| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.31185061C>T | CA130062 | FUS | c.646C>T (p.Arg216Cys) c.643C>T (p.Arg215Cys) n.711C>T c.634C>T (p.Arg212Cys) n.751C>T c.66C>T (p.Ala22=) c.640C>T (p.Arg214Cys) c.637C>T (p.Arg213Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31185061C>G | CA395669978 | FUS | c.646C>G (p.Arg216Gly) c.643C>G (p.Arg215Gly) n.711C>G c.634C>G (p.Arg212Gly) n.751C>G c.66C>G (p.Ala22=) c.640C>G (p.Arg214Gly) c.637C>G (p.Arg213Gly) | dbSNP |
| 16 | g.31185061C= | CA2216944847 | FUS | c.646C= (p.Arg216=) c.643C= (p.Arg215=) n.711C= c.634C= (p.Arg212=) n.751C= c.66C= (p.Ala22=) c.640C= (p.Arg214=) c.637C= (p.Arg213=) | dbSNP |