Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233760498G>C | CA351066158 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6536G>C (n.856-6536G>C) c.868-6536G>C (n.868-6536G>C) c.862-6536G>C (n.862-6536G>C) c.211G>C (p.Gly71Arg) c.61-6536G>C (n.61-6536G>C) c.442-6536G>C (n.442-6536G>C) | dbSNP |
2 | g.233760498G>A | CA122078 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.856-6536G>A (n.856-6536G>A) c.868-6536G>A (n.868-6536G>A) c.862-6536G>A (n.862-6536G>A) c.211G>A (p.Gly71Arg) c.61-6536G>A (n.61-6536G>A) c.442-6536G>A (n.442-6536G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |