| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38403653C>G | CA224683 | OTC | c.576C>G (p.Ser192Arg) c.*326C>G (n.*326C>G) c.172-262468C>G (n.172-262468C>G) n.613C>G | ClinVar dbSNP |
| X | g.38403653C= | CA2424882702 | OTC | c.576C= (p.Ser192=) c.*326C= (n.*326C=) c.172-262468C= (n.172-262468C=) n.613C= | dbSNP |