| 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.117540236del | CA2695208308 | CFTR | c.1006del (p.Ile336TyrfsTer?) c.*903del (n.*903del) c.*830del (n.*830del) c.763del (p.Ile255TyrfsTer?) c.916del (p.Ile306TyrfsTer?) c.1096del (p.Ile366TyrfsTer?) | |
| 7 | g.117540236A= | CA1737332152 | CFTR | c.1006A= (p.Ile336=) c.*903A= (n.*903A=) c.*830A= (n.*830A=) c.763A= (p.Ile255=) c.916A= (p.Ile306=) c.1096A= (p.Ile366=) | |
| 7 | g.117540236A>C | CA368978752 | CFTR | c.1006A>C (p.Ile336Leu) c.*903A>C (n.*903A>C) c.*830A>C (n.*830A>C) c.763A>C (p.Ile255Leu) c.916A>C (p.Ile306Leu) c.1096A>C (p.Ile366Leu) | |
| 7 | g.117540236A>G | CA368978754 | CFTR | c.1006A>G (p.Ile336Val) c.*903A>G (n.*903A>G) c.*830A>G (n.*830A>G) c.763A>G (p.Ile255Val) c.916A>G (p.Ile306Val) c.1096A>G (p.Ile366Val) | |
| 7 | g.117540236A>T | CA368978756 | CFTR | c.1006A>T (p.Ile336Leu) c.*903A>T (n.*903A>T) c.*830A>T (n.*830A>T) c.763A>T (p.Ile255Leu) c.916A>T (p.Ile306Leu) c.1096A>T (p.Ile366Leu) | |
| 7 | g.117540238_117540249dup | CA326363 | CFTR | c.1008_1019dup (p.Ile340_Ser341insPheThrThrIle) c.*905_*916dup (n.*905_*916dup) c.*832_*843dup (n.*832_*843dup) c.765_776dup (p.Ile259_Ser260insPheThrThrIle) c.918_929dup (p.Ile310_Ser311insPheThrThrIle) c.1098_1109dup (p.Ile370_Ser371insPheThrThrIle) | ClinVar dbSNP |
| 7 | g.117540236_117540237insG | CA326362 | CFTR | c.1006_1007insG (p.Ile336SerfsTer28) c.*903_*904insG (n.*903_*904insG) c.*830_*831insG (n.*830_*831insG) c.763_764insG (p.Ile255SerfsTer28) c.916_917insG (p.Ile306SerfsTer28) c.1096_1097insG (p.Ile366SerfsTer28) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540237T>A | CA345302 | CFTR | c.1007T>A (p.Ile336Lys) c.*904T>A (n.*904T>A) c.*831T>A (n.*831T>A) c.764T>A (p.Ile255Lys) c.917T>A (p.Ile306Lys) c.1097T>A (p.Ile366Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540237T>C | CA4450876 | CFTR | c.1007T>C (p.Ile336Thr) c.*904T>C (n.*904T>C) c.*831T>C (n.*831T>C) c.764T>C (p.Ile255Thr) c.917T>C (p.Ile306Thr) c.1097T>C (p.Ile366Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117540237T>G | CA368978760 | CFTR | c.1007T>G (p.Ile336Arg) c.*904T>G (n.*904T>G) c.*831T>G (n.*831T>G) c.764T>G (p.Ile255Arg) c.917T>G (p.Ile306Arg) c.1097T>G (p.Ile366Arg) | |
| 7 | g.117540237T= | CA1737332163 | CFTR | c.1007T= (p.Ile336=) c.*904T= (n.*904T=) c.*831T= (n.*831T=) c.764T= (p.Ile255=) c.917T= (p.Ile306=) c.1097T= (p.Ile366=) | |
| 7 | g.117540238A>C | CA457448749 | CFTR | c.1008A>C (p.Ile336=) c.*905A>C (n.*905A>C) c.*832A>C (n.*832A>C) c.765A>C (p.Ile255=) c.918A>C (p.Ile306=) c.1098A>C (p.Ile366=) | |
| 7 | g.117540238A>G | CA368978762 | CFTR | c.1008A>G (p.Ile336Met) c.*905A>G (n.*905A>G) c.*832A>G (n.*832A>G) c.765A>G (p.Ile255Met) c.918A>G (p.Ile306Met) c.1098A>G (p.Ile366Met) | |
| 7 | g.117540238A>T | CA457448750 | CFTR | c.1008A>T (p.Ile336=) c.*905A>T (n.*905A>T) c.*832A>T (n.*832A>T) c.765A>T (p.Ile255=) c.918A>T (p.Ile306=) c.1098A>T (p.Ile366=) | |
| 7 | g.117540239T>A | CA368978763 | CFTR | c.1009T>A (p.Phe337Ile) c.*906T>A (n.*906T>A) c.*833T>A (n.*833T>A) c.766T>A (p.Phe256Ile) c.919T>A (p.Phe307Ile) c.1099T>A (p.Phe367Ile) | |
| 7 | g.117540239T>C | CA368978764 | CFTR | c.1009T>C (p.Phe337Leu) c.*906T>C (n.*906T>C) c.*833T>C (n.*833T>C) c.766T>C (p.Phe256Leu) c.919T>C (p.Phe307Leu) c.1099T>C (p.Phe367Leu) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117540239T>G | CA4450877 | CFTR | c.1009T>G (p.Phe337Val) c.*906T>G (n.*906T>G) c.*833T>G (n.*833T>G) c.766T>G (p.Phe256Val) c.919T>G (p.Phe307Val) c.1099T>G (p.Phe367Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117540239T= | CA1737332173 | CFTR | c.1009T= (p.Phe337=) c.*906T= (n.*906T=) c.*833T= (n.*833T=) c.766T= (p.Phe256=) c.919T= (p.Phe307=) c.1099T= (p.Phe367=) | |
| 7 | g.117540240T>A | CA368978769 | CFTR | c.1010T>A (p.Phe337Tyr) c.*907T>A (n.*907T>A) c.*834T>A (n.*834T>A) c.767T>A (p.Phe256Tyr) c.920T>A (p.Phe307Tyr) c.1100T>A (p.Phe367Tyr) | |
| 7 | g.117540240T>C | CA368978770 | CFTR | c.1010T>C (p.Phe337Ser) c.*907T>C (n.*907T>C) c.*834T>C (n.*834T>C) c.767T>C (p.Phe256Ser) c.920T>C (p.Phe307Ser) c.1100T>C (p.Phe367Ser) | |
| 7 | g.117540240T>G | CA368978767 | CFTR | c.1010T>G (p.Phe337Cys) c.*907T>G (n.*907T>G) c.*834T>G (n.*834T>G) c.767T>G (p.Phe256Cys) c.920T>G (p.Phe307Cys) c.1100T>G (p.Phe367Cys) | |
| 7 | g.117540241C>A | CA368978773 | CFTR | c.1011C>A (p.Phe337Leu) c.*908C>A (n.*908C>A) c.*835C>A (n.*835C>A) c.768C>A (p.Phe256Leu) c.921C>A (p.Phe307Leu) c.1101C>A (p.Phe367Leu) | COSMIC |
| 7 | g.117540241C= | CA1737332178 | CFTR | c.1011C= (p.Phe337=) c.*908C= (n.*908C=) c.*835C= (n.*835C=) c.768C= (p.Phe256=) c.921C= (p.Phe307=) c.1101C= (p.Phe367=) | |
| 7 | g.117540241C>G | CA368978771 | CFTR | c.1011C>G (p.Phe337Leu) c.*908C>G (n.*908C>G) c.*835C>G (n.*835C>G) c.768C>G (p.Phe256Leu) c.921C>G (p.Phe307Leu) c.1101C>G (p.Phe367Leu) | ClinVar dbSNP |
| 7 | g.117540241C>T | CA457448751 | CFTR | c.1011C>T (p.Phe337=) c.*908C>T (n.*908C>T) c.*835C>T (n.*835C>T) c.768C>T (p.Phe256=) c.921C>T (p.Phe307=) c.1101C>T (p.Phe367=) | |
| 7 | g.117540242_117540243del | CA2580076458 | CFTR | c.1012_1013del (p.Thr338HisfsTer25) c.*909_*910del (n.*909_*910del) c.*836_*837del (n.*836_*837del) c.769_770del (p.Thr257HisfsTer25) c.922_923del (p.Thr308HisfsTer25) c.1102_1103del (p.Thr368HisfsTer25) | ClinVar |
| 7 | g.117540246_117540248del | CA2695208309 | CFTR | c.1016_1018del (p.Thr339del) c.*913_*915del (n.*913_*915del) c.*840_*842del (n.*840_*842del) c.773_775del (p.Thr258del) c.926_928del (p.Thr309del) c.1106_1108del (p.Thr369del) | |
| 7 | g.117540242A= | CA1737332183 | CFTR | c.1012A= (p.Thr338=) c.*909A= (n.*909A=) c.*836A= (n.*836A=) c.769A= (p.Thr257=) c.922A= (p.Thr308=) c.1102A= (p.Thr368=) | |
| 7 | g.117540242A>C | CA368978777 | CFTR | c.1012A>C (p.Thr338Pro) c.*909A>C (n.*909A>C) c.*836A>C (n.*836A>C) c.769A>C (p.Thr257Pro) c.922A>C (p.Thr308Pro) c.1102A>C (p.Thr368Pro) | |
| 7 | g.117540242A>G | CA326367 | CFTR | c.1012A>G (p.Thr338Ala) c.*909A>G (n.*909A>G) c.*836A>G (n.*836A>G) c.769A>G (p.Thr257Ala) c.922A>G (p.Thr308Ala) c.1102A>G (p.Thr368Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117540242A>T | CA368978776 | CFTR | c.1012A>T (p.Thr338Ser) c.*909A>T (n.*909A>T) c.*836A>T (n.*836A>T) c.769A>T (p.Thr257Ser) c.922A>T (p.Thr308Ser) c.1102A>T (p.Thr368Ser) | |
| 7 | g.117540243C>A | CA368978779 | CFTR | c.1013C>A (p.Thr338Asn) c.*910C>A (n.*910C>A) c.*837C>A (n.*837C>A) c.770C>A (p.Thr257Asn) c.923C>A (p.Thr308Asn) c.1103C>A (p.Thr368Asn) | dbSNP |
| 7 | g.117540243C= | CA1737332199 | CFTR | c.1013C= (p.Thr338=) c.*910C= (n.*910C=) c.*837C= (n.*837C=) c.770C= (p.Thr257=) c.923C= (p.Thr308=) c.1103C= (p.Thr368=) | |
| 7 | g.117540243C>G | CA368978781 | CFTR | c.1013C>G (p.Thr338Ser) c.*910C>G (n.*910C>G) c.*837C>G (n.*837C>G) c.770C>G (p.Thr257Ser) c.923C>G (p.Thr308Ser) c.1103C>G (p.Thr368Ser) | |
| 7 | g.117540243C>T | CA325581 | CFTR | c.1013C>T (p.Thr338Ile) c.*910C>T (n.*910C>T) c.*837C>T (n.*837C>T) c.770C>T (p.Thr257Ile) c.923C>T (p.Thr308Ile) c.1103C>T (p.Thr368Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 7 | g.117540244C>A | CA164953748 | CFTR | c.1014C>A (p.Thr338=) c.*911C>A (n.*911C>A) c.*838C>A (n.*838C>A) c.771C>A (p.Thr257=) c.924C>A (p.Thr308=) c.1104C>A (p.Thr368=) | ClinVar dbSNP |
| 7 | g.117540244C= | CA1737332206 | CFTR | c.1014C= (p.Thr338=) c.*911C= (n.*911C=) c.*838C= (n.*838C=) c.771C= (p.Thr257=) c.924C= (p.Thr308=) c.1104C= (p.Thr368=) | |
| 7 | g.117540244C>G | CA457448752 | CFTR | c.1014C>G (p.Thr338=) c.*911C>G (n.*911C>G) c.*838C>G (n.*838C>G) c.771C>G (p.Thr257=) c.924C>G (p.Thr308=) c.1104C>G (p.Thr368=) | |
| 7 | g.117540244C>T | CA457448753 | CFTR | c.1014C>T (p.Thr338=) c.*911C>T (n.*911C>T) c.*838C>T (n.*838C>T) c.771C>T (p.Thr257=) c.924C>T (p.Thr308=) c.1104C>T (p.Thr368=) | dbSNP |
| 7 | g.117540245A>C | CA368978783 | CFTR | c.1015A>C (p.Thr339Pro) c.*912A>C (n.*912A>C) c.*839A>C (n.*839A>C) c.772A>C (p.Thr258Pro) c.925A>C (p.Thr309Pro) c.1105A>C (p.Thr369Pro) | |
| 7 | g.117540245A>G | CA368978785 | CFTR | c.1015A>G (p.Thr339Ala) c.*912A>G (n.*912A>G) c.*839A>G (n.*839A>G) c.772A>G (p.Thr258Ala) c.925A>G (p.Thr309Ala) c.1105A>G (p.Thr369Ala) | |
| 7 | g.117540245A>T | CA368978787 | CFTR | c.1015A>T (p.Thr339Ser) c.*912A>T (n.*912A>T) c.*839A>T (n.*839A>T) c.772A>T (p.Thr258Ser) c.925A>T (p.Thr309Ser) c.1105A>T (p.Thr369Ser) | |
| 7 | g.117540246C>A | CA368978788 | CFTR | c.1016C>A (p.Thr339Asn) c.*913C>A (n.*913C>A) c.*840C>A (n.*840C>A) c.773C>A (p.Thr258Asn) c.926C>A (p.Thr309Asn) c.1106C>A (p.Thr369Asn) | ClinVar |
| 7 | g.117540246C>G | CA368978789 | CFTR | c.1016C>G (p.Thr339Ser) c.*913C>G (n.*913C>G) c.*840C>G (n.*840C>G) c.773C>G (p.Thr258Ser) c.926C>G (p.Thr309Ser) c.1106C>G (p.Thr369Ser) | ClinVar |
| 7 | g.117540246C>T | CA368978791 | CFTR | c.1016C>T (p.Thr339Ile) c.*913C>T (n.*913C>T) c.*840C>T (n.*840C>T) c.773C>T (p.Thr258Ile) c.926C>T (p.Thr309Ile) c.1106C>T (p.Thr369Ile) | |
| 7 | g.117540247C>A | CA457448754 | CFTR | c.1017C>A (p.Thr339=) c.*914C>A (n.*914C>A) c.*841C>A (n.*841C>A) c.774C>A (p.Thr258=) c.927C>A (p.Thr309=) c.1107C>A (p.Thr369=) | dbSNP |
| 7 | g.117540247C= | CA1737332211 | CFTR | c.1017C= (p.Thr339=) c.*914C= (n.*914C=) c.*841C= (n.*841C=) c.774C= (p.Thr258=) c.927C= (p.Thr309=) c.1107C= (p.Thr369=) | |
| 7 | g.117540247C>G | CA457448755 | CFTR | c.1017C>G (p.Thr339=) c.*914C>G (n.*914C>G) c.*841C>G (n.*841C>G) c.774C>G (p.Thr258=) c.927C>G (p.Thr309=) c.1107C>G (p.Thr369=) |