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.117609611_117610615delinsGACAG | CA915945433 | CFTR | c.2989-908_3085delinsGACAG c.*2703-908_*2799delinsGACAG c.2806-908_2902delinsGACAG c.*1289-908_*1385delinsGACAG c.*2813-908_*2909delinsGACAG c.2563-908_2659delinsGACAG c.580-908_676delinsGACAG c.639-908_735delinsGACAG c.1771-908_1867delinsGACAG c.2899-908_2995delinsGACAG c.3079-908_3175delinsGACAG c.2746-908_2842delinsGACAG | 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.117610516_117610667delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA | CA1737384620 | CFTR | c.2989-3_3137delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.*2703-3_*2851delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.2806-3_2954delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.*1289-3_*1437delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.*2813-3_*2961delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.2563-3_2711delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.580-3_728delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.639-3_787delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.1771-3_1919delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.2899-3_3047delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.3079-3_3227delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.2746-3_2894delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA | |
7 | g.117610519_117610669del | CA326999 | CFTR | c.2989_3139del c.*2703_*2853del c.2806_2956del c.*1289_*1439del c.*2813_*2963del c.2563_2713del c.580_730del c.639_789del c.1771_1921del c.2899_3049del c.3079_3229del c.2746_2896del | ClinVar dbSNP |
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.117610592C>A | CA368990672 | CFTR | c.3062C>A (p.Pro1021Gln) c.*2776C>A (n.*2776C>A) c.2879C>A (p.Pro960Gln) c.*1362C>A (n.*1362C>A) c.*2886C>A (n.*2886C>A) c.2636C>A (p.Pro879Gln) c.653C>A (p.Pro218Gln) c.712C>A c.1844C>A (p.Pro615Gln) c.2972C>A (p.Pro991Gln) c.3152C>A (p.Pro1051Gln) c.2819C>A (p.Pro940Gln) | |
7 | g.117610592C= | CA1737384959 | CFTR | c.3062C= (p.Pro1021=) c.*2776C= (n.*2776C=) c.2879C= (p.Pro960=) c.*1362C= (n.*1362C=) c.*2886C= (n.*2886C=) c.2636C= (p.Pro879=) c.653C= (p.Pro218=) c.712C= c.1844C= (p.Pro615=) c.2972C= (p.Pro991=) c.3152C= (p.Pro1051=) c.2819C= (p.Pro940=) | |
7 | g.117610592C>G | CA368990670 | CFTR | c.3062C>G (p.Pro1021Arg) c.*2776C>G (n.*2776C>G) c.2879C>G (p.Pro960Arg) c.*1362C>G (n.*1362C>G) c.*2886C>G (n.*2886C>G) c.2636C>G (p.Pro879Arg) c.653C>G (p.Pro218Arg) c.712C>G c.1844C>G (p.Pro615Arg) c.2972C>G (p.Pro991Arg) c.3152C>G (p.Pro1051Arg) c.2819C>G (p.Pro940Arg) | |
7 | g.117610592C>T | CA368990667 | CFTR | c.3062C>T (p.Pro1021Leu) c.*2776C>T (n.*2776C>T) c.2879C>T (p.Pro960Leu) c.*1362C>T (n.*1362C>T) c.*2886C>T (n.*2886C>T) c.2636C>T (p.Pro879Leu) c.653C>T (p.Pro218Leu) c.712C>T c.1844C>T (p.Pro615Leu) c.2972C>T (p.Pro991Leu) c.3152C>T (p.Pro1051Leu) c.2819C>T (p.Pro940Leu) | ClinVar dbSNP |
7 | g.117610592_117610598delinsCAGTGAT | CA1737384952 | CFTR | c.3062_3068delinsCAGTGAT (p.Pro1021=) c.*2776_*2782delinsCAGTGAT (n.*2776_*2782delinsCAGTGAT) c.2879_2885delinsCAGTGAT (p.Pro960=) c.*1362_*1368delinsCAGTGAT (n.*1362_*1368delinsCAGTGAT) c.*2886_*2892delinsCAGTGAT (n.*2886_*2892delinsCAGTGAT) c.2636_2642delinsCAGTGAT (p.Pro879=) c.653_659delinsCAGTGAT (p.Pro218=) c.712_718delinsCAGTGAT c.1844_1850delinsCAGTGAT (p.Pro615=) c.2972_2978delinsCAGTGAT (p.Pro991=) c.3152_3158delinsCAGTGAT (p.Pro1051=) c.2819_2825delinsCAGTGAT (p.Pro940=) | |
7 | g.117610592_117610646delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA | CA1737384955 | CFTR | c.3062_3116delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA (p.Pro1021=) c.*2776_*2830delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA (n.*2776_*2830delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA) c.2879_2933delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA (p.Pro960=) c.*1362_*1416delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA (n.*1362_*1416delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA) c.*2886_*2940delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA (n.*2886_*2940delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA) c.2636_2690delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA (p.Pro879=) c.653_707delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA (p.Pro218=) c.712_766delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA c.1844_1898delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA (p.Pro615=) c.2972_3026delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA (p.Pro991=) c.3152_3206delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA (p.Pro1051=) c.2819_2873delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA (p.Pro940=) | |
7 | g.117610593A>C | CA457229411 | CFTR | c.3063A>C (p.Pro1021=) c.*2777A>C (n.*2777A>C) c.2880A>C (p.Pro960=) c.*1363A>C (n.*1363A>C) c.*2887A>C (n.*2887A>C) c.2637A>C (p.Pro879=) c.654A>C (p.Pro218=) c.713A>C c.1845A>C (p.Pro615=) c.2973A>C (p.Pro991=) c.3153A>C (p.Pro1051=) c.2820A>C (p.Pro940=) | |
7 | g.117610593A>G | CA457229410 | CFTR | c.3063A>G (p.Pro1021=) c.*2777A>G (n.*2777A>G) c.2880A>G (p.Pro960=) c.*1363A>G (n.*1363A>G) c.*2887A>G (n.*2887A>G) c.2637A>G (p.Pro879=) c.654A>G (p.Pro218=) c.713A>G c.1845A>G (p.Pro615=) c.2973A>G (p.Pro991=) c.3153A>G (p.Pro1051=) c.2820A>G (p.Pro940=) | ClinVar |
7 | g.117610593A>T | CA457229412 | CFTR | c.3063A>T (p.Pro1021=) c.*2777A>T (n.*2777A>T) c.2880A>T (p.Pro960=) c.*1363A>T (n.*1363A>T) c.*2887A>T (n.*2887A>T) c.2637A>T (p.Pro879=) c.654A>T (p.Pro218=) c.713A>T c.1845A>T (p.Pro615=) c.2973A>T (p.Pro991=) c.3153A>T (p.Pro1051=) c.2820A>T (p.Pro940=) | |
7 | g.117610597_117610602del | CA221021 | CFTR | c.3067_3072del (p.Ile1023_Val1024del) c.*2781_*2786del (n.*2781_*2786del) c.2884_2889del (p.Ile962_Val963del) c.*1367_*1372del (n.*1367_*1372del) c.*2891_*2896del (n.*2891_*2896del) c.2641_2646del (p.Ile881_Val882del) c.658_663del (p.Ile220_Val221del) c.717_722del c.1849_1854del (p.Ile617_Val618del) c.2977_2982del (p.Ile993_Val994del) c.3157_3162del (p.Ile1053_Val1054del) c.2824_2829del (p.Ile942_Val943del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117610594_117610647del | CA327035 | CFTR | c.3064_3117del (p.Val1022_Gln1039del) c.*2778_*2831del (n.*2778_*2831del) c.2881_2934del (p.Val961_Gln978del) c.*1364_*1417del (n.*1364_*1417del) c.*2888_*2941del (n.*2888_*2941del) c.2638_2691del (p.Val880_Gln897del) c.655_708del (p.Val219_Gln236del) c.714_767del c.1846_1899del (p.Val616_Gln633del) c.2974_3027del (p.Val992_Gln1009del) c.3154_3207del (p.Val1052_Gln1069del) c.2821_2874del (p.Val941_Gln958del) | ClinVar dbSNP |
7 | g.117610594G>A | CA4451371 | CFTR | c.3064G>A (p.Val1022Met) c.*2778G>A (n.*2778G>A) c.2881G>A (p.Val961Met) c.*1364G>A (n.*1364G>A) c.*2888G>A (n.*2888G>A) c.2638G>A (p.Val880Met) c.655G>A (p.Val219Met) c.714G>A c.1846G>A (p.Val616Met) c.2974G>A (p.Val992Met) c.3154G>A (p.Val1052Met) c.2821G>A (p.Val941Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117610594G>C | CA368990684 | CFTR | c.3064G>C (p.Val1022Leu) c.*2778G>C (n.*2778G>C) c.2881G>C (p.Val961Leu) c.*1364G>C (n.*1364G>C) c.*2888G>C (n.*2888G>C) c.2638G>C (p.Val880Leu) c.655G>C (p.Val219Leu) c.714G>C c.1846G>C (p.Val616Leu) c.2974G>C (p.Val992Leu) c.3154G>C (p.Val1052Leu) c.2821G>C (p.Val941Leu) | ClinVar dbSNP |
7 | g.117610594G= | CA1737384975 | CFTR | c.3064G= (p.Val1022=) c.*2778G= (n.*2778G=) c.2881G= (p.Val961=) c.*1364G= (n.*1364G=) c.*2888G= (n.*2888G=) c.2638G= (p.Val880=) c.655G= (p.Val219=) c.714G= c.1846G= (p.Val616=) c.2974G= (p.Val992=) c.3154G= (p.Val1052=) c.2821G= (p.Val941=) | |
7 | g.117610594G>T | CA368990686 | CFTR | c.3064G>T (p.Val1022Leu) c.*2778G>T (n.*2778G>T) c.2881G>T (p.Val961Leu) c.*1364G>T (n.*1364G>T) c.*2888G>T (n.*2888G>T) c.2638G>T (p.Val880Leu) c.655G>T (p.Val219Leu) c.714G>T c.1846G>T (p.Val616Leu) c.2974G>T (p.Val992Leu) c.3154G>T (p.Val1052Leu) c.2821G>T (p.Val941Leu) | |
7 | g.117610595T>A | CA368990689 | CFTR | c.3065T>A (p.Val1022Glu) c.*2779T>A (n.*2779T>A) c.2882T>A (p.Val961Glu) c.*1365T>A (n.*1365T>A) c.*2889T>A (n.*2889T>A) c.2639T>A (p.Val880Glu) c.656T>A (p.Val219Glu) c.715T>A c.1847T>A (p.Val616Glu) c.2975T>A (p.Val992Glu) c.3155T>A (p.Val1052Glu) c.2822T>A (p.Val941Glu) | |
7 | g.117610595T>C | CA368990690 | CFTR | c.3065T>C (p.Val1022Ala) c.*2779T>C (n.*2779T>C) c.2882T>C (p.Val961Ala) c.*1365T>C (n.*1365T>C) c.*2889T>C (n.*2889T>C) c.2639T>C (p.Val880Ala) c.656T>C (p.Val219Ala) c.715T>C c.1847T>C (p.Val616Ala) c.2975T>C (p.Val992Ala) c.3155T>C (p.Val1052Ala) c.2822T>C (p.Val941Ala) | ClinVar |
7 | g.117610595T>G | CA368990693 | CFTR | c.3065T>G (p.Val1022Gly) c.*2779T>G (n.*2779T>G) c.2882T>G (p.Val961Gly) c.*1365T>G (n.*1365T>G) c.*2889T>G (n.*2889T>G) c.2639T>G (p.Val880Gly) c.656T>G (p.Val219Gly) c.715T>G c.1847T>G (p.Val616Gly) c.2975T>G (p.Val992Gly) c.3155T>G (p.Val1052Gly) c.2822T>G (p.Val941Gly) | ClinVar |
7 | g.117610596G>A | CA457229414 | CFTR | c.3066G>A (p.Val1022=) c.*2780G>A (n.*2780G>A) c.2883G>A (p.Val961=) c.*1366G>A (n.*1366G>A) c.*2890G>A (n.*2890G>A) c.2640G>A (p.Val880=) c.657G>A (p.Val219=) c.716G>A c.1848G>A (p.Val616=) c.2976G>A (p.Val992=) c.3156G>A (p.Val1052=) c.2823G>A (p.Val941=) | ClinVar |
7 | g.117610596G>C | CA457229415 | CFTR | c.3066G>C (p.Val1022=) c.*2780G>C (n.*2780G>C) c.2883G>C (p.Val961=) c.*1366G>C (n.*1366G>C) c.*2890G>C (n.*2890G>C) c.2640G>C (p.Val880=) c.657G>C (p.Val219=) c.716G>C c.1848G>C (p.Val616=) c.2976G>C (p.Val992=) c.3156G>C (p.Val1052=) c.2823G>C (p.Val941=) | |
7 | g.117610596G>T | CA457229413 | CFTR | c.3066G>T (p.Val1022=) c.*2780G>T (n.*2780G>T) c.2883G>T (p.Val961=) c.*1366G>T (n.*1366G>T) c.*2890G>T (n.*2890G>T) c.2640G>T (p.Val880=) c.657G>T (p.Val219=) c.716G>T c.1848G>T (p.Val616=) c.2976G>T (p.Val992=) c.3156G>T (p.Val1052=) c.2823G>T (p.Val941=) | COSMIC |
7 | g.117610597A= | CA1737384982 | CFTR | c.3067A= (p.Ile1023=) c.*2781A= (n.*2781A=) c.2884A= (p.Ile962=) c.*1367A= (n.*1367A=) c.*2891A= (n.*2891A=) c.2641A= (p.Ile881=) c.658A= (p.Ile220=) c.717A= c.1849A= (p.Ile617=) c.2977A= (p.Ile993=) c.3157A= (p.Ile1053=) c.2824A= (p.Ile942=) | |
7 | g.117610597A>C | CA368990696 | CFTR | c.3067A>C (p.Ile1023Leu) c.*2781A>C (n.*2781A>C) c.2884A>C (p.Ile962Leu) c.*1367A>C (n.*1367A>C) c.*2891A>C (n.*2891A>C) c.2641A>C (p.Ile881Leu) c.658A>C (p.Ile220Leu) c.717A>C c.1849A>C (p.Ile617Leu) c.2977A>C (p.Ile993Leu) c.3157A>C (p.Ile1053Leu) c.2824A>C (p.Ile942Leu) | |
7 | g.117610597A>G | CA368990698 | CFTR | c.3067A>G (p.Ile1023Val) c.*2781A>G (n.*2781A>G) c.2884A>G (p.Ile962Val) c.*1367A>G (n.*1367A>G) c.*2891A>G (n.*2891A>G) c.2641A>G (p.Ile881Val) c.658A>G (p.Ile220Val) c.717A>G c.1849A>G (p.Ile617Val) c.2977A>G (p.Ile993Val) c.3157A>G (p.Ile1053Val) c.2824A>G (p.Ile942Val) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117610597A>T | CA368990701 | CFTR | c.3067A>T (p.Ile1023Leu) c.*2781A>T (n.*2781A>T) c.2884A>T (p.Ile962Leu) c.*1367A>T (n.*1367A>T) c.*2891A>T (n.*2891A>T) c.2641A>T (p.Ile881Leu) c.658A>T (p.Ile220Leu) c.717A>T c.1849A>T (p.Ile617Leu) c.2977A>T (p.Ile993Leu) c.3157A>T (p.Ile1053Leu) c.2824A>T (p.Ile942Leu) | |
7 | g.117610597_117610602delinsATAGTG | CA1737384981 | CFTR | c.3067_3072delinsATAGTG (p.Ile1023=) c.*2781_*2786delinsATAGTG (n.*2781_*2786delinsATAGTG) c.2884_2889delinsATAGTG (p.Ile962=) c.*1367_*1372delinsATAGTG (n.*1367_*1372delinsATAGTG) c.*2891_*2896delinsATAGTG (n.*2891_*2896delinsATAGTG) c.2641_2646delinsATAGTG (p.Ile881=) c.658_663delinsATAGTG (p.Ile220=) c.717_722delinsATAGTG c.1849_1854delinsATAGTG (p.Ile617=) c.2977_2982delinsATAGTG (p.Ile993=) c.3157_3162delinsATAGTG (p.Ile1053=) c.2824_2829delinsATAGTG (p.Ile942=) | |
7 | g.117610597_117610602delinsCACTAT | CA164965248 | CFTR | c.3067_3072delinsCACTAT (p.Ile1023_Val1024delinsHisTyr) c.*2781_*2786delinsCACTAT (n.*2781_*2786delinsCACTAT) c.2884_2889delinsCACTAT (p.Ile962_Val963delinsHisTyr) c.*1367_*1372delinsCACTAT (n.*1367_*1372delinsCACTAT) c.*2891_*2896delinsCACTAT (n.*2891_*2896delinsCACTAT) c.2641_2646delinsCACTAT (p.Ile881_Val882delinsHisTyr) c.658_663delinsCACTAT (p.Ile220_Val221delinsHisTyr) c.717_722delinsCACTAT c.1849_1854delinsCACTAT (p.Ile617_Val618delinsHisTyr) c.2977_2982delinsCACTAT (p.Ile993_Val994delinsHisTyr) c.3157_3162delinsCACTAT (p.Ile1053_Val1054delinsHisTyr) c.2824_2829delinsCACTAT (p.Ile942_Val943delinsHisTyr) | |
7 | g.117610598T>A | CA368990706 | CFTR | c.3068T>A (p.Ile1023Lys) c.*2782T>A (n.*2782T>A) c.2885T>A (p.Ile962Lys) c.*1368T>A (n.*1368T>A) c.*2892T>A (n.*2892T>A) c.2642T>A (p.Ile881Lys) c.659T>A (p.Ile220Lys) c.718T>A c.1850T>A (p.Ile617Lys) c.2978T>A (p.Ile993Lys) c.3158T>A (p.Ile1053Lys) c.2825T>A (p.Ile942Lys) | |
7 | g.117610598T>C | CA164965281 | CFTR | c.3068T>C (p.Ile1023Thr) c.*2782T>C (n.*2782T>C) c.2885T>C (p.Ile962Thr) c.*1368T>C (n.*1368T>C) c.*2892T>C (n.*2892T>C) c.2642T>C (p.Ile881Thr) c.659T>C (p.Ile220Thr) c.718T>C c.1850T>C (p.Ile617Thr) c.2978T>C (p.Ile993Thr) c.3158T>C (p.Ile1053Thr) c.2825T>C (p.Ile942Thr) | dbSNP |
7 | g.117610598T>G | CA4451372 | CFTR | c.3068T>G (p.Ile1023Arg) c.*2782T>G (n.*2782T>G) c.2885T>G (p.Ile962Arg) c.*1368T>G (n.*1368T>G) c.*2892T>G (n.*2892T>G) c.2642T>G (p.Ile881Arg) c.659T>G (p.Ile220Arg) c.718T>G c.1850T>G (p.Ile617Arg) c.2978T>G (p.Ile993Arg) c.3158T>G (p.Ile1053Arg) c.2825T>G (p.Ile942Arg) | ClinVar dbSNP ExAC gnomAD v2 |
7 | g.117610598T= | CA1737384997 | CFTR | c.3068T= (p.Ile1023=) c.*2782T= (n.*2782T=) c.2885T= (p.Ile962=) c.*1368T= (n.*1368T=) c.*2892T= (n.*2892T=) c.2642T= (p.Ile881=) c.659T= (p.Ile220=) c.718T= c.1850T= (p.Ile617=) c.2978T= (p.Ile993=) c.3158T= (p.Ile1053=) c.2825T= (p.Ile942=) | |
7 | g.117610598_117610602del | CA327037 | CFTR | c.3068_3072del (p.Ile1023SerfsTer22) c.*2782_*2786del (n.*2782_*2786del) c.2885_2889del (p.Ile962SerfsTer22) c.*1368_*1372del (n.*1368_*1372del) c.*2892_*2896del (n.*2892_*2896del) c.2642_2646del (p.Ile881SerfsTer22) c.659_663del (p.Ile220SerfsTer22) c.718_722del c.1850_1854del (p.Ile617SerfsTer22) c.2978_2982del (p.Ile993SerfsTer22) c.3158_3162del (p.Ile1053SerfsTer22) c.2825_2829del (p.Ile942SerfsTer22) | ClinVar dbSNP |
7 | g.117610599A= | CA1737385002 | CFTR | c.3069A= (p.Ile1023=) c.*2783A= (n.*2783A=) c.2886A= (p.Ile962=) c.*1369A= (n.*1369A=) c.*2893A= (n.*2893A=) c.2643A= (p.Ile881=) c.660A= (p.Ile220=) c.719A= c.1851A= (p.Ile617=) c.2979A= (p.Ile993=) c.3159A= (p.Ile1053=) c.2826A= (p.Ile942=) | |
7 | g.117610599A>C | CA457229416 | CFTR | c.3069A>C (p.Ile1023=) c.*2783A>C (n.*2783A>C) c.2886A>C (p.Ile962=) c.*1369A>C (n.*1369A>C) c.*2893A>C (n.*2893A>C) c.2643A>C (p.Ile881=) c.660A>C (p.Ile220=) c.719A>C c.1851A>C (p.Ile617=) c.2979A>C (p.Ile993=) c.3159A>C (p.Ile1053=) c.2826A>C (p.Ile942=) | |
7 | g.117610599A>G | CA368990710 | CFTR | c.3069A>G (p.Ile1023Met) c.*2783A>G (n.*2783A>G) c.2886A>G (p.Ile962Met) c.*1369A>G (n.*1369A>G) c.*2893A>G (n.*2893A>G) c.2643A>G (p.Ile881Met) c.660A>G (p.Ile220Met) c.719A>G c.1851A>G (p.Ile617Met) c.2979A>G (p.Ile993Met) c.3159A>G (p.Ile1053Met) c.2826A>G (p.Ile942Met) | dbSNP |
7 | g.117610599A>T | CA457229417 | CFTR | c.3069A>T (p.Ile1023=) c.*2783A>T (n.*2783A>T) c.2886A>T (p.Ile962=) c.*1369A>T (n.*1369A>T) c.*2893A>T (n.*2893A>T) c.2643A>T (p.Ile881=) c.660A>T (p.Ile220=) c.719A>T c.1851A>T (p.Ile617=) c.2979A>T (p.Ile993=) c.3159A>T (p.Ile1053=) c.2826A>T (p.Ile942=) | |
7 | g.117610600G>A | CA368990714 | CFTR | c.3070G>A (p.Val1024Met) c.*2784G>A (n.*2784G>A) c.2887G>A (p.Val963Met) c.*1370G>A (n.*1370G>A) c.*2894G>A (n.*2894G>A) c.2644G>A (p.Val882Met) c.661G>A (p.Val221Met) c.720G>A c.1852G>A (p.Val618Met) c.2980G>A (p.Val994Met) c.3160G>A (p.Val1054Met) c.2827G>A (p.Val943Met) | ClinVar COSMIC |
7 | g.117610600G>C | CA368990716 | CFTR | c.3070G>C (p.Val1024Leu) c.*2784G>C (n.*2784G>C) c.2887G>C (p.Val963Leu) c.*1370G>C (n.*1370G>C) c.*2894G>C (n.*2894G>C) c.2644G>C (p.Val882Leu) c.661G>C (p.Val221Leu) c.720G>C c.1852G>C (p.Val618Leu) c.2980G>C (p.Val994Leu) c.3160G>C (p.Val1054Leu) c.2827G>C (p.Val943Leu) | |
7 | g.117610600G>T | CA368990718 | CFTR | c.3070G>T (p.Val1024Leu) c.*2784G>T (n.*2784G>T) c.2887G>T (p.Val963Leu) c.*1370G>T (n.*1370G>T) c.*2894G>T (n.*2894G>T) c.2644G>T (p.Val882Leu) c.661G>T (p.Val221Leu) c.720G>T c.1852G>T (p.Val618Leu) c.2980G>T (p.Val994Leu) c.3160G>T (p.Val1054Leu) c.2827G>T (p.Val943Leu) | |
7 | g.117610601T>A | CA368990721 | CFTR | c.3071T>A (p.Val1024Glu) c.*2785T>A (n.*2785T>A) c.2888T>A (p.Val963Glu) c.*1371T>A (n.*1371T>A) c.*2895T>A (n.*2895T>A) c.2645T>A (p.Val882Glu) c.662T>A (p.Val221Glu) c.721T>A c.1853T>A (p.Val618Glu) c.2981T>A (p.Val994Glu) c.3161T>A (p.Val1054Glu) c.2828T>A (p.Val943Glu) | ClinVar |
7 | g.117610601T>C | CA368990722 | CFTR | c.3071T>C (p.Val1024Ala) c.*2785T>C (n.*2785T>C) c.2888T>C (p.Val963Ala) c.*1371T>C (n.*1371T>C) c.*2895T>C (n.*2895T>C) c.2645T>C (p.Val882Ala) c.662T>C (p.Val221Ala) c.721T>C c.1853T>C (p.Val618Ala) c.2981T>C (p.Val994Ala) c.3161T>C (p.Val1054Ala) c.2828T>C (p.Val943Ala) | |
7 | g.117610601T>G | CA368990723 | CFTR | c.3071T>G (p.Val1024Gly) c.*2785T>G (n.*2785T>G) c.2888T>G (p.Val963Gly) c.*1371T>G (n.*1371T>G) c.*2895T>G (n.*2895T>G) c.2645T>G (p.Val882Gly) c.662T>G (p.Val221Gly) c.721T>G c.1853T>G (p.Val618Gly) c.2981T>G (p.Val994Gly) c.3161T>G (p.Val1054Gly) c.2828T>G (p.Val943Gly) | |
7 | g.117610602G>A | CA457229418 | CFTR | c.3072G>A (p.Val1024=) c.*2786G>A (n.*2786G>A) c.2889G>A (p.Val963=) c.*1372G>A (n.*1372G>A) c.*2896G>A (n.*2896G>A) c.2646G>A (p.Val882=) c.663G>A (p.Val221=) c.722G>A c.1854G>A (p.Val618=) c.2982G>A (p.Val994=) c.3162G>A (p.Val1054=) c.2829G>A (p.Val943=) | |
7 | g.117610602G>C | CA457229419 | CFTR | c.3072G>C (p.Val1024=) c.*2786G>C (n.*2786G>C) c.2889G>C (p.Val963=) c.*1372G>C (n.*1372G>C) c.*2896G>C (n.*2896G>C) c.2646G>C (p.Val882=) c.663G>C (p.Val221=) c.722G>C c.1854G>C (p.Val618=) c.2982G>C (p.Val994=) c.3162G>C (p.Val1054=) c.2829G>C (p.Val943=) | |
7 | g.117610602G>T | CA457229420 | CFTR | c.3072G>T (p.Val1024=) c.*2786G>T (n.*2786G>T) c.2889G>T (p.Val963=) c.*1372G>T (n.*1372G>T) c.*2896G>T (n.*2896G>T) c.2646G>T (p.Val882=) c.663G>T (p.Val221=) c.722G>T c.1854G>T (p.Val618=) c.2982G>T (p.Val994=) c.3162G>T (p.Val1054=) c.2829G>T (p.Val943=) | |
7 | g.117610603G>A | CA368990724 | CFTR | c.3073G>A (p.Ala1025Thr) c.*2787G>A (n.*2787G>A) c.2890G>A (p.Ala964Thr) c.*1373G>A (n.*1373G>A) c.*2897G>A (n.*2897G>A) c.2647G>A (p.Ala883Thr) c.664G>A (p.Ala222Thr) c.723G>A c.1855G>A (p.Ala619Thr) c.2983G>A (p.Ala995Thr) c.3163G>A (p.Ala1055Thr) c.2830G>A (p.Ala944Thr) | |
7 | g.117610603G>C | CA368990725 | CFTR | c.3073G>C (p.Ala1025Pro) c.*2787G>C (n.*2787G>C) c.2890G>C (p.Ala964Pro) c.*1373G>C (n.*1373G>C) c.*2897G>C (n.*2897G>C) c.2647G>C (p.Ala883Pro) c.664G>C (p.Ala222Pro) c.723G>C c.1855G>C (p.Ala619Pro) c.2983G>C (p.Ala995Pro) c.3163G>C (p.Ala1055Pro) c.2830G>C (p.Ala944Pro) | |
7 | g.117610603G= | CA1737385006 | CFTR | c.3073G= (p.Ala1025=) c.*2787G= (n.*2787G=) c.2890G= (p.Ala964=) c.*1373G= (n.*1373G=) c.*2897G= (n.*2897G=) c.2647G= (p.Ala883=) c.664G= (p.Ala222=) c.723G= c.1855G= (p.Ala619=) c.2983G= (p.Ala995=) c.3163G= (p.Ala1055=) c.2830G= (p.Ala944=) | |
7 | g.117610603G>T | CA368990726 | CFTR | c.3073G>T (p.Ala1025Ser) c.*2787G>T (n.*2787G>T) c.2890G>T (p.Ala964Ser) c.*1373G>T (n.*1373G>T) c.*2897G>T (n.*2897G>T) c.2647G>T (p.Ala883Ser) c.664G>T (p.Ala222Ser) c.723G>T c.1855G>T (p.Ala619Ser) c.2983G>T (p.Ala995Ser) c.3163G>T (p.Ala1055Ser) c.2830G>T (p.Ala944Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117610604C>A | CA368990727 | CFTR | c.3074C>A (p.Ala1025Asp) c.*2788C>A (n.*2788C>A) c.2891C>A (p.Ala964Asp) c.*1374C>A (n.*1374C>A) c.*2898C>A (n.*2898C>A) c.2648C>A (p.Ala883Asp) c.665C>A (p.Ala222Asp) c.724C>A c.1856C>A (p.Ala619Asp) c.2984C>A (p.Ala995Asp) c.3164C>A (p.Ala1055Asp) c.2831C>A (p.Ala944Asp) | |
7 | g.117610604C= | CA1737385010 | CFTR | c.3074C= (p.Ala1025=) c.*2788C= (n.*2788C=) c.2891C= (p.Ala964=) c.*1374C= (n.*1374C=) c.*2898C= (n.*2898C=) c.2648C= (p.Ala883=) c.665C= (p.Ala222=) c.724C= c.1856C= (p.Ala619=) c.2984C= (p.Ala995=) c.3164C= (p.Ala1055=) c.2831C= (p.Ala944=) | |
7 | g.117610604C>G | CA368990728 | CFTR | c.3074C>G (p.Ala1025Gly) c.*2788C>G (n.*2788C>G) c.2891C>G (p.Ala964Gly) c.*1374C>G (n.*1374C>G) c.*2898C>G (n.*2898C>G) c.2648C>G (p.Ala883Gly) c.665C>G (p.Ala222Gly) c.724C>G c.1856C>G (p.Ala619Gly) c.2984C>G (p.Ala995Gly) c.3164C>G (p.Ala1055Gly) c.2831C>G (p.Ala944Gly) | |
7 | g.117610604C>T | CA4451373 | CFTR | c.3074C>T (p.Ala1025Val) c.*2788C>T (n.*2788C>T) c.2891C>T (p.Ala964Val) c.*1374C>T (n.*1374C>T) c.*2898C>T (n.*2898C>T) c.2648C>T (p.Ala883Val) c.665C>T (p.Ala222Val) c.724C>T c.1856C>T (p.Ala619Val) c.2984C>T (p.Ala995Val) c.3164C>T (p.Ala1055Val) c.2831C>T (p.Ala944Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117610605T>A | CA457229423 | CFTR | c.3075T>A (p.Ala1025=) c.*2789T>A (n.*2789T>A) c.2892T>A (p.Ala964=) c.*1375T>A (n.*1375T>A) c.*2899T>A (n.*2899T>A) c.2649T>A (p.Ala883=) c.666T>A (p.Ala222=) c.725T>A c.1857T>A (p.Ala619=) c.2985T>A (p.Ala995=) c.3165T>A (p.Ala1055=) c.2832T>A (p.Ala944=) | |
7 | g.117610605T>C | CA457229422 | CFTR | c.3075T>C (p.Ala1025=) c.*2789T>C (n.*2789T>C) c.2892T>C (p.Ala964=) c.*1375T>C (n.*1375T>C) c.*2899T>C (n.*2899T>C) c.2649T>C (p.Ala883=) c.666T>C (p.Ala222=) c.725T>C c.1857T>C (p.Ala619=) c.2985T>C (p.Ala995=) c.3165T>C (p.Ala1055=) c.2832T>C (p.Ala944=) | |
7 | g.117610605T>G | CA457229421 | CFTR | c.3075T>G (p.Ala1025=) c.*2789T>G (n.*2789T>G) c.2892T>G (p.Ala964=) c.*1375T>G (n.*1375T>G) c.*2899T>G (n.*2899T>G) c.2649T>G (p.Ala883=) c.666T>G (p.Ala222=) c.725T>G c.1857T>G (p.Ala619=) c.2985T>G (p.Ala995=) c.3165T>G (p.Ala1055=) c.2832T>G (p.Ala944=) | ClinVar dbSNP |
7 | g.117610608del | CA2695199627 | CFTR | c.3078del (p.Phe1026LeufsTer4) c.*2792del (n.*2792del) c.2895del (p.Phe965LeufsTer4) c.*1378del (n.*1378del) c.*2902del (n.*2902del) c.2652del (p.Phe884LeufsTer4) c.669del (p.Phe223LeufsTer4) c.728del c.1860del (p.Phe620LeufsTer4) c.2988del (p.Phe996LeufsTer4) c.3168del (p.Phe1056LeufsTer4) c.2835del (p.Phe945LeufsTer4) | ClinVar |
7 | g.117610606T>A | CA368990730 | CFTR | c.3076T>A (p.Phe1026Ile) c.*2790T>A (n.*2790T>A) c.2893T>A (p.Phe965Ile) c.*1376T>A (n.*1376T>A) c.*2900T>A (n.*2900T>A) c.2650T>A (p.Phe884Ile) c.667T>A (p.Phe223Ile) c.726T>A c.1858T>A (p.Phe620Ile) c.2986T>A (p.Phe996Ile) c.3166T>A (p.Phe1056Ile) c.2833T>A (p.Phe945Ile) | |
7 | g.117610606T>C | CA368990731 | CFTR | c.3076T>C (p.Phe1026Leu) c.*2790T>C (n.*2790T>C) c.2893T>C (p.Phe965Leu) c.*1376T>C (n.*1376T>C) c.*2900T>C (n.*2900T>C) c.2650T>C (p.Phe884Leu) c.667T>C (p.Phe223Leu) c.726T>C c.1858T>C (p.Phe620Leu) c.2986T>C (p.Phe996Leu) c.3166T>C (p.Phe1056Leu) c.2833T>C (p.Phe945Leu) | |
7 | g.117610606T>G | CA368990729 | CFTR | c.3076T>G (p.Phe1026Val) c.*2790T>G (n.*2790T>G) c.2893T>G (p.Phe965Val) c.*1376T>G (n.*1376T>G) c.*2900T>G (n.*2900T>G) c.2650T>G (p.Phe884Val) c.667T>G (p.Phe223Val) c.726T>G c.1858T>G (p.Phe620Val) c.2986T>G (p.Phe996Val) c.3166T>G (p.Phe1056Val) c.2833T>G (p.Phe945Val) | ClinVar |
7 | g.117610607T>A | CA368990732 | CFTR | c.3077T>A (p.Phe1026Tyr) c.*2791T>A (n.*2791T>A) c.2894T>A (p.Phe965Tyr) c.*1377T>A (n.*1377T>A) c.*2901T>A (n.*2901T>A) c.2651T>A (p.Phe884Tyr) c.668T>A (p.Phe223Tyr) c.727T>A c.1859T>A (p.Phe620Tyr) c.2987T>A (p.Phe996Tyr) c.3167T>A (p.Phe1056Tyr) c.2834T>A (p.Phe945Tyr) | |
7 | g.117610607T>C | CA368990733 | CFTR | c.3077T>C (p.Phe1026Ser) c.*2791T>C (n.*2791T>C) c.2894T>C (p.Phe965Ser) c.*1377T>C (n.*1377T>C) c.*2901T>C (n.*2901T>C) c.2651T>C (p.Phe884Ser) c.668T>C (p.Phe223Ser) c.727T>C c.1859T>C (p.Phe620Ser) c.2987T>C (p.Phe996Ser) c.3167T>C (p.Phe1056Ser) c.2834T>C (p.Phe945Ser) | |
7 | g.117610607T>G | CA368990734 | CFTR | c.3077T>G (p.Phe1026Cys) c.*2791T>G (n.*2791T>G) c.2894T>G (p.Phe965Cys) c.*1377T>G (n.*1377T>G) c.*2901T>G (n.*2901T>G) c.2651T>G (p.Phe884Cys) c.668T>G (p.Phe223Cys) c.727T>G c.1859T>G (p.Phe620Cys) c.2987T>G (p.Phe996Cys) c.3167T>G (p.Phe1056Cys) c.2834T>G (p.Phe945Cys) | |
7 | g.117610608T>A | CA368990735 | CFTR | c.3078T>A (p.Phe1026Leu) c.*2792T>A (n.*2792T>A) c.2895T>A (p.Phe965Leu) c.*1378T>A (n.*1378T>A) c.*2902T>A (n.*2902T>A) c.2652T>A (p.Phe884Leu) c.669T>A (p.Phe223Leu) c.728T>A c.1860T>A (p.Phe620Leu) c.2988T>A (p.Phe996Leu) c.3168T>A (p.Phe1056Leu) c.2835T>A (p.Phe945Leu) | |
7 | g.117610608T>C | CA457229424 | CFTR | c.3078T>C (p.Phe1026=) c.*2792T>C (n.*2792T>C) c.2895T>C (p.Phe965=) c.*1378T>C (n.*1378T>C) c.*2902T>C (n.*2902T>C) c.2652T>C (p.Phe884=) c.669T>C (p.Phe223=) c.728T>C c.1860T>C (p.Phe620=) c.2988T>C (p.Phe996=) c.3168T>C (p.Phe1056=) c.2835T>C (p.Phe945=) | |
7 | g.117610608T>G | CA368990736 | CFTR | c.3078T>G (p.Phe1026Leu) c.*2792T>G (n.*2792T>G) c.2895T>G (p.Phe965Leu) c.*1378T>G (n.*1378T>G) c.*2902T>G (n.*2902T>G) c.2652T>G (p.Phe884Leu) c.669T>G (p.Phe223Leu) c.728T>G c.1860T>G (p.Phe620Leu) c.2988T>G (p.Phe996Leu) c.3168T>G (p.Phe1056Leu) c.2835T>G (p.Phe945Leu) | |
7 | g.117610609A= | CA1737385013 | CFTR | c.3079A= (p.Ile1027=) c.*2793A= (n.*2793A=) c.2896A= (p.Ile966=) c.*1379A= (n.*1379A=) c.*2903A= (n.*2903A=) c.2653A= (p.Ile885=) c.670A= (p.Ile224=) c.729A= c.1861A= (p.Ile621=) c.2989A= (p.Ile997=) c.3169A= (p.Ile1057=) c.2836A= (p.Ile946=) | |
7 | g.117610609A>C | CA368990738 | CFTR | c.3079A>C (p.Ile1027Leu) c.*2793A>C (n.*2793A>C) c.2896A>C (p.Ile966Leu) c.*1379A>C (n.*1379A>C) c.*2903A>C (n.*2903A>C) c.2653A>C (p.Ile885Leu) c.670A>C (p.Ile224Leu) c.729A>C c.1861A>C (p.Ile621Leu) c.2989A>C (p.Ile997Leu) c.3169A>C (p.Ile1057Leu) c.2836A>C (p.Ile946Leu) | |
7 | g.117610609A>G | CA368990737 | CFTR | c.3079A>G (p.Ile1027Val) c.*2793A>G (n.*2793A>G) c.2896A>G (p.Ile966Val) c.*1379A>G (n.*1379A>G) c.*2903A>G (n.*2903A>G) c.2653A>G (p.Ile885Val) c.670A>G (p.Ile224Val) c.729A>G c.1861A>G (p.Ile621Val) c.2989A>G (p.Ile997Val) c.3169A>G (p.Ile1057Val) c.2836A>G (p.Ile946Val) | |
7 | g.117610609A>T | CA164965295 | CFTR | c.3079A>T (p.Ile1027Phe) c.*2793A>T (n.*2793A>T) c.2896A>T (p.Ile966Phe) c.*1379A>T (n.*1379A>T) c.*2903A>T (n.*2903A>T) c.2653A>T (p.Ile885Phe) c.670A>T (p.Ile224Phe) c.729A>T c.1861A>T (p.Ile621Phe) c.2989A>T (p.Ile997Phe) c.3169A>T (p.Ile1057Phe) c.2836A>T (p.Ile946Phe) | dbSNP |
7 | g.117610610T>A | CA368990739 | CFTR | c.3080T>A (p.Ile1027Asn) c.*2794T>A (n.*2794T>A) c.2897T>A (p.Ile966Asn) c.*1380T>A (n.*1380T>A) c.*2904T>A (n.*2904T>A) c.2654T>A (p.Ile885Asn) c.671T>A (p.Ile224Asn) c.730T>A c.1862T>A (p.Ile621Asn) c.2990T>A (p.Ile997Asn) c.3170T>A (p.Ile1057Asn) c.2837T>A (p.Ile946Asn) | |
7 | g.117610610T>C | CA146697 | CFTR | c.3080T>C (p.Ile1027Thr) c.*2794T>C (n.*2794T>C) c.2897T>C (p.Ile966Thr) c.*1380T>C (n.*1380T>C) c.*2904T>C (n.*2904T>C) c.2654T>C (p.Ile885Thr) c.671T>C (p.Ile224Thr) c.730T>C c.1862T>C (p.Ile621Thr) c.2990T>C (p.Ile997Thr) c.3170T>C (p.Ile1057Thr) c.2837T>C (p.Ile946Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117610610T>G | CA368990740 | CFTR | c.3080T>G (p.Ile1027Ser) c.*2794T>G (n.*2794T>G) c.2897T>G (p.Ile966Ser) c.*1380T>G (n.*1380T>G) c.*2904T>G (n.*2904T>G) c.2654T>G (p.Ile885Ser) c.671T>G (p.Ile224Ser) c.730T>G c.1862T>G (p.Ile621Ser) c.2990T>G (p.Ile997Ser) c.3170T>G (p.Ile1057Ser) c.2837T>G (p.Ile946Ser) | |
7 | g.117610610T= | CA1737385021 | CFTR | c.3080T= (p.Ile1027=) c.*2794T= (n.*2794T=) c.2897T= (p.Ile966=) c.*1380T= (n.*1380T=) c.*2904T= (n.*2904T=) c.2654T= (p.Ile885=) c.671T= (p.Ile224=) c.730T= c.1862T= (p.Ile621=) c.2990T= (p.Ile997=) c.3170T= (p.Ile1057=) c.2837T= (p.Ile946=) | |
7 | g.117610611T>A | CA4451374 | CFTR | c.3081T>A (p.Ile1027=) c.*2795T>A (n.*2795T>A) c.2898T>A (p.Ile966=) c.*1381T>A (n.*1381T>A) c.*2905T>A (n.*2905T>A) c.2655T>A (p.Ile885=) c.672T>A (p.Ile224=) c.731T>A c.1863T>A (p.Ile621=) c.2991T>A (p.Ile997=) c.3171T>A (p.Ile1057=) c.2838T>A (p.Ile946=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117610611T>C | CA457229425 | CFTR | c.3081T>C (p.Ile1027=) c.*2795T>C (n.*2795T>C) c.2898T>C (p.Ile966=) c.*1381T>C (n.*1381T>C) c.*2905T>C (n.*2905T>C) c.2655T>C (p.Ile885=) c.672T>C (p.Ile224=) c.731T>C c.1863T>C (p.Ile621=) c.2991T>C (p.Ile997=) c.3171T>C (p.Ile1057=) c.2838T>C (p.Ile946=) | |
7 | g.117610611T>G | CA368990741 | CFTR | c.3081T>G (p.Ile1027Met) c.*2795T>G (n.*2795T>G) c.2898T>G (p.Ile966Met) c.*1381T>G (n.*1381T>G) c.*2905T>G (n.*2905T>G) c.2655T>G (p.Ile885Met) c.672T>G (p.Ile224Met) c.731T>G c.1863T>G (p.Ile621Met) c.2991T>G (p.Ile997Met) c.3171T>G (p.Ile1057Met) c.2838T>G (p.Ile946Met) | |
7 | g.117610611T= | CA1737385031 | CFTR | c.3081T= (p.Ile1027=) c.*2795T= (n.*2795T=) c.2898T= (p.Ile966=) c.*1381T= (n.*1381T=) c.*2905T= (n.*2905T=) c.2655T= (p.Ile885=) c.672T= (p.Ile224=) c.731T= c.1863T= (p.Ile621=) c.2991T= (p.Ile997=) c.3171T= (p.Ile1057=) c.2838T= (p.Ile946=) | |
7 | g.117610612A= | CA1737385033 | CFTR | c.3082A= (p.Met1028=) c.*2796A= (n.*2796A=) c.2899A= (p.Met967=) c.*1382A= (n.*1382A=) c.*2906A= (n.*2906A=) c.2656A= (p.Met886=) c.673A= (p.Met225=) c.732A= c.1864A= (p.Met622=) c.2992A= (p.Met998=) c.3172A= (p.Met1058=) c.2839A= (p.Met947=) | |
7 | g.117610612A>C | CA368990743 | CFTR | c.3082A>C (p.Met1028Leu) c.*2796A>C (n.*2796A>C) c.2899A>C (p.Met967Leu) c.*1382A>C (n.*1382A>C) c.*2906A>C (n.*2906A>C) c.2656A>C (p.Met886Leu) c.673A>C (p.Met225Leu) c.732A>C c.1864A>C (p.Met622Leu) c.2992A>C (p.Met998Leu) c.3172A>C (p.Met1058Leu) c.2839A>C (p.Met947Leu) | |
