Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.69714966G>C | CA283357642 | NQO1 | c.415C>G (p.Arg139Gly) c.304-1837C>G (n.304-1837C>G) c.303+3157C>G (n.303+3157C>G) c.352C>G (p.Arg118Gly) | dbSNP |
16 | g.69714966G>A | CA8136225 | NQO1 | c.415C>T (p.Arg139Trp) c.304-1837C>T (n.304-1837C>T) c.303+3157C>T (n.303+3157C>T) c.352C>T (p.Arg118Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |