| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50526611C>T | CA16616790 | TYMP | c.893G>A (p.Gly298Asp) c.774G>A (p.Arg258=) c.377G>A (p.Gly126Asp) c.394G>A c.794G>A (p.Gly265Asp) n.899G>A n.1180G>A | ClinVar dbSNP gnomAD v4 |
| 22 | g.50526611C= | CA2410908030 | TYMP | c.893G= (p.Gly298=) c.774G= (p.Arg258=) c.377G= (p.Gly126=) c.394G= c.794G= (p.Gly265=) n.899G= n.1180G= | dbSNP |