Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.97699535T>A | CA341379955 | DPYD | c.496A>T (p.Met166Leu) n.260A>T c.385A>T (p.Met129Leu) c.1A>T (p.Met1Leu) n.735A>T | dbSNP |
1 | g.97699535T>C | CA228168 | DPYD | c.496A>G (p.Met166Val) n.260A>G c.385A>G (p.Met129Val) c.1A>G (p.Met1Val) n.735A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |