| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68410042C>T | CA200700 | LRP5 | c.2220C>T (p.Asn740=) n.14C>T c.*826C>T (n.*826C>T) c.477C>T (p.Asn159=) c.2247C>T (p.Asn749=) n.2262C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68410042C= | CA1980594682 | LRP5 | c.2220C= (p.Asn740=) n.14C= c.*826C= (n.*826C=) c.477C= (p.Asn159=) c.2247C= (p.Asn749=) n.2262C= | dbSNP |