| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68436969T>G | CA6150225 | LRP5 | c.4081T>G (p.Cys1361Gly) c.*2687T>G (n.*2687T>G) c.2338T>G (p.Cys780Gly) c.4108T>G (p.Cys1370Gly) n.4123T>G c.1621T>G (p.Cys541Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68436969T= | CA1980617409 | LRP5 | c.4081T= (p.Cys1361=) c.*2687T= (n.*2687T=) c.2338T= (p.Cys780=) c.4108T= (p.Cys1370=) n.4123T= c.1621T= (p.Cys541=) | dbSNP |