Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117540097_117540344delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC | CA1737331753 | CFTR | c.870-3_1114delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.*767-3_*1011delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.*694-3_*938delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.627-3_871delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.780-3_1024delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC c.960-3_1204delinsTAGAACAGAACTGAAACTGACTCGGAAGGCAGCCTATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTATCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATCTCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACATGGTATGACTCTCTTGGAGCAATAAACAAAATAC | |
7 | g.117540100_117540346del | CA913189992 | CFTR | c.870_1116del c.*767_*1013del c.*694_*940del c.627_873del c.780_1026del c.960_1206del | ClinVar dbSNP |
7 | g.117540156_117540159delinsCCTT | CA1737331876 | CFTR | c.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=) | |
7 | g.117540165_117540167dup | CA1737331881 | CFTR | c.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 |
7 | g.117540165_117540167del | CA221037 | CFTR | c.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 |
7 | g.117540159T>A | CA368978299 | CFTR | c.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) | |
7 | g.117540159T>C | CA368978303 | CFTR | c.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) | |
7 | g.117540159T>G | CA368978305 | CFTR | c.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 |
7 | g.117540159_117540160delinsTC | CA1737331887 | CFTR | c.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=) | |
7 | g.117540160del | CA915945466 | CFTR | c.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 |
7 | g.117540160C>A | CA368978306 | CFTR | c.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 |
7 | g.117540160C= | CA1737331893 | CFTR | c.930C= (p.Phe310=) c.*827C= (n.*827C=) c.*754C= (n.*754C=) c.687C= (p.Phe229=) c.840C= (p.Phe280=) c.1020C= (p.Phe340=) | |
7 | g.117540160C>G | CA368978310 | CFTR | c.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 |
7 | g.117540160C>T | CA457448611 | CFTR | c.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 |
7 | g.117540161T>A | CA368978312 | CFTR | c.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) | |
7 | g.117540161T>C | CA368978315 | CFTR | c.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 |
7 | g.117540161T>G | CA368978318 | CFTR | c.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) | |
7 | g.117540162T>A | CA368978325 | CFTR | c.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) | |
7 | g.117540162T>C | CA368978324 | CFTR | c.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) | |
7 | g.117540162T>G | CA368978321 | CFTR | c.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 |
7 | g.117540162T= | CA1737331896 | CFTR | c.932T= (p.Phe311=) c.*829T= (n.*829T=) c.*756T= (n.*756T=) c.689T= (p.Phe230=) c.842T= (p.Phe281=) c.1022T= (p.Phe341=) | |
7 | g.117540163C>A | CA368978326 | CFTR | c.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) | |
7 | g.117540163C= | CA1737331899 | CFTR | c.933C= (p.Phe311=) c.*830C= (n.*830C=) c.*757C= (n.*757C=) c.690C= (p.Phe230=) c.843C= (p.Phe281=) c.1023C= (p.Phe341=) | |
7 | g.117540163C>G | CA325549 | CFTR | c.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 |
7 | g.117540163C>T | CA457448613 | CFTR | c.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=) | |
7 | g.117540163_117540164insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC | CA2500278839 | CFTR | c.933_934insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC c.*830_*831insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC (n.*830_*831insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC) c.*757_*758insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC (n.*757_*758insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC) c.690_691insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC c.843_844insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC c.1023_1024insAGAACTGGACGTAGATCAGCGTGAGCAGCTGTCAAAGCC | |
7 | g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC | CA2546354450 | CFTR | c.933_934insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC c.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC (n.*830_*831insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC) c.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC (n.*757_*758insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC) c.690_691insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC c.843_844insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC c.1023_1024insAGAACTGGACGCAGGTCAGCGTGAGCAGCCGTCAAAGCC | |
7 | g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGAATAGTAACGTCGAA | CA2542784879 | CFTR | c.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) | |
7 | g.117540163_117540164insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA | CA2564132800 | CFTR | c.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) | |
7 | g.117540163_117540164insAGAACTGGACGCAGGTCGGCGTGAGCGGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCATCAACTTGACCAGCCAGACCGCCACCTTTAACTAGAATAGTAACGTCGAA | CA2558367665 | CFTR | c.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) | |
7 | g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCTTTAACTAGGATAGTAACATCGAA | CA2530333085 | CFTR | c.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) | |
7 | g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCTGTCAAAGCTTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAGGATAGTAACGTCGAA | CA2554840762 | CFTR | c.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) | |
7 | g.117540163_117540164insAGAACTGGACGCAGGTCAGCGTGAGCAGCAGTCAAAGCCTTTGCGATGCCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACATCGAA | CA2532597899 | CFTR | c.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) | |
7 | g.117540164T>A | CA368978329 | CFTR | c.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) | |
7 | g.117540164T>C | CA368978327 | CFTR | c.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) | |
7 | g.117540164T>G | CA368978328 | CFTR | c.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) | |
7 | g.117540165T>A | CA368978332 | CFTR | c.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) | |
7 | g.117540165T>C | CA368978333 | CFTR | c.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) | |
7 | g.117540165T>G | CA368978335 | CFTR | c.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) | |
7 | g.117540165_117540166insTGCAATACCAAGCTTGATAGCGTCAACTTGACCAGCTAAGCCGCCACCCTTAACTAGGATAGTAACGTCGAA | CA2562294255 | CFTR | c.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) | |
7 | g.117540165_117540166insTGCGATGCCAAGCTTGATGGCGTCAACTTGACCAGCCAGACCGCCACCCTTAACTAAGATAGTAACGTCGAA | CA2518214346 | CFTR | c.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) | |
7 | g.117540166C>A | CA368978337 | CFTR | c.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) | |
7 | g.117540166C>G | CA368978341 | CFTR | c.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) | |
7 | g.117540166C>T | CA457448615 | CFTR | c.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 |
7 | g.117540167T>A | CA368978343 | CFTR | c.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) | |
7 | g.117540167T>C | CA368978344 | CFTR | c.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 |
7 | g.117540167T>G | CA368978345 | CFTR | c.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) | |
7 | g.117540168C>A | CA368978351 | CFTR | c.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) | |
7 | g.117540168C>G | CA368978349 | CFTR | c.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) | |
7 | g.117540168C>T | CA368978348 | CFTR | c.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) |