Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11116168C>A | CA10585550 | LDLR | c.1919C>A (p.Ser640Ter) c.1661C>A (p.Ser554Ter) c.1541C>A (p.Ser514Ter) c.1915C>A c.1157C>A (p.Ser386Ter) c.1538C>A (p.Ser513Ter) c.1280C>A (p.Ser427Ter) c.382C>A n.1811C>A n.1778C>A | ClinVar dbSNP |
19 | g.11116168C>T | CA10585551 | LDLR | c.1919C>T (p.Ser640Leu) c.1661C>T (p.Ser554Leu) c.1541C>T (p.Ser514Leu) c.1915C>T c.1157C>T (p.Ser386Leu) c.1538C>T (p.Ser513Leu) c.1280C>T (p.Ser427Leu) c.382C>T n.1811C>T n.1778C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |