Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11106680C>A | CA10585144 | LDLR | c.1068C>A (p.Cys356Ter) c.810C>A (p.Cys270Ter) c.1064C>A c.314-712C>A (n.314-712C>A) c.687C>A (p.Cys229Ter) c.429C>A (p.Cys143Ter) n.325C>A c.410C>A n.960C>A n.927C>A | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.11106680C>G | CA404080270 | LDLR | c.1068C>G (p.Cys356Trp) c.810C>G (p.Cys270Trp) c.1064C>G c.314-712C>G (n.314-712C>G) c.687C>G (p.Cys229Trp) c.429C>G (p.Cys143Trp) n.325C>G c.410C>G n.960C>G n.927C>G | ClinVar dbSNP |
19 | g.11106680C>T | CA029479 | LDLR | c.1068C>T (p.Cys356=) c.810C>T (p.Cys270=) c.1064C>T c.314-712C>T (n.314-712C>T) c.687C>T (p.Cys229=) c.429C>T (p.Cys143=) n.325C>T c.410C>T n.960C>T n.927C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |