| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68448822C>T | CA130819 | LRP5 | c.4600C>T (p.Arg1534Ter) n.191C>T c.270C>T c.*3206C>T (n.*3206C>T) c.2857C>T (p.Arg953Ter) c.4714C>T (p.Arg1572Ter) c.4741C>T (p.Arg1581Ter) c.4627C>T (p.Arg1543Ter) c.4757C>T (p.Ser1586Leu) n.4987C>T n.5003C>T c.2971C>T (p.Arg991Ter) c.2254C>T (p.Arg752Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68448822C>G | CA6150460 | LRP5 | c.4600C>G (p.Arg1534Gly) n.191C>G c.270C>G c.*3206C>G (n.*3206C>G) c.2857C>G (p.Arg953Gly) c.4714C>G (p.Arg1572Gly) c.4741C>G (p.Arg1581Gly) c.4627C>G (p.Arg1543Gly) c.4757C>G (p.Ser1586Trp) n.4987C>G n.5003C>G c.2971C>G (p.Arg991Gly) c.2254C>G (p.Arg752Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68448822C= | CA1980666838 | LRP5 | c.4600C= (p.Arg1534=) n.191C= c.270C= c.*3206C= (n.*3206C=) c.2857C= (p.Arg953=) c.4714C= (p.Arg1572=) c.4741C= (p.Arg1581=) c.4627C= (p.Arg1543=) c.4757C= (p.Ser1586=) n.4987C= n.5003C= c.2971C= (p.Arg991=) c.2254C= (p.Arg752=) | dbSNP |