| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38403723C>G | CA224724 | OTC | c.646C>G (p.Gln216Glu) c.*396C>G (n.*396C>G) c.172-262398C>G (n.172-262398C>G) | ClinVar dbSNP |
| X | g.38403723C= | CA2424882746 | OTC | c.646C= (p.Gln216=) c.*396C= (n.*396C=) c.172-262398C= (n.172-262398C=) | dbSNP |