| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.97699370C>A | CA963599 | DPYD | c.661G>T (p.Glu221Ter) n.425G>T c.550G>T (p.Glu184Ter) c.166G>T (p.Glu56Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97699370C>T | CA341379606 | DPYD | c.661G>A (p.Glu221Lys) n.425G>A c.550G>A (p.Glu184Lys) c.166G>A (p.Glu56Lys) | dbSNP gnomAD v4 COSMIC |
| 1 | g.97699370C= | CA1142099116 | DPYD | c.661G= (p.Glu221=) n.425G= c.550G= (p.Glu184=) c.166G= (p.Glu56=) | dbSNP |