Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.119676899A>T | CA16612754 | BAG3 | c.1345A>T (p.Lys449Ter) c.1342A>T (p.Lys448Ter) | ClinVar dbSNP |
10 | g.119676899A>G | CA378297120 | BAG3 | c.1345A>G (p.Lys449Glu) c.1342A>G (p.Lys448Glu) | dbSNP gnomAD v2 gnomAD v4 |