| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38408917del | CA224771 | OTC | c.759del (p.Ala254ArgfsTer7) c.*509del (n.*509del) c.172-257204del (n.172-257204del) | ClinVar dbSNP |
| X | g.38408917A= | CA3065035854 | OTC | c.759A= (p.Ala253=) c.*509A= (n.*509A=) c.172-257204A= (n.172-257204A=) | dbSNP |