| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38411941T>C | CA224852 | OTC | c.947T>C (p.Phe316Ser) c.*697T>C (n.*697T>C) c.172-254180T>C (n.172-254180T>C) | ClinVar dbSNP |
| X | g.38411941T= | CA2424885238 | OTC | c.947T= (p.Phe316=) c.*697T= (n.*697T=) c.172-254180T= (n.172-254180T=) | dbSNP |