| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68406550G>T | CA6149469 | LRP5 | c.1828G>T (p.Gly610Trp) c.*434G>T (n.*434G>T) c.85G>T (p.Gly29Trp) c.1855G>T (p.Gly619Trp) n.1870G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68406550G>A | CA118109 | LRP5 | c.1828G>A (p.Gly610Arg) c.*434G>A (n.*434G>A) c.85G>A (p.Gly29Arg) c.1855G>A (p.Gly619Arg) n.1870G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68406550G>C | CA6149470 | LRP5 | c.1828G>C (p.Gly610Arg) c.*434G>C (n.*434G>C) c.85G>C (p.Gly29Arg) c.1855G>C (p.Gly619Arg) n.1870G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68406550G= | CA1980654651 | LRP5 | c.1828G= (p.Gly610=) c.*434G= (n.*434G=) c.85G= (p.Gly29=) c.1855G= (p.Gly619=) n.1870G= | dbSNP |