7 | g.117610612A>G | CA164965316 | CFTR | c.3082A>G (p.Met1028Val) c.*2796A>G (n.*2796A>G) c.2899A>G (p.Met967Val) c.*1382A>G (n.*1382A>G) c.*2906A>G (n.*2906A>G) c.2656A>G (p.Met886Val) c.673A>G (p.Met225Val) c.732A>G c.1864A>G (p.Met622Val) c.2992A>G (p.Met998Val) c.3172A>G (p.Met1058Val) c.2839A>G (p.Met947Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117610612A>T | CA368990742 | CFTR | c.3082A>T (p.Met1028Leu) c.*2796A>T (n.*2796A>T) c.2899A>T (p.Met967Leu) c.*1382A>T (n.*1382A>T) c.*2906A>T (n.*2906A>T) c.2656A>T (p.Met886Leu) c.673A>T (p.Met225Leu) c.732A>T c.1864A>T (p.Met622Leu) c.2992A>T (p.Met998Leu) c.3172A>T (p.Met1058Leu) c.2839A>T (p.Met947Leu) | |
7 | g.117610613T>A | CA368990744 | CFTR | c.3083T>A (p.Met1028Lys) c.*2797T>A (n.*2797T>A) c.2900T>A (p.Met967Lys) c.*1383T>A (n.*1383T>A) c.*2907T>A (n.*2907T>A) c.2657T>A (p.Met886Lys) c.674T>A (p.Met225Lys) c.733T>A c.1865T>A (p.Met622Lys) c.2993T>A (p.Met998Lys) c.3173T>A (p.Met1058Lys) c.2840T>A (p.Met947Lys) | |
7 | g.117610613T>C | CA368990745 | CFTR | c.3083T>C (p.Met1028Thr) c.*2797T>C (n.*2797T>C) c.2900T>C (p.Met967Thr) c.*1383T>C (n.*1383T>C) c.*2907T>C (n.*2907T>C) c.2657T>C (p.Met886Thr) c.674T>C (p.Met225Thr) c.733T>C c.1865T>C (p.Met622Thr) c.2993T>C (p.Met998Thr) c.3173T>C (p.Met1058Thr) c.2840T>C (p.Met947Thr) | |
7 | g.117610613T>G | CA327038 | CFTR | c.3083T>G (p.Met1028Arg) c.*2797T>G (n.*2797T>G) c.2900T>G (p.Met967Arg) c.*1383T>G (n.*1383T>G) c.*2907T>G (n.*2907T>G) c.2657T>G (p.Met886Arg) c.674T>G (p.Met225Arg) c.733T>G c.1865T>G (p.Met622Arg) c.2993T>G (p.Met998Arg) c.3173T>G (p.Met1058Arg) c.2840T>G (p.Met947Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117610613T= | CA1737385034 | CFTR | c.3083T= (p.Met1028=) c.*2797T= (n.*2797T=) c.2900T= (p.Met967=) c.*1383T= (n.*1383T=) c.*2907T= (n.*2907T=) c.2657T= (p.Met886=) c.674T= (p.Met225=) c.733T= c.1865T= (p.Met622=) c.2993T= (p.Met998=) c.3173T= (p.Met1058=) c.2840T= (p.Met947=) | |
7 | g.117610614G>A | CA368990746 | CFTR | c.3084G>A (p.Met1028Ile) c.*2798G>A (n.*2798G>A) c.2901G>A (p.Met967Ile) c.*1384G>A (n.*1384G>A) c.*2908G>A (n.*2908G>A) c.2658G>A (p.Met886Ile) c.675G>A (p.Met225Ile) c.734G>A c.1866G>A (p.Met622Ile) c.2994G>A (p.Met998Ile) c.3174G>A (p.Met1058Ile) c.2841G>A (p.Met947Ile) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117610614G>C | CA368990747 | CFTR | c.3084G>C (p.Met1028Ile) c.*2798G>C (n.*2798G>C) c.2901G>C (p.Met967Ile) c.*1384G>C (n.*1384G>C) c.*2908G>C (n.*2908G>C) c.2658G>C (p.Met886Ile) c.675G>C (p.Met225Ile) c.734G>C c.1866G>C (p.Met622Ile) c.2994G>C (p.Met998Ile) c.3174G>C (p.Met1058Ile) c.2841G>C (p.Met947Ile) | |
7 | g.117610614G= | CA1737385037 | CFTR | c.3084G= (p.Met1028=) c.*2798G= (n.*2798G=) c.2901G= (p.Met967=) c.*1384G= (n.*1384G=) c.*2908G= (n.*2908G=) c.2658G= (p.Met886=) c.675G= (p.Met225=) c.734G= c.1866G= (p.Met622=) c.2994G= (p.Met998=) c.3174G= (p.Met1058=) c.2841G= (p.Met947=) | |
7 | g.117610614G>T | CA327040 | CFTR | c.3084G>T (p.Met1028Ile) c.*2798G>T (n.*2798G>T) c.2901G>T (p.Met967Ile) c.*1384G>T (n.*1384G>T) c.*2908G>T (n.*2908G>T) c.2658G>T (p.Met886Ile) c.675G>T (p.Met225Ile) c.734G>T c.1866G>T (p.Met622Ile) c.2994G>T (p.Met998Ile) c.3174G>T (p.Met1058Ile) c.2841G>T (p.Met947Ile) | ClinVar dbSNP gnomAD v4 |
7 | g.117610614_117610618delinsATG | CA2695208431 | CFTR | c.3084_3088delinsATG (p.Met1028IlefsTer18) c.*2798_*2802delinsATG (n.*2798_*2802delinsATG) c.2901_2905delinsATG (p.Met967IlefsTer18) c.*1384_*1388delinsATG (n.*1384_*1388delinsATG) c.*2908_*2912delinsATG (n.*2908_*2912delinsATG) c.2658_2662delinsATG (p.Met886IlefsTer18) c.675_679delinsATG (p.Met225IlefsTer18) c.734_738delinsATG c.1866_1870delinsATG (p.Met622IlefsTer18) c.2994_2998delinsATG (p.Met998IlefsTer18) c.3174_3178delinsATG (p.Met1058IlefsTer18) c.2841_2845delinsATG (p.Met947IlefsTer18) | |
7 | g.117610615T>A | CA368990748 | CFTR | c.3085T>A (p.Leu1029Met) c.*2799T>A (n.*2799T>A) c.2902T>A (p.Leu968Met) c.*1385T>A (n.*1385T>A) c.*2909T>A (n.*2909T>A) c.2659T>A (p.Leu887Met) c.676T>A (p.Leu226Met) c.735T>A c.1867T>A (p.Leu623Met) c.2995T>A (p.Leu999Met) c.3175T>A (p.Leu1059Met) c.2842T>A (p.Leu948Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117610615T>C | CA457229426 | CFTR | c.3085T>C (p.Leu1029=) c.*2799T>C (n.*2799T>C) c.2902T>C (p.Leu968=) c.*1385T>C (n.*1385T>C) c.*2909T>C (n.*2909T>C) c.2659T>C (p.Leu887=) c.676T>C (p.Leu226=) c.735T>C c.1867T>C (p.Leu623=) c.2995T>C (p.Leu999=) c.3175T>C (p.Leu1059=) c.2842T>C (p.Leu948=) | gnomAD v4 |
7 | g.117610615T>G | CA368990749 | CFTR | c.3085T>G (p.Leu1029Val) c.*2799T>G (n.*2799T>G) c.2902T>G (p.Leu968Val) c.*1385T>G (n.*1385T>G) c.*2909T>G (n.*2909T>G) c.2659T>G (p.Leu887Val) c.676T>G (p.Leu226Val) c.735T>G c.1867T>G (p.Leu623Val) c.2995T>G (p.Leu999Val) c.3175T>G (p.Leu1059Val) c.2842T>G (p.Leu948Val) | |
7 | g.117610615T= | CA1737385042 | CFTR | c.3085T= (p.Leu1029=) c.*2799T= (n.*2799T=) c.2902T= (p.Leu968=) c.*1385T= (n.*1385T=) c.*2909T= (n.*2909T=) c.2659T= (p.Leu887=) c.676T= (p.Leu226=) c.735T= c.1867T= (p.Leu623=) c.2995T= (p.Leu999=) c.3175T= (p.Leu1059=) c.2842T= (p.Leu948=) | |
7 | g.117610616T>A | CA368990750 | CFTR | c.3086T>A (p.Leu1029Ter) c.*2800T>A (n.*2800T>A) c.2903T>A (p.Leu968Ter) c.*1386T>A (n.*1386T>A) c.*2910T>A (n.*2910T>A) c.2660T>A (p.Leu887Ter) c.677T>A (p.Leu226Ter) c.736T>A c.1868T>A (p.Leu623Ter) c.2996T>A (p.Leu999Ter) c.3176T>A (p.Leu1059Ter) c.2843T>A (p.Leu948Ter) | |
7 | g.117610616T>C | CA368990752 | CFTR | c.3086T>C (p.Leu1029Ser) c.*2800T>C (n.*2800T>C) c.2903T>C (p.Leu968Ser) c.*1386T>C (n.*1386T>C) c.*2910T>C (n.*2910T>C) c.2660T>C (p.Leu887Ser) c.677T>C (p.Leu226Ser) c.736T>C c.1868T>C (p.Leu623Ser) c.2996T>C (p.Leu999Ser) c.3176T>C (p.Leu1059Ser) c.2843T>C (p.Leu948Ser) | gnomAD v4 |
7 | g.117610616T>G | CA368990751 | CFTR | c.3086T>G (p.Leu1029Trp) c.*2800T>G (n.*2800T>G) c.2903T>G (p.Leu968Trp) c.*1386T>G (n.*1386T>G) c.*2910T>G (n.*2910T>G) c.2660T>G (p.Leu887Trp) c.677T>G (p.Leu226Trp) c.736T>G c.1868T>G (p.Leu623Trp) c.2996T>G (p.Leu999Trp) c.3176T>G (p.Leu1059Trp) c.2843T>G (p.Leu948Trp) | |
7 | g.117610617G>A | CA457229427 | CFTR | c.3087G>A (p.Leu1029=) c.*2801G>A (n.*2801G>A) c.2904G>A (p.Leu968=) c.*1387G>A (n.*1387G>A) c.*2911G>A (n.*2911G>A) c.2661G>A (p.Leu887=) c.678G>A (p.Leu226=) c.737G>A c.1869G>A (p.Leu623=) c.2997G>A (p.Leu999=) c.3177G>A (p.Leu1059=) c.2844G>A (p.Leu948=) | |
7 | g.117610617G>C | CA368990753 | CFTR | c.3087G>C (p.Leu1029Phe) c.*2801G>C (n.*2801G>C) c.2904G>C (p.Leu968Phe) c.*1387G>C (n.*1387G>C) c.*2911G>C (n.*2911G>C) c.2661G>C (p.Leu887Phe) c.678G>C (p.Leu226Phe) c.737G>C c.1869G>C (p.Leu623Phe) c.2997G>C (p.Leu999Phe) c.3177G>C (p.Leu1059Phe) c.2844G>C (p.Leu948Phe) | |
7 | g.117610617G>T | CA368990754 | CFTR | c.3087G>T (p.Leu1029Phe) c.*2801G>T (n.*2801G>T) c.2904G>T (p.Leu968Phe) c.*1387G>T (n.*1387G>T) c.*2911G>T (n.*2911G>T) c.2661G>T (p.Leu887Phe) c.678G>T (p.Leu226Phe) c.737G>T c.1869G>T (p.Leu623Phe) c.2997G>T (p.Leu999Phe) c.3177G>T (p.Leu1059Phe) c.2844G>T (p.Leu948Phe) | |
7 | g.117610620_117610621del | CA645541521 | CFTR | c.3090_3091del (p.Arg1030SerfsTer16) c.*2804_*2805del (n.*2804_*2805del) c.2907_2908del (p.Arg969SerfsTer16) c.*1390_*1391del (n.*1390_*1391del) c.*2914_*2915del (n.*2914_*2915del) c.2664_2665del (p.Arg888SerfsTer16) c.681_682del (p.Arg227SerfsTer16) c.740_741del c.1872_1873del (p.Arg624SerfsTer16) c.3000_3001del (p.Arg1000SerfsTer16) c.3180_3181del (p.Arg1060SerfsTer16) c.2847_2848del (p.Arg949SerfsTer16) | COSMIC |
7 | g.117610618A>C | CA457229428 | CFTR | c.3088A>C (p.Arg1030=) c.*2802A>C (n.*2802A>C) c.2905A>C (p.Arg969=) c.*1388A>C (n.*1388A>C) c.*2912A>C (n.*2912A>C) c.2662A>C (p.Arg888=) c.679A>C (p.Arg227=) c.738A>C c.1870A>C (p.Arg624=) c.2998A>C (p.Arg1000=) c.3178A>C (p.Arg1060=) c.2845A>C (p.Arg949=) | |
7 | g.117610618A>G | CA368990755 | CFTR | c.3088A>G (p.Arg1030Gly) c.*2802A>G (n.*2802A>G) c.2905A>G (p.Arg969Gly) c.*1388A>G (n.*1388A>G) c.*2912A>G (n.*2912A>G) c.2662A>G (p.Arg888Gly) c.679A>G (p.Arg227Gly) c.738A>G c.1870A>G (p.Arg624Gly) c.2998A>G (p.Arg1000Gly) c.3178A>G (p.Arg1060Gly) c.2845A>G (p.Arg949Gly) | |
7 | g.117610618A>T | CA368990756 | CFTR | c.3088A>T (p.Arg1030Ter) c.*2802A>T (n.*2802A>T) c.2905A>T (p.Arg969Ter) c.*1388A>T (n.*1388A>T) c.*2912A>T (n.*2912A>T) c.2662A>T (p.Arg888Ter) c.679A>T (p.Arg227Ter) c.738A>T c.1870A>T (p.Arg624Ter) c.2998A>T (p.Arg1000Ter) c.3178A>T (p.Arg1060Ter) c.2845A>T (p.Arg949Ter) | |
7 | g.117610619G>A | CA368990757 | CFTR | c.3089G>A (p.Arg1030Lys) c.*2803G>A (n.*2803G>A) c.2906G>A (p.Arg969Lys) c.*1389G>A (n.*1389G>A) c.*2913G>A (n.*2913G>A) c.2663G>A (p.Arg888Lys) c.680G>A (p.Arg227Lys) c.739G>A c.1871G>A (p.Arg624Lys) c.2999G>A (p.Arg1000Lys) c.3179G>A (p.Arg1060Lys) c.2846G>A (p.Arg949Lys) | |
7 | g.117610619G>C | CA368990759 | CFTR | c.3089G>C (p.Arg1030Thr) c.*2803G>C (n.*2803G>C) c.2906G>C (p.Arg969Thr) c.*1389G>C (n.*1389G>C) c.*2913G>C (n.*2913G>C) c.2663G>C (p.Arg888Thr) c.680G>C (p.Arg227Thr) c.739G>C c.1871G>C (p.Arg624Thr) c.2999G>C (p.Arg1000Thr) c.3179G>C (p.Arg1060Thr) c.2846G>C (p.Arg949Thr) | |
7 | g.117610619G>T | CA368990758 | CFTR | c.3089G>T (p.Arg1030Ile) c.*2803G>T (n.*2803G>T) c.2906G>T (p.Arg969Ile) c.*1389G>T (n.*1389G>T) c.*2913G>T (n.*2913G>T) c.2663G>T (p.Arg888Ile) c.680G>T (p.Arg227Ile) c.739G>T c.1871G>T (p.Arg624Ile) c.2999G>T (p.Arg1000Ile) c.3179G>T (p.Arg1060Ile) c.2846G>T (p.Arg949Ile) | |
7 | g.117610620A>C | CA368990760 | CFTR | c.3090A>C (p.Arg1030Ser) c.*2804A>C (n.*2804A>C) c.2907A>C (p.Arg969Ser) c.*1390A>C (n.*1390A>C) c.*2914A>C (n.*2914A>C) c.2664A>C (p.Arg888Ser) c.681A>C (p.Arg227Ser) c.740A>C c.1872A>C (p.Arg624Ser) c.3000A>C (p.Arg1000Ser) c.3180A>C (p.Arg1060Ser) c.2847A>C (p.Arg949Ser) | |
7 | g.117610620A>G | CA457229429 | CFTR | c.3090A>G (p.Arg1030=) c.*2804A>G (n.*2804A>G) c.2907A>G (p.Arg969=) c.*1390A>G (n.*1390A>G) c.*2914A>G (n.*2914A>G) c.2664A>G (p.Arg888=) c.681A>G (p.Arg227=) c.740A>G c.1872A>G (p.Arg624=) c.3000A>G (p.Arg1000=) c.3180A>G (p.Arg1060=) c.2847A>G (p.Arg949=) | ClinVar gnomAD v4 |
7 | g.117610620A>T | CA368990761 | CFTR | c.3090A>T (p.Arg1030Ser) c.*2804A>T (n.*2804A>T) c.2907A>T (p.Arg969Ser) c.*1390A>T (n.*1390A>T) c.*2914A>T (n.*2914A>T) c.2664A>T (p.Arg888Ser) c.681A>T (p.Arg227Ser) c.740A>T c.1872A>T (p.Arg624Ser) c.3000A>T (p.Arg1000Ser) c.3180A>T (p.Arg1060Ser) c.2847A>T (p.Arg949Ser) | |
7 | g.117610621G>A | CA368990762 | CFTR | c.3091G>A (p.Ala1031Thr) c.*2805G>A (n.*2805G>A) c.2908G>A (p.Ala970Thr) c.*1391G>A (n.*1391G>A) c.*2915G>A (n.*2915G>A) c.2665G>A (p.Ala889Thr) c.682G>A (p.Ala228Thr) c.741G>A c.1873G>A (p.Ala625Thr) c.3001G>A (p.Ala1001Thr) c.3181G>A (p.Ala1061Thr) c.2848G>A (p.Ala950Thr) | |
7 | g.117610621G>C | CA368990763 | CFTR | c.3091G>C (p.Ala1031Pro) c.*2805G>C (n.*2805G>C) c.2908G>C (p.Ala970Pro) c.*1391G>C (n.*1391G>C) c.*2915G>C (n.*2915G>C) c.2665G>C (p.Ala889Pro) c.682G>C (p.Ala228Pro) c.741G>C c.1873G>C (p.Ala625Pro) c.3001G>C (p.Ala1001Pro) c.3181G>C (p.Ala1061Pro) c.2848G>C (p.Ala950Pro) | |
7 | g.117610621G>T | CA368990764 | CFTR | c.3091G>T (p.Ala1031Ser) c.*2805G>T (n.*2805G>T) c.2908G>T (p.Ala970Ser) c.*1391G>T (n.*1391G>T) c.*2915G>T (n.*2915G>T) c.2665G>T (p.Ala889Ser) c.682G>T (p.Ala228Ser) c.741G>T c.1873G>T (p.Ala625Ser) c.3001G>T (p.Ala1001Ser) c.3181G>T (p.Ala1061Ser) c.2848G>T (p.Ala950Ser) | |
7 | g.117610622C>A | CA368990765 | CFTR | c.3092C>A (p.Ala1031Glu) c.*2806C>A (n.*2806C>A) c.2909C>A (p.Ala970Glu) c.*1392C>A (n.*1392C>A) c.*2916C>A (n.*2916C>A) c.2666C>A (p.Ala889Glu) c.683C>A (p.Ala228Glu) c.742C>A c.1874C>A (p.Ala625Glu) c.3002C>A (p.Ala1001Glu) c.3182C>A (p.Ala1061Glu) c.2849C>A (p.Ala950Glu) | |
7 | g.117610622C= | CA1737385048 | CFTR | c.3092C= (p.Ala1031=) c.*2806C= (n.*2806C=) c.2909C= (p.Ala970=) c.*1392C= (n.*1392C=) c.*2916C= (n.*2916C=) c.2666C= (p.Ala889=) c.683C= (p.Ala228=) c.742C= c.1874C= (p.Ala625=) c.3002C= (p.Ala1001=) c.3182C= (p.Ala1061=) c.2849C= (p.Ala950=) | |
7 | g.117610622C>G | CA368990766 | CFTR | c.3092C>G (p.Ala1031Gly) c.*2806C>G (n.*2806C>G) c.2909C>G (p.Ala970Gly) c.*1392C>G (n.*1392C>G) c.*2916C>G (n.*2916C>G) c.2666C>G (p.Ala889Gly) c.683C>G (p.Ala228Gly) c.742C>G c.1874C>G (p.Ala625Gly) c.3002C>G (p.Ala1001Gly) c.3182C>G (p.Ala1061Gly) c.2849C>G (p.Ala950Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117610622C>T | CA4451375 | CFTR | c.3092C>T (p.Ala1031Val) c.*2806C>T (n.*2806C>T) c.2909C>T (p.Ala970Val) c.*1392C>T (n.*1392C>T) c.*2916C>T (n.*2916C>T) c.2666C>T (p.Ala889Val) c.683C>T (p.Ala228Val) c.742C>T c.1874C>T (p.Ala625Val) c.3002C>T (p.Ala1001Val) c.3182C>T (p.Ala1061Val) c.2849C>T (p.Ala950Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
7 | g.117610623A= | CA1737385051 | CFTR | c.3093A= (p.Ala1031=) c.*2807A= (n.*2807A=) c.2910A= (p.Ala970=) c.*1393A= (n.*1393A=) c.*2917A= (n.*2917A=) c.2667A= (p.Ala889=) c.684A= (p.Ala228=) c.743A= c.1875A= (p.Ala625=) c.3003A= (p.Ala1001=) c.3183A= (p.Ala1061=) c.2850A= (p.Ala950=) | |
7 | g.117610623A>C | CA457229430 | CFTR | c.3093A>C (p.Ala1031=) c.*2807A>C (n.*2807A>C) c.2910A>C (p.Ala970=) c.*1393A>C (n.*1393A>C) c.*2917A>C (n.*2917A>C) c.2667A>C (p.Ala889=) c.684A>C (p.Ala228=) c.743A>C c.1875A>C (p.Ala625=) c.3003A>C (p.Ala1001=) c.3183A>C (p.Ala1061=) c.2850A>C (p.Ala950=) | ClinVar gnomAD v4 |
7 | g.117610623A>G | CA4451376 | CFTR | c.3093A>G (p.Ala1031=) c.*2807A>G (n.*2807A>G) c.2910A>G (p.Ala970=) c.*1393A>G (n.*1393A>G) c.*2917A>G (n.*2917A>G) c.2667A>G (p.Ala889=) c.684A>G (p.Ala228=) c.743A>G c.1875A>G (p.Ala625=) c.3003A>G (p.Ala1001=) c.3183A>G (p.Ala1061=) c.2850A>G (p.Ala950=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117610623A>T | CA457229431 | CFTR | c.3093A>T (p.Ala1031=) c.*2807A>T (n.*2807A>T) c.2910A>T (p.Ala970=) c.*1393A>T (n.*1393A>T) c.*2917A>T (n.*2917A>T) c.2667A>T (p.Ala889=) c.684A>T (p.Ala228=) c.743A>T c.1875A>T (p.Ala625=) c.3003A>T (p.Ala1001=) c.3183A>T (p.Ala1061=) c.2850A>T (p.Ala950=) | ClinVar |
7 | g.117610624T>A | CA327041 | CFTR | c.3094T>A (p.Tyr1032Asn) c.*2808T>A (n.*2808T>A) c.2911T>A (p.Tyr971Asn) c.*1394T>A (n.*1394T>A) c.*2918T>A (n.*2918T>A) c.2668T>A (p.Tyr890Asn) c.685T>A (p.Tyr229Asn) c.744T>A c.1876T>A (p.Tyr626Asn) c.3004T>A (p.Tyr1002Asn) c.3184T>A (p.Tyr1062Asn) c.2851T>A (p.Tyr951Asn) | dbSNP |
7 | g.117610624T>C | CA368990767 | CFTR | c.3094T>C (p.Tyr1032His) c.*2808T>C (n.*2808T>C) c.2911T>C (p.Tyr971His) c.*1394T>C (n.*1394T>C) c.*2918T>C (n.*2918T>C) c.2668T>C (p.Tyr890His) c.685T>C (p.Tyr229His) c.744T>C c.1876T>C (p.Tyr626His) c.3004T>C (p.Tyr1002His) c.3184T>C (p.Tyr1062His) c.2851T>C (p.Tyr951His) | |
7 | g.117610624T>G | CA368990768 | CFTR | c.3094T>G (p.Tyr1032Asp) c.*2808T>G (n.*2808T>G) c.2911T>G (p.Tyr971Asp) c.*1394T>G (n.*1394T>G) c.*2918T>G (n.*2918T>G) c.2668T>G (p.Tyr890Asp) c.685T>G (p.Tyr229Asp) c.744T>G c.1876T>G (p.Tyr626Asp) c.3004T>G (p.Tyr1002Asp) c.3184T>G (p.Tyr1062Asp) c.2851T>G (p.Tyr951Asp) | |
7 | g.117610624T= | CA1737385057 | CFTR | c.3094T= (p.Tyr1032=) c.*2808T= (n.*2808T=) c.2911T= (p.Tyr971=) c.*1394T= (n.*1394T=) c.*2918T= (n.*2918T=) c.2668T= (p.Tyr890=) c.685T= (p.Tyr229=) c.744T= c.1876T= (p.Tyr626=) c.3004T= (p.Tyr1002=) c.3184T= (p.Tyr1062=) c.2851T= (p.Tyr951=) | |
7 | g.117610625A= | CA1737385062 | CFTR | c.3095A= (p.Tyr1032=) c.*2809A= (n.*2809A=) c.2912A= (p.Tyr971=) c.*1395A= (n.*1395A=) c.*2919A= (n.*2919A=) c.2669A= (p.Tyr890=) c.686A= (p.Tyr229=) c.745A= c.1877A= (p.Tyr626=) c.3005A= (p.Tyr1002=) c.3185A= (p.Tyr1062=) c.2852A= (p.Tyr951=) | |
7 | g.117610625A>C | CA368990770 | CFTR | c.3095A>C (p.Tyr1032Ser) c.*2809A>C (n.*2809A>C) c.2912A>C (p.Tyr971Ser) c.*1395A>C (n.*1395A>C) c.*2919A>C (n.*2919A>C) c.2669A>C (p.Tyr890Ser) c.686A>C (p.Tyr229Ser) c.745A>C c.1877A>C (p.Tyr626Ser) c.3005A>C (p.Tyr1002Ser) c.3185A>C (p.Tyr1062Ser) c.2852A>C (p.Tyr951Ser) | |
7 | g.117610625A>G | CA325705 | CFTR | c.3095A>G (p.Tyr1032Cys) c.*2809A>G (n.*2809A>G) c.2912A>G (p.Tyr971Cys) c.*1395A>G (n.*1395A>G) c.*2919A>G (n.*2919A>G) c.2669A>G (p.Tyr890Cys) c.686A>G (p.Tyr229Cys) c.745A>G c.1877A>G (p.Tyr626Cys) c.3005A>G (p.Tyr1002Cys) c.3185A>G (p.Tyr1062Cys) c.2852A>G (p.Tyr951Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117610625A>T | CA368990769 | CFTR | c.3095A>T (p.Tyr1032Phe) c.*2809A>T (n.*2809A>T) c.2912A>T (p.Tyr971Phe) c.*1395A>T (n.*1395A>T) c.*2919A>T (n.*2919A>T) c.2669A>T (p.Tyr890Phe) c.686A>T (p.Tyr229Phe) c.745A>T c.1877A>T (p.Tyr626Phe) c.3005A>T (p.Tyr1002Phe) c.3185A>T (p.Tyr1062Phe) c.2852A>T (p.Tyr951Phe) | |
7 | g.117610625_117610626delinsAT | CA1737385067 | CFTR | c.3095_3096delinsAT (p.Tyr1032=) c.*2809_*2810delinsAT (n.*2809_*2810delinsAT) c.2912_2913delinsAT (p.Tyr971=) c.*1395_*1396delinsAT (n.*1395_*1396delinsAT) c.*2919_*2920delinsAT (n.*2919_*2920delinsAT) c.2669_2670delinsAT (p.Tyr890=) c.686_687delinsAT (p.Tyr229=) c.745_746delinsAT c.1877_1878delinsAT (p.Tyr626=) c.3005_3006delinsAT (p.Tyr1002=) c.3185_3186delinsAT (p.Tyr1062=) c.2852_2853delinsAT (p.Tyr951=) | |
7 | g.117610626T>A | CA368990772 | CFTR | c.3096T>A (p.Tyr1032Ter) c.*2810T>A (n.*2810T>A) c.2913T>A (p.Tyr971Ter) c.*1396T>A (n.*1396T>A) c.*2920T>A (n.*2920T>A) c.2670T>A (p.Tyr890Ter) c.687T>A (p.Tyr229Ter) c.746T>A c.1878T>A (p.Tyr626Ter) c.3006T>A (p.Tyr1002Ter) c.3186T>A (p.Tyr1062Ter) c.2853T>A (p.Tyr951Ter) | |
7 | g.117610626T>C | CA457229440 | CFTR | c.3096T>C (p.Tyr1032=) c.*2810T>C (n.*2810T>C) c.2913T>C (p.Tyr971=) c.*1396T>C (n.*1396T>C) c.*2920T>C (n.*2920T>C) c.2670T>C (p.Tyr890=) c.687T>C (p.Tyr229=) c.746T>C c.1878T>C (p.Tyr626=) c.3006T>C (p.Tyr1002=) c.3186T>C (p.Tyr1062=) c.2853T>C (p.Tyr951=) | |
7 | g.117610626T>G | CA368990771 | CFTR | c.3096T>G (p.Tyr1032Ter) c.*2810T>G (n.*2810T>G) c.2913T>G (p.Tyr971Ter) c.*1396T>G (n.*1396T>G) c.*2920T>G (n.*2920T>G) c.2670T>G (p.Tyr890Ter) c.687T>G (p.Tyr229Ter) c.746T>G c.1878T>G (p.Tyr626Ter) c.3006T>G (p.Tyr1002Ter) c.3186T>G (p.Tyr1062Ter) c.2853T>G (p.Tyr951Ter) | |
7 | g.117610628del | CA577680836 | CFTR | c.3098del (p.Phe1033SerfsTer27) c.*2812del (n.*2812del) c.2915del (p.Phe972SerfsTer27) c.*1398del (n.*1398del) c.*2922del (n.*2922del) c.2672del (p.Phe891SerfsTer27) c.689del (p.Phe230SerfsTer27) c.748del c.1880del (p.Phe627SerfsTer27) c.3008del (p.Phe1003SerfsTer27) c.3188del (p.Phe1063SerfsTer27) c.2855del (p.Phe952SerfsTer27) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117610627T>A | CA368990774 | CFTR | c.3097T>A (p.Phe1033Ile) c.*2811T>A (n.*2811T>A) c.2914T>A (p.Phe972Ile) c.*1397T>A (n.*1397T>A) c.*2921T>A (n.*2921T>A) c.2671T>A (p.Phe891Ile) c.688T>A (p.Phe230Ile) c.747T>A c.1879T>A (p.Phe627Ile) c.3007T>A (p.Phe1003Ile) c.3187T>A (p.Phe1063Ile) c.2854T>A (p.Phe952Ile) | |
7 | g.117610627T>C | CA368990773 | CFTR | c.3097T>C (p.Phe1033Leu) c.*2811T>C (n.*2811T>C) c.2914T>C (p.Phe972Leu) c.*1397T>C (n.*1397T>C) c.*2921T>C (n.*2921T>C) c.2671T>C (p.Phe891Leu) c.688T>C (p.Phe230Leu) c.747T>C c.1879T>C (p.Phe627Leu) c.3007T>C (p.Phe1003Leu) c.3187T>C (p.Phe1063Leu) c.2854T>C (p.Phe952Leu) | |
7 | g.117610627T>G | CA368990775 | CFTR | c.3097T>G (p.Phe1033Val) c.*2811T>G (n.*2811T>G) c.2914T>G (p.Phe972Val) c.*1397T>G (n.*1397T>G) c.*2921T>G (n.*2921T>G) c.2671T>G (p.Phe891Val) c.688T>G (p.Phe230Val) c.747T>G c.1879T>G (p.Phe627Val) c.3007T>G (p.Phe1003Val) c.3187T>G (p.Phe1063Val) c.2854T>G (p.Phe952Val) | COSMIC |
7 | g.117610628T>A | CA368990776 | CFTR | c.3098T>A (p.Phe1033Tyr) c.*2812T>A (n.*2812T>A) c.2915T>A (p.Phe972Tyr) c.*1398T>A (n.*1398T>A) c.*2922T>A (n.*2922T>A) c.2672T>A (p.Phe891Tyr) c.689T>A (p.Phe230Tyr) c.748T>A c.1880T>A (p.Phe627Tyr) c.3008T>A (p.Phe1003Tyr) c.3188T>A (p.Phe1063Tyr) c.2855T>A (p.Phe952Tyr) | |
7 | g.117610628T>C | CA368990778 | CFTR | c.3098T>C (p.Phe1033Ser) c.*2812T>C (n.*2812T>C) c.2915T>C (p.Phe972Ser) c.*1398T>C (n.*1398T>C) c.*2922T>C (n.*2922T>C) c.2672T>C (p.Phe891Ser) c.689T>C (p.Phe230Ser) c.748T>C c.1880T>C (p.Phe627Ser) c.3008T>C (p.Phe1003Ser) c.3188T>C (p.Phe1063Ser) c.2855T>C (p.Phe952Ser) | dbSNP |
7 | g.117610628T>G | CA368990777 | CFTR | c.3098T>G (p.Phe1033Cys) c.*2812T>G (n.*2812T>G) c.2915T>G (p.Phe972Cys) c.*1398T>G (n.*1398T>G) c.*2922T>G (n.*2922T>G) c.2672T>G (p.Phe891Cys) c.689T>G (p.Phe230Cys) c.748T>G c.1880T>G (p.Phe627Cys) c.3008T>G (p.Phe1003Cys) c.3188T>G (p.Phe1063Cys) c.2855T>G (p.Phe952Cys) | |
7 | g.117610628T= | CA1737385080 | CFTR | c.3098T= (p.Phe1033=) c.*2812T= (n.*2812T=) c.2915T= (p.Phe972=) c.*1398T= (n.*1398T=) c.*2922T= (n.*2922T=) c.2672T= (p.Phe891=) c.689T= (p.Phe230=) c.748T= c.1880T= (p.Phe627=) c.3008T= (p.Phe1003=) c.3188T= (p.Phe1063=) c.2855T= (p.Phe952=) | |
7 | g.117610629C>A | CA368990779 | CFTR | c.3099C>A (p.Phe1033Leu) c.*2813C>A (n.*2813C>A) c.2916C>A (p.Phe972Leu) c.*1399C>A (n.*1399C>A) c.*2923C>A (n.*2923C>A) c.2673C>A (p.Phe891Leu) c.690C>A (p.Phe230Leu) c.749C>A c.1881C>A (p.Phe627Leu) c.3009C>A (p.Phe1003Leu) c.3189C>A (p.Phe1063Leu) c.2856C>A (p.Phe952Leu) | ClinVar |
7 | g.117610629C>G | CA368990780 | CFTR | c.3099C>G (p.Phe1033Leu) c.*2813C>G (n.*2813C>G) c.2916C>G (p.Phe972Leu) c.*1399C>G (n.*1399C>G) c.*2923C>G (n.*2923C>G) c.2673C>G (p.Phe891Leu) c.690C>G (p.Phe230Leu) c.749C>G c.1881C>G (p.Phe627Leu) c.3009C>G (p.Phe1003Leu) c.3189C>G (p.Phe1063Leu) c.2856C>G (p.Phe952Leu) | |
7 | g.117610629C>T | CA457229451 | CFTR | c.3099C>T (p.Phe1033=) c.*2813C>T (n.*2813C>T) c.2916C>T (p.Phe972=) c.*1399C>T (n.*1399C>T) c.*2923C>T (n.*2923C>T) c.2673C>T (p.Phe891=) c.690C>T (p.Phe230=) c.749C>T c.1881C>T (p.Phe627=) c.3009C>T (p.Phe1003=) c.3189C>T (p.Phe1063=) c.2856C>T (p.Phe952=) | COSMIC |
7 | g.117610630C>A | CA368990781 | CFTR | c.3100C>A (p.Leu1034Ile) c.*2814C>A (n.*2814C>A) c.2917C>A (p.Leu973Ile) c.*1400C>A (n.*1400C>A) c.*2924C>A (n.*2924C>A) c.2674C>A (p.Leu892Ile) c.691C>A (p.Leu231Ile) c.750C>A c.1882C>A (p.Leu628Ile) c.3010C>A (p.Leu1004Ile) c.3190C>A (p.Leu1064Ile) c.2857C>A (p.Leu953Ile) | |
7 | g.117610630C= | CA1737385087 | CFTR | c.3100C= (p.Leu1034=) c.*2814C= (n.*2814C=) c.2917C= (p.Leu973=) c.*1400C= (n.*1400C=) c.*2924C= (n.*2924C=) c.2674C= (p.Leu892=) c.691C= (p.Leu231=) c.750C= c.1882C= (p.Leu628=) c.3010C= (p.Leu1004=) c.3190C= (p.Leu1064=) c.2857C= (p.Leu953=) | |
7 | g.117610630C>G | CA368990782 | CFTR | c.3100C>G (p.Leu1034Val) c.*2814C>G (n.*2814C>G) c.2917C>G (p.Leu973Val) c.*1400C>G (n.*1400C>G) c.*2924C>G (n.*2924C>G) c.2674C>G (p.Leu892Val) c.691C>G (p.Leu231Val) c.750C>G c.1882C>G (p.Leu628Val) c.3010C>G (p.Leu1004Val) c.3190C>G (p.Leu1064Val) c.2857C>G (p.Leu953Val) | |
7 | g.117610630C>T | CA368990783 | CFTR | c.3100C>T (p.Leu1034Phe) c.*2814C>T (n.*2814C>T) c.2917C>T (p.Leu973Phe) c.*1400C>T (n.*1400C>T) c.*2924C>T (n.*2924C>T) c.2674C>T (p.Leu892Phe) c.691C>T (p.Leu231Phe) c.750C>T c.1882C>T (p.Leu628Phe) c.3010C>T (p.Leu1004Phe) c.3190C>T (p.Leu1064Phe) c.2857C>T (p.Leu953Phe) | ClinVar dbSNP gnomAD v4 |
7 | g.117610631T>A | CA368990784 | CFTR | c.3101T>A (p.Leu1034His) c.*2815T>A (n.*2815T>A) c.2918T>A (p.Leu973His) c.*1401T>A (n.*1401T>A) c.*2925T>A (n.*2925T>A) c.2675T>A (p.Leu892His) c.692T>A (p.Leu231His) c.751T>A c.1883T>A (p.Leu628His) c.3011T>A (p.Leu1004His) c.3191T>A (p.Leu1064His) c.2858T>A (p.Leu953His) | |
7 | g.117610631T>C | CA368990785 | CFTR | c.3101T>C (p.Leu1034Pro) c.*2815T>C (n.*2815T>C) c.2918T>C (p.Leu973Pro) c.*1401T>C (n.*1401T>C) c.*2925T>C (n.*2925T>C) c.2675T>C (p.Leu892Pro) c.692T>C (p.Leu231Pro) c.751T>C c.1883T>C (p.Leu628Pro) c.3011T>C (p.Leu1004Pro) c.3191T>C (p.Leu1064Pro) c.2858T>C (p.Leu953Pro) | ClinVar |
7 | g.117610631T>G | CA368990786 | CFTR | c.3101T>G (p.Leu1034Arg) c.*2815T>G (n.*2815T>G) c.2918T>G (p.Leu973Arg) c.*1401T>G (n.*1401T>G) c.*2925T>G (n.*2925T>G) c.2675T>G (p.Leu892Arg) c.692T>G (p.Leu231Arg) c.751T>G c.1883T>G (p.Leu628Arg) c.3011T>G (p.Leu1004Arg) c.3191T>G (p.Leu1064Arg) c.2858T>G (p.Leu953Arg) | ClinVar dbSNP COSMIC |
7 | g.117610631T= | CA1737385099 | CFTR | c.3101T= (p.Leu1034=) c.*2815T= (n.*2815T=) c.2918T= (p.Leu973=) c.*1401T= (n.*1401T=) c.*2925T= (n.*2925T=) c.2675T= (p.Leu892=) c.692T= (p.Leu231=) c.751T= c.1883T= (p.Leu628=) c.3011T= (p.Leu1004=) c.3191T= (p.Leu1064=) c.2858T= (p.Leu953=) | |
7 | g.117610632C>A | CA457229458 | CFTR | c.3102C>A (p.Leu1034=) c.*2816C>A (n.*2816C>A) c.2919C>A (p.Leu973=) c.*1402C>A (n.*1402C>A) c.*2926C>A (n.*2926C>A) c.2676C>A (p.Leu892=) c.693C>A (p.Leu231=) c.752C>A c.1884C>A (p.Leu628=) c.3012C>A (p.Leu1004=) c.3192C>A (p.Leu1064=) c.2859C>A (p.Leu953=) | |
7 | g.117610632C>G | CA457229461 | CFTR | c.3102C>G (p.Leu1034=) c.*2816C>G (n.*2816C>G) c.2919C>G (p.Leu973=) c.*1402C>G (n.*1402C>G) c.*2926C>G (n.*2926C>G) c.2676C>G (p.Leu892=) c.693C>G (p.Leu231=) c.752C>G c.1884C>G (p.Leu628=) c.3012C>G (p.Leu1004=) c.3192C>G (p.Leu1064=) c.2859C>G (p.Leu953=) | |
7 | g.117610632C>T | CA457229462 | CFTR | c.3102C>T (p.Leu1034=) c.*2816C>T (n.*2816C>T) c.2919C>T (p.Leu973=) c.*1402C>T (n.*1402C>T) c.*2926C>T (n.*2926C>T) c.2676C>T (p.Leu892=) c.693C>T (p.Leu231=) c.752C>T c.1884C>T (p.Leu628=) c.3012C>T (p.Leu1004=) c.3192C>T (p.Leu1064=) c.2859C>T (p.Leu953=) | gnomAD v4 |
7 | g.117610633C>A | CA368990787 | CFTR | c.3103C>A (p.Gln1035Lys) c.*2817C>A (n.*2817C>A) c.2920C>A (p.Gln974Lys) c.*1403C>A (n.*1403C>A) c.*2927C>A (n.*2927C>A) c.2677C>A (p.Gln893Lys) c.694C>A (p.Gln232Lys) c.753C>A c.1885C>A (p.Gln629Lys) c.3013C>A (p.Gln1005Lys) c.3193C>A (p.Gln1065Lys) c.2860C>A (p.Gln954Lys) | gnomAD v4 |
7 | g.117610633C= | CA1737385108 | CFTR | c.3103C= (p.Gln1035=) c.*2817C= (n.*2817C=) c.2920C= (p.Gln974=) c.*1403C= (n.*1403C=) c.*2927C= (n.*2927C=) c.2677C= (p.Gln893=) c.694C= (p.Gln232=) c.753C= c.1885C= (p.Gln629=) c.3013C= (p.Gln1005=) c.3193C= (p.Gln1065=) c.2860C= (p.Gln954=) | |
7 | g.117610633C>G | CA368990788 | CFTR | c.3103C>G (p.Gln1035Glu) c.*2817C>G (n.*2817C>G) c.2920C>G (p.Gln974Glu) c.*1403C>G (n.*1403C>G) c.*2927C>G (n.*2927C>G) c.2677C>G (p.Gln893Glu) c.694C>G (p.Gln232Glu) c.753C>G c.1885C>G (p.Gln629Glu) c.3013C>G (p.Gln1005Glu) c.3193C>G (p.Gln1065Glu) c.2860C>G (p.Gln954Glu) | |
7 | g.117610633C>T | CA327043 | CFTR | c.3103C>T (p.Gln1035Ter) c.*2817C>T (n.*2817C>T) c.2920C>T (p.Gln974Ter) c.*1403C>T (n.*1403C>T) c.*2927C>T (n.*2927C>T) c.2677C>T (p.Gln893Ter) c.694C>T (p.Gln232Ter) c.753C>T c.1885C>T (p.Gln629Ter) c.3013C>T (p.Gln1005Ter) c.3193C>T (p.Gln1065Ter) c.2860C>T (p.Gln954Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117610633_117610634delinsCA | CA1737385105 | CFTR | c.3103_3104delinsCA (p.Gln1035=) c.*2817_*2818delinsCA (n.*2817_*2818delinsCA) c.2920_2921delinsCA (p.Gln974=) c.*1403_*1404delinsCA (n.*1403_*1404delinsCA) c.*2927_*2928delinsCA (n.*2927_*2928delinsCA) c.2677_2678delinsCA (p.Gln893=) c.694_695delinsCA (p.Gln232=) c.753_754delinsCA c.1885_1886delinsCA (p.Gln629=) c.3013_3014delinsCA (p.Gln1005=) c.3193_3194delinsCA (p.Gln1065=) c.2860_2861delinsCA (p.Gln954=) | |
7 | g.117610634A>C | CA368990791 | CFTR | c.3104A>C (p.Gln1035Pro) c.*2818A>C (n.*2818A>C) c.2921A>C (p.Gln974Pro) c.*1404A>C (n.*1404A>C) c.*2928A>C (n.*2928A>C) c.2678A>C (p.Gln893Pro) c.695A>C (p.Gln232Pro) c.754A>C c.1886A>C (p.Gln629Pro) c.3014A>C (p.Gln1005Pro) c.3194A>C (p.Gln1065Pro) c.2861A>C (p.Gln954Pro) | |
7 | g.117610634A>G | CA368990789 | CFTR | c.3104A>G (p.Gln1035Arg) c.*2818A>G (n.*2818A>G) c.2921A>G (p.Gln974Arg) c.*1404A>G (n.*1404A>G) c.*2928A>G (n.*2928A>G) c.2678A>G (p.Gln893Arg) c.695A>G (p.Gln232Arg) c.754A>G c.1886A>G (p.Gln629Arg) c.3014A>G (p.Gln1005Arg) c.3194A>G (p.Gln1065Arg) c.2861A>G (p.Gln954Arg) | |
7 | g.117610634A>T | CA368990790 | CFTR | c.3104A>T (p.Gln1035Leu) c.*2818A>T (n.*2818A>T) c.2921A>T (p.Gln974Leu) c.*1404A>T (n.*1404A>T) c.*2928A>T (n.*2928A>T) c.2678A>T (p.Gln893Leu) c.695A>T (p.Gln232Leu) c.754A>T c.1886A>T (p.Gln629Leu) c.3014A>T (p.Gln1005Leu) c.3194A>T (p.Gln1065Leu) c.2861A>T (p.Gln954Leu) | |
7 | g.117610636del | CA327045 | CFTR | c.3106del (p.Thr1036ProfsTer24) c.*2820del (n.*2820del) c.2923del (p.Thr975ProfsTer24) c.*1406del (n.*1406del) c.*2930del (n.*2930del) c.2680del (p.Thr894ProfsTer24) c.697del (p.Thr233ProfsTer24) c.756del c.1888del (p.Thr630ProfsTer24) c.3016del (p.Thr1006ProfsTer24) c.3196del (p.Thr1066ProfsTer24) c.2863del (p.Thr955ProfsTer24) | dbSNP |
7 | g.117610635A>C | CA368990792 | CFTR | c.3105A>C (p.Gln1035His) c.*2819A>C (n.*2819A>C) c.2922A>C (p.Gln974His) c.*1405A>C (n.*1405A>C) c.*2929A>C (n.*2929A>C) c.2679A>C (p.Gln893His) c.696A>C (p.Gln232His) c.755A>C c.1887A>C (p.Gln629His) c.3015A>C (p.Gln1005His) c.3195A>C (p.Gln1065His) c.2862A>C (p.Gln954His) | |
7 | g.117610635A>G | CA457229472 | CFTR | c.3105A>G (p.Gln1035=) c.*2819A>G (n.*2819A>G) c.2922A>G (p.Gln974=) c.*1405A>G (n.*1405A>G) c.*2929A>G (n.*2929A>G) c.2679A>G (p.Gln893=) c.696A>G (p.Gln232=) c.755A>G c.1887A>G (p.Gln629=) c.3015A>G (p.Gln1005=) c.3195A>G (p.Gln1065=) c.2862A>G (p.Gln954=) | |
7 | g.117610635A>T | CA368990793 | CFTR | c.3105A>T (p.Gln1035His) c.*2819A>T (n.*2819A>T) c.2922A>T (p.Gln974His) c.*1405A>T (n.*1405A>T) c.*2929A>T (n.*2929A>T) c.2679A>T (p.Gln893His) c.696A>T (p.Gln232His) c.755A>T c.1887A>T (p.Gln629His) c.3015A>T (p.Gln1005His) c.3195A>T (p.Gln1065His) c.2862A>T (p.Gln954His) | |
7 | g.117610636A>C | CA368990794 | CFTR | c.3106A>C (p.Thr1036Pro) c.*2820A>C (n.*2820A>C) c.2923A>C (p.Thr975Pro) c.*1406A>C (n.*1406A>C) c.*2930A>C (n.*2930A>C) c.2680A>C (p.Thr894Pro) c.697A>C (p.Thr233Pro) c.756A>C c.1888A>C (p.Thr630Pro) c.3016A>C (p.Thr1006Pro) c.3196A>C (p.Thr1066Pro) c.2863A>C (p.Thr955Pro) | |
7 | g.117610636A>G | CA368990795 | CFTR | c.3106A>G (p.Thr1036Ala) c.*2820A>G (n.*2820A>G) c.2923A>G (p.Thr975Ala) c.*1406A>G (n.*1406A>G) c.*2930A>G (n.*2930A>G) c.2680A>G (p.Thr894Ala) c.697A>G (p.Thr233Ala) c.756A>G c.1888A>G (p.Thr630Ala) c.3016A>G (p.Thr1006Ala) c.3196A>G (p.Thr1066Ala) c.2863A>G (p.Thr955Ala) | ClinVar gnomAD v4 |
7 | g.117610636A>T | CA368990796 | CFTR | c.3106A>T (p.Thr1036Ser) c.*2820A>T (n.*2820A>T) c.2923A>T (p.Thr975Ser) c.*1406A>T (n.*1406A>T) c.*2930A>T (n.*2930A>T) c.2680A>T (p.Thr894Ser) c.697A>T (p.Thr233Ser) c.756A>T c.1888A>T (p.Thr630Ser) c.3016A>T (p.Thr1006Ser) c.3196A>T (p.Thr1066Ser) c.2863A>T (p.Thr955Ser) | |
7 | g.117610637C>A | CA327046 | CFTR | c.3107C>A (p.Thr1036Asn) c.*2821C>A (n.*2821C>A) c.2924C>A (p.Thr975Asn) c.*1407C>A (n.*1407C>A) c.*2931C>A (n.*2931C>A) c.2681C>A (p.Thr894Asn) c.698C>A (p.Thr233Asn) c.757C>A c.1889C>A (p.Thr630Asn) c.3017C>A (p.Thr1006Asn) c.3197C>A (p.Thr1066Asn) c.2864C>A (p.Thr955Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117610637C= | CA1737385121 | CFTR | c.3107C= (p.Thr1036=) c.*2821C= (n.*2821C=) c.2924C= (p.Thr975=) c.*1407C= (n.*1407C=) c.*2931C= (n.*2931C=) c.2681C= (p.Thr894=) c.698C= (p.Thr233=) c.757C= c.1889C= (p.Thr630=) c.3017C= (p.Thr1006=) c.3197C= (p.Thr1066=) c.2864C= (p.Thr955=) | |
7 | g.117610637C>G | CA368990797 | CFTR | c.3107C>G (p.Thr1036Ser) c.*2821C>G (n.*2821C>G) c.2924C>G (p.Thr975Ser) c.*1407C>G (n.*1407C>G) c.*2931C>G (n.*2931C>G) c.2681C>G (p.Thr894Ser) c.698C>G (p.Thr233Ser) c.757C>G c.1889C>G (p.Thr630Ser) c.3017C>G (p.Thr1006Ser) c.3197C>G (p.Thr1066Ser) c.2864C>G (p.Thr955Ser) | |
7 | g.117610637C>T | CA368990798 | CFTR | c.3107C>T (p.Thr1036Ile) c.*2821C>T (n.*2821C>T) c.2924C>T (p.Thr975Ile) c.*1407C>T (n.*1407C>T) c.*2931C>T (n.*2931C>T) c.2681C>T (p.Thr894Ile) c.698C>T (p.Thr233Ile) c.757C>T c.1889C>T (p.Thr630Ile) c.3017C>T (p.Thr1006Ile) c.3197C>T (p.Thr1066Ile) c.2864C>T (p.Thr955Ile) | ClinVar dbSNP gnomAD v4 |
7 | g.117610638C>A | CA457229485 | CFTR | c.3108C>A (p.Thr1036=) c.*2822C>A (n.*2822C>A) c.2925C>A (p.Thr975=) c.*1408C>A (n.*1408C>A) c.*2932C>A (n.*2932C>A) c.2682C>A (p.Thr894=) c.699C>A (p.Thr233=) c.758C>A c.1890C>A (p.Thr630=) c.3018C>A (p.Thr1006=) c.3198C>A (p.Thr1066=) c.2865C>A (p.Thr955=) | |
7 | g.117610638C= | CA1737385132 | CFTR | c.3108C= (p.Thr1036=) c.*2822C= (n.*2822C=) c.2925C= (p.Thr975=) c.*1408C= (n.*1408C=) c.*2932C= (n.*2932C=) c.2682C= (p.Thr894=) c.699C= (p.Thr233=) c.758C= c.1890C= (p.Thr630=) c.3018C= (p.Thr1006=) c.3198C= (p.Thr1066=) c.2865C= (p.Thr955=) | |
7 | g.117610638C>G | CA457229482 | CFTR | c.3108C>G (p.Thr1036=) c.*2822C>G (n.*2822C>G) c.2925C>G (p.Thr975=) c.*1408C>G (n.*1408C>G) c.*2932C>G (n.*2932C>G) c.2682C>G (p.Thr894=) c.699C>G (p.Thr233=) c.758C>G c.1890C>G (p.Thr630=) c.3018C>G (p.Thr1006=) c.3198C>G (p.Thr1066=) c.2865C>G (p.Thr955=) | ClinVar dbSNP |
7 | g.117610638C>T | CA4451377 | CFTR | c.3108C>T (p.Thr1036=) c.*2822C>T (n.*2822C>T) c.2925C>T (p.Thr975=) c.*1408C>T (n.*1408C>T) c.*2932C>T (n.*2932C>T) c.2682C>T (p.Thr894=) c.699C>T (p.Thr233=) c.758C>T c.1890C>T (p.Thr630=) c.3018C>T (p.Thr1006=) c.3198C>T (p.Thr1066=) c.2865C>T (p.Thr955=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117610639T>A | CA368990800 | CFTR | c.3109T>A (p.Ser1037Thr) c.*2823T>A (n.*2823T>A) c.2926T>A (p.Ser976Thr) c.*1409T>A (n.*1409T>A) c.*2933T>A (n.*2933T>A) c.2683T>A (p.Ser895Thr) c.700T>A (p.Ser234Thr) c.759T>A c.1891T>A (p.Ser631Thr) c.3019T>A (p.Ser1007Thr) c.3199T>A (p.Ser1067Thr) c.2866T>A (p.Ser956Thr) | |
7 | g.117610639T>C | CA368990801 | CFTR | c.3109T>C (p.Ser1037Pro) c.*2823T>C (n.*2823T>C) c.2926T>C (p.Ser976Pro) c.*1409T>C (n.*1409T>C) c.*2933T>C (n.*2933T>C) c.2683T>C (p.Ser895Pro) c.700T>C (p.Ser234Pro) c.759T>C c.1891T>C (p.Ser631Pro) c.3019T>C (p.Ser1007Pro) c.3199T>C (p.Ser1067Pro) c.2866T>C (p.Ser956Pro) | |
7 | g.117610639T>G | CA368990799 | CFTR | c.3109T>G (p.Ser1037Ala) c.*2823T>G (n.*2823T>G) c.2926T>G (p.Ser976Ala) c.*1409T>G (n.*1409T>G) c.*2933T>G (n.*2933T>G) c.2683T>G (p.Ser895Ala) c.700T>G (p.Ser234Ala) c.759T>G c.1891T>G (p.Ser631Ala) c.3019T>G (p.Ser1007Ala) c.3199T>G (p.Ser1067Ala) c.2866T>G (p.Ser956Ala) | |
7 | g.117610640C>A | CA368990802 | CFTR | c.3110C>A (p.Ser1037Ter) c.*2824C>A (n.*2824C>A) c.2927C>A (p.Ser976Ter) c.*1410C>A (n.*1410C>A) c.*2934C>A (n.*2934C>A) c.2684C>A (p.Ser895Ter) c.701C>A (p.Ser234Ter) c.760C>A c.1892C>A (p.Ser631Ter) c.3020C>A (p.Ser1007Ter) c.3200C>A (p.Ser1067Ter) c.2867C>A (p.Ser956Ter) | ClinVar dbSNP |
7 | g.117610640C= | CA1737385151 | CFTR | c.3110C= (p.Ser1037=) c.*2824C= (n.*2824C=) c.2927C= (p.Ser976=) c.*1410C= (n.*1410C=) c.*2934C= (n.*2934C=) c.2684C= (p.Ser895=) c.701C= (p.Ser234=) c.760C= c.1892C= (p.Ser631=) c.3020C= (p.Ser1007=) c.3200C= (p.Ser1067=) c.2867C= (p.Ser956=) | |
7 | g.117610640C>G | CA368990803 | CFTR | c.3110C>G (p.Ser1037Ter) c.*2824C>G (n.*2824C>G) c.2927C>G (p.Ser976Ter) c.*1410C>G (n.*1410C>G) c.*2934C>G (n.*2934C>G) c.2684C>G (p.Ser895Ter) c.701C>G (p.Ser234Ter) c.760C>G c.1892C>G (p.Ser631Ter) c.3020C>G (p.Ser1007Ter) c.3200C>G (p.Ser1067Ter) c.2867C>G (p.Ser956Ter) | |
7 | g.117610640C>T | CA368990804 | CFTR | c.3110C>T (p.Ser1037Leu) c.*2824C>T (n.*2824C>T) c.2927C>T (p.Ser976Leu) c.*1410C>T (n.*1410C>T) c.*2934C>T (n.*2934C>T) c.2684C>T (p.Ser895Leu) c.701C>T (p.Ser234Leu) c.760C>T c.1892C>T (p.Ser631Leu) c.3020C>T (p.Ser1007Leu) c.3200C>T (p.Ser1067Leu) c.2867C>T (p.Ser956Leu) | gnomAD v4 COSMIC |
7 | g.117610641A= | CA1737385159 | CFTR | c.3111A= (p.Ser1037=) c.*2825A= (n.*2825A=) c.2928A= (p.Ser976=) c.*1411A= (n.*1411A=) c.*2935A= (n.*2935A=) c.2685A= (p.Ser895=) c.702A= (p.Ser234=) c.761A= c.1893A= (p.Ser631=) c.3021A= (p.Ser1007=) c.3201A= (p.Ser1067=) c.2868A= (p.Ser956=) | |
7 | g.117610641A>C | CA457229494 | CFTR | c.3111A>C (p.Ser1037=) c.*2825A>C (n.*2825A>C) c.2928A>C (p.Ser976=) c.*1411A>C (n.*1411A>C) c.*2935A>C (n.*2935A>C) c.2685A>C (p.Ser895=) c.702A>C (p.Ser234=) c.761A>C c.1893A>C (p.Ser631=) c.3021A>C (p.Ser1007=) c.3201A>C (p.Ser1067=) c.2868A>C (p.Ser956=) | gnomAD v4 |
7 | g.117610641A>G | CA457229499 | CFTR | c.3111A>G (p.Ser1037=) c.*2825A>G (n.*2825A>G) c.2928A>G (p.Ser976=) c.*1411A>G (n.*1411A>G) c.*2935A>G (n.*2935A>G) c.2685A>G (p.Ser895=) c.702A>G (p.Ser234=) c.761A>G c.1893A>G (p.Ser631=) c.3021A>G (p.Ser1007=) c.3201A>G (p.Ser1067=) c.2868A>G (p.Ser956=) | gnomAD v4 |
7 | g.117610641A>T | CA457229496 | CFTR | c.3111A>T (p.Ser1037=) c.*2825A>T (n.*2825A>T) c.2928A>T (p.Ser976=) c.*1411A>T (n.*1411A>T) c.*2935A>T (n.*2935A>T) c.2685A>T (p.Ser895=) c.702A>T (p.Ser234=) c.761A>T c.1893A>T (p.Ser631=) c.3021A>T (p.Ser1007=) c.3201A>T (p.Ser1067=) c.2868A>T (p.Ser956=) | |
7 | g.117610642C>A | CA368990805 | CFTR | c.3112C>A (p.Gln1038Lys) c.*2826C>A (n.*2826C>A) c.2929C>A (p.Gln977Lys) c.*1412C>A (n.*1412C>A) c.*2936C>A (n.*2936C>A) c.2686C>A (p.Gln896Lys) c.703C>A (p.Gln235Lys) c.762C>A c.1894C>A (p.Gln632Lys) c.3022C>A (p.Gln1008Lys) c.3202C>A (p.Gln1068Lys) c.2869C>A (p.Gln957Lys) | |
7 | g.117610642C>G | CA368990806 | CFTR | c.3112C>G (p.Gln1038Glu) c.*2826C>G (n.*2826C>G) c.2929C>G (p.Gln977Glu) c.*1412C>G (n.*1412C>G) c.*2936C>G (n.*2936C>G) c.2686C>G (p.Gln896Glu) c.703C>G (p.Gln235Glu) c.762C>G c.1894C>G (p.Gln632Glu) c.3022C>G (p.Gln1008Glu) c.3202C>G (p.Gln1068Glu) c.2869C>G (p.Gln957Glu) | gnomAD v4 |
7 | g.117610642C>T | CA368990807 | CFTR | c.3112C>T (p.Gln1038Ter) c.*2826C>T (n.*2826C>T) c.2929C>T (p.Gln977Ter) c.*1412C>T (n.*1412C>T) c.*2936C>T (n.*2936C>T) c.2686C>T (p.Gln896Ter) c.703C>T (p.Gln235Ter) c.762C>T c.1894C>T (p.Gln632Ter) c.3022C>T (p.Gln1008Ter) c.3202C>T (p.Gln1068Ter) c.2869C>T (p.Gln957Ter) | |
7 | g.117610644_117610646dup | CA832118244 | CFTR | c.3114_3116dup (p.Gln1039_Leu1040insGln) c.*2828_*2830dup (n.*2828_*2830dup) c.2931_2933dup (p.Gln978_Leu979insGln) c.*1414_*1416dup (n.*1414_*1416dup) c.*2938_*2940dup (n.*2938_*2940dup) c.2688_2690dup (p.Gln897_Leu898insGln) c.705_707dup (p.Gln236_Leu237insGln) c.764_766dup c.1896_1898dup (p.Gln633_Leu634insGln) c.3024_3026dup (p.Gln1009_Leu1010insGln) c.3204_3206dup (p.Gln1069_Leu1070insGln) c.2871_2873dup (p.Gln958_Leu959insGln) | ClinVar dbSNP |
7 | g.117610643A>C | CA368990808 | CFTR | c.3113A>C (p.Gln1038Pro) c.*2827A>C (n.*2827A>C) c.2930A>C (p.Gln977Pro) c.*1413A>C (n.*1413A>C) c.*2937A>C (n.*2937A>C) c.2687A>C (p.Gln896Pro) c.704A>C (p.Gln235Pro) c.763A>C c.1895A>C (p.Gln632Pro) c.3023A>C (p.Gln1008Pro) c.3203A>C (p.Gln1068Pro) c.2870A>C (p.Gln957Pro) | |
7 | g.117610643A>G | CA368990809 | CFTR | c.3113A>G (p.Gln1038Arg) c.*2827A>G (n.*2827A>G) c.2930A>G (p.Gln977Arg) c.*1413A>G (n.*1413A>G) c.*2937A>G (n.*2937A>G) c.2687A>G (p.Gln896Arg) c.704A>G (p.Gln235Arg) c.763A>G c.1895A>G (p.Gln632Arg) c.3023A>G (p.Gln1008Arg) c.3203A>G (p.Gln1068Arg) c.2870A>G (p.Gln957Arg) | ClinVar |
7 | g.117610643A>T | CA368990810 | CFTR | c.3113A>T (p.Gln1038Leu) c.*2827A>T (n.*2827A>T) c.2930A>T (p.Gln977Leu) c.*1413A>T (n.*1413A>T) c.*2937A>T (n.*2937A>T) c.2687A>T (p.Gln896Leu) c.704A>T (p.Gln235Leu) c.763A>T c.1895A>T (p.Gln632Leu) c.3023A>T (p.Gln1008Leu) c.3203A>T (p.Gln1068Leu) c.2870A>T (p.Gln957Leu) | |
7 | g.117610644G>A | CA457229507 | CFTR | c.3114G>A (p.Gln1038=) c.*2828G>A (n.*2828G>A) c.2931G>A (p.Gln977=) c.*1414G>A (n.*1414G>A) c.*2938G>A (n.*2938G>A) c.2688G>A (p.Gln896=) c.705G>A (p.Gln235=) c.764G>A c.1896G>A (p.Gln632=) c.3024G>A (p.Gln1008=) c.3204G>A (p.Gln1068=) c.2871G>A (p.Gln957=) | ClinVar dbSNP |
7 | g.117610644G>C | CA368990811 | CFTR | c.3114G>C (p.Gln1038His) c.*2828G>C (n.*2828G>C) c.2931G>C (p.Gln977His) c.*1414G>C (n.*1414G>C) c.*2938G>C (n.*2938G>C) c.2688G>C (p.Gln896His) c.705G>C (p.Gln235His) c.764G>C c.1896G>C (p.Gln632His) c.3024G>C (p.Gln1008His) c.3204G>C (p.Gln1068His) c.2871G>C (p.Gln957His) | |
7 | g.117610644G>T | CA368990812 | CFTR | c.3114G>T (p.Gln1038His) c.*2828G>T (n.*2828G>T) c.2931G>T (p.Gln977His) c.*1414G>T (n.*1414G>T) c.*2938G>T (n.*2938G>T) c.2688G>T (p.Gln896His) c.705G>T (p.Gln235His) c.764G>T c.1896G>T (p.Gln632His) c.3024G>T (p.Gln1008His) c.3204G>T (p.Gln1068His) c.2871G>T (p.Gln957His) | |
7 | g.117610645C>A | CA368990814 | CFTR | c.3115C>A (p.Gln1039Lys) c.*2829C>A (n.*2829C>A) c.2932C>A (p.Gln978Lys) c.*1415C>A (n.*1415C>A) c.*2939C>A (n.*2939C>A) c.2689C>A (p.Gln897Lys) c.706C>A (p.Gln236Lys) c.765C>A c.1897C>A (p.Gln633Lys) c.3025C>A (p.Gln1009Lys) c.3205C>A (p.Gln1069Lys) c.2872C>A (p.Gln958Lys) | |
7 | g.117610645C>G | CA368990815 | CFTR | c.3115C>G (p.Gln1039Glu) c.*2829C>G (n.*2829C>G) c.2932C>G (p.Gln978Glu) c.*1415C>G (n.*1415C>G) c.*2939C>G (n.*2939C>G) c.2689C>G (p.Gln897Glu) c.706C>G (p.Gln236Glu) c.765C>G c.1897C>G (p.Gln633Glu) c.3025C>G (p.Gln1009Glu) c.3205C>G (p.Gln1069Glu) c.2872C>G (p.Gln958Glu) | |
7 | g.117610645C>T | CA368990813 | CFTR | c.3115C>T (p.Gln1039Ter) c.*2829C>T (n.*2829C>T) c.2932C>T (p.Gln978Ter) c.*1415C>T (n.*1415C>T) c.*2939C>T (n.*2939C>T) c.2689C>T (p.Gln897Ter) c.706C>T (p.Gln236Ter) c.765C>T c.1897C>T (p.Gln633Ter) c.3025C>T (p.Gln1009Ter) c.3205C>T (p.Gln1069Ter) c.2872C>T (p.Gln958Ter) | |
7 | g.117610646A= | CA1737385169 | CFTR | c.3116A= (p.Gln1039=) c.*2830A= (n.*2830A=) c.2933A= (p.Gln978=) c.*1416A= (n.*1416A=) c.*2940A= (n.*2940A=) c.2690A= (p.Gln897=) c.707A= (p.Gln236=) c.766A= c.1898A= (p.Gln633=) c.3026A= (p.Gln1009=) c.3206A= (p.Gln1069=) c.2873A= (p.Gln958=) | |
7 | g.117610646A>C | CA368990816 | CFTR | c.3116A>C (p.Gln1039Pro) c.*2830A>C (n.*2830A>C) c.2933A>C (p.Gln978Pro) c.*1416A>C (n.*1416A>C) c.*2940A>C (n.*2940A>C) c.2690A>C (p.Gln897Pro) c.707A>C (p.Gln236Pro) c.766A>C c.1898A>C (p.Gln633Pro) c.3026A>C (p.Gln1009Pro) c.3206A>C (p.Gln1069Pro) c.2873A>C (p.Gln958Pro) | |
7 | g.117610646A>G | CA4451378 | CFTR | c.3116A>G (p.Gln1039Arg) c.*2830A>G (n.*2830A>G) c.2933A>G (p.Gln978Arg) c.*1416A>G (n.*1416A>G) c.*2940A>G (n.*2940A>G) c.2690A>G (p.Gln897Arg) c.707A>G (p.Gln236Arg) c.766A>G c.1898A>G (p.Gln633Arg) c.3026A>G (p.Gln1009Arg) c.3206A>G (p.Gln1069Arg) c.2873A>G (p.Gln958Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117610646A>T | CA368990817 | CFTR | c.3116A>T (p.Gln1039Leu) c.*2830A>T (n.*2830A>T) c.2933A>T (p.Gln978Leu) c.*1416A>T (n.*1416A>T) c.*2940A>T (n.*2940A>T) c.2690A>T (p.Gln897Leu) c.707A>T (p.Gln236Leu) c.766A>T c.1898A>T (p.Gln633Leu) c.3026A>T (p.Gln1009Leu) c.3206A>T (p.Gln1069Leu) c.2873A>T (p.Gln958Leu) | |
7 | g.117610647A>C | CA368990818 | CFTR | c.3117A>C (p.Gln1039His) c.*2831A>C (n.*2831A>C) c.2934A>C (p.Gln978His) c.*1417A>C (n.*1417A>C) c.*2941A>C (n.*2941A>C) c.2691A>C (p.Gln897His) c.708A>C (p.Gln236His) c.767A>C c.1899A>C (p.Gln633His) c.3027A>C (p.Gln1009His) c.3207A>C (p.Gln1069His) c.2874A>C (p.Gln958His) | |
7 | g.117610647A>G | CA457229518 | CFTR | c.3117A>G (p.Gln1039=) c.*2831A>G (n.*2831A>G) c.2934A>G (p.Gln978=) c.*1417A>G (n.*1417A>G) c.*2941A>G (n.*2941A>G) c.2691A>G (p.Gln897=) c.708A>G (p.Gln236=) c.767A>G c.1899A>G (p.Gln633=) c.3027A>G (p.Gln1009=) c.3207A>G (p.Gln1069=) c.2874A>G (p.Gln958=) | ClinVar |
7 | g.117610647A>T | CA368990819 | CFTR | c.3117A>T (p.Gln1039His) c.*2831A>T (n.*2831A>T) c.2934A>T (p.Gln978His) c.*1417A>T (n.*1417A>T) c.*2941A>T (n.*2941A>T) c.2691A>T (p.Gln897His) c.708A>T (p.Gln236His) c.767A>T c.1899A>T (p.Gln633His) c.3027A>T (p.Gln1009His) c.3207A>T (p.Gln1069His) c.2874A>T (p.Gln958His) | |
7 | g.117610648C>A | CA368990822 | CFTR | c.3118C>A (p.Leu1040Ile) c.*2832C>A (n.*2832C>A) c.2935C>A (p.Leu979Ile) c.*1418C>A (n.*1418C>A) c.*2942C>A (n.*2942C>A) c.2692C>A (p.Leu898Ile) c.709C>A (p.Leu237Ile) c.768C>A c.1900C>A (p.Leu634Ile) c.3028C>A (p.Leu1010Ile) c.3208C>A (p.Leu1070Ile) c.2875C>A (p.Leu959Ile) | |
7 | g.117610648C= | CA1737385175 | CFTR | c.3118C= (p.Leu1040=) c.*2832C= (n.*2832C=) c.2935C= (p.Leu979=) c.*1418C= (n.*1418C=) c.*2942C= (n.*2942C=) c.2692C= (p.Leu898=) c.709C= (p.Leu237=) c.768C= c.1900C= (p.Leu634=) c.3028C= (p.Leu1010=) c.3208C= (p.Leu1070=) c.2875C= (p.Leu959=) | |
7 | g.117610648C>G | CA368990820 | CFTR | c.3118C>G (p.Leu1040Val) c.*2832C>G (n.*2832C>G) c.2935C>G (p.Leu979Val) c.*1418C>G (n.*1418C>G) c.*2942C>G (n.*2942C>G) c.2692C>G (p.Leu898Val) c.709C>G (p.Leu237Val) c.768C>G c.1900C>G (p.Leu634Val) c.3028C>G (p.Leu1010Val) c.3208C>G (p.Leu1070Val) c.2875C>G (p.Leu959Val) | |
7 | g.117610648C>T | CA368990821 | CFTR | c.3118C>T (p.Leu1040Phe) c.*2832C>T (n.*2832C>T) c.2935C>T (p.Leu979Phe) c.*1418C>T (n.*1418C>T) c.*2942C>T (n.*2942C>T) c.2692C>T (p.Leu898Phe) c.709C>T (p.Leu237Phe) c.768C>T c.1900C>T (p.Leu634Phe) c.3028C>T (p.Leu1010Phe) c.3208C>T (p.Leu1070Phe) c.2875C>T (p.Leu959Phe) | ClinVar dbSNP gnomAD v4 |
7 | g.117610649T>A | CA368990823 | CFTR | c.3119T>A (p.Leu1040His) c.*2833T>A (n.*2833T>A) c.2936T>A (p.Leu979His) c.*1419T>A (n.*1419T>A) c.*2943T>A (n.*2943T>A) c.2693T>A (p.Leu898His) c.710T>A (p.Leu237His) c.769T>A c.1901T>A (p.Leu634His) c.3029T>A (p.Leu1010His) c.3209T>A (p.Leu1070His) c.2876T>A (p.Leu959His) | |
7 | g.117610649T>C | CA368990824 | CFTR | c.3119T>C (p.Leu1040Pro) c.*2833T>C (n.*2833T>C) c.2936T>C (p.Leu979Pro) c.*1419T>C (n.*1419T>C) c.*2943T>C (n.*2943T>C) c.2693T>C (p.Leu898Pro) c.710T>C (p.Leu237Pro) c.769T>C c.1901T>C (p.Leu634Pro) c.3029T>C (p.Leu1010Pro) c.3209T>C (p.Leu1070Pro) c.2876T>C (p.Leu959Pro) | ClinVar gnomAD v4 |
