| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38408778G>T | CA224746 | OTC | c.700G>T (p.Glu234Ter) c.*450G>T (n.*450G>T) c.172-257343G>T (n.172-257343G>T) | ClinVar dbSNP |
| X | g.38408778G= | CA2424884291 | OTC | c.700G= (p.Glu234=) c.*450G= (n.*450G=) c.172-257343G= (n.172-257343G=) | dbSNP |