| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38403717C>T | CA224720 | OTC | c.640C>T (p.His214Tyr) c.*390C>T (n.*390C>T) c.172-262404C>T (n.172-262404C>T) | ClinVar dbSNP |
| X | g.38403717C= | CA2424882743 | OTC | c.640C= (p.His214=) c.*390C= (n.*390C=) c.172-262404C= (n.172-262404C=) | dbSNP |