| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38411970G>A | CA224861 | OTC | c.976G>A (p.Glu326Lys) c.*726G>A (n.*726G>A) c.172-254151G>A (n.172-254151G>A) | ClinVar dbSNP |
| X | g.38411970G= | CA2424885254 | OTC | c.976G= (p.Glu326=) c.*726G= (n.*726G=) c.172-254151G= (n.172-254151G=) | dbSNP |