| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105425C>G | CA10584968 | LDLR | c.777C>G (p.Cys259Trp) c.519C>G (p.Cys173Trp) c.773C>G c.314-1967C>G (n.314-1967C>G) c.396C>G (p.Cys132Trp) c.314-1140C>G (n.314-1140C>G) c.119C>G n.669C>G n.636C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11105425C>A | CA10584967 | LDLR | c.777C>A (p.Cys259Ter) c.519C>A (p.Cys173Ter) c.773C>A c.314-1967C>A (n.314-1967C>A) c.396C>A (p.Cys132Ter) c.314-1140C>A (n.314-1140C>A) c.119C>A n.669C>A n.636C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11105425C>T | CA043809 | LDLR | c.777C>T (p.Cys259=) c.519C>T (p.Cys173=) c.773C>T c.314-1967C>T (n.314-1967C>T) c.396C>T (p.Cys132=) c.314-1140C>T (n.314-1140C>T) c.119C>T n.669C>T n.636C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |