| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68406721G>C | CA224268372 | LRP5 | c.1999G>C (p.Val667Leu) c.*605G>C (n.*605G>C) c.256G>C (p.Val86Leu) c.2026G>C (p.Val676Leu) n.2041G>C | dbSNP |
| 11 | g.68406721G>A | CA213422 | LRP5 | c.1999G>A (p.Val667Met) c.*605G>A (n.*605G>A) c.256G>A (p.Val86Met) c.2026G>A (p.Val676Met) n.2041G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68406721G= | CA1980654723 | LRP5 | c.1999G= (p.Val667=) c.*605G= (n.*605G=) c.256G= (p.Val86=) c.2026G= (p.Val676=) n.2041G= | dbSNP |