Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.60822027C>T | CA223282 | CHD7 | c.2839C>T (p.Arg947Ter) c.1717-40202C>T (n.1717-40202C>T) c.826C>T (p.Arg276Ter) c.376C>T (p.Arg126Ter) | ClinVar dbSNP COSMIC |
8 | g.60822027C>A | CA4759846 | CHD7 | c.2839C>A (p.Arg947=) c.1717-40202C>A (n.1717-40202C>A) c.826C>A (p.Arg276=) c.376C>A (p.Arg126=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |