| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.46999363C>T | CA10602906 | NBEAL2 | c.3592C>T (p.Gln1198Ter) c.3490C>T (p.Gln1164Ter) c.1848C>T c.64C>T (p.Gln22Ter) c.3511C>T (p.Gln1171Ter) c.3571C>T (p.Gln1191Ter) c.3223C>T (p.Gln1075Ter) c.3052C>T (p.Gln1018Ter) c.2938C>T (p.Gln980Ter) c.2500C>T (p.Gln834Ter) n.3768C>T | ClinVar dbSNP |
| 3 | g.46999363C= | CA1362362660 | NBEAL2 | c.3592C= (p.Gln1198=) c.3490C= (p.Gln1164=) c.1848C= c.64C= (p.Gln22=) c.3511C= (p.Gln1171=) c.3571C= (p.Gln1191=) c.3223C= (p.Gln1075=) c.3052C= (p.Gln1018=) c.2938C= (p.Gln980=) c.2500C= (p.Gln834=) n.3768C= | dbSNP |