| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105335C>A | CA043532 | LDLR | c.687C>A (p.Cys229Ter) c.429C>A (p.Cys143Ter) c.683C>A c.314-2057C>A (n.314-2057C>A) c.306C>A (p.Cys102Ter) c.314-1230C>A (n.314-1230C>A) c.29C>A n.579C>A n.546C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11105335C= | CA2322767377 | LDLR | c.687C= (p.Cys229=) c.429C= (p.Cys143=) c.683C= c.314-2057C= (n.314-2057C=) c.306C= (p.Cys102=) c.314-1230C= (n.314-1230C=) c.29C= n.579C= n.546C= | dbSNP |
| 19 | g.11105335C>T | CA505743063 | LDLR | c.687C>T (p.Cys229=) c.429C>T (p.Cys143=) c.683C>T c.314-2057C>T (n.314-2057C>T) c.306C>T (p.Cys102=) c.314-1230C>T (n.314-1230C>T) c.29C>T n.579C>T n.546C>T | dbSNP gnomAD v4 |