| 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.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.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=) | |
| 7 | g.117540254T>A | CA368978815 | CFTR | c.1024T>A (p.Phe342Ile) c.*921T>A (n.*921T>A) c.*848T>A (n.*848T>A) c.781T>A (p.Phe261Ile) c.934T>A (p.Phe312Ile) c.1114T>A (p.Phe372Ile) | |
| 7 | g.117540254T>C | CA368978813 | CFTR | c.1024T>C (p.Phe342Leu) c.*921T>C (n.*921T>C) c.*848T>C (n.*848T>C) c.781T>C (p.Phe261Leu) c.934T>C (p.Phe312Leu) c.1114T>C (p.Phe372Leu) | |
| 7 | g.117540254T>G | CA368978814 | CFTR | c.1024T>G (p.Phe342Val) c.*921T>G (n.*921T>G) c.*848T>G (n.*848T>G) c.781T>G (p.Phe261Val) c.934T>G (p.Phe312Val) c.1114T>G (p.Phe372Val) | |
| 7 | g.117540255T>A | CA368978817 | CFTR | c.1025T>A (p.Phe342Tyr) c.*922T>A (n.*922T>A) c.*849T>A (n.*849T>A) c.782T>A (p.Phe261Tyr) c.935T>A (p.Phe312Tyr) c.1115T>A (p.Phe372Tyr) | |
| 7 | g.117540255T>C | CA368978818 | CFTR | c.1025T>C (p.Phe342Ser) c.*922T>C (n.*922T>C) c.*849T>C (n.*849T>C) c.782T>C (p.Phe261Ser) c.935T>C (p.Phe312Ser) c.1115T>C (p.Phe372Ser) | |
| 7 | g.117540255T>G | CA368978820 | CFTR | c.1025T>G (p.Phe342Cys) c.*922T>G (n.*922T>G) c.*849T>G (n.*849T>G) c.782T>G (p.Phe261Cys) c.935T>G (p.Phe312Cys) c.1115T>G (p.Phe372Cys) | |
| 7 | g.117540256_117540257dup | CA2573332342 | CFTR | c.1026_1027dup (p.Cys343SerfsTer27) c.*923_*924dup (n.*923_*924dup) c.*850_*851dup (n.*850_*851dup) c.783_784dup (p.Cys262SerfsTer27) c.936_937dup (p.Cys313SerfsTer27) c.1116_1117dup (p.Cys373SerfsTer27) | |
| 7 | g.117540256C>A | CA368978822 | CFTR | c.1026C>A (p.Phe342Leu) c.*923C>A (n.*923C>A) c.*850C>A (n.*850C>A) c.783C>A (p.Phe261Leu) c.936C>A (p.Phe312Leu) c.1116C>A (p.Phe372Leu) | |
| 7 | g.117540256C= | CA1737332253 | CFTR | c.1026C= (p.Phe342=) c.*923C= (n.*923C=) c.*850C= (n.*850C=) c.783C= (p.Phe261=) c.936C= (p.Phe312=) c.1116C= (p.Phe372=) | |
| 7 | g.117540256C>G | CA368978823 | CFTR | c.1026C>G (p.Phe342Leu) c.*923C>G (n.*923C>G) c.*850C>G (n.*850C>G) c.783C>G (p.Phe261Leu) c.936C>G (p.Phe312Leu) c.1116C>G (p.Phe372Leu) | |
| 7 | g.117540256C>T | CA164953804 | CFTR | c.1026C>T (p.Phe342=) c.*923C>T (n.*923C>T) c.*850C>T (n.*850C>T) c.783C>T (p.Phe261=) c.936C>T (p.Phe312=) c.1116C>T (p.Phe372=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540257T>A | CA368978825 | CFTR | c.1027T>A (p.Cys343Ser) c.*924T>A (n.*924T>A) c.*851T>A (n.*851T>A) c.784T>A (p.Cys262Ser) c.937T>A (p.Cys313Ser) c.1117T>A (p.Cys373Ser) | |
| 7 | g.117540257T>C | CA368978826 | CFTR | c.1027T>C (p.Cys343Arg) c.*924T>C (n.*924T>C) c.*851T>C (n.*851T>C) c.784T>C (p.Cys262Arg) c.937T>C (p.Cys313Arg) c.1117T>C (p.Cys373Arg) | ClinVar dbSNP |
| 7 | g.117540257T>G | CA368978827 | CFTR | c.1027T>G (p.Cys343Gly) c.*924T>G (n.*924T>G) c.*851T>G (n.*851T>G) c.784T>G (p.Cys262Gly) c.937T>G (p.Cys313Gly) c.1117T>G (p.Cys373Gly) | |
| 7 | g.117540258G>A | CA368978829 | CFTR | c.1028G>A (p.Cys343Tyr) c.*925G>A (n.*925G>A) c.*852G>A (n.*852G>A) c.785G>A (p.Cys262Tyr) c.938G>A (p.Cys313Tyr) c.1118G>A (p.Cys373Tyr) | |
| 7 | g.117540258G>C | CA368978830 | CFTR | c.1028G>C (p.Cys343Ser) c.*925G>C (n.*925G>C) c.*852G>C (n.*852G>C) c.785G>C (p.Cys262Ser) c.938G>C (p.Cys313Ser) c.1118G>C (p.Cys373Ser) | |
| 7 | g.117540258G= | CA1737332258 | CFTR | c.1028G= (p.Cys343=) c.*925G= (n.*925G=) c.*852G= (n.*852G=) c.785G= (p.Cys262=) c.938G= (p.Cys313=) c.1118G= (p.Cys373=) | |
| 7 | g.117540258G>T | CA4450878 | CFTR | c.1028G>T (p.Cys343Phe) c.*925G>T (n.*925G>T) c.*852G>T (n.*852G>T) c.785G>T (p.Cys262Phe) c.938G>T (p.Cys313Phe) c.1118G>T (p.Cys373Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117540258_117540259delinsGC | CA1737332257 | CFTR | c.1028_1029delinsGC (p.Cys343=) c.*925_*926delinsGC (n.*925_*926delinsGC) c.*852_*853delinsGC (n.*852_*853delinsGC) c.785_786delinsGC (p.Cys262=) c.938_939delinsGC (p.Cys313=) c.1118_1119delinsGC (p.Cys373=) | |
| 7 | g.117540259del | CA326371 | CFTR | c.1029del (p.Cys343Ter) c.*926del (n.*926del) c.*853del (n.*853del) c.786del (p.Cys262Ter) c.939del (p.Cys313Ter) c.1119del (p.Cys373Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540259C>A | CA368978834 | CFTR | c.1029C>A (p.Cys343Ter) c.*926C>A (n.*926C>A) c.*853C>A (n.*853C>A) c.786C>A (p.Cys262Ter) c.939C>A (p.Cys313Ter) c.1119C>A (p.Cys373Ter) | |
| 7 | g.117540259C= | CA1737332267 | CFTR | c.1029C= (p.Cys343=) c.*926C= (n.*926C=) c.*853C= (n.*853C=) c.786C= (p.Cys262=) c.939C= (p.Cys313=) c.1119C= (p.Cys373=) | |
| 7 | g.117540259C>G | CA368978832 | CFTR | c.1029C>G (p.Cys343Trp) c.*926C>G (n.*926C>G) c.*853C>G (n.*853C>G) c.786C>G (p.Cys262Trp) c.939C>G (p.Cys313Trp) c.1119C>G (p.Cys373Trp) | |
| 7 | g.117540259C>T | CA457448761 | CFTR | c.1029C>T (p.Cys343=) c.*926C>T (n.*926C>T) c.*853C>T (n.*853C>T) c.786C>T (p.Cys262=) c.939C>T (p.Cys313=) c.1119C>T (p.Cys373=) | dbSNP |
| 7 | g.117540259_117540260insG | CA326370 | CFTR | c.1029_1030insG (p.Ile344AspfsTer20) c.*926_*927insG (n.*926_*927insG) c.*853_*854insG (n.*853_*854insG) c.786_787insG (p.Ile263AspfsTer20) c.939_940insG (p.Ile314AspfsTer20) c.1119_1120insG (p.Ile374AspfsTer20) | dbSNP |
| 7 | g.117540260A= | CA1737332275 | CFTR | c.1030A= (p.Ile344=) c.*927A= (n.*927A=) c.*854A= (n.*854A=) c.787A= (p.Ile263=) c.940A= (p.Ile314=) c.1120A= (p.Ile374=) | |
| 7 | g.117540260A>C | CA368978836 | CFTR | c.1030A>C (p.Ile344Leu) c.*927A>C (n.*927A>C) c.*854A>C (n.*854A>C) c.787A>C (p.Ile263Leu) c.940A>C (p.Ile314Leu) c.1120A>C (p.Ile374Leu) | |
| 7 | g.117540260A>G | CA4450879 | CFTR | c.1030A>G (p.Ile344Val) c.*927A>G (n.*927A>G) c.*854A>G (n.*854A>G) c.787A>G (p.Ile263Val) c.940A>G (p.Ile314Val) c.1120A>G (p.Ile374Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117540260A>T | CA368978838 | CFTR | c.1030A>T (p.Ile344Phe) c.*927A>T (n.*927A>T) c.*854A>T (n.*854A>T) c.787A>T (p.Ile263Phe) c.940A>T (p.Ile314Phe) c.1120A>T (p.Ile374Phe) | |
| 7 | g.117540261T>A | CA368978840 | CFTR | c.1031T>A (p.Ile344Asn) c.*928T>A (n.*928T>A) c.*855T>A (n.*855T>A) c.788T>A (p.Ile263Asn) c.941T>A (p.Ile314Asn) c.1121T>A (p.Ile374Asn) | |
| 7 | g.117540261T>C | CA368978842 | CFTR | c.1031T>C (p.Ile344Thr) c.*928T>C (n.*928T>C) c.*855T>C (n.*855T>C) c.788T>C (p.Ile263Thr) c.941T>C (p.Ile314Thr) c.1121T>C (p.Ile374Thr) | |
| 7 | g.117540261T>G | CA368978843 | CFTR | c.1031T>G (p.Ile344Ser) c.*928T>G (n.*928T>G) c.*855T>G (n.*855T>G) c.788T>G (p.Ile263Ser) c.941T>G (p.Ile314Ser) c.1121T>G (p.Ile374Ser) | |
| 7 | g.117540262T>A | CA457448762 | CFTR | c.1032T>A (p.Ile344=) c.*929T>A (n.*929T>A) c.*856T>A (n.*856T>A) c.789T>A (p.Ile263=) c.942T>A (p.Ile314=) c.1122T>A (p.Ile374=) | |
| 7 | g.117540262T>C | CA164953827 | CFTR | c.1032T>C (p.Ile344=) c.*929T>C (n.*929T>C) c.*856T>C (n.*856T>C) c.789T>C (p.Ile263=) c.942T>C (p.Ile314=) c.1122T>C (p.Ile374=) | ClinVar dbSNP |
| 7 | g.117540262T>G | CA368978845 | CFTR | c.1032T>G (p.Ile344Met) c.*929T>G (n.*929T>G) c.*856T>G (n.*856T>G) c.789T>G (p.Ile263Met) c.942T>G (p.Ile314Met) c.1122T>G (p.Ile374Met) |