| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.56931248C>T | CA2932473 | REST | c.2390C>T (p.Pro797Leu) c.*1417C>T (n.*1417C>T) c.*79-820C>T (n.*79-820C>T) c.2306C>T (p.Pro769Leu) c.898+19712C>T (n.898+19712C>T) c.982+11378C>T (n.982+11378C>T) c.1943C>T (p.Pro648Leu) c.587-546C>T (n.587-546C>T) c.1424C>T (p.Pro475Leu) c.1412C>T (p.Pro471Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.56931248C= | CA1459770527 | REST | c.2390C= (p.Pro797=) c.*1417C= (n.*1417C=) c.*79-820C= (n.*79-820C=) c.2306C= (p.Pro769=) c.898+19712C= (n.898+19712C=) c.982+11378C= (n.982+11378C=) c.1943C= (p.Pro648=) c.587-546C= (n.587-546C=) c.1424C= (p.Pro475=) c.1412C= (p.Pro471=) | dbSNP |