| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68357846C>T | CA235841 | LRP5 | c.685C>T (p.Arg229Trp) c.-1081C>T (n.-1081C>T) c.712C>T (p.Arg238Trp) n.727C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68357846C>A | CA475460222 | LRP5 | c.685C>A (p.Arg229=) c.-1081C>A (n.-1081C>A) c.712C>A (p.Arg238=) n.727C>A | dbSNP gnomAD v4 |
| 11 | g.68357846C= | CA1980639910 | LRP5 | c.685C= (p.Arg229=) c.-1081C= (n.-1081C=) c.712C= (p.Arg238=) n.727C= | dbSNP |