| 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.117611721_117612076delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC | CA1737387315 | CFTR | c.3280_3367+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.*2994_*3081+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.3097_3184+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.*1580_*1667+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.*3104_*3191+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.2854_2941+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.28_115+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.871_958+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.930_1017+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.2062_2149+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.3190_3277+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.105_192+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.3370_3457+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC c.3037_3124+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC | |
| 7 | g.117611722_117612076delinsTGTTAA | CA327125 | CFTR | c.3281_3367+268delinsTGTTAA c.*2995_*3081+268delinsTGTTAA c.3098_3184+268delinsTGTTAA c.*1581_*1667+268delinsTGTTAA c.*3105_*3191+268delinsTGTTAA c.2855_2941+268delinsTGTTAA c.29_115+268delinsTGTTAA c.872_958+268delinsTGTTAA c.931_1017+268delinsTGTTAA c.2063_2149+268delinsTGTTAA c.3191_3277+268delinsTGTTAA c.106_192+268delinsTGTTAA c.3371_3457+268delinsTGTTAA c.3038_3124+268delinsTGTTAA | ClinVar dbSNP |
| 7 | g.117611744_117611745delinsAG | CA2580076386 | CFTR | c.3303_3304delinsAG (p.Met1101_Arg1102delinsIleGly) c.*3017_*3018delinsAG (n.*3017_*3018delinsAG) c.3120_3121delinsAG (p.Met1040_Arg1041delinsIleGly) c.*1603_*1604delinsAG (n.*1603_*1604delinsAG) c.*3127_*3128delinsAG (n.*3127_*3128delinsAG) c.2877_2878delinsAG (p.Met959_Arg960delinsIleGly) c.51_52delinsAG (p.Met17_Arg18delinsIleGly) c.894_895delinsAG (p.Met298_Arg299delinsIleGly) c.953_954delinsAG c.2085_2086delinsAG (p.Met695_Arg696delinsIleGly) c.3213_3214delinsAG (p.Met1071_Arg1072delinsIleGly) c.128_129delinsAG c.3393_3394delinsAG (p.Met1131_Arg1132delinsIleGly) c.3060_3061delinsAG (p.Met1020_Arg1021delinsIleGly) | ClinVar |
| 7 | g.117611745A= | CA1737387470 | CFTR | c.3304A= (p.Arg1102=) c.*3018A= (n.*3018A=) c.3121A= (p.Arg1041=) c.*1604A= (n.*1604A=) c.*3128A= (n.*3128A=) c.2878A= (p.Arg960=) c.52A= (p.Arg18=) c.895A= (p.Arg299=) c.954A= c.2086A= (p.Arg696=) c.3214A= (p.Arg1072=) c.129A= c.3394A= (p.Arg1132=) c.3061A= (p.Arg1021=) | |
| 7 | g.117611745A>C | CA457230072 | CFTR | c.3304A>C (p.Arg1102=) c.*3018A>C (n.*3018A>C) c.3121A>C (p.Arg1041=) c.*1604A>C (n.*1604A>C) c.*3128A>C (n.*3128A>C) c.2878A>C (p.Arg960=) c.52A>C (p.Arg18=) c.895A>C (p.Arg299=) c.954A>C c.2086A>C (p.Arg696=) c.3214A>C (p.Arg1072=) c.129A>C c.3394A>C (p.Arg1132=) c.3061A>C (p.Arg1021=) | |
| 7 | g.117611745A>G | CA368992457 | CFTR | c.3304A>G (p.Arg1102Gly) c.*3018A>G (n.*3018A>G) c.3121A>G (p.Arg1041Gly) c.*1604A>G (n.*1604A>G) c.*3128A>G (n.*3128A>G) c.2878A>G (p.Arg960Gly) c.52A>G (p.Arg18Gly) c.895A>G (p.Arg299Gly) c.954A>G c.2086A>G (p.Arg696Gly) c.3214A>G (p.Arg1072Gly) c.129A>G c.3394A>G (p.Arg1132Gly) c.3061A>G (p.Arg1021Gly) | |
| 7 | g.117611745A>T | CA327138 | CFTR | c.3304A>T (p.Arg1102Ter) c.*3018A>T (n.*3018A>T) c.3121A>T (p.Arg1041Ter) c.*1604A>T (n.*1604A>T) c.*3128A>T (n.*3128A>T) c.2878A>T (p.Arg960Ter) c.52A>T (p.Arg18Ter) c.895A>T (p.Arg299Ter) c.954A>T c.2086A>T (p.Arg696Ter) c.3214A>T (p.Arg1072Ter) c.129A>T c.3394A>T (p.Arg1132Ter) c.3061A>T (p.Arg1021Ter) | ClinVar dbSNP |
| 7 | g.117611746G>A | CA164966739 | CFTR | c.3305G>A (p.Arg1102Lys) c.*3019G>A (n.*3019G>A) c.3122G>A (p.Arg1041Lys) c.*1605G>A (n.*1605G>A) c.*3129G>A (n.*3129G>A) c.2879G>A (p.Arg960Lys) c.53G>A (p.Arg18Lys) c.896G>A (p.Arg299Lys) c.955G>A c.2087G>A (p.Arg696Lys) c.3215G>A (p.Arg1072Lys) c.130G>A c.3395G>A (p.Arg1132Lys) c.3062G>A (p.Arg1021Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117611746G>C | CA368992460 | CFTR | c.3305G>C (p.Arg1102Thr) c.*3019G>C (n.*3019G>C) c.3122G>C (p.Arg1041Thr) c.*1605G>C (n.*1605G>C) c.*3129G>C (n.*3129G>C) c.2879G>C (p.Arg960Thr) c.53G>C (p.Arg18Thr) c.896G>C (p.Arg299Thr) c.955G>C c.2087G>C (p.Arg696Thr) c.3215G>C (p.Arg1072Thr) c.130G>C c.3395G>C (p.Arg1132Thr) c.3062G>C (p.Arg1021Thr) | |
| 7 | g.117611746G= | CA1737387478 | CFTR | c.3305G= (p.Arg1102=) c.*3019G= (n.*3019G=) c.3122G= (p.Arg1041=) c.*1605G= (n.*1605G=) c.*3129G= (n.*3129G=) c.2879G= (p.Arg960=) c.53G= (p.Arg18=) c.896G= (p.Arg299=) c.955G= c.2087G= (p.Arg696=) c.3215G= (p.Arg1072=) c.130G= c.3395G= (p.Arg1132=) c.3062G= (p.Arg1021=) | |
| 7 | g.117611746G>T | CA368992462 | CFTR | c.3305G>T (p.Arg1102Ile) c.*3019G>T (n.*3019G>T) c.3122G>T (p.Arg1041Ile) c.*1605G>T (n.*1605G>T) c.*3129G>T (n.*3129G>T) c.2879G>T (p.Arg960Ile) c.53G>T (p.Arg18Ile) c.896G>T (p.Arg299Ile) c.955G>T c.2087G>T (p.Arg696Ile) c.3215G>T (p.Arg1072Ile) c.130G>T c.3395G>T (p.Arg1132Ile) c.3062G>T (p.Arg1021Ile) | |
| 7 | g.117611747A= | CA1737387487 | CFTR | c.3306A= (p.Arg1102=) c.*3020A= (n.*3020A=) c.3123A= (p.Arg1041=) c.*1606A= (n.*1606A=) c.*3130A= (n.*3130A=) c.2880A= (p.Arg960=) c.54A= (p.Arg18=) c.897A= (p.Arg299=) c.956A= c.2088A= (p.Arg696=) c.3216A= (p.Arg1072=) c.131A= c.3396A= (p.Arg1132=) c.3063A= (p.Arg1021=) | |
| 7 | g.117611747A>C | CA368992464 | CFTR | c.3306A>C (p.Arg1102Ser) c.*3020A>C (n.*3020A>C) c.3123A>C (p.Arg1041Ser) c.*1606A>C (n.*1606A>C) c.*3130A>C (n.*3130A>C) c.2880A>C (p.Arg960Ser) c.54A>C (p.Arg18Ser) c.897A>C (p.Arg299Ser) c.956A>C c.2088A>C (p.Arg696Ser) c.3216A>C (p.Arg1072Ser) c.131A>C c.3396A>C (p.Arg1132Ser) c.3063A>C (p.Arg1021Ser) | ClinVar |
| 7 | g.117611747A>G | CA4451422 | CFTR | c.3306A>G (p.Arg1102=) c.*3020A>G (n.*3020A>G) c.3123A>G (p.Arg1041=) c.*1606A>G (n.*1606A>G) c.*3130A>G (n.*3130A>G) c.2880A>G (p.Arg960=) c.54A>G (p.Arg18=) c.897A>G (p.Arg299=) c.956A>G c.2088A>G (p.Arg696=) c.3216A>G (p.Arg1072=) c.131A>G c.3396A>G (p.Arg1132=) c.3063A>G (p.Arg1021=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611747A>T | CA368992465 | CFTR | c.3306A>T (p.Arg1102Ser) c.*3020A>T (n.*3020A>T) c.3123A>T (p.Arg1041Ser) c.*1606A>T (n.*1606A>T) c.*3130A>T (n.*3130A>T) c.2880A>T (p.Arg960Ser) c.54A>T (p.Arg18Ser) c.897A>T (p.Arg299Ser) c.956A>T c.2088A>T (p.Arg696Ser) c.3216A>T (p.Arg1072Ser) c.131A>T c.3396A>T (p.Arg1132Ser) c.3063A>T (p.Arg1021Ser) | |
| 7 | g.117611748del | CA2695208438 | CFTR | c.3307del (p.Ile1103Ter) c.*3021del (n.*3021del) c.3124del (p.Ile1042Ter) c.*1607del (n.*1607del) c.*3131del (n.*3131del) c.2881del (p.Ile961Ter) c.55del (p.Ile19Ter) c.898del (p.Ile300Ter) c.957del c.2089del (p.Ile697Ter) c.3217del (p.Ile1073Ter) c.132del c.3397del (p.Ile1133Ter) c.3064del (p.Ile1022Ter) | |
| 7 | g.117611748A>C | CA368992467 | CFTR | c.3307A>C (p.Ile1103Leu) c.*3021A>C (n.*3021A>C) c.3124A>C (p.Ile1042Leu) c.*1607A>C (n.*1607A>C) c.*3131A>C (n.*3131A>C) c.2881A>C (p.Ile961Leu) c.55A>C (p.Ile19Leu) c.898A>C (p.Ile300Leu) c.957A>C c.2089A>C (p.Ile697Leu) c.3217A>C (p.Ile1073Leu) c.132A>C c.3397A>C (p.Ile1133Leu) c.3064A>C (p.Ile1022Leu) | |
| 7 | g.117611748A>G | CA368992469 | CFTR | c.3307A>G (p.Ile1103Val) c.*3021A>G (n.*3021A>G) c.3124A>G (p.Ile1042Val) c.*1607A>G (n.*1607A>G) c.*3131A>G (n.*3131A>G) c.2881A>G (p.Ile961Val) c.55A>G (p.Ile19Val) c.898A>G (p.Ile300Val) c.957A>G c.2089A>G (p.Ile697Val) c.3217A>G (p.Ile1073Val) c.132A>G c.3397A>G (p.Ile1133Val) c.3064A>G (p.Ile1022Val) | gnomAD v4 |
| 7 | g.117611748A>T | CA368992470 | CFTR | c.3307A>T (p.Ile1103Leu) c.*3021A>T (n.*3021A>T) c.3124A>T (p.Ile1042Leu) c.*1607A>T (n.*1607A>T) c.*3131A>T (n.*3131A>T) c.2881A>T (p.Ile961Leu) c.55A>T (p.Ile19Leu) c.898A>T (p.Ile300Leu) c.957A>T c.2089A>T (p.Ile697Leu) c.3217A>T (p.Ile1073Leu) c.132A>T c.3397A>T (p.Ile1133Leu) c.3064A>T (p.Ile1022Leu) | |
| 7 | g.117611749T>A | CA368992473 | CFTR | c.3308T>A (p.Ile1103Lys) c.*3022T>A (n.*3022T>A) c.3125T>A (p.Ile1042Lys) c.*1608T>A (n.*1608T>A) c.*3132T>A (n.*3132T>A) c.2882T>A (p.Ile961Lys) c.56T>A (p.Ile19Lys) c.899T>A (p.Ile300Lys) c.958T>A c.2090T>A (p.Ile697Lys) c.3218T>A (p.Ile1073Lys) c.133T>A c.3398T>A (p.Ile1133Lys) c.3065T>A (p.Ile1022Lys) | |
| 7 | g.117611749T>C | CA368992474 | CFTR | c.3308T>C (p.Ile1103Thr) c.*3022T>C (n.*3022T>C) c.3125T>C (p.Ile1042Thr) c.*1608T>C (n.*1608T>C) c.*3132T>C (n.*3132T>C) c.2882T>C (p.Ile961Thr) c.56T>C (p.Ile19Thr) c.899T>C (p.Ile300Thr) c.958T>C c.2090T>C (p.Ile697Thr) c.3218T>C (p.Ile1073Thr) c.133T>C c.3398T>C (p.Ile1133Thr) c.3065T>C (p.Ile1022Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117611749T>G | CA368992476 | CFTR | c.3308T>G (p.Ile1103Arg) c.*3022T>G (n.*3022T>G) c.3125T>G (p.Ile1042Arg) c.*1608T>G (n.*1608T>G) c.*3132T>G (n.*3132T>G) c.2882T>G (p.Ile961Arg) c.56T>G (p.Ile19Arg) c.899T>G (p.Ile300Arg) c.958T>G c.2090T>G (p.Ile697Arg) c.3218T>G (p.Ile1073Arg) c.133T>G c.3398T>G (p.Ile1133Arg) c.3065T>G (p.Ile1022Arg) | ClinVar |
| 7 | g.117611749T= | CA1737387495 | CFTR | c.3308T= (p.Ile1103=) c.*3022T= (n.*3022T=) c.3125T= (p.Ile1042=) c.*1608T= (n.*1608T=) c.*3132T= (n.*3132T=) c.2882T= (p.Ile961=) c.56T= (p.Ile19=) c.899T= (p.Ile300=) c.958T= c.2090T= (p.Ile697=) c.3218T= (p.Ile1073=) c.133T= c.3398T= (p.Ile1133=) c.3065T= (p.Ile1022=) | |
| 7 | g.117611750A= | CA1737387504 | CFTR | c.3309A= (p.Ile1103=) c.*3023A= (n.*3023A=) c.3126A= (p.Ile1042=) c.*1609A= (n.*1609A=) c.*3133A= (n.*3133A=) c.2883A= (p.Ile961=) c.57A= (p.Ile19=) c.900A= (p.Ile300=) c.959A= c.2091A= (p.Ile697=) c.3219A= (p.Ile1073=) c.134A= c.3399A= (p.Ile1133=) c.3066A= (p.Ile1022=) | |
| 7 | g.117611750A>C | CA457230073 | CFTR | c.3309A>C (p.Ile1103=) c.*3023A>C (n.*3023A>C) c.3126A>C (p.Ile1042=) c.*1609A>C (n.*1609A>C) c.*3133A>C (n.*3133A>C) c.2883A>C (p.Ile961=) c.57A>C (p.Ile19=) c.900A>C (p.Ile300=) c.959A>C c.2091A>C (p.Ile697=) c.3219A>C (p.Ile1073=) c.134A>C c.3399A>C (p.Ile1133=) c.3066A>C (p.Ile1022=) | |
| 7 | g.117611750A>G | CA368992478 | CFTR | c.3309A>G (p.Ile1103Met) c.*3023A>G (n.*3023A>G) c.3126A>G (p.Ile1042Met) c.*1609A>G (n.*1609A>G) c.*3133A>G (n.*3133A>G) c.2883A>G (p.Ile961Met) c.57A>G (p.Ile19Met) c.900A>G (p.Ile300Met) c.959A>G c.2091A>G (p.Ile697Met) c.3219A>G (p.Ile1073Met) c.134A>G c.3399A>G (p.Ile1133Met) c.3066A>G (p.Ile1022Met) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.117611750A>T | CA457230074 | CFTR | c.3309A>T (p.Ile1103=) c.*3023A>T (n.*3023A>T) c.3126A>T (p.Ile1042=) c.*1609A>T (n.*1609A>T) c.*3133A>T (n.*3133A>T) c.2883A>T (p.Ile961=) c.57A>T (p.Ile19=) c.900A>T (p.Ile300=) c.959A>T c.2091A>T (p.Ile697=) c.3219A>T (p.Ile1073=) c.134A>T c.3399A>T (p.Ile1133=) c.3066A>T (p.Ile1022=) | |
| 7 | g.117611751G>A | CA368992480 | CFTR | c.3310G>A (p.Glu1104Lys) c.*3024G>A (n.*3024G>A) c.3127G>A (p.Glu1043Lys) c.*1610G>A (n.*1610G>A) c.*3134G>A (n.*3134G>A) c.2884G>A (p.Glu962Lys) c.58G>A (p.Glu20Lys) c.901G>A (p.Glu301Lys) c.960G>A c.2092G>A (p.Glu698Lys) c.3220G>A (p.Glu1074Lys) c.135G>A c.3400G>A (p.Glu1134Lys) c.3067G>A (p.Glu1023Lys) | |
| 7 | g.117611751G>C | CA368992483 | CFTR | c.3310G>C (p.Glu1104Gln) c.*3024G>C (n.*3024G>C) c.3127G>C (p.Glu1043Gln) c.*1610G>C (n.*1610G>C) c.*3134G>C (n.*3134G>C) c.2884G>C (p.Glu962Gln) c.58G>C (p.Glu20Gln) c.901G>C (p.Glu301Gln) c.960G>C c.2092G>C (p.Glu698Gln) c.3220G>C (p.Glu1074Gln) c.135G>C c.3400G>C (p.Glu1134Gln) c.3067G>C (p.Glu1023Gln) | |
| 7 | g.117611751G= | CA1737387511 | CFTR | c.3310G= (p.Glu1104=) c.*3024G= (n.*3024G=) c.3127G= (p.Glu1043=) c.*1610G= (n.*1610G=) c.*3134G= (n.*3134G=) c.2884G= (p.Glu962=) c.58G= (p.Glu20=) c.901G= (p.Glu301=) c.960G= c.2092G= (p.Glu698=) c.3220G= (p.Glu1074=) c.135G= c.3400G= (p.Glu1134=) c.3067G= (p.Glu1023=) | |
| 7 | g.117611751G>T | CA328113 | CFTR | c.3310G>T (p.Glu1104Ter) c.*3024G>T (n.*3024G>T) c.3127G>T (p.Glu1043Ter) c.*1610G>T (n.*1610G>T) c.*3134G>T (n.*3134G>T) c.2884G>T (p.Glu962Ter) c.58G>T (p.Glu20Ter) c.901G>T (p.Glu301Ter) c.960G>T c.2092G>T (p.Glu698Ter) c.3220G>T (p.Glu1074Ter) c.135G>T c.3400G>T (p.Glu1134Ter) c.3067G>T (p.Glu1023Ter) | ClinVar dbSNP COSMIC |
| 7 | g.117611752A>C | CA368992484 | CFTR | c.3311A>C (p.Glu1104Ala) c.*3025A>C (n.*3025A>C) c.3128A>C (p.Glu1043Ala) c.*1611A>C (n.*1611A>C) c.*3135A>C (n.*3135A>C) c.2885A>C (p.Glu962Ala) c.59A>C (p.Glu20Ala) c.902A>C (p.Glu301Ala) c.961A>C c.2093A>C (p.Glu698Ala) c.3221A>C (p.Glu1074Ala) c.136A>C c.3401A>C (p.Glu1134Ala) c.3068A>C (p.Glu1023Ala) | |
| 7 | g.117611752A>G | CA368992486 | CFTR | c.3311A>G (p.Glu1104Gly) c.*3025A>G (n.*3025A>G) c.3128A>G (p.Glu1043Gly) c.*1611A>G (n.*1611A>G) c.*3135A>G (n.*3135A>G) c.2885A>G (p.Glu962Gly) c.59A>G (p.Glu20Gly) c.902A>G (p.Glu301Gly) c.961A>G c.2093A>G (p.Glu698Gly) c.3221A>G (p.Glu1074Gly) c.136A>G c.3401A>G (p.Glu1134Gly) c.3068A>G (p.Glu1023Gly) | |
| 7 | g.117611752A>T | CA368992488 | CFTR | c.3311A>T (p.Glu1104Val) c.*3025A>T (n.*3025A>T) c.3128A>T (p.Glu1043Val) c.*1611A>T (n.*1611A>T) c.*3135A>T (n.*3135A>T) c.2885A>T (p.Glu962Val) c.59A>T (p.Glu20Val) c.902A>T (p.Glu301Val) c.961A>T c.2093A>T (p.Glu698Val) c.3221A>T (p.Glu1074Val) c.136A>T c.3401A>T (p.Glu1134Val) c.3068A>T (p.Glu1023Val) | |
| 7 | g.117611754del | CA2684588444 | CFTR | c.3313del (p.Met1105Ter) c.*3027del (n.*3027del) c.3130del (p.Met1044Ter) c.*1613del (n.*1613del) c.*3137del (n.*3137del) c.2887del (p.Met963Ter) c.61del (p.Met21Ter) c.904del (p.Met302Ter) c.963del c.2095del (p.Met699Ter) c.3223del (p.Met1075Ter) c.138del c.3403del (p.Met1135Ter) c.3070del (p.Met1024Ter) | gnomAD v4 |
| 7 | g.117611753A>C | CA368992490 | CFTR | c.3312A>C (p.Glu1104Asp) c.*3026A>C (n.*3026A>C) c.3129A>C (p.Glu1043Asp) c.*1612A>C (n.*1612A>C) c.*3136A>C (n.*3136A>C) c.2886A>C (p.Glu962Asp) c.60A>C (p.Glu20Asp) c.903A>C (p.Glu301Asp) c.962A>C c.2094A>C (p.Glu698Asp) c.3222A>C (p.Glu1074Asp) c.137A>C c.3402A>C (p.Glu1134Asp) c.3069A>C (p.Glu1023Asp) | |
| 7 | g.117611753A>G | CA457230075 | CFTR | c.3312A>G (p.Glu1104=) c.*3026A>G (n.*3026A>G) c.3129A>G (p.Glu1043=) c.*1612A>G (n.*1612A>G) c.*3136A>G (n.*3136A>G) c.2886A>G (p.Glu962=) c.60A>G (p.Glu20=) c.903A>G (p.Glu301=) c.962A>G c.2094A>G (p.Glu698=) c.3222A>G (p.Glu1074=) c.137A>G c.3402A>G (p.Glu1134=) c.3069A>G (p.Glu1023=) | |
| 7 | g.117611753A>T | CA368992492 | CFTR | c.3312A>T (p.Glu1104Asp) c.*3026A>T (n.*3026A>T) c.3129A>T (p.Glu1043Asp) c.*1612A>T (n.*1612A>T) c.*3136A>T (n.*3136A>T) c.2886A>T (p.Glu962Asp) c.60A>T (p.Glu20Asp) c.903A>T (p.Glu301Asp) c.962A>T c.2094A>T (p.Glu698Asp) c.3222A>T (p.Glu1074Asp) c.137A>T c.3402A>T (p.Glu1134Asp) c.3069A>T (p.Glu1023Asp) | |
| 7 | g.117611754A= | CA1737387519 | CFTR | c.3313A= (p.Met1105=) c.*3027A= (n.*3027A=) c.3130A= (p.Met1044=) c.*1613A= (n.*1613A=) c.*3137A= (n.*3137A=) c.2887A= (p.Met963=) c.61A= (p.Met21=) c.904A= (p.Met302=) c.963A= c.2095A= (p.Met699=) c.3223A= (p.Met1075=) c.138A= c.3403A= (p.Met1135=) c.3070A= (p.Met1024=) |