| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11113584A>T | CA404085821 | LDLR | c.1666A>T (p.Ser556Cys) c.1408A>T (p.Ser470Cys) c.1288A>T (p.Ser430Cys) c.1662A>T c.904A>T (p.Ser302Cys) c.1285A>T (p.Ser429Cys) c.1027A>T (p.Ser343Cys) c.129A>T c.888A>T n.1558A>T n.1525A>T | ClinVar dbSNP |
| 19 | g.11113584A>G | CA10654852 | LDLR | c.1666A>G (p.Ser556Gly) c.1408A>G (p.Ser470Gly) c.1288A>G (p.Ser430Gly) c.1662A>G c.904A>G (p.Ser302Gly) c.1285A>G (p.Ser429Gly) c.1027A>G (p.Ser343Gly) c.129A>G c.888A>G n.1558A>G n.1525A>G | ClinVar dbSNP gnomAD v4 |