Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117602152_117612006delCA325806CFTRc.2620-674_3367+198del
c.*2334-674_*3081+198del
c.2437-674_3184+198del
c.*920-674_*1667+198del
c.*2444-674_*3191+198del
c.2194-674_2941+198del
c.211-674_958+198del
c.270-674_1017+198del
c.1402-674_2149+198del
c.2530-674_3277+198del
c.2710-674_3457+198del
c.2377-674_3124+198del
7g.117602152_117612040delCA2499218685CFTRc.2620-674_3367+232del
c.*2334-674_*3081+232del
c.2437-674_3184+232del
c.*920-674_*1667+232del
c.*2444-674_*3191+232del
c.2194-674_2941+232del
c.211-674_958+232del
c.270-674_1017+232del
c.1402-674_2149+232del
c.2530-674_3277+232del
c.2710-674_3457+232del
c.2377-674_3124+232del
 ClinVar
7g.117604867_117612068delCA913190213CFTRc.2908+1085_3367+260del
c.*2622+1085_*3081+260del
c.2725+1085_3184+260del
c.*1208+1085_*1667+260del
c.*2732+1085_*3191+260del
c.2482+1085_2941+260del
c.499+1085_958+260del
c.558+1085_1017+260del
c.1690+1085_2149+260del
c.2818+1085_3277+260del
c.2998+1085_3457+260del
c.2665+1085_3124+260del
 ClinVar
7g.117606038_117613002delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTGCA2580076402CFTRc.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.*2623-636_*3081+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.2726-636_3184+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.*1209-636_*1667+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.*2733-636_*3191+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.2483-636_2941+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.500-636_958+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.559-636_1017+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.1691-636_2149+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.2819-636_3277+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.2999-636_3457+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
c.2666-636_3124+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
 ClinVar
7g.117606676_117611810delCA913190200CFTRc.2911_3367+2del
c.*2625_*3081+2del
c.2728_3184+2del
c.*1211_*1667+2del
c.*2735_*3191+2del
c.2485_2941+2del
c.502_958+2del
c.561_1017+2del
c.1693_2149+2del
c.2821_3277+2del
c.3001_3457+2del
c.2668_3124+2del
 ClinVar
7g.117607926_117616824delCA1139532136CFTRc.2988+1173_3468+2111del
c.*2702+1173_*3182+2111del
c.2805+1173_3285+2111del
c.*1288+1173_*1843+2111del
c.2988+1173_3462+2111del
c.*2812+1173_*3292+2111del
c.2562+1173_3042+2111del
c.579+1173_1059+2111del
c.638+1173_1118+2111del
c.1770+1173_2250+2111del
c.2898+1173_3378+2111del
c.3078+1173_3558+2111del
c.2745+1173_3225+2111del
7g.117608369_117612164delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCCCA2580076408CFTRc.2988+1616_3367+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
c.*2702+1616_*3081+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
c.2805+1616_3184+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
c.*1288+1616_*1667+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
c.*2812+1616_*3191+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
c.2562+1616_2941+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
c.579+1616_958+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
c.638+1616_1017+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
c.1770+1616_2149+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
c.2898+1616_3277+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
c.3078+1616_3457+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
c.2745+1616_3124+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
 ClinVar
7g.117609542_117612056delCA325807CFTRc.2989-977_3367+248del
c.*2703-977_*3081+248del
c.2806-977_3184+248del
c.*1289-977_*1667+248del
c.*2813-977_*3191+248del
c.2563-977_2941+248del
c.580-977_958+248del
c.639-977_1017+248del
c.1771-977_2149+248del
c.2899-977_3277+248del
c.3079-977_3457+248del
c.2746-977_3124+248del
 ClinVar
7g.117610519_117611808delCA913189830CFTRc.2989_3367del
c.*2703_*3081del
c.2806_3184del
c.*1289_*1667del
c.*2813_*3191del
c.2563_2941del
c.580_958del
c.639_1017del
c.1771_2149del
c.2899_3277del
c.3079_3457del
c.2746_3124del
 ClinVar
7g.117610519_117614713delCA913189831CFTRc.2989_3468del
c.*2703_*3182del
c.2806_3285del
c.*1289_*1843del
c.2989_3462del
c.*2813_*3292del
c.2563_3042del
c.580_1059del
c.639_1118del
c.1771_2250del
c.2899_3378del
c.3079_3558del
c.2746_3225del
 ClinVar
7g.117611582_117614714delCA913189834CFTRc.3141_3468+1del
c.*2855_*3182+1del
c.2958_3285+1del
c.*1441_*1843+1del
c.3141_3462+1del
c.*2965_*3292+1del
c.2715_3042+1del
c.732_1059+1del
c.791_1118+1del
c.1923_2250+1del
c.3051_3378+1del
c.3231_3558+1del
c.2898_3225+1del
 ClinVar
7g.117611633_117611717delCA2697557585CFTRc.3192_3276del (p.Leu1065CysfsTer9)
c.*2906_*2990del (n.*2906_*2990del)
c.3009_3093del (p.Leu1004CysfsTer9)
c.*1492_*1576del (n.*1492_*1576del)
c.*3016_*3100del (n.*3016_*3100del)
c.2766_2850del (p.Leu923CysfsTer9)
c.783_867del (p.Leu262CysfsTer9)
c.842_926del
c.1974_2058del (p.Leu659CysfsTer9)
c.3102_3186del (p.Leu1035CysfsTer9)
c.17_101del
c.3282_3366del (p.Leu1095CysfsTer9)
c.2949_3033del (p.Leu984CysfsTer9)
 ClinVar
7g.117611661T>ACA368992134CFTRc.3220T>A (p.Phe1074Ile)
c.*2934T>A (n.*2934T>A)
c.3037T>A (p.Phe1013Ile)
c.*1520T>A (n.*1520T>A)
c.*3044T>A (n.*3044T>A)
c.2794T>A (p.Phe932Ile)
c.811T>A (p.Phe271Ile)
c.870T>A
c.2002T>A (p.Phe668Ile)
c.3130T>A (p.Phe1044Ile)
c.45T>A
c.3310T>A (p.Phe1104Ile)
c.2977T>A (p.Phe993Ile)
7g.117611661T>CCA368992136CFTRc.3220T>C (p.Phe1074Leu)
c.*2934T>C (n.*2934T>C)
c.3037T>C (p.Phe1013Leu)
c.*1520T>C (n.*1520T>C)
c.*3044T>C (n.*3044T>C)
c.2794T>C (p.Phe932Leu)
c.811T>C (p.Phe271Leu)
c.870T>C
c.2002T>C (p.Phe668Leu)
c.3130T>C (p.Phe1044Leu)
c.45T>C
c.3310T>C (p.Phe1104Leu)
c.2977T>C (p.Phe993Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117611661T>GCA368992138CFTRc.3220T>G (p.Phe1074Val)
c.*2934T>G (n.*2934T>G)
c.3037T>G (p.Phe1013Val)
c.*1520T>G (n.*1520T>G)
c.*3044T>G (n.*3044T>G)
c.2794T>G (p.Phe932Val)
c.811T>G (p.Phe271Val)
c.870T>G
c.2002T>G (p.Phe668Val)
c.3130T>G (p.Phe1044Val)
c.45T>G
c.3310T>G (p.Phe1104Val)
c.2977T>G (p.Phe993Val)
7g.117611661T=CA1737387077CFTRc.3220T= (p.Phe1074=)
c.*2934T= (n.*2934T=)
c.3037T= (p.Phe1013=)
c.*1520T= (n.*1520T=)
c.*3044T= (n.*3044T=)
c.2794T= (p.Phe932=)
c.811T= (p.Phe271=)
c.870T=
c.2002T= (p.Phe668=)
c.3130T= (p.Phe1044=)
c.45T=
c.3310T= (p.Phe1104=)
c.2977T= (p.Phe993=)
7g.117611662T>ACA368992139CFTRc.3221T>A (p.Phe1074Tyr)
c.*2935T>A (n.*2935T>A)
c.3038T>A (p.Phe1013Tyr)
c.*1521T>A (n.*1521T>A)
c.*3045T>A (n.*3045T>A)
c.2795T>A (p.Phe932Tyr)
c.812T>A (p.Phe271Tyr)
c.871T>A
c.2003T>A (p.Phe668Tyr)
c.3131T>A (p.Phe1044Tyr)
c.46T>A
c.3311T>A (p.Phe1104Tyr)
c.2978T>A (p.Phe993Tyr)
7g.117611662T>CCA368992141CFTRc.3221T>C (p.Phe1074Ser)
c.*2935T>C (n.*2935T>C)
c.3038T>C (p.Phe1013Ser)
c.*1521T>C (n.*1521T>C)
c.*3045T>C (n.*3045T>C)
c.2795T>C (p.Phe932Ser)
c.812T>C (p.Phe271Ser)
c.871T>C
c.2003T>C (p.Phe668Ser)
c.3131T>C (p.Phe1044Ser)
c.46T>C
c.3311T>C (p.Phe1104Ser)
c.2978T>C (p.Phe993Ser)
7g.117611662T>GCA368992142CFTRc.3221T>G (p.Phe1074Cys)
c.*2935T>G (n.*2935T>G)
c.3038T>G (p.Phe1013Cys)
c.*1521T>G (n.*1521T>G)
c.*3045T>G (n.*3045T>G)
c.2795T>G (p.Phe932Cys)
c.812T>G (p.Phe271Cys)
c.871T>G
c.2003T>G (p.Phe668Cys)
c.3131T>G (p.Phe1044Cys)
c.46T>G
c.3311T>G (p.Phe1104Cys)
c.2978T>G (p.Phe993Cys)
7g.117611663T>ACA327103CFTRc.3222T>A (p.Phe1074Leu)
c.*2936T>A (n.*2936T>A)
c.3039T>A (p.Phe1013Leu)
c.*1522T>A (n.*1522T>A)
c.*3046T>A (n.*3046T>A)
c.2796T>A (p.Phe932Leu)
c.813T>A (p.Phe271Leu)
c.872T>A
c.2004T>A (p.Phe668Leu)
c.3132T>A (p.Phe1044Leu)
c.47T>A
c.3312T>A (p.Phe1104Leu)
c.2979T>A (p.Phe993Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611663T>CCA457230024CFTRc.3222T>C (p.Phe1074=)
c.*2936T>C (n.*2936T>C)
c.3039T>C (p.Phe1013=)
c.*1522T>C (n.*1522T>C)
c.*3046T>C (n.*3046T>C)
c.2796T>C (p.Phe932=)
c.813T>C (p.Phe271=)
c.872T>C
c.2004T>C (p.Phe668=)
c.3132T>C (p.Phe1044=)
c.47T>C
c.3312T>C (p.Phe1104=)
c.2979T>C (p.Phe993=)
7g.117611663T>GCA368992145CFTRc.3222T>G (p.Phe1074Leu)
c.*2936T>G (n.*2936T>G)
c.3039T>G (p.Phe1013Leu)
c.*1522T>G (n.*1522T>G)
c.*3046T>G (n.*3046T>G)
c.2796T>G (p.Phe932Leu)
c.813T>G (p.Phe271Leu)
c.872T>G
c.2004T>G (p.Phe668Leu)
c.3132T>G (p.Phe1044Leu)
c.47T>G
c.3312T>G (p.Phe1104Leu)
c.2979T>G (p.Phe993Leu)
 dbSNP
7g.117611663T=CA1737387082CFTRc.3222T= (p.Phe1074=)
c.*2936T= (n.*2936T=)
c.3039T= (p.Phe1013=)
c.*1522T= (n.*1522T=)
c.*3046T= (n.*3046T=)
c.2796T= (p.Phe932=)
c.813T= (p.Phe271=)
c.872T=
c.2004T= (p.Phe668=)
c.3132T= (p.Phe1044=)
c.47T=
c.3312T= (p.Phe1104=)
c.2979T= (p.Phe993=)
7g.117611664G>ACA368992146CFTRc.3223G>A (p.Glu1075Lys)
c.*2937G>A (n.*2937G>A)
c.3040G>A (p.Glu1014Lys)
c.*1523G>A (n.*1523G>A)
c.*3047G>A (n.*3047G>A)
c.2797G>A (p.Glu933Lys)
c.814G>A (p.Glu272Lys)
c.873G>A
c.2005G>A (p.Glu669Lys)
c.3133G>A (p.Glu1045Lys)
c.48G>A
c.3313G>A (p.Glu1105Lys)
c.2980G>A (p.Glu994Lys)
7g.117611664G>CCA368992147CFTRc.3223G>C (p.Glu1075Gln)
c.*2937G>C (n.*2937G>C)
c.3040G>C (p.Glu1014Gln)
c.*1523G>C (n.*1523G>C)
c.*3047G>C (n.*3047G>C)
c.2797G>C (p.Glu933Gln)
c.814G>C (p.Glu272Gln)
c.873G>C
c.2005G>C (p.Glu669Gln)
c.3133G>C (p.Glu1045Gln)
c.48G>C
c.3313G>C (p.Glu1105Gln)
c.2980G>C (p.Glu994Gln)
7g.117611664G>TCA368992149CFTRc.3223G>T (p.Glu1075Ter)
c.*2937G>T (n.*2937G>T)
c.3040G>T (p.Glu1014Ter)
c.*1523G>T (n.*1523G>T)
c.*3047G>T (n.*3047G>T)
c.2797G>T (p.Glu933Ter)
c.814G>T (p.Glu272Ter)
c.873G>T
c.2005G>T (p.Glu669Ter)
c.3133G>T (p.Glu1045Ter)
c.48G>T
c.3313G>T (p.Glu1105Ter)
c.2980G>T (p.Glu994Ter)
7g.117611665A>CCA368992153CFTRc.3224A>C (p.Glu1075Ala)
c.*2938A>C (n.*2938A>C)
c.3041A>C (p.Glu1014Ala)
c.*1524A>C (n.*1524A>C)
c.*3048A>C (n.*3048A>C)
c.2798A>C (p.Glu933Ala)
c.815A>C (p.Glu272Ala)
c.874A>C
c.2006A>C (p.Glu669Ala)
c.3134A>C (p.Glu1045Ala)
c.49A>C
c.3314A>C (p.Glu1105Ala)
c.2981A>C (p.Glu994Ala)
7g.117611665A>GCA368992154CFTRc.3224A>G (p.Glu1075Gly)
c.*2938A>G (n.*2938A>G)
c.3041A>G (p.Glu1014Gly)
c.*1524A>G (n.*1524A>G)
c.*3048A>G (n.*3048A>G)
c.2798A>G (p.Glu933Gly)
c.815A>G (p.Glu272Gly)
c.874A>G
c.2006A>G (p.Glu669Gly)
c.3134A>G (p.Glu1045Gly)
c.49A>G
c.3314A>G (p.Glu1105Gly)
c.2981A>G (p.Glu994Gly)
7g.117611665A>TCA368992151CFTRc.3224A>T (p.Glu1075Val)
c.*2938A>T (n.*2938A>T)
c.3041A>T (p.Glu1014Val)
c.*1524A>T (n.*1524A>T)
c.*3048A>T (n.*3048A>T)
c.2798A>T (p.Glu933Val)
c.815A>T (p.Glu272Val)
c.874A>T
c.2006A>T (p.Glu669Val)
c.3134A>T (p.Glu1045Val)
c.49A>T
c.3314A>T (p.Glu1105Val)
c.2981A>T (p.Glu994Val)
7g.117611666A>CCA368992158CFTRc.3225A>C (p.Glu1075Asp)
c.*2939A>C (n.*2939A>C)
c.3042A>C (p.Glu1014Asp)
c.*1525A>C (n.*1525A>C)
c.*3049A>C (n.*3049A>C)
c.2799A>C (p.Glu933Asp)
c.816A>C (p.Glu272Asp)
c.875A>C
c.2007A>C (p.Glu669Asp)
c.3135A>C (p.Glu1045Asp)
c.50A>C
c.3315A>C (p.Glu1105Asp)
c.2982A>C (p.Glu994Asp)
7g.117611666A>GCA457230025CFTRc.3225A>G (p.Glu1075=)
c.*2939A>G (n.*2939A>G)
c.3042A>G (p.Glu1014=)
c.*1525A>G (n.*1525A>G)
c.*3049A>G (n.*3049A>G)
c.2799A>G (p.Glu933=)
c.816A>G (p.Glu272=)
c.875A>G
c.2007A>G (p.Glu669=)
c.3135A>G (p.Glu1045=)
c.50A>G
c.3315A>G (p.Glu1105=)
c.2982A>G (p.Glu994=)
7g.117611666A>TCA368992156CFTRc.3225A>T (p.Glu1075Asp)
c.*2939A>T (n.*2939A>T)
c.3042A>T (p.Glu1014Asp)
c.*1525A>T (n.*1525A>T)
c.*3049A>T (n.*3049A>T)
c.2799A>T (p.Glu933Asp)
c.816A>T (p.Glu272Asp)
c.875A>T
c.2007A>T (p.Glu669Asp)
c.3135A>T (p.Glu1045Asp)
c.50A>T
c.3315A>T (p.Glu1105Asp)
c.2982A>T (p.Glu994Asp)
7g.117611667A>CCA368992164CFTRc.3226A>C (p.Thr1076Pro)
c.*2940A>C (n.*2940A>C)
c.3043A>C (p.Thr1015Pro)
c.*1526A>C (n.*1526A>C)
c.*3050A>C (n.*3050A>C)
c.2800A>C (p.Thr934Pro)
c.817A>C (p.Thr273Pro)
c.876A>C
c.2008A>C (p.Thr670Pro)
c.3136A>C (p.Thr1046Pro)
c.51A>C
c.3316A>C (p.Thr1106Pro)
c.2983A>C (p.Thr995Pro)
 ClinVar
7g.117611667A>GCA368992160CFTRc.3226A>G (p.Thr1076Ala)
c.*2940A>G (n.*2940A>G)
c.3043A>G (p.Thr1015Ala)
c.*1526A>G (n.*1526A>G)
c.*3050A>G (n.*3050A>G)
c.2800A>G (p.Thr934Ala)
c.817A>G (p.Thr273Ala)
c.876A>G
c.2008A>G (p.Thr670Ala)
c.3136A>G (p.Thr1046Ala)
c.51A>G
c.3316A>G (p.Thr1106Ala)
c.2983A>G (p.Thr995Ala)
 ClinVar
7g.117611667A>TCA368992162CFTRc.3226A>T (p.Thr1076Ser)
c.*2940A>T (n.*2940A>T)
c.3043A>T (p.Thr1015Ser)
c.*1526A>T (n.*1526A>T)
c.*3050A>T (n.*3050A>T)
c.2800A>T (p.Thr934Ser)
c.817A>T (p.Thr273Ser)
c.876A>T
c.2008A>T (p.Thr670Ser)
c.3136A>T (p.Thr1046Ser)
c.51A>T
c.3316A>T (p.Thr1106Ser)
c.2983A>T (p.Thr995Ser)
7g.117611667_117611668delCA2695208434CFTRc.3226_3227del (p.Thr1076SerfsTer?)
c.*2940_*2941del (n.*2940_*2941del)
c.3043_3044del (p.Thr1015SerfsTer?)
c.*1526_*1527del (n.*1526_*1527del)
c.*3050_*3051del (n.*3050_*3051del)
c.2800_2801del (p.Thr934SerfsTer?)
c.817_818del (p.Thr273SerfsTer?)
c.876_877del
c.2008_2009del (p.Thr670SerfsTer?)
c.3136_3137del (p.Thr1046SerfsTer?)
c.51_52del
c.3316_3317del (p.Thr1106SerfsTer?)
c.2983_2984del (p.Thr995SerfsTer?)
7g.117611667_117611669delinsACTCA1737387089CFTRc.3226_3228delinsACT (p.Thr1076=)
c.*2940_*2942delinsACT (n.*2940_*2942delinsACT)
c.3043_3045delinsACT (p.Thr1015=)
c.*1526_*1528delinsACT (n.*1526_*1528delinsACT)
c.*3050_*3052delinsACT (n.*3050_*3052delinsACT)
c.2800_2802delinsACT (p.Thr934=)
c.817_819delinsACT (p.Thr273=)
c.876_878delinsACT
c.2008_2010delinsACT (p.Thr670=)
c.3136_3138delinsACT (p.Thr1046=)
c.51_53delinsACT
c.3316_3318delinsACT (p.Thr1106=)
c.2983_2985delinsACT (p.Thr995=)
7g.117611668C>ACA368992165CFTRc.3227C>A (p.Thr1076Asn)
c.*2941C>A (n.*2941C>A)
c.3044C>A (p.Thr1015Asn)
c.*1527C>A (n.*1527C>A)
c.*3051C>A (n.*3051C>A)
c.2801C>A (p.Thr934Asn)
c.818C>A (p.Thr273Asn)
c.877C>A
c.2009C>A (p.Thr670Asn)
c.3137C>A (p.Thr1046Asn)
c.52C>A
c.3317C>A (p.Thr1106Asn)
c.2984C>A (p.Thr995Asn)
 COSMIC
7g.117611668C>GCA368992167CFTRc.3227C>G (p.Thr1076Ser)
c.*2941C>G (n.*2941C>G)
c.3044C>G (p.Thr1015Ser)
c.*1527C>G (n.*1527C>G)
c.*3051C>G (n.*3051C>G)
c.2801C>G (p.Thr934Ser)
c.818C>G (p.Thr273Ser)
c.877C>G
c.2009C>G (p.Thr670Ser)
c.3137C>G (p.Thr1046Ser)
c.52C>G
c.3317C>G (p.Thr1106Ser)
c.2984C>G (p.Thr995Ser)
7g.117611668C>TCA368992169CFTRc.3227C>T (p.Thr1076Ile)
c.*2941C>T (n.*2941C>T)
c.3044C>T (p.Thr1015Ile)
c.*1527C>T (n.*1527C>T)
c.*3051C>T (n.*3051C>T)
c.2801C>T (p.Thr934Ile)
c.818C>T (p.Thr273Ile)
c.877C>T
c.2009C>T (p.Thr670Ile)
c.3137C>T (p.Thr1046Ile)
c.52C>T
c.3317C>T (p.Thr1106Ile)
c.2984C>T (p.Thr995Ile)
7g.117611670_117611671delCA327105CFTRc.3229_3230del (p.Leu1077ValfsTer?)
c.*2943_*2944del (n.*2943_*2944del)
c.3046_3047del (p.Leu1016ValfsTer?)
c.*1529_*1530del (n.*1529_*1530del)
c.*3053_*3054del (n.*3053_*3054del)
c.2803_2804del (p.Leu935ValfsTer?)
c.820_821del (p.Leu274ValfsTer?)
c.879_880del
c.2011_2012del (p.Leu671ValfsTer?)
c.3139_3140del (p.Leu1047ValfsTer?)
c.54_55del
c.3319_3320del (p.Leu1107ValfsTer?)
c.2986_2987del (p.Leu996ValfsTer?)
 ClinVar dbSNP
7g.117611669T>ACA457230026CFTRc.3228T>A (p.Thr1076=)
c.*2942T>A (n.*2942T>A)
c.3045T>A (p.Thr1015=)
c.*1528T>A (n.*1528T>A)
c.*3052T>A (n.*3052T>A)
c.2802T>A (p.Thr934=)
c.819T>A (p.Thr273=)
c.878T>A
c.2010T>A (p.Thr670=)
c.3138T>A (p.Thr1046=)
c.53T>A
c.3318T>A (p.Thr1106=)
c.2985T>A (p.Thr995=)
7g.117611669T>CCA457230027CFTRc.3228T>C (p.Thr1076=)
c.*2942T>C (n.*2942T>C)
c.3045T>C (p.Thr1015=)
c.*1528T>C (n.*1528T>C)
c.*3052T>C (n.*3052T>C)
c.2802T>C (p.Thr934=)
c.819T>C (p.Thr273=)
c.878T>C
c.2010T>C (p.Thr670=)
c.3138T>C (p.Thr1046=)
c.53T>C
c.3318T>C (p.Thr1106=)
c.2985T>C (p.Thr995=)
7g.117611669T>GCA457230028CFTRc.3228T>G (p.Thr1076=)
c.*2942T>G (n.*2942T>G)
c.3045T>G (p.Thr1015=)
c.*1528T>G (n.*1528T>G)
c.*3052T>G (n.*3052T>G)
c.2802T>G (p.Thr934=)
c.819T>G (p.Thr273=)
c.878T>G
c.2010T>G (p.Thr670=)
c.3138T>G (p.Thr1046=)
c.53T>G
c.3318T>G (p.Thr1106=)
c.2985T>G (p.Thr995=)
7g.117611671_117611675delCA2695208435CFTRc.3230_3234del (p.Leu1077ProfsTer?)
c.*2944_*2948del (n.*2944_*2948del)
c.3047_3051del (p.Leu1016ProfsTer?)
c.*1530_*1534del (n.*1530_*1534del)
c.*3054_*3058del (n.*3054_*3058del)
c.2804_2808del (p.Leu935ProfsTer?)
c.821_825del (p.Leu274ProfsTer?)
c.880_884del
c.2012_2016del (p.Leu671ProfsTer?)
c.3140_3144del (p.Leu1047ProfsTer?)
c.55_59del
c.3320_3324del (p.Leu1107ProfsTer?)
c.2987_2991del (p.Leu996ProfsTer?)
7g.117611670C>ACA368992172CFTRc.3229C>A (p.Leu1077Met)
c.*2943C>A (n.*2943C>A)
c.3046C>A (p.Leu1016Met)
c.*1529C>A (n.*1529C>A)
c.*3053C>A (n.*3053C>A)
c.2803C>A (p.Leu935Met)
c.820C>A (p.Leu274Met)
c.879C>A
c.2011C>A (p.Leu671Met)
c.3139C>A (p.Leu1047Met)
c.54C>A
c.3319C>A (p.Leu1107Met)
c.2986C>A (p.Leu996Met)
7g.117611670C=CA1737387098CFTRc.3229C= (p.Leu1077=)
c.*2943C= (n.*2943C=)
c.3046C= (p.Leu1016=)
c.*1529C= (n.*1529C=)
c.*3053C= (n.*3053C=)
c.2803C= (p.Leu935=)
c.820C= (p.Leu274=)
c.879C=
c.2011C= (p.Leu671=)
c.3139C= (p.Leu1047=)
c.54C=
c.3319C= (p.Leu1107=)
c.2986C= (p.Leu996=)
7g.117611670C>GCA368992174CFTRc.3229C>G (p.Leu1077Val)
c.*2943C>G (n.*2943C>G)
c.3046C>G (p.Leu1016Val)
c.*1529C>G (n.*1529C>G)
c.*3053C>G (n.*3053C>G)
c.2803C>G (p.Leu935Val)
c.820C>G (p.Leu274Val)
c.879C>G
c.2011C>G (p.Leu671Val)
c.3139C>G (p.Leu1047Val)
c.54C>G
c.3319C>G (p.Leu1107Val)
c.2986C>G (p.Leu996Val)
 dbSNP
7g.117611670C>TCA457230029CFTRc.3229C>T (p.Leu1077=)
c.*2943C>T (n.*2943C>T)
c.3046C>T (p.Leu1016=)
c.*1529C>T (n.*1529C>T)
c.*3053C>T (n.*3053C>T)
c.2803C>T (p.Leu935=)
c.820C>T (p.Leu274=)
c.879C>T
c.2011C>T (p.Leu671=)
c.3139C>T (p.Leu1047=)
c.54C>T
c.3319C>T (p.Leu1107=)
c.2986C>T (p.Leu996=)
 dbSNP COSMIC
7g.117611670_117611672delinsCTGCA1737387099CFTRc.3229_3231delinsCTG (p.Leu1077=)
c.*2943_*2945delinsCTG (n.*2943_*2945delinsCTG)
c.3046_3048delinsCTG (p.Leu1016=)
c.*1529_*1531delinsCTG (n.*1529_*1531delinsCTG)
c.*3053_*3055delinsCTG (n.*3053_*3055delinsCTG)
c.2803_2805delinsCTG (p.Leu935=)
c.820_822delinsCTG (p.Leu274=)
c.879_881delinsCTG
c.2011_2013delinsCTG (p.Leu671=)
c.3139_3141delinsCTG (p.Leu1047=)
c.54_56delinsCTG
c.3319_3321delinsCTG (p.Leu1107=)
c.2986_2988delinsCTG (p.Leu996=)
7g.117611671T>ACA368992176CFTRc.3230T>A (p.Leu1077Gln)
c.*2944T>A (n.*2944T>A)
c.3047T>A (p.Leu1016Gln)
c.*1530T>A (n.*1530T>A)
c.*3054T>A (n.*3054T>A)
c.2804T>A (p.Leu935Gln)
c.821T>A (p.Leu274Gln)
c.880T>A
c.2012T>A (p.Leu671Gln)
c.3140T>A (p.Leu1047Gln)
c.55T>A
c.3320T>A (p.Leu1107Gln)
c.2987T>A (p.Leu996Gln)
7g.117611671T>CCA328111CFTRc.3230T>C (p.Leu1077Pro)
c.*2944T>C (n.*2944T>C)
c.3047T>C (p.Leu1016Pro)
c.*1530T>C (n.*1530T>C)
c.*3054T>C (n.*3054T>C)
c.2804T>C (p.Leu935Pro)
c.821T>C (p.Leu274Pro)
c.880T>C
c.2012T>C (p.Leu671Pro)
c.3140T>C (p.Leu1047Pro)
c.55T>C
c.3320T>C (p.Leu1107Pro)
c.2987T>C (p.Leu996Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611671T>GCA368992179CFTRc.3230T>G (p.Leu1077Arg)
c.*2944T>G (n.*2944T>G)
c.3047T>G (p.Leu1016Arg)
c.*1530T>G (n.*1530T>G)
c.*3054T>G (n.*3054T>G)
c.2804T>G (p.Leu935Arg)
c.821T>G (p.Leu274Arg)
c.880T>G
c.2012T>G (p.Leu671Arg)
c.3140T>G (p.Leu1047Arg)
c.55T>G
c.3320T>G (p.Leu1107Arg)
c.2987T>G (p.Leu996Arg)
7g.117611671T=CA1737387109CFTRc.3230T= (p.Leu1077=)
c.*2944T= (n.*2944T=)
c.3047T= (p.Leu1016=)
c.*1530T= (n.*1530T=)
c.*3054T= (n.*3054T=)
c.2804T= (p.Leu935=)
c.821T= (p.Leu274=)
c.880T=
c.2012T= (p.Leu671=)
c.3140T= (p.Leu1047=)
c.55T=
c.3320T= (p.Leu1107=)
c.2987T= (p.Leu996=)
7g.117611672_117611673delCA4451410CFTRc.3231_3232del (p.Phe1078ProfsTer?)
