| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38403673A>G | CA224702 | OTC | c.596A>G (p.Asn199Ser) c.*346A>G (n.*346A>G) c.172-262448A>G (n.172-262448A>G) | ClinVar dbSNP |
| X | g.38403673A>T | CA412725489 | OTC | c.596A>T (p.Asn199Ile) c.*346A>T (n.*346A>T) c.172-262448A>T (n.172-262448A>T) | ClinVar dbSNP |
| X | g.38403673A= | CA2424882719 | OTC | c.596A= (p.Asn199=) c.*346A= (n.*346A=) c.172-262448A= (n.172-262448A=) | dbSNP |