| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117602152_117612006del | CA325806 | CFTR | c.2620-674_3367+198del c.*2334-674_*3081+198del c.2437-674_3184+198del c.*920-674_*1667+198del c.*2444-674_*3191+198del c.2194-674_2941+198del c.211-674_958+198del c.270-674_1017+198del c.1402-674_2149+198del c.2530-674_3277+198del c.2710-674_3457+198del c.2377-674_3124+198del | |
| 7 | g.117602152_117612040del | CA2499218685 | CFTR | c.2620-674_3367+232del c.*2334-674_*3081+232del c.2437-674_3184+232del c.*920-674_*1667+232del c.*2444-674_*3191+232del c.2194-674_2941+232del c.211-674_958+232del c.270-674_1017+232del c.1402-674_2149+232del c.2530-674_3277+232del c.2710-674_3457+232del c.2377-674_3124+232del | ClinVar |
| 7 | g.117604867_117612068del | CA913190213 | CFTR | c.2908+1085_3367+260del c.*2622+1085_*3081+260del c.2725+1085_3184+260del c.*1208+1085_*1667+260del c.*2732+1085_*3191+260del c.2482+1085_2941+260del c.499+1085_958+260del c.558+1085_1017+260del c.1690+1085_2149+260del c.2818+1085_3277+260del c.2998+1085_3457+260del c.2665+1085_3124+260del | ClinVar |
| 7 | g.117606038_117613002delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG | CA2580076402 | CFTR | c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.*2623-636_*3081+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2726-636_3184+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.*1209-636_*1667+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.*2733-636_*3191+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2483-636_2941+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.500-636_958+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.559-636_1017+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.1691-636_2149+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2819-636_3277+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2999-636_3457+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG c.2666-636_3124+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG | ClinVar |
| 7 | g.117606676_117611810del | CA913190200 | CFTR | c.2911_3367+2del c.*2625_*3081+2del c.2728_3184+2del c.*1211_*1667+2del c.*2735_*3191+2del c.2485_2941+2del c.502_958+2del c.561_1017+2del c.1693_2149+2del c.2821_3277+2del c.3001_3457+2del c.2668_3124+2del | ClinVar |
| 7 | g.117607926_117616824del | CA1139532136 | CFTR | c.2988+1173_3468+2111del c.*2702+1173_*3182+2111del c.2805+1173_3285+2111del c.*1288+1173_*1843+2111del c.2988+1173_3462+2111del c.*2812+1173_*3292+2111del c.2562+1173_3042+2111del c.579+1173_1059+2111del c.638+1173_1118+2111del c.1770+1173_2250+2111del c.2898+1173_3378+2111del c.3078+1173_3558+2111del c.2745+1173_3225+2111del | |
