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.117540152_117540156del | CA2573141557 | CFTR | c.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 |
7 | g.117540153C>A | CA368978225 | CFTR | c.923C>A (p.Ser308Ter) c.*820C>A (n.*820C>A) c.*747C>A (n.*747C>A) c.680C>A (p.Ser227Ter) c.833C>A (p.Ser278Ter) c.1013C>A (p.Ser338Ter) | |
7 | g.117540153C= | CA1737331868 | CFTR | c.923C= (p.Ser308=) c.*820C= (n.*820C=) c.*747C= (n.*747C=) c.680C= (p.Ser227=) c.833C= (p.Ser278=) c.1013C= (p.Ser338=) | |
7 | g.117540153C>G | CA368978226 | CFTR | c.923C>G (p.Ser308Ter) c.*820C>G (n.*820C>G) c.*747C>G (n.*747C>G) c.680C>G (p.Ser227Ter) c.833C>G (p.Ser278Ter) c.1013C>G (p.Ser338Ter) | |
7 | g.117540153C>T | CA368978228 | CFTR | c.923C>T (p.Ser308Leu) c.*820C>T (n.*820C>T) c.*747C>T (n.*747C>T) c.680C>T (p.Ser227Leu) c.833C>T (p.Ser278Leu) c.1013C>T (p.Ser338Leu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117540154A= | CA1737331870 | CFTR | c.924A= (p.Ser308=) c.*821A= (n.*821A=) c.*748A= (n.*748A=) c.681A= (p.Ser227=) c.834A= (p.Ser278=) c.1014A= (p.Ser338=) | |
7 | g.117540154A>C | CA457448606 | CFTR | c.924A>C (p.Ser308=) c.*821A>C (n.*821A>C) c.*748A>C (n.*748A>C) c.681A>C (p.Ser227=) c.834A>C (p.Ser278=) c.1014A>C (p.Ser338=) | |
7 | g.117540154A>G | CA457448607 | CFTR | c.924A>G (p.Ser308=) c.*821A>G (n.*821A>G) c.*748A>G (n.*748A>G) c.681A>G (p.Ser227=) c.834A>G (p.Ser278=) c.1014A>G (p.Ser338=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117540154A>T | CA457448608 | CFTR | c.924A>T (p.Ser308=) c.*821A>T (n.*821A>T) c.*748A>T (n.*748A>T) c.681A>T (p.Ser227=) c.834A>T (p.Ser278=) c.1014A>T (p.Ser338=) | |
7 | g.117540155G>A | CA4450864 | CFTR | c.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 |
7 | g.117540155G>C | CA368978245 | CFTR | c.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) | |
7 | g.117540155G= | CA1737331871 | CFTR | c.925G= (p.Ala309=) c.*822G= (n.*822G=) c.*749G= (n.*749G=) c.682G= (p.Ala228=) c.835G= (p.Ala279=) c.1015G= (p.Ala339=) | |
7 | g.117540155G>T | CA368978246 | CFTR | c.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) | |
7 | g.117540156C>A | CA368978263 | CFTR | c.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 |
7 | g.117540156C= | CA1737331878 | CFTR | c.926C= (p.Ala309=) c.*823C= (n.*823C=) c.*750C= (n.*750C=) c.683C= (p.Ala228=) c.836C= (p.Ala279=) c.1016C= (p.Ala339=) | |
7 | g.117540156C>G | CA327692 | CFTR | c.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 |
7 | g.117540156C>T | CA368978259 | CFTR | c.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 |
7 | g.117540157del | CA2684618158 | CFTR | c.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 |
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.117540157C>A | CA164953503 | CFTR | c.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 |
7 | g.117540157C= | CA1737331884 | CFTR | c.927C= (p.Ala309=) c.*824C= (n.*824C=) c.*751C= (n.*751C=) c.684C= (p.Ala228=) c.837C= (p.Ala279=) c.1017C= (p.Ala339=) | |
7 | g.117540157C>G | CA4450865 | CFTR | c.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 |
7 | g.117540157C>T | CA4450866 | CFTR | c.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 |
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) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117540158T>A | CA368978289 | CFTR | c.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) | |
7 | g.117540158T>C | CA368978296 | CFTR | c.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) | |
7 | g.117540158T>G | CA368978293 | CFTR | c.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) | |
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) | ClinVar |
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) | ClinVar |
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) | ClinVar |
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) | |
7 | g.117540169A= | CA1737331902 | CFTR | c.939A= (p.Ser313=) c.*836A= (n.*836A=) c.*763A= (n.*763A=) c.696A= (p.Ser232=) c.849A= (p.Ser283=) c.1029A= (p.Ser343=) | |
7 | g.117540169A>C | CA457448617 | CFTR | c.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 |
7 | g.117540169A>G | CA4450867 | CFTR | c.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 |
7 | g.117540169A>T | CA457448620 | CFTR | c.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=) | |
7 | g.117540170G>A | CA368978359 | CFTR | c.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) | |
7 | g.117540170G>C | CA327695 | CFTR | c.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 |
7 | g.117540170G= | CA1737331904 | CFTR | c.940G= (p.Gly314=) c.*837G= (n.*837G=) c.*764G= (n.*764G=) c.697G= (p.Gly233=) c.850G= (p.Gly284=) c.1030G= (p.Gly344=) | |
7 | g.117540170G>T | CA368978360 | CFTR | c.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 |
7 | g.117540171G>A | CA327696 | CFTR | c.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 |
7 | g.117540171G>C | CA368978366 | CFTR | c.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 |
7 | g.117540171G= | CA1737331911 | CFTR | c.941G= (p.Gly314=) c.*838G= (n.*838G=) c.*765G= (n.*765G=) c.698G= (p.Gly233=) c.851G= (p.Gly284=) c.1031G= (p.Gly344=) | |
7 | g.117540171G>T | CA327697 | CFTR | c.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 |
7 | g.117540172G>A | CA457448623 | CFTR | c.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=) | |
7 | g.117540172G>C | CA457448625 | CFTR | c.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=) | |
7 | g.117540172G= | CA1737331917 | CFTR | c.942G= (p.Gly314=) c.*839G= (n.*839G=) c.*766G= (n.*766G=) c.699G= (p.Gly233=) c.852G= (p.Gly284=) c.1032G= (p.Gly344=) | |
7 | g.117540172G>T | CA457448626 | CFTR | c.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 |
7 | g.117540173T>A | CA368978379 | CFTR | c.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) | |
7 | g.117540173T>C | CA368978381 | CFTR | c.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) | |
7 | g.117540173T>G | CA368978384 | CFTR | c.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) | |
7 | g.117540174T>A | CA368978388 | CFTR | c.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) | |
7 | g.117540174T>C | CA4450868 | CFTR | c.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 |
7 | g.117540174T>G | CA368978393 | CFTR | c.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 |
7 | g.117540174T= | CA1737331919 | CFTR | c.944T= (p.Phe315=) c.*841T= (n.*841T=) c.*768T= (n.*768T=) c.701T= (p.Phe234=) c.854T= (p.Phe285=) c.1034T= (p.Phe345=) | |
7 | g.117540175C>A | CA368978399 | CFTR | c.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) | |
7 | g.117540175C= | CA1737331925 | CFTR | c.945C= (p.Phe315=) c.*842C= (n.*842C=) c.*769C= (n.*769C=) c.702C= (p.Phe234=) c.855C= (p.Phe285=) c.1035C= (p.Phe345=) | |
7 | g.117540175C>G | CA368978397 | CFTR | c.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 |
7 | g.117540175C>T | CA457448629 | CFTR | c.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 |
7 | g.117540175_117540176delinsCT | CA1737331923 | CFTR | c.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=) | |
7 | g.117540176T>A | CA368978421 | CFTR | c.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) | |
7 | g.117540176T>C | CA368978420 | CFTR | c.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) | |
7 | g.117540176T>G | CA368978419 | CFTR | c.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) | |
7 | g.117540178dup | CA164953544 | CFTR | c.948dup (p.Val317CysfsTer?) c.*845dup (n.*845dup) c.*772dup (n.*772dup) c.705dup (p.Val236CysfsTer?) c.858dup (p.Val287CysfsTer?) c.1038dup (p.Val347CysfsTer?) | ClinVar |
7 | g.117540178del | CA221039 | CFTR | c.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 |
7 | g.117540177T>A | CA368978423 | CFTR | c.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 |
7 | g.117540177T>C | CA164953556 | CFTR | c.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 |
7 | g.117540177T>G | CA368978425 | CFTR | c.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) | |
7 | g.117540177T= | CA1737331933 | CFTR | c.947T= (p.Phe316=) c.*844T= (n.*844T=) c.*771T= (n.*771T=) c.704T= (p.Phe235=) c.857T= (p.Phe286=) c.1037T= (p.Phe346=) | |
7 | g.117540178T>A | CA368978427 | CFTR | c.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) | |
7 | g.117540178T>C | CA457448630 | CFTR | c.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=) | |
7 | g.117540178T>G | CA10603955 | CFTR | c.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 |
7 | g.117540178T= | CA1737331938 | CFTR | c.948T= (p.Phe316=) c.*845T= (n.*845T=) c.*772T= (n.*772T=) c.705T= (p.Phe235=) c.858T= (p.Phe286=) c.1038T= (p.Phe346=) | |
7 | g.117540179G>A | CA368978429 | CFTR | c.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 |
7 | g.117540179G>C | CA368978431 | CFTR | c.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) | |
7 | g.117540179G>T | CA368978434 | CFTR | c.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) | ClinVar |
7 | g.117540180T>A | CA368978447 | CFTR | c.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 |
7 | g.117540180T>C | CA368978444 | CFTR | c.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 |
7 | g.117540180T>G | CA368978446 | CFTR | c.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 |
7 | g.117540180T= | CA1737331942 | CFTR | c.950T= (p.Val317=) c.*847T= (n.*847T=) c.*774T= (n.*774T=) c.707T= (p.Val236=) c.860T= (p.Val287=) c.1040T= (p.Val347=) | |
7 | g.117540181G>A | CA457448633 | CFTR | c.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 |
7 | g.117540181G>C | CA457448634 | CFTR | c.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=) | |
7 | g.117540181G>T | CA457448635 | CFTR | c.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=) | |
7 | g.117540182G>A | CA368978450 | CFTR | c.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) | |
7 | g.117540182G>C | CA368978454 | CFTR | c.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) | |
7 | g.117540182G>T | CA368978455 | CFTR | c.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) | |
7 | g.117540183T>A | CA368978457 | CFTR | c.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) | |
7 | g.117540183T>C | CA368978460 | CFTR | c.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) | |
7 | g.117540183T>G | CA368978462 | CFTR | c.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) | |
7 | g.117540184G>A | CA4450869 | CFTR | c.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 |
7 | g.117540184G>C | CA457448639 | CFTR | c.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=) | |
7 | g.117540184G= | CA1737331950 | CFTR | c.954G= (p.Val318=) c.*851G= (n.*851G=) c.*778G= (n.*778G=) c.711G= (p.Val237=) c.864G= (p.Val288=) c.1044G= (p.Val348=) | |
7 | g.117540184G>T | CA457448638 | CFTR | c.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=) | |
7 | g.117540184_117540185delinsGT | CA1737331953 | CFTR | c.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=) | |
7 | g.117540185T>A | CA368978467 | CFTR | c.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) | |
7 | g.117540185T>C | CA368978470 | CFTR | c.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) | |
7 | g.117540185T>G | CA368978471 | CFTR | c.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) | |
7 | g.117540189del | CA915945467 | CFTR | c.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 |
7 | g.117540186T>A | CA368978473 | CFTR | c.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) | |
7 | g.117540186T>C | CA368978476 | CFTR | c.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) | |
7 | g.117540186T>G | CA368978478 | CFTR | c.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) | |
7 | g.117540187T>A | CA368978479 | CFTR | c.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) | |
7 | g.117540187T>C | CA457448643 | CFTR | c.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=) | |
7 | g.117540187T>G | CA368978482 | CFTR | c.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) | |
7 | g.117540188T>A | CA368978483 | CFTR | c.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) | |
7 | g.117540188T>C | CA457448644 | CFTR | c.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=) | |
7 | g.117540188T>G | CA325718 | CFTR | c.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 |
7 | g.117540188T= | CA1737331960 | CFTR | c.958T= (p.Leu320=) c.*855T= (n.*855T=) c.*782T= (n.*782T=) c.715T= (p.Leu239=) c.868T= (p.Leu290=) c.1048T= (p.Leu350=) | |
7 | g.117540189T>A | CA327699 | CFTR | c.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 |
7 | g.117540189T>C | CA368978486 | CFTR | c.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 |
7 | g.117540189T>G | CA368978484 | CFTR | c.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) | |
7 | g.117540189T= | CA1737331965 | CFTR | c.959T= (p.Leu320=) c.*856T= (n.*856T=) c.*783T= (n.*783T=) c.716T= (p.Leu239=) c.869T= (p.Leu290=) c.1049T= (p.Leu350=) | |
7 | g.117540190A= | CA1737331973 | CFTR | c.960A= (p.Leu320=) c.*857A= (n.*857A=) c.*784A= (n.*784A=) c.717A= (p.Leu239=) c.870A= (p.Leu290=) c.1050A= (p.Leu350=) | |
7 | g.117540190A>C | CA368978487 | CFTR | c.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 |
7 | g.117540190A>G | CA10605106 | CFTR | c.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 |
7 | g.117540190A>T | CA327703 | CFTR | c.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 |
7 | g.117540190dup | CA2580076446 | CFTR | c.960dup (p.Ser321IlefsTer?) c.*857dup (n.*857dup) c.*784dup (n.*784dup) c.717dup (p.Ser240IlefsTer?) c.870dup (p.Ser291IlefsTer?) c.1050dup (p.Ser351IlefsTer?) | ClinVar |
7 | g.117540191T>A | CA368978499 | CFTR | c.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) | |
7 | g.117540191T>C | CA4450870 | CFTR | c.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 |
7 | g.117540191T>G | CA368978506 | CFTR | c.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) | |
7 | g.117540191T= | CA1737331976 | CFTR | c.961T= (p.Ser321=) c.*858T= (n.*858T=) c.*785T= (n.*785T=) c.718T= (p.Ser240=) c.871T= (p.Ser291=) c.1051T= (p.Ser351=) | |
7 | g.117540192del | CA2580076447 | CFTR | c.962del (p.Ser321LeufsTer7) c.*859del (n.*859del) c.*786del (n.*786del) c.719del (p.Ser240LeufsTer7) c.872del (p.Ser291LeufsTer7) c.1052del (p.Ser351LeufsTer7) | ClinVar |
7 | g.117540192C>A | CA368978509 | CFTR | c.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) | |
7 | g.117540192C= | CA1737331980 | CFTR | c.962C= (p.Ser321=) c.*859C= (n.*859C=) c.*786C= (n.*786C=) c.719C= (p.Ser240=) c.872C= (p.Ser291=) c.1052C= (p.Ser351=) | |
7 | g.117540192C>G | CA368978510 | CFTR | c.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 |
7 | g.117540192C>T | CA368978511 | CFTR | c.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 |
7 | g.117540193T>A | CA457448649 | CFTR | c.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=) | |
7 | g.117540193T>C | CA4450871 | CFTR | c.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 |
7 | g.117540193T>G | CA457448650 | CFTR | c.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 |
7 | g.117540193T= | CA1737331984 | CFTR | c.963T= (p.Ser321=) c.*860T= (n.*860T=) c.*787T= (n.*787T=) c.720T= (p.Ser240=) c.873T= (p.Ser291=) c.1053T= (p.Ser351=) | |
7 | g.117540194G>A | CA132755 | CFTR | c.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 |
7 | g.117540194G>C | CA368978521 | CFTR | c.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) | |
7 | g.117540194G= | CA1737331991 | CFTR | c.964G= (p.Val322=) c.*861G= (n.*861G=) c.*788G= (n.*788G=) c.721G= (p.Val241=) c.874G= (p.Val292=) c.1054G= (p.Val352=) | |
7 | g.117540194G>T | CA368978522 | CFTR | c.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) | |
7 | g.117540195T>A | CA368978531 | CFTR | c.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) | |
7 | g.117540195T>C | CA368978524 | CFTR | c.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) | |
7 | g.117540195T>G | CA368978527 | CFTR | c.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) | |
7 | g.117540196G>A | CA457448655 | CFTR | c.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=) | |
7 | g.117540196G>C | CA457448656 | CFTR | c.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 |
7 | g.117540196G>T | CA457448657 | CFTR | c.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=) | |
7 | g.117540197C>A | CA368978533 | CFTR | c.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) | |
7 | g.117540197C>G | CA368978535 | CFTR | c.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) | |
7 | g.117540197C>T | CA368978537 | CFTR | c.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) | |
7 | g.117540198T>A | CA368978541 | CFTR | c.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) | |
7 | g.117540198T>C | CA368978546 | CFTR | c.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) | |
7 | g.117540198T>G | CA368978547 | CFTR | c.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) | |
7 | g.117540199T>A | CA457448661 | CFTR | c.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 |
7 | g.117540199T>C | CA457448659 | CFTR | c.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=) | |
7 | g.117540199T>G | CA457448660 | CFTR | c.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=) | |
7 | g.117540200C>A | CA368978550 | CFTR | c.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) | |
7 | g.117540200C= | CA1737331997 | CFTR | c.970C= (p.Pro324=) c.*867C= (n.*867C=) c.*794C= (n.*794C=) c.727C= (p.Pro243=) c.880C= (p.Pro294=) c.1060C= (p.Pro354=) | |
7 | g.117540200C>G | CA368978552 | CFTR | c.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 |
7 | g.117540200C>T | CA164953594 | CFTR | c.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 |
7 | g.117540202del | CA2580076450 | CFTR | c.972del (p.Tyr325MetfsTer3) c.*869del (n.*869del) c.*796del (n.*796del) c.729del (p.Tyr244MetfsTer3) c.882del (p.Tyr295MetfsTer3) c.1062del (p.Tyr355MetfsTer3) | ClinVar |
7 | g.117540201C>A | CA368978554 | CFTR | c.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) | |
7 | g.117540201C= | CA1737332003 | CFTR | c.971C= (p.Pro324=) c.*868C= (n.*868C=) c.*795C= (n.*795C=) c.728C= (p.Pro243=) c.881C= (p.Pro294=) c.1061C= (p.Pro354=) | |
7 | g.117540201C>G | CA368978556 | CFTR | c.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) | |
7 | g.117540201C>T | CA327705 | CFTR | c.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 |
7 | g.117540202C>A | CA457448663 | CFTR | c.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=) | |
7 | g.117540202C= | CA1737332010 | CFTR | c.972C= (p.Pro324=) c.*869C= (n.*869C=) c.*796C= (n.*796C=) c.729C= (p.Pro243=) c.882C= (p.Pro294=) c.1062C= (p.Pro354=) | |
7 | g.117540202C>G | CA4450872 | CFTR | c.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 |
7 | g.117540202C>T | CA457448664 | CFTR | c.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=) | ClinVar |
7 | g.117540203T>A | CA368978567 | CFTR | c.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) | |
7 | g.117540203T>C | CA368978561 | CFTR | c.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) | |
7 | g.117540203T>G | CA368978566 | CFTR | c.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) | |
7 | g.117540204A= | CA1737332019 | CFTR | c.974A= (p.Tyr325=) c.*871A= (n.*871A=) c.*798A= (n.*798A=) c.731A= (p.Tyr244=) c.884A= (p.Tyr295=) c.1064A= (p.Tyr355=) | |
7 | g.117540204A>C | CA368978568 | CFTR | c.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) | |
7 | g.117540204A>G | CA4450873 | CFTR | c.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 |
7 | g.117540204A>T | CA368978578 | CFTR | c.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) | |
7 | g.117540205T>A | CA368978581 | CFTR | c.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) | |
7 | g.117540205T>C | CA457448668 | CFTR | c.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=) | |
7 | g.117540205T>G | CA368978586 | CFTR | c.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) | |
7 | g.117540206G>A | CA368978589 | CFTR | c.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) | |
7 | g.117540206G>C | CA368978590 | CFTR | c.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) | |
7 | g.117540206G>T | CA368978591 | CFTR | c.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 |
7 | g.117540207C>A | CA368978595 | CFTR | c.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) | |
7 | g.117540207C= | CA1737332027 | CFTR | c.977C= (p.Ala326=) c.*874C= (n.*874C=) c.*801C= (n.*801C=) c.734C= (p.Ala245=) c.887C= (p.Ala296=) c.1067C= (p.Ala356=) | |
