| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50526474C>G | CA126791 | TYMP | c.931G>C (p.Gly311Arg) c.812G>C (p.Gly271Ala) c.415G>C (p.Gly139Arg) c.432G>C c.832G>C (p.Gly278Arg) n.937G>C n.1218G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.50526474C>A | CA16616791 | TYMP | c.931G>T (p.Gly311Cys) c.812G>T (p.Gly271Val) c.415G>T (p.Gly139Cys) c.432G>T c.832G>T (p.Gly278Cys) n.937G>T n.1218G>T | ClinVar dbSNP gnomAD v4 |
| 22 | g.50526474C>T | CA10321513 | TYMP | c.931G>A (p.Gly311Ser) c.812G>A (p.Gly271Glu) c.415G>A (p.Gly139Ser) c.432G>A c.832G>A (p.Gly278Ser) n.937G>A n.1218G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |