| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38411947C>T | CA224856 | OTC | c.953C>T (p.Ser318Phe) c.*703C>T (n.*703C>T) c.172-254174C>T (n.172-254174C>T) | ClinVar dbSNP |
| X | g.38411947C= | CA2424885242 | OTC | c.953C= (p.Ser318=) c.*703C= (n.*703C=) c.172-254174C= (n.172-254174C=) | dbSNP |