Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117530974C>GCA327217CFTRc.349C>G (p.Arg117Gly)
c.*246C>G (n.*246C>G)
c.*173C>G (n.*173C>G)
c.106C>G (p.Arg36Gly)
c.439C>G (p.Arg147Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117530974C>TCA328115CFTRc.349C>T (p.Arg117Cys)
c.*246C>T (n.*246C>T)
c.*173C>T (n.*173C>T)
c.106C>T (p.Arg36Cys)
c.439C>T (p.Arg147Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117530974C>ACA4450711CFTRc.349C>A (p.Arg117Ser)
c.*246C>A (n.*246C>A)
c.*173C>A (n.*173C>A)
c.106C>A (p.Arg36Ser)
c.439C>A (p.Arg147Ser)
dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched