| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38408966C>T | CA224801 | OTC | c.808C>T (p.Gln270Ter) c.*558C>T (n.*558C>T) c.172-257155C>T (n.172-257155C>T) | ClinVar dbSNP |
| X | g.38408966C>A | CA412723174 | OTC | c.808C>A (p.Gln270Lys) c.*558C>A (n.*558C>A) c.172-257155C>A (n.172-257155C>A) | dbSNP gnomAD v4 |
| X | g.38408966C>G | CA221094 | OTC | c.808C>G (p.Gln270Glu) c.*558C>G (n.*558C>G) c.172-257155C>G (n.172-257155C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |