Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60822027C>TCA223282CHD7c.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
8g.60822027C>ACA4759846CHD7c.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

Number of alleles fetched