| 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 |
| 2 | g.233768226C>A | CA351073704 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1082C>A (p.Pro361Gln) c.1094C>A (p.Pro365Gln) c.1088C>A (p.Pro363Gln) c.1091C>A (p.Pro364Gln) c.287C>A (p.Pro96Gln) | dbSNP gnomAD v4 |
| 2 | g.233768226C= | CA1335895233 | UGT1A1,UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9 | c.1082C= (p.Pro361=) c.1094C= (p.Pro365=) c.1088C= (p.Pro363=) c.1091C= (p.Pro364=) c.287C= (p.Pro96=) | dbSNP |