| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68436987G>A | CA118106 | LRP5 | c.4099G>A (p.Glu1367Lys) c.*2705G>A (n.*2705G>A) c.2356G>A (p.Glu786Lys) c.4126G>A (p.Glu1376Lys) n.4141G>A c.1639G>A (p.Glu547Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.68436987G= | CA1980617511 | LRP5 | c.4099G= (p.Glu1367=) c.*2705G= (n.*2705G=) c.2356G= (p.Glu786=) c.4126G= (p.Glu1376=) n.4141G= c.1639G= (p.Glu547=) | dbSNP |