| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.7579859G>A | CA16607419 | RBFOX1 | c.293G>A (p.Arg98Gln) c.413G>A (p.Arg138Gln) c.356G>A (p.Arg119Gln) c.359G>A (p.Arg120Gln) c.353G>A (p.Arg118Gln) c.830G>A (p.Arg277Gln) c.428G>A (p.Arg143Gln) n.1073G>A n.1075G>A c.368G>A (p.Arg123Gln) c.482G>A (p.Arg161Gln) c.379-7388G>A (n.379-7388G>A) c.350G>A (p.Arg117Gln) c.458G>A (p.Arg153Gln) c.581G>A (p.Arg194Gln) c.560G>A (p.Arg187Gln) c.527G>A (p.Arg176Gln) c.512G>A (p.Arg171Gln) c.452G>A (p.Arg151Gln) c.929G>A (p.Arg310Gln) c.950G>A (p.Arg317Gln) c.461G>A (p.Arg154Gln) c.911G>A (p.Arg304Gln) | ClinVar dbSNP gnomAD v4 |
| 16 | g.7579859G= | CA2205340259 | RBFOX1 | c.293G= (p.Arg98=) c.413G= (p.Arg138=) c.356G= (p.Arg119=) c.359G= (p.Arg120=) c.353G= (p.Arg118=) c.830G= (p.Arg277=) c.428G= (p.Arg143=) n.1073G= n.1075G= c.368G= (p.Arg123=) c.482G= (p.Arg161=) c.379-7388G= (n.379-7388G=) c.350G= (p.Arg117=) c.458G= (p.Arg153=) c.581G= (p.Arg194=) c.560G= (p.Arg187=) c.527G= (p.Arg176=) c.512G= (p.Arg171=) c.452G= (p.Arg151=) c.929G= (p.Arg310=) c.950G= (p.Arg317=) c.461G= (p.Arg154=) c.911G= (p.Arg304=) | dbSNP |