7 | g.117540207C>G | CA368978599 | CFTR | c.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 |
7 | g.117540207C>T | CA368978601 | CFTR | c.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 |
7 | g.117540208A= | CA1737332034 | CFTR | c.978A= (p.Ala326=) c.*875A= (n.*875A=) c.*802A= (n.*802A=) c.735A= (p.Ala245=) c.888A= (p.Ala296=) c.1068A= (p.Ala356=) | |
7 | g.117540208A>C | CA457448672 | CFTR | c.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=) | |
7 | g.117540208A>G | CA4450874 | CFTR | c.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 |
7 | g.117540208A>T | CA457448673 | CFTR | c.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 |
7 | g.117540209C>A | CA368978604 | CFTR | c.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) | |
7 | g.117540209C= | CA1737332044 | CFTR | c.979C= (p.Leu327=) c.*876C= (n.*876C=) c.*803C= (n.*803C=) c.736C= (p.Leu246=) c.889C= (p.Leu297=) c.1069C= (p.Leu357=) | |
7 | g.117540209C>G | CA368978605 | CFTR | c.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 |
7 | g.117540209C>T | CA457448730 | CFTR | c.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 |
7 | g.117540209_117540210delinsCT | CA1737332040 | CFTR | c.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=) | |
7 | g.117540210del | CA327707 | CFTR | c.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 |
7 | g.117540210T>A | CA368978606 | CFTR | c.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) | |
7 | g.117540210T>C | CA368978608 | CFTR | c.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) | ClinVar gnomAD v4 |
7 | g.117540210T>G | CA4450875 | CFTR | c.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 |
7 | g.117540210T= | CA1737332058 | CFTR | c.980T= (p.Leu327=) c.*877T= (n.*877T=) c.*804T= (n.*804T=) c.737T= (p.Leu246=) c.890T= (p.Leu297=) c.1070T= (p.Leu357=) | |
7 | g.117540211A= | CA1737332069 | CFTR | c.981A= (p.Leu327=) c.*878A= (n.*878A=) c.*805A= (n.*805A=) c.738A= (p.Leu246=) c.891A= (p.Leu297=) c.1071A= (p.Leu357=) | |
7 | g.117540211A>C | CA457448731 | CFTR | c.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=) | |
7 | g.117540211A>G | CA164953673 | CFTR | c.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 |
7 | g.117540211A>T | CA164953674 | CFTR | c.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 |
7 | g.117540212A>C | CA368978614 | CFTR | c.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) | |
7 | g.117540212A>G | CA368978616 | CFTR | c.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) | |
7 | g.117540212A>T | CA368978618 | CFTR | c.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) | |
7 | g.117540213T>A | CA368978620 | CFTR | c.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) | |
7 | g.117540213T>C | CA368978623 | CFTR | c.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) | |
7 | g.117540213T>G | CA368978626 | CFTR | c.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) | |
7 | g.117540214C>A | CA457448733 | CFTR | c.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=) | |
7 | g.117540214C>G | CA368978628 | CFTR | c.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) | |
7 | g.117540214C>T | CA457448732 | CFTR | c.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=) | |
7 | g.117540214_117540215delinsCA | CA1737332075 | CFTR | c.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=) | |
7 | g.117540215A>C | CA368978629 | CFTR | c.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) | |
7 | g.117540215A>G | CA368978632 | CFTR | c.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) | |
7 | g.117540215A>T | CA368978634 | CFTR | c.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) | |
7 | g.117540217del | CA327708 | CFTR | c.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 |
7 | g.117540216A>C | CA368978637 | CFTR | c.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) | |
7 | g.117540216A>G | CA368978639 | CFTR | c.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) | |
7 | g.117540216A>T | CA368978641 | CFTR | c.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) | |
7 | g.117540217A>C | CA368978642 | CFTR | c.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) | |
7 | g.117540217A>G | CA457448734 | CFTR | c.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 |
7 | g.117540217A>T | CA368978644 | CFTR | c.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) | |
7 | g.117540218G>A | CA368978655 | CFTR | c.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 |
7 | g.117540218G>C | CA368978652 | CFTR | c.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) | |
7 | g.117540218G= | CA1737332081 | CFTR | c.988G= (p.Gly330=) c.*885G= (n.*885G=) c.*812G= (n.*812G=) c.745G= (p.Gly249=) c.898G= (p.Gly300=) c.1078G= (p.Gly360=) | |
7 | g.117540218G>T | CA328133 | CFTR | c.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 |
7 | g.117540219dup | CA2695199633 | CFTR | c.989dup (p.Ile331AsnfsTer?) c.*886dup (n.*886dup) c.*813dup (n.*813dup) c.746dup (p.Ile250AsnfsTer?) c.899dup (p.Ile301AsnfsTer?) c.1079dup (p.Ile361AsnfsTer?) | ClinVar |
