| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38408957A>C | CA224798 | OTC | c.799A>C (p.Ser267Arg) c.*549A>C (n.*549A>C) c.172-257164A>C (n.172-257164A>C) | ClinVar dbSNP |
| X | g.38408957A= | CA2424884366 | OTC | c.799A= (p.Ser267=) c.*549A= (n.*549A=) c.172-257164A= (n.172-257164A=) | dbSNP |