| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50527704A>G | CA16616782 | TYMP | c.530T>C (p.Leu177Pro) c.14T>C (p.Leu5Pro) n.649T>C c.241T>C (p.Trp81Arg) c.431T>C (p.Leu144Pro) n.655T>C n.817T>C | ClinVar dbSNP gnomAD v4 |
| 22 | g.50527704A= | CA2410908734 | TYMP | c.530T= (p.Leu177=) c.14T= (p.Leu5=) n.649T= c.241T= (p.Trp81=) c.431T= (p.Leu144=) n.655T= n.817T= | dbSNP |