Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117536670_117540100del | CA916084100 | CFTR | c.866_870del c.*763_*767del c.*690_*694del c.623_627del c.776_780del c.956_960del | |
7 | g.117540097T>G | CA327677 | CFTR | c.870-3T>G (n.870-3T>G) c.*767-3T>G (n.*767-3T>G) c.*694-3T>G (n.*694-3T>G) c.627-3T>G (n.627-3T>G) c.780-3T>G (n.780-3T>G) c.960-3T>G (n.960-3T>G) | ClinVar dbSNP |
7 | g.117540097T= | CA1737331748 | CFTR | c.870-3T= (n.870-3T=) c.*767-3T= (n.*767-3T=) c.*694-3T= (n.*694-3T=) c.627-3T= (n.627-3T=) c.780-3T= (n.780-3T=) c.960-3T= (n.960-3T=) | |
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.117540098A= | CA1737331762 | CFTR | c.870-2A= (n.870-2A=) c.*767-2A= (n.*767-2A=) c.*694-2A= (n.*694-2A=) c.627-2A= (n.627-2A=) c.780-2A= (n.780-2A=) c.960-2A= (n.960-2A=) | |
7 | g.117540098A>C | CA368977800 | CFTR | c.870-2A>C (n.870-2A>C) c.*767-2A>C (n.*767-2A>C) c.*694-2A>C (n.*694-2A>C) c.627-2A>C (n.627-2A>C) c.780-2A>C (n.780-2A>C) c.960-2A>C (n.960-2A>C) | |
7 | g.117540098A>G | CA368977807 | CFTR | c.870-2A>G (n.870-2A>G) c.*767-2A>G (n.*767-2A>G) c.*694-2A>G (n.*694-2A>G) c.627-2A>G (n.627-2A>G) c.780-2A>G (n.780-2A>G) c.960-2A>G (n.960-2A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117540098A>T | CA368977812 | CFTR | c.870-2A>T (n.870-2A>T) c.*767-2A>T (n.*767-2A>T) c.*694-2A>T (n.*694-2A>T) c.627-2A>T (n.627-2A>T) c.780-2A>T (n.780-2A>T) c.960-2A>T (n.960-2A>T) | dbSNP |
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.117540099G>A | CA368977816 | CFTR | c.870-1G>A (n.870-1G>A) c.*767-1G>A (n.*767-1G>A) c.*694-1G>A (n.*694-1G>A) c.627-1G>A (n.627-1G>A) c.780-1G>A (n.780-1G>A) c.960-1G>A (n.960-1G>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117540099G>C | CA368977818 | CFTR | c.870-1G>C (n.870-1G>C) c.*767-1G>C (n.*767-1G>C) c.*694-1G>C (n.*694-1G>C) c.627-1G>C (n.627-1G>C) c.780-1G>C (n.780-1G>C) c.960-1G>C (n.960-1G>C) | ClinVar dbSNP |
7 | g.117540099G= | CA1737331767 | CFTR | c.870-1G= (n.870-1G=) c.*767-1G= (n.*767-1G=) c.*694-1G= (n.*694-1G=) c.627-1G= (n.627-1G=) c.780-1G= (n.780-1G=) c.960-1G= (n.960-1G=) | |
7 | g.117540099G>T | CA368977822 | CFTR | c.870-1G>T (n.870-1G>T) c.*767-1G>T (n.*767-1G>T) c.*694-1G>T (n.*694-1G>T) c.627-1G>T (n.627-1G>T) c.780-1G>T (n.780-1G>T) c.960-1G>T (n.960-1G>T) | |
7 | g.117540100A>C | CA368977824 | CFTR | c.870A>C (p.Gln290His) c.*767A>C (n.*767A>C) c.*694A>C (n.*694A>C) c.627A>C (p.Gln209His) c.780A>C (p.Gln260His) c.960A>C (p.Gln320His) | |
7 | g.117540100A>G | CA457448533 | CFTR | c.870A>G (p.Gln290=) c.*767A>G (n.*767A>G) c.*694A>G (n.*694A>G) c.627A>G (p.Gln209=) c.780A>G (p.Gln260=) c.960A>G (p.Gln320=) | |
7 | g.117540100A>T | CA368977826 | CFTR | c.870A>T (p.Gln290His) c.*767A>T (n.*767A>T) c.*694A>T (n.*694A>T) c.627A>T (p.Gln209His) c.780A>T (p.Gln260His) c.960A>T (p.Gln320His) | |
7 | g.117540101A= | CA1737331773 | CFTR | c.871A= (p.Thr291=) c.*768A= (n.*768A=) c.*695A= (n.*695A=) c.628A= (p.Thr210=) c.781A= (p.Thr261=) c.961A= (p.Thr321=) | |
7 | g.117540101A>C | CA368977831 | CFTR | c.871A>C (p.Thr291Pro) c.*768A>C (n.*768A>C) c.*695A>C (n.*695A>C) c.628A>C (p.Thr210Pro) c.781A>C (p.Thr261Pro) c.961A>C (p.Thr321Pro) | gnomAD v4 |
7 | g.117540101A>G | CA368977829 | CFTR | c.871A>G (p.Thr291Ala) c.*768A>G (n.*768A>G) c.*695A>G (n.*695A>G) c.628A>G (p.Thr210Ala) c.781A>G (p.Thr261Ala) c.961A>G (p.Thr321Ala) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117540101A>T | CA368977827 | CFTR | c.871A>T (p.Thr291Ser) c.*768A>T (n.*768A>T) c.*695A>T (n.*695A>T) c.628A>T (p.Thr210Ser) c.781A>T (p.Thr261Ser) c.961A>T (p.Thr321Ser) | |
7 | g.117540102C>A | CA368977837 | CFTR | c.872C>A (p.Thr291Lys) c.*769C>A (n.*769C>A) c.*696C>A (n.*696C>A) c.629C>A (p.Thr210Lys) c.782C>A (p.Thr261Lys) c.962C>A (p.Thr321Lys) | |
7 | g.117540102C= | CA1737331776 | CFTR | c.872C= (p.Thr291=) c.*769C= (n.*769C=) c.*696C= (n.*696C=) c.629C= (p.Thr210=) c.782C= (p.Thr261=) c.962C= (p.Thr321=) | |
7 | g.117540102C>G | CA4450858 | CFTR | c.872C>G (p.Thr291Arg) c.*769C>G (n.*769C>G) c.*696C>G (n.*696C>G) c.629C>G (p.Thr210Arg) c.782C>G (p.Thr261Arg) c.962C>G (p.Thr321Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117540102C>T | CA4450857 | CFTR | c.872C>T (p.Thr291Ile) c.*769C>T (n.*769C>T) c.*696C>T (n.*696C>T) c.629C>T (p.Thr210Ile) c.782C>T (p.Thr261Ile) c.962C>T (p.Thr321Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117540102_117540104delinsCAG | CA1737331779 | CFTR | c.872_874delinsCAG (p.Thr291=) c.*769_*771delinsCAG (n.*769_*771delinsCAG) c.*696_*698delinsCAG (n.*696_*698delinsCAG) c.629_631delinsCAG (p.Thr210=) c.782_784delinsCAG (p.Thr261=) c.962_964delinsCAG (p.Thr321=) | |
7 | g.117540103A= | CA1737331785 | CFTR | c.873A= (p.Thr291=) c.*770A= (n.*770A=) c.*697A= (n.*697A=) c.630A= (p.Thr210=) c.783A= (p.Thr261=) c.963A= (p.Thr321=) | |
7 | g.117540103A>C | CA457448536 | CFTR | c.873A>C (p.Thr291=) c.*770A>C (n.*770A>C) c.*697A>C (n.*697A>C) c.630A>C (p.Thr210=) c.783A>C (p.Thr261=) c.963A>C (p.Thr321=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117540103A>G | CA457448538 | CFTR | c.873A>G (p.Thr291=) c.*770A>G (n.*770A>G) c.*697A>G (n.*697A>G) c.630A>G (p.Thr210=) c.783A>G (p.Thr261=) c.963A>G (p.Thr321=) | |
7 | g.117540103A>T | CA457448540 | CFTR | c.873A>T (p.Thr291=) c.*770A>T (n.*770A>T) c.*697A>T (n.*697A>T) c.630A>T (p.Thr210=) c.783A>T (p.Thr261=) c.963A>T (p.Thr321=) | |
7 | g.117540104_117540105del | CA1139660104 | CFTR | c.874_875del (p.Glu292ThrfsTer15) c.*771_*772del (n.*771_*772del) c.*698_*699del (n.*698_*699del) c.631_632del (p.Glu211ThrfsTer15) c.784_785del (p.Glu262ThrfsTer15) c.964_965del (p.Glu322ThrfsTer15) | ClinVar dbSNP gnomAD v4 |
7 | g.117540104G>A | CA327678 | CFTR | c.874G>A (p.Glu292Lys) c.*771G>A (n.*771G>A) c.*698G>A (n.*698G>A) c.631G>A (p.Glu211Lys) c.784G>A (p.Glu262Lys) c.964G>A (p.Glu322Lys) | ClinVar dbSNP |
7 | g.117540104G>C | CA368977845 | CFTR | c.874G>C (p.Glu292Gln) c.*771G>C (n.*771G>C) c.*698G>C (n.*698G>C) c.631G>C (p.Glu211Gln) c.784G>C (p.Glu262Gln) c.964G>C (p.Glu322Gln) | |
7 | g.117540104G= | CA1737331792 | CFTR | c.874G= (p.Glu292=) c.*771G= (n.*771G=) c.*698G= (n.*698G=) c.631G= (p.Glu211=) c.784G= (p.Glu262=) c.964G= (p.Glu322=) | |
7 | g.117540104G>T | CA368977848 | CFTR | c.874G>T (p.Glu292Ter) c.*771G>T (n.*771G>T) c.*698G>T (n.*698G>T) c.631G>T (p.Glu211Ter) c.784G>T (p.Glu262Ter) c.964G>T (p.Glu322Ter) | ClinVar dbSNP COSMIC |
7 | g.117540105A= | CA1737331800 | CFTR | c.875A= (p.Glu292=) c.*772A= (n.*772A=) c.*699A= (n.*699A=) c.632A= (p.Glu211=) c.785A= (p.Glu262=) c.965A= (p.Glu322=) | |
7 | g.117540105A>C | CA368977853 | CFTR | c.875A>C (p.Glu292Ala) c.*772A>C (n.*772A>C) c.*699A>C (n.*699A>C) c.632A>C (p.Glu211Ala) c.785A>C (p.Glu262Ala) c.965A>C (p.Glu322Ala) | |
7 | g.117540105A>G | CA368977854 | CFTR | c.875A>G (p.Glu292Gly) c.*772A>G (n.*772A>G) c.*699A>G (n.*699A>G) c.632A>G (p.Glu211Gly) c.785A>G (p.Glu262Gly) c.965A>G (p.Glu322Gly) | ClinVar dbSNP |
7 | g.117540105A>T | CA368977855 | CFTR | c.875A>T (p.Glu292Val) c.*772A>T (n.*772A>T) c.*699A>T (n.*699A>T) c.632A>T (p.Glu211Val) c.785A>T (p.Glu262Val) c.965A>T (p.Glu322Val) | |
7 | g.117540106A>C | CA368977857 | CFTR | c.876A>C (p.Glu292Asp) c.*773A>C (n.*773A>C) c.*700A>C (n.*700A>C) c.633A>C (p.Glu211Asp) c.786A>C (p.Glu262Asp) c.966A>C (p.Glu322Asp) | |
7 | g.117540106A>G | CA457448543 | CFTR | c.876A>G (p.Glu292=) c.*773A>G (n.*773A>G) c.*700A>G (n.*700A>G) c.633A>G (p.Glu211=) c.786A>G (p.Glu262=) c.966A>G (p.Glu322=) | ClinVar dbSNP gnomAD v4 |
7 | g.117540106A>T | CA368977860 | CFTR | c.876A>T (p.Glu292Asp) c.*773A>T (n.*773A>T) c.*700A>T (n.*700A>T) c.633A>T (p.Glu211Asp) c.786A>T (p.Glu262Asp) c.966A>T (p.Glu322Asp) | |
7 | g.117540107C>A | CA327680 | CFTR | c.877C>A (p.Leu293Met) c.*774C>A (n.*774C>A) c.*701C>A (n.*701C>A) c.634C>A (p.Leu212Met) c.787C>A (p.Leu263Met) c.967C>A (p.Leu323Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117540107C= | CA1737331807 | CFTR | c.877C= (p.Leu293=) c.*774C= (n.*774C=) c.*701C= (n.*701C=) c.634C= (p.Leu212=) c.787C= (p.Leu263=) c.967C= (p.Leu323=) | |
7 | g.117540107C>G | CA368977866 | CFTR | c.877C>G (p.Leu293Val) c.*774C>G (n.*774C>G) c.*701C>G (n.*701C>G) c.634C>G (p.Leu212Val) c.787C>G (p.Leu263Val) c.967C>G (p.Leu323Val) | |
7 | g.117540107C>T | CA457448545 | CFTR | c.877C>T (p.Leu293=) c.*774C>T (n.*774C>T) c.*701C>T (n.*701C>T) c.634C>T (p.Leu212=) c.787C>T (p.Leu263=) c.967C>T (p.Leu323=) | |
7 | g.117540108T>A | CA368977885 | CFTR | c.878T>A (p.Leu293Gln) c.*775T>A (n.*775T>A) c.*702T>A (n.*702T>A) c.635T>A (p.Leu212Gln) c.788T>A (p.Leu263Gln) c.968T>A (p.Leu323Gln) | |
7 | g.117540108T>C | CA368977869 | CFTR | c.878T>C (p.Leu293Pro) c.*775T>C (n.*775T>C) c.*702T>C (n.*702T>C) c.635T>C (p.Leu212Pro) c.788T>C (p.Leu263Pro) c.968T>C (p.Leu323Pro) | ClinVar dbSNP |
7 | g.117540108T>G | CA368977881 | CFTR | c.878T>G (p.Leu293Arg) c.*775T>G (n.*775T>G) c.*702T>G (n.*702T>G) c.635T>G (p.Leu212Arg) c.788T>G (p.Leu263Arg) c.968T>G (p.Leu323Arg) | ClinVar |
7 | g.117540109G>A | CA457448546 | CFTR | c.879G>A (p.Leu293=) c.*776G>A (n.*776G>A) c.*703G>A (n.*703G>A) c.636G>A (p.Leu212=) c.789G>A (p.Leu263=) c.969G>A (p.Leu323=) | dbSNP COSMIC |
7 | g.117540109G>C | CA457448548 | CFTR | c.879G>C (p.Leu293=) c.*776G>C (n.*776G>C) c.*703G>C (n.*703G>C) c.636G>C (p.Leu212=) c.789G>C (p.Leu263=) c.969G>C (p.Leu323=) | gnomAD v4 |