| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38408952G>T | CA224795 | OTC | c.794G>T (p.Trp265Leu) c.*544G>T (n.*544G>T) c.172-257169G>T (n.172-257169G>T) | ClinVar dbSNP |
| X | g.38408952G= | CA2424884364 | OTC | c.794G= (p.Trp265=) c.*544G= (n.*544G=) c.172-257169G= (n.172-257169G=) | dbSNP |