| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38408937T>C | CA224778 | OTC | c.779T>C (p.Leu260Ser) c.*529T>C (n.*529T>C) c.172-257184T>C (n.172-257184T>C) | ClinVar dbSNP |
| X | g.38408937T= | CA2424884357 | OTC | c.779T= (p.Leu260=) c.*529T= (n.*529T=) c.172-257184T= (n.172-257184T=) | dbSNP |