7 | g.117540219G>A | CA368978658 | CFTR | c.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 |
7 | g.117540219G>C | CA368978660 | CFTR | c.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) | |
7 | g.117540219G>T | CA368978662 | CFTR | c.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 |
7 | g.117540220A>C | CA457448735 | CFTR | c.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=) | |
7 | g.117540220A>G | CA457448736 | CFTR | c.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=) | |
7 | g.117540220A>T | CA457448737 | CFTR | c.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=) | |
7 | g.117540221A= | CA1737332084 | CFTR | c.991A= (p.Ile331=) c.*888A= (n.*888A=) c.*815A= (n.*815A=) c.748A= (p.Ile250=) c.901A= (p.Ile301=) c.1081A= (p.Ile361=) | |
7 | g.117540221A>C | CA368978665 | CFTR | c.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) | |
7 | g.117540221A>G | CA368978667 | CFTR | c.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) | |
7 | g.117540221A>T | CA368978669 | CFTR | c.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 |
7 | g.117540222T>A | CA327709 | CFTR | c.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 |
7 | g.117540222T>C | CA368978676 | CFTR | c.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 |
7 | g.117540222T>G | CA368978673 | CFTR | c.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) | |
7 | g.117540222T= | CA1737332087 | CFTR | c.992T= (p.Ile331=) c.*889T= (n.*889T=) c.*816T= (n.*816T=) c.749T= (p.Ile250=) c.902T= (p.Ile301=) c.1082T= (p.Ile361=) | |
7 | g.117540223C>A | CA457448738 | CFTR | c.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=) | |
7 | g.117540223C>G | CA368978678 | CFTR | c.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) | |
7 | g.117540223C>T | CA457448739 | CFTR | c.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 |
7 | g.117540224A>C | CA368978679 | CFTR | c.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) | |
7 | g.117540224A>G | CA368978682 | CFTR | c.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) | |
7 | g.117540224A>T | CA368978685 | CFTR | c.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) | |
7 | g.117540225T>A | CA368978687 | CFTR | c.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) | |
7 | g.117540225T>C | CA368978688 | CFTR | c.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) | |
7 | g.117540225T>G | CA368978691 | CFTR | c.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) | |
7 | g.117540226C>A | CA457448740 | CFTR | c.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 |
7 | g.117540226C>G | CA368978693 | CFTR | c.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) | |
7 | g.117540226C>T | CA457448741 | CFTR | c.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 |
7 | g.117540227C>A | CA368978696 | CFTR | c.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) | |
7 | g.117540227C= | CA1737332092 | CFTR | c.997C= (p.Leu333=) c.*894C= (n.*894C=) c.*821C= (n.*821C=) c.754C= (p.Leu252=) c.907C= (p.Leu303=) c.1087C= (p.Leu363=) | |
7 | g.117540227C>G | CA368978724 | CFTR | c.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) | |
7 | g.117540227C>T | CA260262 | CFTR | c.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 |
7 | g.117540228T>A | CA368978727 | CFTR | c.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 |
7 | g.117540228T>C | CA368978731 | CFTR | c.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 |
7 | g.117540228T>G | CA368978730 | CFTR | c.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) | |
7 | g.117540229C>A | CA457448742 | CFTR | c.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=) | |
7 | g.117540229C>G | CA457448743 | CFTR | c.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=) | |
7 | g.117540229C>T | CA457448744 | CFTR | c.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 |
7 | g.117540230C>A | CA457448745 | CFTR | c.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=) | |
7 | g.117540230C= | CA1737332096 | CFTR | c.1000C= (p.Arg334=) c.*897C= (n.*897C=) c.*824C= (n.*824C=) c.757C= (p.Arg253=) c.910C= (p.Arg304=) c.1090C= (p.Arg364=) | |
7 | g.117540230C>G | CA368978733 | CFTR | c.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) | |
7 | g.117540230C>T | CA340644 | CFTR | c.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 |
7 | g.117540231G>A | CA326358 | CFTR | c.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 |
7 | g.117540231G>C | CA368978737 | CFTR | c.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) | |
7 | g.117540231G= | CA1737332108 | CFTR | c.1001G= (p.Arg334=) c.*898G= (n.*898G=) c.*825G= (n.*825G=) c.758G= (p.Arg253=) c.911G= (p.Arg304=) c.1091G= (p.Arg364=) | |
7 | g.117540231G>T | CA326360 | CFTR | c.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 |
7 | g.117540232G>A | CA164953708 | CFTR | c.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 |
7 | g.117540232G>C | CA457448746 | CFTR | c.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=) | |
7 | g.117540232G= | CA1737332123 | CFTR | c.1002G= (p.Arg334=) c.*899G= (n.*899G=) c.*826G= (n.*826G=) c.759G= (p.Arg253=) c.912G= (p.Arg304=) c.1092G= (p.Arg364=) | |
7 | g.117540232G>T | CA457448747 | CFTR | c.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=) | |
7 | g.117540233A= | CA1737332131 | CFTR | c.1003A= (p.Lys335=) c.*900A= (n.*900A=) c.*827A= (n.*827A=) c.760A= (p.Lys254=) c.913A= (p.Lys305=) c.1093A= (p.Lys365=) | |
7 | g.117540233A>C | CA368978740 | CFTR | c.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) | |
7 | g.117540233A>G | CA368978742 | CFTR | c.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 |
7 | g.117540233A>T | CA368978744 | CFTR | c.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) | |
7 | g.117540236del | CA2695208308 | CFTR | c.1006del (p.Ile336TyrfsTer?) c.*903del (n.*903del) c.*830del (n.*830del) c.763del (p.Ile255TyrfsTer?) c.916del (p.Ile306TyrfsTer?) c.1096del (p.Ile366TyrfsTer?) | |
7 | g.117540234A>C | CA368978745 | CFTR | c.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) | |
7 | g.117540234A>G | CA368978747 | CFTR | c.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) | |
7 | g.117540234A>T | CA368978748 | CFTR | c.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 |
7 | g.117540235A= | CA1737332135 | CFTR | c.1005A= (p.Lys335=) c.*902A= (n.*902A=) c.*829A= (n.*829A=) c.762A= (p.Lys254=) c.915A= (p.Lys305=) c.1095A= (p.Lys365=) | |
7 | g.117540235A>C | CA368978751 | CFTR | c.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) | |
7 | g.117540235A>G | CA457448748 | CFTR | c.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=) | |
7 | g.117540235A>T | CA368978750 | CFTR | c.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) | |
7 | g.117540236A= | CA1737332152 | CFTR | c.1006A= (p.Ile336=) c.*903A= (n.*903A=) c.*830A= (n.*830A=) c.763A= (p.Ile255=) c.916A= (p.Ile306=) c.1096A= (p.Ile366=) | |
7 | g.117540236A>C | CA368978752 | CFTR | c.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) | |
7 | g.117540236A>G | CA368978754 | CFTR | c.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) | |
7 | g.117540236A>T | CA368978756 | CFTR | c.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) | |
7 | g.117540238_117540249dup | CA326363 | CFTR | c.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 |
7 | g.117540236_117540237insG | CA326362 | CFTR | c.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 |
7 | g.117540237T>A | CA345302 | CFTR | c.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 |
7 | g.117540237T>C | CA4450876 | CFTR | c.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 |
7 | g.117540237T>G | CA368978760 | CFTR | c.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) | |
7 | g.117540237T= | CA1737332163 | CFTR | c.1007T= (p.Ile336=) c.*904T= (n.*904T=) c.*831T= (n.*831T=) c.764T= (p.Ile255=) c.917T= (p.Ile306=) c.1097T= (p.Ile366=) | |
7 | g.117540238A>C | CA457448749 | CFTR | c.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=) | |
7 | g.117540238A>G | CA368978762 | CFTR | c.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) | |
7 | g.117540238A>T | CA457448750 | CFTR | c.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=) | |
7 | g.117540239T>A | CA368978763 | CFTR | c.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) | |
7 | g.117540239T>C | CA368978764 | CFTR | c.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 |
7 | g.117540239T>G | CA4450877 | CFTR | c.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 |
7 | g.117540239T= | CA1737332173 | CFTR | c.1009T= (p.Phe337=) c.*906T= (n.*906T=) c.*833T= (n.*833T=) c.766T= (p.Phe256=) c.919T= (p.Phe307=) c.1099T= (p.Phe367=) | |
7 | g.117540240T>A | CA368978769 | CFTR | c.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) | |
7 | g.117540240T>C | CA368978770 | CFTR | c.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) | |
7 | g.117540240T>G | CA368978767 | CFTR | c.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) | |
7 | g.117540241C>A | CA368978773 | CFTR | c.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 |
7 | g.117540241C= | CA1737332178 | CFTR | c.1011C= (p.Phe337=) c.*908C= (n.*908C=) c.*835C= (n.*835C=) c.768C= (p.Phe256=) c.921C= (p.Phe307=) c.1101C= (p.Phe367=) | |
7 | g.117540241C>G | CA368978771 | CFTR | c.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 |
7 | g.117540241C>T | CA457448751 | CFTR | c.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=) | |
7 | g.117540242_117540243del | CA2580076458 | CFTR | c.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 |
7 | g.117540246_117540248del | CA2695208309 | CFTR | c.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) | |
7 | g.117540242A= | CA1737332183 | CFTR | c.1012A= (p.Thr338=) c.*909A= (n.*909A=) c.*836A= (n.*836A=) c.769A= (p.Thr257=) c.922A= (p.Thr308=) c.1102A= (p.Thr368=) | |
7 | g.117540242A>C | CA368978777 | CFTR | c.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) | |
7 | g.117540242A>G | CA326367 | CFTR | c.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 |
7 | g.117540242A>T | CA368978776 | CFTR | c.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) | |
7 | g.117540243C>A | CA368978779 | CFTR | c.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 |
7 | g.117540243C= | CA1737332199 | CFTR | c.1013C= (p.Thr338=) c.*910C= (n.*910C=) c.*837C= (n.*837C=) c.770C= (p.Thr257=) c.923C= (p.Thr308=) c.1103C= (p.Thr368=) | |
7 | g.117540243C>G | CA368978781 | CFTR | c.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) | |
7 | g.117540243C>T | CA325581 | CFTR | c.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 |
7 | g.117540244C>A | CA164953748 | CFTR | c.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 |
7 | g.117540244C= | CA1737332206 | CFTR | c.1014C= (p.Thr338=) c.*911C= (n.*911C=) c.*838C= (n.*838C=) c.771C= (p.Thr257=) c.924C= (p.Thr308=) c.1104C= (p.Thr368=) | |
7 | g.117540244C>G | CA457448752 | CFTR | c.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=) | |
7 | g.117540244C>T | CA457448753 | CFTR | c.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 |
7 | g.117540245A>C | CA368978783 | CFTR | c.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) | |
7 | g.117540245A>G | CA368978785 | CFTR | c.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) | |
7 | g.117540245A>T | CA368978787 | CFTR | c.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) | |
7 | g.117540246C>A | CA368978788 | CFTR | c.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 |
7 | g.117540246C>G | CA368978789 | CFTR | c.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 |
7 | g.117540246C>T | CA368978791 | CFTR | c.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) | |
7 | g.117540247C>A | CA457448754 | CFTR | c.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 |
7 | g.117540247C= | CA1737332211 | CFTR | c.1017C= (p.Thr339=) c.*914C= (n.*914C=) c.*841C= (n.*841C=) c.774C= (p.Thr258=) c.927C= (p.Thr309=) c.1107C= (p.Thr369=) | |
7 | g.117540247C>G | CA457448755 | CFTR | c.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=) | |
7 | g.117540247C>T | CA457448756 | CFTR | c.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 |
7 | g.117540247_117540248delinsCA | CA1737332212 | CFTR | c.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=) | |
7 | g.117540248del | CA326369 | CFTR | c.1018del (p.Ile340SerfsTer29) c.*915del (n.*915del) c.*842del (n.*842del) c.775del (p.Ile259SerfsTer29) c.928del (p.Ile310SerfsTer29) c.1108del (p.Ile370SerfsTer29) | dbSNP |
7 | g.117540248A= | CA1737332217 | CFTR | c.1018A= (p.Ile340=) c.*915A= (n.*915A=) c.*842A= (n.*842A=) c.775A= (p.Ile259=) c.928A= (p.Ile310=) c.1108A= (p.Ile370=) | |
7 | g.117540248A>C | CA368978795 | CFTR | c.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) | |
7 | g.117540248A>G | CA164953763 | CFTR | c.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 |
7 | g.117540248A>T | CA368978793 | CFTR | c.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) | |
7 | g.117540249T>A | CA368978798 | CFTR | c.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 |
7 | g.117540249T>C | CA368978799 | CFTR | c.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) | |
7 | g.117540249T>G | CA368978801 | CFTR | c.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) | |
7 | g.117540249T= | CA1737332226 | CFTR | c.1019T= (p.Ile340=) c.*916T= (n.*916T=) c.*843T= (n.*843T=) c.776T= (p.Ile259=) c.929T= (p.Ile310=) c.1109T= (p.Ile370=) | |
7 | g.117540251_117540252dup | CA340640 | CFTR | c.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 |
7 | g.117540250C>A | CA457448758 | CFTR | c.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=) | |
7 | g.117540250C>G | CA368978803 | CFTR | c.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 |
7 | g.117540250C>T | CA457448757 | CFTR | c.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=) | ClinVar |
7 | g.117540251T>A | CA368978805 | CFTR | c.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) | |
7 | g.117540251T>C | CA328077 | CFTR | c.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 |
7 | g.117540251T>G | CA368978807 | CFTR | c.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) | |
7 | g.117540251T= | CA1737332236 | CFTR | c.1021T= (p.Ser341=) c.*918T= (n.*918T=) c.*845T= (n.*845T=) c.778T= (p.Ser260=) c.931T= (p.Ser311=) c.1111T= (p.Ser371=) | |
7 | g.117540252C>A | CA368978808 | CFTR | c.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) | |
7 | g.117540252C>G | CA368978809 | CFTR | c.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) | |
7 | g.117540252C>T | CA368978810 | CFTR | c.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) | |
7 | g.117540252dup | CA1737332247 | CFTR | c.1022dup (p.Phe342IlefsTer22) c.*919dup (n.*919dup) c.*846dup (n.*846dup) c.779dup (p.Phe261IlefsTer22) c.932dup (p.Phe312IlefsTer22) c.1112dup (p.Phe372IlefsTer22) | dbSNP |
7 | g.117540253A= | CA1737332250 | CFTR | c.1023A= (p.Ser341=) c.*920A= (n.*920A=) c.*847A= (n.*847A=) c.780A= (p.Ser260=) c.933A= (p.Ser311=) c.1113A= (p.Ser371=) | |
7 | g.117540253A>C | CA457448759 | CFTR | c.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 |
7 | g.117540253A>G | CA164953797 | CFTR | c.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 |
7 | g.117540253A>T | CA457448760 | CFTR | c.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=) |