| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38408943C>A | CA224784 | OTC | c.785C>A (p.Thr262Lys) c.*535C>A (n.*535C>A) c.172-257178C>A (n.172-257178C>A) | ClinVar dbSNP |
| X | g.38408943C>T | CA224785 | OTC | c.785C>T (p.Thr262Ile) c.*535C>T (n.*535C>T) c.172-257178C>T (n.172-257178C>T) | ClinVar dbSNP |
| X | g.38408943C= | CA2424884358 | OTC | c.785C= (p.Thr262=) c.*535C= (n.*535C=) c.172-257178C= (n.172-257178C=) | dbSNP |