| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68410076C>G | CA118105 | LRP5 | c.2254C>G (p.Arg752Gly) n.48C>G c.*860C>G (n.*860C>G) c.511C>G (p.Arg171Gly) c.2281C>G (p.Arg761Gly) n.2296C>G | ClinVar dbSNP |
| 11 | g.68410076C>T | CA381616607 | LRP5 | c.2254C>T (p.Arg752Trp) n.48C>T c.*860C>T (n.*860C>T) c.511C>T (p.Arg171Trp) c.2281C>T (p.Arg761Trp) n.2296C>T | ClinVar dbSNP gnomAD v4 |