| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105233C>A | CA16602297 | LDLR | c.585C>A (p.Cys195Ter) c.327C>A (p.Cys109Ter) c.581C>A c.314-2159C>A (n.314-2159C>A) c.204C>A (p.Cys68Ter) c.314-1332C>A (n.314-1332C>A) n.477C>A n.444C>A | ClinVar dbSNP |
| 19 | g.11105233C= | CA2322767282 | LDLR | c.585C= (p.Cys195=) c.327C= (p.Cys109=) c.581C= c.314-2159C= (n.314-2159C=) c.204C= (p.Cys68=) c.314-1332C= (n.314-1332C=) n.477C= n.444C= | dbSNP dbSNP |