Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.119672477C>T | CA10576778 | BAG3 | c.730C>T (p.Gln244Ter) c.556C>T (p.Gln186Ter) | ClinVar dbSNP |
10 | g.119672477C>G | CA378295681 | BAG3 | c.730C>G (p.Gln244Glu) c.556C>G (p.Gln186Glu) | ClinVar dbSNP gnomAD v4 |
10 | g.119672477C= | CA1940193416 | BAG3 | c.730C= (p.Gln244=) c.556C= (p.Gln186=) | dbSNP |