Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117540097_117540344delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATACCA1737331753CFTRc.870-3_1114delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC
c.*767-3_*1011delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC
c.*694-3_*938delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC
c.627-3_871delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC
c.780-3_1024delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC
c.960-3_1204delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC
7g.117540100_117540346delCA913189992CFTRc.870_1116del
c.*767_*1013del
c.*694_*940del
c.627_873del
c.780_1026del
c.960_1206del
 ClinVar dbSNP
7g.117540152_117540156delCA2573141557CFTRc.922_926del (p.Ser308LeufsTer?)
c.*819_*823del (n.*819_*823del)
c.*746_*750del (n.*746_*750del)
c.679_683del (p.Ser227LeufsTer?)
c.832_836del (p.Ser278LeufsTer?)
c.1012_1016del (p.Ser338LeufsTer?)
 ClinVar dbSNP
7g.117540155G>ACA4450864CFTRc.925G>A (p.Ala309Thr)
c.*822G>A (n.*822G>A)
c.*749G>A (n.*749G>A)
c.682G>A (p.Ala228Thr)
c.835G>A (p.Ala279Thr)
c.1015G>A (p.Ala339Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117540155G>CCA368978245CFTRc.925G>C (p.Ala309Pro)
c.*822G>C (n.*822G>C)
c.*749G>C (n.*749G>C)
c.682G>C (p.Ala228Pro)
c.835G>C (p.Ala279Pro)
c.1015G>C (p.Ala339Pro)
7g.117540155G=CA1737331871CFTRc.925G= (p.Ala309=)
c.*822G= (n.*822G=)
c.*749G= (n.*749G=)
c.682G= (p.Ala228=)
c.835G= (p.Ala279=)
c.1015G= (p.Ala339=)
7g.117540155G>TCA368978246CFTRc.925G>T (p.Ala309Ser)
c.*822G>T (n.*822G>T)
c.*749G>T (n.*749G>T)
c.682G>T (p.Ala228Ser)
c.835G>T (p.Ala279Ser)
c.1015G>T (p.Ala339Ser)
7g.117540156C>ACA368978263CFTRc.926C>A (p.Ala309Asp)
c.*823C>A (n.*823C>A)
c.*750C>A (n.*750C>A)
c.683C>A (p.Ala228Asp)
c.836C>A (p.Ala279Asp)
c.1016C>A (p.Ala339Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117540156C=CA1737331878CFTRc.926C= (p.Ala309=)
c.*823C= (n.*823C=)
c.*750C= (n.*750C=)
c.683C= (p.Ala228=)
c.836C= (p.Ala279=)
c.1016C= (p.Ala339=)
7g.117540156C>GCA327692CFTRc.926C>G (p.Ala309Gly)
c.*823C>G (n.*823C>G)
c.*750C>G (n.*750C>G)
c.683C>G (p.Ala228Gly)
c.836C>G (p.Ala279Gly)
c.1016C>G (p.Ala339Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117540156C>TCA368978259CFTRc.926C>T (p.Ala309Val)
c.*823C>T (n.*823C>T)
c.*750C>T (n.*750C>T)
c.683C>T (p.Ala228Val)
c.836C>T (p.Ala279Val)
c.1016C>T (p.Ala339Val)
 ClinVar dbSNP
7g.117540157delCA2684618158CFTRc.927del (p.Phe310SerfsTer18)
c.*824del (n.*824del)
c.*751del (n.*751del)
c.684del (p.Phe229SerfsTer18)
c.837del (p.Phe280SerfsTer18)
c.1017del (p.Phe340SerfsTer18)
 gnomAD v4
7g.117540156_117540159delinsCCTTCA1737331876CFTRc.926_929delinsCCTT (p.Ala309=)
c.*823_*826delinsCCTT (n.*823_*826delinsCCTT)
c.*750_*753delinsCCTT (n.*750_*753delinsCCTT)
c.683_686delinsCCTT (p.Ala228=)
c.836_839delinsCCTT (p.Ala279=)
c.1016_1019delinsCCTT (p.Ala339=)
7g.117540157C>ACA164953503CFTRc.927C>A (p.Ala309=)
c.*824C>A (n.*824C>A)
c.*751C>A (n.*751C>A)
c.684C>A (p.Ala228=)
c.837C>A (p.Ala279=)
c.1017C>A (p.Ala339=)
 ClinVar dbSNP
7g.117540157C=CA1737331884CFTRc.927C= (p.Ala309=)
c.*824C= (n.*824C=)
c.*751C= (n.*751C=)
c.684C= (p.Ala228=)
c.837C= (p.Ala279=)
c.1017C= (p.Ala339=)
7g.117540157C>GCA4450865CFTRc.927C>G (p.Ala309=)
c.*824C>G (n.*824C>G)
c.*751C>G (n.*751C>G)
c.684C>G (p.Ala228=)
c.837C>G (p.Ala279=)
c.1017C>G (p.Ala339=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117540157C>TCA4450866CFTRc.927C>T (p.Ala309=)
c.*824C>T (n.*824C>T)
c.*751C>T (n.*751C>T)
c.684C>T (p.Ala228=)
c.837C>T (p.Ala279=)
c.1017C>T (p.Ala339=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117540165_117540167dupCA1737331881CFTRc.935_937dup (p.Phe312_Ser313insPhe)
c.*832_*834dup (n.*832_*834dup)
c.*759_*761dup (n.*759_*761dup)
c.692_694dup (p.Phe231_Ser232insPhe)
c.845_847dup (p.Phe282_Ser283insPhe)
c.1025_1027dup (p.Phe342_Ser343insPhe)
 dbSNP
7g.117540165_117540167delCA221037CFTRc.935_937del (p.Phe312del)
c.*832_*834del (n.*832_*834del)
c.*759_*761del (n.*759_*761del)
c.692_694del (p.Phe231del)
c.845_847del (p.Phe282del)
c.1025_1027del (p.Phe342del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117540158T>ACA368978289CFTRc.928T>A (p.Phe310Ile)
c.*825T>A (n.*825T>A)
c.*752T>A (n.*752T>A)
c.685T>A (p.Phe229Ile)
c.838T>A (p.Phe280Ile)
c.1018T>A (p.Phe340Ile)
7g.117540158T>CCA368978296CFTRc.928T>C (p.Phe310Leu)
c.*825T>C (n.*825T>C)
c.*752T>C (n.*752T>C)
c.685T>C (p.Phe229Leu)
c.838T>C (p.Phe280Leu)
c.1018T>C (p.Phe340Leu)
7g.117540158T>GCA368978293CFTRc.928T>G (p.Phe310Val)
c.*825T>G (n.*825T>G)
c.*752T>G (n.*752T>G)
c.685T>G (p.Phe229Val)
c.838T>G (p.Phe280Val)
c.1018T>G (p.Phe340Val)
7g.117540159T>ACA368978299CFTRc.929T>A (p.Phe310Tyr)
c.*826T>A (n.*826T>A)
c.*753T>A (n.*753T>A)
c.686T>A (p.Phe229Tyr)
c.839T>A (p.Phe280Tyr)
c.1019T>A (p.Phe340Tyr)
7g.117540159T>CCA368978303CFTRc.929T>C (p.Phe310Ser)
c.*826T>C (n.*826T>C)
c.*753T>C (n.*753T>C)
c.686T>C (p.Phe229Ser)
c.839T>C (p.Phe280Ser)
c.1019T>C (p.Phe340Ser)
7g.117540159T>GCA368978305CFTRc.929T>G (p.Phe310Cys)
c.*826T>G (n.*826T>G)
c.*753T>G (n.*753T>G)
c.686T>G (p.Phe229Cys)
c.839T>G (p.Phe280Cys)
c.1019T>G (p.Phe340Cys)
 gnomAD v4
7g.117540159_117540160delinsTCCA1737331887CFTRc.929_930delinsTC (p.Phe310=)
c.*826_*827delinsTC (n.*826_*827delinsTC)
c.*753_*754delinsTC (n.*753_*754delinsTC)
c.686_687delinsTC (p.Phe229=)
c.839_840delinsTC (p.Phe280=)
c.1019_1020delinsTC (p.Phe340=)
7g.117540160delCA915945466CFTRc.930del (p.Phe311SerfsTer17)
c.*827del (n.*827del)
c.*754del (n.*754del)
c.687del (p.Phe230SerfsTer17)
c.840del (p.Phe281SerfsTer17)
c.1020del (p.Phe341SerfsTer17)
 ClinVar dbSNP
7g.117540160C>ACA368978306CFTRc.930C>A (p.Phe310Leu)
c.*827C>A (n.*827C>A)
c.*754C>A (n.*754C>A)
c.687C>A (p.Phe229Leu)
c.840C>A (p.Phe280Leu)
c.1020C>A (p.Phe340Leu)
 gnomAD v4
7g.117540160C=CA1737331893CFTRc.930C= (p.Phe310=)
c.*827C= (n.*827C=)
c.*754C= (n.*754C=)
c.687C= (p.Phe229=)
c.840C= (p.Phe280=)
c.1020C= (p.Phe340=)
7g.117540160C>GCA368978310CFTRc.930C>G (p.Phe310Leu)
c.*827C>G (n.*827C>G)
c.*754C>G (n.*754C>G)
c.687C>G (p.Phe229Leu)
c.840C>G (p.Phe280Leu)
c.1020C>G (p.Phe340Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117540160C>TCA457448611CFTRc.930C>T (p.Phe310=)
c.*827C>T (n.*827C>T)
c.*754C>T (n.*754C>T)
c.687C>T (p.Phe229=)
c.840C>T (p.Phe280=)
c.1020C>T (p.Phe340=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117540161T>ACA368978312CFTRc.931T>A (p.Phe311Ile)
c.*828T>A (n.*828T>A)
c.*755T>A (n.*755T>A)
c.688T>A (p.Phe230Ile)
c.841T>A (p.Phe281Ile)
c.1021T>A (p.Phe341Ile)
7g.117540161T>CCA368978315CFTRc.931T>C (p.Phe311Leu)
c.*828T>C (n.*828T>C)
c.*755T>C (n.*755T>C)
c.688T>C (p.Phe230Leu)
c.841T>C (p.Phe281Leu)
c.1021T>C (p.Phe341Leu)
 ClinVar dbSNP
7g.117540161T>GCA368978318CFTRc.931T>G (p.Phe311Val)
c.*828T>G (n.*828T>G)
c.*755T>G (n.*755T>G)
c.688T>G (p.Phe230Val)
c.841T>G (p.Phe281Val)
c.1021T>G (p.Phe341Val)
 ClinVar
7g.117540162T>ACA368978325CFTRc.932T>A (p.Phe311Tyr)
c.*829T>A (n.*829T>A)
c.*756T>A (n.*756T>A)
c.689T>A (p.Phe230Tyr)
c.842T>A (p.Phe281Tyr)
c.1022T>A (p.Phe341Tyr)
7g.117540162T>CCA368978324CFTRc.932T>C (p.Phe311Ser)
c.*829T>C (n.*829T>C)
c.*756T>C (n.*756T>C)
c.689T>C (p.Phe230Ser)
c.842T>C (p.Phe281Ser)
c.1022T>C (p.Phe341Ser)
 ClinVar
7g.117540162T>GCA368978321CFTRc.932T>G (p.Phe311Cys)
c.*829T>G (n.*829T>G)
c.*756T>G (n.*756T>G)
c.689T>G (p.Phe230Cys)
c.842T>G (p.Phe281Cys)
c.1022T>G (p.Phe341Cys)
 ClinVar dbSNP
7g.117540162T=CA1737331896CFTRc.932T= (p.Phe311=)
c.*829T= (n.*829T=)
c.*756T= (n.*756T=)
c.689T= (p.Phe230=)
c.842T= (p.Phe281=)
c.1022T= (p.Phe341=)
7g.117540163C>ACA368978326CFTRc.933C>A (p.Phe311Leu)
c.*830C>A (n.*830C>A)
c.*757C>A (n.*757C>A)
c.690C>A (p.Phe230Leu)
c.843C>A (p.Phe281Leu)
c.1023C>A (p.Phe341Leu)
 ClinVar
7g.117540163C=CA1737331899CFTRc.933C= (p.Phe311=)
c.*830C= (n.*830C=)
c.*757C= (n.*757C=)
c.690C= (p.Phe230=)
c.843C= (p.Phe281=)
c.1023C= (p.Phe341=)
7g.117540163C>GCA325549CFTRc.933C>G (p.Phe311Leu)
c.*830C>G (n.*830C>G)
c.*757C>G (n.*757C>G)
c.690C>G (p.Phe230Leu)
c.843C>G (p.Phe281Leu)
c.1023C>G (p.Phe341Leu)
 ClinVar dbSNP gnomAD v4
7g.117540163C>TCA457448613CFTRc.933C>T (p.Phe311=)
c.*830C>T (n.*830C>T)
c.*757C>T (n.*757C>T)
c.690C>T (p.Phe230=)
c.843C>T (p.Phe281=)
c.1023C>T (p.Phe341=)
7g.117540163_117540164insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCCCA2500278839CFTRc.933_934insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC
c.*830_*831insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC (n.*830_*831insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC)
c.*757_*758insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC (n.*757_*758insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC)
c.690_691insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC
c.843_844insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC
c.1023_1024insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC
7g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCCCA2546354450CFTRc.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
c.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC (n.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC)
c.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC (n.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC)
c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
c.843_844insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
c.1023_1024insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC
7g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAACA2542784879CFTRc.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe312ArgfsTer8)
c.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA (n.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA)
c.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA (n.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA)
c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe231ArgfsTer8)
c.843_844insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe282ArgfsTer8)
c.1023_1024insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe342ArgfsTer8)
7g.117540163_117540164insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAACA2564132800CFTRc.933_934insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe312ArgfsTer8)
c.*830_*831insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (n.*830_*831insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA)
c.*757_*758insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (n.*757_*758insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA)
c.690_691insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe231ArgfsTer8)
c.843_844insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe282ArgfsTer8)
c.1023_1024insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe342ArgfsTer8)
7g.117540163_117540164insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAACA2558367665CFTRc.933_934insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe312ArgfsTer8)
c.*830_*831insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA (n.*830_*831insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA)
c.*757_*758insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA (n.*757_*758insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA)
c.690_691insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe231ArgfsTer8)
c.843_844insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe282ArgfsTer8)
c.1023_1024insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA (p.Phe342ArgfsTer8)
7g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAACA2530333085CFTRc.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe312ArgfsTer8)
c.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (n.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA)
c.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (n.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA)
c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe231ArgfsTer8)
c.843_844insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe282ArgfsTer8)
c.1023_1024insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA (p.Phe342ArgfsTer8)
7g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAACA2554840762CFTRc.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe312ArgfsTer8)
c.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA (n.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA)
c.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA (n.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA)
c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe231ArgfsTer8)
c.843_844insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe282ArgfsTer8)
c.1023_1024insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe342ArgfsTer8)
7g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAACA2532597899CFTRc.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA (p.Phe312ArgfsTer8)
c.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA (n.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA)
c.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA (n.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA)
c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA (p.Phe231ArgfsTer8)
c.843_844insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA (p.Phe282ArgfsTer8)
c.1023_1024insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA (p.Phe342ArgfsTer8)
7g.117540164T>ACA368978329CFTRc.934T>A (p.Phe312Ile)
c.*831T>A (n.*831T>A)
c.*758T>A (n.*758T>A)
c.691T>A (p.Phe231Ile)
c.844T>A (p.Phe282Ile)
c.1024T>A (p.Phe342Ile)
7g.117540164T>CCA368978327CFTRc.934T>C (p.Phe312Leu)
c.*831T>C (n.*831T>C)
c.*758T>C (n.*758T>C)
c.691T>C (p.Phe231Leu)
c.844T>C (p.Phe282Leu)
c.1024T>C (p.Phe342Leu)
7g.117540164T>GCA368978328CFTRc.934T>G (p.Phe312Val)
c.*831T>G (n.*831T>G)
c.*758T>G (n.*758T>G)
c.691T>G (p.Phe231Val)
c.844T>G (p.Phe282Val)
c.1024T>G (p.Phe342Val)
7g.117540165T>ACA368978332CFTRc.935T>A (p.Phe312Tyr)
c.*832T>A (n.*832T>A)
c.*759T>A (n.*759T>A)
c.692T>A (p.Phe231Tyr)
c.845T>A (p.Phe282Tyr)
c.1025T>A (p.Phe342Tyr)
7g.117540165T>CCA368978333CFTRc.935T>C (p.Phe312Ser)
c.*832T>C (n.*832T>C)
c.*759T>C (n.*759T>C)
c.692T>C (p.Phe231Ser)
c.845T>C (p.Phe282Ser)
c.1025T>C (p.Phe342Ser)
7g.117540165T>GCA368978335CFTRc.935T>G (p.Phe312Cys)
c.*832T>G (n.*832T>G)
c.*759T>G (n.*759T>G)
c.692T>G (p.Phe231Cys)
c.845T>G (p.Phe282Cys)
c.1025T>G (p.Phe342Cys)
7g.117540165_117540166insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAACA2562294255CFTRc.935_936insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe313AlafsTer10)
c.*832_*833insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA (n.*832_*833insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA)
c.*759_*760insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA (n.*759_*760insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA)
c.692_693insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe232AlafsTer10)
c.845_846insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe283AlafsTer10)
c.1025_1026insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA (p.Phe343AlafsTer10)
7g.117540165_117540166insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAACA2518214346CFTRc.935_936insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA (p.Phe313AlafsTer10)
c.*832_*833insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA (n.*832_*833insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA)
c.*759_*760insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA (n.*759_*760insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA)
c.692_693insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA (p.Phe232AlafsTer10)
c.845_846insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA (p.Phe283AlafsTer10)
c.1025_1026insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA (p.Phe343AlafsTer10)
7g.117540166C>ACA368978337CFTRc.936C>A (p.Phe312Leu)
c.*833C>A (n.*833C>A)
c.*760C>A (n.*760C>A)
c.693C>A (p.Phe231Leu)
c.846C>A (p.Phe282Leu)
c.1026C>A (p.Phe342Leu)
7g.117540166C>GCA368978341CFTRc.936C>G (p.Phe312Leu)
c.*833C>G (n.*833C>G)
c.*760C>G (n.*760C>G)
c.693C>G (p.Phe231Leu)
c.846C>G (p.Phe282Leu)
c.1026C>G (p.Phe342Leu)
7g.117540166C>TCA457448615CFTRc.936C>T (p.Phe312=)
c.*833C>T (n.*833C>T)
c.*760C>T (n.*760C>T)
c.693C>T (p.Phe231=)
c.846C>T (p.Phe282=)
c.1026C>T (p.Phe342=)
 gnomAD v4
7g.117540167T>ACA368978343CFTRc.937T>A (p.Ser313Thr)
c.*834T>A (n.*834T>A)
c.*761T>A (n.*761T>A)
c.694T>A (p.Ser232Thr)
c.847T>A (p.Ser283Thr)
c.1027T>A (p.Ser343Thr)
7g.117540167T>CCA368978344CFTRc.937T>C (p.Ser313Pro)
c.*834T>C (n.*834T>C)
c.*761T>C (n.*761T>C)
c.694T>C (p.Ser232Pro)
c.847T>C (p.Ser283Pro)
c.1027T>C (p.Ser343Pro)
 gnomAD v4
7g.117540167T>GCA368978345CFTRc.937T>G (p.Ser313Ala)
c.*834T>G (n.*834T>G)
c.*761T>G (n.*761T>G)
c.694T>G (p.Ser232Ala)
c.847T>G (p.Ser283Ala)
c.1027T>G (p.Ser343Ala)
7g.117540168C>ACA368978351CFTRc.938C>A (p.Ser313Ter)
c.*835C>A (n.*835C>A)
c.*762C>A (n.*762C>A)
c.695C>A (p.Ser232Ter)
c.848C>A (p.Ser283Ter)
c.1028C>A (p.Ser343Ter)
7g.117540168C>GCA368978349CFTRc.938C>G (p.Ser313Ter)
c.*835C>G (n.*835C>G)
c.*762C>G (n.*762C>G)
c.695C>G (p.Ser232Ter)
c.848C>G (p.Ser283Ter)
c.1028C>G (p.Ser343Ter)
7g.117540168C>TCA368978348CFTRc.938C>T (p.Ser313Leu)
c.*835C>T (n.*835C>T)
c.*762C>T (n.*762C>T)
c.695C>T (p.Ser232Leu)
c.848C>T (p.Ser283Leu)
c.1028C>T (p.Ser343Leu)
7g.117540169A=CA1737331902CFTRc.939A= (p.Ser313=)
c.*836A= (n.*836A=)
c.*763A= (n.*763A=)
c.696A= (p.Ser232=)
c.849A= (p.Ser283=)
c.1029A= (p.Ser343=)
7g.117540169A>CCA457448617CFTRc.939A>C (p.Ser313=)
c.*836A>C (n.*836A>C)
c.*763A>C (n.*763A>C)
c.696A>C (p.Ser232=)
c.849A>C (p.Ser283=)
c.1029A>C (p.Ser343=)
 dbSNP gnomAD v2 gnomAD v4
7g.117540169A>GCA4450867CFTRc.939A>G (p.Ser313=)
c.*836A>G (n.*836A>G)
c.*763A>G (n.*763A>G)
c.696A>G (p.Ser232=)
c.849A>G (p.Ser283=)
c.1029A>G (p.Ser343=)
 dbSNP ExAC
7g.117540169A>TCA457448620CFTRc.939A>T (p.Ser313=)
c.*836A>T (n.*836A>T)
c.*763A>T (n.*763A>T)
c.696A>T (p.Ser232=)
c.849A>T (p.Ser283=)
c.1029A>T (p.Ser343=)
7g.117540170G>ACA368978359CFTRc.940G>A (p.Gly314Arg)
c.*837G>A (n.*837G>A)
c.*764G>A (n.*764G>A)
c.697G>A (p.Gly233Arg)
c.850G>A (p.Gly284Arg)
c.1030G>A (p.Gly344Arg)
7g.117540170G>CCA327695CFTRc.940G>C (p.Gly314Arg)
c.*837G>C (n.*837G>C)
c.*764G>C (n.*764G>C)
c.697G>C (p.Gly233Arg)
c.850G>C (p.Gly284Arg)
c.1030G>C (p.Gly344Arg)
 ClinVar dbSNP
7g.117540170G=CA1737331904CFTRc.940G= (p.Gly314=)
c.*837G= (n.*837G=)
c.*764G= (n.*764G=)
c.697G= (p.Gly233=)
c.850G= (p.Gly284=)
c.1030G= (p.Gly344=)
7g.117540170G>TCA368978360CFTRc.940G>T (p.Gly314Trp)
c.*837G>T (n.*837G>T)
c.*764G>T (n.*764G>T)
c.697G>T (p.Gly233Trp)
c.850G>T (p.Gly284Trp)
c.1030G>T (p.Gly344Trp)
 ClinVar dbSNP
7g.117540171G>ACA327696CFTRc.941G>A (p.Gly314Glu)
c.*838G>A (n.*838G>A)
c.*765G>A (n.*765G>A)
c.698G>A (p.Gly233Glu)
c.851G>A (p.Gly284Glu)
c.1031G>A (p.Gly344Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117540171G>CCA368978366CFTRc.941G>C (p.Gly314Ala)
c.*838G>C (n.*838G>C)
c.*765G>C (n.*765G>C)
c.698G>C (p.Gly233Ala)
c.851G>C (p.Gly284Ala)
c.1031G>C (p.Gly344Ala)
 ClinVar dbSNP gnomAD v4
7g.117540171G=CA1737331911CFTRc.941G= (p.Gly314=)
c.*838G= (n.*838G=)
c.*765G= (n.*765G=)
c.698G= (p.Gly233=)
c.851G= (p.Gly284=)
c.1031G= (p.Gly344=)
7g.117540171G>TCA327697CFTRc.941G>T (p.Gly314Val)
c.*838G>T (n.*838G>T)
c.*765G>T (n.*765G>T)
c.698G>T (p.Gly233Val)
c.851G>T (p.Gly284Val)
c.1031G>T (p.Gly344Val)
 ClinVar dbSNP
7g.117540172G>ACA457448623CFTRc.942G>A (p.Gly314=)
c.*839G>A (n.*839G>A)
c.*766G>A (n.*766G>A)
c.699G>A (p.Gly233=)
c.852G>A (p.Gly284=)
c.1032G>A (p.Gly344=)
7g.117540172G>CCA457448625CFTRc.942G>C (p.Gly314=)
c.*839G>C (n.*839G>C)
c.*766G>C (n.*766G>C)
c.699G>C (p.Gly233=)
c.852G>C (p.Gly284=)
c.1032G>C (p.Gly344=)
7g.117540172G=CA1737331917CFTRc.942G= (p.Gly314=)
c.*839G= (n.*839G=)
c.*766G= (n.*766G=)
c.699G= (p.Gly233=)
c.852G= (p.Gly284=)
c.1032G= (p.Gly344=)
7g.117540172G>TCA457448626CFTRc.942G>T (p.Gly314=)
c.*839G>T (n.*839G>T)
c.*766G>T (n.*766G>T)
c.699G>T (p.Gly233=)
c.852G>T (p.Gly284=)
c.1032G>T (p.Gly344=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117540173T>ACA368978379CFTRc.943T>A (p.Phe315Ile)
c.*840T>A (n.*840T>A)
c.*767T>A (n.*767T>A)
c.700T>A (p.Phe234Ile)
c.853T>A (p.Phe285Ile)
c.1033T>A (p.Phe345Ile)
7g.117540173T>CCA368978381CFTRc.943T>C (p.Phe315Leu)
c.*840T>C (n.*840T>C)
c.*767T>C (n.*767T>C)
c.700T>C (p.Phe234Leu)
c.853T>C (p.Phe285Leu)
c.1033T>C (p.Phe345Leu)
7g.117540173T>GCA368978384CFTRc.943T>G (p.Phe315Val)
c.*840T>G (n.*840T>G)
c.*767T>G (n.*767T>G)
c.700T>G (p.Phe234Val)
c.853T>G (p.Phe285Val)
c.1033T>G (p.Phe345Val)
7g.117540174T>ACA368978388CFTRc.944T>A (p.Phe315Tyr)
c.*841T>A (n.*841T>A)
c.*768T>A (n.*768T>A)
c.701T>A (p.Phe234Tyr)
c.854T>A (p.Phe285Tyr)
c.1034T>A (p.Phe345Tyr)
7g.117540174T>CCA4450868CFTRc.944T>C (p.Phe315Ser)
c.*841T>C (n.*841T>C)
c.*768T>C (n.*768T>C)
c.701T>C (p.Phe234Ser)
c.854T>C (p.Phe285Ser)
c.1034T>C (p.Phe345Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117540174T>GCA368978393CFTRc.944T>G (p.Phe315Cys)
c.*841T>G (n.*841T>G)
c.*768T>G (n.*768T>G)
c.701T>G (p.Phe234Cys)
c.854T>G (p.Phe285Cys)
c.1034T>G (p.Phe345Cys)
 ClinVar
7g.117540174T=CA1737331919CFTRc.944T= (p.Phe315=)
c.*841T= (n.*841T=)
c.*768T= (n.*768T=)
c.701T= (p.Phe234=)
c.854T= (p.Phe285=)
c.1034T= (p.Phe345=)
7g.117540175C>ACA368978399CFTRc.945C>A (p.Phe315Leu)
c.*842C>A (n.*842C>A)
c.*769C>A (n.*769C>A)
c.702C>A (p.Phe234Leu)
c.855C>A (p.Phe285Leu)
c.1035C>A (p.Phe345Leu)
7g.117540175C=CA1737331925CFTRc.945C= (p.Phe315=)
c.*842C= (n.*842C=)
c.*769C= (n.*769C=)
c.702C= (p.Phe234=)
c.855C= (p.Phe285=)
c.1035C= (p.Phe345=)
7g.117540175C>GCA368978397CFTRc.945C>G (p.Phe315Leu)
c.*842C>G (n.*842C>G)
c.*769C>G (n.*769C>G)
c.702C>G (p.Phe234Leu)
c.855C>G (p.Phe285Leu)
c.1035C>G (p.Phe345Leu)
 dbSNP
7g.117540175C>TCA457448629CFTRc.945C>T (p.Phe315=)
c.*842C>T (n.*842C>T)
c.*769C>T (n.*769C>T)
c.702C>T (p.Phe234=)
c.855C>T (p.Phe285=)
c.1035C>T (p.Phe345=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.117540175_117540176delinsCTCA1737331923CFTRc.945_946delinsCT (p.Phe315=)
c.*842_*843delinsCT (n.*842_*843delinsCT)
c.*769_*770delinsCT (n.*769_*770delinsCT)
c.702_703delinsCT (p.Phe234=)
c.855_856delinsCT (p.Phe285=)
c.1035_1036delinsCT (p.Phe345=)
7g.117540176T>ACA368978421CFTRc.946T>A (p.Phe316Ile)
c.*843T>A (n.*843T>A)
c.*770T>A (n.*770T>A)
c.703T>A (p.Phe235Ile)
c.856T>A (p.Phe286Ile)
c.1036T>A (p.Phe346Ile)
7g.117540176T>CCA368978420CFTRc.946T>C (p.Phe316Leu)
c.*843T>C (n.*843T>C)
c.*770T>C (n.*770T>C)
c.703T>C (p.Phe235Leu)
c.856T>C (p.Phe286Leu)
c.1036T>C (p.Phe346Leu)
7g.117540176T>GCA368978419CFTRc.946T>G (p.Phe316Val)
c.*843T>G (n.*843T>G)
c.*770T>G (n.*770T>G)
c.703T>G (p.Phe235Val)
c.856T>G (p.Phe286Val)
c.1036T>G (p.Phe346Val)
7g.117540178dupCA164953544CFTRc.948dup (p.Val317CysfsTer?)
c.*845dup (n.*845dup)
c.*772dup (n.*772dup)
c.705dup (p.Val236CysfsTer?)
c.858dup (p.Val287CysfsTer?)
c.1038dup (p.Val347CysfsTer?)
 ClinVar
7g.117540178delCA221039CFTRc.948del (p.Phe316LeufsTer12)
c.*845del (n.*845del)
c.*772del (n.*772del)
c.705del (p.Phe235LeufsTer12)
c.858del (p.Phe286LeufsTer12)
c.1038del (p.Phe346LeufsTer12)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117540177T>ACA368978423CFTRc.947T>A (p.Phe316Tyr)
c.*844T>A (n.*844T>A)
c.*771T>A (n.*771T>A)
c.704T>A (p.Phe235Tyr)
c.857T>A (p.Phe286Tyr)
c.1037T>A (p.Phe346Tyr)
 ClinVar dbSNP
7g.117540177T>CCA164953556CFTRc.947T>C (p.Phe316Ser)
c.*844T>C (n.*844T>C)
c.*771T>C (n.*771T>C)
c.704T>C (p.Phe235Ser)
c.857T>C (p.Phe286Ser)
c.1037T>C (p.Phe346Ser)
 ClinVar dbSNP
7g.117540177T>GCA368978425CFTRc.947T>G (p.Phe316Cys)
c.*844T>G (n.*844T>G)
c.*771T>G (n.*771T>G)
c.704T>G (p.Phe235Cys)
c.857T>G (p.Phe286Cys)
c.1037T>G (p.Phe346Cys)
7g.117540177T=CA1737331933CFTRc.947T= (p.Phe316=)
c.*844T= (n.*844T=)
c.*771T= (n.*771T=)
c.704T= (p.Phe235=)
c.857T= (p.Phe286=)
c.1037T= (p.Phe346=)
7g.117540178T>ACA368978427CFTRc.948T>A (p.Phe316Leu)
c.*845T>A (n.*845T>A)
c.*772T>A (n.*772T>A)
c.705T>A (p.Phe235Leu)
c.858T>A (p.Phe286Leu)
c.1038T>A (p.Phe346Leu)
7g.117540178T>CCA457448630CFTRc.948T>C (p.Phe316=)
c.*845T>C (n.*845T>C)
c.*772T>C (n.*772T>C)
c.705T>C (p.Phe235=)
c.858T>C (p.Phe286=)
c.1038T>C (p.Phe346=)
7g.117540178T>GCA10603955CFTRc.948T>G (p.Phe316Leu)
c.*845T>G (n.*845T>G)
c.*772T>G (n.*772T>G)
c.705T>G (p.Phe235Leu)
c.858T>G (p.Phe286Leu)
c.1038T>G (p.Phe346Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117540178T=CA1737331938CFTRc.948T= (p.Phe316=)
c.*845T= (n.*845T=)
c.*772T= (n.*772T=)
c.705T= (p.Phe235=)
c.858T= (p.Phe286=)
c.1038T= (p.Phe346=)
7g.117540179G>ACA368978429CFTRc.949G>A (p.Val317Met)
c.*846G>A (n.*846G>A)
c.*773G>A (n.*773G>A)
c.706G>A (p.Val236Met)
c.859G>A (p.Val287Met)
c.1039G>A (p.Val347Met)
 ClinVar gnomAD v4
7g.117540179G>CCA368978431CFTRc.949G>C (p.Val317Leu)
c.*846G>C (n.*846G>C)
c.*773G>C (n.*773G>C)
c.706G>C (p.Val236Leu)
c.859G>C (p.Val287Leu)
c.1039G>C (p.Val347Leu)
7g.117540179G>TCA368978434CFTRc.949G>T (p.Val317Leu)
c.*846G>T (n.*846G>T)
c.*773G>T (n.*773G>T)
c.706G>T (p.Val236Leu)
c.859G>T (p.Val287Leu)
c.1039G>T (p.Val347Leu)
7g.117540180T>ACA368978447CFTRc.950T>A (p.Val317Glu)
c.*847T>A (n.*847T>A)
c.*774T>A (n.*774T>A)
c.707T>A (p.Val236Glu)
c.860T>A (p.Val287Glu)
c.1040T>A (p.Val347Glu)
 ClinVar dbSNP gnomAD v4
7g.117540180T>CCA368978444CFTRc.950T>C (p.Val317Ala)
c.*847T>C (n.*847T>C)
c.*774T>C (n.*774T>C)
c.707T>C (p.Val236Ala)
c.860T>C (p.Val287Ala)
c.1040T>C (p.Val347Ala)
 ClinVar dbSNP gnomAD v4
7g.117540180T>GCA368978446CFTRc.950T>G (p.Val317Gly)
c.*847T>G (n.*847T>G)
c.*774T>G (n.*774T>G)
c.707T>G (p.Val236Gly)
c.860T>G (p.Val287Gly)
c.1040T>G (p.Val347Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117540180T=CA1737331942CFTRc.950T= (p.Val317=)
c.*847T= (n.*847T=)
c.*774T= (n.*774T=)
c.707T= (p.Val236=)
c.860T= (p.Val287=)
c.1040T= (p.Val347=)
7g.117540181G>ACA457448633CFTRc.951G>A (p.Val317=)
c.*848G>A (n.*848G>A)
c.*775G>A (n.*775G>A)
c.708G>A (p.Val236=)
c.861G>A (p.Val287=)
c.1041G>A (p.Val347=)
 gnomAD v4
7g.117540181G>CCA457448634CFTRc.951G>C (p.Val317=)
c.*848G>C (n.*848G>C)
c.*775G>C (n.*775G>C)
c.708G>C (p.Val236=)
c.861G>C (p.Val287=)
c.1041G>C (p.Val347=)
7g.117540181G>TCA457448635CFTRc.951G>T (p.Val317=)
c.*848G>T (n.*848G>T)
c.*775G>T (n.*775G>T)
c.708G>T (p.Val236=)
c.861G>T (p.Val287=)
c.1041G>T (p.Val347=)
7g.117540182G>ACA368978450CFTRc.952G>A (p.Val318Met)
c.*849G>A (n.*849G>A)
c.*776G>A (n.*776G>A)
c.709G>A (p.Val237Met)
c.862G>A (p.Val288Met)
c.1042G>A (p.Val348Met)
7g.117540182G>CCA368978454CFTRc.952G>C (p.Val318Leu)
c.*849G>C (n.*849G>C)
c.*776G>C (n.*776G>C)
c.709G>C (p.Val237Leu)
c.862G>C (p.Val288Leu)
c.1042G>C (p.Val348Leu)
7g.117540182G>TCA368978455CFTRc.952G>T (p.Val318Leu)
c.*849G>T (n.*849G>T)
c.*776G>T (n.*776G>T)
c.709G>T (p.Val237Leu)
c.862G>T (p.Val288Leu)
c.1042G>T (p.Val348Leu)
7g.117540183T>ACA368978457CFTRc.953T>A (p.Val318Glu)
c.*850T>A (n.*850T>A)
c.*777T>A (n.*777T>A)
c.710T>A (p.Val237Glu)
c.863T>A (p.Val288Glu)
c.1043T>A (p.Val348Glu)
7g.117540183T>CCA368978460CFTRc.953T>C (p.Val318Ala)
c.*850T>C (n.*850T>C)
c.*777T>C (n.*777T>C)
c.710T>C (p.Val237Ala)
c.863T>C (p.Val288Ala)
c.1043T>C (p.Val348Ala)
7g.117540183T>GCA368978462CFTRc.953T>G (p.Val318Gly)
c.*850T>G (n.*850T>G)
c.*777T>G (n.*777T>G)
c.710T>G (p.Val237Gly)
c.863T>G (p.Val288Gly)
c.1043T>G (p.Val348Gly)
7g.117540184G>ACA4450869CFTRc.954G>A (p.Val318=)
c.*851G>A (n.*851G>A)
c.*778G>A (n.*778G>A)
c.711G>A (p.Val237=)
c.864G>A (p.Val288=)
c.1044G>A (p.Val348=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117540184G>CCA457448639CFTRc.954G>C (p.Val318=)
c.*851G>C (n.*851G>C)
c.*778G>C (n.*778G>C)
c.711G>C (p.Val237=)
c.864G>C (p.Val288=)
c.1044G>C (p.Val348=)
7g.117540184G=CA1737331950CFTRc.954G= (p.Val318=)
c.*851G= (n.*851G=)
c.*778G= (n.*778G=)
c.711G= (p.Val237=)
c.864G= (p.Val288=)
c.1044G= (p.Val348=)
7g.117540184G>TCA457448638CFTRc.954G>T (p.Val318=)
c.*851G>T (n.*851G>T)
c.*778G>T (n.*778G>T)
c.711G>T (p.Val237=)
c.864G>T (p.Val288=)
c.1044G>T (p.Val348=)
7g.117540184_117540185delinsGTCA1737331953CFTRc.954_955delinsGT (p.Val318=)
c.*851_*852delinsGT (n.*851_*852delinsGT)
c.*778_*779delinsGT (n.*778_*779delinsGT)
c.711_712delinsGT (p.Val237=)
c.864_865delinsGT (p.Val288=)
c.1044_1045delinsGT (p.Val348=)
7g.117540185T>ACA368978467CFTRc.955T>A (p.Phe319Ile)
c.*852T>A (n.*852T>A)
c.*779T>A (n.*779T>A)
c.712T>A (p.Phe238Ile)
c.865T>A (p.Phe289Ile)
c.1045T>A (p.Phe349Ile)
7g.117540185T>CCA368978470CFTRc.955T>C (p.Phe319Leu)
c.*852T>C (n.*852T>C)
c.*779T>C (n.*779T>C)
c.712T>C (p.Phe238Leu)
c.865T>C (p.Phe289Leu)
c.1045T>C (p.Phe349Leu)
7g.117540185T>GCA368978471CFTRc.955T>G (p.Phe319Val)
c.*852T>G (n.*852T>G)
c.*779T>G (n.*779T>G)
c.712T>G (p.Phe238Val)
c.865T>G (p.Phe289Val)
c.1045T>G (p.Phe349Val)
7g.117540189delCA915945467CFTRc.959del (p.Leu320TyrfsTer8)
c.*856del (n.*856del)
c.*783del (n.*783del)
c.716del (p.Leu239TyrfsTer8)
c.869del (p.Leu290TyrfsTer8)
c.1049del (p.Leu350TyrfsTer8)
 ClinVar dbSNP
7g.117540186T>ACA368978473CFTRc.956T>A (p.Phe319Tyr)
c.*853T>A (n.*853T>A)
c.*780T>A (n.*780T>A)
c.713T>A (p.Phe238Tyr)
c.866T>A (p.Phe289Tyr)
c.1046T>A (p.Phe349Tyr)
7g.117540186T>CCA368978476CFTRc.956T>C (p.Phe319Ser)
c.*853T>C (n.*853T>C)
c.*780T>C (n.*780T>C)
c.713T>C (p.Phe238Ser)
c.866T>C (p.Phe289Ser)
c.1046T>C (p.Phe349Ser)
7g.117540186T>GCA368978478CFTRc.956T>G (p.Phe319Cys)
c.*853T>G (n.*853T>G)
c.*780T>G (n.*780T>G)
c.713T>G (p.Phe238Cys)
c.866T>G (p.Phe289Cys)
c.1046T>G (p.Phe349Cys)
7g.117540187T>ACA368978479CFTRc.957T>A (p.Phe319Leu)
c.*854T>A (n.*854T>A)
c.*781T>A (n.*781T>A)
c.714T>A (p.Phe238Leu)
c.867T>A (p.Phe289Leu)
c.1047T>A (p.Phe349Leu)
7g.117540187T>CCA457448643CFTRc.957T>C (p.Phe319=)
c.*854T>C (n.*854T>C)
c.*781T>C (n.*781T>C)
c.714T>C (p.Phe238=)
c.867T>C (p.Phe289=)
c.1047T>C (p.Phe349=)
7g.117540187T>GCA368978482CFTRc.957T>G (p.Phe319Leu)
c.*854T>G (n.*854T>G)
c.*781T>G (n.*781T>G)
c.714T>G (p.Phe238Leu)
c.867T>G (p.Phe289Leu)
c.1047T>G (p.Phe349Leu)
7g.117540188T>ACA368978483CFTRc.958T>A (p.Leu320Ile)
c.*855T>A (n.*855T>A)
c.*782T>A (n.*782T>A)
c.715T>A (p.Leu239Ile)
c.868T>A (p.Leu290Ile)
c.1048T>A (p.Leu350Ile)
7g.117540188T>CCA457448644CFTRc.958T>C (p.Leu320=)
c.*855T>C (n.*855T>C)
c.*782T>C (n.*782T>C)
c.715T>C (p.Leu239=)
c.868T>C (p.Leu290=)
c.1048T>C (p.Leu350=)
7g.117540188T>GCA325718CFTRc.958T>G (p.Leu320Val)
c.*855T>G (n.*855T>G)
c.*782T>G (n.*782T>G)
c.715T>G (p.Leu239Val)
c.868T>G (p.Leu290Val)
c.1048T>G (p.Leu350Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117540188T=CA1737331960CFTRc.958T= (p.Leu320=)
c.*855T= (n.*855T=)
c.*782T= (n.*782T=)
c.715T= (p.Leu239=)
c.868T= (p.Leu290=)
c.1048T= (p.Leu350=)
7g.117540189T>ACA327699CFTRc.959T>A (p.Leu320Ter)
c.*856T>A (n.*856T>A)
c.*783T>A (n.*783T>A)
c.716T>A (p.Leu239Ter)
c.869T>A (p.Leu290Ter)
c.1049T>A (p.Leu350Ter)
 ClinVar dbSNP
7g.117540189T>CCA368978486CFTRc.959T>C (p.Leu320Ser)
c.*856T>C (n.*856T>C)
c.*783T>C (n.*783T>C)
c.716T>C (p.Leu239Ser)
c.869T>C (p.Leu290Ser)
c.1049T>C (p.Leu350Ser)
 gnomAD v4
7g.117540189T>GCA368978484CFTRc.959T>G (p.Leu320Ter)
c.*856T>G (n.*856T>G)
c.*783T>G (n.*783T>G)
c.716T>G (p.Leu239Ter)
c.869T>G (p.Leu290Ter)
c.1049T>G (p.Leu350Ter)
7g.117540189T=CA1737331965CFTRc.959T= (p.Leu320=)
c.*856T= (n.*856T=)
c.*783T= (n.*783T=)
c.716T= (p.Leu239=)
c.869T= (p.Leu290=)
c.1049T= (p.Leu350=)
7g.117540190A=CA1737331973CFTRc.960A= (p.Leu320=)
c.*857A= (n.*857A=)
c.*784A= (n.*784A=)
c.717A= (p.Leu239=)
c.870A= (p.Leu290=)
c.1050A= (p.Leu350=)
7g.117540190A>CCA368978487CFTRc.960A>C (p.Leu320Phe)
c.*857A>C (n.*857A>C)
c.*784A>C (n.*784A>C)
c.717A>C (p.Leu239Phe)
c.870A>C (p.Leu290Phe)
c.1050A>C (p.Leu350Phe)
 ClinVar dbSNP gnomAD v4
7g.117540190A>GCA10605106CFTRc.960A>G (p.Leu320=)
c.*857A>G (n.*857A>G)
c.*784A>G (n.*784A>G)
c.717A>G (p.Leu239=)
c.870A>G (p.Leu290=)
c.1050A>G (p.Leu350=)
 ClinVar dbSNP gnomAD v4
7g.117540190A>TCA327703CFTRc.960A>T (p.Leu320Phe)
c.*857A>T (n.*857A>T)
c.*784A>T (n.*784A>T)
c.717A>T (p.Leu239Phe)
c.870A>T (p.Leu290Phe)
c.1050A>T (p.Leu350Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117540190dupCA2580076446CFTRc.960dup (p.Ser321IlefsTer?)
c.*857dup (n.*857dup)
c.*784dup (n.*784dup)
c.717dup (p.Ser240IlefsTer?)
c.870dup (p.Ser291IlefsTer?)
c.1050dup (p.Ser351IlefsTer?)
