Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117527502_117531824delCA2580076333CFTRc.274-3397_489+710del
c.*171-3397_*386+710del
c.*98-3397_*313+710del
c.31-3397_246+710del
c.364-3397_579+710del
ClinVar
7g.117530896_117531112delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGACA1737359079CFTRc.274-3_487delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA
c.*171-3_*384delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA
c.*98-3_*311delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA
c.31-3_244delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA
c.364-3_577delinsTAGGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCGATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCAGCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA
7g.117530900_117531115delCA913189986CFTRc.275_489+1del
c.*172_*386+1del
c.*99_*313+1del
c.32_246+1del
c.365_579+1del
ClinVar dbSNP
7g.117530900_117534366delCA913189987CFTRc.275_579+1del
c.*172_*476+1del
c.*99_*403+1del
c.32_336+1del
c.275_490-882del
c.365_669+1del
ClinVar
7g.117531033_117531034delinsGCCA1737359529CFTRc.408_409delinsGC (p.Leu136=)
c.*305_*306delinsGC (n.*305_*306delinsGC)
c.*232_*233delinsGC (n.*232_*233delinsGC)
c.165_166delinsGC (p.Leu55=)
c.498_499delinsGC (p.Leu166=)
7g.117531033_117531037delinsGCTCCCA1737359530CFTRc.408_412delinsGCTCC (p.Leu136=)
c.*305_*309delinsGCTCC (n.*305_*309delinsGCTCC)
c.*232_*236delinsGCTCC (n.*232_*236delinsGCTCC)
c.165_169delinsGCTCC (p.Leu55=)
c.498_502delinsGCTCC (p.Leu166=)
7g.117531034delCA327397CFTRc.409del (p.Leu137SerfsTer16)
c.*306del (n.*306del)
c.*233del (n.*233del)
c.166del (p.Leu56SerfsTer16)
c.499del (p.Leu167SerfsTer16)
ClinVar dbSNP
7g.117531034C>ACA368974700CFTRc.409C>A (p.Leu137Ile)
c.*306C>A (n.*306C>A)
c.*233C>A (n.*233C>A)
c.166C>A (p.Leu56Ile)
c.499C>A (p.Leu167Ile)
7g.117531034C>GCA368974698CFTRc.409C>G (p.Leu137Val)
c.*306C>G (n.*306C>G)
c.*233C>G (n.*233C>G)
c.166C>G (p.Leu56Val)
c.499C>G (p.Leu167Val)
7g.117531034C>TCA368974701CFTRc.409C>T (p.Leu137Phe)
c.*306C>T (n.*306C>T)
c.*233C>T (n.*233C>T)
c.166C>T (p.Leu56Phe)
c.499C>T (p.Leu167Phe)
gnomAD v4 COSMIC
7g.117531034_117531037delCA327396CFTRc.409_412del (p.Leu137TyrfsTer15)
c.*306_*309del (n.*306_*309del)
c.*233_*236del (n.*233_*236del)
c.166_169del (p.Leu56TyrfsTer15)
c.499_502del (p.Leu167TyrfsTer15)
ClinVar dbSNP gnomAD v4
7g.117531034_117531041delinsCTCCTACACA1737359531CFTRc.409_416delinsCTCCTACA (p.Leu137=)
c.*306_*313delinsCTCCTACA (n.*306_*313delinsCTCCTACA)
c.*233_*240delinsCTCCTACA (n.*233_*240delinsCTCCTACA)
c.166_173delinsCTCCTACA (p.Leu56=)
c.499_506delinsCTCCTACA (p.Leu167=)
7g.117531035T>ACA327400CFTRc.410T>A (p.Leu137His)
c.*307T>A (n.*307T>A)
c.*234T>A (n.*234T>A)
c.167T>A (p.Leu56His)
c.500T>A (p.Leu167His)
ClinVar dbSNP gnomAD v4
7g.117531035T>CCA164943766CFTRc.410T>C (p.Leu137Pro)
c.*307T>C (n.*307T>C)
c.*234T>C (n.*234T>C)
c.167T>C (p.Leu56Pro)
c.500T>C (p.Leu167Pro)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117531035T>GCA327402CFTRc.410T>G (p.Leu137Arg)
c.*307T>G (n.*307T>G)
c.*234T>G (n.*234T>G)
c.167T>G (p.Leu56Arg)
c.500T>G (p.Leu167Arg)
dbSNP
7g.117531035T=CA1737359532CFTRc.410T= (p.Leu137=)
c.*307T= (n.*307T=)
c.*234T= (n.*234T=)
c.167T= (p.Leu56=)
c.500T= (p.Leu167=)
7g.117531035_117531041delCA915945472CFTRc.410_416del (p.Leu137ProfsTer14)
c.*307_*313del (n.*307_*313del)
c.*234_*240del (n.*234_*240del)
c.167_173del (p.Leu56ProfsTer14)
c.500_506del (p.Leu167ProfsTer14)
ClinVar dbSNP
7g.117531036C>ACA457448687CFTRc.411C>A (p.Leu137=)
c.*308C>A (n.*308C>A)
c.*235C>A (n.*235C>A)
c.168C>A (p.Leu56=)
c.501C>A (p.Leu167=)
7g.117531036C=CA1737359533CFTRc.411C= (p.Leu137=)
c.*308C= (n.*308C=)
c.*235C= (n.*235C=)
c.168C= (p.Leu56=)
c.501C= (p.Leu167=)
7g.117531036C>GCA457448688CFTRc.411C>G (p.Leu137=)
c.*308C>G (n.*308C>G)
c.*235C>G (n.*235C>G)
c.168C>G (p.Leu56=)
c.501C>G (p.Leu167=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117531036C>TCA457448689CFTRc.411C>T (p.Leu137=)
c.*308C>T (n.*308C>T)
c.*235C>T (n.*235C>T)
c.168C>T (p.Leu56=)
c.501C>T (p.Leu167=)
ClinVar gnomAD v4
7g.117531037C>ACA368974717CFTRc.412C>A (p.Leu138Ile)
c.*309C>A (n.*309C>A)
c.*236C>A (n.*236C>A)
c.169C>A (p.Leu57Ile)
c.502C>A (p.Leu168Ile)
7g.117531037C=CA1737359534CFTRc.412C= (p.Leu138=)
c.*309C= (n.*309C=)
c.*236C= (n.*236C=)
c.169C= (p.Leu57=)
c.502C= (p.Leu168=)
7g.117531037C>GCA368974718CFTRc.412C>G (p.Leu138Val)
c.*309C>G (n.*309C>G)
c.*236C>G (n.*236C>G)
c.169C>G (p.Leu57Val)
c.502C>G (p.Leu168Val)
7g.117531037C>TCA457448690CFTRc.412C>T (p.Leu138=)
c.*309C>T (n.*309C>T)
c.*236C>T (n.*236C>T)
c.169C>T (p.Leu57=)
c.502C>T (p.Leu168=)
7g.117531038_117531040dupCA327427CFTRc.413_415dup (p.Leu138_His139insLeu)
c.*310_*312dup (n.*310_*312dup)
c.*237_*239dup (n.*237_*239dup)
c.170_172dup (p.Leu57_His58insLeu)
c.503_505dup (p.Leu168_His169insLeu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117531037_117531038insACTCA327416CFTRc.412_413insACT (p.Leu137_Leu138insHis)
c.*309_*310insACT (n.*309_*310insACT)
c.*236_*237insACT (n.*236_*237insACT)
c.169_170insACT (p.Leu56_Leu57insHis)
c.502_503insACT (p.Leu167_Leu168insHis)
ClinVar dbSNP
7g.117531038T>ACA368974724CFTRc.413T>A (p.Leu138Gln)
c.*310T>A (n.*310T>A)
c.*237T>A (n.*237T>A)
c.170T>A (p.Leu57Gln)
c.503T>A (p.Leu168Gln)
7g.117531038T>CCA164943773CFTRc.413T>C (p.Leu138Pro)
c.*310T>C (n.*310T>C)
c.*237T>C (n.*237T>C)
c.170T>C (p.Leu57Pro)
c.503T>C (p.Leu168Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117531038T>GCA368974721CFTRc.413T>G (p.Leu138Arg)
c.*310T>G (n.*310T>G)
c.*237T>G (n.*237T>G)
c.170T>G (p.Leu57Arg)
c.503T>G (p.Leu168Arg)
gnomAD v4
7g.117531038T=CA1737359539CFTRc.413T= (p.Leu138=)
c.*310T= (n.*310T=)
c.*237T= (n.*237T=)
c.170T= (p.Leu57=)
c.503T= (p.Leu168=)
7g.117531039A>CCA457448693CFTRc.414A>C (p.Leu138=)
c.*311A>C (n.*311A>C)
c.*238A>C (n.*238A>C)
c.171A>C (p.Leu57=)
c.504A>C (p.Leu168=)
7g.117531039A>GCA457448691CFTRc.414A>G (p.Leu138=)
c.*311A>G (n.*311A>G)
c.*238A>G (n.*238A>G)
c.171A>G (p.Leu57=)
c.504A>G (p.Leu168=)
7g.117531039A>TCA457448692CFTRc.414A>T (p.Leu138=)
c.*311A>T (n.*311A>T)
c.*238A>T (n.*238A>T)
c.171A>T (p.Leu57=)
c.504A>T (p.Leu168=)
7g.117531040C>ACA368974727CFTRc.415C>A (p.His139Asn)
c.*312C>A (n.*312C>A)
c.*239C>A (n.*239C>A)
c.172C>A (p.His58Asn)
c.505C>A (p.His169Asn)
7g.117531040C=CA1737359545CFTRc.415C= (p.His139=)
c.*312C= (n.*312C=)
c.*239C= (n.*239C=)
c.172C= (p.His58=)
c.505C= (p.His169=)
7g.117531040C>GCA368974729CFTRc.415C>G (p.His139Asp)
c.*312C>G (n.*312C>G)
c.*239C>G (n.*239C>G)
c.172C>G (p.His58Asp)
c.505C>G (p.His169Asp)
gnomAD v4
7g.117531040C>TCA368974732CFTRc.415C>T (p.His139Tyr)
c.*312C>T (n.*312C>T)
c.*239C>T (n.*239C>T)
c.172C>T (p.His58Tyr)
c.505C>T (p.His169Tyr)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117531040dupCA2684617327CFTRc.415dup (p.His139ProfsTer20)
c.*312dup (n.*312dup)
c.*239dup (n.*239dup)
c.172dup (p.His58ProfsTer20)
c.505dup (p.His169ProfsTer20)
gnomAD v4
7g.117531040_117531041insGACA327429CFTRc.415_416insGA (p.His139ArgfsTer15)
c.*312_*313insGA (n.*312_*313insGA)
c.*239_*240insGA (n.*239_*240insGA)
c.172_173insGA (p.His58ArgfsTer15)
c.505_506insGA (p.His169ArgfsTer15)
dbSNP
7g.117531040_117531041insTACA2695208297CFTRc.415_416insTA (p.His139LeufsTer15)
c.*312_*313insTA (n.*312_*313insTA)
c.*239_*240insTA (n.*239_*240insTA)
c.172_173insTA (p.His58LeufsTer15)
c.505_506insTA (p.His169LeufsTer15)
7g.117531041A=CA1737359552CFTRc.416A= (p.His139=)
c.*313A= (n.*313A=)
c.*240A= (n.*240A=)
c.173A= (p.His58=)
c.506A= (p.His169=)
7g.117531041A>CCA368974738CFTRc.416A>C (p.His139Pro)
c.*313A>C (n.*313A>C)
c.*240A>C (n.*240A>C)
c.173A>C (p.His58Pro)
c.506A>C (p.His169Pro)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117531041A>GCA327434CFTRc.416A>G (p.His139Arg)
c.*313A>G (n.*313A>G)
c.*240A>G (n.*240A>G)
c.173A>G (p.His58Arg)
c.506A>G (p.His169Arg)
ClinVar dbSNP
7g.117531041A>TCA327435CFTRc.416A>T (p.His139Leu)
c.*313A>T (n.*313A>T)
c.*240A>T (n.*240A>T)
c.173A>T (p.His58Leu)
c.506A>T (p.His169Leu)
ClinVar dbSNP
7g.117531042C>ACA368974741CFTRc.417C>A (p.His139Gln)
c.*314C>A (n.*314C>A)
c.*241C>A (n.*241C>A)
c.174C>A (p.His58Gln)
c.507C>A (p.His169Gln)
7g.117531042C=CA1737359565CFTRc.417C= (p.His139=)
c.*314C= (n.*314C=)
c.*241C= (n.*241C=)
c.174C= (p.His58=)
c.507C= (p.His169=)
7g.117531042C>GCA368974745CFTRc.417C>G (p.His139Gln)
c.*314C>G (n.*314C>G)
c.*241C>G (n.*241C>G)
c.174C>G (p.His58Gln)
c.507C>G (p.His169Gln)
7g.117531042C>TCA4450719CFTRc.417C>T (p.His139=)
c.*314C>T (n.*314C>T)
c.*241C>T (n.*241C>T)
c.174C>T (p.His58=)
c.507C>T (p.His169=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117531043C>ACA368974750CFTRc.418C>A (p.Pro140Thr)
c.*315C>A (n.*315C>A)
c.*242C>A (n.*242C>A)
c.175C>A (p.Pro59Thr)
c.508C>A (p.Pro170Thr)

Number of alleles fetched