Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117530899_117534365delCA913189987CFTRc.274_579del
c.364_669del
c.31_336del
n.274_490-883del
ClinVar
7g.117534182T>ACA164944823CFTRc.490-94T>A (p.=)
c.580-94T>A (p.=)
c.247-94T>A (p.=)
n.490-1066T>A (p.=)
dbSNP
7g.117534185A>GCA1106308839CFTRc.490-91A>G (p.=)
c.580-91A>G (p.=)
c.247-91A>G (p.=)
n.490-1063A>G (p.=)
7g.117534185_117534187delCA832111332CFTRc.490-91_490-89del (p.=)
c.580-91_580-89del (p.=)
c.247-91_247-89del (p.=)
n.490-1063_490-1061del (p.=)
dbSNP
7g.117534195_117534198delCA577213530CFTRc.490-81_490-78del (p.=)
c.580-81_580-78del (p.=)
c.247-81_247-78del (p.=)
n.490-1053_490-1050del (p.=)
dbSNP gnomAD
7g.117534198dupCA918111506CFTRc.490-78dup (p.=)
c.580-78dup (p.=)
c.247-78dup (p.=)
n.490-1050dup (p.=)
dbSNP
7g.117534198_117534199delCA577213531CFTRc.490-78_490-77del (p.=)
c.580-78_580-77del (p.=)
c.247-78_247-77del (p.=)
n.490-1050_490-1049del (p.=)
dbSNP gnomAD
7g.117534199delCA918111507CFTRc.490-77del (p.=)
c.580-77del (p.=)
c.247-77del (p.=)
n.490-1049del (p.=)
dbSNP
7g.117534199A>TCA832111350CFTRc.490-77A>T (p.=)
c.580-77A>T (p.=)
c.247-77A>T (p.=)
n.490-1049A>T (p.=)
7g.117534200G>ACA1106308845CFTRc.490-76G>A (p.=)
c.580-76G>A (p.=)
c.247-76G>A (p.=)
n.490-1048G>A (p.=)
7g.117534204T>CCA832111352CFTRc.490-72T>C (p.=)
c.580-72T>C (p.=)
c.247-72T>C (p.=)
n.490-1044T>C (p.=)
7g.117534219_117534223delCA832111367CFTRc.490-57_490-53del (p.=)
c.580-57_580-53del (p.=)
c.247-57_247-53del (p.=)
n.490-1029_490-1025del (p.=)
dbSNP
7g.117534221T>CCA577213533CFTRc.490-55T>C (p.=)
c.580-55T>C (p.=)
c.247-55T>C (p.=)
n.490-1027T>C (p.=)
gnomAD
7g.117534231G>CCA4450740CFTRc.490-45G>C (p.=)
c.580-45G>C (p.=)
c.247-45G>C (p.=)
n.490-1017G>C (p.=)
dbSNP ExAC gnomAD
7g.117534231G>TCA832111376CFTRc.490-45G>T (p.=)
c.580-45G>T (p.=)
c.247-45G>T (p.=)
n.490-1017G>T (p.=)
7g.117534242G>TCA577213534CFTRc.490-34G>T (p.=)
c.580-34G>T (p.=)
c.247-34G>T (p.=)
n.490-1006G>T (p.=)
gnomAD
7g.117534245G>ACA577213535CFTRc.490-31G>A (p.=)
c.580-31G>A (p.=)
c.247-31G>A (p.=)
n.490-1003G>A (p.=)
gnomAD
7g.117534248_117534249delCA913111888CFTRc.490-28_490-27del (p.=)
c.580-28_580-27del (p.=)
c.247-28_247-27del (p.=)
n.490-1000_490-999del (p.=)
7g.117534249delCA4450741CFTRc.490-27del (p.=)
c.580-27del (p.=)
c.247-27del (p.=)
n.490-999del (p.=)
ClinVar dbSNP ExAC gnomAD
7g.117534253C>TCA577213538CFTRc.490-23C>T (p.=)
c.580-23C>T (p.=)
c.247-23C>T (p.=)
n.490-995C>T (p.=)
gnomAD
7g.117534255A>GCA4450742CFTRc.490-21A>G (p.=)
c.580-21A>G (p.=)
c.247-21A>G (p.=)
n.490-993A>G (p.=)
dbSNP ExAC gnomAD
7g.117534256A>GCA4450743CFTRc.490-20A>G (p.=)
c.580-20A>G (p.=)
c.247-20A>G (p.=)
n.490-992A>G (p.=)
dbSNP ExAC gnomAD
7g.117534257C>TCA577213541CFTRc.490-19C>T (p.=)
c.580-19C>T (p.=)
c.247-19C>T (p.=)
n.490-991C>T (p.=)
gnomAD
7g.117534258T>GCA577213542CFTRc.490-18T>G (p.=)
c.580-18T>G (p.=)
c.247-18T>G (p.=)
n.490-990T>G (p.=)
gnomAD