7 | g.117610649T>G | CA368990825 | CFTR | c.3119T>G (p.Leu1040Arg) c.*2833T>G (n.*2833T>G) c.2936T>G (p.Leu979Arg) c.*1419T>G (n.*1419T>G) c.*2943T>G (n.*2943T>G) c.2693T>G (p.Leu898Arg) c.710T>G (p.Leu237Arg) c.769T>G c.1901T>G (p.Leu634Arg) c.3029T>G (p.Leu1010Arg) c.3209T>G (p.Leu1070Arg) c.2876T>G (p.Leu959Arg) | |
7 | g.117610650C>A | CA457229529 | CFTR | c.3120C>A (p.Leu1040=) c.*2834C>A (n.*2834C>A) c.2937C>A (p.Leu979=) c.*1420C>A (n.*1420C>A) c.*2944C>A (n.*2944C>A) c.2694C>A (p.Leu898=) c.711C>A (p.Leu237=) c.770C>A c.1902C>A (p.Leu634=) c.3030C>A (p.Leu1010=) c.3210C>A (p.Leu1070=) c.2877C>A (p.Leu959=) | |
7 | g.117610650C= | CA1737385178 | CFTR | c.3120C= (p.Leu1040=) c.*2834C= (n.*2834C=) c.2937C= (p.Leu979=) c.*1420C= (n.*1420C=) c.*2944C= (n.*2944C=) c.2694C= (p.Leu898=) c.711C= (p.Leu237=) c.770C= c.1902C= (p.Leu634=) c.3030C= (p.Leu1010=) c.3210C= (p.Leu1070=) c.2877C= (p.Leu959=) | |
7 | g.117610650C>G | CA457229530 | CFTR | c.3120C>G (p.Leu1040=) c.*2834C>G (n.*2834C>G) c.2937C>G (p.Leu979=) c.*1420C>G (n.*1420C>G) c.*2944C>G (n.*2944C>G) c.2694C>G (p.Leu898=) c.711C>G (p.Leu237=) c.770C>G c.1902C>G (p.Leu634=) c.3030C>G (p.Leu1010=) c.3210C>G (p.Leu1070=) c.2877C>G (p.Leu959=) | |
7 | g.117610650C>T | CA457229533 | CFTR | c.3120C>T (p.Leu1040=) c.*2834C>T (n.*2834C>T) c.2937C>T (p.Leu979=) c.*1420C>T (n.*1420C>T) c.*2944C>T (n.*2944C>T) c.2694C>T (p.Leu898=) c.711C>T (p.Leu237=) c.770C>T c.1902C>T (p.Leu634=) c.3030C>T (p.Leu1010=) c.3210C>T (p.Leu1070=) c.2877C>T (p.Leu959=) | ClinVar |
7 | g.117610651A= | CA1737385188 | CFTR | c.3121A= (p.Lys1041=) c.*2835A= (n.*2835A=) c.2938A= (p.Lys980=) c.*1421A= (n.*1421A=) c.*2945A= (n.*2945A=) c.2695A= (p.Lys899=) c.712A= (p.Lys238=) c.771A= c.1903A= (p.Lys635=) c.3031A= (p.Lys1011=) c.3211A= (p.Lys1071=) c.2878A= (p.Lys960=) | |
7 | g.117610651A>C | CA4451379 | CFTR | c.3121A>C (p.Lys1041Gln) c.*2835A>C (n.*2835A>C) c.2938A>C (p.Lys980Gln) c.*1421A>C (n.*1421A>C) c.*2945A>C (n.*2945A>C) c.2695A>C (p.Lys899Gln) c.712A>C (p.Lys238Gln) c.771A>C c.1903A>C (p.Lys635Gln) c.3031A>C (p.Lys1011Gln) c.3211A>C (p.Lys1071Gln) c.2878A>C (p.Lys960Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117610651A>G | CA368990826 | CFTR | c.3121A>G (p.Lys1041Glu) c.*2835A>G (n.*2835A>G) c.2938A>G (p.Lys980Glu) c.*1421A>G (n.*1421A>G) c.*2945A>G (n.*2945A>G) c.2695A>G (p.Lys899Glu) c.712A>G (p.Lys238Glu) c.771A>G c.1903A>G (p.Lys635Glu) c.3031A>G (p.Lys1011Glu) c.3211A>G (p.Lys1071Glu) c.2878A>G (p.Lys960Glu) | |
7 | g.117610651A>T | CA368990827 | CFTR | c.3121A>T (p.Lys1041Ter) c.*2835A>T (n.*2835A>T) c.2938A>T (p.Lys980Ter) c.*1421A>T (n.*1421A>T) c.*2945A>T (n.*2945A>T) c.2695A>T (p.Lys899Ter) c.712A>T (p.Lys238Ter) c.771A>T c.1903A>T (p.Lys635Ter) c.3031A>T (p.Lys1011Ter) c.3211A>T (p.Lys1071Ter) c.2878A>T (p.Lys960Ter) | |
7 | g.117610653dup | CA832118266 | CFTR | c.3123dup (p.Gln1042ThrfsTer5) c.*2837dup (n.*2837dup) c.2940dup (p.Gln981ThrfsTer5) c.*1423dup (n.*1423dup) c.*2947dup (n.*2947dup) c.2697dup (p.Gln900ThrfsTer5) c.714dup (p.Gln239ThrfsTer5) c.773dup c.1905dup (p.Gln636ThrfsTer5) c.3033dup (p.Gln1012ThrfsTer5) c.3213dup (p.Gln1072ThrfsTer5) c.2880dup (p.Gln961ThrfsTer5) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117610652A= | CA1737385196 | CFTR | c.3122A= (p.Lys1041=) c.*2836A= (n.*2836A=) c.2939A= (p.Lys980=) c.*1422A= (n.*1422A=) c.*2946A= (n.*2946A=) c.2696A= (p.Lys899=) c.713A= (p.Lys238=) c.772A= c.1904A= (p.Lys635=) c.3032A= (p.Lys1011=) c.3212A= (p.Lys1071=) c.2879A= (p.Lys960=) | |
7 | g.117610652A>C | CA368990829 | CFTR | c.3122A>C (p.Lys1041Thr) c.*2836A>C (n.*2836A>C) c.2939A>C (p.Lys980Thr) c.*1422A>C (n.*1422A>C) c.*2946A>C (n.*2946A>C) c.2696A>C (p.Lys899Thr) c.713A>C (p.Lys238Thr) c.772A>C c.1904A>C (p.Lys635Thr) c.3032A>C (p.Lys1011Thr) c.3212A>C (p.Lys1071Thr) c.2879A>C (p.Lys960Thr) | |
7 | g.117610652A>G | CA368990830 | CFTR | c.3122A>G (p.Lys1041Arg) c.*2836A>G (n.*2836A>G) c.2939A>G (p.Lys980Arg) c.*1422A>G (n.*1422A>G) c.*2946A>G (n.*2946A>G) c.2696A>G (p.Lys899Arg) c.713A>G (p.Lys238Arg) c.772A>G c.1904A>G (p.Lys635Arg) c.3032A>G (p.Lys1011Arg) c.3212A>G (p.Lys1071Arg) c.2879A>G (p.Lys960Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.117610652A>T | CA368990828 | CFTR | c.3122A>T (p.Lys1041Ile) c.*2836A>T (n.*2836A>T) c.2939A>T (p.Lys980Ile) c.*1422A>T (n.*1422A>T) c.*2946A>T (n.*2946A>T) c.2696A>T (p.Lys899Ile) c.713A>T (p.Lys238Ile) c.772A>T c.1904A>T (p.Lys635Ile) c.3032A>T (p.Lys1011Ile) c.3212A>T (p.Lys1071Ile) c.2879A>T (p.Lys960Ile) | |
7 | g.117610653A>C | CA368990832 | CFTR | c.3123A>C (p.Lys1041Asn) c.*2837A>C (n.*2837A>C) c.2940A>C (p.Lys980Asn) c.*1423A>C (n.*1423A>C) c.*2947A>C (n.*2947A>C) c.2697A>C (p.Lys899Asn) c.714A>C (p.Lys238Asn) c.773A>C c.1905A>C (p.Lys635Asn) c.3033A>C (p.Lys1011Asn) c.3213A>C (p.Lys1071Asn) c.2880A>C (p.Lys960Asn) | |
7 | g.117610653A>G | CA457229543 | CFTR | c.3123A>G (p.Lys1041=) c.*2837A>G (n.*2837A>G) c.2940A>G (p.Lys980=) c.*1423A>G (n.*1423A>G) c.*2947A>G (n.*2947A>G) c.2697A>G (p.Lys899=) c.714A>G (p.Lys238=) c.773A>G c.1905A>G (p.Lys635=) c.3033A>G (p.Lys1011=) c.3213A>G (p.Lys1071=) c.2880A>G (p.Lys960=) | |
7 | g.117610653A>T | CA368990831 | CFTR | c.3123A>T (p.Lys1041Asn) c.*2837A>T (n.*2837A>T) c.2940A>T (p.Lys980Asn) c.*1423A>T (n.*1423A>T) c.*2947A>T (n.*2947A>T) c.2697A>T (p.Lys899Asn) c.714A>T (p.Lys238Asn) c.773A>T c.1905A>T (p.Lys635Asn) c.3033A>T (p.Lys1011Asn) c.3213A>T (p.Lys1071Asn) c.2880A>T (p.Lys960Asn) | |
7 | g.117610654C>A | CA368990833 | CFTR | c.3124C>A (p.Gln1042Lys) c.*2838C>A (n.*2838C>A) c.2941C>A (p.Gln981Lys) c.*1424C>A (n.*1424C>A) c.*2948C>A (n.*2948C>A) c.2698C>A (p.Gln900Lys) c.715C>A (p.Gln239Lys) c.774C>A c.1906C>A (p.Gln636Lys) c.3034C>A (p.Gln1012Lys) c.3214C>A (p.Gln1072Lys) c.2881C>A (p.Gln961Lys) | |
7 | g.117610654C= | CA1737385201 | CFTR | c.3124C= (p.Gln1042=) c.*2838C= (n.*2838C=) c.2941C= (p.Gln981=) c.*1424C= (n.*1424C=) c.*2948C= (n.*2948C=) c.2698C= (p.Gln900=) c.715C= (p.Gln239=) c.774C= c.1906C= (p.Gln636=) c.3034C= (p.Gln1012=) c.3214C= (p.Gln1072=) c.2881C= (p.Gln961=) | |
7 | g.117610654C>G | CA368990834 | CFTR | c.3124C>G (p.Gln1042Glu) c.*2838C>G (n.*2838C>G) c.2941C>G (p.Gln981Glu) c.*1424C>G (n.*1424C>G) c.*2948C>G (n.*2948C>G) c.2698C>G (p.Gln900Glu) c.715C>G (p.Gln239Glu) c.774C>G c.1906C>G (p.Gln636Glu) c.3034C>G (p.Gln1012Glu) c.3214C>G (p.Gln1072Glu) c.2881C>G (p.Gln961Glu) | |
7 | g.117610654C>T | CA327049 | CFTR | c.3124C>T (p.Gln1042Ter) c.*2838C>T (n.*2838C>T) c.2941C>T (p.Gln981Ter) c.*1424C>T (n.*1424C>T) c.*2948C>T (n.*2948C>T) c.2698C>T (p.Gln900Ter) c.715C>T (p.Gln239Ter) c.774C>T c.1906C>T (p.Gln636Ter) c.3034C>T (p.Gln1012Ter) c.3214C>T (p.Gln1072Ter) c.2881C>T (p.Gln961Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117610655A= | CA1737385210 | CFTR | c.3125A= (p.Gln1042=) c.*2839A= (n.*2839A=) c.2942A= (p.Gln981=) c.*1425A= (n.*1425A=) c.*2949A= (n.*2949A=) c.2699A= (p.Gln900=) c.716A= (p.Gln239=) c.775A= c.1907A= (p.Gln636=) c.3035A= (p.Gln1012=) c.3215A= (p.Gln1072=) c.2882A= (p.Gln961=) | |
7 | g.117610655A>C | CA368990835 | CFTR | c.3125A>C (p.Gln1042Pro) c.*2839A>C (n.*2839A>C) c.2942A>C (p.Gln981Pro) c.*1425A>C (n.*1425A>C) c.*2949A>C (n.*2949A>C) c.2699A>C (p.Gln900Pro) c.716A>C (p.Gln239Pro) c.775A>C c.1907A>C (p.Gln636Pro) c.3035A>C (p.Gln1012Pro) c.3215A>C (p.Gln1072Pro) c.2882A>C (p.Gln961Pro) | gnomAD v4 |
7 | g.117610655A>G | CA368990836 | CFTR | c.3125A>G (p.Gln1042Arg) c.*2839A>G (n.*2839A>G) c.2942A>G (p.Gln981Arg) c.*1425A>G (n.*1425A>G) c.*2949A>G (n.*2949A>G) c.2699A>G (p.Gln900Arg) c.716A>G (p.Gln239Arg) c.775A>G c.1907A>G (p.Gln636Arg) c.3035A>G (p.Gln1012Arg) c.3215A>G (p.Gln1072Arg) c.2882A>G (p.Gln961Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117610655A>T | CA368990837 | CFTR | c.3125A>T (p.Gln1042Leu) c.*2839A>T (n.*2839A>T) c.2942A>T (p.Gln981Leu) c.*1425A>T (n.*1425A>T) c.*2949A>T (n.*2949A>T) c.2699A>T (p.Gln900Leu) c.716A>T (p.Gln239Leu) c.775A>T c.1907A>T (p.Gln636Leu) c.3035A>T (p.Gln1012Leu) c.3215A>T (p.Gln1072Leu) c.2882A>T (p.Gln961Leu) | |
7 | g.117610656A>C | CA368990838 | CFTR | c.3126A>C (p.Gln1042His) c.*2840A>C (n.*2840A>C) c.2943A>C (p.Gln981His) c.*1426A>C (n.*1426A>C) c.*2950A>C (n.*2950A>C) c.2700A>C (p.Gln900His) c.717A>C (p.Gln239His) c.776A>C c.1908A>C (p.Gln636His) c.3036A>C (p.Gln1012His) c.3216A>C (p.Gln1072His) c.2883A>C (p.Gln961His) | |
7 | g.117610656A>G | CA457229554 | CFTR | c.3126A>G (p.Gln1042=) c.*2840A>G (n.*2840A>G) c.2943A>G (p.Gln981=) c.*1426A>G (n.*1426A>G) c.*2950A>G (n.*2950A>G) c.2700A>G (p.Gln900=) c.717A>G (p.Gln239=) c.776A>G c.1908A>G (p.Gln636=) c.3036A>G (p.Gln1012=) c.3216A>G (p.Gln1072=) c.2883A>G (p.Gln961=) | |
7 | g.117610656A>T | CA368990839 | CFTR | c.3126A>T (p.Gln1042His) c.*2840A>T (n.*2840A>T) c.2943A>T (p.Gln981His) c.*1426A>T (n.*1426A>T) c.*2950A>T (n.*2950A>T) c.2700A>T (p.Gln900His) c.717A>T (p.Gln239His) c.776A>T c.1908A>T (p.Gln636His) c.3036A>T (p.Gln1012His) c.3216A>T (p.Gln1072His) c.2883A>T (p.Gln961His) | |
7 | g.117610657C>A | CA368990840 | CFTR | c.3127C>A (p.Leu1043Met) c.*2841C>A (n.*2841C>A) c.2944C>A (p.Leu982Met) c.*1427C>A (n.*1427C>A) c.*2951C>A (n.*2951C>A) c.2701C>A (p.Leu901Met) c.718C>A (p.Leu240Met) c.777C>A c.1909C>A (p.Leu637Met) c.3037C>A (p.Leu1013Met) c.3217C>A (p.Leu1073Met) c.2884C>A (p.Leu962Met) | |
7 | g.117610657C>G | CA368990841 | CFTR | c.3127C>G (p.Leu1043Val) c.*2841C>G (n.*2841C>G) c.2944C>G (p.Leu982Val) c.*1427C>G (n.*1427C>G) c.*2951C>G (n.*2951C>G) c.2701C>G (p.Leu901Val) c.718C>G (p.Leu240Val) c.777C>G c.1909C>G (p.Leu637Val) c.3037C>G (p.Leu1013Val) c.3217C>G (p.Leu1073Val) c.2884C>G (p.Leu962Val) | |
7 | g.117610657C>T | CA457229558 | CFTR | c.3127C>T (p.Leu1043=) c.*2841C>T (n.*2841C>T) c.2944C>T (p.Leu982=) c.*1427C>T (n.*1427C>T) c.*2951C>T (n.*2951C>T) c.2701C>T (p.Leu901=) c.718C>T (p.Leu240=) c.777C>T c.1909C>T (p.Leu637=) c.3037C>T (p.Leu1013=) c.3217C>T (p.Leu1073=) c.2884C>T (p.Leu962=) | |
7 | g.117610658T>A | CA164965384 | CFTR | c.3128T>A (p.Leu1043Gln) c.*2842T>A (n.*2842T>A) c.2945T>A (p.Leu982Gln) c.*1428T>A (n.*1428T>A) c.*2952T>A (n.*2952T>A) c.2702T>A (p.Leu901Gln) c.719T>A (p.Leu240Gln) c.778T>A c.1910T>A (p.Leu637Gln) c.3038T>A (p.Leu1013Gln) c.3218T>A (p.Leu1073Gln) c.2885T>A (p.Leu962Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117610658T>C | CA368990842 | CFTR | c.3128T>C (p.Leu1043Pro) c.*2842T>C (n.*2842T>C) c.2945T>C (p.Leu982Pro) c.*1428T>C (n.*1428T>C) c.*2952T>C (n.*2952T>C) c.2702T>C (p.Leu901Pro) c.719T>C (p.Leu240Pro) c.778T>C c.1910T>C (p.Leu637Pro) c.3038T>C (p.Leu1013Pro) c.3218T>C (p.Leu1073Pro) c.2885T>C (p.Leu962Pro) | |
7 | g.117610658T>G | CA368990843 | CFTR | c.3128T>G (p.Leu1043Arg) c.*2842T>G (n.*2842T>G) c.2945T>G (p.Leu982Arg) c.*1428T>G (n.*1428T>G) c.*2952T>G (n.*2952T>G) c.2702T>G (p.Leu901Arg) c.719T>G (p.Leu240Arg) c.778T>G c.1910T>G (p.Leu637Arg) c.3038T>G (p.Leu1013Arg) c.3218T>G (p.Leu1073Arg) c.2885T>G (p.Leu962Arg) | |
7 | g.117610658T= | CA1737385226 | CFTR | c.3128T= (p.Leu1043=) c.*2842T= (n.*2842T=) c.2945T= (p.Leu982=) c.*1428T= (n.*1428T=) c.*2952T= (n.*2952T=) c.2702T= (p.Leu901=) c.719T= (p.Leu240=) c.778T= c.1910T= (p.Leu637=) c.3038T= (p.Leu1013=) c.3218T= (p.Leu1073=) c.2885T= (p.Leu962=) | |
7 | g.117610659G>A | CA457229565 | CFTR | c.3129G>A (p.Leu1043=) c.*2843G>A (n.*2843G>A) c.2946G>A (p.Leu982=) c.*1429G>A (n.*1429G>A) c.*2953G>A (n.*2953G>A) c.2703G>A (p.Leu901=) c.720G>A (p.Leu240=) c.779G>A c.1911G>A (p.Leu637=) c.3039G>A (p.Leu1013=) c.3219G>A (p.Leu1073=) c.2886G>A (p.Leu962=) | ClinVar |
7 | g.117610659G>C | CA457229566 | CFTR | c.3129G>C (p.Leu1043=) c.*2843G>C (n.*2843G>C) c.2946G>C (p.Leu982=) c.*1429G>C (n.*1429G>C) c.*2953G>C (n.*2953G>C) c.2703G>C (p.Leu901=) c.720G>C (p.Leu240=) c.779G>C c.1911G>C (p.Leu637=) c.3039G>C (p.Leu1013=) c.3219G>C (p.Leu1073=) c.2886G>C (p.Leu962=) | |
7 | g.117610659G>T | CA457229569 | CFTR | c.3129G>T (p.Leu1043=) c.*2843G>T (n.*2843G>T) c.2946G>T (p.Leu982=) c.*1429G>T (n.*1429G>T) c.*2953G>T (n.*2953G>T) c.2703G>T (p.Leu901=) c.720G>T (p.Leu240=) c.779G>T c.1911G>T (p.Leu637=) c.3039G>T (p.Leu1013=) c.3219G>T (p.Leu1073=) c.2886G>T (p.Leu962=) | |
7 | g.117610660G>A | CA368990844 | CFTR | c.3130G>A (p.Glu1044Lys) c.*2844G>A (n.*2844G>A) c.2947G>A (p.Glu983Lys) c.*1430G>A (n.*1430G>A) c.*2954G>A (n.*2954G>A) c.2704G>A (p.Glu902Lys) c.721G>A (p.Glu241Lys) c.780G>A c.1912G>A (p.Glu638Lys) c.3040G>A (p.Glu1014Lys) c.3220G>A (p.Glu1074Lys) c.2887G>A (p.Glu963Lys) | |
7 | g.117610660G>C | CA368990846 | CFTR | c.3130G>C (p.Glu1044Gln) c.*2844G>C (n.*2844G>C) c.2947G>C (p.Glu983Gln) c.*1430G>C (n.*1430G>C) c.*2954G>C (n.*2954G>C) c.2704G>C (p.Glu902Gln) c.721G>C (p.Glu241Gln) c.780G>C c.1912G>C (p.Glu638Gln) c.3040G>C (p.Glu1014Gln) c.3220G>C (p.Glu1074Gln) c.2887G>C (p.Glu963Gln) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117610660G= | CA1737385234 | CFTR | c.3130G= (p.Glu1044=) c.*2844G= (n.*2844G=) c.2947G= (p.Glu983=) c.*1430G= (n.*1430G=) c.*2954G= (n.*2954G=) c.2704G= (p.Glu902=) c.721G= (p.Glu241=) c.780G= c.1912G= (p.Glu638=) c.3040G= (p.Glu1014=) c.3220G= (p.Glu1074=) c.2887G= (p.Glu963=) | |
7 | g.117610660G>T | CA368990845 | CFTR | c.3130G>T (p.Glu1044Ter) c.*2844G>T (n.*2844G>T) c.2947G>T (p.Glu983Ter) c.*1430G>T (n.*1430G>T) c.*2954G>T (n.*2954G>T) c.2704G>T (p.Glu902Ter) c.721G>T (p.Glu241Ter) c.780G>T c.1912G>T (p.Glu638Ter) c.3040G>T (p.Glu1014Ter) c.3220G>T (p.Glu1074Ter) c.2887G>T (p.Glu963Ter) | dbSNP |
7 | g.117610661A= | CA1737385248 | CFTR | c.3131A= (p.Glu1044=) c.*2845A= (n.*2845A=) c.2948A= (p.Glu983=) c.*1431A= (n.*1431A=) c.*2955A= (n.*2955A=) c.2705A= (p.Glu902=) c.722A= (p.Glu241=) c.781A= c.1913A= (p.Glu638=) c.3041A= (p.Glu1014=) c.3221A= (p.Glu1074=) c.2888A= (p.Glu963=) | |
7 | g.117610661A>C | CA368990847 | CFTR | c.3131A>C (p.Glu1044Ala) c.*2845A>C (n.*2845A>C) c.2948A>C (p.Glu983Ala) c.*1431A>C (n.*1431A>C) c.*2955A>C (n.*2955A>C) c.2705A>C (p.Glu902Ala) c.722A>C (p.Glu241Ala) c.781A>C c.1913A>C (p.Glu638Ala) c.3041A>C (p.Glu1014Ala) c.3221A>C (p.Glu1074Ala) c.2888A>C (p.Glu963Ala) | |
7 | g.117610661A>G | CA327051 | CFTR | c.3131A>G (p.Glu1044Gly) c.*2845A>G (n.*2845A>G) c.2948A>G (p.Glu983Gly) c.*1431A>G (n.*1431A>G) c.*2955A>G (n.*2955A>G) c.2705A>G (p.Glu902Gly) c.722A>G (p.Glu241Gly) c.781A>G c.1913A>G (p.Glu638Gly) c.3041A>G (p.Glu1014Gly) c.3221A>G (p.Glu1074Gly) c.2888A>G (p.Glu963Gly) | ClinVar dbSNP |
7 | g.117610661A>T | CA368990848 | CFTR | c.3131A>T (p.Glu1044Val) c.*2845A>T (n.*2845A>T) c.2948A>T (p.Glu983Val) c.*1431A>T (n.*1431A>T) c.*2955A>T (n.*2955A>T) c.2705A>T (p.Glu902Val) c.722A>T (p.Glu241Val) c.781A>T c.1913A>T (p.Glu638Val) c.3041A>T (p.Glu1014Val) c.3221A>T (p.Glu1074Val) c.2888A>T (p.Glu963Val) | |
7 | g.117610662A= | CA1737385256 | CFTR | c.3132A= (p.Glu1044=) c.*2846A= (n.*2846A=) c.2949A= (p.Glu983=) c.*1432A= (n.*1432A=) c.*2956A= (n.*2956A=) c.2706A= (p.Glu902=) c.723A= (p.Glu241=) c.782A= c.1914A= (p.Glu638=) c.3042A= (p.Glu1014=) c.3222A= (p.Glu1074=) c.2889A= (p.Glu963=) | |
7 | g.117610662A>C | CA368990849 | CFTR | c.3132A>C (p.Glu1044Asp) c.*2846A>C (n.*2846A>C) c.2949A>C (p.Glu983Asp) c.*1432A>C (n.*1432A>C) c.*2956A>C (n.*2956A>C) c.2706A>C (p.Glu902Asp) c.723A>C (p.Glu241Asp) c.782A>C c.1914A>C (p.Glu638Asp) c.3042A>C (p.Glu1014Asp) c.3222A>C (p.Glu1074Asp) c.2889A>C (p.Glu963Asp) | |
7 | g.117610662A>G | CA457229578 | CFTR | c.3132A>G (p.Glu1044=) c.*2846A>G (n.*2846A>G) c.2949A>G (p.Glu983=) c.*1432A>G (n.*1432A>G) c.*2956A>G (n.*2956A>G) c.2706A>G (p.Glu902=) c.723A>G (p.Glu241=) c.782A>G c.1914A>G (p.Glu638=) c.3042A>G (p.Glu1014=) c.3222A>G (p.Glu1074=) c.2889A>G (p.Glu963=) | |
7 | g.117610662A>T | CA368990850 | CFTR | c.3132A>T (p.Glu1044Asp) c.*2846A>T (n.*2846A>T) c.2949A>T (p.Glu983Asp) c.*1432A>T (n.*1432A>T) c.*2956A>T (n.*2956A>T) c.2706A>T (p.Glu902Asp) c.723A>T (p.Glu241Asp) c.782A>T c.1914A>T (p.Glu638Asp) c.3042A>T (p.Glu1014Asp) c.3222A>T (p.Glu1074Asp) c.2889A>T (p.Glu963Asp) | dbSNP |
7 | g.117610662_117610663insGA | CA1737385255 | CFTR | c.3132_3133insGA (p.Ser1045AspfsTer16) c.*2846_*2847insGA (n.*2846_*2847insGA) c.2949_2950insGA (p.Ser984AspfsTer16) c.*1432_*1433insGA (n.*1432_*1433insGA) c.*2956_*2957insGA (n.*2956_*2957insGA) c.2706_2707insGA (p.Ser903AspfsTer16) c.723_724insGA (p.Ser242AspfsTer16) c.782_783insGA c.1914_1915insGA (p.Ser639AspfsTer16) c.3042_3043insGA (p.Ser1015AspfsTer16) c.3222_3223insGA (p.Ser1075AspfsTer16) c.2889_2890insGA (p.Ser964AspfsTer16) | dbSNP |
7 | g.117610663T>A | CA368990851 | CFTR | c.3133T>A (p.Ser1045Thr) c.*2847T>A (n.*2847T>A) c.2950T>A (p.Ser984Thr) c.*1433T>A (n.*1433T>A) c.*2957T>A (n.*2957T>A) c.2707T>A (p.Ser903Thr) c.724T>A (p.Ser242Thr) c.783T>A c.1915T>A (p.Ser639Thr) c.3043T>A (p.Ser1015Thr) c.3223T>A (p.Ser1075Thr) c.2890T>A (p.Ser964Thr) | |
7 | g.117610663T>C | CA368990852 | CFTR | c.3133T>C (p.Ser1045Pro) c.*2847T>C (n.*2847T>C) c.2950T>C (p.Ser984Pro) c.*1433T>C (n.*1433T>C) c.*2957T>C (n.*2957T>C) c.2707T>C (p.Ser903Pro) c.724T>C (p.Ser242Pro) c.783T>C c.1915T>C (p.Ser639Pro) c.3043T>C (p.Ser1015Pro) c.3223T>C (p.Ser1075Pro) c.2890T>C (p.Ser964Pro) | |
7 | g.117610663T>G | CA368990853 | CFTR | c.3133T>G (p.Ser1045Ala) c.*2847T>G (n.*2847T>G) c.2950T>G (p.Ser984Ala) c.*1433T>G (n.*1433T>G) c.*2957T>G (n.*2957T>G) c.2707T>G (p.Ser903Ala) c.724T>G (p.Ser242Ala) c.783T>G c.1915T>G (p.Ser639Ala) c.3043T>G (p.Ser1015Ala) c.3223T>G (p.Ser1075Ala) c.2890T>G (p.Ser964Ala) | |
7 | g.117610664C>A | CA368990854 | CFTR | c.3134C>A (p.Ser1045Tyr) c.*2848C>A (n.*2848C>A) c.2951C>A (p.Ser984Tyr) c.*1434C>A (n.*1434C>A) c.*2958C>A (n.*2958C>A) c.2708C>A (p.Ser903Tyr) c.725C>A (p.Ser242Tyr) c.784C>A c.1916C>A (p.Ser639Tyr) c.3044C>A (p.Ser1015Tyr) c.3224C>A (p.Ser1075Tyr) c.2891C>A (p.Ser964Tyr) | ClinVar dbSNP gnomAD v4 |
7 | g.117610664C= | CA1737385260 | CFTR | c.3134C= (p.Ser1045=) c.*2848C= (n.*2848C=) c.2951C= (p.Ser984=) c.*1434C= (n.*1434C=) c.*2958C= (n.*2958C=) c.2708C= (p.Ser903=) c.725C= (p.Ser242=) c.784C= c.1916C= (p.Ser639=) c.3044C= (p.Ser1015=) c.3224C= (p.Ser1075=) c.2891C= (p.Ser964=) | |
7 | g.117610664C>G | CA368990855 | CFTR | c.3134C>G (p.Ser1045Cys) c.*2848C>G (n.*2848C>G) c.2951C>G (p.Ser984Cys) c.*1434C>G (n.*1434C>G) c.*2958C>G (n.*2958C>G) c.2708C>G (p.Ser903Cys) c.725C>G (p.Ser242Cys) c.784C>G c.1916C>G (p.Ser639Cys) c.3044C>G (p.Ser1015Cys) c.3224C>G (p.Ser1075Cys) c.2891C>G (p.Ser964Cys) | |
7 | g.117610664C>T | CA368990856 | CFTR | c.3134C>T (p.Ser1045Phe) c.*2848C>T (n.*2848C>T) c.2951C>T (p.Ser984Phe) c.*1434C>T (n.*1434C>T) c.*2958C>T (n.*2958C>T) c.2708C>T (p.Ser903Phe) c.725C>T (p.Ser242Phe) c.784C>T c.1916C>T (p.Ser639Phe) c.3044C>T (p.Ser1015Phe) c.3224C>T (p.Ser1075Phe) c.2891C>T (p.Ser964Phe) | ClinVar dbSNP |
7 | g.117610664_117610665insAA | CA1737385269 | CFTR | c.3134_3135insAA (p.Glu1046MetfsTer15) c.*2848_*2849insAA (n.*2848_*2849insAA) c.2951_2952insAA (p.Glu985MetfsTer15) c.*1434_*1435insAA (n.*1434_*1435insAA) c.*2958_*2959insAA (n.*2958_*2959insAA) c.2708_2709insAA (p.Glu904MetfsTer15) c.725_726insAA (p.Glu243MetfsTer15) c.784_785insAA c.1916_1917insAA (p.Glu640MetfsTer15) c.3044_3045insAA (p.Glu1016MetfsTer15) c.3224_3225insAA (p.Glu1076MetfsTer15) c.2891_2892insAA (p.Glu965MetfsTer15) | dbSNP |
7 | g.117610665T>A | CA457229588 | CFTR | c.3135T>A (p.Ser1045=) c.*2849T>A (n.*2849T>A) c.2952T>A (p.Ser984=) c.*1435T>A (n.*1435T>A) c.*2959T>A (n.*2959T>A) c.2709T>A (p.Ser903=) c.726T>A (p.Ser242=) c.785T>A c.1917T>A (p.Ser639=) c.3045T>A (p.Ser1015=) c.3225T>A (p.Ser1075=) c.2892T>A (p.Ser964=) | dbSNP |
7 | g.117610665T>C | CA457229590 | CFTR | c.3135T>C (p.Ser1045=) c.*2849T>C (n.*2849T>C) c.2952T>C (p.Ser984=) c.*1435T>C (n.*1435T>C) c.*2959T>C (n.*2959T>C) c.2709T>C (p.Ser903=) c.726T>C (p.Ser242=) c.785T>C c.1917T>C (p.Ser639=) c.3045T>C (p.Ser1015=) c.3225T>C (p.Ser1075=) c.2892T>C (p.Ser964=) | |
7 | g.117610665T>G | CA457229592 | CFTR | c.3135T>G (p.Ser1045=) c.*2849T>G (n.*2849T>G) c.2952T>G (p.Ser984=) c.*1435T>G (n.*1435T>G) c.*2959T>G (n.*2959T>G) c.2709T>G (p.Ser903=) c.726T>G (p.Ser242=) c.785T>G c.1917T>G (p.Ser639=) c.3045T>G (p.Ser1015=) c.3225T>G (p.Ser1075=) c.2892T>G (p.Ser964=) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117610665T= | CA1737385268 | CFTR | c.3135T= (p.Ser1045=) c.*2849T= (n.*2849T=) c.2952T= (p.Ser984=) c.*1435T= (n.*1435T=) c.*2959T= (n.*2959T=) c.2709T= (p.Ser903=) c.726T= (p.Ser242=) c.785T= c.1917T= (p.Ser639=) c.3045T= (p.Ser1015=) c.3225T= (p.Ser1075=) c.2892T= (p.Ser964=) | |
7 | g.117610666G>A | CA368990859 | CFTR | c.3136G>A (p.Glu1046Lys) c.*2850G>A (n.*2850G>A) c.2953G>A (p.Glu985Lys) c.*1436G>A (n.*1436G>A) c.*2960G>A (n.*2960G>A) c.2710G>A (p.Glu904Lys) c.727G>A (p.Glu243Lys) c.786G>A c.1918G>A (p.Glu640Lys) c.3046G>A (p.Glu1016Lys) c.3226G>A (p.Glu1076Lys) c.2893G>A (p.Glu965Lys) | |
7 | g.117610666G>C | CA368990858 | CFTR | c.3136G>C (p.Glu1046Gln) c.*2850G>C (n.*2850G>C) c.2953G>C (p.Glu985Gln) c.*1436G>C (n.*1436G>C) c.*2960G>C (n.*2960G>C) c.2710G>C (p.Glu904Gln) c.727G>C (p.Glu243Gln) c.786G>C c.1918G>C (p.Glu640Gln) c.3046G>C (p.Glu1016Gln) c.3226G>C (p.Glu1076Gln) c.2893G>C (p.Glu965Gln) | |
7 | g.117610666G>T | CA368990857 | CFTR | c.3136G>T (p.Glu1046Ter) c.*2850G>T (n.*2850G>T) c.2953G>T (p.Glu985Ter) c.*1436G>T (n.*1436G>T) c.*2960G>T (n.*2960G>T) c.2710G>T (p.Glu904Ter) c.727G>T (p.Glu243Ter) c.786G>T c.1918G>T (p.Glu640Ter) c.3046G>T (p.Glu1016Ter) c.3226G>T (p.Glu1076Ter) c.2893G>T (p.Glu965Ter) | |
7 | g.117610667A>C | CA368990860 | CFTR | c.3137A>C (p.Glu1046Ala) c.*2851A>C (n.*2851A>C) c.2954A>C (p.Glu985Ala) c.*1437A>C (n.*1437A>C) c.*2961A>C (n.*2961A>C) c.2711A>C (p.Glu904Ala) c.728A>C (p.Glu243Ala) c.787A>C c.1919A>C (p.Glu640Ala) c.3047A>C (p.Glu1016Ala) c.3227A>C (p.Glu1076Ala) c.2894A>C (p.Glu965Ala) | |
7 | g.117610667A>G | CA368990862 | CFTR | c.3137A>G (p.Glu1046Gly) c.*2851A>G (n.*2851A>G) c.2954A>G (p.Glu985Gly) c.*1437A>G (n.*1437A>G) c.*2961A>G (n.*2961A>G) c.2711A>G (p.Glu904Gly) c.728A>G (p.Glu243Gly) c.787A>G c.1919A>G (p.Glu640Gly) c.3047A>G (p.Glu1016Gly) c.3227A>G (p.Glu1076Gly) c.2894A>G (p.Glu965Gly) | |
7 | g.117610667A>T | CA368990861 | CFTR | c.3137A>T (p.Glu1046Val) c.*2851A>T (n.*2851A>T) c.2954A>T (p.Glu985Val) c.*1437A>T (n.*1437A>T) c.*2961A>T (n.*2961A>T) c.2711A>T (p.Glu904Val) c.728A>T (p.Glu243Val) c.787A>T c.1919A>T (p.Glu640Val) c.3047A>T (p.Glu1016Val) c.3227A>T (p.Glu1076Val) c.2894A>T (p.Glu965Val) | gnomAD v4 |
7 | g.117610668A= | CA1737385277 | CFTR | c.3138A= (p.Glu1046=) c.*2852A= (n.*2852A=) c.2955A= (p.Glu985=) c.*1438A= (n.*1438A=) c.*2962A= (n.*2962A=) c.2712A= (p.Glu904=) c.729A= (p.Glu243=) c.788A= c.1920A= (p.Glu640=) c.3048A= (p.Glu1016=) c.3228A= (p.Glu1076=) c.2895A= (p.Glu965=) | |
7 | g.117610668A>C | CA368990863 | CFTR | c.3138A>C (p.Glu1046Asp) c.*2852A>C (n.*2852A>C) c.2955A>C (p.Glu985Asp) c.*1438A>C (n.*1438A>C) c.*2962A>C (n.*2962A>C) c.2712A>C (p.Glu904Asp) c.729A>C (p.Glu243Asp) c.788A>C c.1920A>C (p.Glu640Asp) c.3048A>C (p.Glu1016Asp) c.3228A>C (p.Glu1076Asp) c.2895A>C (p.Glu965Asp) | |
7 | g.117610668A>G | CA457229601 | CFTR | c.3138A>G (p.Glu1046=) c.*2852A>G (n.*2852A>G) c.2955A>G (p.Glu985=) c.*1438A>G (n.*1438A>G) c.*2962A>G (n.*2962A>G) c.2712A>G (p.Glu904=) c.729A>G (p.Glu243=) c.788A>G c.1920A>G (p.Glu640=) c.3048A>G (p.Glu1016=) c.3228A>G (p.Glu1076=) c.2895A>G (p.Glu965=) | |
7 | g.117610668A>T | CA368990864 | CFTR | c.3138A>T (p.Glu1046Asp) c.*2852A>T (n.*2852A>T) c.2955A>T (p.Glu985Asp) c.*1438A>T (n.*1438A>T) c.*2962A>T (n.*2962A>T) c.2712A>T (p.Glu904Asp) c.729A>T (p.Glu243Asp) c.788A>T c.1920A>T (p.Glu640Asp) c.3048A>T (p.Glu1016Asp) c.3228A>T (p.Glu1076Asp) c.2895A>T (p.Glu965Asp) | |
7 | g.117610668_117610669delinsAG | CA1737385274 | CFTR | c.3138_3139delinsAG (p.Glu1046=) c.*2852_*2853delinsAG (n.*2852_*2853delinsAG) c.2955_2956delinsAG (p.Glu985=) c.*1438_*1439delinsAG (n.*1438_*1439delinsAG) c.*2962_*2963delinsAG (n.*2962_*2963delinsAG) c.2712_2713delinsAG (p.Glu904=) c.729_730delinsAG (p.Glu243=) c.788_789delinsAG c.1920_1921delinsAG (p.Glu640=) c.3048_3049delinsAG (p.Glu1016=) c.3228_3229delinsAG (p.Glu1076=) c.2895_2896delinsAG (p.Glu965=) | |
7 | g.117610668_117610670delinsAGG | CA1737385272 | CFTR | c.3138_3139+1delinsAGG c.*2852_*2853+1delinsAGG c.2955_2956+1delinsAGG c.*1438_*1439+1delinsAGG c.*2962_*2963+1delinsAGG c.2712_2713+1delinsAGG c.729_730+1delinsAGG c.788_789+1delinsAGG c.1920_1921+1delinsAGG c.3048_3049+1delinsAGG c.3228_3229+1delinsAGG c.2895_2896+1delinsAGG | |
7 | g.117610668_117610669insAACATGTT | CA1737385292 | CFTR | c.3138_3139insAACATGTT (p.Gly1047AsnfsTer16) c.*2852_*2853insAACATGTT (n.*2852_*2853insAACATGTT) c.2955_2956insAACATGTT (p.Gly986AsnfsTer16) c.*1438_*1439insAACATGTT (n.*1438_*1439insAACATGTT) c.*2962_*2963insAACATGTT (n.*2962_*2963insAACATGTT) c.2712_2713insAACATGTT (p.Gly905AsnfsTer16) c.729_730insAACATGTT (p.Gly244AsnfsTer16) c.788_789insAACATGTT c.1920_1921insAACATGTT (p.Gly641AsnfsTer16) c.3048_3049insAACATGTT (p.Gly1017AsnfsTer16) c.3228_3229insAACATGTT (p.Gly1077AsnfsTer16) c.2895_2896insAACATGTT (p.Gly966AsnfsTer16) | dbSNP |
7 | g.117610669G>A | CA368990865 | CFTR | c.3139G>A (p.Gly1047Ser) c.*2853G>A (n.*2853G>A) c.2956G>A (p.Gly986Ser) c.*1439G>A (n.*1439G>A) c.*2963G>A (n.*2963G>A) c.2713G>A (p.Gly905Ser) c.730G>A (p.Gly244Ser) c.789G>A c.1921G>A (p.Gly641Ser) c.3049G>A (p.Gly1017Ser) c.3229G>A (p.Gly1077Ser) c.2896G>A (p.Gly966Ser) | ClinVar dbSNP |
7 | g.117610669G>C | CA327056 | CFTR | c.3139G>C (p.Gly1047Arg) c.*2853G>C (n.*2853G>C) c.2956G>C (p.Gly986Arg) c.*1439G>C (n.*1439G>C) c.*2963G>C (n.*2963G>C) c.2713G>C (p.Gly905Arg) c.730G>C (p.Gly244Arg) c.789G>C c.1921G>C (p.Gly641Arg) c.3049G>C (p.Gly1017Arg) c.3229G>C (p.Gly1077Arg) c.2896G>C (p.Gly966Arg) | ClinVar dbSNP |
7 | g.117610669G= | CA1737385293 | CFTR | c.3139G= (p.Gly1047=) c.*2853G= (n.*2853G=) c.2956G= (p.Gly986=) c.*1439G= (n.*1439G=) c.*2963G= (n.*2963G=) c.2713G= (p.Gly905=) c.730G= (p.Gly244=) c.789G= c.1921G= (p.Gly641=) c.3049G= (p.Gly1017=) c.3229G= (p.Gly1077=) c.2896G= (p.Gly966=) | |
7 | g.117610669G>T | CA10604591 | CFTR | c.3139G>T (p.Gly1047Cys) c.*2853G>T (n.*2853G>T) c.2956G>T (p.Gly986Cys) c.*1439G>T (n.*1439G>T) c.*2963G>T (n.*2963G>T) c.2713G>T (p.Gly905Cys) c.730G>T (p.Gly244Cys) c.789G>T c.1921G>T (p.Gly641Cys) c.3049G>T (p.Gly1017Cys) c.3229G>T (p.Gly1077Cys) c.2896G>T (p.Gly966Cys) | ClinVar dbSNP |
7 | g.117610669_117610670del | CA327058 | CFTR | c.3139_3139+1del c.*2853_*2853+1del c.2956_2956+1del c.*1439_*1439+1del c.*2963_*2963+1del c.2713_2713+1del c.730_730+1del c.789_789+1del c.1921_1921+1del c.3049_3049+1del c.3229_3229+1del c.2896_2896+1del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117610670del | CA4451380 | CFTR | c.3139+1del c.*2853+1del c.2956+1del c.*1439+1del c.*2963+1del c.2713+1del c.730+1del c.789+1del c.1921+1del c.3049+1del c.3229+1del c.2896+1del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117610670G>A | CA327054 | CFTR | c.3139+1G>A (n.3139+1G>A) c.*2853+1G>A (n.*2853+1G>A) c.2956+1G>A (n.2956+1G>A) c.*1439+1G>A (n.*1439+1G>A) c.*2963+1G>A (n.*2963+1G>A) c.2713+1G>A (n.2713+1G>A) c.730+1G>A (n.730+1G>A) c.789+1G>A c.1921+1G>A (n.1921+1G>A) c.3049+1G>A (n.3049+1G>A) c.3229+1G>A (n.3229+1G>A) c.2896+1G>A (n.2896+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117610670G>C | CA368990866 | CFTR | c.3139+1G>C (n.3139+1G>C) c.*2853+1G>C (n.*2853+1G>C) c.2956+1G>C (n.2956+1G>C) c.*1439+1G>C (n.*1439+1G>C) c.*2963+1G>C (n.*2963+1G>C) c.2713+1G>C (n.2713+1G>C) c.730+1G>C (n.730+1G>C) c.789+1G>C c.1921+1G>C (n.1921+1G>C) c.3049+1G>C (n.3049+1G>C) c.3229+1G>C (n.3229+1G>C) c.2896+1G>C (n.2896+1G>C) | |
7 | g.117610670G= | CA1737385318 | CFTR | c.3139+1G= (n.3139+1G=) c.*2853+1G= (n.*2853+1G=) c.2956+1G= (n.2956+1G=) c.*1439+1G= (n.*1439+1G=) c.*2963+1G= (n.*2963+1G=) c.2713+1G= (n.2713+1G=) c.730+1G= (n.730+1G=) c.789+1G= c.1921+1G= (n.1921+1G=) c.3049+1G= (n.3049+1G=) c.3229+1G= (n.3229+1G=) c.2896+1G= (n.2896+1G=) | |
7 | g.117610670G>T | CA327055 | CFTR | c.3139+1G>T (n.3139+1G>T) c.*2853+1G>T (n.*2853+1G>T) c.2956+1G>T (n.2956+1G>T) c.*1439+1G>T (n.*1439+1G>T) c.*2963+1G>T (n.*2963+1G>T) c.2713+1G>T (n.2713+1G>T) c.730+1G>T (n.730+1G>T) c.789+1G>T c.1921+1G>T (n.1921+1G>T) c.3049+1G>T (n.3049+1G>T) c.3229+1G>T (n.3229+1G>T) c.2896+1G>T (n.2896+1G>T) | ClinVar dbSNP gnomAD v4 |
7 | g.117610671T>A | CA368990869 | CFTR | c.3139+2T>A (n.3139+2T>A) c.*2853+2T>A (n.*2853+2T>A) c.2956+2T>A (n.2956+2T>A) c.*1439+2T>A (n.*1439+2T>A) c.*2963+2T>A (n.*2963+2T>A) c.2713+2T>A (n.2713+2T>A) c.730+2T>A (n.730+2T>A) c.789+2T>A c.1921+2T>A (n.1921+2T>A) c.3049+2T>A (n.3049+2T>A) c.3229+2T>A (n.3229+2T>A) c.2896+2T>A (n.2896+2T>A) | |
7 | g.117610671T>C | CA368990868 | CFTR | c.3139+2T>C (n.3139+2T>C) c.*2853+2T>C (n.*2853+2T>C) c.2956+2T>C (n.2956+2T>C) c.*1439+2T>C (n.*1439+2T>C) c.*2963+2T>C (n.*2963+2T>C) c.2713+2T>C (n.2713+2T>C) c.730+2T>C (n.730+2T>C) c.789+2T>C c.1921+2T>C (n.1921+2T>C) c.3049+2T>C (n.3049+2T>C) c.3229+2T>C (n.3229+2T>C) c.2896+2T>C (n.2896+2T>C) | |
7 | g.117610671T>G | CA368990867 | CFTR | c.3139+2T>G (n.3139+2T>G) c.*2853+2T>G (n.*2853+2T>G) c.2956+2T>G (n.2956+2T>G) c.*1439+2T>G (n.*1439+2T>G) c.*2963+2T>G (n.*2963+2T>G) c.2713+2T>G (n.2713+2T>G) c.730+2T>G (n.730+2T>G) c.789+2T>G c.1921+2T>G (n.1921+2T>G) c.3049+2T>G (n.3049+2T>G) c.3229+2T>G (n.3229+2T>G) c.2896+2T>G (n.2896+2T>G) | |
7 | g.117610672A= | CA1737385324 | CFTR | c.3139+3A= (n.3139+3A=) c.*2853+3A= (n.*2853+3A=) c.2956+3A= (n.2956+3A=) c.*1439+3A= (n.*1439+3A=) c.*2963+3A= (n.*2963+3A=) c.2713+3A= (n.2713+3A=) c.730+3A= (n.730+3A=) c.789+3A= c.1921+3A= (n.1921+3A=) c.3049+3A= (n.3049+3A=) c.3229+3A= (n.3229+3A=) c.2896+3A= (n.2896+3A=) | |
7 | g.117610672A>G | CA164965463 | CFTR | c.3139+3A>G (n.3139+3A>G) c.*2853+3A>G (n.*2853+3A>G) c.2956+3A>G (n.2956+3A>G) c.*1439+3A>G (n.*1439+3A>G) c.*2963+3A>G (n.*2963+3A>G) c.2713+3A>G (n.2713+3A>G) c.730+3A>G (n.730+3A>G) c.789+3A>G c.1921+3A>G (n.1921+3A>G) c.3049+3A>G (n.3049+3A>G) c.3229+3A>G (n.3229+3A>G) c.2896+3A>G (n.2896+3A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117610673T>C | CA2579000230 | CFTR | c.3139+4T>C (n.3139+4T>C) c.*2853+4T>C (n.*2853+4T>C) c.2956+4T>C (n.2956+4T>C) c.*1439+4T>C (n.*1439+4T>C) c.*2963+4T>C (n.*2963+4T>C) c.2713+4T>C (n.2713+4T>C) c.730+4T>C (n.730+4T>C) c.789+4T>C c.1921+4T>C (n.1921+4T>C) c.3049+4T>C (n.3049+4T>C) c.3229+4T>C (n.3229+4T>C) c.2896+4T>C (n.2896+4T>C) | gnomAD v4 |
7 | g.117610674G>T | CA2684588299 | CFTR | c.3139+5G>T (n.3139+5G>T) c.*2853+5G>T (n.*2853+5G>T) c.2956+5G>T (n.2956+5G>T) c.*1439+5G>T (n.*1439+5G>T) c.*2963+5G>T (n.*2963+5G>T) c.2713+5G>T (n.2713+5G>T) c.730+5G>T (n.730+5G>T) c.789+5G>T c.1921+5G>T (n.1921+5G>T) c.3049+5G>T (n.3049+5G>T) c.3229+5G>T (n.3229+5G>T) c.2896+5G>T (n.2896+5G>T) | gnomAD v4 |
7 | g.117610676C>A | CA164965471 | CFTR | c.3139+7C>A (n.3139+7C>A) c.*2853+7C>A (n.*2853+7C>A) c.2956+7C>A (n.2956+7C>A) c.*1439+7C>A (n.*1439+7C>A) c.*2963+7C>A (n.*2963+7C>A) c.2713+7C>A (n.2713+7C>A) c.730+7C>A (n.730+7C>A) c.789+7C>A c.1921+7C>A (n.1921+7C>A) c.3049+7C>A (n.3049+7C>A) c.3229+7C>A (n.3229+7C>A) c.2896+7C>A (n.2896+7C>A) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117610676C= | CA1737385333 | CFTR | c.3139+7C= (n.3139+7C=) c.*2853+7C= (n.*2853+7C=) c.2956+7C= (n.2956+7C=) c.*1439+7C= (n.*1439+7C=) c.*2963+7C= (n.*2963+7C=) c.2713+7C= (n.2713+7C=) c.730+7C= (n.730+7C=) c.789+7C= c.1921+7C= (n.1921+7C=) c.3049+7C= (n.3049+7C=) c.3229+7C= (n.3229+7C=) c.2896+7C= (n.2896+7C=) | |
7 | g.117610677A= | CA1737385338 | CFTR | c.3139+8A= (n.3139+8A=) c.*2853+8A= (n.*2853+8A=) c.2956+8A= (n.2956+8A=) c.*1439+8A= (n.*1439+8A=) c.*2963+8A= (n.*2963+8A=) c.2713+8A= (n.2713+8A=) c.730+8A= (n.730+8A=) c.789+8A= c.1921+8A= (n.1921+8A=) c.3049+8A= (n.3049+8A=) c.3229+8A= (n.3229+8A=) c.2896+8A= (n.2896+8A=) | |
7 | g.117610677A>G | CA260234 | CFTR | c.3139+8A>G (n.3139+8A>G) c.*2853+8A>G (n.*2853+8A>G) c.2956+8A>G (n.2956+8A>G) c.*1439+8A>G (n.*1439+8A>G) c.*2963+8A>G (n.*2963+8A>G) c.2713+8A>G (n.2713+8A>G) c.730+8A>G (n.730+8A>G) c.789+8A>G c.1921+8A>G (n.1921+8A>G) c.3049+8A>G (n.3049+8A>G) c.3229+8A>G (n.3229+8A>G) c.2896+8A>G (n.2896+8A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117610677_117610678delinsAG | CA1737385341 | CFTR | c.3139+8_3139+9delinsAG (n.3139+8_3139+9delinsAG) c.*2853+8_*2853+9delinsAG (n.*2853+8_*2853+9delinsAG) c.2956+8_2956+9delinsAG (n.2956+8_2956+9delinsAG) c.*1439+8_*1439+9delinsAG (n.*1439+8_*1439+9delinsAG) c.*2963+8_*2963+9delinsAG (n.*2963+8_*2963+9delinsAG) c.2713+8_2713+9delinsAG (n.2713+8_2713+9delinsAG) c.730+8_730+9delinsAG (n.730+8_730+9delinsAG) c.789+8_789+9delinsAG c.1921+8_1921+9delinsAG (n.1921+8_1921+9delinsAG) c.3049+8_3049+9delinsAG (n.3049+8_3049+9delinsAG) c.3229+8_3229+9delinsAG (n.3229+8_3229+9delinsAG) c.2896+8_2896+9delinsAG (n.2896+8_2896+9delinsAG) | |
7 | g.117610678del | CA4451381 | CFTR | c.3139+9del (n.3139+9del) c.*2853+9del (n.*2853+9del) c.2956+9del (n.2956+9del) c.*1439+9del (n.*1439+9del) c.*2963+9del (n.*2963+9del) c.2713+9del (n.2713+9del) c.730+9del (n.730+9del) c.789+9del c.1921+9del (n.1921+9del) c.3049+9del (n.3049+9del) c.3229+9del (n.3229+9del) c.2896+9del (n.2896+9del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117610678G>T | CA2573141587 | CFTR | c.3139+9G>T (n.3139+9G>T) c.*2853+9G>T (n.*2853+9G>T) c.2956+9G>T (n.2956+9G>T) c.*1439+9G>T (n.*1439+9G>T) c.*2963+9G>T (n.*2963+9G>T) c.2713+9G>T (n.2713+9G>T) c.730+9G>T (n.730+9G>T) c.789+9G>T c.1921+9G>T (n.1921+9G>T) c.3049+9G>T (n.3049+9G>T) c.3229+9G>T (n.3229+9G>T) c.2896+9G>T (n.2896+9G>T) | ClinVar dbSNP |
7 | g.117610679T>C | CA2580076350 | CFTR | c.3139+10T>C (n.3139+10T>C) c.*2853+10T>C (n.*2853+10T>C) c.2956+10T>C (n.2956+10T>C) c.*1439+10T>C (n.*1439+10T>C) c.*2963+10T>C (n.*2963+10T>C) c.2713+10T>C (n.2713+10T>C) c.730+10T>C (n.730+10T>C) c.789+10T>C c.1921+10T>C (n.1921+10T>C) c.3049+10T>C (n.3049+10T>C) c.3229+10T>C (n.3229+10T>C) c.2896+10T>C (n.2896+10T>C) | ClinVar |
7 | g.117610680G>C | CA4451382 | CFTR | c.3139+11G>C (n.3139+11G>C) c.*2853+11G>C (n.*2853+11G>C) c.2956+11G>C (n.2956+11G>C) c.*1439+11G>C (n.*1439+11G>C) c.*2963+11G>C (n.*2963+11G>C) c.2713+11G>C (n.2713+11G>C) c.730+11G>C (n.730+11G>C) c.789+11G>C c.1921+11G>C (n.1921+11G>C) c.3049+11G>C (n.3049+11G>C) c.3229+11G>C (n.3229+11G>C) c.2896+11G>C (n.2896+11G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117610680G= | CA1737385350 | CFTR | c.3139+11G= (n.3139+11G=) c.*2853+11G= (n.*2853+11G=) c.2956+11G= (n.2956+11G=) c.*1439+11G= (n.*1439+11G=) c.*2963+11G= (n.*2963+11G=) c.2713+11G= (n.2713+11G=) c.730+11G= (n.730+11G=) c.789+11G= c.1921+11G= (n.1921+11G=) c.3049+11G= (n.3049+11G=) c.3229+11G= (n.3229+11G=) c.2896+11G= (n.2896+11G=) | |
7 | g.117610681A= | CA1737385361 | CFTR | c.3139+12A= (n.3139+12A=) c.*2853+12A= (n.*2853+12A=) c.2956+12A= (n.2956+12A=) c.*1439+12A= (n.*1439+12A=) c.*2963+12A= (n.*2963+12A=) c.2713+12A= (n.2713+12A=) c.730+12A= (n.730+12A=) c.789+12A= c.1921+12A= (n.1921+12A=) c.3049+12A= (n.3049+12A=) c.3229+12A= (n.3229+12A=) c.2896+12A= (n.2896+12A=) | |
7 | g.117610681A>C | CA1106311502 | CFTR | c.3139+12A>C (n.3139+12A>C) c.*2853+12A>C (n.*2853+12A>C) c.2956+12A>C (n.2956+12A>C) c.*1439+12A>C (n.*1439+12A>C) c.*2963+12A>C (n.*2963+12A>C) c.2713+12A>C (n.2713+12A>C) c.730+12A>C (n.730+12A>C) c.789+12A>C c.1921+12A>C (n.1921+12A>C) c.3049+12A>C (n.3049+12A>C) c.3229+12A>C (n.3229+12A>C) c.2896+12A>C (n.2896+12A>C) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117610681A>G | CA577680837 | CFTR | c.3139+12A>G (n.3139+12A>G) c.*2853+12A>G (n.*2853+12A>G) c.2956+12A>G (n.2956+12A>G) c.*1439+12A>G (n.*1439+12A>G) c.*2963+12A>G (n.*2963+12A>G) c.2713+12A>G (n.2713+12A>G) c.730+12A>G (n.730+12A>G) c.789+12A>G c.1921+12A>G (n.1921+12A>G) c.3049+12A>G (n.3049+12A>G) c.3229+12A>G (n.3229+12A>G) c.2896+12A>G (n.2896+12A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117610683T>C | CA2684588300 | CFTR | c.3139+14T>C (n.3139+14T>C) c.*2853+14T>C (n.*2853+14T>C) c.2956+14T>C (n.2956+14T>C) c.*1439+14T>C (n.*1439+14T>C) c.*2963+14T>C (n.*2963+14T>C) c.2713+14T>C (n.2713+14T>C) c.730+14T>C (n.730+14T>C) c.789+14T>C c.1921+14T>C (n.1921+14T>C) c.3049+14T>C (n.3049+14T>C) c.3229+14T>C (n.3229+14T>C) c.2896+14T>C (n.2896+14T>C) | gnomAD v4 |
7 | g.117610684G>A | CA2684588301 | CFTR | c.3139+15G>A (n.3139+15G>A) c.*2853+15G>A (n.*2853+15G>A) c.2956+15G>A (n.2956+15G>A) c.*1439+15G>A (n.*1439+15G>A) c.*2963+15G>A (n.*2963+15G>A) c.2713+15G>A (n.2713+15G>A) c.730+15G>A (n.730+15G>A) c.789+15G>A c.1921+15G>A (n.1921+15G>A) c.3049+15G>A (n.3049+15G>A) c.3229+15G>A (n.3229+15G>A) c.2896+15G>A (n.2896+15G>A) | gnomAD v4 |
7 | g.117610685T>A | CA577680838 | CFTR | c.3139+16T>A (n.3139+16T>A) c.*2853+16T>A (n.*2853+16T>A) c.2956+16T>A (n.2956+16T>A) c.*1439+16T>A (n.*1439+16T>A) c.*2963+16T>A (n.*2963+16T>A) c.2713+16T>A (n.2713+16T>A) c.730+16T>A (n.730+16T>A) c.789+16T>A c.1921+16T>A (n.1921+16T>A) c.3049+16T>A (n.3049+16T>A) c.3229+16T>A (n.3229+16T>A) c.2896+16T>A (n.2896+16T>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117610685T= | CA1737385365 | CFTR | c.3139+16T= (n.3139+16T=) c.*2853+16T= (n.*2853+16T=) c.2956+16T= (n.2956+16T=) c.*1439+16T= (n.*1439+16T=) c.*2963+16T= (n.*2963+16T=) c.2713+16T= (n.2713+16T=) c.730+16T= (n.730+16T=) c.789+16T= c.1921+16T= (n.1921+16T=) c.3049+16T= (n.3049+16T=) c.3229+16T= (n.3229+16T=) c.2896+16T= (n.2896+16T=) | |
7 | g.117610686G>A | CA2684588302 | CFTR | c.3139+17G>A (n.3139+17G>A) c.*2853+17G>A (n.*2853+17G>A) c.2956+17G>A (n.2956+17G>A) c.*1439+17G>A (n.*1439+17G>A) c.*2963+17G>A (n.*2963+17G>A) c.2713+17G>A (n.2713+17G>A) c.730+17G>A (n.730+17G>A) c.789+17G>A c.1921+17G>A (n.1921+17G>A) c.3049+17G>A (n.3049+17G>A) c.3229+17G>A (n.3229+17G>A) c.2896+17G>A (n.2896+17G>A) | ClinVar gnomAD v4 |
7 | g.117610686G= | CA1737385367 | CFTR | c.3139+17G= (n.3139+17G=) c.*2853+17G= (n.*2853+17G=) c.2956+17G= (n.2956+17G=) c.*1439+17G= (n.*1439+17G=) c.*2963+17G= (n.*2963+17G=) c.2713+17G= (n.2713+17G=) c.730+17G= (n.730+17G=) c.789+17G= c.1921+17G= (n.1921+17G=) c.3049+17G= (n.3049+17G=) c.3229+17G= (n.3229+17G=) c.2896+17G= (n.2896+17G=) | |
7 | g.117610686G>T | CA1737385369 | CFTR | c.3139+17G>T (n.3139+17G>T) c.*2853+17G>T (n.*2853+17G>T) c.2956+17G>T (n.2956+17G>T) c.*1439+17G>T (n.*1439+17G>T) c.*2963+17G>T (n.*2963+17G>T) c.2713+17G>T (n.2713+17G>T) c.730+17G>T (n.730+17G>T) c.789+17G>T c.1921+17G>T (n.1921+17G>T) c.3049+17G>T (n.3049+17G>T) c.3229+17G>T (n.3229+17G>T) c.2896+17G>T (n.2896+17G>T) | ClinVar dbSNP |
7 | g.117610687C>A | CA2838159078 | CFTR | c.3139+18C>A (n.3139+18C>A) c.*2853+18C>A (n.*2853+18C>A) c.2956+18C>A (n.2956+18C>A) c.*1439+18C>A (n.*1439+18C>A) c.*2963+18C>A (n.*2963+18C>A) c.2713+18C>A (n.2713+18C>A) c.730+18C>A (n.730+18C>A) c.789+18C>A c.1921+18C>A (n.1921+18C>A) c.3049+18C>A (n.3049+18C>A) c.3229+18C>A (n.3229+18C>A) c.2896+18C>A (n.2896+18C>A) | |
7 | g.117610687C= | CA1737385375 | CFTR | c.3139+18C= (n.3139+18C=) c.*2853+18C= (n.*2853+18C=) c.2956+18C= (n.2956+18C=) c.*1439+18C= (n.*1439+18C=) c.*2963+18C= (n.*2963+18C=) c.2713+18C= (n.2713+18C=) c.730+18C= (n.730+18C=) c.789+18C= c.1921+18C= (n.1921+18C=) c.3049+18C= (n.3049+18C=) c.3229+18C= (n.3229+18C=) c.2896+18C= (n.2896+18C=) | |
7 | g.117610687C>G | CA2838159077 | CFTR | c.3139+18C>G (n.3139+18C>G) c.*2853+18C>G (n.*2853+18C>G) c.2956+18C>G (n.2956+18C>G) c.*1439+18C>G (n.*1439+18C>G) c.*2963+18C>G (n.*2963+18C>G) c.2713+18C>G (n.2713+18C>G) c.730+18C>G (n.730+18C>G) c.789+18C>G c.1921+18C>G (n.1921+18C>G) c.3049+18C>G (n.3049+18C>G) c.3229+18C>G (n.3229+18C>G) c.2896+18C>G (n.2896+18C>G) | |
7 | g.117610687C>T | CA260233 | CFTR | c.3139+18C>T (n.3139+18C>T) c.*2853+18C>T (n.*2853+18C>T) c.2956+18C>T (n.2956+18C>T) c.*1439+18C>T (n.*1439+18C>T) c.*2963+18C>T (n.*2963+18C>T) c.2713+18C>T (n.2713+18C>T) c.730+18C>T (n.730+18C>T) c.789+18C>T c.1921+18C>T (n.1921+18C>T) c.3049+18C>T (n.3049+18C>T) c.3229+18C>T (n.3229+18C>T) c.2896+18C>T (n.2896+18C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117610688G>A | CA4451383 | CFTR | c.3139+19G>A (n.3139+19G>A) c.*2853+19G>A (n.*2853+19G>A) c.2956+19G>A (n.2956+19G>A) c.*1439+19G>A (n.*1439+19G>A) c.*2963+19G>A (n.*2963+19G>A) c.2713+19G>A (n.2713+19G>A) c.730+19G>A (n.730+19G>A) c.789+19G>A c.1921+19G>A (n.1921+19G>A) c.3049+19G>A (n.3049+19G>A) c.3229+19G>A (n.3229+19G>A) c.2896+19G>A (n.2896+19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117610688G= | CA1737385382 | CFTR | c.3139+19G= (n.3139+19G=) c.*2853+19G= (n.*2853+19G=) c.2956+19G= (n.2956+19G=) c.*1439+19G= (n.*1439+19G=) c.*2963+19G= (n.*2963+19G=) c.2713+19G= (n.2713+19G=) c.730+19G= (n.730+19G=) c.789+19G= c.1921+19G= (n.1921+19G=) c.3049+19G= (n.3049+19G=) c.3229+19G= (n.3229+19G=) c.2896+19G= (n.2896+19G=) | |
7 | g.117610689A= | CA1737385386 | CFTR | c.3139+20A= (n.3139+20A=) c.*2853+20A= (n.*2853+20A=) c.2956+20A= (n.2956+20A=) c.*1439+20A= (n.*1439+20A=) c.*2963+20A= (n.*2963+20A=) c.2713+20A= (n.2713+20A=) c.730+20A= (n.730+20A=) c.789+20A= c.1921+20A= (n.1921+20A=) c.3049+20A= (n.3049+20A=) c.3229+20A= (n.3229+20A=) c.2896+20A= (n.2896+20A=) | |
7 | g.117610689A>G | CA2684588303 | CFTR | c.3139+20A>G (n.3139+20A>G) c.*2853+20A>G (n.*2853+20A>G) c.2956+20A>G (n.2956+20A>G) c.*1439+20A>G (n.*1439+20A>G) c.*2963+20A>G (n.*2963+20A>G) c.2713+20A>G (n.2713+20A>G) c.730+20A>G (n.730+20A>G) c.789+20A>G c.1921+20A>G (n.1921+20A>G) c.3049+20A>G (n.3049+20A>G) c.3229+20A>G (n.3229+20A>G) c.2896+20A>G (n.2896+20A>G) | gnomAD v4 |
7 | g.117610689A>T | CA1737385387 | CFTR | c.3139+20A>T (n.3139+20A>T) c.*2853+20A>T (n.*2853+20A>T) c.2956+20A>T (n.2956+20A>T) c.*1439+20A>T (n.*1439+20A>T) c.*2963+20A>T (n.*2963+20A>T) c.2713+20A>T (n.2713+20A>T) c.730+20A>T (n.730+20A>T) c.789+20A>T c.1921+20A>T (n.1921+20A>T) c.3049+20A>T (n.3049+20A>T) c.3229+20A>T (n.3229+20A>T) c.2896+20A>T (n.2896+20A>T) | dbSNP |
7 | g.117610690T>A | CA1737385392 | CFTR | c.3139+21T>A (n.3139+21T>A) c.*2853+21T>A (n.*2853+21T>A) c.2956+21T>A (n.2956+21T>A) c.*1439+21T>A (n.*1439+21T>A) c.*2963+21T>A (n.*2963+21T>A) c.2713+21T>A (n.2713+21T>A) c.730+21T>A (n.730+21T>A) c.789+21T>A c.1921+21T>A (n.1921+21T>A) c.3049+21T>A (n.3049+21T>A) c.3229+21T>A (n.3229+21T>A) c.2896+21T>A (n.2896+21T>A) | dbSNP gnomAD v4 |
7 | g.117610690T>C | CA2684588304 | CFTR | c.3139+21T>C (n.3139+21T>C) c.*2853+21T>C (n.*2853+21T>C) c.2956+21T>C (n.2956+21T>C) c.*1439+21T>C (n.*1439+21T>C) c.*2963+21T>C (n.*2963+21T>C) c.2713+21T>C (n.2713+21T>C) c.730+21T>C (n.730+21T>C) c.789+21T>C c.1921+21T>C (n.1921+21T>C) c.3049+21T>C (n.3049+21T>C) c.3229+21T>C (n.3229+21T>C) c.2896+21T>C (n.2896+21T>C) | gnomAD v4 |
7 | g.117610690T= | CA1737385390 | CFTR | c.3139+21T= (n.3139+21T=) c.*2853+21T= (n.*2853+21T=) c.2956+21T= (n.2956+21T=) c.*1439+21T= (n.*1439+21T=) c.*2963+21T= (n.*2963+21T=) c.2713+21T= (n.2713+21T=) c.730+21T= (n.730+21T=) c.789+21T= c.1921+21T= (n.1921+21T=) c.3049+21T= (n.3049+21T=) c.3229+21T= (n.3229+21T=) c.2896+21T= (n.2896+21T=) | |
7 | g.117610691A>C | CA2684588305 | CFTR | c.3139+22A>C (n.3139+22A>C) c.*2853+22A>C (n.*2853+22A>C) c.2956+22A>C (n.2956+22A>C) c.*1439+22A>C (n.*1439+22A>C) c.*2963+22A>C (n.*2963+22A>C) c.2713+22A>C (n.2713+22A>C) c.730+22A>C (n.730+22A>C) c.789+22A>C c.1921+22A>C (n.1921+22A>C) c.3049+22A>C (n.3049+22A>C) c.3229+22A>C (n.3229+22A>C) c.2896+22A>C (n.2896+22A>C) | gnomAD v4 |
7 | g.117610692C= | CA1737385398 | CFTR | c.3139+23C= (n.3139+23C=) c.*2853+23C= (n.*2853+23C=) c.2956+23C= (n.2956+23C=) c.*1439+23C= (n.*1439+23C=) c.*2963+23C= (n.*2963+23C=) c.2713+23C= (n.2713+23C=) c.730+23C= (n.730+23C=) c.789+23C= c.1921+23C= (n.1921+23C=) c.3049+23C= (n.3049+23C=) c.3229+23C= (n.3229+23C=) c.2896+23C= (n.2896+23C=) | |
7 | g.117610692C>G | CA2684588306 | CFTR | c.3139+23C>G (n.3139+23C>G) c.*2853+23C>G (n.*2853+23C>G) c.2956+23C>G (n.2956+23C>G) c.*1439+23C>G (n.*1439+23C>G) c.*2963+23C>G (n.*2963+23C>G) c.2713+23C>G (n.2713+23C>G) c.730+23C>G (n.730+23C>G) c.789+23C>G c.1921+23C>G (n.1921+23C>G) c.3049+23C>G (n.3049+23C>G) c.3229+23C>G (n.3229+23C>G) c.2896+23C>G (n.2896+23C>G) | gnomAD v4 |
7 | g.117610692C>T | CA164965514 | CFTR | c.3139+23C>T (n.3139+23C>T) c.*2853+23C>T (n.*2853+23C>T) c.2956+23C>T (n.2956+23C>T) c.*1439+23C>T (n.*1439+23C>T) c.*2963+23C>T (n.*2963+23C>T) c.2713+23C>T (n.2713+23C>T) c.730+23C>T (n.730+23C>T) c.789+23C>T c.1921+23C>T (n.1921+23C>T) c.3049+23C>T (n.3049+23C>T) c.3229+23C>T (n.3229+23C>T) c.2896+23C>T (n.2896+23C>T) | dbSNP gnomAD v4 |