Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.60841719A>CCA371318727CHD7c.4609A>C (p.Lys1537Gln)
c.1717-20510A>C (n.1717-20510A>C)
c.2596A>C (p.Lys866Gln)
c.2146A>C (p.Lys716Gln)
c.1354A>C (p.Lys452Gln)
dbSNP gnomAD v2 gnomAD v4
8g.60841719A>TCA16605402CHD7c.4609A>T (p.Lys1537Ter)
c.1717-20510A>T (n.1717-20510A>T)
c.2596A>T (p.Lys866Ter)
c.2146A>T (p.Lys716Ter)
c.1354A>T (p.Lys452Ter)
ClinVar dbSNP

Number of alleles fetched