| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38408946A>G | CA224788 | OTC | c.788A>G (p.Asp263Gly) c.*538A>G (n.*538A>G) c.172-257175A>G (n.172-257175A>G) | ClinVar dbSNP |
| X | g.38408946A= | CA2424884360 | OTC | c.788A= (p.Asp263=) c.*538A= (n.*538A=) c.172-257175A= (n.172-257175A=) | dbSNP |