| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11113292C>T | CA404084679 | LDLR | c.1459C>T (p.Leu487Phe) c.1201C>T (p.Leu401Phe) c.1081C>T (p.Leu361Phe) c.1455C>T c.697C>T (p.Leu233Phe) c.1078C>T (p.Leu360Phe) c.820C>T (p.Leu274Phe) n.200C>T c.681C>T n.1351C>T n.1318C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11113292C>G | CA023432 | LDLR | c.1459C>G (p.Leu487Val) c.1201C>G (p.Leu401Val) c.1081C>G (p.Leu361Val) c.1455C>G c.697C>G (p.Leu233Val) c.1078C>G (p.Leu360Val) c.820C>G (p.Leu274Val) n.200C>G c.681C>G n.1351C>G n.1318C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |