| 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.117610527_117610530del | CA327000 | CFTR | c.2997_3000del (p.Ile1000Ter) c.*2711_*2714del (n.*2711_*2714del) c.2814_2817del (p.Ile939Ter) c.*1297_*1300del (n.*1297_*1300del) c.*2821_*2824del (n.*2821_*2824del) c.2571_2574del (p.Ile858Ter) c.588_591del (p.Ile197Ter) c.647_650del c.1779_1782del (p.Ile594Ter) c.2907_2910del (p.Ile970Ter) c.3087_3090del (p.Ile1030Ter) c.2754_2757del (p.Ile919Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117610527_117610549delinsAATTGTGATTGGAGCTATAGCAG | CA1737384684 | CFTR | c.2997_3019delinsAATTGTGATTGGAGCTATAGCAG (p.Leu999=) c.*2711_*2733delinsAATTGTGATTGGAGCTATAGCAG (n.*2711_*2733delinsAATTGTGATTGGAGCTATAGCAG) c.2814_2836delinsAATTGTGATTGGAGCTATAGCAG (p.Leu938=) c.*1297_*1319delinsAATTGTGATTGGAGCTATAGCAG (n.*1297_*1319delinsAATTGTGATTGGAGCTATAGCAG) c.*2821_*2843delinsAATTGTGATTGGAGCTATAGCAG (n.*2821_*2843delinsAATTGTGATTGGAGCTATAGCAG) c.2571_2593delinsAATTGTGATTGGAGCTATAGCAG (p.Leu857=) c.588_610delinsAATTGTGATTGGAGCTATAGCAG (p.Leu196=) c.647_669delinsAATTGTGATTGGAGCTATAGCAG c.1779_1801delinsAATTGTGATTGGAGCTATAGCAG (p.Leu593=) c.2907_2929delinsAATTGTGATTGGAGCTATAGCAG (p.Leu969=) c.3087_3109delinsAATTGTGATTGGAGCTATAGCAG (p.Leu1029=) c.2754_2776delinsAATTGTGATTGGAGCTATAGCAG (p.Leu918=) | |
| 7 | g.117610530_117610544del | CA2579000359 | CFTR | c.3000_3014del (p.Val1001_Ile1005del) c.*2714_*2728del (n.*2714_*2728del) c.2817_2831del (p.Val940_Ile944del) c.*1300_*1314del (n.*1300_*1314del) c.*2824_*2838del (n.*2824_*2838del) c.2574_2588del (p.Val859_Ile863del) c.591_605del (p.Val198_Ile202del) c.650_664del c.1782_1796del (p.Val595_Ile599del) c.2910_2924del (p.Val971_Ile975del) c.3090_3104del (p.Val1031_Ile1035del) c.2757_2771del (p.Val920_Ile924del) | ClinVar |
| 7 | g.117610528_117610549del | CA327001 | CFTR | c.2998_3019del (p.Ile1000LeufsTer16) c.*2712_*2733del (n.*2712_*2733del) c.2815_2836del (p.Ile939LeufsTer16) c.*1298_*1319del (n.*1298_*1319del) c.*2822_*2843del (n.*2822_*2843del) c.2572_2593del (p.Ile858LeufsTer16) c.589_610del (p.Ile197LeufsTer16) c.648_669del c.1780_1801del (p.Ile594LeufsTer16) c.2908_2929del (p.Ile970LeufsTer16) c.3088_3109del (p.Ile1030LeufsTer16) c.2755_2776del (p.Ile919LeufsTer16) | ClinVar dbSNP |
| 7 | g.117610529_117610531delinsTTG | CA1737384690 | CFTR | c.2999_3001delinsTTG (p.Ile1000=) c.*2713_*2715delinsTTG (n.*2713_*2715delinsTTG) c.2816_2818delinsTTG (p.Ile939=) c.*1299_*1301delinsTTG (n.*1299_*1301delinsTTG) c.*2823_*2825delinsTTG (n.*2823_*2825delinsTTG) c.2573_2575delinsTTG (p.Ile858=) c.590_592delinsTTG (p.Ile197=) c.649_651delinsTTG c.1781_1783delinsTTG (p.Ile594=) c.2909_2911delinsTTG (p.Ile970=) c.3089_3091delinsTTG (p.Ile1030=) c.2756_2758delinsTTG (p.Ile919=) | |
| 7 | g.117610530T>A | CA457229348 | CFTR | c.3000T>A (p.Ile1000=) c.*2714T>A (n.*2714T>A) c.2817T>A (p.Ile939=) c.*1300T>A (n.*1300T>A) c.*2824T>A (n.*2824T>A) c.2574T>A (p.Ile858=) c.591T>A (p.Ile197=) c.650T>A c.1782T>A (p.Ile594=) c.2910T>A (p.Ile970=) c.3090T>A (p.Ile1030=) c.2757T>A (p.Ile919=) | |
| 7 | g.117610530T>C | CA457229349 | CFTR | c.3000T>C (p.Ile1000=) c.*2714T>C (n.*2714T>C) c.2817T>C (p.Ile939=) c.*1300T>C (n.*1300T>C) c.*2824T>C (n.*2824T>C) c.2574T>C (p.Ile858=) c.591T>C (p.Ile197=) c.650T>C c.1782T>C (p.Ile594=) c.2910T>C (p.Ile970=) c.3090T>C (p.Ile1030=) c.2757T>C (p.Ile919=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117610530T>G | CA368990315 | CFTR | c.3000T>G (p.Ile1000Met) c.*2714T>G (n.*2714T>G) c.2817T>G (p.Ile939Met) c.*1300T>G (n.*1300T>G) c.*2824T>G (n.*2824T>G) c.2574T>G (p.Ile858Met) c.591T>G (p.Ile197Met) c.650T>G c.1782T>G (p.Ile594Met) c.2910T>G (p.Ile970Met) c.3090T>G (p.Ile1030Met) c.2757T>G (p.Ile919Met) | |
| 7 | g.117610530T= | CA1737384701 | CFTR | c.3000T= (p.Ile1000=) c.*2714T= (n.*2714T=) c.2817T= (p.Ile939=) c.*1300T= (n.*1300T=) c.*2824T= (n.*2824T=) c.2574T= (p.Ile858=) c.591T= (p.Ile197=) c.650T= c.1782T= (p.Ile594=) c.2910T= (p.Ile970=) c.3090T= (p.Ile1030=) c.2757T= (p.Ile919=) | |
| 7 | g.117610532_117610533del | CA327007 | CFTR | c.3002_3003del (p.Val1001AspfsTer?) c.*2716_*2717del (n.*2716_*2717del) c.2819_2820del (p.Val940AspfsTer?) c.*1302_*1303del (n.*1302_*1303del) c.*2826_*2827del (n.*2826_*2827del) c.2576_2577del (p.Val859AspfsTer?) c.593_594del (p.Val198AspfsTer?) c.652_653del c.1784_1785del (p.Val595AspfsTer?) c.2912_2913del (p.Val971AspfsTer?) c.3092_3093del (p.Val1031AspfsTer?) c.2759_2760del (p.Val920AspfsTer?) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117610531G>A | CA164965069 | CFTR | c.3001G>A (p.Val1001Met) c.*2715G>A (n.*2715G>A) c.2818G>A (p.Val940Met) c.*1301G>A (n.*1301G>A) c.*2825G>A (n.*2825G>A) c.2575G>A (p.Val859Met) c.592G>A (p.Val198Met) c.651G>A c.1783G>A (p.Val595Met) c.2911G>A (p.Val971Met) c.3091G>A (p.Val1031Met) c.2758G>A (p.Val920Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117610531G>C | CA4451362 | CFTR | c.3001G>C (p.Val1001Leu) c.*2715G>C (n.*2715G>C) c.2818G>C (p.Val940Leu) c.*1301G>C (n.*1301G>C) c.*2825G>C (n.*2825G>C) c.2575G>C (p.Val859Leu) c.592G>C (p.Val198Leu) c.651G>C c.1783G>C (p.Val595Leu) c.2911G>C (p.Val971Leu) c.3091G>C (p.Val1031Leu) c.2758G>C (p.Val920Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117610531G= | CA1737384713 | CFTR | c.3001G= (p.Val1001=) c.*2715G= (n.*2715G=) c.2818G= (p.Val940=) c.*1301G= (n.*1301G=) c.*2825G= (n.*2825G=) c.2575G= (p.Val859=) c.592G= (p.Val198=) c.651G= c.1783G= (p.Val595=) c.2911G= (p.Val971=) c.3091G= (p.Val1031=) c.2758G= (p.Val920=) | |
| 7 | g.117610531G>T | CA368990319 | CFTR | c.3001G>T (p.Val1001Leu) c.*2715G>T (n.*2715G>T) c.2818G>T (p.Val940Leu) c.*1301G>T (n.*1301G>T) c.*2825G>T (n.*2825G>T) c.2575G>T (p.Val859Leu) c.592G>T (p.Val198Leu) c.651G>T c.1783G>T (p.Val595Leu) c.2911G>T (p.Val971Leu) c.3091G>T (p.Val1031Leu) c.2758G>T (p.Val920Leu) | gnomAD v4 |
| 7 | g.117610532T>A | CA368990325 | CFTR | c.3002T>A (p.Val1001Glu) c.*2716T>A (n.*2716T>A) c.2819T>A (p.Val940Glu) c.*1302T>A (n.*1302T>A) c.*2826T>A (n.*2826T>A) c.2576T>A (p.Val859Glu) c.593T>A (p.Val198Glu) c.652T>A c.1784T>A (p.Val595Glu) c.2912T>A (p.Val971Glu) c.3092T>A (p.Val1031Glu) c.2759T>A (p.Val920Glu) | |
| 7 | g.117610532T>C | CA368990327 | CFTR | c.3002T>C (p.Val1001Ala) c.*2716T>C (n.*2716T>C) c.2819T>C (p.Val940Ala) c.*1302T>C (n.*1302T>C) c.*2826T>C (n.*2826T>C) c.2576T>C (p.Val859Ala) c.593T>C (p.Val198Ala) c.652T>C c.1784T>C (p.Val595Ala) c.2912T>C (p.Val971Ala) c.3092T>C (p.Val1031Ala) c.2759T>C (p.Val920Ala) | |
| 7 | g.117610532T>G | CA368990330 | CFTR | c.3002T>G (p.Val1001Gly) c.*2716T>G (n.*2716T>G) c.2819T>G (p.Val940Gly) c.*1302T>G (n.*1302T>G) c.*2826T>G (n.*2826T>G) c.2576T>G (p.Val859Gly) c.593T>G (p.Val198Gly) c.652T>G c.1784T>G (p.Val595Gly) c.2912T>G (p.Val971Gly) c.3092T>G (p.Val1031Gly) c.2759T>G (p.Val920Gly) | |
| 7 | g.117610533G>A | CA457229350 | CFTR | c.3003G>A (p.Val1001=) c.*2717G>A (n.*2717G>A) c.2820G>A (p.Val940=) c.*1303G>A (n.*1303G>A) c.*2827G>A (n.*2827G>A) c.2577G>A (p.Val859=) c.594G>A (p.Val198=) c.653G>A c.1785G>A (p.Val595=) c.2913G>A (p.Val971=) c.3093G>A (p.Val1031=) c.2760G>A (p.Val920=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117610533G>C | CA457229351 | CFTR | c.3003G>C (p.Val1001=) c.*2717G>C (n.*2717G>C) c.2820G>C (p.Val940=) c.*1303G>C (n.*1303G>C) c.*2827G>C (n.*2827G>C) c.2577G>C (p.Val859=) c.594G>C (p.Val198=) c.653G>C c.1785G>C (p.Val595=) c.2913G>C (p.Val971=) c.3093G>C (p.Val1031=) c.2760G>C (p.Val920=) | |
| 7 | g.117610533G= | CA1737384716 | CFTR | c.3003G= (p.Val1001=) c.*2717G= (n.*2717G=) c.2820G= (p.Val940=) c.*1303G= (n.*1303G=) c.*2827G= (n.*2827G=) c.2577G= (p.Val859=) c.594G= (p.Val198=) c.653G= c.1785G= (p.Val595=) c.2913G= (p.Val971=) c.3093G= (p.Val1031=) c.2760G= (p.Val920=) | |
| 7 | g.117610533G>T | CA457229352 | CFTR | c.3003G>T (p.Val1001=) c.*2717G>T (n.*2717G>T) c.2820G>T (p.Val940=) c.*1303G>T (n.*1303G>T) c.*2827G>T (n.*2827G>T) c.2577G>T (p.Val859=) c.594G>T (p.Val198=) c.653G>T c.1785G>T (p.Val595=) c.2913G>T (p.Val971=) c.3093G>T (p.Val1031=) c.2760G>T (p.Val920=) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117610534A= | CA1737384719 | CFTR | c.3004A= (p.Ile1002=) c.*2718A= (n.*2718A=) c.2821A= (p.Ile941=) c.*1304A= (n.*1304A=) c.*2828A= (n.*2828A=) c.2578A= (p.Ile860=) c.595A= (p.Ile199=) c.654A= c.1786A= (p.Ile596=) c.2914A= (p.Ile972=) c.3094A= (p.Ile1032=) c.2761A= (p.Ile921=) | |
| 7 | g.117610534A>C | CA368990332 | CFTR | c.3004A>C (p.Ile1002Leu) c.*2718A>C (n.*2718A>C) c.2821A>C (p.Ile941Leu) c.*1304A>C (n.*1304A>C) c.*2828A>C (n.*2828A>C) c.2578A>C (p.Ile860Leu) c.595A>C (p.Ile199Leu) c.654A>C c.1786A>C (p.Ile596Leu) c.2914A>C (p.Ile972Leu) c.3094A>C (p.Ile1032Leu) c.2761A>C (p.Ile921Leu) | |
| 7 | g.117610534A>G | CA368990338 | CFTR | c.3004A>G (p.Ile1002Val) c.*2718A>G (n.*2718A>G) c.2821A>G (p.Ile941Val) c.*1304A>G (n.*1304A>G) c.*2828A>G (n.*2828A>G) c.2578A>G (p.Ile860Val) c.595A>G (p.Ile199Val) c.654A>G c.1786A>G (p.Ile596Val) c.2914A>G (p.Ile972Val) c.3094A>G (p.Ile1032Val) c.2761A>G (p.Ile921Val) | |
| 7 | g.117610534A>T | CA4451363 | CFTR | c.3004A>T (p.Ile1002Phe) c.*2718A>T (n.*2718A>T) c.2821A>T (p.Ile941Phe) c.*1304A>T (n.*1304A>T) c.*2828A>T (n.*2828A>T) c.2578A>T (p.Ile860Phe) c.595A>T (p.Ile199Phe) c.654A>T c.1786A>T (p.Ile596Phe) c.2914A>T (p.Ile972Phe) c.3094A>T (p.Ile1032Phe) c.2761A>T (p.Ile921Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117610535T>A | CA368990342 | CFTR | c.3005T>A (p.Ile1002Asn) c.*2719T>A (n.*2719T>A) c.2822T>A (p.Ile941Asn) c.*1305T>A (n.*1305T>A) c.*2829T>A (n.*2829T>A) c.2579T>A (p.Ile860Asn) c.596T>A (p.Ile199Asn) c.655T>A c.1787T>A (p.Ile596Asn) c.2915T>A (p.Ile972Asn) c.3095T>A (p.Ile1032Asn) c.2762T>A (p.Ile921Asn) | |
| 7 | g.117610535T>C | CA368990346 | CFTR | c.3005T>C (p.Ile1002Thr) c.*2719T>C (n.*2719T>C) c.2822T>C (p.Ile941Thr) c.*1305T>C (n.*1305T>C) c.*2829T>C (n.*2829T>C) c.2579T>C (p.Ile860Thr) c.596T>C (p.Ile199Thr) c.655T>C c.1787T>C (p.Ile596Thr) c.2915T>C (p.Ile972Thr) c.3095T>C (p.Ile1032Thr) c.2762T>C (p.Ile921Thr) | ClinVar dbSNP |
| 7 | g.117610535T>G | CA368990343 | CFTR | c.3005T>G (p.Ile1002Ser) c.*2719T>G (n.*2719T>G) c.2822T>G (p.Ile941Ser) c.*1305T>G (n.*1305T>G) c.*2829T>G (n.*2829T>G) c.2579T>G (p.Ile860Ser) c.596T>G (p.Ile199Ser) c.655T>G c.1787T>G (p.Ile596Ser) c.2915T>G (p.Ile972Ser) c.3095T>G (p.Ile1032Ser) c.2762T>G (p.Ile921Ser) | |
| 7 | g.117610535T= | CA1737384722 | CFTR | c.3005T= (p.Ile1002=) c.*2719T= (n.*2719T=) c.2822T= (p.Ile941=) c.*1305T= (n.*1305T=) c.*2829T= (n.*2829T=) c.2579T= (p.Ile860=) c.596T= (p.Ile199=) c.655T= c.1787T= (p.Ile596=) c.2915T= (p.Ile972=) c.3095T= (p.Ile1032=) c.2762T= (p.Ile921=) | |
| 7 | g.117610536T>A | CA457229353 | CFTR | c.3006T>A (p.Ile1002=) c.*2720T>A (n.*2720T>A) c.2823T>A (p.Ile941=) c.*1306T>A (n.*1306T>A) c.*2830T>A (n.*2830T>A) c.2580T>A (p.Ile860=) c.597T>A (p.Ile199=) c.656T>A c.1788T>A (p.Ile596=) c.2916T>A (p.Ile972=) c.3096T>A (p.Ile1032=) c.2763T>A (p.Ile921=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117610536T>C | CA457229354 | CFTR | c.3006T>C (p.Ile1002=) c.*2720T>C (n.*2720T>C) c.2823T>C (p.Ile941=) c.*1306T>C (n.*1306T>C) c.*2830T>C (n.*2830T>C) c.2580T>C (p.Ile860=) c.597T>C (p.Ile199=) c.656T>C c.1788T>C (p.Ile596=) c.2916T>C (p.Ile972=) c.3096T>C (p.Ile1032=) c.2763T>C (p.Ile921=) | |
| 7 | g.117610536T>G | CA368990348 | CFTR | c.3006T>G (p.Ile1002Met) c.*2720T>G (n.*2720T>G) c.2823T>G (p.Ile941Met) c.*1306T>G (n.*1306T>G) c.*2830T>G (n.*2830T>G) c.2580T>G (p.Ile860Met) c.597T>G (p.Ile199Met) c.656T>G c.1788T>G (p.Ile596Met) c.2916T>G (p.Ile972Met) c.3096T>G (p.Ile1032Met) c.2763T>G (p.Ile921Met) | |
| 7 | g.117610536T= | CA1737384726 | CFTR | c.3006T= (p.Ile1002=) c.*2720T= (n.*2720T=) c.2823T= (p.Ile941=) c.*1306T= (n.*1306T=) c.*2830T= (n.*2830T=) c.2580T= (p.Ile860=) c.597T= (p.Ile199=) c.656T= c.1788T= (p.Ile596=) c.2916T= (p.Ile972=) c.3096T= (p.Ile1032=) c.2763T= (p.Ile921=) | |
| 7 | g.117610537G>A | CA368990351 | CFTR | c.3007G>A (p.Gly1003Arg) c.*2721G>A (n.*2721G>A) c.2824G>A (p.Gly942Arg) c.*1307G>A (n.*1307G>A) c.*2831G>A (n.*2831G>A) c.2581G>A (p.Gly861Arg) c.598G>A (p.Gly200Arg) c.657G>A c.1789G>A (p.Gly597Arg) c.2917G>A (p.Gly973Arg) c.3097G>A (p.Gly1033Arg) c.2764G>A (p.Gly922Arg) | ClinVar |
| 7 | g.117610537G>C | CA368990353 | CFTR | c.3007G>C (p.Gly1003Arg) c.*2721G>C (n.*2721G>C) c.2824G>C (p.Gly942Arg) c.*1307G>C (n.*1307G>C) c.*2831G>C (n.*2831G>C) c.2581G>C (p.Gly861Arg) c.598G>C (p.Gly200Arg) c.657G>C c.1789G>C (p.Gly597Arg) c.2917G>C (p.Gly973Arg) c.3097G>C (p.Gly1033Arg) c.2764G>C (p.Gly922Arg) | |
| 7 | g.117610537G= | CA1737384733 | CFTR | c.3007G= (p.Gly1003=) c.*2721G= (n.*2721G=) c.2824G= (p.Gly942=) c.*1307G= (n.*1307G=) c.*2831G= (n.*2831G=) c.2581G= (p.Gly861=) c.598G= (p.Gly200=) c.657G= c.1789G= (p.Gly597=) c.2917G= (p.Gly973=) c.3097G= (p.Gly1033=) c.2764G= (p.Gly922=) | |
| 7 | g.117610537G>T | CA327008 | CFTR | c.3007G>T (p.Gly1003Ter) c.*2721G>T (n.*2721G>T) c.2824G>T (p.Gly942Ter) c.*1307G>T (n.*1307G>T) c.*2831G>T (n.*2831G>T) c.2581G>T (p.Gly861Ter) c.598G>T (p.Gly200Ter) c.657G>T c.1789G>T (p.Gly597Ter) c.2917G>T (p.Gly973Ter) c.3097G>T (p.Gly1033Ter) c.2764G>T (p.Gly922Ter) | ClinVar dbSNP |