| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38421035T>C | CA224439 | OTC | c.1018T>C (p.Ser340Pro) c.*768T>C (n.*768T>C) c.172-245086T>C (n.172-245086T>C) | ClinVar dbSNP |
| X | g.38421035T= | CA2424888108 | OTC | c.1018T= (p.Ser340=) c.*768T= (n.*768T=) c.172-245086T= (n.172-245086T=) | dbSNP |