Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.119676794G>A | CA175310 | BAG3 | c.1240G>A (p.Glu414Lys) c.1237G>A (p.Glu413Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.119676794G>T | CA16613029 | BAG3 | c.1240G>T (p.Glu414Ter) c.1237G>T (p.Glu413Ter) | ClinVar dbSNP |
10 | g.119676794G= | CA1940196700 | BAG3 | c.1240G= (p.Glu414=) c.1237G= (p.Glu413=) | dbSNP |