| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.31191408C>G | CA126283 | FUS | c.1551C>G (p.His517Gln) c.1548C>G (p.His516Gln) n.628C>G n.4726C>G c.*724C>G (n.*724C>G) c.1554C>G (p.His518Gln) n.442C>G c.1539C>G (p.His513Gln) n.1621C>G c.936C>G (p.His312Gln) c.1545C>G (p.His515Gln) c.1542C>G (p.His514Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.31191408C>T | CA494715338 | FUS | c.1551C>T (p.His517=) c.1548C>T (p.His516=) n.628C>T n.4726C>T c.*724C>T (n.*724C>T) c.1554C>T (p.His518=) n.442C>T c.1539C>T (p.His513=) n.1621C>T c.936C>T (p.His312=) c.1545C>T (p.His515=) c.1542C>T (p.His514=) | dbSNP gnomAD v3 gnomAD v4 |