| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38408964G>A | CA224800 | OTC | c.806G>A (p.Gly269Glu) c.*556G>A (n.*556G>A) c.172-257157G>A (n.172-257157G>A) | ClinVar dbSNP |
| X | g.38408964G= | CA2424884372 | OTC | c.806G= (p.Gly269=) c.*556G= (n.*556G=) c.172-257157G= (n.172-257157G=) | dbSNP |