| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233760795_233760797del | CA122051 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.508_510del (p.Phe171del) c.862-6239_862-6237del (p.=) c.868-6239_868-6237del (p.=) c.856-6239_856-6237del (p.=) n.856-6239_856-6237del (p.=) n.868-6239_868-6237del (p.=) c.61-6239_61-6237del (p.=) n.508_510del (p.Phe171del) n.442-6239_442-6237del (p.=) | ClinVar dbSNP ExAC gnomAD |
| 2 | g.233760800_233760802delinsTTC | CA67590075 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.513_515delinsTTC (p.Leu172Ser) c.862-6234_862-6232delinsTTC (p.=) c.868-6234_868-6232delinsTTC (p.=) c.856-6234_856-6232delinsTTC (p.=) n.856-6234_856-6232delinsTTC (p.=) n.868-6234_868-6232delinsTTC (p.=) c.61-6234_61-6232delinsTTC (p.=) n.513_515delinsTTC (p.Leu172Ser) n.442-6234_442-6232delinsTTC (p.=) | dbSNP |