| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.31191427A>T | CA257447 | FUS | c.1570A>T (p.Arg524Trp) c.1567A>T (p.Arg523Trp) n.647A>T n.4745A>T c.*743A>T (n.*743A>T) c.1573A>T (p.Arg525Trp) n.461A>T c.1558A>T (p.Arg520Trp) n.1640A>T c.955A>T (p.Arg319Trp) c.1564A>T (p.Arg522Trp) c.1561A>T (p.Arg521Trp) | ClinVar dbSNP gnomAD v2 |
| 16 | g.31191427A= | CA2216948383 | FUS | c.1570A= (p.Arg524=) c.1567A= (p.Arg523=) n.647A= n.4745A= c.*743A= (n.*743A=) c.1573A= (p.Arg525=) n.461A= c.1558A= (p.Arg520=) n.1640A= c.955A= (p.Arg319=) c.1564A= (p.Arg522=) c.1561A= (p.Arg521=) | dbSNP |