| 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.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=) | |
| 7 | g.117611754A>C | CA368992494 | CFTR | c.3313A>C (p.Met1105Leu) c.*3027A>C (n.*3027A>C) c.3130A>C (p.Met1044Leu) c.*1613A>C (n.*1613A>C) c.*3137A>C (n.*3137A>C) c.2887A>C (p.Met963Leu) c.61A>C (p.Met21Leu) c.904A>C (p.Met302Leu) c.963A>C c.2095A>C (p.Met699Leu) c.3223A>C (p.Met1075Leu) c.138A>C c.3403A>C (p.Met1135Leu) c.3070A>C (p.Met1024Leu) | |
| 7 | g.117611754A>G | CA368992496 | CFTR | c.3313A>G (p.Met1105Val) c.*3027A>G (n.*3027A>G) c.3130A>G (p.Met1044Val) c.*1613A>G (n.*1613A>G) c.*3137A>G (n.*3137A>G) c.2887A>G (p.Met963Val) c.61A>G (p.Met21Val) c.904A>G (p.Met302Val) c.963A>G c.2095A>G (p.Met699Val) c.3223A>G (p.Met1075Val) c.138A>G c.3403A>G (p.Met1135Val) c.3070A>G (p.Met1024Val) | gnomAD v4 |
| 7 | g.117611754A>T | CA368992498 | CFTR | c.3313A>T (p.Met1105Leu) c.*3027A>T (n.*3027A>T) c.3130A>T (p.Met1044Leu) c.*1613A>T (n.*1613A>T) c.*3137A>T (n.*3137A>T) c.2887A>T (p.Met963Leu) c.61A>T (p.Met21Leu) c.904A>T (p.Met302Leu) c.963A>T c.2095A>T (p.Met699Leu) c.3223A>T (p.Met1075Leu) c.138A>T c.3403A>T (p.Met1135Leu) c.3070A>T (p.Met1024Leu) | |
| 7 | g.117611754_117611755insACAT | CA577680855 | CFTR | c.3313_3314insACAT (p.Met1105AsnfsTer?) c.*3027_*3028insACAT (n.*3027_*3028insACAT) c.3130_3131insACAT (p.Met1044AsnfsTer?) c.*1613_*1614insACAT (n.*1613_*1614insACAT) c.*3137_*3138insACAT (n.*3137_*3138insACAT) c.2887_2888insACAT (p.Met963AsnfsTer?) c.61_62insACAT (p.Met21AsnfsTer?) c.904_905insACAT (p.Met302AsnfsTer?) c.963_964insACAT c.2095_2096insACAT (p.Met699AsnfsTer?) c.3223_3224insACAT (p.Met1075AsnfsTer?) c.138_139insACAT c.3403_3404insACAT (p.Met1135AsnfsTer?) c.3070_3071insACAT (p.Met1024AsnfsTer?) | dbSNP gnomAD v2 |
| 7 | g.117611755T>A | CA368992500 | CFTR | c.3314T>A (p.Met1105Lys) c.*3028T>A (n.*3028T>A) c.3131T>A (p.Met1044Lys) c.*1614T>A (n.*1614T>A) c.*3138T>A (n.*3138T>A) c.2888T>A (p.Met963Lys) c.62T>A (p.Met21Lys) c.905T>A (p.Met302Lys) c.964T>A c.2096T>A (p.Met699Lys) c.3224T>A (p.Met1075Lys) c.139T>A c.3404T>A (p.Met1135Lys) c.3071T>A (p.Met1024Lys) | |
| 7 | g.117611755T>C | CA368992502 | CFTR | c.3314T>C (p.Met1105Thr) c.*3028T>C (n.*3028T>C) c.3131T>C (p.Met1044Thr) c.*1614T>C (n.*1614T>C) c.*3138T>C (n.*3138T>C) c.2888T>C (p.Met963Thr) c.62T>C (p.Met21Thr) c.905T>C (p.Met302Thr) c.964T>C c.2096T>C (p.Met699Thr) c.3224T>C (p.Met1075Thr) c.139T>C c.3404T>C (p.Met1135Thr) c.3071T>C (p.Met1024Thr) | |
| 7 | g.117611755T>G | CA327142 | CFTR | c.3314T>G (p.Met1105Arg) c.*3028T>G (n.*3028T>G) c.3131T>G (p.Met1044Arg) c.*1614T>G (n.*1614T>G) c.*3138T>G (n.*3138T>G) c.2888T>G (p.Met963Arg) c.62T>G (p.Met21Arg) c.905T>G (p.Met302Arg) c.964T>G c.2096T>G (p.Met699Arg) c.3224T>G (p.Met1075Arg) c.139T>G c.3404T>G (p.Met1135Arg) c.3071T>G (p.Met1024Arg) | ClinVar dbSNP |
| 7 | g.117611755T= | CA1737387528 | CFTR | c.3314T= (p.Met1105=) c.*3028T= (n.*3028T=) c.3131T= (p.Met1044=) c.*1614T= (n.*1614T=) c.*3138T= (n.*3138T=) c.2888T= (p.Met963=) c.62T= (p.Met21=) c.905T= (p.Met302=) c.964T= c.2096T= (p.Met699=) c.3224T= (p.Met1075=) c.139T= c.3404T= (p.Met1135=) c.3071T= (p.Met1024=) | |
| 7 | g.117611755_117611756delinsTG | CA1737387533 | CFTR | c.3314_3315delinsTG (p.Met1105=) c.*3028_*3029delinsTG (n.*3028_*3029delinsTG) c.3131_3132delinsTG (p.Met1044=) c.*1614_*1615delinsTG (n.*1614_*1615delinsTG) c.*3138_*3139delinsTG (n.*3138_*3139delinsTG) c.2888_2889delinsTG (p.Met963=) c.62_63delinsTG (p.Met21=) c.905_906delinsTG (p.Met302=) c.964_965delinsTG c.2096_2097delinsTG (p.Met699=) c.3224_3225delinsTG (p.Met1075=) c.139_140delinsTG c.3404_3405delinsTG (p.Met1135=) c.3071_3072delinsTG (p.Met1024=) | |
| 7 | g.117611756del | CA327144 | CFTR | c.3315del (p.Met1105IlefsTer16) c.*3029del (n.*3029del) c.3132del (p.Met1044IlefsTer16) c.*1615del (n.*1615del) c.*3139del (n.*3139del) c.2889del (p.Met963IlefsTer16) c.63del (p.Met21IlefsTer16) c.906del (p.Met302IlefsTer16) c.965del c.2097del (p.Met699IlefsTer16) c.3225del (p.Met1075IlefsTer16) c.140del c.3405del (p.Met1135IlefsTer16) c.3072del (p.Met1024IlefsTer16) | ClinVar dbSNP |
| 7 | g.117611756G>A | CA368992503 | CFTR | c.3315G>A (p.Met1105Ile) c.*3029G>A (n.*3029G>A) c.3132G>A (p.Met1044Ile) c.*1615G>A (n.*1615G>A) c.*3139G>A (n.*3139G>A) c.2889G>A (p.Met963Ile) c.63G>A (p.Met21Ile) c.906G>A (p.Met302Ile) c.965G>A c.2097G>A (p.Met699Ile) c.3225G>A (p.Met1075Ile) c.140G>A c.3405G>A (p.Met1135Ile) c.3072G>A (p.Met1024Ile) | COSMIC |
| 7 | g.117611756G>C | CA368992505 | CFTR | c.3315G>C (p.Met1105Ile) c.*3029G>C (n.*3029G>C) c.3132G>C (p.Met1044Ile) c.*1615G>C (n.*1615G>C) c.*3139G>C (n.*3139G>C) c.2889G>C (p.Met963Ile) c.63G>C (p.Met21Ile) c.906G>C (p.Met302Ile) c.965G>C c.2097G>C (p.Met699Ile) c.3225G>C (p.Met1075Ile) c.140G>C c.3405G>C (p.Met1135Ile) c.3072G>C (p.Met1024Ile) | |
| 7 | g.117611756G= | CA1737387551 | CFTR | c.3315G= (p.Met1105=) c.*3029G= (n.*3029G=) c.3132G= (p.Met1044=) c.*1615G= (n.*1615G=) c.*3139G= (n.*3139G=) c.2889G= (p.Met963=) c.63G= (p.Met21=) c.906G= (p.Met302=) c.965G= c.2097G= (p.Met699=) c.3225G= (p.Met1075=) c.140G= c.3405G= (p.Met1135=) c.3072G= (p.Met1024=) | |
| 7 | g.117611756G>T | CA368992507 | CFTR | c.3315G>T (p.Met1105Ile) c.*3029G>T (n.*3029G>T) c.3132G>T (p.Met1044Ile) c.*1615G>T (n.*1615G>T) c.*3139G>T (n.*3139G>T) c.2889G>T (p.Met963Ile) c.63G>T (p.Met21Ile) c.906G>T (p.Met302Ile) c.965G>T c.2097G>T (p.Met699Ile) c.3225G>T (p.Met1075Ile) c.140G>T c.3405G>T (p.Met1135Ile) c.3072G>T (p.Met1024Ile) | ClinVar dbSNP |
| 7 | g.117611756_117611757insCAAATAACATAAACACAAAATGTA | CA577680856 | CFTR | c.3315_3316insCAAATAACATAAACACAAAATGTA c.*3029_*3030insCAAATAACATAAACACAAAATGTA (n.*3029_*3030insCAAATAACATAAACACAAAATGTA) c.3132_3133insCAAATAACATAAACACAAAATGTA c.*1615_*1616insCAAATAACATAAACACAAAATGTA (n.*1615_*1616insCAAATAACATAAACACAAAATGTA) c.*3139_*3140insCAAATAACATAAACACAAAATGTA (n.*3139_*3140insCAAATAACATAAACACAAAATGTA) c.2889_2890insCAAATAACATAAACACAAAATGTA c.63_64insCAAATAACATAAACACAAAATGTA c.906_907insCAAATAACATAAACACAAAATGTA c.965_966insCAAATAACATAAACACAAAATGTA c.2097_2098insCAAATAACATAAACACAAAATGTA c.3225_3226insCAAATAACATAAACACAAAATGTA c.140_141insCAAATAACATAAACACAAAATGTA c.3405_3406insCAAATAACATAAACACAAAATGTA c.3072_3073insCAAATAACATAAACACAAAATGTA | dbSNP gnomAD v2 |
| 7 | g.117611757A>C | CA368992509 | CFTR | c.3316A>C (p.Ile1106Leu) c.*3030A>C (n.*3030A>C) c.3133A>C (p.Ile1045Leu) c.*1616A>C (n.*1616A>C) c.*3140A>C (n.*3140A>C) c.2890A>C (p.Ile964Leu) c.64A>C (p.Ile22Leu) c.907A>C (p.Ile303Leu) c.966A>C c.2098A>C (p.Ile700Leu) c.3226A>C (p.Ile1076Leu) c.141A>C c.3406A>C (p.Ile1136Leu) c.3073A>C (p.Ile1025Leu) | |
| 7 | g.117611757A>G | CA368992511 | CFTR | c.3316A>G (p.Ile1106Val) c.*3030A>G (n.*3030A>G) c.3133A>G (p.Ile1045Val) c.*1616A>G (n.*1616A>G) c.*3140A>G (n.*3140A>G) c.2890A>G (p.Ile964Val) c.64A>G (p.Ile22Val) c.907A>G (p.Ile303Val) c.966A>G c.2098A>G (p.Ile700Val) c.3226A>G (p.Ile1076Val) c.141A>G c.3406A>G (p.Ile1136Val) c.3073A>G (p.Ile1025Val) | |
| 7 | g.117611757A>T | CA368992512 | CFTR | c.3316A>T (p.Ile1106Phe) c.*3030A>T (n.*3030A>T) c.3133A>T (p.Ile1045Phe) c.*1616A>T (n.*1616A>T) c.*3140A>T (n.*3140A>T) c.2890A>T (p.Ile964Phe) c.64A>T (p.Ile22Phe) c.907A>T (p.Ile303Phe) c.966A>T c.2098A>T (p.Ile700Phe) c.3226A>T (p.Ile1076Phe) c.141A>T c.3406A>T (p.Ile1136Phe) c.3073A>T (p.Ile1025Phe) | |
| 7 | g.117611758T>A | CA368992514 | CFTR | c.3317T>A (p.Ile1106Asn) c.*3031T>A (n.*3031T>A) c.3134T>A (p.Ile1045Asn) c.*1617T>A (n.*1617T>A) c.*3141T>A (n.*3141T>A) c.2891T>A (p.Ile964Asn) c.65T>A (p.Ile22Asn) c.908T>A (p.Ile303Asn) c.967T>A c.2099T>A (p.Ile700Asn) c.3227T>A (p.Ile1076Asn) c.142T>A c.3407T>A (p.Ile1136Asn) c.3074T>A (p.Ile1025Asn) | |
| 7 | g.117611758T>C | CA4451423 | CFTR | c.3317T>C (p.Ile1106Thr) c.*3031T>C (n.*3031T>C) c.3134T>C (p.Ile1045Thr) c.*1617T>C (n.*1617T>C) c.*3141T>C (n.*3141T>C) c.2891T>C (p.Ile964Thr) c.65T>C (p.Ile22Thr) c.908T>C (p.Ile303Thr) c.967T>C c.2099T>C (p.Ile700Thr) c.3227T>C (p.Ile1076Thr) c.142T>C c.3407T>C (p.Ile1136Thr) c.3074T>C (p.Ile1025Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117611758T>G | CA368992517 | CFTR | c.3317T>G (p.Ile1106Ser) c.*3031T>G (n.*3031T>G) c.3134T>G (p.Ile1045Ser) c.*1617T>G (n.*1617T>G) c.*3141T>G (n.*3141T>G) c.2891T>G (p.Ile964Ser) c.65T>G (p.Ile22Ser) c.908T>G (p.Ile303Ser) c.967T>G c.2099T>G (p.Ile700Ser) c.3227T>G (p.Ile1076Ser) c.142T>G c.3407T>G (p.Ile1136Ser) c.3074T>G (p.Ile1025Ser) | gnomAD v4 |
| 7 | g.117611758T= | CA1737387565 | CFTR | c.3317T= (p.Ile1106=) c.*3031T= (n.*3031T=) c.3134T= (p.Ile1045=) c.*1617T= (n.*1617T=) c.*3141T= (n.*3141T=) c.2891T= (p.Ile964=) c.65T= (p.Ile22=) c.908T= (p.Ile303=) c.967T= c.2099T= (p.Ile700=) c.3227T= (p.Ile1076=) c.142T= c.3407T= (p.Ile1136=) c.3074T= (p.Ile1025=) | |
| 7 | g.117611759T>A | CA457230076 | CFTR | c.3318T>A (p.Ile1106=) c.*3032T>A (n.*3032T>A) c.3135T>A (p.Ile1045=) c.*1618T>A (n.*1618T>A) c.*3142T>A (n.*3142T>A) c.2892T>A (p.Ile964=) c.66T>A (p.Ile22=) c.909T>A (p.Ile303=) c.968T>A c.2100T>A (p.Ile700=) c.3228T>A (p.Ile1076=) c.143T>A c.3408T>A (p.Ile1136=) c.3075T>A (p.Ile1025=) | ClinVar dbSNP |
| 7 | g.117611759T>C | CA457230077 | CFTR | c.3318T>C (p.Ile1106=) c.*3032T>C (n.*3032T>C) c.3135T>C (p.Ile1045=) c.*1618T>C (n.*1618T>C) c.*3142T>C (n.*3142T>C) c.2892T>C (p.Ile964=) c.66T>C (p.Ile22=) c.909T>C (p.Ile303=) c.968T>C c.2100T>C (p.Ile700=) c.3228T>C (p.Ile1076=) c.143T>C c.3408T>C (p.Ile1136=) c.3075T>C (p.Ile1025=) | |
| 7 | g.117611759T>G | CA368992519 | CFTR | c.3318T>G (p.Ile1106Met) c.*3032T>G (n.*3032T>G) c.3135T>G (p.Ile1045Met) c.*1618T>G (n.*1618T>G) c.*3142T>G (n.*3142T>G) c.2892T>G (p.Ile964Met) c.66T>G (p.Ile22Met) c.909T>G (p.Ile303Met) c.968T>G c.2100T>G (p.Ile700Met) c.3228T>G (p.Ile1076Met) c.143T>G c.3408T>G (p.Ile1136Met) c.3075T>G (p.Ile1025Met) |