Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.103331379C>T | CA182551662 | FZD6 | c.1991C>T (p.Ala664Val) c.*1038C>T (n.*1038C>T) c.*1926C>T (n.*1926C>T) c.*438C>T (n.*438C>T) c.1895C>T (p.Ala632Val) n.2092C>T c.1076C>T (p.Ala359Val) n.2159C>T | dbSNP gnomAD v4 |
8 | g.103331379C>A | CA4835067 | FZD6 | c.1991C>A (p.Ala664Glu) c.*1038C>A (n.*1038C>A) c.*1926C>A (n.*1926C>A) c.*438C>A (n.*438C>A) c.1895C>A (p.Ala632Glu) n.2092C>A c.1076C>A (p.Ala359Glu) n.2159C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |