| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.31191052C>T | CA259631 | FUS | c.1483C>T (p.Arg495Ter) c.1480C>T (p.Arg494Ter) n.777C>T n.560C>T n.4658C>T c.*656C>T (n.*656C>T) c.1486C>T (p.Arg496Ter) n.374C>T c.1471C>T (p.Arg491Ter) n.1553C>T c.868C>T (p.Arg290Ter) c.1477C>T (p.Arg493Ter) c.1474C>T (p.Arg492Ter) | ClinVar dbSNP gnomAD v2 |
| 16 | g.31191052C= | CA2216948142 | FUS | c.1483C= (p.Arg495=) c.1480C= (p.Arg494=) n.777C= n.560C= n.4658C= c.*656C= (n.*656C=) c.1486C= (p.Arg496=) n.374C= c.1471C= (p.Arg491=) n.1553C= c.868C= (p.Arg290=) c.1477C= (p.Arg493=) c.1474C= (p.Arg492=) | dbSNP |