| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38403672A>G | CA224700 | OTC | c.595A>G (p.Asn199Asp) c.*345A>G (n.*345A>G) c.172-262449A>G (n.172-262449A>G) | ClinVar dbSNP |
| X | g.38403672A= | CA2424882718 | OTC | c.595A= (p.Asn199=) c.*345A= (n.*345A=) c.172-262449A= (n.172-262449A=) | dbSNP |