| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.31191418C>G | CA257437 | FUS | c.1561C>G (p.Arg521Gly) c.1558C>G (p.Arg520Gly) n.638C>G n.4736C>G c.*734C>G (n.*734C>G) c.1564C>G (p.Arg522Gly) n.452C>G c.1549C>G (p.Arg517Gly) n.1631C>G c.946C>G (p.Arg316Gly) c.1555C>G (p.Arg519Gly) c.1552C>G (p.Arg518Gly) | ClinVar dbSNP |
| 16 | g.31191418C>T | CA257441 | FUS | c.1561C>T (p.Arg521Cys) c.1558C>T (p.Arg520Cys) n.638C>T n.4736C>T c.*734C>T (n.*734C>T) c.1564C>T (p.Arg522Cys) n.452C>T c.1549C>T (p.Arg517Cys) n.1631C>T c.946C>T (p.Arg316Cys) c.1555C>T (p.Arg519Cys) c.1552C>T (p.Arg518Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 16 | g.31191418C>A | CA395677437 | FUS | c.1561C>A (p.Arg521Ser) c.1558C>A (p.Arg520Ser) n.638C>A n.4736C>A c.*734C>A (n.*734C>A) c.1564C>A (p.Arg522Ser) n.452C>A c.1549C>A (p.Arg517Ser) n.1631C>A c.946C>A (p.Arg316Ser) c.1555C>A (p.Arg519Ser) c.1552C>A (p.Arg518Ser) | dbSNP |