| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105321G>A | CA10584907 | LDLR | c.673G>A (p.Asp225Asn) c.415G>A (p.Asp139Asn) c.669G>A c.314-2071G>A (n.314-2071G>A) c.292G>A (p.Asp98Asn) c.314-1244G>A (n.314-1244G>A) c.15G>A n.565G>A n.532G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.11105321G>C | CA10584908 | LDLR | c.673G>C (p.Asp225His) c.415G>C (p.Asp139His) c.669G>C c.314-2071G>C (n.314-2071G>C) c.292G>C (p.Asp98His) c.314-1244G>C (n.314-1244G>C) c.15G>C n.565G>C n.532G>C | ClinVar dbSNP COSMIC |