| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233772413T>G | CA122080 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1447T>G (p.Tyr483Asp) c.1459T>G (p.Tyr487Asp) c.1453T>G (p.Tyr485Asp) c.1456T>G (p.Tyr486Asp) c.652T>G (p.Tyr218Asp) c.1593T>G (n.1593T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233772413T>C | CA2180132 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1447T>C (p.Tyr483His) c.1459T>C (p.Tyr487His) c.1453T>C (p.Tyr485His) c.1456T>C (p.Tyr486His) c.652T>C (p.Tyr218His) c.1593T>C (n.1593T>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 2 | g.233772413T>A | CA67599740 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1447T>A (p.Tyr483Asn) c.1459T>A (p.Tyr487Asn) c.1453T>A (p.Tyr485Asn) c.1456T>A (p.Tyr486Asn) c.652T>A (p.Tyr218Asn) c.1593T>A (n.1593T>A) | dbSNP |