Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117534363G>ACA327578CFTRc.577G>A (p.Glu193Lys)
c.667G>A (p.Glu223Lys)
c.334G>A (p.Glu112Lys)
n.490-885G>A (p.=)
ClinVar dbSNP gnomAD COSMIC
7g.117534363G>TCA221033CFTRc.577G>T (p.Glu193Ter)
c.667G>T (p.Glu223Ter)
c.334G>T (p.Glu112Ter)
n.490-885G>T (p.=)
ClinVar dbSNP

Number of alleles fetched