| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38408883C>A | CA234475 | OTC | c.725C>A (p.Thr242Asn) c.*475C>A (n.*475C>A) c.172-257238C>A (n.172-257238C>A) | ClinVar dbSNP |
| X | g.38408883C>T | CA224763 | OTC | c.725C>T (p.Thr242Ile) c.*475C>T (n.*475C>T) c.172-257238C>T (n.172-257238C>T) | ClinVar dbSNP |
| X | g.38408883C= | CA2424884336 | OTC | c.725C= (p.Thr242=) c.*475C= (n.*475C=) c.172-257238C= (n.172-257238C=) | dbSNP |