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.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.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)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
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)
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)
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)
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)

Number of alleles fetched