| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38411906G>T | CA224834 | OTC | c.912G>T (p.Leu304Phe) c.*662G>T (n.*662G>T) c.172-254215G>T (n.172-254215G>T) | ClinVar dbSNP |
| X | g.38411906G= | CA2424885220 | OTC | c.912G= (p.Leu304=) c.*662G= (n.*662G=) c.172-254215G= (n.172-254215G=) | dbSNP |