| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38411985A>T | CA224865 | OTC | c.991A>T (p.Lys331Ter) c.*741A>T (n.*741A>T) c.172-254136A>T (n.172-254136A>T) | ClinVar dbSNP |
| X | g.38411985A= | CA2424885261 | OTC | c.991A= (p.Lys331=) c.*741A= (n.*741A=) c.172-254136A= (n.172-254136A=) | dbSNP |