| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68348235dup | CA939124067 | LRP5 | c.480dup (p.Ala161ArgfsTer12) c.-1286dup (n.-1286dup) c.507dup (p.Ala170ArgfsTer12) n.522dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.68348235del | CA16043763 | LRP5 | c.480del (p.Ala161LeufsTer?) c.-1286del (n.-1286del) c.507del (p.Ala170LeufsTer?) n.522del | ClinVar dbSNP |
| 11 | g.68348234_68348235dup | CA2614710912 | LRP5 | c.479_480dup (p.Ala161ProfsTer?) c.-1287_-1286dup (n.-1287_-1286dup) c.506_507dup (p.Ala170ProfsTer?) n.521_522dup | dbSNP gnomAD v4 |