| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.97450101C>T | CA16040800 | DPYD | c.1863G>A (p.Trp621Ter) c.1647G>A (p.Trp549Ter) c.1752G>A (p.Trp584Ter) c.1368G>A (p.Trp456Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97450101C>G | CA341375997 | DPYD | c.1863G>C (p.Trp621Cys) c.1647G>C (p.Trp549Cys) c.1752G>C (p.Trp584Cys) c.1368G>C (p.Trp456Cys) | dbSNP |
| 1 | g.97450101C>A | CA341375996 | DPYD | c.1863G>T (p.Trp621Cys) c.1647G>T (p.Trp549Cys) c.1752G>T (p.Trp584Cys) c.1368G>T (p.Trp456Cys) | dbSNP gnomAD v4 |