| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68403502C>T | CA6149386 | LRP5 | c.1604C>T (p.Thr535Met) c.*16C>T (n.*16C>T) c.-334C>T (n.-334C>T) c.1631C>T (p.Thr544Met) n.1646C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68403502C= | CA1980651509 | LRP5 | c.1604C= (p.Thr535=) c.*16C= (n.*16C=) c.-334C= (n.-334C=) c.1631C= (p.Thr544=) n.1646C= | dbSNP |