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.117531014T>ACA368974583CFTRc.389T>A (p.Leu130His)
c.*286T>A (n.*286T>A)
c.*213T>A (n.*213T>A)
c.146T>A (p.Leu49His)
c.479T>A (p.Leu160His)
7g.117531014T>CCA368974588CFTRc.389T>C (p.Leu130Pro)
c.*286T>C (n.*286T>C)
c.*213T>C (n.*213T>C)
c.146T>C (p.Leu49Pro)
c.479T>C (p.Leu160Pro)
ClinVar dbSNP
7g.117531014T>GCA368974586CFTRc.389T>G (p.Leu130Arg)
c.*286T>G (n.*286T>G)
c.*213T>G (n.*213T>G)
c.146T>G (p.Leu49Arg)
c.479T>G (p.Leu160Arg)
7g.117531014T=CA1737359512CFTRc.389T= (p.Leu130=)
c.*286T= (n.*286T=)
c.*213T= (n.*213T=)
c.146T= (p.Leu49=)
c.479T= (p.Leu160=)
7g.117531015C>ACA457448669CFTRc.390C>A (p.Leu130=)
c.*287C>A (n.*287C>A)
c.*214C>A (n.*214C>A)
c.147C>A (p.Leu49=)
c.480C>A (p.Leu160=)
7g.117531015C=CA1737359514CFTRc.390C= (p.Leu130=)
c.*287C= (n.*287C=)
c.*214C= (n.*214C=)
c.147C= (p.Leu49=)
c.480C= (p.Leu160=)
7g.117531015C>GCA457448670CFTRc.390C>G (p.Leu130=)
c.*287C>G (n.*287C>G)
c.*214C>G (n.*214C>G)
c.147C>G (p.Leu49=)
c.480C>G (p.Leu160=)
ClinVar dbSNP gnomAD v4
7g.117531015C>TCA457448671CFTRc.390C>T (p.Leu130=)
c.*287C>T (n.*287C>T)
c.*214C>T (n.*214C>T)
c.147C>T (p.Leu49=)
c.480C>T (p.Leu160=)
dbSNP gnomAD v2 gnomAD v4
7g.117531015_117531016delinsCTCA1737359513CFTRc.390_391delinsCT (p.Leu130=)
c.*287_*288delinsCT (n.*287_*288delinsCT)
c.*214_*215delinsCT (n.*214_*215delinsCT)
c.147_148delinsCT (p.Leu49=)
c.480_481delinsCT (p.Leu160=)
7g.117531016T>ACA368974593CFTRc.391T>A (p.Phe131Ile)
c.*288T>A (n.*288T>A)
c.*215T>A (n.*215T>A)
c.148T>A (p.Phe50Ile)
c.481T>A (p.Phe161Ile)
7g.117531016T>CCA4450715CFTRc.391T>C (p.Phe131Leu)
c.*288T>C (n.*288T>C)
c.*215T>C (n.*215T>C)
c.148T>C (p.Phe50Leu)
c.481T>C (p.Phe161Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117531016T>GCA368974597CFTRc.391T>G (p.Phe131Val)
c.*288T>G (n.*288T>G)
c.*215T>G (n.*215T>G)
c.148T>G (p.Phe50Val)
c.481T>G (p.Phe161Val)
7g.117531016T=CA1737359515CFTRc.391T= (p.Phe131=)
c.*288T= (n.*288T=)
c.*215T= (n.*215T=)
c.148T= (p.Phe50=)
c.481T= (p.Phe161=)
7g.117531018delCA327359CFTRc.393del (p.Phe131LeufsTer3)
c.*290del (n.*290del)
c.*217del (n.*217del)
c.150del (p.Phe50LeufsTer3)
c.483del (p.Phe161LeufsTer3)
ClinVar dbSNP
7g.117531017T>ACA368974602CFTRc.392T>A (p.Phe131Tyr)
c.*289T>A (n.*289T>A)
c.*216T>A (n.*216T>A)
c.149T>A (p.Phe50Tyr)
c.482T>A (p.Phe161Tyr)
gnomAD v4
7g.117531017T>CCA368974604CFTRc.392T>C (p.Phe131Ser)
c.*289T>C (n.*289T>C)
c.*216T>C (n.*216T>C)
c.149T>C (p.Phe50Ser)
c.482T>C (p.Phe161Ser)
7g.117531017T>GCA368974606CFTRc.392T>G (p.Phe131Cys)
c.*289T>G (n.*289T>G)
c.*216T>G (n.*216T>G)
c.149T>G (p.Phe50Cys)
c.482T>G (p.Phe161Cys)
7g.117531017_117531022delinsTTATTGCA1737359516CFTRc.392_397delinsTTATTG (p.Phe131=)
c.*289_*294delinsTTATTG (n.*289_*294delinsTTATTG)
c.*216_*221delinsTTATTG (n.*216_*221delinsTTATTG)
c.149_154delinsTTATTG (p.Phe50=)
c.482_487delinsTTATTG (p.Phe161=)
7g.117531018T>ACA368974609CFTRc.393T>A (p.Phe131Leu)
c.*290T>A (n.*290T>A)
c.*217T>A (n.*217T>A)
c.150T>A (p.Phe50Leu)
c.483T>A (p.Phe161Leu)
7g.117531018T>CCA16612013CFTRc.393T>C (p.Phe131=)
c.*290T>C (n.*290T>C)
c.*217T>C (n.*217T>C)
c.150T>C (p.Phe50=)
c.483T>C (p.Phe161=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117531018T>GCA368974612CFTRc.393T>G (p.Phe131Leu)
c.*290T>G (n.*290T>G)
c.*217T>G (n.*217T>G)
c.150T>G (p.Phe50Leu)
c.483T>G (p.Phe161Leu)
7g.117531018T=CA1737359517CFTRc.393T= (p.Phe131=)
c.*290T= (n.*290T=)
c.*217T= (n.*217T=)
c.150T= (p.Phe50=)
c.483T= (p.Phe161=)
7g.117531019_117531023delCA1139660221CFTRc.394_398del (p.Ile132GlufsTer25)
c.*291_*295del (n.*291_*295del)
c.*218_*222del (n.*218_*222del)
c.151_155del (p.Ile51GlufsTer25)
c.484_488del (p.Ile162GlufsTer25)
ClinVar dbSNP
7g.117531019delCA2728957964CFTRc.394del (p.Ile132LeufsTer2)
c.*291del (n.*291del)
c.*218del (n.*218del)
c.151del (p.Ile51LeufsTer2)
c.484del (p.Ile162LeufsTer2)
7g.117531019A=CA1737359518CFTRc.394A= (p.Ile132=)
c.*291A= (n.*291A=)
c.*218A= (n.*218A=)
c.151A= (p.Ile51=)
c.484A= (p.Ile162=)
7g.117531019A>CCA368974615CFTRc.394A>C (p.Ile132Leu)
c.*291A>C (n.*291A>C)
c.*218A>C (n.*218A>C)
c.151A>C (p.Ile51Leu)
c.484A>C (p.Ile162Leu)
7g.117531019A>GCA4450716CFTRc.394A>G (p.Ile132Val)
c.*291A>G (n.*291A>G)
c.*218A>G (n.*218A>G)
c.151A>G (p.Ile51Val)
c.484A>G (p.Ile162Val)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.117531019A>TCA368974618CFTRc.394A>T (p.Ile132Phe)
c.*291A>T (n.*291A>T)
c.*218A>T (n.*218A>T)
c.151A>T (p.Ile51Phe)
c.484A>T (p.Ile162Phe)
7g.117531019_117531020delinsATCA1737359519CFTRc.394_395delinsAT (p.Ile132=)
c.*291_*292delinsAT (n.*291_*292delinsAT)
c.*218_*219delinsAT (n.*218_*219delinsAT)
c.151_152delinsAT (p.Ile51=)
c.484_485delinsAT (p.Ile162=)
7g.117531020T>ACA368974624CFTRc.395T>A (p.Ile132Asn)
c.*292T>A (n.*292T>A)
c.*219T>A (n.*219T>A)
c.152T>A (p.Ile51Asn)
c.485T>A (p.Ile162Asn)
7g.117531020T>CCA368974620CFTRc.395T>C (p.Ile132Thr)
c.*292T>C (n.*292T>C)
c.*219T>C (n.*219T>C)
c.152T>C (p.Ile51Thr)
c.485T>C (p.Ile162Thr)
dbSNP gnomAD v2 gnomAD v4
7g.117531020T>GCA368974622CFTRc.395T>G (p.Ile132Ser)
c.*292T>G (n.*292T>G)
c.*219T>G (n.*219T>G)
c.152T>G (p.Ile51Ser)
c.485T>G (p.Ile162Ser)
7g.117531020T=CA1737359521CFTRc.395T= (p.Ile132=)
c.*292T= (n.*292T=)
c.*219T= (n.*219T=)
c.152T= (p.Ile51=)
c.485T= (p.Ile162=)
7g.117531021delCA1737359520CFTRc.396del (p.Ile132MetfsTer2)
c.*293del (n.*293del)
c.*220del (n.*220del)
c.153del (p.Ile51MetfsTer2)
c.486del (p.Ile162MetfsTer2)
ClinVar dbSNP
7g.117531021T>ACA457448674CFTRc.396T>A (p.Ile132=)
c.*293T>A (n.*293T>A)
c.*220T>A (n.*220T>A)
c.153T>A (p.Ile51=)
c.486T>A (p.Ile162=)
7g.117531021T>CCA457448675CFTRc.396T>C (p.Ile132=)
c.*293T>C (n.*293T>C)
c.*220T>C (n.*220T>C)
c.153T>C (p.Ile51=)
c.486T>C (p.Ile162=)
ClinVar
7g.117531021T>GCA368974626CFTRc.396T>G (p.Ile132Met)
c.*293T>G (n.*293T>G)
c.*220T>G (n.*220T>G)
c.153T>G (p.Ile51Met)
c.486T>G (p.Ile162Met)
gnomAD v4
7g.117531022G>ACA368974630CFTRc.397G>A (p.Val133Met)
c.*294G>A (n.*294G>A)
c.*221G>A (n.*221G>A)
c.154G>A (p.Val52Met)
c.487G>A (p.Val163Met)
7g.117531022G>CCA368974633CFTRc.397G>C (p.Val133Leu)
c.*294G>C (n.*294G>C)
c.*221G>C (n.*221G>C)
c.154G>C (p.Val52Leu)
c.487G>C (p.Val163Leu)
gnomAD v4
7g.117531022G>TCA368974635CFTRc.397G>T (p.Val133Leu)
c.*294G>T (n.*294G>T)
c.*221G>T (n.*221G>T)
c.154G>T (p.Val52Leu)
c.487G>T (p.Val163Leu)
gnomAD v4
7g.117531023T>ACA368974637CFTRc.398T>A (p.Val133Glu)
c.*295T>A (n.*295T>A)
c.*222T>A (n.*222T>A)
c.155T>A (p.Val52Glu)
c.488T>A (p.Val163Glu)
7g.117531023T>CCA368974639CFTRc.398T>C (p.Val133Ala)
c.*295T>C (n.*295T>C)
c.*222T>C (n.*222T>C)
c.155T>C (p.Val52Ala)
c.488T>C (p.Val163Ala)
7g.117531023T>GCA368974643CFTRc.398T>G (p.Val133Gly)
c.*295T>G (n.*295T>G)
c.*222T>G (n.*222T>G)
c.155T>G (p.Val52Gly)
c.488T>G (p.Val163Gly)
7g.117531024G>ACA457448676CFTRc.399G>A (p.Val133=)
c.*296G>A (n.*296G>A)
c.*223G>A (n.*223G>A)
c.156G>A (p.Val52=)
c.489G>A (p.Val163=)
gnomAD v4
7g.117531024G>CCA457448677CFTRc.399G>C (p.Val133=)
c.*296G>C (n.*296G>C)
c.*223G>C (n.*223G>C)
c.156G>C (p.Val52=)
c.489G>C (p.Val163=)
7g.117531024G>TCA457448678CFTRc.399G>T (p.Val133=)
c.*296G>T (n.*296G>T)
c.*223G>T (n.*223G>T)
c.156G>T (p.Val52=)
c.489G>T (p.Val163=)

Number of alleles fetched