| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233767873C>G | CA351072904 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1012C>G (p.Arg338Gly) c.1024C>G (p.Arg342Gly) c.1018C>G (p.Arg340Gly) c.1021C>G (p.Arg341Gly) c.217C>G (p.Arg73Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.233767873C>T | CA122029 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1012C>T (p.Arg338Ter) c.1024C>T (p.Arg342Ter) c.1018C>T (p.Arg340Ter) c.1021C>T (p.Arg341Ter) c.217C>T (p.Arg73Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767873C= | CA1335895078 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1012C= (p.Arg338=) c.1024C= (p.Arg342=) c.1018C= (p.Arg340=) c.1021C= (p.Arg341=) c.217C= (p.Arg73=) | dbSNP |