| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105527C>G | CA10585017 | LDLR | c.879C>G (p.Gly293=) c.621C>G (p.Gly207=) c.875C>G c.314-1865C>G (n.314-1865C>G) c.498C>G (p.Gly166=) c.314-1038C>G (n.314-1038C>G) c.221C>G n.771C>G n.738C>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.11105527C>A | CA505743468 | LDLR | c.879C>A (p.Gly293=) c.621C>A (p.Gly207=) c.875C>A c.314-1865C>A (n.314-1865C>A) c.498C>A (p.Gly166=) c.314-1038C>A (n.314-1038C>A) c.221C>A n.771C>A n.738C>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11105527C>T | CA023732 | LDLR | c.879C>T (p.Gly293=) c.621C>T (p.Gly207=) c.875C>T c.314-1865C>T (n.314-1865C>T) c.498C>T (p.Gly166=) c.314-1038C>T (n.314-1038C>T) c.221C>T n.771C>T n.738C>T | ClinVar dbSNP gnomAD v4 |