| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68357673G>T | CA118095 | LRP5 | c.512G>T (p.Gly171Val) c.-1254G>T (n.-1254G>T) c.539G>T (p.Gly180Val) n.554G>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.68357673G= | CA1980639662 | LRP5 | c.512G= (p.Gly171=) c.-1254G= (n.-1254G=) c.539G= (p.Gly180=) n.554G= | dbSNP |
| 11 | g.68357673G>A | CA381611684 | LRP5 | c.512G>A (p.Gly171Asp) c.-1254G>A (n.-1254G>A) c.539G>A (p.Gly180Asp) n.554G>A | dbSNP gnomAD v4 |
| 11 | g.68357673G>C | CA381611683 | LRP5 | c.512G>C (p.Gly171Ala) c.-1254G>C (n.-1254G>C) c.539G>C (p.Gly180Ala) n.554G>C | ClinVar dbSNP |