| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38421039T>C | CA224440 | OTC | c.1022T>C (p.Leu341Pro) c.*772T>C (n.*772T>C) c.172-245082T>C (n.172-245082T>C) | ClinVar dbSNP |
| X | g.38421039T= | CA2424888112 | OTC | c.1022T= (p.Leu341=) c.*772T= (n.*772T=) c.172-245082T= (n.172-245082T=) | dbSNP |