| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.97691776G>A | CA963582 | DPYD | c.703C>T (p.Arg235Trp) n.467C>T c.592C>T (p.Arg198Trp) c.208C>T (p.Arg70Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.97691776G= | CA1139894828 | DPYD | c.703C= (p.Arg235=) n.467C= c.592C= (p.Arg198=) c.208C= (p.Arg70=) | dbSNP |
| 1 | g.97691776G>C | CA341379307 | DPYD | c.703C>G (p.Arg235Gly) n.467C>G c.592C>G (p.Arg198Gly) c.208C>G (p.Arg70Gly) | dbSNP gnomAD v4 |