Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11105231T>C | CA10584855 | LDLR | c.583T>C (p.Cys195Arg) c.325T>C (p.Cys109Arg) c.579T>C c.314-2161T>C (n.314-2161T>C) c.202T>C (p.Cys68Arg) c.314-1334T>C (n.314-1334T>C) n.475T>C n.442T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105231T>G | CA404076225 | LDLR | c.583T>G (p.Cys195Gly) c.325T>G (p.Cys109Gly) c.579T>G c.314-2161T>G (n.314-2161T>G) c.202T>G (p.Cys68Gly) c.314-1334T>G (n.314-1334T>G) n.475T>G n.442T>G | ClinVar dbSNP |