| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50526467A>G | CA16616792 | TYMP | c.938T>C (p.Leu313Pro) c.819T>C (p.Pro273=) c.422T>C (p.Leu141Pro) c.439T>C c.839T>C (p.Leu280Pro) n.944T>C n.1225T>C | ClinVar dbSNP gnomAD v4 |
| 22 | g.50526467A= | CA2410907903 | TYMP | c.938T= (p.Leu313=) c.819T= (p.Pro273=) c.422T= (p.Leu141=) c.439T= c.839T= (p.Leu280=) n.944T= n.1225T= | dbSNP |