Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117509047G>ACA326672CFTRc.178G>A (p.Glu60Lys)
c.268G>A (p.Glu90Lys)
c.-66G>A (p.=)
n.178G>A (p.Glu60Lys)
ClinVar dbSNP
7g.117509047G>TCA328091CFTRc.178G>T (p.Glu60Ter)
c.268G>T (p.Glu90Ter)
c.-66G>T (p.=)
n.178G>T (p.Glu60Ter)
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched