| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50527629C>G | CA126797 | TYMP | c.605G>C (p.Arg202Thr) c.89G>C (p.Arg30Thr) n.724G>C c.316G>C (p.Glu106Gln) c.61G>C c.506G>C (p.Arg169Thr) n.730G>C n.892G>C | ClinVar dbSNP |
| 22 | g.50527629C>T | CA10321689 | TYMP | c.605G>A (p.Arg202Lys) c.89G>A (p.Arg30Lys) n.724G>A c.316G>A (p.Glu106Lys) c.61G>A c.506G>A (p.Arg169Lys) n.730G>A n.892G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |