| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.3872554T>C | CA8295434 | CAMKK1 | c.1124A>G (p.Glu375Gly) c.1238A>G (p.Glu413Gly) c.1205A>G (p.Glu402Gly) c.410A>G (p.Glu137Gly) c.1319A>G (p.Glu440Gly) c.545A>G (p.Glu182Gly) n.1414A>G n.2974A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.3872554T= | CA2244072178 | CAMKK1 | c.1124A= (p.Glu375=) c.1238A= (p.Glu413=) c.1205A= (p.Glu402=) c.410A= (p.Glu137=) c.1319A= (p.Glu440=) c.545A= (p.Glu182=) n.1414A= n.2974A= | dbSNP |