| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38421059C>T | CA224448 | OTC | c.1042C>T (p.Gln348Ter) c.*792C>T (n.*792C>T) c.172-245062C>T (n.172-245062C>T) | ClinVar dbSNP |
| X | g.38421059C= | CA2424888121 | OTC | c.1042C= (p.Gln348=) c.*792C= (n.*792C=) c.172-245062C= (n.172-245062C=) | dbSNP |