| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105429G>A | CA023713 | LDLR | c.781G>A (p.Asp261Asn) c.523G>A (p.Asp175Asn) c.777G>A c.314-1963G>A (n.314-1963G>A) c.400G>A (p.Asp134Asn) c.314-1136G>A (n.314-1136G>A) c.123G>A n.673G>A n.640G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.11105429G>T | CA10584969 | LDLR | c.781G>T (p.Asp261Tyr) c.523G>T (p.Asp175Tyr) c.777G>T c.314-1963G>T (n.314-1963G>T) c.400G>T (p.Asp134Tyr) c.314-1136G>T (n.314-1136G>T) c.123G>T n.673G>T n.640G>T | ClinVar dbSNP |
| 19 | g.11105429G= | CA2322767460 | LDLR | c.781G= (p.Asp261=) c.523G= (p.Asp175=) c.777G= c.314-1963G= (n.314-1963G=) c.400G= (p.Asp134=) c.314-1136G= (n.314-1136G=) c.123G= n.673G= n.640G= | dbSNP |