| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38403695G>C | CA224712 | OTC | c.618G>C (p.Met206Ile) c.*368G>C (n.*368G>C) c.172-262426G>C (n.172-262426G>C) | ClinVar dbSNP |
| X | g.38403695G>A | CA412725691 | OTC | c.618G>A (p.Met206Ile) c.*368G>A (n.*368G>A) c.172-262426G>A (n.172-262426G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |