| 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.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 |