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.117611588T>A | CA368991758 | CFTR | c.3147T>A (p.Ser1049Arg) c.*2861T>A (n.*2861T>A) c.2964T>A (p.Ser988Arg) c.*1447T>A (n.*1447T>A) c.*2971T>A (n.*2971T>A) c.2721T>A (p.Ser907Arg) c.738T>A (p.Ser246Arg) c.797T>A c.1929T>A (p.Ser643Arg) c.3057T>A (p.Ser1019Arg) c.3237T>A (p.Ser1079Arg) c.2904T>A (p.Ser968Arg) | |
7 | g.117611588T>C | CA457229973 | CFTR | c.3147T>C (p.Ser1049=) c.*2861T>C (n.*2861T>C) c.2964T>C (p.Ser988=) c.*1447T>C (n.*1447T>C) c.*2971T>C (n.*2971T>C) c.2721T>C (p.Ser907=) c.738T>C (p.Ser246=) c.797T>C c.1929T>C (p.Ser643=) c.3057T>C (p.Ser1019=) c.3237T>C (p.Ser1079=) c.2904T>C (p.Ser968=) | gnomAD v4 |
7 | g.117611588T>G | CA368991760 | CFTR | c.3147T>G (p.Ser1049Arg) c.*2861T>G (n.*2861T>G) c.2964T>G (p.Ser988Arg) c.*1447T>G (n.*1447T>G) c.*2971T>G (n.*2971T>G) c.2721T>G (p.Ser907Arg) c.738T>G (p.Ser246Arg) c.797T>G c.1929T>G (p.Ser643Arg) c.3057T>G (p.Ser1019Arg) c.3237T>G (p.Ser1079Arg) c.2904T>G (p.Ser968Arg) | dbSNP |
7 | g.117611588T= | CA1737386673 | CFTR | c.3147T= (p.Ser1049=) c.*2861T= (n.*2861T=) c.2964T= (p.Ser988=) c.*1447T= (n.*1447T=) c.*2971T= (n.*2971T=) c.2721T= (p.Ser907=) c.738T= (p.Ser246=) c.797T= c.1929T= (p.Ser643=) c.3057T= (p.Ser1019=) c.3237T= (p.Ser1079=) c.2904T= (p.Ser968=) | |
7 | g.117611589C>A | CA368991766 | CFTR | c.3148C>A (p.Pro1050Thr) c.*2862C>A (n.*2862C>A) c.2965C>A (p.Pro989Thr) c.*1448C>A (n.*1448C>A) c.*2972C>A (n.*2972C>A) c.2722C>A (p.Pro908Thr) c.739C>A (p.Pro247Thr) c.798C>A c.1930C>A (p.Pro644Thr) c.3058C>A (p.Pro1020Thr) c.3238C>A (p.Pro1080Thr) c.2905C>A (p.Pro969Thr) | ClinVar gnomAD v4 |
7 | g.117611589C= | CA1737386677 | CFTR | c.3148C= (p.Pro1050=) c.*2862C= (n.*2862C=) c.2965C= (p.Pro989=) c.*1448C= (n.*1448C=) c.*2972C= (n.*2972C=) c.2722C= (p.Pro908=) c.739C= (p.Pro247=) c.798C= c.1930C= (p.Pro644=) c.3058C= (p.Pro1020=) c.3238C= (p.Pro1080=) c.2905C= (p.Pro969=) | |
7 | g.117611589C>G | CA164966275 | CFTR | c.3148C>G (p.Pro1050Ala) c.*2862C>G (n.*2862C>G) c.2965C>G (p.Pro989Ala) c.*1448C>G (n.*1448C>G) c.*2972C>G (n.*2972C>G) c.2722C>G (p.Pro908Ala) c.739C>G (p.Pro247Ala) c.798C>G c.1930C>G (p.Pro644Ala) c.3058C>G (p.Pro1020Ala) c.3238C>G (p.Pro1080Ala) c.2905C>G (p.Pro969Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611589C>T | CA368991770 | CFTR | c.3148C>T (p.Pro1050Ser) c.*2862C>T (n.*2862C>T) c.2965C>T (p.Pro989Ser) c.*1448C>T (n.*1448C>T) c.*2972C>T (n.*2972C>T) c.2722C>T (p.Pro908Ser) c.739C>T (p.Pro247Ser) c.798C>T c.1930C>T (p.Pro644Ser) c.3058C>T (p.Pro1020Ser) c.3238C>T (p.Pro1080Ser) c.2905C>T (p.Pro969Ser) | |
7 | g.117611590C>A | CA368991772 | CFTR | c.3149C>A (p.Pro1050Gln) c.*2863C>A (n.*2863C>A) c.2966C>A (p.Pro989Gln) c.*1449C>A (n.*1449C>A) c.*2973C>A (n.*2973C>A) c.2723C>A (p.Pro908Gln) c.740C>A (p.Pro247Gln) c.799C>A c.1931C>A (p.Pro644Gln) c.3059C>A (p.Pro1020Gln) c.3239C>A (p.Pro1080Gln) c.2906C>A (p.Pro969Gln) | |
7 | g.117611590C>G | CA368991775 | CFTR | c.3149C>G (p.Pro1050Arg) c.*2863C>G (n.*2863C>G) c.2966C>G (p.Pro989Arg) c.*1449C>G (n.*1449C>G) c.*2973C>G (n.*2973C>G) c.2723C>G (p.Pro908Arg) c.740C>G (p.Pro247Arg) c.799C>G c.1931C>G (p.Pro644Arg) c.3059C>G (p.Pro1020Arg) c.3239C>G (p.Pro1080Arg) c.2906C>G (p.Pro969Arg) | |
7 | g.117611590C>T | CA368991778 | CFTR | c.3149C>T (p.Pro1050Leu) c.*2863C>T (n.*2863C>T) c.2966C>T (p.Pro989Leu) c.*1449C>T (n.*1449C>T) c.*2973C>T (n.*2973C>T) c.2723C>T (p.Pro908Leu) c.740C>T (p.Pro247Leu) c.799C>T c.1931C>T (p.Pro644Leu) c.3059C>T (p.Pro1020Leu) c.3239C>T (p.Pro1080Leu) c.2906C>T (p.Pro969Leu) | |
7 | g.117611591A>C | CA457229974 | CFTR | c.3150A>C (p.Pro1050=) c.*2864A>C (n.*2864A>C) c.2967A>C (p.Pro989=) c.*1450A>C (n.*1450A>C) c.*2974A>C (n.*2974A>C) c.2724A>C (p.Pro908=) c.741A>C (p.Pro247=) c.800A>C c.1932A>C (p.Pro644=) c.3060A>C (p.Pro1020=) c.3240A>C (p.Pro1080=) c.2907A>C (p.Pro969=) | |
7 | g.117611591A>G | CA457229975 | CFTR | c.3150A>G (p.Pro1050=) c.*2864A>G (n.*2864A>G) c.2967A>G (p.Pro989=) c.*1450A>G (n.*1450A>G) c.*2974A>G (n.*2974A>G) c.2724A>G (p.Pro908=) c.741A>G (p.Pro247=) c.800A>G c.1932A>G (p.Pro644=) c.3060A>G (p.Pro1020=) c.3240A>G (p.Pro1080=) c.2907A>G (p.Pro969=) | |
7 | g.117611591A>T | CA457229976 | CFTR | c.3150A>T (p.Pro1050=) c.*2864A>T (n.*2864A>T) c.2967A>T (p.Pro989=) c.*1450A>T (n.*1450A>T) c.*2974A>T (n.*2974A>T) c.2724A>T (p.Pro908=) c.741A>T (p.Pro247=) c.800A>T c.1932A>T (p.Pro644=) c.3060A>T (p.Pro1020=) c.3240A>T (p.Pro1080=) c.2907A>T (p.Pro969=) | |
7 | g.117611592A= | CA1737386681 | CFTR | c.3151A= (p.Ile1051=) c.*2865A= (n.*2865A=) c.2968A= (p.Ile990=) c.*1451A= (n.*1451A=) c.*2975A= (n.*2975A=) c.2725A= (p.Ile909=) c.742A= (p.Ile248=) c.801A= c.1933A= (p.Ile645=) c.3061A= (p.Ile1021=) c.3241A= (p.Ile1081=) c.2908A= (p.Ile970=) | |
7 | g.117611592A>C | CA368991781 | CFTR | c.3151A>C (p.Ile1051Leu) c.*2865A>C (n.*2865A>C) c.2968A>C (p.Ile990Leu) c.*1451A>C (n.*1451A>C) c.*2975A>C (n.*2975A>C) c.2725A>C (p.Ile909Leu) c.742A>C (p.Ile248Leu) c.801A>C c.1933A>C (p.Ile645Leu) c.3061A>C (p.Ile1021Leu) c.3241A>C (p.Ile1081Leu) c.2908A>C (p.Ile970Leu) | |
7 | g.117611592A>G | CA4451403 | CFTR | c.3151A>G (p.Ile1051Val) c.*2865A>G (n.*2865A>G) c.2968A>G (p.Ile990Val) c.*1451A>G (n.*1451A>G) c.*2975A>G (n.*2975A>G) c.2725A>G (p.Ile909Val) c.742A>G (p.Ile248Val) c.801A>G c.1933A>G (p.Ile645Val) c.3061A>G (p.Ile1021Val) c.3241A>G (p.Ile1081Val) c.2908A>G (p.Ile970Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611592A>T | CA4451404 | CFTR | c.3151A>T (p.Ile1051Phe) c.*2865A>T (n.*2865A>T) c.2968A>T (p.Ile990Phe) c.*1451A>T (n.*1451A>T) c.*2975A>T (n.*2975A>T) c.2725A>T (p.Ile909Phe) c.742A>T (p.Ile248Phe) c.801A>T c.1933A>T (p.Ile645Phe) c.3061A>T (p.Ile1021Phe) c.3241A>T (p.Ile1081Phe) c.2908A>T (p.Ile970Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117611593T>A | CA368991794 | CFTR | c.3152T>A (p.Ile1051Asn) c.*2866T>A (n.*2866T>A) c.2969T>A (p.Ile990Asn) c.*1452T>A (n.*1452T>A) c.*2976T>A (n.*2976T>A) c.2726T>A (p.Ile909Asn) c.743T>A (p.Ile248Asn) c.802T>A c.1934T>A (p.Ile645Asn) c.3062T>A (p.Ile1021Asn) c.3242T>A (p.Ile1081Asn) c.2909T>A (p.Ile970Asn) | |
7 | g.117611593T>C | CA368991793 | CFTR | c.3152T>C (p.Ile1051Thr) c.*2866T>C (n.*2866T>C) c.2969T>C (p.Ile990Thr) c.*1452T>C (n.*1452T>C) c.*2976T>C (n.*2976T>C) c.2726T>C (p.Ile909Thr) c.743T>C (p.Ile248Thr) c.802T>C c.1934T>C (p.Ile645Thr) c.3062T>C (p.Ile1021Thr) c.3242T>C (p.Ile1081Thr) c.2909T>C (p.Ile970Thr) | |
7 | g.117611593T>G | CA368991788 | CFTR | c.3152T>G (p.Ile1051Ser) c.*2866T>G (n.*2866T>G) c.2969T>G (p.Ile990Ser) c.*1452T>G (n.*1452T>G) c.*2976T>G (n.*2976T>G) c.2726T>G (p.Ile909Ser) c.743T>G (p.Ile248Ser) c.802T>G c.1934T>G (p.Ile645Ser) c.3062T>G (p.Ile1021Ser) c.3242T>G (p.Ile1081Ser) c.2909T>G (p.Ile970Ser) | |
7 | g.117611594T>A | CA457229977 | CFTR | c.3153T>A (p.Ile1051=) c.*2867T>A (n.*2867T>A) c.2970T>A (p.Ile990=) c.*1453T>A (n.*1453T>A) c.*2977T>A (n.*2977T>A) c.2727T>A (p.Ile909=) c.744T>A (p.Ile248=) c.803T>A c.1935T>A (p.Ile645=) c.3063T>A (p.Ile1021=) c.3243T>A (p.Ile1081=) c.2910T>A (p.Ile970=) | |
7 | g.117611594T>C | CA457229978 | CFTR | c.3153T>C (p.Ile1051=) c.*2867T>C (n.*2867T>C) c.2970T>C (p.Ile990=) c.*1453T>C (n.*1453T>C) c.*2977T>C (n.*2977T>C) c.2727T>C (p.Ile909=) c.744T>C (p.Ile248=) c.803T>C c.1935T>C (p.Ile645=) c.3063T>C (p.Ile1021=) c.3243T>C (p.Ile1081=) c.2910T>C (p.Ile970=) | |
7 | g.117611594T>G | CA368991800 | CFTR | c.3153T>G (p.Ile1051Met) c.*2867T>G (n.*2867T>G) c.2970T>G (p.Ile990Met) c.*1453T>G (n.*1453T>G) c.*2977T>G (n.*2977T>G) c.2727T>G (p.Ile909Met) c.744T>G (p.Ile248Met) c.803T>G c.1935T>G (p.Ile645Met) c.3063T>G (p.Ile1021Met) c.3243T>G (p.Ile1081Met) c.2910T>G (p.Ile970Met) | |
7 | g.117611595T>A | CA368991804 | CFTR | c.3154T>A (p.Phe1052Ile) c.*2868T>A (n.*2868T>A) c.2971T>A (p.Phe991Ile) c.*1454T>A (n.*1454T>A) c.*2978T>A (n.*2978T>A) c.2728T>A (p.Phe910Ile) c.745T>A (p.Phe249Ile) c.804T>A c.1936T>A (p.Phe646Ile) c.3064T>A (p.Phe1022Ile) c.3244T>A (p.Phe1082Ile) c.2911T>A (p.Phe971Ile) | |
7 | g.117611595T>C | CA368991806 | CFTR | c.3154T>C (p.Phe1052Leu) c.*2868T>C (n.*2868T>C) c.2971T>C (p.Phe991Leu) c.*1454T>C (n.*1454T>C) c.*2978T>C (n.*2978T>C) c.2728T>C (p.Phe910Leu) c.745T>C (p.Phe249Leu) c.804T>C c.1936T>C (p.Phe646Leu) c.3064T>C (p.Phe1022Leu) c.3244T>C (p.Phe1082Leu) c.2911T>C (p.Phe971Leu) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117611595T>G | CA327067 | CFTR | c.3154T>G (p.Phe1052Val) c.*2868T>G (n.*2868T>G) c.2971T>G (p.Phe991Val) c.*1454T>G (n.*1454T>G) c.*2978T>G (n.*2978T>G) c.2728T>G (p.Phe910Val) c.745T>G (p.Phe249Val) c.804T>G c.1936T>G (p.Phe646Val) c.3064T>G (p.Phe1022Val) c.3244T>G (p.Phe1082Val) c.2911T>G (p.Phe971Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611595T= | CA1737386693 | CFTR | c.3154T= (p.Phe1052=) c.*2868T= (n.*2868T=) c.2971T= (p.Phe991=) c.*1454T= (n.*1454T=) c.*2978T= (n.*2978T=) c.2728T= (p.Phe910=) c.745T= (p.Phe249=) c.804T= c.1936T= (p.Phe646=) c.3064T= (p.Phe1022=) c.3244T= (p.Phe1082=) c.2911T= (p.Phe971=) | |
7 | g.117611596T>A | CA368991814 | CFTR | c.3155T>A (p.Phe1052Tyr) c.*2869T>A (n.*2869T>A) c.2972T>A (p.Phe991Tyr) c.*1455T>A (n.*1455T>A) c.*2979T>A (n.*2979T>A) c.2729T>A (p.Phe910Tyr) c.746T>A (p.Phe249Tyr) c.805T>A c.1937T>A (p.Phe646Tyr) c.3065T>A (p.Phe1022Tyr) c.3245T>A (p.Phe1082Tyr) c.2912T>A (p.Phe971Tyr) | |
7 | g.117611596T>C | CA368991817 | CFTR | c.3155T>C (p.Phe1052Ser) c.*2869T>C (n.*2869T>C) c.2972T>C (p.Phe991Ser) c.*1455T>C (n.*1455T>C) c.*2979T>C (n.*2979T>C) c.2729T>C (p.Phe910Ser) c.746T>C (p.Phe249Ser) c.805T>C c.1937T>C (p.Phe646Ser) c.3065T>C (p.Phe1022Ser) c.3245T>C (p.Phe1082Ser) c.2912T>C (p.Phe971Ser) | |
7 | g.117611596T>G | CA368991820 | CFTR | c.3155T>G (p.Phe1052Cys) c.*2869T>G (n.*2869T>G) c.2972T>G (p.Phe991Cys) c.*1455T>G (n.*1455T>G) c.*2979T>G (n.*2979T>G) c.2729T>G (p.Phe910Cys) c.746T>G (p.Phe249Cys) c.805T>G c.1937T>G (p.Phe646Cys) c.3065T>G (p.Phe1022Cys) c.3245T>G (p.Phe1082Cys) c.2912T>G (p.Phe971Cys) | |
7 | g.117611597C>A | CA368991825 | CFTR | c.3156C>A (p.Phe1052Leu) c.*2870C>A (n.*2870C>A) c.2973C>A (p.Phe991Leu) c.*1456C>A (n.*1456C>A) c.*2980C>A (n.*2980C>A) c.2730C>A (p.Phe910Leu) c.747C>A (p.Phe249Leu) c.806C>A c.1938C>A (p.Phe646Leu) c.3066C>A (p.Phe1022Leu) c.3246C>A (p.Phe1082Leu) c.2913C>A (p.Phe971Leu) | |
7 | g.117611597C>G | CA368991827 | CFTR | c.3156C>G (p.Phe1052Leu) c.*2870C>G (n.*2870C>G) c.2973C>G (p.Phe991Leu) c.*1456C>G (n.*1456C>G) c.*2980C>G (n.*2980C>G) c.2730C>G (p.Phe910Leu) c.747C>G (p.Phe249Leu) c.806C>G c.1938C>G (p.Phe646Leu) c.3066C>G (p.Phe1022Leu) c.3246C>G (p.Phe1082Leu) c.2913C>G (p.Phe971Leu) | gnomAD v4 |
7 | g.117611597C>T | CA457229979 | CFTR | c.3156C>T (p.Phe1052=) c.*2870C>T (n.*2870C>T) c.2973C>T (p.Phe991=) c.*1456C>T (n.*1456C>T) c.*2980C>T (n.*2980C>T) c.2730C>T (p.Phe910=) c.747C>T (p.Phe249=) c.806C>T c.1938C>T (p.Phe646=) c.3066C>T (p.Phe1022=) c.3246C>T (p.Phe1082=) c.2913C>T (p.Phe971=) | ClinVar |
7 | g.117611598A= | CA1737386699 | CFTR | c.3157A= (p.Thr1053=) c.*2871A= (n.*2871A=) c.2974A= (p.Thr992=) c.*1457A= (n.*1457A=) c.*2981A= (n.*2981A=) c.2731A= (p.Thr911=) c.748A= (p.Thr250=) c.807A= c.1939A= (p.Thr647=) c.3067A= (p.Thr1023=) c.3247A= (p.Thr1083=) c.2914A= (p.Thr972=) | |
7 | g.117611598A>C | CA368991832 | CFTR | c.3157A>C (p.Thr1053Pro) c.*2871A>C (n.*2871A>C) c.2974A>C (p.Thr992Pro) c.*1457A>C (n.*1457A>C) c.*2981A>C (n.*2981A>C) c.2731A>C (p.Thr911Pro) c.748A>C (p.Thr250Pro) c.807A>C c.1939A>C (p.Thr647Pro) c.3067A>C (p.Thr1023Pro) c.3247A>C (p.Thr1083Pro) c.2914A>C (p.Thr972Pro) | |
7 | g.117611598A>G | CA368991835 | CFTR | c.3157A>G (p.Thr1053Ala) c.*2871A>G (n.*2871A>G) c.2974A>G (p.Thr992Ala) c.*1457A>G (n.*1457A>G) c.*2981A>G (n.*2981A>G) c.2731A>G (p.Thr911Ala) c.748A>G (p.Thr250Ala) c.807A>G c.1939A>G (p.Thr647Ala) c.3067A>G (p.Thr1023Ala) c.3247A>G (p.Thr1083Ala) c.2914A>G (p.Thr972Ala) | |
7 | g.117611598A>T | CA368991838 | CFTR | c.3157A>T (p.Thr1053Ser) c.*2871A>T (n.*2871A>T) c.2974A>T (p.Thr992Ser) c.*1457A>T (n.*1457A>T) c.*2981A>T (n.*2981A>T) c.2731A>T (p.Thr911Ser) c.748A>T (p.Thr250Ser) c.807A>T c.1939A>T (p.Thr647Ser) c.3067A>T (p.Thr1023Ser) c.3247A>T (p.Thr1083Ser) c.2914A>T (p.Thr972Ser) | ClinVar dbSNP |
7 | g.117611599C>A | CA368991849 | CFTR | c.3158C>A (p.Thr1053Asn) c.*2872C>A (n.*2872C>A) c.2975C>A (p.Thr992Asn) c.*1458C>A (n.*1458C>A) c.*2982C>A (n.*2982C>A) c.2732C>A (p.Thr911Asn) c.749C>A (p.Thr250Asn) c.808C>A c.1940C>A (p.Thr647Asn) c.3068C>A (p.Thr1023Asn) c.3248C>A (p.Thr1083Asn) c.2915C>A (p.Thr972Asn) | gnomAD v4 |
7 | g.117611599C= | CA1737386707 | CFTR | c.3158C= (p.Thr1053=) c.*2872C= (n.*2872C=) c.2975C= (p.Thr992=) c.*1458C= (n.*1458C=) c.*2982C= (n.*2982C=) c.2732C= (p.Thr911=) c.749C= (p.Thr250=) c.808C= c.1940C= (p.Thr647=) c.3068C= (p.Thr1023=) c.3248C= (p.Thr1083=) c.2915C= (p.Thr972=) | |
7 | g.117611599C>G | CA368991844 | CFTR | c.3158C>G (p.Thr1053Ser) c.*2872C>G (n.*2872C>G) c.2975C>G (p.Thr992Ser) c.*1458C>G (n.*1458C>G) c.*2982C>G (n.*2982C>G) c.2732C>G (p.Thr911Ser) c.749C>G (p.Thr250Ser) c.808C>G c.1940C>G (p.Thr647Ser) c.3068C>G (p.Thr1023Ser) c.3248C>G (p.Thr1083Ser) c.2915C>G (p.Thr972Ser) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117611599C>T | CA327068 | CFTR | c.3158C>T (p.Thr1053Ile) c.*2872C>T (n.*2872C>T) c.2975C>T (p.Thr992Ile) c.*1458C>T (n.*1458C>T) c.*2982C>T (n.*2982C>T) c.2732C>T (p.Thr911Ile) c.749C>T (p.Thr250Ile) c.808C>T c.1940C>T (p.Thr647Ile) c.3068C>T (p.Thr1023Ile) c.3248C>T (p.Thr1083Ile) c.2915C>T (p.Thr972Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611600T>A | CA457229980 | CFTR | c.3159T>A (p.Thr1053=) c.*2873T>A (n.*2873T>A) c.2976T>A (p.Thr992=) c.*1459T>A (n.*1459T>A) c.*2983T>A (n.*2983T>A) c.2733T>A (p.Thr911=) c.750T>A (p.Thr250=) c.809T>A c.1941T>A (p.Thr647=) c.3069T>A (p.Thr1023=) c.3249T>A (p.Thr1083=) c.2916T>A (p.Thr972=) | ClinVar dbSNP |
7 | g.117611600T>C | CA457229981 | CFTR | c.3159T>C (p.Thr1053=) c.*2873T>C (n.*2873T>C) c.2976T>C (p.Thr992=) c.*1459T>C (n.*1459T>C) c.*2983T>C (n.*2983T>C) c.2733T>C (p.Thr911=) c.750T>C (p.Thr250=) c.809T>C c.1941T>C (p.Thr647=) c.3069T>C (p.Thr1023=) c.3249T>C (p.Thr1083=) c.2916T>C (p.Thr972=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117611600T>G | CA457229982 | CFTR | c.3159T>G (p.Thr1053=) c.*2873T>G (n.*2873T>G) c.2976T>G (p.Thr992=) c.*1459T>G (n.*1459T>G) c.*2983T>G (n.*2983T>G) c.2733T>G (p.Thr911=) c.750T>G (p.Thr250=) c.809T>G c.1941T>G (p.Thr647=) c.3069T>G (p.Thr1023=) c.3249T>G (p.Thr1083=) c.2916T>G (p.Thr972=) | COSMIC |
7 | g.117611600T= | CA1737386713 | CFTR | c.3159T= (p.Thr1053=) c.*2873T= (n.*2873T=) c.2976T= (p.Thr992=) c.*1459T= (n.*1459T=) c.*2983T= (n.*2983T=) c.2733T= (p.Thr911=) c.750T= (p.Thr250=) c.809T= c.1941T= (p.Thr647=) c.3069T= (p.Thr1023=) c.3249T= (p.Thr1083=) c.2916T= (p.Thr972=) | |
7 | g.117611601C>A | CA368991852 | CFTR | c.3160C>A (p.His1054Asn) c.*2874C>A (n.*2874C>A) c.2977C>A (p.His993Asn) c.*1460C>A (n.*1460C>A) c.*2984C>A (n.*2984C>A) c.2734C>A (p.His912Asn) c.751C>A (p.His251Asn) c.810C>A c.1942C>A (p.His648Asn) c.3070C>A (p.His1024Asn) c.3250C>A (p.His1084Asn) c.2917C>A (p.His973Asn) | |
7 | g.117611601C= | CA1737386722 | CFTR | c.3160C= (p.His1054=) c.*2874C= (n.*2874C=) c.2977C= (p.His993=) c.*1460C= (n.*1460C=) c.*2984C= (n.*2984C=) c.2734C= (p.His912=) c.751C= (p.His251=) c.810C= c.1942C= (p.His648=) c.3070C= (p.His1024=) c.3250C= (p.His1084=) c.2917C= (p.His973=) | |
7 | g.117611601C>G | CA327070 | CFTR | c.3160C>G (p.His1054Asp) c.*2874C>G (n.*2874C>G) c.2977C>G (p.His993Asp) c.*1460C>G (n.*1460C>G) c.*2984C>G (n.*2984C>G) c.2734C>G (p.His912Asp) c.751C>G (p.His251Asp) c.810C>G c.1942C>G (p.His648Asp) c.3070C>G (p.His1024Asp) c.3250C>G (p.His1084Asp) c.2917C>G (p.His973Asp) | ClinVar dbSNP gnomAD v4 |
7 | g.117611601C>T | CA368991857 | CFTR | c.3160C>T (p.His1054Tyr) c.*2874C>T (n.*2874C>T) c.2977C>T (p.His993Tyr) c.*1460C>T (n.*1460C>T) c.*2984C>T (n.*2984C>T) c.2734C>T (p.His912Tyr) c.751C>T (p.His251Tyr) c.810C>T c.1942C>T (p.His648Tyr) c.3070C>T (p.His1024Tyr) c.3250C>T (p.His1084Tyr) c.2917C>T (p.His973Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611601_117611602delinsCA | CA1737386717 | CFTR | c.3160_3161delinsCA (p.His1054=) c.*2874_*2875delinsCA (n.*2874_*2875delinsCA) c.2977_2978delinsCA (p.His993=) c.*1460_*1461delinsCA (n.*1460_*1461delinsCA) c.*2984_*2985delinsCA (n.*2984_*2985delinsCA) c.2734_2735delinsCA (p.His912=) c.751_752delinsCA (p.His251=) c.810_811delinsCA c.1942_1943delinsCA (p.His648=) c.3070_3071delinsCA (p.His1024=) c.3250_3251delinsCA (p.His1084=) c.2917_2918delinsCA (p.His973=) | |
7 | g.117611602del | CA325607 | CFTR | c.3161del (p.His1054LeufsTer6) c.*2875del (n.*2875del) c.2978del (p.His993LeufsTer6) c.*1461del (n.*1461del) c.*2985del (n.*2985del) c.2735del (p.His912LeufsTer6) c.752del (p.His251LeufsTer6) c.811del c.1943del (p.His648LeufsTer6) c.3071del (p.His1024LeufsTer6) c.3251del (p.His1084LeufsTer6) c.2918del (p.His973LeufsTer6) | ClinVar dbSNP |
7 | g.117611602A= | CA1737386729 | CFTR | c.3161A= (p.His1054=) c.*2875A= (n.*2875A=) c.2978A= (p.His993=) c.*1461A= (n.*1461A=) c.*2985A= (n.*2985A=) c.2735A= (p.His912=) c.752A= (p.His251=) c.811A= c.1943A= (p.His648=) c.3071A= (p.His1024=) c.3251A= (p.His1084=) c.2918A= (p.His973=) | |
7 | g.117611602A>C | CA368991862 | CFTR | c.3161A>C (p.His1054Pro) c.*2875A>C (n.*2875A>C) c.2978A>C (p.His993Pro) c.*1461A>C (n.*1461A>C) c.*2985A>C (n.*2985A>C) c.2735A>C (p.His912Pro) c.752A>C (p.His251Pro) c.811A>C c.1943A>C (p.His648Pro) c.3071A>C (p.His1024Pro) c.3251A>C (p.His1084Pro) c.2918A>C (p.His973Pro) | gnomAD v4 |
7 | g.117611602A>G | CA368991865 | CFTR | c.3161A>G (p.His1054Arg) c.*2875A>G (n.*2875A>G) c.2978A>G (p.His993Arg) c.*1461A>G (n.*1461A>G) c.*2985A>G (n.*2985A>G) c.2735A>G (p.His912Arg) c.752A>G (p.His251Arg) c.811A>G c.1943A>G (p.His648Arg) c.3071A>G (p.His1024Arg) c.3251A>G (p.His1084Arg) c.2918A>G (p.His973Arg) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117611602A>T | CA368991868 | CFTR | c.3161A>T (p.His1054Leu) c.*2875A>T (n.*2875A>T) c.2978A>T (p.His993Leu) c.*1461A>T (n.*1461A>T) c.*2985A>T (n.*2985A>T) c.2735A>T (p.His912Leu) c.752A>T (p.His251Leu) c.811A>T c.1943A>T (p.His648Leu) c.3071A>T (p.His1024Leu) c.3251A>T (p.His1084Leu) c.2918A>T (p.His973Leu) | ClinVar dbSNP gnomAD v4 |
7 | g.117611603T>A | CA4451405 | CFTR | c.3162T>A (p.His1054Gln) c.*2876T>A (n.*2876T>A) c.2979T>A (p.His993Gln) c.*1462T>A (n.*1462T>A) c.*2986T>A (n.*2986T>A) c.2736T>A (p.His912Gln) c.753T>A (p.His251Gln) c.812T>A c.1944T>A (p.His648Gln) c.3072T>A (p.His1024Gln) c.3252T>A (p.His1084Gln) c.2919T>A (p.His973Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611603T>C | CA457229983 | CFTR | c.3162T>C (p.His1054=) c.*2876T>C (n.*2876T>C) c.2979T>C (p.His993=) c.*1462T>C (n.*1462T>C) c.*2986T>C (n.*2986T>C) c.2736T>C (p.His912=) c.753T>C (p.His251=) c.812T>C c.1944T>C (p.His648=) c.3072T>C (p.His1024=) c.3252T>C (p.His1084=) c.2919T>C (p.His973=) | ClinVar dbSNP |
7 | g.117611603T>G | CA368991875 | CFTR | c.3162T>G (p.His1054Gln) c.*2876T>G (n.*2876T>G) c.2979T>G (p.His993Gln) c.*1462T>G (n.*1462T>G) c.*2986T>G (n.*2986T>G) c.2736T>G (p.His912Gln) c.753T>G (p.His251Gln) c.812T>G c.1944T>G (p.His648Gln) c.3072T>G (p.His1024Gln) c.3252T>G (p.His1084Gln) c.2919T>G (p.His973Gln) | |
7 | g.117611603T= | CA1737386734 | CFTR | c.3162T= (p.His1054=) c.*2876T= (n.*2876T=) c.2979T= (p.His993=) c.*1462T= (n.*1462T=) c.*2986T= (n.*2986T=) c.2736T= (p.His912=) c.753T= (p.His251=) c.812T= c.1944T= (p.His648=) c.3072T= (p.His1024=) c.3252T= (p.His1084=) c.2919T= (p.His973=) | |
7 | g.117611604C>A | CA368991880 | CFTR | c.3163C>A (p.Leu1055Ile) c.*2877C>A (n.*2877C>A) c.2980C>A (p.Leu994Ile) c.*1463C>A (n.*1463C>A) c.*2987C>A (n.*2987C>A) c.2737C>A (p.Leu913Ile) c.754C>A (p.Leu252Ile) c.813C>A c.1945C>A (p.Leu649Ile) c.3073C>A (p.Leu1025Ile) c.3253C>A (p.Leu1085Ile) c.2920C>A (p.Leu974Ile) | |
7 | g.117611604C>G | CA368991883 | CFTR | c.3163C>G (p.Leu1055Val) c.*2877C>G (n.*2877C>G) c.2980C>G (p.Leu994Val) c.*1463C>G (n.*1463C>G) c.*2987C>G (n.*2987C>G) c.2737C>G (p.Leu913Val) c.754C>G (p.Leu252Val) c.813C>G c.1945C>G (p.Leu649Val) c.3073C>G (p.Leu1025Val) c.3253C>G (p.Leu1085Val) c.2920C>G (p.Leu974Val) | |
7 | g.117611604C>T | CA368991886 | CFTR | c.3163C>T (p.Leu1055Phe) c.*2877C>T (n.*2877C>T) c.2980C>T (p.Leu994Phe) c.*1463C>T (n.*1463C>T) c.*2987C>T (n.*2987C>T) c.2737C>T (p.Leu913Phe) c.754C>T (p.Leu252Phe) c.813C>T c.1945C>T (p.Leu649Phe) c.3073C>T (p.Leu1025Phe) c.3253C>T (p.Leu1085Phe) c.2920C>T (p.Leu974Phe) | |
7 | g.117611605T>A | CA368991894 | CFTR | c.3164T>A (p.Leu1055His) c.*2878T>A (n.*2878T>A) c.2981T>A (p.Leu994His) c.*1464T>A (n.*1464T>A) c.*2988T>A (n.*2988T>A) c.2738T>A (p.Leu913His) c.755T>A (p.Leu252His) c.814T>A c.1946T>A (p.Leu649His) c.3074T>A (p.Leu1025His) c.3254T>A (p.Leu1085His) c.2921T>A (p.Leu974His) | |
7 | g.117611605T>C | CA368991892 | CFTR | c.3164T>C (p.Leu1055Pro) c.*2878T>C (n.*2878T>C) c.2981T>C (p.Leu994Pro) c.*1464T>C (n.*1464T>C) c.*2988T>C (n.*2988T>C) c.2738T>C (p.Leu913Pro) c.755T>C (p.Leu252Pro) c.814T>C c.1946T>C (p.Leu649Pro) c.3074T>C (p.Leu1025Pro) c.3254T>C (p.Leu1085Pro) c.2921T>C (p.Leu974Pro) | dbSNP |
7 | g.117611605T>G | CA368991890 | CFTR | c.3164T>G (p.Leu1055Arg) c.*2878T>G (n.*2878T>G) c.2981T>G (p.Leu994Arg) c.*1464T>G (n.*1464T>G) c.*2988T>G (n.*2988T>G) c.2738T>G (p.Leu913Arg) c.755T>G (p.Leu252Arg) c.814T>G c.1946T>G (p.Leu649Arg) c.3074T>G (p.Leu1025Arg) c.3254T>G (p.Leu1085Arg) c.2921T>G (p.Leu974Arg) | |
7 | g.117611606T>A | CA457229984 | CFTR | c.3165T>A (p.Leu1055=) c.*2879T>A (n.*2879T>A) c.2982T>A (p.Leu994=) c.*1465T>A (n.*1465T>A) c.*2989T>A (n.*2989T>A) c.2739T>A (p.Leu913=) c.756T>A (p.Leu252=) c.815T>A c.1947T>A (p.Leu649=) c.3075T>A (p.Leu1025=) c.3255T>A (p.Leu1085=) c.2922T>A (p.Leu974=) | |
7 | g.117611606T>C | CA457229985 | CFTR | c.3165T>C (p.Leu1055=) c.*2879T>C (n.*2879T>C) c.2982T>C (p.Leu994=) c.*1465T>C (n.*1465T>C) c.*2989T>C (n.*2989T>C) c.2739T>C (p.Leu913=) c.756T>C (p.Leu252=) c.815T>C c.1947T>C (p.Leu649=) c.3075T>C (p.Leu1025=) c.3255T>C (p.Leu1085=) c.2922T>C (p.Leu974=) | dbSNP |
7 | g.117611606T>G | CA457229986 | CFTR | c.3165T>G (p.Leu1055=) c.*2879T>G (n.*2879T>G) c.2982T>G (p.Leu994=) c.*1465T>G (n.*1465T>G) c.*2989T>G (n.*2989T>G) c.2739T>G (p.Leu913=) c.756T>G (p.Leu252=) c.815T>G c.1947T>G (p.Leu649=) c.3075T>G (p.Leu1025=) c.3255T>G (p.Leu1085=) c.2922T>G (p.Leu974=) | |
7 | g.117611606T= | CA1737386737 | CFTR | c.3165T= (p.Leu1055=) c.*2879T= (n.*2879T=) c.2982T= (p.Leu994=) c.*1465T= (n.*1465T=) c.*2989T= (n.*2989T=) c.2739T= (p.Leu913=) c.756T= (p.Leu252=) c.815T= c.1947T= (p.Leu649=) c.3075T= (p.Leu1025=) c.3255T= (p.Leu1085=) c.2922T= (p.Leu974=) | |
7 | g.117611607G>A | CA368991896 | CFTR | c.3166G>A (p.Val1056Ile) c.*2880G>A (n.*2880G>A) c.2983G>A (p.Val995Ile) c.*1466G>A (n.*1466G>A) c.*2990G>A (n.*2990G>A) c.2740G>A (p.Val914Ile) c.757G>A (p.Val253Ile) c.816G>A c.1948G>A (p.Val650Ile) c.3076G>A (p.Val1026Ile) c.3256G>A (p.Val1086Ile) c.2923G>A (p.Val975Ile) | dbSNP |
7 | g.117611607G>C | CA368991898 | CFTR | c.3166G>C (p.Val1056Leu) c.*2880G>C (n.*2880G>C) c.2983G>C (p.Val995Leu) c.*1466G>C (n.*1466G>C) c.*2990G>C (n.*2990G>C) c.2740G>C (p.Val914Leu) c.757G>C (p.Val253Leu) c.816G>C c.1948G>C (p.Val650Leu) c.3076G>C (p.Val1026Leu) c.3256G>C (p.Val1086Leu) c.2923G>C (p.Val975Leu) | gnomAD v4 |
7 | g.117611607G= | CA1737386739 | CFTR | c.3166G= (p.Val1056=) c.*2880G= (n.*2880G=) c.2983G= (p.Val995=) c.*1466G= (n.*1466G=) c.*2990G= (n.*2990G=) c.2740G= (p.Val914=) c.757G= (p.Val253=) c.816G= c.1948G= (p.Val650=) c.3076G= (p.Val1026=) c.3256G= (p.Val1086=) c.2923G= (p.Val975=) | |
7 | g.117611607G>T | CA368991900 | CFTR | c.3166G>T (p.Val1056Phe) c.*2880G>T (n.*2880G>T) c.2983G>T (p.Val995Phe) c.*1466G>T (n.*1466G>T) c.*2990G>T (n.*2990G>T) c.2740G>T (p.Val914Phe) c.757G>T (p.Val253Phe) c.816G>T c.1948G>T (p.Val650Phe) c.3076G>T (p.Val1026Phe) c.3256G>T (p.Val1086Phe) c.2923G>T (p.Val975Phe) | dbSNP |
7 | g.117611608T>A | CA368991902 | CFTR | c.3167T>A (p.Val1056Asp) c.*2881T>A (n.*2881T>A) c.2984T>A (p.Val995Asp) c.*1467T>A (n.*1467T>A) c.*2991T>A (n.*2991T>A) c.2741T>A (p.Val914Asp) c.758T>A (p.Val253Asp) c.817T>A c.1949T>A (p.Val650Asp) c.3077T>A (p.Val1026Asp) c.3257T>A (p.Val1086Asp) c.2924T>A (p.Val975Asp) | |
7 | g.117611608T>C | CA368991905 | CFTR | c.3167T>C (p.Val1056Ala) c.*2881T>C (n.*2881T>C) c.2984T>C (p.Val995Ala) c.*1467T>C (n.*1467T>C) c.*2991T>C (n.*2991T>C) c.2741T>C (p.Val914Ala) c.758T>C (p.Val253Ala) c.817T>C c.1949T>C (p.Val650Ala) c.3077T>C (p.Val1026Ala) c.3257T>C (p.Val1086Ala) c.2924T>C (p.Val975Ala) | ClinVar dbSNP |
7 | g.117611608T>G | CA368991907 | CFTR | c.3167T>G (p.Val1056Gly) c.*2881T>G (n.*2881T>G) c.2984T>G (p.Val995Gly) c.*1467T>G (n.*1467T>G) c.*2991T>G (n.*2991T>G) c.2741T>G (p.Val914Gly) c.758T>G (p.Val253Gly) c.817T>G c.1949T>G (p.Val650Gly) c.3077T>G (p.Val1026Gly) c.3257T>G (p.Val1086Gly) c.2924T>G (p.Val975Gly) | |
7 | g.117611609del | CA2580076363 | CFTR | c.3168del (p.Thr1057GlnfsTer3) c.*2882del (n.*2882del) c.2985del (p.Thr996GlnfsTer3) c.*1468del (n.*1468del) c.*2992del (n.*2992del) c.2742del (p.Thr915GlnfsTer3) c.759del (p.Thr254GlnfsTer3) c.818del c.1950del (p.Thr651GlnfsTer3) c.3078del (p.Thr1027GlnfsTer3) c.3258del (p.Thr1087GlnfsTer3) c.2925del (p.Thr976GlnfsTer3) | ClinVar |
7 | g.117611609T>A | CA457229987 | CFTR | c.3168T>A (p.Val1056=) c.*2882T>A (n.*2882T>A) c.2985T>A (p.Val995=) c.*1468T>A (n.*1468T>A) c.*2992T>A (n.*2992T>A) c.2742T>A (p.Val914=) c.759T>A (p.Val253=) c.818T>A c.1950T>A (p.Val650=) c.3078T>A (p.Val1026=) c.3258T>A (p.Val1086=) c.2925T>A (p.Val975=) | |
7 | g.117611609T>C | CA457229988 | CFTR | c.3168T>C (p.Val1056=) c.*2882T>C (n.*2882T>C) c.2985T>C (p.Val995=) c.*1468T>C (n.*1468T>C) c.*2992T>C (n.*2992T>C) c.2742T>C (p.Val914=) c.759T>C (p.Val253=) c.818T>C c.1950T>C (p.Val650=) c.3078T>C (p.Val1026=) c.3258T>C (p.Val1086=) c.2925T>C (p.Val975=) | |
7 | g.117611609T>G | CA457229989 | CFTR | c.3168T>G (p.Val1056=) c.*2882T>G (n.*2882T>G) c.2985T>G (p.Val995=) c.*1468T>G (n.*1468T>G) c.*2992T>G (n.*2992T>G) c.2742T>G (p.Val914=) c.759T>G (p.Val253=) c.818T>G c.1950T>G (p.Val650=) c.3078T>G (p.Val1026=) c.3258T>G (p.Val1086=) c.2925T>G (p.Val975=) | |
7 | g.117611610A= | CA1737386747 | CFTR | c.3169A= (p.Thr1057=) c.*2883A= (n.*2883A=) c.2986A= (p.Thr996=) c.*1469A= (n.*1469A=) c.*2993A= (n.*2993A=) c.2743A= (p.Thr915=) c.760A= (p.Thr254=) c.819A= c.1951A= (p.Thr651=) c.3079A= (p.Thr1027=) c.3259A= (p.Thr1087=) c.2926A= (p.Thr976=) | |
7 | g.117611610A>C | CA368991908 | CFTR | c.3169A>C (p.Thr1057Pro) c.*2883A>C (n.*2883A>C) c.2986A>C (p.Thr996Pro) c.*1469A>C (n.*1469A>C) c.*2993A>C (n.*2993A>C) c.2743A>C (p.Thr915Pro) c.760A>C (p.Thr254Pro) c.819A>C c.1951A>C (p.Thr651Pro) c.3079A>C (p.Thr1027Pro) c.3259A>C (p.Thr1087Pro) c.2926A>C (p.Thr976Pro) | |
7 | g.117611610A>G | CA327072 | CFTR | c.3169A>G (p.Thr1057Ala) c.*2883A>G (n.*2883A>G) c.2986A>G (p.Thr996Ala) c.*1469A>G (n.*1469A>G) c.*2993A>G (n.*2993A>G) c.2743A>G (p.Thr915Ala) c.760A>G (p.Thr254Ala) c.819A>G c.1951A>G (p.Thr651Ala) c.3079A>G (p.Thr1027Ala) c.3259A>G (p.Thr1087Ala) c.2926A>G (p.Thr976Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611610A>T | CA368991912 | CFTR | c.3169A>T (p.Thr1057Ser) c.*2883A>T (n.*2883A>T) c.2986A>T (p.Thr996Ser) c.*1469A>T (n.*1469A>T) c.*2993A>T (n.*2993A>T) c.2743A>T (p.Thr915Ser) c.760A>T (p.Thr254Ser) c.819A>T c.1951A>T (p.Thr651Ser) c.3079A>T (p.Thr1027Ser) c.3259A>T (p.Thr1087Ser) c.2926A>T (p.Thr976Ser) | |
7 | g.117611611C>A | CA368991916 | CFTR | c.3170C>A (p.Thr1057Lys) c.*2884C>A (n.*2884C>A) c.2987C>A (p.Thr996Lys) c.*1470C>A (n.*1470C>A) c.*2994C>A (n.*2994C>A) c.2744C>A (p.Thr915Lys) c.761C>A (p.Thr254Lys) c.820C>A c.1952C>A (p.Thr651Lys) c.3080C>A (p.Thr1027Lys) c.3260C>A (p.Thr1087Lys) c.2927C>A (p.Thr976Lys) | |
7 | g.117611611C>G | CA368991917 | CFTR | c.3170C>G (p.Thr1057Arg) c.*2884C>G (n.*2884C>G) c.2987C>G (p.Thr996Arg) c.*1470C>G (n.*1470C>G) c.*2994C>G (n.*2994C>G) c.2744C>G (p.Thr915Arg) c.761C>G (p.Thr254Arg) c.820C>G c.1952C>G (p.Thr651Arg) c.3080C>G (p.Thr1027Arg) c.3260C>G (p.Thr1087Arg) c.2927C>G (p.Thr976Arg) | gnomAD v4 |
7 | g.117611611C>T | CA368991919 | CFTR | c.3170C>T (p.Thr1057Ile) c.*2884C>T (n.*2884C>T) c.2987C>T (p.Thr996Ile) c.*1470C>T (n.*1470C>T) c.*2994C>T (n.*2994C>T) c.2744C>T (p.Thr915Ile) c.761C>T (p.Thr254Ile) c.820C>T c.1952C>T (p.Thr651Ile) c.3080C>T (p.Thr1027Ile) c.3260C>T (p.Thr1087Ile) c.2927C>T (p.Thr976Ile) | gnomAD v4 |
7 | g.117611612A>C | CA457229990 | CFTR | c.3171A>C (p.Thr1057=) c.*2885A>C (n.*2885A>C) c.2988A>C (p.Thr996=) c.*1471A>C (n.*1471A>C) c.*2995A>C (n.*2995A>C) c.2745A>C (p.Thr915=) c.762A>C (p.Thr254=) c.821A>C c.1953A>C (p.Thr651=) c.3081A>C (p.Thr1027=) c.3261A>C (p.Thr1087=) c.2928A>C (p.Thr976=) | |
7 | g.117611612A>G | CA457229991 | CFTR | c.3171A>G (p.Thr1057=) c.*2885A>G (n.*2885A>G) c.2988A>G (p.Thr996=) c.*1471A>G (n.*1471A>G) c.*2995A>G (n.*2995A>G) c.2745A>G (p.Thr915=) c.762A>G (p.Thr254=) c.821A>G c.1953A>G (p.Thr651=) c.3081A>G (p.Thr1027=) c.3261A>G (p.Thr1087=) c.2928A>G (p.Thr976=) | |
7 | g.117611612A>T | CA457229992 | CFTR | c.3171A>T (p.Thr1057=) c.*2885A>T (n.*2885A>T) c.2988A>T (p.Thr996=) c.*1471A>T (n.*1471A>T) c.*2995A>T (n.*2995A>T) c.2745A>T (p.Thr915=) c.762A>T (p.Thr254=) c.821A>T c.1953A>T (p.Thr651=) c.3081A>T (p.Thr1027=) c.3261A>T (p.Thr1087=) c.2928A>T (p.Thr976=) | |
7 | g.117611613A>C | CA368991922 | CFTR | c.3172A>C (p.Ser1058Arg) c.*2886A>C (n.*2886A>C) c.2989A>C (p.Ser997Arg) c.*1472A>C (n.*1472A>C) c.*2996A>C (n.*2996A>C) c.2746A>C (p.Ser916Arg) c.763A>C (p.Ser255Arg) c.822A>C c.1954A>C (p.Ser652Arg) c.3082A>C (p.Ser1028Arg) c.3262A>C (p.Ser1088Arg) c.2929A>C (p.Ser977Arg) | |
7 | g.117611613A>G | CA368991927 | CFTR | c.3172A>G (p.Ser1058Gly) c.*2886A>G (n.*2886A>G) c.2989A>G (p.Ser997Gly) c.*1472A>G (n.*1472A>G) c.*2996A>G (n.*2996A>G) c.2746A>G (p.Ser916Gly) c.763A>G (p.Ser255Gly) c.822A>G c.1954A>G (p.Ser652Gly) c.3082A>G (p.Ser1028Gly) c.3262A>G (p.Ser1088Gly) c.2929A>G (p.Ser977Gly) | |
7 | g.117611613A>T | CA368991925 | CFTR | c.3172A>T (p.Ser1058Cys) c.*2886A>T (n.*2886A>T) c.2989A>T (p.Ser997Cys) c.*1472A>T (n.*1472A>T) c.*2996A>T (n.*2996A>T) c.2746A>T (p.Ser916Cys) c.763A>T (p.Ser255Cys) c.822A>T c.1954A>T (p.Ser652Cys) c.3082A>T (p.Ser1028Cys) c.3262A>T (p.Ser1088Cys) c.2929A>T (p.Ser977Cys) | |
7 | g.117611614G>A | CA368991929 | CFTR | c.3173G>A (p.Ser1058Asn) c.*2887G>A (n.*2887G>A) c.2990G>A (p.Ser997Asn) c.*1473G>A (n.*1473G>A) c.*2997G>A (n.*2997G>A) c.2747G>A (p.Ser916Asn) c.764G>A (p.Ser255Asn) c.823G>A c.1955G>A (p.Ser652Asn) c.3083G>A (p.Ser1028Asn) c.3263G>A (p.Ser1088Asn) c.2930G>A (p.Ser977Asn) | |
7 | g.117611614G>C | CA368991932 | CFTR | c.3173G>C (p.Ser1058Thr) c.*2887G>C (n.*2887G>C) c.2990G>C (p.Ser997Thr) c.*1473G>C (n.*1473G>C) c.*2997G>C (n.*2997G>C) c.2747G>C (p.Ser916Thr) c.764G>C (p.Ser255Thr) c.823G>C c.1955G>C (p.Ser652Thr) c.3083G>C (p.Ser1028Thr) c.3263G>C (p.Ser1088Thr) c.2930G>C (p.Ser977Thr) | |
7 | g.117611614G>T | CA368991931 | CFTR | c.3173G>T (p.Ser1058Ile) c.*2887G>T (n.*2887G>T) c.2990G>T (p.Ser997Ile) c.*1473G>T (n.*1473G>T) c.*2997G>T (n.*2997G>T) c.2747G>T (p.Ser916Ile) c.764G>T (p.Ser255Ile) c.823G>T c.1955G>T (p.Ser652Ile) c.3083G>T (p.Ser1028Ile) c.3263G>T (p.Ser1088Ile) c.2930G>T (p.Ser977Ile) | |
7 | g.117611615C>A | CA368991934 | CFTR | c.3174C>A (p.Ser1058Arg) c.*2888C>A (n.*2888C>A) c.2991C>A (p.Ser997Arg) c.*1474C>A (n.*1474C>A) c.*2998C>A (n.*2998C>A) c.2748C>A (p.Ser916Arg) c.765C>A (p.Ser255Arg) c.824C>A c.1956C>A (p.Ser652Arg) c.3084C>A (p.Ser1028Arg) c.3264C>A (p.Ser1088Arg) c.2931C>A (p.Ser977Arg) | gnomAD v4 |
7 | g.117611615C= | CA1737386765 | CFTR | c.3174C= (p.Ser1058=) c.*2888C= (n.*2888C=) c.2991C= (p.Ser997=) c.*1474C= (n.*1474C=) c.*2998C= (n.*2998C=) c.2748C= (p.Ser916=) c.765C= (p.Ser255=) c.824C= c.1956C= (p.Ser652=) c.3084C= (p.Ser1028=) c.3264C= (p.Ser1088=) c.2931C= (p.Ser977=) | |
7 | g.117611615C>G | CA368991937 | CFTR | c.3174C>G (p.Ser1058Arg) c.*2888C>G (n.*2888C>G) c.2991C>G (p.Ser997Arg) c.*1474C>G (n.*1474C>G) c.*2998C>G (n.*2998C>G) c.2748C>G (p.Ser916Arg) c.765C>G (p.Ser255Arg) c.824C>G c.1956C>G (p.Ser652Arg) c.3084C>G (p.Ser1028Arg) c.3264C>G (p.Ser1088Arg) c.2931C>G (p.Ser977Arg) | |
7 | g.117611615C>T | CA457229993 | CFTR | c.3174C>T (p.Ser1058=) c.*2888C>T (n.*2888C>T) c.2991C>T (p.Ser997=) c.*1474C>T (n.*1474C>T) c.*2998C>T (n.*2998C>T) c.2748C>T (p.Ser916=) c.765C>T (p.Ser255=) c.824C>T c.1956C>T (p.Ser652=) c.3084C>T (p.Ser1028=) c.3264C>T (p.Ser1088=) c.2931C>T (p.Ser977=) | ClinVar dbSNP |
7 | g.117611616T>A | CA368991939 | CFTR | c.3175T>A (p.Leu1059Ile) c.*2889T>A (n.*2889T>A) c.2992T>A (p.Leu998Ile) c.*1475T>A (n.*1475T>A) c.*2999T>A (n.*2999T>A) c.2749T>A (p.Leu917Ile) c.766T>A (p.Leu256Ile) c.825T>A c.1957T>A (p.Leu653Ile) c.3085T>A (p.Leu1029Ile) c.3265T>A (p.Leu1089Ile) c.2932T>A (p.Leu978Ile) | dbSNP |
7 | g.117611616T>C | CA4451406 | CFTR | c.3175T>C (p.Leu1059=) c.*2889T>C (n.*2889T>C) c.2992T>C (p.Leu998=) c.*1475T>C (n.*1475T>C) c.*2999T>C (n.*2999T>C) c.2749T>C (p.Leu917=) c.766T>C (p.Leu256=) c.825T>C c.1957T>C (p.Leu653=) c.3085T>C (p.Leu1029=) c.3265T>C (p.Leu1089=) c.2932T>C (p.Leu978=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117611616T>G | CA368991941 | CFTR | c.3175T>G (p.Leu1059Val) c.*2889T>G (n.*2889T>G) c.2992T>G (p.Leu998Val) c.*1475T>G (n.*1475T>G) c.*2999T>G (n.*2999T>G) c.2749T>G (p.Leu917Val) c.766T>G (p.Leu256Val) c.825T>G c.1957T>G (p.Leu653Val) c.3085T>G (p.Leu1029Val) c.3265T>G (p.Leu1089Val) c.2932T>G (p.Leu978Val) | |
7 | g.117611616T= | CA1737386770 | CFTR | c.3175T= (p.Leu1059=) c.*2889T= (n.*2889T=) c.2992T= (p.Leu998=) c.*1475T= (n.*1475T=) c.*2999T= (n.*2999T=) c.2749T= (p.Leu917=) c.766T= (p.Leu256=) c.825T= c.1957T= (p.Leu653=) c.3085T= (p.Leu1029=) c.3265T= (p.Leu1089=) c.2932T= (p.Leu978=) | |
7 | g.117611617T>A | CA368991945 | CFTR | c.3176T>A (p.Leu1059Ter) c.*2890T>A (n.*2890T>A) c.2993T>A (p.Leu998Ter) c.*1476T>A (n.*1476T>A) c.*3000T>A (n.*3000T>A) c.2750T>A (p.Leu917Ter) c.767T>A (p.Leu256Ter) c.826T>A c.1958T>A (p.Leu653Ter) c.3086T>A (p.Leu1029Ter) c.1T>A c.3266T>A (p.Leu1089Ter) c.2933T>A (p.Leu978Ter) | |
7 | g.117611617T>C | CA368991946 | CFTR | c.3176T>C (p.Leu1059Ser) c.*2890T>C (n.*2890T>C) c.2993T>C (p.Leu998Ser) c.*1476T>C (n.*1476T>C) c.*3000T>C (n.*3000T>C) c.2750T>C (p.Leu917Ser) c.767T>C (p.Leu256Ser) c.826T>C c.1958T>C (p.Leu653Ser) c.3086T>C (p.Leu1029Ser) c.1T>C c.3266T>C (p.Leu1089Ser) c.2933T>C (p.Leu978Ser) | |
7 | g.117611617T>G | CA327074 | CFTR | c.3176T>G (p.Leu1059Ter) c.*2890T>G (n.*2890T>G) c.2993T>G (p.Leu998Ter) c.*1476T>G (n.*1476T>G) c.*3000T>G (n.*3000T>G) c.2750T>G (p.Leu917Ter) c.767T>G (p.Leu256Ter) c.826T>G c.1958T>G (p.Leu653Ter) c.3086T>G (p.Leu1029Ter) c.1T>G c.3266T>G (p.Leu1089Ter) c.2933T>G (p.Leu978Ter) | ClinVar dbSNP |
7 | g.117611617T= | CA1737386774 | CFTR | c.3176T= (p.Leu1059=) c.*2890T= (n.*2890T=) c.2993T= (p.Leu998=) c.*1476T= (n.*1476T=) c.*3000T= (n.*3000T=) c.2750T= (p.Leu917=) c.767T= (p.Leu256=) c.826T= c.1958T= (p.Leu653=) c.3086T= (p.Leu1029=) c.1T= c.3266T= (p.Leu1089=) c.2933T= (p.Leu978=) | |
7 | g.117611618A= | CA1737386789 | CFTR | c.3177A= (p.Leu1059=) c.*2891A= (n.*2891A=) c.2994A= (p.Leu998=) c.*1477A= (n.*1477A=) c.*3001A= (n.*3001A=) c.2751A= (p.Leu917=) c.768A= (p.Leu256=) c.827A= c.1959A= (p.Leu653=) c.3087A= (p.Leu1029=) c.2A= c.3267A= (p.Leu1089=) c.2934A= (p.Leu978=) | |
7 | g.117611618A>C | CA368991949 | CFTR | c.3177A>C (p.Leu1059Phe) c.*2891A>C (n.*2891A>C) c.2994A>C (p.Leu998Phe) c.*1477A>C (n.*1477A>C) c.*3001A>C (n.*3001A>C) c.2751A>C (p.Leu917Phe) c.768A>C (p.Leu256Phe) c.827A>C c.1959A>C (p.Leu653Phe) c.3087A>C (p.Leu1029Phe) c.2A>C c.3267A>C (p.Leu1089Phe) c.2934A>C (p.Leu978Phe) | |
7 | g.117611618A>G | CA327076 | CFTR | c.3177A>G (p.Leu1059=) c.*2891A>G (n.*2891A>G) c.2994A>G (p.Leu998=) c.*1477A>G (n.*1477A>G) c.*3001A>G (n.*3001A>G) c.2751A>G (p.Leu917=) c.768A>G (p.Leu256=) c.827A>G c.1959A>G (p.Leu653=) c.3087A>G (p.Leu1029=) c.2A>G c.3267A>G (p.Leu1089=) c.2934A>G (p.Leu978=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611618A>T | CA368991952 | CFTR | c.3177A>T (p.Leu1059Phe) c.*2891A>T (n.*2891A>T) c.2994A>T (p.Leu998Phe) c.*1477A>T (n.*1477A>T) c.*3001A>T (n.*3001A>T) c.2751A>T (p.Leu917Phe) c.768A>T (p.Leu256Phe) c.827A>T c.1959A>T (p.Leu653Phe) c.3087A>T (p.Leu1029Phe) c.2A>T c.3267A>T (p.Leu1089Phe) c.2934A>T (p.Leu978Phe) | |
7 | g.117611621del | CA2580076368 | CFTR | c.3180del (p.Gly1061AspfsTer22) c.*2894del (n.*2894del) c.2997del (p.Gly1000AspfsTer22) c.*1480del (n.*1480del) c.*3004del (n.*3004del) c.2754del (p.Gly919AspfsTer22) c.771del (p.Gly258AspfsTer22) c.830del c.1962del (p.Gly655AspfsTer22) c.3090del (p.Gly1031AspfsTer22) c.5del c.3270del (p.Gly1091AspfsTer22) c.2937del (p.Gly980AspfsTer22) | ClinVar |
7 | g.117611619A= | CA1737386800 | CFTR | c.3178A= (p.Lys1060=) c.*2892A= (n.*2892A=) c.2995A= (p.Lys999=) c.*1478A= (n.*1478A=) c.*3002A= (n.*3002A=) c.2752A= (p.Lys918=) c.769A= (p.Lys257=) c.828A= c.1960A= (p.Lys654=) c.3088A= (p.Lys1030=) c.3A= c.3268A= (p.Lys1090=) c.2935A= (p.Lys979=) | |
7 | g.117611619A>C | CA368991954 | CFTR | c.3178A>C (p.Lys1060Gln) c.*2892A>C (n.*2892A>C) c.2995A>C (p.Lys999Gln) c.*1478A>C (n.*1478A>C) c.*3002A>C (n.*3002A>C) c.2752A>C (p.Lys918Gln) c.769A>C (p.Lys257Gln) c.828A>C c.1960A>C (p.Lys654Gln) c.3088A>C (p.Lys1030Gln) c.3A>C c.3268A>C (p.Lys1090Gln) c.2935A>C (p.Lys979Gln) | |
7 | g.117611619A>G | CA368991956 | CFTR | c.3178A>G (p.Lys1060Glu) c.*2892A>G (n.*2892A>G) c.2995A>G (p.Lys999Glu) c.*1478A>G (n.*1478A>G) c.*3002A>G (n.*3002A>G) c.2752A>G (p.Lys918Glu) c.769A>G (p.Lys257Glu) c.828A>G c.1960A>G (p.Lys654Glu) c.3088A>G (p.Lys1030Glu) c.3A>G c.3268A>G (p.Lys1090Glu) c.2935A>G (p.Lys979Glu) | ClinVar dbSNP |
7 | g.117611619A>T | CA368991958 | CFTR | c.3178A>T (p.Lys1060Ter) c.*2892A>T (n.*2892A>T) c.2995A>T (p.Lys999Ter) c.*1478A>T (n.*1478A>T) c.*3002A>T (n.*3002A>T) c.2752A>T (p.Lys918Ter) c.769A>T (p.Lys257Ter) c.828A>T c.1960A>T (p.Lys654Ter) c.3088A>T (p.Lys1030Ter) c.3A>T c.3268A>T (p.Lys1090Ter) c.2935A>T (p.Lys979Ter) | |
7 | g.117611620A= | CA1737386805 | CFTR | c.3179A= (p.Lys1060=) c.*2893A= (n.*2893A=) c.2996A= (p.Lys999=) c.*1479A= (n.*1479A=) c.*3003A= (n.*3003A=) c.2753A= (p.Lys918=) c.770A= (p.Lys257=) c.829A= c.1961A= (p.Lys654=) c.3089A= (p.Lys1030=) c.4A= c.3269A= (p.Lys1090=) c.2936A= (p.Lys979=) | |
7 | g.117611620A>C | CA327078 | CFTR | c.3179A>C (p.Lys1060Thr) c.*2893A>C (n.*2893A>C) c.2996A>C (p.Lys999Thr) c.*1479A>C (n.*1479A>C) c.*3003A>C (n.*3003A>C) c.2753A>C (p.Lys918Thr) c.770A>C (p.Lys257Thr) c.829A>C c.1961A>C (p.Lys654Thr) c.3089A>C (p.Lys1030Thr) c.4A>C c.3269A>C (p.Lys1090Thr) c.2936A>C (p.Lys979Thr) | ClinVar dbSNP |
7 | g.117611620A>G | CA368991962 | CFTR | c.3179A>G (p.Lys1060Arg) c.*2893A>G (n.*2893A>G) c.2996A>G (p.Lys999Arg) c.*1479A>G (n.*1479A>G) c.*3003A>G (n.*3003A>G) c.2753A>G (p.Lys918Arg) c.770A>G (p.Lys257Arg) c.829A>G c.1961A>G (p.Lys654Arg) c.3089A>G (p.Lys1030Arg) c.4A>G c.3269A>G (p.Lys1090Arg) c.2936A>G (p.Lys979Arg) | |
7 | g.117611620A>T | CA368991964 | CFTR | c.3179A>T (p.Lys1060Ile) c.*2893A>T (n.*2893A>T) c.2996A>T (p.Lys999Ile) c.*1479A>T (n.*1479A>T) c.*3003A>T (n.*3003A>T) c.2753A>T (p.Lys918Ile) c.770A>T (p.Lys257Ile) c.829A>T c.1961A>T (p.Lys654Ile) c.3089A>T (p.Lys1030Ile) c.4A>T c.3269A>T (p.Lys1090Ile) c.2936A>T (p.Lys979Ile) | |
7 | g.117611621A= | CA1737386813 | CFTR | c.3180A= (p.Lys1060=) c.*2894A= (n.*2894A=) c.2997A= (p.Lys999=) c.*1480A= (n.*1480A=) c.*3004A= (n.*3004A=) c.2754A= (p.Lys918=) c.771A= (p.Lys257=) c.830A= c.1962A= (p.Lys654=) c.3090A= (p.Lys1030=) c.5A= c.3270A= (p.Lys1090=) c.2937A= (p.Lys979=) | |
7 | g.117611621A>C | CA368991966 | CFTR | c.3180A>C (p.Lys1060Asn) c.*2894A>C (n.*2894A>C) c.2997A>C (p.Lys999Asn) c.*1480A>C (n.*1480A>C) c.*3004A>C (n.*3004A>C) c.2754A>C (p.Lys918Asn) c.771A>C (p.Lys257Asn) c.830A>C c.1962A>C (p.Lys654Asn) c.3090A>C (p.Lys1030Asn) c.5A>C c.3270A>C (p.Lys1090Asn) c.2937A>C (p.Lys979Asn) | dbSNP |
7 | g.117611621A>G | CA10576717 | CFTR | c.3180A>G (p.Lys1060=) c.*2894A>G (n.*2894A>G) c.2997A>G (p.Lys999=) c.*1480A>G (n.*1480A>G) c.*3004A>G (n.*3004A>G) c.2754A>G (p.Lys918=) c.771A>G (p.Lys257=) c.830A>G c.1962A>G (p.Lys654=) c.3090A>G (p.Lys1030=) c.5A>G c.3270A>G (p.Lys1090=) c.2937A>G (p.Lys979=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611621A>T | CA368991968 | CFTR | c.3180A>T (p.Lys1060Asn) c.*2894A>T (n.*2894A>T) c.2997A>T (p.Lys999Asn) c.*1480A>T (n.*1480A>T) c.*3004A>T (n.*3004A>T) c.2754A>T (p.Lys918Asn) c.771A>T (p.Lys257Asn) c.830A>T c.1962A>T (p.Lys654Asn) c.3090A>T (p.Lys1030Asn) c.5A>T c.3270A>T (p.Lys1090Asn) c.2937A>T (p.Lys979Asn) | |
7 | g.117611622G>A | CA368991973 | CFTR | c.3181G>A (p.Gly1061Arg) c.*2895G>A (n.*2895G>A) c.2998G>A (p.Gly1000Arg) c.*1481G>A (n.*1481G>A) c.*3005G>A (n.*3005G>A) c.2755G>A (p.Gly919Arg) c.772G>A (p.Gly258Arg) c.831G>A c.1963G>A (p.Gly655Arg) c.3091G>A (p.Gly1031Arg) c.6G>A c.3271G>A (p.Gly1091Arg) c.2938G>A (p.Gly980Arg) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117611622G>C | CA221023 | CFTR | c.3181G>C (p.Gly1061Arg) c.*2895G>C (n.*2895G>C) c.2998G>C (p.Gly1000Arg) c.*1481G>C (n.*1481G>C) c.*3005G>C (n.*3005G>C) c.2755G>C (p.Gly919Arg) c.772G>C (p.Gly258Arg) c.831G>C c.1963G>C (p.Gly655Arg) c.3091G>C (p.Gly1031Arg) c.6G>C c.3271G>C (p.Gly1091Arg) c.2938G>C (p.Gly980Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117611622G= | CA1737386826 | CFTR | c.3181G= (p.Gly1061=) c.*2895G= (n.*2895G=) c.2998G= (p.Gly1000=) c.*1481G= (n.*1481G=) c.*3005G= (n.*3005G=) c.2755G= (p.Gly919=) c.772G= (p.Gly258=) c.831G= c.1963G= (p.Gly655=) c.3091G= (p.Gly1031=) c.6G= c.3271G= (p.Gly1091=) c.2938G= (p.Gly980=) | |
7 | g.117611622G>T | CA368991977 | CFTR | c.3181G>T (p.Gly1061Ter) c.*2895G>T (n.*2895G>T) c.2998G>T (p.Gly1000Ter) c.*1481G>T (n.*1481G>T) c.*3005G>T (n.*3005G>T) c.2755G>T (p.Gly919Ter) c.772G>T (p.Gly258Ter) c.831G>T c.1963G>T (p.Gly655Ter) c.3091G>T (p.Gly1031Ter) c.6G>T c.3271G>T (p.Gly1091Ter) c.2938G>T (p.Gly980Ter) | |
7 | g.117611626_117611632del | CA2573141588 | CFTR | c.3185_3191del (p.Leu1062HisfsTer19) c.*2899_*2905del (n.*2899_*2905del) c.3002_3008del (p.Leu1001HisfsTer19) c.*1485_*1491del (n.*1485_*1491del) c.*3009_*3015del (n.*3009_*3015del) c.2759_2765del (p.Leu920HisfsTer19) c.776_782del (p.Leu259HisfsTer19) c.835_841del c.1967_1973del (p.Leu656HisfsTer19) c.3095_3101del (p.Leu1032HisfsTer19) c.10_16del c.3275_3281del (p.Leu1092HisfsTer19) c.2942_2948del (p.Leu981HisfsTer19) | ClinVar dbSNP |
7 | g.117611623G>A | CA368991980 | CFTR | c.3182G>A (p.Gly1061Glu) c.*2896G>A (n.*2896G>A) c.2999G>A (p.Gly1000Glu) c.*1482G>A (n.*1482G>A) c.*3006G>A (n.*3006G>A) c.2756G>A (p.Gly919Glu) c.773G>A (p.Gly258Glu) c.832G>A c.1964G>A (p.Gly655Glu) c.3092G>A (p.Gly1031Glu) c.7G>A c.3272G>A (p.Gly1091Glu) c.2939G>A (p.Gly980Glu) | COSMIC |
7 | g.117611623G>C | CA368991983 | CFTR | c.3182G>C (p.Gly1061Ala) c.*2896G>C (n.*2896G>C) c.2999G>C (p.Gly1000Ala) c.*1482G>C (n.*1482G>C) c.*3006G>C (n.*3006G>C) c.2756G>C (p.Gly919Ala) c.773G>C (p.Gly258Ala) c.832G>C c.1964G>C (p.Gly655Ala) c.3092G>C (p.Gly1031Ala) c.7G>C c.3272G>C (p.Gly1091Ala) c.2939G>C (p.Gly980Ala) | |
7 | g.117611623G= | CA1737386834 | CFTR | c.3182G= (p.Gly1061=) c.*2896G= (n.*2896G=) c.2999G= (p.Gly1000=) c.*1482G= (n.*1482G=) c.*3006G= (n.*3006G=) c.2756G= (p.Gly919=) c.773G= (p.Gly258=) c.832G= c.1964G= (p.Gly655=) c.3092G= (p.Gly1031=) c.7G= c.3272G= (p.Gly1091=) c.2939G= (p.Gly980=) | |
7 | g.117611623G>T | CA368991985 | CFTR | c.3182G>T (p.Gly1061Val) c.*2896G>T (n.*2896G>T) c.2999G>T (p.Gly1000Val) c.*1482G>T (n.*1482G>T) c.*3006G>T (n.*3006G>T) c.2756G>T (p.Gly919Val) c.773G>T (p.Gly258Val) c.832G>T c.1964G>T (p.Gly655Val) c.3092G>T (p.Gly1031Val) c.7G>T c.3272G>T (p.Gly1091Val) c.2939G>T (p.Gly980Val) | dbSNP |
7 | g.117611624A= | CA1737386841 | CFTR | c.3183A= (p.Gly1061=) c.*2897A= (n.*2897A=) c.3000A= (p.Gly1000=) c.*1483A= (n.*1483A=) c.*3007A= (n.*3007A=) c.2757A= (p.Gly919=) c.774A= (p.Gly258=) c.833A= c.1965A= (p.Gly655=) c.3093A= (p.Gly1031=) c.8A= c.3273A= (p.Gly1091=) c.2940A= (p.Gly980=) | |
7 | g.117611624A>C | CA457229994 | CFTR | c.3183A>C (p.Gly1061=) c.*2897A>C (n.*2897A>C) c.3000A>C (p.Gly1000=) c.*1483A>C (n.*1483A>C) c.*3007A>C (n.*3007A>C) c.2757A>C (p.Gly919=) c.774A>C (p.Gly258=) c.833A>C c.1965A>C (p.Gly655=) c.3093A>C (p.Gly1031=) c.8A>C c.3273A>C (p.Gly1091=) c.2940A>C (p.Gly980=) | |
7 | g.117611624A>G | CA457229995 | CFTR | c.3183A>G (p.Gly1061=) c.*2897A>G (n.*2897A>G) c.3000A>G (p.Gly1000=) c.*1483A>G (n.*1483A>G) c.*3007A>G (n.*3007A>G) c.2757A>G (p.Gly919=) c.774A>G (p.Gly258=) c.833A>G c.1965A>G (p.Gly655=) c.3093A>G (p.Gly1031=) c.8A>G c.3273A>G (p.Gly1091=) c.2940A>G (p.Gly980=) | ClinVar dbSNP |
7 | g.117611624A>T | CA457229996 | CFTR | c.3183A>T (p.Gly1061=) c.*2897A>T (n.*2897A>T) c.3000A>T (p.Gly1000=) c.*1483A>T (n.*1483A>T) c.*3007A>T (n.*3007A>T) c.2757A>T (p.Gly919=) c.774A>T (p.Gly258=) c.833A>T c.1965A>T (p.Gly655=) c.3093A>T (p.Gly1031=) c.8A>T c.3273A>T (p.Gly1091=) c.2940A>T (p.Gly980=) | |
7 | g.117611625C>A | CA368991987 | CFTR | c.3184C>A (p.Leu1062Ile) c.*2898C>A (n.*2898C>A) c.3001C>A (p.Leu1001Ile) c.*1484C>A (n.*1484C>A) c.*3008C>A (n.*3008C>A) c.2758C>A (p.Leu920Ile) c.775C>A (p.Leu259Ile) c.834C>A c.1966C>A (p.Leu656Ile) c.3094C>A (p.Leu1032Ile) c.9C>A c.3274C>A (p.Leu1092Ile) c.2941C>A (p.Leu981Ile) | |
7 | g.117611625C>G | CA368991989 | CFTR | c.3184C>G (p.Leu1062Val) c.*2898C>G (n.*2898C>G) c.3001C>G (p.Leu1001Val) c.*1484C>G (n.*1484C>G) c.*3008C>G (n.*3008C>G) c.2758C>G (p.Leu920Val) c.775C>G (p.Leu259Val) c.834C>G c.1966C>G (p.Leu656Val) c.3094C>G (p.Leu1032Val) c.9C>G c.3274C>G (p.Leu1092Val) c.2941C>G (p.Leu981Val) | |
7 | g.117611625C>T | CA457229997 | CFTR | c.3184C>T (p.Leu1062=) c.*2898C>T (n.*2898C>T) c.3001C>T (p.Leu1001=) c.*1484C>T (n.*1484C>T) c.*3008C>T (n.*3008C>T) c.2758C>T (p.Leu920=) c.775C>T (p.Leu259=) c.834C>T c.1966C>T (p.Leu656=) c.3094C>T (p.Leu1032=) c.9C>T c.3274C>T (p.Leu1092=) c.2941C>T (p.Leu981=) | ClinVar |
7 | g.117611625_117611629dup | CA325557 | CFTR | c.3184_3188dup (p.Trp1063CysfsTer22) c.*2898_*2902dup (n.*2898_*2902dup) c.3001_3005dup (p.Trp1002CysfsTer22) c.*1484_*1488dup (n.*1484_*1488dup) c.*3008_*3012dup (n.*3008_*3012dup) c.2758_2762dup (p.Trp921CysfsTer22) c.775_779dup (p.Trp260CysfsTer22) c.834_838dup c.1966_1970dup (p.Trp657CysfsTer22) c.3094_3098dup (p.Trp1033CysfsTer22) c.9_13dup c.3274_3278dup (p.Trp1093CysfsTer22) c.2941_2945dup (p.Trp982CysfsTer22) | ClinVar dbSNP |
7 | g.117611626T>A | CA368991995 | CFTR | c.3185T>A (p.Leu1062Gln) c.*2899T>A (n.*2899T>A) c.3002T>A (p.Leu1001Gln) c.*1485T>A (n.*1485T>A) c.*3009T>A (n.*3009T>A) c.2759T>A (p.Leu920Gln) c.776T>A (p.Leu259Gln) c.835T>A c.1967T>A (p.Leu656Gln) c.3095T>A (p.Leu1032Gln) c.10T>A c.3275T>A (p.Leu1092Gln) c.2942T>A (p.Leu981Gln) | |
7 | g.117611626T>C | CA368991997 | CFTR | c.3185T>C (p.Leu1062Pro) c.*2899T>C (n.*2899T>C) c.3002T>C (p.Leu1001Pro) c.*1485T>C (n.*1485T>C) c.*3009T>C (n.*3009T>C) c.2759T>C (p.Leu920Pro) c.776T>C (p.Leu259Pro) c.835T>C c.1967T>C (p.Leu656Pro) c.3095T>C (p.Leu1032Pro) c.10T>C c.3275T>C (p.Leu1092Pro) c.2942T>C (p.Leu981Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.117611626T>G | CA368991993 | CFTR | c.3185T>G (p.Leu1062Arg) c.*2899T>G (n.*2899T>G) c.3002T>G (p.Leu1001Arg) c.*1485T>G (n.*1485T>G) c.*3009T>G (n.*3009T>G) c.2759T>G (p.Leu920Arg) c.776T>G (p.Leu259Arg) c.835T>G c.1967T>G (p.Leu656Arg) c.3095T>G (p.Leu1032Arg) c.10T>G c.3275T>G (p.Leu1092Arg) c.2942T>G (p.Leu981Arg) | |
7 | g.117611627A= | CA1737386855 | CFTR | c.3186A= (p.Leu1062=) c.*2900A= (n.*2900A=) c.3003A= (p.Leu1001=) c.*1486A= (n.*1486A=) c.*3010A= (n.*3010A=) c.2760A= (p.Leu920=) c.777A= (p.Leu259=) c.836A= c.1968A= (p.Leu656=) c.3096A= (p.Leu1032=) c.11A= c.3276A= (p.Leu1092=) c.2943A= (p.Leu981=) | |
7 | g.117611627A>C | CA457229998 | CFTR | c.3186A>C (p.Leu1062=) c.*2900A>C (n.*2900A>C) c.3003A>C (p.Leu1001=) c.*1486A>C (n.*1486A>C) c.*3010A>C (n.*3010A>C) c.2760A>C (p.Leu920=) c.777A>C (p.Leu259=) c.836A>C c.1968A>C (p.Leu656=) c.3096A>C (p.Leu1032=) c.11A>C c.3276A>C (p.Leu1092=) c.2943A>C (p.Leu981=) | |
7 | g.117611627A>G | CA457229999 | CFTR | c.3186A>G (p.Leu1062=) c.*2900A>G (n.*2900A>G) c.3003A>G (p.Leu1001=) c.*1486A>G (n.*1486A>G) c.*3010A>G (n.*3010A>G) c.2760A>G (p.Leu920=) c.777A>G (p.Leu259=) c.836A>G c.1968A>G (p.Leu656=) c.3096A>G (p.Leu1032=) c.11A>G c.3276A>G (p.Leu1092=) c.2943A>G (p.Leu981=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117611627A>T | CA457230000 | CFTR | c.3186A>T (p.Leu1062=) c.*2900A>T (n.*2900A>T) c.3003A>T (p.Leu1001=) c.*1486A>T (n.*1486A>T) c.*3010A>T (n.*3010A>T) c.2760A>T (p.Leu920=) c.777A>T (p.Leu259=) c.836A>T c.1968A>T (p.Leu656=) c.3096A>T (p.Leu1032=) c.11A>T c.3276A>T (p.Leu1092=) c.2943A>T (p.Leu981=) | ClinVar |
7 | g.117611628T>A | CA368991999 | CFTR | c.3187T>A (p.Trp1063Arg) c.*2901T>A (n.*2901T>A) c.3004T>A (p.Trp1002Arg) c.*1487T>A (n.*1487T>A) c.*3011T>A (n.*3011T>A) c.2761T>A (p.Trp921Arg) c.778T>A (p.Trp260Arg) c.837T>A c.1969T>A (p.Trp657Arg) c.3097T>A (p.Trp1033Arg) c.12T>A c.3277T>A (p.Trp1093Arg) c.2944T>A (p.Trp982Arg) | |
7 | g.117611628T>C | CA368992001 | CFTR | c.3187T>C (p.Trp1063Arg) c.*2901T>C (n.*2901T>C) c.3004T>C (p.Trp1002Arg) c.*1487T>C (n.*1487T>C) c.*3011T>C (n.*3011T>C) c.2761T>C (p.Trp921Arg) c.778T>C (p.Trp260Arg) c.837T>C c.1969T>C (p.Trp657Arg) c.3097T>C (p.Trp1033Arg) c.12T>C c.3277T>C (p.Trp1093Arg) c.2944T>C (p.Trp982Arg) | gnomAD v4 |
7 | g.117611628T>G | CA368992004 | CFTR | c.3187T>G (p.Trp1063Gly) c.*2901T>G (n.*2901T>G) c.3004T>G (p.Trp1002Gly) c.*1487T>G (n.*1487T>G) c.*3011T>G (n.*3011T>G) c.2761T>G (p.Trp921Gly) c.778T>G (p.Trp260Gly) c.837T>G c.1969T>G (p.Trp657Gly) c.3097T>G (p.Trp1033Gly) c.12T>G c.3277T>G (p.Trp1093Gly) c.2944T>G (p.Trp982Gly) | |
7 | g.117611629G>A | CA368992007 | CFTR | c.3188G>A (p.Trp1063Ter) c.*2902G>A (n.*2902G>A) c.3005G>A (p.Trp1002Ter) c.*1488G>A (n.*1488G>A) c.*3012G>A (n.*3012G>A) c.2762G>A (p.Trp921Ter) c.779G>A (p.Trp260Ter) c.838G>A c.1970G>A (p.Trp657Ter) c.3098G>A (p.Trp1033Ter) c.13G>A c.3278G>A (p.Trp1093Ter) c.2945G>A (p.Trp982Ter) | ClinVar dbSNP |
7 | g.117611629G>C | CA368992009 | CFTR | c.3188G>C (p.Trp1063Ser) c.*2902G>C (n.*2902G>C) c.3005G>C (p.Trp1002Ser) c.*1488G>C (n.*1488G>C) c.*3012G>C (n.*3012G>C) c.2762G>C (p.Trp921Ser) c.779G>C (p.Trp260Ser) c.838G>C c.1970G>C (p.Trp657Ser) c.3098G>C (p.Trp1033Ser) c.13G>C c.3278G>C (p.Trp1093Ser) c.2945G>C (p.Trp982Ser) | |
7 | g.117611629G= | CA1737386867 | CFTR | c.3188G= (p.Trp1063=) c.*2902G= (n.*2902G=) c.3005G= (p.Trp1002=) c.*1488G= (n.*1488G=) c.*3012G= (n.*3012G=) c.2762G= (p.Trp921=) c.779G= (p.Trp260=) c.838G= c.1970G= (p.Trp657=) c.3098G= (p.Trp1033=) c.13G= c.3278G= (p.Trp1093=) c.2945G= (p.Trp982=) | |
7 | g.117611629G>T | CA368992011 | CFTR | c.3188G>T (p.Trp1063Leu) c.*2902G>T (n.*2902G>T) c.3005G>T (p.Trp1002Leu) c.*1488G>T (n.*1488G>T) c.*3012G>T (n.*3012G>T) c.2762G>T (p.Trp921Leu) c.779G>T (p.Trp260Leu) c.838G>T c.1970G>T (p.Trp657Leu) c.3098G>T (p.Trp1033Leu) c.13G>T c.3278G>T (p.Trp1093Leu) c.2945G>T (p.Trp982Leu) | |
7 | g.117611630del | CA2695208433 | CFTR | c.3189del (p.Trp1063Ter) c.*2903del (n.*2903del) c.3006del (p.Trp1002Ter) c.*1489del (n.*1489del) c.*3013del (n.*3013del) c.2763del (p.Trp921Ter) c.780del (p.Trp260Ter) c.839del c.1971del (p.Trp657Ter) c.3099del (p.Trp1033Ter) c.14del c.3279del (p.Trp1093Ter) c.2946del (p.Trp982Ter) | |
7 | g.117611630G>A | CA327080 | CFTR | c.3189G>A (p.Trp1063Ter) c.*2903G>A (n.*2903G>A) c.3006G>A (p.Trp1002Ter) c.*1489G>A (n.*1489G>A) c.*3013G>A (n.*3013G>A) c.2763G>A (p.Trp921Ter) c.780G>A (p.Trp260Ter) c.839G>A c.1971G>A (p.Trp657Ter) c.3099G>A (p.Trp1033Ter) c.14G>A c.3279G>A (p.Trp1093Ter) c.2946G>A (p.Trp982Ter) | ClinVar dbSNP |
7 | g.117611630G>C | CA368992012 | CFTR | c.3189G>C (p.Trp1063Cys) c.*2903G>C (n.*2903G>C) c.3006G>C (p.Trp1002Cys) c.*1489G>C (n.*1489G>C) c.*3013G>C (n.*3013G>C) c.2763G>C (p.Trp921Cys) c.780G>C (p.Trp260Cys) c.839G>C c.1971G>C (p.Trp657Cys) c.3099G>C (p.Trp1033Cys) c.14G>C c.3279G>C (p.Trp1093Cys) c.2946G>C (p.Trp982Cys) | |
7 | g.117611630G= | CA1737386877 | CFTR | c.3189G= (p.Trp1063=) c.*2903G= (n.*2903G=) c.3006G= (p.Trp1002=) c.*1489G= (n.*1489G=) c.*3013G= (n.*3013G=) c.2763G= (p.Trp921=) c.780G= (p.Trp260=) c.839G= c.1971G= (p.Trp657=) c.3099G= (p.Trp1033=) c.14G= c.3279G= (p.Trp1093=) c.2946G= (p.Trp982=) | |
7 | g.117611630G>T | CA368992015 | CFTR | c.3189G>T (p.Trp1063Cys) c.*2903G>T (n.*2903G>T) c.3006G>T (p.Trp1002Cys) c.*1489G>T (n.*1489G>T) c.*3013G>T (n.*3013G>T) c.2763G>T (p.Trp921Cys) c.780G>T (p.Trp260Cys) c.839G>T c.1971G>T (p.Trp657Cys) c.3099G>T (p.Trp1033Cys) c.14G>T c.3279G>T (p.Trp1093Cys) c.2946G>T (p.Trp982Cys) | gnomAD v4 |
7 | g.117611631A= | CA1737386881 | CFTR | c.3190A= (p.Thr1064=) c.*2904A= (n.*2904A=) c.3007A= (p.Thr1003=) c.*1490A= (n.*1490A=) c.*3014A= (n.*3014A=) c.2764A= (p.Thr922=) c.781A= (p.Thr261=) c.840A= c.1972A= (p.Thr658=) c.3100A= (p.Thr1034=) c.15A= c.3280A= (p.Thr1094=) c.2947A= (p.Thr983=) | |
7 | g.117611631A>C | CA368992017 | CFTR | c.3190A>C (p.Thr1064Pro) c.*2904A>C (n.*2904A>C) c.3007A>C (p.Thr1003Pro) c.*1490A>C (n.*1490A>C) c.*3014A>C (n.*3014A>C) c.2764A>C (p.Thr922Pro) c.781A>C (p.Thr261Pro) c.840A>C c.1972A>C (p.Thr658Pro) c.3100A>C (p.Thr1034Pro) c.15A>C c.3280A>C (p.Thr1094Pro) c.2947A>C (p.Thr983Pro) | |
7 | g.117611631A>G | CA368992019 | CFTR | c.3190A>G (p.Thr1064Ala) c.*2904A>G (n.*2904A>G) c.3007A>G (p.Thr1003Ala) c.*1490A>G (n.*1490A>G) c.*3014A>G (n.*3014A>G) c.2764A>G (p.Thr922Ala) c.781A>G (p.Thr261Ala) c.840A>G c.1972A>G (p.Thr658Ala) c.3100A>G (p.Thr1034Ala) c.15A>G c.3280A>G (p.Thr1094Ala) c.2947A>G (p.Thr983Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117611631A>T | CA368992021 | CFTR | c.3190A>T (p.Thr1064Ser) c.*2904A>T (n.*2904A>T) c.3007A>T (p.Thr1003Ser) c.*1490A>T (n.*1490A>T) c.*3014A>T (n.*3014A>T) c.2764A>T (p.Thr922Ser) c.781A>T (p.Thr261Ser) c.840A>T c.1972A>T (p.Thr658Ser) c.3100A>T (p.Thr1034Ser) c.15A>T c.3280A>T (p.Thr1094Ser) c.2947A>T (p.Thr983Ser) | |
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.117611632C>A | CA368992027 | CFTR | c.3191C>A (p.Thr1064Lys) c.*2905C>A (n.*2905C>A) c.3008C>A (p.Thr1003Lys) c.*1491C>A (n.*1491C>A) c.*3015C>A (n.*3015C>A) c.2765C>A (p.Thr922Lys) c.782C>A (p.Thr261Lys) c.841C>A c.1973C>A (p.Thr658Lys) c.3101C>A (p.Thr1034Lys) c.16C>A c.3281C>A (p.Thr1094Lys) c.2948C>A (p.Thr983Lys) | |
7 | g.117611632C= | CA1737386885 | CFTR | c.3191C= (p.Thr1064=) c.*2905C= (n.*2905C=) c.3008C= (p.Thr1003=) c.*1491C= (n.*1491C=) c.*3015C= (n.*3015C=) c.2765C= (p.Thr922=) c.782C= (p.Thr261=) c.841C= c.1973C= (p.Thr658=) c.3101C= (p.Thr1034=) c.16C= c.3281C= (p.Thr1094=) c.2948C= (p.Thr983=) | |
7 | g.117611632C>G | CA368992024 | CFTR | c.3191C>G (p.Thr1064Arg) c.*2905C>G (n.*2905C>G) c.3008C>G (p.Thr1003Arg) c.*1491C>G (n.*1491C>G) c.*3015C>G (n.*3015C>G) c.2765C>G (p.Thr922Arg) c.782C>G (p.Thr261Arg) c.841C>G c.1973C>G (p.Thr658Arg) c.3101C>G (p.Thr1034Arg) c.16C>G c.3281C>G (p.Thr1094Arg) c.2948C>G (p.Thr983Arg) | |
7 | g.117611632C>T | CA368992026 | CFTR | c.3191C>T (p.Thr1064Ile) c.*2905C>T (n.*2905C>T) c.3008C>T (p.Thr1003Ile) c.*1491C>T (n.*1491C>T) c.*3015C>T (n.*3015C>T) c.2765C>T (p.Thr922Ile) c.782C>T (p.Thr261Ile) c.841C>T c.1973C>T (p.Thr658Ile) c.3101C>T (p.Thr1034Ile) c.16C>T c.3281C>T (p.Thr1094Ile) c.2948C>T (p.Thr983Ile) | |
7 | g.117611632_117611633insTTTTAAGCTTAAAAGG | CA915945437 | CFTR | c.3191_3192insTTTTAAGCTTAAAAGG (p.Leu1065PhefsTer16) c.*2905_*2906insTTTTAAGCTTAAAAGG (n.*2905_*2906insTTTTAAGCTTAAAAGG) c.3008_3009insTTTTAAGCTTAAAAGG (p.Leu1004PhefsTer16) c.*1491_*1492insTTTTAAGCTTAAAAGG (n.*1491_*1492insTTTTAAGCTTAAAAGG) c.*3015_*3016insTTTTAAGCTTAAAAGG (n.*3015_*3016insTTTTAAGCTTAAAAGG) c.2765_2766insTTTTAAGCTTAAAAGG (p.Leu923PhefsTer16) c.782_783insTTTTAAGCTTAAAAGG (p.Leu262PhefsTer16) c.841_842insTTTTAAGCTTAAAAGG c.1973_1974insTTTTAAGCTTAAAAGG (p.Leu659PhefsTer16) c.3101_3102insTTTTAAGCTTAAAAGG (p.Leu1035PhefsTer16) c.16_17insTTTTAAGCTTAAAAGG c.3281_3282insTTTTAAGCTTAAAAGG (p.Leu1095PhefsTer16) c.2948_2949insTTTTAAGCTTAAAAGG (p.Leu984PhefsTer16) | ClinVar dbSNP |
7 | g.117611633A= | CA1737386889 | CFTR | c.3192A= (p.Thr1064=) c.*2906A= (n.*2906A=) c.3009A= (p.Thr1003=) c.*1492A= (n.*1492A=) c.*3016A= (n.*3016A=) c.2766A= (p.Thr922=) c.783A= (p.Thr261=) c.842A= c.1974A= (p.Thr658=) c.3102A= (p.Thr1034=) c.17A= c.3282A= (p.Thr1094=) c.2949A= (p.Thr983=) | |
7 | g.117611633A>C | CA457230001 | CFTR | c.3192A>C (p.Thr1064=) c.*2906A>C (n.*2906A>C) c.3009A>C (p.Thr1003=) c.*1492A>C (n.*1492A>C) c.*3016A>C (n.*3016A>C) c.2766A>C (p.Thr922=) c.783A>C (p.Thr261=) c.842A>C c.1974A>C (p.Thr658=) c.3102A>C (p.Thr1034=) c.17A>C c.3282A>C (p.Thr1094=) c.2949A>C (p.Thr983=) | dbSNP |
7 | g.117611633A>G | CA457230002 | CFTR | c.3192A>G (p.Thr1064=) c.*2906A>G (n.*2906A>G) c.3009A>G (p.Thr1003=) c.*1492A>G (n.*1492A>G) c.*3016A>G (n.*3016A>G) c.2766A>G (p.Thr922=) c.783A>G (p.Thr261=) c.842A>G c.1974A>G (p.Thr658=) c.3102A>G (p.Thr1034=) c.17A>G c.3282A>G (p.Thr1094=) c.2949A>G (p.Thr983=) | dbSNP gnomAD v4 |
7 | g.117611633A>T | CA457230003 | CFTR | c.3192A>T (p.Thr1064=) c.*2906A>T (n.*2906A>T) c.3009A>T (p.Thr1003=) c.*1492A>T (n.*1492A>T) c.*3016A>T (n.*3016A>T) c.2766A>T (p.Thr922=) c.783A>T (p.Thr261=) c.842A>T c.1974A>T (p.Thr658=) c.3102A>T (p.Thr1034=) c.17A>T c.3282A>T (p.Thr1094=) c.2949A>T (p.Thr983=) | ClinVar gnomAD v4 |
7 | g.117611634C>A | CA368992030 | CFTR | c.3193C>A (p.Leu1065Ile) c.*2907C>A (n.*2907C>A) c.3010C>A (p.Leu1004Ile) c.*1493C>A (n.*1493C>A) c.*3017C>A (n.*3017C>A) c.2767C>A (p.Leu923Ile) c.784C>A (p.Leu262Ile) c.843C>A c.1975C>A (p.Leu659Ile) c.3103C>A (p.Leu1035Ile) c.18C>A c.3283C>A (p.Leu1095Ile) c.2950C>A (p.Leu984Ile) | |
7 | g.117611634C= | CA1737386896 | CFTR | c.3193C= (p.Leu1065=) c.*2907C= (n.*2907C=) c.3010C= (p.Leu1004=) c.*1493C= (n.*1493C=) c.*3017C= (n.*3017C=) c.2767C= (p.Leu923=) c.784C= (p.Leu262=) c.843C= c.1975C= (p.Leu659=) c.3103C= (p.Leu1035=) c.18C= c.3283C= (p.Leu1095=) c.2950C= (p.Leu984=) | |
7 | g.117611634C>G | CA368992032 | CFTR | c.3193C>G (p.Leu1065Val) c.*2907C>G (n.*2907C>G) c.3010C>G (p.Leu1004Val) c.*1493C>G (n.*1493C>G) c.*3017C>G (n.*3017C>G) c.2767C>G (p.Leu923Val) c.784C>G (p.Leu262Val) c.843C>G c.1975C>G (p.Leu659Val) c.3103C>G (p.Leu1035Val) c.18C>G c.3283C>G (p.Leu1095Val) c.2950C>G (p.Leu984Val) | |
7 | g.117611634C>T | CA327082 | CFTR | c.3193C>T (p.Leu1065Phe) c.*2907C>T (n.*2907C>T) c.3010C>T (p.Leu1004Phe) c.*1493C>T (n.*1493C>T) c.*3017C>T (n.*3017C>T) c.2767C>T (p.Leu923Phe) c.784C>T (p.Leu262Phe) c.843C>T c.1975C>T (p.Leu659Phe) c.3103C>T (p.Leu1035Phe) c.18C>T c.3283C>T (p.Leu1095Phe) c.2950C>T (p.Leu984Phe) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117611635T>A | CA368992036 | CFTR | c.3194T>A (p.Leu1065His) c.*2908T>A (n.*2908T>A) c.3011T>A (p.Leu1004His) c.*1494T>A (n.*1494T>A) c.*3018T>A (n.*3018T>A) c.2768T>A (p.Leu923His) c.785T>A (p.Leu262His) c.844T>A c.1976T>A (p.Leu659His) c.3104T>A (p.Leu1035His) c.19T>A c.3284T>A (p.Leu1095His) c.2951T>A (p.Leu984His) | |
7 | g.117611635T>C | CA325596 | CFTR | c.3194T>C (p.Leu1065Pro) c.*2908T>C (n.*2908T>C) c.3011T>C (p.Leu1004Pro) c.*1494T>C (n.*1494T>C) c.*3018T>C (n.*3018T>C) c.2768T>C (p.Leu923Pro) c.785T>C (p.Leu262Pro) c.844T>C c.1976T>C (p.Leu659Pro) c.3104T>C (p.Leu1035Pro) c.19T>C c.3284T>C (p.Leu1095Pro) c.2951T>C (p.Leu984Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.117611635T>G | CA327084 | CFTR | c.3194T>G (p.Leu1065Arg) c.*2908T>G (n.*2908T>G) c.3011T>G (p.Leu1004Arg) c.*1494T>G (n.*1494T>G) c.*3018T>G (n.*3018T>G) c.2768T>G (p.Leu923Arg) c.785T>G (p.Leu262Arg) c.844T>G c.1976T>G (p.Leu659Arg) c.3104T>G (p.Leu1035Arg) c.19T>G c.3284T>G (p.Leu1095Arg) c.2951T>G (p.Leu984Arg) | ClinVar dbSNP |
7 | g.117611635T= | CA1737386915 | CFTR | c.3194T= (p.Leu1065=) c.*2908T= (n.*2908T=) c.3011T= (p.Leu1004=) c.*1494T= (n.*1494T=) c.*3018T= (n.*3018T=) c.2768T= (p.Leu923=) c.785T= (p.Leu262=) c.844T= c.1976T= (p.Leu659=) c.3104T= (p.Leu1035=) c.19T= c.3284T= (p.Leu1095=) c.2951T= (p.Leu984=) | |
7 | g.117611636T>A | CA457230004 | CFTR | c.3195T>A (p.Leu1065=) c.*2909T>A (n.*2909T>A) c.3012T>A (p.Leu1004=) c.*1495T>A (n.*1495T>A) c.*3019T>A (n.*3019T>A) c.2769T>A (p.Leu923=) c.786T>A (p.Leu262=) c.845T>A c.1977T>A (p.Leu659=) c.3105T>A (p.Leu1035=) c.20T>A c.3285T>A (p.Leu1095=) c.2952T>A (p.Leu984=) | |
7 | g.117611636T>C | CA457230005 | CFTR | c.3195T>C (p.Leu1065=) c.*2909T>C (n.*2909T>C) c.3012T>C (p.Leu1004=) c.*1495T>C (n.*1495T>C) c.*3019T>C (n.*3019T>C) c.2769T>C (p.Leu923=) c.786T>C (p.Leu262=) c.845T>C c.1977T>C (p.Leu659=) c.3105T>C (p.Leu1035=) c.20T>C c.3285T>C (p.Leu1095=) c.2952T>C (p.Leu984=) | |
7 | g.117611636T>G | CA457230006 | CFTR | c.3195T>G (p.Leu1065=) c.*2909T>G (n.*2909T>G) c.3012T>G (p.Leu1004=) c.*1495T>G (n.*1495T>G) c.*3019T>G (n.*3019T>G) c.2769T>G (p.Leu923=) c.786T>G (p.Leu262=) c.845T>G c.1977T>G (p.Leu659=) c.3105T>G (p.Leu1035=) c.20T>G c.3285T>G (p.Leu1095=) c.2952T>G (p.Leu984=) | gnomAD v4 |
7 | g.117611637C>A | CA327085 | CFTR | c.3196C>A (p.Arg1066Ser) c.*2910C>A (n.*2910C>A) c.3013C>A (p.Arg1005Ser) c.*1496C>A (n.*1496C>A) c.*3020C>A (n.*3020C>A) c.2770C>A (p.Arg924Ser) c.787C>A (p.Arg263Ser) c.846C>A c.1978C>A (p.Arg660Ser) c.3106C>A (p.Arg1036Ser) c.21C>A c.3286C>A (p.Arg1096Ser) c.2953C>A (p.Arg985Ser) | ClinVar dbSNP |
7 | g.117611637C= | CA1737386931 | CFTR | c.3196C= (p.Arg1066=) c.*2910C= (n.*2910C=) c.3013C= (p.Arg1005=) c.*1496C= (n.*1496C=) c.*3020C= (n.*3020C=) c.2770C= (p.Arg924=) c.787C= (p.Arg263=) c.846C= c.1978C= (p.Arg660=) c.3106C= (p.Arg1036=) c.21C= c.3286C= (p.Arg1096=) c.2953C= (p.Arg985=) | |
7 | g.117611637C>G | CA368992041 | CFTR | c.3196C>G (p.Arg1066Gly) c.*2910C>G (n.*2910C>G) c.3013C>G (p.Arg1005Gly) c.*1496C>G (n.*1496C>G) c.*3020C>G (n.*3020C>G) c.2770C>G (p.Arg924Gly) c.787C>G (p.Arg263Gly) c.846C>G c.1978C>G (p.Arg660Gly) c.3106C>G (p.Arg1036Gly) c.21C>G c.3286C>G (p.Arg1096Gly) c.2953C>G (p.Arg985Gly) | |
7 | g.117611637C>T | CA325558 | CFTR | c.3196C>T (p.Arg1066Cys) c.*2910C>T (n.*2910C>T) c.3013C>T (p.Arg1005Cys) c.*1496C>T (n.*1496C>T) c.*3020C>T (n.*3020C>T) c.2770C>T (p.Arg924Cys) c.787C>T (p.Arg263Cys) c.846C>T c.1978C>T (p.Arg660Cys) c.3106C>T (p.Arg1036Cys) c.21C>T c.3286C>T (p.Arg1096Cys) c.2953C>T (p.Arg985Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117611638G>A | CA325555 | CFTR | c.3197G>A (p.Arg1066His) c.*2911G>A (n.*2911G>A) c.3014G>A (p.Arg1005His) c.*1497G>A (n.*1497G>A) c.*3021G>A (n.*3021G>A) c.2771G>A (p.Arg924His) c.788G>A (p.Arg263His) c.847G>A c.1979G>A (p.Arg660His) c.3107G>A (p.Arg1036His) c.22G>A c.3287G>A (p.Arg1096His) c.2954G>A (p.Arg985His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117611638G>C | CA368992046 | CFTR | c.3197G>C (p.Arg1066Pro) c.*2911G>C (n.*2911G>C) c.3014G>C (p.Arg1005Pro) c.*1497G>C (n.*1497G>C) c.*3021G>C (n.*3021G>C) c.2771G>C (p.Arg924Pro) c.788G>C (p.Arg263Pro) c.847G>C c.1979G>C (p.Arg660Pro) c.3107G>C (p.Arg1036Pro) c.22G>C c.3287G>C (p.Arg1096Pro) c.2954G>C (p.Arg985Pro) | |
7 | g.117611638G= | CA1737386939 | CFTR | c.3197G= (p.Arg1066=) c.*2911G= (n.*2911G=) c.3014G= (p.Arg1005=) c.*1497G= (n.*1497G=) c.*3021G= (n.*3021G=) c.2771G= (p.Arg924=) c.788G= (p.Arg263=) c.847G= c.1979G= (p.Arg660=) c.3107G= (p.Arg1036=) c.22G= c.3287G= (p.Arg1096=) c.2954G= (p.Arg985=) | |
7 | g.117611638G>T | CA327087 | CFTR | c.3197G>T (p.Arg1066Leu) c.*2911G>T (n.*2911G>T) c.3014G>T (p.Arg1005Leu) c.*1497G>T (n.*1497G>T) c.*3021G>T (n.*3021G>T) c.2771G>T (p.Arg924Leu) c.788G>T (p.Arg263Leu) c.847G>T c.1979G>T (p.Arg660Leu) c.3107G>T (p.Arg1036Leu) c.22G>T c.3287G>T (p.Arg1096Leu) c.2954G>T (p.Arg985Leu) | ClinVar dbSNP |
7 | g.117611639T>A | CA457230007 | CFTR | c.3198T>A (p.Arg1066=) c.*2912T>A (n.*2912T>A) c.3015T>A (p.Arg1005=) c.*1498T>A (n.*1498T>A) c.*3022T>A (n.*3022T>A) c.2772T>A (p.Arg924=) c.789T>A (p.Arg263=) c.848T>A c.1980T>A (p.Arg660=) c.3108T>A (p.Arg1036=) c.23T>A c.3288T>A (p.Arg1096=) c.2955T>A (p.Arg985=) | dbSNP |
7 | g.117611639T>C | CA457230008 | CFTR | c.3198T>C (p.Arg1066=) c.*2912T>C (n.*2912T>C) c.3015T>C (p.Arg1005=) c.*1498T>C (n.*1498T>C) c.*3022T>C (n.*3022T>C) c.2772T>C (p.Arg924=) c.789T>C (p.Arg263=) c.848T>C c.1980T>C (p.Arg660=) c.3108T>C (p.Arg1036=) c.23T>C c.3288T>C (p.Arg1096=) c.2955T>C (p.Arg985=) | gnomAD v4 |
7 | g.117611639T>G | CA457230009 | CFTR | c.3198T>G (p.Arg1066=) c.*2912T>G (n.*2912T>G) c.3015T>G (p.Arg1005=) c.*1498T>G (n.*1498T>G) c.*3022T>G (n.*3022T>G) c.2772T>G (p.Arg924=) c.789T>G (p.Arg263=) c.848T>G c.1980T>G (p.Arg660=) c.3108T>G (p.Arg1036=) c.23T>G c.3288T>G (p.Arg1096=) c.2955T>G (p.Arg985=) | |
7 | g.117611639T= | CA1737386945 | CFTR | c.3198T= (p.Arg1066=) c.*2912T= (n.*2912T=) c.3015T= (p.Arg1005=) c.*1498T= (n.*1498T=) c.*3022T= (n.*3022T=) c.2772T= (p.Arg924=) c.789T= (p.Arg263=) c.848T= c.1980T= (p.Arg660=) c.3108T= (p.Arg1036=) c.23T= c.3288T= (p.Arg1096=) c.2955T= (p.Arg985=) | |
7 | g.117611640G>A | CA221024 | CFTR | c.3199G>A (p.Ala1067Thr) c.*2913G>A (n.*2913G>A) c.3016G>A (p.Ala1006Thr) c.*1499G>A (n.*1499G>A) c.*3023G>A (n.*3023G>A) c.2773G>A (p.Ala925Thr) c.790G>A (p.Ala264Thr) c.849G>A c.1981G>A (p.Ala661Thr) c.3109G>A (p.Ala1037Thr) c.24G>A c.3289G>A (p.Ala1097Thr) c.2956G>A (p.Ala986Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611640G>C | CA327088 | CFTR | c.3199G>C (p.Ala1067Pro) c.*2913G>C (n.*2913G>C) c.3016G>C (p.Ala1006Pro) c.*1499G>C (n.*1499G>C) c.*3023G>C (n.*3023G>C) c.2773G>C (p.Ala925Pro) c.790G>C (p.Ala264Pro) c.849G>C c.1981G>C (p.Ala661Pro) c.3109G>C (p.Ala1037Pro) c.24G>C c.3289G>C (p.Ala1097Pro) c.2956G>C (p.Ala986Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117611640G= | CA1737386955 | CFTR | c.3199G= (p.Ala1067=) c.*2913G= (n.*2913G=) c.3016G= (p.Ala1006=) c.*1499G= (n.*1499G=) c.*3023G= (n.*3023G=) c.2773G= (p.Ala925=) c.790G= (p.Ala264=) c.849G= c.1981G= (p.Ala661=) c.3109G= (p.Ala1037=) c.24G= c.3289G= (p.Ala1097=) c.2956G= (p.Ala986=) | |
7 | g.117611640G>T | CA368992049 | CFTR | c.3199G>T (p.Ala1067Ser) c.*2913G>T (n.*2913G>T) c.3016G>T (p.Ala1006Ser) c.*1499G>T (n.*1499G>T) c.*3023G>T (n.*3023G>T) c.2773G>T (p.Ala925Ser) c.790G>T (p.Ala264Ser) c.849G>T c.1981G>T (p.Ala661Ser) c.3109G>T (p.Ala1037Ser) c.24G>T c.3289G>T (p.Ala1097Ser) c.2956G>T (p.Ala986Ser) | |
7 | g.117611641C>A | CA327091 | CFTR | c.3200C>A (p.Ala1067Asp) c.*2914C>A (n.*2914C>A) c.3017C>A (p.Ala1006Asp) c.*1500C>A (n.*1500C>A) c.*3024C>A (n.*3024C>A) c.2774C>A (p.Ala925Asp) c.791C>A (p.Ala264Asp) c.850C>A c.1982C>A (p.Ala661Asp) c.3110C>A (p.Ala1037Asp) c.25C>A c.3290C>A (p.Ala1097Asp) c.2957C>A (p.Ala986Asp) | dbSNP gnomAD v4 |
7 | g.117611641C= | CA1737386970 | CFTR | c.3200C= (p.Ala1067=) c.*2914C= (n.*2914C=) c.3017C= (p.Ala1006=) c.*1500C= (n.*1500C=) c.*3024C= (n.*3024C=) c.2774C= (p.Ala925=) c.791C= (p.Ala264=) c.850C= c.1982C= (p.Ala661=) c.3110C= (p.Ala1037=) c.25C= c.3290C= (p.Ala1097=) c.2957C= (p.Ala986=) | |
7 | g.117611641C>G | CA327093 | CFTR | c.3200C>G (p.Ala1067Gly) c.*2914C>G (n.*2914C>G) c.3017C>G (p.Ala1006Gly) c.*1500C>G (n.*1500C>G) c.*3024C>G (n.*3024C>G) c.2774C>G (p.Ala925Gly) c.791C>G (p.Ala264Gly) c.850C>G c.1982C>G (p.Ala661Gly) c.3110C>G (p.Ala1037Gly) c.25C>G c.3290C>G (p.Ala1097Gly) c.2957C>G (p.Ala986Gly) | ClinVar dbSNP gnomAD v4 |
7 | g.117611641C>T | CA327095 | CFTR | c.3200C>T (p.Ala1067Val) c.*2914C>T (n.*2914C>T) c.3017C>T (p.Ala1006Val) c.*1500C>T (n.*1500C>T) c.*3024C>T (n.*3024C>T) c.2774C>T (p.Ala925Val) c.791C>T (p.Ala264Val) c.850C>T c.1982C>T (p.Ala661Val) c.3110C>T (p.Ala1037Val) c.25C>T c.3290C>T (p.Ala1097Val) c.2957C>T (p.Ala986Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611642C>A | CA457230010 | CFTR | c.3201C>A (p.Ala1067=) c.*2915C>A (n.*2915C>A) c.3018C>A (p.Ala1006=) c.*1501C>A (n.*1501C>A) c.*3025C>A (n.*3025C>A) c.2775C>A (p.Ala925=) c.792C>A (p.Ala264=) c.851C>A c.1983C>A (p.Ala661=) c.3111C>A (p.Ala1037=) c.26C>A c.3291C>A (p.Ala1097=) c.2958C>A (p.Ala986=) | |
7 | g.117611642C= | CA1737386979 | CFTR | c.3201C= (p.Ala1067=) c.*2915C= (n.*2915C=) c.3018C= (p.Ala1006=) c.*1501C= (n.*1501C=) c.*3025C= (n.*3025C=) c.2775C= (p.Ala925=) c.792C= (p.Ala264=) c.851C= c.1983C= (p.Ala661=) c.3111C= (p.Ala1037=) c.26C= c.3291C= (p.Ala1097=) c.2958C= (p.Ala986=) | |
7 | g.117611642C>G | CA457230011 | CFTR | c.3201C>G (p.Ala1067=) c.*2915C>G (n.*2915C>G) c.3018C>G (p.Ala1006=) c.*1501C>G (n.*1501C>G) c.*3025C>G (n.*3025C>G) c.2775C>G (p.Ala925=) c.792C>G (p.Ala264=) c.851C>G c.1983C>G (p.Ala661=) c.3111C>G (p.Ala1037=) c.26C>G c.3291C>G (p.Ala1097=) c.2958C>G (p.Ala986=) | |
7 | g.117611642C>T | CA4451407 | CFTR | c.3201C>T (p.Ala1067=) c.*2915C>T (n.*2915C>T) c.3018C>T (p.Ala1006=) c.*1501C>T (n.*1501C>T) c.*3025C>T (n.*3025C>T) c.2775C>T (p.Ala925=) c.792C>T (p.Ala264=) c.851C>T c.1983C>T (p.Ala661=) c.3111C>T (p.Ala1037=) c.26C>T c.3291C>T (p.Ala1097=) c.2958C>T (p.Ala986=) | dbSNP ExAC |
7 | g.117611643T>A | CA368992061 | CFTR | c.3202T>A (p.Phe1068Ile) c.*2916T>A (n.*2916T>A) c.3019T>A (p.Phe1007Ile) c.*1502T>A (n.*1502T>A) c.*3026T>A (n.*3026T>A) c.2776T>A (p.Phe926Ile) c.793T>A (p.Phe265Ile) c.852T>A c.1984T>A (p.Phe662Ile) c.3112T>A (p.Phe1038Ile) c.27T>A c.3292T>A (p.Phe1098Ile) c.2959T>A (p.Phe987Ile) | |
7 | g.117611643T>C | CA368992063 | CFTR | c.3202T>C (p.Phe1068Leu) c.*2916T>C (n.*2916T>C) c.3019T>C (p.Phe1007Leu) c.*1502T>C (n.*1502T>C) c.*3026T>C (n.*3026T>C) c.2776T>C (p.Phe926Leu) c.793T>C (p.Phe265Leu) c.852T>C c.1984T>C (p.Phe662Leu) c.3112T>C (p.Phe1038Leu) c.27T>C c.3292T>C (p.Phe1098Leu) c.2959T>C (p.Phe987Leu) | |
7 | g.117611643T>G | CA368992066 | CFTR | c.3202T>G (p.Phe1068Val) c.*2916T>G (n.*2916T>G) c.3019T>G (p.Phe1007Val) c.*1502T>G (n.*1502T>G) c.*3026T>G (n.*3026T>G) c.2776T>G (p.Phe926Val) c.793T>G (p.Phe265Val) c.852T>G c.1984T>G (p.Phe662Val) c.3112T>G (p.Phe1038Val) c.27T>G c.3292T>G (p.Phe1098Val) c.2959T>G (p.Phe987Val) | ClinVar gnomAD v4 |
7 | g.117611644T>A | CA368992073 | CFTR | c.3203T>A (p.Phe1068Tyr) c.*2917T>A (n.*2917T>A) c.3020T>A (p.Phe1007Tyr) c.*1503T>A (n.*1503T>A) c.*3027T>A (n.*3027T>A) c.2777T>A (p.Phe926Tyr) c.794T>A (p.Phe265Tyr) c.853T>A c.1985T>A (p.Phe662Tyr) c.3113T>A (p.Phe1038Tyr) c.28T>A c.3293T>A (p.Phe1098Tyr) c.2960T>A (p.Phe987Tyr) | |
7 | g.117611644T>C | CA368992075 | CFTR | c.3203T>C (p.Phe1068Ser) c.*2917T>C (n.*2917T>C) c.3020T>C (p.Phe1007Ser) c.*1503T>C (n.*1503T>C) c.*3027T>C (n.*3027T>C) c.2777T>C (p.Phe926Ser) c.794T>C (p.Phe265Ser) c.853T>C c.1985T>C (p.Phe662Ser) c.3113T>C (p.Phe1038Ser) c.28T>C c.3293T>C (p.Phe1098Ser) c.2960T>C (p.Phe987Ser) | |
7 | g.117611644T>G | CA368992077 | CFTR | c.3203T>G (p.Phe1068Cys) c.*2917T>G (n.*2917T>G) c.3020T>G (p.Phe1007Cys) c.*1503T>G (n.*1503T>G) c.*3027T>G (n.*3027T>G) c.2777T>G (p.Phe926Cys) c.794T>G (p.Phe265Cys) c.853T>G c.1985T>G (p.Phe662Cys) c.3113T>G (p.Phe1038Cys) c.28T>G c.3293T>G (p.Phe1098Cys) c.2960T>G (p.Phe987Cys) | |
7 | g.117611645C>A | CA368992079 | CFTR | c.3204C>A (p.Phe1068Leu) c.*2918C>A (n.*2918C>A) c.3021C>A (p.Phe1007Leu) c.*1504C>A (n.*1504C>A) c.*3028C>A (n.*3028C>A) c.2778C>A (p.Phe926Leu) c.795C>A (p.Phe265Leu) c.854C>A c.1986C>A (p.Phe662Leu) c.3114C>A (p.Phe1038Leu) c.29C>A c.3294C>A (p.Phe1098Leu) c.2961C>A (p.Phe987Leu) | dbSNP |
7 | g.117611645C= | CA1737386989 | CFTR | c.3204C= (p.Phe1068=) c.*2918C= (n.*2918C=) c.3021C= (p.Phe1007=) c.*1504C= (n.*1504C=) c.*3028C= (n.*3028C=) c.2778C= (p.Phe926=) c.795C= (p.Phe265=) c.854C= c.1986C= (p.Phe662=) c.3114C= (p.Phe1038=) c.29C= c.3294C= (p.Phe1098=) c.2961C= (p.Phe987=) | |
7 | g.117611645C>G | CA368992081 | CFTR | c.3204C>G (p.Phe1068Leu) c.*2918C>G (n.*2918C>G) c.3021C>G (p.Phe1007Leu) c.*1504C>G (n.*1504C>G) c.*3028C>G (n.*3028C>G) c.2778C>G (p.Phe926Leu) c.795C>G (p.Phe265Leu) c.854C>G c.1986C>G (p.Phe662Leu) c.3114C>G (p.Phe1038Leu) c.29C>G c.3294C>G (p.Phe1098Leu) c.2961C>G (p.Phe987Leu) | |
7 | g.117611645C>T | CA4451408 | CFTR | c.3204C>T (p.Phe1068=) c.*2918C>T (n.*2918C>T) c.3021C>T (p.Phe1007=) c.*1504C>T (n.*1504C>T) c.*3028C>T (n.*3028C>T) c.2778C>T (p.Phe926=) c.795C>T (p.Phe265=) c.854C>T c.1986C>T (p.Phe662=) c.3114C>T (p.Phe1038=) c.29C>T c.3294C>T (p.Phe1098=) c.2961C>T (p.Phe987=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611646G>A | CA327097 | CFTR | c.3205G>A (p.Gly1069Arg) c.*2919G>A (n.*2919G>A) c.3022G>A (p.Gly1008Arg) c.*1505G>A (n.*1505G>A) c.*3029G>A (n.*3029G>A) c.2779G>A (p.Gly927Arg) c.796G>A (p.Gly266Arg) c.855G>A c.1987G>A (p.Gly663Arg) c.3115G>A (p.Gly1039Arg) c.30G>A c.3295G>A (p.Gly1099Arg) c.2962G>A (p.Gly988Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.117611646G>C | CA368992085 | CFTR | c.3205G>C (p.Gly1069Arg) c.*2919G>C (n.*2919G>C) c.3022G>C (p.Gly1008Arg) c.*1505G>C (n.*1505G>C) c.*3029G>C (n.*3029G>C) c.2779G>C (p.Gly927Arg) c.796G>C (p.Gly266Arg) c.855G>C c.1987G>C (p.Gly663Arg) c.3115G>C (p.Gly1039Arg) c.30G>C c.3295G>C (p.Gly1099Arg) c.2962G>C (p.Gly988Arg) | |
7 | g.117611646G= | CA1737386994 | CFTR | c.3205G= (p.Gly1069=) c.*2919G= (n.*2919G=) c.3022G= (p.Gly1008=) c.*1505G= (n.*1505G=) c.*3029G= (n.*3029G=) c.2779G= (p.Gly927=) c.796G= (p.Gly266=) c.855G= c.1987G= (p.Gly663=) c.3115G= (p.Gly1039=) c.30G= c.3295G= (p.Gly1099=) c.2962G= (p.Gly988=) | |
7 | g.117611646G>T | CA368992084 | CFTR | c.3205G>T (p.Gly1069Ter) c.*2919G>T (n.*2919G>T) c.3022G>T (p.Gly1008Ter) c.*1505G>T (n.*1505G>T) c.*3029G>T (n.*3029G>T) c.2779G>T (p.Gly927Ter) c.796G>T (p.Gly266Ter) c.855G>T c.1987G>T (p.Gly663Ter) c.3115G>T (p.Gly1039Ter) c.30G>T c.3295G>T (p.Gly1099Ter) c.2962G>T (p.Gly988Ter) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117611647G>A | CA368992086 | CFTR | c.3206G>A (p.Gly1069Glu) c.*2920G>A (n.*2920G>A) c.3023G>A (p.Gly1008Glu) c.*1506G>A (n.*1506G>A) c.*3030G>A (n.*3030G>A) c.2780G>A (p.Gly927Glu) c.797G>A (p.Gly266Glu) c.856G>A c.1988G>A (p.Gly663Glu) c.3116G>A (p.Gly1039Glu) c.31G>A c.3296G>A (p.Gly1099Glu) c.2963G>A (p.Gly988Glu) | |
7 | g.117611647G>C | CA368992087 | CFTR | c.3206G>C (p.Gly1069Ala) c.*2920G>C (n.*2920G>C) c.3023G>C (p.Gly1008Ala) c.*1506G>C (n.*1506G>C) c.*3030G>C (n.*3030G>C) c.2780G>C (p.Gly927Ala) c.797G>C (p.Gly266Ala) c.856G>C c.1988G>C (p.Gly663Ala) c.3116G>C (p.Gly1039Ala) c.31G>C c.3296G>C (p.Gly1099Ala) c.2963G>C (p.Gly988Ala) | |
7 | g.117611647G>T | CA368992088 | CFTR | c.3206G>T (p.Gly1069Val) c.*2920G>T (n.*2920G>T) c.3023G>T (p.Gly1008Val) c.*1506G>T (n.*1506G>T) c.*3030G>T (n.*3030G>T) c.2780G>T (p.Gly927Val) c.797G>T (p.Gly266Val) c.856G>T c.1988G>T (p.Gly663Val) c.3116G>T (p.Gly1039Val) c.31G>T c.3296G>T (p.Gly1099Val) c.2963G>T (p.Gly988Val) | gnomAD v4 |
7 | g.117611648A= | CA1737386999 | CFTR | c.3207A= (p.Gly1069=) c.*2921A= (n.*2921A=) c.3024A= (p.Gly1008=) c.*1507A= (n.*1507A=) c.*3031A= (n.*3031A=) c.2781A= (p.Gly927=) c.798A= (p.Gly266=) c.857A= c.1989A= (p.Gly663=) c.3117A= (p.Gly1039=) c.32A= c.3297A= (p.Gly1099=) c.2964A= (p.Gly988=) | |
7 | g.117611648A>C | CA457230012 | CFTR | c.3207A>C (p.Gly1069=) c.*2921A>C (n.*2921A>C) c.3024A>C (p.Gly1008=) c.*1507A>C (n.*1507A>C) c.*3031A>C (n.*3031A>C) c.2781A>C (p.Gly927=) c.798A>C (p.Gly266=) c.857A>C c.1989A>C (p.Gly663=) c.3117A>C (p.Gly1039=) c.32A>C c.3297A>C (p.Gly1099=) c.2964A>C (p.Gly988=) | |
7 | g.117611648A>G | CA457230013 | CFTR | c.3207A>G (p.Gly1069=) c.*2921A>G (n.*2921A>G) c.3024A>G (p.Gly1008=) c.*1507A>G (n.*1507A>G) c.*3031A>G (n.*3031A>G) c.2781A>G (p.Gly927=) c.798A>G (p.Gly266=) c.857A>G c.1989A>G (p.Gly663=) c.3117A>G (p.Gly1039=) c.32A>G c.3297A>G (p.Gly1099=) c.2964A>G (p.Gly988=) | COSMIC |
7 | g.117611648A>T | CA457230014 | CFTR | c.3207A>T (p.Gly1069=) c.*2921A>T (n.*2921A>T) c.3024A>T (p.Gly1008=) c.*1507A>T (n.*1507A>T) c.*3031A>T (n.*3031A>T) c.2781A>T (p.Gly927=) c.798A>T (p.Gly266=) c.857A>T c.1989A>T (p.Gly663=) c.3117A>T (p.Gly1039=) c.32A>T c.3297A>T (p.Gly1099=) c.2964A>T (p.Gly988=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117611649C>A | CA457230015 | CFTR | c.3208C>A (p.Arg1070=) c.*2922C>A (n.*2922C>A) c.3025C>A (p.Arg1009=) c.*1508C>A (n.*1508C>A) c.*3032C>A (n.*3032C>A) c.2782C>A (p.Arg928=) c.799C>A (p.Arg267=) c.858C>A c.1990C>A (p.Arg664=) c.3118C>A (p.Arg1040=) c.33C>A c.3298C>A (p.Arg1100=) c.2965C>A (p.Arg989=) | gnomAD v4 |
7 | g.117611649C= | CA1737387005 | CFTR | c.3208C= (p.Arg1070=) c.*2922C= (n.*2922C=) c.3025C= (p.Arg1009=) c.*1508C= (n.*1508C=) c.*3032C= (n.*3032C=) c.2782C= (p.Arg928=) c.799C= (p.Arg267=) c.858C= c.1990C= (p.Arg664=) c.3118C= (p.Arg1040=) c.33C= c.3298C= (p.Arg1100=) c.2965C= (p.Arg989=) | |
7 | g.117611649C>G | CA368992089 | CFTR | c.3208C>G (p.Arg1070Gly) c.*2922C>G (n.*2922C>G) c.3025C>G (p.Arg1009Gly) c.*1508C>G (n.*1508C>G) c.*3032C>G (n.*3032C>G) c.2782C>G (p.Arg928Gly) c.799C>G (p.Arg267Gly) c.858C>G c.1990C>G (p.Arg664Gly) c.3118C>G (p.Arg1040Gly) c.33C>G c.3298C>G (p.Arg1100Gly) c.2965C>G (p.Arg989Gly) | |
7 | g.117611649C>T | CA327099 | CFTR | c.3208C>T (p.Arg1070Trp) c.*2922C>T (n.*2922C>T) c.3025C>T (p.Arg1009Trp) c.*1508C>T (n.*1508C>T) c.*3032C>T (n.*3032C>T) c.2782C>T (p.Arg928Trp) c.799C>T (p.Arg267Trp) c.858C>T c.1990C>T (p.Arg664Trp) c.3118C>T (p.Arg1040Trp) c.33C>T c.3298C>T (p.Arg1100Trp) c.2965C>T (p.Arg989Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611650G>A | CA275095 | CFTR | c.3209G>A (p.Arg1070Gln) c.*2923G>A (n.*2923G>A) c.3026G>A (p.Arg1009Gln) c.*1509G>A (n.*1509G>A) c.*3033G>A (n.*3033G>A) c.2783G>A (p.Arg928Gln) c.800G>A (p.Arg267Gln) c.859G>A c.1991G>A (p.Arg664Gln) c.3119G>A (p.Arg1040Gln) c.34G>A c.3299G>A (p.Arg1100Gln) c.2966G>A (p.Arg989Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611650G>C | CA327100 | CFTR | c.3209G>C (p.Arg1070Pro) c.*2923G>C (n.*2923G>C) c.3026G>C (p.Arg1009Pro) c.*1509G>C (n.*1509G>C) c.*3033G>C (n.*3033G>C) c.2783G>C (p.Arg928Pro) c.800G>C (p.Arg267Pro) c.859G>C c.1991G>C (p.Arg664Pro) c.3119G>C (p.Arg1040Pro) c.34G>C c.3299G>C (p.Arg1100Pro) c.2966G>C (p.Arg989Pro) | ClinVar dbSNP |
7 | g.117611650G= | CA1737387022 | CFTR | c.3209G= (p.Arg1070=) c.*2923G= (n.*2923G=) c.3026G= (p.Arg1009=) c.*1509G= (n.*1509G=) c.*3033G= (n.*3033G=) c.2783G= (p.Arg928=) c.800G= (p.Arg267=) c.859G= c.1991G= (p.Arg664=) c.3119G= (p.Arg1040=) c.34G= c.3299G= (p.Arg1100=) c.2966G= (p.Arg989=) | |
7 | g.117611650G>T | CA368992092 | CFTR | c.3209G>T (p.Arg1070Leu) c.*2923G>T (n.*2923G>T) c.3026G>T (p.Arg1009Leu) c.*1509G>T (n.*1509G>T) c.*3033G>T (n.*3033G>T) c.2783G>T (p.Arg928Leu) c.800G>T (p.Arg267Leu) c.859G>T c.1991G>T (p.Arg664Leu) c.3119G>T (p.Arg1040Leu) c.34G>T c.3299G>T (p.Arg1100Leu) c.2966G>T (p.Arg989Leu) | COSMIC |
7 | g.117611651G>A | CA457230016 | CFTR | c.3210G>A (p.Arg1070=) c.*2924G>A (n.*2924G>A) c.3027G>A (p.Arg1009=) c.*1510G>A (n.*1510G>A) c.*3034G>A (n.*3034G>A) c.2784G>A (p.Arg928=) c.801G>A (p.Arg267=) c.860G>A c.1992G>A (p.Arg664=) c.3120G>A (p.Arg1040=) c.35G>A c.3300G>A (p.Arg1100=) c.2967G>A (p.Arg989=) | ClinVar dbSNP gnomAD v4 |
7 | g.117611651G>C | CA457230017 | CFTR | c.3210G>C (p.Arg1070=) c.*2924G>C (n.*2924G>C) c.3027G>C (p.Arg1009=) c.*1510G>C (n.*1510G>C) c.*3034G>C (n.*3034G>C) c.2784G>C (p.Arg928=) c.801G>C (p.Arg267=) c.860G>C c.1992G>C (p.Arg664=) c.3120G>C (p.Arg1040=) c.35G>C c.3300G>C (p.Arg1100=) c.2967G>C (p.Arg989=) | |
7 | g.117611651G= | CA1737387026 | CFTR | c.3210G= (p.Arg1070=) c.*2924G= (n.*2924G=) c.3027G= (p.Arg1009=) c.*1510G= (n.*1510G=) c.*3034G= (n.*3034G=) c.2784G= (p.Arg928=) c.801G= (p.Arg267=) c.860G= c.1992G= (p.Arg664=) c.3120G= (p.Arg1040=) c.35G= c.3300G= (p.Arg1100=) c.2967G= (p.Arg989=) | |
7 | g.117611651G>T | CA457230018 | CFTR | c.3210G>T (p.Arg1070=) c.*2924G>T (n.*2924G>T) c.3027G>T (p.Arg1009=) c.*1510G>T (n.*1510G>T) c.*3034G>T (n.*3034G>T) c.2784G>T (p.Arg928=) c.801G>T (p.Arg267=) c.860G>T c.1992G>T (p.Arg664=) c.3120G>T (p.Arg1040=) c.35G>T c.3300G>T (p.Arg1100=) c.2967G>T (p.Arg989=) | dbSNP |
7 | g.117611652C>A | CA368992094 | CFTR | c.3211C>A (p.Gln1071Lys) c.*2925C>A (n.*2925C>A) c.3028C>A (p.Gln1010Lys) c.*1511C>A (n.*1511C>A) c.*3035C>A (n.*3035C>A) c.2785C>A (p.Gln929Lys) c.802C>A (p.Gln268Lys) c.861C>A c.1993C>A (p.Gln665Lys) c.3121C>A (p.Gln1041Lys) c.36C>A c.3301C>A (p.Gln1101Lys) c.2968C>A (p.Gln990Lys) | |
7 | g.117611652C= | CA1737387030 | CFTR | c.3211C= (p.Gln1071=) c.*2925C= (n.*2925C=) c.3028C= (p.Gln1010=) c.*1511C= (n.*1511C=) c.*3035C= (n.*3035C=) c.2785C= (p.Gln929=) c.802C= (p.Gln268=) c.861C= c.1993C= (p.Gln665=) c.3121C= (p.Gln1041=) c.36C= c.3301C= (p.Gln1101=) c.2968C= (p.Gln990=) | |
7 | g.117611652C>G | CA368992095 | CFTR | c.3211C>G (p.Gln1071Glu) c.*2925C>G (n.*2925C>G) c.3028C>G (p.Gln1010Glu) c.*1511C>G (n.*1511C>G) c.*3035C>G (n.*3035C>G) c.2785C>G (p.Gln929Glu) c.802C>G (p.Gln268Glu) c.861C>G c.1993C>G (p.Gln665Glu) c.3121C>G (p.Gln1041Glu) c.36C>G c.3301C>G (p.Gln1101Glu) c.2968C>G (p.Gln990Glu) | |
7 | g.117611652C>T | CA327101 | CFTR | c.3211C>T (p.Gln1071Ter) c.*2925C>T (n.*2925C>T) c.3028C>T (p.Gln1010Ter) c.*1511C>T (n.*1511C>T) c.*3035C>T (n.*3035C>T) c.2785C>T (p.Gln929Ter) c.802C>T (p.Gln268Ter) c.861C>T c.1993C>T (p.Gln665Ter) c.3121C>T (p.Gln1041Ter) c.36C>T c.3301C>T (p.Gln1101Ter) c.2968C>T (p.Gln990Ter) | ClinVar dbSNP COSMIC |
7 | g.117611653A= | CA1737387041 | CFTR | c.3212A= (p.Gln1071=) c.*2926A= (n.*2926A=) c.3029A= (p.Gln1010=) c.*1512A= (n.*1512A=) c.*3036A= (n.*3036A=) c.2786A= (p.Gln929=) c.803A= (p.Gln268=) c.862A= c.1994A= (p.Gln665=) c.3122A= (p.Gln1041=) c.37A= c.3302A= (p.Gln1101=) c.2969A= (p.Gln990=) | |
7 | g.117611653A>C | CA325597 | CFTR | c.3212A>C (p.Gln1071Pro) c.*2926A>C (n.*2926A>C) c.3029A>C (p.Gln1010Pro) c.*1512A>C (n.*1512A>C) c.*3036A>C (n.*3036A>C) c.2786A>C (p.Gln929Pro) c.803A>C (p.Gln268Pro) c.862A>C c.1994A>C (p.Gln665Pro) c.3122A>C (p.Gln1041Pro) c.37A>C c.3302A>C (p.Gln1101Pro) c.2969A>C (p.Gln990Pro) | ClinVar dbSNP |
7 | g.117611653A>G | CA368992101 | CFTR | c.3212A>G (p.Gln1071Arg) c.*2926A>G (n.*2926A>G) c.3029A>G (p.Gln1010Arg) c.*1512A>G (n.*1512A>G) c.*3036A>G (n.*3036A>G) c.2786A>G (p.Gln929Arg) c.803A>G (p.Gln268Arg) c.862A>G c.1994A>G (p.Gln665Arg) c.3122A>G (p.Gln1041Arg) c.37A>G c.3302A>G (p.Gln1101Arg) c.2969A>G (p.Gln990Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611653A>T | CA368992099 | CFTR | c.3212A>T (p.Gln1071Leu) c.*2926A>T (n.*2926A>T) c.3029A>T (p.Gln1010Leu) c.*1512A>T (n.*1512A>T) c.*3036A>T (n.*3036A>T) c.2786A>T (p.Gln929Leu) c.803A>T (p.Gln268Leu) c.862A>T c.1994A>T (p.Gln665Leu) c.3122A>T (p.Gln1041Leu) c.37A>T c.3302A>T (p.Gln1101Leu) c.2969A>T (p.Gln990Leu) | |
7 | g.117611654G>A | CA457230019 | CFTR | c.3213G>A (p.Gln1071=) c.*2927G>A (n.*2927G>A) c.3030G>A (p.Gln1010=) c.*1513G>A (n.*1513G>A) c.*3037G>A (n.*3037G>A) c.2787G>A (p.Gln929=) c.804G>A (p.Gln268=) c.863G>A c.1995G>A (p.Gln665=) c.3123G>A (p.Gln1041=) c.38G>A c.3303G>A (p.Gln1101=) c.2970G>A (p.Gln990=) | ClinVar gnomAD v4 |
7 | g.117611654G>C | CA368992102 | CFTR | c.3213G>C (p.Gln1071His) c.*2927G>C (n.*2927G>C) c.3030G>C (p.Gln1010His) c.*1513G>C (n.*1513G>C) c.*3037G>C (n.*3037G>C) c.2787G>C (p.Gln929His) c.804G>C (p.Gln268His) c.863G>C c.1995G>C (p.Gln665His) c.3123G>C (p.Gln1041His) c.38G>C c.3303G>C (p.Gln1101His) c.2970G>C (p.Gln990His) | |
7 | g.117611654G>T | CA368992104 | CFTR | c.3213G>T (p.Gln1071His) c.*2927G>T (n.*2927G>T) c.3030G>T (p.Gln1010His) c.*1513G>T (n.*1513G>T) c.*3037G>T (n.*3037G>T) c.2787G>T (p.Gln929His) c.804G>T (p.Gln268His) c.863G>T c.1995G>T (p.Gln665His) c.3123G>T (p.Gln1041His) c.38G>T c.3303G>T (p.Gln1101His) c.2970G>T (p.Gln990His) | gnomAD v4 |
7 | g.117611655C>A | CA368992106 | CFTR | c.3214C>A (p.Pro1072Thr) c.*2928C>A (n.*2928C>A) c.3031C>A (p.Pro1011Thr) c.*1514C>A (n.*1514C>A) c.*3038C>A (n.*3038C>A) c.2788C>A (p.Pro930Thr) c.805C>A (p.Pro269Thr) c.864C>A c.1996C>A (p.Pro666Thr) c.3124C>A (p.Pro1042Thr) c.39C>A c.3304C>A (p.Pro1102Thr) c.2971C>A (p.Pro991Thr) | |
7 | g.117611655C= | CA1737387053 | CFTR | c.3214C= (p.Pro1072=) c.*2928C= (n.*2928C=) c.3031C= (p.Pro1011=) c.*1514C= (n.*1514C=) c.*3038C= (n.*3038C=) c.2788C= (p.Pro930=) c.805C= (p.Pro269=) c.864C= c.1996C= (p.Pro666=) c.3124C= (p.Pro1042=) c.39C= c.3304C= (p.Pro1102=) c.2971C= (p.Pro991=) | |
7 | g.117611655C>G | CA368992108 | CFTR | c.3214C>G (p.Pro1072Ala) c.*2928C>G (n.*2928C>G) c.3031C>G (p.Pro1011Ala) c.*1514C>G (n.*1514C>G) c.*3038C>G (n.*3038C>G) c.2788C>G (p.Pro930Ala) c.805C>G (p.Pro269Ala) c.864C>G c.1996C>G (p.Pro666Ala) c.3124C>G (p.Pro1042Ala) c.39C>G c.3304C>G (p.Pro1102Ala) c.2971C>G (p.Pro991Ala) | |
7 | g.117611655C>T | CA368992109 | CFTR | c.3214C>T (p.Pro1072Ser) c.*2928C>T (n.*2928C>T) c.3031C>T (p.Pro1011Ser) c.*1514C>T (n.*1514C>T) c.*3038C>T (n.*3038C>T) c.2788C>T (p.Pro930Ser) c.805C>T (p.Pro269Ser) c.864C>T c.1996C>T (p.Pro666Ser) c.3124C>T (p.Pro1042Ser) c.39C>T c.3304C>T (p.Pro1102Ser) c.2971C>T (p.Pro991Ser) | ClinVar dbSNP |
7 | g.117611656C>A | CA368992113 | CFTR | c.3215C>A (p.Pro1072His) c.*2929C>A (n.*2929C>A) c.3032C>A (p.Pro1011His) c.*1515C>A (n.*1515C>A) c.*3039C>A (n.*3039C>A) c.2789C>A (p.Pro930His) c.806C>A (p.Pro269His) c.865C>A c.1997C>A (p.Pro666His) c.3125C>A (p.Pro1042His) c.40C>A c.3305C>A (p.Pro1102His) c.2972C>A (p.Pro991His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117611656C= | CA1737387057 | CFTR | c.3215C= (p.Pro1072=) c.*2929C= (n.*2929C=) c.3032C= (p.Pro1011=) c.*1515C= (n.*1515C=) c.*3039C= (n.*3039C=) c.2789C= (p.Pro930=) c.806C= (p.Pro269=) c.865C= c.1997C= (p.Pro666=) c.3125C= (p.Pro1042=) c.40C= c.3305C= (p.Pro1102=) c.2972C= (p.Pro991=) | |
7 | g.117611656C>G | CA368992115 | CFTR | c.3215C>G (p.Pro1072Arg) c.*2929C>G (n.*2929C>G) c.3032C>G (p.Pro1011Arg) c.*1515C>G (n.*1515C>G) c.*3039C>G (n.*3039C>G) c.2789C>G (p.Pro930Arg) c.806C>G (p.Pro269Arg) c.865C>G c.1997C>G (p.Pro666Arg) c.3125C>G (p.Pro1042Arg) c.40C>G c.3305C>G (p.Pro1102Arg) c.2972C>G (p.Pro991Arg) | |
7 | g.117611656C>T | CA368992116 | CFTR | c.3215C>T (p.Pro1072Leu) c.*2929C>T (n.*2929C>T) c.3032C>T (p.Pro1011Leu) c.*1515C>T (n.*1515C>T) c.*3039C>T (n.*3039C>T) c.2789C>T (p.Pro930Leu) c.806C>T (p.Pro269Leu) c.865C>T c.1997C>T (p.Pro666Leu) c.3125C>T (p.Pro1042Leu) c.40C>T c.3305C>T (p.Pro1102Leu) c.2972C>T (p.Pro991Leu) | |
7 | g.117611657T>A | CA457230020 | CFTR | c.3216T>A (p.Pro1072=) c.*2930T>A (n.*2930T>A) c.3033T>A (p.Pro1011=) c.*1516T>A (n.*1516T>A) c.*3040T>A (n.*3040T>A) c.2790T>A (p.Pro930=) c.807T>A (p.Pro269=) c.866T>A c.1998T>A (p.Pro666=) c.3126T>A (p.Pro1042=) c.41T>A c.3306T>A (p.Pro1102=) c.2973T>A (p.Pro991=) | |
7 | g.117611657T>C | CA457230021 | CFTR | c.3216T>C (p.Pro1072=) c.*2930T>C (n.*2930T>C) c.3033T>C (p.Pro1011=) c.*1516T>C (n.*1516T>C) c.*3040T>C (n.*3040T>C) c.2790T>C (p.Pro930=) c.807T>C (p.Pro269=) c.866T>C c.1998T>C (p.Pro666=) c.3126T>C (p.Pro1042=) c.41T>C c.3306T>C (p.Pro1102=) c.2973T>C (p.Pro991=) | |
7 | g.117611657T>G | CA457230022 | CFTR | c.3216T>G (p.Pro1072=) c.*2930T>G (n.*2930T>G) c.3033T>G (p.Pro1011=) c.*1516T>G (n.*1516T>G) c.*3040T>G (n.*3040T>G) c.2790T>G (p.Pro930=) c.807T>G (p.Pro269=) c.866T>G c.1998T>G (p.Pro666=) c.3126T>G (p.Pro1042=) c.41T>G c.3306T>G (p.Pro1102=) c.2973T>G (p.Pro991=) | |
7 | g.117611658dup | CA4451409 | CFTR | c.3217dup (p.Tyr1073LeufsTer3) c.*2931dup (n.*2931dup) c.3034dup (p.Tyr1012LeufsTer3) c.*1517dup (n.*1517dup) c.*3041dup (n.*3041dup) c.2791dup (p.Tyr931LeufsTer3) c.808dup (p.Tyr270LeufsTer3) c.867dup c.1999dup (p.Tyr667LeufsTer3) c.3127dup (p.Tyr1043LeufsTer3) c.42dup c.3307dup (p.Tyr1103LeufsTer3) c.2974dup (p.Tyr992LeufsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117611658T>A | CA368992118 | CFTR | c.3217T>A (p.Tyr1073Asn) c.*2931T>A (n.*2931T>A) c.3034T>A (p.Tyr1012Asn) c.*1517T>A (n.*1517T>A) c.*3041T>A (n.*3041T>A) c.2791T>A (p.Tyr931Asn) c.808T>A (p.Tyr270Asn) c.867T>A c.1999T>A (p.Tyr667Asn) c.3127T>A (p.Tyr1043Asn) c.42T>A c.3307T>A (p.Tyr1103Asn) c.2974T>A (p.Tyr992Asn) | |
7 | g.117611658T>C | CA368992120 | CFTR | c.3217T>C (p.Tyr1073His) c.*2931T>C (n.*2931T>C) c.3034T>C (p.Tyr1012His) c.*1517T>C (n.*1517T>C) c.*3041T>C (n.*3041T>C) c.2791T>C (p.Tyr931His) c.808T>C (p.Tyr270His) c.867T>C c.1999T>C (p.Tyr667His) c.3127T>C (p.Tyr1043His) c.42T>C c.3307T>C (p.Tyr1103His) c.2974T>C (p.Tyr992His) | |
7 | g.117611658T>G | CA368992122 | CFTR | c.3217T>G (p.Tyr1073Asp) c.*2931T>G (n.*2931T>G) c.3034T>G (p.Tyr1012Asp) c.*1517T>G (n.*1517T>G) c.*3041T>G (n.*3041T>G) c.2791T>G (p.Tyr931Asp) c.808T>G (p.Tyr270Asp) c.867T>G c.1999T>G (p.Tyr667Asp) c.3127T>G (p.Tyr1043Asp) c.42T>G c.3307T>G (p.Tyr1103Asp) c.2974T>G (p.Tyr992Asp) | gnomAD v4 |
7 | g.117611659A>C | CA368992128 | CFTR | c.3218A>C (p.Tyr1073Ser) c.*2932A>C (n.*2932A>C) c.3035A>C (p.Tyr1012Ser) c.*1518A>C (n.*1518A>C) c.*3042A>C (n.*3042A>C) c.2792A>C (p.Tyr931Ser) c.809A>C (p.Tyr270Ser) c.868A>C c.2000A>C (p.Tyr667Ser) c.3128A>C (p.Tyr1043Ser) c.43A>C c.3308A>C (p.Tyr1103Ser) c.2975A>C (p.Tyr992Ser) | |
7 | g.117611659A>G | CA368992125 | CFTR | c.3218A>G (p.Tyr1073Cys) c.*2932A>G (n.*2932A>G) c.3035A>G (p.Tyr1012Cys) c.*1518A>G (n.*1518A>G) c.*3042A>G (n.*3042A>G) c.2792A>G (p.Tyr931Cys) c.809A>G (p.Tyr270Cys) c.868A>G c.2000A>G (p.Tyr667Cys) c.3128A>G (p.Tyr1043Cys) c.43A>G c.3308A>G (p.Tyr1103Cys) c.2975A>G (p.Tyr992Cys) | |
7 | g.117611659A>T | CA368992126 | CFTR | c.3218A>T (p.Tyr1073Phe) c.*2932A>T (n.*2932A>T) c.3035A>T (p.Tyr1012Phe) c.*1518A>T (n.*1518A>T) c.*3042A>T (n.*3042A>T) c.2792A>T (p.Tyr931Phe) c.809A>T (p.Tyr270Phe) c.868A>T c.2000A>T (p.Tyr667Phe) c.3128A>T (p.Tyr1043Phe) c.43A>T c.3308A>T (p.Tyr1103Phe) c.2975A>T (p.Tyr992Phe) | |
7 | g.117611659_117611660delinsAC | CA1737387069 | CFTR | c.3218_3219delinsAC (p.Tyr1073=) c.*2932_*2933delinsAC (n.*2932_*2933delinsAC) c.3035_3036delinsAC (p.Tyr1012=) c.*1518_*1519delinsAC (n.*1518_*1519delinsAC) c.*3042_*3043delinsAC (n.*3042_*3043delinsAC) c.2792_2793delinsAC (p.Tyr931=) c.809_810delinsAC (p.Tyr270=) c.868_869delinsAC c.2000_2001delinsAC (p.Tyr667=) c.3128_3129delinsAC (p.Tyr1043=) c.43_44delinsAC c.3308_3309delinsAC (p.Tyr1103=) c.2975_2976delinsAC (p.Tyr992=) | |
7 | g.117611660del | CA918111983 | CFTR | c.3219del (p.Phe1074LeufsTer9) c.*2933del (n.*2933del) c.3036del (p.Phe1013LeufsTer9) c.*1519del (n.*1519del) c.*3043del (n.*3043del) c.2793del (p.Phe932LeufsTer9) c.810del (p.Phe271LeufsTer9) c.869del c.2001del (p.Phe668LeufsTer9) c.3129del (p.Phe1044LeufsTer9) c.44del c.3309del (p.Phe1104LeufsTer9) c.2976del (p.Phe993LeufsTer9) | dbSNP |
7 | g.117611660C>A | CA368992131 | CFTR | c.3219C>A (p.Tyr1073Ter) c.*2933C>A (n.*2933C>A) c.3036C>A (p.Tyr1012Ter) c.*1519C>A (n.*1519C>A) c.*3043C>A (n.*3043C>A) c.2793C>A (p.Tyr931Ter) c.810C>A (p.Tyr270Ter) c.869C>A c.2001C>A (p.Tyr667Ter) c.3129C>A (p.Tyr1043Ter) c.44C>A c.3309C>A (p.Tyr1103Ter) c.2976C>A (p.Tyr992Ter) | |
7 | g.117611660C= | CA1737387074 | CFTR | c.3219C= (p.Tyr1073=) c.*2933C= (n.*2933C=) c.3036C= (p.Tyr1012=) c.*1519C= (n.*1519C=) c.*3043C= (n.*3043C=) c.2793C= (p.Tyr931=) c.810C= (p.Tyr270=) c.869C= c.2001C= (p.Tyr667=) c.3129C= (p.Tyr1043=) c.44C= c.3309C= (p.Tyr1103=) c.2976C= (p.Tyr992=) | |
7 | g.117611660C>G | CA368992132 | CFTR | c.3219C>G (p.Tyr1073Ter) c.*2933C>G (n.*2933C>G) c.3036C>G (p.Tyr1012Ter) c.*1519C>G (n.*1519C>G) c.*3043C>G (n.*3043C>G) c.2793C>G (p.Tyr931Ter) c.810C>G (p.Tyr270Ter) c.869C>G c.2001C>G (p.Tyr667Ter) c.3129C>G (p.Tyr1043Ter) c.44C>G c.3309C>G (p.Tyr1103Ter) c.2976C>G (p.Tyr992Ter) | |
7 | g.117611660C>T | CA457230023 | CFTR | c.3219C>T (p.Tyr1073=) c.*2933C>T (n.*2933C>T) c.3036C>T (p.Tyr1012=) c.*1519C>T (n.*1519C>T) c.*3043C>T (n.*3043C>T) c.2793C>T (p.Tyr931=) c.810C>T (p.Tyr270=) c.869C>T c.2001C>T (p.Tyr667=) c.3129C>T (p.Tyr1043=) c.44C>T c.3309C>T (p.Tyr1103=) c.2976C>T (p.Tyr992=) | ClinVar dbSNP gnomAD v4 |
7 | g.117611661T>A | CA368992134 | CFTR | c.3220T>A (p.Phe1074Ile) c.*2934T>A (n.*2934T>A) c.3037T>A (p.Phe1013Ile) c.*1520T>A (n.*1520T>A) c.*3044T>A (n.*3044T>A) c.2794T>A (p.Phe932Ile) c.811T>A (p.Phe271Ile) c.870T>A c.2002T>A (p.Phe668Ile) c.3130T>A (p.Phe1044Ile) c.45T>A c.3310T>A (p.Phe1104Ile) c.2977T>A (p.Phe993Ile) | |
7 | g.117611661T>C | CA368992136 | CFTR | c.3220T>C (p.Phe1074Leu) c.*2934T>C (n.*2934T>C) c.3037T>C (p.Phe1013Leu) c.*1520T>C (n.*1520T>C) c.*3044T>C (n.*3044T>C) c.2794T>C (p.Phe932Leu) c.811T>C (p.Phe271Leu) c.870T>C c.2002T>C (p.Phe668Leu) c.3130T>C (p.Phe1044Leu) c.45T>C c.3310T>C (p.Phe1104Leu) c.2977T>C (p.Phe993Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117611661T>G | CA368992138 | CFTR | c.3220T>G (p.Phe1074Val) c.*2934T>G (n.*2934T>G) c.3037T>G (p.Phe1013Val) c.*1520T>G (n.*1520T>G) c.*3044T>G (n.*3044T>G) c.2794T>G (p.Phe932Val) c.811T>G (p.Phe271Val) c.870T>G c.2002T>G (p.Phe668Val) c.3130T>G (p.Phe1044Val) c.45T>G c.3310T>G (p.Phe1104Val) c.2977T>G (p.Phe993Val) | |
7 | g.117611661T= | CA1737387077 | CFTR | c.3220T= (p.Phe1074=) c.*2934T= (n.*2934T=) c.3037T= (p.Phe1013=) c.*1520T= (n.*1520T=) c.*3044T= (n.*3044T=) c.2794T= (p.Phe932=) c.811T= (p.Phe271=) c.870T= c.2002T= (p.Phe668=) c.3130T= (p.Phe1044=) c.45T= c.3310T= (p.Phe1104=) c.2977T= (p.Phe993=) | |
7 | g.117611662T>A | CA368992139 | CFTR | c.3221T>A (p.Phe1074Tyr) c.*2935T>A (n.*2935T>A) c.3038T>A (p.Phe1013Tyr) c.*1521T>A (n.*1521T>A) c.*3045T>A (n.*3045T>A) c.2795T>A (p.Phe932Tyr) c.812T>A (p.Phe271Tyr) c.871T>A c.2003T>A (p.Phe668Tyr) c.3131T>A (p.Phe1044Tyr) c.46T>A c.3311T>A (p.Phe1104Tyr) c.2978T>A (p.Phe993Tyr) | |
7 | g.117611662T>C | CA368992141 | CFTR | c.3221T>C (p.Phe1074Ser) c.*2935T>C (n.*2935T>C) c.3038T>C (p.Phe1013Ser) c.*1521T>C (n.*1521T>C) c.*3045T>C (n.*3045T>C) c.2795T>C (p.Phe932Ser) c.812T>C (p.Phe271Ser) c.871T>C c.2003T>C (p.Phe668Ser) c.3131T>C (p.Phe1044Ser) c.46T>C c.3311T>C (p.Phe1104Ser) c.2978T>C (p.Phe993Ser) | |
7 | g.117611662T>G | CA368992142 | CFTR | c.3221T>G (p.Phe1074Cys) c.*2935T>G (n.*2935T>G) c.3038T>G (p.Phe1013Cys) c.*1521T>G (n.*1521T>G) c.*3045T>G (n.*3045T>G) c.2795T>G (p.Phe932Cys) c.812T>G (p.Phe271Cys) c.871T>G c.2003T>G (p.Phe668Cys) c.3131T>G (p.Phe1044Cys) c.46T>G c.3311T>G (p.Phe1104Cys) c.2978T>G (p.Phe993Cys) | |
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) |