| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68426112C>T | CA210907 | LRP5 | c.3562C>T (p.Arg1188Trp) c.*2168C>T (n.*2168C>T) c.1819C>T (p.Arg607Trp) c.3589C>T (p.Arg1197Trp) n.3604C>T c.1102C>T (p.Arg368Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68426112C>G | CA6150031 | LRP5 | c.3562C>G (p.Arg1188Gly) c.*2168C>G (n.*2168C>G) c.1819C>G (p.Arg607Gly) c.3589C>G (p.Arg1197Gly) n.3604C>G c.1102C>G (p.Arg368Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68426112C= | CA1980610927 | LRP5 | c.3562C= (p.Arg1188=) c.*2168C= (n.*2168C=) c.1819C= (p.Arg607=) c.3589C= (p.Arg1197=) n.3604C= c.1102C= (p.Arg368=) | dbSNP |