| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38411922G>T | CA224838 | OTC | c.928G>T (p.Glu310Ter) c.*678G>T (n.*678G>T) c.172-254199G>T (n.172-254199G>T) | ClinVar dbSNP |
| X | g.38411922G= | CA2424885227 | OTC | c.928G= (p.Glu310=) c.*678G= (n.*678G=) c.172-254199G= (n.172-254199G=) | dbSNP |