| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11113557G>T | CA023475 | LDLR | c.1639G>T (p.Gly547Cys) c.1381G>T (p.Gly461Cys) c.1261G>T (p.Gly421Cys) c.1635G>T c.877G>T (p.Gly293Cys) c.1258G>T (p.Gly420Cys) c.1000G>T (p.Gly334Cys) c.102G>T c.861G>T n.1531G>T n.1498G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11113557G>A | CA023472 | LDLR | c.1639G>A (p.Gly547Ser) c.1381G>A (p.Gly461Ser) c.1261G>A (p.Gly421Ser) c.1635G>A c.877G>A (p.Gly293Ser) c.1258G>A (p.Gly420Ser) c.1000G>A (p.Gly334Ser) c.102G>A c.861G>A n.1531G>A n.1498G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |