| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.233767921C>T | CA10605065 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1060C>T (p.Gln354Ter) c.1072C>T (p.Gln358Ter) c.1066C>T (p.Gln356Ter) c.1069C>T (p.Gln357Ter) c.265C>T (p.Gln89Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.233767921C= | CA1335895106 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1060C= (p.Gln354=) c.1072C= (p.Gln358=) c.1066C= (p.Gln356=) c.1069C= (p.Gln357=) c.265C= (p.Gln89=) | dbSNP |