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 |
|---|---|---|---|---|---|
| 2 | g.233672613G>A | CA351080425 | UGT1A10,UGT1A8,UGT1A9 | c.855+35236G>A (n.855+35236G>A) c.855+54051G>A (n.855+54051G>A) c.679G>A (p.Ala227Thr) | |
| 2 | g.233672613G>C | CA351080427 | UGT1A10,UGT1A8,UGT1A9 | c.855+35236G>C (n.855+35236G>C) c.855+54051G>C (n.855+54051G>C) c.679G>C (p.Ala227Pro) | |
| 2 | g.233672613G>T | CA351080431 | UGT1A10,UGT1A8,UGT1A9 | c.855+35236G>T (n.855+35236G>T) c.855+54051G>T (n.855+54051G>T) c.679G>T (p.Ala227Ser) | |
| 2 | g.233672613_233672614delinsGC | CA1335852578 | UGT1A10,UGT1A8,UGT1A9 | c.855+35236_855+35237delinsGC (n.855+35236_855+35237delinsGC) c.855+54051_855+54052delinsGC (n.855+54051_855+54052delinsGC) c.679_680delinsGC (p.Ala227=) | |
| 2 | g.233672614C>A | CA351080433 | UGT1A10,UGT1A8,UGT1A9 | c.855+35237C>A (n.855+35237C>A) c.855+54052C>A (n.855+54052C>A) c.680C>A (p.Ala227Asp) | |
| 2 | g.233672614C= | CA1335852582 | UGT1A10,UGT1A8,UGT1A9 | c.855+35237C= (n.855+35237C=) c.855+54052C= (n.855+54052C=) c.680C= (p.Ala227=) | |
| 2 | g.233672614C>G | CA351080435 | UGT1A10,UGT1A8,UGT1A9 | c.855+35237C>G (n.855+35237C>G) c.855+54052C>G (n.855+54052C>G) c.680C>G (p.Ala227Gly) | |
| 2 | g.233672614C>T | CA351080438 | UGT1A10,UGT1A8,UGT1A9 | c.855+35237C>T (n.855+35237C>T) c.855+54052C>T (n.855+54052C>T) c.680C>T (p.Ala227Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.233672616del | CA540311292 | UGT1A10,UGT1A8,UGT1A9 | c.855+35239del (n.855+35239del) c.855+54054del (n.855+54054del) c.682del (p.Leu228Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233672615C>A | CA431856452 | UGT1A10,UGT1A8,UGT1A9 | c.855+35238C>A (n.855+35238C>A) c.855+54053C>A (n.855+54053C>A) c.681C>A (p.Ala227=) | gnomAD v4 COSMIC |
| 2 | g.233672615C= | CA1335852589 | UGT1A10,UGT1A8,UGT1A9 | c.855+35238C= (n.855+35238C=) c.855+54053C= (n.855+54053C=) c.681C= (p.Ala227=) | |
| 2 | g.233672615C>G | CA431856455 | UGT1A10,UGT1A8,UGT1A9 | c.855+35238C>G (n.855+35238C>G) c.855+54053C>G (n.855+54053C>G) c.681C>G (p.Ala227=) | |
| 2 | g.233672615C>T | CA2178101 | UGT1A10,UGT1A8,UGT1A9 | c.855+35238C>T (n.855+35238C>T) c.855+54053C>T (n.855+54053C>T) c.681C>T (p.Ala227=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.233672616C>A | CA351080445 | UGT1A10,UGT1A8,UGT1A9 | c.855+35239C>A (n.855+35239C>A) c.855+54054C>A (n.855+54054C>A) c.682C>A (p.Leu228Ile) | |
| 2 | g.233672616C= | CA1335852595 | UGT1A10,UGT1A8,UGT1A9 | c.855+35239C= (n.855+35239C=) c.855+54054C= (n.855+54054C=) c.682C= (p.Leu228=) | |
| 2 | g.233672616C>G | CA351080448 | UGT1A10,UGT1A8,UGT1A9 | c.855+35239C>G (n.855+35239C>G) c.855+54054C>G (n.855+54054C>G) c.682C>G (p.Leu228Val) | dbSNP |
| 2 | g.233672616C>T | CA431856457 | UGT1A10,UGT1A8,UGT1A9 | c.855+35239C>T (n.855+35239C>T) c.855+54054C>T (n.855+54054C>T) c.682C>T (p.Leu228=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233672617T>A | CA351080456 | UGT1A10,UGT1A8,UGT1A9 | c.855+35240T>A (n.855+35240T>A) c.855+54055T>A (n.855+54055T>A) c.683T>A (p.Leu228Gln) | |
| 2 | g.233672617T>C | CA351080451 | UGT1A10,UGT1A8,UGT1A9 | c.855+35240T>C (n.855+35240T>C) c.855+54055T>C (n.855+54055T>C) c.683T>C (p.Leu228Pro) | |
| 2 | g.233672617T>G | CA351080453 | UGT1A10,UGT1A8,UGT1A9 | c.855+35240T>G (n.855+35240T>G) c.855+54055T>G (n.855+54055T>G) c.683T>G (p.Leu228Arg) | |
| 2 | g.233672618A= | CA1335852598 | UGT1A10,UGT1A8,UGT1A9 | c.855+35241A= (n.855+35241A=) c.855+54056A= (n.855+54056A=) c.684A= (p.Leu228=) | |
| 2 | g.233672618A>C | CA431856461 | UGT1A10,UGT1A8,UGT1A9 | c.855+35241A>C (n.855+35241A>C) c.855+54056A>C (n.855+54056A>C) c.684A>C (p.Leu228=) | |
| 2 | g.233672618A>G | CA2178102 | UGT1A10,UGT1A8,UGT1A9 | c.855+35241A>G (n.855+35241A>G) c.855+54056A>G (n.855+54056A>G) c.684A>G (p.Leu228=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233672618A>T | CA431856462 | UGT1A10,UGT1A8,UGT1A9 | c.855+35241A>T (n.855+35241A>T) c.855+54056A>T (n.855+54056A>T) c.684A>T (p.Leu228=) | |
| 2 | g.233672619G>A | CA351080459 | UGT1A10,UGT1A8,UGT1A9 | c.855+35242G>A (n.855+35242G>A) c.855+54057G>A (n.855+54057G>A) c.685G>A (p.Glu229Lys) | |
| 2 | g.233672619G>C | CA351080461 | UGT1A10,UGT1A8,UGT1A9 | c.855+35242G>C (n.855+35242G>C) c.855+54057G>C (n.855+54057G>C) c.685G>C (p.Glu229Gln) | |
| 2 | g.233672619G>T | CA351080462 | UGT1A10,UGT1A8,UGT1A9 | c.855+35242G>T (n.855+35242G>T) c.855+54057G>T (n.855+54057G>T) c.685G>T (p.Glu229Ter) | |
| 2 | g.233672620A>C | CA351080464 | UGT1A10,UGT1A8,UGT1A9 | c.855+35243A>C (n.855+35243A>C) c.855+54058A>C (n.855+54058A>C) c.686A>C (p.Glu229Ala) | |
| 2 | g.233672620A>G | CA351080466 | UGT1A10,UGT1A8,UGT1A9 | c.855+35243A>G (n.855+35243A>G) c.855+54058A>G (n.855+54058A>G) c.686A>G (p.Glu229Gly) | gnomAD v4 |
| 2 | g.233672620A>T | CA351080467 | UGT1A10,UGT1A8,UGT1A9 | c.855+35243A>T (n.855+35243A>T) c.855+54058A>T (n.855+54058A>T) c.686A>T (p.Glu229Val) | |
| 2 | g.233672621A= | CA1335852601 | UGT1A10,UGT1A8,UGT1A9 | c.855+35244A= (n.855+35244A=) c.855+54059A= (n.855+54059A=) c.687A= (p.Glu229=) | |
| 2 | g.233672621A>C | CA351080470 | UGT1A10,UGT1A8,UGT1A9 | c.855+35244A>C (n.855+35244A>C) c.855+54059A>C (n.855+54059A>C) c.687A>C (p.Glu229Asp) | gnomAD v4 |
| 2 | g.233672621A>G | CA67608656 | UGT1A10,UGT1A8,UGT1A9 | c.855+35244A>G (n.855+35244A>G) c.855+54059A>G (n.855+54059A>G) c.687A>G (p.Glu229=) | dbSNP gnomAD v4 |
