| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38411876del | CA224818 | OTC | c.882del (p.Ala295ProfsTer28) c.*632del (n.*632del) c.172-254245del (n.172-254245del) c.*15del (n.*15del) | ClinVar dbSNP |
| X | g.38411876T= | CA3065035856 | OTC | c.882T= (p.Ala294=) c.*632T= (n.*632T=) c.172-254245T= (n.172-254245T=) c.*15T= (n.*15T=) | dbSNP |