Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117602152_117612006del | CA325806 | CFTR | c.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 | |
7 | g.117602152_117612040del | CA2499218685 | CFTR | c.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 |
7 | g.117604867_117612068del | CA913190213 | CFTR | c.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 |
7 | g.117606038_117613002delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG | CA2580076402 | CFTR | c.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 |
7 | g.117606676_117611810del | CA913190200 | CFTR | c.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 |
7 | g.117607926_117616824del | CA1139532136 | CFTR | c.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 | |
7 | g.117608369_117612164delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC | CA2580076408 | CFTR | c.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 |
7 | g.117609542_117612056del | CA325807 | CFTR | c.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 |
7 | g.117610519_117611808del | CA913189830 | CFTR | c.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 |
7 | g.117610519_117614713del | CA913189831 | CFTR | c.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 |
7 | g.117611582_117614714del | CA913189834 | CFTR | c.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 |
7 | g.117611633_117611717del | CA2697557585 | CFTR | c.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 |
7 | g.117611663T>A | CA327103 | CFTR | c.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 |
7 | g.117611663T>C | CA457230024 | CFTR | c.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=) | |
7 | g.117611663T>G | CA368992145 | CFTR | c.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 |
7 | g.117611663T= | CA1737387082 | CFTR | c.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=) | |
7 | g.117611664G>A | CA368992146 | CFTR | c.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) | |
7 | g.117611664G>C | CA368992147 | CFTR | c.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) | |
7 | g.117611664G>T | CA368992149 | CFTR | c.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) | |
7 | g.117611665A>C | CA368992153 | CFTR | c.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) | |
7 | g.117611665A>G | CA368992154 | CFTR | c.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) | |
7 | g.117611665A>T | CA368992151 | CFTR | c.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) | |
7 | g.117611666A>C | CA368992158 | CFTR | c.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) | |
7 | g.117611666A>G | CA457230025 | CFTR | c.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=) | |
7 | g.117611666A>T | CA368992156 | CFTR | c.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) | |
7 | g.117611667A>C | CA368992164 | CFTR | c.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 |
7 | g.117611667A>G | CA368992160 | CFTR | c.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 |
7 | g.117611667A>T | CA368992162 | CFTR | c.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) | |
7 | g.117611667_117611668del | CA2695208434 | CFTR | c.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?) | |
7 | g.117611667_117611669delinsACT | CA1737387089 | CFTR | c.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=) | |
7 | g.117611668C>A | CA368992165 | CFTR | c.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 |
7 | g.117611668C>G | CA368992167 | CFTR | c.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) | |
7 | g.117611668C>T | CA368992169 | CFTR | c.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) | |
7 | g.117611670_117611671del | CA327105 | CFTR | c.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 |
7 | g.117611669T>A | CA457230026 | CFTR | c.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=) | |
7 | g.117611669T>C | CA457230027 | CFTR | c.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=) | |
7 | g.117611669T>G | CA457230028 | CFTR | c.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=) | |
7 | g.117611671_117611675del | CA2695208435 | CFTR | c.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?) | |
7 | g.117611670C>A | CA368992172 | CFTR | c.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) | |
7 | g.117611670C= | CA1737387098 | CFTR | c.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=) | |
7 | g.117611670C>G | CA368992174 | CFTR | c.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 |
7 | g.117611670C>T | CA457230029 | CFTR | c.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 |
7 | g.117611670_117611672delinsCTG | CA1737387099 | CFTR | c.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=) | |
7 | g.117611671T>A | CA368992176 | CFTR | c.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) | |
7 | g.117611671T>C | CA328111 | CFTR | c.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 |
7 | g.117611671T>G | CA368992179 | CFTR | c.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) | |
7 | g.117611671T= | CA1737387109 | CFTR | c.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=) | |
7 | g.117611672_117611673del | CA4451410 | CFTR | c.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 |
7 | g.117611672G>A | CA457230030 | CFTR | c.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=) | |
7 | g.117611672G>C | CA457230031 | CFTR | c.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=) | |
7 | g.117611672G>T | CA457230032 | CFTR | c.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=) | |
