| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68448809G>A | CA224260653 | LRP5 | c.4587G>A (p.Arg1529=) n.178G>A c.257G>A c.*3193G>A (n.*3193G>A) c.2844G>A (p.Arg948=) c.4701G>A (p.Arg1567=) c.4728G>A (p.Arg1576=) c.4614G>A (p.Arg1538=) c.4744G>A (p.Ala1582Thr) n.4974G>A n.4990G>A c.2958G>A (p.Arg986=) c.2241G>A (p.Arg747=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68448809G>C | CA210909 | LRP5 | c.4587G>C (p.Arg1529Ser) n.178G>C c.257G>C c.*3193G>C (n.*3193G>C) c.2844G>C (p.Arg948Ser) c.4701G>C (p.Arg1567Ser) c.4728G>C (p.Arg1576Ser) c.4614G>C (p.Arg1538Ser) c.4744G>C (p.Ala1582Pro) n.4974G>C n.4990G>C c.2958G>C (p.Arg986Ser) c.2241G>C (p.Arg747Ser) | ClinVar dbSNP |