| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38411982A>G | CA224864 | OTC | c.988A>G (p.Arg330Gly) c.*738A>G (n.*738A>G) c.172-254139A>G (n.172-254139A>G) | ClinVar dbSNP |
| X | g.38411982A= | CA2424885259 | OTC | c.988A= (p.Arg330=) c.*738A= (n.*738A=) c.172-254139A= (n.172-254139A=) | dbSNP |