| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38408976del | CA224807 | OTC | c.818del (p.Glu273GlyfsTer16) c.*568del (n.*568del) c.172-257145del (n.172-257145del) | ClinVar dbSNP |
| X | g.38408976A= | CA3065035855 | OTC | c.818A= (p.Glu273=) c.*568A= (n.*568A=) c.172-257145A= (n.172-257145A=) | dbSNP |