| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11105588G>A | CA023749 | LDLR | c.940G>A (p.Glu314Lys) c.682G>A (p.Glu228Lys) c.936G>A c.314-1804G>A (n.314-1804G>A) c.559G>A (p.Glu187Lys) c.314-977G>A (n.314-977G>A) c.282G>A n.832G>A n.799G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.11105588G>T | CA044327 | LDLR | c.940G>T (p.Glu314Ter) c.682G>T (p.Glu228Ter) c.936G>T c.314-1804G>T (n.314-1804G>T) c.559G>T (p.Glu187Ter) c.314-977G>T (n.314-977G>T) c.282G>T n.832G>T n.799G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11105588G>C | CA044313 | LDLR | c.940G>C (p.Glu314Gln) c.682G>C (p.Glu228Gln) c.936G>C c.314-1804G>C (n.314-1804G>C) c.559G>C (p.Glu187Gln) c.314-977G>C (n.314-977G>C) c.282G>C n.832G>C n.799G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11105588G= | CA2322767635 | LDLR | c.940G= (p.Glu314=) c.682G= (p.Glu228=) c.936G= c.314-1804G= (n.314-1804G=) c.559G= (p.Glu187=) c.314-977G= (n.314-977G=) c.282G= n.832G= n.799G= | dbSNP dbSNP dbSNP |