| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233768259C>T | CA122007 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1115C>T (p.Ser372Phe) c.1127C>T (p.Ser376Phe) c.1121C>T (p.Ser374Phe) c.1124C>T (p.Ser375Phe) c.320C>T (p.Ser107Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.233768259C= | CA1335895255 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1115C= (p.Ser372=) c.1127C= (p.Ser376=) c.1121C= (p.Ser374=) c.1124C= (p.Ser375=) c.320C= (p.Ser107=) | dbSNP |