Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117587808C>TCA325585CFTRc.1654C>T (p.Gln552Ter)
c.*1368C>T (n.*1368C>T)
c.1471C>T (p.Gln491Ter)
c.*1478C>T (n.*1478C>T)
c.1228C>T (p.Gln410Ter)
c.1402-15018C>T (n.1402-15018C>T)
c.1564C>T (p.Gln522Ter)
c.1744C>T (p.Gln582Ter)
c.1411C>T (p.Gln471Ter)
ClinVar dbSNP
7g.117587808C>ACA368976108CFTRc.1654C>A (p.Gln552Lys)
c.*1368C>A (n.*1368C>A)
c.1471C>A (p.Gln491Lys)
c.*1478C>A (n.*1478C>A)
c.1228C>A (p.Gln410Lys)
c.1402-15018C>A (n.1402-15018C>A)
c.1564C>A (p.Gln522Lys)
c.1744C>A (p.Gln582Lys)
c.1411C>A (p.Gln471Lys)
ClinVar dbSNP gnomAD v4

Number of alleles fetched