UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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) | |
| 7 | g.117540262T= | CA1737332281 | CFTR | c.1032T= (p.Ile344=) c.*929T= (n.*929T=) c.*856T= (n.*856T=) c.789T= (p.Ile263=) c.942T= (p.Ile314=) c.1122T= (p.Ile374=) | |
| 7 | g.117540263G>A | CA368978847 | CFTR | c.1033G>A (p.Val345Ile) c.*930G>A (n.*930G>A) c.*857G>A (n.*857G>A) c.790G>A (p.Val264Ile) c.943G>A (p.Val315Ile) c.1123G>A (p.Val375Ile) | |
| 7 | g.117540263G>C | CA368978849 | CFTR | c.1033G>C (p.Val345Leu) c.*930G>C (n.*930G>C) c.*857G>C (n.*857G>C) c.790G>C (p.Val264Leu) c.943G>C (p.Val315Leu) c.1123G>C (p.Val375Leu) | gnomAD v4 |
| 7 | g.117540263G= | CA1737332284 | CFTR | c.1033G= (p.Val345=) c.*930G= (n.*930G=) c.*857G= (n.*857G=) c.790G= (p.Val264=) c.943G= (p.Val315=) c.1123G= (p.Val375=) | |
| 7 | g.117540263G>T | CA368978850 | CFTR | c.1033G>T (p.Val345Phe) c.*930G>T (n.*930G>T) c.*857G>T (n.*857G>T) c.790G>T (p.Val264Phe) c.943G>T (p.Val315Phe) c.1123G>T (p.Val375Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540264T>A | CA368978856 | CFTR | c.1034T>A (p.Val345Asp) c.*931T>A (n.*931T>A) c.*858T>A (n.*858T>A) c.791T>A (p.Val264Asp) c.944T>A (p.Val315Asp) c.1124T>A (p.Val375Asp) | |
| 7 | g.117540264T>C | CA368978854 | CFTR | c.1034T>C (p.Val345Ala) c.*931T>C (n.*931T>C) c.*858T>C (n.*858T>C) c.791T>C (p.Val264Ala) c.944T>C (p.Val315Ala) c.1124T>C (p.Val375Ala) | gnomAD v4 |
| 7 | g.117540264T>G | CA368978852 | CFTR | c.1034T>G (p.Val345Gly) c.*931T>G (n.*931T>G) c.*858T>G (n.*858T>G) c.791T>G (p.Val264Gly) c.944T>G (p.Val315Gly) c.1124T>G (p.Val375Gly) | |
| 7 | g.117540265T>A | CA457448763 | CFTR | c.1035T>A (p.Val345=) c.*932T>A (n.*932T>A) c.*859T>A (n.*859T>A) c.792T>A (p.Val264=) c.945T>A (p.Val315=) c.1125T>A (p.Val375=) | |
| 7 | g.117540265T>C | CA164953848 | CFTR | c.1035T>C (p.Val345=) c.*932T>C (n.*932T>C) c.*859T>C (n.*859T>C) c.792T>C (p.Val264=) c.945T>C (p.Val315=) c.1125T>C (p.Val375=) | ClinVar dbSNP |
| 7 | g.117540265T>G | CA457448764 | CFTR | c.1035T>G (p.Val345=) c.*932T>G (n.*932T>G) c.*859T>G (n.*859T>G) c.792T>G (p.Val264=) c.945T>G (p.Val315=) c.1125T>G (p.Val375=) | |
| 7 | g.117540265T= | CA1737332287 | CFTR | c.1035T= (p.Val345=) c.*932T= (n.*932T=) c.*859T= (n.*859T=) c.792T= (p.Val264=) c.945T= (p.Val315=) c.1125T= (p.Val375=) | |
| 7 | g.117540266C>A | CA368978860 | CFTR | c.1036C>A (p.Leu346Met) c.*933C>A (n.*933C>A) c.*860C>A (n.*860C>A) c.793C>A (p.Leu265Met) c.946C>A (p.Leu316Met) c.1126C>A (p.Leu376Met) | gnomAD v4 |
| 7 | g.117540266C= | CA1737332291 | CFTR | c.1036C= (p.Leu346=) c.*933C= (n.*933C=) c.*860C= (n.*860C=) c.793C= (p.Leu265=) c.946C= (p.Leu316=) c.1126C= (p.Leu376=) | |
| 7 | g.117540266C>G | CA368978859 | CFTR | c.1036C>G (p.Leu346Val) c.*933C>G (n.*933C>G) c.*860C>G (n.*860C>G) c.793C>G (p.Leu265Val) c.946C>G (p.Leu316Val) c.1126C>G (p.Leu376Val) | |
| 7 | g.117540266C>T | CA4450880 | CFTR | c.1036C>T (p.Leu346=) c.*933C>T (n.*933C>T) c.*860C>T (n.*860C>T) c.793C>T (p.Leu265=) c.946C>T (p.Leu316=) c.1126C>T (p.Leu376=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540267T>A | CA368978862 | CFTR | c.1037T>A (p.Leu346Gln) c.*934T>A (n.*934T>A) c.*861T>A (n.*861T>A) c.794T>A (p.Leu265Gln) c.947T>A (p.Leu316Gln) c.1127T>A (p.Leu376Gln) | |
| 7 | g.117540267T>C | CA326372 | CFTR | c.1037T>C (p.Leu346Pro) c.*934T>C (n.*934T>C) c.*861T>C (n.*861T>C) c.794T>C (p.Leu265Pro) c.947T>C (p.Leu316Pro) c.1127T>C (p.Leu376Pro) | ClinVar dbSNP |
| 7 | g.117540267T>G | CA368978864 | CFTR | c.1037T>G (p.Leu346Arg) c.*934T>G (n.*934T>G) c.*861T>G (n.*861T>G) c.794T>G (p.Leu265Arg) c.947T>G (p.Leu316Arg) c.1127T>G (p.Leu376Arg) | |
| 7 | g.117540267T= | CA1737332302 | CFTR | c.1037T= (p.Leu346=) c.*934T= (n.*934T=) c.*861T= (n.*861T=) c.794T= (p.Leu265=) c.947T= (p.Leu316=) c.1127T= (p.Leu376=) | |
| 7 | g.117540268G>A | CA457448765 | CFTR | c.1038G>A (p.Leu346=) c.*935G>A (n.*935G>A) c.*862G>A (n.*862G>A) c.795G>A (p.Leu265=) c.948G>A (p.Leu316=) c.1128G>A (p.Leu376=) | ClinVar dbSNP |
| 7 | g.117540268G>C | CA457448766 | CFTR | c.1038G>C (p.Leu346=) c.*935G>C (n.*935G>C) c.*862G>C (n.*862G>C) c.795G>C (p.Leu265=) c.948G>C (p.Leu316=) c.1128G>C (p.Leu376=) | gnomAD v4 |
| 7 | g.117540268G>T | CA457448767 | CFTR | c.1038G>T (p.Leu346=) c.*935G>T (n.*935G>T) c.*862G>T (n.*862G>T) c.795G>T (p.Leu265=) c.948G>T (p.Leu316=) c.1128G>T (p.Leu376=) | |
| 7 | g.117540269C>A | CA164953854 | CFTR | c.1039C>A (p.Arg347Ser) c.*936C>A (n.*936C>A) c.*863C>A (n.*863C>A) c.796C>A (p.Arg266Ser) c.949C>A (p.Arg317Ser) c.1129C>A (p.Arg377Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540269C= | CA1737332310 | CFTR | c.1039C= (p.Arg347=) c.*936C= (n.*936C=) c.*863C= (n.*863C=) c.796C= (p.Arg266=) c.949C= (p.Arg317=) c.1129C= (p.Arg377=) | |
| 7 | g.117540269C>G | CA368978866 | CFTR | c.1039C>G (p.Arg347Gly) c.*936C>G (n.*936C>G) c.*863C>G (n.*863C>G) c.796C>G (p.Arg266Gly) c.949C>G (p.Arg317Gly) c.1129C>G (p.Arg377Gly) | |
| 7 | g.117540269C>T | CA326373 | CFTR | c.1039C>T (p.Arg347Cys) c.*936C>T (n.*936C>T) c.*863C>T (n.*863C>T) c.796C>T (p.Arg266Cys) c.949C>T (p.Arg317Cys) c.1129C>T (p.Arg377Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117540270G>A | CA340652 | CFTR | c.1040G>A (p.Arg347His) c.*937G>A (n.*937G>A) c.*864G>A (n.*864G>A) c.797G>A (p.Arg266His) c.950G>A (p.Arg317His) c.1130G>A (p.Arg377His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117540270G>C | CA340630 | CFTR | c.1040G>C (p.Arg347Pro) c.*937G>C (n.*937G>C) c.*864G>C (n.*864G>C) c.797G>C (p.Arg266Pro) c.950G>C (p.Arg317Pro) c.1130G>C (p.Arg377Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540270G= | CA1737332328 | CFTR | c.1040G= (p.Arg347=) c.*937G= (n.*937G=) c.*864G= (n.*864G=) c.797G= (p.Arg266=) c.950G= (p.Arg317=) c.1130G= (p.Arg377=) | |
| 7 | g.117540270G>T | CA325561 | CFTR | c.1040G>T (p.Arg347Leu) c.*937G>T (n.*937G>T) c.*864G>T (n.*864G>T) c.797G>T (p.Arg266Leu) c.950G>T (p.Arg317Leu) c.1130G>T (p.Arg377Leu) | ClinVar dbSNP |
| 7 | g.117540271C>A | CA457448768 | CFTR | c.1041C>A (p.Arg347=) c.*938C>A (n.*938C>A) c.*865C>A (n.*865C>A) c.798C>A (p.Arg266=) c.951C>A (p.Arg317=) c.1131C>A (p.Arg377=) | |
| 7 | g.117540271C>G | CA457448770 | CFTR | c.1041C>G (p.Arg347=) c.*938C>G (n.*938C>G) c.*865C>G (n.*865C>G) c.798C>G (p.Arg266=) c.951C>G (p.Arg317=) c.1131C>G (p.Arg377=) | ClinVar dbSNP |
| 7 | g.117540271C>T | CA457448769 | CFTR | c.1041C>T (p.Arg347=) c.*938C>T (n.*938C>T) c.*865C>T (n.*865C>T) c.798C>T (p.Arg266=) c.951C>T (p.Arg317=) c.1131C>T (p.Arg377=) | gnomAD v4 |
| 7 | g.117540272A= | CA1737332338 | CFTR | c.1042A= (p.Met348=) c.*939A= (n.*939A=) c.*866A= (n.*866A=) c.799A= (p.Met267=) c.952A= (p.Met318=) c.1132A= (p.Met378=) | |
| 7 | g.117540272A>C | CA368978873 | CFTR | c.1042A>C (p.Met348Leu) c.*939A>C (n.*939A>C) c.*866A>C (n.*866A>C) c.799A>C (p.Met267Leu) c.952A>C (p.Met318Leu) c.1132A>C (p.Met378Leu) | |
| 7 | g.117540272A>G | CA368978872 | CFTR | c.1042A>G (p.Met348Val) c.*939A>G (n.*939A>G) c.*866A>G (n.*866A>G) c.799A>G (p.Met267Val) c.952A>G (p.Met318Val) c.1132A>G (p.Met378Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540272A>T | CA368978871 | CFTR | c.1042A>T (p.Met348Leu) c.*939A>T (n.*939A>T) c.*866A>T (n.*866A>T) c.799A>T (p.Met267Leu) c.952A>T (p.Met318Leu) c.1132A>T (p.Met378Leu) | |
| 7 | g.117540273T>A | CA326375 | CFTR | c.1043T>A (p.Met348Lys) c.*940T>A (n.*940T>A) c.*867T>A (n.*867T>A) c.800T>A (p.Met267Lys) c.953T>A (p.Met318Lys) c.1133T>A (p.Met378Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540273T>C | CA368978875 | CFTR | c.1043T>C (p.Met348Thr) c.*940T>C (n.*940T>C) c.*867T>C (n.*867T>C) c.800T>C (p.Met267Thr) c.953T>C (p.Met318Thr) c.1133T>C (p.Met378Thr) | ClinVar gnomAD v4 |
| 7 | g.117540273T>G | CA368978876 | CFTR | c.1043T>G (p.Met348Arg) c.*940T>G (n.*940T>G) c.*867T>G (n.*867T>G) c.800T>G (p.Met267Arg) c.953T>G (p.Met318Arg) c.1133T>G (p.Met378Arg) | |
| 7 | g.117540273T= | CA1737332341 | CFTR | c.1043T= (p.Met348=) c.*940T= (n.*940T=) c.*867T= (n.*867T=) c.800T= (p.Met267=) c.953T= (p.Met318=) c.1133T= (p.Met378=) | |
| 7 | g.117540274G>A | CA368978878 | CFTR | c.1044G>A (p.Met348Ile) c.*941G>A (n.*941G>A) c.*868G>A (n.*868G>A) c.801G>A (p.Met267Ile) c.954G>A (p.Met318Ile) c.1134G>A (p.Met378Ile) | |
| 7 | g.117540274G>C | CA368978879 | CFTR | c.1044G>C (p.Met348Ile) c.*941G>C (n.*941G>C) c.*868G>C (n.*868G>C) c.801G>C (p.Met267Ile) c.954G>C (p.Met318Ile) c.1134G>C (p.Met378Ile) | |
| 7 | g.117540274G>T | CA368978880 | CFTR | c.1044G>T (p.Met348Ile) c.*941G>T (n.*941G>T) c.*868G>T (n.*868G>T) c.801G>T (p.Met267Ile) c.954G>T (p.Met318Ile) c.1134G>T (p.Met378Ile) | |
| 7 | g.117540275G>A | CA368978882 | CFTR | c.1045G>A (p.Ala349Thr) c.*942G>A (n.*942G>A) c.*869G>A (n.*869G>A) c.802G>A (p.Ala268Thr) c.955G>A (p.Ala319Thr) c.1135G>A (p.Ala379Thr) | dbSNP |
| 7 | g.117540275G>C | CA368978884 | CFTR | c.1045G>C (p.Ala349Pro) c.*942G>C (n.*942G>C) c.*869G>C (n.*869G>C) c.802G>C (p.Ala268Pro) c.955G>C (p.Ala319Pro) c.1135G>C (p.Ala379Pro) | ClinVar dbSNP |
| 7 | g.117540275G= | CA1737332345 | CFTR | c.1045G= (p.Ala349=) c.*942G= (n.*942G=) c.*869G= (n.*869G=) c.802G= (p.Ala268=) c.955G= (p.Ala319=) c.1135G= (p.Ala379=) | |
| 7 | g.117540275G>T | CA368978885 | CFTR | c.1045G>T (p.Ala349Ser) c.*942G>T (n.*942G>T) c.*869G>T (n.*869G>T) c.802G>T (p.Ala268Ser) c.955G>T (p.Ala319Ser) c.1135G>T (p.Ala379Ser) | |
| 7 | g.117540276C>A | CA368978887 | CFTR | c.1046C>A (p.Ala349Glu) c.*943C>A (n.*943C>A) c.*870C>A (n.*870C>A) c.803C>A (p.Ala268Glu) c.956C>A (p.Ala319Glu) c.1136C>A (p.Ala379Glu) | |
| 7 | g.117540276C= | CA1737332352 | CFTR | c.1046C= (p.Ala349=) c.*943C= (n.*943C=) c.*870C= (n.*870C=) c.803C= (p.Ala268=) c.956C= (p.Ala319=) c.1136C= (p.Ala379=) | |
| 7 | g.117540276C>G | CA368978888 | CFTR | c.1046C>G (p.Ala349Gly) c.*943C>G (n.*943C>G) c.*870C>G (n.*870C>G) c.803C>G (p.Ala268Gly) c.956C>G (p.Ala319Gly) c.1136C>G (p.Ala379Gly) | |
| 7 | g.117540276C>T | CA325562 | CFTR | c.1046C>T (p.Ala349Val) c.*943C>T (n.*943C>T) c.*870C>T (n.*870C>T) c.803C>T (p.Ala268Val) c.956C>T (p.Ala319Val) c.1136C>T (p.Ala379Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540277G>A | CA4450881 | CFTR | c.1047G>A (p.Ala349=) c.*944G>A (n.*944G>A) c.*871G>A (n.*871G>A) c.804G>A (p.Ala268=) c.957G>A (p.Ala319=) c.1137G>A (p.Ala379=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540277G>C | CA457448771 | CFTR | c.1047G>C (p.Ala349=) c.*944G>C (n.*944G>C) c.*871G>C (n.*871G>C) c.804G>C (p.Ala268=) c.957G>C (p.Ala319=) c.1137G>C (p.Ala379=) | |
| 7 | g.117540277G= | CA1737332369 | CFTR | c.1047G= (p.Ala349=) c.*944G= (n.*944G=) c.*871G= (n.*871G=) c.804G= (p.Ala268=) c.957G= (p.Ala319=) c.1137G= (p.Ala379=) | |
| 7 | g.117540277G>T | CA457448772 | CFTR | c.1047G>T (p.Ala349=) c.*944G>T (n.*944G>T) c.*871G>T (n.*871G>T) c.804G>T (p.Ala268=) c.957G>T (p.Ala319=) c.1137G>T (p.Ala379=) | ClinVar dbSNP |
| 7 | g.117540278G>A | CA368978893 | CFTR | c.1048G>A (p.Val350Ile) c.*945G>A (n.*945G>A) c.*872G>A (n.*872G>A) c.805G>A (p.Val269Ile) c.958G>A (p.Val320Ile) c.1138G>A (p.Val380Ile) | |
| 7 | g.117540278G>C | CA368978895 | CFTR | c.1048G>C (p.Val350Leu) c.*945G>C (n.*945G>C) c.*872G>C (n.*872G>C) c.805G>C (p.Val269Leu) c.958G>C (p.Val320Leu) c.1138G>C (p.Val380Leu) | |
| 7 | g.117540278G>T | CA368978892 | CFTR | c.1048G>T (p.Val350Phe) c.*945G>T (n.*945G>T) c.*872G>T (n.*872G>T) c.805G>T (p.Val269Phe) c.958G>T (p.Val320Phe) c.1138G>T (p.Val380Phe) | |
| 7 | g.117540279T>A | CA368978897 | CFTR | c.1049T>A (p.Val350Asp) c.*946T>A (n.*946T>A) c.*873T>A (n.*873T>A) c.806T>A (p.Val269Asp) c.959T>A (p.Val320Asp) c.1139T>A (p.Val380Asp) | |
| 7 | g.117540279T>C | CA368978899 | CFTR | c.1049T>C (p.Val350Ala) c.*946T>C (n.*946T>C) c.*873T>C (n.*873T>C) c.806T>C (p.Val269Ala) c.959T>C (p.Val320Ala) c.1139T>C (p.Val380Ala) | |
| 7 | g.117540279T>G | CA368978900 | CFTR | c.1049T>G (p.Val350Gly) c.*946T>G (n.*946T>G) c.*873T>G (n.*873T>G) c.806T>G (p.Val269Gly) c.959T>G (p.Val320Gly) c.1139T>G (p.Val380Gly) | |
| 7 | g.117540280C>A | CA457448774 | CFTR | c.1050C>A (p.Val350=) c.*947C>A (n.*947C>A) c.*874C>A (n.*874C>A) c.807C>A (p.Val269=) c.960C>A (p.Val320=) c.1140C>A (p.Val380=) | |
| 7 | g.117540280C= | CA1737332382 | CFTR | c.1050C= (p.Val350=) c.*947C= (n.*947C=) c.*874C= (n.*874C=) c.807C= (p.Val269=) c.960C= (p.Val320=) c.1140C= (p.Val380=) | |
| 7 | g.117540280C>G | CA164953945 | CFTR | c.1050C>G (p.Val350=) c.*947C>G (n.*947C>G) c.*874C>G (n.*874C>G) c.807C>G (p.Val269=) c.960C>G (p.Val320=) c.1140C>G (p.Val380=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540280C>T | CA457448773 | CFTR | c.1050C>T (p.Val350=) c.*947C>T (n.*947C>T) c.*874C>T (n.*874C>T) c.807C>T (p.Val269=) c.960C>T (p.Val320=) c.1140C>T (p.Val380=) | ClinVar gnomAD v4 |
| 7 | g.117540281A= | CA1737332391 | CFTR | c.1051A= (p.Thr351=) c.*948A= (n.*948A=) c.*875A= (n.*875A=) c.808A= (p.Thr270=) c.961A= (p.Thr321=) c.1141A= (p.Thr381=) | |
| 7 | g.117540281A>C | CA368978901 | CFTR | c.1051A>C (p.Thr351Pro) c.*948A>C (n.*948A>C) c.*875A>C (n.*875A>C) c.808A>C (p.Thr270Pro) c.961A>C (p.Thr321Pro) c.1141A>C (p.Thr381Pro) | |
| 7 | g.117540281A>G | CA368978902 | CFTR | c.1051A>G (p.Thr351Ala) c.*948A>G (n.*948A>G) c.*875A>G (n.*875A>G) c.808A>G (p.Thr270Ala) c.961A>G (p.Thr321Ala) c.1141A>G (p.Thr381Ala) | ClinVar dbSNP |
| 7 | g.117540281A>T | CA368978904 | CFTR | c.1051A>T (p.Thr351Ser) c.*948A>T (n.*948A>T) c.*875A>T (n.*875A>T) c.808A>T (p.Thr270Ser) c.961A>T (p.Thr321Ser) c.1141A>T (p.Thr381Ser) | gnomAD v4 |
| 7 | g.117540282C>A | CA368978907 | CFTR | c.1052C>A (p.Thr351Asn) c.*949C>A (n.*949C>A) c.*876C>A (n.*876C>A) c.809C>A (p.Thr270Asn) c.962C>A (p.Thr321Asn) c.1142C>A (p.Thr381Asn) | |
| 7 | g.117540282C= | CA1737332399 | CFTR | c.1052C= (p.Thr351=) c.*949C= (n.*949C=) c.*876C= (n.*876C=) c.809C= (p.Thr270=) c.962C= (p.Thr321=) c.1142C= (p.Thr381=) | |
| 7 | g.117540282C>G | CA326377 | CFTR | c.1052C>G (p.Thr351Ser) c.*949C>G (n.*949C>G) c.*876C>G (n.*876C>G) c.809C>G (p.Thr270Ser) c.962C>G (p.Thr321Ser) c.1142C>G (p.Thr381Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540282C>T | CA4450882 | CFTR | c.1052C>T (p.Thr351Ile) c.*949C>T (n.*949C>T) c.*876C>T (n.*876C>T) c.809C>T (p.Thr270Ile) c.962C>T (p.Thr321Ile) c.1142C>T (p.Thr381Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540283_117540284del | CA2695208310 | CFTR | c.1053_1054del (p.Arg352AlafsTer11) c.*950_*951del (n.*950_*951del) c.*877_*878del (n.*877_*878del) c.810_811del (p.Arg271AlafsTer11) c.963_964del (p.Arg322AlafsTer11) c.1143_1144del (p.Arg382AlafsTer11) | |
| 7 | g.117540283T>A | CA457448775 | CFTR | c.1053T>A (p.Thr351=) c.*950T>A (n.*950T>A) c.*877T>A (n.*877T>A) c.810T>A (p.Thr270=) c.963T>A (p.Thr321=) c.1143T>A (p.Thr381=) | gnomAD v4 |
| 7 | g.117540283T>C | CA457448776 | CFTR | c.1053T>C (p.Thr351=) c.*950T>C (n.*950T>C) c.*877T>C (n.*877T>C) c.810T>C (p.Thr270=) c.963T>C (p.Thr321=) c.1143T>C (p.Thr381=) | |
| 7 | g.117540283T>G | CA457448777 | CFTR | c.1053T>G (p.Thr351=) c.*950T>G (n.*950T>G) c.*877T>G (n.*877T>G) c.810T>G (p.Thr270=) c.963T>G (p.Thr321=) c.1143T>G (p.Thr381=) | |
| 7 | g.117540284C>A | CA457448778 | CFTR | c.1054C>A (p.Arg352=) c.*951C>A (n.*951C>A) c.*878C>A (n.*878C>A) c.811C>A (p.Arg271=) c.964C>A (p.Arg322=) c.1144C>A (p.Arg382=) | |
| 7 | g.117540284C= | CA1737332416 | CFTR | c.1054C= (p.Arg352=) c.*951C= (n.*951C=) c.*878C= (n.*878C=) c.811C= (p.Arg271=) c.964C= (p.Arg322=) c.1144C= (p.Arg382=) | |
| 7 | g.117540284C>G | CA368978908 | CFTR | c.1054C>G (p.Arg352Gly) c.*951C>G (n.*951C>G) c.*878C>G (n.*878C>G) c.811C>G (p.Arg271Gly) c.964C>G (p.Arg322Gly) c.1144C>G (p.Arg382Gly) | gnomAD v4 |
| 7 | g.117540284C>T | CA325686 | CFTR | c.1054C>T (p.Arg352Trp) c.*951C>T (n.*951C>T) c.*878C>T (n.*878C>T) c.811C>T (p.Arg271Trp) c.964C>T (p.Arg322Trp) c.1144C>T (p.Arg382Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540285G>A | CA325583 | CFTR | c.1055G>A (p.Arg352Gln) c.*952G>A (n.*952G>A) c.*879G>A (n.*879G>A) c.812G>A (p.Arg271Gln) c.965G>A (p.Arg322Gln) c.1145G>A (p.Arg382Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 7 | g.117540285G>C | CA368978911 | CFTR | c.1055G>C (p.Arg352Pro) c.*952G>C (n.*952G>C) c.*879G>C (n.*879G>C) c.812G>C (p.Arg271Pro) c.965G>C (p.Arg322Pro) c.1145G>C (p.Arg382Pro) | |
| 7 | g.117540285G= | CA1737332436 | CFTR | c.1055G= (p.Arg352=) c.*952G= (n.*952G=) c.*879G= (n.*879G=) c.812G= (p.Arg271=) c.965G= (p.Arg322=) c.1145G= (p.Arg382=) | |
| 7 | g.117540285G>T | CA368978913 | CFTR | c.1055G>T (p.Arg352Leu) c.*952G>T (n.*952G>T) c.*879G>T (n.*879G>T) c.812G>T (p.Arg271Leu) c.965G>T (p.Arg322Leu) c.1145G>T (p.Arg382Leu) | |
| 7 | g.117540286G>A | CA457448779 | CFTR | c.1056G>A (p.Arg352=) c.*953G>A (n.*953G>A) c.*880G>A (n.*880G>A) c.813G>A (p.Arg271=) c.966G>A (p.Arg322=) c.1146G>A (p.Arg382=) | |
| 7 | g.117540286G>C | CA457448780 | CFTR | c.1056G>C (p.Arg352=) c.*953G>C (n.*953G>C) c.*880G>C (n.*880G>C) c.813G>C (p.Arg271=) c.966G>C (p.Arg322=) c.1146G>C (p.Arg382=) | |
| 7 | g.117540286G>T | CA457448781 | CFTR | c.1056G>T (p.Arg352=) c.*953G>T (n.*953G>T) c.*880G>T (n.*880G>T) c.813G>T (p.Arg271=) c.966G>T (p.Arg322=) c.1146G>T (p.Arg382=) | |
| 7 | g.117540287C>A | CA368978915 | CFTR | c.1057C>A (p.Gln353Lys) c.*954C>A (n.*954C>A) c.*881C>A (n.*881C>A) c.814C>A (p.Gln272Lys) c.967C>A (p.Gln323Lys) c.1147C>A (p.Gln383Lys) | |
| 7 | g.117540287C= | CA1737332452 | CFTR | c.1057C= (p.Gln353=) c.*954C= (n.*954C=) c.*881C= (n.*881C=) c.814C= (p.Gln272=) c.967C= (p.Gln323=) c.1147C= (p.Gln383=) | |
| 7 | g.117540287C>G | CA368978917 | CFTR | c.1057C>G (p.Gln353Glu) c.*954C>G (n.*954C>G) c.*881C>G (n.*881C>G) c.814C>G (p.Gln272Glu) c.967C>G (p.Gln323Glu) c.1147C>G (p.Gln383Glu) | |
| 7 | g.117540287C>T | CA326379 | CFTR | c.1057C>T (p.Gln353Ter) c.*954C>T (n.*954C>T) c.*881C>T (n.*881C>T) c.814C>T (p.Gln272Ter) c.967C>T (p.Gln323Ter) c.1147C>T (p.Gln383Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540288A>C | CA368978918 | CFTR | c.1058A>C (p.Gln353Pro) c.*955A>C (n.*955A>C) c.*882A>C (n.*882A>C) c.815A>C (p.Gln272Pro) c.968A>C (p.Gln323Pro) c.1148A>C (p.Gln383Pro) | |
| 7 | g.117540288A>G | CA368978919 | CFTR | c.1058A>G (p.Gln353Arg) c.*955A>G (n.*955A>G) c.*882A>G (n.*882A>G) c.815A>G (p.Gln272Arg) c.968A>G (p.Gln323Arg) c.1148A>G (p.Gln383Arg) | ClinVar |
| 7 | g.117540288A>T | CA368978920 | CFTR | c.1058A>T (p.Gln353Leu) c.*955A>T (n.*955A>T) c.*882A>T (n.*882A>T) c.815A>T (p.Gln272Leu) c.968A>T (p.Gln323Leu) c.1148A>T (p.Gln383Leu) | |
| 7 | g.117540289A= | CA1737332467 | CFTR | c.1059A= (p.Gln353=) c.*956A= (n.*956A=) c.*883A= (n.*883A=) c.816A= (p.Gln272=) c.969A= (p.Gln323=) c.1149A= (p.Gln383=) | |
| 7 | g.117540289A>C | CA326381 | CFTR | c.1059A>C (p.Gln353His) c.*956A>C (n.*956A>C) c.*883A>C (n.*883A>C) c.816A>C (p.Gln272His) c.969A>C (p.Gln323His) c.1149A>C (p.Gln383His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117540289A>G | CA4450883 | CFTR | c.1059A>G (p.Gln353=) c.*956A>G (n.*956A>G) c.*883A>G (n.*883A>G) c.816A>G (p.Gln272=) c.969A>G (p.Gln323=) c.1149A>G (p.Gln383=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117540289A>T | CA368978923 | CFTR | c.1059A>T (p.Gln353His) c.*956A>T (n.*956A>T) c.*883A>T (n.*883A>T) c.816A>T (p.Gln272His) c.969A>T (p.Gln323His) c.1149A>T (p.Gln383His) | |
| 7 | g.117540290T>A | CA368978925 | CFTR | c.1060T>A (p.Phe354Ile) c.*957T>A (n.*957T>A) c.*884T>A (n.*884T>A) c.817T>A (p.Phe273Ile) c.970T>A (p.Phe324Ile) c.1150T>A (p.Phe384Ile) | |
| 7 | g.117540290T>C | CA368978927 | CFTR | c.1060T>C (p.Phe354Leu) c.*957T>C (n.*957T>C) c.*884T>C (n.*884T>C) c.817T>C (p.Phe273Leu) c.970T>C (p.Phe324Leu) c.1150T>C (p.Phe384Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540290T>G | CA368978928 | CFTR | c.1060T>G (p.Phe354Val) c.*957T>G (n.*957T>G) c.*884T>G (n.*884T>G) c.817T>G (p.Phe273Val) c.970T>G (p.Phe324Val) c.1150T>G (p.Phe384Val) | |
| 7 | g.117540290T= | CA1737332478 | CFTR | c.1060T= (p.Phe354=) c.*957T= (n.*957T=) c.*884T= (n.*884T=) c.817T= (p.Phe273=) c.970T= (p.Phe324=) c.1150T= (p.Phe384=) | |
| 7 | g.117540291T>A | CA368978929 | CFTR | c.1061T>A (p.Phe354Tyr) c.*958T>A (n.*958T>A) c.*885T>A (n.*885T>A) c.818T>A (p.Phe273Tyr) c.971T>A (p.Phe324Tyr) c.1151T>A (p.Phe384Tyr) | |
| 7 | g.117540291T>C | CA368978930 | CFTR | c.1061T>C (p.Phe354Ser) c.*958T>C (n.*958T>C) c.*885T>C (n.*885T>C) c.818T>C (p.Phe273Ser) c.971T>C (p.Phe324Ser) c.1151T>C (p.Phe384Ser) | |
| 7 | g.117540291T>G | CA368978931 | CFTR | c.1061T>G (p.Phe354Cys) c.*958T>G (n.*958T>G) c.*885T>G (n.*885T>G) c.818T>G (p.Phe273Cys) c.971T>G (p.Phe324Cys) c.1151T>G (p.Phe384Cys) | |
| 7 | g.117540292T>A | CA368978933 | CFTR | c.1062T>A (p.Phe354Leu) c.*959T>A (n.*959T>A) c.*886T>A (n.*886T>A) c.819T>A (p.Phe273Leu) c.972T>A (p.Phe324Leu) c.1152T>A (p.Phe384Leu) | |
| 7 | g.117540292T>C | CA164953962 | CFTR | c.1062T>C (p.Phe354=) c.*959T>C (n.*959T>C) c.*886T>C (n.*886T>C) c.819T>C (p.Phe273=) c.972T>C (p.Phe324=) c.1152T>C (p.Phe384=) | dbSNP |
| 7 | g.117540292T>G | CA368978932 | CFTR | c.1062T>G (p.Phe354Leu) c.*959T>G (n.*959T>G) c.*886T>G (n.*886T>G) c.819T>G (p.Phe273Leu) c.972T>G (p.Phe324Leu) c.1152T>G (p.Phe384Leu) | |
| 7 | g.117540292T= | CA1737332488 | CFTR | c.1062T= (p.Phe354=) c.*959T= (n.*959T=) c.*886T= (n.*886T=) c.819T= (p.Phe273=) c.972T= (p.Phe324=) c.1152T= (p.Phe384=) | |
| 7 | g.117540293C>A | CA368978935 | CFTR | c.1063C>A (p.Pro355Thr) c.*960C>A (n.*960C>A) c.*887C>A (n.*887C>A) c.820C>A (p.Pro274Thr) c.973C>A (p.Pro325Thr) c.1153C>A (p.Pro385Thr) | |
| 7 | g.117540293C= | CA1737332495 | CFTR | c.1063C= (p.Pro355=) c.*960C= (n.*960C=) c.*887C= (n.*887C=) c.820C= (p.Pro274=) c.973C= (p.Pro325=) c.1153C= (p.Pro385=) | |
| 7 | g.117540293C>G | CA368978937 | CFTR | c.1063C>G (p.Pro355Ala) c.*960C>G (n.*960C>G) c.*887C>G (n.*887C>G) c.820C>G (p.Pro274Ala) c.973C>G (p.Pro325Ala) c.1153C>G (p.Pro385Ala) | |
| 7 | g.117540293C>T | CA164953972 | CFTR | c.1063C>T (p.Pro355Ser) c.*960C>T (n.*960C>T) c.*887C>T (n.*887C>T) c.820C>T (p.Pro274Ser) c.973C>T (p.Pro325Ser) c.1153C>T (p.Pro385Ser) | dbSNP COSMIC |
| 7 | g.117540294C>A | CA368978939 | CFTR | c.1064C>A (p.Pro355His) c.*961C>A (n.*961C>A) c.*888C>A (n.*888C>A) c.821C>A (p.Pro274His) c.974C>A (p.Pro325His) c.1154C>A (p.Pro385His) | |
| 7 | g.117540294C= | CA1737332500 | CFTR | c.1064C= (p.Pro355=) c.*961C= (n.*961C=) c.*888C= (n.*888C=) c.821C= (p.Pro274=) c.974C= (p.Pro325=) c.1154C= (p.Pro385=) | |
| 7 | g.117540294C>G | CA368978942 | CFTR | c.1064C>G (p.Pro355Arg) c.*961C>G (n.*961C>G) c.*888C>G (n.*888C>G) c.821C>G (p.Pro274Arg) c.974C>G (p.Pro325Arg) c.1154C>G (p.Pro385Arg) | |
| 7 | g.117540294C>T | CA4450884 | CFTR | c.1064C>T (p.Pro355Leu) c.*961C>T (n.*961C>T) c.*888C>T (n.*888C>T) c.821C>T (p.Pro274Leu) c.974C>T (p.Pro325Leu) c.1154C>T (p.Pro385Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117540295C>A | CA457448782 | CFTR | c.1065C>A (p.Pro355=) c.*962C>A (n.*962C>A) c.*889C>A (n.*889C>A) c.822C>A (p.Pro274=) c.975C>A (p.Pro325=) c.1155C>A (p.Pro385=) | |
| 7 | g.117540295C>G | CA457448783 | CFTR | c.1065C>G (p.Pro355=) c.*962C>G (n.*962C>G) c.*889C>G (n.*889C>G) c.822C>G (p.Pro274=) c.975C>G (p.Pro325=) c.1155C>G (p.Pro385=) | |
| 7 | g.117540295C>T | CA457448784 | CFTR | c.1065C>T (p.Pro355=) c.*962C>T (n.*962C>T) c.*889C>T (n.*889C>T) c.822C>T (p.Pro274=) c.975C>T (p.Pro325=) c.1155C>T (p.Pro385=) | |
| 7 | g.117540295_117540302delinsCTGGGCTG | CA1737332504 | CFTR | c.1065_1072delinsCTGGGCTG (p.Pro355=) c.*962_*969delinsCTGGGCTG (n.*962_*969delinsCTGGGCTG) c.*889_*896delinsCTGGGCTG (n.*889_*896delinsCTGGGCTG) c.822_829delinsCTGGGCTG (p.Pro274=) c.975_982delinsCTGGGCTG (p.Pro325=) c.1155_1162delinsCTGGGCTG (p.Pro385=) | |
| 7 | g.117540296T>A | CA368978944 | CFTR | c.1066T>A (p.Trp356Arg) c.*963T>A (n.*963T>A) c.*890T>A (n.*890T>A) c.823T>A (p.Trp275Arg) c.976T>A (p.Trp326Arg) c.1156T>A (p.Trp386Arg) | dbSNP gnomAD v4 |
| 7 | g.117540296T>C | CA368978946 | CFTR | c.1066T>C (p.Trp356Arg) c.*963T>C (n.*963T>C) c.*890T>C (n.*890T>C) c.823T>C (p.Trp275Arg) c.976T>C (p.Trp326Arg) c.1156T>C (p.Trp386Arg) | gnomAD v4 |
| 7 | g.117540296T>G | CA368978948 | CFTR | c.1066T>G (p.Trp356Gly) c.*963T>G (n.*963T>G) c.*890T>G (n.*890T>G) c.823T>G (p.Trp275Gly) c.976T>G (p.Trp326Gly) c.1156T>G (p.Trp386Gly) | |
| 7 | g.117540296T= | CA1737332520 | CFTR | c.1066T= (p.Trp356=) c.*963T= (n.*963T=) c.*890T= (n.*890T=) c.823T= (p.Trp275=) c.976T= (p.Trp326=) c.1156T= (p.Trp386=) | |
| 7 | g.117540296_117540297delinsTG | CA1737332519 | CFTR | c.1066_1067delinsTG (p.Trp356=) c.*963_*964delinsTG (n.*963_*964delinsTG) c.*890_*891delinsTG (n.*890_*891delinsTG) c.823_824delinsTG (p.Trp275=) c.976_977delinsTG (p.Trp326=) c.1156_1157delinsTG (p.Trp386=) | |
| 7 | g.117540296_117540301del | CA2573141569 | CFTR | c.1066_1071del (p.Trp356_Ala357del) c.*963_*968del (n.*963_*968del) c.*890_*895del (n.*890_*895del) c.823_828del (p.Trp275_Ala276del) c.976_981del (p.Trp326_Ala327del) c.1156_1161del (p.Trp386_Ala387del) | ClinVar dbSNP |
| 7 | g.117540296_117540301delinsA | CA2695208312 | CFTR | c.1066_1071delinsA (p.Trp356SerfsTer6) c.*963_*968delinsA (n.*963_*968delinsA) c.*890_*895delinsA (n.*890_*895delinsA) c.823_828delinsA (p.Trp275SerfsTer6) c.976_981delinsA (p.Trp326SerfsTer6) c.1156_1161delinsA (p.Trp386SerfsTer6) | |
| 7 | g.117540296_117540302delinsA | CA247542 | CFTR | c.1066_1072delinsA (p.Trp356_Val358delinsIle) c.*963_*969delinsA (n.*963_*969delinsA) c.*890_*896delinsA (n.*890_*896delinsA) c.823_829delinsA (p.Trp275_Val277delinsIle) c.976_982delinsA (p.Trp326_Val328delinsIle) c.1156_1162delinsA (p.Trp386_Val388delinsIle) | ClinVar dbSNP |
| 7 | g.117540298_117540317del | CA2695208311 | CFTR | c.1068_1087del (p.Trp356Ter) c.*965_*984del (n.*965_*984del) c.*892_*911del (n.*892_*911del) c.825_844del (p.Trp275Ter) c.978_997del (p.Trp326Ter) c.1158_1177del (p.Trp386Ter) | |
| 7 | g.117540297G>A | CA368978949 | CFTR | c.1067G>A (p.Trp356Ter) c.*964G>A (n.*964G>A) c.*891G>A (n.*891G>A) c.824G>A (p.Trp275Ter) c.977G>A (p.Trp326Ter) c.1157G>A (p.Trp386Ter) | ClinVar |
| 7 | g.117540297G>C | CA4450885 | CFTR | c.1067G>C (p.Trp356Ser) c.*964G>C (n.*964G>C) c.*891G>C (n.*891G>C) c.824G>C (p.Trp275Ser) c.977G>C (p.Trp326Ser) c.1157G>C (p.Trp386Ser) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 7 | g.117540297G= | CA1737332536 | CFTR | c.1067G= (p.Trp356=) c.*964G= (n.*964G=) c.*891G= (n.*891G=) c.824G= (p.Trp275=) c.977G= (p.Trp326=) c.1157G= (p.Trp386=) | |
| 7 | g.117540297G>T | CA368978950 | CFTR | c.1067G>T (p.Trp356Leu) c.*964G>T (n.*964G>T) c.*891G>T (n.*891G>T) c.824G>T (p.Trp275Leu) c.977G>T (p.Trp326Leu) c.1157G>T (p.Trp386Leu) | |
| 7 | g.117540299del | CA326386 | CFTR | c.1069del (p.Ala357LeufsTer12) c.*966del (n.*966del) c.*893del (n.*893del) c.826del (p.Ala276LeufsTer12) c.979del (p.Ala327LeufsTer12) c.1159del (p.Ala387LeufsTer12) | ClinVar dbSNP |
| 7 | g.117540298G>A | CA326384 | CFTR | c.1068G>A (p.Trp356Ter) c.*965G>A (n.*965G>A) c.*892G>A (n.*892G>A) c.825G>A (p.Trp275Ter) c.978G>A (p.Trp326Ter) c.1158G>A (p.Trp386Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540298G>C | CA368978953 | CFTR | c.1068G>C (p.Trp356Cys) c.*965G>C (n.*965G>C) c.*892G>C (n.*892G>C) c.825G>C (p.Trp275Cys) c.978G>C (p.Trp326Cys) c.1158G>C (p.Trp386Cys) | |
| 7 | g.117540298G= | CA1737332540 | CFTR | c.1068G= (p.Trp356=) c.*965G= (n.*965G=) c.*892G= (n.*892G=) c.825G= (p.Trp275=) c.978G= (p.Trp326=) c.1158G= (p.Trp386=) | |
| 7 | g.117540298G>T | CA368978955 | CFTR | c.1068G>T (p.Trp356Cys) c.*965G>T (n.*965G>T) c.*892G>T (n.*892G>T) c.825G>T (p.Trp275Cys) c.978G>T (p.Trp326Cys) c.1158G>T (p.Trp386Cys) | |
| 7 | g.117540299G>A | CA368978956 | CFTR | c.1069G>A (p.Ala357Thr) c.*966G>A (n.*966G>A) c.*893G>A (n.*893G>A) c.826G>A (p.Ala276Thr) c.979G>A (p.Ala327Thr) c.1159G>A (p.Ala387Thr) | |
| 7 | g.117540299G>C | CA368978957 | CFTR | c.1069G>C (p.Ala357Pro) c.*966G>C (n.*966G>C) c.*893G>C (n.*893G>C) c.826G>C (p.Ala276Pro) c.979G>C (p.Ala327Pro) c.1159G>C (p.Ala387Pro) | |
| 7 | g.117540299G>T | CA368978958 | CFTR | c.1069G>T (p.Ala357Ser) c.*966G>T (n.*966G>T) c.*893G>T (n.*893G>T) c.826G>T (p.Ala276Ser) c.979G>T (p.Ala327Ser) c.1159G>T (p.Ala387Ser) | |
| 7 | g.117540300C>A | CA368978961 | CFTR | c.1070C>A (p.Ala357Asp) c.*967C>A (n.*967C>A) c.*894C>A (n.*894C>A) c.827C>A (p.Ala276Asp) c.980C>A (p.Ala327Asp) c.1160C>A (p.Ala387Asp) | |
| 7 | g.117540300C>G | CA368978962 | CFTR | c.1070C>G (p.Ala357Gly) c.*967C>G (n.*967C>G) c.*894C>G (n.*894C>G) c.827C>G (p.Ala276Gly) c.980C>G (p.Ala327Gly) c.1160C>G (p.Ala387Gly) | |
| 7 | g.117540300C>T | CA368978964 | CFTR | c.1070C>T (p.Ala357Val) c.*967C>T (n.*967C>T) c.*894C>T (n.*894C>T) c.827C>T (p.Ala276Val) c.980C>T (p.Ala327Val) c.1160C>T (p.Ala387Val) | ClinVar |
| 7 | g.117540301T>A | CA457448785 | CFTR | c.1071T>A (p.Ala357=) c.*968T>A (n.*968T>A) c.*895T>A (n.*895T>A) c.828T>A (p.Ala276=) c.981T>A (p.Ala327=) c.1161T>A (p.Ala387=) | |
| 7 | g.117540301T>C | CA457448786 | CFTR | c.1071T>C (p.Ala357=) c.*968T>C (n.*968T>C) c.*895T>C (n.*895T>C) c.828T>C (p.Ala276=) c.981T>C (p.Ala327=) c.1161T>C (p.Ala387=) | ClinVar |
| 7 | g.117540301T>G | CA457448787 | CFTR | c.1071T>G (p.Ala357=) c.*968T>G (n.*968T>G) c.*895T>G (n.*895T>G) c.828T>G (p.Ala276=) c.981T>G (p.Ala327=) c.1161T>G (p.Ala387=) | |
| 7 | g.117540302G>A | CA368978967 | CFTR | c.1072G>A (p.Val358Ile) c.*969G>A (n.*969G>A) c.*896G>A (n.*896G>A) c.829G>A (p.Val277Ile) c.982G>A (p.Val328Ile) c.1162G>A (p.Val388Ile) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540302G>C | CA368978966 | CFTR | c.1072G>C (p.Val358Leu) c.*969G>C (n.*969G>C) c.*896G>C (n.*896G>C) c.829G>C (p.Val277Leu) c.982G>C (p.Val328Leu) c.1162G>C (p.Val388Leu) | |
| 7 | g.117540302G= | CA1737332547 | CFTR | c.1072G= (p.Val358=) c.*969G= (n.*969G=) c.*896G= (n.*896G=) c.829G= (p.Val277=) c.982G= (p.Val328=) c.1162G= (p.Val388=) | |
| 7 | g.117540302G>T | CA368978965 | CFTR | c.1072G>T (p.Val358Leu) c.*969G>T (n.*969G>T) c.*896G>T (n.*896G>T) c.829G>T (p.Val277Leu) c.982G>T (p.Val328Leu) c.1162G>T (p.Val388Leu) | |
| 7 | g.117540303T>A | CA368978969 | CFTR | c.1073T>A (p.Val358Glu) c.*970T>A (n.*970T>A) c.*897T>A (n.*897T>A) c.830T>A (p.Val277Glu) c.983T>A (p.Val328Glu) c.1163T>A (p.Val388Glu) | |
| 7 | g.117540303T>C | CA164954011 | CFTR | c.1073T>C (p.Val358Ala) c.*970T>C (n.*970T>C) c.*897T>C (n.*897T>C) c.830T>C (p.Val277Ala) c.983T>C (p.Val328Ala) c.1163T>C (p.Val388Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540303T>G | CA368978970 | CFTR | c.1073T>G (p.Val358Gly) c.*970T>G (n.*970T>G) c.*897T>G (n.*897T>G) c.830T>G (p.Val277Gly) c.983T>G (p.Val328Gly) c.1163T>G (p.Val388Gly) | |
| 7 | g.117540303T= | CA1737332550 | CFTR | c.1073T= (p.Val358=) c.*970T= (n.*970T=) c.*897T= (n.*897T=) c.830T= (p.Val277=) c.983T= (p.Val328=) c.1163T= (p.Val388=) | |
| 7 | g.117540304A= | CA1737332551 | CFTR | c.1074A= (p.Val358=) c.*971A= (n.*971A=) c.*898A= (n.*898A=) c.831A= (p.Val277=) c.984A= (p.Val328=) c.1164A= (p.Val388=) | |
| 7 | g.117540304A>C | CA457448788 | CFTR | c.1074A>C (p.Val358=) c.*971A>C (n.*971A>C) c.*898A>C (n.*898A>C) c.831A>C (p.Val277=) c.984A>C (p.Val328=) c.1164A>C (p.Val388=) | gnomAD v4 |
| 7 | g.117540304A>G | CA164954027 | CFTR | c.1074A>G (p.Val358=) c.*971A>G (n.*971A>G) c.*898A>G (n.*898A>G) c.831A>G (p.Val277=) c.984A>G (p.Val328=) c.1164A>G (p.Val388=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540304A>T | CA457448789 | CFTR | c.1074A>T (p.Val358=) c.*971A>T (n.*971A>T) c.*898A>T (n.*898A>T) c.831A>T (p.Val277=) c.984A>T (p.Val328=) c.1164A>T (p.Val388=) | COSMIC |
| 7 | g.117540305C>A | CA353709 | CFTR | c.1075C>A (p.Gln359Lys) c.*972C>A (n.*972C>A) c.*899C>A (n.*899C>A) c.832C>A (p.Gln278Lys) c.985C>A (p.Gln329Lys) c.1165C>A (p.Gln389Lys) | ClinVar dbSNP |
| 7 | g.[117540305C>A;117540309C>A] | CA353712 | CFTR | c.[1075C>A;1079C>A] (p.[Gln359Lys;Thr360Lys]) c.[*972C>A;*976C>A] (n.[*972C>A;*976C>A]) c.[*899C>A;*903C>A] (n.[*899C>A;*903C>A]) c.[832C>A;836C>A] (p.[Gln278Lys;Thr279Lys]) c.[985C>A;989C>A] (p.[Gln329Lys;Thr330Lys]) c.[1165C>A;1169C>A] (p.[Gln389Lys;Thr390Lys]) | ClinVar |
| 7 | g.117540305C= | CA1737332560 | CFTR | c.1075C= (p.Gln359=) c.*972C= (n.*972C=) c.*899C= (n.*899C=) c.832C= (p.Gln278=) c.985C= (p.Gln329=) c.1165C= (p.Gln389=) | |
| 7 | g.117540305C>G | CA368978973 | CFTR | c.1075C>G (p.Gln359Glu) c.*972C>G (n.*972C>G) c.*899C>G (n.*899C>G) c.832C>G (p.Gln278Glu) c.985C>G (p.Gln329Glu) c.1165C>G (p.Gln389Glu) | gnomAD v4 |
| 7 | g.117540305C>T | CA368978974 | CFTR | c.1075C>T (p.Gln359Ter) c.*972C>T (n.*972C>T) c.*899C>T (n.*899C>T) c.832C>T (p.Gln278Ter) c.985C>T (p.Gln329Ter) c.1165C>T (p.Gln389Ter) | gnomAD v4 |
| 7 | g.117540305_117540309delinsAAAAA | CA326387 | CFTR | c.1075_1079delinsAAAAA (p.Gln359_Thr360delinsLysLys) c.*972_*976delinsAAAAA (n.*972_*976delinsAAAAA) c.*899_*903delinsAAAAA (n.*899_*903delinsAAAAA) c.832_836delinsAAAAA (p.Gln278_Thr279delinsLysLys) c.985_989delinsAAAAA (p.Gln329_Thr330delinsLysLys) c.1165_1169delinsAAAAA (p.Gln389_Thr390delinsLysLys) | ClinVar dbSNP |
| 7 | g.117540305_117540309delinsCAAAC | CA1737332562 | CFTR | c.1075_1079delinsCAAAC (p.Gln359=) c.*972_*976delinsCAAAC (n.*972_*976delinsCAAAC) c.*899_*903delinsCAAAC (n.*899_*903delinsCAAAC) c.832_836delinsCAAAC (p.Gln278=) c.985_989delinsCAAAC (p.Gln329=) c.1165_1169delinsCAAAC (p.Gln389=) | |
| 7 | g.117540306A= | CA1737332565 | CFTR | c.1076A= (p.Gln359=) c.*973A= (n.*973A=) c.*900A= (n.*900A=) c.833A= (p.Gln278=) c.986A= (p.Gln329=) c.1166A= (p.Gln389=) | |
| 7 | g.117540306A>C | CA368978976 | CFTR | c.1076A>C (p.Gln359Pro) c.*973A>C (n.*973A>C) c.*900A>C (n.*900A>C) c.833A>C (p.Gln278Pro) c.986A>C (p.Gln329Pro) c.1166A>C (p.Gln389Pro) | gnomAD v4 |
| 7 | g.117540306A>G | CA326389 | CFTR | c.1076A>G (p.Gln359Arg) c.*973A>G (n.*973A>G) c.*900A>G (n.*900A>G) c.833A>G (p.Gln278Arg) c.986A>G (p.Gln329Arg) c.1166A>G (p.Gln389Arg) | ClinVar dbSNP |
| 7 | g.117540306A>T | CA368978979 | CFTR | c.1076A>T (p.Gln359Leu) c.*973A>T (n.*973A>T) c.*900A>T (n.*900A>T) c.833A>T (p.Gln278Leu) c.986A>T (p.Gln329Leu) c.1166A>T (p.Gln389Leu) | |
| 7 | g.117540308del | CA2697557568 | CFTR | c.1078del (p.Thr360HisfsTer9) c.*975del (n.*975del) c.*902del (n.*902del) c.835del (p.Thr279HisfsTer9) c.988del (p.Thr330HisfsTer9) c.1168del (p.Thr390HisfsTer9) | ClinVar |
| 7 | g.117540307A= | CA1737332570 | CFTR | c.1077A= (p.Gln359=) c.*974A= (n.*974A=) c.*901A= (n.*901A=) c.834A= (p.Gln278=) c.987A= (p.Gln329=) c.1167A= (p.Gln389=) | |
| 7 | g.117540307A>C | CA368978980 | CFTR | c.1077A>C (p.Gln359His) c.*974A>C (n.*974A>C) c.*901A>C (n.*901A>C) c.834A>C (p.Gln278His) c.987A>C (p.Gln329His) c.1167A>C (p.Gln389His) | |
| 7 | g.117540307A>G | CA164954091 | CFTR | c.1077A>G (p.Gln359=) c.*974A>G (n.*974A>G) c.*901A>G (n.*901A>G) c.834A>G (p.Gln278=) c.987A>G (p.Gln329=) c.1167A>G (p.Gln389=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540307A>T | CA368978982 | CFTR | c.1077A>T (p.Gln359His) c.*974A>T (n.*974A>T) c.*901A>T (n.*901A>T) c.834A>T (p.Gln278His) c.987A>T (p.Gln329His) c.1167A>T (p.Gln389His) | |
| 7 | g.117540308A>C | CA368978985 | CFTR | c.1078A>C (p.Thr360Pro) c.*975A>C (n.*975A>C) c.*902A>C (n.*902A>C) c.835A>C (p.Thr279Pro) c.988A>C (p.Thr330Pro) c.1168A>C (p.Thr390Pro) | |
| 7 | g.117540308A>G | CA368978986 | CFTR | c.1078A>G (p.Thr360Ala) c.*975A>G (n.*975A>G) c.*902A>G (n.*902A>G) c.835A>G (p.Thr279Ala) c.988A>G (p.Thr330Ala) c.1168A>G (p.Thr390Ala) | |
| 7 | g.117540308A>T | CA368978984 | CFTR | c.1078A>T (p.Thr360Ser) c.*975A>T (n.*975A>T) c.*902A>T (n.*902A>T) c.835A>T (p.Thr279Ser) c.988A>T (p.Thr330Ser) c.1168A>T (p.Thr390Ser) | |
| 7 | g.117540309C>A | CA353710 | CFTR | c.1079C>A (p.Thr360Lys) c.*976C>A (n.*976C>A) c.*903C>A (n.*903C>A) c.836C>A (p.Thr279Lys) c.989C>A (p.Thr330Lys) c.1169C>A (p.Thr390Lys) | ClinVar dbSNP |
| 7 | g.117540309C= | CA1737332580 | CFTR | c.1079C= (p.Thr360=) c.*976C= (n.*976C=) c.*903C= (n.*903C=) c.836C= (p.Thr279=) c.989C= (p.Thr330=) c.1169C= (p.Thr390=) | |
| 7 | g.117540309C>G | CA326391 | CFTR | c.1079C>G (p.Thr360Arg) c.*976C>G (n.*976C>G) c.*903C>G (n.*903C>G) c.836C>G (p.Thr279Arg) c.989C>G (p.Thr330Arg) c.1169C>G (p.Thr390Arg) | dbSNP COSMIC |
| 7 | g.117540309C>T | CA4450886 | CFTR | c.1079C>T (p.Thr360Ile) c.*976C>T (n.*976C>T) c.*903C>T (n.*903C>T) c.836C>T (p.Thr279Ile) c.989C>T (p.Thr330Ile) c.1169C>T (p.Thr390Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540310del | CA2580076464 | CFTR | c.1080del (p.Trp361GlyfsTer8) c.*977del (n.*977del) c.*904del (n.*904del) c.837del (p.Trp280GlyfsTer8) c.990del (p.Trp331GlyfsTer8) c.1170del (p.Trp391GlyfsTer8) | ClinVar |
| 7 | g.117540310A= | CA1737332591 | CFTR | c.1080A= (p.Thr360=) c.*977A= (n.*977A=) c.*904A= (n.*904A=) c.837A= (p.Thr279=) c.990A= (p.Thr330=) c.1170A= (p.Thr390=) | |
| 7 | g.117540310A>C | CA457448790 | CFTR | c.1080A>C (p.Thr360=) c.*977A>C (n.*977A>C) c.*904A>C (n.*904A>C) c.837A>C (p.Thr279=) c.990A>C (p.Thr330=) c.1170A>C (p.Thr390=) | |
| 7 | g.117540310A>G | CA164954122 | CFTR | c.1080A>G (p.Thr360=) c.*977A>G (n.*977A>G) c.*904A>G (n.*904A>G) c.837A>G (p.Thr279=) c.990A>G (p.Thr330=) c.1170A>G (p.Thr390=) | ClinVar dbSNP |
| 7 | g.117540310A>T | CA457448791 | CFTR | c.1080A>T (p.Thr360=) c.*977A>T (n.*977A>T) c.*904A>T (n.*904A>T) c.837A>T (p.Thr279=) c.990A>T (p.Thr330=) c.1170A>T (p.Thr390=) | |
| 7 | g.117540310_117540311delinsAT | CA1737332594 | CFTR | c.1080_1081delinsAT (p.Thr360=) c.*977_*978delinsAT (n.*977_*978delinsAT) c.*904_*905delinsAT (n.*904_*905delinsAT) c.837_838delinsAT (p.Thr279=) c.990_991delinsAT (p.Thr330=) c.1170_1171delinsAT (p.Thr390=) | |
| 7 | g.117540311del | CA325533 | CFTR | c.1081del (p.Trp361GlyfsTer8) c.*978del (n.*978del) c.*905del (n.*905del) c.838del (p.Trp280GlyfsTer8) c.991del (p.Trp331GlyfsTer8) c.1171del (p.Trp391GlyfsTer8) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540311T>A | CA326393 | CFTR | c.1081T>A (p.Trp361Arg) c.*978T>A (n.*978T>A) c.*905T>A (n.*905T>A) c.838T>A (p.Trp280Arg) c.991T>A (p.Trp331Arg) c.1171T>A (p.Trp391Arg) | ClinVar dbSNP |
| 7 | g.117540311T>C | CA326395 | CFTR | c.1081T>C (p.Trp361Arg) c.*978T>C (n.*978T>C) c.*905T>C (n.*905T>C) c.838T>C (p.Trp280Arg) c.991T>C (p.Trp331Arg) c.1171T>C (p.Trp391Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540311T>G | CA368978992 | CFTR | c.1081T>G (p.Trp361Gly) c.*978T>G (n.*978T>G) c.*905T>G (n.*905T>G) c.838T>G (p.Trp280Gly) c.991T>G (p.Trp331Gly) c.1171T>G (p.Trp391Gly) | |
| 7 | g.117540311T= | CA1737332606 | CFTR | c.1081T= (p.Trp361=) c.*978T= (n.*978T=) c.*905T= (n.*905T=) c.838T= (p.Trp280=) c.991T= (p.Trp331=) c.1171T= (p.Trp391=) | |
| 7 | g.117540311_117540312delinsTG | CA1737332608 | CFTR | c.1081_1082delinsTG (p.Trp361=) c.*978_*979delinsTG (n.*978_*979delinsTG) c.*905_*906delinsTG (n.*905_*906delinsTG) c.838_839delinsTG (p.Trp280=) c.991_992delinsTG (p.Trp331=) c.1171_1172delinsTG (p.Trp391=) | |
| 7 | g.117540312G>A | CA368978997 | CFTR | c.1082G>A (p.Trp361Ter) c.*979G>A (n.*979G>A) c.*906G>A (n.*906G>A) c.839G>A (p.Trp280Ter) c.992G>A (p.Trp331Ter) c.1172G>A (p.Trp391Ter) | gnomAD v4 |
| 7 | g.117540312G>C | CA368978999 | CFTR | c.1082G>C (p.Trp361Ser) c.*979G>C (n.*979G>C) c.*906G>C (n.*906G>C) c.839G>C (p.Trp280Ser) c.992G>C (p.Trp331Ser) c.1172G>C (p.Trp391Ser) | |
| 7 | g.117540312G>T | CA368978995 | CFTR | c.1082G>T (p.Trp361Leu) c.*979G>T (n.*979G>T) c.*906G>T (n.*906G>T) c.839G>T (p.Trp280Leu) c.992G>T (p.Trp331Leu) c.1172G>T (p.Trp391Leu) | |
| 7 | g.117540313del | CA325600 | CFTR | c.1083del (p.Trp361CysfsTer8) c.*980del (n.*980del) c.*907del (n.*907del) c.840del (p.Trp280CysfsTer8) c.993del (p.Trp331CysfsTer8) c.1173del (p.Trp391CysfsTer8) | ClinVar dbSNP |
| 7 | g.117540313G>A | CA368979000 | CFTR | c.1083G>A (p.Trp361Ter) c.*980G>A (n.*980G>A) c.*907G>A (n.*907G>A) c.840G>A (p.Trp280Ter) c.993G>A (p.Trp331Ter) c.1173G>A (p.Trp391Ter) | gnomAD v4 |
| 7 | g.117540313G>C | CA368979001 | CFTR | c.1083G>C (p.Trp361Cys) c.*980G>C (n.*980G>C) c.*907G>C (n.*907G>C) c.840G>C (p.Trp280Cys) c.993G>C (p.Trp331Cys) c.1173G>C (p.Trp391Cys) | dbSNP |
| 7 | g.117540313G= | CA1737332631 | CFTR | c.1083G= (p.Trp361=) c.*980G= (n.*980G=) c.*907G= (n.*907G=) c.840G= (p.Trp280=) c.993G= (p.Trp331=) c.1173G= (p.Trp391=) | |
| 7 | g.117540313G>T | CA368979003 | CFTR | c.1083G>T (p.Trp361Cys) c.*980G>T (n.*980G>T) c.*907G>T (n.*907G>T) c.840G>T (p.Trp280Cys) c.993G>T (p.Trp331Cys) c.1173G>T (p.Trp391Cys) | |
| 7 | g.117540314T>A | CA368979012 | CFTR | c.1084T>A (p.Tyr362Asn) c.*981T>A (n.*981T>A) c.*908T>A (n.*908T>A) c.841T>A (p.Tyr281Asn) c.994T>A (p.Tyr332Asn) c.1174T>A (p.Tyr392Asn) | |
| 7 | g.117540314T>C | CA368979014 | CFTR | c.1084T>C (p.Tyr362His) c.*981T>C (n.*981T>C) c.*908T>C (n.*908T>C) c.841T>C (p.Tyr281His) c.994T>C (p.Tyr332His) c.1174T>C (p.Tyr392His) | ClinVar gnomAD v4 |
| 7 | g.117540314T>G | CA368979015 | CFTR | c.1084T>G (p.Tyr362Asp) c.*981T>G (n.*981T>G) c.*908T>G (n.*908T>G) c.841T>G (p.Tyr281Asp) c.994T>G (p.Tyr332Asp) c.1174T>G (p.Tyr392Asp) | ClinVar |
| 7 | g.117540314_117540318dup | CA913189993 | CFTR | c.1084_1088dup (p.Ser364MetfsTer7) c.*981_*985dup (n.*981_*985dup) c.*908_*912dup (n.*908_*912dup) c.841_845dup (p.Ser283MetfsTer7) c.994_998dup (p.Ser334MetfsTer7) c.1174_1178dup (p.Ser394MetfsTer7) | ClinVar dbSNP |
| 7 | g.117540315A>C | CA368979020 | CFTR | c.1085A>C (p.Tyr362Ser) c.*982A>C (n.*982A>C) c.*909A>C (n.*909A>C) c.842A>C (p.Tyr281Ser) c.995A>C (p.Tyr332Ser) c.1175A>C (p.Tyr392Ser) | COSMIC |
| 7 | g.117540315A>G | CA368979016 | CFTR | c.1085A>G (p.Tyr362Cys) c.*982A>G (n.*982A>G) c.*909A>G (n.*909A>G) c.842A>G (p.Tyr281Cys) c.995A>G (p.Tyr332Cys) c.1175A>G (p.Tyr392Cys) | ClinVar |
