| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.46995558G>A | CA129693 | NBEAL2 | c.1823G>A (p.Trp608Ter) c.1721G>A (p.Trp574Ter) c.238G>A c.1742G>A (p.Trp581Ter) c.1802G>A (p.Trp601Ter) c.1454G>A (p.Trp485Ter) c.1283G>A (p.Trp428Ter) c.1169G>A (p.Trp390Ter) c.731G>A (p.Trp244Ter) n.1999G>A | ClinVar dbSNP |
| 3 | g.46995558G= | CA1362360888 | NBEAL2 | c.1823G= (p.Trp608=) c.1721G= (p.Trp574=) c.238G= c.1742G= (p.Trp581=) c.1802G= (p.Trp601=) c.1454G= (p.Trp485=) c.1283G= (p.Trp428=) c.1169G= (p.Trp390=) c.731G= (p.Trp244=) n.1999G= | dbSNP |