| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50526638T>G | CA126758 | TYMP | c.866A>C (p.Glu289Ala) c.747A>C (p.Gly249=) c.350A>C (p.Glu117Ala) c.367A>C c.767A>C (p.Glu256Ala) n.872A>C n.1153A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.50526638T= | CA2410908050 | TYMP | c.866A= (p.Glu289=) c.747A= (p.Gly249=) c.350A= (p.Glu117=) c.367A= c.767A= (p.Glu256=) n.872A= n.1153A= | dbSNP |