Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117530899_117534365delCA913189987CFTRc.274_579del
c.364_669del
c.31_336del
n.274_490-883del
ClinVar
7g.117534278delCA327537CFTRc.492del (p.Leu165Ter)
c.582del (p.Leu195Ter)
c.249del (p.Leu84Ter)
n.490-970del (p.=)
ClinVar dbSNP
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.=)
7g.117534281A>CCA368976322CFTRc.495A>C (p.Leu165Phe)
c.585A>C (p.Leu195Phe)
c.252A>C (p.Leu84Phe)
n.490-967A>C (p.=)
7g.117534281A>GCA457226482CFTRc.495A>G (p.Leu165=)
c.585A>G (p.Leu195=)
c.252A>G (p.Leu84=)
n.490-967A>G (p.=)
7g.117534281A>TCA368976324CFTRc.495A>T (p.Leu165Phe)
c.585A>T (p.Leu195Phe)
c.252A>T (p.Leu84Phe)
n.490-967A>T (p.=)
7g.117534282A>CCA368976329CFTRc.496A>C (p.Lys166Gln)
c.586A>C (p.Lys196Gln)
c.253A>C (p.Lys85Gln)
n.490-966A>C (p.=)
7g.117534282A>GCA327538CFTRc.496A>G (p.Lys166Glu)
c.586A>G (p.Lys196Glu)
c.253A>G (p.Lys85Glu)
n.490-966A>G (p.=)
ClinVar dbSNP
7g.117534282A>TCA368976326CFTRc.496A>T (p.Lys166Ter)
c.586A>T (p.Lys196Ter)
c.253A>T (p.Lys85Ter)
n.490-966A>T (p.=)
7g.117534283A>CCA368976337CFTRc.497A>C (p.Lys166Thr)
c.587A>C (p.Lys196Thr)
c.254A>C (p.Lys85Thr)
n.490-965A>C (p.=)
7g.117534283A>GCA368976331CFTRc.497A>G (p.Lys166Arg)
c.587A>G (p.Lys196Arg)
c.254A>G (p.Lys85Arg)
n.490-965A>G (p.=)
7g.117534283A>TCA368976335CFTRc.497A>T (p.Lys166Met)
c.587A>T (p.Lys196Met)
c.254A>T (p.Lys85Met)
n.490-965A>T (p.=)
COSMIC
7g.117534284G>ACA457226489CFTRc.498G>A (p.Lys166=)
c.588G>A (p.Lys196=)
c.255G>A (p.Lys85=)
n.490-964G>A (p.=)
7g.117534284G>CCA368976339CFTRc.498G>C (p.Lys166Asn)
c.588G>C (p.Lys196Asn)
c.255G>C (p.Lys85Asn)
n.490-964G>C (p.=)
7g.117534284G>TCA368976340CFTRc.498G>T (p.Lys166Asn)
c.588G>T (p.Lys196Asn)
c.255G>T (p.Lys85Asn)
n.490-964G>T (p.=)
7g.117534285C>ACA368976342CFTRc.499C>A (p.Leu167Met)
c.589C>A (p.Leu197Met)
c.256C>A (p.Leu86Met)
n.490-963C>A (p.=)
7g.117534285C>GCA368976344CFTRc.499C>G (p.Leu167Val)
c.589C>G (p.Leu197Val)
c.256C>G (p.Leu86Val)
n.490-963C>G (p.=)
7g.117534285C>TCA457226495CFTRc.499C>T (p.Leu167=)
c.589C>T (p.Leu197=)
c.256C>T (p.Leu86=)
n.490-963C>T (p.=)
7g.117534286T>ACA368976349CFTRc.500T>A (p.Leu167Gln)
c.590T>A (p.Leu197Gln)
c.257T>A (p.Leu86Gln)
n.490-962T>A (p.=)
7g.117534286T>CCA368976348CFTRc.500T>C (p.Leu167Pro)
c.590T>C (p.Leu197Pro)
c.257T>C (p.Leu86Pro)
n.490-962T>C (p.=)
7g.117534286T>GCA327543CFTRc.500T>G (p.Leu167Arg)
c.590T>G (p.Leu197Arg)
c.257T>G (p.Leu86Arg)
n.490-962T>G (p.=)
ClinVar dbSNP
7g.117534287G>ACA457226500CFTRc.501G>A (p.Leu167=)
c.591G>A (p.Leu197=)
c.258G>A (p.Leu86=)
n.490-961G>A (p.=)
gnomAD
7g.117534287G>CCA457226501CFTRc.501G>C (p.Leu167=)
c.591G>C (p.Leu197=)
c.258G>C (p.Leu86=)
n.490-961G>C (p.=)
7g.117534287G>TCA457226503CFTRc.501G>T (p.Leu167=)
c.591G>T (p.Leu197=)
c.258G>T (p.Leu86=)
n.490-961G>T (p.=)
7g.117534288T>ACA368976351CFTRc.502T>A (p.Ser168Thr)
c.592T>A (p.Ser198Thr)
c.259T>A (p.Ser87Thr)
n.490-960T>A (p.=)
7g.117534288T>CCA368976353CFTRc.502T>C (p.Ser168Pro)
c.592T>C (p.Ser198Pro)
c.259T>C (p.Ser87Pro)
n.490-960T>C (p.=)
7g.117534288T>GCA368976355CFTRc.502T>G (p.Ser168Ala)
c.592T>G (p.Ser198Ala)
c.259T>G (p.Ser87Ala)
n.490-960T>G (p.=)
7g.117534289C>ACA368976357CFTRc.503C>A (p.Ser168Ter)
c.593C>A (p.Ser198Ter)
c.260C>A (p.Ser87Ter)
n.490-959C>A (p.=)
7g.117534289C>GCA368976359CFTRc.503C>G (p.Ser168Ter)
c.593C>G (p.Ser198Ter)
c.260C>G (p.Ser87Ter)
n.490-959C>G (p.=)
7g.117534289C>TCA164944876CFTRc.503C>T (p.Ser168Leu)
c.593C>T (p.Ser198Leu)
c.260C>T (p.Ser87Leu)
n.490-959C>T (p.=)
ClinVar dbSNP
7g.117534290A>CCA457226512CFTRc.504A>C (p.Ser168=)
c.594A>C (p.Ser198=)
c.261A>C (p.Ser87=)
n.490-958A>C (p.=)
7g.117534290A>GCA457226513CFTRc.504A>G (p.Ser168=)
c.594A>G (p.Ser198=)
c.261A>G (p.Ser87=)
n.490-958A>G (p.=)
7g.117534290A>TCA457226516CFTRc.504A>T (p.Ser168=)
c.594A>T (p.Ser198=)
c.261A>T (p.Ser87=)
n.490-958A>T (p.=)
7g.117534291dupCA913111889CFTRc.505dup (p.Ser169LysfsTer6)
c.595dup (p.Ser199LysfsTer6)
c.262dup (p.Ser88LysfsTer6)
n.490-957dup (p.=)
7g.117534291A>CCA368976360CFTRc.505A>C (p.Ser169Arg)
c.595A>C (p.Ser199Arg)
c.262A>C (p.Ser88Arg)
n.490-957A>C (p.=)
7g.117534291A>GCA368976364CFTRc.505A>G (p.Ser169Gly)
c.595A>G (p.Ser199Gly)
c.262A>G (p.Ser88Gly)
n.490-957A>G (p.=)
ClinVar
7g.117534291A>TCA368976361CFTRc.505A>T (p.Ser169Cys)
c.595A>T (p.Ser199Cys)
c.262A>T (p.Ser88Cys)
n.490-957A>T (p.=)
7g.117534291_117534294delCA832111462CFTRc.505_508del (p.Ser169ValfsTer3)
c.595_598del (p.Ser199ValfsTer3)
c.262_265del (p.Ser88ValfsTer3)
n.490-957_490-954del (p.=)
dbSNP
7g.117534292G>ACA368976366CFTRc.506G>A (p.Ser169Asn)
c.596G>A (p.Ser199Asn)
c.263G>A (p.Ser88Asn)
n.490-956G>A (p.=)
7g.117534292G>CCA368976368CFTRc.506G>C (p.Ser169Thr)
c.596G>C (p.Ser199Thr)
c.263G>C (p.Ser88Thr)
n.490-956G>C (p.=)
7g.117534292G>TCA368976370CFTRc.506G>T (p.Ser169Ile)
c.596G>T (p.Ser199Ile)
c.263G>T (p.Ser88Ile)
n.490-956G>T (p.=)
7g.117534292dupCA658821273CFTRc.506dup (p.Ser169ArgfsTer6)
c.596dup (p.Ser199ArgfsTer6)
c.263dup (p.Ser88ArgfsTer6)
n.490-956dup (p.=)
ClinVar dbSNP
7g.117534293C>ACA368976372CFTRc.507C>A (p.Ser169Arg)
c.597C>A (p.Ser199Arg)
c.264C>A (p.Ser88Arg)
n.490-955C>A (p.=)
7g.117534293C>GCA368976374CFTRc.507C>G (p.Ser169Arg)
c.597C>G (p.Ser199Arg)
c.264C>G (p.Ser88Arg)
n.490-955C>G (p.=)
7g.117534293C>TCA457226525CFTRc.507C>T (p.Ser169=)
c.597C>T (p.Ser199=)
c.264C>T (p.Ser88=)
n.490-955C>T (p.=)
7g.117534294C>ACA4450747CFTRc.508C>A (p.Arg170Ser)
c.598C>A (p.Arg200Ser)
c.265C>A (p.Arg89Ser)
n.490-954C>A (p.=)
dbSNP ExAC gnomAD
7g.117534294C>GCA368976376CFTRc.508C>G (p.Arg170Gly)
c.598C>G (p.Arg200Gly)
c.265C>G (p.Arg89Gly)
n.490-954C>G (p.=)
7g.117534294C>TCA4450746CFTRc.508C>T (p.Arg170Cys)
c.598C>T (p.Arg200Cys)
c.265C>T (p.Arg89Cys)
n.490-954C>T (p.=)
ClinVar dbSNP ExAC gnomAD

Number of alleles fetched