| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.31185175A>G | CA8023782 | FUS | c.760A>G (p.Met254Val) c.757A>G (p.Met253Val) n.825A>G n.96A>G c.748A>G (p.Met250Val) n.865A>G c.180A>G (p.Ala60=) c.754A>G (p.Met252Val) c.751A>G (p.Met251Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.31185175A= | CA2216944928 | FUS | c.760A= (p.Met254=) c.757A= (p.Met253=) n.825A= n.96A= c.748A= (p.Met250=) n.865A= c.180A= (p.Ala60=) c.754A= (p.Met252=) c.751A= (p.Met251=) | dbSNP |