| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38411988T>A | CA224867 | OTC | c.994T>A (p.Trp332Arg) c.*744T>A (n.*744T>A) c.172-254133T>A (n.172-254133T>A) | ClinVar dbSNP |
| X | g.38411988T= | CA2424885262 | OTC | c.994T= (p.Trp332=) c.*744T= (n.*744T=) c.172-254133T= (n.172-254133T=) | dbSNP |