| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233767092G>A | CA122054 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.914G>A (p.Gly305Glu) c.926G>A (p.Gly309Glu) c.920G>A (p.Gly307Glu) c.923G>A (p.Gly308Glu) c.119G>A (p.Gly40Glu) c.500G>A (n.500G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767092G= | CA1335894719 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.914G= (p.Gly305=) c.926G= (p.Gly309=) c.920G= (p.Gly307=) c.923G= (p.Gly308=) c.119G= (p.Gly40=) c.500G= (n.500G=) | dbSNP |