| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105587C>T | CA044301 | LDLR | c.939C>T (p.Asp313=) c.681C>T (p.Asp227=) c.935C>T c.314-1805C>T (n.314-1805C>T) c.558C>T (p.Asp186=) c.314-978C>T (n.314-978C>T) c.281C>T n.831C>T n.798C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11105587C>G | CA023747 | LDLR | c.939C>G (p.Asp313Glu) c.681C>G (p.Asp227Glu) c.935C>G c.314-1805C>G (n.314-1805C>G) c.558C>G (p.Asp186Glu) c.314-978C>G (n.314-978C>G) c.281C>G n.831C>G n.798C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.11105587C>A | CA16609806 | LDLR | c.939C>A (p.Asp313Glu) c.681C>A (p.Asp227Glu) c.935C>A c.314-1805C>A (n.314-1805C>A) c.558C>A (p.Asp186Glu) c.314-978C>A (n.314-978C>A) c.281C>A n.831C>A n.798C>A | ClinVar dbSNP |