c.*2945_*2946del (n.*2945_*2946del)
c.3048_3049del (p.Phe1017ProfsTer?)
c.*1531_*1532del (n.*1531_*1532del)
c.*3055_*3056del (n.*3055_*3056del)
c.2805_2806del (p.Phe936ProfsTer?)
c.822_823del (p.Phe275ProfsTer?)
c.881_882del
c.2013_2014del (p.Phe672ProfsTer?)
c.3141_3142del (p.Phe1048ProfsTer?)
c.56_57del
c.3321_3322del (p.Phe1108ProfsTer?)
c.2988_2989del (p.Phe997ProfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117611672G>ACA457230030CFTRc.3231G>A (p.Leu1077=)
c.*2945G>A (n.*2945G>A)
c.3048G>A (p.Leu1016=)
c.*1531G>A (n.*1531G>A)
c.*3055G>A (n.*3055G>A)
c.2805G>A (p.Leu935=)
c.822G>A (p.Leu274=)
c.881G>A
c.2013G>A (p.Leu671=)
c.3141G>A (p.Leu1047=)
c.56G>A
c.3321G>A (p.Leu1107=)
c.2988G>A (p.Leu996=)
7g.117611672G>CCA457230031CFTRc.3231G>C (p.Leu1077=)
c.*2945G>C (n.*2945G>C)
c.3048G>C (p.Leu1016=)
c.*1531G>C (n.*1531G>C)
c.*3055G>C (n.*3055G>C)
c.2805G>C (p.Leu935=)
c.822G>C (p.Leu274=)
c.881G>C
c.2013G>C (p.Leu671=)
c.3141G>C (p.Leu1047=)
c.56G>C
c.3321G>C (p.Leu1107=)
c.2988G>C (p.Leu996=)
7g.117611672G>TCA457230032CFTRc.3231G>T (p.Leu1077=)
c.*2945G>T (n.*2945G>T)
c.3048G>T (p.Leu1016=)
c.*1531G>T (n.*1531G>T)
c.*3055G>T (n.*3055G>T)
c.2805G>T (p.Leu935=)
c.822G>T (p.Leu274=)
c.881G>T
c.2013G>T (p.Leu671=)
c.3141G>T (p.Leu1047=)
c.56G>T
c.3321G>T (p.Leu1107=)
c.2988G>T (p.Leu996=)
7g.117611673T>ACA368992185CFTRc.3232T>A (p.Phe1078Ile)
c.*2946T>A (n.*2946T>A)
c.3049T>A (p.Phe1017Ile)
c.*1532T>A (n.*1532T>A)
c.*3056T>A (n.*3056T>A)
c.2806T>A (p.Phe936Ile)
c.823T>A (p.Phe275Ile)
c.882T>A
c.2014T>A (p.Phe672Ile)
c.3142T>A (p.Phe1048Ile)
c.57T>A
c.3322T>A (p.Phe1108Ile)
c.2989T>A (p.Phe997Ile)
7g.117611673T>CCA368992182CFTRc.3232T>C (p.Phe1078Leu)
c.*2946T>C (n.*2946T>C)
c.3049T>C (p.Phe1017Leu)
c.*1532T>C (n.*1532T>C)
c.*3056T>C (n.*3056T>C)
c.2806T>C (p.Phe936Leu)
c.823T>C (p.Phe275Leu)
c.882T>C
c.2014T>C (p.Phe672Leu)
c.3142T>C (p.Phe1048Leu)
c.57T>C
c.3322T>C (p.Phe1108Leu)
c.2989T>C (p.Phe997Leu)
7g.117611673T>GCA368992184CFTRc.3232T>G (p.Phe1078Val)
c.*2946T>G (n.*2946T>G)
c.3049T>G (p.Phe1017Val)
c.*1532T>G (n.*1532T>G)
c.*3056T>G (n.*3056T>G)
c.2806T>G (p.Phe936Val)
c.823T>G (p.Phe275Val)
c.882T>G
c.2014T>G (p.Phe672Val)
c.3142T>G (p.Phe1048Val)
c.57T>G
c.3322T>G (p.Phe1108Val)
c.2989T>G (p.Phe997Val)
7g.117611674T>ACA368992188CFTRc.3233T>A (p.Phe1078Tyr)
c.*2947T>A (n.*2947T>A)
c.3050T>A (p.Phe1017Tyr)
c.*1533T>A (n.*1533T>A)
c.*3057T>A (n.*3057T>A)
c.2807T>A (p.Phe936Tyr)
c.824T>A (p.Phe275Tyr)
c.883T>A
c.2015T>A (p.Phe672Tyr)
c.3143T>A (p.Phe1048Tyr)
c.58T>A
c.3323T>A (p.Phe1108Tyr)
c.2990T>A (p.Phe997Tyr)
7g.117611674T>CCA368992189CFTRc.3233T>C (p.Phe1078Ser)
c.*2947T>C (n.*2947T>C)
c.3050T>C (p.Phe1017Ser)
c.*1533T>C (n.*1533T>C)
c.*3057T>C (n.*3057T>C)
c.2807T>C (p.Phe936Ser)
c.824T>C (p.Phe275Ser)
c.883T>C
c.2015T>C (p.Phe672Ser)
c.3143T>C (p.Phe1048Ser)
c.58T>C
c.3323T>C (p.Phe1108Ser)
c.2990T>C (p.Phe997Ser)
7g.117611674T>GCA368992190CFTRc.3233T>G (p.Phe1078Cys)
c.*2947T>G (n.*2947T>G)
c.3050T>G (p.Phe1017Cys)
c.*1533T>G (n.*1533T>G)
c.*3057T>G (n.*3057T>G)
c.2807T>G (p.Phe936Cys)
c.824T>G (p.Phe275Cys)
c.883T>G
c.2015T>G (p.Phe672Cys)
c.3143T>G (p.Phe1048Cys)
c.58T>G
c.3323T>G (p.Phe1108Cys)
c.2990T>G (p.Phe997Cys)
7g.117611675C>ACA368992192CFTRc.3234C>A (p.Phe1078Leu)
c.*2948C>A (n.*2948C>A)
c.3051C>A (p.Phe1017Leu)
c.*1534C>A (n.*1534C>A)
c.*3058C>A (n.*3058C>A)
c.2808C>A (p.Phe936Leu)
c.825C>A (p.Phe275Leu)
c.884C>A
c.2016C>A (p.Phe672Leu)
c.3144C>A (p.Phe1048Leu)
c.59C>A
c.3324C>A (p.Phe1108Leu)
c.2991C>A (p.Phe997Leu)
7g.117611675C>GCA368992194CFTRc.3234C>G (p.Phe1078Leu)
c.*2948C>G (n.*2948C>G)
c.3051C>G (p.Phe1017Leu)
c.*1534C>G (n.*1534C>G)
c.*3058C>G (n.*3058C>G)
c.2808C>G (p.Phe936Leu)
c.825C>G (p.Phe275Leu)
c.884C>G
c.2016C>G (p.Phe672Leu)
c.3144C>G (p.Phe1048Leu)
c.59C>G
c.3324C>G (p.Phe1108Leu)
c.2991C>G (p.Phe997Leu)
7g.117611675C>TCA457230033CFTRc.3234C>T (p.Phe1078=)
c.*2948C>T (n.*2948C>T)
c.3051C>T (p.Phe1017=)
c.*1534C>T (n.*1534C>T)
c.*3058C>T (n.*3058C>T)
c.2808C>T (p.Phe936=)
c.825C>T (p.Phe275=)
c.884C>T
c.2016C>T (p.Phe672=)
c.3144C>T (p.Phe1048=)
c.59C>T
c.3324C>T (p.Phe1108=)
c.2991C>T (p.Phe997=)
 gnomAD v4
7g.117611676C>ACA368992196CFTRc.3235C>A (p.His1079Asn)
c.*2949C>A (n.*2949C>A)
c.3052C>A (p.His1018Asn)
c.*1535C>A (n.*1535C>A)
c.*3059C>A (n.*3059C>A)
c.2809C>A (p.His937Asn)
c.826C>A (p.His276Asn)
c.885C>A
c.2017C>A (p.His673Asn)
c.3145C>A (p.His1049Asn)
c.60C>A
c.3325C>A (p.His1109Asn)
c.2992C>A (p.His998Asn)
7g.117611676C>GCA368992197CFTRc.3235C>G (p.His1079Asp)
c.*2949C>G (n.*2949C>G)
c.3052C>G (p.His1018Asp)
c.*1535C>G (n.*1535C>G)
c.*3059C>G (n.*3059C>G)
c.2809C>G (p.His937Asp)
c.826C>G (p.His276Asp)
c.885C>G
c.2017C>G (p.His673Asp)
c.3145C>G (p.His1049Asp)
c.60C>G
c.3325C>G (p.His1109Asp)
c.2992C>G (p.His998Asp)
7g.117611676C>TCA368992199CFTRc.3235C>T (p.His1079Tyr)
c.*2949C>T (n.*2949C>T)
c.3052C>T (p.His1018Tyr)
c.*1535C>T (n.*1535C>T)
c.*3059C>T (n.*3059C>T)
c.2809C>T (p.His937Tyr)
c.826C>T (p.His276Tyr)
c.885C>T
c.2017C>T (p.His673Tyr)
c.3145C>T (p.His1049Tyr)
c.60C>T
c.3325C>T (p.His1109Tyr)
c.2992C>T (p.His998Tyr)
 ClinVar
7g.117611677A=CA1737387113CFTRc.3236A= (p.His1079=)
c.*2950A= (n.*2950A=)
c.3053A= (p.His1018=)
c.*1536A= (n.*1536A=)
c.*3060A= (n.*3060A=)
c.2810A= (p.His937=)
c.827A= (p.His276=)
c.886A=
c.2018A= (p.His673=)
c.3146A= (p.His1049=)
c.61A=
c.3326A= (p.His1109=)
c.2993A= (p.His998=)
7g.117611677A>CCA327106CFTRc.3236A>C (p.His1079Pro)
c.*2950A>C (n.*2950A>C)
c.3053A>C (p.His1018Pro)
c.*1536A>C (n.*1536A>C)
c.*3060A>C (n.*3060A>C)
c.2810A>C (p.His937Pro)
c.827A>C (p.His276Pro)
c.886A>C
c.2018A>C (p.His673Pro)
c.3146A>C (p.His1049Pro)
c.61A>C
c.3326A>C (p.His1109Pro)
c.2993A>C (p.His998Pro)
 dbSNP
7g.117611677A>GCA368992202CFTRc.3236A>G (p.His1079Arg)
c.*2950A>G (n.*2950A>G)
c.3053A>G (p.His1018Arg)
c.*1536A>G (n.*1536A>G)
c.*3060A>G (n.*3060A>G)
c.2810A>G (p.His937Arg)
c.827A>G (p.His276Arg)
c.886A>G
c.2018A>G (p.His673Arg)
c.3146A>G (p.His1049Arg)
c.61A>G
c.3326A>G (p.His1109Arg)
c.2993A>G (p.His998Arg)
 dbSNP gnomAD v3 gnomAD v4
7g.117611677A>TCA368992204CFTRc.3236A>T (p.His1079Leu)
c.*2950A>T (n.*2950A>T)
c.3053A>T (p.His1018Leu)
c.*1536A>T (n.*1536A>T)
c.*3060A>T (n.*3060A>T)
c.2810A>T (p.His937Leu)
c.827A>T (p.His276Leu)
c.886A>T
c.2018A>T (p.His673Leu)
c.3146A>T (p.His1049Leu)
c.61A>T
c.3326A>T (p.His1109Leu)
c.2993A>T (p.His998Leu)
7g.117611678C>ACA368992208CFTRc.3237C>A (p.His1079Gln)
c.*2951C>A (n.*2951C>A)
c.3054C>A (p.His1018Gln)
c.*1537C>A (n.*1537C>A)
c.*3061C>A (n.*3061C>A)
c.2811C>A (p.His937Gln)
c.828C>A (p.His276Gln)
c.887C>A
c.2019C>A (p.His673Gln)
c.3147C>A (p.His1049Gln)
c.62C>A
c.3327C>A (p.His1109Gln)
c.2994C>A (p.His998Gln)
7g.117611678C>GCA368992206CFTRc.3237C>G (p.His1079Gln)
c.*2951C>G (n.*2951C>G)
c.3054C>G (p.His1018Gln)
c.*1537C>G (n.*1537C>G)
c.*3061C>G (n.*3061C>G)
c.2811C>G (p.His937Gln)
c.828C>G (p.His276Gln)
c.887C>G
c.2019C>G (p.His673Gln)
c.3147C>G (p.His1049Gln)
c.62C>G
c.3327C>G (p.His1109Gln)
c.2994C>G (p.His998Gln)
7g.117611678C>TCA457230034CFTRc.3237C>T (p.His1079=)
c.*2951C>T (n.*2951C>T)
c.3054C>T (p.His1018=)
c.*1537C>T (n.*1537C>T)
c.*3061C>T (n.*3061C>T)
c.2811C>T (p.His937=)
c.828C>T (p.His276=)
c.887C>T
c.2019C>T (p.His673=)
c.3147C>T (p.His1049=)
c.62C>T
c.3327C>T (p.His1109=)
c.2994C>T (p.His998=)
 ClinVar dbSNP
7g.117611679A=CA1737387116CFTRc.3238A= (p.Lys1080=)
c.*2952A= (n.*2952A=)
c.3055A= (p.Lys1019=)
c.*1538A= (n.*1538A=)
c.*3062A= (n.*3062A=)
c.2812A= (p.Lys938=)
c.829A= (p.Lys277=)
c.888A=
c.2020A= (p.Lys674=)
c.3148A= (p.Lys1050=)
c.63A=
c.3328A= (p.Lys1110=)
c.2995A= (p.Lys999=)
7g.117611679A>CCA4451411CFTRc.3238A>C (p.Lys1080Gln)
c.*2952A>C (n.*2952A>C)
c.3055A>C (p.Lys1019Gln)
c.*1538A>C (n.*1538A>C)
c.*3062A>C (n.*3062A>C)
c.2812A>C (p.Lys938Gln)
c.829A>C (p.Lys277Gln)
c.888A>C
c.2020A>C (p.Lys674Gln)
c.3148A>C (p.Lys1050Gln)
c.63A>C
c.3328A>C (p.Lys1110Gln)
c.2995A>C (p.Lys999Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611679A>GCA368992210CFTRc.3238A>G (p.Lys1080Glu)
c.*2952A>G (n.*2952A>G)
c.3055A>G (p.Lys1019Glu)
c.*1538A>G (n.*1538A>G)
c.*3062A>G (n.*3062A>G)
c.2812A>G (p.Lys938Glu)
c.829A>G (p.Lys277Glu)
c.888A>G
c.2020A>G (p.Lys674Glu)
c.3148A>G (p.Lys1050Glu)
c.63A>G
c.3328A>G (p.Lys1110Glu)
c.2995A>G (p.Lys999Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117611679A>TCA368992212CFTRc.3238A>T (p.Lys1080Ter)
c.*2952A>T (n.*2952A>T)
c.3055A>T (p.Lys1019Ter)
c.*1538A>T (n.*1538A>T)
c.*3062A>T (n.*3062A>T)
c.2812A>T (p.Lys938Ter)
c.829A>T (p.Lys277Ter)
c.888A>T
c.2020A>T (p.Lys674Ter)
c.3148A>T (p.Lys1050Ter)
c.63A>T
c.3328A>T (p.Lys1110Ter)
c.2995A>T (p.Lys999Ter)
7g.117611681dupCA2695208436CFTRc.3240dup (p.Ala1081SerfsTer?)
c.*2954dup (n.*2954dup)
c.3057dup (p.Ala1020SerfsTer?)
c.*1540dup (n.*1540dup)
c.*3064dup (n.*3064dup)
c.2814dup (p.Ala939SerfsTer?)
c.831dup (p.Ala278SerfsTer?)
c.890dup
c.2022dup (p.Ala675SerfsTer?)
c.3150dup (p.Ala1051SerfsTer?)
c.65dup
c.3330dup (p.Ala1111SerfsTer?)
c.2997dup (p.Ala1000SerfsTer?)
7g.117611680A=CA1737387121CFTRc.3239A= (p.Lys1080=)
c.*2953A= (n.*2953A=)
c.3056A= (p.Lys1019=)
c.*1539A= (n.*1539A=)
c.*3063A= (n.*3063A=)
c.2813A= (p.Lys938=)
c.830A= (p.Lys277=)
c.889A=
c.2021A= (p.Lys674=)
c.3149A= (p.Lys1050=)
c.64A=
c.3329A= (p.Lys1110=)
c.2996A= (p.Lys999=)
7g.117611680A>CCA368992214CFTRc.3239A>C (p.Lys1080Thr)
c.*2953A>C (n.*2953A>C)
c.3056A>C (p.Lys1019Thr)
c.*1539A>C (n.*1539A>C)
c.*3063A>C (n.*3063A>C)
c.2813A>C (p.Lys938Thr)
c.830A>C (p.Lys277Thr)
c.889A>C
c.2021A>C (p.Lys674Thr)
c.3149A>C (p.Lys1050Thr)
c.64A>C
c.3329A>C (p.Lys1110Thr)
c.2996A>C (p.Lys999Thr)
7g.117611680A>GCA4451412CFTRc.3239A>G (p.Lys1080Arg)
c.*2953A>G (n.*2953A>G)
c.3056A>G (p.Lys1019Arg)
c.*1539A>G (n.*1539A>G)
c.*3063A>G (n.*3063A>G)
c.2813A>G (p.Lys938Arg)
c.830A>G (p.Lys277Arg)
c.889A>G
c.2021A>G (p.Lys674Arg)
c.3149A>G (p.Lys1050Arg)
c.64A>G
c.3329A>G (p.Lys1110Arg)
c.2996A>G (p.Lys999Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611680A>TCA368992216CFTRc.3239A>T (p.Lys1080Ile)
c.*2953A>T (n.*2953A>T)
c.3056A>T (p.Lys1019Ile)
c.*1539A>T (n.*1539A>T)
c.*3063A>T (n.*3063A>T)
c.2813A>T (p.Lys938Ile)
c.830A>T (p.Lys277Ile)
c.889A>T
c.2021A>T (p.Lys674Ile)
c.3149A>T (p.Lys1050Ile)
c.64A>T
c.3329A>T (p.Lys1110Ile)
c.2996A>T (p.Lys999Ile)
7g.117611681A>CCA368992217CFTRc.3240A>C (p.Lys1080Asn)
c.*2954A>C (n.*2954A>C)
c.3057A>C (p.Lys1019Asn)
c.*1540A>C (n.*1540A>C)
c.*3064A>C (n.*3064A>C)
c.2814A>C (p.Lys938Asn)
c.831A>C (p.Lys277Asn)
c.890A>C
c.2022A>C (p.Lys674Asn)
c.3150A>C (p.Lys1050Asn)
c.65A>C
c.3330A>C (p.Lys1110Asn)
c.2997A>C (p.Lys999Asn)
 gnomAD v4
7g.117611681A>GCA457230035CFTRc.3240A>G (p.Lys1080=)
c.*2954A>G (n.*2954A>G)
c.3057A>G (p.Lys1019=)
c.*1540A>G (n.*1540A>G)
c.*3064A>G (n.*3064A>G)
c.2814A>G (p.Lys938=)
c.831A>G (p.Lys277=)
c.890A>G
c.2022A>G (p.Lys674=)
c.3150A>G (p.Lys1050=)
c.65A>G
c.3330A>G (p.Lys1110=)
c.2997A>G (p.Lys999=)
7g.117611681A>TCA368992218CFTRc.3240A>T (p.Lys1080Asn)
c.*2954A>T (n.*2954A>T)
c.3057A>T (p.Lys1019Asn)
c.*1540A>T (n.*1540A>T)
c.*3064A>T (n.*3064A>T)
c.2814A>T (p.Lys938Asn)
c.831A>T (p.Lys277Asn)
c.890A>T
c.2022A>T (p.Lys674Asn)
c.3150A>T (p.Lys1050Asn)
c.65A>T
c.3330A>T (p.Lys1110Asn)
c.2997A>T (p.Lys999Asn)
7g.117611682delCA2580610970CFTRc.3241del (p.Ala1081LeufsTer2)
c.*2955del (n.*2955del)
c.3058del (p.Ala1020LeufsTer2)
c.*1541del (n.*1541del)
c.*3065del (n.*3065del)
c.2815del (p.Ala939LeufsTer2)
c.832del (p.Ala278LeufsTer2)
c.891del
c.2023del (p.Ala675LeufsTer2)
c.3151del (p.Ala1051LeufsTer2)
c.66del
c.3331del (p.Ala1111LeufsTer2)
c.2998del (p.Ala1000LeufsTer2)
7g.117611682G>ACA368992220CFTRc.3241G>A (p.Ala1081Thr)
c.*2955G>A (n.*2955G>A)
c.3058G>A (p.Ala1020Thr)
c.*1541G>A (n.*1541G>A)
c.*3065G>A (n.*3065G>A)
c.2815G>A (p.Ala939Thr)
c.832G>A (p.Ala278Thr)
c.891G>A
c.2023G>A (p.Ala675Thr)
c.3151G>A (p.Ala1051Thr)
c.66G>A
c.3331G>A (p.Ala1111Thr)
c.2998G>A (p.Ala1000Thr)
7g.117611682G>CCA327110CFTRc.3241G>C (p.Ala1081Pro)
c.*2955G>C (n.*2955G>C)
c.3058G>C (p.Ala1020Pro)
c.*1541G>C (n.*1541G>C)
c.*3065G>C (n.*3065G>C)
c.2815G>C (p.Ala939Pro)
c.832G>C (p.Ala278Pro)
c.891G>C
c.2023G>C (p.Ala675Pro)
c.3151G>C (p.Ala1051Pro)
c.66G>C
c.3331G>C (p.Ala1111Pro)
c.2998G>C (p.Ala1000Pro)
 ClinVar dbSNP
7g.117611682G=CA1737387130CFTRc.3241G= (p.Ala1081=)
c.*2955G= (n.*2955G=)
c.3058G= (p.Ala1020=)
c.*1541G= (n.*1541G=)
c.*3065G= (n.*3065G=)
c.2815G= (p.Ala939=)
c.832G= (p.Ala278=)
c.891G=
c.2023G= (p.Ala675=)
c.3151G= (p.Ala1051=)
c.66G=
c.3331G= (p.Ala1111=)
c.2998G= (p.Ala1000=)
7g.117611682G>TCA368992222CFTRc.3241G>T (p.Ala1081Ser)
c.*2955G>T (n.*2955G>T)
c.3058G>T (p.Ala1020Ser)
c.*1541G>T (n.*1541G>T)
c.*3065G>T (n.*3065G>T)
c.2815G>T (p.Ala939Ser)
c.832G>T (p.Ala278Ser)
c.891G>T
c.2023G>T (p.Ala675Ser)
c.3151G>T (p.Ala1051Ser)
c.66G>T
c.3331G>T (p.Ala1111Ser)
c.2998G>T (p.Ala1000Ser)
7g.117611683C>ACA368992224CFTRc.3242C>A (p.Ala1081Asp)
c.*2956C>A (n.*2956C>A)
c.3059C>A (p.Ala1020Asp)
c.*1542C>A (n.*1542C>A)
c.*3066C>A (n.*3066C>A)
c.2816C>A (p.Ala939Asp)
c.833C>A (p.Ala278Asp)
c.892C>A
c.2024C>A (p.Ala675Asp)
c.3152C>A (p.Ala1051Asp)
c.67C>A
c.3332C>A (p.Ala1111Asp)
c.2999C>A (p.Ala1000Asp)
7g.117611683C=CA1737387139CFTRc.3242C= (p.Ala1081=)
c.*2956C= (n.*2956C=)
c.3059C= (p.Ala1020=)
c.*1542C= (n.*1542C=)
c.*3066C= (n.*3066C=)
c.2816C= (p.Ala939=)
c.833C= (p.Ala278=)
c.892C=
c.2024C= (p.Ala675=)
c.3152C= (p.Ala1051=)
c.67C=
c.3332C= (p.Ala1111=)
c.2999C= (p.Ala1000=)
7g.117611683C>GCA368992226CFTRc.3242C>G (p.Ala1081Gly)
c.*2956C>G (n.*2956C>G)
c.3059C>G (p.Ala1020Gly)
c.*1542C>G (n.*1542C>G)
c.*3066C>G (n.*3066C>G)
c.2816C>G (p.Ala939Gly)
c.833C>G (p.Ala278Gly)
c.892C>G
c.2024C>G (p.Ala675Gly)
c.3152C>G (p.Ala1051Gly)
c.67C>G
c.3332C>G (p.Ala1111Gly)
c.2999C>G (p.Ala1000Gly)
 dbSNP gnomAD v2 gnomAD v4
7g.117611683C>TCA368992228CFTRc.3242C>T (p.Ala1081Val)
c.*2956C>T (n.*2956C>T)
c.3059C>T (p.Ala1020Val)
c.*1542C>T (n.*1542C>T)
c.*3066C>T (n.*3066C>T)
c.2816C>T (p.Ala939Val)
c.833C>T (p.Ala278Val)
c.892C>T
c.2024C>T (p.Ala675Val)
c.3152C>T (p.Ala1051Val)
c.67C>T
c.3332C>T (p.Ala1111Val)
c.2999C>T (p.Ala1000Val)
 dbSNP gnomAD v3 gnomAD v4
7g.117611684T>ACA457230036CFTRc.3243T>A (p.Ala1081=)
c.*2957T>A (n.*2957T>A)
c.3060T>A (p.Ala1020=)
c.*1543T>A (n.*1543T>A)
c.*3067T>A (n.*3067T>A)
c.2817T>A (p.Ala939=)
c.834T>A (p.Ala278=)
c.893T>A
c.2025T>A (p.Ala675=)
c.3153T>A (p.Ala1051=)
c.68T>A
c.3333T>A (p.Ala1111=)
c.3000T>A (p.Ala1000=)
7g.117611684T>CCA457230037CFTRc.3243T>C (p.Ala1081=)
c.*2957T>C (n.*2957T>C)
c.3060T>C (p.Ala1020=)
c.*1543T>C (n.*1543T>C)
c.*3067T>C (n.*3067T>C)
c.2817T>C (p.Ala939=)
c.834T>C (p.Ala278=)
c.893T>C
c.2025T>C (p.Ala675=)
c.3153T>C (p.Ala1051=)
c.68T>C
c.3333T>C (p.Ala1111=)
c.3000T>C (p.Ala1000=)
7g.117611684T>GCA457230038CFTRc.3243T>G (p.Ala1081=)
c.*2957T>G (n.*2957T>G)
c.3060T>G (p.Ala1020=)
c.*1543T>G (n.*1543T>G)
c.*3067T>G (n.*3067T>G)
c.2817T>G (p.Ala939=)
c.834T>G (p.Ala278=)
c.893T>G
c.2025T>G (p.Ala675=)
c.3153T>G (p.Ala1051=)
c.68T>G
c.3333T>G (p.Ala1111=)
c.3000T>G (p.Ala1000=)
7g.117611685C>ACA368992230CFTRc.3244C>A (p.Leu1082Met)
c.*2958C>A (n.*2958C>A)
c.3061C>A (p.Leu1021Met)
c.*1544C>A (n.*1544C>A)
c.*3068C>A (n.*3068C>A)
c.2818C>A (p.Leu940Met)
c.835C>A (p.Leu279Met)
c.894C>A
c.2026C>A (p.Leu676Met)
c.3154C>A (p.Leu1052Met)
c.69C>A
c.3334C>A (p.Leu1112Met)
c.3001C>A (p.Leu1001Met)
7g.117611685C>GCA368992232CFTRc.3244C>G (p.Leu1082Val)
c.*2958C>G (n.*2958C>G)
c.3061C>G (p.Leu1021Val)
c.*1544C>G (n.*1544C>G)
c.*3068C>G (n.*3068C>G)
c.2818C>G (p.Leu940Val)
c.835C>G (p.Leu279Val)
c.894C>G
c.2026C>G (p.Leu676Val)
c.3154C>G (p.Leu1052Val)
c.69C>G
c.3334C>G (p.Leu1112Val)
c.3001C>G (p.Leu1001Val)
7g.117611685C>TCA457230039CFTRc.3244C>T (p.Leu1082=)
c.*2958C>T (n.*2958C>T)
c.3061C>T (p.Leu1021=)
c.*1544C>T (n.*1544C>T)
c.*3068C>T (n.*3068C>T)
c.2818C>T (p.Leu940=)
c.835C>T (p.Leu279=)
c.894C>T
c.2026C>T (p.Leu676=)
c.3154C>T (p.Leu1052=)
c.69C>T
c.3334C>T (p.Leu1112=)
c.3001C>T (p.Leu1001=)
7g.117611686T>ACA368992233CFTRc.3245T>A (p.Leu1082Gln)
c.*2959T>A (n.*2959T>A)
c.3062T>A (p.Leu1021Gln)
c.*1545T>A (n.*1545T>A)
c.*3069T>A (n.*3069T>A)
c.2819T>A (p.Leu940Gln)
c.836T>A (p.Leu279Gln)
c.895T>A
c.2027T>A (p.Leu676Gln)
c.3155T>A (p.Leu1052Gln)
c.70T>A
c.3335T>A (p.Leu1112Gln)
c.3002T>A (p.Leu1001Gln)
7g.117611686T>CCA368992235CFTRc.3245T>C (p.Leu1082Pro)
c.*2959T>C (n.*2959T>C)
c.3062T>C (p.Leu1021Pro)
c.*1545T>C (n.*1545T>C)
c.*3069T>C (n.*3069T>C)
c.2819T>C (p.Leu940Pro)
c.836T>C (p.Leu279Pro)
c.895T>C
c.2027T>C (p.Leu676Pro)
c.3155T>C (p.Leu1052Pro)
c.70T>C
c.3335T>C (p.Leu1112Pro)
c.3002T>C (p.Leu1001Pro)
 gnomAD v4
7g.117611686T>GCA368992237CFTRc.3245T>G (p.Leu1082Arg)
c.*2959T>G (n.*2959T>G)
c.3062T>G (p.Leu1021Arg)
c.*1545T>G (n.*1545T>G)
c.*3069T>G (n.*3069T>G)
c.2819T>G (p.Leu940Arg)
c.836T>G (p.Leu279Arg)
c.895T>G
c.2027T>G (p.Leu676Arg)
c.3155T>G (p.Leu1052Arg)
c.70T>G
c.3335T>G (p.Leu1112Arg)
c.3002T>G (p.Leu1001Arg)
7g.117611687G>ACA457230040CFTRc.3246G>A (p.Leu1082=)
c.*2960G>A (n.*2960G>A)
c.3063G>A (p.Leu1021=)
c.*1546G>A (n.*1546G>A)
c.*3070G>A (n.*3070G>A)
c.2820G>A (p.Leu940=)
c.837G>A (p.Leu279=)
c.896G>A
c.2028G>A (p.Leu676=)
c.3156G>A (p.Leu1052=)
c.71G>A
c.3336G>A (p.Leu1112=)
c.3003G>A (p.Leu1001=)
7g.117611687G>CCA457230041CFTRc.3246G>C (p.Leu1082=)
c.*2960G>C (n.*2960G>C)
c.3063G>C (p.Leu1021=)
c.*1546G>C (n.*1546G>C)
c.*3070G>C (n.*3070G>C)
c.2820G>C (p.Leu940=)
c.837G>C (p.Leu279=)
c.896G>C
c.2028G>C (p.Leu676=)
c.3156G>C (p.Leu1052=)
c.71G>C
c.3336G>C (p.Leu1112=)
c.3003G>C (p.Leu1001=)
7g.117611687G=CA1737387142CFTRc.3246G= (p.Leu1082=)
c.*2960G= (n.*2960G=)
c.3063G= (p.Leu1021=)
c.*1546G= (n.*1546G=)
c.*3070G= (n.*3070G=)
c.2820G= (p.Leu940=)
c.837G= (p.Leu279=)
c.896G=
c.2028G= (p.Leu676=)
c.3156G= (p.Leu1052=)
c.71G=
c.3336G= (p.Leu1112=)
c.3003G= (p.Leu1001=)
7g.117611687G>TCA457230042CFTRc.3246G>T (p.Leu1082=)
c.*2960G>T (n.*2960G>T)
c.3063G>T (p.Leu1021=)
c.*1546G>T (n.*1546G>T)
c.*3070G>T (n.*3070G>T)
c.2820G>T (p.Leu940=)
c.837G>T (p.Leu279=)
c.896G>T
c.2028G>T (p.Leu676=)
c.3156G>T (p.Leu1052=)
c.71G>T
c.3336G>T (p.Leu1112=)
c.3003G>T (p.Leu1001=)
 dbSNP
7g.117611688A>CCA368992239CFTRc.3247A>C (p.Asn1083His)
c.*2961A>C (n.*2961A>C)
c.3064A>C (p.Asn1022His)
c.*1547A>C (n.*1547A>C)
c.*3071A>C (n.*3071A>C)
c.2821A>C (p.Asn941His)
c.838A>C (p.Asn280His)
c.897A>C
c.2029A>C (p.Asn677His)
c.3157A>C (p.Asn1053His)
c.72A>C
c.3337A>C (p.Asn1113His)
c.3004A>C (p.Asn1002His)
7g.117611688A>GCA368992240CFTRc.3247A>G (p.Asn1083Asp)
c.*2961A>G (n.*2961A>G)
c.3064A>G (p.Asn1022Asp)
c.*1547A>G (n.*1547A>G)
c.*3071A>G (n.*3071A>G)
c.2821A>G (p.Asn941Asp)
c.838A>G (p.Asn280Asp)
c.897A>G
c.2029A>G (p.Asn677Asp)
c.3157A>G (p.Asn1053Asp)
c.72A>G
c.3337A>G (p.Asn1113Asp)
c.3004A>G (p.Asn1002Asp)
 ClinVar
7g.117611688A>TCA368992242CFTRc.3247A>T (p.Asn1083Tyr)
c.*2961A>T (n.*2961A>T)
c.3064A>T (p.Asn1022Tyr)
c.*1547A>T (n.*1547A>T)
c.*3071A>T (n.*3071A>T)
c.2821A>T (p.Asn941Tyr)
c.838A>T (p.Asn280Tyr)
c.897A>T
c.2029A>T (p.Asn677Tyr)
c.3157A>T (p.Asn1053Tyr)
c.72A>T
c.3337A>T (p.Asn1113Tyr)
c.3004A>T (p.Asn1002Tyr)
7g.117611689A>CCA368992243CFTRc.3248A>C (p.Asn1083Thr)
c.*2962A>C (n.*2962A>C)
c.3065A>C (p.Asn1022Thr)
c.*1548A>C (n.*1548A>C)
c.*3072A>C (n.*3072A>C)
c.2822A>C (p.Asn941Thr)
c.839A>C (p.Asn280Thr)
c.898A>C
c.2030A>C (p.Asn677Thr)
c.3158A>C (p.Asn1053Thr)
c.73A>C
c.3338A>C (p.Asn1113Thr)
c.3005A>C (p.Asn1002Thr)
7g.117611689A>GCA368992245CFTRc.3248A>G (p.Asn1083Ser)
c.*2962A>G (n.*2962A>G)
c.3065A>G (p.Asn1022Ser)
c.*1548A>G (n.*1548A>G)
c.*3072A>G (n.*3072A>G)
c.2822A>G (p.Asn941Ser)
c.839A>G (p.Asn280Ser)
c.898A>G
c.2030A>G (p.Asn677Ser)
c.3158A>G (p.Asn1053Ser)
c.73A>G
c.3338A>G (p.Asn1113Ser)
c.3005A>G (p.Asn1002Ser)
7g.117611689A>TCA368992247CFTRc.3248A>T (p.Asn1083Ile)
c.*2962A>T (n.*2962A>T)
c.3065A>T (p.Asn1022Ile)
c.*1548A>T (n.*1548A>T)
c.*3072A>T (n.*3072A>T)
c.2822A>T (p.Asn941Ile)
c.839A>T (p.Asn280Ile)
c.898A>T
c.2030A>T (p.Asn677Ile)
c.3158A>T (p.Asn1053Ile)
c.73A>T
c.3338A>T (p.Asn1113Ile)
c.3005A>T (p.Asn1002Ile)
7g.117611690T>ACA368992248CFTRc.3249T>A (p.Asn1083Lys)
c.*2963T>A (n.*2963T>A)
c.3066T>A (p.Asn1022Lys)
c.*1549T>A (n.*1549T>A)
c.*3073T>A (n.*3073T>A)
c.2823T>A (p.Asn941Lys)
c.840T>A (p.Asn280Lys)
c.899T>A
c.2031T>A (p.Asn677Lys)
c.3159T>A (p.Asn1053Lys)
c.74T>A
c.3339T>A (p.Asn1113Lys)
c.3006T>A (p.Asn1002Lys)
 ClinVar dbSNP
7g.117611690T>CCA457230043CFTRc.3249T>C (p.Asn1083=)
c.*2963T>C (n.*2963T>C)
c.3066T>C (p.Asn1022=)
c.*1549T>C (n.*1549T>C)
c.*3073T>C (n.*3073T>C)
c.2823T>C (p.Asn941=)
c.840T>C (p.Asn280=)
c.899T>C
c.2031T>C (p.Asn677=)
c.3159T>C (p.Asn1053=)
c.74T>C
c.3339T>C (p.Asn1113=)
c.3006T>C (p.Asn1002=)
 ClinVar dbSNP
7g.117611690T>GCA368992250CFTRc.3249T>G (p.Asn1083Lys)
c.*2963T>G (n.*2963T>G)
c.3066T>G (p.Asn1022Lys)
c.*1549T>G (n.*1549T>G)
c.*3073T>G (n.*3073T>G)
c.2823T>G (p.Asn941Lys)
c.840T>G (p.Asn280Lys)
c.899T>G
c.2031T>G (p.Asn677Lys)
c.3159T>G (p.Asn1053Lys)
c.74T>G
c.3339T>G (p.Asn1113Lys)
c.3006T>G (p.Asn1002Lys)
7g.117611690T=CA1737387146CFTRc.3249T= (p.Asn1083=)
c.*2963T= (n.*2963T=)
c.3066T= (p.Asn1022=)
c.*1549T= (n.*1549T=)
c.*3073T= (n.*3073T=)
c.2823T= (p.Asn941=)
c.840T= (p.Asn280=)
c.899T=
c.2031T= (p.Asn677=)
c.3159T= (p.Asn1053=)
c.74T=
c.3339T= (p.Asn1113=)
c.3006T= (p.Asn1002=)
7g.117611691T>ACA368992252CFTRc.3250T>A (p.Leu1084Ile)
c.*2964T>A (n.*2964T>A)
c.3067T>A (p.Leu1023Ile)
c.*1550T>A (n.*1550T>A)
c.*3074T>A (n.*3074T>A)
c.2824T>A (p.Leu942Ile)
c.841T>A (p.Leu281Ile)
c.900T>A
c.2032T>A (p.Leu678Ile)
c.3160T>A (p.Leu1054Ile)
c.75T>A
c.3340T>A (p.Leu1114Ile)
c.3007T>A (p.Leu1003Ile)
7g.117611691T>CCA457230044CFTRc.3250T>C (p.Leu1084=)
c.*2964T>C (n.*2964T>C)
c.3067T>C (p.Leu1023=)
c.*1550T>C (n.*1550T>C)
c.*3074T>C (n.*3074T>C)
c.2824T>C (p.Leu942=)
c.841T>C (p.Leu281=)
c.900T>C
c.2032T>C (p.Leu678=)
c.3160T>C (p.Leu1054=)
c.75T>C
c.3340T>C (p.Leu1114=)
c.3007T>C (p.Leu1003=)
7g.117611691T>GCA368992253CFTRc.3250T>G (p.Leu1084Val)
c.*2964T>G (n.*2964T>G)
c.3067T>G (p.Leu1023Val)
c.*1550T>G (n.*1550T>G)
c.*3074T>G (n.*3074T>G)
c.2824T>G (p.Leu942Val)
c.841T>G (p.Leu281Val)
c.900T>G
c.2032T>G (p.Leu678Val)
c.3160T>G (p.Leu1054Val)
c.75T>G
c.3340T>G (p.Leu1114Val)
c.3007T>G (p.Leu1003Val)
7g.117611692T>ACA368992257CFTRc.3251T>A (p.Leu1084Ter)
c.*2965T>A (n.*2965T>A)
c.3068T>A (p.Leu1023Ter)
c.*1551T>A (n.*1551T>A)
c.*3075T>A (n.*3075T>A)
c.2825T>A (p.Leu942Ter)
c.842T>A (p.Leu281Ter)
c.901T>A
c.2033T>A (p.Leu678Ter)
c.3161T>A (p.Leu1054Ter)
c.76T>A
c.3341T>A (p.Leu1114Ter)
c.3008T>A (p.Leu1003Ter)
7g.117611692T>CCA368992258CFTRc.3251T>C (p.Leu1084Ser)
c.*2965T>C (n.*2965T>C)
c.3068T>C (p.Leu1023Ser)
c.*1551T>C (n.*1551T>C)
c.*3075T>C (n.*3075T>C)
c.2825T>C (p.Leu942Ser)
c.842T>C (p.Leu281Ser)
c.901T>C
c.2033T>C (p.Leu678Ser)
c.3161T>C (p.Leu1054Ser)
c.76T>C
c.3341T>C (p.Leu1114Ser)
c.3008T>C (p.Leu1003Ser)
7g.117611692T>GCA368992255CFTRc.3251T>G (p.Leu1084Ter)
c.*2965T>G (n.*2965T>G)
c.3068T>G (p.Leu1023Ter)
c.*1551T>G (n.*1551T>G)
c.*3075T>G (n.*3075T>G)
c.2825T>G (p.Leu942Ter)
c.842T>G (p.Leu281Ter)
c.901T>G
c.2033T>G (p.Leu678Ter)
c.3161T>G (p.Leu1054Ter)
c.76T>G
c.3341T>G (p.Leu1114Ter)
c.3008T>G (p.Leu1003Ter)
7g.117611693A=CA1737387150CFTRc.3252A= (p.Leu1084=)
c.*2966A= (n.*2966A=)
c.3069A= (p.Leu1023=)
c.*1552A= (n.*1552A=)
c.*3076A= (n.*3076A=)
c.2826A= (p.Leu942=)
c.843A= (p.Leu281=)
c.902A=
c.2034A= (p.Leu678=)
c.3162A= (p.Leu1054=)
c.77A=
c.3342A= (p.Leu1114=)
c.3009A= (p.Leu1003=)
7g.117611693A>CCA368992263CFTRc.3252A>C (p.Leu1084Phe)
c.*2966A>C (n.*2966A>C)
c.3069A>C (p.Leu1023Phe)
c.*1552A>C (n.*1552A>C)
c.*3076A>C (n.*3076A>C)
c.2826A>C (p.Leu942Phe)
c.843A>C (p.Leu281Phe)
c.902A>C
c.2034A>C (p.Leu678Phe)
c.3162A>C (p.Leu1054Phe)
c.77A>C
c.3342A>C (p.Leu1114Phe)
c.3009A>C (p.Leu1003Phe)
7g.117611693A>GCA164966497CFTRc.3252A>G (p.Leu1084=)
c.*2966A>G (n.*2966A>G)
c.3069A>G (p.Leu1023=)
c.*1552A>G (n.*1552A>G)
c.*3076A>G (n.*3076A>G)
c.2826A>G (p.Leu942=)
c.843A>G (p.Leu281=)
c.902A>G
c.2034A>G (p.Leu678=)
c.3162A>G (p.Leu1054=)
c.77A>G
c.3342A>G (p.Leu1114=)
c.3009A>G (p.Leu1003=)
 dbSNP
7g.117611693A>TCA368992261CFTRc.3252A>T (p.Leu1084Phe)
c.*2966A>T (n.*2966A>T)
c.3069A>T (p.Leu1023Phe)
c.*1552A>T (n.*1552A>T)
c.*3076A>T (n.*3076A>T)
c.2826A>T (p.Leu942Phe)
c.843A>T (p.Leu281Phe)
c.902A>T
c.2034A>T (p.Leu678Phe)
c.3162A>T (p.Leu1054Phe)
c.77A>T
c.3342A>T (p.Leu1114Phe)
c.3009A>T (p.Leu1003Phe)
7g.117611694C>ACA368992265CFTRc.3253C>A (p.His1085Asn)
c.*2967C>A (n.*2967C>A)
c.3070C>A (p.His1024Asn)
c.*1553C>A (n.*1553C>A)
c.*3077C>A (n.*3077C>A)
c.2827C>A (p.His943Asn)
c.1C>A (p.His1Asn)
c.844C>A (p.His282Asn)
c.903C>A
c.2035C>A (p.His679Asn)
c.3163C>A (p.His1055Asn)
c.78C>A
c.3343C>A (p.His1115Asn)
c.3010C>A (p.His1004Asn)
7g.117611694C>GCA368992267CFTRc.3253C>G (p.His1085Asp)
c.*2967C>G (n.*2967C>G)
c.3070C>G (p.His1024Asp)
c.*1553C>G (n.*1553C>G)
c.*3077C>G (n.*3077C>G)
c.2827C>G (p.His943Asp)
c.1C>G (p.His1Asp)
c.844C>G (p.His282Asp)
c.903C>G
c.2035C>G (p.His679Asp)
c.3163C>G (p.His1055Asp)
c.78C>G
c.3343C>G (p.His1115Asp)
c.3010C>G (p.His1004Asp)
7g.117611694C>TCA368992269CFTRc.3253C>T (p.His1085Tyr)
c.*2967C>T (n.*2967C>T)
c.3070C>T (p.His1024Tyr)
c.*1553C>T (n.*1553C>T)
c.*3077C>T (n.*3077C>T)
c.2827C>T (p.His943Tyr)
c.1C>T (p.His1Tyr)
c.844C>T (p.His282Tyr)
c.903C>T
c.2035C>T (p.His679Tyr)
c.3163C>T (p.His1055Tyr)
c.78C>T
c.3343C>T (p.His1115Tyr)
c.3010C>T (p.His1004Tyr)
7g.117611695A=CA1737387156CFTRc.3254A= (p.His1085=)
c.*2968A= (n.*2968A=)
c.3071A= (p.His1024=)
c.*1554A= (n.*1554A=)
c.*3078A= (n.*3078A=)
c.2828A= (p.His943=)
c.2A= (p.His1=)
c.845A= (p.His282=)
c.904A=
c.2036A= (p.His679=)
c.3164A= (p.His1055=)
c.79A=
c.3344A= (p.His1115=)
c.3011A= (p.His1004=)
7g.117611695A>CCA368992270CFTRc.3254A>C (p.His1085Pro)
c.*2968A>C (n.*2968A>C)
c.3071A>C (p.His1024Pro)
c.*1554A>C (n.*1554A>C)
c.*3078A>C (n.*3078A>C)
c.2828A>C (p.His943Pro)
c.2A>C (p.His1Pro)
c.845A>C (p.His282Pro)
c.904A>C
c.2036A>C (p.His679Pro)
c.3164A>C (p.His1055Pro)
c.79A>C
c.3344A>C (p.His1115Pro)
c.3011A>C (p.His1004Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117611695A>GCA325598CFTRc.3254A>G (p.His1085Arg)
c.*2968A>G (n.*2968A>G)
c.3071A>G (p.His1024Arg)
c.*1554A>G (n.*1554A>G)
c.*3078A>G (n.*3078A>G)
c.2828A>G (p.His943Arg)
c.2A>G (p.His1Arg)
c.845A>G (p.His282Arg)
c.904A>G
c.2036A>G (p.His679Arg)
c.3164A>G (p.His1055Arg)
c.79A>G
c.3344A>G (p.His1115Arg)
c.3011A>G (p.His1004Arg)
 ClinVar dbSNP
7g.117611695A>TCA368992273CFTRc.3254A>T (p.His1085Leu)
c.*2968A>T (n.*2968A>T)
c.3071A>T (p.His1024Leu)
c.*1554A>T (n.*1554A>T)
c.*3078A>T (n.*3078A>T)
c.2828A>T (p.His943Leu)
c.2A>T (p.His1Leu)
c.845A>T (p.His282Leu)
c.904A>T
c.2036A>T (p.His679Leu)
c.3164A>T (p.His1055Leu)
c.79A>T
c.3344A>T (p.His1115Leu)
c.3011A>T (p.His1004Leu)
7g.117611696T>ACA368992275CFTRc.3255T>A (p.His1085Gln)
c.*2969T>A (n.*2969T>A)
c.3072T>A (p.His1024Gln)
c.*1555T>A (n.*1555T>A)
c.*3079T>A (n.*3079T>A)
c.2829T>A (p.His943Gln)
c.3T>A (p.His1Gln)
c.846T>A (p.His282Gln)
c.905T>A
c.2037T>A (p.His679Gln)
c.3165T>A (p.His1055Gln)
c.80T>A
c.3345T>A (p.His1115Gln)
c.3012T>A (p.His1004Gln)
7g.117611696T>CCA457230045CFTRc.3255T>C (p.His1085=)
c.*2969T>C (n.*2969T>C)
c.3072T>C (p.His1024=)
c.*1555T>C (n.*1555T>C)
c.*3079T>C (n.*3079T>C)
c.2829T>C (p.His943=)
c.3T>C (p.His1=)
c.846T>C (p.His282=)
c.905T>C
c.2037T>C (p.His679=)
c.3165T>C (p.His1055=)
c.80T>C
c.3345T>C (p.His1115=)
c.3012T>C (p.His1004=)
7g.117611696T>GCA368992276CFTRc.3255T>G (p.His1085Gln)
c.*2969T>G (n.*2969T>G)
c.3072T>G (p.His1024Gln)
c.*1555T>G (n.*1555T>G)
c.*3079T>G (n.*3079T>G)
c.2829T>G (p.His943Gln)
c.3T>G (p.His1Gln)
c.846T>G (p.His282Gln)
c.905T>G
c.2037T>G (p.His679Gln)
c.3165T>G (p.His1055Gln)
c.80T>G
c.3345T>G (p.His1115Gln)
c.3012T>G (p.His1004Gln)
7g.117611697A=CA1737387169CFTRc.3256A= (p.Thr1086=)
c.*2970A= (n.*2970A=)
c.3073A= (p.Thr1025=)
c.*1556A= (n.*1556A=)
c.*3080A= (n.*3080A=)
c.2830A= (p.Thr944=)
c.4A= (p.Thr2=)
c.847A= (p.Thr283=)
c.906A=
c.2038A= (p.Thr680=)
c.3166A= (p.Thr1056=)
c.81A=
c.3346A= (p.Thr1116=)
c.3013A= (p.Thr1005=)
7g.117611697A>CCA368992279CFTRc.3256A>C (p.Thr1086Pro)
c.*2970A>C (n.*2970A>C)
c.3073A>C (p.Thr1025Pro)
c.*1556A>C (n.*1556A>C)
c.*3080A>C (n.*3080A>C)
c.2830A>C (p.Thr944Pro)
c.4A>C (p.Thr2Pro)
c.847A>C (p.Thr283Pro)
c.906A>C
c.2038A>C (p.Thr680Pro)
c.3166A>C (p.Thr1056Pro)
c.81A>C
c.3346A>C (p.Thr1116Pro)
c.3013A>C (p.Thr1005Pro)
7g.117611697A>GCA368992280CFTRc.3256A>G (p.Thr1086Ala)
c.*2970A>G (n.*2970A>G)
c.3073A>G (p.Thr1025Ala)
c.*1556A>G (n.*1556A>G)
c.*3080A>G (n.*3080A>G)
c.2830A>G (p.Thr944Ala)
c.4A>G (p.Thr2Ala)
c.847A>G (p.Thr283Ala)
c.906A>G
c.2038A>G (p.Thr680Ala)
c.3166A>G (p.Thr1056Ala)
c.81A>G
c.3346A>G (p.Thr1116Ala)
c.3013A>G (p.Thr1005Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117611697A>TCA16612278CFTRc.3256A>T (p.Thr1086Ser)
c.*2970A>T (n.*2970A>T)
c.3073A>T (p.Thr1025Ser)
c.*1556A>T (n.*1556A>T)
c.*3080A>T (n.*3080A>T)
c.2830A>T (p.Thr944Ser)
c.4A>T (p.Thr2Ser)
c.847A>T (p.Thr283Ser)
c.906A>T
c.2038A>T (p.Thr680Ser)
c.3166A>T (p.Thr1056Ser)
c.81A>T
c.3346A>T (p.Thr1116Ser)
c.3013A>T (p.Thr1005Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117611698C>ACA368992286CFTRc.3257C>A (p.Thr1086Asn)
c.*2971C>A (n.*2971C>A)
c.3074C>A (p.Thr1025Asn)
c.*1557C>A (n.*1557C>A)
c.*3081C>A (n.*3081C>A)
c.2831C>A (p.Thr944Asn)
c.5C>A (p.Thr2Asn)
c.848C>A (p.Thr283Asn)
c.907C>A
c.2039C>A (p.Thr680Asn)
c.3167C>A (p.Thr1056Asn)
c.82C>A
c.3347C>A (p.Thr1116Asn)
c.3014C>A (p.Thr1005Asn)
7g.117611698C=CA1737387180CFTRc.3257C= (p.Thr1086=)
c.*2971C= (n.*2971C=)
c.3074C= (p.Thr1025=)
c.*1557C= (n.*1557C=)
c.*3081C= (n.*3081C=)
c.2831C= (p.Thr944=)
c.5C= (p.Thr2=)
c.848C= (p.Thr283=)
c.907C=
c.2039C= (p.Thr680=)
c.3167C= (p.Thr1056=)
c.82C=
c.3347C= (p.Thr1116=)
c.3014C= (p.Thr1005=)
7g.117611698C>GCA368992283CFTRc.3257C>G (p.Thr1086Ser)
c.*2971C>G (n.*2971C>G)
c.3074C>G (p.Thr1025Ser)
c.*1557C>G (n.*1557C>G)
c.*3081C>G (n.*3081C>G)
c.2831C>G (p.Thr944Ser)
c.5C>G (p.Thr2Ser)
c.848C>G (p.Thr283Ser)
c.907C>G
c.2039C>G (p.Thr680Ser)
c.3167C>G (p.Thr1056Ser)
c.82C>G
c.3347C>G (p.Thr1116Ser)
c.3014C>G (p.Thr1005Ser)
7g.117611698C>TCA327112CFTRc.3257C>T (p.Thr1086Ile)
c.*2971C>T (n.*2971C>T)
c.3074C>T (p.Thr1025Ile)
c.*1557C>T (n.*1557C>T)
c.*3081C>T (n.*3081C>T)
c.2831C>T (p.Thr944Ile)
c.5C>T (p.Thr2Ile)
c.848C>T (p.Thr283Ile)
c.907C>T
c.2039C>T (p.Thr680Ile)
c.3167C>T (p.Thr1056Ile)
c.82C>T
c.3347C>T (p.Thr1116Ile)
c.3014C>T (p.Thr1005Ile)
 ClinVar dbSNP
7g.117611699T>ACA457230047CFTRc.3258T>A (p.Thr1086=)
c.*2972T>A (n.*2972T>A)
c.3075T>A (p.Thr1025=)
c.*1558T>A (n.*1558T>A)
c.*3082T>A (n.*3082T>A)
c.2832T>A (p.Thr944=)
c.6T>A (p.Thr2=)
c.849T>A (p.Thr283=)
c.908T>A
c.2040T>A (p.Thr680=)
c.3168T>A (p.Thr1056=)
c.83T>A
c.3348T>A (p.Thr1116=)
c.3015T>A (p.Thr1005=)
7g.117611699T>CCA457230048CFTRc.3258T>C (p.Thr1086=)
c.*2972T>C (n.*2972T>C)
c.3075T>C (p.Thr1025=)
c.*1558T>C (n.*1558T>C)
c.*3082T>C (n.*3082T>C)
c.2832T>C (p.Thr944=)
c.6T>C (p.Thr2=)
c.849T>C (p.Thr283=)
c.908T>C
c.2040T>C (p.Thr680=)
c.3168T>C (p.Thr1056=)
c.83T>C
c.3348T>C (p.Thr1116=)
c.3015T>C (p.Thr1005=)
 dbSNP gnomAD v2 gnomAD v4
7g.117611699T>GCA457230046CFTRc.3258T>G (p.Thr1086=)
c.*2972T>G (n.*2972T>G)
c.3075T>G (p.Thr1025=)
c.*1558T>G (n.*1558T>G)
c.*3082T>G (n.*3082T>G)
c.2832T>G (p.Thr944=)
c.6T>G (p.Thr2=)
c.849T>G (p.Thr283=)
c.908T>G
c.2040T>G (p.Thr680=)
c.3168T>G (p.Thr1056=)
c.83T>G
c.3348T>G (p.Thr1116=)
c.3015T>G (p.Thr1005=)
7g.117611699T=CA1737387186CFTRc.3258T= (p.Thr1086=)
c.*2972T= (n.*2972T=)
c.3075T= (p.Thr1025=)
c.*1558T= (n.*1558T=)
c.*3082T= (n.*3082T=)
c.2832T= (p.Thr944=)
c.6T= (p.Thr2=)
c.849T= (p.Thr283=)
c.908T=
c.2040T= (p.Thr680=)
c.3168T= (p.Thr1056=)
c.83T=
c.3348T= (p.Thr1116=)
c.3015T= (p.Thr1005=)
7g.117611700G>ACA368992287CFTRc.3259G>A (p.Ala1087Thr)
c.*2973G>A (n.*2973G>A)
c.3076G>A (p.Ala1026Thr)
c.*1559G>A (n.*1559G>A)
c.*3083G>A (n.*3083G>A)
c.2833G>A (p.Ala945Thr)
c.7G>A (p.Ala3Thr)
c.850G>A (p.Ala284Thr)
c.909G>A
c.2041G>A (p.Ala681Thr)
c.3169G>A (p.Ala1057Thr)
c.84G>A
c.3349G>A (p.Ala1117Thr)
c.3016G>A (p.Ala1006Thr)
7g.117611700G>CCA368992288CFTRc.3259G>C (p.Ala1087Pro)
c.*2973G>C (n.*2973G>C)
c.3076G>C (p.Ala1026Pro)
c.*1559G>C (n.*1559G>C)
c.*3083G>C (n.*3083G>C)
c.2833G>C (p.Ala945Pro)
c.7G>C (p.Ala3Pro)
c.850G>C (p.Ala284Pro)
c.909G>C
c.2041G>C (p.Ala681Pro)
c.3169G>C (p.Ala1057Pro)
c.84G>C
c.3349G>C (p.Ala1117Pro)
c.3016G>C (p.Ala1006Pro)
 ClinVar dbSNP gnomAD v4
7g.117611700G=CA1737387190CFTRc.3259G= (p.Ala1087=)
c.*2973G= (n.*2973G=)
c.3076G= (p.Ala1026=)
c.*1559G= (n.*1559G=)
c.*3083G= (n.*3083G=)
c.2833G= (p.Ala945=)
c.7G= (p.Ala3=)
c.850G= (p.Ala284=)
c.909G=
c.2041G= (p.Ala681=)
c.3169G= (p.Ala1057=)
c.84G=
c.3349G= (p.Ala1117=)
c.3016G= (p.Ala1006=)
7g.117611700G>TCA164966526CFTRc.3259G>T (p.Ala1087Ser)
c.*2973G>T (n.*2973G>T)
c.3076G>T (p.Ala1026Ser)
c.*1559G>T (n.*1559G>T)
c.*3083G>T (n.*3083G>T)
c.2833G>T (p.Ala945Ser)
c.7G>T (p.Ala3Ser)
c.850G>T (p.Ala284Ser)
c.909G>T
c.2041G>T (p.Ala681Ser)
c.3169G>T (p.Ala1057Ser)
c.84G>T
c.3349G>T (p.Ala1117Ser)
c.3016G>T (p.Ala1006Ser)
 dbSNP
7g.117611701C>ACA368992290CFTRc.3260C>A (p.Ala1087Asp)
c.*2974C>A (n.*2974C>A)
c.3077C>A (p.Ala1026Asp)
c.*1560C>A (n.*1560C>A)
c.*3084C>A (n.*3084C>A)
c.2834C>A (p.Ala945Asp)
c.8C>A (p.Ala3Asp)
c.851C>A (p.Ala284Asp)
c.910C>A
c.2042C>A (p.Ala681Asp)
c.3170C>A (p.Ala1057Asp)
c.85C>A
c.3350C>A (p.Ala1117Asp)
c.3017C>A (p.Ala1006Asp)
7g.117611701C=CA1737387195CFTRc.3260C= (p.Ala1087=)
c.*2974C= (n.*2974C=)
c.3077C= (p.Ala1026=)
c.*1560C= (n.*1560C=)
c.*3084C= (n.*3084C=)
c.2834C= (p.Ala945=)
c.8C= (p.Ala3=)
c.851C= (p.Ala284=)
c.910C=
c.2042C= (p.Ala681=)
c.3170C= (p.Ala1057=)
c.85C=
c.3350C= (p.Ala1117=)
c.3017C= (p.Ala1006=)
7g.117611701C>GCA368992291CFTRc.3260C>G (p.Ala1087Gly)
c.*2974C>G (n.*2974C>G)
c.3077C>G (p.Ala1026Gly)
c.*1560C>G (n.*1560C>G)
c.*3084C>G (n.*3084C>G)
c.2834C>G (p.Ala945Gly)
c.8C>G (p.Ala3Gly)
c.851C>G (p.Ala284Gly)
c.910C>G
c.2042C>G (p.Ala681Gly)
c.3170C>G (p.Ala1057Gly)
c.85C>G
c.3350C>G (p.Ala1117Gly)
c.3017C>G (p.Ala1006Gly)
7g.117611701C>TCA164966544CFTRc.3260C>T (p.Ala1087Val)
c.*2974C>T (n.*2974C>T)
c.3077C>T (p.Ala1026Val)
c.*1560C>T (n.*1560C>T)
c.*3084C>T (n.*3084C>T)
c.2834C>T (p.Ala945Val)
c.8C>T (p.Ala3Val)
c.851C>T (p.Ala284Val)
c.910C>T
c.2042C>T (p.Ala681Val)
c.3170C>T (p.Ala1057Val)
c.85C>T
c.3350C>T (p.Ala1117Val)
c.3017C>T (p.Ala1006Val)
 dbSNP gnomAD v3 gnomAD v4
7g.117611702C>ACA457230049CFTRc.3261C>A (p.Ala1087=)
c.*2975C>A (n.*2975C>A)
c.3078C>A (p.Ala1026=)
c.*1561C>A (n.*1561C>A)
c.*3085C>A (n.*3085C>A)
c.2835C>A (p.Ala945=)
c.9C>A (p.Ala3=)
c.852C>A (p.Ala284=)
c.911C>A
c.2043C>A (p.Ala681=)
c.3171C>A (p.Ala1057=)
c.86C>A
c.3351C>A (p.Ala1117=)
c.3018C>A (p.Ala1006=)
7g.117611702C=CA1737387198CFTRc.3261C= (p.Ala1087=)
c.*2975C= (n.*2975C=)
c.3078C= (p.Ala1026=)
c.*1561C= (n.*1561C=)
c.*3085C= (n.*3085C=)
c.2835C= (p.Ala945=)
c.9C= (p.Ala3=)
c.852C= (p.Ala284=)
c.911C=
c.2043C= (p.Ala681=)
c.3171C= (p.Ala1057=)
c.86C=
c.3351C= (p.Ala1117=)
c.3018C= (p.Ala1006=)
7g.117611702C>GCA457230050CFTRc.3261C>G (p.Ala1087=)
c.*2975C>G (n.*2975C>G)
c.3078C>G (p.Ala1026=)
c.*1561C>G (n.*1561C>G)
c.*3085C>G (n.*3085C>G)
c.2835C>G (p.Ala945=)
c.9C>G (p.Ala3=)
c.852C>G (p.Ala284=)
c.911C>G
c.2043C>G (p.Ala681=)
c.3171C>G (p.Ala1057=)
c.86C>G
c.3351C>G (p.Ala1117=)
c.3018C>G (p.Ala1006=)
7g.117611702C>TCA457230051CFTRc.3261C>T (p.Ala1087=)
c.*2975C>T (n.*2975C>T)
c.3078C>T (p.Ala1026=)
c.*1561C>T (n.*1561C>T)
c.*3085C>T (n.*3085C>T)
c.2835C>T (p.Ala945=)
c.9C>T (p.Ala3=)
c.852C>T (p.Ala284=)
c.911C>T
c.2043C>T (p.Ala681=)
c.3171C>T (p.Ala1057=)
c.86C>T
c.3351C>T (p.Ala1117=)
c.3018C>T (p.Ala1006=)
7g.117611703A=CA1737387204CFTRc.3262A= (p.Asn1088=)
c.*2976A= (n.*2976A=)
c.3079A= (p.Asn1027=)
c.*1562A= (n.*1562A=)
c.*3086A= (n.*3086A=)
c.2836A= (p.Asn946=)
c.10A= (p.Asn4=)
c.853A= (p.Asn285=)
c.912A=
c.2044A= (p.Asn682=)
c.3172A= (p.Asn1058=)
c.87A=
c.3352A= (p.Asn1118=)
c.3019A= (p.Asn1007=)
7g.117611703A>CCA368992294CFTRc.3262A>C (p.Asn1088His)
c.*2976A>C (n.*2976A>C)
c.3079A>C (p.Asn1027His)
c.*1562A>C (n.*1562A>C)
c.*3086A>C (n.*3086A>C)
c.2836A>C (p.Asn946His)
c.10A>C (p.Asn4His)
c.853A>C (p.Asn285His)
c.912A>C
c.2044A>C (p.Asn682His)
c.3172A>C (p.Asn1058His)
c.87A>C
c.3352A>C (p.Asn1118His)
c.3019A>C (p.Asn1007His)
 gnomAD v4
7g.117611703A>GCA327116CFTRc.3262A>G (p.Asn1088Asp)
c.*2976A>G (n.*2976A>G)
c.3079A>G (p.Asn1027Asp)
c.*1562A>G (n.*1562A>G)
c.*3086A>G (n.*3086A>G)
c.2836A>G (p.Asn946Asp)
c.10A>G (p.Asn4Asp)
c.853A>G (p.Asn285Asp)
c.912A>G
c.2044A>G (p.Asn682Asp)
c.3172A>G (p.Asn1058Asp)
c.87A>G
c.3352A>G (p.Asn1118Asp)
c.3019A>G (p.Asn1007Asp)
 ClinVar dbSNP gnomAD v4
7g.117611703A>TCA368992296CFTRc.3262A>T (p.Asn1088Tyr)
c.*2976A>T (n.*2976A>T)
c.3079A>T (p.Asn1027Tyr)
c.*1562A>T (n.*1562A>T)
c.*3086A>T (n.*3086A>T)
c.2836A>T (p.Asn946Tyr)
c.10A>T (p.Asn4Tyr)
c.853A>T (p.Asn285Tyr)
c.912A>T
c.2044A>T (p.Asn682Tyr)
c.3172A>T (p.Asn1058Tyr)
c.87A>T
c.3352A>T (p.Asn1118Tyr)
c.3019A>T (p.Asn1007Tyr)
7g.117611704dupCA327118CFTRc.3263dup (p.Asn1088LysfsTer?)
c.*2977dup (n.*2977dup)
c.3080dup (p.Asn1027LysfsTer?)
c.*1563dup (n.*1563dup)
c.*3087dup (n.*3087dup)
c.2837dup (p.Asn946LysfsTer?)
c.11dup (p.Asn4LysfsTer?)
c.854dup (p.Asn285LysfsTer?)
c.913dup
c.2045dup (p.Asn682LysfsTer?)
c.3173dup (p.Asn1058LysfsTer?)
c.88dup
c.3353dup (p.Asn1118LysfsTer?)
c.3020dup (p.Asn1007LysfsTer?)
 ClinVar dbSNP
7g.117611704A=CA1737387221CFTRc.3263A= (p.Asn1088=)
c.*2977A= (n.*2977A=)
c.3080A= (p.Asn1027=)
c.*1563A= (n.*1563A=)
c.*3087A= (n.*3087A=)
c.2837A= (p.Asn946=)
c.11A= (p.Asn4=)
c.854A= (p.Asn285=)
c.913A=
c.2045A= (p.Asn682=)
c.3173A= (p.Asn1058=)
c.88A=
c.3353A= (p.Asn1118=)
c.3020A= (p.Asn1007=)
7g.117611704A>CCA368992297CFTRc.3263A>C (p.Asn1088Thr)
c.*2977A>C (n.*2977A>C)
c.3080A>C (p.Asn1027Thr)
c.*1563A>C (n.*1563A>C)
c.*3087A>C (n.*3087A>C)
c.2837A>C (p.Asn946Thr)
c.11A>C (p.Asn4Thr)
c.854A>C (p.Asn285Thr)
c.913A>C
c.2045A>C (p.Asn682Thr)
c.3173A>C (p.Asn1058Thr)
c.88A>C
c.3353A>C (p.Asn1118Thr)
c.3020A>C (p.Asn1007Thr)
7g.117611704A>GCA368992298CFTRc.3263A>G (p.Asn1088Ser)
c.*2977A>G (n.*2977A>G)
c.3080A>G (p.Asn1027Ser)
c.*1563A>G (n.*1563A>G)
c.*3087A>G (n.*3087A>G)
c.2837A>G (p.Asn946Ser)
c.11A>G (p.Asn4Ser)
c.854A>G (p.Asn285Ser)
c.913A>G
c.2045A>G (p.Asn682Ser)
c.3173A>G (p.Asn1058Ser)
c.88A>G
c.3353A>G (p.Asn1118Ser)
c.3020A>G (p.Asn1007Ser)
 dbSNP gnomAD v4 COSMIC
7g.117611704A>TCA368992299CFTRc.3263A>T (p.Asn1088Ile)
c.*2977A>T (n.*2977A>T)
c.3080A>T (p.Asn1027Ile)
c.*1563A>T (n.*1563A>T)
c.*3087A>T (n.*3087A>T)
c.2837A>T (p.Asn946Ile)
c.11A>T (p.Asn4Ile)
c.854A>T (p.Asn285Ile)
c.913A>T
c.2045A>T (p.Asn682Ile)
c.3173A>T (p.Asn1058Ile)
c.88A>T
c.3353A>T (p.Asn1118Ile)
c.3020A>T (p.Asn1007Ile)
7g.117611704_117611705delinsACCA1737387218CFTRc.3263_3264delinsAC (p.Asn1088=)
c.*2977_*2978delinsAC (n.*2977_*2978delinsAC)
c.3080_3081delinsAC (p.Asn1027=)
c.*1563_*1564delinsAC (n.*1563_*1564delinsAC)
c.*3087_*3088delinsAC (n.*3087_*3088delinsAC)
c.2837_2838delinsAC (p.Asn946=)
c.11_12delinsAC (p.Asn4=)
c.854_855delinsAC (p.Asn285=)
c.913_914delinsAC
c.2045_2046delinsAC (p.Asn682=)
c.3173_3174delinsAC (p.Asn1058=)
c.88_89delinsAC
c.3353_3354delinsAC (p.Asn1118=)
c.3020_3021delinsAC (p.Asn1007=)
7g.117611705delCA327119CFTRc.3264del (p.Trp1089GlyfsTer13)
c.*2978del (n.*2978del)
c.3081del (p.Trp1028GlyfsTer13)
c.*1564del (n.*1564del)
c.*3088del (n.*3088del)
c.2838del (p.Trp947GlyfsTer13)
c.12del (p.Trp5GlyfsTer13)
c.855del (p.Trp286GlyfsTer13)
c.914del
c.2046del (p.Trp683GlyfsTer13)
c.3174del (p.Trp1059GlyfsTer13)
c.89del
c.3354del (p.Trp1119GlyfsTer13)
c.3021del (p.Trp1008GlyfsTer13)
 ClinVar dbSNP
7g.117611705C>ACA368992304CFTRc.3264C>A (p.Asn1088Lys)
c.*2978C>A (n.*2978C>A)
c.3081C>A (p.Asn1027Lys)
c.*1564C>A (n.*1564C>A)
c.*3088C>A (n.*3088C>A)
c.2838C>A (p.Asn946Lys)
c.12C>A (p.Asn4Lys)
c.855C>A (p.Asn285Lys)
c.914C>A
c.2046C>A (p.Asn682Lys)
c.3174C>A (p.Asn1058Lys)
c.89C>A
c.3354C>A (p.Asn1118Lys)
c.3021C>A (p.Asn1007Lys)
7g.117611705C>GCA368992302CFTRc.3264C>G (p.Asn1088Lys)
c.*2978C>G (n.*2978C>G)
c.3081C>G (p.Asn1027Lys)
c.*1564C>G (n.*1564C>G)
c.*3088C>G (n.*3088C>G)
c.2838C>G (p.Asn946Lys)
c.12C>G (p.Asn4Lys)
c.855C>G (p.Asn285Lys)
c.914C>G
c.2046C>G (p.Asn682Lys)
c.3174C>G (p.Asn1058Lys)
c.89C>G
c.3354C>G (p.Asn1118Lys)
c.3021C>G (p.Asn1007Lys)
7g.117611705C>TCA457230052CFTRc.3264C>T (p.Asn1088=)
c.*2978C>T (n.*2978C>T)
c.3081C>T (p.Asn1027=)
c.*1564C>T (n.*1564C>T)
c.*3088C>T (n.*3088C>T)
c.2838C>T (p.Asn946=)
c.12C>T (p.Asn4=)
c.855C>T (p.Asn285=)
c.914C>T
c.2046C>T (p.Asn682=)
c.3174C>T (p.Asn1058=)
c.89C>T
c.3354C>T (p.Asn1118=)
c.3021C>T (p.Asn1007=)
7g.117611706T>ACA368992305CFTRc.3265T>A (p.Trp1089Arg)
c.*2979T>A (n.*2979T>A)
c.3082T>A (p.Trp1028Arg)
c.*1565T>A (n.*1565T>A)
c.*3089T>A (n.*3089T>A)
c.2839T>A (p.Trp947Arg)
c.13T>A (p.Trp5Arg)
c.856T>A (p.Trp286Arg)
c.915T>A
c.2047T>A (p.Trp683Arg)
c.3175T>A (p.Trp1059Arg)
c.90T>A
c.3355T>A (p.Trp1119Arg)
c.3022T>A (p.Trp1008Arg)
7g.117611706T>CCA368992309CFTRc.3265T>C (p.Trp1089Arg)
c.*2979T>C (n.*2979T>C)
c.3082T>C (p.Trp1028Arg)
c.*1565T>C (n.*1565T>C)
c.*3089T>C (n.*3089T>C)
c.2839T>C (p.Trp947Arg)
c.13T>C (p.Trp5Arg)
c.856T>C (p.Trp286Arg)
c.915T>C
c.2047T>C (p.Trp683Arg)
c.3175T>C (p.Trp1059Arg)
c.90T>C
c.3355T>C (p.Trp1119Arg)
c.3022T>C (p.Trp1008Arg)
7g.117611706T>GCA368992307CFTRc.3265T>G (p.Trp1089Gly)
c.*2979T>G (n.*2979T>G)
c.3082T>G (p.Trp1028Gly)
c.*1565T>G (n.*1565T>G)
c.*3089T>G (n.*3089T>G)
c.2839T>G (p.Trp947Gly)
c.13T>G (p.Trp5Gly)
c.856T>G (p.Trp286Gly)
c.915T>G
c.2047T>G (p.Trp683Gly)
c.3175T>G (p.Trp1059Gly)
c.90T>G
c.3355T>G (p.Trp1119Gly)
c.3022T>G (p.Trp1008Gly)
7g.117611707G>ACA340653CFTRc.3266G>A (p.Trp1089Ter)
c.*2980G>A (n.*2980G>A)
c.3083G>A (p.Trp1028Ter)
c.*1566G>A (n.*1566G>A)
c.*3090G>A (n.*3090G>A)
c.2840G>A (p.Trp947Ter)
c.14G>A (p.Trp5Ter)
c.857G>A (p.Trp286Ter)
c.916G>A
c.2048G>A (p.Trp683Ter)
c.3176G>A (p.Trp1059Ter)
c.91G>A
c.3356G>A (p.Trp1119Ter)
c.3023G>A (p.Trp1008Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117611707G>CCA368992312CFTRc.3266G>C (p.Trp1089Ser)
c.*2980G>C (n.*2980G>C)
c.3083G>C (p.Trp1028Ser)
c.*1566G>C (n.*1566G>C)
c.*3090G>C (n.*3090G>C)
c.2840G>C (p.Trp947Ser)
c.14G>C (p.Trp5Ser)
c.857G>C (p.Trp286Ser)
c.916G>C
c.2048G>C (p.Trp683Ser)
c.3176G>C (p.Trp1059Ser)
c.91G>C
c.3356G>C (p.Trp1119Ser)
c.3023G>C (p.Trp1008Ser)
7g.117611707G=CA1737387240CFTRc.3266G= (p.Trp1089=)
c.*2980G= (n.*2980G=)
c.3083G= (p.Trp1028=)
c.*1566G= (n.*1566G=)
c.*3090G= (n.*3090G=)
c.2840G= (p.Trp947=)
c.14G= (p.Trp5=)
c.857G= (p.Trp286=)
c.916G=
c.2048G= (p.Trp683=)
c.3176G= (p.Trp1059=)
c.91G=
c.3356G= (p.Trp1119=)
c.3023G= (p.Trp1008=)
7g.117611707G>TCA368992313CFTRc.3266G>T (p.Trp1089Leu)
c.*2980G>T (n.*2980G>T)
c.3083G>T (p.Trp1028Leu)
c.*1566G>T (n.*1566G>T)
c.*3090G>T (n.*3090G>T)
c.2840G>T (p.Trp947Leu)
c.14G>T (p.Trp5Leu)
c.857G>T (p.Trp286Leu)
c.916G>T
c.2048G>T (p.Trp683Leu)
c.3176G>T (p.Trp1059Leu)
c.91G>T
c.3356G>T (p.Trp1119Leu)
c.3023G>T (p.Trp1008Leu)
 ClinVar gnomAD v4
7g.117611708G>ACA368992315CFTRc.3267G>A (p.Trp1089Ter)
c.*2981G>A (n.*2981G>A)
c.3084G>A (p.Trp1028Ter)
c.*1567G>A (n.*1567G>A)
c.*3091G>A (n.*3091G>A)
c.2841G>A (p.Trp947Ter)
c.15G>A (p.Trp5Ter)
c.858G>A (p.Trp286Ter)
c.917G>A
c.2049G>A (p.Trp683Ter)
c.3177G>A (p.Trp1059Ter)
c.92G>A
c.3357G>A (p.Trp1119Ter)
c.3024G>A (p.Trp1008Ter)
 ClinVar dbSNP
7g.117611708G>CCA4451413CFTRc.3267G>C (p.Trp1089Cys)
c.*2981G>C (n.*2981G>C)
c.3084G>C (p.Trp1028Cys)
c.*1567G>C (n.*1567G>C)
c.*3091G>C (n.*3091G>C)
c.2841G>C (p.Trp947Cys)
c.15G>C (p.Trp5Cys)
c.858G>C (p.Trp286Cys)
c.917G>C
c.2049G>C (p.Trp683Cys)
c.3177G>C (p.Trp1059Cys)
c.92G>C
c.3357G>C (p.Trp1119Cys)
c.3024G>C (p.Trp1008Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611708G=CA1737387253CFTRc.3267G= (p.Trp1089=)
c.*2981G= (n.*2981G=)
c.3084G= (p.Trp1028=)
c.*1567G= (n.*1567G=)
c.*3091G= (n.*3091G=)
c.2841G= (p.Trp947=)
c.15G= (p.Trp5=)
c.858G= (p.Trp286=)
c.917G=
c.2049G= (p.Trp683=)
c.3177G= (p.Trp1059=)
c.92G=
c.3357G= (p.Trp1119=)
c.3024G= (p.Trp1008=)
7g.117611708G>TCA368992318CFTRc.3267G>T (p.Trp1089Cys)
c.*2981G>T (n.*2981G>T)
c.3084G>T (p.Trp1028Cys)
c.*1567G>T (n.*1567G>T)
c.*3091G>T (n.*3091G>T)
c.2841G>T (p.Trp947Cys)
c.15G>T (p.Trp5Cys)
c.858G>T (p.Trp286Cys)
c.917G>T
c.2049G>T (p.Trp683Cys)
c.3177G>T (p.Trp1059Cys)
c.92G>T
c.3357G>T (p.Trp1119Cys)
c.3024G>T (p.Trp1008Cys)
7g.117611709T>ACA368992319CFTRc.3268T>A (p.Phe1090Ile)
c.*2982T>A (n.*2982T>A)
c.3085T>A (p.Phe1029Ile)
c.*1568T>A (n.*1568T>A)
c.*3092T>A (n.*3092T>A)
c.2842T>A (p.Phe948Ile)
c.16T>A (p.Phe6Ile)
c.859T>A (p.Phe287Ile)
c.918T>A
c.2050T>A (p.Phe684Ile)
c.3178T>A (p.Phe1060Ile)
c.93T>A
c.3358T>A (p.Phe1120Ile)
c.3025T>A (p.Phe1009Ile)
7g.117611709T>CCA368992320CFTRc.3268T>C (p.Phe1090Leu)
c.*2982T>C (n.*2982T>C)
c.3085T>C (p.Phe1029Leu)
c.*1568T>C (n.*1568T>C)
c.*3092T>C (n.*3092T>C)
c.2842T>C (p.Phe948Leu)
c.16T>C (p.Phe6Leu)
c.859T>C (p.Phe287Leu)
c.918T>C
c.2050T>C (p.Phe684Leu)
c.3178T>C (p.Phe1060Leu)
c.93T>C
c.3358T>C (p.Phe1120Leu)
c.3025T>C (p.Phe1009Leu)
7g.117611709T>GCA368992322CFTRc.3268T>G (p.Phe1090Val)
c.*2982T>G (n.*2982T>G)
c.3085T>G (p.Phe1029Val)
c.*1568T>G (n.*1568T>G)
c.*3092T>G (n.*3092T>G)
c.2842T>G (p.Phe948Val)
c.16T>G (p.Phe6Val)
c.859T>G (p.Phe287Val)
c.918T>G
c.2050T>G (p.Phe684Val)
c.3178T>G (p.Phe1060Val)
c.93T>G
c.3358T>G (p.Phe1120Val)
c.3025T>G (p.Phe1009Val)
7g.117611710T>ACA368992325CFTRc.3269T>A (p.Phe1090Tyr)
c.*2983T>A (n.*2983T>A)
c.3086T>A (p.Phe1029Tyr)
c.*1569T>A (n.*1569T>A)
c.*3093T>A (n.*3093T>A)
c.2843T>A (p.Phe948Tyr)
c.17T>A (p.Phe6Tyr)
c.860T>A (p.Phe287Tyr)
c.919T>A
c.2051T>A (p.Phe684Tyr)
c.3179T>A (p.Phe1060Tyr)
c.94T>A
c.3359T>A (p.Phe1120Tyr)
c.3026T>A (p.Phe1009Tyr)
7g.117611710T>CCA368992326CFTRc.3269T>C (p.Phe1090Ser)
c.*2983T>C (n.*2983T>C)
c.3086T>C (p.Phe1029Ser)
c.*1569T>C (n.*1569T>C)
c.*3093T>C (n.*3093T>C)
c.2843T>C (p.Phe948Ser)
c.17T>C (p.Phe6Ser)
c.860T>C (p.Phe287Ser)
c.919T>C
c.2051T>C (p.Phe684Ser)
c.3179T>C (p.Phe1060Ser)
c.94T>C
c.3359T>C (p.Phe1120Ser)
c.3026T>C (p.Phe1009Ser)
7g.117611710T>GCA368992328CFTRc.3269T>G (p.Phe1090Cys)
c.*2983T>G (n.*2983T>G)
c.3086T>G (p.Phe1029Cys)
c.*1569T>G (n.*1569T>G)
c.*3093T>G (n.*3093T>G)
c.2843T>G (p.Phe948Cys)
c.17T>G (p.Phe6Cys)
c.860T>G (p.Phe287Cys)
c.919T>G
c.2051T>G (p.Phe684Cys)
c.3179T>G (p.Phe1060Cys)
c.94T>G
c.3359T>G (p.Phe1120Cys)
c.3026T>G (p.Phe1009Cys)
7g.117611711C>ACA368992330CFTRc.3270C>A (p.Phe1090Leu)
c.*2984C>A (n.*2984C>A)
c.3087C>A (p.Phe1029Leu)
c.*1570C>A (n.*1570C>A)
c.*3094C>A (n.*3094C>A)
c.2844C>A (p.Phe948Leu)
c.18C>A (p.Phe6Leu)
c.861C>A (p.Phe287Leu)
c.920C>A
c.2052C>A (p.Phe684Leu)
c.3180C>A (p.Phe1060Leu)
c.95C>A
c.3360C>A (p.Phe1120Leu)
c.3027C>A (p.Phe1009Leu)
7g.117611711C=CA1737387262CFTRc.3270C= (p.Phe1090=)
c.*2984C= (n.*2984C=)
c.3087C= (p.Phe1029=)
c.*1570C= (n.*1570C=)
c.*3094C= (n.*3094C=)
c.2844C= (p.Phe948=)
c.18C= (p.Phe6=)
c.861C= (p.Phe287=)
c.920C=
c.2052C= (p.Phe684=)
c.3180C= (p.Phe1060=)
c.95C=
c.3360C= (p.Phe1120=)
c.3027C= (p.Phe1009=)
7g.117611711C>GCA368992331CFTRc.3270C>G (p.Phe1090Leu)
c.*2984C>G (n.*2984C>G)
c.3087C>G (p.Phe1029Leu)
c.*1570C>G (n.*1570C>G)
c.*3094C>G (n.*3094C>G)
c.2844C>G (p.Phe948Leu)
c.18C>G (p.Phe6Leu)
c.861C>G (p.Phe287Leu)
c.920C>G
c.2052C>G (p.Phe684Leu)
c.3180C>G (p.Phe1060Leu)
c.95C>G
c.3360C>G (p.Phe1120Leu)
c.3027C>G (p.Phe1009Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117611711C>TCA457230053CFTRc.3270C>T (p.Phe1090=)
c.*2984C>T (n.*2984C>T)
c.3087C>T (p.Phe1029=)
c.*1570C>T (n.*1570C>T)
c.*3094C>T (n.*3094C>T)
c.2844C>T (p.Phe948=)
c.18C>T (p.Phe6=)
c.861C>T (p.Phe287=)
c.920C>T
c.2052C>T (p.Phe684=)
c.3180C>T (p.Phe1060=)
c.95C>T
c.3360C>T (p.Phe1120=)
c.3027C>T (p.Phe1009=)
 gnomAD v4
7g.117611712T>ACA368992334CFTRc.3271T>A (p.Leu1091Met)
c.*2985T>A (n.*2985T>A)
c.3088T>A (p.Leu1030Met)
c.*1571T>A (n.*1571T>A)
c.*3095T>A (n.*3095T>A)
c.2845T>A (p.Leu949Met)
c.19T>A (p.Leu7Met)
c.862T>A (p.Leu288Met)
c.921T>A
c.2053T>A (p.Leu685Met)
c.3181T>A (p.Leu1061Met)
c.96T>A
c.3361T>A (p.Leu1121Met)
c.3028T>A (p.Leu1010Met)
7g.117611712T>CCA457230054CFTRc.3271T>C (p.Leu1091=)
c.*2985T>C (n.*2985T>C)
c.3088T>C (p.Leu1030=)
c.*1571T>C (n.*1571T>C)
c.*3095T>C (n.*3095T>C)
c.2845T>C (p.Leu949=)
c.19T>C (p.Leu7=)
c.862T>C (p.Leu288=)
c.921T>C
c.2053T>C (p.Leu685=)
c.3181T>C (p.Leu1061=)
c.96T>C
c.3361T>C (p.Leu1121=)
c.3028T>C (p.Leu1010=)
7g.117611712T>GCA368992335CFTRc.3271T>G (p.Leu1091Val)
c.*2985T>G (n.*2985T>G)
c.3088T>G (p.Leu1030Val)
c.*1571T>G (n.*1571T>G)
c.*3095T>G (n.*3095T>G)
c.2845T>G (p.Leu949Val)
c.19T>G (p.Leu7Val)
c.862T>G (p.Leu288Val)
c.921T>G
c.2053T>G (p.Leu685Val)
c.3181T>G (p.Leu1061Val)
c.96T>G
c.3361T>G (p.Leu1121Val)
c.3028T>G (p.Leu1010Val)
7g.117611713T>ACA368992337CFTRc.3272T>A (p.Leu1091Ter)
c.*2986T>A (n.*2986T>A)
c.3089T>A (p.Leu1030Ter)
c.*1572T>A (n.*1572T>A)
c.*3096T>A (n.*3096T>A)
c.2846T>A (p.Leu949Ter)
c.20T>A (p.Leu7Ter)
c.863T>A (p.Leu288Ter)
c.922T>A
c.2054T>A (p.Leu685Ter)
c.3182T>A (p.Leu1061Ter)
c.97T>A
c.3362T>A (p.Leu1121Ter)
c.3029T>A (p.Leu1010Ter)
7g.117611713T>CCA368992338CFTRc.3272T>C (p.Leu1091Ser)
c.*2986T>C (n.*2986T>C)
c.3089T>C (p.Leu1030Ser)
c.*1572T>C (n.*1572T>C)
c.*3096T>C (n.*3096T>C)
c.2846T>C (p.Leu949Ser)
c.20T>C (p.Leu7Ser)
c.863T>C (p.Leu288Ser)
c.922T>C
c.2054T>C (p.Leu685Ser)
c.3182T>C (p.Leu1061Ser)
c.97T>C
c.3362T>C (p.Leu1121Ser)
c.3029T>C (p.Leu1010Ser)
7g.117611713T>GCA368992341CFTRc.3272T>G (p.Leu1091Trp)
c.*2986T>G (n.*2986T>G)
c.3089T>G (p.Leu1030Trp)
c.*1572T>G (n.*1572T>G)
c.*3096T>G (n.*3096T>G)
c.2846T>G (p.Leu949Trp)
c.20T>G (p.Leu7Trp)
c.863T>G (p.Leu288Trp)
c.922T>G
c.2054T>G (p.Leu685Trp)
c.3182T>G (p.Leu1061Trp)
c.97T>G
c.3362T>G (p.Leu1121Trp)
c.3029T>G (p.Leu1010Trp)
7g.117611714G>ACA457230055CFTRc.3273G>A (p.Leu1091=)
c.*2987G>A (n.*2987G>A)
c.3090G>A (p.Leu1030=)
c.*1573G>A (n.*1573G>A)
c.*3097G>A (n.*3097G>A)
c.2847G>A (p.Leu949=)
c.21G>A (p.Leu7=)
c.864G>A (p.Leu288=)
c.923G>A
c.2055G>A (p.Leu685=)
c.3183G>A (p.Leu1061=)
c.98G>A
c.3363G>A (p.Leu1121=)
c.3030G>A (p.Leu1010=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117611714G>CCA4451414CFTRc.3273G>C (p.Leu1091Phe)
c.*2987G>C (n.*2987G>C)
c.3090G>C (p.Leu1030Phe)
c.*1573G>C (n.*1573G>C)
c.*3097G>C (n.*3097G>C)
c.2847G>C (p.Leu949Phe)
c.21G>C (p.Leu7Phe)
c.864G>C (p.Leu288Phe)
c.923G>C
c.2055G>C (p.Leu685Phe)
c.3183G>C (p.Leu1061Phe)
c.98G>C
c.3363G>C (p.Leu1121Phe)
c.3030G>C (p.Leu1010Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117611714G=CA1737387266CFTRc.3273G= (p.Leu1091=)
c.*2987G= (n.*2987G=)
c.3090G= (p.Leu1030=)
c.*1573G= (n.*1573G=)
c.*3097G= (n.*3097G=)
c.2847G= (p.Leu949=)
c.21G= (p.Leu7=)
c.864G= (p.Leu288=)
c.923G=
c.2055G= (p.Leu685=)
c.3183G= (p.Leu1061=)
c.98G=
c.3363G= (p.Leu1121=)
c.3030G= (p.Leu1010=)
7g.117611714G>TCA368992343CFTRc.3273G>T (p.Leu1091Phe)
c.*2987G>T (n.*2987G>T)
c.3090G>T (p.Leu1030Phe)
c.*1573G>T (n.*1573G>T)
c.*3097G>T (n.*3097G>T)
c.2847G>T (p.Leu949Phe)
c.21G>T (p.Leu7Phe)
c.864G>T (p.Leu288Phe)
c.923G>T
c.2055G>T (p.Leu685Phe)
c.3183G>T (p.Leu1061Phe)
c.98G>T
c.3363G>T (p.Leu1121Phe)
c.3030G>T (p.Leu1010Phe)
 ClinVar dbSNP gnomAD v4
7g.117611715T>ACA368992345CFTRc.3274T>A (p.Tyr1092Asn)
c.*2988T>A (n.*2988T>A)
c.3091T>A (p.Tyr1031Asn)
c.*1574T>A (n.*1574T>A)
c.*3098T>A (n.*3098T>A)
c.2848T>A (p.Tyr950Asn)
c.22T>A (p.Tyr8Asn)
c.865T>A (p.Tyr289Asn)
c.924T>A
c.2056T>A (p.Tyr686Asn)
c.3184T>A (p.Tyr1062Asn)
c.99T>A
c.3364T>A (p.Tyr1122Asn)
c.3031T>A (p.Tyr1011Asn)
7g.117611715T>CCA4451415CFTRc.3274T>C (p.Tyr1092His)
c.*2988T>C (n.*2988T>C)
c.3091T>C (p.Tyr1031His)
c.*1574T>C (n.*1574T>C)
c.*3098T>C (n.*3098T>C)
c.2848T>C (p.Tyr950His)
c.22T>C (p.Tyr8His)
c.865T>C (p.Tyr289His)
c.924T>C
c.2056T>C (p.Tyr686His)
c.3184T>C (p.Tyr1062His)
c.99T>C
c.3364T>C (p.Tyr1122His)
c.3031T>C (p.Tyr1011His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611715T>GCA368992347CFTRc.3274T>G (p.Tyr1092Asp)
c.*2988T>G (n.*2988T>G)
c.3091T>G (p.Tyr1031Asp)
c.*1574T>G (n.*1574T>G)
c.*3098T>G (n.*3098T>G)
c.2848T>G (p.Tyr950Asp)
c.22T>G (p.Tyr8Asp)
c.865T>G (p.Tyr289Asp)
c.924T>G
c.2056T>G (p.Tyr686Asp)
c.3184T>G (p.Tyr1062Asp)
c.99T>G
c.3364T>G (p.Tyr1122Asp)
c.3031T>G (p.Tyr1011Asp)
7g.117611715T=CA1737387275CFTRc.3274T= (p.Tyr1092=)
c.*2988T= (n.*2988T=)
c.3091T= (p.Tyr1031=)
c.*1574T= (n.*1574T=)
c.*3098T= (n.*3098T=)
c.2848T= (p.Tyr950=)
c.22T= (p.Tyr8=)
c.865T= (p.Tyr289=)
c.924T=
c.2056T= (p.Tyr686=)
c.3184T= (p.Tyr1062=)
c.99T=
c.3364T= (p.Tyr1122=)
c.3031T= (p.Tyr1011=)
7g.117611716A=CA1737387289CFTRc.3275A= (p.Tyr1092=)
c.*2989A= (n.*2989A=)
c.3092A= (p.Tyr1031=)
c.*1575A= (n.*1575A=)
c.*3099A= (n.*3099A=)
c.2849A= (p.Tyr950=)
c.23A= (p.Tyr8=)
c.866A= (p.Tyr289=)
c.925A=
c.2057A= (p.Tyr686=)
c.3185A= (p.Tyr1062=)
c.100A=
c.3365A= (p.Tyr1122=)
c.3032A= (p.Tyr1011=)
7g.117611716A>CCA368992349CFTRc.3275A>C (p.Tyr1092Ser)
c.*2989A>C (n.*2989A>C)
c.3092A>C (p.Tyr1031Ser)
c.*1575A>C (n.*1575A>C)
c.*3099A>C (n.*3099A>C)
c.2849A>C (p.Tyr950Ser)
c.23A>C (p.Tyr8Ser)
c.866A>C (p.Tyr289Ser)
c.925A>C
c.2057A>C (p.Tyr686Ser)
c.3185A>C (p.Tyr1062Ser)
c.100A>C
c.3365A>C (p.Tyr1122Ser)
c.3032A>C (p.Tyr1011Ser)
7g.117611716A>GCA4451416CFTRc.3275A>G (p.Tyr1092Cys)
c.*2989A>G (n.*2989A>G)
c.3092A>G (p.Tyr1031Cys)
c.*1575A>G (n.*1575A>G)
c.*3099A>G (n.*3099A>G)
c.2849A>G (p.Tyr950Cys)
c.23A>G (p.Tyr8Cys)
c.866A>G (p.Tyr289Cys)
c.925A>G
c.2057A>G (p.Tyr686Cys)
c.3185A>G (p.Tyr1062Cys)
c.100A>G
c.3365A>G (p.Tyr1122Cys)
c.3032A>G (p.Tyr1011Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611716A>TCA368992351CFTRc.3275A>T (p.Tyr1092Phe)
c.*2989A>T (n.*2989A>T)
c.3092A>T (p.Tyr1031Phe)
c.*1575A>T (n.*1575A>T)
c.*3099A>T (n.*3099A>T)
c.2849A>T (p.Tyr950Phe)
c.23A>T (p.Tyr8Phe)
c.866A>T (p.Tyr289Phe)
c.925A>T
c.2057A>T (p.Tyr686Phe)
c.3185A>T (p.Tyr1062Phe)
c.100A>T
c.3365A>T (p.Tyr1122Phe)
c.3032A>T (p.Tyr1011Phe)
7g.117611717C>ACA269813CFTRc.3276C>A (p.Tyr1092Ter)
c.*2990C>A (n.*2990C>A)
c.3093C>A (p.Tyr1031Ter)
c.*1576C>A (n.*1576C>A)
c.*3100C>A (n.*3100C>A)
c.2850C>A (p.Tyr950Ter)
c.24C>A (p.Tyr8Ter)
c.867C>A (p.Tyr289Ter)
c.926C>A
c.2058C>A (p.Tyr686Ter)
c.3186C>A (p.Tyr1062Ter)
c.101C>A
c.3366C>A (p.Tyr1122Ter)
c.3033C>A (p.Tyr1011Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117611717C=CA1737387303CFTRc.3276C= (p.Tyr1092=)
c.*2990C= (n.*2990C=)
c.3093C= (p.Tyr1031=)
c.*1576C= (n.*1576C=)
c.*3100C= (n.*3100C=)
c.2850C= (p.Tyr950=)
c.24C= (p.Tyr8=)
c.867C= (p.Tyr289=)
c.926C=
c.2058C= (p.Tyr686=)
c.3186C= (p.Tyr1062=)
c.101C=
c.3366C= (p.Tyr1122=)
c.3033C= (p.Tyr1011=)
7g.117611717C>GCA269811CFTRc.3276C>G (p.Tyr1092Ter)
c.*2990C>G (n.*2990C>G)
c.3093C>G (p.Tyr1031Ter)
c.*1576C>G (n.*1576C>G)
c.*3100C>G (n.*3100C>G)
c.2850C>G (p.Tyr950Ter)
c.24C>G (p.Tyr8Ter)
c.867C>G (p.Tyr289Ter)
c.926C>G
c.2058C>G (p.Tyr686Ter)
c.3186C>G (p.Tyr1062Ter)
c.101C>G
c.3366C>G (p.Tyr1122Ter)
c.3033C>G (p.Tyr1011Ter)
 ClinVar dbSNP gnomAD v4
7g.117611717C>TCA457230056CFTRc.3276C>T (p.Tyr1092=)
c.*2990C>T (n.*2990C>T)
c.3093C>T (p.Tyr1031=)
c.*1576C>T (n.*1576C>T)
c.*3100C>T (n.*3100C>T)
c.2850C>T (p.Tyr950=)
c.24C>T (p.Tyr8=)
c.867C>T (p.Tyr289=)
c.926C>T
c.2058C>T (p.Tyr686=)
c.3186C>T (p.Tyr1062=)
c.101C>T
c.3366C>T (p.Tyr1122=)
c.3033C>T (p.Tyr1011=)
 dbSNP gnomAD v4
7g.117611718C>ACA368992353CFTRc.3277C>A (p.Leu1093Met)
c.*2991C>A (n.*2991C>A)
c.3094C>A (p.Leu1032Met)
c.*1577C>A (n.*1577C>A)
c.*3101C>A (n.*3101C>A)
c.2851C>A (p.Leu951Met)
c.25C>A (p.Leu9Met)
c.868C>A (p.Leu290Met)
c.927C>A
c.2059C>A (p.Leu687Met)
c.3187C>A (p.Leu1063Met)
c.102C>A
c.3367C>A (p.Leu1123Met)
c.3034C>A (p.Leu1012Met)
 gnomAD v4
7g.117611718C>GCA368992354CFTRc.3277C>G (p.Leu1093Val)
c.*2991C>G (n.*2991C>G)
c.3094C>G (p.Leu1032Val)
c.*1577C>G (n.*1577C>G)
c.*3101C>G (n.*3101C>G)
c.2851C>G (p.Leu951Val)
c.25C>G (p.Leu9Val)
c.868C>G (p.Leu290Val)
c.927C>G
c.2059C>G (p.Leu687Val)
c.3187C>G (p.Leu1063Val)
c.102C>G
c.3367C>G (p.Leu1123Val)
c.3034C>G (p.Leu1012Val)
 ClinVar dbSNP gnomAD v4
7g.117611718C>TCA457230057CFTRc.3277C>T (p.Leu1093=)
c.*2991C>T (n.*2991C>T)
c.3094C>T (p.Leu1032=)
c.*1577C>T (n.*1577C>T)
c.*3101C>T (n.*3101C>T)
c.2851C>T (p.Leu951=)
c.25C>T (p.Leu9=)
c.868C>T (p.Leu290=)
c.927C>T
c.2059C>T (p.Leu687=)
c.3187C>T (p.Leu1063=)
c.102C>T
c.3367C>T (p.Leu1123=)
c.3034C>T (p.Leu1012=)
7g.117611719T>ACA368992356CFTRc.3278T>A (p.Leu1093Gln)
c.*2992T>A (n.*2992T>A)
c.3095T>A (p.Leu1032Gln)
c.*1578T>A (n.*1578T>A)
c.*3102T>A (n.*3102T>A)
c.2852T>A (p.Leu951Gln)
c.26T>A (p.Leu9Gln)
c.869T>A (p.Leu290Gln)
c.928T>A
c.2060T>A (p.Leu687Gln)
c.3188T>A (p.Leu1063Gln)
c.103T>A
c.3368T>A (p.Leu1123Gln)
c.3035T>A (p.Leu1012Gln)
7g.117611719T>CCA327121CFTRc.3278T>C (p.Leu1093Pro)
c.*2992T>C (n.*2992T>C)
c.3095T>C (p.Leu1032Pro)
c.*1578T>C (n.*1578T>C)
c.*3102T>C (n.*3102T>C)
c.2852T>C (p.Leu951Pro)
c.26T>C (p.Leu9Pro)
c.869T>C (p.Leu290Pro)
c.928T>C
c.2060T>C (p.Leu687Pro)
c.3188T>C (p.Leu1063Pro)
c.103T>C
c.3368T>C (p.Leu1123Pro)
c.3035T>C (p.Leu1012Pro)
 ClinVar dbSNP
7g.117611719T>GCA368992357CFTRc.3278T>G (p.Leu1093Arg)
c.*2992T>G (n.*2992T>G)
c.3095T>G (p.Leu1032Arg)
c.*1578T>G (n.*1578T>G)
c.*3102T>G (n.*3102T>G)
c.2852T>G (p.Leu951Arg)
c.26T>G (p.Leu9Arg)
c.869T>G (p.Leu290Arg)
c.928T>G
c.2060T>G (p.Leu687Arg)
c.3188T>G (p.Leu1063Arg)
c.103T>G
c.3368T>G (p.Leu1123Arg)
c.3035T>G (p.Leu1012Arg)
7g.117611719T=CA1737387311CFTRc.3278T= (p.Leu1093=)
c.*2992T= (n.*2992T=)
c.3095T= (p.Leu1032=)
c.*1578T= (n.*1578T=)
c.*3102T= (n.*3102T=)
c.2852T= (p.Leu951=)
c.26T= (p.Leu9=)
c.869T= (p.Leu290=)
c.928T=
c.2060T= (p.Leu687=)
c.3188T= (p.Leu1063=)
c.103T=
c.3368T= (p.Leu1123=)
c.3035T= (p.Leu1012=)
7g.117611720G>ACA457230058CFTRc.3279G>A (p.Leu1093=)
c.*2993G>A (n.*2993G>A)
c.3096G>A (p.Leu1032=)
c.*1579G>A (n.*1579G>A)
c.*3103G>A (n.*3103G>A)
c.2853G>A (p.Leu951=)
c.27G>A (p.Leu9=)
c.870G>A (p.Leu290=)
c.929G>A
c.2061G>A (p.Leu687=)
c.3189G>A (p.Leu1063=)
c.104G>A
c.3369G>A (p.Leu1123=)
c.3036G>A (p.Leu1012=)
7g.117611720G>CCA457230060CFTRc.3279G>C (p.Leu1093=)
c.*2993G>C (n.*2993G>C)
c.3096G>C (p.Leu1032=)
c.*1579G>C (n.*1579G>C)
c.*3103G>C (n.*3103G>C)
c.2853G>C (p.Leu951=)
c.27G>C (p.Leu9=)
c.870G>C (p.Leu290=)
c.929G>C
c.2061G>C (p.Leu687=)
c.3189G>C (p.Leu1063=)
c.104G>C
c.3369G>C (p.Leu1123=)
c.3036G>C (p.Leu1012=)
7g.117611720G>TCA457230059CFTRc.3279G>T (p.Leu1093=)
c.*2993G>T (n.*2993G>T)
c.3096G>T (p.Leu1032=)
c.*1579G>T (n.*1579G>T)
c.*3103G>T (n.*3103G>T)
c.2853G>T (p.Leu951=)
c.27G>T (p.Leu9=)
c.870G>T (p.Leu290=)
c.929G>T
c.2061G>T (p.Leu687=)
c.3189G>T (p.Leu1063=)
c.104G>T
c.3369G>T (p.Leu1123=)
c.3036G>T (p.Leu1012=)
 ClinVar
7g.117611721T>ACA368992360CFTRc.3280T>A (p.Ser1094Thr)
c.*2994T>A (n.*2994T>A)
c.3097T>A (p.Ser1033Thr)
c.*1580T>A (n.*1580T>A)
c.*3104T>A (n.*3104T>A)
c.2854T>A (p.Ser952Thr)
c.28T>A (p.Ser10Thr)
c.871T>A (p.Ser291Thr)
c.930T>A
c.2062T>A (p.Ser688Thr)
c.3190T>A (p.Ser1064Thr)
c.105T>A
c.3370T>A (p.Ser1124Thr)
c.3037T>A (p.Ser1013Thr)
7g.117611721T>CCA368992363CFTRc.3280T>C (p.Ser1094Pro)
c.*2994T>C (n.*2994T>C)
c.3097T>C (p.Ser1033Pro)
c.*1580T>C (n.*1580T>C)
c.*3104T>C (n.*3104T>C)
c.2854T>C (p.Ser952Pro)
c.28T>C (p.Ser10Pro)
c.871T>C (p.Ser291Pro)
c.930T>C
c.2062T>C (p.Ser688Pro)
c.3190T>C (p.Ser1064Pro)
c.105T>C
c.3370T>C (p.Ser1124Pro)
c.3037T>C (p.Ser1013Pro)
 ClinVar
7g.117611721T>GCA368992361CFTRc.3280T>G (p.Ser1094Ala)
c.*2994T>G (n.*2994T>G)
c.3097T>G (p.Ser1033Ala)
c.*1580T>G (n.*1580T>G)
c.*3104T>G (n.*3104T>G)
c.2854T>G (p.Ser952Ala)
c.28T>G (p.Ser10Ala)
c.871T>G (p.Ser291Ala)
c.930T>G
c.2062T>G (p.Ser688Ala)
c.3190T>G (p.Ser1064Ala)
c.105T>G
c.3370T>G (p.Ser1124Ala)
c.3037T>G (p.Ser1013Ala)
7g.117611721_117612076delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCCCA1737387315CFTRc.3280_3367+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.*2994_*3081+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.3097_3184+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.*1580_*1667+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.*3104_*3191+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.2854_2941+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.28_115+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.871_958+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.930_1017+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.2062_2149+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.3190_3277+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.105_192+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.3370_3457+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.3037_3124+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
7g.117611722C>ACA368992366CFTRc.3281C>A (p.Ser1094Ter)
c.*2995C>A (n.*2995C>A)
c.3098C>A (p.Ser1033Ter)
c.*1581C>A (n.*1581C>A)
c.*3105C>A (n.*3105C>A)
c.2855C>A (p.Ser952Ter)
c.29C>A (p.Ser10Ter)
c.872C>A (p.Ser291Ter)
c.931C>A
c.2063C>A (p.Ser688Ter)
c.3191C>A (p.Ser1064Ter)
c.106C>A
c.3371C>A (p.Ser1124Ter)
c.3038C>A (p.Ser1013Ter)
7g.117611722C>GCA368992368CFTRc.3281C>G (p.Ser1094Ter)
c.*2995C>G (n.*2995C>G)
c.3098C>G (p.Ser1033Ter)
c.*1581C>G (n.*1581C>G)
c.*3105C>G (n.*3105C>G)
c.2855C>G (p.Ser952Ter)
c.29C>G (p.Ser10Ter)
c.872C>G (p.Ser291Ter)
c.931C>G
c.2063C>G (p.Ser688Ter)
c.3191C>G (p.Ser1064Ter)
c.106C>G
c.3371C>G (p.Ser1124Ter)
c.3038C>G (p.Ser1013Ter)
 ClinVar
7g.117611722C>TCA368992370CFTRc.3281C>T (p.Ser1094Leu)
c.*2995C>T (n.*2995C>T)
c.3098C>T (p.Ser1033Leu)
c.*1581C>T (n.*1581C>T)
c.*3105C>T (n.*3105C>T)
c.2855C>T (p.Ser952Leu)
c.29C>T (p.Ser10Leu)
c.872C>T (p.Ser291Leu)
c.931C>T
c.2063C>T (p.Ser688Leu)
c.3191C>T (p.Ser1064Leu)
c.106C>T
c.3371C>T (p.Ser1124Leu)
c.3038C>T (p.Ser1013Leu)
7g.117611722_117612076delinsTGTTAACA327125CFTRc.3281_3367+268delinsTGTTAA
c.*2995_*3081+268delinsTGTTAA
c.3098_3184+268delinsTGTTAA
c.*1581_*1667+268delinsTGTTAA
c.*3105_*3191+268delinsTGTTAA
c.2855_2941+268delinsTGTTAA
c.29_115+268delinsTGTTAA
c.872_958+268delinsTGTTAA
c.931_1017+268delinsTGTTAA
c.2063_2149+268delinsTGTTAA
c.3191_3277+268delinsTGTTAA
c.106_192+268delinsTGTTAA
c.3371_3457+268delinsTGTTAA
c.3038_3124+268delinsTGTTAA
 ClinVar dbSNP
7g.117611723A=CA1737387330CFTRc.3282A= (p.Ser1094=)
c.*2996A= (n.*2996A=)
c.3099A= (p.Ser1033=)
c.*1582A= (n.*1582A=)
c.*3106A= (n.*3106A=)
c.2856A= (p.Ser952=)
c.30A= (p.Ser10=)
c.873A= (p.Ser291=)
c.932A=
c.2064A= (p.Ser688=)
c.3192A= (p.Ser1064=)
c.107A=
c.3372A= (p.Ser1124=)
c.3039A= (p.Ser1013=)
7g.117611723A>CCA457230061CFTRc.3282A>C (p.Ser1094=)
c.*2996A>C (n.*2996A>C)
c.3099A>C (p.Ser1033=)
c.*1582A>C (n.*1582A>C)
c.*3106A>C (n.*3106A>C)
c.2856A>C (p.Ser952=)
c.30A>C (p.Ser10=)
c.873A>C (p.Ser291=)
c.932A>C
c.2064A>C (p.Ser688=)
c.3192A>C (p.Ser1064=)
c.107A>C
c.3372A>C (p.Ser1124=)
c.3039A>C (p.Ser1013=)
 gnomAD v4
7g.117611723A>GCA4451417CFTRc.3282A>G (p.Ser1094=)
c.*2996A>G (n.*2996A>G)
c.3099A>G (p.Ser1033=)
c.*1582A>G (n.*1582A>G)
c.*3106A>G (n.*3106A>G)
c.2856A>G (p.Ser952=)
c.30A>G (p.Ser10=)
c.873A>G (p.Ser291=)
c.932A>G
c.2064A>G (p.Ser688=)
c.3192A>G (p.Ser1064=)
c.107A>G
c.3372A>G (p.Ser1124=)
c.3039A>G (p.Ser1013=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611723A>TCA457230062CFTRc.3282A>T (p.Ser1094=)
c.*2996A>T (n.*2996A>T)
c.3099A>T (p.Ser1033=)
c.*1582A>T (n.*1582A>T)
c.*3106A>T (n.*3106A>T)
c.2856A>T (p.Ser952=)
c.30A>T (p.Ser10=)
c.873A>T (p.Ser291=)
c.932A>T
c.2064A>T (p.Ser688=)
c.3192A>T (p.Ser1064=)
c.107A>T
c.3372A>T (p.Ser1124=)
c.3039A>T (p.Ser1013=)
7g.117611724A>CCA368992374CFTRc.3283A>C (p.Thr1095Pro)
c.*2997A>C (n.*2997A>C)
c.3100A>C (p.Thr1034Pro)
c.*1583A>C (n.*1583A>C)
c.*3107A>C (n.*3107A>C)
c.2857A>C (p.Thr953Pro)
c.31A>C (p.Thr11Pro)
c.874A>C (p.Thr292Pro)
c.933A>C
c.2065A>C (p.Thr689Pro)
c.3193A>C (p.Thr1065Pro)
c.108A>C
c.3373A>C (p.Thr1125Pro)
c.3040A>C (p.Thr1014Pro)
7g.117611724A>GCA368992375CFTRc.3283A>G (p.Thr1095Ala)
c.*2997A>G (n.*2997A>G)
c.3100A>G (p.Thr1034Ala)
c.*1583A>G (n.*1583A>G)
c.*3107A>G (n.*3107A>G)
c.2857A>G (p.Thr953Ala)
c.31A>G (p.Thr11Ala)
c.874A>G (p.Thr292Ala)
c.933A>G
c.2065A>G (p.Thr689Ala)
c.3193A>G (p.Thr1065Ala)
c.108A>G
c.3373A>G (p.Thr1125Ala)
c.3040A>G (p.Thr1014Ala)
7g.117611724A>TCA368992377CFTRc.3283A>T (p.Thr1095Ser)
c.*2997A>T (n.*2997A>T)
c.3100A>T (p.Thr1034Ser)
c.*1583A>T (n.*1583A>T)
c.*3107A>T (n.*3107A>T)
c.2857A>T (p.Thr953Ser)
c.31A>T (p.Thr11Ser)
c.874A>T (p.Thr292Ser)
c.933A>T
c.2065A>T (p.Thr689Ser)
c.3193A>T (p.Thr1065Ser)
c.108A>T
c.3373A>T (p.Thr1125Ser)
c.3040A>T (p.Thr1014Ser)
7g.117611725C>ACA368992378CFTRc.3284C>A (p.Thr1095Lys)
c.*2998C>A (n.*2998C>A)
c.3101C>A (p.Thr1034Lys)
c.*1584C>A (n.*1584C>A)
c.*3108C>A (n.*3108C>A)
c.2858C>A (p.Thr953Lys)
c.32C>A (p.Thr11Lys)
c.875C>A (p.Thr292Lys)
c.934C>A
c.2066C>A (p.Thr689Lys)
c.3194C>A (p.Thr1065Lys)
c.109C>A
c.3374C>A (p.Thr1125Lys)
c.3041C>A (p.Thr1014Lys)
7g.117611725C>GCA368992380CFTRc.3284C>G (p.Thr1095Arg)
c.*2998C>G (n.*2998C>G)
c.3101C>G (p.Thr1034Arg)
c.*1584C>G (n.*1584C>G)
c.*3108C>G (n.*3108C>G)
c.2858C>G (p.Thr953Arg)
c.32C>G (p.Thr11Arg)
c.875C>G (p.Thr292Arg)
c.934C>G
c.2066C>G (p.Thr689Arg)
c.3194C>G (p.Thr1065Arg)
c.109C>G
c.3374C>G (p.Thr1125Arg)
c.3041C>G (p.Thr1014Arg)
7g.117611725C>TCA368992381CFTRc.3284C>T (p.Thr1095Ile)
c.*2998C>T (n.*2998C>T)
c.3101C>T (p.Thr1034Ile)
c.*1584C>T (n.*1584C>T)
c.*3108C>T (n.*3108C>T)
c.2858C>T (p.Thr953Ile)
c.32C>T (p.Thr11Ile)
c.875C>T (p.Thr292Ile)
c.934C>T
c.2066C>T (p.Thr689Ile)
c.3194C>T (p.Thr1065Ile)
c.109C>T
c.3374C>T (p.Thr1125Ile)
c.3041C>T (p.Thr1014Ile)
7g.117611726A=CA1737387344CFTRc.3285A= (p.Thr1095=)
c.*2999A= (n.*2999A=)
c.3102A= (p.Thr1034=)
c.*1585A= (n.*1585A=)
c.*3109A= (n.*3109A=)
c.2859A= (p.Thr953=)
c.33A= (p.Thr11=)
c.876A= (p.Thr292=)
c.935A=
c.2067A= (p.Thr689=)
c.3195A= (p.Thr1065=)
c.110A=
c.3375A= (p.Thr1125=)
c.3042A= (p.Thr1014=)
7g.117611726A>CCA457230063CFTRc.3285A>C (p.Thr1095=)
c.*2999A>C (n.*2999A>C)
c.3102A>C (p.Thr1034=)
c.*1585A>C (n.*1585A>C)
c.*3109A>C (n.*3109A>C)
c.2859A>C (p.Thr953=)
c.33A>C (p.Thr11=)
c.876A>C (p.Thr292=)
c.935A>C
c.2067A>C (p.Thr689=)
c.3195A>C (p.Thr1065=)
c.110A>C
c.3375A>C (p.Thr1125=)
c.3042A>C (p.Thr1014=)
7g.117611726A>GCA457230064CFTRc.3285A>G (p.Thr1095=)
c.*2999A>G (n.*2999A>G)
c.3102A>G (p.Thr1034=)
c.*1585A>G (n.*1585A>G)
c.*3109A>G (n.*3109A>G)
c.2859A>G (p.Thr953=)
c.33A>G (p.Thr11=)
c.876A>G (p.Thr292=)
c.935A>G
c.2067A>G (p.Thr689=)
c.3195A>G (p.Thr1065=)
c.110A>G
c.3375A>G (p.Thr1125=)
c.3042A>G (p.Thr1014=)
 ClinVar gnomAD v4
7g.117611726A>TCA241893CFTRc.3285A>T (p.Thr1095=)
c.*2999A>T (n.*2999A>T)
c.3102A>T (p.Thr1034=)
c.*1585A>T (n.*1585A>T)
c.*3109A>T (n.*3109A>T)
c.2859A>T (p.Thr953=)
c.33A>T (p.Thr11=)
c.876A>T (p.Thr292=)
c.935A>T
c.2067A>T (p.Thr689=)
c.3195A>T (p.Thr1065=)
c.110A>T
c.3375A>T (p.Thr1125=)
c.3042A>T (p.Thr1014=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611727C>ACA368992385CFTRc.3286C>A (p.Leu1096Met)
c.*3000C>A (n.*3000C>A)
c.3103C>A (p.Leu1035Met)
c.*1586C>A (n.*1586C>A)
c.*3110C>A (n.*3110C>A)
c.2860C>A (p.Leu954Met)
c.34C>A (p.Leu12Met)
c.877C>A (p.Leu293Met)
c.936C>A
c.2068C>A (p.Leu690Met)
c.3196C>A (p.Leu1066Met)
c.111C>A
c.3376C>A (p.Leu1126Met)
c.3043C>A (p.Leu1015Met)
7g.117611727C=CA1737387359CFTRc.3286C= (p.Leu1096=)
c.*3000C= (n.*3000C=)
c.3103C= (p.Leu1035=)
c.*1586C= (n.*1586C=)
c.*3110C= (n.*3110C=)
c.2860C= (p.Leu954=)
c.34C= (p.Leu12=)
c.877C= (p.Leu293=)
c.936C=
c.2068C= (p.Leu690=)
c.3196C= (p.Leu1066=)
c.111C=
c.3376C= (p.Leu1126=)
c.3043C= (p.Leu1015=)
7g.117611727C>GCA368992386CFTRc.3286C>G (p.Leu1096Val)
c.*3000C>G (n.*3000C>G)
c.3103C>G (p.Leu1035Val)
c.*1586C>G (n.*1586C>G)
c.*3110C>G (n.*3110C>G)
c.2860C>G (p.Leu954Val)
c.34C>G (p.Leu12Val)
c.877C>G (p.Leu293Val)
c.936C>G
c.2068C>G (p.Leu690Val)
c.3196C>G (p.Leu1066Val)
c.111C>G
c.3376C>G (p.Leu1126Val)
c.3043C>G (p.Leu1015Val)
7g.117611727C>TCA164966615CFTRc.3286C>T (p.Leu1096=)
c.*3000C>T (n.*3000C>T)
c.3103C>T (p.Leu1035=)
c.*1586C>T (n.*1586C>T)
c.*3110C>T (n.*3110C>T)
c.2860C>T (p.Leu954=)
c.34C>T (p.Leu12=)
c.877C>T (p.Leu293=)
c.936C>T
c.2068C>T (p.Leu690=)
c.3196C>T (p.Leu1066=)
c.111C>T
c.3376C>T (p.Leu1126=)
c.3043C>T (p.Leu1015=)
 ClinVar dbSNP gnomAD v4
7g.117611727_117611728delinsCTCA1737387356CFTRc.3286_3287delinsCT (p.Leu1096=)
c.*3000_*3001delinsCT (n.*3000_*3001delinsCT)
c.3103_3104delinsCT (p.Leu1035=)
c.*1586_*1587delinsCT (n.*1586_*1587delinsCT)
c.*3110_*3111delinsCT (n.*3110_*3111delinsCT)
c.2860_2861delinsCT (p.Leu954=)
c.34_35delinsCT (p.Leu12=)
c.877_878delinsCT (p.Leu293=)
c.936_937delinsCT
c.2068_2069delinsCT (p.Leu690=)
c.3196_3197delinsCT (p.Leu1066=)
c.111_112delinsCT
c.3376_3377delinsCT (p.Leu1126=)
c.3043_3044delinsCT (p.Leu1015=)
7g.117611728delCA327126CFTRc.3287del (p.Leu1096ArgfsTer6)
c.*3001del (n.*3001del)
c.3104del (p.Leu1035ArgfsTer6)
c.*1587del (n.*1587del)
c.*3111del (n.*3111del)
c.2861del (p.Leu954ArgfsTer6)
c.35del (p.Leu12ArgfsTer6)
c.878del (p.Leu293ArgfsTer6)
c.937del
c.2069del (p.Leu690ArgfsTer6)
c.3197del (p.Leu1066ArgfsTer6)
c.112del
c.3377del (p.Leu1126ArgfsTer6)
c.3044del (p.Leu1015ArgfsTer6)
 ClinVar dbSNP
7g.117611728T>ACA368992392CFTRc.3287T>A (p.Leu1096Gln)
c.*3001T>A (n.*3001T>A)
c.3104T>A (p.Leu1035Gln)
c.*1587T>A (n.*1587T>A)
c.*3111T>A (n.*3111T>A)
c.2861T>A (p.Leu954Gln)
c.35T>A (p.Leu12Gln)
c.878T>A (p.Leu293Gln)
c.937T>A
c.2069T>A (p.Leu690Gln)
c.3197T>A (p.Leu1066Gln)
c.112T>A
c.3377T>A (p.Leu1126Gln)
c.3044T>A (p.Leu1015Gln)
7g.117611728T>CCA368992389CFTRc.3287T>C (p.Leu1096Pro)
c.*3001T>C (n.*3001T>C)
c.3104T>C (p.Leu1035Pro)
c.*1587T>C (n.*1587T>C)
c.*3111T>C (n.*3111T>C)
c.2861T>C (p.Leu954Pro)
c.35T>C (p.Leu12Pro)
c.878T>C (p.Leu293Pro)
c.937T>C
c.2069T>C (p.Leu690Pro)
c.3197T>C (p.Leu1066Pro)
c.112T>C
c.3377T>C (p.Leu1126Pro)
c.3044T>C (p.Leu1015Pro)
7g.117611728T>GCA164966621CFTRc.3287T>G (p.Leu1096Arg)
c.*3001T>G (n.*3001T>G)
c.3104T>G (p.Leu1035Arg)
c.*1587T>G (n.*1587T>G)
c.*3111T>G (n.*3111T>G)
c.2861T>G (p.Leu954Arg)
c.35T>G (p.Leu12Arg)
c.878T>G (p.Leu293Arg)
c.937T>G
c.2069T>G (p.Leu690Arg)
c.3197T>G (p.Leu1066Arg)
c.112T>G
c.3377T>G (p.Leu1126Arg)
c.3044T>G (p.Leu1015Arg)
 dbSNP gnomAD v4
7g.117611728T=CA1737387370CFTRc.3287T= (p.Leu1096=)
c.*3001T= (n.*3001T=)
c.3104T= (p.Leu1035=)
c.*1587T= (n.*1587T=)
c.*3111T= (n.*3111T=)
c.2861T= (p.Leu954=)
c.35T= (p.Leu12=)
c.878T= (p.Leu293=)
c.937T=
c.2069T= (p.Leu690=)
c.3197T= (p.Leu1066=)
c.112T=
c.3377T= (p.Leu1126=)
c.3044T= (p.Leu1015=)
7g.117611729G>ACA164966630CFTRc.3288G>A (p.Leu1096=)
c.*3002G>A (n.*3002G>A)
c.3105G>A (p.Leu1035=)
c.*1588G>A (n.*1588G>A)
c.*3112G>A (n.*3112G>A)
c.2862G>A (p.Leu954=)
c.36G>A (p.Leu12=)
c.879G>A (p.Leu293=)
c.938G>A
c.2070G>A (p.Leu690=)
c.3198G>A (p.Leu1066=)
c.113G>A
c.3378G>A (p.Leu1126=)
c.3045G>A (p.Leu1015=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117611729G>CCA457230065CFTRc.3288G>C (p.Leu1096=)
c.*3002G>C (n.*3002G>C)
c.3105G>C (p.Leu1035=)
c.*1588G>C (n.*1588G>C)
c.*3112G>C (n.*3112G>C)
c.2862G>C (p.Leu954=)
c.36G>C (p.Leu12=)
c.879G>C (p.Leu293=)
c.938G>C
c.2070G>C (p.Leu690=)
c.3198G>C (p.Leu1066=)
c.113G>C
c.3378G>C (p.Leu1126=)
c.3045G>C (p.Leu1015=)
7g.117611729G=CA1737387375CFTRc.3288G= (p.Leu1096=)
c.*3002G= (n.*3002G=)
c.3105G= (p.Leu1035=)
c.*1588G= (n.*1588G=)
c.*3112G= (n.*3112G=)
c.2862G= (p.Leu954=)
c.36G= (p.Leu12=)
c.879G= (p.Leu293=)
c.938G=
c.2070G= (p.Leu690=)
c.3198G= (p.Leu1066=)
c.113G=
c.3378G= (p.Leu1126=)
c.3045G= (p.Leu1015=)
7g.117611729G>TCA457230066CFTRc.3288G>T (p.Leu1096=)
c.*3002G>T (n.*3002G>T)
c.3105G>T (p.Leu1035=)
c.*1588G>T (n.*1588G>T)
c.*3112G>T (n.*3112G>T)
c.2862G>T (p.Leu954=)
c.36G>T (p.Leu12=)
c.879G>T (p.Leu293=)
c.938G>T
c.2070G>T (p.Leu690=)
c.3198G>T (p.Leu1066=)
c.113G>T
c.3378G>T (p.Leu1126=)
c.3045G>T (p.Leu1015=)
 ClinVar dbSNP gnomAD v4
7g.117611730C>ACA368992394CFTRc.3289C>A (p.Arg1097Ser)
c.*3003C>A (n.*3003C>A)
c.3106C>A (p.Arg1036Ser)
c.*1589C>A (n.*1589C>A)
c.*3113C>A (n.*3113C>A)
c.2863C>A (p.Arg955Ser)
c.37C>A (p.Arg13Ser)
c.880C>A (p.Arg294Ser)
c.939C>A
c.2071C>A (p.Arg691Ser)
c.3199C>A (p.Arg1067Ser)
c.114C>A
c.3379C>A (p.Arg1127Ser)
c.3046C>A (p.Arg1016Ser)
7g.117611730C=CA1737387378CFTRc.3289C= (p.Arg1097=)
c.*3003C= (n.*3003C=)
c.3106C= (p.Arg1036=)
c.*1589C= (n.*1589C=)
c.*3113C= (n.*3113C=)
c.2863C= (p.Arg955=)
c.37C= (p.Arg13=)
c.880C= (p.Arg294=)
c.939C=
c.2071C= (p.Arg691=)
c.3199C= (p.Arg1067=)
c.114C=
c.3379C= (p.Arg1127=)
c.3046C= (p.Arg1016=)
7g.117611730C>GCA368992396CFTRc.3289C>G (p.Arg1097Gly)
c.*3003C>G (n.*3003C>G)
c.3106C>G (p.Arg1036Gly)
c.*1589C>G (n.*1589C>G)
c.*3113C>G (n.*3113C>G)
c.2863C>G (p.Arg955Gly)
c.37C>G (p.Arg13Gly)
c.880C>G (p.Arg294Gly)
c.939C>G
c.2071C>G (p.Arg691Gly)
c.3199C>G (p.Arg1067Gly)
c.114C>G
c.3379C>G (p.Arg1127Gly)
c.3046C>G (p.Arg1016Gly)
 gnomAD v4
7g.117611730C>TCA4451418CFTRc.3289C>T (p.Arg1097Cys)
c.*3003C>T (n.*3003C>T)
c.3106C>T (p.Arg1036Cys)
c.*1589C>T (n.*1589C>T)
c.*3113C>T (n.*3113C>T)
c.2863C>T (p.Arg955Cys)
c.37C>T (p.Arg13Cys)
c.880C>T (p.Arg294Cys)
c.939C>T
c.2071C>T (p.Arg691Cys)
c.3199C>T (p.Arg1067Cys)
c.114C>T
c.3379C>T (p.Arg1127Cys)
c.3046C>T (p.Arg1016Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117611731G>ACA4451419CFTRc.3290G>A (p.Arg1097His)
c.*3004G>A (n.*3004G>A)
c.3107G>A (p.Arg1036His)
c.*1590G>A (n.*1590G>A)
c.*3114G>A (n.*3114G>A)
c.2864G>A (p.Arg955His)
c.38G>A (p.Arg13His)
c.881G>A (p.Arg294His)
c.940G>A
c.2072G>A (p.Arg691His)
c.3200G>A (p.Arg1067His)
c.115G>A
c.3380G>A (p.Arg1127His)
c.3047G>A (p.Arg1016His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611731G>CCA368992400CFTRc.3290G>C (p.Arg1097Pro)
c.*3004G>C (n.*3004G>C)
c.3107G>C (p.Arg1036Pro)
c.*1590G>C (n.*1590G>C)
c.*3114G>C (n.*3114G>C)
c.2864G>C (p.Arg955Pro)
c.38G>C (p.Arg13Pro)
c.881G>C (p.Arg294Pro)
c.940G>C
c.2072G>C (p.Arg691Pro)
c.3200G>C (p.Arg1067Pro)
c.115G>C
c.3380G>C (p.Arg1127Pro)
c.3047G>C (p.Arg1016Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117611731G=CA1737387388CFTRc.3290G= (p.Arg1097=)
c.*3004G= (n.*3004G=)
c.3107G= (p.Arg1036=)
c.*1590G= (n.*1590G=)
c.*3114G= (n.*3114G=)
c.2864G= (p.Arg955=)
c.38G= (p.Arg13=)
c.881G= (p.Arg294=)
c.940G=
c.2072G= (p.Arg691=)
c.3200G= (p.Arg1067=)
c.115G=
c.3380G= (p.Arg1127=)
c.3047G= (p.Arg1016=)
7g.117611731G>TCA368992402CFTRc.3290G>T (p.Arg1097Leu)
c.*3004G>T (n.*3004G>T)
c.3107G>T (p.Arg1036Leu)
c.*1590G>T (n.*1590G>T)
c.*3114G>T (n.*3114G>T)
c.2864G>T (p.Arg955Leu)
c.38G>T (p.Arg13Leu)
c.881G>T (p.Arg294Leu)
c.940G>T
c.2072G>T (p.Arg691Leu)
c.3200G>T (p.Arg1067Leu)
c.115G>T
c.3380G>T (p.Arg1127Leu)
c.3047G>T (p.Arg1016Leu)
 gnomAD v4
7g.117611732delCA2695208437CFTRc.3291del (p.Trp1098GlyfsTer4)
c.*3005del (n.*3005del)
c.3108del (p.Trp1037GlyfsTer4)
c.*1591del (n.*1591del)
c.*3115del (n.*3115del)
c.2865del (p.Trp956GlyfsTer4)
c.39del (p.Trp14GlyfsTer4)
c.882del (p.Trp295GlyfsTer4)
c.941del
c.2073del (p.Trp692GlyfsTer4)
c.3201del (p.Trp1068GlyfsTer4)
c.116del
c.3381del (p.Trp1128GlyfsTer4)
c.3048del (p.Trp1017GlyfsTer4)
7g.117611732C>ACA457230067CFTRc.3291C>A (p.Arg1097=)
c.*3005C>A (n.*3005C>A)
c.3108C>A (p.Arg1036=)
c.*1591C>A (n.*1591C>A)
c.*3115C>A (n.*3115C>A)
c.2865C>A (p.Arg955=)
c.39C>A (p.Arg13=)
c.882C>A (p.Arg294=)
c.941C>A
c.2073C>A (p.Arg691=)
c.3201C>A (p.Arg1067=)
c.116C>A
c.3381C>A (p.Arg1127=)
c.3048C>A (p.Arg1016=)
7g.117611732C>GCA457230069CFTRc.3291C>G (p.Arg1097=)
c.*3005C>G (n.*3005C>G)
c.3108C>G (p.Arg1036=)
c.*1591C>G (n.*1591C>G)
c.*3115C>G (n.*3115C>G)
c.2865C>G (p.Arg955=)
c.39C>G (p.Arg13=)
c.882C>G (p.Arg294=)
c.941C>G
c.2073C>G (p.Arg691=)
c.3201C>G (p.Arg1067=)
c.116C>G
c.3381C>G (p.Arg1127=)
c.3048C>G (p.Arg1016=)
7g.117611732C>TCA457230068CFTRc.3291C>T (p.Arg1097=)
c.*3005C>T (n.*3005C>T)
c.3108C>T (p.Arg1036=)
c.*1591C>T (n.*1591C>T)
c.*3115C>T (n.*3115C>T)
c.2865C>T (p.Arg955=)
c.39C>T (p.Arg13=)
c.882C>T (p.Arg294=)
c.941C>T
c.2073C>T (p.Arg691=)
c.3201C>T (p.Arg1067=)
c.116C>T
c.3381C>T (p.Arg1127=)
c.3048C>T (p.Arg1016=)
7g.117611733T>ACA368992404CFTRc.3292T>A (p.Trp1098Arg)
c.*3006T>A (n.*3006T>A)
c.3109T>A (p.Trp1037Arg)
c.*1592T>A (n.*1592T>A)
c.*3116T>A (n.*3116T>A)
c.2866T>A (p.Trp956Arg)
c.40T>A (p.Trp14Arg)
c.883T>A (p.Trp295Arg)
c.942T>A
c.2074T>A (p.Trp692Arg)
c.3202T>A (p.Trp1068Arg)
c.117T>A
c.3382T>A (p.Trp1128Arg)
c.3049T>A (p.Trp1017Arg)
7g.117611733T>CCA327130CFTRc.3292T>C (p.Trp1098Arg)
c.*3006T>C (n.*3006T>C)
c.3109T>C (p.Trp1037Arg)
c.*1592T>C (n.*1592T>C)
c.*3116T>C (n.*3116T>C)
c.2866T>C (p.Trp956Arg)
c.40T>C (p.Trp14Arg)
c.883T>C (p.Trp295Arg)
c.942T>C
c.2074T>C (p.Trp692Arg)
c.3202T>C (p.Trp1068Arg)
c.117T>C
c.3382T>C (p.Trp1128Arg)
c.3049T>C (p.Trp1017Arg)
 ClinVar dbSNP gnomAD v4
7g.117611733T>GCA368992407CFTRc.3292T>G (p.Trp1098Gly)
c.*3006T>G (n.*3006T>G)
c.3109T>G (p.Trp1037Gly)
c.*1592T>G (n.*1592T>G)
c.*3116T>G (n.*3116T>G)
c.2866T>G (p.Trp956Gly)
c.40T>G (p.Trp14Gly)
c.883T>G (p.Trp295Gly)
c.942T>G
c.2074T>G (p.Trp692Gly)
c.3202T>G (p.Trp1068Gly)
c.117T>G
c.3382T>G (p.Trp1128Gly)
c.3049T>G (p.Trp1017Gly)
 ClinVar dbSNP
7g.117611733T=CA1737387396CFTRc.3292T= (p.Trp1098=)
c.*3006T= (n.*3006T=)
c.3109T= (p.Trp1037=)
c.*1592T= (n.*1592T=)
c.*3116T= (n.*3116T=)
c.2866T= (p.Trp956=)
c.40T= (p.Trp14=)
c.883T= (p.Trp295=)
c.942T=
c.2074T= (p.Trp692=)
c.3202T= (p.Trp1068=)
c.117T=
c.3382T= (p.Trp1128=)
c.3049T= (p.Trp1017=)
7g.117611733_117611734delinsTGCA1737387406CFTRc.3292_3293delinsTG (p.Trp1098=)
c.*3006_*3007delinsTG (n.*3006_*3007delinsTG)
c.3109_3110delinsTG (p.Trp1037=)
c.*1592_*1593delinsTG (n.*1592_*1593delinsTG)
c.*3116_*3117delinsTG (n.*3116_*3117delinsTG)
c.2866_2867delinsTG (p.Trp956=)
c.40_41delinsTG (p.Trp14=)
c.883_884delinsTG (p.Trp295=)
c.942_943delinsTG
c.2074_2075delinsTG (p.Trp692=)
c.3202_3203delinsTG (p.Trp1068=)
c.117_118delinsTG
c.3382_3383delinsTG (p.Trp1128=)
c.3049_3050delinsTG (p.Trp1017=)
7g.117611734G>ACA327131CFTRc.3293G>A (p.Trp1098Ter)
c.*3007G>A (n.*3007G>A)
c.3110G>A (p.Trp1037Ter)
c.*1593G>A (n.*1593G>A)
c.*3117G>A (n.*3117G>A)
c.2867G>A (p.Trp956Ter)
c.41G>A (p.Trp14Ter)
c.884G>A (p.Trp295Ter)
c.943G>A
c.2075G>A (p.Trp692Ter)
c.3203G>A (p.Trp1068Ter)
c.118G>A
c.3383G>A (p.Trp1128Ter)
c.3050G>A (p.Trp1017Ter)
 ClinVar dbSNP
7g.117611734G>CCA368992410CFTRc.3293G>C (p.Trp1098Ser)
c.*3007G>C (n.*3007G>C)
c.3110G>C (p.Trp1037Ser)
c.*1593G>C (n.*1593G>C)
c.*3117G>C (n.*3117G>C)
c.2867G>C (p.Trp956Ser)
c.41G>C (p.Trp14Ser)
c.884G>C (p.Trp295Ser)
c.943G>C
c.2075G>C (p.Trp692Ser)
c.3203G>C (p.Trp1068Ser)
c.118G>C
c.3383G>C (p.Trp1128Ser)
c.3050G>C (p.Trp1017Ser)
 ClinVar
7g.117611734G=CA1737387413CFTRc.3293G= (p.Trp1098=)
c.*3007G= (n.*3007G=)
c.3110G= (p.Trp1037=)
c.*1593G= (n.*1593G=)
c.*3117G= (n.*3117G=)
c.2867G= (p.Trp956=)
c.41G= (p.Trp14=)
c.884G= (p.Trp295=)
c.943G=
c.2075G= (p.Trp692=)
c.3203G= (p.Trp1068=)
c.118G=
c.3383G= (p.Trp1128=)
c.3050G= (p.Trp1017=)
7g.117611734G>TCA368992413CFTRc.3293G>T (p.Trp1098Leu)
c.*3007G>T (n.*3007G>T)
c.3110G>T (p.Trp1037Leu)
c.*1593G>T (n.*1593G>T)
c.*3117G>T (n.*3117G>T)
c.2867G>T (p.Trp956Leu)
c.41G>T (p.Trp14Leu)
c.884G>T (p.Trp295Leu)
c.943G>T
c.2075G>T (p.Trp692Leu)
c.3203G>T (p.Trp1068Leu)
c.118G>T
c.3383G>T (p.Trp1128Leu)
c.3050G>T (p.Trp1017Leu)
 ClinVar
7g.117611735delCA327134CFTRc.3294del (p.Trp1098CysfsTer4)
c.*3008del (n.*3008del)
c.3111del (p.Trp1037CysfsTer4)
c.*1594del (n.*1594del)
c.*3118del (n.*3118del)
c.2868del (p.Trp956CysfsTer4)
c.42del (p.Trp14CysfsTer4)
c.885del (p.Trp295CysfsTer4)
c.944del
c.2076del (p.Trp692CysfsTer4)
c.3204del (p.Trp1068CysfsTer4)
c.119del
c.3384del (p.Trp1128CysfsTer4)
c.3051del (p.Trp1017CysfsTer4)
 ClinVar dbSNP
7g.117611735G>ACA276112CFTRc.3294G>A (p.Trp1098Ter)
c.*3008G>A (n.*3008G>A)
c.3111G>A (p.Trp1037Ter)
c.*1594G>A (n.*1594G>A)
c.*3118G>A (n.*3118G>A)
c.2868G>A (p.Trp956Ter)
c.42G>A (p.Trp14Ter)
c.885G>A (p.Trp295Ter)
c.944G>A
c.2076G>A (p.Trp692Ter)
c.3204G>A (p.Trp1068Ter)
c.119G>A
c.3384G>A (p.Trp1128Ter)
c.3051G>A (p.Trp1017Ter)
 ClinVar dbSNP
7g.117611735G>CCA327132CFTRc.3294G>C (p.Trp1098Cys)
c.*3008G>C (n.*3008G>C)
c.3111G>C (p.Trp1037Cys)
c.*1594G>C (n.*1594G>C)
c.*3118G>C (n.*3118G>C)
c.2868G>C (p.Trp956Cys)
c.42G>C (p.Trp14Cys)
c.885G>C (p.Trp295Cys)
c.944G>C
c.2076G>C (p.Trp692Cys)
c.3204G>C (p.Trp1068Cys)
c.119G>C
c.3384G>C (p.Trp1128Cys)
c.3051G>C (p.Trp1017Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117611735G=CA1737387422CFTRc.3294G= (p.Trp1098=)
c.*3008G= (n.*3008G=)
c.3111G= (p.Trp1037=)
c.*1594G= (n.*1594G=)
c.*3118G= (n.*3118G=)
c.2868G= (p.Trp956=)
c.42G= (p.Trp14=)
c.885G= (p.Trp295=)
c.944G=
c.2076G= (p.Trp692=)
c.3204G= (p.Trp1068=)
c.119G=
c.3384G= (p.Trp1128=)
c.3051G= (p.Trp1017=)
7g.117611735G>TCA368992416CFTRc.3294G>T (p.Trp1098Cys)
c.*3008G>T (n.*3008G>T)
c.3111G>T (p.Trp1037Cys)
c.*1594G>T (n.*1594G>T)
c.*3118G>T (n.*3118G>T)
c.2868G>T (p.Trp956Cys)
c.42G>T (p.Trp14Cys)
c.885G>T (p.Trp295Cys)
c.944G>T
c.2076G>T (p.Trp692Cys)
c.3204G>T (p.Trp1068Cys)
c.119G>T
c.3384G>T (p.Trp1128Cys)
c.3051G>T (p.Trp1017Cys)
 ClinVar dbSNP
7g.117611736T>ACA368992417CFTRc.3295T>A (p.Phe1099Ile)
c.*3009T>A (n.*3009T>A)
c.3112T>A (p.Phe1038Ile)
c.*1595T>A (n.*1595T>A)
c.*3119T>A (n.*3119T>A)
c.2869T>A (p.Phe957Ile)
c.43T>A (p.Phe15Ile)
c.886T>A (p.Phe296Ile)
c.945T>A
c.2077T>A (p.Phe693Ile)
c.3205T>A (p.Phe1069Ile)
c.120T>A
c.3385T>A (p.Phe1129Ile)
c.3052T>A (p.Phe1018Ile)
7g.117611736T>CCA368992419CFTRc.3295T>C (p.Phe1099Leu)
c.*3009T>C (n.*3009T>C)
c.3112T>C (p.Phe1038Leu)
c.*1595T>C (n.*1595T>C)
c.*3119T>C (n.*3119T>C)
c.2869T>C (p.Phe957Leu)
c.43T>C (p.Phe15Leu)
c.886T>C (p.Phe296Leu)
c.945T>C
c.2077T>C (p.Phe693Leu)
c.3205T>C (p.Phe1069Leu)
c.120T>C
c.3385T>C (p.Phe1129Leu)
c.3052T>C (p.Phe1018Leu)
7g.117611736T>GCA368992421CFTRc.3295T>G (p.Phe1099Val)
c.*3009T>G (n.*3009T>G)
c.3112T>G (p.Phe1038Val)
c.*1595T>G (n.*1595T>G)
c.*3119T>G (n.*3119T>G)
c.2869T>G (p.Phe957Val)
c.43T>G (p.Phe15Val)
c.886T>G (p.Phe296Val)
c.945T>G
c.2077T>G (p.Phe693Val)
c.3205T>G (p.Phe1069Val)
c.120T>G
c.3385T>G (p.Phe1129Val)
c.3052T>G (p.Phe1018Val)
7g.117611737T>ACA368992423CFTRc.3296T>A (p.Phe1099Tyr)
c.*3010T>A (n.*3010T>A)
c.3113T>A (p.Phe1038Tyr)
c.*1596T>A (n.*1596T>A)
c.*3120T>A (n.*3120T>A)
c.2870T>A (p.Phe957Tyr)
c.44T>A (p.Phe15Tyr)
c.887T>A (p.Phe296Tyr)
c.946T>A
c.2078T>A (p.Phe693Tyr)
c.3206T>A (p.Phe1069Tyr)
c.121T>A
c.3386T>A (p.Phe1129Tyr)
c.3053T>A (p.Phe1018Tyr)
7g.117611737T>CCA368992425CFTRc.3296T>C (p.Phe1099Ser)
c.*3010T>C (n.*3010T>C)
c.3113T>C (p.Phe1038Ser)
c.*1596T>C (n.*1596T>C)
c.*3120T>C (n.*3120T>C)
c.2870T>C (p.Phe957Ser)
c.44T>C (p.Phe15Ser)
c.887T>C (p.Phe296Ser)
c.946T>C
c.2078T>C (p.Phe693Ser)
c.3206T>C (p.Phe1069Ser)
c.121T>C
c.3386T>C (p.Phe1129Ser)
c.3053T>C (p.Phe1018Ser)
7g.117611737T>GCA368992427CFTRc.3296T>G (p.Phe1099Cys)
c.*3010T>G (n.*3010T>G)
c.3113T>G (p.Phe1038Cys)
c.*1596T>G (n.*1596T>G)
c.*3120T>G (n.*3120T>G)
c.2870T>G (p.Phe957Cys)
c.44T>G (p.Phe15Cys)
c.887T>G (p.Phe296Cys)
c.946T>G
c.2078T>G (p.Phe693Cys)
c.3206T>G (p.Phe1069Cys)
c.121T>G
c.3386T>G (p.Phe1129Cys)
c.3053T>G (p.Phe1018Cys)
7g.117611738C>ACA4451420CFTRc.3297C>A (p.Phe1099Leu)
c.*3011C>A (n.*3011C>A)
c.3114C>A (p.Phe1038Leu)
c.*1597C>A (n.*1597C>A)
c.*3121C>A (n.*3121C>A)
c.2871C>A (p.Phe957Leu)
c.45C>A (p.Phe15Leu)
c.888C>A (p.Phe296Leu)
c.947C>A
c.2079C>A (p.Phe693Leu)
c.3207C>A (p.Phe1069Leu)
c.122C>A
c.3387C>A (p.Phe1129Leu)
c.3054C>A (p.Phe1018Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611738C=CA1737387437CFTRc.3297C= (p.Phe1099=)
c.*3011C= (n.*3011C=)
c.3114C= (p.Phe1038=)
c.*1597C= (n.*1597C=)
c.*3121C= (n.*3121C=)
c.2871C= (p.Phe957=)
c.45C= (p.Phe15=)
c.888C= (p.Phe296=)
c.947C=
c.2079C= (p.Phe693=)
c.3207C= (p.Phe1069=)
c.122C=
c.3387C= (p.Phe1129=)
c.3054C= (p.Phe1018=)
7g.117611738C>GCA368992429CFTRc.3297C>G (p.Phe1099Leu)
c.*3011C>G (n.*3011C>G)
c.3114C>G (p.Phe1038Leu)
c.*1597C>G (n.*1597C>G)
c.*3121C>G (n.*3121C>G)
c.2871C>G (p.Phe957Leu)
c.45C>G (p.Phe15Leu)
c.888C>G (p.Phe296Leu)
c.947C>G
c.2079C>G (p.Phe693Leu)
c.3207C>G (p.Phe1069Leu)
c.122C>G
c.3387C>G (p.Phe1129Leu)
c.3054C>G (p.Phe1018Leu)
7g.117611738C>TCA164966707CFTRc.3297C>T (p.Phe1099=)
c.*3011C>T (n.*3011C>T)
c.3114C>T (p.Phe1038=)
c.*1597C>T (n.*1597C>T)
c.*3121C>T (n.*3121C>T)
c.2871C>T (p.Phe957=)
c.45C>T (p.Phe15=)
c.888C>T (p.Phe296=)
c.947C>T
c.2079C>T (p.Phe693=)
c.3207C>T (p.Phe1069=)
c.122C>T
c.3387C>T (p.Phe1129=)
c.3054C>T (p.Phe1018=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117611739C>ACA368992433CFTRc.3298C>A (p.Gln1100Lys)
c.*3012C>A (n.*3012C>A)
c.3115C>A (p.Gln1039Lys)
c.*1598C>A (n.*1598C>A)
c.*3122C>A (n.*3122C>A)
c.2872C>A (p.Gln958Lys)
c.46C>A (p.Gln16Lys)
c.889C>A (p.Gln297Lys)
c.948C>A
c.2080C>A (p.Gln694Lys)
c.3208C>A (p.Gln1070Lys)
c.123C>A
c.3388C>A (p.Gln1130Lys)
c.3055C>A (p.Gln1019Lys)
7g.117611739C>GCA368992430CFTRc.3298C>G (p.Gln1100Glu)
c.*3012C>G (n.*3012C>G)
c.3115C>G (p.Gln1039Glu)
c.*1598C>G (n.*1598C>G)
c.*3122C>G (n.*3122C>G)
c.2872C>G (p.Gln958Glu)
c.46C>G (p.Gln16Glu)
c.889C>G (p.Gln297Glu)
c.948C>G
c.2080C>G (p.Gln694Glu)
c.3208C>G (p.Gln1070Glu)
c.123C>G
c.3388C>G (p.Gln1130Glu)
c.3055C>G (p.Gln1019Glu)
7g.117611739C>TCA368992431CFTRc.3298C>T (p.Gln1100Ter)
c.*3012C>T (n.*3012C>T)
c.3115C>T (p.Gln1039Ter)
c.*1598C>T (n.*1598C>T)
c.*3122C>T (n.*3122C>T)
c.2872C>T (p.Gln958Ter)
c.46C>T (p.Gln16Ter)
c.889C>T (p.Gln297Ter)
c.948C>T
c.2080C>T (p.Gln694Ter)
c.3208C>T (p.Gln1070Ter)
c.123C>T
c.3388C>T (p.Gln1130Ter)
c.3055C>T (p.Gln1019Ter)
7g.117611740A=CA1737387449CFTRc.3299A= (p.Gln1100=)
c.*3013A= (n.*3013A=)
c.3116A= (p.Gln1039=)
c.*1599A= (n.*1599A=)
c.*3123A= (n.*3123A=)
c.2873A= (p.Gln958=)
c.47A= (p.Gln16=)
c.890A= (p.Gln297=)
c.949A=
c.2081A= (p.Gln694=)
c.3209A= (p.Gln1070=)
c.124A=
c.3389A= (p.Gln1130=)
c.3056A= (p.Gln1019=)
7g.117611740A>CCA327135CFTRc.3299A>C (p.Gln1100Pro)
c.*3013A>C (n.*3013A>C)
c.3116A>C (p.Gln1039Pro)
c.*1599A>C (n.*1599A>C)
c.*3123A>C (n.*3123A>C)
c.2873A>C (p.Gln958Pro)
c.47A>C (p.Gln16Pro)
c.890A>C (p.Gln297Pro)
c.949A>C
c.2081A>C (p.Gln694Pro)
c.3209A>C (p.Gln1070Pro)
c.124A>C
c.3389A>C (p.Gln1130Pro)
c.3056A>C (p.Gln1019Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117611740A>GCA368992435CFTRc.3299A>G (p.Gln1100Arg)
c.*3013A>G (n.*3013A>G)
c.3116A>G (p.Gln1039Arg)
c.*1599A>G (n.*1599A>G)
c.*3123A>G (n.*3123A>G)
c.2873A>G (p.Gln958Arg)
c.47A>G (p.Gln16Arg)
c.890A>G (p.Gln297Arg)
c.949A>G
c.2081A>G (p.Gln694Arg)
c.3209A>G (p.Gln1070Arg)
c.124A>G
c.3389A>G (p.Gln1130Arg)
c.3056A>G (p.Gln1019Arg)
 gnomAD v4
7g.117611740A>TCA368992436CFTRc.3299A>T (p.Gln1100Leu)
c.*3013A>T (n.*3013A>T)
c.3116A>T (p.Gln1039Leu)
c.*1599A>T (n.*1599A>T)
c.*3123A>T (n.*3123A>T)
c.2873A>T (p.Gln958Leu)
c.47A>T (p.Gln16Leu)
c.890A>T (p.Gln297Leu)
c.949A>T
c.2081A>T (p.Gln694Leu)
c.3209A>T (p.Gln1070Leu)
c.124A>T
c.3389A>T (p.Gln1130Leu)
c.3056A>T (p.Gln1019Leu)
7g.117611742delCA2573141589CFTRc.3301del (p.Met1101Ter)
c.*3015del (n.*3015del)
c.3118del (p.Met1040Ter)
c.*1601del (n.*1601del)
c.*3125del (n.*3125del)
c.2875del (p.Met959Ter)
c.49del (p.Met17Ter)
c.892del (p.Met298Ter)
c.951del
c.2083del (p.Met695Ter)
c.3211del (p.Met1071Ter)
c.126del
c.3391del (p.Met1131Ter)
c.3058del (p.Met1020Ter)
 ClinVar dbSNP gnomAD v4
7g.117611741A>CCA368992438CFTRc.3300A>C (p.Gln1100His)
c.*3014A>C (n.*3014A>C)
c.3117A>C (p.Gln1039His)
c.*1600A>C (n.*1600A>C)
c.*3124A>C (n.*3124A>C)
c.2874A>C (p.Gln958His)
c.48A>C (p.Gln16His)
c.891A>C (p.Gln297His)
c.950A>C
c.2082A>C (p.Gln694His)
c.3210A>C (p.Gln1070His)
c.125A>C
c.3390A>C (p.Gln1130His)
c.3057A>C (p.Gln1019His)
7g.117611741A>GCA457230071CFTRc.3300A>G (p.Gln1100=)
c.*3014A>G (n.*3014A>G)
c.3117A>G (p.Gln1039=)
c.*1600A>G (n.*1600A>G)
c.*3124A>G (n.*3124A>G)
c.2874A>G (p.Gln958=)
c.48A>G (p.Gln16=)
c.891A>G (p.Gln297=)
c.950A>G
c.2082A>G (p.Gln694=)
c.3210A>G (p.Gln1070=)
c.125A>G
c.3390A>G (p.Gln1130=)
c.3057A>G (p.Gln1019=)
7g.117611741A>TCA368992440CFTRc.3300A>T (p.Gln1100His)
c.*3014A>T (n.*3014A>T)
c.3117A>T (p.Gln1039His)
c.*1600A>T (n.*1600A>T)
c.*3124A>T (n.*3124A>T)
c.2874A>T (p.Gln958His)
c.48A>T (p.Gln16His)
c.891A>T (p.Gln297His)
c.950A>T
c.2082A>T (p.Gln694His)
c.3210A>T (p.Gln1070His)
c.125A>T
c.3390A>T (p.Gln1130His)
c.3057A>T (p.Gln1019His)
7g.117611742A>CCA368992442CFTRc.3301A>C (p.Met1101Leu)
c.*3015A>C (n.*3015A>C)
c.3118A>C (p.Met1040Leu)
c.*1601A>C (n.*1601A>C)
c.*3125A>C (n.*3125A>C)
c.2875A>C (p.Met959Leu)
c.49A>C (p.Met17Leu)
c.892A>C (p.Met298Leu)
c.951A>C
c.2083A>C (p.Met695Leu)
c.3211A>C (p.Met1071Leu)
c.126A>C
c.3391A>C (p.Met1131Leu)
c.3058A>C (p.Met1020Leu)
7g.117611742A>GCA368992444CFTRc.3301A>G (p.Met1101Val)
c.*3015A>G (n.*3015A>G)
c.3118A>G (p.Met1040Val)
c.*1601A>G (n.*1601A>G)
c.*3125A>G (n.*3125A>G)
c.2875A>G (p.Met959Val)
c.49A>G (p.Met17Val)
c.892A>G (p.Met298Val)
c.951A>G
c.2083A>G (p.Met695Val)
c.3211A>G (p.Met1071Val)
c.126A>G
c.3391A>G (p.Met1131Val)
c.3058A>G (p.Met1020Val)
7g.117611742A>TCA368992446CFTRc.3301A>T (p.Met1101Leu)
c.*3015A>T (n.*3015A>T)
c.3118A>T (p.Met1040Leu)
c.*1601A>T (n.*1601A>T)
c.*3125A>T (n.*3125A>T)
c.2875A>T (p.Met959Leu)
c.49A>T (p.Met17Leu)
c.892A>T (p.Met298Leu)
c.951A>T
c.2083A>T (p.Met695Leu)
c.3211A>T (p.Met1071Leu)
c.126A>T
c.3391A>T (p.Met1131Leu)
c.3058A>T (p.Met1020Leu)
7g.117611743T>ACA221025CFTRc.3302T>A (p.Met1101Lys)
c.*3016T>A (n.*3016T>A)
c.3119T>A (p.Met1040Lys)
c.*1602T>A (n.*1602T>A)
c.*3126T>A (n.*3126T>A)
c.2876T>A (p.Met959Lys)
c.50T>A (p.Met17Lys)
c.893T>A (p.Met298Lys)
c.952T>A
c.2084T>A (p.Met695Lys)
c.3212T>A (p.Met1071Lys)
c.127T>A
c.3392T>A (p.Met1131Lys)
c.3059T>A (p.Met1020Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611743T>CCA368992448CFTRc.3302T>C (p.Met1101Thr)
c.*3016T>C (n.*3016T>C)
c.3119T>C (p.Met1040Thr)
c.*1602T>C (n.*1602T>C)
c.*3126T>C (n.*3126T>C)
c.2876T>C (p.Met959Thr)
c.50T>C (p.Met17Thr)
c.893T>C (p.Met298Thr)
c.952T>C
c.2084T>C (p.Met695Thr)
c.3212T>C (p.Met1071Thr)
c.127T>C
c.3392T>C (p.Met1131Thr)
c.3059T>C (p.Met1020Thr)
7g.117611743T>GCA327137CFTRc.3302T>G (p.Met1101Arg)
c.*3016T>G (n.*3016T>G)
c.3119T>G (p.Met1040Arg)
c.*1602T>G (n.*1602T>G)
c.*3126T>G (n.*3126T>G)
c.2876T>G (p.Met959Arg)
c.50T>G (p.Met17Arg)
c.893T>G (p.Met298Arg)
c.952T>G
c.2084T>G (p.Met695Arg)
c.3212T>G (p.Met1071Arg)
c.127T>G
c.3392T>G (p.Met1131Arg)
c.3059T>G (p.Met1020Arg)
 ClinVar dbSNP
7g.117611743T=CA1737387457CFTRc.3302T= (p.Met1101=)
c.*3016T= (n.*3016T=)
c.3119T= (p.Met1040=)
c.*1602T= (n.*1602T=)
c.*3126T= (n.*3126T=)
c.2876T= (p.Met959=)
c.50T= (p.Met17=)
c.893T= (p.Met298=)
c.952T=
c.2084T= (p.Met695=)
c.3212T= (p.Met1071=)
c.127T=
c.3392T= (p.Met1131=)
c.3059T= (p.Met1020=)
7g.117611744G>ACA4451421CFTRc.3303G>A (p.Met1101Ile)
c.*3017G>A (n.*3017G>A)
c.3120G>A (p.Met1040Ile)
c.*1603G>A (n.*1603G>A)
c.*3127G>A (n.*3127G>A)
c.2877G>A (p.Met959Ile)
c.51G>A (p.Met17Ile)
c.894G>A (p.Met298Ile)
c.953G>A
c.2085G>A (p.Met695Ile)
c.3213G>A (p.Met1071Ile)
c.128G>A
c.3393G>A (p.Met1131Ile)
c.3060G>A (p.Met1020Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117611744G>CCA368992454CFTRc.3303G>C (p.Met1101Ile)
c.*3017G>C (n.*3017G>C)
c.3120G>C (p.Met1040Ile)
c.*1603G>C (n.*1603G>C)
c.*3127G>C (n.*3127G>C)
c.2877G>C (p.Met959Ile)
c.51G>C (p.Met17Ile)
c.894G>C (p.Met298Ile)
c.953G>C
c.2085G>C (p.Met695Ile)
c.3213G>C (p.Met1071Ile)
c.128G>C
c.3393G>C (p.Met1131Ile)
c.3060G>C (p.Met1020Ile)
7g.117611744G=CA1737387466CFTRc.3303G= (p.Met1101=)
c.*3017G= (n.*3017G=)
c.3120G= (p.Met1040=)
c.*1603G= (n.*1603G=)
c.*3127G= (n.*3127G=)
c.2877G= (p.Met959=)
c.51G= (p.Met17=)
c.894G= (p.Met298=)
c.953G=
c.2085G= (p.Met695=)
c.3213G= (p.Met1071=)
c.128G=
c.3393G= (p.Met1131=)
c.3060G= (p.Met1020=)
7g.117611744G>TCA368992452CFTRc.3303G>T (p.Met1101Ile)
c.*3017G>T (n.*3017G>T)
c.3120G>T (p.Met1040Ile)
c.*1603G>T (n.*1603G>T)
c.*3127G>T (n.*3127G>T)
c.2877G>T (p.Met959Ile)
c.51G>T (p.Met17Ile)
c.894G>T (p.Met298Ile)
c.953G>T
c.2085G>T (p.Met695Ile)
c.3213G>T (p.Met1071Ile)
c.128G>T
c.3393G>T (p.Met1131Ile)
c.3060G>T (p.Met1020Ile)
7g.117611744_117611745delinsAGCA2580076386CFTRc.3303_3304delinsAG (p.Met1101_Arg1102delinsIleGly)
c.*3017_*3018delinsAG (n.*3017_*3018delinsAG)
c.3120_3121delinsAG (p.Met1040_Arg1041delinsIleGly)
c.*1603_*1604delinsAG (n.*1603_*1604delinsAG)
c.*3127_*3128delinsAG (n.*3127_*3128delinsAG)
c.2877_2878delinsAG (p.Met959_Arg960delinsIleGly)
c.51_52delinsAG (p.Met17_Arg18delinsIleGly)
c.894_895delinsAG (p.Met298_Arg299delinsIleGly)
c.953_954delinsAG
c.2085_2086delinsAG (p.Met695_Arg696delinsIleGly)
c.3213_3214delinsAG (p.Met1071_Arg1072delinsIleGly)
c.128_129delinsAG
c.3393_3394delinsAG (p.Met1131_Arg1132delinsIleGly)
c.3060_3061delinsAG (p.Met1020_Arg1021delinsIleGly)
 ClinVar
7g.117611745A=CA1737387470CFTRc.3304A= (p.Arg1102=)
c.*3018A= (n.*3018A=)
c.3121A= (p.Arg1041=)
c.*1604A= (n.*1604A=)
c.*3128A= (n.*3128A=)
c.2878A= (p.Arg960=)
c.52A= (p.Arg18=)
c.895A= (p.Arg299=)
c.954A=
c.2086A= (p.Arg696=)
c.3214A= (p.Arg1072=)
c.129A=
c.3394A= (p.Arg1132=)
c.3061A= (p.Arg1021=)
7g.117611745A>CCA457230072CFTRc.3304A>C (p.Arg1102=)
c.*3018A>C (n.*3018A>C)
c.3121A>C (p.Arg1041=)
c.*1604A>C (n.*1604A>C)
c.*3128A>C (n.*3128A>C)
c.2878A>C (p.Arg960=)
c.52A>C (p.Arg18=)
c.895A>C (p.Arg299=)
c.954A>C
c.2086A>C (p.Arg696=)
c.3214A>C (p.Arg1072=)
c.129A>C
c.3394A>C (p.Arg1132=)
c.3061A>C (p.Arg1021=)
7g.117611745A>GCA368992457CFTRc.3304A>G (p.Arg1102Gly)
c.*3018A>G (n.*3018A>G)
c.3121A>G (p.Arg1041Gly)
c.*1604A>G (n.*1604A>G)
c.*3128A>G (n.*3128A>G)
c.2878A>G (p.Arg960Gly)
c.52A>G (p.Arg18Gly)
c.895A>G (p.Arg299Gly)
c.954A>G
c.2086A>G (p.Arg696Gly)
c.3214A>G (p.Arg1072Gly)
c.129A>G
c.3394A>G (p.Arg1132Gly)
c.3061A>G (p.Arg1021Gly)
7g.117611745A>TCA327138CFTRc.3304A>T (p.Arg1102Ter)
c.*3018A>T (n.*3018A>T)
c.3121A>T (p.Arg1041Ter)
c.*1604A>T (n.*1604A>T)
c.*3128A>T (n.*3128A>T)
c.2878A>T (p.Arg960Ter)
c.52A>T (p.Arg18Ter)
c.895A>T (p.Arg299Ter)
c.954A>T
c.2086A>T (p.Arg696Ter)
c.3214A>T (p.Arg1072Ter)
c.129A>T
c.3394A>T (p.Arg1132Ter)
c.3061A>T (p.Arg1021Ter)
 ClinVar dbSNP
7g.117611746G>ACA164966739CFTRc.3305G>A (p.Arg1102Lys)
c.*3019G>A (n.*3019G>A)
c.3122G>A (p.Arg1041Lys)
c.*1605G>A (n.*1605G>A)
c.*3129G>A (n.*3129G>A)
c.2879G>A (p.Arg960Lys)
c.53G>A (p.Arg18Lys)
c.896G>A (p.Arg299Lys)
c.955G>A
c.2087G>A (p.Arg696Lys)
c.3215G>A (p.Arg1072Lys)
c.130G>A
c.3395G>A (p.Arg1132Lys)
c.3062G>A (p.Arg1021Lys)
 dbSNP gnomAD v2 gnomAD v4
7g.117611746G>CCA368992460CFTRc.3305G>C (p.Arg1102Thr)
c.*3019G>C (n.*3019G>C)
c.3122G>C (p.Arg1041Thr)
c.*1605G>C (n.*1605G>C)
c.*3129G>C (n.*3129G>C)
c.2879G>C (p.Arg960Thr)
c.53G>C (p.Arg18Thr)
c.896G>C (p.Arg299Thr)
c.955G>C
c.2087G>C (p.Arg696Thr)
c.3215G>C (p.Arg1072Thr)
c.130G>C
c.3395G>C (p.Arg1132Thr)
c.3062G>C (p.Arg1021Thr)
7g.117611746G=CA1737387478CFTRc.3305G= (p.Arg1102=)
c.*3019G= (n.*3019G=)
c.3122G= (p.Arg1041=)
c.*1605G= (n.*1605G=)
c.*3129G= (n.*3129G=)
c.2879G= (p.Arg960=)
c.53G= (p.Arg18=)
c.896G= (p.Arg299=)
c.955G=
c.2087G= (p.Arg696=)
c.3215G= (p.Arg1072=)
c.130G=
c.3395G= (p.Arg1132=)
c.3062G= (p.Arg1021=)
7g.117611746G>TCA368992462CFTRc.3305G>T (p.Arg1102Ile)
c.*3019G>T (n.*3019G>T)
c.3122G>T (p.Arg1041Ile)
c.*1605G>T (n.*1605G>T)
c.*3129G>T (n.*3129G>T)
c.2879G>T (p.Arg960Ile)
c.53G>T (p.Arg18Ile)
c.896G>T (p.Arg299Ile)
c.955G>T
c.2087G>T (p.Arg696Ile)
c.3215G>T (p.Arg1072Ile)
c.130G>T
c.3395G>T (p.Arg1132Ile)
c.3062G>T (p.Arg1021Ile)
7g.117611747A=CA1737387487CFTRc.3306A= (p.Arg1102=)
c.*3020A= (n.*3020A=)
c.3123A= (p.Arg1041=)
c.*1606A= (n.*1606A=)
c.*3130A= (n.*3130A=)
c.2880A= (p.Arg960=)
c.54A= (p.Arg18=)
c.897A= (p.Arg299=)
c.956A=
c.2088A= (p.Arg696=)
c.3216A= (p.Arg1072=)
c.131A=
c.3396A= (p.Arg1132=)
c.3063A= (p.Arg1021=)
7g.117611747A>CCA368992464CFTRc.3306A>C (p.Arg1102Ser)
c.*3020A>C (n.*3020A>C)
c.3123A>C (p.Arg1041Ser)
c.*1606A>C (n.*1606A>C)
c.*3130A>C (n.*3130A>C)
c.2880A>C (p.Arg960Ser)
c.54A>C (p.Arg18Ser)
c.897A>C (p.Arg299Ser)
c.956A>C
c.2088A>C (p.Arg696Ser)
c.3216A>C (p.Arg1072Ser)
c.131A>C
c.3396A>C (p.Arg1132Ser)
c.3063A>C (p.Arg1021Ser)
 ClinVar
7g.117611747A>GCA4451422CFTRc.3306A>G (p.Arg1102=)
c.*3020A>G (n.*3020A>G)
c.3123A>G (p.Arg1041=)
c.*1606A>G (n.*1606A>G)
c.*3130A>G (n.*3130A>G)
c.2880A>G (p.Arg960=)
c.54A>G (p.Arg18=)
c.897A>G (p.Arg299=)
c.956A>G
c.2088A>G (p.Arg696=)
c.3216A>G (p.Arg1072=)
c.131A>G
c.3396A>G (p.Arg1132=)
c.3063A>G (p.Arg1021=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611747A>TCA368992465CFTRc.3306A>T (p.Arg1102Ser)
c.*3020A>T (n.*3020A>T)
c.3123A>T (p.Arg1041Ser)
c.*1606A>T (n.*1606A>T)
c.*3130A>T (n.*3130A>T)
c.2880A>T (p.Arg960Ser)
c.54A>T (p.Arg18Ser)
c.897A>T (p.Arg299Ser)
c.956A>T
c.2088A>T (p.Arg696Ser)
c.3216A>T (p.Arg1072Ser)
c.131A>T
c.3396A>T (p.Arg1132Ser)
c.3063A>T (p.Arg1021Ser)
7g.117611748delCA2695208438CFTRc.3307del (p.Ile1103Ter)
c.*3021del (n.*3021del)
c.3124del (p.Ile1042Ter)
c.*1607del (n.*1607del)
c.*3131del (n.*3131del)
c.2881del (p.Ile961Ter)
c.55del (p.Ile19Ter)
c.898del (p.Ile300Ter)
c.957del
c.2089del (p.Ile697Ter)
c.3217del (p.Ile1073Ter)
c.132del
c.3397del (p.Ile1133Ter)
c.3064del (p.Ile1022Ter)
7g.117611748A>CCA368992467CFTRc.3307A>C (p.Ile1103Leu)
c.*3021A>C (n.*3021A>C)
c.3124A>C (p.Ile1042Leu)
c.*1607A>C (n.*1607A>C)
c.*3131A>C (n.*3131A>C)
c.2881A>C (p.Ile961Leu)
c.55A>C (p.Ile19Leu)
c.898A>C (p.Ile300Leu)
c.957A>C
c.2089A>C (p.Ile697Leu)
c.3217A>C (p.Ile1073Leu)
c.132A>C
c.3397A>C (p.Ile1133Leu)
c.3064A>C (p.Ile1022Leu)
7g.117611748A>GCA368992469CFTRc.3307A>G (p.Ile1103Val)
c.*3021A>G (n.*3021A>G)
c.3124A>G (p.Ile1042Val)
c.*1607A>G (n.*1607A>G)
c.*3131A>G (n.*3131A>G)
c.2881A>G (p.Ile961Val)
c.55A>G (p.Ile19Val)
c.898A>G (p.Ile300Val)
c.957A>G
c.2089A>G (p.Ile697Val)
c.3217A>G (p.Ile1073Val)
c.132A>G
c.3397A>G (p.Ile1133Val)
c.3064A>G (p.Ile1022Val)
 gnomAD v4
7g.117611748A>TCA368992470CFTRc.3307A>T (p.Ile1103Leu)
c.*3021A>T (n.*3021A>T)
c.3124A>T (p.Ile1042Leu)
c.*1607A>T (n.*1607A>T)
c.*3131A>T (n.*3131A>T)
c.2881A>T (p.Ile961Leu)
c.55A>T (p.Ile19Leu)
c.898A>T (p.Ile300Leu)
c.957A>T
c.2089A>T (p.Ile697Leu)
c.3217A>T (p.Ile1073Leu)
c.132A>T
c.3397A>T (p.Ile1133Leu)
c.3064A>T (p.Ile1022Leu)
7g.117611749T>ACA368992473CFTRc.3308T>A (p.Ile1103Lys)
c.*3022T>A (n.*3022T>A)
c.3125T>A (p.Ile1042Lys)
c.*1608T>A (n.*1608T>A)
c.*3132T>A (n.*3132T>A)
c.2882T>A (p.Ile961Lys)
c.56T>A (p.Ile19Lys)
c.899T>A (p.Ile300Lys)
c.958T>A
c.2090T>A (p.Ile697Lys)
c.3218T>A (p.Ile1073Lys)
c.133T>A
c.3398T>A (p.Ile1133Lys)
c.3065T>A (p.Ile1022Lys)
7g.117611749T>CCA368992474CFTRc.3308T>C (p.Ile1103Thr)
c.*3022T>C (n.*3022T>C)
c.3125T>C (p.Ile1042Thr)
c.*1608T>C (n.*1608T>C)
c.*3132T>C (n.*3132T>C)
c.2882T>C (p.Ile961Thr)
c.56T>C (p.Ile19Thr)
c.899T>C (p.Ile300Thr)
c.958T>C
c.2090T>C (p.Ile697Thr)
c.3218T>C (p.Ile1073Thr)
c.133T>C
c.3398T>C (p.Ile1133Thr)
c.3065T>C (p.Ile1022Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117611749T>GCA368992476CFTRc.3308T>G (p.Ile1103Arg)
c.*3022T>G (n.*3022T>G)
c.3125T>G (p.Ile1042Arg)
c.*1608T>G (n.*1608T>G)
c.*3132T>G (n.*3132T>G)
c.2882T>G (p.Ile961Arg)
c.56T>G (p.Ile19Arg)
c.899T>G (p.Ile300Arg)
c.958T>G
c.2090T>G (p.Ile697Arg)
c.3218T>G (p.Ile1073Arg)
c.133T>G
c.3398T>G (p.Ile1133Arg)
c.3065T>G (p.Ile1022Arg)
 ClinVar
7g.117611749T=CA1737387495CFTRc.3308T= (p.Ile1103=)
c.*3022T= (n.*3022T=)
c.3125T= (p.Ile1042=)
c.*1608T= (n.*1608T=)
c.*3132T= (n.*3132T=)
c.2882T= (p.Ile961=)
c.56T= (p.Ile19=)
c.899T= (p.Ile300=)
c.958T=
c.2090T= (p.Ile697=)
c.3218T= (p.Ile1073=)
c.133T=
c.3398T= (p.Ile1133=)
c.3065T= (p.Ile1022=)
7g.117611750A=CA1737387504CFTRc.3309A= (p.Ile1103=)
c.*3023A= (n.*3023A=)
c.3126A= (p.Ile1042=)
c.*1609A= (n.*1609A=)
c.*3133A= (n.*3133A=)
c.2883A= (p.Ile961=)
c.57A= (p.Ile19=)
c.900A= (p.Ile300=)
c.959A=
c.2091A= (p.Ile697=)
c.3219A= (p.Ile1073=)
c.134A=
c.3399A= (p.Ile1133=)
c.3066A= (p.Ile1022=)
7g.117611750A>CCA457230073CFTRc.3309A>C (p.Ile1103=)
c.*3023A>C (n.*3023A>C)
c.3126A>C (p.Ile1042=)
c.*1609A>C (n.*1609A>C)
c.*3133A>C (n.*3133A>C)
c.2883A>C (p.Ile961=)
c.57A>C (p.Ile19=)
c.900A>C (p.Ile300=)
c.959A>C
c.2091A>C (p.Ile697=)
c.3219A>C (p.Ile1073=)
c.134A>C
c.3399A>C (p.Ile1133=)
c.3066A>C (p.Ile1022=)
7g.117611750A>GCA368992478CFTRc.3309A>G (p.Ile1103Met)
c.*3023A>G (n.*3023A>G)
c.3126A>G (p.Ile1042Met)
c.*1609A>G (n.*1609A>G)
c.*3133A>G (n.*3133A>G)
c.2883A>G (p.Ile961Met)
c.57A>G (p.Ile19Met)
c.900A>G (p.Ile300Met)
c.959A>G
c.2091A>G (p.Ile697Met)
c.3219A>G (p.Ile1073Met)
c.134A>G
c.3399A>G (p.Ile1133Met)
c.3066A>G (p.Ile1022Met)
 dbSNP gnomAD v3 gnomAD v4
7g.117611750A>TCA457230074CFTRc.3309A>T (p.Ile1103=)
c.*3023A>T (n.*3023A>T)
c.3126A>T (p.Ile1042=)
c.*1609A>T (n.*1609A>T)
c.*3133A>T (n.*3133A>T)
c.2883A>T (p.Ile961=)
c.57A>T (p.Ile19=)
c.900A>T (p.Ile300=)
c.959A>T
c.2091A>T (p.Ile697=)
c.3219A>T (p.Ile1073=)
c.134A>T
c.3399A>T (p.Ile1133=)
c.3066A>T (p.Ile1022=)
7g.117611751G>ACA368992480CFTRc.3310G>A (p.Glu1104Lys)
c.*3024G>A (n.*3024G>A)
c.3127G>A (p.Glu1043Lys)
c.*1610G>A (n.*1610G>A)
c.*3134G>A (n.*3134G>A)
c.2884G>A (p.Glu962Lys)
c.58G>A (p.Glu20Lys)
c.901G>A (p.Glu301Lys)
c.960G>A
c.2092G>A (p.Glu698Lys)
c.3220G>A (p.Glu1074Lys)
c.135G>A
c.3400G>A (p.Glu1134Lys)
c.3067G>A (p.Glu1023Lys)
7g.117611751G>CCA368992483CFTRc.3310G>C (p.Glu1104Gln)
c.*3024G>C (n.*3024G>C)
c.3127G>C (p.Glu1043Gln)
c.*1610G>C (n.*1610G>C)
c.*3134G>C (n.*3134G>C)
c.2884G>C (p.Glu962Gln)
c.58G>C (p.Glu20Gln)
c.901G>C (p.Glu301Gln)
c.960G>C
c.2092G>C (p.Glu698Gln)
c.3220G>C (p.Glu1074Gln)
c.135G>C
c.3400G>C (p.Glu1134Gln)
c.3067G>C (p.Glu1023Gln)
7g.117611751G=CA1737387511CFTRc.3310G= (p.Glu1104=)
c.*3024G= (n.*3024G=)
c.3127G= (p.Glu1043=)
c.*1610G= (n.*1610G=)
c.*3134G= (n.*3134G=)
c.2884G= (p.Glu962=)
c.58G= (p.Glu20=)
c.901G= (p.Glu301=)
c.960G=
c.2092G= (p.Glu698=)
c.3220G= (p.Glu1074=)
c.135G=
c.3400G= (p.Glu1134=)
c.3067G= (p.Glu1023=)
7g.117611751G>TCA328113CFTRc.3310G>T (p.Glu1104Ter)
c.*3024G>T (n.*3024G>T)
c.3127G>T (p.Glu1043Ter)
c.*1610G>T (n.*1610G>T)
c.*3134G>T (n.*3134G>T)
c.2884G>T (p.Glu962Ter)
c.58G>T (p.Glu20Ter)
c.901G>T (p.Glu301Ter)
c.960G>T
c.2092G>T (p.Glu698Ter)
c.3220G>T (p.Glu1074Ter)
c.135G>T
c.3400G>T (p.Glu1134Ter)
c.3067G>T (p.Glu1023Ter)
 ClinVar dbSNP COSMIC
7g.117611752A>CCA368992484CFTRc.3311A>C (p.Glu1104Ala)
c.*3025A>C (n.*3025A>C)
c.3128A>C (p.Glu1043Ala)
c.*1611A>C (n.*1611A>C)
c.*3135A>C (n.*3135A>C)
c.2885A>C (p.Glu962Ala)
c.59A>C (p.Glu20Ala)
c.902A>C (p.Glu301Ala)
c.961A>C
c.2093A>C (p.Glu698Ala)
c.3221A>C (p.Glu1074Ala)
c.136A>C
c.3401A>C (p.Glu1134Ala)
c.3068A>C (p.Glu1023Ala)
7g.117611752A>GCA368992486CFTRc.3311A>G (p.Glu1104Gly)
c.*3025A>G (n.*3025A>G)
c.3128A>G (p.Glu1043Gly)
c.*1611A>G (n.*1611A>G)
c.*3135A>G (n.*3135A>G)
c.2885A>G (p.Glu962Gly)
c.59A>G (p.Glu20Gly)
c.902A>G (p.Glu301Gly)
c.961A>G
c.2093A>G (p.Glu698Gly)
c.3221A>G (p.Glu1074Gly)
c.136A>G
c.3401A>G (p.Glu1134Gly)
c.3068A>G (p.Glu1023Gly)
7g.117611752A>TCA368992488CFTRc.3311A>T (p.Glu1104Val)
c.*3025A>T (n.*3025A>T)
c.3128A>T (p.Glu1043Val)
c.*1611A>T (n.*1611A>T)
c.*3135A>T (n.*3135A>T)
c.2885A>T (p.Glu962Val)
c.59A>T (p.Glu20Val)
c.902A>T (p.Glu301Val)
c.961A>T
c.2093A>T (p.Glu698Val)
c.3221A>T (p.Glu1074Val)
c.136A>T
c.3401A>T (p.Glu1134Val)
c.3068A>T (p.Glu1023Val)
7g.117611754delCA2684588444CFTRc.3313del (p.Met1105Ter)
c.*3027del (n.*3027del)
c.3130del (p.Met1044Ter)
c.*1613del (n.*1613del)
c.*3137del (n.*3137del)
c.2887del (p.Met963Ter)
c.61del (p.Met21Ter)
c.904del (p.Met302Ter)
c.963del
c.2095del (p.Met699Ter)
c.3223del (p.Met1075Ter)
c.138del
c.3403del (p.Met1135Ter)
c.3070del (p.Met1024Ter)
 gnomAD v4
7g.117611753A>CCA368992490CFTRc.3312A>C (p.Glu1104Asp)
c.*3026A>C (n.*3026A>C)
c.3129A>C (p.Glu1043Asp)
c.*1612A>C (n.*1612A>C)
c.*3136A>C (n.*3136A>C)
c.2886A>C (p.Glu962Asp)
c.60A>C (p.Glu20Asp)
c.903A>C (p.Glu301Asp)
c.962A>C
c.2094A>C (p.Glu698Asp)
c.3222A>C (p.Glu1074Asp)
c.137A>C
c.3402A>C (p.Glu1134Asp)
c.3069A>C (p.Glu1023Asp)
7g.117611753A>GCA457230075CFTRc.3312A>G (p.Glu1104=)
c.*3026A>G (n.*3026A>G)
c.3129A>G (p.Glu1043=)
c.*1612A>G (n.*1612A>G)
c.*3136A>G (n.*3136A>G)
c.2886A>G (p.Glu962=)
c.60A>G (p.Glu20=)
c.903A>G (p.Glu301=)
c.962A>G
c.2094A>G (p.Glu698=)
c.3222A>G (p.Glu1074=)
c.137A>G
c.3402A>G (p.Glu1134=)
c.3069A>G (p.Glu1023=)
7g.117611753A>TCA368992492CFTRc.3312A>T (p.Glu1104Asp)
c.*3026A>T (n.*3026A>T)
c.3129A>T (p.Glu1043Asp)
c.*1612A>T (n.*1612A>T)
c.*3136A>T (n.*3136A>T)
c.2886A>T (p.Glu962Asp)
c.60A>T (p.Glu20Asp)
c.903A>T (p.Glu301Asp)
c.962A>T
c.2094A>T (p.Glu698Asp)
c.3222A>T (p.Glu1074Asp)
c.137A>T
c.3402A>T (p.Glu1134Asp)
c.3069A>T (p.Glu1023Asp)
7g.117611754A=CA1737387519CFTRc.3313A= (p.Met1105=)
c.*3027A= (n.*3027A=)
c.3130A= (p.Met1044=)
c.*1613A= (n.*1613A=)
c.*3137A= (n.*3137A=)
c.2887A= (p.Met963=)
c.61A= (p.Met21=)
c.904A= (p.Met302=)
c.963A=
c.2095A= (p.Met699=)
c.3223A= (p.Met1075=)
c.138A=
c.3403A= (p.Met1135=)
c.3070A= (p.Met1024=)
7g.117611754A>CCA368992494CFTRc.3313A>C (p.Met1105Leu)
c.*3027A>C (n.*3027A>C)
c.3130A>C (p.Met1044Leu)
c.*1613A>C (n.*1613A>C)
c.*3137A>C (n.*3137A>C)
c.2887A>C (p.Met963Leu)
c.61A>C (p.Met21Leu)
c.904A>C (p.Met302Leu)
c.963A>C
c.2095A>C (p.Met699Leu)
c.3223A>C (p.Met1075Leu)
c.138A>C
c.3403A>C (p.Met1135Leu)
c.3070A>C (p.Met1024Leu)
7g.117611754A>GCA368992496CFTRc.3313A>G (p.Met1105Val)
c.*3027A>G (n.*3027A>G)
c.3130A>G (p.Met1044Val)
c.*1613A>G (n.*1613A>G)
c.*3137A>G (n.*3137A>G)
c.2887A>G (p.Met963Val)
c.61A>G (p.Met21Val)
c.904A>G (p.Met302Val)
c.963A>G
c.2095A>G (p.Met699Val)
c.3223A>G (p.Met1075Val)
c.138A>G
c.3403A>G (p.Met1135Val)
c.3070A>G (p.Met1024Val)
 gnomAD v4
7g.117611754A>TCA368992498CFTRc.3313A>T (p.Met1105Leu)
c.*3027A>T (n.*3027A>T)
c.3130A>T (p.Met1044Leu)
c.*1613A>T (n.*1613A>T)
c.*3137A>T (n.*3137A>T)
c.2887A>T (p.Met963Leu)
c.61A>T (p.Met21Leu)
c.904A>T (p.Met302Leu)
c.963A>T
c.2095A>T (p.Met699Leu)
c.3223A>T (p.Met1075Leu)
c.138A>T
c.3403A>T (p.Met1135Leu)
c.3070A>T (p.Met1024Leu)
7g.117611754_117611755insACATCA577680855CFTRc.3313_3314insACAT (p.Met1105AsnfsTer?)
c.*3027_*3028insACAT (n.*3027_*3028insACAT)
c.3130_3131insACAT (p.Met1044AsnfsTer?)
c.*1613_*1614insACAT (n.*1613_*1614insACAT)
c.*3137_*3138insACAT (n.*3137_*3138insACAT)
c.2887_2888insACAT (p.Met963AsnfsTer?)
c.61_62insACAT (p.Met21AsnfsTer?)
c.904_905insACAT (p.Met302AsnfsTer?)
c.963_964insACAT
c.2095_2096insACAT (p.Met699AsnfsTer?)
c.3223_3224insACAT (p.Met1075AsnfsTer?)
c.138_139insACAT
c.3403_3404insACAT (p.Met1135AsnfsTer?)
c.3070_3071insACAT (p.Met1024AsnfsTer?)
 dbSNP gnomAD v2
7g.117611755T>ACA368992500CFTRc.3314T>A (p.Met1105Lys)
c.*3028T>A (n.*3028T>A)
c.3131T>A (p.Met1044Lys)
c.*1614T>A (n.*1614T>A)
c.*3138T>A (n.*3138T>A)
c.2888T>A (p.Met963Lys)
c.62T>A (p.Met21Lys)
c.905T>A (p.Met302Lys)
c.964T>A
c.2096T>A (p.Met699Lys)
c.3224T>A (p.Met1075Lys)
c.139T>A
c.3404T>A (p.Met1135Lys)
c.3071T>A (p.Met1024Lys)
7g.117611755T>CCA368992502CFTRc.3314T>C (p.Met1105Thr)
c.*3028T>C (n.*3028T>C)
c.3131T>C (p.Met1044Thr)
c.*1614T>C (n.*1614T>C)
c.*3138T>C (n.*3138T>C)
c.2888T>C (p.Met963Thr)
c.62T>C (p.Met21Thr)
c.905T>C (p.Met302Thr)
c.964T>C
c.2096T>C (p.Met699Thr)
c.3224T>C (p.Met1075Thr)
c.139T>C
c.3404T>C (p.Met1135Thr)
c.3071T>C (p.Met1024Thr)
7g.117611755T>GCA327142CFTRc.3314T>G (p.Met1105Arg)
c.*3028T>G (n.*3028T>G)
c.3131T>G (p.Met1044Arg)
c.*1614T>G (n.*1614T>G)
c.*3138T>G (n.*3138T>G)
c.2888T>G (p.Met963Arg)
c.62T>G (p.Met21Arg)
c.905T>G (p.Met302Arg)
c.964T>G
c.2096T>G (p.Met699Arg)
c.3224T>G (p.Met1075Arg)
c.139T>G
c.3404T>G (p.Met1135Arg)
c.3071T>G (p.Met1024Arg)
 ClinVar dbSNP
7g.117611755T=CA1737387528CFTRc.3314T= (p.Met1105=)
c.*3028T= (n.*3028T=)
c.3131T= (p.Met1044=)
c.*1614T= (n.*1614T=)
c.*3138T= (n.*3138T=)
c.2888T= (p.Met963=)
c.62T= (p.Met21=)
c.905T= (p.Met302=)
c.964T=
c.2096T= (p.Met699=)
c.3224T= (p.Met1075=)
c.139T=
c.3404T= (p.Met1135=)
c.3071T= (p.Met1024=)
7g.117611755_117611756delinsTGCA1737387533CFTRc.3314_3315delinsTG (p.Met1105=)
c.*3028_*3029delinsTG (n.*3028_*3029delinsTG)
c.3131_3132delinsTG (p.Met1044=)
c.*1614_*1615delinsTG (n.*1614_*1615delinsTG)
c.*3138_*3139delinsTG (n.*3138_*3139delinsTG)
c.2888_2889delinsTG (p.Met963=)
c.62_63delinsTG (p.Met21=)
c.905_906delinsTG (p.Met302=)
c.964_965delinsTG
c.2096_2097delinsTG (p.Met699=)
c.3224_3225delinsTG (p.Met1075=)
c.139_140delinsTG
c.3404_3405delinsTG (p.Met1135=)
c.3071_3072delinsTG (p.Met1024=)
7g.117611756delCA327144CFTRc.3315del (p.Met1105IlefsTer16)
c.*3029del (n.*3029del)
c.3132del (p.Met1044IlefsTer16)
c.*1615del (n.*1615del)
c.*3139del (n.*3139del)
c.2889del (p.Met963IlefsTer16)
c.63del (p.Met21IlefsTer16)
c.906del (p.Met302IlefsTer16)
c.965del
c.2097del (p.Met699IlefsTer16)
c.3225del (p.Met1075IlefsTer16)
c.140del
c.3405del (p.Met1135IlefsTer16)
c.3072del (p.Met1024IlefsTer16)
 ClinVar dbSNP
7g.117611756G>ACA368992503CFTRc.3315G>A (p.Met1105Ile)
c.*3029G>A (n.*3029G>A)
c.3132G>A (p.Met1044Ile)
c.*1615G>A (n.*1615G>A)
c.*3139G>A (n.*3139G>A)
c.2889G>A (p.Met963Ile)
c.63G>A (p.Met21Ile)
c.906G>A (p.Met302Ile)
c.965G>A
c.2097G>A (p.Met699Ile)
c.3225G>A (p.Met1075Ile)
c.140G>A
c.3405G>A (p.Met1135Ile)
c.3072G>A (p.Met1024Ile)
 COSMIC
7g.117611756G>CCA368992505CFTRc.3315G>C (p.Met1105Ile)
c.*3029G>C (n.*3029G>C)
c.3132G>C (p.Met1044Ile)
c.*1615G>C (n.*1615G>C)
c.*3139G>C (n.*3139G>C)
c.2889G>C (p.Met963Ile)
c.63G>C (p.Met21Ile)
c.906G>C (p.Met302Ile)
c.965G>C
c.2097G>C (p.Met699Ile)
c.3225G>C (p.Met1075Ile)
c.140G>C
c.3405G>C (p.Met1135Ile)
c.3072G>C (p.Met1024Ile)
7g.117611756G=CA1737387551CFTRc.3315G= (p.Met1105=)
c.*3029G= (n.*3029G=)
c.3132G= (p.Met1044=)
c.*1615G= (n.*1615G=)
c.*3139G= (n.*3139G=)
c.2889G= (p.Met963=)
c.63G= (p.Met21=)
c.906G= (p.Met302=)
c.965G=
c.2097G= (p.Met699=)
c.3225G= (p.Met1075=)
c.140G=
c.3405G= (p.Met1135=)
c.3072G= (p.Met1024=)
7g.117611756G>TCA368992507CFTRc.3315G>T (p.Met1105Ile)
c.*3029G>T (n.*3029G>T)
c.3132G>T (p.Met1044Ile)
c.*1615G>T (n.*1615G>T)
c.*3139G>T (n.*3139G>T)
c.2889G>T (p.Met963Ile)
c.63G>T (p.Met21Ile)
c.906G>T (p.Met302Ile)
c.965G>T
c.2097G>T (p.Met699Ile)
c.3225G>T (p.Met1075Ile)
c.140G>T
c.3405G>T (p.Met1135Ile)
c.3072G>T (p.Met1024Ile)
 ClinVar dbSNP
7g.117611756_117611757insCAAATAACATAAACACAAAATGTACA577680856CFTRc.3315_3316insCAAATAACATAAACACAAAATGTA
c.*3029_*3030insCAAATAACATAAACACAAAATGTA (n.*3029_*3030insCAAATAACATAAACACAAAATGTA)
c.3132_3133insCAAATAACATAAACACAAAATGTA
c.*1615_*1616insCAAATAACATAAACACAAAATGTA (n.*1615_*1616insCAAATAACATAAACACAAAATGTA)
c.*3139_*3140insCAAATAACATAAACACAAAATGTA (n.*3139_*3140insCAAATAACATAAACACAAAATGTA)
c.2889_2890insCAAATAACATAAACACAAAATGTA
c.63_64insCAAATAACATAAACACAAAATGTA
c.906_907insCAAATAACATAAACACAAAATGTA
c.965_966insCAAATAACATAAACACAAAATGTA
c.2097_2098insCAAATAACATAAACACAAAATGTA
c.3225_3226insCAAATAACATAAACACAAAATGTA
c.140_141insCAAATAACATAAACACAAAATGTA
c.3405_3406insCAAATAACATAAACACAAAATGTA
c.3072_3073insCAAATAACATAAACACAAAATGTA
 dbSNP gnomAD v2
7g.117611757A>CCA368992509CFTRc.3316A>C (p.Ile1106Leu)
c.*3030A>C (n.*3030A>C)
c.3133A>C (p.Ile1045Leu)
c.*1616A>C (n.*1616A>C)
c.*3140A>C (n.*3140A>C)
c.2890A>C (p.Ile964Leu)
c.64A>C (p.Ile22Leu)
c.907A>C (p.Ile303Leu)
c.966A>C
c.2098A>C (p.Ile700Leu)
c.3226A>C (p.Ile1076Leu)
c.141A>C
c.3406A>C (p.Ile1136Leu)
c.3073A>C (p.Ile1025Leu)
7g.117611757A>GCA368992511CFTRc.3316A>G (p.Ile1106Val)
c.*3030A>G (n.*3030A>G)
c.3133A>G (p.Ile1045Val)
c.*1616A>G (n.*1616A>G)
c.*3140A>G (n.*3140A>G)
c.2890A>G (p.Ile964Val)
c.64A>G (p.Ile22Val)
c.907A>G (p.Ile303Val)
c.966A>G
c.2098A>G (p.Ile700Val)
c.3226A>G (p.Ile1076Val)
c.141A>G
c.3406A>G (p.Ile1136Val)
c.3073A>G (p.Ile1025Val)
7g.117611757A>TCA368992512CFTRc.3316A>T (p.Ile1106Phe)
c.*3030A>T (n.*3030A>T)
c.3133A>T (p.Ile1045Phe)
c.*1616A>T (n.*1616A>T)
c.*3140A>T (n.*3140A>T)
c.2890A>T (p.Ile964Phe)
c.64A>T (p.Ile22Phe)
c.907A>T (p.Ile303Phe)
c.966A>T
c.2098A>T (p.Ile700Phe)
c.3226A>T (p.Ile1076Phe)
c.141A>T
c.3406A>T (p.Ile1136Phe)
c.3073A>T (p.Ile1025Phe)
7g.117611758T>ACA368992514CFTRc.3317T>A (p.Ile1106Asn)
c.*3031T>A (n.*3031T>A)
c.3134T>A (p.Ile1045Asn)
c.*1617T>A (n.*1617T>A)
c.*3141T>A (n.*3141T>A)
c.2891T>A (p.Ile964Asn)
c.65T>A (p.Ile22Asn)
c.908T>A (p.Ile303Asn)
c.967T>A
c.2099T>A (p.Ile700Asn)
c.3227T>A (p.Ile1076Asn)
c.142T>A
c.3407T>A (p.Ile1136Asn)
c.3074T>A (p.Ile1025Asn)
7g.117611758T>CCA4451423CFTRc.3317T>C (p.Ile1106Thr)
c.*3031T>C (n.*3031T>C)
c.3134T>C (p.Ile1045Thr)
c.*1617T>C (n.*1617T>C)
c.*3141T>C (n.*3141T>C)
c.2891T>C (p.Ile964Thr)
c.65T>C (p.Ile22Thr)
c.908T>C (p.Ile303Thr)
c.967T>C
c.2099T>C (p.Ile700Thr)
c.3227T>C (p.Ile1076Thr)
c.142T>C
c.3407T>C (p.Ile1136Thr)
c.3074T>C (p.Ile1025Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117611758T>GCA368992517CFTRc.3317T>G (p.Ile1106Ser)
c.*3031T>G (n.*3031T>G)
c.3134T>G (p.Ile1045Ser)
c.*1617T>G (n.*1617T>G)
c.*3141T>G (n.*3141T>G)
c.2891T>G (p.Ile964Ser)
c.65T>G (p.Ile22Ser)
c.908T>G (p.Ile303Ser)
c.967T>G
c.2099T>G (p.Ile700Ser)
c.3227T>G (p.Ile1076Ser)
c.142T>G
c.3407T>G (p.Ile1136Ser)
c.3074T>G (p.Ile1025Ser)
 gnomAD v4
7g.117611758T=CA1737387565CFTRc.3317T= (p.Ile1106=)
c.*3031T= (n.*3031T=)
c.3134T= (p.Ile1045=)
c.*1617T= (n.*1617T=)
c.*3141T= (n.*3141T=)
c.2891T= (p.Ile964=)
c.65T= (p.Ile22=)
c.908T= (p.Ile303=)
c.967T=
c.2099T= (p.Ile700=)
c.3227T= (p.Ile1076=)
c.142T=
c.3407T= (p.Ile1136=)
c.3074T= (p.Ile1025=)
7g.117611759T>ACA457230076CFTRc.3318T>A (p.Ile1106=)
c.*3032T>A (n.*3032T>A)
c.3135T>A (p.Ile1045=)
c.*1618T>A (n.*1618T>A)
c.*3142T>A (n.*3142T>A)
c.2892T>A (p.Ile964=)
c.66T>A (p.Ile22=)
c.909T>A (p.Ile303=)
c.968T>A
c.2100T>A (p.Ile700=)
c.3228T>A (p.Ile1076=)
c.143T>A
c.3408T>A (p.Ile1136=)
c.3075T>A (p.Ile1025=)
 ClinVar dbSNP
7g.117611759T>CCA457230077CFTRc.3318T>C (p.Ile1106=)
c.*3032T>C (n.*3032T>C)
c.3135T>C (p.Ile1045=)
c.*1618T>C (n.*1618T>C)
c.*3142T>C (n.*3142T>C)
c.2892T>C (p.Ile964=)
c.66T>C (p.Ile22=)
c.909T>C (p.Ile303=)
c.968T>C
c.2100T>C (p.Ile700=)
c.3228T>C (p.Ile1076=)
c.143T>C
c.3408T>C (p.Ile1136=)
c.3075T>C (p.Ile1025=)
7g.117611759T>GCA368992519CFTRc.3318T>G (p.Ile1106Met)
c.*3032T>G (n.*3032T>G)
c.3135T>G (p.Ile1045Met)
c.*1618T>G (n.*1618T>G)
c.*3142T>G (n.*3142T>G)
c.2892T>G (p.Ile964Met)
c.66T>G (p.Ile22Met)
c.909T>G (p.Ile303Met)
c.968T>G
c.2100T>G (p.Ile700Met)
c.3228T>G (p.Ile1076Met)
c.143T>G
c.3408T>G (p.Ile1136Met)
c.3075T>G (p.Ile1025Met)
7g.117611760T>ACA368992522CFTRc.3319T>A (p.Phe1107Ile)
c.*3033T>A (n.*3033T>A)
c.3136T>A (p.Phe1046Ile)
c.*1619T>A (n.*1619T>A)
c.*3143T>A (n.*3143T>A)
c.2893T>A (p.Phe965Ile)
c.67T>A (p.Phe23Ile)
c.910T>A (p.Phe304Ile)
c.969T>A
c.2101T>A (p.Phe701Ile)
c.3229T>A (p.Phe1077Ile)
c.144T>A
c.3409T>A (p.Phe1137Ile)
c.3076T>A (p.Phe1026Ile)
7g.117611760T>CCA368992523CFTRc.3319T>C (p.Phe1107Leu)
c.*3033T>C (n.*3033T>C)
c.3136T>C (p.Phe1046Leu)
c.*1619T>C (n.*1619T>C)
c.*3143T>C (n.*3143T>C)
c.2893T>C (p.Phe965Leu)
c.67T>C (p.Phe23Leu)
c.910T>C (p.Phe304Leu)
c.969T>C
c.2101T>C (p.Phe701Leu)
c.3229T>C (p.Phe1077Leu)
c.144T>C
c.3409T>C (p.Phe1137Leu)
c.3076T>C (p.Phe1026Leu)
 ClinVar dbSNP
7g.117611760T>GCA368992525CFTRc.3319T>G (p.Phe1107Val)
c.*3033T>G (n.*3033T>G)
c.3136T>G (p.Phe1046Val)
c.*1619T>G (n.*1619T>G)
c.*3143T>G (n.*3143T>G)
c.2893T>G (p.Phe965Val)
c.67T>G (p.Phe23Val)
c.910T>G (p.Phe304Val)
c.969T>G
c.2101T>G (p.Phe701Val)
c.3229T>G (p.Phe1077Val)
c.144T>G
c.3409T>G (p.Phe1137Val)
c.3076T>G (p.Phe1026Val)
7g.117611760T=CA1737387569CFTRc.3319T= (p.Phe1107=)
c.*3033T= (n.*3033T=)
c.3136T= (p.Phe1046=)
c.*1619T= (n.*1619T=)
c.*3143T= (n.*3143T=)
c.2893T= (p.Phe965=)
c.67T= (p.Phe23=)
c.910T= (p.Phe304=)
c.969T=
c.2101T= (p.Phe701=)
c.3229T= (p.Phe1077=)
c.144T=
c.3409T= (p.Phe1137=)
c.3076T= (p.Phe1026=)
7g.117611761T>ACA368992527CFTRc.3320T>A (p.Phe1107Tyr)
c.*3034T>A (n.*3034T>A)
c.3137T>A (p.Phe1046Tyr)
c.*1620T>A (n.*1620T>A)
c.*3144T>A (n.*3144T>A)
c.2894T>A (p.Phe965Tyr)
c.68T>A (p.Phe23Tyr)
c.911T>A (p.Phe304Tyr)
c.970T>A
c.2102T>A (p.Phe701Tyr)
c.3230T>A (p.Phe1077Tyr)
c.145T>A
c.3410T>A (p.Phe1137Tyr)
c.3077T>A (p.Phe1026Tyr)
7g.117611761T>CCA368992529CFTRc.3320T>C (p.Phe1107Ser)
c.*3034T>C (n.*3034T>C)
c.3137T>C (p.Phe1046Ser)
c.*1620T>C (n.*1620T>C)
c.*3144T>C (n.*3144T>C)
c.2894T>C (p.Phe965Ser)
c.68T>C (p.Phe23Ser)
c.911T>C (p.Phe304Ser)
c.970T>C
c.2102T>C (p.Phe701Ser)
c.3230T>C (p.Phe1077Ser)
c.145T>C
c.3410T>C (p.Phe1137Ser)
c.3077T>C (p.Phe1026Ser)
7g.117611761T>GCA368992531CFTRc.3320T>G (p.Phe1107Cys)
c.*3034T>G (n.*3034T>G)
c.3137T>G (p.Phe1046Cys)
c.*1620T>G (n.*1620T>G)
c.*3144T>G (n.*3144T>G)
c.2894T>G (p.Phe965Cys)
c.68T>G (p.Phe23Cys)
c.911T>G (p.Phe304Cys)
c.970T>G
c.2102T>G (p.Phe701Cys)
c.3230T>G (p.Phe1077Cys)
c.145T>G
c.3410T>G (p.Phe1137Cys)
c.3077T>G (p.Phe1026Cys)

Number of alleles fetched