 ClinVar
7g.117540191T>ACA368978499CFTRc.961T>A (p.Ser321Thr)
c.*858T>A (n.*858T>A)
c.*785T>A (n.*785T>A)
c.718T>A (p.Ser240Thr)
c.871T>A (p.Ser291Thr)
c.1051T>A (p.Ser351Thr)
7g.117540191T>CCA4450870CFTRc.961T>C (p.Ser321Pro)
c.*858T>C (n.*858T>C)
c.*785T>C (n.*785T>C)
c.718T>C (p.Ser240Pro)
c.871T>C (p.Ser291Pro)
c.1051T>C (p.Ser351Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117540191T>GCA368978506CFTRc.961T>G (p.Ser321Ala)
c.*858T>G (n.*858T>G)
c.*785T>G (n.*785T>G)
c.718T>G (p.Ser240Ala)
c.871T>G (p.Ser291Ala)
c.1051T>G (p.Ser351Ala)
7g.117540191T=CA1737331976CFTRc.961T= (p.Ser321=)
c.*858T= (n.*858T=)
c.*785T= (n.*785T=)
c.718T= (p.Ser240=)
c.871T= (p.Ser291=)
c.1051T= (p.Ser351=)
7g.117540192delCA2580076447CFTRc.962del (p.Ser321LeufsTer7)
c.*859del (n.*859del)
c.*786del (n.*786del)
c.719del (p.Ser240LeufsTer7)
c.872del (p.Ser291LeufsTer7)
c.1052del (p.Ser351LeufsTer7)
 ClinVar
7g.117540192C>ACA368978509CFTRc.962C>A (p.Ser321Tyr)
c.*859C>A (n.*859C>A)
c.*786C>A (n.*786C>A)
c.719C>A (p.Ser240Tyr)
c.872C>A (p.Ser291Tyr)
c.1052C>A (p.Ser351Tyr)
7g.117540192C=CA1737331980CFTRc.962C= (p.Ser321=)
c.*859C= (n.*859C=)
c.*786C= (n.*786C=)
c.719C= (p.Ser240=)
c.872C= (p.Ser291=)
c.1052C= (p.Ser351=)
7g.117540192C>GCA368978510CFTRc.962C>G (p.Ser321Cys)
c.*859C>G (n.*859C>G)
c.*786C>G (n.*786C>G)
c.719C>G (p.Ser240Cys)
c.872C>G (p.Ser291Cys)
c.1052C>G (p.Ser351Cys)
 ClinVar dbSNP
7g.117540192C>TCA368978511CFTRc.962C>T (p.Ser321Phe)
c.*859C>T (n.*859C>T)
c.*786C>T (n.*786C>T)
c.719C>T (p.Ser240Phe)
c.872C>T (p.Ser291Phe)
c.1052C>T (p.Ser351Phe)
 COSMIC
7g.117540193T>ACA457448649CFTRc.963T>A (p.Ser321=)
c.*860T>A (n.*860T>A)
c.*787T>A (n.*787T>A)
c.720T>A (p.Ser240=)
c.873T>A (p.Ser291=)
c.1053T>A (p.Ser351=)
7g.117540193T>CCA4450871CFTRc.963T>C (p.Ser321=)
c.*860T>C (n.*860T>C)
c.*787T>C (n.*787T>C)
c.720T>C (p.Ser240=)
c.873T>C (p.Ser291=)
c.1053T>C (p.Ser351=)
 dbSNP ExAC gnomAD v2
7g.117540193T>GCA457448650CFTRc.963T>G (p.Ser321=)
c.*860T>G (n.*860T>G)
c.*787T>G (n.*787T>G)
c.720T>G (p.Ser240=)
c.873T>G (p.Ser291=)
c.1053T>G (p.Ser351=)
 COSMIC
7g.117540193T=CA1737331984CFTRc.963T= (p.Ser321=)
c.*860T= (n.*860T=)
c.*787T= (n.*787T=)
c.720T= (p.Ser240=)
c.873T= (p.Ser291=)
c.1053T= (p.Ser351=)
7g.117540194G>ACA132755CFTRc.964G>A (p.Val322Met)
c.*861G>A (n.*861G>A)
c.*788G>A (n.*788G>A)
c.721G>A (p.Val241Met)
c.874G>A (p.Val292Met)
c.1054G>A (p.Val352Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117540194G>CCA368978521CFTRc.964G>C (p.Val322Leu)
c.*861G>C (n.*861G>C)
c.*788G>C (n.*788G>C)
c.721G>C (p.Val241Leu)
c.874G>C (p.Val292Leu)
c.1054G>C (p.Val352Leu)
7g.117540194G=CA1737331991CFTRc.964G= (p.Val322=)
c.*861G= (n.*861G=)
c.*788G= (n.*788G=)
c.721G= (p.Val241=)
c.874G= (p.Val292=)
c.1054G= (p.Val352=)
7g.117540194G>TCA368978522CFTRc.964G>T (p.Val322Leu)
c.*861G>T (n.*861G>T)
c.*788G>T (n.*788G>T)
c.721G>T (p.Val241Leu)
c.874G>T (p.Val292Leu)
c.1054G>T (p.Val352Leu)
7g.117540195T>ACA368978531CFTRc.965T>A (p.Val322Glu)
c.*862T>A (n.*862T>A)
c.*789T>A (n.*789T>A)
c.722T>A (p.Val241Glu)
c.875T>A (p.Val292Glu)
c.1055T>A (p.Val352Glu)
7g.117540195T>CCA368978524CFTRc.965T>C (p.Val322Ala)
c.*862T>C (n.*862T>C)
c.*789T>C (n.*789T>C)
c.722T>C (p.Val241Ala)
c.875T>C (p.Val292Ala)
c.1055T>C (p.Val352Ala)
7g.117540195T>GCA368978527CFTRc.965T>G (p.Val322Gly)
c.*862T>G (n.*862T>G)
c.*789T>G (n.*789T>G)
c.722T>G (p.Val241Gly)
c.875T>G (p.Val292Gly)
c.1055T>G (p.Val352Gly)
7g.117540196G>ACA457448655CFTRc.966G>A (p.Val322=)
c.*863G>A (n.*863G>A)
c.*790G>A (n.*790G>A)
c.723G>A (p.Val241=)
c.876G>A (p.Val292=)
c.1056G>A (p.Val352=)
7g.117540196G>CCA457448656CFTRc.966G>C (p.Val322=)
c.*863G>C (n.*863G>C)
c.*790G>C (n.*790G>C)
c.723G>C (p.Val241=)
c.876G>C (p.Val292=)
c.1056G>C (p.Val352=)
 ClinVar dbSNP
7g.117540196G>TCA457448657CFTRc.966G>T (p.Val322=)
c.*863G>T (n.*863G>T)
c.*790G>T (n.*790G>T)
c.723G>T (p.Val241=)
c.876G>T (p.Val292=)
c.1056G>T (p.Val352=)
7g.117540197C>ACA368978533CFTRc.967C>A (p.Leu323Ile)
c.*864C>A (n.*864C>A)
c.*791C>A (n.*791C>A)
c.724C>A (p.Leu242Ile)
c.877C>A (p.Leu293Ile)
c.1057C>A (p.Leu353Ile)
7g.117540197C>GCA368978535CFTRc.967C>G (p.Leu323Val)
c.*864C>G (n.*864C>G)
c.*791C>G (n.*791C>G)
c.724C>G (p.Leu242Val)
c.877C>G (p.Leu293Val)
c.1057C>G (p.Leu353Val)
7g.117540197C>TCA368978537CFTRc.967C>T (p.Leu323Phe)
c.*864C>T (n.*864C>T)
c.*791C>T (n.*791C>T)
c.724C>T (p.Leu242Phe)
c.877C>T (p.Leu293Phe)
c.1057C>T (p.Leu353Phe)
7g.117540198T>ACA368978541CFTRc.968T>A (p.Leu323His)
c.*865T>A (n.*865T>A)
c.*792T>A (n.*792T>A)
c.725T>A (p.Leu242His)
c.878T>A (p.Leu293His)
c.1058T>A (p.Leu353His)
7g.117540198T>CCA368978546CFTRc.968T>C (p.Leu323Pro)
c.*865T>C (n.*865T>C)
c.*792T>C (n.*792T>C)
c.725T>C (p.Leu242Pro)
c.878T>C (p.Leu293Pro)
c.1058T>C (p.Leu353Pro)
7g.117540198T>GCA368978547CFTRc.968T>G (p.Leu323Arg)
c.*865T>G (n.*865T>G)
c.*792T>G (n.*792T>G)
c.725T>G (p.Leu242Arg)
c.878T>G (p.Leu293Arg)
c.1058T>G (p.Leu353Arg)
7g.117540199T>ACA457448661CFTRc.969T>A (p.Leu323=)
c.*866T>A (n.*866T>A)
c.*793T>A (n.*793T>A)
c.726T>A (p.Leu242=)
c.879T>A (p.Leu293=)
c.1059T>A (p.Leu353=)
 ClinVar
7g.117540199T>CCA457448659CFTRc.969T>C (p.Leu323=)
c.*866T>C (n.*866T>C)
c.*793T>C (n.*793T>C)
c.726T>C (p.Leu242=)
c.879T>C (p.Leu293=)
c.1059T>C (p.Leu353=)
7g.117540199T>GCA457448660CFTRc.969T>G (p.Leu323=)
c.*866T>G (n.*866T>G)
c.*793T>G (n.*793T>G)
c.726T>G (p.Leu242=)
c.879T>G (p.Leu293=)
c.1059T>G (p.Leu353=)
7g.117540200C>ACA368978550CFTRc.970C>A (p.Pro324Thr)
c.*867C>A (n.*867C>A)
c.*794C>A (n.*794C>A)
c.727C>A (p.Pro243Thr)
c.880C>A (p.Pro294Thr)
c.1060C>A (p.Pro354Thr)
7g.117540200C=CA1737331997CFTRc.970C= (p.Pro324=)
c.*867C= (n.*867C=)
c.*794C= (n.*794C=)
c.727C= (p.Pro243=)
c.880C= (p.Pro294=)
c.1060C= (p.Pro354=)
7g.117540200C>GCA368978552CFTRc.970C>G (p.Pro324Ala)
c.*867C>G (n.*867C>G)
c.*794C>G (n.*794C>G)
c.727C>G (p.Pro243Ala)
c.880C>G (p.Pro294Ala)
c.1060C>G (p.Pro354Ala)
 dbSNP gnomAD v3 gnomAD v4
7g.117540200C>TCA164953594CFTRc.970C>T (p.Pro324Ser)
c.*867C>T (n.*867C>T)
c.*794C>T (n.*794C>T)
c.727C>T (p.Pro243Ser)
c.880C>T (p.Pro294Ser)
c.1060C>T (p.Pro354Ser)
 dbSNP COSMIC
7g.117540202delCA2580076450CFTRc.972del (p.Tyr325MetfsTer3)
c.*869del (n.*869del)
c.*796del (n.*796del)
c.729del (p.Tyr244MetfsTer3)
c.882del (p.Tyr295MetfsTer3)
c.1062del (p.Tyr355MetfsTer3)
 ClinVar
7g.117540201C>ACA368978554CFTRc.971C>A (p.Pro324His)
c.*868C>A (n.*868C>A)
c.*795C>A (n.*795C>A)
c.728C>A (p.Pro243His)
c.881C>A (p.Pro294His)
c.1061C>A (p.Pro354His)
7g.117540201C=CA1737332003CFTRc.971C= (p.Pro324=)
c.*868C= (n.*868C=)
c.*795C= (n.*795C=)
c.728C= (p.Pro243=)
c.881C= (p.Pro294=)
c.1061C= (p.Pro354=)
7g.117540201C>GCA368978556CFTRc.971C>G (p.Pro324Arg)
c.*868C>G (n.*868C>G)
c.*795C>G (n.*795C>G)
c.728C>G (p.Pro243Arg)
c.881C>G (p.Pro294Arg)
c.1061C>G (p.Pro354Arg)
7g.117540201C>TCA327705CFTRc.971C>T (p.Pro324Leu)
c.*868C>T (n.*868C>T)
c.*795C>T (n.*795C>T)
c.728C>T (p.Pro243Leu)
c.881C>T (p.Pro294Leu)
c.1061C>T (p.Pro354Leu)
 ClinVar dbSNP gnomAD v4
7g.117540202C>ACA457448663CFTRc.972C>A (p.Pro324=)
c.*869C>A (n.*869C>A)
c.*796C>A (n.*796C>A)
c.729C>A (p.Pro243=)
c.882C>A (p.Pro294=)
c.1062C>A (p.Pro354=)
7g.117540202C=CA1737332010CFTRc.972C= (p.Pro324=)
c.*869C= (n.*869C=)
c.*796C= (n.*796C=)
c.729C= (p.Pro243=)
c.882C= (p.Pro294=)
c.1062C= (p.Pro354=)
7g.117540202C>GCA4450872CFTRc.972C>G (p.Pro324=)
c.*869C>G (n.*869C>G)
c.*796C>G (n.*796C>G)
c.729C>G (p.Pro243=)
c.882C>G (p.Pro294=)
c.1062C>G (p.Pro354=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117540202C>TCA457448664CFTRc.972C>T (p.Pro324=)
c.*869C>T (n.*869C>T)
c.*796C>T (n.*796C>T)
c.729C>T (p.Pro243=)
c.882C>T (p.Pro294=)
c.1062C>T (p.Pro354=)
7g.117540203T>ACA368978567CFTRc.973T>A (p.Tyr325Asn)
c.*870T>A (n.*870T>A)
c.*797T>A (n.*797T>A)
c.730T>A (p.Tyr244Asn)
c.883T>A (p.Tyr295Asn)
c.1063T>A (p.Tyr355Asn)
7g.117540203T>CCA368978561CFTRc.973T>C (p.Tyr325His)
c.*870T>C (n.*870T>C)
c.*797T>C (n.*797T>C)
c.730T>C (p.Tyr244His)
c.883T>C (p.Tyr295His)
c.1063T>C (p.Tyr355His)
7g.117540203T>GCA368978566CFTRc.973T>G (p.Tyr325Asp)
c.*870T>G (n.*870T>G)
c.*797T>G (n.*797T>G)
c.730T>G (p.Tyr244Asp)
c.883T>G (p.Tyr295Asp)
c.1063T>G (p.Tyr355Asp)
7g.117540204A=CA1737332019CFTRc.974A= (p.Tyr325=)
c.*871A= (n.*871A=)
c.*798A= (n.*798A=)
c.731A= (p.Tyr244=)
c.884A= (p.Tyr295=)
c.1064A= (p.Tyr355=)
7g.117540204A>CCA368978568CFTRc.974A>C (p.Tyr325Ser)
c.*871A>C (n.*871A>C)
c.*798A>C (n.*798A>C)
c.731A>C (p.Tyr244Ser)
c.884A>C (p.Tyr295Ser)
c.1064A>C (p.Tyr355Ser)
7g.117540204A>GCA4450873CFTRc.974A>G (p.Tyr325Cys)
c.*871A>G (n.*871A>G)
c.*798A>G (n.*798A>G)
c.731A>G (p.Tyr244Cys)
c.884A>G (p.Tyr295Cys)
c.1064A>G (p.Tyr355Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117540204A>TCA368978578CFTRc.974A>T (p.Tyr325Phe)
c.*871A>T (n.*871A>T)
c.*798A>T (n.*798A>T)
c.731A>T (p.Tyr244Phe)
c.884A>T (p.Tyr295Phe)
c.1064A>T (p.Tyr355Phe)
7g.117540205T>ACA368978581CFTRc.975T>A (p.Tyr325Ter)
c.*872T>A (n.*872T>A)
c.*799T>A (n.*799T>A)
c.732T>A (p.Tyr244Ter)
c.885T>A (p.Tyr295Ter)
c.1065T>A (p.Tyr355Ter)
7g.117540205T>CCA457448668CFTRc.975T>C (p.Tyr325=)
c.*872T>C (n.*872T>C)
c.*799T>C (n.*799T>C)
c.732T>C (p.Tyr244=)
c.885T>C (p.Tyr295=)
c.1065T>C (p.Tyr355=)
7g.117540205T>GCA368978586CFTRc.975T>G (p.Tyr325Ter)
c.*872T>G (n.*872T>G)
c.*799T>G (n.*799T>G)
c.732T>G (p.Tyr244Ter)
c.885T>G (p.Tyr295Ter)
c.1065T>G (p.Tyr355Ter)
7g.117540206G>ACA368978589CFTRc.976G>A (p.Ala326Thr)
c.*873G>A (n.*873G>A)
c.*800G>A (n.*800G>A)
c.733G>A (p.Ala245Thr)
c.886G>A (p.Ala296Thr)
c.1066G>A (p.Ala356Thr)
7g.117540206G>CCA368978590CFTRc.976G>C (p.Ala326Pro)
c.*873G>C (n.*873G>C)
c.*800G>C (n.*800G>C)
c.733G>C (p.Ala245Pro)
c.886G>C (p.Ala296Pro)
c.1066G>C (p.Ala356Pro)
7g.117540206G>TCA368978591CFTRc.976G>T (p.Ala326Ser)
c.*873G>T (n.*873G>T)
c.*800G>T (n.*800G>T)
c.733G>T (p.Ala245Ser)
c.886G>T (p.Ala296Ser)
c.1066G>T (p.Ala356Ser)
 ClinVar
7g.117540207C>ACA368978595CFTRc.977C>A (p.Ala326Glu)
c.*874C>A (n.*874C>A)
c.*801C>A (n.*801C>A)
c.734C>A (p.Ala245Glu)
c.887C>A (p.Ala296Glu)
c.1067C>A (p.Ala356Glu)
7g.117540207C=CA1737332027CFTRc.977C= (p.Ala326=)
c.*874C= (n.*874C=)
c.*801C= (n.*801C=)
c.734C= (p.Ala245=)
c.887C= (p.Ala296=)
c.1067C= (p.Ala356=)
7g.117540207C>GCA368978599CFTRc.977C>G (p.Ala326Gly)
c.*874C>G (n.*874C>G)
c.*801C>G (n.*801C>G)
c.734C>G (p.Ala245Gly)
c.887C>G (p.Ala296Gly)
c.1067C>G (p.Ala356Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117540207C>TCA368978601CFTRc.977C>T (p.Ala326Val)
c.*874C>T (n.*874C>T)
c.*801C>T (n.*801C>T)
c.734C>T (p.Ala245Val)
c.887C>T (p.Ala296Val)
c.1067C>T (p.Ala356Val)
 ClinVar dbSNP
7g.117540208A=CA1737332034CFTRc.978A= (p.Ala326=)
c.*875A= (n.*875A=)
c.*802A= (n.*802A=)
c.735A= (p.Ala245=)
c.888A= (p.Ala296=)
c.1068A= (p.Ala356=)
7g.117540208A>CCA457448672CFTRc.978A>C (p.Ala326=)
c.*875A>C (n.*875A>C)
c.*802A>C (n.*802A>C)
c.735A>C (p.Ala245=)
c.888A>C (p.Ala296=)
c.1068A>C (p.Ala356=)
7g.117540208A>GCA4450874CFTRc.978A>G (p.Ala326=)
c.*875A>G (n.*875A>G)
c.*802A>G (n.*802A>G)
c.735A>G (p.Ala245=)
c.888A>G (p.Ala296=)
c.1068A>G (p.Ala356=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117540208A>TCA457448673CFTRc.978A>T (p.Ala326=)
c.*875A>T (n.*875A>T)
c.*802A>T (n.*802A>T)
c.735A>T (p.Ala245=)
c.888A>T (p.Ala296=)
c.1068A>T (p.Ala356=)
 ClinVar
7g.117540209C>ACA368978604CFTRc.979C>A (p.Leu327Ile)
c.*876C>A (n.*876C>A)
c.*803C>A (n.*803C>A)
c.736C>A (p.Leu246Ile)
c.889C>A (p.Leu297Ile)
c.1069C>A (p.Leu357Ile)
7g.117540209C=CA1737332044CFTRc.979C= (p.Leu327=)
c.*876C= (n.*876C=)
c.*803C= (n.*803C=)
c.736C= (p.Leu246=)
c.889C= (p.Leu297=)
c.1069C= (p.Leu357=)
7g.117540209C>GCA368978605CFTRc.979C>G (p.Leu327Val)
c.*876C>G (n.*876C>G)
c.*803C>G (n.*803C>G)
c.736C>G (p.Leu246Val)
c.889C>G (p.Leu297Val)
c.1069C>G (p.Leu357Val)
 ClinVar gnomAD v4
7g.117540209C>TCA457448730CFTRc.979C>T (p.Leu327=)
c.*876C>T (n.*876C>T)
c.*803C>T (n.*803C>T)
c.736C>T (p.Leu246=)
c.889C>T (p.Leu297=)
c.1069C>T (p.Leu357=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117540209_117540210delinsCTCA1737332040CFTRc.979_980delinsCT (p.Leu327=)
c.*876_*877delinsCT (n.*876_*877delinsCT)
c.*803_*804delinsCT (n.*803_*804delinsCT)
c.736_737delinsCT (p.Leu246=)
c.889_890delinsCT (p.Leu297=)
c.1069_1070delinsCT (p.Leu357=)
7g.117540210delCA327707CFTRc.980del (p.Leu327GlnfsTer?)
c.*877del (n.*877del)
c.*804del (n.*804del)
c.737del (p.Leu246GlnfsTer?)
c.890del (p.Leu297GlnfsTer?)
c.1070del (p.Leu357GlnfsTer?)
 ClinVar dbSNP
7g.117540210T>ACA368978606CFTRc.980T>A (p.Leu327Gln)
c.*877T>A (n.*877T>A)
c.*804T>A (n.*804T>A)
c.737T>A (p.Leu246Gln)
c.890T>A (p.Leu297Gln)
c.1070T>A (p.Leu357Gln)
7g.117540210T>CCA368978608CFTRc.980T>C (p.Leu327Pro)
c.*877T>C (n.*877T>C)
c.*804T>C (n.*804T>C)
c.737T>C (p.Leu246Pro)
c.890T>C (p.Leu297Pro)
c.1070T>C (p.Leu357Pro)
 gnomAD v4
7g.117540210T>GCA4450875CFTRc.980T>G (p.Leu327Arg)
c.*877T>G (n.*877T>G)
c.*804T>G (n.*804T>G)
c.737T>G (p.Leu246Arg)
c.890T>G (p.Leu297Arg)
c.1070T>G (p.Leu357Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117540210T=CA1737332058CFTRc.980T= (p.Leu327=)
c.*877T= (n.*877T=)
c.*804T= (n.*804T=)
c.737T= (p.Leu246=)
c.890T= (p.Leu297=)
c.1070T= (p.Leu357=)
7g.117540211A=CA1737332069CFTRc.981A= (p.Leu327=)
c.*878A= (n.*878A=)
c.*805A= (n.*805A=)
c.738A= (p.Leu246=)
c.891A= (p.Leu297=)
c.1071A= (p.Leu357=)
7g.117540211A>CCA457448731CFTRc.981A>C (p.Leu327=)
c.*878A>C (n.*878A>C)
c.*805A>C (n.*805A>C)
c.738A>C (p.Leu246=)
c.891A>C (p.Leu297=)
c.1071A>C (p.Leu357=)
7g.117540211A>GCA164953673CFTRc.981A>G (p.Leu327=)
c.*878A>G (n.*878A>G)
c.*805A>G (n.*805A>G)
c.738A>G (p.Leu246=)
c.891A>G (p.Leu297=)
c.1071A>G (p.Leu357=)
 dbSNP
7g.117540211A>TCA164953674CFTRc.981A>T (p.Leu327=)
c.*878A>T (n.*878A>T)
c.*805A>T (n.*805A>T)
c.738A>T (p.Leu246=)
c.891A>T (p.Leu297=)
c.1071A>T (p.Leu357=)
 ClinVar dbSNP gnomAD v4
7g.117540212A>CCA368978614CFTRc.982A>C (p.Ile328Leu)
c.*879A>C (n.*879A>C)
c.*806A>C (n.*806A>C)
c.739A>C (p.Ile247Leu)
c.892A>C (p.Ile298Leu)
c.1072A>C (p.Ile358Leu)
7g.117540212A>GCA368978616CFTRc.982A>G (p.Ile328Val)
c.*879A>G (n.*879A>G)
c.*806A>G (n.*806A>G)
c.739A>G (p.Ile247Val)
c.892A>G (p.Ile298Val)
c.1072A>G (p.Ile358Val)
7g.117540212A>TCA368978618CFTRc.982A>T (p.Ile328Phe)
c.*879A>T (n.*879A>T)
c.*806A>T (n.*806A>T)
c.739A>T (p.Ile247Phe)
c.892A>T (p.Ile298Phe)
c.1072A>T (p.Ile358Phe)
7g.117540213T>ACA368978620CFTRc.983T>A (p.Ile328Asn)
c.*880T>A (n.*880T>A)
c.*807T>A (n.*807T>A)
c.740T>A (p.Ile247Asn)
c.893T>A (p.Ile298Asn)
c.1073T>A (p.Ile358Asn)
7g.117540213T>CCA368978623CFTRc.983T>C (p.Ile328Thr)
c.*880T>C (n.*880T>C)
c.*807T>C (n.*807T>C)
c.740T>C (p.Ile247Thr)
c.893T>C (p.Ile298Thr)
c.1073T>C (p.Ile358Thr)
7g.117540213T>GCA368978626CFTRc.983T>G (p.Ile328Ser)
c.*880T>G (n.*880T>G)
c.*807T>G (n.*807T>G)
c.740T>G (p.Ile247Ser)
c.893T>G (p.Ile298Ser)
c.1073T>G (p.Ile358Ser)
7g.117540214C>ACA457448733CFTRc.984C>A (p.Ile328=)
c.*881C>A (n.*881C>A)
c.*808C>A (n.*808C>A)
c.741C>A (p.Ile247=)
c.894C>A (p.Ile298=)
c.1074C>A (p.Ile358=)
7g.117540214C>GCA368978628CFTRc.984C>G (p.Ile328Met)
c.*881C>G (n.*881C>G)
c.*808C>G (n.*808C>G)
c.741C>G (p.Ile247Met)
c.894C>G (p.Ile298Met)
c.1074C>G (p.Ile358Met)
7g.117540214C>TCA457448732CFTRc.984C>T (p.Ile328=)
c.*881C>T (n.*881C>T)
c.*808C>T (n.*808C>T)
c.741C>T (p.Ile247=)
c.894C>T (p.Ile298=)
c.1074C>T (p.Ile358=)
7g.117540214_117540215delinsCACA1737332075CFTRc.984_985delinsCA (p.Ile328=)
c.*881_*882delinsCA (n.*881_*882delinsCA)
c.*808_*809delinsCA (n.*808_*809delinsCA)
c.741_742delinsCA (p.Ile247=)
c.894_895delinsCA (p.Ile298=)
c.1074_1075delinsCA (p.Ile358=)
7g.117540215A>CCA368978629CFTRc.985A>C (p.Lys329Gln)
c.*882A>C (n.*882A>C)
c.*809A>C (n.*809A>C)
c.742A>C (p.Lys248Gln)
c.895A>C (p.Lys299Gln)
c.1075A>C (p.Lys359Gln)
7g.117540215A>GCA368978632CFTRc.985A>G (p.Lys329Glu)
c.*882A>G (n.*882A>G)
c.*809A>G (n.*809A>G)
c.742A>G (p.Lys248Glu)
c.895A>G (p.Lys299Glu)
c.1075A>G (p.Lys359Glu)
7g.117540215A>TCA368978634CFTRc.985A>T (p.Lys329Ter)
c.*882A>T (n.*882A>T)
c.*809A>T (n.*809A>T)
c.742A>T (p.Lys248Ter)
c.895A>T (p.Lys299Ter)
c.1075A>T (p.Lys359Ter)
7g.117540217delCA327708CFTRc.987del (p.Gly330GlufsTer?)
c.*884del (n.*884del)
c.*811del (n.*811del)
c.744del (p.Gly249GlufsTer?)
c.897del (p.Gly300GlufsTer?)
c.1077del (p.Gly360GlufsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117540216A>CCA368978637CFTRc.986A>C (p.Lys329Thr)
c.*883A>C (n.*883A>C)
c.*810A>C (n.*810A>C)
c.743A>C (p.Lys248Thr)
c.896A>C (p.Lys299Thr)
c.1076A>C (p.Lys359Thr)
7g.117540216A>GCA368978639CFTRc.986A>G (p.Lys329Arg)
c.*883A>G (n.*883A>G)
c.*810A>G (n.*810A>G)
c.743A>G (p.Lys248Arg)
c.896A>G (p.Lys299Arg)
c.1076A>G (p.Lys359Arg)
7g.117540216A>TCA368978641CFTRc.986A>T (p.Lys329Ile)
c.*883A>T (n.*883A>T)
c.*810A>T (n.*810A>T)
c.743A>T (p.Lys248Ile)
c.896A>T (p.Lys299Ile)
c.1076A>T (p.Lys359Ile)
7g.117540217A>CCA368978642CFTRc.987A>C (p.Lys329Asn)
c.*884A>C (n.*884A>C)
c.*811A>C (n.*811A>C)
c.744A>C (p.Lys248Asn)
c.897A>C (p.Lys299Asn)
c.1077A>C (p.Lys359Asn)
7g.117540217A>GCA457448734CFTRc.987A>G (p.Lys329=)
c.*884A>G (n.*884A>G)
c.*811A>G (n.*811A>G)
c.744A>G (p.Lys248=)
c.897A>G (p.Lys299=)
c.1077A>G (p.Lys359=)
 gnomAD v4
7g.117540217A>TCA368978644CFTRc.987A>T (p.Lys329Asn)
c.*884A>T (n.*884A>T)
c.*811A>T (n.*811A>T)
c.744A>T (p.Lys248Asn)
c.897A>T (p.Lys299Asn)
c.1077A>T (p.Lys359Asn)
7g.117540218G>ACA368978655CFTRc.988G>A (p.Gly330Arg)
c.*885G>A (n.*885G>A)
c.*812G>A (n.*812G>A)
c.745G>A (p.Gly249Arg)
c.898G>A (p.Gly300Arg)
c.1078G>A (p.Gly360Arg)
 gnomAD v4
7g.117540218G>CCA368978652CFTRc.988G>C (p.Gly330Arg)
c.*885G>C (n.*885G>C)
c.*812G>C (n.*812G>C)
c.745G>C (p.Gly249Arg)
c.898G>C (p.Gly300Arg)
c.1078G>C (p.Gly360Arg)
7g.117540218G=CA1737332081CFTRc.988G= (p.Gly330=)
c.*885G= (n.*885G=)
c.*812G= (n.*812G=)
c.745G= (p.Gly249=)
c.898G= (p.Gly300=)
c.1078G= (p.Gly360=)
7g.117540218G>TCA328133CFTRc.988G>T (p.Gly330Ter)
c.*885G>T (n.*885G>T)
c.*812G>T (n.*812G>T)
c.745G>T (p.Gly249Ter)
c.898G>T (p.Gly300Ter)
c.1078G>T (p.Gly360Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117540219dupCA2695199633CFTRc.989dup (p.Ile331AsnfsTer?)
c.*886dup (n.*886dup)
c.*813dup (n.*813dup)
c.746dup (p.Ile250AsnfsTer?)
c.899dup (p.Ile301AsnfsTer?)
c.1079dup (p.Ile361AsnfsTer?)
 ClinVar
7g.117540219G>ACA368978658CFTRc.989G>A (p.Gly330Glu)
c.*886G>A (n.*886G>A)
c.*813G>A (n.*813G>A)
c.746G>A (p.Gly249Glu)
c.899G>A (p.Gly300Glu)
c.1079G>A (p.Gly360Glu)
 COSMIC
7g.117540219G>CCA368978660CFTRc.989G>C (p.Gly330Ala)
c.*886G>C (n.*886G>C)
c.*813G>C (n.*813G>C)
c.746G>C (p.Gly249Ala)
c.899G>C (p.Gly300Ala)
c.1079G>C (p.Gly360Ala)
7g.117540219G>TCA368978662CFTRc.989G>T (p.Gly330Val)
c.*886G>T (n.*886G>T)
c.*813G>T (n.*813G>T)
c.746G>T (p.Gly249Val)
c.899G>T (p.Gly300Val)
c.1079G>T (p.Gly360Val)
 gnomAD v4
7g.117540220A>CCA457448735CFTRc.990A>C (p.Gly330=)
c.*887A>C (n.*887A>C)
c.*814A>C (n.*814A>C)
c.747A>C (p.Gly249=)
c.900A>C (p.Gly300=)
c.1080A>C (p.Gly360=)
7g.117540220A>GCA457448736CFTRc.990A>G (p.Gly330=)
c.*887A>G (n.*887A>G)
c.*814A>G (n.*814A>G)
c.747A>G (p.Gly249=)
c.900A>G (p.Gly300=)
c.1080A>G (p.Gly360=)
7g.117540220A>TCA457448737CFTRc.990A>T (p.Gly330=)
c.*887A>T (n.*887A>T)
c.*814A>T (n.*814A>T)
c.747A>T (p.Gly249=)
c.900A>T (p.Gly300=)
c.1080A>T (p.Gly360=)
7g.117540221A=CA1737332084CFTRc.991A= (p.Ile331=)
c.*888A= (n.*888A=)
c.*815A= (n.*815A=)
c.748A= (p.Ile250=)
c.901A= (p.Ile301=)
c.1081A= (p.Ile361=)
7g.117540221A>CCA368978665CFTRc.991A>C (p.Ile331Leu)
c.*888A>C (n.*888A>C)
c.*815A>C (n.*815A>C)
c.748A>C (p.Ile250Leu)
c.901A>C (p.Ile301Leu)
c.1081A>C (p.Ile361Leu)
7g.117540221A>GCA368978667CFTRc.991A>G (p.Ile331Val)
c.*888A>G (n.*888A>G)
c.*815A>G (n.*815A>G)
c.748A>G (p.Ile250Val)
c.901A>G (p.Ile301Val)
c.1081A>G (p.Ile361Val)
7g.117540221A>TCA368978669CFTRc.991A>T (p.Ile331Phe)
c.*888A>T (n.*888A>T)
c.*815A>T (n.*815A>T)
c.748A>T (p.Ile250Phe)
c.901A>T (p.Ile301Phe)
c.1081A>T (p.Ile361Phe)
 ClinVar dbSNP
7g.117540222T>ACA327709CFTRc.992T>A (p.Ile331Asn)
c.*889T>A (n.*889T>A)
c.*816T>A (n.*816T>A)
c.749T>A (p.Ile250Asn)
c.902T>A (p.Ile301Asn)
c.1082T>A (p.Ile361Asn)
 ClinVar dbSNP ExAC gnomAD v2
7g.117540222T>CCA368978676CFTRc.992T>C (p.Ile331Thr)
c.*889T>C (n.*889T>C)
c.*816T>C (n.*816T>C)
c.749T>C (p.Ile250Thr)
c.902T>C (p.Ile301Thr)
c.1082T>C (p.Ile361Thr)
 gnomAD v4 COSMIC
7g.117540222T>GCA368978673CFTRc.992T>G (p.Ile331Ser)
c.*889T>G (n.*889T>G)
c.*816T>G (n.*816T>G)
c.749T>G (p.Ile250Ser)
c.902T>G (p.Ile301Ser)
c.1082T>G (p.Ile361Ser)
7g.117540222T=CA1737332087CFTRc.992T= (p.Ile331=)
c.*889T= (n.*889T=)
c.*816T= (n.*816T=)
c.749T= (p.Ile250=)
c.902T= (p.Ile301=)
c.1082T= (p.Ile361=)
7g.117540223C>ACA457448738CFTRc.993C>A (p.Ile331=)
c.*890C>A (n.*890C>A)
c.*817C>A (n.*817C>A)
c.750C>A (p.Ile250=)
c.903C>A (p.Ile301=)
c.1083C>A (p.Ile361=)
7g.117540223C>GCA368978678CFTRc.993C>G (p.Ile331Met)
c.*890C>G (n.*890C>G)
c.*817C>G (n.*817C>G)
c.750C>G (p.Ile250Met)
c.903C>G (p.Ile301Met)
c.1083C>G (p.Ile361Met)
7g.117540223C>TCA457448739CFTRc.993C>T (p.Ile331=)
c.*890C>T (n.*890C>T)
c.*817C>T (n.*817C>T)
c.750C>T (p.Ile250=)
c.903C>T (p.Ile301=)
c.1083C>T (p.Ile361=)
 ClinVar dbSNP
7g.117540224A>CCA368978679CFTRc.994A>C (p.Ile332Leu)
c.*891A>C (n.*891A>C)
c.*818A>C (n.*818A>C)
c.751A>C (p.Ile251Leu)
c.904A>C (p.Ile302Leu)
c.1084A>C (p.Ile362Leu)
7g.117540224A>GCA368978682CFTRc.994A>G (p.Ile332Val)
c.*891A>G (n.*891A>G)
c.*818A>G (n.*818A>G)
c.751A>G (p.Ile251Val)
c.904A>G (p.Ile302Val)
c.1084A>G (p.Ile362Val)
7g.117540224A>TCA368978685CFTRc.994A>T (p.Ile332Phe)
c.*891A>T (n.*891A>T)
c.*818A>T (n.*818A>T)
c.751A>T (p.Ile251Phe)
c.904A>T (p.Ile302Phe)
c.1084A>T (p.Ile362Phe)
7g.117540225T>ACA368978687CFTRc.995T>A (p.Ile332Asn)
c.*892T>A (n.*892T>A)
c.*819T>A (n.*819T>A)
c.752T>A (p.Ile251Asn)
c.905T>A (p.Ile302Asn)
c.1085T>A (p.Ile362Asn)
7g.117540225T>CCA368978688CFTRc.995T>C (p.Ile332Thr)
c.*892T>C (n.*892T>C)
c.*819T>C (n.*819T>C)
c.752T>C (p.Ile251Thr)
c.905T>C (p.Ile302Thr)
c.1085T>C (p.Ile362Thr)
7g.117540225T>GCA368978691CFTRc.995T>G (p.Ile332Ser)
c.*892T>G (n.*892T>G)
c.*819T>G (n.*819T>G)
c.752T>G (p.Ile251Ser)
c.905T>G (p.Ile302Ser)
c.1085T>G (p.Ile362Ser)
7g.117540226C>ACA457448740CFTRc.996C>A (p.Ile332=)
c.*893C>A (n.*893C>A)
c.*820C>A (n.*820C>A)
c.753C>A (p.Ile251=)
c.906C>A (p.Ile302=)
c.1086C>A (p.Ile362=)
 ClinVar
7g.117540226C>GCA368978693CFTRc.996C>G (p.Ile332Met)
c.*893C>G (n.*893C>G)
c.*820C>G (n.*820C>G)
c.753C>G (p.Ile251Met)
c.906C>G (p.Ile302Met)
c.1086C>G (p.Ile362Met)
7g.117540226C>TCA457448741CFTRc.996C>T (p.Ile332=)
c.*893C>T (n.*893C>T)
c.*820C>T (n.*820C>T)
c.753C>T (p.Ile251=)
c.906C>T (p.Ile302=)
c.1086C>T (p.Ile362=)
 ClinVar COSMIC
7g.117540227C>ACA368978696CFTRc.997C>A (p.Leu333Ile)
c.*894C>A (n.*894C>A)
c.*821C>A (n.*821C>A)
c.754C>A (p.Leu252Ile)
c.907C>A (p.Leu303Ile)
c.1087C>A (p.Leu363Ile)
7g.117540227C=CA1737332092CFTRc.997C= (p.Leu333=)
c.*894C= (n.*894C=)
c.*821C= (n.*821C=)
c.754C= (p.Leu252=)
c.907C= (p.Leu303=)
c.1087C= (p.Leu363=)
7g.117540227C>GCA368978724CFTRc.997C>G (p.Leu333Val)
c.*894C>G (n.*894C>G)
c.*821C>G (n.*821C>G)
c.754C>G (p.Leu252Val)
c.907C>G (p.Leu303Val)
c.1087C>G (p.Leu363Val)
7g.117540227C>TCA260262CFTRc.997C>T (p.Leu333Phe)
c.*894C>T (n.*894C>T)
c.*821C>T (n.*821C>T)
c.754C>T (p.Leu252Phe)
c.907C>T (p.Leu303Phe)
c.1087C>T (p.Leu363Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117540228T>ACA368978727CFTRc.998T>A (p.Leu333His)
c.*895T>A (n.*895T>A)
c.*822T>A (n.*822T>A)
c.755T>A (p.Leu252His)
c.908T>A (p.Leu303His)
c.1088T>A (p.Leu363His)
 gnomAD v4
7g.117540228T>CCA368978731CFTRc.998T>C (p.Leu333Pro)
c.*895T>C (n.*895T>C)
c.*822T>C (n.*822T>C)
c.755T>C (p.Leu252Pro)
c.908T>C (p.Leu303Pro)
c.1088T>C (p.Leu363Pro)
 gnomAD v4
7g.117540228T>GCA368978730CFTRc.998T>G (p.Leu333Arg)
c.*895T>G (n.*895T>G)
c.*822T>G (n.*822T>G)
c.755T>G (p.Leu252Arg)
c.908T>G (p.Leu303Arg)
c.1088T>G (p.Leu363Arg)
7g.117540229C>ACA457448742CFTRc.999C>A (p.Leu333=)
c.*896C>A (n.*896C>A)
c.*823C>A (n.*823C>A)
c.756C>A (p.Leu252=)
c.909C>A (p.Leu303=)
c.1089C>A (p.Leu363=)
7g.117540229C>GCA457448743CFTRc.999C>G (p.Leu333=)
c.*896C>G (n.*896C>G)
c.*823C>G (n.*823C>G)
c.756C>G (p.Leu252=)
c.909C>G (p.Leu303=)
c.1089C>G (p.Leu363=)
7g.117540229C>TCA457448744CFTRc.999C>T (p.Leu333=)
c.*896C>T (n.*896C>T)
c.*823C>T (n.*823C>T)
c.756C>T (p.Leu252=)
c.909C>T (p.Leu303=)
c.1089C>T (p.Leu363=)
 COSMIC
7g.117540230C>ACA457448745CFTRc.1000C>A (p.Arg334=)
c.*897C>A (n.*897C>A)
c.*824C>A (n.*824C>A)
c.757C>A (p.Arg253=)
c.910C>A (p.Arg304=)
c.1090C>A (p.Arg364=)
7g.117540230C=CA1737332096CFTRc.1000C= (p.Arg334=)
c.*897C= (n.*897C=)
c.*824C= (n.*824C=)
c.757C= (p.Arg253=)
c.910C= (p.Arg304=)
c.1090C= (p.Arg364=)
7g.117540230C>GCA368978733CFTRc.1000C>G (p.Arg334Gly)
c.*897C>G (n.*897C>G)
c.*824C>G (n.*824C>G)
c.757C>G (p.Arg253Gly)
c.910C>G (p.Arg304Gly)
c.1090C>G (p.Arg364Gly)
7g.117540230C>TCA340644CFTRc.1000C>T (p.Arg334Trp)
c.*897C>T (n.*897C>T)
c.*824C>T (n.*824C>T)
c.757C>T (p.Arg253Trp)
c.910C>T (p.Arg304Trp)
c.1090C>T (p.Arg364Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117540231G>ACA326358CFTRc.1001G>A (p.Arg334Gln)
c.*898G>A (n.*898G>A)
c.*825G>A (n.*825G>A)
c.758G>A (p.Arg253Gln)
c.911G>A (p.Arg304Gln)
c.1091G>A (p.Arg364Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117540231G>CCA368978737CFTRc.1001G>C (p.Arg334Pro)
c.*898G>C (n.*898G>C)
c.*825G>C (n.*825G>C)
c.758G>C (p.Arg253Pro)
c.911G>C (p.Arg304Pro)
c.1091G>C (p.Arg364Pro)
7g.117540231G=CA1737332108CFTRc.1001G= (p.Arg334=)
c.*898G= (n.*898G=)
c.*825G= (n.*825G=)
c.758G= (p.Arg253=)
c.911G= (p.Arg304=)
c.1091G= (p.Arg364=)
7g.117540231G>TCA326360CFTRc.1001G>T (p.Arg334Leu)
c.*898G>T (n.*898G>T)
c.*825G>T (n.*825G>T)
c.758G>T (p.Arg253Leu)
c.911G>T (p.Arg304Leu)
c.1091G>T (p.Arg364Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117540232G>ACA164953708CFTRc.1002G>A (p.Arg334=)
c.*899G>A (n.*899G>A)
c.*826G>A (n.*826G>A)
c.759G>A (p.Arg253=)
c.912G>A (p.Arg304=)
c.1092G>A (p.Arg364=)
 dbSNP
7g.117540232G>CCA457448746CFTRc.1002G>C (p.Arg334=)
c.*899G>C (n.*899G>C)
c.*826G>C (n.*826G>C)
c.759G>C (p.Arg253=)
c.912G>C (p.Arg304=)
c.1092G>C (p.Arg364=)
7g.117540232G=CA1737332123CFTRc.1002G= (p.Arg334=)
c.*899G= (n.*899G=)
c.*826G= (n.*826G=)
c.759G= (p.Arg253=)
c.912G= (p.Arg304=)
c.1092G= (p.Arg364=)
7g.117540232G>TCA457448747CFTRc.1002G>T (p.Arg334=)
c.*899G>T (n.*899G>T)
c.*826G>T (n.*826G>T)
c.759G>T (p.Arg253=)
c.912G>T (p.Arg304=)
c.1092G>T (p.Arg364=)
7g.117540233A=CA1737332131CFTRc.1003A= (p.Lys335=)
c.*900A= (n.*900A=)
c.*827A= (n.*827A=)
c.760A= (p.Lys254=)
c.913A= (p.Lys305=)
c.1093A= (p.Lys365=)
7g.117540233A>CCA368978740CFTRc.1003A>C (p.Lys335Gln)
c.*900A>C (n.*900A>C)
c.*827A>C (n.*827A>C)
c.760A>C (p.Lys254Gln)
c.913A>C (p.Lys305Gln)
c.1093A>C (p.Lys365Gln)
7g.117540233A>GCA368978742CFTRc.1003A>G (p.Lys335Glu)
c.*900A>G (n.*900A>G)
c.*827A>G (n.*827A>G)
c.760A>G (p.Lys254Glu)
c.913A>G (p.Lys305Glu)
c.1093A>G (p.Lys365Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117540233A>TCA368978744CFTRc.1003A>T (p.Lys335Ter)
c.*900A>T (n.*900A>T)
c.*827A>T (n.*827A>T)
c.760A>T (p.Lys254Ter)
c.913A>T (p.Lys305Ter)
c.1093A>T (p.Lys365Ter)
7g.117540236delCA2695208308CFTRc.1006del (p.Ile336TyrfsTer?)
c.*903del (n.*903del)
c.*830del (n.*830del)
c.763del (p.Ile255TyrfsTer?)
c.916del (p.Ile306TyrfsTer?)
c.1096del (p.Ile366TyrfsTer?)
7g.117540234A>CCA368978745CFTRc.1004A>C (p.Lys335Thr)
c.*901A>C (n.*901A>C)
c.*828A>C (n.*828A>C)
c.761A>C (p.Lys254Thr)
c.914A>C (p.Lys305Thr)
c.1094A>C (p.Lys365Thr)
7g.117540234A>GCA368978747CFTRc.1004A>G (p.Lys335Arg)
c.*901A>G (n.*901A>G)
c.*828A>G (n.*828A>G)
c.761A>G (p.Lys254Arg)
c.914A>G (p.Lys305Arg)
c.1094A>G (p.Lys365Arg)
7g.117540234A>TCA368978748CFTRc.1004A>T (p.Lys335Ile)
c.*901A>T (n.*901A>T)
c.*828A>T (n.*828A>T)
c.761A>T (p.Lys254Ile)
c.914A>T (p.Lys305Ile)
c.1094A>T (p.Lys365Ile)
 COSMIC
7g.117540235A=CA1737332135CFTRc.1005A= (p.Lys335=)
c.*902A= (n.*902A=)
c.*829A= (n.*829A=)
c.762A= (p.Lys254=)
c.915A= (p.Lys305=)
c.1095A= (p.Lys365=)
7g.117540235A>CCA368978751CFTRc.1005A>C (p.Lys335Asn)
c.*902A>C (n.*902A>C)
c.*829A>C (n.*829A>C)
c.762A>C (p.Lys254Asn)
c.915A>C (p.Lys305Asn)
c.1095A>C (p.Lys365Asn)
7g.117540235A>GCA457448748CFTRc.1005A>G (p.Lys335=)
c.*902A>G (n.*902A>G)
c.*829A>G (n.*829A>G)
c.762A>G (p.Lys254=)
c.915A>G (p.Lys305=)
c.1095A>G (p.Lys365=)
7g.117540235A>TCA368978750CFTRc.1005A>T (p.Lys335Asn)
c.*902A>T (n.*902A>T)
c.*829A>T (n.*829A>T)
c.762A>T (p.Lys254Asn)
c.915A>T (p.Lys305Asn)
c.1095A>T (p.Lys365Asn)
7g.117540236A=CA1737332152CFTRc.1006A= (p.Ile336=)
c.*903A= (n.*903A=)
c.*830A= (n.*830A=)
c.763A= (p.Ile255=)
c.916A= (p.Ile306=)
c.1096A= (p.Ile366=)
7g.117540236A>CCA368978752CFTRc.1006A>C (p.Ile336Leu)
c.*903A>C (n.*903A>C)
c.*830A>C (n.*830A>C)
c.763A>C (p.Ile255Leu)
c.916A>C (p.Ile306Leu)
c.1096A>C (p.Ile366Leu)
7g.117540236A>GCA368978754CFTRc.1006A>G (p.Ile336Val)
c.*903A>G (n.*903A>G)
c.*830A>G (n.*830A>G)
c.763A>G (p.Ile255Val)
c.916A>G (p.Ile306Val)
c.1096A>G (p.Ile366Val)
7g.117540236A>TCA368978756CFTRc.1006A>T (p.Ile336Leu)
c.*903A>T (n.*903A>T)
c.*830A>T (n.*830A>T)
c.763A>T (p.Ile255Leu)
c.916A>T (p.Ile306Leu)
c.1096A>T (p.Ile366Leu)
7g.117540238_117540249dupCA326363CFTRc.1008_1019dup (p.Ile340_Ser341insPheThrThrIle)
c.*905_*916dup (n.*905_*916dup)
c.*832_*843dup (n.*832_*843dup)
c.765_776dup (p.Ile259_Ser260insPheThrThrIle)
c.918_929dup (p.Ile310_Ser311insPheThrThrIle)
c.1098_1109dup (p.Ile370_Ser371insPheThrThrIle)
 ClinVar dbSNP
7g.117540236_117540237insGCA326362CFTRc.1006_1007insG (p.Ile336SerfsTer28)
c.*903_*904insG (n.*903_*904insG)
c.*830_*831insG (n.*830_*831insG)
c.763_764insG (p.Ile255SerfsTer28)
c.916_917insG (p.Ile306SerfsTer28)
c.1096_1097insG (p.Ile366SerfsTer28)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117540237T>ACA345302CFTRc.1007T>A (p.Ile336Lys)
c.*904T>A (n.*904T>A)
c.*831T>A (n.*831T>A)
c.764T>A (p.Ile255Lys)
c.917T>A (p.Ile306Lys)
c.1097T>A (p.Ile366Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117540237T>CCA4450876CFTRc.1007T>C (p.Ile336Thr)
c.*904T>C (n.*904T>C)
c.*831T>C (n.*831T>C)
c.764T>C (p.Ile255Thr)
c.917T>C (p.Ile306Thr)
c.1097T>C (p.Ile366Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117540237T>GCA368978760CFTRc.1007T>G (p.Ile336Arg)
c.*904T>G (n.*904T>G)
c.*831T>G (n.*831T>G)
c.764T>G (p.Ile255Arg)
c.917T>G (p.Ile306Arg)
c.1097T>G (p.Ile366Arg)
7g.117540237T=CA1737332163CFTRc.1007T= (p.Ile336=)
c.*904T= (n.*904T=)
c.*831T= (n.*831T=)
c.764T= (p.Ile255=)
c.917T= (p.Ile306=)
c.1097T= (p.Ile366=)
7g.117540238A>CCA457448749CFTRc.1008A>C (p.Ile336=)
c.*905A>C (n.*905A>C)
c.*832A>C (n.*832A>C)
c.765A>C (p.Ile255=)
c.918A>C (p.Ile306=)
c.1098A>C (p.Ile366=)
7g.117540238A>GCA368978762CFTRc.1008A>G (p.Ile336Met)
c.*905A>G (n.*905A>G)
c.*832A>G (n.*832A>G)
c.765A>G (p.Ile255Met)
c.918A>G (p.Ile306Met)
c.1098A>G (p.Ile366Met)
7g.117540238A>TCA457448750CFTRc.1008A>T (p.Ile336=)
c.*905A>T (n.*905A>T)
c.*832A>T (n.*832A>T)
c.765A>T (p.Ile255=)
c.918A>T (p.Ile306=)
c.1098A>T (p.Ile366=)
7g.117540239T>ACA368978763CFTRc.1009T>A (p.Phe337Ile)
c.*906T>A (n.*906T>A)
c.*833T>A (n.*833T>A)
c.766T>A (p.Phe256Ile)
c.919T>A (p.Phe307Ile)
c.1099T>A (p.Phe367Ile)
7g.117540239T>CCA368978764CFTRc.1009T>C (p.Phe337Leu)
c.*906T>C (n.*906T>C)
c.*833T>C (n.*833T>C)
c.766T>C (p.Phe256Leu)
c.919T>C (p.Phe307Leu)
c.1099T>C (p.Phe367Leu)
 ClinVar dbSNP gnomAD v4
7g.117540239T>GCA4450877CFTRc.1009T>G (p.Phe337Val)
c.*906T>G (n.*906T>G)
c.*833T>G (n.*833T>G)
c.766T>G (p.Phe256Val)
c.919T>G (p.Phe307Val)
c.1099T>G (p.Phe367Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117540239T=CA1737332173CFTRc.1009T= (p.Phe337=)
c.*906T= (n.*906T=)
c.*833T= (n.*833T=)
c.766T= (p.Phe256=)
c.919T= (p.Phe307=)
c.1099T= (p.Phe367=)
7g.117540240T>ACA368978769CFTRc.1010T>A (p.Phe337Tyr)
c.*907T>A (n.*907T>A)
c.*834T>A (n.*834T>A)
c.767T>A (p.Phe256Tyr)
c.920T>A (p.Phe307Tyr)
c.1100T>A (p.Phe367Tyr)
7g.117540240T>CCA368978770CFTRc.1010T>C (p.Phe337Ser)
c.*907T>C (n.*907T>C)
c.*834T>C (n.*834T>C)
c.767T>C (p.Phe256Ser)
c.920T>C (p.Phe307Ser)
c.1100T>C (p.Phe367Ser)
7g.117540240T>GCA368978767CFTRc.1010T>G (p.Phe337Cys)
c.*907T>G (n.*907T>G)
c.*834T>G (n.*834T>G)
c.767T>G (p.Phe256Cys)
c.920T>G (p.Phe307Cys)
c.1100T>G (p.Phe367Cys)
7g.117540241C>ACA368978773CFTRc.1011C>A (p.Phe337Leu)
c.*908C>A (n.*908C>A)
c.*835C>A (n.*835C>A)
c.768C>A (p.Phe256Leu)
c.921C>A (p.Phe307Leu)
c.1101C>A (p.Phe367Leu)
 COSMIC
7g.117540241C=CA1737332178CFTRc.1011C= (p.Phe337=)
c.*908C= (n.*908C=)
c.*835C= (n.*835C=)
c.768C= (p.Phe256=)
c.921C= (p.Phe307=)
c.1101C= (p.Phe367=)
7g.117540241C>GCA368978771CFTRc.1011C>G (p.Phe337Leu)
c.*908C>G (n.*908C>G)
c.*835C>G (n.*835C>G)
c.768C>G (p.Phe256Leu)
c.921C>G (p.Phe307Leu)
c.1101C>G (p.Phe367Leu)
 ClinVar dbSNP
7g.117540241C>TCA457448751CFTRc.1011C>T (p.Phe337=)
c.*908C>T (n.*908C>T)
c.*835C>T (n.*835C>T)
c.768C>T (p.Phe256=)
c.921C>T (p.Phe307=)
c.1101C>T (p.Phe367=)
7g.117540242_117540243delCA2580076458CFTRc.1012_1013del (p.Thr338HisfsTer25)
c.*909_*910del (n.*909_*910del)
c.*836_*837del (n.*836_*837del)
c.769_770del (p.Thr257HisfsTer25)
c.922_923del (p.Thr308HisfsTer25)
c.1102_1103del (p.Thr368HisfsTer25)
 ClinVar
7g.117540246_117540248delCA2695208309CFTRc.1016_1018del (p.Thr339del)
c.*913_*915del (n.*913_*915del)
c.*840_*842del (n.*840_*842del)
c.773_775del (p.Thr258del)
c.926_928del (p.Thr309del)
c.1106_1108del (p.Thr369del)
7g.117540242A=CA1737332183CFTRc.1012A= (p.Thr338=)
c.*909A= (n.*909A=)
c.*836A= (n.*836A=)
c.769A= (p.Thr257=)
c.922A= (p.Thr308=)
c.1102A= (p.Thr368=)
7g.117540242A>CCA368978777CFTRc.1012A>C (p.Thr338Pro)
c.*909A>C (n.*909A>C)
c.*836A>C (n.*836A>C)
c.769A>C (p.Thr257Pro)
c.922A>C (p.Thr308Pro)
c.1102A>C (p.Thr368Pro)
7g.117540242A>GCA326367CFTRc.1012A>G (p.Thr338Ala)
c.*909A>G (n.*909A>G)
c.*836A>G (n.*836A>G)
c.769A>G (p.Thr257Ala)
c.922A>G (p.Thr308Ala)
c.1102A>G (p.Thr368Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117540242A>TCA368978776CFTRc.1012A>T (p.Thr338Ser)
c.*909A>T (n.*909A>T)
c.*836A>T (n.*836A>T)
c.769A>T (p.Thr257Ser)
c.922A>T (p.Thr308Ser)
c.1102A>T (p.Thr368Ser)
7g.117540243C>ACA368978779CFTRc.1013C>A (p.Thr338Asn)
c.*910C>A (n.*910C>A)
c.*837C>A (n.*837C>A)
c.770C>A (p.Thr257Asn)
c.923C>A (p.Thr308Asn)
c.1103C>A (p.Thr368Asn)
 dbSNP
7g.117540243C=CA1737332199CFTRc.1013C= (p.Thr338=)
c.*910C= (n.*910C=)
c.*837C= (n.*837C=)
c.770C= (p.Thr257=)
c.923C= (p.Thr308=)
c.1103C= (p.Thr368=)
7g.117540243C>GCA368978781CFTRc.1013C>G (p.Thr338Ser)
c.*910C>G (n.*910C>G)
c.*837C>G (n.*837C>G)
c.770C>G (p.Thr257Ser)
c.923C>G (p.Thr308Ser)
c.1103C>G (p.Thr368Ser)
7g.117540243C>TCA325581CFTRc.1013C>T (p.Thr338Ile)
c.*910C>T (n.*910C>T)
c.*837C>T (n.*837C>T)
c.770C>T (p.Thr257Ile)
c.923C>T (p.Thr308Ile)
c.1103C>T (p.Thr368Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117540244C>ACA164953748CFTRc.1014C>A (p.Thr338=)
c.*911C>A (n.*911C>A)
c.*838C>A (n.*838C>A)
c.771C>A (p.Thr257=)
c.924C>A (p.Thr308=)
c.1104C>A (p.Thr368=)
 ClinVar dbSNP
7g.117540244C=CA1737332206CFTRc.1014C= (p.Thr338=)
c.*911C= (n.*911C=)
c.*838C= (n.*838C=)
c.771C= (p.Thr257=)
c.924C= (p.Thr308=)
c.1104C= (p.Thr368=)
7g.117540244C>GCA457448752CFTRc.1014C>G (p.Thr338=)
c.*911C>G (n.*911C>G)
c.*838C>G (n.*838C>G)
c.771C>G (p.Thr257=)
c.924C>G (p.Thr308=)
c.1104C>G (p.Thr368=)
7g.117540244C>TCA457448753CFTRc.1014C>T (p.Thr338=)
c.*911C>T (n.*911C>T)
c.*838C>T (n.*838C>T)
c.771C>T (p.Thr257=)
c.924C>T (p.Thr308=)
c.1104C>T (p.Thr368=)
 dbSNP
7g.117540245A>CCA368978783CFTRc.1015A>C (p.Thr339Pro)
c.*912A>C (n.*912A>C)
c.*839A>C (n.*839A>C)
c.772A>C (p.Thr258Pro)
c.925A>C (p.Thr309Pro)
c.1105A>C (p.Thr369Pro)
7g.117540245A>GCA368978785CFTRc.1015A>G (p.Thr339Ala)
c.*912A>G (n.*912A>G)
c.*839A>G (n.*839A>G)
c.772A>G (p.Thr258Ala)
c.925A>G (p.Thr309Ala)
c.1105A>G (p.Thr369Ala)
7g.117540245A>TCA368978787CFTRc.1015A>T (p.Thr339Ser)
c.*912A>T (n.*912A>T)
c.*839A>T (n.*839A>T)
c.772A>T (p.Thr258Ser)
c.925A>T (p.Thr309Ser)
c.1105A>T (p.Thr369Ser)
7g.117540246C>ACA368978788CFTRc.1016C>A (p.Thr339Asn)
c.*913C>A (n.*913C>A)
c.*840C>A (n.*840C>A)
c.773C>A (p.Thr258Asn)
c.926C>A (p.Thr309Asn)
c.1106C>A (p.Thr369Asn)
 ClinVar
7g.117540246C>GCA368978789CFTRc.1016C>G (p.Thr339Ser)
c.*913C>G (n.*913C>G)
c.*840C>G (n.*840C>G)
c.773C>G (p.Thr258Ser)
c.926C>G (p.Thr309Ser)
c.1106C>G (p.Thr369Ser)
 ClinVar
7g.117540246C>TCA368978791CFTRc.1016C>T (p.Thr339Ile)
c.*913C>T (n.*913C>T)
c.*840C>T (n.*840C>T)
c.773C>T (p.Thr258Ile)
c.926C>T (p.Thr309Ile)
c.1106C>T (p.Thr369Ile)
7g.117540247C>ACA457448754CFTRc.1017C>A (p.Thr339=)
c.*914C>A (n.*914C>A)
c.*841C>A (n.*841C>A)
c.774C>A (p.Thr258=)
c.927C>A (p.Thr309=)
c.1107C>A (p.Thr369=)
 dbSNP
7g.117540247C=CA1737332211CFTRc.1017C= (p.Thr339=)
c.*914C= (n.*914C=)
c.*841C= (n.*841C=)
c.774C= (p.Thr258=)
c.927C= (p.Thr309=)
c.1107C= (p.Thr369=)
7g.117540247C>GCA457448755CFTRc.1017C>G (p.Thr339=)
c.*914C>G (n.*914C>G)
c.*841C>G (n.*841C>G)
c.774C>G (p.Thr258=)
c.927C>G (p.Thr309=)
c.1107C>G (p.Thr369=)
7g.117540247C>TCA457448756CFTRc.1017C>T (p.Thr339=)
c.*914C>T (n.*914C>T)
c.*841C>T (n.*841C>T)
c.774C>T (p.Thr258=)
c.927C>T (p.Thr309=)
c.1107C>T (p.Thr369=)
 ClinVar dbSNP
7g.117540247_117540248delinsCACA1737332212CFTRc.1017_1018delinsCA (p.Thr339=)
c.*914_*915delinsCA (n.*914_*915delinsCA)
c.*841_*842delinsCA (n.*841_*842delinsCA)
c.774_775delinsCA (p.Thr258=)
c.927_928delinsCA (p.Thr309=)
c.1107_1108delinsCA (p.Thr369=)
7g.117540248delCA326369CFTRc.1018del (p.Ile340SerfsTer29)
c.*915del (n.*915del)
c.*842del (n.*842del)
c.775del (p.Ile259SerfsTer29)
c.928del (p.Ile310SerfsTer29)
c.1108del (p.Ile370SerfsTer29)
 dbSNP
7g.117540248A=CA1737332217CFTRc.1018A= (p.Ile340=)
c.*915A= (n.*915A=)
c.*842A= (n.*842A=)
c.775A= (p.Ile259=)
c.928A= (p.Ile310=)
c.1108A= (p.Ile370=)
7g.117540248A>CCA368978795CFTRc.1018A>C (p.Ile340Leu)
c.*915A>C (n.*915A>C)
c.*842A>C (n.*842A>C)
c.775A>C (p.Ile259Leu)
c.928A>C (p.Ile310Leu)
c.1108A>C (p.Ile370Leu)
7g.117540248A>GCA164953763CFTRc.1018A>G (p.Ile340Val)
c.*915A>G (n.*915A>G)
c.*842A>G (n.*842A>G)
c.775A>G (p.Ile259Val)
c.928A>G (p.Ile310Val)
c.1108A>G (p.Ile370Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117540248A>TCA368978793CFTRc.1018A>T (p.Ile340Phe)
c.*915A>T (n.*915A>T)
c.*842A>T (n.*842A>T)
c.775A>T (p.Ile259Phe)
c.928A>T (p.Ile310Phe)
c.1108A>T (p.Ile370Phe)
7g.117540249T>ACA368978798CFTRc.1019T>A (p.Ile340Asn)
c.*916T>A (n.*916T>A)
c.*843T>A (n.*843T>A)
c.776T>A (p.Ile259Asn)
c.929T>A (p.Ile310Asn)
c.1109T>A (p.Ile370Asn)
 ClinVar dbSNP gnomAD v4
7g.117540249T>CCA368978799CFTRc.1019T>C (p.Ile340Thr)
c.*916T>C (n.*916T>C)
c.*843T>C (n.*843T>C)
c.776T>C (p.Ile259Thr)
c.929T>C (p.Ile310Thr)
c.1109T>C (p.Ile370Thr)
7g.117540249T>GCA368978801CFTRc.1019T>G (p.Ile340Ser)
c.*916T>G (n.*916T>G)
c.*843T>G (n.*843T>G)
c.776T>G (p.Ile259Ser)
c.929T>G (p.Ile310Ser)
c.1109T>G (p.Ile370Ser)
7g.117540249T=CA1737332226CFTRc.1019T= (p.Ile340=)
c.*916T= (n.*916T=)
c.*843T= (n.*843T=)
c.776T= (p.Ile259=)
c.929T= (p.Ile310=)
c.1109T= (p.Ile370=)
7g.117540251_117540252dupCA340640CFTRc.1021_1022dup (p.Phe342HisfsTer28)
c.*918_*919dup (n.*918_*919dup)
c.*845_*846dup (n.*845_*846dup)
c.778_779dup (p.Phe261HisfsTer28)
c.931_932dup (p.Phe312HisfsTer28)
c.1111_1112dup (p.Phe372HisfsTer28)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117540250C>ACA457448758CFTRc.1020C>A (p.Ile340=)
c.*917C>A (n.*917C>A)
c.*844C>A (n.*844C>A)
c.777C>A (p.Ile259=)
c.930C>A (p.Ile310=)
c.1110C>A (p.Ile370=)
7g.117540250C>GCA368978803CFTRc.1020C>G (p.Ile340Met)
c.*917C>G (n.*917C>G)
c.*844C>G (n.*844C>G)
c.777C>G (p.Ile259Met)
c.930C>G (p.Ile310Met)
c.1110C>G (p.Ile370Met)
 dbSNP
7g.117540250C>TCA457448757CFTRc.1020C>T (p.Ile340=)
c.*917C>T (n.*917C>T)
c.*844C>T (n.*844C>T)
c.777C>T (p.Ile259=)
c.930C>T (p.Ile310=)
c.1110C>T (p.Ile370=)
7g.117540251T>ACA368978805CFTRc.1021T>A (p.Ser341Thr)
c.*918T>A (n.*918T>A)
c.*845T>A (n.*845T>A)
c.778T>A (p.Ser260Thr)
c.931T>A (p.Ser311Thr)
c.1111T>A (p.Ser371Thr)
7g.117540251T>CCA328077CFTRc.1021T>C (p.Ser341Pro)
c.*918T>C (n.*918T>C)
c.*845T>C (n.*845T>C)
c.778T>C (p.Ser260Pro)
c.931T>C (p.Ser311Pro)
c.1111T>C (p.Ser371Pro)
 ClinVar dbSNP gnomAD v4
7g.117540251T>GCA368978807CFTRc.1021T>G (p.Ser341Ala)
c.*918T>G (n.*918T>G)
c.*845T>G (n.*845T>G)
c.778T>G (p.Ser260Ala)
c.931T>G (p.Ser311Ala)
c.1111T>G (p.Ser371Ala)
7g.117540251T=CA1737332236CFTRc.1021T= (p.Ser341=)
c.*918T= (n.*918T=)
c.*845T= (n.*845T=)
c.778T= (p.Ser260=)
c.931T= (p.Ser311=)
c.1111T= (p.Ser371=)
7g.117540252C>ACA368978808CFTRc.1022C>A (p.Ser341Ter)
c.*919C>A (n.*919C>A)
c.*846C>A (n.*846C>A)
c.779C>A (p.Ser260Ter)
c.932C>A (p.Ser311Ter)
c.1112C>A (p.Ser371Ter)
7g.117540252C>GCA368978809CFTRc.1022C>G (p.Ser341Ter)
c.*919C>G (n.*919C>G)
c.*846C>G (n.*846C>G)
c.779C>G (p.Ser260Ter)
c.932C>G (p.Ser311Ter)
c.1112C>G (p.Ser371Ter)
7g.117540252C>TCA368978810CFTRc.1022C>T (p.Ser341Leu)
c.*919C>T (n.*919C>T)
c.*846C>T (n.*846C>T)
c.779C>T (p.Ser260Leu)
c.932C>T (p.Ser311Leu)
c.1112C>T (p.Ser371Leu)
7g.117540252dupCA1737332247CFTRc.1022dup (p.Phe342IlefsTer22)
c.*919dup (n.*919dup)
c.*846dup (n.*846dup)
c.779dup (p.Phe261IlefsTer22)
c.932dup (p.Phe312IlefsTer22)
c.1112dup (p.Phe372IlefsTer22)
 dbSNP
7g.117540253A=CA1737332250CFTRc.1023A= (p.Ser341=)
c.*920A= (n.*920A=)
c.*847A= (n.*847A=)
c.780A= (p.Ser260=)
c.933A= (p.Ser311=)
c.1113A= (p.Ser371=)
7g.117540253A>CCA457448759CFTRc.1023A>C (p.Ser341=)
c.*920A>C (n.*920A>C)
c.*847A>C (n.*847A>C)
c.780A>C (p.Ser260=)
c.933A>C (p.Ser311=)
c.1113A>C (p.Ser371=)
 dbSNP gnomAD v4
7g.117540253A>GCA164953797CFTRc.1023A>G (p.Ser341=)
c.*920A>G (n.*920A>G)
c.*847A>G (n.*847A>G)
c.780A>G (p.Ser260=)
c.933A>G (p.Ser311=)
c.1113A>G (p.Ser371=)
 dbSNP
7g.117540253A>TCA457448760CFTRc.1023A>T (p.Ser341=)
c.*920A>T (n.*920A>T)
c.*847A>T (n.*847A>T)
c.780A>T (p.Ser260=)
c.933A>T (p.Ser311=)
c.1113A>T (p.Ser371=)
7g.117540254T>ACA368978815CFTRc.1024T>A (p.Phe342Ile)
c.*921T>A (n.*921T>A)
c.*848T>A (n.*848T>A)
c.781T>A (p.Phe261Ile)
c.934T>A (p.Phe312Ile)
c.1114T>A (p.Phe372Ile)
7g.117540254T>CCA368978813CFTRc.1024T>C (p.Phe342Leu)
c.*921T>C (n.*921T>C)
c.*848T>C (n.*848T>C)
c.781T>C (p.Phe261Leu)
c.934T>C (p.Phe312Leu)
c.1114T>C (p.Phe372Leu)
7g.117540254T>GCA368978814CFTRc.1024T>G (p.Phe342Val)
c.*921T>G (n.*921T>G)
c.*848T>G (n.*848T>G)
c.781T>G (p.Phe261Val)
c.934T>G (p.Phe312Val)
c.1114T>G (p.Phe372Val)
7g.117540255T>ACA368978817CFTRc.1025T>A (p.Phe342Tyr)
c.*922T>A (n.*922T>A)
c.*849T>A (n.*849T>A)
c.782T>A (p.Phe261Tyr)
c.935T>A (p.Phe312Tyr)
c.1115T>A (p.Phe372Tyr)
7g.117540255T>CCA368978818CFTRc.1025T>C (p.Phe342Ser)
c.*922T>C (n.*922T>C)
c.*849T>C (n.*849T>C)
c.782T>C (p.Phe261Ser)
c.935T>C (p.Phe312Ser)
c.1115T>C (p.Phe372Ser)
7g.117540255T>GCA368978820CFTRc.1025T>G (p.Phe342Cys)
c.*922T>G (n.*922T>G)
c.*849T>G (n.*849T>G)
c.782T>G (p.Phe261Cys)
c.935T>G (p.Phe312Cys)
c.1115T>G (p.Phe372Cys)
7g.117540256_117540257dupCA2573332342CFTRc.1026_1027dup (p.Cys343SerfsTer27)
c.*923_*924dup (n.*923_*924dup)
c.*850_*851dup (n.*850_*851dup)
c.783_784dup (p.Cys262SerfsTer27)
c.936_937dup (p.Cys313SerfsTer27)
c.1116_1117dup (p.Cys373SerfsTer27)

Number of alleles fetched