| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38401343C>T | CA224617 | OTC | c.455C>T (p.Ala152Val) c.*205C>T (n.*205C>T) c.172-264778C>T (n.172-264778C>T) n.492C>T | ClinVar dbSNP |
| X | g.38401343C= | CA2424881846 | OTC | c.455C= (p.Ala152=) c.*205C= (n.*205C=) c.172-264778C= (n.172-264778C=) n.492C= | dbSNP |