| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38411999G>A | CA224432 | OTC | c.1005G>A (p.Met335Ile) c.*755G>A (n.*755G>A) c.172-254122G>A (n.172-254122G>A) | ClinVar dbSNP |
| X | g.38411999G= | CA2424885268 | OTC | c.1005G= (p.Met335=) c.*755G= (n.*755G=) c.172-254122G= (n.172-254122G=) | dbSNP |