPYD-AS1 | c.2668A>G (p.Ile890Val) n.64+2601T>C c.2452A>G (p.Ile818Val) c.2557A>G (p.Ile853Val) c.2173A>G (p.Ile725Val) | dbSNP ExAC gnomAD v4 |
| 1 | g.97098587T>G | CA341374901 | DPYD,DPYD-AS1 | c.2668A>C (p.Ile890Leu) n.64+2601T>G c.2452A>C (p.Ile818Leu) c.2557A>C (p.Ile853Leu) c.2173A>C (p.Ile725Leu) | |
| 1 | g.97098587T= | CA1182717209 | DPYD,DPYD-AS1 | c.2668A= (p.Ile890=) n.64+2601T= c.2452A= (p.Ile818=) c.2557A= (p.Ile853=) c.2173A= (p.Ile725=) | |
| 1 | g.97098588G>A | CA419137008 | DPYD,DPYD-AS1 | c.2667C>T (p.Ile889=) n.64+2602G>A c.2451C>T (p.Ile817=) c.2556C>T (p.Ile852=) c.2172C>T (p.Ile724=) | COSMIC |
| 1 | g.97098588G>C | CA341374902 | DPYD,DPYD-AS1 | c.2667C>G (p.Ile889Met) n.64+2602G>C c.2451C>G (p.Ile817Met) c.2556C>G (p.Ile852Met) c.2172C>G (p.Ile724Met) | |
| 1 | g.97098588G>T | CA419137009 | DPYD,DPYD-AS1 | c.2667C>A (p.Ile889=) n.64+2602G>T c.2451C>A (p.Ile817=) c.2556C>A (p.Ile852=) c.2172C>A (p.Ile724=) | gnomAD v4 COSMIC |
| 1 | g.97098589A>C | CA341374903 | DPYD,DPYD-AS1 | c.2666T>G (p.Ile889Ser) n.64+2603A>C c.2450T>G (p.Ile817Ser) c.2555T>G (p.Ile852Ser) c.2171T>G (p.Ile724Ser) | |
| 1 | g.97098589A>G | CA341374904 | DPYD,DPYD-AS1 | c.2666T>C (p.Ile889Thr) n.64+2603A>G c.2450T>C (p.Ile817Thr) c.2555T>C (p.Ile852Thr) c.2171T>C (p.Ile724Thr) | |
| 1 | g.97098589A>T | CA341374905 | DPYD,DPYD-AS1 | c.2666T>A (p.Ile889Asn) n.64+2603A>T c.2450T>A (p.Ile817Asn) c.2555T>A (p.Ile852Asn) c.2171T>A (p.Ile724Asn) | |
| 1 | g.97098590T>A | CA341374906 | DPYD,DPYD-AS1 | c.2665A>T (p.Ile889Phe) n.64+2604T>A c.2449A>T (p.Ile817Phe) c.2554A>T (p.Ile852Phe) c.2170A>T (p.Ile724Phe) |