7 | g.117611673T>A | CA368992185 | CFTR | c.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) | |
7 | g.117611673T>C | CA368992182 | CFTR | c.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) | |
7 | g.117611673T>G | CA368992184 | CFTR | c.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) | |
7 | g.117611674T>A | CA368992188 | CFTR | c.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) | |
7 | g.117611674T>C | CA368992189 | CFTR | c.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) | |
7 | g.117611674T>G | CA368992190 | CFTR | c.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) | |
7 | g.117611675C>A | CA368992192 | CFTR | c.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) | |
7 | g.117611675C>G | CA368992194 | CFTR | c.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) | |
7 | g.117611675C>T | CA457230033 | CFTR | c.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 |
7 | g.117611676C>A | CA368992196 | CFTR | c.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) | |
7 | g.117611676C>G | CA368992197 | CFTR | c.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) | |
7 | g.117611676C>T | CA368992199 | CFTR | c.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 |
7 | g.117611677A= | CA1737387113 | CFTR | c.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=) | |
7 | g.117611677A>C | CA327106 | CFTR | c.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 |
7 | g.117611677A>G | CA368992202 | CFTR | c.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 |
7 | g.117611677A>T | CA368992204 | CFTR | c.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) | |
7 | g.117611678C>A | CA368992208 | CFTR | c.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) | |
7 | g.117611678C>G | CA368992206 | CFTR | c.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) | |
7 | g.117611678C>T | CA457230034 | CFTR | c.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 |
7 | g.117611679A= | CA1737387116 | CFTR | c.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=) | |
7 | g.117611679A>C | CA4451411 | CFTR | c.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 |
7 | g.117611679A>G | CA368992210 | CFTR | c.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 |
7 | g.117611679A>T | CA368992212 | CFTR | c.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) | |
7 | g.117611681dup | CA2695208436 | CFTR | c.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?) | |
7 | g.117611680A= | CA1737387121 | CFTR | c.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=) | |
7 | g.117611680A>C | CA368992214 | CFTR | c.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) | |
7 | g.117611680A>G | CA4451412 | CFTR | c.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 |
7 | g.117611680A>T | CA368992216 | CFTR | c.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) | |
7 | g.117611681A>C | CA368992217 | CFTR | c.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 |
7 | g.117611681A>G | CA457230035 | CFTR | c.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=) | |
7 | g.117611681A>T | CA368992218 | CFTR | c.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) | |
7 | g.117611682del | CA2580610970 | CFTR | c.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) | |
7 | g.117611682G>A | CA368992220 | CFTR | c.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) | |
7 | g.117611682G>C | CA327110 | CFTR | c.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 |
7 | g.117611682G= | CA1737387130 | CFTR | c.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=) | |
7 | g.117611682G>T | CA368992222 | CFTR | c.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) | |
7 | g.117611683C>A | CA368992224 | CFTR | c.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) | |
7 | g.117611683C= | CA1737387139 | CFTR | c.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=) | |
7 | g.117611683C>G | CA368992226 | CFTR | c.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) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117611683C>T | CA368992228 | CFTR | c.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 |
7 | g.117611684T>A | CA457230036 | CFTR | c.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=) | |
7 | g.117611684T>C | CA457230037 | CFTR | c.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=) | |
7 | g.117611684T>G | CA457230038 | CFTR | c.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=) | |
7 | g.117611685C>A | CA368992230 | CFTR | c.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) | |
7 | g.117611685C>G | CA368992232 | CFTR | c.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) | |
7 | g.117611685C>T | CA457230039 | CFTR | c.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=) | ClinVar |
7 | g.117611686T>A | CA368992233 | CFTR | c.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) | |
7 | g.117611686T>C | CA368992235 | CFTR | c.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 |
7 | g.117611686T>G | CA368992237 | CFTR | c.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) | |
7 | g.117611687G>A | CA457230040 | CFTR | c.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=) | |
7 | g.117611687G>C | CA457230041 | CFTR | c.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=) | |
7 | g.117611687G= | CA1737387142 | CFTR | c.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=) | |
7 | g.117611687G>T | CA457230042 | CFTR | c.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 |
7 | g.117611688A>C | CA368992239 | CFTR | c.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) | |
7 | g.117611688A>G | CA368992240 | CFTR | c.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 |
7 | g.117611688A>T | CA368992242 | CFTR | c.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) | |
7 | g.117611689A>C | CA368992243 | CFTR | c.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) | |
7 | g.117611689A>G | CA368992245 | CFTR | c.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) | |
7 | g.117611689A>T | CA368992247 | CFTR | c.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) | |
7 | g.117611690T>A | CA368992248 | CFTR | c.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 |
7 | g.117611690T>C | CA457230043 | CFTR | c.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 |
7 | g.117611690T>G | CA368992250 | CFTR | c.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) | |
7 | g.117611690T= | CA1737387146 | CFTR | c.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=) | |
7 | g.117611691T>A | CA368992252 | CFTR | c.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) | |
7 | g.117611691T>C | CA457230044 | CFTR | c.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=) | |
7 | g.117611691T>G | CA368992253 | CFTR | c.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) | |
7 | g.117611692T>A | CA368992257 | CFTR | c.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) | |
7 | g.117611692T>C | CA368992258 | CFTR | c.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) | |
7 | g.117611692T>G | CA368992255 | CFTR | c.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) | |
7 | g.117611693A= | CA1737387150 | CFTR | c.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=) | |
7 | g.117611693A>C | CA368992263 | CFTR | c.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) | |
7 | g.117611693A>G | CA164966497 | CFTR | c.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 |
7 | g.117611693A>T | CA368992261 | CFTR | c.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) | |
7 | g.117611694C>A | CA368992265 | CFTR | c.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) | |
7 | g.117611694C>G | CA368992267 | CFTR | c.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) | |
7 | g.117611694C>T | CA368992269 | CFTR | c.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) | |
7 | g.117611695A= | CA1737387156 | CFTR | c.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=) | |
7 | g.117611695A>C | CA368992270 | CFTR | c.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 |
7 | g.117611695A>G | CA325598 | CFTR | c.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 |
7 | g.117611695A>T | CA368992273 | CFTR | c.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) | |
7 | g.117611696T>A | CA368992275 | CFTR | c.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) | |
7 | g.117611696T>C | CA457230045 | CFTR | c.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=) | |
7 | g.117611696T>G | CA368992276 | CFTR | c.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) | |
7 | g.117611697A= | CA1737387169 | CFTR | c.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=) | |
7 | g.117611697A>C | CA368992279 | CFTR | c.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) | |
7 | g.117611697A>G | CA368992280 | CFTR | c.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 |
7 | g.117611697A>T | CA16612278 | CFTR | c.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 |
7 | g.117611698C>A | CA368992286 | CFTR | c.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) | |
7 | g.117611698C= | CA1737387180 | CFTR | c.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=) | |
7 | g.117611698C>G | CA368992283 | CFTR | c.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) | |
7 | g.117611698C>T | CA327112 | CFTR | c.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 |
7 | g.117611699T>A | CA457230047 | CFTR | c.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=) | |
7 | g.117611699T>C | CA457230048 | CFTR | c.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 |
7 | g.117611699T>G | CA457230046 | CFTR | c.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=) | |
7 | g.117611699T= | CA1737387186 | CFTR | c.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=) | |
7 | g.117611700G>A | CA368992287 | CFTR | c.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) | |
7 | g.117611700G>C | CA368992288 | CFTR | c.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 |
7 | g.117611700G= | CA1737387190 | CFTR | c.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=) | |
7 | g.117611700G>T | CA164966526 | CFTR | c.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 |
7 | g.117611701C>A | CA368992290 | CFTR | c.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) | |
7 | g.117611701C= | CA1737387195 | CFTR | c.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=) | |
7 | g.117611701C>G | CA368992291 | CFTR | c.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) | |
7 | g.117611701C>T | CA164966544 | CFTR | c.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 |
7 | g.117611702C>A | CA457230049 | CFTR | c.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=) | |
7 | g.117611702C= | CA1737387198 | CFTR | c.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=) | |
7 | g.117611702C>G | CA457230050 | CFTR | c.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=) | |
7 | g.117611702C>T | CA457230051 | CFTR | c.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=) | |
7 | g.117611703A= | CA1737387204 | CFTR | c.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=) | |
7 | g.117611703A>C | CA368992294 | CFTR | c.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 |
7 | g.117611703A>G | CA327116 | CFTR | c.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 |
7 | g.117611703A>T | CA368992296 | CFTR | c.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) | |
7 | g.117611704dup | CA327118 | CFTR | c.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 |
7 | g.117611704A= | CA1737387221 | CFTR | c.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=) | |
7 | g.117611704A>C | CA368992297 | CFTR | c.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) | |
7 | g.117611704A>G | CA368992298 | CFTR | c.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 |
7 | g.117611704A>T | CA368992299 | CFTR | c.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) | |
7 | g.117611704_117611705delinsAC | CA1737387218 | CFTR | c.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=) | |
7 | g.117611705del | CA327119 | CFTR | c.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 |
7 | g.117611705C>A | CA368992304 | CFTR | c.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) | |
7 | g.117611705C>G | CA368992302 | CFTR | c.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) | |
7 | g.117611705C>T | CA457230052 | CFTR | c.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=) | ClinVar |
7 | g.117611706T>A | CA368992305 | CFTR | c.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) | |
7 | g.117611706T>C | CA368992309 | CFTR | c.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) | |
7 | g.117611706T>G | CA368992307 | CFTR | c.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) | |
7 | g.117611707G>A | CA340653 | CFTR | c.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 |
7 | g.117611707G>C | CA368992312 | CFTR | c.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) | |
7 | g.117611707G= | CA1737387240 | CFTR | c.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=) | |
7 | g.117611707G>T | CA368992313 | CFTR | c.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 |
7 | g.117611708G>A | CA368992315 | CFTR | c.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 |
7 | g.117611708G>C | CA4451413 | CFTR | c.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 |
7 | g.117611708G= | CA1737387253 | CFTR | c.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=) | |
7 | g.117611708G>T | CA368992318 | CFTR | c.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) | |
7 | g.117611709T>A | CA368992319 | CFTR | c.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) | |
7 | g.117611709T>C | CA368992320 | CFTR | c.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) | |
7 | g.117611709T>G | CA368992322 | CFTR | c.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) | |
7 | g.117611710T>A | CA368992325 | CFTR | c.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) | |
7 | g.117611710T>C | CA368992326 | CFTR | c.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) | |
7 | g.117611710T>G | CA368992328 | CFTR | c.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) | |
7 | g.117611711C>A | CA368992330 | CFTR | c.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) | |
7 | g.117611711C= | CA1737387262 | CFTR | c.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=) | |
7 | g.117611711C>G | CA368992331 | CFTR | c.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 |
7 | g.117611711C>T | CA457230053 | CFTR | c.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 |
7 | g.117611712T>A | CA368992334 | CFTR | c.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) | |
7 | g.117611712T>C | CA457230054 | CFTR | c.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=) | |
7 | g.117611712T>G | CA368992335 | CFTR | c.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) | |
7 | g.117611713T>A | CA368992337 | CFTR | c.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) | |
7 | g.117611713T>C | CA368992338 | CFTR | c.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) | |
7 | g.117611713T>G | CA368992341 | CFTR | c.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) | |
7 | g.117611714G>A | CA457230055 | CFTR | c.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 |
7 | g.117611714G>C | CA4451414 | CFTR | c.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 |
7 | g.117611714G= | CA1737387266 | CFTR | c.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=) | |
7 | g.117611714G>T | CA368992343 | CFTR | c.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 |
7 | g.117611715T>A | CA368992345 | CFTR | c.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) | |
7 | g.117611715T>C | CA4451415 | CFTR | c.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 |
7 | g.117611715T>G | CA368992347 | CFTR | c.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) | |
7 | g.117611715T= | CA1737387275 | CFTR | c.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=) | |
7 | g.117611716A= | CA1737387289 | CFTR | c.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=) | |
7 | g.117611716A>C | CA368992349 | CFTR | c.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) | |
7 | g.117611716A>G | CA4451416 | CFTR | c.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 |
7 | g.117611716A>T | CA368992351 | CFTR | c.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) | |
7 | g.117611717C>A | CA269813 | CFTR | c.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 |
7 | g.117611717C= | CA1737387303 | CFTR | c.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=) | |
7 | g.117611717C>G | CA269811 | CFTR | c.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 |
7 | g.117611717C>T | CA457230056 | CFTR | c.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 |
7 | g.117611718C>A | CA368992353 | CFTR | c.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 |
7 | g.117611718C>G | CA368992354 | CFTR | c.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 |
7 | g.117611718C>T | CA457230057 | CFTR | c.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=) | |
7 | g.117611719T>A | CA368992356 | CFTR | c.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) | |
7 | g.117611719T>C | CA327121 | CFTR | c.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 |
7 | g.117611719T>G | CA368992357 | CFTR | c.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) | |
7 | g.117611719T= | CA1737387311 | CFTR | c.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=) | |
7 | g.117611720G>A | CA457230058 | CFTR | c.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=) | |
7 | g.117611720G>C | CA457230060 | CFTR | c.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=) | |
7 | g.117611720G>T | CA457230059 | CFTR | c.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 |
7 | g.117611721T>A | CA368992360 | CFTR | c.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) | |
7 | g.117611721T>C | CA368992363 | CFTR | c.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 |
7 | g.117611721T>G | CA368992361 | CFTR | c.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) | |
7 | g.117611721_117612076delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC | CA1737387315 | CFTR | c.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 | |
7 | g.117611722C>A | CA368992366 | CFTR | c.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) | |
7 | g.117611722C>G | CA368992368 | CFTR | c.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 |
7 | g.117611722C>T | CA368992370 | CFTR | c.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) | |
7 | g.117611722_117612076delinsTGTTAA | CA327125 | CFTR | c.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 |
7 | g.117611723A= | CA1737387330 | CFTR | c.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=) | |
7 | g.117611723A>C | CA457230061 | CFTR | c.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 |
7 | g.117611723A>G | CA4451417 | CFTR | c.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 |
7 | g.117611723A>T | CA457230062 | CFTR | c.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=) | |
7 | g.117611724A>C | CA368992374 | CFTR | c.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) | |
7 | g.117611724A>G | CA368992375 | CFTR | c.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) | |
7 | g.117611724A>T | CA368992377 | CFTR | c.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) | |
7 | g.117611725C>A | CA368992378 | CFTR | c.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) | |
7 | g.117611725C>G | CA368992380 | CFTR | c.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) | |
7 | g.117611725C>T | CA368992381 | CFTR | c.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) | |
7 | g.117611726A= | CA1737387344 | CFTR | c.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=) | |
7 | g.117611726A>C | CA457230063 | CFTR | c.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=) | |
7 | g.117611726A>G | CA457230064 | CFTR | c.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 |
7 | g.117611726A>T | CA241893 | CFTR | c.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 |
7 | g.117611727C>A | CA368992385 | CFTR | c.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) | |
7 | g.117611727C= | CA1737387359 | CFTR | c.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=) | |
7 | g.117611727C>G | CA368992386 | CFTR | c.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) | |
7 | g.117611727C>T | CA164966615 | CFTR | c.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 |
7 | g.117611727_117611728delinsCT | CA1737387356 | CFTR | c.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=) | |
7 | g.117611728del | CA327126 | CFTR | c.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 |
7 | g.117611728T>A | CA368992392 | CFTR | c.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) | |
7 | g.117611728T>C | CA368992389 | CFTR | c.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) | |
7 | g.117611728T>G | CA164966621 | CFTR | c.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 |
7 | g.117611728T= | CA1737387370 | CFTR | c.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=) | |
7 | g.117611729G>A | CA164966630 | CFTR | c.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 |
7 | g.117611729G>C | CA457230065 | CFTR | c.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=) | |
7 | g.117611729G= | CA1737387375 | CFTR | c.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=) | |
7 | g.117611729G>T | CA457230066 | CFTR | c.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 |
7 | g.117611730C>A | CA368992394 | CFTR | c.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) | |
7 | g.117611730C= | CA1737387378 | CFTR | c.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=) | |
7 | g.117611730C>G | CA368992396 | CFTR | c.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 |
7 | g.117611730C>T | CA4451418 | CFTR | c.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 |
7 | g.117611731G>A | CA4451419 | CFTR | c.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 |
7 | g.117611731G>C | CA368992400 | CFTR | c.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 |
7 | g.117611731G= | CA1737387388 | CFTR | c.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=) | |
7 | g.117611731G>T | CA368992402 | CFTR | c.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 |
7 | g.117611732del | CA2695208437 | CFTR | c.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) | |
7 | g.117611732C>A | CA457230067 | CFTR | c.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=) | |
7 | g.117611732C>G | CA457230069 | CFTR | c.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=) | |
7 | g.117611732C>T | CA457230068 | CFTR | c.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=) | |
7 | g.117611733T>A | CA368992404 | CFTR | c.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) | |
7 | g.117611733T>C | CA327130 | CFTR | c.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 |
7 | g.117611733T>G | CA368992407 | CFTR | c.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 |
7 | g.117611733T= | CA1737387396 | CFTR | c.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=) | |
7 | g.117611733_117611734delinsTG | CA1737387406 | CFTR | c.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=) | |
7 | g.117611734G>A | CA327131 | CFTR | c.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 |
7 | g.117611734G>C | CA368992410 | CFTR | c.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 |
7 | g.117611734G= | CA1737387413 | CFTR | c.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=) | |
7 | g.117611734G>T | CA368992413 | CFTR | c.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 |
7 | g.117611735del | CA327134 | CFTR | c.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 |
7 | g.117611735G>A | CA276112 | CFTR | c.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 |
7 | g.117611735G>C | CA327132 | CFTR | c.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 |
7 | g.117611735G= | CA1737387422 | CFTR | c.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=) | |
7 | g.117611735G>T | CA368992416 | CFTR | c.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 |
7 | g.117611736T>A | CA368992417 | CFTR | c.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) | |
7 | g.117611736T>C | CA368992419 | CFTR | c.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) | |
7 | g.117611736T>G | CA368992421 | CFTR | c.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) | |
7 | g.117611737T>A | CA368992423 | CFTR | c.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) | |
7 | g.117611737T>C | CA368992425 | CFTR | c.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) | |
7 | g.117611737T>G | CA368992427 | CFTR | c.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) | |
7 | g.117611738C>A | CA4451420 | CFTR | c.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 |
7 | g.117611738C= | CA1737387437 | CFTR | c.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=) | |
7 | g.117611738C>G | CA368992429 | CFTR | c.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) | |
7 | g.117611738C>T | CA164966707 | CFTR | c.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 |
7 | g.117611739C>A | CA368992433 | CFTR | c.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) | |
7 | g.117611739C>G | CA368992430 | CFTR | c.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) | |
7 | g.117611739C>T | CA368992431 | CFTR | c.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) | |
7 | g.117611740A= | CA1737387449 | CFTR | c.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=) | |
7 | g.117611740A>C | CA327135 | CFTR | c.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 |
7 | g.117611740A>G | CA368992435 | CFTR | c.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 |
7 | g.117611740A>T | CA368992436 | CFTR | c.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) | |
7 | g.117611742dup | CA2840245475 | CFTR | c.3301dup (p.Met1101AsnfsTer?) c.*3015dup (n.*3015dup) c.3118dup (p.Met1040AsnfsTer?) c.*1601dup (n.*1601dup) c.*3125dup (n.*3125dup) c.2875dup (p.Met959AsnfsTer?) c.49dup (p.Met17AsnfsTer?) c.892dup (p.Met298AsnfsTer?) c.951dup c.2083dup (p.Met695AsnfsTer?) c.3211dup (p.Met1071AsnfsTer?) c.126dup c.3391dup (p.Met1131AsnfsTer?) c.3058dup (p.Met1020AsnfsTer?) | |
7 | g.117611742del | CA2573141589 | CFTR | c.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 |
7 | g.117611741A>C | CA368992438 | CFTR | c.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) | |
7 | g.117611741A>G | CA457230071 | CFTR | c.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=) | |
7 | g.117611741A>T | CA368992440 | CFTR | c.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) | |
7 | g.117611742A>C | CA368992442 | CFTR | c.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) | |
7 | g.117611742A>G | CA368992444 | CFTR | c.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) | |
7 | g.117611742A>T | CA368992446 | CFTR | c.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) | |
7 | g.117611743T>A | CA221025 | CFTR | c.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 |
7 | g.117611743T>C | CA368992448 | CFTR | c.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) | |
7 | g.117611743T>G | CA327137 | CFTR | c.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 |
7 | g.117611743T= | CA1737387457 | CFTR | c.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=) | |
7 | g.117611744G>A | CA4451421 | CFTR | c.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 |
7 | g.117611744G>C | CA368992454 | CFTR | c.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) | |
7 | g.117611744G= | CA1737387466 | CFTR | c.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=) | |
7 | g.117611744G>T | CA368992452 | CFTR | c.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) | |
7 | g.117611744_117611745delinsAG | CA2580076386 | CFTR | c.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 |
7 | g.117611745A= | CA1737387470 | CFTR | c.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=) | |
7 | g.117611745A>C | CA457230072 | CFTR | c.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=) | |
7 | g.117611745A>G | CA368992457 | CFTR | c.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) | |
7 | g.117611745A>T | CA327138 | CFTR | c.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 |
7 | g.117611746G>A | CA164966739 | CFTR | c.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 |
7 | g.117611746G>C | CA368992460 | CFTR | c.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) | |
7 | g.117611746G= | CA1737387478 | CFTR | c.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=) | |
7 | g.117611746G>T | CA368992462 | CFTR | c.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) | |
7 | g.117611747A= | CA1737387487 | CFTR | c.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=) | |
7 | g.117611747A>C | CA368992464 | CFTR | c.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 |
7 | g.117611747A>G | CA4451422 | CFTR | c.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 |
7 | g.117611747A>T | CA368992465 | CFTR | c.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) | |
7 | g.117611748del | CA2695208438 | CFTR | c.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) | |
7 | g.117611748A>C | CA368992467 | CFTR | c.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) | |
7 | g.117611748A>G | CA368992469 | CFTR | c.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 |
7 | g.117611748A>T | CA368992470 | CFTR | c.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) | |
7 | g.117611749T>A | CA368992473 | CFTR | c.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) | |
7 | g.117611749T>C | CA368992474 | CFTR | c.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 |
7 | g.117611749T>G | CA368992476 | CFTR | c.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 |
7 | g.117611749T= | CA1737387495 | CFTR | c.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=) | |
7 | g.117611750A= | CA1737387504 | CFTR | c.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=) | |
7 | g.117611750A>C | CA457230073 | CFTR | c.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=) | |
7 | g.117611750A>G | CA368992478 | CFTR | c.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 |
7 | g.117611750A>T | CA457230074 | CFTR | c.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=) | |
7 | g.117611751G>A | CA368992480 | CFTR | c.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) | |
7 | g.117611751G>C | CA368992483 | CFTR | c.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) | |
7 | g.117611751G= | CA1737387511 | CFTR | c.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=) | |
7 | g.117611751G>T | CA328113 | CFTR | c.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 |
7 | g.117611752A>C | CA368992484 | CFTR | c.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) | |
7 | g.117611752A>G | CA368992486 | CFTR | c.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) | |
7 | g.117611752A>T | CA368992488 | CFTR | c.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) | |
7 | g.117611754del | CA2684588444 | CFTR | c.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 |
7 | g.117611753A>C | CA368992490 | CFTR | c.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) | |
7 | g.117611753A>G | CA457230075 | CFTR | c.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=) | |
7 | g.117611753A>T | CA368992492 | CFTR | c.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) | |
7 | g.117611754A= | CA1737387519 | CFTR | c.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=) | |
7 | g.117611754A>C | CA368992494 | CFTR | c.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) | |
7 | g.117611754A>G | CA368992496 | CFTR | c.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 |
7 | g.117611754A>T | CA368992498 | CFTR | c.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) | |
7 | g.117611754_117611755insACAT | CA577680855 | CFTR | c.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 |
7 | g.117611755T>A | CA368992500 | CFTR | c.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) | |
7 | g.117611755T>C | CA368992502 | CFTR | c.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) | |
7 | g.117611755T>G | CA327142 | CFTR | c.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 |
7 | g.117611755T= | CA1737387528 | CFTR | c.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=) | |
7 | g.117611755_117611756delinsTG | CA1737387533 | CFTR | c.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=) | |
7 | g.117611756del | CA327144 | CFTR | c.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 |
7 | g.117611756G>A | CA368992503 | CFTR | c.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 |
7 | g.117611756G>C | CA368992505 | CFTR | c.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) | |
7 | g.117611756G= | CA1737387551 | CFTR | c.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=) | |
7 | g.117611756G>T | CA368992507 | CFTR | c.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 |
7 | g.117611756_117611757insCAAATAACATAAACACAAAATGTA | CA577680856 | CFTR | c.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 |
7 | g.117611757A>C | CA368992509 | CFTR | c.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) | |
7 | g.117611757A>G | CA368992511 | CFTR | c.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) | |
7 | g.117611757A>T | CA368992512 | CFTR | c.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) | |
7 | g.117611758T>A | CA368992514 | CFTR | c.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) | |
7 | g.117611758T>C | CA4451423 | CFTR | c.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 |
7 | g.117611758T>G | CA368992517 | CFTR | c.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 |
7 | g.117611758T= | CA1737387565 | CFTR | c.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=) | |
7 | g.117611759T>A | CA457230076 | CFTR | c.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 |
7 | g.117611759T>C | CA457230077 | CFTR | c.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=) | |
7 | g.117611759T>G | CA368992519 | CFTR | c.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) | |
7 | g.117611760T>A | CA368992522 | CFTR | c.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) | |
7 | g.117611760T>C | CA368992523 | CFTR | c.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 |
7 | g.117611760T>G | CA368992525 | CFTR | c.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) | |
7 | g.117611760T= | CA1737387569 | CFTR | c.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=) | |
7 | g.117611761T>A | CA368992527 | CFTR | c.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) | |
7 | g.117611761T>C | CA368992529 | CFTR | c.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) | |
7 | g.117611761T>G | CA368992531 | CFTR | c.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) | |
7 | g.117611762T>A | CA368992532 | CFTR | c.3321T>A (p.Phe1107Leu) c.*3035T>A (n.*3035T>A) c.3138T>A (p.Phe1046Leu) c.*1621T>A (n.*1621T>A) c.*3145T>A (n.*3145T>A) c.2895T>A (p.Phe965Leu) c.69T>A (p.Phe23Leu) c.912T>A (p.Phe304Leu) c.971T>A c.2103T>A (p.Phe701Leu) c.3231T>A (p.Phe1077Leu) c.146T>A c.3411T>A (p.Phe1137Leu) c.3078T>A (p.Phe1026Leu) | |
7 | g.117611762T>C | CA457230080 | CFTR | c.3321T>C (p.Phe1107=) c.*3035T>C (n.*3035T>C) c.3138T>C (p.Phe1046=) c.*1621T>C (n.*1621T>C) c.*3145T>C (n.*3145T>C) c.2895T>C (p.Phe965=) c.69T>C (p.Phe23=) c.912T>C (p.Phe304=) c.971T>C c.2103T>C (p.Phe701=) c.3231T>C (p.Phe1077=) c.146T>C c.3411T>C (p.Phe1137=) c.3078T>C (p.Phe1026=) | |
7 | g.117611762T>G | CA368992534 | CFTR | c.3321T>G (p.Phe1107Leu) c.*3035T>G (n.*3035T>G) c.3138T>G (p.Phe1046Leu) c.*1621T>G (n.*1621T>G) c.*3145T>G (n.*3145T>G) c.2895T>G (p.Phe965Leu) c.69T>G (p.Phe23Leu) c.912T>G (p.Phe304Leu) c.971T>G c.2103T>G (p.Phe701Leu) c.3231T>G (p.Phe1077Leu) c.146T>G c.3411T>G (p.Phe1137Leu) c.3078T>G (p.Phe1026Leu) | |
7 | g.117611763_117611764del | CA2580076387 | CFTR | c.3322_3323del (p.Val1108HisfsTer?) c.*3036_*3037del (n.*3036_*3037del) c.3139_3140del (p.Val1047HisfsTer?) c.*1622_*1623del (n.*1622_*1623del) c.*3146_*3147del (n.*3146_*3147del) c.2896_2897del (p.Val966HisfsTer?) c.70_71del (p.Val24HisfsTer?) c.913_914del (p.Val305HisfsTer?) c.972_973del c.2104_2105del (p.Val702HisfsTer?) c.3232_3233del (p.Val1078HisfsTer?) c.147_148del c.3412_3413del (p.Val1138HisfsTer?) c.3079_3080del (p.Val1027HisfsTer?) | ClinVar |
7 | g.117611763del | CA2573141590 | CFTR | c.3322del (p.Val1108SerfsTer13) c.*3036del (n.*3036del) c.3139del (p.Val1047SerfsTer13) c.*1622del (n.*1622del) c.*3146del (n.*3146del) c.2896del (p.Val966SerfsTer13) c.70del (p.Val24SerfsTer13) c.913del (p.Val305SerfsTer13) c.972del c.2104del (p.Val702SerfsTer13) c.3232del (p.Val1078SerfsTer13) c.147del c.3412del (p.Val1138SerfsTer13) c.3079del (p.Val1027SerfsTer13) | ClinVar dbSNP gnomAD v4 |
7 | g.117611763G>A | CA368992536 | CFTR | c.3322G>A (p.Val1108Ile) c.*3036G>A (n.*3036G>A) c.3139G>A (p.Val1047Ile) c.*1622G>A (n.*1622G>A) c.*3146G>A (n.*3146G>A) c.2896G>A (p.Val966Ile) c.70G>A (p.Val24Ile) c.913G>A (p.Val305Ile) c.972G>A c.2104G>A (p.Val702Ile) c.3232G>A (p.Val1078Ile) c.147G>A c.3412G>A (p.Val1138Ile) c.3079G>A (p.Val1027Ile) | ClinVar gnomAD v4 |
7 | g.117611763G>C | CA327147 | CFTR | c.3322G>C (p.Val1108Leu) c.*3036G>C (n.*3036G>C) c.3139G>C (p.Val1047Leu) c.*1622G>C (n.*1622G>C) c.*3146G>C (n.*3146G>C) c.2896G>C (p.Val966Leu) c.70G>C (p.Val24Leu) c.913G>C (p.Val305Leu) c.972G>C c.2104G>C (p.Val702Leu) c.3232G>C (p.Val1078Leu) c.147G>C c.3412G>C (p.Val1138Leu) c.3079G>C (p.Val1027Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611763G= | CA1737387577 | CFTR | c.3322G= (p.Val1108=) c.*3036G= (n.*3036G=) c.3139G= (p.Val1047=) c.*1622G= (n.*1622G=) c.*3146G= (n.*3146G=) c.2896G= (p.Val966=) c.70G= (p.Val24=) c.913G= (p.Val305=) c.972G= c.2104G= (p.Val702=) c.3232G= (p.Val1078=) c.147G= c.3412G= (p.Val1138=) c.3079G= (p.Val1027=) | |
7 | g.117611763G>T | CA368992538 | CFTR | c.3322G>T (p.Val1108Phe) c.*3036G>T (n.*3036G>T) c.3139G>T (p.Val1047Phe) c.*1622G>T (n.*1622G>T) c.*3146G>T (n.*3146G>T) c.2896G>T (p.Val966Phe) c.70G>T (p.Val24Phe) c.913G>T (p.Val305Phe) c.972G>T c.2104G>T (p.Val702Phe) c.3232G>T (p.Val1078Phe) c.147G>T c.3412G>T (p.Val1138Phe) c.3079G>T (p.Val1027Phe) |