| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68433827C>T | CA6150180 | LRP5 | c.3989C>T (p.Ala1330Val) c.*2595C>T (n.*2595C>T) c.2246C>T (p.Ala749Val) c.4016C>T (p.Ala1339Val) n.4031C>T c.1529C>T (p.Ala510Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68433827C= | CA1980622591 | LRP5 | c.3989C= (p.Ala1330=) c.*2595C= (n.*2595C=) c.2246C= (p.Ala749=) c.4016C= (p.Ala1339=) n.4031C= c.1529C= (p.Ala510=) | dbSNP |