| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.38403720C>A | CA412725935 | OTC | c.643C>A (p.Leu215Ile) c.*393C>A (n.*393C>A) c.172-262401C>A (n.172-262401C>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.38403720C>T | CA224721 | OTC | c.643C>T (p.Leu215Phe) c.*393C>T (n.*393C>T) c.172-262401C>T (n.172-262401C>T) | ClinVar dbSNP |
| X | g.38403720C= | CA2424882745 | OTC | c.643C= (p.Leu215=) c.*393C= (n.*393C=) c.172-262401C= (n.172-262401C=) | dbSNP |