| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11100286G>A | CA023452 | LDLR | c.389G>A (p.Trp130Ter) c.131G>A (p.Trp44Ter) c.385G>A n.217G>A n.281G>A n.248G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11100286G>T | CA404074813 | LDLR | c.389G>T (p.Trp130Leu) c.131G>T (p.Trp44Leu) c.385G>T n.217G>T n.281G>T n.248G>T | ClinVar dbSNP |
| 19 | g.11100286G= | CA2322764733 | LDLR | c.389G= (p.Trp130=) c.131G= (p.Trp44=) c.385G= n.217G= n.281G= n.248G= | dbSNP |