| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38411990G>A | CA224871 | OTC | c.996G>A (p.Trp332Ter) c.*746G>A (n.*746G>A) c.172-254131G>A (n.172-254131G>A) | ClinVar dbSNP |
| X | g.38411990G= | CA2424885264 | OTC | c.996G= (p.Trp332=) c.*746G= (n.*746G=) c.172-254131G= (n.172-254131G=) | dbSNP |