Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.233768226C>G | CA351073708 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1082C>G (p.Pro361Arg) c.1094C>G (p.Pro365Arg) c.1088C>G (p.Pro363Arg) c.1091C>G (p.Pro364Arg) c.287C>G (p.Pro96Arg) | dbSNP |
2 | g.233768226C>T | CA209149 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1082C>T (p.Pro361Leu) c.1094C>T (p.Pro365Leu) c.1088C>T (p.Pro363Leu) c.1091C>T (p.Pro364Leu) c.287C>T (p.Pro96Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |