Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11100293C>T | CA041898 | LDLR | c.396C>T (p.Cys132=) c.138C>T (p.Cys46=) c.392C>T n.224C>T n.288C>T n.255C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11100293C>A | CA10584766 | LDLR | c.396C>A (p.Cys132Ter) c.138C>A (p.Cys46Ter) c.392C>A n.224C>A n.288C>A n.255C>A | ClinVar dbSNP |