| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38421023G>T | CA224436 | OTC | c.1006G>T (p.Ala336Ser) c.*756G>T (n.*756G>T) c.172-245098G>T (n.172-245098G>T) | ClinVar dbSNP |
| X | g.38421023G= | CA2424888102 | OTC | c.1006G= (p.Ala336=) c.*756G= (n.*756G=) c.172-245098G= (n.172-245098G=) | dbSNP |