| 7 | g.117540315A>T | CA368979018 | CFTR | c.1085A>T (p.Tyr362Phe) c.*982A>T (n.*982A>T) c.*909A>T (n.*909A>T) c.842A>T (p.Tyr281Phe) c.995A>T (p.Tyr332Phe) c.1175A>T (p.Tyr392Phe) | gnomAD v4 |
| 7 | g.117540316T>A | CA326396 | CFTR | c.1086T>A (p.Tyr362Ter) c.*983T>A (n.*983T>A) c.*910T>A (n.*910T>A) c.843T>A (p.Tyr281Ter) c.996T>A (p.Tyr332Ter) c.1176T>A (p.Tyr392Ter) | ClinVar dbSNP |
| 7 | g.117540316T>C | CA4450887 | CFTR | c.1086T>C (p.Tyr362=) c.*983T>C (n.*983T>C) c.*910T>C (n.*910T>C) c.843T>C (p.Tyr281=) c.996T>C (p.Tyr332=) c.1176T>C (p.Tyr392=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540316T>G | CA326398 | CFTR | c.1086T>G (p.Tyr362Ter) c.*983T>G (n.*983T>G) c.*910T>G (n.*910T>G) c.843T>G (p.Tyr281Ter) c.996T>G (p.Tyr332Ter) c.1176T>G (p.Tyr392Ter) | ClinVar dbSNP |
| 7 | g.117540316T= | CA1737332650 | CFTR | c.1086T= (p.Tyr362=) c.*983T= (n.*983T=) c.*910T= (n.*910T=) c.843T= (p.Tyr281=) c.996T= (p.Tyr332=) c.1176T= (p.Tyr392=) | |
| 7 | g.117540317G>A | CA368979024 | CFTR | c.1087G>A (p.Asp363Asn) c.*984G>A (n.*984G>A) c.*911G>A (n.*911G>A) c.844G>A (p.Asp282Asn) c.997G>A (p.Asp333Asn) c.1177G>A (p.Asp393Asn) | |
| 7 | g.117540317G>C | CA368979025 | CFTR | c.1087G>C (p.Asp363His) c.*984G>C (n.*984G>C) c.*911G>C (n.*911G>C) c.844G>C (p.Asp282His) c.997G>C (p.Asp333His) c.1177G>C (p.Asp393His) | |
| 7 | g.117540317G>T | CA368979027 | CFTR | c.1087G>T (p.Asp363Tyr) c.*984G>T (n.*984G>T) c.*911G>T (n.*911G>T) c.844G>T (p.Asp282Tyr) c.997G>T (p.Asp333Tyr) c.1177G>T (p.Asp393Tyr) | |
| 7 | g.117540318A>C | CA368979029 | CFTR | c.1088A>C (p.Asp363Ala) c.*985A>C (n.*985A>C) c.*912A>C (n.*912A>C) c.845A>C (p.Asp282Ala) c.998A>C (p.Asp333Ala) c.1178A>C (p.Asp393Ala) | |
| 7 | g.117540318A>G | CA368979032 | CFTR | c.1088A>G (p.Asp363Gly) c.*985A>G (n.*985A>G) c.*912A>G (n.*912A>G) c.845A>G (p.Asp282Gly) c.998A>G (p.Asp333Gly) c.1178A>G (p.Asp393Gly) | |
| 7 | g.117540318A>T | CA368979030 | CFTR | c.1088A>T (p.Asp363Val) c.*985A>T (n.*985A>T) c.*912A>T (n.*912A>T) c.845A>T (p.Asp282Val) c.998A>T (p.Asp333Val) c.1178A>T (p.Asp393Val) | |
| 7 | g.117540318_117540320delinsACT | CA1737332661 | CFTR | c.1088_1090delinsACT (p.Asp363=) c.*985_*987delinsACT (n.*985_*987delinsACT) c.*912_*914delinsACT (n.*912_*914delinsACT) c.845_847delinsACT (p.Asp282=) c.998_1000delinsACT (p.Asp333=) c.1178_1180delinsACT (p.Asp393=) | |
| 7 | g.117540319C>A | CA368979034 | CFTR | c.1089C>A (p.Asp363Glu) c.*986C>A (n.*986C>A) c.*913C>A (n.*913C>A) c.846C>A (p.Asp282Glu) c.999C>A (p.Asp333Glu) c.1179C>A (p.Asp393Glu) | gnomAD v4 |
| 7 | g.117540319C= | CA1737332673 | CFTR | c.1089C= (p.Asp363=) c.*986C= (n.*986C=) c.*913C= (n.*913C=) c.846C= (p.Asp282=) c.999C= (p.Asp333=) c.1179C= (p.Asp393=) | |
| 7 | g.117540319C>G | CA368979036 | CFTR | c.1089C>G (p.Asp363Glu) c.*986C>G (n.*986C>G) c.*913C>G (n.*913C>G) c.846C>G (p.Asp282Glu) c.999C>G (p.Asp333Glu) c.1179C>G (p.Asp393Glu) | |
| 7 | g.117540319C>T | CA4450888 | CFTR | c.1089C>T (p.Asp363=) c.*986C>T (n.*986C>T) c.*913C>T (n.*913C>T) c.846C>T (p.Asp282=) c.999C>T (p.Asp333=) c.1179C>T (p.Asp393=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117540323_117540324del | CA325550 | CFTR | c.1093_1094del (p.Leu365TrpfsTer16) c.*990_*991del (n.*990_*991del) c.*917_*918del (n.*917_*918del) c.850_851del (p.Leu284TrpfsTer16) c.1003_1004del (p.Leu335TrpfsTer16) c.1183_1184del (p.Leu395TrpfsTer16) | ClinVar dbSNP |
| 7 | g.117540320T>A | CA368979037 | CFTR | c.1090T>A (p.Ser364Thr) c.*987T>A (n.*987T>A) c.*914T>A (n.*914T>A) c.847T>A (p.Ser283Thr) c.1000T>A (p.Ser334Thr) c.1180T>A (p.Ser394Thr) | gnomAD v4 |
| 7 | g.117540320T>C | CA326399 | CFTR | c.1090T>C (p.Ser364Pro) c.*987T>C (n.*987T>C) c.*914T>C (n.*914T>C) c.847T>C (p.Ser283Pro) c.1000T>C (p.Ser334Pro) c.1180T>C (p.Ser394Pro) | ClinVar dbSNP |
| 7 | g.117540320T>G | CA368979039 | CFTR | c.1090T>G (p.Ser364Ala) c.*987T>G (n.*987T>G) c.*914T>G (n.*914T>G) c.847T>G (p.Ser283Ala) c.1000T>G (p.Ser334Ala) c.1180T>G (p.Ser394Ala) | |
| 7 | g.117540320T= | CA1737332676 | CFTR | c.1090T= (p.Ser364=) c.*987T= (n.*987T=) c.*914T= (n.*914T=) c.847T= (p.Ser283=) c.1000T= (p.Ser334=) c.1180T= (p.Ser394=) | |
| 7 | g.117540321C>A | CA368979041 | CFTR | c.1091C>A (p.Ser364Tyr) c.*988C>A (n.*988C>A) c.*915C>A (n.*915C>A) c.848C>A (p.Ser283Tyr) c.1001C>A (p.Ser334Tyr) c.1181C>A (p.Ser394Tyr) | |
| 7 | g.117540321C= | CA1737332681 | CFTR | c.1091C= (p.Ser364=) c.*988C= (n.*988C=) c.*915C= (n.*915C=) c.848C= (p.Ser283=) c.1001C= (p.Ser334=) c.1181C= (p.Ser394=) | |
| 7 | g.117540321C>G | CA368979043 | CFTR | c.1091C>G (p.Ser364Cys) c.*988C>G (n.*988C>G) c.*915C>G (n.*915C>G) c.848C>G (p.Ser283Cys) c.1001C>G (p.Ser334Cys) c.1181C>G (p.Ser394Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540321C>T | CA368979044 | CFTR | c.1091C>T (p.Ser364Phe) c.*988C>T (n.*988C>T) c.*915C>T (n.*915C>T) c.848C>T (p.Ser283Phe) c.1001C>T (p.Ser334Phe) c.1181C>T (p.Ser394Phe) | gnomAD v4 COSMIC |
| 7 | g.117540322T>A | CA457448792 | CFTR | c.1092T>A (p.Ser364=) c.*989T>A (n.*989T>A) c.*916T>A (n.*916T>A) c.849T>A (p.Ser283=) c.1002T>A (p.Ser334=) c.1182T>A (p.Ser394=) | ClinVar dbSNP |
| 7 | g.117540322T>C | CA457448793 | CFTR | c.1092T>C (p.Ser364=) c.*989T>C (n.*989T>C) c.*916T>C (n.*916T>C) c.849T>C (p.Ser283=) c.1002T>C (p.Ser334=) c.1182T>C (p.Ser394=) | |
| 7 | g.117540322T>G | CA457448794 | CFTR | c.1092T>G (p.Ser364=) c.*989T>G (n.*989T>G) c.*916T>G (n.*916T>G) c.849T>G (p.Ser283=) c.1002T>G (p.Ser334=) c.1182T>G (p.Ser394=) | |
| 7 | g.117540322T= | CA1737332688 | CFTR | c.1092T= (p.Ser364=) c.*989T= (n.*989T=) c.*916T= (n.*916T=) c.849T= (p.Ser283=) c.1002T= (p.Ser334=) c.1182T= (p.Ser394=) | |
| 7 | g.117540323C>A | CA368979046 | CFTR | c.1093C>A (p.Leu365Ile) c.*990C>A (n.*990C>A) c.*917C>A (n.*917C>A) c.850C>A (p.Leu284Ile) c.1003C>A (p.Leu335Ile) c.1183C>A (p.Leu395Ile) | |
| 7 | g.117540323C>G | CA368979048 | CFTR | c.1093C>G (p.Leu365Val) c.*990C>G (n.*990C>G) c.*917C>G (n.*917C>G) c.850C>G (p.Leu284Val) c.1003C>G (p.Leu335Val) c.1183C>G (p.Leu395Val) | |
| 7 | g.117540323C>T | CA368979049 | CFTR | c.1093C>T (p.Leu365Phe) c.*990C>T (n.*990C>T) c.*917C>T (n.*917C>T) c.850C>T (p.Leu284Phe) c.1003C>T (p.Leu335Phe) c.1183C>T (p.Leu395Phe) | |
| 7 | g.117540324T>A | CA368979053 | CFTR | c.1094T>A (p.Leu365His) c.*991T>A (n.*991T>A) c.*918T>A (n.*918T>A) c.851T>A (p.Leu284His) c.1004T>A (p.Leu335His) c.1184T>A (p.Leu395His) | |
| 7 | g.117540324T>C | CA326401 | CFTR | c.1094T>C (p.Leu365Pro) c.*991T>C (n.*991T>C) c.*918T>C (n.*918T>C) c.851T>C (p.Leu284Pro) c.1004T>C (p.Leu335Pro) c.1184T>C (p.Leu395Pro) | ClinVar dbSNP COSMIC |
| 7 | g.117540324T>G | CA368979051 | CFTR | c.1094T>G (p.Leu365Arg) c.*991T>G (n.*991T>G) c.*918T>G (n.*918T>G) c.851T>G (p.Leu284Arg) c.1004T>G (p.Leu335Arg) c.1184T>G (p.Leu395Arg) | |
| 7 | g.117540324T= | CA1737332699 | CFTR | c.1094T= (p.Leu365=) c.*991T= (n.*991T=) c.*918T= (n.*918T=) c.851T= (p.Leu284=) c.1004T= (p.Leu335=) c.1184T= (p.Leu395=) | |
| 7 | g.117540325T>A | CA457448795 | CFTR | c.1095T>A (p.Leu365=) c.*992T>A (n.*992T>A) c.*919T>A (n.*919T>A) c.852T>A (p.Leu284=) c.1005T>A (p.Leu335=) c.1185T>A (p.Leu395=) | ClinVar |
| 7 | g.117540325T>C | CA457448796 | CFTR | c.1095T>C (p.Leu365=) c.*992T>C (n.*992T>C) c.*919T>C (n.*919T>C) c.852T>C (p.Leu284=) c.1005T>C (p.Leu335=) c.1185T>C (p.Leu395=) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540325T>G | CA457448797 | CFTR | c.1095T>G (p.Leu365=) c.*992T>G (n.*992T>G) c.*919T>G (n.*919T>G) c.852T>G (p.Leu284=) c.1005T>G (p.Leu335=) c.1185T>G (p.Leu395=) | |
| 7 | g.117540325T= | CA1737332705 | CFTR | c.1095T= (p.Leu365=) c.*992T= (n.*992T=) c.*919T= (n.*919T=) c.852T= (p.Leu284=) c.1005T= (p.Leu335=) c.1185T= (p.Leu395=) | |
| 7 | g.117540326G>A | CA368979055 | CFTR | c.1096G>A (p.Gly366Arg) c.*993G>A (n.*993G>A) c.*920G>A (n.*920G>A) c.853G>A (p.Gly285Arg) c.1006G>A (p.Gly336Arg) c.1186G>A (p.Gly396Arg) | |
| 7 | g.117540326G>C | CA368979056 | CFTR | c.1096G>C (p.Gly366Arg) c.*993G>C (n.*993G>C) c.*920G>C (n.*920G>C) c.853G>C (p.Gly285Arg) c.1006G>C (p.Gly336Arg) c.1186G>C (p.Gly396Arg) | COSMIC |
| 7 | g.117540326G>T | CA368979057 | CFTR | c.1096G>T (p.Gly366Ter) c.*993G>T (n.*993G>T) c.*920G>T (n.*920G>T) c.853G>T (p.Gly285Ter) c.1006G>T (p.Gly336Ter) c.1186G>T (p.Gly396Ter) | |
| 7 | g.117540327G>A | CA368979059 | CFTR | c.1097G>A (p.Gly366Glu) c.*994G>A (n.*994G>A) c.*921G>A (n.*921G>A) c.854G>A (p.Gly285Glu) c.1007G>A (p.Gly336Glu) c.1187G>A (p.Gly396Glu) | |
| 7 | g.117540327G>C | CA368979061 | CFTR | c.1097G>C (p.Gly366Ala) c.*994G>C (n.*994G>C) c.*921G>C (n.*921G>C) c.854G>C (p.Gly285Ala) c.1007G>C (p.Gly336Ala) c.1187G>C (p.Gly396Ala) | gnomAD v4 |
| 7 | g.117540327G>T | CA368979062 | CFTR | c.1097G>T (p.Gly366Val) c.*994G>T (n.*994G>T) c.*921G>T (n.*921G>T) c.854G>T (p.Gly285Val) c.1007G>T (p.Gly336Val) c.1187G>T (p.Gly396Val) | |
| 7 | g.117540328A= | CA1737332710 | CFTR | c.1098A= (p.Gly366=) c.*995A= (n.*995A=) c.*922A= (n.*922A=) c.855A= (p.Gly285=) c.1008A= (p.Gly336=) c.1188A= (p.Gly396=) | |
| 7 | g.117540328A>C | CA457448798 | CFTR | c.1098A>C (p.Gly366=) c.*995A>C (n.*995A>C) c.*922A>C (n.*922A>C) c.855A>C (p.Gly285=) c.1008A>C (p.Gly336=) c.1188A>C (p.Gly396=) | |
| 7 | g.117540328A>G | CA164954169 | CFTR | c.1098A>G (p.Gly366=) c.*995A>G (n.*995A>G) c.*922A>G (n.*922A>G) c.855A>G (p.Gly285=) c.1008A>G (p.Gly336=) c.1188A>G (p.Gly396=) | dbSNP |
| 7 | g.117540328A>T | CA457448799 | CFTR | c.1098A>T (p.Gly366=) c.*995A>T (n.*995A>T) c.*922A>T (n.*922A>T) c.855A>T (p.Gly285=) c.1008A>T (p.Gly336=) c.1188A>T (p.Gly396=) | ClinVar |
| 7 | g.117540329G>A | CA368979065 | CFTR | c.1099G>A (p.Ala367Thr) c.*996G>A (n.*996G>A) c.*923G>A (n.*923G>A) c.856G>A (p.Ala286Thr) c.1009G>A (p.Ala337Thr) c.1189G>A (p.Ala397Thr) | ClinVar COSMIC |
| 7 | g.117540329G>C | CA368979066 | CFTR | c.1099G>C (p.Ala367Pro) c.*996G>C (n.*996G>C) c.*923G>C (n.*923G>C) c.856G>C (p.Ala286Pro) c.1009G>C (p.Ala337Pro) c.1189G>C (p.Ala397Pro) | |
| 7 | g.117540329G>T | CA368979067 | CFTR | c.1099G>T (p.Ala367Ser) c.*996G>T (n.*996G>T) c.*923G>T (n.*923G>T) c.856G>T (p.Ala286Ser) c.1009G>T (p.Ala337Ser) c.1189G>T (p.Ala397Ser) | |
| 7 | g.117540330C>A | CA368979070 | CFTR | c.1100C>A (p.Ala367Glu) c.*997C>A (n.*997C>A) c.*924C>A (n.*924C>A) c.857C>A (p.Ala286Glu) c.1010C>A (p.Ala337Glu) c.1190C>A (p.Ala397Glu) | |
| 7 | g.117540330C>G | CA368979071 | CFTR | c.1100C>G (p.Ala367Gly) c.*997C>G (n.*997C>G) c.*924C>G (n.*924C>G) c.857C>G (p.Ala286Gly) c.1010C>G (p.Ala337Gly) c.1190C>G (p.Ala397Gly) | |
| 7 | g.117540330C>T | CA368979072 | CFTR | c.1100C>T (p.Ala367Val) c.*997C>T (n.*997C>T) c.*924C>T (n.*924C>T) c.857C>T (p.Ala286Val) c.1010C>T (p.Ala337Val) c.1190C>T (p.Ala397Val) | |
| 7 | g.117540331A>C | CA457448800 | CFTR | c.1101A>C (p.Ala367=) c.*998A>C (n.*998A>C) c.*925A>C (n.*925A>C) c.858A>C (p.Ala286=) c.1011A>C (p.Ala337=) c.1191A>C (p.Ala397=) | |
| 7 | g.117540331A>G | CA457448801 | CFTR | c.1101A>G (p.Ala367=) c.*998A>G (n.*998A>G) c.*925A>G (n.*925A>G) c.858A>G (p.Ala286=) c.1011A>G (p.Ala337=) c.1191A>G (p.Ala397=) | |
| 7 | g.117540331A>T | CA457448802 | CFTR | c.1101A>T (p.Ala367=) c.*998A>T (n.*998A>T) c.*925A>T (n.*925A>T) c.858A>T (p.Ala286=) c.1011A>T (p.Ala337=) c.1191A>T (p.Ala397=) | |
| 7 | g.117540332A>C | CA368979075 | CFTR | c.1102A>C (p.Ile368Leu) c.*999A>C (n.*999A>C) c.*926A>C (n.*926A>C) c.859A>C (p.Ile287Leu) c.1012A>C (p.Ile338Leu) c.1192A>C (p.Ile398Leu) | |
| 7 | g.117540332A>G | CA368979076 | CFTR | c.1102A>G (p.Ile368Val) c.*999A>G (n.*999A>G) c.*926A>G (n.*926A>G) c.859A>G (p.Ile287Val) c.1012A>G (p.Ile338Val) c.1192A>G (p.Ile398Val) | |
| 7 | g.117540332A>T | CA368979074 | CFTR | c.1102A>T (p.Ile368Leu) c.*999A>T (n.*999A>T) c.*926A>T (n.*926A>T) c.859A>T (p.Ile287Leu) c.1012A>T (p.Ile338Leu) c.1192A>T (p.Ile398Leu) | |
| 7 | g.117540333T>A | CA368979078 | CFTR | c.1103T>A (p.Ile368Lys) c.*1000T>A (n.*1000T>A) c.*927T>A (n.*927T>A) c.860T>A (p.Ile287Lys) c.1013T>A (p.Ile338Lys) c.1193T>A (p.Ile398Lys) | |
| 7 | g.117540333T>C | CA368979080 | CFTR | c.1103T>C (p.Ile368Thr) c.*1000T>C (n.*1000T>C) c.*927T>C (n.*927T>C) c.860T>C (p.Ile287Thr) c.1013T>C (p.Ile338Thr) c.1193T>C (p.Ile398Thr) | |
| 7 | g.117540333T>G | CA368979081 | CFTR | c.1103T>G (p.Ile368Arg) c.*1000T>G (n.*1000T>G) c.*927T>G (n.*927T>G) c.860T>G (p.Ile287Arg) c.1013T>G (p.Ile338Arg) c.1193T>G (p.Ile398Arg) | |
| 7 | g.117540333T= | CA1737332713 | CFTR | c.1103T= (p.Ile368=) c.*1000T= (n.*1000T=) c.*927T= (n.*927T=) c.860T= (p.Ile287=) c.1013T= (p.Ile338=) c.1193T= (p.Ile398=) | |
| 7 | g.117540334A>C | CA457448803 | CFTR | c.1104A>C (p.Ile368=) c.*1001A>C (n.*1001A>C) c.*928A>C (n.*928A>C) c.861A>C (p.Ile287=) c.1014A>C (p.Ile338=) c.1194A>C (p.Ile398=) | |
| 7 | g.117540334A>G | CA368979083 | CFTR | c.1104A>G (p.Ile368Met) c.*1001A>G (n.*1001A>G) c.*928A>G (n.*928A>G) c.861A>G (p.Ile287Met) c.1014A>G (p.Ile338Met) c.1194A>G (p.Ile398Met) | |
| 7 | g.117540334A>T | CA457448804 | CFTR | c.1104A>T (p.Ile368=) c.*1001A>T (n.*1001A>T) c.*928A>T (n.*928A>T) c.861A>T (p.Ile287=) c.1014A>T (p.Ile338=) c.1194A>T (p.Ile398=) | |
| 7 | g.117540336_117540341dup | CA326403 | CFTR | c.1106_1111dup (p.Lys370_Ile371insAsnLys) c.*1003_*1008dup (n.*1003_*1008dup) c.*930_*935dup (n.*930_*935dup) c.863_868dup (p.Lys289_Ile290insAsnLys) c.1016_1021dup (p.Lys340_Ile341insAsnLys) c.1196_1201dup (p.Lys400_Ile401insAsnLys) | ClinVar dbSNP |
| 7 | g.117540335A>C | CA368979085 | CFTR | c.1105A>C (p.Asn369His) c.*1002A>C (n.*1002A>C) c.*929A>C (n.*929A>C) c.862A>C (p.Asn288His) c.1015A>C (p.Asn339His) c.1195A>C (p.Asn399His) | |
| 7 | g.117540335A>G | CA368979086 | CFTR | c.1105A>G (p.Asn369Asp) c.*1002A>G (n.*1002A>G) c.*929A>G (n.*929A>G) c.862A>G (p.Asn288Asp) c.1015A>G (p.Asn339Asp) c.1195A>G (p.Asn399Asp) | gnomAD v4 |
| 7 | g.117540335A>T | CA368979087 | CFTR | c.1105A>T (p.Asn369Tyr) c.*1002A>T (n.*1002A>T) c.*929A>T (n.*929A>T) c.862A>T (p.Asn288Tyr) c.1015A>T (p.Asn339Tyr) c.1195A>T (p.Asn399Tyr) | |
| 7 | g.117540336A= | CA1737332725 | CFTR | c.1106A= (p.Asn369=) c.*1003A= (n.*1003A=) c.*930A= (n.*930A=) c.863A= (p.Asn288=) c.1016A= (p.Asn339=) c.1196A= (p.Asn399=) | |
| 7 | g.117540336A>C | CA368979089 | CFTR | c.1106A>C (p.Asn369Thr) c.*1003A>C (n.*1003A>C) c.*930A>C (n.*930A>C) c.863A>C (p.Asn288Thr) c.1016A>C (p.Asn339Thr) c.1196A>C (p.Asn399Thr) | |
| 7 | g.117540336A>G | CA368979091 | CFTR | c.1106A>G (p.Asn369Ser) c.*1003A>G (n.*1003A>G) c.*930A>G (n.*930A>G) c.863A>G (p.Asn288Ser) c.1016A>G (p.Asn339Ser) c.1196A>G (p.Asn399Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540336A>T | CA368979093 | CFTR | c.1106A>T (p.Asn369Ile) c.*1003A>T (n.*1003A>T) c.*930A>T (n.*930A>T) c.863A>T (p.Asn288Ile) c.1016A>T (p.Asn339Ile) c.1196A>T (p.Asn399Ile) | |
| 7 | g.117540337C>A | CA368979096 | CFTR | c.1107C>A (p.Asn369Lys) c.*1004C>A (n.*1004C>A) c.*931C>A (n.*931C>A) c.864C>A (p.Asn288Lys) c.1017C>A (p.Asn339Lys) c.1197C>A (p.Asn399Lys) | dbSNP gnomAD v4 |
| 7 | g.117540337C= | CA1737332728 | CFTR | c.1107C= (p.Asn369=) c.*1004C= (n.*1004C=) c.*931C= (n.*931C=) c.864C= (p.Asn288=) c.1017C= (p.Asn339=) c.1197C= (p.Asn399=) | |
| 7 | g.117540337C>G | CA368979094 | CFTR | c.1107C>G (p.Asn369Lys) c.*1004C>G (n.*1004C>G) c.*931C>G (n.*931C>G) c.864C>G (p.Asn288Lys) c.1017C>G (p.Asn339Lys) c.1197C>G (p.Asn399Lys) | |
| 7 | g.117540337C>T | CA164954181 | CFTR | c.1107C>T (p.Asn369=) c.*1004C>T (n.*1004C>T) c.*931C>T (n.*931C>T) c.864C>T (p.Asn288=) c.1017C>T (p.Asn339=) c.1197C>T (p.Asn399=) | dbSNP |
| 7 | g.117540338A= | CA1737332731 | CFTR | c.1108A= (p.Lys370=) c.*1005A= (n.*1005A=) c.*932A= (n.*932A=) c.865A= (p.Lys289=) c.1018A= (p.Lys340=) c.1198A= (p.Lys400=) | |
| 7 | g.117540338A>C | CA368979098 | CFTR | c.1108A>C (p.Lys370Gln) c.*1005A>C (n.*1005A>C) c.*932A>C (n.*932A>C) c.865A>C (p.Lys289Gln) c.1018A>C (p.Lys340Gln) c.1198A>C (p.Lys400Gln) | |
| 7 | g.117540338A>G | CA368979100 | CFTR | c.1108A>G (p.Lys370Glu) c.*1005A>G (n.*1005A>G) c.*932A>G (n.*932A>G) c.865A>G (p.Lys289Glu) c.1018A>G (p.Lys340Glu) c.1198A>G (p.Lys400Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540338A>T | CA368979101 | CFTR | c.1108A>T (p.Lys370Ter) c.*1005A>T (n.*1005A>T) c.*932A>T (n.*932A>T) c.865A>T (p.Lys289Ter) c.1018A>T (p.Lys340Ter) c.1198A>T (p.Lys400Ter) | |
| 7 | g.117540341dup | CA2573130299 | CFTR | c.1111dup (p.Ile371AsnfsTer11) c.*1008dup (n.*1008dup) c.*935dup (n.*935dup) c.868dup (p.Ile290AsnfsTer11) c.1021dup (p.Ile341AsnfsTer11) c.1201dup (p.Ile401AsnfsTer11) | |
