| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38408949C>A | CA224790 | OTC | c.791C>A (p.Thr264Asn) c.*541C>A (n.*541C>A) c.172-257172C>A (n.172-257172C>A) | ClinVar dbSNP |
| X | g.38408949C>T | CA224792 | OTC | c.791C>T (p.Thr264Ile) c.*541C>T (n.*541C>T) c.172-257172C>T (n.172-257172C>T) | ClinVar dbSNP |
| X | g.38408949C= | CA2424884362 | OTC | c.791C= (p.Thr264=) c.*541C= (n.*541C=) c.172-257172C= (n.172-257172C=) | dbSNP |