| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38403685C>T | CA412725627 | OTC | c.608C>T (p.Ser203Phe) c.*358C>T (n.*358C>T) c.172-262436C>T (n.172-262436C>T) | ClinVar dbSNP |
| X | g.38403685C>G | CA224708 | OTC | c.608C>G (p.Ser203Cys) c.*358C>G (n.*358C>G) c.172-262436C>G (n.172-262436C>G) | ClinVar dbSNP |
| X | g.38403685C= | CA2424882723 | OTC | c.608C= (p.Ser203=) c.*358C= (n.*358C=) c.172-262436C= (n.172-262436C=) | dbSNP |