| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.97515785G>A | CA16040802 | DPYD | c.1681C>T (p.Arg561Ter) c.1524+33775C>T (n.1524+33775C>T) c.1570C>T (p.Arg524Ter) c.1186C>T (p.Arg396Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.97515785G>C | CA341378279 | DPYD | c.1681C>G (p.Arg561Gly) c.1524+33775C>G (n.1524+33775C>G) c.1570C>G (p.Arg524Gly) c.1186C>G (p.Arg396Gly) | dbSNP gnomAD v4 |
| 1 | g.97515785G>T | CA419142506 | DPYD | c.1681C>A (p.Arg561=) c.1524+33775C>A (n.1524+33775C>A) c.1570C>A (p.Arg524=) c.1186C>A (p.Arg396=) | dbSNP gnomAD v4 |