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.117611735del | CA327134 | CFTR | c.3294del (p.Trp1098CysfsTer4) c.*3008del (n.*3008del) c.3111del (p.Trp1037CysfsTer4) c.*1594del (n.*1594del) c.*3118del (n.*3118del) c.2868del (p.Trp956CysfsTer4) c.42del (p.Trp14CysfsTer4) c.885del (p.Trp295CysfsTer4) c.944del c.2076del (p.Trp692CysfsTer4) c.3204del (p.Trp1068CysfsTer4) c.119del c.3384del (p.Trp1128CysfsTer4) c.3051del (p.Trp1017CysfsTer4) | ClinVar dbSNP |
7 | g.117611735G>A | CA276112 | CFTR | c.3294G>A (p.Trp1098Ter) c.*3008G>A (n.*3008G>A) c.3111G>A (p.Trp1037Ter) c.*1594G>A (n.*1594G>A) c.*3118G>A (n.*3118G>A) c.2868G>A (p.Trp956Ter) c.42G>A (p.Trp14Ter) c.885G>A (p.Trp295Ter) c.944G>A c.2076G>A (p.Trp692Ter) c.3204G>A (p.Trp1068Ter) c.119G>A c.3384G>A (p.Trp1128Ter) c.3051G>A (p.Trp1017Ter) | ClinVar dbSNP |
7 | g.117611735G>C | CA327132 | CFTR | c.3294G>C (p.Trp1098Cys) c.*3008G>C (n.*3008G>C) c.3111G>C (p.Trp1037Cys) c.*1594G>C (n.*1594G>C) c.*3118G>C (n.*3118G>C) c.2868G>C (p.Trp956Cys) c.42G>C (p.Trp14Cys) c.885G>C (p.Trp295Cys) c.944G>C c.2076G>C (p.Trp692Cys) c.3204G>C (p.Trp1068Cys) c.119G>C c.3384G>C (p.Trp1128Cys) c.3051G>C (p.Trp1017Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117611735G= | CA1737387422 | CFTR | c.3294G= (p.Trp1098=) c.*3008G= (n.*3008G=) c.3111G= (p.Trp1037=) c.*1594G= (n.*1594G=) c.*3118G= (n.*3118G=) c.2868G= (p.Trp956=) c.42G= (p.Trp14=) c.885G= (p.Trp295=) c.944G= c.2076G= (p.Trp692=) c.3204G= (p.Trp1068=) c.119G= c.3384G= (p.Trp1128=) c.3051G= (p.Trp1017=) | |
7 | g.117611735G>T | CA368992416 | CFTR | c.3294G>T (p.Trp1098Cys) c.*3008G>T (n.*3008G>T) c.3111G>T (p.Trp1037Cys) c.*1594G>T (n.*1594G>T) c.*3118G>T (n.*3118G>T) c.2868G>T (p.Trp956Cys) c.42G>T (p.Trp14Cys) c.885G>T (p.Trp295Cys) c.944G>T c.2076G>T (p.Trp692Cys) c.3204G>T (p.Trp1068Cys) c.119G>T c.3384G>T (p.Trp1128Cys) c.3051G>T (p.Trp1017Cys) | ClinVar dbSNP |
7 | g.117611736T>A | CA368992417 | CFTR | c.3295T>A (p.Phe1099Ile) c.*3009T>A (n.*3009T>A) c.3112T>A (p.Phe1038Ile) c.*1595T>A (n.*1595T>A) c.*3119T>A (n.*3119T>A) c.2869T>A (p.Phe957Ile) c.43T>A (p.Phe15Ile) c.886T>A (p.Phe296Ile) c.945T>A c.2077T>A (p.Phe693Ile) c.3205T>A (p.Phe1069Ile) c.120T>A c.3385T>A (p.Phe1129Ile) c.3052T>A (p.Phe1018Ile) | |
7 | g.117611736T>C | CA368992419 | CFTR | c.3295T>C (p.Phe1099Leu) c.*3009T>C (n.*3009T>C) c.3112T>C (p.Phe1038Leu) c.*1595T>C (n.*1595T>C) c.*3119T>C (n.*3119T>C) c.2869T>C (p.Phe957Leu) c.43T>C (p.Phe15Leu) c.886T>C (p.Phe296Leu) c.945T>C c.2077T>C (p.Phe693Leu) c.3205T>C (p.Phe1069Leu) c.120T>C c.3385T>C (p.Phe1129Leu) c.3052T>C (p.Phe1018Leu) | |
7 | g.117611736T>G | CA368992421 | CFTR | c.3295T>G (p.Phe1099Val) c.*3009T>G (n.*3009T>G) c.3112T>G (p.Phe1038Val) c.*1595T>G (n.*1595T>G) c.*3119T>G (n.*3119T>G) c.2869T>G (p.Phe957Val) c.43T>G (p.Phe15Val) c.886T>G (p.Phe296Val) c.945T>G c.2077T>G (p.Phe693Val) c.3205T>G (p.Phe1069Val) c.120T>G c.3385T>G (p.Phe1129Val) c.3052T>G (p.Phe1018Val) | |
7 | g.117611737T>A | CA368992423 | CFTR | c.3296T>A (p.Phe1099Tyr) c.*3010T>A (n.*3010T>A) c.3113T>A (p.Phe1038Tyr) c.*1596T>A (n.*1596T>A) c.*3120T>A (n.*3120T>A) c.2870T>A (p.Phe957Tyr) c.44T>A (p.Phe15Tyr) c.887T>A (p.Phe296Tyr) c.946T>A c.2078T>A (p.Phe693Tyr) c.3206T>A (p.Phe1069Tyr) c.121T>A c.3386T>A (p.Phe1129Tyr) c.3053T>A (p.Phe1018Tyr) | |
7 | g.117611737T>C | CA368992425 | CFTR | c.3296T>C (p.Phe1099Ser) c.*3010T>C (n.*3010T>C) c.3113T>C (p.Phe1038Ser) c.*1596T>C (n.*1596T>C) c.*3120T>C (n.*3120T>C) c.2870T>C (p.Phe957Ser) c.44T>C (p.Phe15Ser) c.887T>C (p.Phe296Ser) c.946T>C c.2078T>C (p.Phe693Ser) c.3206T>C (p.Phe1069Ser) c.121T>C c.3386T>C (p.Phe1129Ser) c.3053T>C (p.Phe1018Ser) | |
7 | g.117611737T>G | CA368992427 | CFTR | c.3296T>G (p.Phe1099Cys) c.*3010T>G (n.*3010T>G) c.3113T>G (p.Phe1038Cys) c.*1596T>G (n.*1596T>G) c.*3120T>G (n.*3120T>G) c.2870T>G (p.Phe957Cys) c.44T>G (p.Phe15Cys) c.887T>G (p.Phe296Cys) c.946T>G c.2078T>G (p.Phe693Cys) c.3206T>G (p.Phe1069Cys) c.121T>G c.3386T>G (p.Phe1129Cys) c.3053T>G (p.Phe1018Cys) | |
7 | g.117611738C>A | CA4451420 | CFTR | c.3297C>A (p.Phe1099Leu) c.*3011C>A (n.*3011C>A) c.3114C>A (p.Phe1038Leu) c.*1597C>A (n.*1597C>A) c.*3121C>A (n.*3121C>A) c.2871C>A (p.Phe957Leu) c.45C>A (p.Phe15Leu) c.888C>A (p.Phe296Leu) c.947C>A c.2079C>A (p.Phe693Leu) c.3207C>A (p.Phe1069Leu) c.122C>A c.3387C>A (p.Phe1129Leu) c.3054C>A (p.Phe1018Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611738C= | CA1737387437 | CFTR | c.3297C= (p.Phe1099=) c.*3011C= (n.*3011C=) c.3114C= (p.Phe1038=) c.*1597C= (n.*1597C=) c.*3121C= (n.*3121C=) c.2871C= (p.Phe957=) c.45C= (p.Phe15=) c.888C= (p.Phe296=) c.947C= c.2079C= (p.Phe693=) c.3207C= (p.Phe1069=) c.122C= c.3387C= (p.Phe1129=) c.3054C= (p.Phe1018=) | |
7 | g.117611738C>G | CA368992429 | CFTR | c.3297C>G (p.Phe1099Leu) c.*3011C>G (n.*3011C>G) c.3114C>G (p.Phe1038Leu) c.*1597C>G (n.*1597C>G) c.*3121C>G (n.*3121C>G) c.2871C>G (p.Phe957Leu) c.45C>G (p.Phe15Leu) c.888C>G (p.Phe296Leu) c.947C>G c.2079C>G (p.Phe693Leu) c.3207C>G (p.Phe1069Leu) c.122C>G c.3387C>G (p.Phe1129Leu) c.3054C>G (p.Phe1018Leu) | |
7 | g.117611738C>T | CA164966707 | CFTR | c.3297C>T (p.Phe1099=) c.*3011C>T (n.*3011C>T) c.3114C>T (p.Phe1038=) c.*1597C>T (n.*1597C>T) c.*3121C>T (n.*3121C>T) c.2871C>T (p.Phe957=) c.45C>T (p.Phe15=) c.888C>T (p.Phe296=) c.947C>T c.2079C>T (p.Phe693=) c.3207C>T (p.Phe1069=) c.122C>T c.3387C>T (p.Phe1129=) c.3054C>T (p.Phe1018=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
7 | g.117611739C>A | CA368992433 | CFTR | c.3298C>A (p.Gln1100Lys) c.*3012C>A (n.*3012C>A) c.3115C>A (p.Gln1039Lys) c.*1598C>A (n.*1598C>A) c.*3122C>A (n.*3122C>A) c.2872C>A (p.Gln958Lys) c.46C>A (p.Gln16Lys) c.889C>A (p.Gln297Lys) c.948C>A c.2080C>A (p.Gln694Lys) c.3208C>A (p.Gln1070Lys) c.123C>A c.3388C>A (p.Gln1130Lys) c.3055C>A (p.Gln1019Lys) | |
7 | g.117611739C>G | CA368992430 | CFTR | c.3298C>G (p.Gln1100Glu) c.*3012C>G (n.*3012C>G) c.3115C>G (p.Gln1039Glu) c.*1598C>G (n.*1598C>G) c.*3122C>G (n.*3122C>G) c.2872C>G (p.Gln958Glu) c.46C>G (p.Gln16Glu) c.889C>G (p.Gln297Glu) c.948C>G c.2080C>G (p.Gln694Glu) c.3208C>G (p.Gln1070Glu) c.123C>G c.3388C>G (p.Gln1130Glu) c.3055C>G (p.Gln1019Glu) | |
7 | g.117611739C>T | CA368992431 | CFTR | c.3298C>T (p.Gln1100Ter) c.*3012C>T (n.*3012C>T) c.3115C>T (p.Gln1039Ter) c.*1598C>T (n.*1598C>T) c.*3122C>T (n.*3122C>T) c.2872C>T (p.Gln958Ter) c.46C>T (p.Gln16Ter) c.889C>T (p.Gln297Ter) c.948C>T c.2080C>T (p.Gln694Ter) c.3208C>T (p.Gln1070Ter) c.123C>T c.3388C>T (p.Gln1130Ter) c.3055C>T (p.Gln1019Ter) | |
7 | g.117611740A= | CA1737387449 | CFTR | c.3299A= (p.Gln1100=) c.*3013A= (n.*3013A=) c.3116A= (p.Gln1039=) c.*1599A= (n.*1599A=) c.*3123A= (n.*3123A=) c.2873A= (p.Gln958=) c.47A= (p.Gln16=) c.890A= (p.Gln297=) c.949A= c.2081A= (p.Gln694=) c.3209A= (p.Gln1070=) c.124A= c.3389A= (p.Gln1130=) c.3056A= (p.Gln1019=) | |
7 | g.117611740A>C | CA327135 | CFTR | c.3299A>C (p.Gln1100Pro) c.*3013A>C (n.*3013A>C) c.3116A>C (p.Gln1039Pro) c.*1599A>C (n.*1599A>C) c.*3123A>C (n.*3123A>C) c.2873A>C (p.Gln958Pro) c.47A>C (p.Gln16Pro) c.890A>C (p.Gln297Pro) c.949A>C c.2081A>C (p.Gln694Pro) c.3209A>C (p.Gln1070Pro) c.124A>C c.3389A>C (p.Gln1130Pro) c.3056A>C (p.Gln1019Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117611740A>G | CA368992435 | CFTR | c.3299A>G (p.Gln1100Arg) c.*3013A>G (n.*3013A>G) c.3116A>G (p.Gln1039Arg) c.*1599A>G (n.*1599A>G) c.*3123A>G (n.*3123A>G) c.2873A>G (p.Gln958Arg) c.47A>G (p.Gln16Arg) c.890A>G (p.Gln297Arg) c.949A>G c.2081A>G (p.Gln694Arg) c.3209A>G (p.Gln1070Arg) c.124A>G c.3389A>G (p.Gln1130Arg) c.3056A>G (p.Gln1019Arg) | gnomAD v4 |
7 | g.117611740A>T | CA368992436 | CFTR | c.3299A>T (p.Gln1100Leu) c.*3013A>T (n.*3013A>T) c.3116A>T (p.Gln1039Leu) c.*1599A>T (n.*1599A>T) c.*3123A>T (n.*3123A>T) c.2873A>T (p.Gln958Leu) c.47A>T (p.Gln16Leu) c.890A>T (p.Gln297Leu) c.949A>T c.2081A>T (p.Gln694Leu) c.3209A>T (p.Gln1070Leu) c.124A>T c.3389A>T (p.Gln1130Leu) c.3056A>T (p.Gln1019Leu) | |
7 | g.117611742dup | CA2840245475 | CFTR | c.3301dup (p.Met1101AsnfsTer?) c.*3015dup (n.*3015dup) c.3118dup (p.Met1040AsnfsTer?) c.*1601dup (n.*1601dup) c.*3125dup (n.*3125dup) c.2875dup (p.Met959AsnfsTer?) c.49dup (p.Met17AsnfsTer?) c.892dup (p.Met298AsnfsTer?) c.951dup c.2083dup (p.Met695AsnfsTer?) c.3211dup (p.Met1071AsnfsTer?) c.126dup c.3391dup (p.Met1131AsnfsTer?) c.3058dup (p.Met1020AsnfsTer?) | |
7 | g.117611742del | CA2573141589 | CFTR | c.3301del (p.Met1101Ter) c.*3015del (n.*3015del) c.3118del (p.Met1040Ter) c.*1601del (n.*1601del) c.*3125del (n.*3125del) c.2875del (p.Met959Ter) c.49del (p.Met17Ter) c.892del (p.Met298Ter) c.951del c.2083del (p.Met695Ter) c.3211del (p.Met1071Ter) c.126del c.3391del (p.Met1131Ter) c.3058del (p.Met1020Ter) | ClinVar dbSNP gnomAD v4 |
7 | g.117611741A>C | CA368992438 | CFTR | c.3300A>C (p.Gln1100His) c.*3014A>C (n.*3014A>C) c.3117A>C (p.Gln1039His) c.*1600A>C (n.*1600A>C) c.*3124A>C (n.*3124A>C) c.2874A>C (p.Gln958His) c.48A>C (p.Gln16His) c.891A>C (p.Gln297His) c.950A>C c.2082A>C (p.Gln694His) c.3210A>C (p.Gln1070His) c.125A>C c.3390A>C (p.Gln1130His) c.3057A>C (p.Gln1019His) | |
7 | g.117611741A>G | CA457230071 | CFTR | c.3300A>G (p.Gln1100=) c.*3014A>G (n.*3014A>G) c.3117A>G (p.Gln1039=) c.*1600A>G (n.*1600A>G) c.*3124A>G (n.*3124A>G) c.2874A>G (p.Gln958=) c.48A>G (p.Gln16=) c.891A>G (p.Gln297=) c.950A>G c.2082A>G (p.Gln694=) c.3210A>G (p.Gln1070=) c.125A>G c.3390A>G (p.Gln1130=) c.3057A>G (p.Gln1019=) | |
7 | g.117611741A>T | CA368992440 | CFTR | c.3300A>T (p.Gln1100His) c.*3014A>T (n.*3014A>T) c.3117A>T (p.Gln1039His) c.*1600A>T (n.*1600A>T) c.*3124A>T (n.*3124A>T) c.2874A>T (p.Gln958His) c.48A>T (p.Gln16His) c.891A>T (p.Gln297His) c.950A>T c.2082A>T (p.Gln694His) c.3210A>T (p.Gln1070His) c.125A>T c.3390A>T (p.Gln1130His) c.3057A>T (p.Gln1019His) | |
7 | g.117611742A>C | CA368992442 | CFTR | c.3301A>C (p.Met1101Leu) c.*3015A>C (n.*3015A>C) c.3118A>C (p.Met1040Leu) c.*1601A>C (n.*1601A>C) c.*3125A>C (n.*3125A>C) c.2875A>C (p.Met959Leu) c.49A>C (p.Met17Leu) c.892A>C (p.Met298Leu) c.951A>C c.2083A>C (p.Met695Leu) c.3211A>C (p.Met1071Leu) c.126A>C c.3391A>C (p.Met1131Leu) c.3058A>C (p.Met1020Leu) | |
7 | g.117611742A>G | CA368992444 | CFTR | c.3301A>G (p.Met1101Val) c.*3015A>G (n.*3015A>G) c.3118A>G (p.Met1040Val) c.*1601A>G (n.*1601A>G) c.*3125A>G (n.*3125A>G) c.2875A>G (p.Met959Val) c.49A>G (p.Met17Val) c.892A>G (p.Met298Val) c.951A>G c.2083A>G (p.Met695Val) c.3211A>G (p.Met1071Val) c.126A>G c.3391A>G (p.Met1131Val) c.3058A>G (p.Met1020Val) | |
7 | g.117611742A>T | CA368992446 | CFTR | c.3301A>T (p.Met1101Leu) c.*3015A>T (n.*3015A>T) c.3118A>T (p.Met1040Leu) c.*1601A>T (n.*1601A>T) c.*3125A>T (n.*3125A>T) c.2875A>T (p.Met959Leu) c.49A>T (p.Met17Leu) c.892A>T (p.Met298Leu) c.951A>T c.2083A>T (p.Met695Leu) c.3211A>T (p.Met1071Leu) c.126A>T c.3391A>T (p.Met1131Leu) c.3058A>T (p.Met1020Leu) | |
7 | g.117611743T>A | CA221025 | CFTR | c.3302T>A (p.Met1101Lys) c.*3016T>A (n.*3016T>A) c.3119T>A (p.Met1040Lys) c.*1602T>A (n.*1602T>A) c.*3126T>A (n.*3126T>A) c.2876T>A (p.Met959Lys) c.50T>A (p.Met17Lys) c.893T>A (p.Met298Lys) c.952T>A c.2084T>A (p.Met695Lys) c.3212T>A (p.Met1071Lys) c.127T>A c.3392T>A (p.Met1131Lys) c.3059T>A (p.Met1020Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611743T>C | CA368992448 | CFTR | c.3302T>C (p.Met1101Thr) c.*3016T>C (n.*3016T>C) c.3119T>C (p.Met1040Thr) c.*1602T>C (n.*1602T>C) c.*3126T>C (n.*3126T>C) c.2876T>C (p.Met959Thr) c.50T>C (p.Met17Thr) c.893T>C (p.Met298Thr) c.952T>C c.2084T>C (p.Met695Thr) c.3212T>C (p.Met1071Thr) c.127T>C c.3392T>C (p.Met1131Thr) c.3059T>C (p.Met1020Thr) | |
7 | g.117611743T>G | CA327137 | CFTR | c.3302T>G (p.Met1101Arg) c.*3016T>G (n.*3016T>G) c.3119T>G (p.Met1040Arg) c.*1602T>G (n.*1602T>G) c.*3126T>G (n.*3126T>G) c.2876T>G (p.Met959Arg) c.50T>G (p.Met17Arg) c.893T>G (p.Met298Arg) c.952T>G c.2084T>G (p.Met695Arg) c.3212T>G (p.Met1071Arg) c.127T>G c.3392T>G (p.Met1131Arg) c.3059T>G (p.Met1020Arg) | ClinVar dbSNP |
7 | g.117611743T= | CA1737387457 | CFTR | c.3302T= (p.Met1101=) c.*3016T= (n.*3016T=) c.3119T= (p.Met1040=) c.*1602T= (n.*1602T=) c.*3126T= (n.*3126T=) c.2876T= (p.Met959=) c.50T= (p.Met17=) c.893T= (p.Met298=) c.952T= c.2084T= (p.Met695=) c.3212T= (p.Met1071=) c.127T= c.3392T= (p.Met1131=) c.3059T= (p.Met1020=) | |
7 | g.117611744G>A | CA4451421 | CFTR | c.3303G>A (p.Met1101Ile) c.*3017G>A (n.*3017G>A) c.3120G>A (p.Met1040Ile) c.*1603G>A (n.*1603G>A) c.*3127G>A (n.*3127G>A) c.2877G>A (p.Met959Ile) c.51G>A (p.Met17Ile) c.894G>A (p.Met298Ile) c.953G>A c.2085G>A (p.Met695Ile) c.3213G>A (p.Met1071Ile) c.128G>A c.3393G>A (p.Met1131Ile) c.3060G>A (p.Met1020Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117611744G>C | CA368992454 | CFTR | c.3303G>C (p.Met1101Ile) c.*3017G>C (n.*3017G>C) c.3120G>C (p.Met1040Ile) c.*1603G>C (n.*1603G>C) c.*3127G>C (n.*3127G>C) c.2877G>C (p.Met959Ile) c.51G>C (p.Met17Ile) c.894G>C (p.Met298Ile) c.953G>C c.2085G>C (p.Met695Ile) c.3213G>C (p.Met1071Ile) c.128G>C c.3393G>C (p.Met1131Ile) c.3060G>C (p.Met1020Ile) | |
7 | g.117611744G= | CA1737387466 | CFTR | c.3303G= (p.Met1101=) c.*3017G= (n.*3017G=) c.3120G= (p.Met1040=) c.*1603G= (n.*1603G=) c.*3127G= (n.*3127G=) c.2877G= (p.Met959=) c.51G= (p.Met17=) c.894G= (p.Met298=) c.953G= c.2085G= (p.Met695=) c.3213G= (p.Met1071=) c.128G= c.3393G= (p.Met1131=) c.3060G= (p.Met1020=) | |
7 | g.117611744G>T | CA368992452 | CFTR | c.3303G>T (p.Met1101Ile) c.*3017G>T (n.*3017G>T) c.3120G>T (p.Met1040Ile) c.*1603G>T (n.*1603G>T) c.*3127G>T (n.*3127G>T) c.2877G>T (p.Met959Ile) c.51G>T (p.Met17Ile) c.894G>T (p.Met298Ile) c.953G>T c.2085G>T (p.Met695Ile) c.3213G>T (p.Met1071Ile) c.128G>T c.3393G>T (p.Met1131Ile) c.3060G>T (p.Met1020Ile) | |
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=) | |
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) | |
7 | g.117611760T>A | CA368992522 | CFTR | c.3319T>A (p.Phe1107Ile) c.*3033T>A (n.*3033T>A) c.3136T>A (p.Phe1046Ile) c.*1619T>A (n.*1619T>A) c.*3143T>A (n.*3143T>A) c.2893T>A (p.Phe965Ile) c.67T>A (p.Phe23Ile) c.910T>A (p.Phe304Ile) c.969T>A c.2101T>A (p.Phe701Ile) c.3229T>A (p.Phe1077Ile) c.144T>A c.3409T>A (p.Phe1137Ile) c.3076T>A (p.Phe1026Ile) | |
7 | g.117611760T>C | CA368992523 | CFTR | c.3319T>C (p.Phe1107Leu) c.*3033T>C (n.*3033T>C) c.3136T>C (p.Phe1046Leu) c.*1619T>C (n.*1619T>C) c.*3143T>C (n.*3143T>C) c.2893T>C (p.Phe965Leu) c.67T>C (p.Phe23Leu) c.910T>C (p.Phe304Leu) c.969T>C c.2101T>C (p.Phe701Leu) c.3229T>C (p.Phe1077Leu) c.144T>C c.3409T>C (p.Phe1137Leu) c.3076T>C (p.Phe1026Leu) | ClinVar dbSNP |
7 | g.117611760T>G | CA368992525 | CFTR | c.3319T>G (p.Phe1107Val) c.*3033T>G (n.*3033T>G) c.3136T>G (p.Phe1046Val) c.*1619T>G (n.*1619T>G) c.*3143T>G (n.*3143T>G) c.2893T>G (p.Phe965Val) c.67T>G (p.Phe23Val) c.910T>G (p.Phe304Val) c.969T>G c.2101T>G (p.Phe701Val) c.3229T>G (p.Phe1077Val) c.144T>G c.3409T>G (p.Phe1137Val) c.3076T>G (p.Phe1026Val) | |
7 | g.117611760T= | CA1737387569 | CFTR | c.3319T= (p.Phe1107=) c.*3033T= (n.*3033T=) c.3136T= (p.Phe1046=) c.*1619T= (n.*1619T=) c.*3143T= (n.*3143T=) c.2893T= (p.Phe965=) c.67T= (p.Phe23=) c.910T= (p.Phe304=) c.969T= c.2101T= (p.Phe701=) c.3229T= (p.Phe1077=) c.144T= c.3409T= (p.Phe1137=) c.3076T= (p.Phe1026=) | |
7 | g.117611761T>A | CA368992527 | CFTR | c.3320T>A (p.Phe1107Tyr) c.*3034T>A (n.*3034T>A) c.3137T>A (p.Phe1046Tyr) c.*1620T>A (n.*1620T>A) c.*3144T>A (n.*3144T>A) c.2894T>A (p.Phe965Tyr) c.68T>A (p.Phe23Tyr) c.911T>A (p.Phe304Tyr) c.970T>A c.2102T>A (p.Phe701Tyr) c.3230T>A (p.Phe1077Tyr) c.145T>A c.3410T>A (p.Phe1137Tyr) c.3077T>A (p.Phe1026Tyr) | |
7 | g.117611761T>C | CA368992529 | CFTR | c.3320T>C (p.Phe1107Ser) c.*3034T>C (n.*3034T>C) c.3137T>C (p.Phe1046Ser) c.*1620T>C (n.*1620T>C) c.*3144T>C (n.*3144T>C) c.2894T>C (p.Phe965Ser) c.68T>C (p.Phe23Ser) c.911T>C (p.Phe304Ser) c.970T>C c.2102T>C (p.Phe701Ser) c.3230T>C (p.Phe1077Ser) c.145T>C c.3410T>C (p.Phe1137Ser) c.3077T>C (p.Phe1026Ser) | |
7 | g.117611761T>G | CA368992531 | CFTR | c.3320T>G (p.Phe1107Cys) c.*3034T>G (n.*3034T>G) c.3137T>G (p.Phe1046Cys) c.*1620T>G (n.*1620T>G) c.*3144T>G (n.*3144T>G) c.2894T>G (p.Phe965Cys) c.68T>G (p.Phe23Cys) c.911T>G (p.Phe304Cys) c.970T>G c.2102T>G (p.Phe701Cys) c.3230T>G (p.Phe1077Cys) c.145T>G c.3410T>G (p.Phe1137Cys) c.3077T>G (p.Phe1026Cys) | |
7 | g.117611762T>A | CA368992532 | CFTR | c.3321T>A (p.Phe1107Leu) c.*3035T>A (n.*3035T>A) c.3138T>A (p.Phe1046Leu) c.*1621T>A (n.*1621T>A) c.*3145T>A (n.*3145T>A) c.2895T>A (p.Phe965Leu) c.69T>A (p.Phe23Leu) c.912T>A (p.Phe304Leu) c.971T>A c.2103T>A (p.Phe701Leu) c.3231T>A (p.Phe1077Leu) c.146T>A c.3411T>A (p.Phe1137Leu) c.3078T>A (p.Phe1026Leu) | |
7 | g.117611762T>C | CA457230080 | CFTR | c.3321T>C (p.Phe1107=) c.*3035T>C (n.*3035T>C) c.3138T>C (p.Phe1046=) c.*1621T>C (n.*1621T>C) c.*3145T>C (n.*3145T>C) c.2895T>C (p.Phe965=) c.69T>C (p.Phe23=) c.912T>C (p.Phe304=) c.971T>C c.2103T>C (p.Phe701=) c.3231T>C (p.Phe1077=) c.146T>C c.3411T>C (p.Phe1137=) c.3078T>C (p.Phe1026=) | |
7 | g.117611762T>G | CA368992534 | CFTR | c.3321T>G (p.Phe1107Leu) c.*3035T>G (n.*3035T>G) c.3138T>G (p.Phe1046Leu) c.*1621T>G (n.*1621T>G) c.*3145T>G (n.*3145T>G) c.2895T>G (p.Phe965Leu) c.69T>G (p.Phe23Leu) c.912T>G (p.Phe304Leu) c.971T>G c.2103T>G (p.Phe701Leu) c.3231T>G (p.Phe1077Leu) c.146T>G c.3411T>G (p.Phe1137Leu) c.3078T>G (p.Phe1026Leu) | |
7 | g.117611763_117611764del | CA2580076387 | CFTR | c.3322_3323del (p.Val1108HisfsTer?) c.*3036_*3037del (n.*3036_*3037del) c.3139_3140del (p.Val1047HisfsTer?) c.*1622_*1623del (n.*1622_*1623del) c.*3146_*3147del (n.*3146_*3147del) c.2896_2897del (p.Val966HisfsTer?) c.70_71del (p.Val24HisfsTer?) c.913_914del (p.Val305HisfsTer?) c.972_973del c.2104_2105del (p.Val702HisfsTer?) c.3232_3233del (p.Val1078HisfsTer?) c.147_148del c.3412_3413del (p.Val1138HisfsTer?) c.3079_3080del (p.Val1027HisfsTer?) | ClinVar |
7 | g.117611763del | CA2573141590 | CFTR | c.3322del (p.Val1108SerfsTer13) c.*3036del (n.*3036del) c.3139del (p.Val1047SerfsTer13) c.*1622del (n.*1622del) c.*3146del (n.*3146del) c.2896del (p.Val966SerfsTer13) c.70del (p.Val24SerfsTer13) c.913del (p.Val305SerfsTer13) c.972del c.2104del (p.Val702SerfsTer13) c.3232del (p.Val1078SerfsTer13) c.147del c.3412del (p.Val1138SerfsTer13) c.3079del (p.Val1027SerfsTer13) | ClinVar dbSNP gnomAD v4 |
7 | g.117611763G>A | CA368992536 | CFTR | c.3322G>A (p.Val1108Ile) c.*3036G>A (n.*3036G>A) c.3139G>A (p.Val1047Ile) c.*1622G>A (n.*1622G>A) c.*3146G>A (n.*3146G>A) c.2896G>A (p.Val966Ile) c.70G>A (p.Val24Ile) c.913G>A (p.Val305Ile) c.972G>A c.2104G>A (p.Val702Ile) c.3232G>A (p.Val1078Ile) c.147G>A c.3412G>A (p.Val1138Ile) c.3079G>A (p.Val1027Ile) | ClinVar gnomAD v4 |
7 | g.117611763G>C | CA327147 | CFTR | c.3322G>C (p.Val1108Leu) c.*3036G>C (n.*3036G>C) c.3139G>C (p.Val1047Leu) c.*1622G>C (n.*1622G>C) c.*3146G>C (n.*3146G>C) c.2896G>C (p.Val966Leu) c.70G>C (p.Val24Leu) c.913G>C (p.Val305Leu) c.972G>C c.2104G>C (p.Val702Leu) c.3232G>C (p.Val1078Leu) c.147G>C c.3412G>C (p.Val1138Leu) c.3079G>C (p.Val1027Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611763G= | CA1737387577 | CFTR | c.3322G= (p.Val1108=) c.*3036G= (n.*3036G=) c.3139G= (p.Val1047=) c.*1622G= (n.*1622G=) c.*3146G= (n.*3146G=) c.2896G= (p.Val966=) c.70G= (p.Val24=) c.913G= (p.Val305=) c.972G= c.2104G= (p.Val702=) c.3232G= (p.Val1078=) c.147G= c.3412G= (p.Val1138=) c.3079G= (p.Val1027=) | |
7 | g.117611763G>T | CA368992538 | CFTR | c.3322G>T (p.Val1108Phe) c.*3036G>T (n.*3036G>T) c.3139G>T (p.Val1047Phe) c.*1622G>T (n.*1622G>T) c.*3146G>T (n.*3146G>T) c.2896G>T (p.Val966Phe) c.70G>T (p.Val24Phe) c.913G>T (p.Val305Phe) c.972G>T c.2104G>T (p.Val702Phe) c.3232G>T (p.Val1078Phe) c.147G>T c.3412G>T (p.Val1138Phe) c.3079G>T (p.Val1027Phe) | |
7 | g.117611764T>A | CA368992539 | CFTR | c.3323T>A (p.Val1108Asp) c.*3037T>A (n.*3037T>A) c.3140T>A (p.Val1047Asp) c.*1623T>A (n.*1623T>A) c.*3147T>A (n.*3147T>A) c.2897T>A (p.Val966Asp) c.71T>A (p.Val24Asp) c.914T>A (p.Val305Asp) c.973T>A c.2105T>A (p.Val702Asp) c.3233T>A (p.Val1078Asp) c.148T>A c.3413T>A (p.Val1138Asp) c.3080T>A (p.Val1027Asp) | |
7 | g.117611764T>C | CA368992540 | CFTR | c.3323T>C (p.Val1108Ala) c.*3037T>C (n.*3037T>C) c.3140T>C (p.Val1047Ala) c.*1623T>C (n.*1623T>C) c.*3147T>C (n.*3147T>C) c.2897T>C (p.Val966Ala) c.71T>C (p.Val24Ala) c.914T>C (p.Val305Ala) c.973T>C c.2105T>C (p.Val702Ala) c.3233T>C (p.Val1078Ala) c.148T>C c.3413T>C (p.Val1138Ala) c.3080T>C (p.Val1027Ala) | |
7 | g.117611764T>G | CA368992541 | CFTR | c.3323T>G (p.Val1108Gly) c.*3037T>G (n.*3037T>G) c.3140T>G (p.Val1047Gly) c.*1623T>G (n.*1623T>G) c.*3147T>G (n.*3147T>G) c.2897T>G (p.Val966Gly) c.71T>G (p.Val24Gly) c.914T>G (p.Val305Gly) c.973T>G c.2105T>G (p.Val702Gly) c.3233T>G (p.Val1078Gly) c.148T>G c.3413T>G (p.Val1138Gly) c.3080T>G (p.Val1027Gly) | |
7 | g.117611764_117611765del | CA913111898 | CFTR | c.3323_3324del (p.Val1108AspfsTer?) c.*3037_*3038del (n.*3037_*3038del) c.3140_3141del (p.Val1047AspfsTer?) c.*1623_*1624del (n.*1623_*1624del) c.*3147_*3148del (n.*3147_*3148del) c.2897_2898del (p.Val966AspfsTer?) c.71_72del (p.Val24AspfsTer?) c.914_915del (p.Val305AspfsTer?) c.973_974del c.2105_2106del (p.Val702AspfsTer?) c.3233_3234del (p.Val1078AspfsTer?) c.148_149del c.3413_3414del (p.Val1138AspfsTer?) c.3080_3081del (p.Val1027AspfsTer?) | |
7 | g.117611764_117611765delinsTC | CA1737387588 | CFTR | c.3323_3324delinsTC (p.Val1108=) c.*3037_*3038delinsTC (n.*3037_*3038delinsTC) c.3140_3141delinsTC (p.Val1047=) c.*1623_*1624delinsTC (n.*1623_*1624delinsTC) c.*3147_*3148delinsTC (n.*3147_*3148delinsTC) c.2897_2898delinsTC (p.Val966=) c.71_72delinsTC (p.Val24=) c.914_915delinsTC (p.Val305=) c.973_974delinsTC c.2105_2106delinsTC (p.Val702=) c.3233_3234delinsTC (p.Val1078=) c.148_149delinsTC c.3413_3414delinsTC (p.Val1138=) c.3080_3081delinsTC (p.Val1027=) | |
7 | g.117611765del | CA658822508 | CFTR | c.3324del (p.Ile1109SerfsTer12) c.*3038del (n.*3038del) c.3141del (p.Ile1048SerfsTer12) c.*1624del (n.*1624del) c.*3148del (n.*3148del) c.2898del (p.Ile967SerfsTer12) c.72del (p.Ile25SerfsTer12) c.915del (p.Ile306SerfsTer12) c.974del c.2106del (p.Ile703SerfsTer12) c.3234del (p.Ile1079SerfsTer12) c.149del c.3414del (p.Ile1139SerfsTer12) c.3081del (p.Ile1028SerfsTer12) | ClinVar dbSNP |
7 | g.117611765C>A | CA457230081 | CFTR | c.3324C>A (p.Val1108=) c.*3038C>A (n.*3038C>A) c.3141C>A (p.Val1047=) c.*1624C>A (n.*1624C>A) c.*3148C>A (n.*3148C>A) c.2898C>A (p.Val966=) c.72C>A (p.Val24=) c.915C>A (p.Val305=) c.974C>A c.2106C>A (p.Val702=) c.3234C>A (p.Val1078=) c.149C>A c.3414C>A (p.Val1138=) c.3081C>A (p.Val1027=) | ClinVar dbSNP |
7 | g.117611765C>G | CA457230082 | CFTR | c.3324C>G (p.Val1108=) c.*3038C>G (n.*3038C>G) c.3141C>G (p.Val1047=) c.*1624C>G (n.*1624C>G) c.*3148C>G (n.*3148C>G) c.2898C>G (p.Val966=) c.72C>G (p.Val24=) c.915C>G (p.Val305=) c.974C>G c.2106C>G (p.Val702=) c.3234C>G (p.Val1078=) c.149C>G c.3414C>G (p.Val1138=) c.3081C>G (p.Val1027=) | |
7 | g.117611765C>T | CA457230083 | CFTR | c.3324C>T (p.Val1108=) c.*3038C>T (n.*3038C>T) c.3141C>T (p.Val1047=) c.*1624C>T (n.*1624C>T) c.*3148C>T (n.*3148C>T) c.2898C>T (p.Val966=) c.72C>T (p.Val24=) c.915C>T (p.Val305=) c.974C>T c.2106C>T (p.Val702=) c.3234C>T (p.Val1078=) c.149C>T c.3414C>T (p.Val1138=) c.3081C>T (p.Val1027=) | ClinVar dbSNP |
7 | g.117611766A= | CA1737387607 | CFTR | c.3325A= (p.Ile1109=) c.*3039A= (n.*3039A=) c.3142A= (p.Ile1048=) c.*1625A= (n.*1625A=) c.*3149A= (n.*3149A=) c.2899A= (p.Ile967=) c.73A= (p.Ile25=) c.916A= (p.Ile306=) c.975A= c.2107A= (p.Ile703=) c.3235A= (p.Ile1079=) c.150A= c.3415A= (p.Ile1139=) c.3082A= (p.Ile1028=) | |
7 | g.117611766A>C | CA368992544 | CFTR | c.3325A>C (p.Ile1109Leu) c.*3039A>C (n.*3039A>C) c.3142A>C (p.Ile1048Leu) c.*1625A>C (n.*1625A>C) c.*3149A>C (n.*3149A>C) c.2899A>C (p.Ile967Leu) c.73A>C (p.Ile25Leu) c.916A>C (p.Ile306Leu) c.975A>C c.2107A>C (p.Ile703Leu) c.3235A>C (p.Ile1079Leu) c.150A>C c.3415A>C (p.Ile1139Leu) c.3082A>C (p.Ile1028Leu) | |
7 | g.117611766A>G | CA4451424 | CFTR | c.3325A>G (p.Ile1109Val) c.*3039A>G (n.*3039A>G) c.3142A>G (p.Ile1048Val) c.*1625A>G (n.*1625A>G) c.*3149A>G (n.*3149A>G) c.2899A>G (p.Ile967Val) c.73A>G (p.Ile25Val) c.916A>G (p.Ile306Val) c.975A>G c.2107A>G (p.Ile703Val) c.3235A>G (p.Ile1079Val) c.150A>G c.3415A>G (p.Ile1139Val) c.3082A>G (p.Ile1028Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611766A>T | CA368992546 | CFTR | c.3325A>T (p.Ile1109Phe) c.*3039A>T (n.*3039A>T) c.3142A>T (p.Ile1048Phe) c.*1625A>T (n.*1625A>T) c.*3149A>T (n.*3149A>T) c.2899A>T (p.Ile967Phe) c.73A>T (p.Ile25Phe) c.916A>T (p.Ile306Phe) c.975A>T c.2107A>T (p.Ile703Phe) c.3235A>T (p.Ile1079Phe) c.150A>T c.3415A>T (p.Ile1139Phe) c.3082A>T (p.Ile1028Phe) | |
7 | g.117611766_117611769delinsATCT | CA1737387610 | CFTR | c.3325_3328delinsATCT (p.Ile1109=) c.*3039_*3042delinsATCT (n.*3039_*3042delinsATCT) c.3142_3145delinsATCT (p.Ile1048=) c.*1625_*1628delinsATCT (n.*1625_*1628delinsATCT) c.*3149_*3152delinsATCT (n.*3149_*3152delinsATCT) c.2899_2902delinsATCT (p.Ile967=) c.73_76delinsATCT (p.Ile25=) c.916_919delinsATCT (p.Ile306=) c.975_978delinsATCT c.2107_2110delinsATCT (p.Ile703=) c.3235_3238delinsATCT (p.Ile1079=) c.150_153delinsATCT c.3415_3418delinsATCT (p.Ile1139=) c.3082_3085delinsATCT (p.Ile1028=) | |
7 | g.117611767T>A | CA368992548 | CFTR | c.3326T>A (p.Ile1109Asn) c.*3040T>A (n.*3040T>A) c.3143T>A (p.Ile1048Asn) c.*1626T>A (n.*1626T>A) c.*3150T>A (n.*3150T>A) c.2900T>A (p.Ile967Asn) c.74T>A (p.Ile25Asn) c.917T>A (p.Ile306Asn) c.976T>A c.2108T>A (p.Ile703Asn) c.3236T>A (p.Ile1079Asn) c.151T>A c.3416T>A (p.Ile1139Asn) c.3083T>A (p.Ile1028Asn) | |
7 | g.117611767T>C | CA368992550 | CFTR | c.3326T>C (p.Ile1109Thr) c.*3040T>C (n.*3040T>C) c.3143T>C (p.Ile1048Thr) c.*1626T>C (n.*1626T>C) c.*3150T>C (n.*3150T>C) c.2900T>C (p.Ile967Thr) c.74T>C (p.Ile25Thr) c.917T>C (p.Ile306Thr) c.976T>C c.2108T>C (p.Ile703Thr) c.3236T>C (p.Ile1079Thr) c.151T>C c.3416T>C (p.Ile1139Thr) c.3083T>C (p.Ile1028Thr) | ClinVar gnomAD v4 |
7 | g.117611767T>G | CA368992551 | CFTR | c.3326T>G (p.Ile1109Ser) c.*3040T>G (n.*3040T>G) c.3143T>G (p.Ile1048Ser) c.*1626T>G (n.*1626T>G) c.*3150T>G (n.*3150T>G) c.2900T>G (p.Ile967Ser) c.74T>G (p.Ile25Ser) c.917T>G (p.Ile306Ser) c.976T>G c.2108T>G (p.Ile703Ser) c.3236T>G (p.Ile1079Ser) c.151T>G c.3416T>G (p.Ile1139Ser) c.3083T>G (p.Ile1028Ser) | |
7 | g.117611772_117611774del | CA913189835 | CFTR | c.3331_3333del (p.Phe1111del) c.*3045_*3047del (n.*3045_*3047del) c.3148_3150del (p.Phe1050del) c.*1631_*1633del (n.*1631_*1633del) c.*3155_*3157del (n.*3155_*3157del) c.2905_2907del (p.Phe969del) c.79_81del (p.Phe27del) c.922_924del (p.Phe308del) c.981_983del c.2113_2115del (p.Phe705del) c.3241_3243del (p.Phe1081del) c.156_158del c.3421_3423del (p.Phe1141del) c.3088_3090del (p.Phe1030del) | ClinVar dbSNP |
7 | g.117611768C>A | CA457230084 | CFTR | c.3327C>A (p.Ile1109=) c.*3041C>A (n.*3041C>A) c.3144C>A (p.Ile1048=) c.*1627C>A (n.*1627C>A) c.*3151C>A (n.*3151C>A) c.2901C>A (p.Ile967=) c.75C>A (p.Ile25=) c.918C>A (p.Ile306=) c.977C>A c.2109C>A (p.Ile703=) c.3237C>A (p.Ile1079=) c.152C>A c.3417C>A (p.Ile1139=) c.3084C>A (p.Ile1028=) | |
7 | g.117611768C= | CA1737387620 | CFTR | c.3327C= (p.Ile1109=) c.*3041C= (n.*3041C=) c.3144C= (p.Ile1048=) c.*1627C= (n.*1627C=) c.*3151C= (n.*3151C=) c.2901C= (p.Ile967=) c.75C= (p.Ile25=) c.918C= (p.Ile306=) c.977C= c.2109C= (p.Ile703=) c.3237C= (p.Ile1079=) c.152C= c.3417C= (p.Ile1139=) c.3084C= (p.Ile1028=) | |
7 | g.117611768C>G | CA368992552 | CFTR | c.3327C>G (p.Ile1109Met) c.*3041C>G (n.*3041C>G) c.3144C>G (p.Ile1048Met) c.*1627C>G (n.*1627C>G) c.*3151C>G (n.*3151C>G) c.2901C>G (p.Ile967Met) c.75C>G (p.Ile25Met) c.918C>G (p.Ile306Met) c.977C>G c.2109C>G (p.Ile703Met) c.3237C>G (p.Ile1079Met) c.152C>G c.3417C>G (p.Ile1139Met) c.3084C>G (p.Ile1028Met) | |
7 | g.117611768C>T | CA4451425 | CFTR | c.3327C>T (p.Ile1109=) c.*3041C>T (n.*3041C>T) c.3144C>T (p.Ile1048=) c.*1627C>T (n.*1627C>T) c.*3151C>T (n.*3151C>T) c.2901C>T (p.Ile967=) c.75C>T (p.Ile25=) c.918C>T (p.Ile306=) c.977C>T c.2109C>T (p.Ile703=) c.3237C>T (p.Ile1079=) c.152C>T c.3417C>T (p.Ile1139=) c.3084C>T (p.Ile1028=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611769T>A | CA368992553 | CFTR | c.3328T>A (p.Phe1110Ile) c.*3042T>A (n.*3042T>A) c.3145T>A (p.Phe1049Ile) c.*1628T>A (n.*1628T>A) c.*3152T>A (n.*3152T>A) c.2902T>A (p.Phe968Ile) c.76T>A (p.Phe26Ile) c.919T>A (p.Phe307Ile) c.978T>A c.2110T>A (p.Phe704Ile) c.3238T>A (p.Phe1080Ile) c.153T>A c.3418T>A (p.Phe1140Ile) c.3085T>A (p.Phe1029Ile) | |
7 | g.117611769T>C | CA368992555 | CFTR | c.3328T>C (p.Phe1110Leu) c.*3042T>C (n.*3042T>C) c.3145T>C (p.Phe1049Leu) c.*1628T>C (n.*1628T>C) c.*3152T>C (n.*3152T>C) c.2902T>C (p.Phe968Leu) c.76T>C (p.Phe26Leu) c.919T>C (p.Phe307Leu) c.978T>C c.2110T>C (p.Phe704Leu) c.3238T>C (p.Phe1080Leu) c.153T>C c.3418T>C (p.Phe1140Leu) c.3085T>C (p.Phe1029Leu) | |
7 | g.117611769T>G | CA368992554 | CFTR | c.3328T>G (p.Phe1110Val) c.*3042T>G (n.*3042T>G) c.3145T>G (p.Phe1049Val) c.*1628T>G (n.*1628T>G) c.*3152T>G (n.*3152T>G) c.2902T>G (p.Phe968Val) c.76T>G (p.Phe26Val) c.919T>G (p.Phe307Val) c.978T>G c.2110T>G (p.Phe704Val) c.3238T>G (p.Phe1080Val) c.153T>G c.3418T>G (p.Phe1140Val) c.3085T>G (p.Phe1029Val) | |
7 | g.117611770T>A | CA368992556 | CFTR | c.3329T>A (p.Phe1110Tyr) c.*3043T>A (n.*3043T>A) c.3146T>A (p.Phe1049Tyr) c.*1629T>A (n.*1629T>A) c.*3153T>A (n.*3153T>A) c.2903T>A (p.Phe968Tyr) c.77T>A (p.Phe26Tyr) c.920T>A (p.Phe307Tyr) c.979T>A c.2111T>A (p.Phe704Tyr) c.3239T>A (p.Phe1080Tyr) c.154T>A c.3419T>A (p.Phe1140Tyr) c.3086T>A (p.Phe1029Tyr) | |
7 | g.117611770T>C | CA368992558 | CFTR | c.3329T>C (p.Phe1110Ser) c.*3043T>C (n.*3043T>C) c.3146T>C (p.Phe1049Ser) c.*1629T>C (n.*1629T>C) c.*3153T>C (n.*3153T>C) c.2903T>C (p.Phe968Ser) c.77T>C (p.Phe26Ser) c.920T>C (p.Phe307Ser) c.979T>C c.2111T>C (p.Phe704Ser) c.3239T>C (p.Phe1080Ser) c.154T>C c.3419T>C (p.Phe1140Ser) c.3086T>C (p.Phe1029Ser) | |
7 | g.117611770T>G | CA368992557 | CFTR | c.3329T>G (p.Phe1110Cys) c.*3043T>G (n.*3043T>G) c.3146T>G (p.Phe1049Cys) c.*1629T>G (n.*1629T>G) c.*3153T>G (n.*3153T>G) c.2903T>G (p.Phe968Cys) c.77T>G (p.Phe26Cys) c.920T>G (p.Phe307Cys) c.979T>G c.2111T>G (p.Phe704Cys) c.3239T>G (p.Phe1080Cys) c.154T>G c.3419T>G (p.Phe1140Cys) c.3086T>G (p.Phe1029Cys) | ClinVar dbSNP gnomAD v4 |
7 | g.117611770T= | CA1737387624 | CFTR | c.3329T= (p.Phe1110=) c.*3043T= (n.*3043T=) c.3146T= (p.Phe1049=) c.*1629T= (n.*1629T=) c.*3153T= (n.*3153T=) c.2903T= (p.Phe968=) c.77T= (p.Phe26=) c.920T= (p.Phe307=) c.979T= c.2111T= (p.Phe704=) c.3239T= (p.Phe1080=) c.154T= c.3419T= (p.Phe1140=) c.3086T= (p.Phe1029=) | |
7 | g.117611771del | CA2695199628 | CFTR | c.3330del (p.Phe1111SerfsTer10) c.*3044del (n.*3044del) c.3147del (p.Phe1050SerfsTer10) c.*1630del (n.*1630del) c.*3154del (n.*3154del) c.2904del (p.Phe969SerfsTer10) c.78del (p.Phe27SerfsTer10) c.921del (p.Phe308SerfsTer10) c.980del c.2112del (p.Phe705SerfsTer10) c.3240del (p.Phe1081SerfsTer10) c.155del c.3420del (p.Phe1141SerfsTer10) c.3087del (p.Phe1030SerfsTer10) | ClinVar |
7 | g.117611771C>A | CA368992559 | CFTR | c.3330C>A (p.Phe1110Leu) c.*3044C>A (n.*3044C>A) c.3147C>A (p.Phe1049Leu) c.*1630C>A (n.*1630C>A) c.*3154C>A (n.*3154C>A) c.2904C>A (p.Phe968Leu) c.78C>A (p.Phe26Leu) c.921C>A (p.Phe307Leu) c.980C>A c.2112C>A (p.Phe704Leu) c.3240C>A (p.Phe1080Leu) c.155C>A c.3420C>A (p.Phe1140Leu) c.3087C>A (p.Phe1029Leu) | |
7 | g.117611771C= | CA1737387634 | CFTR | c.3330C= (p.Phe1110=) c.*3044C= (n.*3044C=) c.3147C= (p.Phe1049=) c.*1630C= (n.*1630C=) c.*3154C= (n.*3154C=) c.2904C= (p.Phe968=) c.78C= (p.Phe26=) c.921C= (p.Phe307=) c.980C= c.2112C= (p.Phe704=) c.3240C= (p.Phe1080=) c.155C= c.3420C= (p.Phe1140=) c.3087C= (p.Phe1029=) | |
7 | g.117611771C>G | CA368992560 | CFTR | c.3330C>G (p.Phe1110Leu) c.*3044C>G (n.*3044C>G) c.3147C>G (p.Phe1049Leu) c.*1630C>G (n.*1630C>G) c.*3154C>G (n.*3154C>G) c.2904C>G (p.Phe968Leu) c.78C>G (p.Phe26Leu) c.921C>G (p.Phe307Leu) c.980C>G c.2112C>G (p.Phe704Leu) c.3240C>G (p.Phe1080Leu) c.155C>G c.3420C>G (p.Phe1140Leu) c.3087C>G (p.Phe1029Leu) | |
7 | g.117611771C>T | CA457230086 | CFTR | c.3330C>T (p.Phe1110=) c.*3044C>T (n.*3044C>T) c.3147C>T (p.Phe1049=) c.*1630C>T (n.*1630C>T) c.*3154C>T (n.*3154C>T) c.2904C>T (p.Phe968=) c.78C>T (p.Phe26=) c.921C>T (p.Phe307=) c.980C>T c.2112C>T (p.Phe704=) c.3240C>T (p.Phe1080=) c.155C>T c.3420C>T (p.Phe1140=) c.3087C>T (p.Phe1029=) | ClinVar dbSNP gnomAD v4 |
7 | g.117611772T>A | CA368992561 | CFTR | c.3331T>A (p.Phe1111Ile) c.*3045T>A (n.*3045T>A) c.3148T>A (p.Phe1050Ile) c.*1631T>A (n.*1631T>A) c.*3155T>A (n.*3155T>A) c.2905T>A (p.Phe969Ile) c.79T>A (p.Phe27Ile) c.922T>A (p.Phe308Ile) c.981T>A c.2113T>A (p.Phe705Ile) c.3241T>A (p.Phe1081Ile) c.156T>A c.3421T>A (p.Phe1141Ile) c.3088T>A (p.Phe1030Ile) | |
7 | g.117611772T>C | CA4451426 | CFTR | c.3331T>C (p.Phe1111Leu) c.*3045T>C (n.*3045T>C) c.3148T>C (p.Phe1050Leu) c.*1631T>C (n.*1631T>C) c.*3155T>C (n.*3155T>C) c.2905T>C (p.Phe969Leu) c.79T>C (p.Phe27Leu) c.922T>C (p.Phe308Leu) c.981T>C c.2113T>C (p.Phe705Leu) c.3241T>C (p.Phe1081Leu) c.156T>C c.3421T>C (p.Phe1141Leu) c.3088T>C (p.Phe1030Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117611772T>G | CA368992562 | CFTR | c.3331T>G (p.Phe1111Val) c.*3045T>G (n.*3045T>G) c.3148T>G (p.Phe1050Val) c.*1631T>G (n.*1631T>G) c.*3155T>G (n.*3155T>G) c.2905T>G (p.Phe969Val) c.79T>G (p.Phe27Val) c.922T>G (p.Phe308Val) c.981T>G c.2113T>G (p.Phe705Val) c.3241T>G (p.Phe1081Val) c.156T>G c.3421T>G (p.Phe1141Val) c.3088T>G (p.Phe1030Val) | |
7 | g.117611772T= | CA1737387650 | CFTR | c.3331T= (p.Phe1111=) c.*3045T= (n.*3045T=) c.3148T= (p.Phe1050=) c.*1631T= (n.*1631T=) c.*3155T= (n.*3155T=) c.2905T= (p.Phe969=) c.79T= (p.Phe27=) c.922T= (p.Phe308=) c.981T= c.2113T= (p.Phe705=) c.3241T= (p.Phe1081=) c.156T= c.3421T= (p.Phe1141=) c.3088T= (p.Phe1030=) | |
7 | g.117611773T>A | CA368992563 | CFTR | c.3332T>A (p.Phe1111Tyr) c.*3046T>A (n.*3046T>A) c.3149T>A (p.Phe1050Tyr) c.*1632T>A (n.*1632T>A) c.*3156T>A (n.*3156T>A) c.2906T>A (p.Phe969Tyr) c.80T>A (p.Phe27Tyr) c.923T>A (p.Phe308Tyr) c.982T>A c.2114T>A (p.Phe705Tyr) c.3242T>A (p.Phe1081Tyr) c.157T>A c.3422T>A (p.Phe1141Tyr) c.3089T>A (p.Phe1030Tyr) | |
7 | g.117611773T>C | CA368992564 | CFTR | c.3332T>C (p.Phe1111Ser) c.*3046T>C (n.*3046T>C) c.3149T>C (p.Phe1050Ser) c.*1632T>C (n.*1632T>C) c.*3156T>C (n.*3156T>C) c.2906T>C (p.Phe969Ser) c.80T>C (p.Phe27Ser) c.923T>C (p.Phe308Ser) c.982T>C c.2114T>C (p.Phe705Ser) c.3242T>C (p.Phe1081Ser) c.157T>C c.3422T>C (p.Phe1141Ser) c.3089T>C (p.Phe1030Ser) | |
7 | g.117611773T>G | CA368992565 | CFTR | c.3332T>G (p.Phe1111Cys) c.*3046T>G (n.*3046T>G) c.3149T>G (p.Phe1050Cys) c.*1632T>G (n.*1632T>G) c.*3156T>G (n.*3156T>G) c.2906T>G (p.Phe969Cys) c.80T>G (p.Phe27Cys) c.923T>G (p.Phe308Cys) c.982T>G c.2114T>G (p.Phe705Cys) c.3242T>G (p.Phe1081Cys) c.157T>G c.3422T>G (p.Phe1141Cys) c.3089T>G (p.Phe1030Cys) | gnomAD v4 |
7 | g.117611774C>A | CA368992566 | CFTR | c.3333C>A (p.Phe1111Leu) c.*3047C>A (n.*3047C>A) c.3150C>A (p.Phe1050Leu) c.*1633C>A (n.*1633C>A) c.*3157C>A (n.*3157C>A) c.2907C>A (p.Phe969Leu) c.81C>A (p.Phe27Leu) c.924C>A (p.Phe308Leu) c.983C>A c.2115C>A (p.Phe705Leu) c.3243C>A (p.Phe1081Leu) c.158C>A c.3423C>A (p.Phe1141Leu) c.3090C>A (p.Phe1030Leu) | |
7 | g.117611774C= | CA1737387662 | CFTR | c.3333C= (p.Phe1111=) c.*3047C= (n.*3047C=) c.3150C= (p.Phe1050=) c.*1633C= (n.*1633C=) c.*3157C= (n.*3157C=) c.2907C= (p.Phe969=) c.81C= (p.Phe27=) c.924C= (p.Phe308=) c.983C= c.2115C= (p.Phe705=) c.3243C= (p.Phe1081=) c.158C= c.3423C= (p.Phe1141=) c.3090C= (p.Phe1030=) | |
7 | g.117611774C>G | CA368992567 | CFTR | c.3333C>G (p.Phe1111Leu) c.*3047C>G (n.*3047C>G) c.3150C>G (p.Phe1050Leu) c.*1633C>G (n.*1633C>G) c.*3157C>G (n.*3157C>G) c.2907C>G (p.Phe969Leu) c.81C>G (p.Phe27Leu) c.924C>G (p.Phe308Leu) c.983C>G c.2115C>G (p.Phe705Leu) c.3243C>G (p.Phe1081Leu) c.158C>G c.3423C>G (p.Phe1141Leu) c.3090C>G (p.Phe1030Leu) | COSMIC |
7 | g.117611774C>T | CA4451427 | CFTR | c.3333C>T (p.Phe1111=) c.*3047C>T (n.*3047C>T) c.3150C>T (p.Phe1050=) c.*1633C>T (n.*1633C>T) c.*3157C>T (n.*3157C>T) c.2907C>T (p.Phe969=) c.81C>T (p.Phe27=) c.924C>T (p.Phe308=) c.983C>T c.2115C>T (p.Phe705=) c.3243C>T (p.Phe1081=) c.158C>T c.3423C>T (p.Phe1141=) c.3090C>T (p.Phe1030=) | ClinVar dbSNP ExAC |
7 | g.117611775A= | CA1737387674 | CFTR | c.3334A= (p.Ile1112=) c.*3048A= (n.*3048A=) c.3151A= (p.Ile1051=) c.*1634A= (n.*1634A=) c.*3158A= (n.*3158A=) c.2908A= (p.Ile970=) c.82A= (p.Ile28=) c.925A= (p.Ile309=) c.984A= c.2116A= (p.Ile706=) c.3244A= (p.Ile1082=) c.159A= c.3424A= (p.Ile1142=) c.3091A= (p.Ile1031=) | |
7 | g.117611775A>C | CA368992570 | CFTR | c.3334A>C (p.Ile1112Leu) c.*3048A>C (n.*3048A>C) c.3151A>C (p.Ile1051Leu) c.*1634A>C (n.*1634A>C) c.*3158A>C (n.*3158A>C) c.2908A>C (p.Ile970Leu) c.82A>C (p.Ile28Leu) c.925A>C (p.Ile309Leu) c.984A>C c.2116A>C (p.Ile706Leu) c.3244A>C (p.Ile1082Leu) c.159A>C c.3424A>C (p.Ile1142Leu) c.3091A>C (p.Ile1031Leu) | |
7 | g.117611775A>G | CA368992569 | CFTR | c.3334A>G (p.Ile1112Val) c.*3048A>G (n.*3048A>G) c.3151A>G (p.Ile1051Val) c.*1634A>G (n.*1634A>G) c.*3158A>G (n.*3158A>G) c.2908A>G (p.Ile970Val) c.82A>G (p.Ile28Val) c.925A>G (p.Ile309Val) c.984A>G c.2116A>G (p.Ile706Val) c.3244A>G (p.Ile1082Val) c.159A>G c.3424A>G (p.Ile1142Val) c.3091A>G (p.Ile1031Val) | dbSNP COSMIC |
7 | g.117611775A>T | CA368992568 | CFTR | c.3334A>T (p.Ile1112Phe) c.*3048A>T (n.*3048A>T) c.3151A>T (p.Ile1051Phe) c.*1634A>T (n.*1634A>T) c.*3158A>T (n.*3158A>T) c.2908A>T (p.Ile970Phe) c.82A>T (p.Ile28Phe) c.925A>T (p.Ile309Phe) c.984A>T c.2116A>T (p.Ile706Phe) c.3244A>T (p.Ile1082Phe) c.159A>T c.3424A>T (p.Ile1142Phe) c.3091A>T (p.Ile1031Phe) | |
7 | g.117611776T>A | CA368992571 | CFTR | c.3335T>A (p.Ile1112Asn) c.*3049T>A (n.*3049T>A) c.3152T>A (p.Ile1051Asn) c.*1635T>A (n.*1635T>A) c.*3159T>A (n.*3159T>A) c.2909T>A (p.Ile970Asn) c.83T>A (p.Ile28Asn) c.926T>A (p.Ile309Asn) c.985T>A c.2117T>A (p.Ile706Asn) c.3245T>A (p.Ile1082Asn) c.160T>A c.3425T>A (p.Ile1142Asn) c.3092T>A (p.Ile1031Asn) | |
7 | g.117611776T>C | CA368992572 | CFTR | c.3335T>C (p.Ile1112Thr) c.*3049T>C (n.*3049T>C) c.3152T>C (p.Ile1051Thr) c.*1635T>C (n.*1635T>C) c.*3159T>C (n.*3159T>C) c.2909T>C (p.Ile970Thr) c.83T>C (p.Ile28Thr) c.926T>C (p.Ile309Thr) c.985T>C c.2117T>C (p.Ile706Thr) c.3245T>C (p.Ile1082Thr) c.160T>C c.3425T>C (p.Ile1142Thr) c.3092T>C (p.Ile1031Thr) | |
7 | g.117611776T>G | CA368992573 | CFTR | c.3335T>G (p.Ile1112Ser) c.*3049T>G (n.*3049T>G) c.3152T>G (p.Ile1051Ser) c.*1635T>G (n.*1635T>G) c.*3159T>G (n.*3159T>G) c.2909T>G (p.Ile970Ser) c.83T>G (p.Ile28Ser) c.926T>G (p.Ile309Ser) c.985T>G c.2117T>G (p.Ile706Ser) c.3245T>G (p.Ile1082Ser) c.160T>G c.3425T>G (p.Ile1142Ser) c.3092T>G (p.Ile1031Ser) | ClinVar dbSNP |
7 | g.117611776T= | CA1737387681 | CFTR | c.3335T= (p.Ile1112=) c.*3049T= (n.*3049T=) c.3152T= (p.Ile1051=) c.*1635T= (n.*1635T=) c.*3159T= (n.*3159T=) c.2909T= (p.Ile970=) c.83T= (p.Ile28=) c.926T= (p.Ile309=) c.985T= c.2117T= (p.Ile706=) c.3245T= (p.Ile1082=) c.160T= c.3425T= (p.Ile1142=) c.3092T= (p.Ile1031=) | |
7 | g.117611777T>A | CA457230088 | CFTR | c.3336T>A (p.Ile1112=) c.*3050T>A (n.*3050T>A) c.3153T>A (p.Ile1051=) c.*1636T>A (n.*1636T>A) c.*3160T>A (n.*3160T>A) c.2910T>A (p.Ile970=) c.84T>A (p.Ile28=) c.927T>A (p.Ile309=) c.986T>A c.2118T>A (p.Ile706=) c.3246T>A (p.Ile1082=) c.161T>A c.3426T>A (p.Ile1142=) c.3093T>A (p.Ile1031=) | |
7 | g.117611777T>C | CA457230089 | CFTR | c.3336T>C (p.Ile1112=) c.*3050T>C (n.*3050T>C) c.3153T>C (p.Ile1051=) c.*1636T>C (n.*1636T>C) c.*3160T>C (n.*3160T>C) c.2910T>C (p.Ile970=) c.84T>C (p.Ile28=) c.927T>C (p.Ile309=) c.986T>C c.2118T>C (p.Ile706=) c.3246T>C (p.Ile1082=) c.161T>C c.3426T>C (p.Ile1142=) c.3093T>C (p.Ile1031=) | |
7 | g.117611777T>G | CA368992574 | CFTR | c.3336T>G (p.Ile1112Met) c.*3050T>G (n.*3050T>G) c.3153T>G (p.Ile1051Met) c.*1636T>G (n.*1636T>G) c.*3160T>G (n.*3160T>G) c.2910T>G (p.Ile970Met) c.84T>G (p.Ile28Met) c.927T>G (p.Ile309Met) c.986T>G c.2118T>G (p.Ile706Met) c.3246T>G (p.Ile1082Met) c.161T>G c.3426T>G (p.Ile1142Met) c.3093T>G (p.Ile1031Met) | |
7 | g.117611778G>A | CA368992575 | CFTR | c.3337G>A (p.Ala1113Thr) c.*3051G>A (n.*3051G>A) c.3154G>A (p.Ala1052Thr) c.*1637G>A (n.*1637G>A) c.*3161G>A (n.*3161G>A) c.2911G>A (p.Ala971Thr) c.85G>A (p.Ala29Thr) c.928G>A (p.Ala310Thr) c.987G>A c.2119G>A (p.Ala707Thr) c.3247G>A (p.Ala1083Thr) c.162G>A c.3427G>A (p.Ala1143Thr) c.3094G>A (p.Ala1032Thr) | |
7 | g.117611778G>C | CA368992576 | CFTR | c.3337G>C (p.Ala1113Pro) c.*3051G>C (n.*3051G>C) c.3154G>C (p.Ala1052Pro) c.*1637G>C (n.*1637G>C) c.*3161G>C (n.*3161G>C) c.2911G>C (p.Ala971Pro) c.85G>C (p.Ala29Pro) c.928G>C (p.Ala310Pro) c.987G>C c.2119G>C (p.Ala707Pro) c.3247G>C (p.Ala1083Pro) c.162G>C c.3427G>C (p.Ala1143Pro) c.3094G>C (p.Ala1032Pro) | |
7 | g.117611778G>T | CA368992577 | CFTR | c.3337G>T (p.Ala1113Ser) c.*3051G>T (n.*3051G>T) c.3154G>T (p.Ala1052Ser) c.*1637G>T (n.*1637G>T) c.*3161G>T (n.*3161G>T) c.2911G>T (p.Ala971Ser) c.85G>T (p.Ala29Ser) c.928G>T (p.Ala310Ser) c.987G>T c.2119G>T (p.Ala707Ser) c.3247G>T (p.Ala1083Ser) c.162G>T c.3427G>T (p.Ala1143Ser) c.3094G>T (p.Ala1032Ser) | gnomAD v4 |
7 | g.117611779C>A | CA368992578 | CFTR | c.3338C>A (p.Ala1113Asp) c.*3052C>A (n.*3052C>A) c.3155C>A (p.Ala1052Asp) c.*1638C>A (n.*1638C>A) c.*3162C>A (n.*3162C>A) c.2912C>A (p.Ala971Asp) c.86C>A (p.Ala29Asp) c.929C>A (p.Ala310Asp) c.988C>A c.2120C>A (p.Ala707Asp) c.3248C>A (p.Ala1083Asp) c.163C>A c.3428C>A (p.Ala1143Asp) c.3095C>A (p.Ala1032Asp) | gnomAD v4 |
7 | g.117611779C>G | CA368992579 | CFTR | c.3338C>G (p.Ala1113Gly) c.*3052C>G (n.*3052C>G) c.3155C>G (p.Ala1052Gly) c.*1638C>G (n.*1638C>G) c.*3162C>G (n.*3162C>G) c.2912C>G (p.Ala971Gly) c.86C>G (p.Ala29Gly) c.929C>G (p.Ala310Gly) c.988C>G c.2120C>G (p.Ala707Gly) c.3248C>G (p.Ala1083Gly) c.163C>G c.3428C>G (p.Ala1143Gly) c.3095C>G (p.Ala1032Gly) | |
7 | g.117611779C>T | CA368992580 | CFTR | c.3338C>T (p.Ala1113Val) c.*3052C>T (n.*3052C>T) c.3155C>T (p.Ala1052Val) c.*1638C>T (n.*1638C>T) c.*3162C>T (n.*3162C>T) c.2912C>T (p.Ala971Val) c.86C>T (p.Ala29Val) c.929C>T (p.Ala310Val) c.988C>T c.2120C>T (p.Ala707Val) c.3248C>T (p.Ala1083Val) c.163C>T c.3428C>T (p.Ala1143Val) c.3095C>T (p.Ala1032Val) | COSMIC |
7 | g.117611780T>A | CA457230092 | CFTR | c.3339T>A (p.Ala1113=) c.*3053T>A (n.*3053T>A) c.3156T>A (p.Ala1052=) c.*1639T>A (n.*1639T>A) c.*3163T>A (n.*3163T>A) c.2913T>A (p.Ala971=) c.87T>A (p.Ala29=) c.930T>A (p.Ala310=) c.989T>A c.2121T>A (p.Ala707=) c.3249T>A (p.Ala1083=) c.164T>A c.3429T>A (p.Ala1143=) c.3096T>A (p.Ala1032=) | |
7 | g.117611780T>C | CA164966813 | CFTR | c.3339T>C (p.Ala1113=) c.*3053T>C (n.*3053T>C) c.3156T>C (p.Ala1052=) c.*1639T>C (n.*1639T>C) c.*3163T>C (n.*3163T>C) c.2913T>C (p.Ala971=) c.87T>C (p.Ala29=) c.930T>C (p.Ala310=) c.989T>C c.2121T>C (p.Ala707=) c.3249T>C (p.Ala1083=) c.164T>C c.3429T>C (p.Ala1143=) c.3096T>C (p.Ala1032=) | dbSNP gnomAD v4 |
7 | g.117611780T>G | CA457230093 | CFTR | c.3339T>G (p.Ala1113=) c.*3053T>G (n.*3053T>G) c.3156T>G (p.Ala1052=) c.*1639T>G (n.*1639T>G) c.*3163T>G (n.*3163T>G) c.2913T>G (p.Ala971=) c.87T>G (p.Ala29=) c.930T>G (p.Ala310=) c.989T>G c.2121T>G (p.Ala707=) c.3249T>G (p.Ala1083=) c.164T>G c.3429T>G (p.Ala1143=) c.3096T>G (p.Ala1032=) | |
7 | g.117611780T= | CA1737387689 | CFTR | c.3339T= (p.Ala1113=) c.*3053T= (n.*3053T=) c.3156T= (p.Ala1052=) c.*1639T= (n.*1639T=) c.*3163T= (n.*3163T=) c.2913T= (p.Ala971=) c.87T= (p.Ala29=) c.930T= (p.Ala310=) c.989T= c.2121T= (p.Ala707=) c.3249T= (p.Ala1083=) c.164T= c.3429T= (p.Ala1143=) c.3096T= (p.Ala1032=) | |
7 | g.117611781G>A | CA368992582 | CFTR | c.3340G>A (p.Val1114Ile) c.*3054G>A (n.*3054G>A) c.3157G>A (p.Val1053Ile) c.*1640G>A (n.*1640G>A) c.*3164G>A (n.*3164G>A) c.2914G>A (p.Val972Ile) c.88G>A (p.Val30Ile) c.931G>A (p.Val311Ile) c.990G>A c.2122G>A (p.Val708Ile) c.3250G>A (p.Val1084Ile) c.165G>A c.3430G>A (p.Val1144Ile) c.3097G>A (p.Val1033Ile) | ClinVar gnomAD v4 |
7 | g.117611781G>C | CA164966814 | CFTR | c.3340G>C (p.Val1114Leu) c.*3054G>C (n.*3054G>C) c.3157G>C (p.Val1053Leu) c.*1640G>C (n.*1640G>C) c.*3164G>C (n.*3164G>C) c.2914G>C (p.Val972Leu) c.88G>C (p.Val30Leu) c.931G>C (p.Val311Leu) c.990G>C c.2122G>C (p.Val708Leu) c.3250G>C (p.Val1084Leu) c.165G>C c.3430G>C (p.Val1144Leu) c.3097G>C (p.Val1033Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611781G= | CA1737387697 | CFTR | c.3340G= (p.Val1114=) c.*3054G= (n.*3054G=) c.3157G= (p.Val1053=) c.*1640G= (n.*1640G=) c.*3164G= (n.*3164G=) c.2914G= (p.Val972=) c.88G= (p.Val30=) c.931G= (p.Val311=) c.990G= c.2122G= (p.Val708=) c.3250G= (p.Val1084=) c.165G= c.3430G= (p.Val1144=) c.3097G= (p.Val1033=) | |
7 | g.117611781G>T | CA368992581 | CFTR | c.3340G>T (p.Val1114Phe) c.*3054G>T (n.*3054G>T) c.3157G>T (p.Val1053Phe) c.*1640G>T (n.*1640G>T) c.*3164G>T (n.*3164G>T) c.2914G>T (p.Val972Phe) c.88G>T (p.Val30Phe) c.931G>T (p.Val311Phe) c.990G>T c.2122G>T (p.Val708Phe) c.3250G>T (p.Val1084Phe) c.165G>T c.3430G>T (p.Val1144Phe) c.3097G>T (p.Val1033Phe) | |
7 | g.117611782T>A | CA368992583 | CFTR | c.3341T>A (p.Val1114Asp) c.*3055T>A (n.*3055T>A) c.3158T>A (p.Val1053Asp) c.*1641T>A (n.*1641T>A) c.*3165T>A (n.*3165T>A) c.2915T>A (p.Val972Asp) c.89T>A (p.Val30Asp) c.932T>A (p.Val311Asp) c.991T>A c.2123T>A (p.Val708Asp) c.3251T>A (p.Val1084Asp) c.166T>A c.3431T>A (p.Val1144Asp) c.3098T>A (p.Val1033Asp) | gnomAD v4 |
7 | g.117611782T>C | CA368992584 | CFTR | c.3341T>C (p.Val1114Ala) c.*3055T>C (n.*3055T>C) c.3158T>C (p.Val1053Ala) c.*1641T>C (n.*1641T>C) c.*3165T>C (n.*3165T>C) c.2915T>C (p.Val972Ala) c.89T>C (p.Val30Ala) c.932T>C (p.Val311Ala) c.991T>C c.2123T>C (p.Val708Ala) c.3251T>C (p.Val1084Ala) c.166T>C c.3431T>C (p.Val1144Ala) c.3098T>C (p.Val1033Ala) | |
7 | g.117611782T>G | CA368992585 | CFTR | c.3341T>G (p.Val1114Gly) c.*3055T>G (n.*3055T>G) c.3158T>G (p.Val1053Gly) c.*1641T>G (n.*1641T>G) c.*3165T>G (n.*3165T>G) c.2915T>G (p.Val972Gly) c.89T>G (p.Val30Gly) c.932T>G (p.Val311Gly) c.991T>G c.2123T>G (p.Val708Gly) c.3251T>G (p.Val1084Gly) c.166T>G c.3431T>G (p.Val1144Gly) c.3098T>G (p.Val1033Gly) | |
7 | g.117611783T>A | CA457230095 | CFTR | c.3342T>A (p.Val1114=) c.*3056T>A (n.*3056T>A) c.3159T>A (p.Val1053=) c.*1642T>A (n.*1642T>A) c.*3166T>A (n.*3166T>A) c.2916T>A (p.Val972=) c.90T>A (p.Val30=) c.933T>A (p.Val311=) c.992T>A c.2124T>A (p.Val708=) c.3252T>A (p.Val1084=) c.167T>A c.3432T>A (p.Val1144=) c.3099T>A (p.Val1033=) | |
7 | g.117611783T>C | CA457230096 | CFTR | c.3342T>C (p.Val1114=) c.*3056T>C (n.*3056T>C) c.3159T>C (p.Val1053=) c.*1642T>C (n.*1642T>C) c.*3166T>C (n.*3166T>C) c.2916T>C (p.Val972=) c.90T>C (p.Val30=) c.933T>C (p.Val311=) c.992T>C c.2124T>C (p.Val708=) c.3252T>C (p.Val1084=) c.167T>C c.3432T>C (p.Val1144=) c.3099T>C (p.Val1033=) | gnomAD v4 |
7 | g.117611783T>G | CA457230094 | CFTR | c.3342T>G (p.Val1114=) c.*3056T>G (n.*3056T>G) c.3159T>G (p.Val1053=) c.*1642T>G (n.*1642T>G) c.*3166T>G (n.*3166T>G) c.2916T>G (p.Val972=) c.90T>G (p.Val30=) c.933T>G (p.Val311=) c.992T>G c.2124T>G (p.Val708=) c.3252T>G (p.Val1084=) c.167T>G c.3432T>G (p.Val1144=) c.3099T>G (p.Val1033=) | |
7 | g.117611783T= | CA1737387706 | CFTR | c.3342T= (p.Val1114=) c.*3056T= (n.*3056T=) c.3159T= (p.Val1053=) c.*1642T= (n.*1642T=) c.*3166T= (n.*3166T=) c.2916T= (p.Val972=) c.90T= (p.Val30=) c.933T= (p.Val311=) c.992T= c.2124T= (p.Val708=) c.3252T= (p.Val1084=) c.167T= c.3432T= (p.Val1144=) c.3099T= (p.Val1033=) | |
7 | g.117611784A= | CA1737387709 | CFTR | c.3343A= (p.Thr1115=) c.*3057A= (n.*3057A=) c.3160A= (p.Thr1054=) c.*1643A= (n.*1643A=) c.*3167A= (n.*3167A=) c.2917A= (p.Thr973=) c.91A= (p.Thr31=) c.934A= (p.Thr312=) c.993A= c.2125A= (p.Thr709=) c.3253A= (p.Thr1085=) c.168A= c.3433A= (p.Thr1145=) c.3100A= (p.Thr1034=) | |
7 | g.117611784A>C | CA368992586 | CFTR | c.3343A>C (p.Thr1115Pro) c.*3057A>C (n.*3057A>C) c.3160A>C (p.Thr1054Pro) c.*1643A>C (n.*1643A>C) c.*3167A>C (n.*3167A>C) c.2917A>C (p.Thr973Pro) c.91A>C (p.Thr31Pro) c.934A>C (p.Thr312Pro) c.993A>C c.2125A>C (p.Thr709Pro) c.3253A>C (p.Thr1085Pro) c.168A>C c.3433A>C (p.Thr1145Pro) c.3100A>C (p.Thr1034Pro) | |
7 | g.117611784A>G | CA368992587 | CFTR | c.3343A>G (p.Thr1115Ala) c.*3057A>G (n.*3057A>G) c.3160A>G (p.Thr1054Ala) c.*1643A>G (n.*1643A>G) c.*3167A>G (n.*3167A>G) c.2917A>G (p.Thr973Ala) c.91A>G (p.Thr31Ala) c.934A>G (p.Thr312Ala) c.993A>G c.2125A>G (p.Thr709Ala) c.3253A>G (p.Thr1085Ala) c.168A>G c.3433A>G (p.Thr1145Ala) c.3100A>G (p.Thr1034Ala) | COSMIC |
7 | g.117611784A>T | CA368992588 | CFTR | c.3343A>T (p.Thr1115Ser) c.*3057A>T (n.*3057A>T) c.3160A>T (p.Thr1054Ser) c.*1643A>T (n.*1643A>T) c.*3167A>T (n.*3167A>T) c.2917A>T (p.Thr973Ser) c.91A>T (p.Thr31Ser) c.934A>T (p.Thr312Ser) c.993A>T c.2125A>T (p.Thr709Ser) c.3253A>T (p.Thr1085Ser) c.168A>T c.3433A>T (p.Thr1145Ser) c.3100A>T (p.Thr1034Ser) | dbSNP |
7 | g.117611784dup | CA913189836 | CFTR | c.3343dup (p.Thr1115AsnfsTer?) c.*3057dup (n.*3057dup) c.3160dup (p.Thr1054AsnfsTer?) c.*1643dup (n.*1643dup) c.*3167dup (n.*3167dup) c.2917dup (p.Thr973AsnfsTer?) c.91dup (p.Thr31AsnfsTer?) c.934dup (p.Thr312AsnfsTer?) c.993dup c.2125dup (p.Thr709AsnfsTer?) c.3253dup (p.Thr1085AsnfsTer?) c.168dup c.3433dup (p.Thr1145AsnfsTer?) c.3100dup (p.Thr1034AsnfsTer?) | ClinVar dbSNP |
7 | g.117611785C>A | CA368992589 | CFTR | c.3344C>A (p.Thr1115Asn) c.*3058C>A (n.*3058C>A) c.3161C>A (p.Thr1054Asn) c.*1644C>A (n.*1644C>A) c.*3168C>A (n.*3168C>A) c.2918C>A (p.Thr973Asn) c.92C>A (p.Thr31Asn) c.935C>A (p.Thr312Asn) c.994C>A c.2126C>A (p.Thr709Asn) c.3254C>A (p.Thr1085Asn) c.169C>A c.3434C>A (p.Thr1145Asn) c.3101C>A (p.Thr1034Asn) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117611785C= | CA1737387715 | CFTR | c.3344C= (p.Thr1115=) c.*3058C= (n.*3058C=) c.3161C= (p.Thr1054=) c.*1644C= (n.*1644C=) c.*3168C= (n.*3168C=) c.2918C= (p.Thr973=) c.92C= (p.Thr31=) c.935C= (p.Thr312=) c.994C= c.2126C= (p.Thr709=) c.3254C= (p.Thr1085=) c.169C= c.3434C= (p.Thr1145=) c.3101C= (p.Thr1034=) | |
7 | g.117611785C>G | CA368992590 | CFTR | c.3344C>G (p.Thr1115Ser) c.*3058C>G (n.*3058C>G) c.3161C>G (p.Thr1054Ser) c.*1644C>G (n.*1644C>G) c.*3168C>G (n.*3168C>G) c.2918C>G (p.Thr973Ser) c.92C>G (p.Thr31Ser) c.935C>G (p.Thr312Ser) c.994C>G c.2126C>G (p.Thr709Ser) c.3254C>G (p.Thr1085Ser) c.169C>G c.3434C>G (p.Thr1145Ser) c.3101C>G (p.Thr1034Ser) | |
7 | g.117611785C>T | CA368992591 | CFTR | c.3344C>T (p.Thr1115Ile) c.*3058C>T (n.*3058C>T) c.3161C>T (p.Thr1054Ile) c.*1644C>T (n.*1644C>T) c.*3168C>T (n.*3168C>T) c.2918C>T (p.Thr973Ile) c.92C>T (p.Thr31Ile) c.935C>T (p.Thr312Ile) c.994C>T c.2126C>T (p.Thr709Ile) c.3254C>T (p.Thr1085Ile) c.169C>T c.3434C>T (p.Thr1145Ile) c.3101C>T (p.Thr1034Ile) | gnomAD v4 |
7 | g.117611786C>A | CA457230098 | CFTR | c.3345C>A (p.Thr1115=) c.*3059C>A (n.*3059C>A) c.3162C>A (p.Thr1054=) c.*1645C>A (n.*1645C>A) c.*3169C>A (n.*3169C>A) c.2919C>A (p.Thr973=) c.93C>A (p.Thr31=) c.936C>A (p.Thr312=) c.995C>A c.2127C>A (p.Thr709=) c.3255C>A (p.Thr1085=) c.170C>A c.3435C>A (p.Thr1145=) c.3102C>A (p.Thr1034=) | |
7 | g.117611786C= | CA1737387723 | CFTR | c.3345C= (p.Thr1115=) c.*3059C= (n.*3059C=) c.3162C= (p.Thr1054=) c.*1645C= (n.*1645C=) c.*3169C= (n.*3169C=) c.2919C= (p.Thr973=) c.93C= (p.Thr31=) c.936C= (p.Thr312=) c.995C= c.2127C= (p.Thr709=) c.3255C= (p.Thr1085=) c.170C= c.3435C= (p.Thr1145=) c.3102C= (p.Thr1034=) | |
7 | g.117611786C>G | CA457230099 | CFTR | c.3345C>G (p.Thr1115=) c.*3059C>G (n.*3059C>G) c.3162C>G (p.Thr1054=) c.*1645C>G (n.*1645C>G) c.*3169C>G (n.*3169C>G) c.2919C>G (p.Thr973=) c.93C>G (p.Thr31=) c.936C>G (p.Thr312=) c.995C>G c.2127C>G (p.Thr709=) c.3255C>G (p.Thr1085=) c.170C>G c.3435C>G (p.Thr1145=) c.3102C>G (p.Thr1034=) | |
7 | g.117611786C>T | CA457230100 | CFTR | c.3345C>T (p.Thr1115=) c.*3059C>T (n.*3059C>T) c.3162C>T (p.Thr1054=) c.*1645C>T (n.*1645C>T) c.*3169C>T (n.*3169C>T) c.2919C>T (p.Thr973=) c.93C>T (p.Thr31=) c.936C>T (p.Thr312=) c.995C>T c.2127C>T (p.Thr709=) c.3255C>T (p.Thr1085=) c.170C>T c.3435C>T (p.Thr1145=) c.3102C>T (p.Thr1034=) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117611787T>A | CA368992592 | CFTR | c.3346T>A (p.Phe1116Ile) c.*3060T>A (n.*3060T>A) c.3163T>A (p.Phe1055Ile) c.*1646T>A (n.*1646T>A) c.*3170T>A (n.*3170T>A) c.2920T>A (p.Phe974Ile) c.94T>A (p.Phe32Ile) c.937T>A (p.Phe313Ile) c.996T>A c.2128T>A (p.Phe710Ile) c.3256T>A (p.Phe1086Ile) c.171T>A c.3436T>A (p.Phe1146Ile) c.3103T>A (p.Phe1035Ile) | |
7 | g.117611787T>C | CA368992593 | CFTR | c.3346T>C (p.Phe1116Leu) c.*3060T>C (n.*3060T>C) c.3163T>C (p.Phe1055Leu) c.*1646T>C (n.*1646T>C) c.*3170T>C (n.*3170T>C) c.2920T>C (p.Phe974Leu) c.94T>C (p.Phe32Leu) c.937T>C (p.Phe313Leu) c.996T>C c.2128T>C (p.Phe710Leu) c.3256T>C (p.Phe1086Leu) c.171T>C c.3436T>C (p.Phe1146Leu) c.3103T>C (p.Phe1035Leu) | |
7 | g.117611787T>G | CA368992594 | CFTR | c.3346T>G (p.Phe1116Val) c.*3060T>G (n.*3060T>G) c.3163T>G (p.Phe1055Val) c.*1646T>G (n.*1646T>G) c.*3170T>G (n.*3170T>G) c.2920T>G (p.Phe974Val) c.94T>G (p.Phe32Val) c.937T>G (p.Phe313Val) c.996T>G c.2128T>G (p.Phe710Val) c.3256T>G (p.Phe1086Val) c.171T>G c.3436T>G (p.Phe1146Val) c.3103T>G (p.Phe1035Val) | |
7 | g.117611788T>A | CA368992596 | CFTR | c.3347T>A (p.Phe1116Tyr) c.*3061T>A (n.*3061T>A) c.3164T>A (p.Phe1055Tyr) c.*1647T>A (n.*1647T>A) c.*3171T>A (n.*3171T>A) c.2921T>A (p.Phe974Tyr) c.95T>A (p.Phe32Tyr) c.938T>A (p.Phe313Tyr) c.997T>A c.2129T>A (p.Phe710Tyr) c.3257T>A (p.Phe1086Tyr) c.172T>A c.3437T>A (p.Phe1146Tyr) c.3104T>A (p.Phe1035Tyr) | |
7 | g.117611788T>C | CA4451428 | CFTR | c.3347T>C (p.Phe1116Ser) c.*3061T>C (n.*3061T>C) c.3164T>C (p.Phe1055Ser) c.*1647T>C (n.*1647T>C) c.*3171T>C (n.*3171T>C) c.2921T>C (p.Phe974Ser) c.95T>C (p.Phe32Ser) c.938T>C (p.Phe313Ser) c.997T>C c.2129T>C (p.Phe710Ser) c.3257T>C (p.Phe1086Ser) c.172T>C c.3437T>C (p.Phe1146Ser) c.3104T>C (p.Phe1035Ser) | dbSNP ExAC gnomAD v2 |
7 | g.117611788T>G | CA368992595 | CFTR | c.3347T>G (p.Phe1116Cys) c.*3061T>G (n.*3061T>G) c.3164T>G (p.Phe1055Cys) c.*1647T>G (n.*1647T>G) c.*3171T>G (n.*3171T>G) c.2921T>G (p.Phe974Cys) c.95T>G (p.Phe32Cys) c.938T>G (p.Phe313Cys) c.997T>G c.2129T>G (p.Phe710Cys) c.3257T>G (p.Phe1086Cys) c.172T>G c.3437T>G (p.Phe1146Cys) c.3104T>G (p.Phe1035Cys) | |
7 | g.117611788T= | CA1737387731 | CFTR | c.3347T= (p.Phe1116=) c.*3061T= (n.*3061T=) c.3164T= (p.Phe1055=) c.*1647T= (n.*1647T=) c.*3171T= (n.*3171T=) c.2921T= (p.Phe974=) c.95T= (p.Phe32=) c.938T= (p.Phe313=) c.997T= c.2129T= (p.Phe710=) c.3257T= (p.Phe1086=) c.172T= c.3437T= (p.Phe1146=) c.3104T= (p.Phe1035=) | |
7 | g.117611789C>A | CA368992597 | CFTR | c.3348C>A (p.Phe1116Leu) c.*3062C>A (n.*3062C>A) c.3165C>A (p.Phe1055Leu) c.*1648C>A (n.*1648C>A) c.*3172C>A (n.*3172C>A) c.2922C>A (p.Phe974Leu) c.96C>A (p.Phe32Leu) c.939C>A (p.Phe313Leu) c.998C>A c.2130C>A (p.Phe710Leu) c.3258C>A (p.Phe1086Leu) c.173C>A c.3438C>A (p.Phe1146Leu) c.3105C>A (p.Phe1035Leu) | |
7 | g.117611789C= | CA1737387734 | CFTR | c.3348C= (p.Phe1116=) c.*3062C= (n.*3062C=) c.3165C= (p.Phe1055=) c.*1648C= (n.*1648C=) c.*3172C= (n.*3172C=) c.2922C= (p.Phe974=) c.96C= (p.Phe32=) c.939C= (p.Phe313=) c.998C= c.2130C= (p.Phe710=) c.3258C= (p.Phe1086=) c.173C= c.3438C= (p.Phe1146=) c.3105C= (p.Phe1035=) | |
7 | g.117611789C>G | CA368992598 | CFTR | c.3348C>G (p.Phe1116Leu) c.*3062C>G (n.*3062C>G) c.3165C>G (p.Phe1055Leu) c.*1648C>G (n.*1648C>G) c.*3172C>G (n.*3172C>G) c.2922C>G (p.Phe974Leu) c.96C>G (p.Phe32Leu) c.939C>G (p.Phe313Leu) c.998C>G c.2130C>G (p.Phe710Leu) c.3258C>G (p.Phe1086Leu) c.173C>G c.3438C>G (p.Phe1146Leu) c.3105C>G (p.Phe1035Leu) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117611789C>T | CA457230101 | CFTR | c.3348C>T (p.Phe1116=) c.*3062C>T (n.*3062C>T) c.3165C>T (p.Phe1055=) c.*1648C>T (n.*1648C>T) c.*3172C>T (n.*3172C>T) c.2922C>T (p.Phe974=) c.96C>T (p.Phe32=) c.939C>T (p.Phe313=) c.998C>T c.2130C>T (p.Phe710=) c.3258C>T (p.Phe1086=) c.173C>T c.3438C>T (p.Phe1146=) c.3105C>T (p.Phe1035=) | gnomAD v4 |
7 | g.117611790A>C | CA368992599 | CFTR | c.3349A>C (p.Ile1117Leu) c.*3063A>C (n.*3063A>C) c.3166A>C (p.Ile1056Leu) c.*1649A>C (n.*1649A>C) c.*3173A>C (n.*3173A>C) c.2923A>C (p.Ile975Leu) c.97A>C (p.Ile33Leu) c.940A>C (p.Ile314Leu) c.999A>C c.2131A>C (p.Ile711Leu) c.3259A>C (p.Ile1087Leu) c.174A>C c.3439A>C (p.Ile1147Leu) c.3106A>C (p.Ile1036Leu) | ClinVar |
7 | g.117611790A>G | CA368992600 | CFTR | c.3349A>G (p.Ile1117Val) c.*3063A>G (n.*3063A>G) c.3166A>G (p.Ile1056Val) c.*1649A>G (n.*1649A>G) c.*3173A>G (n.*3173A>G) c.2923A>G (p.Ile975Val) c.97A>G (p.Ile33Val) c.940A>G (p.Ile314Val) c.999A>G c.2131A>G (p.Ile711Val) c.3259A>G (p.Ile1087Val) c.174A>G c.3439A>G (p.Ile1147Val) c.3106A>G (p.Ile1036Val) | ClinVar gnomAD v4 |
7 | g.117611790A>T | CA368992601 | CFTR | c.3349A>T (p.Ile1117Phe) c.*3063A>T (n.*3063A>T) c.3166A>T (p.Ile1056Phe) c.*1649A>T (n.*1649A>T) c.*3173A>T (n.*3173A>T) c.2923A>T (p.Ile975Phe) c.97A>T (p.Ile33Phe) c.940A>T (p.Ile314Phe) c.999A>T c.2131A>T (p.Ile711Phe) c.3259A>T (p.Ile1087Phe) c.174A>T c.3439A>T (p.Ile1147Phe) c.3106A>T (p.Ile1036Phe) | |
7 | g.117611791T>A | CA368992602 | CFTR | c.3350T>A (p.Ile1117Asn) c.*3064T>A (n.*3064T>A) c.3167T>A (p.Ile1056Asn) c.*1650T>A (n.*1650T>A) c.*3174T>A (n.*3174T>A) c.2924T>A (p.Ile975Asn) c.98T>A (p.Ile33Asn) c.941T>A (p.Ile314Asn) c.1000T>A c.2132T>A (p.Ile711Asn) c.3260T>A (p.Ile1087Asn) c.175T>A c.3440T>A (p.Ile1147Asn) c.3107T>A (p.Ile1036Asn) | |
7 | g.117611791T>C | CA4451429 | CFTR | c.3350T>C (p.Ile1117Thr) c.*3064T>C (n.*3064T>C) c.3167T>C (p.Ile1056Thr) c.*1650T>C (n.*1650T>C) c.*3174T>C (n.*3174T>C) c.2924T>C (p.Ile975Thr) c.98T>C (p.Ile33Thr) c.941T>C (p.Ile314Thr) c.1000T>C c.2132T>C (p.Ile711Thr) c.3260T>C (p.Ile1087Thr) c.175T>C c.3440T>C (p.Ile1147Thr) c.3107T>C (p.Ile1036Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611791T>G | CA368992603 | CFTR | c.3350T>G (p.Ile1117Ser) c.*3064T>G (n.*3064T>G) c.3167T>G (p.Ile1056Ser) c.*1650T>G (n.*1650T>G) c.*3174T>G (n.*3174T>G) c.2924T>G (p.Ile975Ser) c.98T>G (p.Ile33Ser) c.941T>G (p.Ile314Ser) c.1000T>G c.2132T>G (p.Ile711Ser) c.3260T>G (p.Ile1087Ser) c.175T>G c.3440T>G (p.Ile1147Ser) c.3107T>G (p.Ile1036Ser) | |
7 | g.117611791T= | CA1737387743 | CFTR | c.3350T= (p.Ile1117=) c.*3064T= (n.*3064T=) c.3167T= (p.Ile1056=) c.*1650T= (n.*1650T=) c.*3174T= (n.*3174T=) c.2924T= (p.Ile975=) c.98T= (p.Ile33=) c.941T= (p.Ile314=) c.1000T= c.2132T= (p.Ile711=) c.3260T= (p.Ile1087=) c.175T= c.3440T= (p.Ile1147=) c.3107T= (p.Ile1036=) | |
7 | g.117611792_117611793del | CA2739279038 | CFTR | c.3351_3352del (p.Ser1118HisfsTer?) c.*3065_*3066del (n.*3065_*3066del) c.3168_3169del (p.Ser1057HisfsTer?) c.*1651_*1652del (n.*1651_*1652del) c.*3175_*3176del (n.*3175_*3176del) c.2925_2926del (p.Ser976HisfsTer?) c.99_100del (p.Ser34HisfsTer?) c.942_943del (p.Ser315HisfsTer?) c.1001_1002del c.2133_2134del (p.Ser712HisfsTer?) c.3261_3262del (p.Ser1088HisfsTer?) c.176_177del c.3441_3442del (p.Ser1148HisfsTer?) c.3108_3109del (p.Ser1037HisfsTer?) | ClinVar |
7 | g.117611792T>A | CA457230102 | CFTR | c.3351T>A (p.Ile1117=) c.*3065T>A (n.*3065T>A) c.3168T>A (p.Ile1056=) c.*1651T>A (n.*1651T>A) c.*3175T>A (n.*3175T>A) c.2925T>A (p.Ile975=) c.99T>A (p.Ile33=) c.942T>A (p.Ile314=) c.1001T>A c.2133T>A (p.Ile711=) c.3261T>A (p.Ile1087=) c.176T>A c.3441T>A (p.Ile1147=) c.3108T>A (p.Ile1036=) | |
7 | g.117611792T>C | CA457230103 | CFTR | c.3351T>C (p.Ile1117=) c.*3065T>C (n.*3065T>C) c.3168T>C (p.Ile1056=) c.*1651T>C (n.*1651T>C) c.*3175T>C (n.*3175T>C) c.2925T>C (p.Ile975=) c.99T>C (p.Ile33=) c.942T>C (p.Ile314=) c.1001T>C c.2133T>C (p.Ile711=) c.3261T>C (p.Ile1087=) c.176T>C c.3441T>C (p.Ile1147=) c.3108T>C (p.Ile1036=) | |
7 | g.117611792T>G | CA368992604 | CFTR | c.3351T>G (p.Ile1117Met) c.*3065T>G (n.*3065T>G) c.3168T>G (p.Ile1056Met) c.*1651T>G (n.*1651T>G) c.*3175T>G (n.*3175T>G) c.2925T>G (p.Ile975Met) c.99T>G (p.Ile33Met) c.942T>G (p.Ile314Met) c.1001T>G c.2133T>G (p.Ile711Met) c.3261T>G (p.Ile1087Met) c.176T>G c.3441T>G (p.Ile1147Met) c.3108T>G (p.Ile1036Met) | |
7 | g.117611793T>A | CA368992605 | CFTR | c.3352T>A (p.Ser1118Thr) c.*3066T>A (n.*3066T>A) c.3169T>A (p.Ser1057Thr) c.*1652T>A (n.*1652T>A) c.*3176T>A (n.*3176T>A) c.2926T>A (p.Ser976Thr) c.100T>A (p.Ser34Thr) c.943T>A (p.Ser315Thr) c.1002T>A c.2134T>A (p.Ser712Thr) c.3262T>A (p.Ser1088Thr) c.177T>A c.3442T>A (p.Ser1148Thr) c.3109T>A (p.Ser1037Thr) | |
7 | g.117611793T>C | CA368992606 | CFTR | c.3352T>C (p.Ser1118Pro) c.*3066T>C (n.*3066T>C) c.3169T>C (p.Ser1057Pro) c.*1652T>C (n.*1652T>C) c.*3176T>C (n.*3176T>C) c.2926T>C (p.Ser976Pro) c.100T>C (p.Ser34Pro) c.943T>C (p.Ser315Pro) c.1002T>C c.2134T>C (p.Ser712Pro) c.3262T>C (p.Ser1088Pro) c.177T>C c.3442T>C (p.Ser1148Pro) c.3109T>C (p.Ser1037Pro) | ClinVar dbSNP gnomAD v4 |
7 | g.117611793T>G | CA368992607 | CFTR | c.3352T>G (p.Ser1118Ala) c.*3066T>G (n.*3066T>G) c.3169T>G (p.Ser1057Ala) c.*1652T>G (n.*1652T>G) c.*3176T>G (n.*3176T>G) c.2926T>G (p.Ser976Ala) c.100T>G (p.Ser34Ala) c.943T>G (p.Ser315Ala) c.1002T>G c.2134T>G (p.Ser712Ala) c.3262T>G (p.Ser1088Ala) c.177T>G c.3442T>G (p.Ser1148Ala) c.3109T>G (p.Ser1037Ala) | |
7 | g.117611793T= | CA1737387750 | CFTR | c.3352T= (p.Ser1118=) c.*3066T= (n.*3066T=) c.3169T= (p.Ser1057=) c.*1652T= (n.*1652T=) c.*3176T= (n.*3176T=) c.2926T= (p.Ser976=) c.100T= (p.Ser34=) c.943T= (p.Ser315=) c.1002T= c.2134T= (p.Ser712=) c.3262T= (p.Ser1088=) c.177T= c.3442T= (p.Ser1148=) c.3109T= (p.Ser1037=) | |
7 | g.117611794C>A | CA368992608 | CFTR | c.3353C>A (p.Ser1118Tyr) c.*3067C>A (n.*3067C>A) c.3170C>A (p.Ser1057Tyr) c.*1653C>A (n.*1653C>A) c.*3177C>A (n.*3177C>A) c.2927C>A (p.Ser976Tyr) c.101C>A (p.Ser34Tyr) c.944C>A (p.Ser315Tyr) c.1003C>A c.2135C>A (p.Ser712Tyr) c.3263C>A (p.Ser1088Tyr) c.178C>A c.3443C>A (p.Ser1148Tyr) c.3110C>A (p.Ser1037Tyr) | |
7 | g.117611794C= | CA1737387758 | CFTR | c.3353C= (p.Ser1118=) c.*3067C= (n.*3067C=) c.3170C= (p.Ser1057=) c.*1653C= (n.*1653C=) c.*3177C= (n.*3177C=) c.2927C= (p.Ser976=) c.101C= (p.Ser34=) c.944C= (p.Ser315=) c.1003C= c.2135C= (p.Ser712=) c.3263C= (p.Ser1088=) c.178C= c.3443C= (p.Ser1148=) c.3110C= (p.Ser1037=) | |
7 | g.117611794C>G | CA327150 | CFTR | c.3353C>G (p.Ser1118Cys) c.*3067C>G (n.*3067C>G) c.3170C>G (p.Ser1057Cys) c.*1653C>G (n.*1653C>G) c.*3177C>G (n.*3177C>G) c.2927C>G (p.Ser976Cys) c.101C>G (p.Ser34Cys) c.944C>G (p.Ser315Cys) c.1003C>G c.2135C>G (p.Ser712Cys) c.3263C>G (p.Ser1088Cys) c.178C>G c.3443C>G (p.Ser1148Cys) c.3110C>G (p.Ser1037Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611794C>T | CA327152 | CFTR | c.3353C>T (p.Ser1118Phe) c.*3067C>T (n.*3067C>T) c.3170C>T (p.Ser1057Phe) c.*1653C>T (n.*1653C>T) c.*3177C>T (n.*3177C>T) c.2927C>T (p.Ser976Phe) c.101C>T (p.Ser34Phe) c.944C>T (p.Ser315Phe) c.1003C>T c.2135C>T (p.Ser712Phe) c.3263C>T (p.Ser1088Phe) c.178C>T c.3443C>T (p.Ser1148Phe) c.3110C>T (p.Ser1037Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611795C>A | CA457230104 | CFTR | c.3354C>A (p.Ser1118=) c.*3068C>A (n.*3068C>A) c.3171C>A (p.Ser1057=) c.*1654C>A (n.*1654C>A) c.*3178C>A (n.*3178C>A) c.2928C>A (p.Ser976=) c.102C>A (p.Ser34=) c.945C>A (p.Ser315=) c.1004C>A c.2136C>A (p.Ser712=) c.3264C>A (p.Ser1088=) c.179C>A c.3444C>A (p.Ser1148=) c.3111C>A (p.Ser1037=) | |
7 | g.117611795C>G | CA457230105 | CFTR | c.3354C>G (p.Ser1118=) c.*3068C>G (n.*3068C>G) c.3171C>G (p.Ser1057=) c.*1654C>G (n.*1654C>G) c.*3178C>G (n.*3178C>G) c.2928C>G (p.Ser976=) c.102C>G (p.Ser34=) c.945C>G (p.Ser315=) c.1004C>G c.2136C>G (p.Ser712=) c.3264C>G (p.Ser1088=) c.179C>G c.3444C>G (p.Ser1148=) c.3111C>G (p.Ser1037=) | |
7 | g.117611795C>T | CA457230106 | CFTR | c.3354C>T (p.Ser1118=) c.*3068C>T (n.*3068C>T) c.3171C>T (p.Ser1057=) c.*1654C>T (n.*1654C>T) c.*3178C>T (n.*3178C>T) c.2928C>T (p.Ser976=) c.102C>T (p.Ser34=) c.945C>T (p.Ser315=) c.1004C>T c.2136C>T (p.Ser712=) c.3264C>T (p.Ser1088=) c.179C>T c.3444C>T (p.Ser1148=) c.3111C>T (p.Ser1037=) | gnomAD v4 |
7 | g.117611796A= | CA1737387769 | CFTR | c.3355A= (p.Ile1119=) c.*3069A= (n.*3069A=) c.3172A= (p.Ile1058=) c.*1655A= (n.*1655A=) c.*3179A= (n.*3179A=) c.2929A= (p.Ile977=) c.103A= (p.Ile35=) c.946A= (p.Ile316=) c.1005A= c.2137A= (p.Ile713=) c.3265A= (p.Ile1089=) c.180A= c.3445A= (p.Ile1149=) c.3112A= (p.Ile1038=) | |
7 | g.117611796A>C | CA368992609 | CFTR | c.3355A>C (p.Ile1119Leu) c.*3069A>C (n.*3069A>C) c.3172A>C (p.Ile1058Leu) c.*1655A>C (n.*1655A>C) c.*3179A>C (n.*3179A>C) c.2929A>C (p.Ile977Leu) c.103A>C (p.Ile35Leu) c.946A>C (p.Ile316Leu) c.1005A>C c.2137A>C (p.Ile713Leu) c.3265A>C (p.Ile1089Leu) c.180A>C c.3445A>C (p.Ile1149Leu) c.3112A>C (p.Ile1038Leu) | |
7 | g.117611796A>G | CA368992610 | CFTR | c.3355A>G (p.Ile1119Val) c.*3069A>G (n.*3069A>G) c.3172A>G (p.Ile1058Val) c.*1655A>G (n.*1655A>G) c.*3179A>G (n.*3179A>G) c.2929A>G (p.Ile977Val) c.103A>G (p.Ile35Val) c.946A>G (p.Ile316Val) c.1005A>G c.2137A>G (p.Ile713Val) c.3265A>G (p.Ile1089Val) c.180A>G c.3445A>G (p.Ile1149Val) c.3112A>G (p.Ile1038Val) | dbSNP |
7 | g.117611796A>T | CA368992611 | CFTR | c.3355A>T (p.Ile1119Phe) c.*3069A>T (n.*3069A>T) c.3172A>T (p.Ile1058Phe) c.*1655A>T (n.*1655A>T) c.*3179A>T (n.*3179A>T) c.2929A>T (p.Ile977Phe) c.103A>T (p.Ile35Phe) c.946A>T (p.Ile316Phe) c.1005A>T c.2137A>T (p.Ile713Phe) c.3265A>T (p.Ile1089Phe) c.180A>T c.3445A>T (p.Ile1149Phe) c.3112A>T (p.Ile1038Phe) | ClinVar |
7 | g.117611797T>A | CA368992612 | CFTR | c.3356T>A (p.Ile1119Asn) c.*3070T>A (n.*3070T>A) c.3173T>A (p.Ile1058Asn) c.*1656T>A (n.*1656T>A) c.*3180T>A (n.*3180T>A) c.2930T>A (p.Ile977Asn) c.104T>A (p.Ile35Asn) c.947T>A (p.Ile316Asn) c.1006T>A c.2138T>A (p.Ile713Asn) c.3266T>A (p.Ile1089Asn) c.181T>A c.3446T>A (p.Ile1149Asn) c.3113T>A (p.Ile1038Asn) | |
7 | g.117611797T>C | CA368992613 | CFTR | c.3356T>C (p.Ile1119Thr) c.*3070T>C (n.*3070T>C) c.3173T>C (p.Ile1058Thr) c.*1656T>C (n.*1656T>C) c.*3180T>C (n.*3180T>C) c.2930T>C (p.Ile977Thr) c.104T>C (p.Ile35Thr) c.947T>C (p.Ile316Thr) c.1006T>C c.2138T>C (p.Ile713Thr) c.3266T>C (p.Ile1089Thr) c.181T>C c.3446T>C (p.Ile1149Thr) c.3113T>C (p.Ile1038Thr) | ClinVar dbSNP |
7 | g.117611797T>G | CA368992614 | CFTR | c.3356T>G (p.Ile1119Ser) c.*3070T>G (n.*3070T>G) c.3173T>G (p.Ile1058Ser) c.*1656T>G (n.*1656T>G) c.*3180T>G (n.*3180T>G) c.2930T>G (p.Ile977Ser) c.104T>G (p.Ile35Ser) c.947T>G (p.Ile316Ser) c.1006T>G c.2138T>G (p.Ile713Ser) c.3266T>G (p.Ile1089Ser) c.181T>G c.3446T>G (p.Ile1149Ser) c.3113T>G (p.Ile1038Ser) | |
7 | g.117611797T= | CA1737387773 | CFTR | c.3356T= (p.Ile1119=) c.*3070T= (n.*3070T=) c.3173T= (p.Ile1058=) c.*1656T= (n.*1656T=) c.*3180T= (n.*3180T=) c.2930T= (p.Ile977=) c.104T= (p.Ile35=) c.947T= (p.Ile316=) c.1006T= c.2138T= (p.Ile713=) c.3266T= (p.Ile1089=) c.181T= c.3446T= (p.Ile1149=) c.3113T= (p.Ile1038=) | |
7 | g.117611798T>A | CA457230109 | CFTR | c.3357T>A (p.Ile1119=) c.*3071T>A (n.*3071T>A) c.3174T>A (p.Ile1058=) c.*1657T>A (n.*1657T>A) c.*3181T>A (n.*3181T>A) c.2931T>A (p.Ile977=) c.105T>A (p.Ile35=) c.948T>A (p.Ile316=) c.1007T>A c.2139T>A (p.Ile713=) c.3267T>A (p.Ile1089=) c.182T>A c.3447T>A (p.Ile1149=) c.3114T>A (p.Ile1038=) | |
7 | g.117611798T>C | CA457230110 | CFTR | c.3357T>C (p.Ile1119=) c.*3071T>C (n.*3071T>C) c.3174T>C (p.Ile1058=) c.*1657T>C (n.*1657T>C) c.*3181T>C (n.*3181T>C) c.2931T>C (p.Ile977=) c.105T>C (p.Ile35=) c.948T>C (p.Ile316=) c.1007T>C c.2139T>C (p.Ile713=) c.3267T>C (p.Ile1089=) c.182T>C c.3447T>C (p.Ile1149=) c.3114T>C (p.Ile1038=) | |
7 | g.117611798T>G | CA368992615 | CFTR | c.3357T>G (p.Ile1119Met) c.*3071T>G (n.*3071T>G) c.3174T>G (p.Ile1058Met) c.*1657T>G (n.*1657T>G) c.*3181T>G (n.*3181T>G) c.2931T>G (p.Ile977Met) c.105T>G (p.Ile35Met) c.948T>G (p.Ile316Met) c.1007T>G c.2139T>G (p.Ile713Met) c.3267T>G (p.Ile1089Met) c.182T>G c.3447T>G (p.Ile1149Met) c.3114T>G (p.Ile1038Met) | |
7 | g.117611798_117611800delinsA | CA2580076390 | CFTR | c.3357_3359delinsA (p.Leu1120AsnfsTer?) c.*3071_*3073delinsA (n.*3071_*3073delinsA) c.3174_3176delinsA (p.Leu1059AsnfsTer?) c.*1657_*1659delinsA (n.*1657_*1659delinsA) c.*3181_*3183delinsA (n.*3181_*3183delinsA) c.2931_2933delinsA (p.Leu978AsnfsTer?) c.105_107delinsA (p.Leu36AsnfsTer?) c.948_950delinsA (p.Leu317AsnfsTer?) c.1007_1009delinsA c.2139_2141delinsA (p.Leu714AsnfsTer?) c.3267_3269delinsA (p.Leu1090AsnfsTer?) c.182_184delinsA c.3447_3449delinsA (p.Leu1150AsnfsTer?) c.3114_3116delinsA (p.Leu1039AsnfsTer?) | ClinVar |
7 | g.117611799T>A | CA368992616 | CFTR | c.3358T>A (p.Leu1120Ile) c.*3072T>A (n.*3072T>A) c.3175T>A (p.Leu1059Ile) c.*1658T>A (n.*1658T>A) c.*3182T>A (n.*3182T>A) c.2932T>A (p.Leu978Ile) c.106T>A (p.Leu36Ile) c.949T>A (p.Leu317Ile) c.1008T>A c.2140T>A (p.Leu714Ile) c.3268T>A (p.Leu1090Ile) c.183T>A c.3448T>A (p.Leu1150Ile) c.3115T>A (p.Leu1039Ile) | |
7 | g.117611799T>C | CA457230111 | CFTR | c.3358T>C (p.Leu1120=) c.*3072T>C (n.*3072T>C) c.3175T>C (p.Leu1059=) c.*1658T>C (n.*1658T>C) c.*3182T>C (n.*3182T>C) c.2932T>C (p.Leu978=) c.106T>C (p.Leu36=) c.949T>C (p.Leu317=) c.1008T>C c.2140T>C (p.Leu714=) c.3268T>C (p.Leu1090=) c.183T>C c.3448T>C (p.Leu1150=) c.3115T>C (p.Leu1039=) | |
7 | g.117611799T>G | CA368992617 | CFTR | c.3358T>G (p.Leu1120Val) c.*3072T>G (n.*3072T>G) c.3175T>G (p.Leu1059Val) c.*1658T>G (n.*1658T>G) c.*3182T>G (n.*3182T>G) c.2932T>G (p.Leu978Val) c.106T>G (p.Leu36Val) c.949T>G (p.Leu317Val) c.1008T>G c.2140T>G (p.Leu714Val) c.3268T>G (p.Leu1090Val) c.183T>G c.3448T>G (p.Leu1150Val) c.3115T>G (p.Leu1039Val) | |
7 | g.117611800T>A | CA368992618 | CFTR | c.3359T>A (p.Leu1120Ter) c.*3073T>A (n.*3073T>A) c.3176T>A (p.Leu1059Ter) c.*1659T>A (n.*1659T>A) c.*3183T>A (n.*3183T>A) c.2933T>A (p.Leu978Ter) c.107T>A (p.Leu36Ter) c.950T>A (p.Leu317Ter) c.1009T>A c.2141T>A (p.Leu714Ter) c.3269T>A (p.Leu1090Ter) c.184T>A c.3449T>A (p.Leu1150Ter) c.3116T>A (p.Leu1039Ter) | |
7 | g.117611800T>C | CA368992619 | CFTR | c.3359T>C (p.Leu1120Ser) c.*3073T>C (n.*3073T>C) c.3176T>C (p.Leu1059Ser) c.*1659T>C (n.*1659T>C) c.*3183T>C (n.*3183T>C) c.2933T>C (p.Leu978Ser) c.107T>C (p.Leu36Ser) c.950T>C (p.Leu317Ser) c.1009T>C c.2141T>C (p.Leu714Ser) c.3269T>C (p.Leu1090Ser) c.184T>C c.3449T>C (p.Leu1150Ser) c.3116T>C (p.Leu1039Ser) | |
7 | g.117611800T>G | CA368992620 | CFTR | c.3359T>G (p.Leu1120Ter) c.*3073T>G (n.*3073T>G) c.3176T>G (p.Leu1059Ter) c.*1659T>G (n.*1659T>G) c.*3183T>G (n.*3183T>G) c.2933T>G (p.Leu978Ter) c.107T>G (p.Leu36Ter) c.950T>G (p.Leu317Ter) c.1009T>G c.2141T>G (p.Leu714Ter) c.3269T>G (p.Leu1090Ter) c.184T>G c.3449T>G (p.Leu1150Ter) c.3116T>G (p.Leu1039Ter) | |
7 | g.117611800_117611803del | CA913111899 | CFTR | c.3359_3362del (p.Leu1120Ter) c.*3073_*3076del (n.*3073_*3076del) c.3176_3179del (p.Leu1059Ter) c.*1659_*1662del (n.*1659_*1662del) c.*3183_*3186del (n.*3183_*3186del) c.2933_2936del (p.Leu978Ter) c.107_110del (p.Leu36Ter) c.950_953del (p.Leu317Ter) c.1009_1012del c.2141_2144del (p.Leu714Ter) c.3269_3272del (p.Leu1090Ter) c.184_187del c.3449_3452del (p.Leu1150Ter) c.3116_3119del (p.Leu1039Ter) | |
7 | g.117611800_117611803delinsTAAC | CA1737387784 | CFTR | c.3359_3362delinsTAAC (p.Leu1120=) c.*3073_*3076delinsTAAC (n.*3073_*3076delinsTAAC) c.3176_3179delinsTAAC (p.Leu1059=) c.*1659_*1662delinsTAAC (n.*1659_*1662delinsTAAC) c.*3183_*3186delinsTAAC (n.*3183_*3186delinsTAAC) c.2933_2936delinsTAAC (p.Leu978=) c.107_110delinsTAAC (p.Leu36=) c.950_953delinsTAAC (p.Leu317=) c.1009_1012delinsTAAC c.2141_2144delinsTAAC (p.Leu714=) c.3269_3272delinsTAAC (p.Leu1090=) c.184_187delinsTAAC c.3449_3452delinsTAAC (p.Leu1150=) c.3116_3119delinsTAAC (p.Leu1039=) | |
7 | g.117611801A>C | CA368992621 | CFTR | c.3360A>C (p.Leu1120Phe) c.*3074A>C (n.*3074A>C) c.3177A>C (p.Leu1059Phe) c.*1660A>C (n.*1660A>C) c.*3184A>C (n.*3184A>C) c.2934A>C (p.Leu978Phe) c.108A>C (p.Leu36Phe) c.951A>C (p.Leu317Phe) c.1010A>C c.2142A>C (p.Leu714Phe) c.3270A>C (p.Leu1090Phe) c.185A>C c.3450A>C (p.Leu1150Phe) c.3117A>C (p.Leu1039Phe) | ClinVar |
7 | g.117611801A>G | CA457230113 | CFTR | c.3360A>G (p.Leu1120=) c.*3074A>G (n.*3074A>G) c.3177A>G (p.Leu1059=) c.*1660A>G (n.*1660A>G) c.*3184A>G (n.*3184A>G) c.2934A>G (p.Leu978=) c.108A>G (p.Leu36=) c.951A>G (p.Leu317=) c.1010A>G c.2142A>G (p.Leu714=) c.3270A>G (p.Leu1090=) c.185A>G c.3450A>G (p.Leu1150=) c.3117A>G (p.Leu1039=) | |
7 | g.117611801A>T | CA368992622 | CFTR | c.3360A>T (p.Leu1120Phe) c.*3074A>T (n.*3074A>T) c.3177A>T (p.Leu1059Phe) c.*1660A>T (n.*1660A>T) c.*3184A>T (n.*3184A>T) c.2934A>T (p.Leu978Phe) c.108A>T (p.Leu36Phe) c.951A>T (p.Leu317Phe) c.1010A>T c.2142A>T (p.Leu714Phe) c.3270A>T (p.Leu1090Phe) c.185A>T c.3450A>T (p.Leu1150Phe) c.3117A>T (p.Leu1039Phe) | |
7 | g.117611805_117611807del | CA658822509 | CFTR | c.3364_3366del (p.Thr1122del) c.*3078_*3080del (n.*3078_*3080del) c.3181_3183del (p.Thr1061del) c.*1664_*1666del (n.*1664_*1666del) c.*3188_*3190del (n.*3188_*3190del) c.2938_2940del (p.Thr980del) c.112_114del (p.Thr38del) c.955_957del (p.Thr319del) c.1014_1016del c.2146_2148del (p.Thr716del) c.3274_3276del (p.Thr1092del) c.189_191del c.3454_3456del (p.Thr1152del) c.3121_3123del (p.Thr1041del) | ClinVar dbSNP |
7 | g.117611802A>C | CA368992625 | CFTR | c.3361A>C (p.Thr1121Pro) c.*3075A>C (n.*3075A>C) c.3178A>C (p.Thr1060Pro) c.*1661A>C (n.*1661A>C) c.*3185A>C (n.*3185A>C) c.2935A>C (p.Thr979Pro) c.109A>C (p.Thr37Pro) c.952A>C (p.Thr318Pro) c.1011A>C c.2143A>C (p.Thr715Pro) c.3271A>C (p.Thr1091Pro) c.186A>C c.3451A>C (p.Thr1151Pro) c.3118A>C (p.Thr1040Pro) | |
7 | g.117611802A>G | CA368992623 | CFTR | c.3361A>G (p.Thr1121Ala) c.*3075A>G (n.*3075A>G) c.3178A>G (p.Thr1060Ala) c.*1661A>G (n.*1661A>G) c.*3185A>G (n.*3185A>G) c.2935A>G (p.Thr979Ala) c.109A>G (p.Thr37Ala) c.952A>G (p.Thr318Ala) c.1011A>G c.2143A>G (p.Thr715Ala) c.3271A>G (p.Thr1091Ala) c.186A>G c.3451A>G (p.Thr1151Ala) c.3118A>G (p.Thr1040Ala) | gnomAD v4 |
7 | g.117611802A>T | CA368992624 | CFTR | c.3361A>T (p.Thr1121Ser) c.*3075A>T (n.*3075A>T) c.3178A>T (p.Thr1060Ser) c.*1661A>T (n.*1661A>T) c.*3185A>T (n.*3185A>T) c.2935A>T (p.Thr979Ser) c.109A>T (p.Thr37Ser) c.952A>T (p.Thr318Ser) c.1011A>T c.2143A>T (p.Thr715Ser) c.3271A>T (p.Thr1091Ser) c.186A>T c.3451A>T (p.Thr1151Ser) c.3118A>T (p.Thr1040Ser) | |
7 | g.117611803del | CA2573332344 | CFTR | c.3362del (p.Thr1121LysfsTer13) c.*3076del (n.*3076del) c.3179del (p.Thr1060LysfsTer13) c.*1662del (n.*1662del) c.3362del (p.Thr1121LysfsTer11) c.*3186del (n.*3186del) c.2936del (p.Thr979LysfsTer13) c.110del (p.Thr37LysfsTer13) c.953del (p.Thr318LysfsTer13) c.1012del c.2144del (p.Thr715LysfsTer13) c.3272del (p.Thr1091LysfsTer13) c.187del c.3452del (p.Thr1151LysfsTer13) c.3119del (p.Thr1040LysfsTer13) | |
7 | g.117611803C>A | CA368992626 | CFTR | c.3362C>A (p.Thr1121Lys) c.*3076C>A (n.*3076C>A) c.3179C>A (p.Thr1060Lys) c.*1662C>A (n.*1662C>A) c.*3186C>A (n.*3186C>A) c.2936C>A (p.Thr979Lys) c.110C>A (p.Thr37Lys) c.953C>A (p.Thr318Lys) c.1012C>A c.2144C>A (p.Thr715Lys) c.3272C>A (p.Thr1091Lys) c.187C>A c.3452C>A (p.Thr1151Lys) c.3119C>A (p.Thr1040Lys) | dbSNP gnomAD v2 |
7 | g.117611803C= | CA1737387801 | CFTR | c.3362C= (p.Thr1121=) c.*3076C= (n.*3076C=) c.3179C= (p.Thr1060=) c.*1662C= (n.*1662C=) c.*3186C= (n.*3186C=) c.2936C= (p.Thr979=) c.110C= (p.Thr37=) c.953C= (p.Thr318=) c.1012C= c.2144C= (p.Thr715=) c.3272C= (p.Thr1091=) c.187C= c.3452C= (p.Thr1151=) c.3119C= (p.Thr1040=) | |
7 | g.117611803C>G | CA368992627 | CFTR | c.3362C>G (p.Thr1121Arg) c.*3076C>G (n.*3076C>G) c.3179C>G (p.Thr1060Arg) c.*1662C>G (n.*1662C>G) c.*3186C>G (n.*3186C>G) c.2936C>G (p.Thr979Arg) c.110C>G (p.Thr37Arg) c.953C>G (p.Thr318Arg) c.1012C>G c.2144C>G (p.Thr715Arg) c.3272C>G (p.Thr1091Arg) c.187C>G c.3452C>G (p.Thr1151Arg) c.3119C>G (p.Thr1040Arg) | |
7 | g.117611803C>T | CA368992628 | CFTR | c.3362C>T (p.Thr1121Ile) c.*3076C>T (n.*3076C>T) c.3179C>T (p.Thr1060Ile) c.*1662C>T (n.*1662C>T) c.*3186C>T (n.*3186C>T) c.2936C>T (p.Thr979Ile) c.110C>T (p.Thr37Ile) c.953C>T (p.Thr318Ile) c.1012C>T c.2144C>T (p.Thr715Ile) c.3272C>T (p.Thr1091Ile) c.187C>T c.3452C>T (p.Thr1151Ile) c.3119C>T (p.Thr1040Ile) | |
7 | g.117611803_117611804delinsCA | CA1737387799 | CFTR | c.3362_3363delinsCA (p.Thr1121=) c.*3076_*3077delinsCA (n.*3076_*3077delinsCA) c.3179_3180delinsCA (p.Thr1060=) c.*1662_*1663delinsCA (n.*1662_*1663delinsCA) c.*3186_*3187delinsCA (n.*3186_*3187delinsCA) c.2936_2937delinsCA (p.Thr979=) c.110_111delinsCA (p.Thr37=) c.953_954delinsCA (p.Thr318=) c.1012_1013delinsCA c.2144_2145delinsCA (p.Thr715=) c.3272_3273delinsCA (p.Thr1091=) c.187_188delinsCA c.3452_3453delinsCA (p.Thr1151=) c.3119_3120delinsCA (p.Thr1040=) | |
7 | g.117611804A>C | CA457230114 | CFTR | c.3363A>C (p.Thr1121=) c.*3077A>C (n.*3077A>C) c.3180A>C (p.Thr1060=) c.*1663A>C (n.*1663A>C) c.*3187A>C (n.*3187A>C) c.2937A>C (p.Thr979=) c.111A>C (p.Thr37=) c.954A>C (p.Thr318=) c.1013A>C c.2145A>C (p.Thr715=) c.3273A>C (p.Thr1091=) c.188A>C c.3453A>C (p.Thr1151=) c.3120A>C (p.Thr1040=) | |
7 | g.117611804A>G | CA457230115 | CFTR | c.3363A>G (p.Thr1121=) c.*3077A>G (n.*3077A>G) c.3180A>G (p.Thr1060=) c.*1663A>G (n.*1663A>G) c.*3187A>G (n.*3187A>G) c.2937A>G (p.Thr979=) c.111A>G (p.Thr37=) c.954A>G (p.Thr318=) c.1013A>G c.2145A>G (p.Thr715=) c.3273A>G (p.Thr1091=) c.188A>G c.3453A>G (p.Thr1151=) c.3120A>G (p.Thr1040=) | |
7 | g.117611804A>T | CA457230116 | CFTR | c.3363A>T (p.Thr1121=) c.*3077A>T (n.*3077A>T) c.3180A>T (p.Thr1060=) c.*1663A>T (n.*1663A>T) c.*3187A>T (n.*3187A>T) c.2937A>T (p.Thr979=) c.111A>T (p.Thr37=) c.954A>T (p.Thr318=) c.1013A>T c.2145A>T (p.Thr715=) c.3273A>T (p.Thr1091=) c.188A>T c.3453A>T (p.Thr1151=) c.3120A>T (p.Thr1040=) | |
7 | g.117611805del | CA327154 | CFTR | c.3364del (p.Thr1122GlnfsTer12) c.*3078del (n.*3078del) c.3181del (p.Thr1061GlnfsTer12) c.*1664del (n.*1664del) c.3364del (p.Thr1122GlnfsTer10) c.*3188del (n.*3188del) c.2938del (p.Thr980GlnfsTer12) c.112del (p.Thr38GlnfsTer12) c.955del (p.Thr319GlnfsTer12) c.1014del c.2146del (p.Thr716GlnfsTer12) c.3274del (p.Thr1092GlnfsTer12) c.189del c.3454del (p.Thr1152GlnfsTer12) c.3121del (p.Thr1041GlnfsTer12) | dbSNP |
7 | g.117611805A= | CA1737387809 | CFTR | c.3364A= (p.Thr1122=) c.*3078A= (n.*3078A=) c.3181A= (p.Thr1061=) c.*1664A= (n.*1664A=) c.*3188A= (n.*3188A=) c.2938A= (p.Thr980=) c.112A= (p.Thr38=) c.955A= (p.Thr319=) c.1014A= c.2146A= (p.Thr716=) c.3274A= (p.Thr1092=) c.189A= c.3454A= (p.Thr1152=) c.3121A= (p.Thr1041=) | |
7 | g.117611805A>C | CA368992629 | CFTR | c.3364A>C (p.Thr1122Pro) c.*3078A>C (n.*3078A>C) c.3181A>C (p.Thr1061Pro) c.*1664A>C (n.*1664A>C) c.*3188A>C (n.*3188A>C) c.2938A>C (p.Thr980Pro) c.112A>C (p.Thr38Pro) c.955A>C (p.Thr319Pro) c.1014A>C c.2146A>C (p.Thr716Pro) c.3274A>C (p.Thr1092Pro) c.189A>C c.3454A>C (p.Thr1152Pro) c.3121A>C (p.Thr1041Pro) | |
7 | g.117611805A>G | CA368992630 | CFTR | c.3364A>G (p.Thr1122Ala) c.*3078A>G (n.*3078A>G) c.3181A>G (p.Thr1061Ala) c.*1664A>G (n.*1664A>G) c.*3188A>G (n.*3188A>G) c.2938A>G (p.Thr980Ala) c.112A>G (p.Thr38Ala) c.955A>G (p.Thr319Ala) c.1014A>G c.2146A>G (p.Thr716Ala) c.3274A>G (p.Thr1092Ala) c.189A>G c.3454A>G (p.Thr1152Ala) c.3121A>G (p.Thr1041Ala) | ClinVar dbSNP gnomAD v4 |
7 | g.117611805A>T | CA368992631 | CFTR | c.3364A>T (p.Thr1122Ser) c.*3078A>T (n.*3078A>T) c.3181A>T (p.Thr1061Ser) c.*1664A>T (n.*1664A>T) c.*3188A>T (n.*3188A>T) c.2938A>T (p.Thr980Ser) c.112A>T (p.Thr38Ser) c.955A>T (p.Thr319Ser) c.1014A>T c.2146A>T (p.Thr716Ser) c.3274A>T (p.Thr1092Ser) c.189A>T c.3454A>T (p.Thr1152Ser) c.3121A>T (p.Thr1041Ser) | |
7 | g.117611806del | CA2573332390 | CFTR | c.3365del (p.Thr1122LysfsTer12) c.*3079del (n.*3079del) c.3182del (p.Thr1061LysfsTer12) c.*1665del (n.*1665del) c.3365del (p.Thr1122LysfsTer10) c.*3189del (n.*3189del) c.2939del (p.Thr980LysfsTer12) c.113del (p.Thr38LysfsTer12) c.956del (p.Thr319LysfsTer12) c.1015del c.2147del (p.Thr716LysfsTer12) c.3275del (p.Thr1092LysfsTer12) c.190del c.3455del (p.Thr1152LysfsTer12) c.3122del (p.Thr1041LysfsTer12) | gnomAD v4 |
7 | g.117611806C>A | CA368992632 | CFTR | c.3365C>A (p.Thr1122Lys) c.*3079C>A (n.*3079C>A) c.3182C>A (p.Thr1061Lys) c.*1665C>A (n.*1665C>A) c.*3189C>A (n.*3189C>A) c.2939C>A (p.Thr980Lys) c.113C>A (p.Thr38Lys) c.956C>A (p.Thr319Lys) c.1015C>A c.2147C>A (p.Thr716Lys) c.3275C>A (p.Thr1092Lys) c.190C>A c.3455C>A (p.Thr1152Lys) c.3122C>A (p.Thr1041Lys) | |
7 | g.117611806C>G | CA368992633 | CFTR | c.3365C>G (p.Thr1122Arg) c.*3079C>G (n.*3079C>G) c.3182C>G (p.Thr1061Arg) c.*1665C>G (n.*1665C>G) c.*3189C>G (n.*3189C>G) c.2939C>G (p.Thr980Arg) c.113C>G (p.Thr38Arg) c.956C>G (p.Thr319Arg) c.1015C>G c.2147C>G (p.Thr716Arg) c.3275C>G (p.Thr1092Arg) c.190C>G c.3455C>G (p.Thr1152Arg) c.3122C>G (p.Thr1041Arg) | |
7 | g.117611806C>T | CA368992634 | CFTR | c.3365C>T (p.Thr1122Ile) c.*3079C>T (n.*3079C>T) c.3182C>T (p.Thr1061Ile) c.*1665C>T (n.*1665C>T) c.*3189C>T (n.*3189C>T) c.2939C>T (p.Thr980Ile) c.113C>T (p.Thr38Ile) c.956C>T (p.Thr319Ile) c.1015C>T c.2147C>T (p.Thr716Ile) c.3275C>T (p.Thr1092Ile) c.190C>T c.3455C>T (p.Thr1152Ile) c.3122C>T (p.Thr1041Ile) | |
7 | g.117611807A>C | CA457230117 | CFTR | c.3366A>C (p.Thr1122=) c.*3080A>C (n.*3080A>C) c.3183A>C (p.Thr1061=) c.*1666A>C (n.*1666A>C) c.*3190A>C (n.*3190A>C) c.2940A>C (p.Thr980=) c.114A>C (p.Thr38=) c.957A>C (p.Thr319=) c.1016A>C c.2148A>C (p.Thr716=) c.3276A>C (p.Thr1092=) c.191A>C c.3456A>C (p.Thr1152=) c.3123A>C (p.Thr1041=) | |
7 | g.117611807A>G | CA457230118 | CFTR | c.3366A>G (p.Thr1122=) c.*3080A>G (n.*3080A>G) c.3183A>G (p.Thr1061=) c.*1666A>G (n.*1666A>G) c.*3190A>G (n.*3190A>G) c.2940A>G (p.Thr980=) c.114A>G (p.Thr38=) c.957A>G (p.Thr319=) c.1016A>G c.2148A>G (p.Thr716=) c.3276A>G (p.Thr1092=) c.191A>G c.3456A>G (p.Thr1152=) c.3123A>G (p.Thr1041=) | |
7 | g.117611807A>T | CA457230119 | CFTR | c.3366A>T (p.Thr1122=) c.*3080A>T (n.*3080A>T) c.3183A>T (p.Thr1061=) c.*1666A>T (n.*1666A>T) c.*3190A>T (n.*3190A>T) c.2940A>T (p.Thr980=) c.114A>T (p.Thr38=) c.957A>T (p.Thr319=) c.1016A>T c.2148A>T (p.Thr716=) c.3276A>T (p.Thr1092=) c.191A>T c.3456A>T (p.Thr1152=) c.3123A>T (p.Thr1041=) | |
7 | g.117611807dup | CA2684588445 | CFTR | c.3366dup (p.Gly1123ArgfsTer?) c.*3080dup (n.*3080dup) c.3183dup (p.Gly1062ArgfsTer?) c.*1666dup (n.*1666dup) c.*3190dup (n.*3190dup) c.2940dup (p.Gly981ArgfsTer?) c.114dup (p.Gly39ArgfsTer?) c.957dup (p.Gly320ArgfsTer?) c.1016dup c.2148dup (p.Gly717ArgfsTer?) c.3276dup (p.Gly1093ArgfsTer?) c.191dup c.3456dup (p.Gly1153ArgfsTer?) c.3123dup (p.Gly1042ArgfsTer?) | gnomAD v4 |
7 | g.117611808G>A | CA368992635 | CFTR | c.3367G>A (p.Gly1123Arg) c.*3081G>A (n.*3081G>A) c.3184G>A (p.Gly1062Arg) c.*1667G>A (n.*1667G>A) c.*3191G>A (n.*3191G>A) c.2941G>A (p.Gly981Arg) c.115G>A (p.Gly39Arg) c.958G>A (p.Gly320Arg) c.1017G>A c.2149G>A (p.Gly717Arg) c.3277G>A (p.Gly1093Arg) c.192G>A c.3457G>A (p.Gly1153Arg) c.3124G>A (p.Gly1042Arg) | |
7 | g.117611808G>C | CA327157 | CFTR | c.3367G>C (p.Gly1123Arg) c.*3081G>C (n.*3081G>C) c.3184G>C (p.Gly1062Arg) c.*1667G>C (n.*1667G>C) c.*3191G>C (n.*3191G>C) c.2941G>C (p.Gly981Arg) c.115G>C (p.Gly39Arg) c.958G>C (p.Gly320Arg) c.1017G>C c.2149G>C (p.Gly717Arg) c.3277G>C (p.Gly1093Arg) c.192G>C c.3457G>C (p.Gly1153Arg) c.3124G>C (p.Gly1042Arg) | ClinVar dbSNP gnomAD v4 |
7 | g.117611808G= | CA1737387814 | CFTR | c.3367G= (p.Gly1123=) c.*3081G= (n.*3081G=) c.3184G= (p.Gly1062=) c.*1667G= (n.*1667G=) c.*3191G= (n.*3191G=) c.2941G= (p.Gly981=) c.115G= (p.Gly39=) c.958G= (p.Gly320=) c.1017G= c.2149G= (p.Gly717=) c.3277G= (p.Gly1093=) c.192G= c.3457G= (p.Gly1153=) c.3124G= (p.Gly1042=) | |
7 | g.117611808G>T | CA368992636 | CFTR | c.3367G>T (p.Gly1123Ter) c.*3081G>T (n.*3081G>T) c.3184G>T (p.Gly1062Ter) c.*1667G>T (n.*1667G>T) c.*3191G>T (n.*3191G>T) c.2941G>T (p.Gly981Ter) c.115G>T (p.Gly39Ter) c.958G>T (p.Gly320Ter) c.1017G>T c.2149G>T (p.Gly717Ter) c.3277G>T (p.Gly1093Ter) c.192G>T c.3457G>T (p.Gly1153Ter) c.3124G>T (p.Gly1042Ter) | |
7 | g.117611809G>A | CA368992637 | CFTR | c.3367+1G>A (n.3367+1G>A) c.*3081+1G>A (n.*3081+1G>A) c.3184+1G>A (n.3184+1G>A) c.*1667+1G>A (n.*1667+1G>A) c.*3191+1G>A (n.*3191+1G>A) c.2941+1G>A (n.2941+1G>A) c.115+1G>A (n.115+1G>A) c.958+1G>A (n.958+1G>A) c.1017+1G>A c.2149+1G>A (n.2149+1G>A) c.3277+1G>A (n.3277+1G>A) c.192+1G>A c.3457+1G>A (n.3457+1G>A) c.3124+1G>A (n.3124+1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
7 | g.117611809G>C | CA368992639 | CFTR | c.3367+1G>C (n.3367+1G>C) c.*3081+1G>C (n.*3081+1G>C) c.3184+1G>C (n.3184+1G>C) c.*1667+1G>C (n.*1667+1G>C) c.*3191+1G>C (n.*3191+1G>C) c.2941+1G>C (n.2941+1G>C) c.115+1G>C (n.115+1G>C) c.958+1G>C (n.958+1G>C) c.1017+1G>C c.2149+1G>C (n.2149+1G>C) c.3277+1G>C (n.3277+1G>C) c.192+1G>C c.3457+1G>C (n.3457+1G>C) c.3124+1G>C (n.3124+1G>C) | |
7 | g.117611809G= | CA1737387820 | CFTR | c.3367+1G= (n.3367+1G=) c.*3081+1G= (n.*3081+1G=) c.3184+1G= (n.3184+1G=) c.*1667+1G= (n.*1667+1G=) c.*3191+1G= (n.*3191+1G=) c.2941+1G= (n.2941+1G=) c.115+1G= (n.115+1G=) c.958+1G= (n.958+1G=) c.1017+1G= c.2149+1G= (n.2149+1G=) c.3277+1G= (n.3277+1G=) c.192+1G= c.3457+1G= (n.3457+1G=) c.3124+1G= (n.3124+1G=) | |
7 | g.117611809G>T | CA368992638 | CFTR | c.3367+1G>T (n.3367+1G>T) c.*3081+1G>T (n.*3081+1G>T) c.3184+1G>T (n.3184+1G>T) c.*1667+1G>T (n.*1667+1G>T) c.*3191+1G>T (n.*3191+1G>T) c.2941+1G>T (n.2941+1G>T) c.115+1G>T (n.115+1G>T) c.958+1G>T (n.958+1G>T) c.1017+1G>T c.2149+1G>T (n.2149+1G>T) c.3277+1G>T (n.3277+1G>T) c.192+1G>T c.3457+1G>T (n.3457+1G>T) c.3124+1G>T (n.3124+1G>T) | ClinVar gnomAD v4 |
7 | g.117611810T>A | CA368992640 | CFTR | c.3367+2T>A (n.3367+2T>A) c.*3081+2T>A (n.*3081+2T>A) c.3184+2T>A (n.3184+2T>A) c.*1667+2T>A (n.*1667+2T>A) c.*3191+2T>A (n.*3191+2T>A) c.2941+2T>A (n.2941+2T>A) c.115+2T>A (n.115+2T>A) c.958+2T>A (n.958+2T>A) c.1017+2T>A c.2149+2T>A (n.2149+2T>A) c.3277+2T>A (n.3277+2T>A) c.192+2T>A c.3457+2T>A (n.3457+2T>A) c.3124+2T>A (n.3124+2T>A) | ClinVar dbSNP |
7 | g.117611810T>C | CA327155 | CFTR | c.3367+2T>C (n.3367+2T>C) c.*3081+2T>C (n.*3081+2T>C) c.3184+2T>C (n.3184+2T>C) c.*1667+2T>C (n.*1667+2T>C) c.*3191+2T>C (n.*3191+2T>C) c.2941+2T>C (n.2941+2T>C) c.115+2T>C (n.115+2T>C) c.958+2T>C (n.958+2T>C) c.1017+2T>C c.2149+2T>C (n.2149+2T>C) c.3277+2T>C (n.3277+2T>C) c.192+2T>C c.3457+2T>C (n.3457+2T>C) c.3124+2T>C (n.3124+2T>C) | dbSNP |
7 | g.117611810T>G | CA368992641 | CFTR | c.3367+2T>G (n.3367+2T>G) c.*3081+2T>G (n.*3081+2T>G) c.3184+2T>G (n.3184+2T>G) c.*1667+2T>G (n.*1667+2T>G) c.*3191+2T>G (n.*3191+2T>G) c.2941+2T>G (n.2941+2T>G) c.115+2T>G (n.115+2T>G) c.958+2T>G (n.958+2T>G) c.1017+2T>G c.2149+2T>G (n.2149+2T>G) c.3277+2T>G (n.3277+2T>G) c.192+2T>G c.3457+2T>G (n.3457+2T>G) c.3124+2T>G (n.3124+2T>G) | |
7 | g.117611810T= | CA1737387828 | CFTR | c.3367+2T= (n.3367+2T=) c.*3081+2T= (n.*3081+2T=) c.3184+2T= (n.3184+2T=) c.*1667+2T= (n.*1667+2T=) c.*3191+2T= (n.*3191+2T=) c.2941+2T= (n.2941+2T=) c.115+2T= (n.115+2T=) c.958+2T= (n.958+2T=) c.1017+2T= c.2149+2T= (n.2149+2T=) c.3277+2T= (n.3277+2T=) c.192+2T= c.3457+2T= (n.3457+2T=) c.3124+2T= (n.3124+2T=) | |
7 | g.117611811A= | CA1737387841 | CFTR | c.3367+3A= (n.3367+3A=) c.*3081+3A= (n.*3081+3A=) c.3184+3A= (n.3184+3A=) c.*1667+3A= (n.*1667+3A=) c.*3191+3A= (n.*3191+3A=) c.2941+3A= (n.2941+3A=) c.115+3A= (n.115+3A=) c.958+3A= (n.958+3A=) c.1017+3A= c.2149+3A= (n.2149+3A=) c.3277+3A= (n.3277+3A=) c.192+3A= c.3457+3A= (n.3457+3A=) c.3124+3A= (n.3124+3A=) | |
7 | g.117611811A>C | CA577222638 | CFTR | c.3367+3A>C (n.3367+3A>C) c.*3081+3A>C (n.*3081+3A>C) c.3184+3A>C (n.3184+3A>C) c.*1667+3A>C (n.*1667+3A>C) c.*3191+3A>C (n.*3191+3A>C) c.2941+3A>C (n.2941+3A>C) c.115+3A>C (n.115+3A>C) c.958+3A>C (n.958+3A>C) c.1017+3A>C c.2149+3A>C (n.2149+3A>C) c.3277+3A>C (n.3277+3A>C) c.192+3A>C c.3457+3A>C (n.3457+3A>C) c.3124+3A>C (n.3124+3A>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117611811A>G | CA658822510 | CFTR | c.3367+3A>G (n.3367+3A>G) c.*3081+3A>G (n.*3081+3A>G) c.3184+3A>G (n.3184+3A>G) c.*1667+3A>G (n.*1667+3A>G) c.*3191+3A>G (n.*3191+3A>G) c.2941+3A>G (n.2941+3A>G) c.115+3A>G (n.115+3A>G) c.958+3A>G (n.958+3A>G) c.1017+3A>G c.2149+3A>G (n.2149+3A>G) c.3277+3A>G (n.3277+3A>G) c.192+3A>G c.3457+3A>G (n.3457+3A>G) c.3124+3A>G (n.3124+3A>G) | ClinVar dbSNP gnomAD v4 |
7 | g.117611812C>G | CA2684588446 | CFTR | c.3367+4C>G (n.3367+4C>G) c.*3081+4C>G (n.*3081+4C>G) c.3184+4C>G (n.3184+4C>G) c.*1667+4C>G (n.*1667+4C>G) c.*3191+4C>G (n.*3191+4C>G) c.2941+4C>G (n.2941+4C>G) c.115+4C>G (n.115+4C>G) c.958+4C>G (n.958+4C>G) c.1017+4C>G c.2149+4C>G (n.2149+4C>G) c.3277+4C>G (n.3277+4C>G) c.192+4C>G c.3457+4C>G (n.3457+4C>G) c.3124+4C>G (n.3124+4C>G) | gnomAD v4 |
7 | g.117611813T>A | CA577222639 | CFTR | c.3367+5T>A (n.3367+5T>A) c.*3081+5T>A (n.*3081+5T>A) c.3184+5T>A (n.3184+5T>A) c.*1667+5T>A (n.*1667+5T>A) c.*3191+5T>A (n.*3191+5T>A) c.2941+5T>A (n.2941+5T>A) c.115+5T>A (n.115+5T>A) c.958+5T>A (n.958+5T>A) c.1017+5T>A c.2149+5T>A (n.2149+5T>A) c.3277+5T>A (n.3277+5T>A) c.192+5T>A c.3457+5T>A (n.3457+5T>A) c.3124+5T>A (n.3124+5T>A) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117611813T= | CA1737387849 | CFTR | c.3367+5T= (n.3367+5T=) c.*3081+5T= (n.*3081+5T=) c.3184+5T= (n.3184+5T=) c.*1667+5T= (n.*1667+5T=) c.*3191+5T= (n.*3191+5T=) c.2941+5T= (n.2941+5T=) c.115+5T= (n.115+5T=) c.958+5T= (n.958+5T=) c.1017+5T= c.2149+5T= (n.2149+5T=) c.3277+5T= (n.3277+5T=) c.192+5T= c.3457+5T= (n.3457+5T=) c.3124+5T= (n.3124+5T=) | |
7 | g.117611814A= | CA1737387855 | CFTR | c.3367+6A= (n.3367+6A=) c.*3081+6A= (n.*3081+6A=) c.3184+6A= (n.3184+6A=) c.*1667+6A= (n.*1667+6A=) c.*3191+6A= (n.*3191+6A=) c.2941+6A= (n.2941+6A=) c.115+6A= (n.115+6A=) c.958+6A= (n.958+6A=) c.1017+6A= c.2149+6A= (n.2149+6A=) c.3277+6A= (n.3277+6A=) c.192+6A= c.3457+6A= (n.3457+6A=) c.3124+6A= (n.3124+6A=) | |
7 | g.117611814A>G | CA327156 | CFTR | c.3367+6A>G (n.3367+6A>G) c.*3081+6A>G (n.*3081+6A>G) c.3184+6A>G (n.3184+6A>G) c.*1667+6A>G (n.*1667+6A>G) c.*3191+6A>G (n.*3191+6A>G) c.2941+6A>G (n.2941+6A>G) c.115+6A>G (n.115+6A>G) c.958+6A>G (n.958+6A>G) c.1017+6A>G c.2149+6A>G (n.2149+6A>G) c.3277+6A>G (n.3277+6A>G) c.192+6A>G c.3457+6A>G (n.3457+6A>G) c.3124+6A>G (n.3124+6A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611815T>C | CA577222640 | CFTR | c.3367+7T>C (n.3367+7T>C) c.*3081+7T>C (n.*3081+7T>C) c.3184+7T>C (n.3184+7T>C) c.*1667+7T>C (n.*1667+7T>C) c.*3191+7T>C (n.*3191+7T>C) c.2941+7T>C (n.2941+7T>C) c.115+7T>C (n.115+7T>C) c.958+7T>C (n.958+7T>C) c.1017+7T>C c.2149+7T>C (n.2149+7T>C) c.3277+7T>C (n.3277+7T>C) c.192+7T>C c.3457+7T>C (n.3457+7T>C) c.3124+7T>C (n.3124+7T>C) | dbSNP gnomAD v2 gnomAD v4 |
7 | g.117611815T>G | CA2695208439 | CFTR | c.3367+7T>G (n.3367+7T>G) c.*3081+7T>G (n.*3081+7T>G) c.3184+7T>G (n.3184+7T>G) c.*1667+7T>G (n.*1667+7T>G) c.*3191+7T>G (n.*3191+7T>G) c.2941+7T>G (n.2941+7T>G) c.115+7T>G (n.115+7T>G) c.958+7T>G (n.958+7T>G) c.1017+7T>G c.2149+7T>G (n.2149+7T>G) c.3277+7T>G (n.3277+7T>G) c.192+7T>G c.3457+7T>G (n.3457+7T>G) c.3124+7T>G (n.3124+7T>G) | ClinVar |
7 | g.117611815T= | CA1737387858 | CFTR | c.3367+7T= (n.3367+7T=) c.*3081+7T= (n.*3081+7T=) c.3184+7T= (n.3184+7T=) c.*1667+7T= (n.*1667+7T=) c.*3191+7T= (n.*3191+7T=) c.2941+7T= (n.2941+7T=) c.115+7T= (n.115+7T=) c.958+7T= (n.958+7T=) c.1017+7T= c.2149+7T= (n.2149+7T=) c.3277+7T= (n.3277+7T=) c.192+7T= c.3457+7T= (n.3457+7T=) c.3124+7T= (n.3124+7T=) | |
7 | g.117611816G>A | CA2499218691 | CFTR | c.3367+8G>A (n.3367+8G>A) c.*3081+8G>A (n.*3081+8G>A) c.3184+8G>A (n.3184+8G>A) c.*1667+8G>A (n.*1667+8G>A) c.*3191+8G>A (n.*3191+8G>A) c.2941+8G>A (n.2941+8G>A) c.115+8G>A (n.115+8G>A) c.958+8G>A (n.958+8G>A) c.1017+8G>A c.2149+8G>A (n.2149+8G>A) c.3277+8G>A (n.3277+8G>A) c.192+8G>A c.3457+8G>A (n.3457+8G>A) c.3124+8G>A (n.3124+8G>A) | ClinVar dbSNP |
7 | g.117611816G>T | CA2684588447 | CFTR | c.3367+8G>T (n.3367+8G>T) c.*3081+8G>T (n.*3081+8G>T) c.3184+8G>T (n.3184+8G>T) c.*1667+8G>T (n.*1667+8G>T) c.*3191+8G>T (n.*3191+8G>T) c.2941+8G>T (n.2941+8G>T) c.115+8G>T (n.115+8G>T) c.958+8G>T (n.958+8G>T) c.1017+8G>T c.2149+8G>T (n.2149+8G>T) c.3277+8G>T (n.3277+8G>T) c.192+8G>T c.3457+8G>T (n.3457+8G>T) c.3124+8G>T (n.3124+8G>T) | gnomAD v4 |
7 | g.117611817A>G | CA2697557586 | CFTR | c.3367+9A>G (n.3367+9A>G) c.*3081+9A>G (n.*3081+9A>G) c.3184+9A>G (n.3184+9A>G) c.*1667+9A>G (n.*1667+9A>G) c.*3191+9A>G (n.*3191+9A>G) c.2941+9A>G (n.2941+9A>G) c.115+9A>G (n.115+9A>G) c.958+9A>G (n.958+9A>G) c.1017+9A>G c.2149+9A>G (n.2149+9A>G) c.3277+9A>G (n.3277+9A>G) c.192+9A>G c.3457+9A>G (n.3457+9A>G) c.3124+9A>G (n.3124+9A>G) | ClinVar |
7 | g.117611818A>G | CA2684588448 | CFTR | c.3367+10A>G (n.3367+10A>G) c.*3081+10A>G (n.*3081+10A>G) c.3184+10A>G (n.3184+10A>G) c.*1667+10A>G (n.*1667+10A>G) c.*3191+10A>G (n.*3191+10A>G) c.2941+10A>G (n.2941+10A>G) c.115+10A>G (n.115+10A>G) c.958+10A>G (n.958+10A>G) c.1017+10A>G c.2149+10A>G (n.2149+10A>G) c.3277+10A>G (n.3277+10A>G) c.192+10A>G c.3457+10A>G (n.3457+10A>G) c.3124+10A>G (n.3124+10A>G) | ClinVar gnomAD v4 |
7 | g.117611818A>T | CA2499218692 | CFTR | c.3367+10A>T (n.3367+10A>T) c.*3081+10A>T (n.*3081+10A>T) c.3184+10A>T (n.3184+10A>T) c.*1667+10A>T (n.*1667+10A>T) c.*3191+10A>T (n.*3191+10A>T) c.2941+10A>T (n.2941+10A>T) c.115+10A>T (n.115+10A>T) c.958+10A>T (n.958+10A>T) c.1017+10A>T c.2149+10A>T (n.2149+10A>T) c.3277+10A>T (n.3277+10A>T) c.192+10A>T c.3457+10A>T (n.3457+10A>T) c.3124+10A>T (n.3124+10A>T) | ClinVar dbSNP |
7 | g.117611819C>A | CA2684588449 | CFTR | c.3367+11C>A (n.3367+11C>A) c.*3081+11C>A (n.*3081+11C>A) c.3184+11C>A (n.3184+11C>A) c.*1667+11C>A (n.*1667+11C>A) c.*3191+11C>A (n.*3191+11C>A) c.2941+11C>A (n.2941+11C>A) c.115+11C>A (n.115+11C>A) c.958+11C>A (n.958+11C>A) c.1017+11C>A c.2149+11C>A (n.2149+11C>A) c.3277+11C>A (n.3277+11C>A) c.192+11C>A c.3457+11C>A (n.3457+11C>A) c.3124+11C>A (n.3124+11C>A) | gnomAD v4 |
7 | g.117611821C>T | CA2777588354 | CFTR | c.3367+13C>T (n.3367+13C>T) c.*3081+13C>T (n.*3081+13C>T) c.3184+13C>T (n.3184+13C>T) c.*1667+13C>T (n.*1667+13C>T) c.*3191+13C>T (n.*3191+13C>T) c.2941+13C>T (n.2941+13C>T) c.115+13C>T (n.115+13C>T) c.958+13C>T (n.958+13C>T) c.1017+13C>T c.2149+13C>T (n.2149+13C>T) c.3277+13C>T (n.3277+13C>T) c.192+13C>T c.3457+13C>T (n.3457+13C>T) c.3124+13C>T (n.3124+13C>T) | |
7 | g.117611822A>G | CA2684588450 | CFTR | c.3367+14A>G (n.3367+14A>G) c.*3081+14A>G (n.*3081+14A>G) c.3184+14A>G (n.3184+14A>G) c.*1667+14A>G (n.*1667+14A>G) c.*3191+14A>G (n.*3191+14A>G) c.2941+14A>G (n.2941+14A>G) c.115+14A>G (n.115+14A>G) c.958+14A>G (n.958+14A>G) c.1017+14A>G c.2149+14A>G (n.2149+14A>G) c.3277+14A>G (n.3277+14A>G) c.192+14A>G c.3457+14A>G (n.3457+14A>G) c.3124+14A>G (n.3124+14A>G) | gnomAD v4 |
7 | g.117611823_117611825del | CA2579000273 | CFTR | c.3367+15_3367+17del (n.3367+15_3367+17del) c.*3081+15_*3081+17del (n.*3081+15_*3081+17del) c.3184+15_3184+17del (n.3184+15_3184+17del) c.*1667+15_*1667+17del (n.*1667+15_*1667+17del) c.*3191+15_*3191+17del (n.*3191+15_*3191+17del) c.2941+15_2941+17del (n.2941+15_2941+17del) c.115+15_115+17del (n.115+15_115+17del) c.958+15_958+17del (n.958+15_958+17del) c.1017+15_1017+17del c.2149+15_2149+17del (n.2149+15_2149+17del) c.3277+15_3277+17del (n.3277+15_3277+17del) c.192+15_192+17del c.3457+15_3457+17del (n.3457+15_3457+17del) c.3124+15_3124+17del (n.3124+15_3124+17del) | |
7 | g.117611823T>C | CA577222641 | CFTR | c.3367+15T>C (n.3367+15T>C) c.*3081+15T>C (n.*3081+15T>C) c.3184+15T>C (n.3184+15T>C) c.*1667+15T>C (n.*1667+15T>C) c.*3191+15T>C (n.*3191+15T>C) c.2941+15T>C (n.2941+15T>C) c.115+15T>C (n.115+15T>C) c.958+15T>C (n.958+15T>C) c.1017+15T>C c.2149+15T>C (n.2149+15T>C) c.3277+15T>C (n.3277+15T>C) c.192+15T>C c.3457+15T>C (n.3457+15T>C) c.3124+15T>C (n.3124+15T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611823T= | CA1737387860 | CFTR | c.3367+15T= (n.3367+15T=) c.*3081+15T= (n.*3081+15T=) c.3184+15T= (n.3184+15T=) c.*1667+15T= (n.*1667+15T=) c.*3191+15T= (n.*3191+15T=) c.2941+15T= (n.2941+15T=) c.115+15T= (n.115+15T=) c.958+15T= (n.958+15T=) c.1017+15T= c.2149+15T= (n.2149+15T=) c.3277+15T= (n.3277+15T=) c.192+15T= c.3457+15T= (n.3457+15T=) c.3124+15T= (n.3124+15T=) | |
7 | g.117611826_117611831del | CA2739279039 | CFTR | c.3367+18_3367+23del (n.3367+18_3367+23del) c.*3081+18_*3081+23del (n.*3081+18_*3081+23del) c.3184+18_3184+23del (n.3184+18_3184+23del) c.*1667+18_*1667+23del (n.*1667+18_*1667+23del) c.*3191+18_*3191+23del (n.*3191+18_*3191+23del) c.2941+18_2941+23del (n.2941+18_2941+23del) c.115+18_115+23del (n.115+18_115+23del) c.958+18_958+23del (n.958+18_958+23del) c.1017+18_1017+23del c.2149+18_2149+23del (n.2149+18_2149+23del) c.3277+18_3277+23del (n.3277+18_3277+23del) c.192+18_192+23del c.3457+18_3457+23del (n.3457+18_3457+23del) c.3124+18_3124+23del (n.3124+18_3124+23del) | ClinVar |
7 | g.117611825A= | CA1737387870 | CFTR | c.3367+17A= (n.3367+17A=) c.*3081+17A= (n.*3081+17A=) c.3184+17A= (n.3184+17A=) c.*1667+17A= (n.*1667+17A=) c.*3191+17A= (n.*3191+17A=) c.2941+17A= (n.2941+17A=) c.115+17A= (n.115+17A=) c.958+17A= (n.958+17A=) c.1017+17A= c.2149+17A= (n.2149+17A=) c.3277+17A= (n.3277+17A=) c.192+17A= c.3457+17A= (n.3457+17A=) c.3124+17A= (n.3124+17A=) | |
7 | g.117611825A>G | CA1106311997 | CFTR | c.3367+17A>G (n.3367+17A>G) c.*3081+17A>G (n.*3081+17A>G) c.3184+17A>G (n.3184+17A>G) c.*1667+17A>G (n.*1667+17A>G) c.*3191+17A>G (n.*3191+17A>G) c.2941+17A>G (n.2941+17A>G) c.115+17A>G (n.115+17A>G) c.958+17A>G (n.958+17A>G) c.1017+17A>G c.2149+17A>G (n.2149+17A>G) c.3277+17A>G (n.3277+17A>G) c.192+17A>G c.3457+17A>G (n.3457+17A>G) c.3124+17A>G (n.3124+17A>G) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117611825A>T | CA2684588451 | CFTR | c.3367+17A>T (n.3367+17A>T) c.*3081+17A>T (n.*3081+17A>T) c.3184+17A>T (n.3184+17A>T) c.*1667+17A>T (n.*1667+17A>T) c.*3191+17A>T (n.*3191+17A>T) c.2941+17A>T (n.2941+17A>T) c.115+17A>T (n.115+17A>T) c.958+17A>T (n.958+17A>T) c.1017+17A>T c.2149+17A>T (n.2149+17A>T) c.3277+17A>T (n.3277+17A>T) c.192+17A>T c.3457+17A>T (n.3457+17A>T) c.3124+17A>T (n.3124+17A>T) | gnomAD v4 |
7 | g.117611826A= | CA1737387872 | CFTR | c.3367+18A= (n.3367+18A=) c.*3081+18A= (n.*3081+18A=) c.3184+18A= (n.3184+18A=) c.*1667+18A= (n.*1667+18A=) c.*3191+18A= (n.*3191+18A=) c.2941+18A= (n.2941+18A=) c.115+18A= (n.115+18A=) c.958+18A= (n.958+18A=) c.1017+18A= c.2149+18A= (n.2149+18A=) c.3277+18A= (n.3277+18A=) c.192+18A= c.3457+18A= (n.3457+18A=) c.3124+18A= (n.3124+18A=) | |
7 | g.117611826A>G | CA4451430 | CFTR | c.3367+18A>G (n.3367+18A>G) c.*3081+18A>G (n.*3081+18A>G) c.3184+18A>G (n.3184+18A>G) c.*1667+18A>G (n.*1667+18A>G) c.*3191+18A>G (n.*3191+18A>G) c.2941+18A>G (n.2941+18A>G) c.115+18A>G (n.115+18A>G) c.958+18A>G (n.958+18A>G) c.1017+18A>G c.2149+18A>G (n.2149+18A>G) c.3277+18A>G (n.3277+18A>G) c.192+18A>G c.3457+18A>G (n.3457+18A>G) c.3124+18A>G (n.3124+18A>G) | dbSNP ExAC |
7 | g.117611827C>A | CA2579000274 | CFTR | c.3367+19C>A (n.3367+19C>A) c.*3081+19C>A (n.*3081+19C>A) c.3184+19C>A (n.3184+19C>A) c.*1667+19C>A (n.*1667+19C>A) c.*3191+19C>A (n.*3191+19C>A) c.2941+19C>A (n.2941+19C>A) c.115+19C>A (n.115+19C>A) c.958+19C>A (n.958+19C>A) c.1017+19C>A c.2149+19C>A (n.2149+19C>A) c.3277+19C>A (n.3277+19C>A) c.192+19C>A c.3457+19C>A (n.3457+19C>A) c.3124+19C>A (n.3124+19C>A) | gnomAD v4 |
7 | g.117611827C>T | CA2739279040 | CFTR | c.3367+19C>T (n.3367+19C>T) c.*3081+19C>T (n.*3081+19C>T) c.3184+19C>T (n.3184+19C>T) c.*1667+19C>T (n.*1667+19C>T) c.*3191+19C>T (n.*3191+19C>T) c.2941+19C>T (n.2941+19C>T) c.115+19C>T (n.115+19C>T) c.958+19C>T (n.958+19C>T) c.1017+19C>T c.2149+19C>T (n.2149+19C>T) c.3277+19C>T (n.3277+19C>T) c.192+19C>T c.3457+19C>T (n.3457+19C>T) c.3124+19C>T (n.3124+19C>T) | ClinVar |
7 | g.117611828_117611829insGT | CA2579000275 | CFTR | c.3367+20_3367+21insGT (n.3367+20_3367+21insGT) c.*3081+20_*3081+21insGT (n.*3081+20_*3081+21insGT) c.3184+20_3184+21insGT (n.3184+20_3184+21insGT) c.*1667+20_*1667+21insGT (n.*1667+20_*1667+21insGT) c.*3191+20_*3191+21insGT (n.*3191+20_*3191+21insGT) c.2941+20_2941+21insGT (n.2941+20_2941+21insGT) c.115+20_115+21insGT (n.115+20_115+21insGT) c.958+20_958+21insGT (n.958+20_958+21insGT) c.1017+20_1017+21insGT c.2149+20_2149+21insGT (n.2149+20_2149+21insGT) c.3277+20_3277+21insGT (n.3277+20_3277+21insGT) c.192+20_192+21insGT c.3457+20_3457+21insGT (n.3457+20_3457+21insGT) c.3124+20_3124+21insGT (n.3124+20_3124+21insGT) | |
7 | g.117611830dup | CA2684588452 | CFTR | c.3367+22dup (n.3367+22dup) c.*3081+22dup (n.*3081+22dup) c.3184+22dup (n.3184+22dup) c.*1667+22dup (n.*1667+22dup) c.*3191+22dup (n.*3191+22dup) c.2941+22dup (n.2941+22dup) c.115+22dup (n.115+22dup) c.958+22dup (n.958+22dup) c.1017+22dup c.2149+22dup (n.2149+22dup) c.3277+22dup (n.3277+22dup) c.192+22dup c.3457+22dup (n.3457+22dup) c.3124+22dup (n.3124+22dup) | gnomAD v4 |
7 | g.117611829_117611833delinsTTAGC | CA1737387874 | CFTR | c.3367+21_3367+25delinsTTAGC (n.3367+21_3367+25delinsTTAGC) c.*3081+21_*3081+25delinsTTAGC (n.*3081+21_*3081+25delinsTTAGC) c.3184+21_3184+25delinsTTAGC (n.3184+21_3184+25delinsTTAGC) c.*1667+21_*1667+25delinsTTAGC (n.*1667+21_*1667+25delinsTTAGC) c.*3191+21_*3191+25delinsTTAGC (n.*3191+21_*3191+25delinsTTAGC) c.2941+21_2941+25delinsTTAGC (n.2941+21_2941+25delinsTTAGC) c.115+21_115+25delinsTTAGC (n.115+21_115+25delinsTTAGC) c.958+21_958+25delinsTTAGC (n.958+21_958+25delinsTTAGC) c.1017+21_1017+25delinsTTAGC c.2149+21_2149+25delinsTTAGC (n.2149+21_2149+25delinsTTAGC) c.3277+21_3277+25delinsTTAGC (n.3277+21_3277+25delinsTTAGC) c.192+21_192+25delinsTTAGC c.3457+21_3457+25delinsTTAGC (n.3457+21_3457+25delinsTTAGC) c.3124+21_3124+25delinsTTAGC (n.3124+21_3124+25delinsTTAGC) | |
7 | g.117611830T>C | CA4451431 | CFTR | c.3367+22T>C (n.3367+22T>C) c.*3081+22T>C (n.*3081+22T>C) c.3184+22T>C (n.3184+22T>C) c.*1667+22T>C (n.*1667+22T>C) c.*3191+22T>C (n.*3191+22T>C) c.2941+22T>C (n.2941+22T>C) c.115+22T>C (n.115+22T>C) c.958+22T>C (n.958+22T>C) c.1017+22T>C c.2149+22T>C (n.2149+22T>C) c.3277+22T>C (n.3277+22T>C) c.192+22T>C c.3457+22T>C (n.3457+22T>C) c.3124+22T>C (n.3124+22T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
7 | g.117611830T= | CA1737387878 | CFTR | c.3367+22T= (n.3367+22T=) c.*3081+22T= (n.*3081+22T=) c.3184+22T= (n.3184+22T=) c.*1667+22T= (n.*1667+22T=) c.*3191+22T= (n.*3191+22T=) c.2941+22T= (n.2941+22T=) c.115+22T= (n.115+22T=) c.958+22T= (n.958+22T=) c.1017+22T= c.2149+22T= (n.2149+22T=) c.3277+22T= (n.3277+22T=) c.192+22T= c.3457+22T= (n.3457+22T=) c.3124+22T= (n.3124+22T=) | |
7 | g.117611832_117611835del | CA832119715 | CFTR | c.3367+24_3367+27del (n.3367+24_3367+27del) c.*3081+24_*3081+27del (n.*3081+24_*3081+27del) c.3184+24_3184+27del (n.3184+24_3184+27del) c.*1667+24_*1667+27del (n.*1667+24_*1667+27del) c.*3191+24_*3191+27del (n.*3191+24_*3191+27del) c.2941+24_2941+27del (n.2941+24_2941+27del) c.115+24_115+27del (n.115+24_115+27del) c.958+24_958+27del (n.958+24_958+27del) c.1017+24_1017+27del c.2149+24_2149+27del (n.2149+24_2149+27del) c.3277+24_3277+27del (n.3277+24_3277+27del) c.192+24_192+27del c.3457+24_3457+27del (n.3457+24_3457+27del) c.3124+24_3124+27del (n.3124+24_3124+27del) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.117611831A>G | CA2684588453 | CFTR | c.3367+23A>G (n.3367+23A>G) c.*3081+23A>G (n.*3081+23A>G) c.3184+23A>G (n.3184+23A>G) c.*1667+23A>G (n.*1667+23A>G) c.*3191+23A>G (n.*3191+23A>G) c.2941+23A>G (n.2941+23A>G) c.115+23A>G (n.115+23A>G) c.958+23A>G (n.958+23A>G) c.1017+23A>G c.2149+23A>G (n.2149+23A>G) c.3277+23A>G (n.3277+23A>G) c.192+23A>G c.3457+23A>G (n.3457+23A>G) c.3124+23A>G (n.3124+23A>G) | gnomAD v4 |
7 | g.117611832G>A | CA4451432 | CFTR | c.3367+24G>A (n.3367+24G>A) c.*3081+24G>A (n.*3081+24G>A) c.3184+24G>A (n.3184+24G>A) c.*1667+24G>A (n.*1667+24G>A) c.*3191+24G>A (n.*3191+24G>A) c.2941+24G>A (n.2941+24G>A) c.115+24G>A (n.115+24G>A) c.958+24G>A (n.958+24G>A) c.1017+24G>A c.2149+24G>A (n.2149+24G>A) c.3277+24G>A (n.3277+24G>A) c.192+24G>A c.3457+24G>A (n.3457+24G>A) c.3124+24G>A (n.3124+24G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.117611832G= | CA1737387884 | CFTR | c.3367+24G= (n.3367+24G=) c.*3081+24G= (n.*3081+24G=) c.3184+24G= (n.3184+24G=) c.*1667+24G= (n.*1667+24G=) c.*3191+24G= (n.*3191+24G=) c.2941+24G= (n.2941+24G=) c.115+24G= (n.115+24G=) c.958+24G= (n.958+24G=) c.1017+24G= c.2149+24G= (n.2149+24G=) c.3277+24G= (n.3277+24G=) c.192+24G= c.3457+24G= (n.3457+24G=) c.3124+24G= (n.3124+24G=) | |
7 | g.117611833C>A | CA1737387888 | CFTR | c.3367+25C>A (n.3367+25C>A) c.*3081+25C>A (n.*3081+25C>A) c.3184+25C>A (n.3184+25C>A) c.*1667+25C>A (n.*1667+25C>A) c.*3191+25C>A (n.*3191+25C>A) c.2941+25C>A (n.2941+25C>A) c.115+25C>A (n.115+25C>A) c.958+25C>A (n.958+25C>A) c.1017+25C>A c.2149+25C>A (n.2149+25C>A) c.3277+25C>A (n.3277+25C>A) c.192+25C>A c.3457+25C>A (n.3457+25C>A) c.3124+25C>A (n.3124+25C>A) | dbSNP gnomAD v4 |
7 | g.117611833C= | CA1737387886 | CFTR | c.3367+25C= (n.3367+25C=) c.*3081+25C= (n.*3081+25C=) c.3184+25C= (n.3184+25C=) c.*1667+25C= (n.*1667+25C=) c.*3191+25C= (n.*3191+25C=) c.2941+25C= (n.2941+25C=) c.115+25C= (n.115+25C=) c.958+25C= (n.958+25C=) c.1017+25C= c.2149+25C= (n.2149+25C=) c.3277+25C= (n.3277+25C=) c.192+25C= c.3457+25C= (n.3457+25C=) c.3124+25C= (n.3124+25C=) | |
7 | g.117611835A>G | CA2777588358 | CFTR | c.3367+27A>G (n.3367+27A>G) c.*3081+27A>G (n.*3081+27A>G) c.3184+27A>G (n.3184+27A>G) c.*1667+27A>G (n.*1667+27A>G) c.*3191+27A>G (n.*3191+27A>G) c.2941+27A>G (n.2941+27A>G) c.115+27A>G (n.115+27A>G) c.958+27A>G (n.958+27A>G) c.1017+27A>G c.2149+27A>G (n.2149+27A>G) c.3277+27A>G (n.3277+27A>G) c.192+27A>G c.3457+27A>G (n.3457+27A>G) c.3124+27A>G (n.3124+27A>G) |