Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.97515839T>A | CA341378387 | DPYD | c.1627A>T (p.Ile543Leu) c.1524+33721A>T (n.1524+33721A>T) c.1516A>T (p.Ile506Leu) c.1132A>T (p.Ile378Leu) | dbSNP |
1 | g.97515839T>C | CA200992 | DPYD | c.1627A>G (p.Ile543Val) c.1524+33721A>G (n.1524+33721A>G) c.1516A>G (p.Ile506Val) c.1132A>G (p.Ile378Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.97515839T>G | CA341378388 | DPYD | c.1627A>C (p.Ile543Leu) c.1524+33721A>C (n.1524+33721A>C) c.1516A>C (p.Ile506Leu) c.1132A>C (p.Ile378Leu) | dbSNP |