| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.56930934G>T | CA2932401 | REST | c.2076G>T (p.Glu692Asp) c.*1103G>T (n.*1103G>T) c.*79-1134G>T (n.*79-1134G>T) c.1992G>T (p.Glu664Asp) c.898+19398G>T (n.898+19398G>T) c.982+11064G>T (n.982+11064G>T) c.1629G>T (p.Glu543Asp) c.587-860G>T (n.587-860G>T) c.1110G>T (p.Glu370Asp) c.1098G>T (p.Glu366Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.56930934G= | CA1459760929 | REST | c.2076G= (p.Glu692=) c.*1103G= (n.*1103G=) c.*79-1134G= (n.*79-1134G=) c.1992G= (p.Glu664=) c.898+19398G= (n.898+19398G=) c.982+11064G= (n.982+11064G=) c.1629G= (p.Glu543=) c.587-860G= (n.587-860G=) c.1110G= (p.Glu370=) c.1098G= (p.Glu366=) | dbSNP |