Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68403553C>T | CA130814 | LRP5 | c.1655C>T (p.Thr552Met) c.*67C>T (n.*67C>T) c.-283C>T (n.-283C>T) c.1682C>T (p.Thr561Met) n.1697C>T | ClinVar dbSNP gnomAD v4 |
11 | g.68403553C= | CA1980651601 | LRP5 | c.1655C= (p.Thr552=) c.*67C= (n.*67C=) c.-283C= (n.-283C=) c.1682C= (p.Thr561=) n.1697C= | dbSNP |