Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.103300204A>T | CA182981286 | FZD6 | c.97A>T (p.Met33Leu) c.1A>T (p.Met1Leu) n.347A>T c.-49A>T (n.-49A>T) n.414A>T | dbSNP |
8 | g.103300204A>G | CA4834702 | FZD6 | c.97A>G (p.Met33Val) c.1A>G (p.Met1Val) n.347A>G c.-49A>G (n.-49A>G) n.414A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |