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.97549613C>A | CA341377550 | DPYD | c.1471G>T (p.Glu491Ter) c.1360G>T (p.Glu454Ter) c.976G>T (p.Glu326Ter) | |
| 1 | g.97549613C>G | CA341377551 | DPYD | c.1471G>C (p.Glu491Gln) c.1360G>C (p.Glu454Gln) c.976G>C (p.Glu326Gln) | |
| 1 | g.97549613C>T | CA341377553 | DPYD | c.1471G>A (p.Glu491Lys) c.1360G>A (p.Glu454Lys) c.976G>A (p.Glu326Lys) | gnomAD v4 |
| 1 | g.97549614C>A | CA419145258 | DPYD | c.1470G>T (p.Val490=) c.1359G>T (p.Val453=) c.975G>T (p.Val325=) | |
| 1 | g.97549614C= | CA1182917407 | DPYD | c.1470G= (p.Val490=) c.1359G= (p.Val453=) c.975G= (p.Val325=) | |
| 1 | g.97549614C>G | CA419145260 | DPYD | c.1470G>C (p.Val490=) c.1359G>C (p.Val453=) c.975G>C (p.Val325=) | |
| 1 | g.97549614C>T | CA419145261 | DPYD | c.1470G>A (p.Val490=) c.1359G>A (p.Val453=) c.975G>A (p.Val325=) | dbSNP |
| 1 | g.97549615A= | CA1182917408 | DPYD | c.1469T= (p.Val490=) c.1358T= (p.Val453=) c.974T= (p.Val325=) | |
| 1 | g.97549615A>C | CA341377562 | DPYD | c.1469T>G (p.Val490Gly) c.1358T>G (p.Val453Gly) c.974T>G (p.Val325Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.97549615A>G | CA341377560 | DPYD | c.1469T>C (p.Val490Ala) c.1358T>C (p.Val453Ala) c.974T>C (p.Val325Ala) | |
| 1 | g.97549615A>T | CA341377558 | DPYD | c.1469T>A (p.Val490Glu) c.1358T>A (p.Val453Glu) c.974T>A (p.Val325Glu) | |
| 1 | g.97549616C>A | CA341377563 | DPYD | c.1468G>T (p.Val490Leu) c.1357G>T (p.Val453Leu) c.973G>T (p.Val325Leu) | |
| 1 | g.97549616C>G | CA341377565 | DPYD | c.1468G>C (p.Val490Leu) c.1357G>C (p.Val453Leu) c.973G>C (p.Val325Leu) | |
| 1 | g.97549616C>T | CA341377567 | DPYD | c.1468G>A (p.Val490Met) c.1357G>A (p.Val453Met) c.973G>A (p.Val325Met) | |
| 1 | g.97549617T>A | CA419145263 | DPYD | c.1467A>T (p.Thr489=) c.1356A>T (p.Thr452=) c.972A>T (p.Thr324=) | |
| 1 | g.97549617T>C | CA419145264 | DPYD | c.1467A>G (p.Thr489=) c.1356A>G (p.Thr452=) c.972A>G (p.Thr324=) | |
| 1 | g.97549617T>G | CA419145262 | DPYD | c.1467A>C (p.Thr489=) c.1356A>C (p.Thr452=) c.972A>C (p.Thr324=) | |
| 1 | g.97549618G>A | CA341377569 | DPYD | c.1466C>T (p.Thr489Ile) c.1355C>T (p.Thr452Ile) c.971C>T (p.Thr324Ile) | |
| 1 | g.97549618G>C | CA341377571 | DPYD | c.1466C>G (p.Thr489Arg) c.1355C>G (p.Thr452Arg) c.971C>G (p.Thr324Arg) | |
| 1 | g.97549618G>T | CA341377574 | DPYD | c.1466C>A (p.Thr489Lys) c.1355C>A (p.Thr452Lys) c.971C>A (p.Thr324Lys) | |
| 1 | g.97549619T>A | CA341377576 | DPYD | c.1465A>T (p.Thr489Ser) c.1354A>T (p.Thr452Ser) c.970A>T (p.Thr324Ser) | |
| 1 | g.97549619T>C | CA963341 | DPYD | c.1465A>G (p.Thr489Ala) c.1354A>G (p.Thr452Ala) c.970A>G (p.Thr324Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.97549619T>G | CA341377579 | DPYD | c.1465A>C (p.Thr489Pro) c.1354A>C (p.Thr452Pro) c.970A>C (p.Thr324Pro) | |
| 1 | g.97549619T= | CA1182917409 | DPYD | c.1465A= (p.Thr489=) c.1354A= (p.Thr452=) c.970A= (p.Thr324=) | |
| 1 | g.97549620A= | CA1182917410 | DPYD | c.1464T= (p.Thr488=) c.1353T= (p.Thr451=) c.969T= (p.Thr323=) | |
| 1 | g.97549620A>C | CA419145266 | DPYD | c.1464T>G (p.Thr488=) c.1353T>G (p.Thr451=) c.969T>G (p.Thr323=) | |
| 1 | g.97549620A>G | CA419145268 | DPYD | c.1464T>C (p.Thr488=) c.1353T>C (p.Thr451=) c.969T>C (p.Thr323=) | |
| 1 | g.97549620A>T | CA419145270 | DPYD | c.1464T>A (p.Thr488=) c.1353T>A (p.Thr451=) c.969T>A (p.Thr323=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.97549621del | CA2646706232 | DPYD | c.1463del (p.Thr488IlefsTer6) c.1352del (p.Thr451IlefsTer6) c.968del (p.Thr323IlefsTer6) | gnomAD v4 |
| 1 | g.97549621G>A | CA341377581 | DPYD | c.1463C>T (p.Thr488Ile) c.1352C>T (p.Thr451Ile) c.968C>T (p.Thr323Ile) | dbSNP |
| 1 | g.97549621G>C | CA341377583 | DPYD | c.1463C>G (p.Thr488Ser) c.1352C>G (p.Thr451Ser) c.968C>G (p.Thr323Ser) | |
| 1 | g.97549621G= | CA1182917411 | DPYD | c.1463C= (p.Thr488=) c.1352C= (p.Thr451=) c.968C= (p.Thr323=) | |
| 1 | g.97549621G>T | CA341377585 | DPYD | c.1463C>A (p.Thr488Asn) c.1352C>A (p.Thr451Asn) c.968C>A (p.Thr323Asn) | |
| 1 | g.97549622T>A | CA341377590 | DPYD | c.1462A>T (p.Thr488Ser) c.1351A>T (p.Thr451Ser) c.967A>T (p.Thr323Ser) | |
| 1 | g.97549622T>C | CA341377591 | DPYD | c.1462A>G (p.Thr488Ala) c.1351A>G (p.Thr451Ala) c.967A>G (p.Thr323Ala) | dbSNP |
| 1 | g.97549622T>G | CA341377588 | DPYD | c.1462A>C (p.Thr488Pro) c.1351A>C (p.Thr451Pro) c.967A>C (p.Thr323Pro) | |
| 1 | g.97549622T= | CA1182917412 | DPYD | c.1462A= (p.Thr488=) c.1351A= (p.Thr451=) c.967A= (p.Thr323=) | |
| 1 | g.97549623G>A | CA27517981 | DPYD | c.1461C>T (p.Asn487=) c.1350C>T (p.Asn450=) c.966C>T (p.Asn322=) | dbSNP |
| 1 | g.97549623G>C | CA341377594 | DPYD | c.1461C>G (p.Asn487Lys) c.1350C>G (p.Asn450Lys) c.966C>G (p.Asn322Lys) | |
| 1 | g.97549623G= | CA1182917413 | DPYD | c.1461C= (p.Asn487=) c.1350C= (p.Asn450=) c.966C= (p.Asn322=) | |
| 1 | g.97549623G>T | CA341377596 | DPYD | c.1461C>A (p.Asn487Lys) c.1350C>A (p.Asn450Lys) c.966C>A (p.Asn322Lys) | |
| 1 | g.97549624T>A | CA341377598 | DPYD | c.1460A>T (p.Asn487Ile) c.1349A>T (p.Asn450Ile) c.965A>T (p.Asn322Ile) | |
| 1 | g.97549624T>C | CA341377600 | DPYD | c.1460A>G (p.Asn487Ser) c.1349A>G (p.Asn450Ser) c.965A>G (p.Asn322Ser) | |
| 1 | g.97549624T>G | CA341377602 | DPYD | c.1460A>C (p.Asn487Thr) c.1349A>C (p.Asn450Thr) c.965A>C (p.Asn322Thr) | |
| 1 | g.97549625T>A | CA341377606 | DPYD | c.1459A>T (p.Asn487Tyr) c.1348A>T (p.Asn450Tyr) c.964A>T (p.Asn322Tyr) | |
| 1 | g.97549625T>C | CA27517982 | DPYD | c.1459A>G (p.Asn487Asp) c.1348A>G (p.Asn450Asp) c.964A>G (p.Asn322Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97549625T>G | CA341377603 | DPYD | c.1459A>C (p.Asn487His) c.1348A>C (p.Asn450His) c.964A>C (p.Asn322His) | |
| 1 | g.97549625T= | CA1182917414 | DPYD | c.1459A= (p.Asn487=) c.1348A= (p.Asn450=) c.964A= (p.Asn322=) | |
| 1 | g.97549626A>C | CA419145272 | DPYD | c.1458T>G (p.Ala486=) c.1347T>G (p.Ala449=) c.963T>G (p.Ala321=) | |
| 1 | g.97549626A>G | CA419145273 | DPYD | c.1458T>C (p.Ala486=) c.1347T>C (p.Ala449=) c.963T>C (p.Ala321=) |