Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.127440806C>A | CA129567 | MEGF10 | c.2301C>A (p.Cys767Ter) n.542C>A c.2466C>A (p.Cys822Ter) c.1161C>A (p.Cys387Ter) | ClinVar dbSNP |
5 | g.127440806C>T | CA3391896 | MEGF10 | c.2301C>T (p.Cys767=) n.542C>T c.2466C>T (p.Cys822=) c.1161C>T (p.Cys387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |