| 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 |
