| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38411956C>A | CA224859 | OTC | c.962C>A (p.Ser321Ter) c.*712C>A (n.*712C>A) c.172-254165C>A (n.172-254165C>A) | ClinVar dbSNP |
| X | g.38411956C>T | CA412726552 | OTC | c.962C>T (p.Ser321Leu) c.*712C>T (n.*712C>T) c.172-254165C>T (n.172-254165C>T) | ClinVar dbSNP |
| X | g.38411956C= | CA2424885248 | OTC | c.962C= (p.Ser321=) c.*712C= (n.*712C=) c.172-254165C= (n.172-254165C=) | dbSNP |