| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.46995743A>T | CA129689 | NBEAL2 | c.1928A>T (p.Glu643Val) c.1826A>T (p.Glu609Val) c.343A>T c.1847A>T (p.Glu616Val) c.1907A>T (p.Glu636Val) c.1559A>T (p.Glu520Val) c.1388A>T (p.Glu463Val) c.1274A>T (p.Glu425Val) c.836A>T (p.Glu279Val) n.2104A>T | ClinVar dbSNP |
| 3 | g.46995743A= | CA1362360987 | NBEAL2 | c.1928A= (p.Glu643=) c.1826A= (p.Glu609=) c.343A= c.1847A= (p.Glu616=) c.1907A= (p.Glu636=) c.1559A= (p.Glu520=) c.1388A= (p.Glu463=) c.1274A= (p.Glu425=) c.836A= (p.Glu279=) n.2104A= | dbSNP |