| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38411989G>A | CA224869 | OTC | c.995G>A (p.Trp332Ter) c.*745G>A (n.*745G>A) c.172-254132G>A (n.172-254132G>A) | ClinVar dbSNP |
| X | g.38411989G= | CA2424885263 | OTC | c.995G= (p.Trp332=) c.*745G= (n.*745G=) c.172-254132G= (n.172-254132G=) | dbSNP |