| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38408945G>A | CA224787 | OTC | c.787G>A (p.Asp263Asn) c.*537G>A (n.*537G>A) c.172-257176G>A (n.172-257176G>A) | ClinVar dbSNP |
| X | g.38408945G= | CA2424884359 | OTC | c.787G= (p.Asp263=) c.*537G= (n.*537G=) c.172-257176G= (n.172-257176G=) | dbSNP |