| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68425226A>G | CA6149957 | LRP5 | c.3361A>G (p.Asn1121Asp) c.*1967A>G (n.*1967A>G) c.1618A>G (p.Asn540Asp) c.3388A>G (p.Asn1130Asp) n.3403A>G c.901A>G (p.Asn301Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68425226A= | CA1980609946 | LRP5 | c.3361A= (p.Asn1121=) c.*1967A= (n.*1967A=) c.1618A= (p.Asn540=) c.3388A= (p.Asn1130=) n.3403A= c.901A= (p.Asn301=) | dbSNP |