| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68448873G>A | CA210911 | LRP5 | c.4651G>A (p.Asp1551Asn) n.242G>A c.321G>A c.*3257G>A (n.*3257G>A) c.2908G>A (p.Asp970Asn) c.4765G>A (p.Asp1589Asn) c.4792G>A (p.Asp1598Asn) c.4678G>A (p.Asp1560Asn) c.*5G>A (n.*5G>A) n.5038G>A n.5054G>A c.3022G>A (p.Asp1008Asn) c.2305G>A (p.Asp769Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68448873G>T | CA381618050 | LRP5 | c.4651G>T (p.Asp1551Tyr) n.242G>T c.321G>T c.*3257G>T (n.*3257G>T) c.2908G>T (p.Asp970Tyr) c.4765G>T (p.Asp1589Tyr) c.4792G>T (p.Asp1598Tyr) c.4678G>T (p.Asp1560Tyr) c.*5G>T (n.*5G>T) n.5038G>T n.5054G>T c.3022G>T (p.Asp1008Tyr) c.2305G>T (p.Asp769Tyr) | dbSNP gnomAD v2 |