Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68348021A>G | CA201608 | LRP5 | c.266A>G (p.Gln89Arg) c.-1500A>G (n.-1500A>G) c.293A>G (p.Gln98Arg) n.308A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68348021A= | CA1980629915 | LRP5 | c.266A= (p.Gln89=) c.-1500A= (n.-1500A=) c.293A= (p.Gln98=) n.308A= | dbSNP |