| 7 | g.117540339A>C | CA368979103 | CFTR | c.1109A>C (p.Lys370Thr) c.*1006A>C (n.*1006A>C) c.*933A>C (n.*933A>C) c.866A>C (p.Lys289Thr) c.1019A>C (p.Lys340Thr) c.1199A>C (p.Lys400Thr) | |
| 7 | g.117540339A>G | CA368979105 | CFTR | c.1109A>G (p.Lys370Arg) c.*1006A>G (n.*1006A>G) c.*933A>G (n.*933A>G) c.866A>G (p.Lys289Arg) c.1019A>G (p.Lys340Arg) c.1199A>G (p.Lys400Arg) | |
| 7 | g.117540339A>T | CA368979106 | CFTR | c.1109A>T (p.Lys370Ile) c.*1006A>T (n.*1006A>T) c.*933A>T (n.*933A>T) c.866A>T (p.Lys289Ile) c.1019A>T (p.Lys340Ile) c.1199A>T (p.Lys400Ile) | |
| 7 | g.117540340A>C | CA368979108 | CFTR | c.1110A>C (p.Lys370Asn) c.*1007A>C (n.*1007A>C) c.*934A>C (n.*934A>C) c.867A>C (p.Lys289Asn) c.1020A>C (p.Lys340Asn) c.1200A>C (p.Lys400Asn) | |
| 7 | g.117540340A>G | CA457448571 | CFTR | c.1110A>G (p.Lys370=) c.*1007A>G (n.*1007A>G) c.*934A>G (n.*934A>G) c.867A>G (p.Lys289=) c.1020A>G (p.Lys340=) c.1200A>G (p.Lys400=) | |
| 7 | g.117540340A>T | CA368979109 | CFTR | c.1110A>T (p.Lys370Asn) c.*1007A>T (n.*1007A>T) c.*934A>T (n.*934A>T) c.867A>T (p.Lys289Asn) c.1020A>T (p.Lys340Asn) c.1200A>T (p.Lys400Asn) | |
| 7 | g.117540341A= | CA1737332736 | CFTR | c.1111A= (p.Ile371=) c.*1008A= (n.*1008A=) c.*935A= (n.*935A=) c.868A= (p.Ile290=) c.1021A= (p.Ile341=) c.1201A= (p.Ile401=) | |
| 7 | g.117540341A>C | CA368979111 | CFTR | c.1111A>C (p.Ile371Leu) c.*1008A>C (n.*1008A>C) c.*935A>C (n.*935A>C) c.868A>C (p.Ile290Leu) c.1021A>C (p.Ile341Leu) c.1201A>C (p.Ile401Leu) | |
| 7 | g.117540341A>G | CA164954182 | CFTR | c.1111A>G (p.Ile371Val) c.*1008A>G (n.*1008A>G) c.*935A>G (n.*935A>G) c.868A>G (p.Ile290Val) c.1021A>G (p.Ile341Val) c.1201A>G (p.Ile401Val) | dbSNP |
| 7 | g.117540341A>T | CA368979113 | CFTR | c.1111A>T (p.Ile371Leu) c.*1008A>T (n.*1008A>T) c.*935A>T (n.*935A>T) c.868A>T (p.Ile290Leu) c.1021A>T (p.Ile341Leu) c.1201A>T (p.Ile401Leu) | |
| 7 | g.117540342T>A | CA368979117 | CFTR | c.1112T>A (p.Ile371Lys) c.*1009T>A (n.*1009T>A) c.*936T>A (n.*936T>A) c.869T>A (p.Ile290Lys) c.1022T>A (p.Ile341Lys) c.1202T>A (p.Ile401Lys) | |
| 7 | g.117540342T>C | CA4450889 | CFTR | c.1112T>C (p.Ile371Thr) c.*1009T>C (n.*1009T>C) c.*936T>C (n.*936T>C) c.869T>C (p.Ile290Thr) c.1022T>C (p.Ile341Thr) c.1202T>C (p.Ile401Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540342T>G | CA368979114 | CFTR | c.1112T>G (p.Ile371Arg) c.*1009T>G (n.*1009T>G) c.*936T>G (n.*936T>G) c.869T>G (p.Ile290Arg) c.1022T>G (p.Ile341Arg) c.1202T>G (p.Ile401Arg) | |
| 7 | g.117540342T= | CA1737332743 | CFTR | c.1112T= (p.Ile371=) c.*1009T= (n.*1009T=) c.*936T= (n.*936T=) c.869T= (p.Ile290=) c.1022T= (p.Ile341=) c.1202T= (p.Ile401=) | |
| 7 | g.117540343A= | CA1737332750 | CFTR | c.1113A= (p.Ile371=) c.*1010A= (n.*1010A=) c.*937A= (n.*937A=) c.870A= (p.Ile290=) c.1023A= (p.Ile341=) c.1203A= (p.Ile401=) | |
| 7 | g.117540343A>C | CA457448578 | CFTR | c.1113A>C (p.Ile371=) c.*1010A>C (n.*1010A>C) c.*937A>C (n.*937A>C) c.870A>C (p.Ile290=) c.1023A>C (p.Ile341=) c.1203A>C (p.Ile401=) | |
| 7 | g.117540343A>G | CA4450890 | CFTR | c.1113A>G (p.Ile371Met) c.*1010A>G (n.*1010A>G) c.*937A>G (n.*937A>G) c.870A>G (p.Ile290Met) c.1023A>G (p.Ile341Met) c.1203A>G (p.Ile401Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117540343A>T | CA457448579 | CFTR | c.1113A>T (p.Ile371=) c.*1010A>T (n.*1010A>T) c.*937A>T (n.*937A>T) c.870A>T (p.Ile290=) c.1023A>T (p.Ile341=) c.1203A>T (p.Ile401=) | |
| 7 | g.117540344C>A | CA368979120 | CFTR | c.1114C>A (p.Gln372Lys) c.*1011C>A (n.*1011C>A) c.*938C>A (n.*938C>A) c.871C>A (p.Gln291Lys) c.1024C>A (p.Gln342Lys) c.1204C>A (p.Gln402Lys) | |
| 7 | g.117540344C= | CA1737332754 | CFTR | c.1114C= (p.Gln372=) c.*1011C= (n.*1011C=) c.*938C= (n.*938C=) c.871C= (p.Gln291=) c.1024C= (p.Gln342=) c.1204C= (p.Gln402=) | |
| 7 | g.117540344C>G | CA368979119 | CFTR | c.1114C>G (p.Gln372Glu) c.*1011C>G (n.*1011C>G) c.*938C>G (n.*938C>G) c.871C>G (p.Gln291Glu) c.1024C>G (p.Gln342Glu) c.1204C>G (p.Gln402Glu) | |
| 7 | g.117540344C>T | CA368979121 | CFTR | c.1114C>T (p.Gln372Ter) c.*1011C>T (n.*1011C>T) c.*938C>T (n.*938C>T) c.871C>T (p.Gln291Ter) c.1024C>T (p.Gln342Ter) c.1204C>T (p.Gln402Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540344_117540345delinsCA | CA1737332753 | CFTR | c.1114_1115delinsCA (p.Gln372=) c.*1011_*1012delinsCA (n.*1011_*1012delinsCA) c.*938_*939delinsCA (n.*938_*939delinsCA) c.871_872delinsCA (p.Gln291=) c.1024_1025delinsCA (p.Gln342=) c.1204_1205delinsCA (p.Gln402=) | |
| 7 | g.117540345del | CA913189994 | CFTR | c.1115del (p.Gln372ArgfsTer16) c.*1012del (n.*1012del) c.*939del (n.*939del) c.872del (p.Gln291ArgfsTer16) c.1025del (p.Gln342ArgfsTer16) c.1205del (p.Gln402ArgfsTer16) | ClinVar dbSNP |
| 7 | g.117540345A= | CA1737332761 | CFTR | c.1115A= (p.Gln372=) c.*1012A= (n.*1012A=) c.*939A= (n.*939A=) c.872A= (p.Gln291=) c.1025A= (p.Gln342=) c.1205A= (p.Gln402=) | |
| 7 | g.117540345A>C | CA368979122 | CFTR | c.1115A>C (p.Gln372Pro) c.*1012A>C (n.*1012A>C) c.*939A>C (n.*939A>C) c.872A>C (p.Gln291Pro) c.1025A>C (p.Gln342Pro) c.1205A>C (p.Gln402Pro) | |
| 7 | g.117540345A>G | CA368979123 | CFTR | c.1115A>G (p.Gln372Arg) c.*1012A>G (n.*1012A>G) c.*939A>G (n.*939A>G) c.872A>G (p.Gln291Arg) c.1025A>G (p.Gln342Arg) c.1205A>G (p.Gln402Arg) | ClinVar dbSNP |
| 7 | g.117540345A>T | CA368979125 | CFTR | c.1115A>T (p.Gln372Leu) c.*1012A>T (n.*1012A>T) c.*939A>T (n.*939A>T) c.872A>T (p.Gln291Leu) c.1025A>T (p.Gln342Leu) c.1205A>T (p.Gln402Leu) | ClinVar |
| 7 | g.117540346G>A | CA457448583 | CFTR | c.1116G>A (p.Gln372=) c.*1013G>A (n.*1013G>A) c.*940G>A (n.*940G>A) c.873G>A (p.Gln291=) c.1026G>A (p.Gln342=) c.1206G>A (p.Gln402=) | |
| 7 | g.117540346G>C | CA368979126 | CFTR | c.1116G>C (p.Gln372His) c.*1013G>C (n.*1013G>C) c.*940G>C (n.*940G>C) c.873G>C (p.Gln291His) c.1026G>C (p.Gln342His) c.1206G>C (p.Gln402His) | |
| 7 | g.117540346G= | CA1737332770 | CFTR | c.1116G= (p.Gln372=) c.*1013G= (n.*1013G=) c.*940G= (n.*940G=) c.873G= (p.Gln291=) c.1026G= (p.Gln342=) c.1206G= (p.Gln402=) | |
| 7 | g.117540346G>T | CA368979127 | CFTR | c.1116G>T (p.Gln372His) c.*1013G>T (n.*1013G>T) c.*940G>T (n.*940G>T) c.873G>T (p.Gln291His) c.1026G>T (p.Gln342His) c.1206G>T (p.Gln402His) | ClinVar dbSNP |
| 7 | g.117540347G>A | CA328079 | CFTR | c.1116+1G>A (n.1116+1G>A) c.*1013+1G>A (n.*1013+1G>A) c.*940+1G>A (n.*940+1G>A) c.873+1G>A (n.873+1G>A) c.1026+1G>A (n.1026+1G>A) c.1206+1G>A (n.1206+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540347G>C | CA326406 | CFTR | c.1116+1G>C (n.1116+1G>C) c.*1013+1G>C (n.*1013+1G>C) c.*940+1G>C (n.*940+1G>C) c.873+1G>C (n.873+1G>C) c.1026+1G>C (n.1026+1G>C) c.1206+1G>C (n.1206+1G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117540347G= | CA1737332783 | CFTR | c.1116+1G= (n.1116+1G=) c.*1013+1G= (n.*1013+1G=) c.*940+1G= (n.*940+1G=) c.873+1G= (n.873+1G=) c.1026+1G= (n.1026+1G=) c.1206+1G= (n.1206+1G=) | |
| 7 | g.117540347G>T | CA368979129 | CFTR | c.1116+1G>T (n.1116+1G>T) c.*1013+1G>T (n.*1013+1G>T) c.*940+1G>T (n.*940+1G>T) c.873+1G>T (n.873+1G>T) c.1026+1G>T (n.1026+1G>T) c.1206+1G>T (n.1206+1G>T) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540348T>A | CA368979131 | CFTR | c.1116+2T>A (n.1116+2T>A) c.*1013+2T>A (n.*1013+2T>A) c.*940+2T>A (n.*940+2T>A) c.873+2T>A (n.873+2T>A) c.1026+2T>A (n.1026+2T>A) c.1206+2T>A (n.1206+2T>A) | ClinVar |
| 7 | g.117540348T>C | CA4450891 | CFTR | c.1116+2T>C (n.1116+2T>C) c.*1013+2T>C (n.*1013+2T>C) c.*940+2T>C (n.*940+2T>C) c.873+2T>C (n.873+2T>C) c.1026+2T>C (n.1026+2T>C) c.1206+2T>C (n.1206+2T>C) | ClinVar dbSNP ExAC gnomAD v4 |
| 7 | g.117540348T>G | CA368979134 | CFTR | c.1116+2T>G (n.1116+2T>G) c.*1013+2T>G (n.*1013+2T>G) c.*940+2T>G (n.*940+2T>G) c.873+2T>G (n.873+2T>G) c.1026+2T>G (n.1026+2T>G) c.1206+2T>G (n.1206+2T>G) | |
| 7 | g.117540348T= | CA1737332788 | CFTR | c.1116+2T= (n.1116+2T=) c.*1013+2T= (n.*1013+2T=) c.*940+2T= (n.*940+2T=) c.873+2T= (n.873+2T=) c.1026+2T= (n.1026+2T=) c.1206+2T= (n.1206+2T=) | |
| 7 | g.117540350del | CA2578999923 | CFTR | c.1116+4del (n.1116+4del) c.*1013+4del (n.*1013+4del) c.*940+4del (n.*940+4del) c.873+4del (n.873+4del) c.1026+4del (n.1026+4del) c.1206+4del (n.1206+4del) | |
| 7 | g.117540350A>G | CA2684618159 | CFTR | c.1116+4A>G (n.1116+4A>G) c.*1013+4A>G (n.*1013+4A>G) c.*940+4A>G (n.*940+4A>G) c.873+4A>G (n.873+4A>G) c.1026+4A>G (n.1026+4A>G) c.1206+4A>G (n.1206+4A>G) | gnomAD v4 |