| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.46997310C>T | CA129681 | NBEAL2 | c.2701C>T (p.Arg901Ter) c.2599C>T (p.Arg867Ter) n.270C>T c.1116C>T c.2620C>T (p.Arg874Ter) c.2680C>T (p.Arg894Ter) c.2332C>T (p.Arg778Ter) c.2161C>T (p.Arg721Ter) c.2047C>T (p.Arg683Ter) c.1609C>T (p.Arg537Ter) n.2877C>T | ClinVar dbSNP |
| 3 | g.46997310C= | CA1362361670 | NBEAL2 | c.2701C= (p.Arg901=) c.2599C= (p.Arg867=) n.270C= c.1116C= c.2620C= (p.Arg874=) c.2680C= (p.Arg894=) c.2332C= (p.Arg778=) c.2161C= (p.Arg721=) c.2047C= (p.Arg683=) c.1609C= (p.Arg537=) n.2877C= | dbSNP |