| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.31191407A>G | CA395677337 | FUS | c.1550A>G (p.His517Arg) c.1547A>G (p.His516Arg) n.627A>G n.4725A>G c.*723A>G (n.*723A>G) c.1553A>G (p.His518Arg) n.441A>G c.1538A>G (p.His513Arg) n.1620A>G c.935A>G (p.His312Arg) c.1544A>G (p.His515Arg) c.1541A>G (p.His514Arg) | ClinVar dbSNP |
| 16 | g.31191407A>C | CA395677331 | FUS | c.1550A>C (p.His517Pro) c.1547A>C (p.His516Pro) n.627A>C n.4725A>C c.*723A>C (n.*723A>C) c.1553A>C (p.His518Pro) n.441A>C c.1538A>C (p.His513Pro) n.1620A>C c.935A>C (p.His312Pro) c.1544A>C (p.His515Pro) c.1541A>C (p.His514Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.31191407A= | CA2216948371 | FUS | c.1550A= (p.His517=) c.1547A= (p.His516=) n.627A= n.4725A= c.*723A= (n.*723A=) c.1553A= (p.His518=) n.441A= c.1538A= (p.His513=) n.1620A= c.935A= (p.His312=) c.1544A= (p.His515=) c.1541A= (p.His514=) | dbSNP |