7g.117534261C>TCA164944838CFTRc.490-15C>T (p.=)
c.580-15C>T (p.=)
c.247-15C>T (p.=)
n.490-987C>T (p.=)
dbSNP
7g.117534269C>ACA4450744CFTRc.490-7C>A (p.=)
c.580-7C>A (p.=)
c.247-7C>A (p.=)
n.490-979C>A (p.=)
dbSNP ExAC gnomAD
7g.117534273T>GCA915945474CFTRc.490-3T>G (p.=)
c.580-3T>G (p.=)
c.247-3T>G (p.=)
n.490-975T>G (p.=)
ClinVar
7g.117534274A>CCA368976287CFTRc.490-2A>C (p.=)
c.580-2A>C (p.=)
c.247-2A>C (p.=)
n.490-974A>C (p.=)
7g.117534274A>GCA327534CFTRc.490-2A>G (p.=)
c.580-2A>G (p.=)
c.247-2A>G (p.=)
n.490-974A>G (p.=)
ClinVar dbSNP gnomAD
7g.117534274A>TCA368976289CFTRc.490-2A>T (p.=)
c.580-2A>T (p.=)
c.247-2A>T (p.=)
n.490-974A>T (p.=)
7g.117534275G>ACA327533CFTRc.490-1G>A (p.=)
c.580-1G>A (p.=)
c.247-1G>A (p.=)
n.490-973G>A (p.=)
ClinVar dbSNP ExAC gnomAD
7g.117534275G>CCA368976292CFTRc.490-1G>C (p.=)
c.580-1G>C (p.=)
c.247-1G>C (p.=)
n.490-973G>C (p.=)
7g.117534275G>TCA368976294CFTRc.490-1G>T (p.=)
c.580-1G>T (p.=)
c.247-1G>T (p.=)
n.490-973G>T (p.=)
ClinVar
7g.117534276A>CCA368976296CFTRc.490A>C (p.Thr164Pro)
c.580A>C (p.Thr194Pro)
c.247A>C (p.Thr83Pro)
n.490-972A>C (p.=)
7g.117534276A>GCA4450745CFTRc.490A>G (p.Thr164Ala)
c.580A>G (p.Thr194Ala)
c.247A>G (p.Thr83Ala)
n.490-972A>G (p.=)
ClinVar dbSNP ExAC gnomAD
7g.117534276A>TCA368976298CFTRc.490A>T (p.Thr164Ser)
c.580A>T (p.Thr194Ser)
c.247A>T (p.Thr83Ser)
n.490-972A>T (p.=)
7g.117534277C>ACA368976301CFTRc.491C>A (p.Thr164Asn)
c.581C>A (p.Thr194Asn)
c.248C>A (p.Thr83Asn)
n.490-971C>A (p.=)
7g.117534277C>GCA368976302CFTRc.491C>G (p.Thr164Ser)
c.581C>G (p.Thr194Ser)
c.248C>G (p.Thr83Ser)
n.490-971C>G (p.=)
7g.117534277C>TCA368976311CFTRc.491C>T (p.Thr164Ile)
c.581C>T (p.Thr194Ile)
c.248C>T (p.Thr83Ile)
n.490-971C>T (p.=)
7g.117534278T>ACA164944856CFTRc.492T>A (p.Thr164=)
c.582T>A (p.Thr194=)
c.249T>A (p.Thr83=)
n.490-970T>A (p.=)
dbSNP
7g.117534278T>CCA457226466CFTRc.492T>C (p.Thr164=)
c.582T>C (p.Thr194=)
c.249T>C (p.Thr83=)
n.490-970T>C (p.=)
7g.117534278T>GCA457226469CFTRc.492T>G (p.Thr164=)
c.582T>G (p.Thr194=)
c.249T>G (p.Thr83=)
n.490-970T>G (p.=)
7g.117534278delCA327537CFTRc.492del (p.Leu165Ter)
c.582del (p.Leu195Ter)
c.249del (p.Leu84Ter)
n.490-970del (p.=)
ClinVar dbSNP
7g.117534279T>ACA368976314CFTRc.493T>A (p.Leu165Ile)
c.583T>A (p.Leu195Ile)
c.250T>A (p.Leu84Ile)
n.490-969T>A (p.=)
7g.117534279T>CCA457226474CFTRc.493T>C (p.Leu165=)
c.583T>C (p.Leu195=)
c.250T>C (p.Leu84=)
n.490-969T>C (p.=)
7g.117534279T>GCA368976316CFTRc.493T>G (p.Leu165Val)
c.583T>G (p.Leu195Val)
c.250T>G (p.Leu84Val)
n.490-969T>G (p.=)
7g.117534280T>ACA368976318CFTRc.494T>A (p.Leu165Ter)
c.584T>A (p.Leu195Ter)
c.251T>A (p.Leu84Ter)
n.490-968T>A (p.=)
7g.117534280T>CCA327535CFTRc.494T>C (p.Leu165Ser)
c.584T>C (p.Leu195Ser)
c.251T>C (p.Leu84Ser)
n.490-968T>C (p.=)
ClinVar dbSNP
7g.117534280T>GCA368976319CFTRc.494T>G (p.Leu165Ter)
c.584T>G (p.Leu195Ter)
c.251T>G (p.Leu84Ter)
n.490-968T>G (p.=)

Number of alleles fetched