| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38403698C>T | CA10385896 | OTC | c.621C>T (p.Ser207=) c.*371C>T (n.*371C>T) c.172-262423C>T (n.172-262423C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.38403698C>A | CA224715 | OTC | c.621C>A (p.Ser207Arg) c.*371C>A (n.*371C>A) c.172-262423C>A (n.172-262423C>A) | ClinVar dbSNP gnomAD v4 |