| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.47004976C>T | CA129691 | NBEAL2 | c.6299C>T (p.Pro2100Leu) c.6197C>T (p.Pro2066Leu) c.4162C>T c.319-205C>T (n.319-205C>T) c.1404C>T n.358C>T c.2771C>T (p.Pro924Leu) c.6218C>T (p.Pro2073Leu) c.6278C>T (p.Pro2093Leu) c.5930C>T (p.Pro1977Leu) c.5759C>T (p.Pro1920Leu) c.5645C>T (p.Pro1882Leu) c.5207C>T (p.Pro1736Leu) n.6475C>T | ClinVar dbSNP |
| 3 | g.47004976C= | CA1362365285 | NBEAL2 | c.6299C= (p.Pro2100=) c.6197C= (p.Pro2066=) c.4162C= c.319-205C= (n.319-205C=) c.1404C= n.358C= c.2771C= (p.Pro924=) c.6218C= (p.Pro2073=) c.6278C= (p.Pro2093=) c.5930C= (p.Pro1977=) c.5759C= (p.Pro1920=) c.5645C= (p.Pro1882=) c.5207C= (p.Pro1736=) n.6475C= | dbSNP |