| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68433642del | CA224250766 | LRP5 | c.3804del (p.Glu1270ArgfsTer?) c.*2410del (n.*2410del) c.2061del (p.Glu689ArgfsTer?) c.3831del (p.Glu1279ArgfsTer?) n.3846del c.1344del (p.Glu450ArgfsTer?) | ClinVar dbSNP |
| 11 | g.68433642A= | CA1980622017 | LRP5 | c.3804A= (p.Thr1268=) c.*2410A= (n.*2410A=) c.2061A= (p.Thr687=) c.3831A= (p.Thr1277=) n.3846A= c.1344A= (p.Thr448=) | dbSNP dbSNP |