Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.18222237C>A | CA459877543 | NAT1 | c.190C>A (p.Arg64=) c.376C>A (p.Arg126=) n.542C>A n.451C>A n.717C>A | dbSNP gnomAD v3 gnomAD v4 |
8 | g.18222237C>T | CA4651345 | NAT1 | c.190C>T (p.Arg64Trp) c.376C>T (p.Arg126Trp) n.542C>T n.451C>T n.717C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |