| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.50526657G>C | CA16616787 | TYMP | c.847C>G (p.His283Asp) c.728C>G (p.Pro243Arg) c.331C>G (p.His111Asp) c.348C>G c.748C>G (p.His250Asp) n.853C>G n.1134C>G | ClinVar dbSNP |
| 22 | g.50526657G>A | CA412199106 | TYMP | c.847C>T (p.His283Tyr) c.728C>T (p.Pro243Leu) c.331C>T (p.His111Tyr) c.348C>T c.748C>T (p.His250Tyr) n.853C>T n.1134C>T | dbSNP gnomAD v4 |
| 22 | g.50526657G= | CA2410908063 | TYMP | c.847C= (p.His283=) c.728C= (p.Pro243=) c.331C= (p.His111=) c.348C= c.748C= (p.His250=) n.853C= n.1134C= | dbSNP |