| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68357679C>T | CA6149038 | LRP5 | c.518C>T (p.Thr173Met) c.-1248C>T (n.-1248C>T) c.545C>T (p.Thr182Met) n.560C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68357679C= | CA1980639679 | LRP5 | c.518C= (p.Thr173=) c.-1248C= (n.-1248C=) c.545C= (p.Thr182=) n.560C= | dbSNP |