| 7 | g.117608369_117612164delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC | CA2580076408 | CFTR | c.2988+1616_3367+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.*2702+1616_*3081+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.2805+1616_3184+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.*1288+1616_*1667+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.*2812+1616_*3191+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.2562+1616_2941+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.579+1616_958+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.638+1616_1017+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.1770+1616_2149+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.2898+1616_3277+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.3078+1616_3457+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC c.2745+1616_3124+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC | ClinVar |
| 7 | g.117609542_117612056del | CA325807 | CFTR | c.2989-977_3367+248del c.*2703-977_*3081+248del c.2806-977_3184+248del c.*1289-977_*1667+248del c.*2813-977_*3191+248del c.2563-977_2941+248del c.580-977_958+248del c.639-977_1017+248del c.1771-977_2149+248del c.2899-977_3277+248del c.3079-977_3457+248del c.2746-977_3124+248del | ClinVar |
| 7 | g.117609611_117610615delinsGACAG | CA915945433 | CFTR | c.2989-908_3085delinsGACAG c.*2703-908_*2799delinsGACAG c.2806-908_2902delinsGACAG c.*1289-908_*1385delinsGACAG c.*2813-908_*2909delinsGACAG c.2563-908_2659delinsGACAG c.580-908_676delinsGACAG c.639-908_735delinsGACAG c.1771-908_1867delinsGACAG c.2899-908_2995delinsGACAG c.3079-908_3175delinsGACAG c.2746-908_2842delinsGACAG | ClinVar |
| 7 | g.117610519_117611808del | CA913189830 | CFTR | c.2989_3367del c.*2703_*3081del c.2806_3184del c.*1289_*1667del c.*2813_*3191del c.2563_2941del c.580_958del c.639_1017del c.1771_2149del c.2899_3277del c.3079_3457del c.2746_3124del | ClinVar |
| 7 | g.117610516_117610667delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA | CA1737384620 | CFTR | c.2989-3_3137delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.*2703-3_*2851delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.2806-3_2954delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.*1289-3_*1437delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.*2813-3_*2961delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.2563-3_2711delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.580-3_728delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.639-3_787delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.1771-3_1919delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.2899-3_3047delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.3079-3_3227delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.2746-3_2894delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA | |
| 7 | g.117610519_117610669del | CA326999 | CFTR | c.2989_3139del c.*2703_*2853del c.2806_2956del c.*1289_*1439del c.*2813_*2963del c.2563_2713del c.580_730del c.639_789del c.1771_1921del c.2899_3049del c.3079_3229del c.2746_2896del | ClinVar dbSNP |
| 7 | g.117610519_117614713del | CA913189831 | CFTR | c.2989_3468del c.*2703_*3182del c.2806_3285del c.*1289_*1843del c.2989_3462del c.*2813_*3292del c.2563_3042del c.580_1059del c.639_1118del c.1771_2250del c.2899_3378del c.3079_3558del c.2746_3225del | ClinVar |
| 7 | g.117610554C>A | CA457229370 | CFTR | c.3024C>A (p.Val1008=) c.*2738C>A (n.*2738C>A) c.2841C>A (p.Val947=) c.*1324C>A (n.*1324C>A) c.*2848C>A (n.*2848C>A) c.2598C>A (p.Val866=) c.615C>A (p.Val205=) c.674C>A c.1806C>A (p.Val602=) c.2934C>A (p.Val978=) c.3114C>A (p.Val1038=) c.2781C>A (p.Val927=) | |
| 7 | g.117610554C= | CA1737384818 | CFTR | c.3024C= (p.Val1008=) c.*2738C= (n.*2738C=) c.2841C= (p.Val947=) c.*1324C= (n.*1324C=) c.*2848C= (n.*2848C=) c.2598C= (p.Val866=) c.615C= (p.Val205=) c.674C= c.1806C= (p.Val602=) c.2934C= (p.Val978=) c.3114C= (p.Val1038=) c.2781C= (p.Val927=) | |
| 7 | g.117610554C>G | CA457229371 | CFTR | c.3024C>G (p.Val1008=) c.*2738C>G (n.*2738C>G) c.2841C>G (p.Val947=) c.*1324C>G (n.*1324C>G) c.*2848C>G (n.*2848C>G) c.2598C>G (p.Val866=) c.615C>G (p.Val205=) c.674C>G c.1806C>G (p.Val602=) c.2934C>G (p.Val978=) c.3114C>G (p.Val1038=) c.2781C>G (p.Val927=) | |
| 7 | g.117610554C>T | CA241137 | CFTR | c.3024C>T (p.Val1008=) c.*2738C>T (n.*2738C>T) c.2841C>T (p.Val947=) c.*1324C>T (n.*1324C>T) c.*2848C>T (n.*2848C>T) c.2598C>T (p.Val866=) c.615C>T (p.Val205=) c.674C>T c.1806C>T (p.Val602=) c.2934C>T (p.Val978=) c.3114C>T (p.Val1038=) c.2781C>T (p.Val927=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117610555G>A | CA241139 | CFTR | c.3025G>A (p.Ala1009Thr) c.*2739G>A (n.*2739G>A) c.2842G>A (p.Ala948Thr) c.*1325G>A (n.*1325G>A) c.*2849G>A (n.*2849G>A) c.2599G>A (p.Ala867Thr) c.616G>A (p.Ala206Thr) c.675G>A c.1807G>A (p.Ala603Thr) c.2935G>A (p.Ala979Thr) c.3115G>A (p.Ala1039Thr) c.2782G>A (p.Ala928Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117610555G>C | CA368990476 | CFTR | c.3025G>C (p.Ala1009Pro) c.*2739G>C (n.*2739G>C) c.2842G>C (p.Ala948Pro) c.*1325G>C (n.*1325G>C) c.*2849G>C (n.*2849G>C) c.2599G>C (p.Ala867Pro) c.616G>C (p.Ala206Pro) c.675G>C c.1807G>C (p.Ala603Pro) c.2935G>C (p.Ala979Pro) c.3115G>C (p.Ala1039Pro) c.2782G>C (p.Ala928Pro) | |
| 7 | g.117610555G= | CA1737384823 | CFTR | c.3025G= (p.Ala1009=) c.*2739G= (n.*2739G=) c.2842G= (p.Ala948=) c.*1325G= (n.*1325G=) c.*2849G= (n.*2849G=) c.2599G= (p.Ala867=) c.616G= (p.Ala206=) c.675G= c.1807G= (p.Ala603=) c.2935G= (p.Ala979=) c.3115G= (p.Ala1039=) c.2782G= (p.Ala928=) | |
| 7 | g.117610555G>T | CA368990479 | CFTR | c.3025G>T (p.Ala1009Ser) c.*2739G>T (n.*2739G>T) c.2842G>T (p.Ala948Ser) c.*1325G>T (n.*1325G>T) c.*2849G>T (n.*2849G>T) c.2599G>T (p.Ala867Ser) c.616G>T (p.Ala206Ser) c.675G>T c.1807G>T (p.Ala603Ser) c.2935G>T (p.Ala979Ser) c.3115G>T (p.Ala1039Ser) c.2782G>T (p.Ala928Ser) | ClinVar dbSNP |
| 7 | g.117610556C>A | CA368990483 | CFTR | c.3026C>A (p.Ala1009Glu) c.*2740C>A (n.*2740C>A) c.2843C>A (p.Ala948Glu) c.*1326C>A (n.*1326C>A) c.*2850C>A (n.*2850C>A) c.2600C>A (p.Ala867Glu) c.617C>A (p.Ala206Glu) c.676C>A c.1808C>A (p.Ala603Glu) c.2936C>A (p.Ala979Glu) c.3116C>A (p.Ala1039Glu) c.2783C>A (p.Ala928Glu) | |
| 7 | g.117610556C= | CA1737384830 | CFTR | c.3026C= (p.Ala1009=) c.*2740C= (n.*2740C=) c.2843C= (p.Ala948=) c.*1326C= (n.*1326C=) c.*2850C= (n.*2850C=) c.2600C= (p.Ala867=) c.617C= (p.Ala206=) c.676C= c.1808C= (p.Ala603=) c.2936C= (p.Ala979=) c.3116C= (p.Ala1039=) c.2783C= (p.Ala928=) | |
| 7 | g.117610556C>G | CA368990485 | CFTR | c.3026C>G (p.Ala1009Gly) c.*2740C>G (n.*2740C>G) c.2843C>G (p.Ala948Gly) c.*1326C>G (n.*1326C>G) c.*2850C>G (n.*2850C>G) c.2600C>G (p.Ala867Gly) c.617C>G (p.Ala206Gly) c.676C>G c.1808C>G (p.Ala603Gly) c.2936C>G (p.Ala979Gly) c.3116C>G (p.Ala1039Gly) c.2783C>G (p.Ala928Gly) | |
| 7 | g.117610556C>T | CA4451365 | CFTR | c.3026C>T (p.Ala1009Val) c.*2740C>T (n.*2740C>T) c.2843C>T (p.Ala948Val) c.*1326C>T (n.*1326C>T) c.*2850C>T (n.*2850C>T) c.2600C>T (p.Ala867Val) c.617C>T (p.Ala206Val) c.676C>T c.1808C>T (p.Ala603Val) c.2936C>T (p.Ala979Val) c.3116C>T (p.Ala1039Val) c.2783C>T (p.Ala928Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117610557A= | CA1737384834 | CFTR | c.3027A= (p.Ala1009=) c.*2741A= (n.*2741A=) c.2844A= (p.Ala948=) c.*1327A= (n.*1327A=) c.*2851A= (n.*2851A=) c.2601A= (p.Ala867=) c.618A= (p.Ala206=) c.677A= c.1809A= (p.Ala603=) c.2937A= (p.Ala979=) c.3117A= (p.Ala1039=) c.2784A= (p.Ala928=) | |
| 7 | g.117610557A>C | CA457229372 | CFTR | c.3027A>C (p.Ala1009=) c.*2741A>C (n.*2741A>C) c.2844A>C (p.Ala948=) c.*1327A>C (n.*1327A>C) c.*2851A>C (n.*2851A>C) c.2601A>C (p.Ala867=) c.618A>C (p.Ala206=) c.677A>C c.1809A>C (p.Ala603=) c.2937A>C (p.Ala979=) c.3117A>C (p.Ala1039=) c.2784A>C (p.Ala928=) | |
| 7 | g.117610557A>G | CA457229373 | CFTR | c.3027A>G (p.Ala1009=) c.*2741A>G (n.*2741A>G) c.2844A>G (p.Ala948=) c.*1327A>G (n.*1327A>G) c.*2851A>G (n.*2851A>G) c.2601A>G (p.Ala867=) c.618A>G (p.Ala206=) c.677A>G c.1809A>G (p.Ala603=) c.2937A>G (p.Ala979=) c.3117A>G (p.Ala1039=) c.2784A>G (p.Ala928=) | ClinVar gnomAD v4 |
| 7 | g.117610557A>T | CA457229374 | CFTR | c.3027A>T (p.Ala1009=) c.*2741A>T (n.*2741A>T) c.2844A>T (p.Ala948=) c.*1327A>T (n.*1327A>T) c.*2851A>T (n.*2851A>T) c.2601A>T (p.Ala867=) c.618A>T (p.Ala206=) c.677A>T c.1809A>T (p.Ala603=) c.2937A>T (p.Ala979=) c.3117A>T (p.Ala1039=) c.2784A>T (p.Ala928=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117610558G>A | CA368990489 | CFTR | c.3028G>A (p.Val1010Ile) c.*2742G>A (n.*2742G>A) c.2845G>A (p.Val949Ile) c.*1328G>A (n.*1328G>A) c.*2852G>A (n.*2852G>A) c.2602G>A (p.Val868Ile) c.619G>A (p.Val207Ile) c.678G>A c.1810G>A (p.Val604Ile) c.2938G>A (p.Val980Ile) c.3118G>A (p.Val1040Ile) c.2785G>A (p.Val929Ile) | |
| 7 | g.117610558G>C | CA368990491 | CFTR | c.3028G>C (p.Val1010Leu) c.*2742G>C (n.*2742G>C) c.2845G>C (p.Val949Leu) c.*1328G>C (n.*1328G>C) c.*2852G>C (n.*2852G>C) c.2602G>C (p.Val868Leu) c.619G>C (p.Val207Leu) c.678G>C c.1810G>C (p.Val604Leu) c.2938G>C (p.Val980Leu) c.3118G>C (p.Val1040Leu) c.2785G>C (p.Val929Leu) | |
| 7 | g.117610558G>T | CA368990492 | CFTR | c.3028G>T (p.Val1010Phe) c.*2742G>T (n.*2742G>T) c.2845G>T (p.Val949Phe) c.*1328G>T (n.*1328G>T) c.*2852G>T (n.*2852G>T) c.2602G>T (p.Val868Phe) c.619G>T (p.Val207Phe) c.678G>T c.1810G>T (p.Val604Phe) c.2938G>T (p.Val980Phe) c.3118G>T (p.Val1040Phe) c.2785G>T (p.Val929Phe) | |
| 7 | g.117610559T>A | CA368990499 | CFTR | c.3029T>A (p.Val1010Asp) c.*2743T>A (n.*2743T>A) c.2846T>A (p.Val949Asp) c.*1329T>A (n.*1329T>A) c.*2853T>A (n.*2853T>A) c.2603T>A (p.Val868Asp) c.620T>A (p.Val207Asp) c.679T>A c.1811T>A (p.Val604Asp) c.2939T>A (p.Val980Asp) c.3119T>A (p.Val1040Asp) c.2786T>A (p.Val929Asp) | gnomAD v4 |
| 7 | g.117610559T>C | CA368990498 | CFTR | c.3029T>C (p.Val1010Ala) c.*2743T>C (n.*2743T>C) c.2846T>C (p.Val949Ala) c.*1329T>C (n.*1329T>C) c.*2853T>C (n.*2853T>C) c.2603T>C (p.Val868Ala) c.620T>C (p.Val207Ala) c.679T>C c.1811T>C (p.Val604Ala) c.2939T>C (p.Val980Ala) c.3119T>C (p.Val1040Ala) c.2786T>C (p.Val929Ala) | |
| 7 | g.117610559T>G | CA368990495 | CFTR | c.3029T>G (p.Val1010Gly) c.*2743T>G (n.*2743T>G) c.2846T>G (p.Val949Gly) c.*1329T>G (n.*1329T>G) c.*2853T>G (n.*2853T>G) c.2603T>G (p.Val868Gly) c.620T>G (p.Val207Gly) c.679T>G c.1811T>G (p.Val604Gly) c.2939T>G (p.Val980Gly) c.3119T>G (p.Val1040Gly) c.2786T>G (p.Val929Gly) | |
| 7 | g.117610562del | CA2695208429 | CFTR | c.3032del (p.Leu1011TyrfsTer12) c.*2746del (n.*2746del) c.2849del (p.Leu950TyrfsTer12) c.*1332del (n.*1332del) c.*2856del (n.*2856del) c.2606del (p.Leu869TyrfsTer12) c.623del (p.Leu208TyrfsTer12) c.682del c.1814del (p.Leu605TyrfsTer12) c.2942del (p.Leu981TyrfsTer12) c.3122del (p.Leu1041TyrfsTer12) c.2789del (p.Leu930TyrfsTer12) | |
| 7 | g.117610560T>A | CA457229375 | CFTR | c.3030T>A (p.Val1010=) c.*2744T>A (n.*2744T>A) c.2847T>A (p.Val949=) c.*1330T>A (n.*1330T>A) c.*2854T>A (n.*2854T>A) c.2604T>A (p.Val868=) c.621T>A (p.Val207=) c.680T>A c.1812T>A (p.Val604=) c.2940T>A (p.Val980=) c.3120T>A (p.Val1040=) c.2787T>A (p.Val929=) | |
| 7 | g.117610560T>C | CA457229376 | CFTR | c.3030T>C (p.Val1010=) c.*2744T>C (n.*2744T>C) c.2847T>C (p.Val949=) c.*1330T>C (n.*1330T>C) c.*2854T>C (n.*2854T>C) c.2604T>C (p.Val868=) c.621T>C (p.Val207=) c.680T>C c.1812T>C (p.Val604=) c.2940T>C (p.Val980=) c.3120T>C (p.Val1040=) c.2787T>C (p.Val929=) | |
| 7 | g.117610560T>G | CA457229377 | CFTR | c.3030T>G (p.Val1010=) c.*2744T>G (n.*2744T>G) c.2847T>G (p.Val949=) c.*1330T>G (n.*1330T>G) c.*2854T>G (n.*2854T>G) c.2604T>G (p.Val868=) c.621T>G (p.Val207=) c.680T>G c.1812T>G (p.Val604=) c.2940T>G (p.Val980=) c.3120T>G (p.Val1040=) c.2787T>G (p.Val929=) | |
| 7 | g.117610561T>A | CA368990503 | CFTR | c.3031T>A (p.Leu1011Ile) c.*2745T>A (n.*2745T>A) c.2848T>A (p.Leu950Ile) c.*1331T>A (n.*1331T>A) c.*2855T>A (n.*2855T>A) c.2605T>A (p.Leu869Ile) c.622T>A (p.Leu208Ile) c.681T>A c.1813T>A (p.Leu605Ile) c.2941T>A (p.Leu981Ile) c.3121T>A (p.Leu1041Ile) c.2788T>A (p.Leu930Ile) | |
| 7 | g.117610561T>C | CA457229378 | CFTR | c.3031T>C (p.Leu1011=) c.*2745T>C (n.*2745T>C) c.2848T>C (p.Leu950=) c.*1331T>C (n.*1331T>C) c.*2855T>C (n.*2855T>C) c.2605T>C (p.Leu869=) c.622T>C (p.Leu208=) c.681T>C c.1813T>C (p.Leu605=) c.2941T>C (p.Leu981=) c.3121T>C (p.Leu1041=) c.2788T>C (p.Leu930=) | |
| 7 | g.117610561T>G | CA368990505 | CFTR | c.3031T>G (p.Leu1011Val) c.*2745T>G (n.*2745T>G) c.2848T>G (p.Leu950Val) c.*1331T>G (n.*1331T>G) c.*2855T>G (n.*2855T>G) c.2605T>G (p.Leu869Val) c.622T>G (p.Leu208Val) c.681T>G c.1813T>G (p.Leu605Val) c.2941T>G (p.Leu981Val) c.3121T>G (p.Leu1041Val) c.2788T>G (p.Leu930Val) | |
| 7 | g.117610562T>A | CA368990508 | CFTR | c.3032T>A (p.Leu1011Ter) c.*2746T>A (n.*2746T>A) c.2849T>A (p.Leu950Ter) c.*1332T>A (n.*1332T>A) c.*2856T>A (n.*2856T>A) c.2606T>A (p.Leu869Ter) c.623T>A (p.Leu208Ter) c.682T>A c.1814T>A (p.Leu605Ter) c.2942T>A (p.Leu981Ter) c.3122T>A (p.Leu1041Ter) c.2789T>A (p.Leu930Ter) | |
| 7 | g.117610562T>C | CA368990510 | CFTR | c.3032T>C (p.Leu1011Ser) c.*2746T>C (n.*2746T>C) c.2849T>C (p.Leu950Ser) c.*1332T>C (n.*1332T>C) c.*2856T>C (n.*2856T>C) c.2606T>C (p.Leu869Ser) c.623T>C (p.Leu208Ser) c.682T>C c.1814T>C (p.Leu605Ser) c.2942T>C (p.Leu981Ser) c.3122T>C (p.Leu1041Ser) c.2789T>C (p.Leu930Ser) | |
| 7 | g.117610562T>G | CA368990512 | CFTR | c.3032T>G (p.Leu1011Ter) c.*2746T>G (n.*2746T>G) c.2849T>G (p.Leu950Ter) c.*1332T>G (n.*1332T>G) c.*2856T>G (n.*2856T>G) c.2606T>G (p.Leu869Ter) c.623T>G (p.Leu208Ter) c.682T>G c.1814T>G (p.Leu605Ter) c.2942T>G (p.Leu981Ter) c.3122T>G (p.Leu1041Ter) c.2789T>G (p.Leu930Ter) | ClinVar dbSNP |
| 7 | g.117610562T= | CA1737384841 | CFTR | c.3032T= (p.Leu1011=) c.*2746T= (n.*2746T=) c.2849T= (p.Leu950=) c.*1332T= (n.*1332T=) c.*2856T= (n.*2856T=) c.2606T= (p.Leu869=) c.623T= (p.Leu208=) c.682T= c.1814T= (p.Leu605=) c.2942T= (p.Leu981=) c.3122T= (p.Leu1041=) c.2789T= (p.Leu930=) | |
| 7 | g.117610563A= | CA1737384845 | CFTR | c.3033A= (p.Leu1011=) c.*2747A= (n.*2747A=) c.2850A= (p.Leu950=) c.*1333A= (n.*1333A=) c.*2857A= (n.*2857A=) c.2607A= (p.Leu869=) c.624A= (p.Leu208=) c.683A= c.1815A= (p.Leu605=) c.2943A= (p.Leu981=) c.3123A= (p.Leu1041=) c.2790A= (p.Leu930=) | |
| 7 | g.117610563A>C | CA368990519 | CFTR | c.3033A>C (p.Leu1011Phe) c.*2747A>C (n.*2747A>C) c.2850A>C (p.Leu950Phe) c.*1333A>C (n.*1333A>C) c.*2857A>C (n.*2857A>C) c.2607A>C (p.Leu869Phe) c.624A>C (p.Leu208Phe) c.683A>C c.1815A>C (p.Leu605Phe) c.2943A>C (p.Leu981Phe) c.3123A>C (p.Leu1041Phe) c.2790A>C (p.Leu930Phe) | |
| 7 | g.117610563A>G | CA4451366 | CFTR | c.3033A>G (p.Leu1011=) c.*2747A>G (n.*2747A>G) c.2850A>G (p.Leu950=) c.*1333A>G (n.*1333A>G) c.*2857A>G (n.*2857A>G) c.2607A>G (p.Leu869=) c.624A>G (p.Leu208=) c.683A>G c.1815A>G (p.Leu605=) c.2943A>G (p.Leu981=) c.3123A>G (p.Leu1041=) c.2790A>G (p.Leu930=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117610563A>T | CA368990515 | CFTR | c.3033A>T (p.Leu1011Phe) c.*2747A>T (n.*2747A>T) c.2850A>T (p.Leu950Phe) c.*1333A>T (n.*1333A>T) c.*2857A>T (n.*2857A>T) c.2607A>T (p.Leu869Phe) c.624A>T (p.Leu208Phe) c.683A>T c.1815A>T (p.Leu605Phe) c.2943A>T (p.Leu981Phe) c.3123A>T (p.Leu1041Phe) c.2790A>T (p.Leu930Phe) |