| 2 | g.233672621A>T | CA351080476 | UGT1A10,UGT1A8,UGT1A9 | c.855+35244A>T (n.855+35244A>T) c.855+54059A>T (n.855+54059A>T) c.687A>T (p.Glu229Asp) | |
| 2 | g.233672622A>C | CA351080482 | UGT1A10,UGT1A8,UGT1A9 | c.855+35245A>C (n.855+35245A>C) c.855+54060A>C (n.855+54060A>C) c.688A>C (p.Ile230Leu) | |
| 2 | g.233672622A>G | CA351080484 | UGT1A10,UGT1A8,UGT1A9 | c.855+35245A>G (n.855+35245A>G) c.855+54060A>G (n.855+54060A>G) c.688A>G (p.Ile230Val) | |
| 2 | g.233672622A>T | CA351080480 | UGT1A10,UGT1A8,UGT1A9 | c.855+35245A>T (n.855+35245A>T) c.855+54060A>T (n.855+54060A>T) c.688A>T (p.Ile230Leu) | |
| 2 | g.233672623T>A | CA351080485 | UGT1A10,UGT1A8,UGT1A9 | c.855+35246T>A (n.855+35246T>A) c.855+54061T>A (n.855+54061T>A) c.689T>A (p.Ile230Lys) | |
| 2 | g.233672623T>C | CA351080487 | UGT1A10,UGT1A8,UGT1A9 | c.855+35246T>C (n.855+35246T>C) c.855+54061T>C (n.855+54061T>C) c.689T>C (p.Ile230Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233672623T>G | CA351080490 | UGT1A10,UGT1A8,UGT1A9 | c.855+35246T>G (n.855+35246T>G) c.855+54061T>G (n.855+54061T>G) c.689T>G (p.Ile230Arg) | |
| 2 | g.233672623T= | CA1335852606 | UGT1A10,UGT1A8,UGT1A9 | c.855+35246T= (n.855+35246T=) c.855+54061T= (n.855+54061T=) c.689T= (p.Ile230=) | |
| 2 | g.233672624A>C | CA431856474 | UGT1A10,UGT1A8,UGT1A9 | c.855+35247A>C (n.855+35247A>C) c.855+54062A>C (n.855+54062A>C) c.690A>C (p.Ile230=) | |
| 2 | g.233672624A>G | CA351080495 | UGT1A10,UGT1A8,UGT1A9 | c.855+35247A>G (n.855+35247A>G) c.855+54062A>G (n.855+54062A>G) c.690A>G (p.Ile230Met) | |
| 2 | g.233672624A>T | CA431856476 | UGT1A10,UGT1A8,UGT1A9 | c.855+35247A>T (n.855+35247A>T) c.855+54062A>T (n.855+54062A>T) c.690A>T (p.Ile230=) | |
| 2 | g.233672625G>A | CA351080500 | UGT1A10,UGT1A8,UGT1A9 | c.855+35248G>A (n.855+35248G>A) c.855+54063G>A (n.855+54063G>A) c.691G>A (p.Ala231Thr) | |
| 2 | g.233672625G>C | CA351080499 | UGT1A10,UGT1A8,UGT1A9 | c.855+35248G>C (n.855+35248G>C) c.855+54063G>C (n.855+54063G>C) c.691G>C (p.Ala231Pro) | |
| 2 | g.233672625G>T | CA351080497 | UGT1A10,UGT1A8,UGT1A9 | c.855+35248G>T (n.855+35248G>T) c.855+54063G>T (n.855+54063G>T) c.691G>T (p.Ala231Ser) | |
| 2 | g.233672626C>A | CA351080503 | UGT1A10,UGT1A8,UGT1A9 | c.855+35249C>A (n.855+35249C>A) c.855+54064C>A (n.855+54064C>A) c.692C>A (p.Ala231Asp) | |
| 2 | g.233672626C>G | CA351080505 | UGT1A10,UGT1A8,UGT1A9 | c.855+35249C>G (n.855+35249C>G) c.855+54064C>G (n.855+54064C>G) c.692C>G (p.Ala231Gly) | |
| 2 | g.233672626C>T | CA351080508 | UGT1A10,UGT1A8,UGT1A9 | c.855+35249C>T (n.855+35249C>T) c.855+54064C>T (n.855+54064C>T) c.692C>T (p.Ala231Val) |