Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117590357G>CCA326607CFTRc.1684G>C (p.Val562Leu)
c.1774G>C (p.Val592Leu)
c.1441G>C (p.Val481Leu)
n.1594G>C (p.Val532Leu)
ClinVar dbSNP ExAC gnomAD
7g.117590357G>ACA240027CFTRc.1684G>A (p.Val562Ile)
c.1774G>A (p.Val592Ile)
c.1441G>A (p.Val481Ile)
n.1594G>A (p.Val532Ile)
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched