Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117611735G>CCA327132CFTRc.3294G>C (p.Trp1098Cys)
c.*3008G>C (n.*3008G>C)
c.3111G>C (p.Trp1037Cys)
c.*1594G>C (n.*1594G>C)
c.*3118G>C (n.*3118G>C)
c.2868G>C (p.Trp956Cys)
c.42G>C (p.Trp14Cys)
c.885G>C (p.Trp295Cys)
c.944G>C
c.2076G>C (p.Trp692Cys)
c.3204G>C (p.Trp1068Cys)
c.119G>C
c.3384G>C (p.Trp1128Cys)
c.3051G>C (p.Trp1017Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117611735G>TCA368992416CFTRc.3294G>T (p.Trp1098Cys)
c.*3008G>T (n.*3008G>T)
c.3111G>T (p.Trp1037Cys)
c.*1594G>T (n.*1594G>T)
c.*3118G>T (n.*3118G>T)
c.2868G>T (p.Trp956Cys)
c.42G>T (p.Trp14Cys)
c.885G>T (p.Trp295Cys)
c.944G>T
c.2076G>T (p.Trp692Cys)
c.3204G>T (p.Trp1068Cys)
c.119G>T
c.3384G>T (p.Trp1128Cys)
c.3051G>T (p.Trp1017Cys)
ClinVar dbSNP
7g.117611735G>ACA276112CFTRc.3294G>A (p.Trp1098Ter)
c.*3008G>A (n.*3008G>A)
c.3111G>A (p.Trp1037Ter)
c.*1594G>A (n.*1594G>A)
c.*3118G>A (n.*3118G>A)
c.2868G>A (p.Trp956Ter)
c.42G>A (p.Trp14Ter)
c.885G>A (p.Trp295Ter)
c.944G>A
c.2076G>A (p.Trp692Ter)
c.3204G>A (p.Trp1068Ter)
c.119G>A
c.3384G>A (p.Trp1128Ter)
c.3051G>A (p.Trp1017Ter)
ClinVar dbSNP

Number of alleles fetched