| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.31191429G>A | CA494715381 | FUS | c.1572G>A (p.Arg524=) c.1569G>A (p.Arg523=) n.649G>A n.4747G>A c.*745G>A (n.*745G>A) c.1575G>A (p.Arg525=) n.463G>A c.1560G>A (p.Arg520=) n.1642G>A c.957G>A (p.Arg319=) c.1566G>A (p.Arg522=) c.1563G>A (p.Arg521=) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.31191429G>C | CA10603322 | FUS | c.1572G>C (p.Arg524Ser) c.1569G>C (p.Arg523Ser) n.649G>C n.4747G>C c.*745G>C (n.*745G>C) c.1575G>C (p.Arg525Ser) n.463G>C c.1560G>C (p.Arg520Ser) n.1642G>C c.957G>C (p.Arg319Ser) c.1566G>C (p.Arg522Ser) c.1563G>C (p.Arg521Ser) | ClinVar dbSNP |