| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38403736C>T | CA224728 | OTC | c.659C>T (p.Pro220Leu) c.*409C>T (n.*409C>T) c.172-262385C>T (n.172-262385C>T) | ClinVar dbSNP |
| X | g.38403736C= | CA2424882752 | OTC | c.659C= (p.Pro220=) c.*409C= (n.*409C=) c.172-262385C= (n.172-262385C=) | dbSNP |