| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105599C>G | CA10585085 | LDLR | c.951C>G (p.Cys317Trp) c.693C>G (p.Cys231Trp) c.947C>G c.314-1793C>G (n.314-1793C>G) c.570C>G (p.Cys190Trp) c.314-966C>G (n.314-966C>G) c.293C>G n.843C>G n.810C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11105599C>T | CA505484862 | LDLR | c.951C>T (p.Cys317=) c.693C>T (p.Cys231=) c.947C>T c.314-1793C>T (n.314-1793C>T) c.570C>T (p.Cys190=) c.314-966C>T (n.314-966C>T) c.293C>T n.843C>T n.810C>T | dbSNP gnomAD v4 |
| 19 | g.11105599C>A | CA023751 | LDLR | c.951C>A (p.Cys317Ter) c.693C>A (p.Cys231Ter) c.947C>A c.314-1793C>A (n.314-1793C>A) c.570C>A (p.Cys190Ter) c.314-966C>A (n.314-966C>A) c.293C>A n.843C>A n.810C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |