Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.186208972C>A | CA358950274 | CYP4V2 | c.1198C>A (p.Arg400Ser) n.433C>A n.5896C>A n.288C>A c.802C>A (p.Arg268Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.186208972C>T | CA343712 | CYP4V2 | c.1198C>T (p.Arg400Cys) n.433C>T n.5896C>T n.288C>T c.802C>T (p.Arg268Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |