| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38369850del | CA224527 | OTC | c.271del (p.Thr91LeufsTer30) c.271del (p.Thr91LeufsTer12) c.172-296271del (n.172-296271del) n.353+10del | ClinVar dbSNP |
| X | g.38369850A= | CA3065035853 | OTC | c.271A= (p.Thr91=) c.172-296271A= (n.172-296271A=) n.353+10A= | dbSNP |