| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38408993C>T | CA224811 | OTC | c.835C>T (p.Gln279Ter) c.*585C>T (n.*585C>T) c.172-257128C>T (n.172-257128C>T) | ClinVar dbSNP |
| X | g.38408993C= | CA2424884382 | OTC | c.835C= (p.Gln279=) c.*585C= (n.*585C=) c.172-257128C= (n.172-257128C=) | dbSNP |