Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.38408889T>C | CA412722291 | OTC | c.731T>C (p.Leu244Pro) c.*481T>C (n.*481T>C) c.172-257232T>C (n.172-257232T>C) | ClinVar dbSNP |
X | g.38408889T>A | CA224764 | OTC | c.731T>A (p.Leu244Gln) c.*481T>A (n.*481T>A) c.172-257232T>A (n.172-257232T>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |