| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.56931087G>A | CA2932435 | REST | c.2229G>A (p.Glu743=) c.*1256G>A (n.*1256G>A) c.*79-981G>A (n.*79-981G>A) c.2145G>A (p.Glu715=) c.898+19551G>A (n.898+19551G>A) c.982+11217G>A (n.982+11217G>A) c.1782G>A (p.Glu594=) c.587-707G>A (n.587-707G>A) c.1263G>A (p.Glu421=) c.1251G>A (p.Glu417=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.56931087G= | CA1459770326 | REST | c.2229G= (p.Glu743=) c.*1256G= (n.*1256G=) c.*79-981G= (n.*79-981G=) c.2145G= (p.Glu715=) c.898+19551G= (n.898+19551G=) c.982+11217G= (n.982+11217G=) c.1782G= (p.Glu594=) c.587-707G= (n.587-707G=) c.1263G= (p.Glu421=) c.1251G= (p.Glu417=) | dbSNP |
| 4 | g.56931087G>T | CA357008355 | REST | c.2229G>T (p.Glu743Asp) c.*1256G>T (n.*1256G>T) c.*79-981G>T (n.*79-981G>T) c.2145G>T (p.Glu715Asp) c.898+19551G>T (n.898+19551G>T) c.982+11217G>T (n.982+11217G>T) c.1782G>T (p.Glu594Asp) c.587-707G>T (n.587-707G>T) c.1263G>T (p.Glu421Asp) c.1251G>T (p.Glu417Asp) | ClinVar dbSNP |