Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41016810C>G | CA308470403 | CYP2B6 | c.1459C>G (p.Arg487Gly) c.1399C>G c.751C>G (p.Arg251Gly) n.812C>G c.*48C>G (n.*48C>G) c.979C>G (p.Arg327Gly) c.868C>G (p.Arg290Gly) c.859C>G (p.Arg287Gly) | dbSNP gnomAD v4 |
19 | g.41016810C>A | CA9455614 | CYP2B6 | c.1459C>A (p.Arg487Ser) c.1399C>A c.751C>A (p.Arg251Ser) n.812C>A c.*48C>A (n.*48C>A) c.979C>A (p.Arg327Ser) c.868C>A (p.Arg290Ser) c.859C>A (p.Arg287Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41016810C>T | CA9455613 | CYP2B6 | c.1459C>T (p.Arg487Cys) c.1399C>T c.751C>T (p.Arg251Cys) n.812C>T c.*48C>T (n.*48C>T) c.979C>T (p.Arg327Cys) c.868C>T (p.Arg290Cys) c.859C>T (p.Arg287Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |