Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117587833G>CCA340633CFTRc.1679G>C (p.Arg560Thr)
c.1769G>C (p.Arg590Thr)
c.1436G>C (p.Arg479Thr)
n.1589G>C (p.Arg530Thr)
ClinVar dbSNP ExAC gnomAD
7g.117587833G>ACA325552CFTRc.1679G>A (p.Arg560Lys)
c.1769G>A (p.Arg590Lys)
c.1436G>A (p.Arg479Lys)
n.1589G>A (p.Arg530Lys)
ClinVar dbSNP

Number of alleles fetched