| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.72022386C>G | CA396685105 | DHODH | c.730C>G (p.Arg244Gly) n.1485-779C>G n.314-779C>G c.514-1759C>G c.646C>G (p.Arg216Gly) c.322C>G (p.Arg108Gly) c.301C>G (p.Arg101Gly) c.403C>G (p.Arg135Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.72022386C>T | CA126902 | DHODH | c.730C>T (p.Arg244Trp) n.1485-779C>T n.314-779C>T c.514-1759C>T c.646C>T (p.Arg216Trp) c.322C>T (p.Arg108Trp) c.301C>T (p.Arg101Trp) c.403C>T (p.Arg135Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |