| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117602152_117612006del | CA325806 | CFTR | c.2620-674_3367+198del c.*2334-674_*3081+198del c.2437-674_3184+198del c.*920-674_*1667+198del c.*2444-674_*3191+198del c.2194-674_2941+198del c.211-674_958+198del c.270-674_1017+198del c.1402-674_2149+198del c.2530-674_3277+198del c.2710-674_3457+198del c.2377-674_3124+198del | |
| 7 | g.117602152_117612040del | CA2499218685 | CFTR | c.2620-674_3367+232del c.*2334-674_*3081+232del c.2437-674_3184+232del c.*920-674_*1667+232del c.*2444-674_*3191+232del c.2194-674_2941+232del c.211-674_958+232del c.270-674_1017+232del c.1402-674_2149+232del c.2530-674_3277+232del c.2710-674_3457+232del c.2377-674_3124+232del | ClinVar |
| 7 | g.117604867_117612068del | CA913190213 | CFTR | c.2908+1085_3367+260del c.*2622+1085_*3081+260del c.2725+1085_3184+260del c.*1208+1085_*1667+260del c.*2732+1085_*3191+260del c.2482+1085_2941+260del c.499+1085_958+260del c.558+1085_1017+260del c.1690+1085_2149+260del c.2818+1085_3277+260del c.2998+1085_3457+260del c.2665+1085_3124+260del | ClinVar |
| 7 | g.117606038_117613002delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG | CA2580076402 | CFTR | c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.*2623-636_*3081+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2726-636_3184+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.*1209-636_*1667+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.*2733-636_*3191+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2483-636_2941+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.500-636_958+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.559-636_1017+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.1691-636_2149+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2819-636_3277+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2999-636_3457+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2666-636_3124+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG | ClinVar |
| 7 | g.117606676_117611810del | CA913190200 | CFTR | c.2911_3367+2del c.*2625_*3081+2del c.2728_3184+2del c.*1211_*1667+2del c.*2735_*3191+2del c.2485_2941+2del c.502_958+2del c.561_1017+2del c.1693_2149+2del c.2821_3277+2del c.3001_3457+2del c.2668_3124+2del | ClinVar |
| 7 | g.117607926_117616824del | CA1139532136 | CFTR | c.2988+1173_3468+2111del c.*2702+1173_*3182+2111del c.2805+1173_3285+2111del c.*1288+1173_*1843+2111del c.2988+1173_3462+2111del c.*2812+1173_*3292+2111del c.2562+1173_3042+2111del c.579+1173_1059+2111del c.638+1173_1118+2111del c.1770+1173_2250+2111del c.2898+1173_3378+2111del c.3078+1173_3558+2111del c.2745+1173_3225+2111del | |
| 7 | g.117608369_117612164delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC | CA2580076408 | CFTR | c.2988+1616_3367+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.*2702+1616_*3081+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.2805+1616_3184+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.*1288+1616_*1667+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.*2812+1616_*3191+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.2562+1616_2941+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.579+1616_958+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.638+1616_1017+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.1770+1616_2149+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.2898+1616_3277+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.3078+1616_3457+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.2745+1616_3124+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC | ClinVar |
| 7 | g.117609542_117612056del | CA325807 | CFTR | c.2989-977_3367+248del c.*2703-977_*3081+248del c.2806-977_3184+248del c.*1289-977_*1667+248del c.*2813-977_*3191+248del c.2563-977_2941+248del c.580-977_958+248del c.639-977_1017+248del c.1771-977_2149+248del c.2899-977_3277+248del c.3079-977_3457+248del c.2746-977_3124+248del | ClinVar |
| 7 | g.117610519_117611808del | CA913189830 | CFTR | c.2989_3367del c.*2703_*3081del c.2806_3184del c.*1289_*1667del c.*2813_*3191del c.2563_2941del c.580_958del c.639_1017del c.1771_2149del c.2899_3277del c.3079_3457del c.2746_3124del | ClinVar |
| 7 | g.117610519_117614713del | CA913189831 | CFTR | c.2989_3468del c.*2703_*3182del c.2806_3285del c.*1289_*1843del c.2989_3462del c.*2813_*3292del c.2563_3042del c.580_1059del c.639_1118del c.1771_2250del c.2899_3378del c.3079_3558del c.2746_3225del | ClinVar |
| 7 | g.117611582_117614714del | CA913189834 | CFTR | c.3141_3468+1del c.*2855_*3182+1del c.2958_3285+1del c.*1441_*1843+1del c.3141_3462+1del c.*2965_*3292+1del c.2715_3042+1del c.732_1059+1del c.791_1118+1del c.1923_2250+1del c.3051_3378+1del c.3231_3558+1del c.2898_3225+1del | ClinVar |
| 7 | g.117611633_117611717del | CA2697557585 | CFTR | c.3192_3276del (p.Leu1065CysfsTer9) c.*2906_*2990del (n.*2906_*2990del) c.3009_3093del (p.Leu1004CysfsTer9) c.*1492_*1576del (n.*1492_*1576del) c.*3016_*3100del (n.*3016_*3100del) c.2766_2850del (p.Leu923CysfsTer9) c.783_867del (p.Leu262CysfsTer9) c.842_926del c.1974_2058del (p.Leu659CysfsTer9) c.3102_3186del (p.Leu1035CysfsTer9) c.17_101del c.3282_3366del (p.Leu1095CysfsTer9) c.2949_3033del (p.Leu984CysfsTer9) | ClinVar |
| 7 | g.117611670_117611671del | CA327105 | CFTR | c.3229_3230del (p.Leu1077ValfsTer?) c.*2943_*2944del (n.*2943_*2944del) c.3046_3047del (p.Leu1016ValfsTer?) c.*1529_*1530del (n.*1529_*1530del) c.*3053_*3054del (n.*3053_*3054del) c.2803_2804del (p.Leu935ValfsTer?) c.820_821del (p.Leu274ValfsTer?) c.879_880del c.2011_2012del (p.Leu671ValfsTer?) c.3139_3140del (p.Leu1047ValfsTer?) c.54_55del c.3319_3320del (p.Leu1107ValfsTer?) c.2986_2987del (p.Leu996ValfsTer?) | ClinVar dbSNP |
| 7 | g.117611671_117611675del | CA2695208435 | CFTR | c.3230_3234del (p.Leu1077ProfsTer?) c.*2944_*2948del (n.*2944_*2948del) c.3047_3051del (p.Leu1016ProfsTer?) c.*1530_*1534del (n.*1530_*1534del) c.*3054_*3058del (n.*3054_*3058del) c.2804_2808del (p.Leu935ProfsTer?) c.821_825del (p.Leu274ProfsTer?) c.880_884del c.2012_2016del (p.Leu671ProfsTer?) c.3140_3144del (p.Leu1047ProfsTer?) c.55_59del c.3320_3324del (p.Leu1107ProfsTer?) c.2987_2991del (p.Leu996ProfsTer?) | |
| 7 | g.117611670_117611672delinsCTG | CA1737387099 | CFTR | c.3229_3231delinsCTG (p.Leu1077=) c.*2943_*2945delinsCTG (n.*2943_*2945delinsCTG) c.3046_3048delinsCTG (p.Leu1016=) c.*1529_*1531delinsCTG (n.*1529_*1531delinsCTG) c.*3053_*3055delinsCTG (n.*3053_*3055delinsCTG) c.2803_2805delinsCTG (p.Leu935=) c.820_822delinsCTG (p.Leu274=) c.879_881delinsCTG c.2011_2013delinsCTG (p.Leu671=) c.3139_3141delinsCTG (p.Leu1047=) c.54_56delinsCTG c.3319_3321delinsCTG (p.Leu1107=) c.2986_2988delinsCTG (p.Leu996=) | |
| 7 | g.117611671T>A | CA368992176 | CFTR | c.3230T>A (p.Leu1077Gln) c.*2944T>A (n.*2944T>A) c.3047T>A (p.Leu1016Gln) c.*1530T>A (n.*1530T>A) c.*3054T>A (n.*3054T>A) c.2804T>A (p.Leu935Gln) c.821T>A (p.Leu274Gln) c.880T>A c.2012T>A (p.Leu671Gln) c.3140T>A (p.Leu1047Gln) c.55T>A c.3320T>A (p.Leu1107Gln) c.2987T>A (p.Leu996Gln) | |
| 7 | g.117611671T>C | CA328111 | CFTR | c.3230T>C (p.Leu1077Pro) c.*2944T>C (n.*2944T>C) c.3047T>C (p.Leu1016Pro) c.*1530T>C (n.*1530T>C) c.*3054T>C (n.*3054T>C) c.2804T>C (p.Leu935Pro) c.821T>C (p.Leu274Pro) c.880T>C c.2012T>C (p.Leu671Pro) c.3140T>C (p.Leu1047Pro) c.55T>C c.3320T>C (p.Leu1107Pro) c.2987T>C (p.Leu996Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611671T>G | CA368992179 | CFTR | c.3230T>G (p.Leu1077Arg) c.*2944T>G (n.*2944T>G) c.3047T>G (p.Leu1016Arg) c.*1530T>G (n.*1530T>G) c.*3054T>G (n.*3054T>G) c.2804T>G (p.Leu935Arg) c.821T>G (p.Leu274Arg) c.880T>G c.2012T>G (p.Leu671Arg) c.3140T>G (p.Leu1047Arg) c.55T>G c.3320T>G (p.Leu1107Arg) c.2987T>G (p.Leu996Arg) | |
| 7 | g.117611671T= | CA1737387109 | CFTR | c.3230T= (p.Leu1077=) c.*2944T= (n.*2944T=) c.3047T= (p.Leu1016=) c.*1530T= (n.*1530T=) c.*3054T= (n.*3054T=) c.2804T= (p.Leu935=) c.821T= (p.Leu274=) c.880T= c.2012T= (p.Leu671=) c.3140T= (p.Leu1047=) c.55T= c.3320T= (p.Leu1107=) c.2987T= (p.Leu996=) | |
| 7 | g.117611672_117611673del | CA4451410 | CFTR | c.3231_3232del (p.Phe1078ProfsTer?) c.*2945_*2946del (n.*2945_*2946del) c.3048_3049del (p.Phe1017ProfsTer?) c.*1531_*1532del (n.*1531_*1532del) c.*3055_*3056del (n.*3055_*3056del) c.2805_2806del (p.Phe936ProfsTer?) c.822_823del (p.Phe275ProfsTer?) c.881_882del c.2013_2014del (p.Phe672ProfsTer?) c.3141_3142del (p.Phe1048ProfsTer?) c.56_57del c.3321_3322del (p.Phe1108ProfsTer?) c.2988_2989del (p.Phe997ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117611672G>A | CA457230030 | CFTR | c.3231G>A (p.Leu1077=) c.*2945G>A (n.*2945G>A) c.3048G>A (p.Leu1016=) c.*1531G>A (n.*1531G>A) c.*3055G>A (n.*3055G>A) c.2805G>A (p.Leu935=) c.822G>A (p.Leu274=) c.881G>A c.2013G>A (p.Leu671=) c.3141G>A (p.Leu1047=) c.56G>A c.3321G>A (p.Leu1107=) c.2988G>A (p.Leu996=) | |
| 7 | g.117611672G>C | CA457230031 | CFTR | c.3231G>C (p.Leu1077=) c.*2945G>C (n.*2945G>C) c.3048G>C (p.Leu1016=) c.*1531G>C (n.*1531G>C) c.*3055G>C (n.*3055G>C) c.2805G>C (p.Leu935=) c.822G>C (p.Leu274=) c.881G>C c.2013G>C (p.Leu671=) c.3141G>C (p.Leu1047=) c.56G>C c.3321G>C (p.Leu1107=) c.2988G>C (p.Leu996=) | |
| 7 | g.117611672G>T | CA457230032 | CFTR | c.3231G>T (p.Leu1077=) c.*2945G>T (n.*2945G>T) c.3048G>T (p.Leu1016=) c.*1531G>T (n.*1531G>T) c.*3055G>T (n.*3055G>T) c.2805G>T (p.Leu935=) c.822G>T (p.Leu274=) c.881G>T c.2013G>T (p.Leu671=) c.3141G>T (p.Leu1047=) c.56G>T c.3321G>T (p.Leu1107=) c.2988G>T (p.Leu996=) | |
| 7 | g.117611673T>A | CA368992185 | CFTR | c.3232T>A (p.Phe1078Ile) c.*2946T>A (n.*2946T>A) c.3049T>A (p.Phe1017Ile) c.*1532T>A (n.*1532T>A) c.*3056T>A (n.*3056T>A) c.2806T>A (p.Phe936Ile) c.823T>A (p.Phe275Ile) c.882T>A c.2014T>A (p.Phe672Ile) c.3142T>A (p.Phe1048Ile) c.57T>A c.3322T>A (p.Phe1108Ile) c.2989T>A (p.Phe997Ile) | |
| 7 | g.117611673T>C | CA368992182 | CFTR | c.3232T>C (p.Phe1078Leu) c.*2946T>C (n.*2946T>C) c.3049T>C (p.Phe1017Leu) c.*1532T>C (n.*1532T>C) c.*3056T>C (n.*3056T>C) c.2806T>C (p.Phe936Leu) c.823T>C (p.Phe275Leu) c.882T>C c.2014T>C (p.Phe672Leu) c.3142T>C (p.Phe1048Leu) c.57T>C c.3322T>C (p.Phe1108Leu) c.2989T>C (p.Phe997Leu) | |
| 7 | g.117611673T>G | CA368992184 | CFTR | c.3232T>G (p.Phe1078Val) c.*2946T>G (n.*2946T>G) c.3049T>G (p.Phe1017Val) c.*1532T>G (n.*1532T>G) c.*3056T>G (n.*3056T>G) c.2806T>G (p.Phe936Val) c.823T>G (p.Phe275Val) c.882T>G c.2014T>G (p.Phe672Val) c.3142T>G (p.Phe1048Val) c.57T>G c.3322T>G (p.Phe1108Val) c.2989T>G (p.Phe997Val) | |
| 7 | g.117611674T>A | CA368992188 | CFTR | c.3233T>A (p.Phe1078Tyr) c.*2947T>A (n.*2947T>A) c.3050T>A (p.Phe1017Tyr) c.*1533T>A (n.*1533T>A) c.*3057T>A (n.*3057T>A) c.2807T>A (p.Phe936Tyr) c.824T>A (p.Phe275Tyr) c.883T>A c.2015T>A (p.Phe672Tyr) c.3143T>A (p.Phe1048Tyr) c.58T>A c.3323T>A (p.Phe1108Tyr) c.2990T>A (p.Phe997Tyr) | |
| 7 | g.117611674T>C | CA368992189 | CFTR | c.3233T>C (p.Phe1078Ser) c.*2947T>C (n.*2947T>C) c.3050T>C (p.Phe1017Ser) c.*1533T>C (n.*1533T>C) c.*3057T>C (n.*3057T>C) c.2807T>C (p.Phe936Ser) c.824T>C (p.Phe275Ser) c.883T>C c.2015T>C (p.Phe672Ser) c.3143T>C (p.Phe1048Ser) c.58T>C c.3323T>C (p.Phe1108Ser) c.2990T>C (p.Phe997Ser) | |
| 7 | g.117611674T>G | CA368992190 | CFTR | c.3233T>G (p.Phe1078Cys) c.*2947T>G (n.*2947T>G) c.3050T>G (p.Phe1017Cys) c.*1533T>G (n.*1533T>G) c.*3057T>G (n.*3057T>G) c.2807T>G (p.Phe936Cys) c.824T>G (p.Phe275Cys) c.883T>G c.2015T>G (p.Phe672Cys) c.3143T>G (p.Phe1048Cys) c.58T>G c.3323T>G (p.Phe1108Cys) c.2990T>G (p.Phe997Cys) | |
| 7 | g.117611675C>A | CA368992192 | CFTR | c.3234C>A (p.Phe1078Leu) c.*2948C>A (n.*2948C>A) c.3051C>A (p.Phe1017Leu) c.*1534C>A (n.*1534C>A) c.*3058C>A (n.*3058C>A) c.2808C>A (p.Phe936Leu) c.825C>A (p.Phe275Leu) c.884C>A c.2016C>A (p.Phe672Leu) c.3144C>A (p.Phe1048Leu) c.59C>A c.3324C>A (p.Phe1108Leu) c.2991C>A (p.Phe997Leu) | |
| 7 | g.117611675C>G | CA368992194 | CFTR | c.3234C>G (p.Phe1078Leu) c.*2948C>G (n.*2948C>G) c.3051C>G (p.Phe1017Leu) c.*1534C>G (n.*1534C>G) c.*3058C>G (n.*3058C>G) c.2808C>G (p.Phe936Leu) c.825C>G (p.Phe275Leu) c.884C>G c.2016C>G (p.Phe672Leu) c.3144C>G (p.Phe1048Leu) c.59C>G c.3324C>G (p.Phe1108Leu) c.2991C>G (p.Phe997Leu) | |
| 7 | g.117611675C>T | CA457230033 | CFTR | c.3234C>T (p.Phe1078=) c.*2948C>T (n.*2948C>T) c.3051C>T (p.Phe1017=) c.*1534C>T (n.*1534C>T) c.*3058C>T (n.*3058C>T) c.2808C>T (p.Phe936=) c.825C>T (p.Phe275=) c.884C>T c.2016C>T (p.Phe672=) c.3144C>T (p.Phe1048=) c.59C>T c.3324C>T (p.Phe1108=) c.2991C>T (p.Phe997=) | gnomAD v4 |
| 7 | g.117611676C>A | CA368992196 | CFTR | c.3235C>A (p.His1079Asn) c.*2949C>A (n.*2949C>A) c.3052C>A (p.His1018Asn) c.*1535C>A (n.*1535C>A) c.*3059C>A (n.*3059C>A) c.2809C>A (p.His937Asn) c.826C>A (p.His276Asn) c.885C>A c.2017C>A (p.His673Asn) c.3145C>A (p.His1049Asn) c.60C>A c.3325C>A (p.His1109Asn) c.2992C>A (p.His998Asn) | |
| 7 | g.117611676C>G | CA368992197 | CFTR | c.3235C>G (p.His1079Asp) c.*2949C>G (n.*2949C>G) c.3052C>G (p.His1018Asp) c.*1535C>G (n.*1535C>G) c.*3059C>G (n.*3059C>G) c.2809C>G (p.His937Asp) c.826C>G (p.His276Asp) c.885C>G c.2017C>G (p.His673Asp) c.3145C>G (p.His1049Asp) c.60C>G c.3325C>G (p.His1109Asp) c.2992C>G (p.His998Asp) | |
| 7 | g.117611676C>T | CA368992199 | CFTR | c.3235C>T (p.His1079Tyr) c.*2949C>T (n.*2949C>T) c.3052C>T (p.His1018Tyr) c.*1535C>T (n.*1535C>T) c.*3059C>T (n.*3059C>T) c.2809C>T (p.His937Tyr) c.826C>T (p.His276Tyr) c.885C>T c.2017C>T (p.His673Tyr) c.3145C>T (p.His1049Tyr) c.60C>T c.3325C>T (p.His1109Tyr) c.2992C>T (p.His998Tyr) | ClinVar |
| 7 | g.117611677A= | CA1737387113 | CFTR | c.3236A= (p.His1079=) c.*2950A= (n.*2950A=) c.3053A= (p.His1018=) c.*1536A= (n.*1536A=) c.*3060A= (n.*3060A=) c.2810A= (p.His937=) c.827A= (p.His276=) c.886A= c.2018A= (p.His673=) c.3146A= (p.His1049=) c.61A= c.3326A= (p.His1109=) c.2993A= (p.His998=) | |
| 7 | g.117611677A>C | CA327106 | CFTR | c.3236A>C (p.His1079Pro) c.*2950A>C (n.*2950A>C) c.3053A>C (p.His1018Pro) c.*1536A>C (n.*1536A>C) c.*3060A>C (n.*3060A>C) c.2810A>C (p.His937Pro) c.827A>C (p.His276Pro) c.886A>C c.2018A>C (p.His673Pro) c.3146A>C (p.His1049Pro) c.61A>C c.3326A>C (p.His1109Pro) c.2993A>C (p.His998Pro) | dbSNP |
| 7 | g.117611677A>G | CA368992202 | CFTR | c.3236A>G (p.His1079Arg) c.*2950A>G (n.*2950A>G) c.3053A>G (p.His1018Arg) c.*1536A>G (n.*1536A>G) c.*3060A>G (n.*3060A>G) c.2810A>G (p.His937Arg) c.827A>G (p.His276Arg) c.886A>G c.2018A>G (p.His673Arg) c.3146A>G (p.His1049Arg) c.61A>G c.3326A>G (p.His1109Arg) c.2993A>G (p.His998Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117611677A>T | CA368992204 | CFTR | c.3236A>T (p.His1079Leu) c.*2950A>T (n.*2950A>T) c.3053A>T (p.His1018Leu) c.*1536A>T (n.*1536A>T) c.*3060A>T (n.*3060A>T) c.2810A>T (p.His937Leu) c.827A>T (p.His276Leu) c.886A>T c.2018A>T (p.His673Leu) c.3146A>T (p.His1049Leu) c.61A>T c.3326A>T (p.His1109Leu) c.2993A>T (p.His998Leu) | |
| 7 | g.117611678C>A | CA368992208 | CFTR | c.3237C>A (p.His1079Gln) c.*2951C>A (n.*2951C>A) c.3054C>A (p.His1018Gln) c.*1537C>A (n.*1537C>A) c.*3061C>A (n.*3061C>A) c.2811C>A (p.His937Gln) c.828C>A (p.His276Gln) c.887C>A c.2019C>A (p.His673Gln) c.3147C>A (p.His1049Gln) c.62C>A c.3327C>A (p.His1109Gln) c.2994C>A (p.His998Gln) | |
| 7 | g.117611678C>G | CA368992206 | CFTR | c.3237C>G (p.His1079Gln) c.*2951C>G (n.*2951C>G) c.3054C>G (p.His1018Gln) c.*1537C>G (n.*1537C>G) c.*3061C>G (n.*3061C>G) c.2811C>G (p.His937Gln) c.828C>G (p.His276Gln) c.887C>G c.2019C>G (p.His673Gln) c.3147C>G (p.His1049Gln) c.62C>G c.3327C>G (p.His1109Gln) c.2994C>G (p.His998Gln) | |
| 7 | g.117611678C>T | CA457230034 | CFTR | c.3237C>T (p.His1079=) c.*2951C>T (n.*2951C>T) c.3054C>T (p.His1018=) c.*1537C>T (n.*1537C>T) c.*3061C>T (n.*3061C>T) c.2811C>T (p.His937=) c.828C>T (p.His276=) c.887C>T c.2019C>T (p.His673=) c.3147C>T (p.His1049=) c.62C>T c.3327C>T (p.His1109=) c.2994C>T (p.His998=) | ClinVar dbSNP |
| 7 | g.117611679A= | CA1737387116 | CFTR | c.3238A= (p.Lys1080=) c.*2952A= (n.*2952A=) c.3055A= (p.Lys1019=) c.*1538A= (n.*1538A=) c.*3062A= (n.*3062A=) c.2812A= (p.Lys938=) c.829A= (p.Lys277=) c.888A= c.2020A= (p.Lys674=) c.3148A= (p.Lys1050=) c.63A= c.3328A= (p.Lys1110=) c.2995A= (p.Lys999=) | |
| 7 | g.117611679A>C | CA4451411 | CFTR | c.3238A>C (p.Lys1080Gln) c.*2952A>C (n.*2952A>C) c.3055A>C (p.Lys1019Gln) c.*1538A>C (n.*1538A>C) c.*3062A>C (n.*3062A>C) c.2812A>C (p.Lys938Gln) c.829A>C (p.Lys277Gln) c.888A>C c.2020A>C (p.Lys674Gln) c.3148A>C (p.Lys1050Gln) c.63A>C c.3328A>C (p.Lys1110Gln) c.2995A>C (p.Lys999Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611679A>G | CA368992210 | CFTR | c.3238A>G (p.Lys1080Glu) c.*2952A>G (n.*2952A>G) c.3055A>G (p.Lys1019Glu) c.*1538A>G (n.*1538A>G) c.*3062A>G (n.*3062A>G) c.2812A>G (p.Lys938Glu) c.829A>G (p.Lys277Glu) c.888A>G c.2020A>G (p.Lys674Glu) c.3148A>G (p.Lys1050Glu) c.63A>G c.3328A>G (p.Lys1110Glu) c.2995A>G (p.Lys999Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611679A>T | CA368992212 | CFTR | c.3238A>T (p.Lys1080Ter) c.*2952A>T (n.*2952A>T) c.3055A>T (p.Lys1019Ter) c.*1538A>T (n.*1538A>T) c.*3062A>T (n.*3062A>T) c.2812A>T (p.Lys938Ter) c.829A>T (p.Lys277Ter) c.888A>T c.2020A>T (p.Lys674Ter) c.3148A>T (p.Lys1050Ter) c.63A>T c.3328A>T (p.Lys1110Ter) c.2995A>T (p.Lys999Ter) | |
| 7 | g.117611681dup | CA2695208436 | CFTR | c.3240dup (p.Ala1081SerfsTer?) c.*2954dup (n.*2954dup) c.3057dup (p.Ala1020SerfsTer?) c.*1540dup (n.*1540dup) c.*3064dup (n.*3064dup) c.2814dup (p.Ala939SerfsTer?) c.831dup (p.Ala278SerfsTer?) c.890dup c.2022dup (p.Ala675SerfsTer?) c.3150dup (p.Ala1051SerfsTer?) c.65dup c.3330dup (p.Ala1111SerfsTer?) c.2997dup (p.Ala1000SerfsTer?) | |
| 7 | g.117611680A= | CA1737387121 | CFTR | c.3239A= (p.Lys1080=) c.*2953A= (n.*2953A=) c.3056A= (p.Lys1019=) c.*1539A= (n.*1539A=) c.*3063A= (n.*3063A=) c.2813A= (p.Lys938=) c.830A= (p.Lys277=) c.889A= c.2021A= (p.Lys674=) c.3149A= (p.Lys1050=) c.64A= c.3329A= (p.Lys1110=) c.2996A= (p.Lys999=) | |
| 7 | g.117611680A>C | CA368992214 | CFTR | c.3239A>C (p.Lys1080Thr) c.*2953A>C (n.*2953A>C) c.3056A>C (p.Lys1019Thr) c.*1539A>C (n.*1539A>C) c.*3063A>C (n.*3063A>C) c.2813A>C (p.Lys938Thr) c.830A>C (p.Lys277Thr) c.889A>C c.2021A>C (p.Lys674Thr) c.3149A>C (p.Lys1050Thr) c.64A>C c.3329A>C (p.Lys1110Thr) c.2996A>C (p.Lys999Thr) | |
| 7 | g.117611680A>G | CA4451412 | CFTR | c.3239A>G (p.Lys1080Arg) c.*2953A>G (n.*2953A>G) c.3056A>G (p.Lys1019Arg) c.*1539A>G (n.*1539A>G) c.*3063A>G (n.*3063A>G) c.2813A>G (p.Lys938Arg) c.830A>G (p.Lys277Arg) c.889A>G c.2021A>G (p.Lys674Arg) c.3149A>G (p.Lys1050Arg) c.64A>G c.3329A>G (p.Lys1110Arg) c.2996A>G (p.Lys999Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |