| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38403671C>A | CA224699 | OTC | c.594C>A (p.Asn198Lys) c.*344C>A (n.*344C>A) c.172-262450C>A (n.172-262450C>A) | ClinVar dbSNP |
| X | g.38403671C= | CA2424882717 | OTC | c.594C= (p.Asn198=) c.*344C= (n.*344C=) c.172-262450C= (n.172-262450C=) | dbSNP |