Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.31657231T>C | CA3717972 | APOM,BAG6 | c.276T>C (p.Asp92=) c.60T>C (p.Asp20=) n.311T>C c.180T>C (p.Asp60=) c.-14+3090A>G (n.-14+3090A>G) c.-14+533A>G (n.-14+533A>G) n.317T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31657231T>G | CA363426830 | APOM,BAG6 | c.276T>G (p.Asp92Glu) c.60T>G (p.Asp20Glu) n.311T>G c.180T>G (p.Asp60Glu) c.-14+3090A>C (n.-14+3090A>C) c.-14+533A>C (n.-14+533A>C) n.317T>G | dbSNP |