| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105519C>G | CA404077826 | LDLR | c.871C>G (p.Leu291Val) c.613C>G (p.Leu205Val) c.867C>G c.314-1873C>G (n.314-1873C>G) c.490C>G (p.Leu164Val) c.314-1046C>G (n.314-1046C>G) c.213C>G n.763C>G n.730C>G | ClinVar dbSNP |
| 19 | g.11105519C>T | CA505743457 | LDLR | c.871C>T (p.Leu291=) c.613C>T (p.Leu205=) c.867C>T c.314-1873C>T (n.314-1873C>T) c.490C>T (p.Leu164=) c.314-1046C>T (n.314-1046C>T) c.213C>T n.763C>T n.730C>T | dbSNP gnomAD v2 gnomAD v4 |