| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11106576T>A | CA404079433 | LDLR | c.964T>A (p.Cys322Ser) c.706T>A (p.Cys236Ser) c.960T>A c.314-816T>A (n.314-816T>A) c.583T>A (p.Cys195Ser) c.325T>A (p.Cys109Ser) n.221T>A c.306T>A n.856T>A n.823T>A | ClinVar dbSNP |
| 19 | g.11106576T>G | CA16602313 | LDLR | c.964T>G (p.Cys322Gly) c.706T>G (p.Cys236Gly) c.960T>G c.314-816T>G (n.314-816T>G) c.583T>G (p.Cys195Gly) c.325T>G (p.Cys109Gly) n.221T>G c.306T>G n.856T>G n.823T>G | ClinVar dbSNP |
| 19 | g.11106576T>C | CA10585100 | LDLR | c.964T>C (p.Cys322Arg) c.706T>C (p.Cys236Arg) c.960T>C c.314-816T>C (n.314-816T>C) c.583T>C (p.Cys195Arg) c.325T>C (p.Cys109Arg) n.221T>C c.306T>C n.856T>C n.823T>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11106576T= | CA2322768147 | LDLR | c.964T= (p.Cys322=) c.706T= (p.Cys236=) c.960T= c.314-816T= (n.314-816T=) c.583T= (p.Cys195=) c.325T= (p.Cys109=) n.221T= c.306T= n.856T= n.823T= | dbSNP |