Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117530975G>ACA221026CFTRc.350G>A (p.Arg117His)
c.*247G>A (p.=)
n.350G>A (p.Arg117His)
c.107G>A (p.Arg36His)
c.440G>A (p.Arg147His)
ClinVar dbSNP ExAC gnomAD
7g.117530975G>CCA327221CFTRc.350G>C (p.Arg117Pro)
c.*247G>C (p.=)
n.350G>C (p.Arg117Pro)
c.107G>C (p.Arg36Pro)
c.440G>C (p.Arg147Pro)
ClinVar dbSNP
7g.117530975G>TCA327222CFTRc.350G>T (p.Arg117Leu)
c.*247G>T (p.=)
n.350G>T (p.Arg117Leu)
c.107G>T (p.Arg36Leu)
c.440G>T (p.Arg147Leu)
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched