| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.97515865C>G | CA341378449 | DPYD | c.1601G>C (p.Ser534Thr) c.1524+33695G>C (n.1524+33695G>C) c.1490G>C (p.Ser497Thr) c.1106G>C (p.Ser369Thr) | dbSNP |
| 1 | g.97515865C>A | CA341378445 | DPYD | c.1601G>T (p.Ser534Ile) c.1524+33695G>T (n.1524+33695G>T) c.1490G>T (p.Ser497Ile) c.1106G>T (p.Ser369Ile) | dbSNP |
| 1 | g.97515865C>T | CA228124 | DPYD | c.1601G>A (p.Ser534Asn) c.1524+33695G>A (n.1524+33695G>A) c.1490G>A (p.Ser497Asn) c.1106G>A (p.Ser369Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |