Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233767936G>T | CA351073521 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075G>T (p.Gly359Cys) c.1087G>T (p.Gly363Cys) c.1081G>T (p.Gly361Cys) c.1084G>T (p.Gly362Cys) c.280G>T (p.Gly94Cys) | dbSNP |
2 | g.233767936G>A | CA2179986 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1075G>A (p.Gly359Ser) c.1087G>A (p.Gly363Ser) c.1081G>A (p.Gly361Ser) c.1084G>A (p.Gly362Ser) c.280G>A (p.Gly94Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |