Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117602152_117612006delCA325806CFTRc.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
7g.117602152_117612040delCA2499218685CFTRc.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
7g.117604867_117612068delCA913190213CFTRc.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
7g.117606038_117613002delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTGCA2580076402CFTRc.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
7g.117606676_117611810delCA913190200CFTRc.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
7g.117607926_117616824delCA1139532136CFTRc.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
7g.117608369_117612164delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCCCA2580076408CFTRc.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
7g.117609542_117612056delCA325807CFTRc.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
7g.117609611_117610615delinsGACAGCA915945433CFTRc.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
7g.117610512C>ACA2684588297CFTRc.2989-7C>A (n.2989-7C>A)
c.*2703-7C>A (n.*2703-7C>A)
c.2806-7C>A (n.2806-7C>A)
c.*1289-7C>A (n.*1289-7C>A)
c.*2813-7C>A (n.*2813-7C>A)
c.2563-7C>A (n.2563-7C>A)
c.580-7C>A (n.580-7C>A)
c.639-7C>A
c.1771-7C>A (n.1771-7C>A)
c.2899-7C>A (n.2899-7C>A)
c.3079-7C>A (n.3079-7C>A)
c.2746-7C>A (n.2746-7C>A)
 gnomAD v4
7g.117610513T>CCA2739279037CFTRc.2989-6T>C (n.2989-6T>C)
c.*2703-6T>C (n.*2703-6T>C)
c.2806-6T>C (n.2806-6T>C)
c.*1289-6T>C (n.*1289-6T>C)
c.*2813-6T>C (n.*2813-6T>C)
c.2563-6T>C (n.2563-6T>C)
c.580-6T>C (n.580-6T>C)
c.639-6T>C
c.1771-6T>C (n.1771-6T>C)
c.2899-6T>C (n.2899-6T>C)
c.3079-6T>C (n.3079-6T>C)
c.2746-6T>C (n.2746-6T>C)
 ClinVar
7g.117610514T>CCA164964994CFTRc.2989-5T>C (n.2989-5T>C)
c.*2703-5T>C (n.*2703-5T>C)
c.2806-5T>C (n.2806-5T>C)
c.*1289-5T>C (n.*1289-5T>C)
c.*2813-5T>C (n.*2813-5T>C)
c.2563-5T>C (n.2563-5T>C)
c.580-5T>C (n.580-5T>C)
c.639-5T>C
c.1771-5T>C (n.1771-5T>C)
c.2899-5T>C (n.2899-5T>C)
c.3079-5T>C (n.3079-5T>C)
c.2746-5T>C (n.2746-5T>C)
 dbSNP gnomAD v3
7g.117610514T=CA1737384608CFTRc.2989-5T= (n.2989-5T=)
c.*2703-5T= (n.*2703-5T=)
c.2806-5T= (n.2806-5T=)
c.*1289-5T= (n.*1289-5T=)
c.*2813-5T= (n.*2813-5T=)
c.2563-5T= (n.2563-5T=)
c.580-5T= (n.580-5T=)
c.639-5T=
c.1771-5T= (n.1771-5T=)
c.2899-5T= (n.2899-5T=)
c.3079-5T= (n.3079-5T=)
c.2746-5T= (n.2746-5T=)
7g.117610515A=CA1737384612CFTRc.2989-4A= (n.2989-4A=)
c.*2703-4A= (n.*2703-4A=)
c.2806-4A= (n.2806-4A=)
c.*1289-4A= (n.*1289-4A=)
c.*2813-4A= (n.*2813-4A=)
c.2563-4A= (n.2563-4A=)
c.580-4A= (n.580-4A=)
c.639-4A=
c.1771-4A= (n.1771-4A=)
c.2899-4A= (n.2899-4A=)
c.3079-4A= (n.3079-4A=)
c.2746-4A= (n.2746-4A=)
7g.117610515A>GCA1737384613CFTRc.2989-4A>G (n.2989-4A>G)
c.*2703-4A>G (n.*2703-4A>G)
c.2806-4A>G (n.2806-4A>G)
c.*1289-4A>G (n.*1289-4A>G)
c.*2813-4A>G (n.*2813-4A>G)
c.2563-4A>G (n.2563-4A>G)
c.580-4A>G (n.580-4A>G)
c.639-4A>G
c.1771-4A>G (n.1771-4A>G)
c.2899-4A>G (n.2899-4A>G)
c.3079-4A>G (n.3079-4A>G)
c.2746-4A>G (n.2746-4A>G)
 dbSNP gnomAD v4
7g.117610519_117611808delCA913189830CFTRc.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
7g.117610516C=CA1737384622CFTRc.2989-3C= (n.2989-3C=)
c.*2703-3C= (n.*2703-3C=)
c.2806-3C= (n.2806-3C=)
c.*1289-3C= (n.*1289-3C=)
c.*2813-3C= (n.*2813-3C=)
c.2563-3C= (n.2563-3C=)
c.580-3C= (n.580-3C=)
c.639-3C=
c.1771-3C= (n.1771-3C=)
c.2899-3C= (n.2899-3C=)
c.3079-3C= (n.3079-3C=)
c.2746-3C= (n.2746-3C=)
7g.117610516C>GCA326998CFTRc.2989-3C>G (n.2989-3C>G)
c.*2703-3C>G (n.*2703-3C>G)
c.2806-3C>G (n.2806-3C>G)
c.*1289-3C>G (n.*1289-3C>G)
c.*2813-3C>G (n.*2813-3C>G)
c.2563-3C>G (n.2563-3C>G)
c.580-3C>G (n.580-3C>G)
c.639-3C>G
c.1771-3C>G (n.1771-3C>G)
c.2899-3C>G (n.2899-3C>G)
c.3079-3C>G (n.3079-3C>G)
c.2746-3C>G (n.2746-3C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117610516C>TCA577680825CFTRc.2989-3C>T (n.2989-3C>T)
c.*2703-3C>T (n.*2703-3C>T)
c.2806-3C>T (n.2806-3C>T)
c.*1289-3C>T (n.*1289-3C>T)
c.*2813-3C>T (n.*2813-3C>T)
c.2563-3C>T (n.2563-3C>T)
c.580-3C>T (n.580-3C>T)
c.639-3C>T
c.1771-3C>T (n.1771-3C>T)
c.2899-3C>T (n.2899-3C>T)
c.3079-3C>T (n.3079-3C>T)
c.2746-3C>T (n.2746-3C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117610516_117610667delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGACA1737384620CFTRc.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
7g.117610517A=CA1737384628CFTRc.2989-2A= (n.2989-2A=)
c.*2703-2A= (n.*2703-2A=)
c.2806-2A= (n.2806-2A=)
c.*1289-2A= (n.*1289-2A=)
c.*2813-2A= (n.*2813-2A=)
c.2563-2A= (n.2563-2A=)
c.580-2A= (n.580-2A=)
c.639-2A=
c.1771-2A= (n.1771-2A=)
c.2899-2A= (n.2899-2A=)
c.3079-2A= (n.3079-2A=)
c.2746-2A= (n.2746-2A=)
7g.117610517A>CCA368990217CFTRc.2989-2A>C (n.2989-2A>C)
c.*2703-2A>C (n.*2703-2A>C)
c.2806-2A>C (n.2806-2A>C)
c.*1289-2A>C (n.*1289-2A>C)
c.*2813-2A>C (n.*2813-2A>C)
c.2563-2A>C (n.2563-2A>C)
c.580-2A>C (n.580-2A>C)
c.639-2A>C
c.1771-2A>C (n.1771-2A>C)
c.2899-2A>C (n.2899-2A>C)
c.3079-2A>C (n.3079-2A>C)
c.2746-2A>C (n.2746-2A>C)
7g.117610517A>GCA326997CFTRc.2989-2A>G (n.2989-2A>G)
c.*2703-2A>G (n.*2703-2A>G)
c.2806-2A>G (n.2806-2A>G)
c.*1289-2A>G (n.*1289-2A>G)
c.*2813-2A>G (n.*2813-2A>G)
c.2563-2A>G (n.2563-2A>G)
c.580-2A>G (n.580-2A>G)
c.639-2A>G
c.1771-2A>G (n.1771-2A>G)
c.2899-2A>G (n.2899-2A>G)
c.3079-2A>G (n.3079-2A>G)
c.2746-2A>G (n.2746-2A>G)
 ClinVar dbSNP gnomAD v4
7g.117610517A>TCA325704CFTRc.2989-2A>T (n.2989-2A>T)
c.*2703-2A>T (n.*2703-2A>T)
c.2806-2A>T (n.2806-2A>T)
c.*1289-2A>T (n.*1289-2A>T)
c.*2813-2A>T (n.*2813-2A>T)
c.2563-2A>T (n.2563-2A>T)
c.580-2A>T (n.580-2A>T)
c.639-2A>T
c.1771-2A>T (n.1771-2A>T)
c.2899-2A>T (n.2899-2A>T)
c.3079-2A>T (n.3079-2A>T)
c.2746-2A>T (n.2746-2A>T)
 ClinVar dbSNP
7g.117610519_117610669delCA326999CFTRc.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
7g.117610518G>ACA345319CFTRc.2989-1G>A (n.2989-1G>A)
c.*2703-1G>A (n.*2703-1G>A)
c.2806-1G>A (n.2806-1G>A)
c.*1289-1G>A (n.*1289-1G>A)
c.*2813-1G>A (n.*2813-1G>A)
c.2563-1G>A (n.2563-1G>A)
c.580-1G>A (n.580-1G>A)
c.639-1G>A
c.1771-1G>A (n.1771-1G>A)
c.2899-1G>A (n.2899-1G>A)
c.3079-1G>A (n.3079-1G>A)
c.2746-1G>A (n.2746-1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117610518G>CCA368990230CFTRc.2989-1G>C (n.2989-1G>C)
c.*2703-1G>C (n.*2703-1G>C)
c.2806-1G>C (n.2806-1G>C)
c.*1289-1G>C (n.*1289-1G>C)
c.*2813-1G>C (n.*2813-1G>C)
c.2563-1G>C (n.2563-1G>C)
c.580-1G>C (n.580-1G>C)
c.639-1G>C
c.1771-1G>C (n.1771-1G>C)
c.2899-1G>C (n.2899-1G>C)
c.3079-1G>C (n.3079-1G>C)
c.2746-1G>C (n.2746-1G>C)
7g.117610518G=CA1737384637CFTRc.2989-1G= (n.2989-1G=)
c.*2703-1G= (n.*2703-1G=)
c.2806-1G= (n.2806-1G=)
c.*1289-1G= (n.*1289-1G=)
c.*2813-1G= (n.*2813-1G=)
c.2563-1G= (n.2563-1G=)
c.580-1G= (n.580-1G=)
c.639-1G=
c.1771-1G= (n.1771-1G=)
c.2899-1G= (n.2899-1G=)
c.3079-1G= (n.3079-1G=)
c.2746-1G= (n.2746-1G=)
7g.117610518G>TCA368990231CFTRc.2989-1G>T (n.2989-1G>T)
c.*2703-1G>T (n.*2703-1G>T)
c.2806-1G>T (n.2806-1G>T)
c.*1289-1G>T (n.*1289-1G>T)
c.*2813-1G>T (n.*2813-1G>T)
c.2563-1G>T (n.2563-1G>T)
c.580-1G>T (n.580-1G>T)
c.639-1G>T
c.1771-1G>T (n.1771-1G>T)
c.2899-1G>T (n.2899-1G>T)
c.3079-1G>T (n.3079-1G>T)
c.2746-1G>T (n.2746-1G>T)
7g.117610521_117610523delCA645541519CFTRc.2991_2993del
c.*2705_*2707del
c.2808_2810del
c.*1291_*1293del
c.*2815_*2817del
c.2565_2567del
c.582_584del
c.641_643del
c.1773_1775del
c.2901_2903del
c.3081_3083del
c.2748_2750del
 ClinVar COSMIC
7g.117610519_117614713delCA913189831CFTRc.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
7g.117610519T>ACA368990234CFTRc.2989T>A (p.Leu997Met)
c.*2703T>A (n.*2703T>A)
c.2806T>A (p.Leu936Met)
c.*1289T>A (n.*1289T>A)
c.*2813T>A (n.*2813T>A)
c.2563T>A (p.Leu855Met)
c.580T>A (p.Leu194Met)
c.639T>A
c.1771T>A (p.Leu591Met)
c.2899T>A (p.Leu967Met)
c.3079T>A (p.Leu1027Met)
c.2746T>A (p.Leu916Met)
7g.117610519T>CCA457229343CFTRc.2989T>C (p.Leu997=)
c.*2703T>C (n.*2703T>C)
c.2806T>C (p.Leu936=)
c.*1289T>C (n.*1289T>C)
c.*2813T>C (n.*2813T>C)
c.2563T>C (p.Leu855=)
c.580T>C (p.Leu194=)
c.639T>C
c.1771T>C (p.Leu591=)
c.2899T>C (p.Leu967=)
c.3079T>C (p.Leu1027=)
c.2746T>C (p.Leu916=)
7g.117610519T>GCA368990236CFTRc.2989T>G (p.Leu997Val)
c.*2703T>G (n.*2703T>G)
c.2806T>G (p.Leu936Val)
c.*1289T>G (n.*1289T>G)
c.*2813T>G (n.*2813T>G)
c.2563T>G (p.Leu855Val)
c.580T>G (p.Leu194Val)
c.639T>G
c.1771T>G (p.Leu591Val)
c.2899T>G (p.Leu967Val)
c.3079T>G (p.Leu1027Val)
c.2746T>G (p.Leu916Val)
7g.117610520T>ACA368990247CFTRc.2990T>A (p.Leu997Ter)
c.*2704T>A (n.*2704T>A)
c.2807T>A (p.Leu936Ter)
c.*1290T>A (n.*1290T>A)
c.*2814T>A (n.*2814T>A)
c.2564T>A (p.Leu855Ter)
c.581T>A (p.Leu194Ter)
c.640T>A
c.1772T>A (p.Leu591Ter)
c.2900T>A (p.Leu967Ter)
c.3080T>A (p.Leu1027Ter)
c.2747T>A (p.Leu916Ter)
 gnomAD v4
7g.117610520T>CCA368990244CFTRc.2990T>C (p.Leu997Ser)
c.*2704T>C (n.*2704T>C)
c.2807T>C (p.Leu936Ser)
c.*1290T>C (n.*1290T>C)
c.*2814T>C (n.*2814T>C)
c.2564T>C (p.Leu855Ser)
c.581T>C (p.Leu194Ser)
c.640T>C
c.1772T>C (p.Leu591Ser)
c.2900T>C (p.Leu967Ser)
c.3080T>C (p.Leu1027Ser)
c.2747T>C (p.Leu916Ser)
7g.117610520T>GCA368990238CFTRc.2990T>G (p.Leu997Trp)
c.*2704T>G (n.*2704T>G)
c.2807T>G (p.Leu936Trp)
c.*1290T>G (n.*1290T>G)
c.*2814T>G (n.*2814T>G)
c.2564T>G (p.Leu855Trp)
c.581T>G (p.Leu194Trp)
c.640T>G
c.1772T>G (p.Leu591Trp)
c.2900T>G (p.Leu967Trp)
c.3080T>G (p.Leu1027Trp)
c.2747T>G (p.Leu916Trp)
7g.117610521G>ACA457229344CFTRc.2991G>A (p.Leu997=)
c.*2705G>A (n.*2705G>A)
c.2808G>A (p.Leu936=)
c.*1291G>A (n.*1291G>A)
c.*2815G>A (n.*2815G>A)
c.2565G>A (p.Leu855=)
c.582G>A (p.Leu194=)
c.641G>A
c.1773G>A (p.Leu591=)
c.2901G>A (p.Leu967=)
c.3081G>A (p.Leu1027=)
c.2748G>A (p.Leu916=)
 ClinVar dbSNP
7g.117610521G>CCA090907CFTRc.2991G>C (p.Leu997Phe)
c.*2705G>C (n.*2705G>C)
c.2808G>C (p.Leu936Phe)
c.*1291G>C (n.*1291G>C)
c.*2815G>C (n.*2815G>C)
c.2565G>C (p.Leu855Phe)
c.582G>C (p.Leu194Phe)
c.641G>C
c.1773G>C (p.Leu591Phe)
c.2901G>C (p.Leu967Phe)
c.3081G>C (p.Leu1027Phe)
c.2748G>C (p.Leu916Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117610521G=CA1737384647CFTRc.2991G= (p.Leu997=)
c.*2705G= (n.*2705G=)
c.2808G= (p.Leu936=)
c.*1291G= (n.*1291G=)
c.*2815G= (n.*2815G=)
c.2565G= (p.Leu855=)
c.582G= (p.Leu194=)
c.641G=
c.1773G= (p.Leu591=)
c.2901G= (p.Leu967=)
c.3081G= (p.Leu1027=)
c.2748G= (p.Leu916=)
7g.117610521G>TCA368990251CFTRc.2991G>T (p.Leu997Phe)
c.*2705G>T (n.*2705G>T)
c.2808G>T (p.Leu936Phe)
c.*1291G>T (n.*1291G>T)
c.*2815G>T (n.*2815G>T)
c.2565G>T (p.Leu855Phe)
c.582G>T (p.Leu194Phe)
c.641G>T
c.1773G>T (p.Leu591Phe)
c.2901G>T (p.Leu967Phe)
c.3081G>T (p.Leu1027Phe)
c.2748G>T (p.Leu916Phe)
 gnomAD v4
7g.117610521_117610522delinsGTCA1737384650CFTRc.2991_2992delinsGT (p.Leu997=)
c.*2705_*2706delinsGT (n.*2705_*2706delinsGT)
c.2808_2809delinsGT (p.Leu936=)
c.*1291_*1292delinsGT (n.*1291_*1292delinsGT)
c.*2815_*2816delinsGT (n.*2815_*2816delinsGT)
c.2565_2566delinsGT (p.Leu855=)
c.582_583delinsGT (p.Leu194=)
c.641_642delinsGT
c.1773_1774delinsGT (p.Leu591=)
c.2901_2902delinsGT (p.Leu967=)
c.3081_3082delinsGT (p.Leu1027=)
c.2748_2749delinsGT (p.Leu916=)
7g.117610522T>ACA368990254CFTRc.2992T>A (p.Leu998Ile)
c.*2706T>A (n.*2706T>A)
c.2809T>A (p.Leu937Ile)
c.*1292T>A (n.*1292T>A)
c.*2816T>A (n.*2816T>A)
c.2566T>A (p.Leu856Ile)
c.583T>A (p.Leu195Ile)
c.642T>A
c.1774T>A (p.Leu592Ile)
c.2902T>A (p.Leu968Ile)
c.3082T>A (p.Leu1028Ile)
c.2749T>A (p.Leu917Ile)
 ClinVar dbSNP gnomAD v4
7g.117610522T>CCA457229345CFTRc.2992T>C (p.Leu998=)
c.*2706T>C (n.*2706T>C)
c.2809T>C (p.Leu937=)
c.*1292T>C (n.*1292T>C)
c.*2816T>C (n.*2816T>C)
c.2566T>C (p.Leu856=)
c.583T>C (p.Leu195=)
c.642T>C
c.1774T>C (p.Leu592=)
c.2902T>C (p.Leu968=)
c.3082T>C (p.Leu1028=)
c.2749T>C (p.Leu917=)
7g.117610522T>GCA368990258CFTRc.2992T>G (p.Leu998Val)
c.*2706T>G (n.*2706T>G)
c.2809T>G (p.Leu937Val)
c.*1292T>G (n.*1292T>G)
c.*2816T>G (n.*2816T>G)
c.2566T>G (p.Leu856Val)
c.583T>G (p.Leu195Val)
c.642T>G
c.1774T>G (p.Leu592Val)
c.2902T>G (p.Leu968Val)
c.3082T>G (p.Leu1028Val)
c.2749T>G (p.Leu917Val)
7g.117610523delCA16041135CFTRc.2993del (p.Leu998TyrfsTer2)
c.*2707del (n.*2707del)
c.2810del (p.Leu937TyrfsTer2)
c.*1293del (n.*1293del)
c.*2817del (n.*2817del)
c.2567del (p.Leu856TyrfsTer2)
c.584del (p.Leu195TyrfsTer2)
c.643del
c.1775del (p.Leu592TyrfsTer2)
c.2903del (p.Leu968TyrfsTer2)
c.3083del (p.Leu1028TyrfsTer2)
c.2750del (p.Leu917TyrfsTer2)
 ClinVar dbSNP gnomAD v4
7g.117610523T>ACA368990269CFTRc.2993T>A (p.Leu998Ter)
c.*2707T>A (n.*2707T>A)
c.2810T>A (p.Leu937Ter)
c.*1293T>A (n.*1293T>A)
c.*2817T>A (n.*2817T>A)
c.2567T>A (p.Leu856Ter)
c.584T>A (p.Leu195Ter)
c.643T>A
c.1775T>A (p.Leu592Ter)
c.2903T>A (p.Leu968Ter)
c.3083T>A (p.Leu1028Ter)
c.2750T>A (p.Leu917Ter)
7g.117610523T>CCA368990263CFTRc.2993T>C (p.Leu998Ser)
c.*2707T>C (n.*2707T>C)
c.2810T>C (p.Leu937Ser)
c.*1293T>C (n.*1293T>C)
c.*2817T>C (n.*2817T>C)
c.2567T>C (p.Leu856Ser)
c.584T>C (p.Leu195Ser)
c.643T>C
c.1775T>C (p.Leu592Ser)
c.2903T>C (p.Leu968Ser)
c.3083T>C (p.Leu1028Ser)
c.2750T>C (p.Leu917Ser)
7g.117610523T>GCA368990267CFTRc.2993T>G (p.Leu998Ter)
c.*2707T>G (n.*2707T>G)
c.2810T>G (p.Leu937Ter)
c.*1293T>G (n.*1293T>G)
c.*2817T>G (n.*2817T>G)
c.2567T>G (p.Leu856Ter)
c.584T>G (p.Leu195Ter)
c.643T>G
c.1775T>G (p.Leu592Ter)
c.2903T>G (p.Leu968Ter)
c.3083T>G (p.Leu1028Ter)
c.2750T>G (p.Leu917Ter)
7g.117610523_117610524delinsTACA1737384655CFTRc.2993_2994delinsTA (p.Leu998=)
c.*2707_*2708delinsTA (n.*2707_*2708delinsTA)
c.2810_2811delinsTA (p.Leu937=)
c.*1293_*1294delinsTA (n.*1293_*1294delinsTA)
c.*2817_*2818delinsTA (n.*2817_*2818delinsTA)
c.2567_2568delinsTA (p.Leu856=)
c.584_585delinsTA (p.Leu195=)
c.643_644delinsTA
c.1775_1776delinsTA (p.Leu592=)
c.2903_2904delinsTA (p.Leu968=)
c.3083_3084delinsTA (p.Leu1028=)
c.2750_2751delinsTA (p.Leu917=)
7g.117610523_117610527delinsTATTACA1737384657CFTRc.2993_2997delinsTATTA (p.Leu998=)
c.*2707_*2711delinsTATTA (n.*2707_*2711delinsTATTA)
c.2810_2814delinsTATTA (p.Leu937=)
c.*1293_*1297delinsTATTA (n.*1293_*1297delinsTATTA)
c.*2817_*2821delinsTATTA (n.*2817_*2821delinsTATTA)
c.2567_2571delinsTATTA (p.Leu856=)
c.584_588delinsTATTA (p.Leu195=)
c.643_647delinsTATTA
c.1775_1779delinsTATTA (p.Leu592=)
c.2903_2907delinsTATTA (p.Leu968=)
c.3083_3087delinsTATTA (p.Leu1028=)
c.2750_2754delinsTATTA (p.Leu917=)
7g.117610524delCA4451360CFTRc.2994del (p.Leu998PhefsTer2)
c.*2708del (n.*2708del)
c.2811del (p.Leu937PhefsTer2)
c.*1294del (n.*1294del)
c.*2818del (n.*2818del)
c.2568del (p.Leu856PhefsTer2)
c.585del (p.Leu195PhefsTer2)
c.644del
c.1776del (p.Leu592PhefsTer2)
c.2904del (p.Leu968PhefsTer2)
c.3084del (p.Leu1028PhefsTer2)
c.2751del (p.Leu917PhefsTer2)
 ClinVar dbSNP ExAC gnomAD v2
7g.117610524A=CA1737384672CFTRc.2994A= (p.Leu998=)
c.*2708A= (n.*2708A=)
c.2811A= (p.Leu937=)
c.*1294A= (n.*1294A=)
c.*2818A= (n.*2818A=)
c.2568A= (p.Leu856=)
c.585A= (p.Leu195=)
c.644A=
c.1776A= (p.Leu592=)
c.2904A= (p.Leu968=)
c.3084A= (p.Leu1028=)
c.2751A= (p.Leu917=)
7g.117610524A>CCA368990279CFTRc.2994A>C (p.Leu998Phe)
c.*2708A>C (n.*2708A>C)
c.2811A>C (p.Leu937Phe)
c.*1294A>C (n.*1294A>C)
c.*2818A>C (n.*2818A>C)
c.2568A>C (p.Leu856Phe)
c.585A>C (p.Leu195Phe)
c.644A>C
c.1776A>C (p.Leu592Phe)
c.2904A>C (p.Leu968Phe)
c.3084A>C (p.Leu1028Phe)
c.2751A>C (p.Leu917Phe)
 ClinVar
7g.117610524A>GCA4451361CFTRc.2994A>G (p.Leu998=)
c.*2708A>G (n.*2708A>G)
c.2811A>G (p.Leu937=)
c.*1294A>G (n.*1294A>G)
c.*2818A>G (n.*2818A>G)
c.2568A>G (p.Leu856=)
c.585A>G (p.Leu195=)
c.644A>G
c.1776A>G (p.Leu592=)
c.2904A>G (p.Leu968=)
c.3084A>G (p.Leu1028=)
c.2751A>G (p.Leu917=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117610524A>TCA368990277CFTRc.2994A>T (p.Leu998Phe)
c.*2708A>T (n.*2708A>T)
c.2811A>T (p.Leu937Phe)
c.*1294A>T (n.*1294A>T)
c.*2818A>T (n.*2818A>T)
c.2568A>T (p.Leu856Phe)
c.585A>T (p.Leu195Phe)
c.644A>T
c.1776A>T (p.Leu592Phe)
c.2904A>T (p.Leu968Phe)
c.3084A>T (p.Leu1028Phe)
c.2751A>T (p.Leu917Phe)
 ClinVar
7g.117610527_117610530delCA327000CFTRc.2997_3000del (p.Ile1000Ter)
c.*2711_*2714del (n.*2711_*2714del)
c.2814_2817del (p.Ile939Ter)
c.*1297_*1300del (n.*1297_*1300del)
c.*2821_*2824del (n.*2821_*2824del)
c.2571_2574del (p.Ile858Ter)
c.588_591del (p.Ile197Ter)
c.647_650del
c.1779_1782del (p.Ile594Ter)
c.2907_2910del (p.Ile970Ter)
c.3087_3090del (p.Ile1030Ter)
c.2754_2757del (p.Ile919Ter)
 ClinVar dbSNP gnomAD v4
7g.117610525T>ACA368990282CFTRc.2995T>A (p.Leu999Ile)
c.*2709T>A (n.*2709T>A)
c.2812T>A (p.Leu938Ile)
c.*1295T>A (n.*1295T>A)
c.*2819T>A (n.*2819T>A)
c.2569T>A (p.Leu857Ile)
c.586T>A (p.Leu196Ile)
c.645T>A
c.1777T>A (p.Leu593Ile)
c.2905T>A (p.Leu969Ile)
c.3085T>A (p.Leu1029Ile)
c.2752T>A (p.Leu918Ile)
7g.117610525T>CCA457229346CFTRc.2995T>C (p.Leu999=)
c.*2709T>C (n.*2709T>C)
c.2812T>C (p.Leu938=)
c.*1295T>C (n.*1295T>C)
c.*2819T>C (n.*2819T>C)
c.2569T>C (p.Leu857=)
c.586T>C (p.Leu196=)
c.645T>C
c.1777T>C (p.Leu593=)
c.2905T>C (p.Leu969=)
c.3085T>C (p.Leu1029=)
c.2752T>C (p.Leu918=)
 gnomAD v3 gnomAD v4
7g.117610525T>GCA368990285CFTRc.2995T>G (p.Leu999Val)
c.*2709T>G (n.*2709T>G)
c.2812T>G (p.Leu938Val)
c.*1295T>G (n.*1295T>G)
c.*2819T>G (n.*2819T>G)
c.2569T>G (p.Leu857Val)
c.586T>G (p.Leu196Val)
c.645T>G
c.1777T>G (p.Leu593Val)
c.2905T>G (p.Leu969Val)
c.3085T>G (p.Leu1029Val)
c.2752T>G (p.Leu918Val)
7g.117610526T>ACA368990288CFTRc.2996T>A (p.Leu999Ter)
c.*2710T>A (n.*2710T>A)
c.2813T>A (p.Leu938Ter)
c.*1296T>A (n.*1296T>A)
c.*2820T>A (n.*2820T>A)
c.2570T>A (p.Leu857Ter)
c.587T>A (p.Leu196Ter)
c.646T>A
c.1778T>A (p.Leu593Ter)
c.2906T>A (p.Leu969Ter)
c.3086T>A (p.Leu1029Ter)
c.2753T>A (p.Leu918Ter)
7g.117610526T>CCA368990290CFTRc.2996T>C (p.Leu999Ser)
c.*2710T>C (n.*2710T>C)
c.2813T>C (p.Leu938Ser)
c.*1296T>C (n.*1296T>C)
c.*2820T>C (n.*2820T>C)
c.2570T>C (p.Leu857Ser)
c.587T>C (p.Leu196Ser)
c.646T>C
c.1778T>C (p.Leu593Ser)
c.2906T>C (p.Leu969Ser)
c.3086T>C (p.Leu1029Ser)
c.2753T>C (p.Leu918Ser)
7g.117610526T>GCA368990291CFTRc.2996T>G (p.Leu999Ter)
c.*2710T>G (n.*2710T>G)
c.2813T>G (p.Leu938Ter)
c.*1296T>G (n.*1296T>G)
c.*2820T>G (n.*2820T>G)
c.2570T>G (p.Leu857Ter)
c.587T>G (p.Leu196Ter)
c.646T>G
c.1778T>G (p.Leu593Ter)
c.2906T>G (p.Leu969Ter)
c.3086T>G (p.Leu1029Ter)
c.2753T>G (p.Leu918Ter)
7g.117610526_117610527delinsTACA1737384677CFTRc.2996_2997delinsTA (p.Leu999=)
c.*2710_*2711delinsTA (n.*2710_*2711delinsTA)
c.2813_2814delinsTA (p.Leu938=)
c.*1296_*1297delinsTA (n.*1296_*1297delinsTA)
c.*2820_*2821delinsTA (n.*2820_*2821delinsTA)
c.2570_2571delinsTA (p.Leu857=)
c.587_588delinsTA (p.Leu196=)
c.646_647delinsTA
c.1778_1779delinsTA (p.Leu593=)
c.2906_2907delinsTA (p.Leu969=)
c.3086_3087delinsTA (p.Leu1029=)
c.2753_2754delinsTA (p.Leu918=)
7g.117610527A>CCA368990295CFTRc.2997A>C (p.Leu999Phe)
c.*2711A>C (n.*2711A>C)
c.2814A>C (p.Leu938Phe)
c.*1297A>C (n.*1297A>C)
c.*2821A>C (n.*2821A>C)
c.2571A>C (p.Leu857Phe)
c.588A>C (p.Leu196Phe)
c.647A>C
c.1779A>C (p.Leu593Phe)
c.2907A>C (p.Leu969Phe)
c.3087A>C (p.Leu1029Phe)
c.2754A>C (p.Leu918Phe)
7g.117610527A>GCA457229347CFTRc.2997A>G (p.Leu999=)
c.*2711A>G (n.*2711A>G)
c.2814A>G (p.Leu938=)
c.*1297A>G (n.*1297A>G)
c.*2821A>G (n.*2821A>G)
c.2571A>G (p.Leu857=)
c.588A>G (p.Leu196=)
c.647A>G
c.1779A>G (p.Leu593=)
c.2907A>G (p.Leu969=)
c.3087A>G (p.Leu1029=)
c.2754A>G (p.Leu918=)
 gnomAD v4
7g.117610527A>TCA368990298CFTRc.2997A>T (p.Leu999Phe)
c.*2711A>T (n.*2711A>T)
c.2814A>T (p.Leu938Phe)
c.*1297A>T (n.*1297A>T)
c.*2821A>T (n.*2821A>T)
c.2571A>T (p.Leu857Phe)
c.588A>T (p.Leu196Phe)
c.647A>T
c.1779A>T (p.Leu593Phe)
c.2907A>T (p.Leu969Phe)
c.3087A>T (p.Leu1029Phe)
c.2754A>T (p.Leu918Phe)
7g.117610528delCA327002CFTRc.2998del (p.Ile1000LeufsTer2)
c.*2712del (n.*2712del)
c.2815del (p.Ile939LeufsTer2)
c.*1298del (n.*1298del)
c.*2822del (n.*2822del)
c.2572del (p.Ile858LeufsTer2)
c.589del (p.Ile197LeufsTer2)
c.648del
c.1780del (p.Ile594LeufsTer2)
c.2908del (p.Ile970LeufsTer2)
c.3088del (p.Ile1030LeufsTer2)
c.2755del (p.Ile919LeufsTer2)
 ClinVar dbSNP
7g.117610527_117610549delinsAATTGTGATTGGAGCTATAGCAGCA1737384684CFTRc.2997_3019delinsAATTGTGATTGGAGCTATAGCAG (p.Leu999=)
c.*2711_*2733delinsAATTGTGATTGGAGCTATAGCAG (n.*2711_*2733delinsAATTGTGATTGGAGCTATAGCAG)
c.2814_2836delinsAATTGTGATTGGAGCTATAGCAG (p.Leu938=)
c.*1297_*1319delinsAATTGTGATTGGAGCTATAGCAG (n.*1297_*1319delinsAATTGTGATTGGAGCTATAGCAG)
c.*2821_*2843delinsAATTGTGATTGGAGCTATAGCAG (n.*2821_*2843delinsAATTGTGATTGGAGCTATAGCAG)
c.2571_2593delinsAATTGTGATTGGAGCTATAGCAG (p.Leu857=)
c.588_610delinsAATTGTGATTGGAGCTATAGCAG (p.Leu196=)
c.647_669delinsAATTGTGATTGGAGCTATAGCAG
c.1779_1801delinsAATTGTGATTGGAGCTATAGCAG (p.Leu593=)
c.2907_2929delinsAATTGTGATTGGAGCTATAGCAG (p.Leu969=)
c.3087_3109delinsAATTGTGATTGGAGCTATAGCAG (p.Leu1029=)
c.2754_2776delinsAATTGTGATTGGAGCTATAGCAG (p.Leu918=)
7g.117610528A>CCA368990300CFTRc.2998A>C (p.Ile1000Leu)
c.*2712A>C (n.*2712A>C)
c.2815A>C (p.Ile939Leu)
c.*1298A>C (n.*1298A>C)
c.*2822A>C (n.*2822A>C)
c.2572A>C (p.Ile858Leu)
c.589A>C (p.Ile197Leu)
c.648A>C
c.1780A>C (p.Ile594Leu)
c.2908A>C (p.Ile970Leu)
c.3088A>C (p.Ile1030Leu)
c.2755A>C (p.Ile919Leu)
7g.117610528A>GCA368990302CFTRc.2998A>G (p.Ile1000Val)
c.*2712A>G (n.*2712A>G)
c.2815A>G (p.Ile939Val)
c.*1298A>G (n.*1298A>G)
c.*2822A>G (n.*2822A>G)
c.2572A>G (p.Ile858Val)
c.589A>G (p.Ile197Val)
c.648A>G
c.1780A>G (p.Ile594Val)
c.2908A>G (p.Ile970Val)
c.3088A>G (p.Ile1030Val)
c.2755A>G (p.Ile919Val)
 gnomAD v4
7g.117610528A>TCA368990304CFTRc.2998A>T (p.Ile1000Phe)
c.*2712A>T (n.*2712A>T)
c.2815A>T (p.Ile939Phe)
c.*1298A>T (n.*1298A>T)
c.*2822A>T (n.*2822A>T)
c.2572A>T (p.Ile858Phe)
c.589A>T (p.Ile197Phe)
c.648A>T
c.1780A>T (p.Ile594Phe)
c.2908A>T (p.Ile970Phe)
c.3088A>T (p.Ile1030Phe)
c.2755A>T (p.Ile919Phe)
7g.117610530_117610544delCA2579000359CFTRc.3000_3014del (p.Val1001_Ile1005del)
c.*2714_*2728del (n.*2714_*2728del)
c.2817_2831del (p.Val940_Ile944del)
c.*1300_*1314del (n.*1300_*1314del)
c.*2824_*2838del (n.*2824_*2838del)
c.2574_2588del (p.Val859_Ile863del)
c.591_605del (p.Val198_Ile202del)
c.650_664del
c.1782_1796del (p.Val595_Ile599del)
c.2910_2924del (p.Val971_Ile975del)
c.3090_3104del (p.Val1031_Ile1035del)
c.2757_2771del (p.Val920_Ile924del)
 ClinVar
7g.117610528_117610549delCA327001CFTRc.2998_3019del (p.Ile1000LeufsTer16)
c.*2712_*2733del (n.*2712_*2733del)
c.2815_2836del (p.Ile939LeufsTer16)
c.*1298_*1319del (n.*1298_*1319del)
c.*2822_*2843del (n.*2822_*2843del)
c.2572_2593del (p.Ile858LeufsTer16)
c.589_610del (p.Ile197LeufsTer16)
c.648_669del
c.1780_1801del (p.Ile594LeufsTer16)
c.2908_2929del (p.Ile970LeufsTer16)
c.3088_3109del (p.Ile1030LeufsTer16)
c.2755_2776del (p.Ile919LeufsTer16)
 ClinVar dbSNP
7g.117610529T>ACA368990307CFTRc.2999T>A (p.Ile1000Asn)
c.*2713T>A (n.*2713T>A)
c.2816T>A (p.Ile939Asn)
c.*1299T>A (n.*1299T>A)
c.*2823T>A (n.*2823T>A)
c.2573T>A (p.Ile858Asn)
c.590T>A (p.Ile197Asn)
c.649T>A
c.1781T>A (p.Ile594Asn)
c.2909T>A (p.Ile970Asn)
c.3089T>A (p.Ile1030Asn)
c.2756T>A (p.Ile919Asn)
7g.117610529T>CCA368990309CFTRc.2999T>C (p.Ile1000Thr)
c.*2713T>C (n.*2713T>C)
c.2816T>C (p.Ile939Thr)
c.*1299T>C (n.*1299T>C)
c.*2823T>C (n.*2823T>C)
c.2573T>C (p.Ile858Thr)
c.590T>C (p.Ile197Thr)
c.649T>C
c.1781T>C (p.Ile594Thr)
c.2909T>C (p.Ile970Thr)
c.3089T>C (p.Ile1030Thr)
c.2756T>C (p.Ile919Thr)
7g.117610529T>GCA368990311CFTRc.2999T>G (p.Ile1000Ser)
c.*2713T>G (n.*2713T>G)
c.2816T>G (p.Ile939Ser)
c.*1299T>G (n.*1299T>G)
c.*2823T>G (n.*2823T>G)
c.2573T>G (p.Ile858Ser)
c.590T>G (p.Ile197Ser)
c.649T>G
c.1781T>G (p.Ile594Ser)
c.2909T>G (p.Ile970Ser)
c.3089T>G (p.Ile1030Ser)
c.2756T>G (p.Ile919Ser)
7g.117610529_117610531delinsTTGCA1737384690CFTRc.2999_3001delinsTTG (p.Ile1000=)
c.*2713_*2715delinsTTG (n.*2713_*2715delinsTTG)
c.2816_2818delinsTTG (p.Ile939=)
c.*1299_*1301delinsTTG (n.*1299_*1301delinsTTG)
c.*2823_*2825delinsTTG (n.*2823_*2825delinsTTG)
c.2573_2575delinsTTG (p.Ile858=)
c.590_592delinsTTG (p.Ile197=)
c.649_651delinsTTG
c.1781_1783delinsTTG (p.Ile594=)
c.2909_2911delinsTTG (p.Ile970=)
c.3089_3091delinsTTG (p.Ile1030=)
c.2756_2758delinsTTG (p.Ile919=)
7g.117610530T>ACA457229348CFTRc.3000T>A (p.Ile1000=)
c.*2714T>A (n.*2714T>A)
c.2817T>A (p.Ile939=)
c.*1300T>A (n.*1300T>A)
c.*2824T>A (n.*2824T>A)
c.2574T>A (p.Ile858=)
c.591T>A (p.Ile197=)
c.650T>A
c.1782T>A (p.Ile594=)
c.2910T>A (p.Ile970=)
c.3090T>A (p.Ile1030=)
c.2757T>A (p.Ile919=)
7g.117610530T>CCA457229349CFTRc.3000T>C (p.Ile1000=)
c.*2714T>C (n.*2714T>C)
c.2817T>C (p.Ile939=)
c.*1300T>C (n.*1300T>C)
c.*2824T>C (n.*2824T>C)
c.2574T>C (p.Ile858=)
c.591T>C (p.Ile197=)
c.650T>C
c.1782T>C (p.Ile594=)
c.2910T>C (p.Ile970=)
c.3090T>C (p.Ile1030=)
c.2757T>C (p.Ile919=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117610530T>GCA368990315CFTRc.3000T>G (p.Ile1000Met)
c.*2714T>G (n.*2714T>G)
c.2817T>G (p.Ile939Met)
c.*1300T>G (n.*1300T>G)
c.*2824T>G (n.*2824T>G)
c.2574T>G (p.Ile858Met)
c.591T>G (p.Ile197Met)
c.650T>G
c.1782T>G (p.Ile594Met)
c.2910T>G (p.Ile970Met)
c.3090T>G (p.Ile1030Met)
c.2757T>G (p.Ile919Met)
7g.117610530T=CA1737384701CFTRc.3000T= (p.Ile1000=)
c.*2714T= (n.*2714T=)
c.2817T= (p.Ile939=)
c.*1300T= (n.*1300T=)
c.*2824T= (n.*2824T=)
c.2574T= (p.Ile858=)
c.591T= (p.Ile197=)
c.650T=
c.1782T= (p.Ile594=)
c.2910T= (p.Ile970=)
c.3090T= (p.Ile1030=)
c.2757T= (p.Ile919=)
7g.117610532_117610533delCA327007CFTRc.3002_3003del (p.Val1001AspfsTer?)
c.*2716_*2717del (n.*2716_*2717del)
c.2819_2820del (p.Val940AspfsTer?)
c.*1302_*1303del (n.*1302_*1303del)
c.*2826_*2827del (n.*2826_*2827del)
c.2576_2577del (p.Val859AspfsTer?)
c.593_594del (p.Val198AspfsTer?)
c.652_653del
c.1784_1785del (p.Val595AspfsTer?)
c.2912_2913del (p.Val971AspfsTer?)
c.3092_3093del (p.Val1031AspfsTer?)
c.2759_2760del (p.Val920AspfsTer?)
 ClinVar dbSNP gnomAD v4
7g.117610531G>ACA164965069CFTRc.3001G>A (p.Val1001Met)
c.*2715G>A (n.*2715G>A)
c.2818G>A (p.Val940Met)
c.*1301G>A (n.*1301G>A)
c.*2825G>A (n.*2825G>A)
c.2575G>A (p.Val859Met)
c.592G>A (p.Val198Met)
c.651G>A
c.1783G>A (p.Val595Met)
c.2911G>A (p.Val971Met)
c.3091G>A (p.Val1031Met)
c.2758G>A (p.Val920Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117610531G>CCA4451362CFTRc.3001G>C (p.Val1001Leu)
c.*2715G>C (n.*2715G>C)
c.2818G>C (p.Val940Leu)
c.*1301G>C (n.*1301G>C)
c.*2825G>C (n.*2825G>C)
c.2575G>C (p.Val859Leu)
c.592G>C (p.Val198Leu)
c.651G>C
c.1783G>C (p.Val595Leu)
c.2911G>C (p.Val971Leu)
c.3091G>C (p.Val1031Leu)
c.2758G>C (p.Val920Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117610531G=CA1737384713CFTRc.3001G= (p.Val1001=)
c.*2715G= (n.*2715G=)
c.2818G= (p.Val940=)
c.*1301G= (n.*1301G=)
c.*2825G= (n.*2825G=)
c.2575G= (p.Val859=)
c.592G= (p.Val198=)
c.651G=
c.1783G= (p.Val595=)
c.2911G= (p.Val971=)
c.3091G= (p.Val1031=)
c.2758G= (p.Val920=)
7g.117610531G>TCA368990319CFTRc.3001G>T (p.Val1001Leu)
c.*2715G>T (n.*2715G>T)
c.2818G>T (p.Val940Leu)
c.*1301G>T (n.*1301G>T)
c.*2825G>T (n.*2825G>T)
c.2575G>T (p.Val859Leu)
c.592G>T (p.Val198Leu)
c.651G>T
c.1783G>T (p.Val595Leu)
c.2911G>T (p.Val971Leu)
c.3091G>T (p.Val1031Leu)
c.2758G>T (p.Val920Leu)
 gnomAD v4
7g.117610532T>ACA368990325CFTRc.3002T>A (p.Val1001Glu)
c.*2716T>A (n.*2716T>A)
c.2819T>A (p.Val940Glu)
c.*1302T>A (n.*1302T>A)
c.*2826T>A (n.*2826T>A)
c.2576T>A (p.Val859Glu)
c.593T>A (p.Val198Glu)
c.652T>A
c.1784T>A (p.Val595Glu)
c.2912T>A (p.Val971Glu)
c.3092T>A (p.Val1031Glu)
c.2759T>A (p.Val920Glu)
7g.117610532T>CCA368990327CFTRc.3002T>C (p.Val1001Ala)
c.*2716T>C (n.*2716T>C)
c.2819T>C (p.Val940Ala)
c.*1302T>C (n.*1302T>C)
c.*2826T>C (n.*2826T>C)
c.2576T>C (p.Val859Ala)
c.593T>C (p.Val198Ala)
c.652T>C
c.1784T>C (p.Val595Ala)
c.2912T>C (p.Val971Ala)
c.3092T>C (p.Val1031Ala)
c.2759T>C (p.Val920Ala)
7g.117610532T>GCA368990330CFTRc.3002T>G (p.Val1001Gly)
c.*2716T>G (n.*2716T>G)
c.2819T>G (p.Val940Gly)
c.*1302T>G (n.*1302T>G)
c.*2826T>G (n.*2826T>G)
c.2576T>G (p.Val859Gly)
c.593T>G (p.Val198Gly)
c.652T>G
c.1784T>G (p.Val595Gly)
c.2912T>G (p.Val971Gly)
c.3092T>G (p.Val1031Gly)
c.2759T>G (p.Val920Gly)
7g.117610533G>ACA457229350CFTRc.3003G>A (p.Val1001=)
c.*2717G>A (n.*2717G>A)
c.2820G>A (p.Val940=)
c.*1303G>A (n.*1303G>A)
c.*2827G>A (n.*2827G>A)
c.2577G>A (p.Val859=)
c.594G>A (p.Val198=)
c.653G>A
c.1785G>A (p.Val595=)
c.2913G>A (p.Val971=)
c.3093G>A (p.Val1031=)
c.2760G>A (p.Val920=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117610533G>CCA457229351CFTRc.3003G>C (p.Val1001=)
c.*2717G>C (n.*2717G>C)
c.2820G>C (p.Val940=)
c.*1303G>C (n.*1303G>C)
c.*2827G>C (n.*2827G>C)
c.2577G>C (p.Val859=)
c.594G>C (p.Val198=)
c.653G>C
c.1785G>C (p.Val595=)
c.2913G>C (p.Val971=)
c.3093G>C (p.Val1031=)
c.2760G>C (p.Val920=)
7g.117610533G=CA1737384716CFTRc.3003G= (p.Val1001=)
c.*2717G= (n.*2717G=)
c.2820G= (p.Val940=)
c.*1303G= (n.*1303G=)
c.*2827G= (n.*2827G=)
c.2577G= (p.Val859=)
c.594G= (p.Val198=)
c.653G=
c.1785G= (p.Val595=)
c.2913G= (p.Val971=)
c.3093G= (p.Val1031=)
c.2760G= (p.Val920=)
7g.117610533G>TCA457229352CFTRc.3003G>T (p.Val1001=)
c.*2717G>T (n.*2717G>T)
c.2820G>T (p.Val940=)
c.*1303G>T (n.*1303G>T)
c.*2827G>T (n.*2827G>T)
c.2577G>T (p.Val859=)
c.594G>T (p.Val198=)
c.653G>T
c.1785G>T (p.Val595=)
c.2913G>T (p.Val971=)
c.3093G>T (p.Val1031=)
c.2760G>T (p.Val920=)
 ClinVar dbSNP gnomAD v4
7g.117610534A=CA1737384719CFTRc.3004A= (p.Ile1002=)
c.*2718A= (n.*2718A=)
c.2821A= (p.Ile941=)
c.*1304A= (n.*1304A=)
c.*2828A= (n.*2828A=)
c.2578A= (p.Ile860=)
c.595A= (p.Ile199=)
c.654A=
c.1786A= (p.Ile596=)
c.2914A= (p.Ile972=)
c.3094A= (p.Ile1032=)
c.2761A= (p.Ile921=)
7g.117610534A>CCA368990332CFTRc.3004A>C (p.Ile1002Leu)
c.*2718A>C (n.*2718A>C)
c.2821A>C (p.Ile941Leu)
c.*1304A>C (n.*1304A>C)
c.*2828A>C (n.*2828A>C)
c.2578A>C (p.Ile860Leu)
c.595A>C (p.Ile199Leu)
c.654A>C
c.1786A>C (p.Ile596Leu)
c.2914A>C (p.Ile972Leu)
c.3094A>C (p.Ile1032Leu)
c.2761A>C (p.Ile921Leu)
7g.117610534A>GCA368990338CFTRc.3004A>G (p.Ile1002Val)
c.*2718A>G (n.*2718A>G)
c.2821A>G (p.Ile941Val)
c.*1304A>G (n.*1304A>G)
c.*2828A>G (n.*2828A>G)
c.2578A>G (p.Ile860Val)
c.595A>G (p.Ile199Val)
c.654A>G
c.1786A>G (p.Ile596Val)
c.2914A>G (p.Ile972Val)
c.3094A>G (p.Ile1032Val)
c.2761A>G (p.Ile921Val)
7g.117610534A>TCA4451363CFTRc.3004A>T (p.Ile1002Phe)
c.*2718A>T (n.*2718A>T)
c.2821A>T (p.Ile941Phe)
c.*1304A>T (n.*1304A>T)
c.*2828A>T (n.*2828A>T)
c.2578A>T (p.Ile860Phe)
c.595A>T (p.Ile199Phe)
c.654A>T
c.1786A>T (p.Ile596Phe)
c.2914A>T (p.Ile972Phe)
c.3094A>T (p.Ile1032Phe)
c.2761A>T (p.Ile921Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117610535T>ACA368990342CFTRc.3005T>A (p.Ile1002Asn)
c.*2719T>A (n.*2719T>A)
c.2822T>A (p.Ile941Asn)
c.*1305T>A (n.*1305T>A)
c.*2829T>A (n.*2829T>A)
c.2579T>A (p.Ile860Asn)
c.596T>A (p.Ile199Asn)
c.655T>A
c.1787T>A (p.Ile596Asn)
c.2915T>A (p.Ile972Asn)
c.3095T>A (p.Ile1032Asn)
c.2762T>A (p.Ile921Asn)
7g.117610535T>CCA368990346CFTRc.3005T>C (p.Ile1002Thr)
c.*2719T>C (n.*2719T>C)
c.2822T>C (p.Ile941Thr)
c.*1305T>C (n.*1305T>C)
c.*2829T>C (n.*2829T>C)
c.2579T>C (p.Ile860Thr)
c.596T>C (p.Ile199Thr)
c.655T>C
c.1787T>C (p.Ile596Thr)
c.2915T>C (p.Ile972Thr)
c.3095T>C (p.Ile1032Thr)
c.2762T>C (p.Ile921Thr)
 ClinVar dbSNP
7g.117610535T>GCA368990343CFTRc.3005T>G (p.Ile1002Ser)
c.*2719T>G (n.*2719T>G)
c.2822T>G (p.Ile941Ser)
c.*1305T>G (n.*1305T>G)
c.*2829T>G (n.*2829T>G)
c.2579T>G (p.Ile860Ser)
c.596T>G (p.Ile199Ser)
c.655T>G
c.1787T>G (p.Ile596Ser)
c.2915T>G (p.Ile972Ser)
c.3095T>G (p.Ile1032Ser)
c.2762T>G (p.Ile921Ser)
7g.117610535T=CA1737384722CFTRc.3005T= (p.Ile1002=)
c.*2719T= (n.*2719T=)
c.2822T= (p.Ile941=)
c.*1305T= (n.*1305T=)
c.*2829T= (n.*2829T=)
c.2579T= (p.Ile860=)
c.596T= (p.Ile199=)
c.655T=
c.1787T= (p.Ile596=)
c.2915T= (p.Ile972=)
c.3095T= (p.Ile1032=)
c.2762T= (p.Ile921=)
7g.117610536T>ACA457229353CFTRc.3006T>A (p.Ile1002=)
c.*2720T>A (n.*2720T>A)
c.2823T>A (p.Ile941=)
c.*1306T>A (n.*1306T>A)
c.*2830T>A (n.*2830T>A)
c.2580T>A (p.Ile860=)
c.597T>A (p.Ile199=)
c.656T>A
c.1788T>A (p.Ile596=)
c.2916T>A (p.Ile972=)
c.3096T>A (p.Ile1032=)
c.2763T>A (p.Ile921=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117610536T>CCA457229354CFTRc.3006T>C (p.Ile1002=)
c.*2720T>C (n.*2720T>C)
c.2823T>C (p.Ile941=)
c.*1306T>C (n.*1306T>C)
c.*2830T>C (n.*2830T>C)
c.2580T>C (p.Ile860=)
c.597T>C (p.Ile199=)
c.656T>C
c.1788T>C (p.Ile596=)
c.2916T>C (p.Ile972=)
c.3096T>C (p.Ile1032=)
c.2763T>C (p.Ile921=)
7g.117610536T>GCA368990348CFTRc.3006T>G (p.Ile1002Met)
c.*2720T>G (n.*2720T>G)
c.2823T>G (p.Ile941Met)
c.*1306T>G (n.*1306T>G)
c.*2830T>G (n.*2830T>G)
c.2580T>G (p.Ile860Met)
c.597T>G (p.Ile199Met)
c.656T>G
c.1788T>G (p.Ile596Met)
c.2916T>G (p.Ile972Met)
c.3096T>G (p.Ile1032Met)
c.2763T>G (p.Ile921Met)
7g.117610536T=CA1737384726CFTRc.3006T= (p.Ile1002=)
c.*2720T= (n.*2720T=)
c.2823T= (p.Ile941=)
c.*1306T= (n.*1306T=)
c.*2830T= (n.*2830T=)
c.2580T= (p.Ile860=)
c.597T= (p.Ile199=)
c.656T=
c.1788T= (p.Ile596=)
c.2916T= (p.Ile972=)
c.3096T= (p.Ile1032=)
c.2763T= (p.Ile921=)
7g.117610537G>ACA368990351CFTRc.3007G>A (p.Gly1003Arg)
c.*2721G>A (n.*2721G>A)
c.2824G>A (p.Gly942Arg)
c.*1307G>A (n.*1307G>A)
c.*2831G>A (n.*2831G>A)
c.2581G>A (p.Gly861Arg)
c.598G>A (p.Gly200Arg)
c.657G>A
c.1789G>A (p.Gly597Arg)
c.2917G>A (p.Gly973Arg)
c.3097G>A (p.Gly1033Arg)
c.2764G>A (p.Gly922Arg)
 ClinVar
7g.117610537G>CCA368990353CFTRc.3007G>C (p.Gly1003Arg)
c.*2721G>C (n.*2721G>C)
c.2824G>C (p.Gly942Arg)
c.*1307G>C (n.*1307G>C)
c.*2831G>C (n.*2831G>C)
c.2581G>C (p.Gly861Arg)
c.598G>C (p.Gly200Arg)
c.657G>C
c.1789G>C (p.Gly597Arg)
c.2917G>C (p.Gly973Arg)
c.3097G>C (p.Gly1033Arg)
c.2764G>C (p.Gly922Arg)
7g.117610537G=CA1737384733CFTRc.3007G= (p.Gly1003=)
c.*2721G= (n.*2721G=)
c.2824G= (p.Gly942=)
c.*1307G= (n.*1307G=)
c.*2831G= (n.*2831G=)
c.2581G= (p.Gly861=)
c.598G= (p.Gly200=)
c.657G=
c.1789G= (p.Gly597=)
c.2917G= (p.Gly973=)
c.3097G= (p.Gly1033=)
c.2764G= (p.Gly922=)
7g.117610537G>TCA327008CFTRc.3007G>T (p.Gly1003Ter)
c.*2721G>T (n.*2721G>T)
c.2824G>T (p.Gly942Ter)
c.*1307G>T (n.*1307G>T)
c.*2831G>T (n.*2831G>T)
c.2581G>T (p.Gly861Ter)
c.598G>T (p.Gly200Ter)
c.657G>T
c.1789G>T (p.Gly597Ter)
c.2917G>T (p.Gly973Ter)
c.3097G>T (p.Gly1033Ter)
c.2764G>T (p.Gly922Ter)
 ClinVar dbSNP
7g.117610538G>ACA327010CFTRc.3008G>A (p.Gly1003Glu)
c.*2722G>A (n.*2722G>A)
c.2825G>A (p.Gly942Glu)
c.*1308G>A (n.*1308G>A)
c.*2832G>A (n.*2832G>A)
c.2582G>A (p.Gly861Glu)
c.599G>A (p.Gly200Glu)
c.658G>A
c.1790G>A (p.Gly597Glu)
c.2918G>A (p.Gly973Glu)
c.3098G>A (p.Gly1033Glu)
c.2765G>A (p.Gly922Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117610538G>CCA368990367CFTRc.3008G>C (p.Gly1003Ala)
c.*2722G>C (n.*2722G>C)
c.2825G>C (p.Gly942Ala)
c.*1308G>C (n.*1308G>C)
c.*2832G>C (n.*2832G>C)
c.2582G>C (p.Gly861Ala)
c.599G>C (p.Gly200Ala)
c.658G>C
c.1790G>C (p.Gly597Ala)
c.2918G>C (p.Gly973Ala)
c.3098G>C (p.Gly1033Ala)
c.2765G>C (p.Gly922Ala)
7g.117610538G=CA1737384740CFTRc.3008G= (p.Gly1003=)
c.*2722G= (n.*2722G=)
c.2825G= (p.Gly942=)
c.*1308G= (n.*1308G=)
c.*2832G= (n.*2832G=)
c.2582G= (p.Gly861=)
c.599G= (p.Gly200=)
c.658G=
c.1790G= (p.Gly597=)
c.2918G= (p.Gly973=)
c.3098G= (p.Gly1033=)
c.2765G= (p.Gly922=)
7g.117610538G>TCA368990364CFTRc.3008G>T (p.Gly1003Val)
c.*2722G>T (n.*2722G>T)
c.2825G>T (p.Gly942Val)
c.*1308G>T (n.*1308G>T)
c.*2832G>T (n.*2832G>T)
c.2582G>T (p.Gly861Val)
c.599G>T (p.Gly200Val)
c.658G>T
c.1790G>T (p.Gly597Val)
c.2918G>T (p.Gly973Val)
c.3098G>T (p.Gly1033Val)
c.2765G>T (p.Gly922Val)
7g.117610538_117610547delinsGAGCTATAGCCA1737384742CFTRc.3008_3017delinsGAGCTATAGC (p.Gly1003=)
c.*2722_*2731delinsGAGCTATAGC (n.*2722_*2731delinsGAGCTATAGC)
c.2825_2834delinsGAGCTATAGC (p.Gly942=)
c.*1308_*1317delinsGAGCTATAGC (n.*1308_*1317delinsGAGCTATAGC)
c.*2832_*2841delinsGAGCTATAGC (n.*2832_*2841delinsGAGCTATAGC)
c.2582_2591delinsGAGCTATAGC (p.Gly861=)
c.599_608delinsGAGCTATAGC (p.Gly200=)
c.658_667delinsGAGCTATAGC
c.1790_1799delinsGAGCTATAGC (p.Gly597=)
c.2918_2927delinsGAGCTATAGC (p.Gly973=)
c.3098_3107delinsGAGCTATAGC (p.Gly1033=)
c.2765_2774delinsGAGCTATAGC (p.Gly922=)
7g.117610539A>CCA457229355CFTRc.3009A>C (p.Gly1003=)
c.*2723A>C (n.*2723A>C)
c.2826A>C (p.Gly942=)
c.*1309A>C (n.*1309A>C)
c.*2833A>C (n.*2833A>C)
c.2583A>C (p.Gly861=)
c.600A>C (p.Gly200=)
c.659A>C
c.1791A>C (p.Gly597=)
c.2919A>C (p.Gly973=)
c.3099A>C (p.Gly1033=)
c.2766A>C (p.Gly922=)
 ClinVar
7g.117610539A>GCA457229356CFTRc.3009A>G (p.Gly1003=)
c.*2723A>G (n.*2723A>G)
c.2826A>G (p.Gly942=)
c.*1309A>G (n.*1309A>G)
c.*2833A>G (n.*2833A>G)
c.2583A>G (p.Gly861=)
c.600A>G (p.Gly200=)
c.659A>G
c.1791A>G (p.Gly597=)
c.2919A>G (p.Gly973=)
c.3099A>G (p.Gly1033=)
c.2766A>G (p.Gly922=)
7g.117610539A>TCA457229357CFTRc.3009A>T (p.Gly1003=)
c.*2723A>T (n.*2723A>T)
c.2826A>T (p.Gly942=)
c.*1309A>T (n.*1309A>T)
c.*2833A>T (n.*2833A>T)
c.2583A>T (p.Gly861=)
c.600A>T (p.Gly200=)
c.659A>T
c.1791A>T (p.Gly597=)
c.2919A>T (p.Gly973=)
c.3099A>T (p.Gly1033=)
c.2766A>T (p.Gly922=)
7g.117610541_117610549delCA913189832CFTRc.3011_3019del (p.Ala1004_Ala1006del)
c.*2725_*2733del (n.*2725_*2733del)
c.2828_2836del (p.Ala943_Ala945del)
c.*1311_*1319del (n.*1311_*1319del)
c.*2835_*2843del (n.*2835_*2843del)
c.2585_2593del (p.Ala862_Ala864del)
c.602_610del (p.Ala201_Ala203del)
c.661_669del
c.1793_1801del (p.Ala598_Ala600del)
c.2921_2929del (p.Ala974_Ala976del)
c.3101_3109del (p.Ala1034_Ala1036del)
c.2768_2776del (p.Ala923_Ala925del)
 ClinVar dbSNP gnomAD v4
7g.117610540G>ACA368990371CFTRc.3010G>A (p.Ala1004Thr)
c.*2724G>A (n.*2724G>A)
c.2827G>A (p.Ala943Thr)
c.*1310G>A (n.*1310G>A)
c.*2834G>A (n.*2834G>A)
c.2584G>A (p.Ala862Thr)
c.601G>A (p.Ala201Thr)
c.660G>A
c.1792G>A (p.Ala598Thr)
c.2920G>A (p.Ala974Thr)
c.3100G>A (p.Ala1034Thr)
c.2767G>A (p.Ala923Thr)
7g.117610540G>CCA368990374CFTRc.3010G>C (p.Ala1004Pro)
c.*2724G>C (n.*2724G>C)
c.2827G>C (p.Ala943Pro)
c.*1310G>C (n.*1310G>C)
c.*2834G>C (n.*2834G>C)
c.2584G>C (p.Ala862Pro)
c.601G>C (p.Ala201Pro)
c.660G>C
c.1792G>C (p.Ala598Pro)
c.2920G>C (p.Ala974Pro)
c.3100G>C (p.Ala1034Pro)
c.2767G>C (p.Ala923Pro)
7g.117610540G>TCA368990375CFTRc.3010G>T (p.Ala1004Ser)
c.*2724G>T (n.*2724G>T)
c.2827G>T (p.Ala943Ser)
c.*1310G>T (n.*1310G>T)
c.*2834G>T (n.*2834G>T)
c.2584G>T (p.Ala862Ser)
c.601G>T (p.Ala201Ser)
c.660G>T
c.1792G>T (p.Ala598Ser)
c.2920G>T (p.Ala974Ser)
c.3100G>T (p.Ala1034Ser)
c.2767G>T (p.Ala923Ser)
7g.117610540_117610541delinsGCCA1737384752CFTRc.3010_3011delinsGC (p.Ala1004=)
c.*2724_*2725delinsGC (n.*2724_*2725delinsGC)
c.2827_2828delinsGC (p.Ala943=)
c.*1310_*1311delinsGC (n.*1310_*1311delinsGC)
c.*2834_*2835delinsGC (n.*2834_*2835delinsGC)
c.2584_2585delinsGC (p.Ala862=)
c.601_602delinsGC (p.Ala201=)
c.660_661delinsGC
c.1792_1793delinsGC (p.Ala598=)
c.2920_2921delinsGC (p.Ala974=)
c.3100_3101delinsGC (p.Ala1034=)
c.2767_2768delinsGC (p.Ala923=)
7g.117610541delCA913189833CFTRc.3011del (p.Ala1004ValfsTer2)
c.*2725del (n.*2725del)
c.2828del (p.Ala943ValfsTer2)
c.*1311del (n.*1311del)
c.*2835del (n.*2835del)
c.2585del (p.Ala862ValfsTer2)
c.602del (p.Ala201ValfsTer2)
c.661del
c.1793del (p.Ala598ValfsTer2)
c.2921del (p.Ala974ValfsTer2)
c.3101del (p.Ala1034ValfsTer2)
c.2768del (p.Ala923ValfsTer2)
 ClinVar dbSNP
7g.117610541C>ACA368990381CFTRc.3011C>A (p.Ala1004Asp)
c.*2725C>A (n.*2725C>A)
c.2828C>A (p.Ala943Asp)
c.*1311C>A (n.*1311C>A)
c.*2835C>A (n.*2835C>A)
c.2585C>A (p.Ala862Asp)
c.602C>A (p.Ala201Asp)
c.661C>A
c.1793C>A (p.Ala598Asp)
c.2921C>A (p.Ala974Asp)
c.3101C>A (p.Ala1034Asp)
c.2768C>A (p.Ala923Asp)
7g.117610541C=CA1737384759CFTRc.3011C= (p.Ala1004=)
c.*2725C= (n.*2725C=)
c.2828C= (p.Ala943=)
c.*1311C= (n.*1311C=)
c.*2835C= (n.*2835C=)
c.2585C= (p.Ala862=)
c.602C= (p.Ala201=)
c.661C=
c.1793C= (p.Ala598=)
c.2921C= (p.Ala974=)
c.3101C= (p.Ala1034=)
c.2768C= (p.Ala923=)
7g.117610541C>GCA501096CFTRc.3011C>G (p.Ala1004Gly)
c.*2725C>G (n.*2725C>G)
c.2828C>G (p.Ala943Gly)
c.*1311C>G (n.*1311C>G)
c.*2835C>G (n.*2835C>G)
c.2585C>G (p.Ala862Gly)
c.602C>G (p.Ala201Gly)
c.661C>G
c.1793C>G (p.Ala598Gly)
c.2921C>G (p.Ala974Gly)
c.3101C>G (p.Ala1034Gly)
c.2768C>G (p.Ala923Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117610541C>TCA368990388CFTRc.3011C>T (p.Ala1004Val)
c.*2725C>T (n.*2725C>T)
c.2828C>T (p.Ala943Val)
c.*1311C>T (n.*1311C>T)
c.*2835C>T (n.*2835C>T)
c.2585C>T (p.Ala862Val)
c.602C>T (p.Ala201Val)
c.661C>T
c.1793C>T (p.Ala598Val)
c.2921C>T (p.Ala974Val)
c.3101C>T (p.Ala1034Val)
c.2768C>T (p.Ala923Val)
7g.117610542T>ACA457229359CFTRc.3012T>A (p.Ala1004=)
c.*2726T>A (n.*2726T>A)
c.2829T>A (p.Ala943=)
c.*1312T>A (n.*1312T>A)
c.*2836T>A (n.*2836T>A)
c.2586T>A (p.Ala862=)
c.603T>A (p.Ala201=)
c.662T>A
c.1794T>A (p.Ala598=)
c.2922T>A (p.Ala974=)
c.3102T>A (p.Ala1034=)
c.2769T>A (p.Ala923=)
7g.117610542T>CCA457229361CFTRc.3012T>C (p.Ala1004=)
c.*2726T>C (n.*2726T>C)
c.2829T>C (p.Ala943=)
c.*1312T>C (n.*1312T>C)
c.*2836T>C (n.*2836T>C)
c.2586T>C (p.Ala862=)
c.603T>C (p.Ala201=)
c.662T>C
c.1794T>C (p.Ala598=)
c.2922T>C (p.Ala974=)
c.3102T>C (p.Ala1034=)
c.2769T>C (p.Ala923=)
7g.117610542T>GCA457229360CFTRc.3012T>G (p.Ala1004=)
c.*2726T>G (n.*2726T>G)
c.2829T>G (p.Ala943=)
c.*1312T>G (n.*1312T>G)
c.*2836T>G (n.*2836T>G)
c.2586T>G (p.Ala862=)
c.603T>G (p.Ala201=)
c.662T>G
c.1794T>G (p.Ala598=)
c.2922T>G (p.Ala974=)
c.3102T>G (p.Ala1034=)
c.2769T>G (p.Ala923=)
7g.117610543A=CA1737384765CFTRc.3013A= (p.Ile1005=)
c.*2727A= (n.*2727A=)
c.2830A= (p.Ile944=)
c.*1313A= (n.*1313A=)
c.*2837A= (n.*2837A=)
c.2587A= (p.Ile863=)
c.604A= (p.Ile202=)
c.663A=
c.1795A= (p.Ile599=)
c.2923A= (p.Ile975=)
c.3103A= (p.Ile1035=)
c.2770A= (p.Ile924=)
7g.117610543A>CCA368990394CFTRc.3013A>C (p.Ile1005Leu)
c.*2727A>C (n.*2727A>C)
c.2830A>C (p.Ile944Leu)
c.*1313A>C (n.*1313A>C)
c.*2837A>C (n.*2837A>C)
c.2587A>C (p.Ile863Leu)
c.604A>C (p.Ile202Leu)
c.663A>C
c.1795A>C (p.Ile599Leu)
c.2923A>C (p.Ile975Leu)
c.3103A>C (p.Ile1035Leu)
c.2770A>C (p.Ile924Leu)
7g.117610543A>GCA368990397CFTRc.3013A>G (p.Ile1005Val)
c.*2727A>G (n.*2727A>G)
c.2830A>G (p.Ile944Val)
c.*1313A>G (n.*1313A>G)
c.*2837A>G (n.*2837A>G)
c.2587A>G (p.Ile863Val)
c.604A>G (p.Ile202Val)
c.663A>G
c.1795A>G (p.Ile599Val)
c.2923A>G (p.Ile975Val)
c.3103A>G (p.Ile1035Val)
c.2770A>G (p.Ile924Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117610543A>TCA368990399CFTRc.3013A>T (p.Ile1005Leu)
c.*2727A>T (n.*2727A>T)
c.2830A>T (p.Ile944Leu)
c.*1313A>T (n.*1313A>T)
c.*2837A>T (n.*2837A>T)
c.2587A>T (p.Ile863Leu)
c.604A>T (p.Ile202Leu)
c.663A>T
c.1795A>T (p.Ile599Leu)
c.2923A>T (p.Ile975Leu)
c.3103A>T (p.Ile1035Leu)
c.2770A>T (p.Ile924Leu)
7g.117610544T>ACA368990402CFTRc.3014T>A (p.Ile1005Lys)
c.*2728T>A (n.*2728T>A)
c.2831T>A (p.Ile944Lys)
c.*1314T>A (n.*1314T>A)
c.*2838T>A (n.*2838T>A)
c.2588T>A (p.Ile863Lys)
c.605T>A (p.Ile202Lys)
c.664T>A
c.1796T>A (p.Ile599Lys)
c.2924T>A (p.Ile975Lys)
c.3104T>A (p.Ile1035Lys)
c.2771T>A (p.Ile924Lys)
7g.117610544T>CCA368990413CFTRc.3014T>C (p.Ile1005Thr)
c.*2728T>C (n.*2728T>C)
c.2831T>C (p.Ile944Thr)
c.*1314T>C (n.*1314T>C)
c.*2838T>C (n.*2838T>C)
c.2588T>C (p.Ile863Thr)
c.605T>C (p.Ile202Thr)
c.664T>C
c.1796T>C (p.Ile599Thr)
c.2924T>C (p.Ile975Thr)
c.3104T>C (p.Ile1035Thr)
c.2771T>C (p.Ile924Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117610544T>GCA327012CFTRc.3014T>G (p.Ile1005Arg)
c.*2728T>G (n.*2728T>G)
c.2831T>G (p.Ile944Arg)
c.*1314T>G (n.*1314T>G)
c.*2838T>G (n.*2838T>G)
c.2588T>G (p.Ile863Arg)
c.605T>G (p.Ile202Arg)
c.664T>G
c.1796T>G (p.Ile599Arg)
c.2924T>G (p.Ile975Arg)
c.3104T>G (p.Ile1035Arg)
c.2771T>G (p.Ile924Arg)
 ClinVar dbSNP ExAC
7g.117610544T=CA1737384770CFTRc.3014T= (p.Ile1005=)
c.*2728T= (n.*2728T=)
c.2831T= (p.Ile944=)
c.*1314T= (n.*1314T=)
c.*2838T= (n.*2838T=)
c.2588T= (p.Ile863=)
c.605T= (p.Ile202=)
c.664T=
c.1796T= (p.Ile599=)
c.2924T= (p.Ile975=)
c.3104T= (p.Ile1035=)
c.2771T= (p.Ile924=)
7g.117610544dupCA916082312CFTRc.3014dup (p.Ala1006SerfsTer?)
c.*2728dup (n.*2728dup)
c.2831dup (p.Ala945SerfsTer?)
c.*1314dup (n.*1314dup)
c.*2838dup (n.*2838dup)
c.2588dup (p.Ala864SerfsTer?)
c.605dup (p.Ala203SerfsTer?)
c.664dup
c.1796dup (p.Ala600SerfsTer?)
c.2924dup (p.Ala976SerfsTer?)
c.3104dup (p.Ala1036SerfsTer?)
c.2771dup (p.Ala925SerfsTer?)
 ClinVar dbSNP
7g.117610545A>CCA457229362CFTRc.3015A>C (p.Ile1005=)
c.*2729A>C (n.*2729A>C)
c.2832A>C (p.Ile944=)
c.*1315A>C (n.*1315A>C)
c.*2839A>C (n.*2839A>C)
c.2589A>C (p.Ile863=)
c.606A>C (p.Ile202=)
c.665A>C
c.1797A>C (p.Ile599=)
c.2925A>C (p.Ile975=)
c.3105A>C (p.Ile1035=)
c.2772A>C (p.Ile924=)
7g.117610545A>GCA368990419CFTRc.3015A>G (p.Ile1005Met)
c.*2729A>G (n.*2729A>G)
c.2832A>G (p.Ile944Met)
c.*1315A>G (n.*1315A>G)
c.*2839A>G (n.*2839A>G)
c.2589A>G (p.Ile863Met)
c.606A>G (p.Ile202Met)
c.665A>G
c.1797A>G (p.Ile599Met)
c.2925A>G (p.Ile975Met)
c.3105A>G (p.Ile1035Met)
c.2772A>G (p.Ile924Met)
7g.117610545A>TCA457229363CFTRc.3015A>T (p.Ile1005=)
c.*2729A>T (n.*2729A>T)
c.2832A>T (p.Ile944=)
c.*1315A>T (n.*1315A>T)
c.*2839A>T (n.*2839A>T)
c.2589A>T (p.Ile863=)
c.606A>T (p.Ile202=)
c.665A>T
c.1797A>T (p.Ile599=)
c.2925A>T (p.Ile975=)
c.3105A>T (p.Ile1035=)
c.2772A>T (p.Ile924=)
7g.117610546G>ACA4451364CFTRc.3016G>A (p.Ala1006Thr)
c.*2730G>A (n.*2730G>A)
c.2833G>A (p.Ala945Thr)
c.*1316G>A (n.*1316G>A)
c.*2840G>A (n.*2840G>A)
c.2590G>A (p.Ala864Thr)
c.607G>A (p.Ala203Thr)
c.666G>A
c.1798G>A (p.Ala600Thr)
c.2926G>A (p.Ala976Thr)
c.3106G>A (p.Ala1036Thr)
c.2773G>A (p.Ala925Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117610546G>CCA368990422CFTRc.3016G>C (p.Ala1006Pro)
c.*2730G>C (n.*2730G>C)
c.2833G>C (p.Ala945Pro)
c.*1316G>C (n.*1316G>C)
c.*2840G>C (n.*2840G>C)
c.2590G>C (p.Ala864Pro)
c.607G>C (p.Ala203Pro)
c.666G>C
c.1798G>C (p.Ala600Pro)
c.2926G>C (p.Ala976Pro)
c.3106G>C (p.Ala1036Pro)
c.2773G>C (p.Ala925Pro)
7g.117610546G=CA1737384781CFTRc.3016G= (p.Ala1006=)
c.*2730G= (n.*2730G=)
c.2833G= (p.Ala945=)
c.*1316G= (n.*1316G=)
c.*2840G= (n.*2840G=)
c.2590G= (p.Ala864=)
c.607G= (p.Ala203=)
c.666G=
c.1798G= (p.Ala600=)
c.2926G= (p.Ala976=)
c.3106G= (p.Ala1036=)
c.2773G= (p.Ala925=)
7g.117610546G>TCA368990425CFTRc.3016G>T (p.Ala1006Ser)
c.*2730G>T (n.*2730G>T)
c.2833G>T (p.Ala945Ser)
c.*1316G>T (n.*1316G>T)
c.*2840G>T (n.*2840G>T)
c.2590G>T (p.Ala864Ser)
c.607G>T (p.Ala203Ser)
c.666G>T
c.1798G>T (p.Ala600Ser)
c.2926G>T (p.Ala976Ser)
c.3106G>T (p.Ala1036Ser)
c.2773G>T (p.Ala925Ser)
7g.117610547C>ACA327013CFTRc.3017C>A (p.Ala1006Glu)
c.*2731C>A (n.*2731C>A)
c.2834C>A (p.Ala945Glu)
c.*1317C>A (n.*1317C>A)
c.*2841C>A (n.*2841C>A)
c.2591C>A (p.Ala864Glu)
c.608C>A (p.Ala203Glu)
c.667C>A
c.1799C>A (p.Ala600Glu)
c.2927C>A (p.Ala976Glu)
c.3107C>A (p.Ala1036Glu)
c.2774C>A (p.Ala925Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117610547C=CA1737384786CFTRc.3017C= (p.Ala1006=)
c.*2731C= (n.*2731C=)
c.2834C= (p.Ala945=)
c.*1317C= (n.*1317C=)
c.*2841C= (n.*2841C=)
c.2591C= (p.Ala864=)
c.608C= (p.Ala203=)
c.667C=
c.1799C= (p.Ala600=)
c.2927C= (p.Ala976=)
c.3107C= (p.Ala1036=)
c.2774C= (p.Ala925=)
7g.117610547C>GCA368990430CFTRc.3017C>G (p.Ala1006Gly)
c.*2731C>G (n.*2731C>G)
c.2834C>G (p.Ala945Gly)
c.*1317C>G (n.*1317C>G)
c.*2841C>G (n.*2841C>G)
c.2591C>G (p.Ala864Gly)
c.608C>G (p.Ala203Gly)
c.667C>G
c.1799C>G (p.Ala600Gly)
c.2927C>G (p.Ala976Gly)
c.3107C>G (p.Ala1036Gly)
c.2774C>G (p.Ala925Gly)
7g.117610547C>TCA368990431CFTRc.3017C>T (p.Ala1006Val)
c.*2731C>T (n.*2731C>T)
c.2834C>T (p.Ala945Val)
c.*1317C>T (n.*1317C>T)
c.*2841C>T (n.*2841C>T)
c.2591C>T (p.Ala864Val)
c.608C>T (p.Ala203Val)
c.667C>T
c.1799C>T (p.Ala600Val)
c.2927C>T (p.Ala976Val)
c.3107C>T (p.Ala1036Val)
c.2774C>T (p.Ala925Val)
7g.117610548A>CCA457229364CFTRc.3018A>C (p.Ala1006=)
c.*2732A>C (n.*2732A>C)
c.2835A>C (p.Ala945=)
c.*1318A>C (n.*1318A>C)
c.*2842A>C (n.*2842A>C)
c.2592A>C (p.Ala864=)
c.609A>C (p.Ala203=)
c.668A>C
c.1800A>C (p.Ala600=)
c.2928A>C (p.Ala976=)
c.3108A>C (p.Ala1036=)
c.2775A>C (p.Ala925=)
7g.117610548A>GCA457229365CFTRc.3018A>G (p.Ala1006=)
c.*2732A>G (n.*2732A>G)
c.2835A>G (p.Ala945=)
c.*1318A>G (n.*1318A>G)
c.*2842A>G (n.*2842A>G)
c.2592A>G (p.Ala864=)
c.609A>G (p.Ala203=)
c.668A>G
c.1800A>G (p.Ala600=)
c.2928A>G (p.Ala976=)
c.3108A>G (p.Ala1036=)
c.2775A>G (p.Ala925=)
7g.117610548A>TCA457229366CFTRc.3018A>T (p.Ala1006=)
c.*2732A>T (n.*2732A>T)
c.2835A>T (p.Ala945=)
c.*1318A>T (n.*1318A>T)
c.*2842A>T (n.*2842A>T)
c.2592A>T (p.Ala864=)
c.609A>T (p.Ala203=)
c.668A>T
c.1800A>T (p.Ala600=)
c.2928A>T (p.Ala976=)
c.3108A>T (p.Ala1036=)
c.2775A>T (p.Ala925=)
7g.117610549G>ACA368990434CFTRc.3019G>A (p.Val1007Ile)
c.*2733G>A (n.*2733G>A)
c.2836G>A (p.Val946Ile)
c.*1319G>A (n.*1319G>A)
c.*2843G>A (n.*2843G>A)
c.2593G>A (p.Val865Ile)
c.610G>A (p.Val204Ile)
c.669G>A
c.1801G>A (p.Val601Ile)
c.2929G>A (p.Val977Ile)
c.3109G>A (p.Val1037Ile)
c.2776G>A (p.Val926Ile)
7g.117610549G>CCA368990436CFTRc.3019G>C (p.Val1007Leu)
c.*2733G>C (n.*2733G>C)
c.2836G>C (p.Val946Leu)
c.*1319G>C (n.*1319G>C)
c.*2843G>C (n.*2843G>C)
c.2593G>C (p.Val865Leu)
c.610G>C (p.Val204Leu)
c.669G>C
c.1801G>C (p.Val601Leu)
c.2929G>C (p.Val977Leu)
c.3109G>C (p.Val1037Leu)
c.2776G>C (p.Val926Leu)
7g.117610549G>TCA368990439CFTRc.3019G>T (p.Val1007Phe)
c.*2733G>T (n.*2733G>T)
c.2836G>T (p.Val946Phe)
c.*1319G>T (n.*1319G>T)
c.*2843G>T (n.*2843G>T)
c.2593G>T (p.Val865Phe)
c.610G>T (p.Val204Phe)
c.669G>T
c.1801G>T (p.Val601Phe)
c.2929G>T (p.Val977Phe)
c.3109G>T (p.Val1037Phe)
c.2776G>T (p.Val926Phe)
7g.117610549_117610550delinsGTCA1737384790CFTRc.3019_3020delinsGT (p.Val1007=)
c.*2733_*2734delinsGT (n.*2733_*2734delinsGT)
c.2836_2837delinsGT (p.Val946=)
c.*1319_*1320delinsGT (n.*1319_*1320delinsGT)
c.*2843_*2844delinsGT (n.*2843_*2844delinsGT)
c.2593_2594delinsGT (p.Val865=)
c.610_611delinsGT (p.Val204=)
c.669_670delinsGT
c.1801_1802delinsGT (p.Val601=)
c.2929_2930delinsGT (p.Val977=)
c.3109_3110delinsGT (p.Val1037=)
c.2776_2777delinsGT (p.Val926=)
7g.117610550T>ACA368990452CFTRc.3020T>A (p.Val1007Asp)
c.*2734T>A (n.*2734T>A)
c.2837T>A (p.Val946Asp)
c.*1320T>A (n.*1320T>A)
c.*2844T>A (n.*2844T>A)
c.2594T>A (p.Val865Asp)
c.611T>A (p.Val204Asp)
c.670T>A
c.1802T>A (p.Val601Asp)
c.2930T>A (p.Val977Asp)
c.3110T>A (p.Val1037Asp)
c.2777T>A (p.Val926Asp)
7g.117610550T>CCA368990445CFTRc.3020T>C (p.Val1007Ala)
c.*2734T>C (n.*2734T>C)
c.2837T>C (p.Val946Ala)
c.*1320T>C (n.*1320T>C)
c.*2844T>C (n.*2844T>C)
c.2594T>C (p.Val865Ala)
c.611T>C (p.Val204Ala)
c.670T>C
c.1802T>C (p.Val601Ala)
c.2930T>C (p.Val977Ala)
c.3110T>C (p.Val1037Ala)
c.2777T>C (p.Val926Ala)
7g.117610550T>GCA368990449CFTRc.3020T>G (p.Val1007Gly)
c.*2734T>G (n.*2734T>G)
c.2837T>G (p.Val946Gly)
c.*1320T>G (n.*1320T>G)
c.*2844T>G (n.*2844T>G)
c.2594T>G (p.Val865Gly)
c.611T>G (p.Val204Gly)
c.670T>G
c.1802T>G (p.Val601Gly)
c.2930T>G (p.Val977Gly)
c.3110T>G (p.Val1037Gly)
c.2777T>G (p.Val926Gly)
7g.117610551delCA327014CFTRc.3021del (p.Val1008SerfsTer15)
c.*2735del (n.*2735del)
c.2838del (p.Val947SerfsTer15)
c.*1321del (n.*1321del)
c.*2845del (n.*2845del)
c.2595del (p.Val866SerfsTer15)
c.612del (p.Val205SerfsTer15)
c.671del
c.1803del (p.Val602SerfsTer15)
c.2931del (p.Val978SerfsTer15)
c.3111del (p.Val1038SerfsTer15)
c.2778del (p.Val927SerfsTer15)
 ClinVar dbSNP
7g.117610551T>ACA457229367CFTRc.3021T>A (p.Val1007=)
c.*2735T>A (n.*2735T>A)
c.2838T>A (p.Val946=)
c.*1321T>A (n.*1321T>A)
c.*2845T>A (n.*2845T>A)
c.2595T>A (p.Val865=)
c.612T>A (p.Val204=)
c.671T>A
c.1803T>A (p.Val601=)
c.2931T>A (p.Val977=)
c.3111T>A (p.Val1037=)
c.2778T>A (p.Val926=)
7g.117610551T>CCA457229368CFTRc.3021T>C (p.Val1007=)
c.*2735T>C (n.*2735T>C)
c.2838T>C (p.Val946=)
c.*1321T>C (n.*1321T>C)
c.*2845T>C (n.*2845T>C)
c.2595T>C (p.Val865=)
c.612T>C (p.Val204=)
c.671T>C
c.1803T>C (p.Val601=)
c.2931T>C (p.Val977=)
c.3111T>C (p.Val1037=)
c.2778T>C (p.Val926=)
7g.117610551T>GCA457229369CFTRc.3021T>G (p.Val1007=)
c.*2735T>G (n.*2735T>G)
c.2838T>G (p.Val946=)
c.*1321T>G (n.*1321T>G)
c.*2845T>G (n.*2845T>G)
c.2595T>G (p.Val865=)
c.612T>G (p.Val204=)
c.671T>G
c.1803T>G (p.Val601=)
c.2931T>G (p.Val977=)
c.3111T>G (p.Val1037=)
c.2778T>G (p.Val926=)
7g.117610551_117610552delinsTGCA1737384802CFTRc.3021_3022delinsTG (p.Val1007=)
c.*2735_*2736delinsTG (n.*2735_*2736delinsTG)
c.2838_2839delinsTG (p.Val946=)
c.*1321_*1322delinsTG (n.*1321_*1322delinsTG)
c.*2845_*2846delinsTG (n.*2845_*2846delinsTG)
c.2595_2596delinsTG (p.Val865=)
c.612_613delinsTG (p.Val204=)
c.671_672delinsTG
c.1803_1804delinsTG (p.Val601=)
c.2931_2932delinsTG (p.Val977=)
c.3111_3112delinsTG (p.Val1037=)
c.2778_2779delinsTG (p.Val926=)
7g.117610552delCA327015CFTRc.3022del (p.Val1008SerfsTer15)
c.*2736del (n.*2736del)
c.2839del (p.Val947SerfsTer15)
c.*1322del (n.*1322del)
c.*2846del (n.*2846del)
c.2596del (p.Val866SerfsTer15)
c.613del (p.Val205SerfsTer15)
c.672del
c.1804del (p.Val602SerfsTer15)
c.2932del (p.Val978SerfsTer15)
c.3112del (p.Val1038SerfsTer15)
c.2779del (p.Val927SerfsTer15)
 ClinVar dbSNP gnomAD v4
7g.117610552G>ACA368990455CFTRc.3022G>A (p.Val1008Ile)
c.*2736G>A (n.*2736G>A)
c.2839G>A (p.Val947Ile)
c.*1322G>A (n.*1322G>A)
c.*2846G>A (n.*2846G>A)
c.2596G>A (p.Val866Ile)
c.613G>A (p.Val205Ile)
c.672G>A
c.1804G>A (p.Val602Ile)
c.2932G>A (p.Val978Ile)
c.3112G>A (p.Val1038Ile)
c.2779G>A (p.Val927Ile)
7g.117610552G>CCA368990458CFTRc.3022G>C (p.Val1008Leu)
c.*2736G>C (n.*2736G>C)
c.2839G>C (p.Val947Leu)
c.*1322G>C (n.*1322G>C)
c.*2846G>C (n.*2846G>C)
c.2596G>C (p.Val866Leu)
c.613G>C (p.Val205Leu)
c.672G>C
c.1804G>C (p.Val602Leu)
c.2932G>C (p.Val978Leu)
c.3112G>C (p.Val1038Leu)
c.2779G>C (p.Val927Leu)
7g.117610552G>TCA368990460CFTRc.3022G>T (p.Val1008Phe)
c.*2736G>T (n.*2736G>T)
c.2839G>T (p.Val947Phe)
c.*1322G>T (n.*1322G>T)
c.*2846G>T (n.*2846G>T)
c.2596G>T (p.Val866Phe)
c.613G>T (p.Val205Phe)
c.672G>T
c.1804G>T (p.Val602Phe)
c.2932G>T (p.Val978Phe)
c.3112G>T (p.Val1038Phe)
c.2779G>T (p.Val927Phe)
7g.117610553T>ACA327016CFTRc.3023T>A (p.Val1008Asp)
c.*2737T>A (n.*2737T>A)
c.2840T>A (p.Val947Asp)
c.*1323T>A (n.*1323T>A)
c.*2847T>A (n.*2847T>A)
c.2597T>A (p.Val866Asp)
c.614T>A (p.Val205Asp)
c.673T>A
c.1805T>A (p.Val602Asp)
c.2933T>A (p.Val978Asp)
c.3113T>A (p.Val1038Asp)
c.2780T>A (p.Val927Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117610553T>CCA368990468CFTRc.3023T>C (p.Val1008Ala)
c.*2737T>C (n.*2737T>C)
c.2840T>C (p.Val947Ala)
c.*1323T>C (n.*1323T>C)
c.*2847T>C (n.*2847T>C)
c.2597T>C (p.Val866Ala)
c.614T>C (p.Val205Ala)
c.673T>C
c.1805T>C (p.Val602Ala)
c.2933T>C (p.Val978Ala)
c.3113T>C (p.Val1038Ala)
c.2780T>C (p.Val927Ala)
7g.117610553T>GCA368990466CFTRc.3023T>G (p.Val1008Gly)
c.*2737T>G (n.*2737T>G)
c.2840T>G (p.Val947Gly)
c.*1323T>G (n.*1323T>G)
c.*2847T>G (n.*2847T>G)
c.2597T>G (p.Val866Gly)
c.614T>G (p.Val205Gly)
c.673T>G
c.1805T>G (p.Val602Gly)
c.2933T>G (p.Val978Gly)
c.3113T>G (p.Val1038Gly)
c.2780T>G (p.Val927Gly)
7g.117610553T=CA1737384812CFTRc.3023T= (p.Val1008=)
c.*2737T= (n.*2737T=)
c.2840T= (p.Val947=)
c.*1323T= (n.*1323T=)
c.*2847T= (n.*2847T=)
c.2597T= (p.Val866=)
c.614T= (p.Val205=)
c.673T=
c.1805T= (p.Val602=)
c.2933T= (p.Val978=)
c.3113T= (p.Val1038=)
c.2780T= (p.Val927=)
7g.117610554C>ACA457229370CFTRc.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=)
7g.117610554C=CA1737384818CFTRc.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=)
7g.117610554C>GCA457229371CFTRc.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=)
7g.117610554C>TCA241137CFTRc.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
7g.117610555G>ACA241139CFTRc.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
7g.117610555G>CCA368990476CFTRc.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)
7g.117610555G=CA1737384823CFTRc.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=)
7g.117610555G>TCA368990479CFTRc.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
7g.117610556C>ACA368990483CFTRc.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)
7g.117610556C=CA1737384830CFTRc.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=)
7g.117610556C>GCA368990485CFTRc.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)
7g.117610556C>TCA4451365CFTRc.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
7g.117610557A=CA1737384834CFTRc.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=)
7g.117610557A>CCA457229372CFTRc.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=)
7g.117610557A>GCA457229373CFTRc.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
7g.117610557A>TCA457229374CFTRc.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
7g.117610558G>ACA368990489CFTRc.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)
7g.117610558G>CCA368990491CFTRc.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)
7g.117610558G>TCA368990492CFTRc.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)
7g.117610559T>ACA368990499CFTRc.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
7g.117610559T>CCA368990498CFTRc.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)
7g.117610559T>GCA368990495CFTRc.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)
7g.117610562delCA2695208429CFTRc.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)
7g.117610560T>ACA457229375CFTRc.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=)
7g.117610560T>CCA457229376CFTRc.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=)
7g.117610560T>GCA457229377CFTRc.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=)
7g.117610561T>ACA368990503CFTRc.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)
7g.117610561T>CCA457229378CFTRc.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=)
7g.117610561T>GCA368990505CFTRc.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)
7g.117610562T>ACA368990508CFTRc.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)
7g.117610562T>CCA368990510CFTRc.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)
7g.117610562T>GCA368990512CFTRc.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
7g.117610562T=CA1737384841CFTRc.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=)
7g.117610563A=CA1737384845CFTRc.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=)
7g.117610563A>CCA368990519CFTRc.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)
7g.117610563A>GCA4451366CFTRc.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
7g.117610563A>TCA368990515CFTRc.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)
7g.117610563dupCA2695208430CFTRc.3033dup (p.Gln1012ThrfsTer?)
c.*2747dup (n.*2747dup)
c.2850dup (p.Gln951ThrfsTer?)
c.*1333dup (n.*1333dup)
c.*2857dup (n.*2857dup)
c.2607dup (p.Gln870ThrfsTer?)
c.624dup (p.Gln209ThrfsTer?)
c.683dup
c.1815dup (p.Gln606ThrfsTer?)
c.2943dup (p.Gln982ThrfsTer?)
c.3123dup (p.Gln1042ThrfsTer?)
c.2790dup (p.Gln931ThrfsTer?)
7g.117610564C>ACA368990523CFTRc.3034C>A (p.Gln1012Lys)
c.*2748C>A (n.*2748C>A)
c.2851C>A (p.Gln951Lys)
c.*1334C>A (n.*1334C>A)
c.*2858C>A (n.*2858C>A)
c.2608C>A (p.Gln870Lys)
c.625C>A (p.Gln209Lys)
c.684C>A
c.1816C>A (p.Gln606Lys)
c.2944C>A (p.Gln982Lys)
c.3124C>A (p.Gln1042Lys)
c.2791C>A (p.Gln931Lys)
 ClinVar gnomAD v4
7g.117610564C>GCA368990525CFTRc.3034C>G (p.Gln1012Glu)
c.*2748C>G (n.*2748C>G)
c.2851C>G (p.Gln951Glu)
c.*1334C>G (n.*1334C>G)
c.*2858C>G (n.*2858C>G)
c.2608C>G (p.Gln870Glu)
c.625C>G (p.Gln209Glu)
c.684C>G
c.1816C>G (p.Gln606Glu)
c.2944C>G (p.Gln982Glu)
c.3124C>G (p.Gln1042Glu)
c.2791C>G (p.Gln931Glu)
7g.117610564C>TCA368990527CFTRc.3034C>T (p.Gln1012Ter)
c.*2748C>T (n.*2748C>T)
c.2851C>T (p.Gln951Ter)
c.*1334C>T (n.*1334C>T)
c.*2858C>T (n.*2858C>T)
c.2608C>T (p.Gln870Ter)
c.625C>T (p.Gln209Ter)
c.684C>T
c.1816C>T (p.Gln606Ter)
c.2944C>T (p.Gln982Ter)
c.3124C>T (p.Gln1042Ter)
c.2791C>T (p.Gln931Ter)
7g.117610565A=CA1737384848CFTRc.3035A= (p.Gln1012=)
c.*2749A= (n.*2749A=)
c.2852A= (p.Gln951=)
c.*1335A= (n.*1335A=)
c.*2859A= (n.*2859A=)
c.2609A= (p.Gln870=)
c.626A= (p.Gln209=)
c.685A=
c.1817A= (p.Gln606=)
c.2945A= (p.Gln982=)
c.3125A= (p.Gln1042=)
c.2792A= (p.Gln931=)
7g.117610565A>CCA368990530CFTRc.3035A>C (p.Gln1012Pro)
c.*2749A>C (n.*2749A>C)
c.2852A>C (p.Gln951Pro)
c.*1335A>C (n.*1335A>C)
c.*2859A>C (n.*2859A>C)
c.2609A>C (p.Gln870Pro)
c.626A>C (p.Gln209Pro)
c.685A>C
c.1817A>C (p.Gln606Pro)
c.2945A>C (p.Gln982Pro)
c.3125A>C (p.Gln1042Pro)
c.2792A>C (p.Gln931Pro)
 gnomAD v4
7g.117610565A>GCA368990532CFTRc.3035A>G (p.Gln1012Arg)
c.*2749A>G (n.*2749A>G)
c.2852A>G (p.Gln951Arg)
c.*1335A>G (n.*1335A>G)
c.*2859A>G (n.*2859A>G)
c.2609A>G (p.Gln870Arg)
c.626A>G (p.Gln209Arg)
c.685A>G
c.1817A>G (p.Gln606Arg)
c.2945A>G (p.Gln982Arg)
c.3125A>G (p.Gln1042Arg)
c.2792A>G (p.Gln931Arg)
 ClinVar dbSNP
7g.117610565A>TCA368990534CFTRc.3035A>T (p.Gln1012Leu)
c.*2749A>T (n.*2749A>T)
c.2852A>T (p.Gln951Leu)
c.*1335A>T (n.*1335A>T)
c.*2859A>T (n.*2859A>T)
c.2609A>T (p.Gln870Leu)
c.626A>T (p.Gln209Leu)
c.685A>T
c.1817A>T (p.Gln606Leu)
c.2945A>T (p.Gln982Leu)
c.3125A>T (p.Gln1042Leu)
c.2792A>T (p.Gln931Leu)
 gnomAD v4
7g.117610566delCA2684588298CFTRc.3036del (p.Gln1012HisfsTer11)
c.*2750del (n.*2750del)
c.2853del (p.Gln951HisfsTer11)
c.*1336del (n.*1336del)
c.*2860del (n.*2860del)
c.2610del (p.Gln870HisfsTer11)
c.627del (p.Gln209HisfsTer11)
c.686del
c.1818del (p.Gln606HisfsTer11)
c.2946del (p.Gln982HisfsTer11)
c.3126del (p.Gln1042HisfsTer11)
c.2793del (p.Gln931HisfsTer11)
 gnomAD v4
7g.117610566A=CA1737384854CFTRc.3036A= (p.Gln1012=)
c.*2750A= (n.*2750A=)
c.2853A= (p.Gln951=)
c.*1336A= (n.*1336A=)
c.*2860A= (n.*2860A=)
c.2610A= (p.Gln870=)
c.627A= (p.Gln209=)
c.686A=
c.1818A= (p.Gln606=)
c.2946A= (p.Gln982=)
c.3126A= (p.Gln1042=)
c.2793A= (p.Gln931=)
7g.117610566A>CCA368990537CFTRc.3036A>C (p.Gln1012His)
c.*2750A>C (n.*2750A>C)
c.2853A>C (p.Gln951His)
c.*1336A>C (n.*1336A>C)
c.*2860A>C (n.*2860A>C)
c.2610A>C (p.Gln870His)
c.627A>C (p.Gln209His)
c.686A>C
c.1818A>C (p.Gln606His)
c.2946A>C (p.Gln982His)
c.3126A>C (p.Gln1042His)
c.2793A>C (p.Gln931His)
7g.117610566A>GCA4451367CFTRc.3036A>G (p.Gln1012=)
c.*2750A>G (n.*2750A>G)
c.2853A>G (p.Gln951=)
c.*1336A>G (n.*1336A>G)
c.*2860A>G (n.*2860A>G)
c.2610A>G (p.Gln870=)
c.627A>G (p.Gln209=)
c.686A>G
c.1818A>G (p.Gln606=)
c.2946A>G (p.Gln982=)
c.3126A>G (p.Gln1042=)
c.2793A>G (p.Gln931=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117610566A>TCA368990539CFTRc.3036A>T (p.Gln1012His)
c.*2750A>T (n.*2750A>T)
c.2853A>T (p.Gln951His)
c.*1336A>T (n.*1336A>T)
c.*2860A>T (n.*2860A>T)
c.2610A>T (p.Gln870His)
c.627A>T (p.Gln209His)
c.686A>T
c.1818A>T (p.Gln606His)
c.2946A>T (p.Gln982His)
c.3126A>T (p.Gln1042His)
c.2793A>T (p.Gln931His)
7g.117610566_117610567delinsACCA1737384852CFTRc.3036_3037delinsAC (p.Gln1012=)
c.*2750_*2751delinsAC (n.*2750_*2751delinsAC)
c.2853_2854delinsAC (p.Gln951=)
c.*1336_*1337delinsAC (n.*1336_*1337delinsAC)
c.*2860_*2861delinsAC (n.*2860_*2861delinsAC)
c.2610_2611delinsAC (p.Gln870=)
c.627_628delinsAC (p.Gln209=)
c.686_687delinsAC
c.1818_1819delinsAC (p.Gln606=)
c.2946_2947delinsAC (p.Gln982=)
c.3126_3127delinsAC (p.Gln1042=)
c.2793_2794delinsAC (p.Gln931=)
7g.117610567C>ACA368990544CFTRc.3037C>A (p.Pro1013Thr)
c.*2751C>A (n.*2751C>A)
c.2854C>A (p.Pro952Thr)
c.*1337C>A (n.*1337C>A)
c.*2861C>A (n.*2861C>A)
c.2611C>A (p.Pro871Thr)
c.628C>A (p.Pro210Thr)
c.687C>A
c.1819C>A (p.Pro607Thr)
c.2947C>A (p.Pro983Thr)
c.3127C>A (p.Pro1043Thr)
c.2794C>A (p.Pro932Thr)
7g.117610567C=CA1737384864CFTRc.3037C= (p.Pro1013=)
c.*2751C= (n.*2751C=)
c.2854C= (p.Pro952=)
c.*1337C= (n.*1337C=)
c.*2861C= (n.*2861C=)
c.2611C= (p.Pro871=)
c.628C= (p.Pro210=)
c.687C=
c.1819C= (p.Pro607=)
c.2947C= (p.Pro983=)
c.3127C= (p.Pro1043=)
c.2794C= (p.Pro932=)
7g.117610567C>GCA368990547CFTRc.3037C>G (p.Pro1013Ala)
c.*2751C>G (n.*2751C>G)
c.2854C>G (p.Pro952Ala)
c.*1337C>G (n.*1337C>G)
c.*2861C>G (n.*2861C>G)
c.2611C>G (p.Pro871Ala)
c.628C>G (p.Pro210Ala)
c.687C>G
c.1819C>G (p.Pro607Ala)
c.2947C>G (p.Pro983Ala)
c.3127C>G (p.Pro1043Ala)
c.2794C>G (p.Pro932Ala)
7g.117610567C>TCA164965144CFTRc.3037C>T (p.Pro1013Ser)
c.*2751C>T (n.*2751C>T)
c.2854C>T (p.Pro952Ser)
c.*1337C>T (n.*1337C>T)
c.*2861C>T (n.*2861C>T)
c.2611C>T (p.Pro871Ser)
c.628C>T (p.Pro210Ser)
c.687C>T
c.1819C>T (p.Pro607Ser)
c.2947C>T (p.Pro983Ser)
c.3127C>T (p.Pro1043Ser)
c.2794C>T (p.Pro932Ser)
 ClinVar dbSNP gnomAD v4
7g.117610569dupCA327023CFTRc.3039dup (p.Tyr1014LeufsTer?)
c.*2753dup (n.*2753dup)
c.2856dup (p.Tyr953LeufsTer?)
c.*1339dup (n.*1339dup)
c.*2863dup (n.*2863dup)
c.2613dup (p.Tyr872LeufsTer?)
c.630dup (p.Tyr211LeufsTer?)
c.689dup
c.1821dup (p.Tyr608LeufsTer?)
c.2949dup (p.Tyr984LeufsTer?)
c.3129dup (p.Tyr1044LeufsTer?)
c.2796dup (p.Tyr933LeufsTer?)
 ClinVar dbSNP
7g.117610569delCA327024CFTRc.3039del (p.Tyr1014ThrfsTer9)
c.*2753del (n.*2753del)
c.2856del (p.Tyr953ThrfsTer9)
c.*1339del (n.*1339del)
c.*2863del (n.*2863del)
c.2613del (p.Tyr872ThrfsTer9)
c.630del (p.Tyr211ThrfsTer9)
c.689del
c.1821del (p.Tyr608ThrfsTer9)
c.2949del (p.Tyr984ThrfsTer9)
c.3129del (p.Tyr1044ThrfsTer9)
c.2796del (p.Tyr933ThrfsTer9)
 ClinVar dbSNP
7g.117610567_117610568insTGTAAGATCAAAGAAAACA2562822052CFTRc.3037_3038insTGTAAGATCAAAGAAAA (p.Pro1013LeufsTer2)
c.*2751_*2752insTGTAAGATCAAAGAAAA (n.*2751_*2752insTGTAAGATCAAAGAAAA)
c.2854_2855insTGTAAGATCAAAGAAAA (p.Pro952LeufsTer2)
c.*1337_*1338insTGTAAGATCAAAGAAAA (n.*1337_*1338insTGTAAGATCAAAGAAAA)
c.*2861_*2862insTGTAAGATCAAAGAAAA (n.*2861_*2862insTGTAAGATCAAAGAAAA)
c.2611_2612insTGTAAGATCAAAGAAAA (p.Pro871LeufsTer2)
c.628_629insTGTAAGATCAAAGAAAA (p.Pro210LeufsTer2)
c.687_688insTGTAAGATCAAAGAAAA
c.1819_1820insTGTAAGATCAAAGAAAA (p.Pro607LeufsTer2)
c.2947_2948insTGTAAGATCAAAGAAAA (p.Pro983LeufsTer2)
c.3127_3128insTGTAAGATCAAAGAAAA (p.Pro1043LeufsTer2)
c.2794_2795insTGTAAGATCAAAGAAAA (p.Pro932LeufsTer2)
7g.117610568C>ACA260231CFTRc.3038C>A (p.Pro1013His)
c.*2752C>A (n.*2752C>A)
c.2855C>A (p.Pro952His)
c.*1338C>A (n.*1338C>A)
c.*2862C>A (n.*2862C>A)
c.2612C>A (p.Pro871His)
c.629C>A (p.Pro210His)
c.688C>A
c.1820C>A (p.Pro607His)
c.2948C>A (p.Pro983His)
c.3128C>A (p.Pro1043His)
c.2795C>A (p.Pro932His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117610568C=CA1737384873CFTRc.3038C= (p.Pro1013=)
c.*2752C= (n.*2752C=)
c.2855C= (p.Pro952=)
c.*1338C= (n.*1338C=)
c.*2862C= (n.*2862C=)
c.2612C= (p.Pro871=)
c.629C= (p.Pro210=)
c.688C=
c.1820C= (p.Pro607=)
c.2948C= (p.Pro983=)
c.3128C= (p.Pro1043=)
c.2795C= (p.Pro932=)
7g.117610568C>GCA4451368CFTRc.3038C>G (p.Pro1013Arg)
c.*2752C>G (n.*2752C>G)
c.2855C>G (p.Pro952Arg)
c.*1338C>G (n.*1338C>G)
c.*2862C>G (n.*2862C>G)
c.2612C>G (p.Pro871Arg)
c.629C>G (p.Pro210Arg)
c.688C>G
c.1820C>G (p.Pro607Arg)
c.2948C>G (p.Pro983Arg)
c.3128C>G (p.Pro1043Arg)
c.2795C>G (p.Pro932Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117610568C>TCA327022CFTRc.3038C>T (p.Pro1013Leu)
c.*2752C>T (n.*2752C>T)
c.2855C>T (p.Pro952Leu)
c.*1338C>T (n.*1338C>T)
c.*2862C>T (n.*2862C>T)
c.2612C>T (p.Pro871Leu)
c.629C>T (p.Pro210Leu)
c.688C>T
c.1820C>T (p.Pro607Leu)
c.2948C>T (p.Pro983Leu)
c.3128C>T (p.Pro1043Leu)
c.2795C>T (p.Pro932Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117610568_117610571delinsCCTACA1737384876CFTRc.3038_3041delinsCCTA (p.Pro1013=)
c.*2752_*2755delinsCCTA (n.*2752_*2755delinsCCTA)
c.2855_2858delinsCCTA (p.Pro952=)
c.*1338_*1341delinsCCTA (n.*1338_*1341delinsCCTA)
c.*2862_*2865delinsCCTA (n.*2862_*2865delinsCCTA)
c.2612_2615delinsCCTA (p.Pro871=)
c.629_632delinsCCTA (p.Pro210=)
c.688_691delinsCCTA
c.1820_1823delinsCCTA (p.Pro607=)
c.2948_2951delinsCCTA (p.Pro983=)
c.3128_3131delinsCCTA (p.Pro1043=)
c.2795_2798delinsCCTA (p.Pro932=)
7g.117610569C>ACA457229384CFTRc.3039C>A (p.Pro1013=)
c.*2753C>A (n.*2753C>A)
c.2856C>A (p.Pro952=)
c.*1339C>A (n.*1339C>A)
c.*2863C>A (n.*2863C>A)
c.2613C>A (p.Pro871=)
c.630C>A (p.Pro210=)
c.689C>A
c.1821C>A (p.Pro607=)
c.2949C>A (p.Pro983=)
c.3129C>A (p.Pro1043=)
c.2796C>A (p.Pro932=)
7g.117610569C=CA1737384887CFTRc.3039C= (p.Pro1013=)
c.*2753C= (n.*2753C=)
c.2856C= (p.Pro952=)
c.*1339C= (n.*1339C=)
c.*2863C= (n.*2863C=)
c.2613C= (p.Pro871=)
c.630C= (p.Pro210=)
c.689C=
c.1821C= (p.Pro607=)
c.2949C= (p.Pro983=)
c.3129C= (p.Pro1043=)
c.2796C= (p.Pro932=)
7g.117610569C>GCA457229385CFTRc.3039C>G (p.Pro1013=)
c.*2753C>G (n.*2753C>G)
c.2856C>G (p.Pro952=)
c.*1339C>G (n.*1339C>G)
c.*2863C>G (n.*2863C>G)
c.2613C>G (p.Pro871=)
c.630C>G (p.Pro210=)
c.689C>G
c.1821C>G (p.Pro607=)
c.2949C>G (p.Pro983=)
c.3129C>G (p.Pro1043=)
c.2796C>G (p.Pro932=)
 ClinVar dbSNP
7g.117610569C>TCA457229386CFTRc.3039C>T (p.Pro1013=)
c.*2753C>T (n.*2753C>T)
c.2856C>T (p.Pro952=)
c.*1339C>T (n.*1339C>T)
c.*2863C>T (n.*2863C>T)
c.2613C>T (p.Pro871=)
c.630C>T (p.Pro210=)
c.689C>T
c.1821C>T (p.Pro607=)
c.2949C>T (p.Pro983=)
c.3129C>T (p.Pro1043=)
c.2796C>T (p.Pro932=)
 dbSNP
7g.117610570_117610572delCA915945435CFTRc.3040_3042del (p.Tyr1014del)
c.*2754_*2756del (n.*2754_*2756del)
c.2857_2859del (p.Tyr953del)
c.*1340_*1342del (n.*1340_*1342del)
c.*2864_*2866del (n.*2864_*2866del)
c.2614_2616del (p.Tyr872del)
c.631_633del (p.Tyr211del)
c.690_692del
c.1822_1824del (p.Tyr608del)
c.2950_2952del (p.Tyr984del)
c.3130_3132del (p.Tyr1044del)
c.2797_2799del (p.Tyr933del)
 ClinVar dbSNP
7g.117610570T>ACA368990558CFTRc.3040T>A (p.Tyr1014Asn)
c.*2754T>A (n.*2754T>A)
c.2857T>A (p.Tyr953Asn)
c.*1340T>A (n.*1340T>A)
c.*2864T>A (n.*2864T>A)
c.2614T>A (p.Tyr872Asn)
c.631T>A (p.Tyr211Asn)
c.690T>A
c.1822T>A (p.Tyr608Asn)
c.2950T>A (p.Tyr984Asn)
c.3130T>A (p.Tyr1044Asn)
c.2797T>A (p.Tyr933Asn)
7g.117610570T>CCA164965162CFTRc.3040T>C (p.Tyr1014His)
c.*2754T>C (n.*2754T>C)
c.2857T>C (p.Tyr953His)
c.*1340T>C (n.*1340T>C)
c.*2864T>C (n.*2864T>C)
c.2614T>C (p.Tyr872His)
c.631T>C (p.Tyr211His)
c.690T>C
c.1822T>C (p.Tyr608His)
c.2950T>C (p.Tyr984His)
c.3130T>C (p.Tyr1044His)
c.2797T>C (p.Tyr933His)
 dbSNP
7g.117610570T>GCA368990561CFTRc.3040T>G (p.Tyr1014Asp)
c.*2754T>G (n.*2754T>G)
c.2857T>G (p.Tyr953Asp)
c.*1340T>G (n.*1340T>G)
c.*2864T>G (n.*2864T>G)
c.2614T>G (p.Tyr872Asp)
c.631T>G (p.Tyr211Asp)
c.690T>G
c.1822T>G (p.Tyr608Asp)
c.2950T>G (p.Tyr984Asp)
c.3130T>G (p.Tyr1044Asp)
c.2797T>G (p.Tyr933Asp)
7g.117610570T=CA1737384898CFTRc.3040T= (p.Tyr1014=)
c.*2754T= (n.*2754T=)
c.2857T= (p.Tyr953=)
c.*1340T= (n.*1340T=)
c.*2864T= (n.*2864T=)
c.2614T= (p.Tyr872=)
c.631T= (p.Tyr211=)
c.690T=
c.1822T= (p.Tyr608=)
c.2950T= (p.Tyr984=)
c.3130T= (p.Tyr1044=)
c.2797T= (p.Tyr933=)
7g.117610570_117610572delinsTACCA1737384896CFTRc.3040_3042delinsTAC (p.Tyr1014=)
c.*2754_*2756delinsTAC (n.*2754_*2756delinsTAC)
c.2857_2859delinsTAC (p.Tyr953=)
c.*1340_*1342delinsTAC (n.*1340_*1342delinsTAC)
c.*2864_*2866delinsTAC (n.*2864_*2866delinsTAC)
c.2614_2616delinsTAC (p.Tyr872=)
c.631_633delinsTAC (p.Tyr211=)
c.690_692delinsTAC
c.1822_1824delinsTAC (p.Tyr608=)
c.2950_2952delinsTAC (p.Tyr984=)
c.3130_3132delinsTAC (p.Tyr1044=)
c.2797_2799delinsTAC (p.Tyr933=)
7g.117610570_117610571insGTTGGTGAGTAACA2501726997CFTRc.3040_3041insGTTGGTGAGTAA (p.Tyr1014CysfsTer3)
c.*2754_*2755insGTTGGTGAGTAA (n.*2754_*2755insGTTGGTGAGTAA)
c.2857_2858insGTTGGTGAGTAA (p.Tyr953CysfsTer3)
c.*1340_*1341insGTTGGTGAGTAA (n.*1340_*1341insGTTGGTGAGTAA)
c.*2864_*2865insGTTGGTGAGTAA (n.*2864_*2865insGTTGGTGAGTAA)
c.2614_2615insGTTGGTGAGTAA (p.Tyr872CysfsTer3)
c.631_632insGTTGGTGAGTAA (p.Tyr211CysfsTer3)
c.690_691insGTTGGTGAGTAA
c.1822_1823insGTTGGTGAGTAA (p.Tyr608CysfsTer3)
c.2950_2951insGTTGGTGAGTAA (p.Tyr984CysfsTer3)
c.3130_3131insGTTGGTGAGTAA (p.Tyr1044CysfsTer3)
c.2797_2798insGTTGGTGAGTAA (p.Tyr933CysfsTer3)
7g.117610571A=CA1737384906CFTRc.3041A= (p.Tyr1014=)
c.*2755A= (n.*2755A=)
c.2858A= (p.Tyr953=)
c.*1341A= (n.*1341A=)
c.*2865A= (n.*2865A=)
c.2615A= (p.Tyr872=)
c.632A= (p.Tyr211=)
c.691A=
c.1823A= (p.Tyr608=)
c.2951A= (p.Tyr984=)
c.3131A= (p.Tyr1044=)
c.2798A= (p.Tyr933=)
7g.117610571A>CCA368990568CFTRc.3041A>C (p.Tyr1014Ser)
c.*2755A>C (n.*2755A>C)
c.2858A>C (p.Tyr953Ser)
c.*1341A>C (n.*1341A>C)
c.*2865A>C (n.*2865A>C)
c.2615A>C (p.Tyr872Ser)
c.632A>C (p.Tyr211Ser)
c.691A>C
c.1823A>C (p.Tyr608Ser)
c.2951A>C (p.Tyr984Ser)
c.3131A>C (p.Tyr1044Ser)
c.2798A>C (p.Tyr933Ser)
7g.117610571A>GCA233700CFTRc.3041A>G (p.Tyr1014Cys)
c.*2755A>G (n.*2755A>G)
c.2858A>G (p.Tyr953Cys)
c.*1341A>G (n.*1341A>G)
c.*2865A>G (n.*2865A>G)
c.2615A>G (p.Tyr872Cys)
c.632A>G (p.Tyr211Cys)
c.691A>G
c.1823A>G (p.Tyr608Cys)
c.2951A>G (p.Tyr984Cys)
c.3131A>G (p.Tyr1044Cys)
c.2798A>G (p.Tyr933Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117610571A>TCA368990566CFTRc.3041A>T (p.Tyr1014Phe)
c.*2755A>T (n.*2755A>T)
c.2858A>T (p.Tyr953Phe)
c.*1341A>T (n.*1341A>T)
c.*2865A>T (n.*2865A>T)
c.2615A>T (p.Tyr872Phe)
c.632A>T (p.Tyr211Phe)
c.691A>T
c.1823A>T (p.Tyr608Phe)
c.2951A>T (p.Tyr984Phe)
c.3131A>T (p.Tyr1044Phe)
c.2798A>T (p.Tyr933Phe)
7g.117610572_117610573delCA327026CFTRc.3042_3043del (p.Ile1015LeufsTer?)
c.*2756_*2757del (n.*2756_*2757del)
c.2859_2860del (p.Ile954LeufsTer?)
c.*1342_*1343del (n.*1342_*1343del)
c.*2866_*2867del (n.*2866_*2867del)
c.2616_2617del (p.Ile873LeufsTer?)
c.633_634del (p.Ile212LeufsTer?)
c.692_693del
c.1824_1825del (p.Ile609LeufsTer?)
c.2952_2953del (p.Ile985LeufsTer?)
c.3132_3133del (p.Ile1045LeufsTer?)
c.2799_2800del (p.Ile934LeufsTer?)
 dbSNP
7g.117610572C>ACA368990573CFTRc.3042C>A (p.Tyr1014Ter)
c.*2756C>A (n.*2756C>A)
c.2859C>A (p.Tyr953Ter)
c.*1342C>A (n.*1342C>A)
c.*2866C>A (n.*2866C>A)
c.2616C>A (p.Tyr872Ter)
c.633C>A (p.Tyr211Ter)
c.692C>A
c.1824C>A (p.Tyr608Ter)
c.2952C>A (p.Tyr984Ter)
c.3132C>A (p.Tyr1044Ter)
c.2799C>A (p.Tyr933Ter)
7g.117610572C>GCA368990574CFTRc.3042C>G (p.Tyr1014Ter)
c.*2756C>G (n.*2756C>G)
c.2859C>G (p.Tyr953Ter)
c.*1342C>G (n.*1342C>G)
c.*2866C>G (n.*2866C>G)
c.2616C>G (p.Tyr872Ter)
c.633C>G (p.Tyr211Ter)
c.692C>G
c.1824C>G (p.Tyr608Ter)
c.2952C>G (p.Tyr984Ter)
c.3132C>G (p.Tyr1044Ter)
c.2799C>G (p.Tyr933Ter)
7g.117610572C>TCA457229387CFTRc.3042C>T (p.Tyr1014=)
c.*2756C>T (n.*2756C>T)
c.2859C>T (p.Tyr953=)
c.*1342C>T (n.*1342C>T)
c.*2866C>T (n.*2866C>T)
c.2616C>T (p.Tyr872=)
c.633C>T (p.Tyr211=)
c.692C>T
c.1824C>T (p.Tyr608=)
c.2952C>T (p.Tyr984=)
c.3132C>T (p.Tyr1044=)
c.2799C>T (p.Tyr933=)
 ClinVar gnomAD v4
7g.117610573A>CCA368990578CFTRc.3043A>C (p.Ile1015Leu)
c.*2757A>C (n.*2757A>C)
c.2860A>C (p.Ile954Leu)
c.*1343A>C (n.*1343A>C)
c.*2867A>C (n.*2867A>C)
c.2617A>C (p.Ile873Leu)
c.634A>C (p.Ile212Leu)
c.693A>C
c.1825A>C (p.Ile609Leu)
c.2953A>C (p.Ile985Leu)
c.3133A>C (p.Ile1045Leu)
c.2800A>C (p.Ile934Leu)
7g.117610573A>GCA368990579CFTRc.3043A>G (p.Ile1015Val)
c.*2757A>G (n.*2757A>G)
c.2860A>G (p.Ile954Val)
c.*1343A>G (n.*1343A>G)
c.*2867A>G (n.*2867A>G)
c.2617A>G (p.Ile873Val)
c.634A>G (p.Ile212Val)
c.693A>G
c.1825A>G (p.Ile609Val)
c.2953A>G (p.Ile985Val)
c.3133A>G (p.Ile1045Val)
c.2800A>G (p.Ile934Val)
 ClinVar
7g.117610573A>TCA368990581CFTRc.3043A>T (p.Ile1015Phe)
c.*2757A>T (n.*2757A>T)
c.2860A>T (p.Ile954Phe)
c.*1343A>T (n.*1343A>T)
c.*2867A>T (n.*2867A>T)
c.2617A>T (p.Ile873Phe)
c.634A>T (p.Ile212Phe)
c.693A>T
c.1825A>T (p.Ile609Phe)
c.2953A>T (p.Ile985Phe)
c.3133A>T (p.Ile1045Phe)
c.2800A>T (p.Ile934Phe)
7g.117610574T>ACA368990584CFTRc.3044T>A (p.Ile1015Asn)
c.*2758T>A (n.*2758T>A)
c.2861T>A (p.Ile954Asn)
c.*1344T>A (n.*1344T>A)
c.*2868T>A (n.*2868T>A)
c.2618T>A (p.Ile873Asn)
c.635T>A (p.Ile212Asn)
c.694T>A
c.1826T>A (p.Ile609Asn)
c.2954T>A (p.Ile985Asn)
c.3134T>A (p.Ile1045Asn)
c.2801T>A (p.Ile934Asn)
7g.117610574T>CCA368990586CFTRc.3044T>C (p.Ile1015Thr)
c.*2758T>C (n.*2758T>C)
c.2861T>C (p.Ile954Thr)
c.*1344T>C (n.*1344T>C)
c.*2868T>C (n.*2868T>C)
c.2618T>C (p.Ile873Thr)
c.635T>C (p.Ile212Thr)
c.694T>C
c.1826T>C (p.Ile609Thr)
c.2954T>C (p.Ile985Thr)
c.3134T>C (p.Ile1045Thr)
c.2801T>C (p.Ile934Thr)
7g.117610574T>GCA368990588CFTRc.3044T>G (p.Ile1015Ser)
c.*2758T>G (n.*2758T>G)
c.2861T>G (p.Ile954Ser)
c.*1344T>G (n.*1344T>G)
c.*2868T>G (n.*2868T>G)
c.2618T>G (p.Ile873Ser)
c.635T>G (p.Ile212Ser)
c.694T>G
c.1826T>G (p.Ile609Ser)
c.2954T>G (p.Ile985Ser)
c.3134T>G (p.Ile1045Ser)
c.2801T>G (p.Ile934Ser)
7g.117610575C>ACA457229389CFTRc.3045C>A (p.Ile1015=)
c.*2759C>A (n.*2759C>A)
c.2862C>A (p.Ile954=)
c.*1345C>A (n.*1345C>A)
c.*2869C>A (n.*2869C>A)
c.2619C>A (p.Ile873=)
c.636C>A (p.Ile212=)
c.695C>A
c.1827C>A (p.Ile609=)
c.2955C>A (p.Ile985=)
c.3135C>A (p.Ile1045=)
c.2802C>A (p.Ile934=)
 ClinVar
7g.117610575C>GCA368990591CFTRc.3045C>G (p.Ile1015Met)
c.*2759C>G (n.*2759C>G)
c.2862C>G (p.Ile954Met)
c.*1345C>G (n.*1345C>G)
c.*2869C>G (n.*2869C>G)
c.2619C>G (p.Ile873Met)
c.636C>G (p.Ile212Met)
c.695C>G
c.1827C>G (p.Ile609Met)
c.2955C>G (p.Ile985Met)
c.3135C>G (p.Ile1045Met)
c.2802C>G (p.Ile934Met)
7g.117610575C>TCA457229388CFTRc.3045C>T (p.Ile1015=)
c.*2759C>T (n.*2759C>T)
c.2862C>T (p.Ile954=)
c.*1345C>T (n.*1345C>T)
c.*2869C>T (n.*2869C>T)
c.2619C>T (p.Ile873=)
c.636C>T (p.Ile212=)
c.695C>T
c.1827C>T (p.Ile609=)
c.2955C>T (p.Ile985=)
c.3135C>T (p.Ile1045=)
c.2802C>T (p.Ile934=)
 ClinVar gnomAD v4 COSMIC
7g.117610576T>ACA368990594CFTRc.3046T>A (p.Phe1016Ile)
c.*2760T>A (n.*2760T>A)
c.2863T>A (p.Phe955Ile)
c.*1346T>A (n.*1346T>A)
c.*2870T>A (n.*2870T>A)
c.2620T>A (p.Phe874Ile)
c.637T>A (p.Phe213Ile)
c.696T>A
c.1828T>A (p.Phe610Ile)
c.2956T>A (p.Phe986Ile)
c.3136T>A (p.Phe1046Ile)
c.2803T>A (p.Phe935Ile)
7g.117610576T>CCA368990596CFTRc.3046T>C (p.Phe1016Leu)
c.*2760T>C (n.*2760T>C)
c.2863T>C (p.Phe955Leu)
c.*1346T>C (n.*1346T>C)
c.*2870T>C (n.*2870T>C)
c.2620T>C (p.Phe874Leu)
c.637T>C (p.Phe213Leu)
c.696T>C
c.1828T>C (p.Phe610Leu)
c.2956T>C (p.Phe986Leu)
c.3136T>C (p.Phe1046Leu)
c.2803T>C (p.Phe935Leu)
7g.117610576T>GCA368990598CFTRc.3046T>G (p.Phe1016Val)
c.*2760T>G (n.*2760T>G)
c.2863T>G (p.Phe955Val)
c.*1346T>G (n.*1346T>G)
c.*2870T>G (n.*2870T>G)
c.2620T>G (p.Phe874Val)
c.637T>G (p.Phe213Val)
c.696T>G
c.1828T>G (p.Phe610Val)
c.2956T>G (p.Phe986Val)
c.3136T>G (p.Phe1046Val)
c.2803T>G (p.Phe935Val)
 dbSNP gnomAD v3 gnomAD v4
7g.117610577T>ACA368990606CFTRc.3047T>A (p.Phe1016Tyr)
c.*2761T>A (n.*2761T>A)
c.2864T>A (p.Phe955Tyr)
c.*1347T>A (n.*1347T>A)
c.*2871T>A (n.*2871T>A)
c.2621T>A (p.Phe874Tyr)
c.638T>A (p.Phe213Tyr)
c.697T>A
c.1829T>A (p.Phe610Tyr)
c.2957T>A (p.Phe986Tyr)
c.3137T>A (p.Phe1046Tyr)
c.2804T>A (p.Phe935Tyr)
7g.117610577T>CCA327027CFTRc.3047T>C (p.Phe1016Ser)
c.*2761T>C (n.*2761T>C)
c.2864T>C (p.Phe955Ser)
c.*1347T>C (n.*1347T>C)
c.*2871T>C (n.*2871T>C)
c.2621T>C (p.Phe874Ser)
c.638T>C (p.Phe213Ser)
c.697T>C
c.1829T>C (p.Phe610Ser)
c.2957T>C (p.Phe986Ser)
c.3137T>C (p.Phe1046Ser)
c.2804T>C (p.Phe935Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117610577T>GCA368990602CFTRc.3047T>G (p.Phe1016Cys)
c.*2761T>G (n.*2761T>G)
c.2864T>G (p.Phe955Cys)
c.*1347T>G (n.*1347T>G)
c.*2871T>G (n.*2871T>G)
c.2621T>G (p.Phe874Cys)
c.638T>G (p.Phe213Cys)
c.697T>G
c.1829T>G (p.Phe610Cys)
c.2957T>G (p.Phe986Cys)
c.3137T>G (p.Phe1046Cys)
c.2804T>G (p.Phe935Cys)
7g.117610577T=CA1737384917CFTRc.3047T= (p.Phe1016=)
c.*2761T= (n.*2761T=)
c.2864T= (p.Phe955=)
c.*1347T= (n.*1347T=)
c.*2871T= (n.*2871T=)
c.2621T= (p.Phe874=)
c.638T= (p.Phe213=)
c.697T=
c.1829T= (p.Phe610=)
c.2957T= (p.Phe986=)
c.3137T= (p.Phe1046=)
c.2804T= (p.Phe935=)
7g.117610578T>ACA368990608CFTRc.3048T>A (p.Phe1016Leu)
c.*2762T>A (n.*2762T>A)
c.2865T>A (p.Phe955Leu)
c.*1348T>A (n.*1348T>A)
c.*2872T>A (n.*2872T>A)
c.2622T>A (p.Phe874Leu)
c.639T>A (p.Phe213Leu)
c.698T>A
c.1830T>A (p.Phe610Leu)
c.2958T>A (p.Phe986Leu)
c.3138T>A (p.Phe1046Leu)
c.2805T>A (p.Phe935Leu)
7g.117610578T>CCA457229390CFTRc.3048T>C (p.Phe1016=)
c.*2762T>C (n.*2762T>C)
c.2865T>C (p.Phe955=)
c.*1348T>C (n.*1348T>C)
c.*2872T>C (n.*2872T>C)
c.2622T>C (p.Phe874=)
c.639T>C (p.Phe213=)
c.698T>C
c.1830T>C (p.Phe610=)
c.2958T>C (p.Phe986=)
c.3138T>C (p.Phe1046=)
c.2805T>C (p.Phe935=)
7g.117610578T>GCA368990611CFTRc.3048T>G (p.Phe1016Leu)
c.*2762T>G (n.*2762T>G)
c.2865T>G (p.Phe955Leu)
c.*1348T>G (n.*1348T>G)
c.*2872T>G (n.*2872T>G)
c.2622T>G (p.Phe874Leu)
c.639T>G (p.Phe213Leu)
c.698T>G
c.1830T>G (p.Phe610Leu)
c.2958T>G (p.Phe986Leu)
c.3138T>G (p.Phe1046Leu)
c.2805T>G (p.Phe935Leu)
7g.117610579G>ACA368990613CFTRc.3049G>A (p.Val1017Ile)
c.*2763G>A (n.*2763G>A)
c.2866G>A (p.Val956Ile)
c.*1349G>A (n.*1349G>A)
c.*2873G>A (n.*2873G>A)
c.2623G>A (p.Val875Ile)
c.640G>A (p.Val214Ile)
c.699G>A
c.1831G>A (p.Val611Ile)
c.2959G>A (p.Val987Ile)
c.3139G>A (p.Val1047Ile)
c.2806G>A (p.Val936Ile)
 dbSNP
7g.117610579G>CCA368990615CFTRc.3049G>C (p.Val1017Leu)
c.*2763G>C (n.*2763G>C)
c.2866G>C (p.Val956Leu)
c.*1349G>C (n.*1349G>C)
c.*2873G>C (n.*2873G>C)
c.2623G>C (p.Val875Leu)
c.640G>C (p.Val214Leu)
c.699G>C
c.1831G>C (p.Val611Leu)
c.2959G>C (p.Val987Leu)
c.3139G>C (p.Val1047Leu)
c.2806G>C (p.Val936Leu)
7g.117610579G=CA1737384921CFTRc.3049G= (p.Val1017=)
c.*2763G= (n.*2763G=)
c.2866G= (p.Val956=)
c.*1349G= (n.*1349G=)
c.*2873G= (n.*2873G=)
c.2623G= (p.Val875=)
c.640G= (p.Val214=)
c.699G=
c.1831G= (p.Val611=)
c.2959G= (p.Val987=)
c.3139G= (p.Val1047=)
c.2806G= (p.Val936=)
7g.117610579G>TCA368990617CFTRc.3049G>T (p.Val1017Phe)
c.*2763G>T (n.*2763G>T)
c.2866G>T (p.Val956Phe)
c.*1349G>T (n.*1349G>T)
c.*2873G>T (n.*2873G>T)
c.2623G>T (p.Val875Phe)
c.640G>T (p.Val214Phe)
c.699G>T
c.1831G>T (p.Val611Phe)
c.2959G>T (p.Val987Phe)
c.3139G>T (p.Val1047Phe)
c.2806G>T (p.Val936Phe)
 gnomAD v4
7g.117610580T>ACA368990621CFTRc.3050T>A (p.Val1017Asp)
c.*2764T>A (n.*2764T>A)
c.2867T>A (p.Val956Asp)
c.*1350T>A (n.*1350T>A)
c.*2874T>A (n.*2874T>A)
c.2624T>A (p.Val875Asp)
c.641T>A (p.Val214Asp)
c.700T>A
c.1832T>A (p.Val611Asp)
c.2960T>A (p.Val987Asp)
c.3140T>A (p.Val1047Asp)
c.2807T>A (p.Val936Asp)
7g.117610580T>CCA368990623CFTRc.3050T>C (p.Val1017Ala)
c.*2764T>C (n.*2764T>C)
c.2867T>C (p.Val956Ala)
c.*1350T>C (n.*1350T>C)
c.*2874T>C (n.*2874T>C)
c.2624T>C (p.Val875Ala)
c.641T>C (p.Val214Ala)
c.700T>C
c.1832T>C (p.Val611Ala)
c.2960T>C (p.Val987Ala)
c.3140T>C (p.Val1047Ala)
c.2807T>C (p.Val936Ala)
7g.117610580T>GCA368990626CFTRc.3050T>G (p.Val1017Gly)
c.*2764T>G (n.*2764T>G)
c.2867T>G (p.Val956Gly)
c.*1350T>G (n.*1350T>G)
c.*2874T>G (n.*2874T>G)
c.2624T>G (p.Val875Gly)
c.641T>G (p.Val214Gly)
c.700T>G
c.1832T>G (p.Val611Gly)
c.2960T>G (p.Val987Gly)
c.3140T>G (p.Val1047Gly)
c.2807T>G (p.Val936Gly)
7g.117610581T>ACA457229391CFTRc.3051T>A (p.Val1017=)
c.*2765T>A (n.*2765T>A)
c.2868T>A (p.Val956=)
c.*1351T>A (n.*1351T>A)
c.*2875T>A (n.*2875T>A)
c.2625T>A (p.Val875=)
c.642T>A (p.Val214=)
c.701T>A
c.1833T>A (p.Val611=)
c.2961T>A (p.Val987=)
c.3141T>A (p.Val1047=)
c.2808T>A (p.Val936=)
7g.117610581T>CCA457229392CFTRc.3051T>C (p.Val1017=)
c.*2765T>C (n.*2765T>C)
c.2868T>C (p.Val956=)
c.*1351T>C (n.*1351T>C)
c.*2875T>C (n.*2875T>C)
c.2625T>C (p.Val875=)
c.642T>C (p.Val214=)
c.701T>C
c.1833T>C (p.Val611=)
c.2961T>C (p.Val987=)
c.3141T>C (p.Val1047=)
c.2808T>C (p.Val936=)
7g.117610581T>GCA457229393CFTRc.3051T>G (p.Val1017=)
c.*2765T>G (n.*2765T>G)
c.2868T>G (p.Val956=)
c.*1351T>G (n.*1351T>G)
c.*2875T>G (n.*2875T>G)
c.2625T>G (p.Val875=)
c.642T>G (p.Val214=)
c.701T>G
c.1833T>G (p.Val611=)
c.2961T>G (p.Val987=)
c.3141T>G (p.Val1047=)
c.2808T>G (p.Val936=)
7g.117610582G>ACA4451369CFTRc.3052G>A (p.Ala1018Thr)
c.*2766G>A (n.*2766G>A)
c.2869G>A (p.Ala957Thr)
c.*1352G>A (n.*1352G>A)
c.*2876G>A (n.*2876G>A)
c.2626G>A (p.Ala876Thr)
c.643G>A (p.Ala215Thr)
c.702G>A
c.1834G>A (p.Ala612Thr)
c.2962G>A (p.Ala988Thr)
c.3142G>A (p.Ala1048Thr)
c.2809G>A (p.Ala937Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117610582G>CCA368990630CFTRc.3052G>C (p.Ala1018Pro)
c.*2766G>C (n.*2766G>C)
c.2869G>C (p.Ala957Pro)
c.*1352G>C (n.*1352G>C)
c.*2876G>C (n.*2876G>C)
c.2626G>C (p.Ala876Pro)
c.643G>C (p.Ala215Pro)
c.702G>C
c.1834G>C (p.Ala612Pro)
c.2962G>C (p.Ala988Pro)
c.3142G>C (p.Ala1048Pro)
c.2809G>C (p.Ala937Pro)
7g.117610582G=CA1737384924CFTRc.3052G= (p.Ala1018=)
c.*2766G= (n.*2766G=)
c.2869G= (p.Ala957=)
c.*1352G= (n.*1352G=)
c.*2876G= (n.*2876G=)
c.2626G= (p.Ala876=)
c.643G= (p.Ala215=)
c.702G=
c.1834G= (p.Ala612=)
c.2962G= (p.Ala988=)
c.3142G= (p.Ala1048=)
c.2809G= (p.Ala937=)
7g.117610582G>TCA368990632CFTRc.3052G>T (p.Ala1018Ser)
c.*2766G>T (n.*2766G>T)
c.2869G>T (p.Ala957Ser)
c.*1352G>T (n.*1352G>T)
c.*2876G>T (n.*2876G>T)
c.2626G>T (p.Ala876Ser)
c.643G>T (p.Ala215Ser)
c.702G>T
c.1834G>T (p.Ala612Ser)
c.2962G>T (p.Ala988Ser)
c.3142G>T (p.Ala1048Ser)
c.2809G>T (p.Ala937Ser)
7g.117610583C>ACA368990634CFTRc.3053C>A (p.Ala1018Glu)
c.*2767C>A (n.*2767C>A)
c.2870C>A (p.Ala957Glu)
c.*1353C>A (n.*1353C>A)
c.*2877C>A (n.*2877C>A)
c.2627C>A (p.Ala876Glu)
c.644C>A (p.Ala215Glu)
c.703C>A
c.1835C>A (p.Ala612Glu)
c.2963C>A (p.Ala988Glu)
c.3143C>A (p.Ala1048Glu)
c.2810C>A (p.Ala937Glu)
7g.117610583C>GCA368990636CFTRc.3053C>G (p.Ala1018Gly)
c.*2767C>G (n.*2767C>G)
c.2870C>G (p.Ala957Gly)
c.*1353C>G (n.*1353C>G)
c.*2877C>G (n.*2877C>G)
c.2627C>G (p.Ala876Gly)
c.644C>G (p.Ala215Gly)
c.703C>G
c.1835C>G (p.Ala612Gly)
c.2963C>G (p.Ala988Gly)
c.3143C>G (p.Ala1048Gly)
c.2810C>G (p.Ala937Gly)
7g.117610583C>TCA368990638CFTRc.3053C>T (p.Ala1018Val)
c.*2767C>T (n.*2767C>T)
c.2870C>T (p.Ala957Val)
c.*1353C>T (n.*1353C>T)
c.*2877C>T (n.*2877C>T)
c.2627C>T (p.Ala876Val)
c.644C>T (p.Ala215Val)
c.703C>T
c.1835C>T (p.Ala612Val)
c.2963C>T (p.Ala988Val)
c.3143C>T (p.Ala1048Val)
c.2810C>T (p.Ala937Val)
7g.117610584A>CCA457229395CFTRc.3054A>C (p.Ala1018=)
c.*2768A>C (n.*2768A>C)
c.2871A>C (p.Ala957=)
c.*1354A>C (n.*1354A>C)
c.*2878A>C (n.*2878A>C)
c.2628A>C (p.Ala876=)
c.645A>C (p.Ala215=)
c.704A>C
c.1836A>C (p.Ala612=)
c.2964A>C (p.Ala988=)
c.3144A>C (p.Ala1048=)
c.2811A>C (p.Ala937=)
7g.117610584A>GCA457229396CFTRc.3054A>G (p.Ala1018=)
c.*2768A>G (n.*2768A>G)
c.2871A>G (p.Ala957=)
c.*1354A>G (n.*1354A>G)
c.*2878A>G (n.*2878A>G)
c.2628A>G (p.Ala876=)
c.645A>G (p.Ala215=)
c.704A>G
c.1836A>G (p.Ala612=)
c.2964A>G (p.Ala988=)
c.3144A>G (p.Ala1048=)
c.2811A>G (p.Ala937=)
7g.117610584A>TCA457229397CFTRc.3054A>T (p.Ala1018=)
c.*2768A>T (n.*2768A>T)
c.2871A>T (p.Ala957=)
c.*1354A>T (n.*1354A>T)
c.*2878A>T (n.*2878A>T)
c.2628A>T (p.Ala876=)
c.645A>T (p.Ala215=)
c.704A>T
c.1836A>T (p.Ala612=)
c.2964A>T (p.Ala988=)
c.3144A>T (p.Ala1048=)
c.2811A>T (p.Ala937=)
7g.117610585A=CA1737384926CFTRc.3055A= (p.Thr1019=)
c.*2769A= (n.*2769A=)
c.2872A= (p.Thr958=)
c.*1355A= (n.*1355A=)
c.*2879A= (n.*2879A=)
c.2629A= (p.Thr877=)
c.646A= (p.Thr216=)
c.705A=
c.1837A= (p.Thr613=)
c.2965A= (p.Thr989=)
c.3145A= (p.Thr1049=)
c.2812A= (p.Thr938=)
7g.117610585A>CCA368990643CFTRc.3055A>C (p.Thr1019Pro)
c.*2769A>C (n.*2769A>C)
c.2872A>C (p.Thr958Pro)
c.*1355A>C (n.*1355A>C)
c.*2879A>C (n.*2879A>C)
c.2629A>C (p.Thr877Pro)
c.646A>C (p.Thr216Pro)
c.705A>C
c.1837A>C (p.Thr613Pro)
c.2965A>C (p.Thr989Pro)
c.3145A>C (p.Thr1049Pro)
c.2812A>C (p.Thr938Pro)
7g.117610585A>GCA164965189CFTRc.3055A>G (p.Thr1019Ala)
c.*2769A>G (n.*2769A>G)
c.2872A>G (p.Thr958Ala)
c.*1355A>G (n.*1355A>G)
c.*2879A>G (n.*2879A>G)
c.2629A>G (p.Thr877Ala)
c.646A>G (p.Thr216Ala)
c.705A>G
c.1837A>G (p.Thr613Ala)
c.2965A>G (p.Thr989Ala)
c.3145A>G (p.Thr1049Ala)
c.2812A>G (p.Thr938Ala)
 dbSNP
7g.117610585A>TCA368990641CFTRc.3055A>T (p.Thr1019Ser)
c.*2769A>T (n.*2769A>T)
c.2872A>T (p.Thr958Ser)
c.*1355A>T (n.*1355A>T)
c.*2879A>T (n.*2879A>T)
c.2629A>T (p.Thr877Ser)
c.646A>T (p.Thr216Ser)
c.705A>T
c.1837A>T (p.Thr613Ser)
c.2965A>T (p.Thr989Ser)
c.3145A>T (p.Thr1049Ser)
c.2812A>T (p.Thr938Ser)
7g.117610586C>ACA368990645CFTRc.3056C>A (p.Thr1019Lys)
c.*2770C>A (n.*2770C>A)
c.2873C>A (p.Thr958Lys)
c.*1356C>A (n.*1356C>A)
c.*2880C>A (n.*2880C>A)
c.2630C>A (p.Thr877Lys)
c.647C>A (p.Thr216Lys)
c.706C>A
c.1838C>A (p.Thr613Lys)
c.2966C>A (p.Thr989Lys)
c.3146C>A (p.Thr1049Lys)
c.2813C>A (p.Thr938Lys)
7g.117610586C=CA1737384932CFTRc.3056C= (p.Thr1019=)
c.*2770C= (n.*2770C=)
c.2873C= (p.Thr958=)
c.*1356C= (n.*1356C=)
c.*2880C= (n.*2880C=)
c.2630C= (p.Thr877=)
c.647C= (p.Thr216=)
c.706C=
c.1838C= (p.Thr613=)
c.2966C= (p.Thr989=)
c.3146C= (p.Thr1049=)
c.2813C= (p.Thr938=)
7g.117610586C>GCA368990647CFTRc.3056C>G (p.Thr1019Arg)
c.*2770C>G (n.*2770C>G)
c.2873C>G (p.Thr958Arg)
c.*1356C>G (n.*1356C>G)
c.*2880C>G (n.*2880C>G)
c.2630C>G (p.Thr877Arg)
c.647C>G (p.Thr216Arg)
c.706C>G
c.1838C>G (p.Thr613Arg)
c.2966C>G (p.Thr989Arg)
c.3146C>G (p.Thr1049Arg)
c.2813C>G (p.Thr938Arg)
7g.117610586C>TCA164965222CFTRc.3056C>T (p.Thr1019Ile)
c.*2770C>T (n.*2770C>T)
c.2873C>T (p.Thr958Ile)
c.*1356C>T (n.*1356C>T)
c.*2880C>T (n.*2880C>T)
c.2630C>T (p.Thr877Ile)
c.647C>T (p.Thr216Ile)
c.706C>T
c.1838C>T (p.Thr613Ile)
c.2966C>T (p.Thr989Ile)
c.3146C>T (p.Thr1049Ile)
c.2813C>T (p.Thr938Ile)
 dbSNP
7g.117610587A>CCA457229400CFTRc.3057A>C (p.Thr1019=)
c.*2771A>C (n.*2771A>C)
c.2874A>C (p.Thr958=)
c.*1357A>C (n.*1357A>C)
c.*2881A>C (n.*2881A>C)
c.2631A>C (p.Thr877=)
c.648A>C (p.Thr216=)
c.707A>C
c.1839A>C (p.Thr613=)
c.2967A>C (p.Thr989=)
c.3147A>C (p.Thr1049=)
c.2814A>C (p.Thr938=)
7g.117610587A>GCA457229402CFTRc.3057A>G (p.Thr1019=)
c.*2771A>G (n.*2771A>G)
c.2874A>G (p.Thr958=)
c.*1357A>G (n.*1357A>G)
c.*2881A>G (n.*2881A>G)
c.2631A>G (p.Thr877=)
c.648A>G (p.Thr216=)
c.707A>G
c.1839A>G (p.Thr613=)
c.2967A>G (p.Thr989=)
c.3147A>G (p.Thr1049=)
c.2814A>G (p.Thr938=)
7g.117610587A>TCA457229403CFTRc.3057A>T (p.Thr1019=)
c.*2771A>T (n.*2771A>T)
c.2874A>T (p.Thr958=)
c.*1357A>T (n.*1357A>T)
c.*2881A>T (n.*2881A>T)
c.2631A>T (p.Thr877=)
c.648A>T (p.Thr216=)
c.707A>T
c.1839A>T (p.Thr613=)
c.2967A>T (p.Thr989=)
c.3147A>T (p.Thr1049=)
c.2814A>T (p.Thr938=)
7g.117610588G>ACA368990650CFTRc.3058G>A (p.Val1020Met)
c.*2772G>A (n.*2772G>A)
c.2875G>A (p.Val959Met)
c.*1358G>A (n.*1358G>A)
c.*2882G>A (n.*2882G>A)
c.2632G>A (p.Val878Met)
c.649G>A (p.Val217Met)
c.708G>A
c.1840G>A (p.Val614Met)
c.2968G>A (p.Val990Met)
c.3148G>A (p.Val1050Met)
c.2815G>A (p.Val939Met)
 COSMIC
7g.117610588G>CCA368990652CFTRc.3058G>C (p.Val1020Leu)
c.*2772G>C (n.*2772G>C)
c.2875G>C (p.Val959Leu)
c.*1358G>C (n.*1358G>C)
c.*2882G>C (n.*2882G>C)
c.2632G>C (p.Val878Leu)
c.649G>C (p.Val217Leu)
c.708G>C
c.1840G>C (p.Val614Leu)
c.2968G>C (p.Val990Leu)
c.3148G>C (p.Val1050Leu)
c.2815G>C (p.Val939Leu)
7g.117610588G>TCA368990654CFTRc.3058G>T (p.Val1020Leu)
c.*2772G>T (n.*2772G>T)
c.2875G>T (p.Val959Leu)
c.*1358G>T (n.*1358G>T)
c.*2882G>T (n.*2882G>T)
c.2632G>T (p.Val878Leu)
c.649G>T (p.Val217Leu)
c.708G>T
c.1840G>T (p.Val614Leu)
c.2968G>T (p.Val990Leu)
c.3148G>T (p.Val1050Leu)
c.2815G>T (p.Val939Leu)
7g.117610589T>ACA327029CFTRc.3059T>A (p.Val1020Glu)
c.*2773T>A (n.*2773T>A)
c.2876T>A (p.Val959Glu)
c.*1359T>A (n.*1359T>A)
c.*2883T>A (n.*2883T>A)
c.2633T>A (p.Val878Glu)
c.650T>A (p.Val217Glu)
c.709T>A
c.1841T>A (p.Val614Glu)
c.2969T>A (p.Val990Glu)
c.3149T>A (p.Val1050Glu)
c.2816T>A (p.Val939Glu)
 dbSNP
7g.117610589T>CCA368990657CFTRc.3059T>C (p.Val1020Ala)
c.*2773T>C (n.*2773T>C)
c.2876T>C (p.Val959Ala)
c.*1359T>C (n.*1359T>C)
c.*2883T>C (n.*2883T>C)
c.2633T>C (p.Val878Ala)
c.650T>C (p.Val217Ala)
c.709T>C
c.1841T>C (p.Val614Ala)
c.2969T>C (p.Val990Ala)
c.3149T>C (p.Val1050Ala)
c.2816T>C (p.Val939Ala)
7g.117610589T>GCA368990659CFTRc.3059T>G (p.Val1020Gly)
c.*2773T>G (n.*2773T>G)
c.2876T>G (p.Val959Gly)
c.*1359T>G (n.*1359T>G)
c.*2883T>G (n.*2883T>G)
c.2633T>G (p.Val878Gly)
c.650T>G (p.Val217Gly)
c.709T>G
c.1841T>G (p.Val614Gly)
c.2969T>G (p.Val990Gly)
c.3149T>G (p.Val1050Gly)
c.2816T>G (p.Val939Gly)
7g.117610589T=CA1737384934CFTRc.3059T= (p.Val1020=)
c.*2773T= (n.*2773T=)
c.2876T= (p.Val959=)
c.*1359T= (n.*1359T=)
c.*2883T= (n.*2883T=)
c.2633T= (p.Val878=)
c.650T= (p.Val217=)
c.709T=
c.1841T= (p.Val614=)
c.2969T= (p.Val990=)
c.3149T= (p.Val1050=)
c.2816T= (p.Val939=)
7g.117610590G>ACA457229406CFTRc.3060G>A (p.Val1020=)
c.*2774G>A (n.*2774G>A)
c.2877G>A (p.Val959=)
c.*1360G>A (n.*1360G>A)
c.*2884G>A (n.*2884G>A)
c.2634G>A (p.Val878=)
c.651G>A (p.Val217=)
c.710G>A
c.1842G>A (p.Val614=)
c.2970G>A (p.Val990=)
c.3150G>A (p.Val1050=)
c.2817G>A (p.Val939=)
 ClinVar dbSNP gnomAD v4
7g.117610590G>CCA457229407CFTRc.3060G>C (p.Val1020=)
c.*2774G>C (n.*2774G>C)
c.2877G>C (p.Val959=)
c.*1360G>C (n.*1360G>C)
c.*2884G>C (n.*2884G>C)
c.2634G>C (p.Val878=)
c.651G>C (p.Val217=)
c.710G>C
c.1842G>C (p.Val614=)
c.2970G>C (p.Val990=)
c.3150G>C (p.Val1050=)
c.2817G>C (p.Val939=)
7g.117610590G=CA1737384938CFTRc.3060G= (p.Val1020=)
c.*2774G= (n.*2774G=)
c.2877G= (p.Val959=)
c.*1360G= (n.*1360G=)
c.*2884G= (n.*2884G=)
c.2634G= (p.Val878=)
c.651G= (p.Val217=)
c.710G=
c.1842G= (p.Val614=)
c.2970G= (p.Val990=)
c.3150G= (p.Val1050=)
c.2817G= (p.Val939=)
7g.117610590G>TCA457229408CFTRc.3060G>T (p.Val1020=)
c.*2774G>T (n.*2774G>T)
c.2877G>T (p.Val959=)
c.*1360G>T (n.*1360G>T)
c.*2884G>T (n.*2884G>T)
c.2634G>T (p.Val878=)
c.651G>T (p.Val217=)
c.710G>T
c.1842G>T (p.Val614=)
c.2970G>T (p.Val990=)
c.3150G>T (p.Val1050=)
c.2817G>T (p.Val939=)
 ClinVar
7g.117610591C>ACA4451370CFTRc.3061C>A (p.Pro1021Thr)
c.*2775C>A (n.*2775C>A)
c.2878C>A (p.Pro960Thr)
c.*1361C>A (n.*1361C>A)
c.*2885C>A (n.*2885C>A)
c.2635C>A (p.Pro879Thr)
c.652C>A (p.Pro218Thr)
c.711C>A
c.1843C>A (p.Pro615Thr)
c.2971C>A (p.Pro991Thr)
c.3151C>A (p.Pro1051Thr)
c.2818C>A (p.Pro940Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117610591C=CA1737384945CFTRc.3061C= (p.Pro1021=)
c.*2775C= (n.*2775C=)
c.2878C= (p.Pro960=)
c.*1361C= (n.*1361C=)
c.*2885C= (n.*2885C=)
c.2635C= (p.Pro879=)
c.652C= (p.Pro218=)
c.711C=
c.1843C= (p.Pro615=)
c.2971C= (p.Pro991=)
c.3151C= (p.Pro1051=)
c.2818C= (p.Pro940=)
7g.117610591C>GCA16040179CFTRc.3061C>G (p.Pro1021Ala)
c.*2775C>G (n.*2775C>G)
c.2878C>G (p.Pro960Ala)
c.*1361C>G (n.*1361C>G)
c.*2885C>G (n.*2885C>G)
c.2635C>G (p.Pro879Ala)
c.652C>G (p.Pro218Ala)
c.711C>G
c.1843C>G (p.Pro615Ala)
c.2971C>G (p.Pro991Ala)
c.3151C>G (p.Pro1051Ala)
c.2818C>G (p.Pro940Ala)
7g.117610591C>TCA327033CFTRc.3061C>T (p.Pro1021Ser)
c.*2775C>T (n.*2775C>T)
c.2878C>T (p.Pro960Ser)
c.*1361C>T (n.*1361C>T)
c.*2885C>T (n.*2885C>T)
c.2635C>T (p.Pro879Ser)
c.652C>T (p.Pro218Ser)
c.711C>T
c.1843C>T (p.Pro615Ser)
c.2971C>T (p.Pro991Ser)
c.3151C>T (p.Pro1051Ser)
c.2818C>T (p.Pro940Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117610592C>ACA368990672CFTRc.3062C>A (p.Pro1021Gln)
c.*2776C>A (n.*2776C>A)
c.2879C>A (p.Pro960Gln)
c.*1362C>A (n.*1362C>A)
c.*2886C>A (n.*2886C>A)
c.2636C>A (p.Pro879Gln)
c.653C>A (p.Pro218Gln)
c.712C>A
c.1844C>A (p.Pro615Gln)
c.2972C>A (p.Pro991Gln)
c.3152C>A (p.Pro1051Gln)
c.2819C>A (p.Pro940Gln)
7g.117610592C=CA1737384959CFTRc.3062C= (p.Pro1021=)
c.*2776C= (n.*2776C=)
c.2879C= (p.Pro960=)
c.*1362C= (n.*1362C=)
c.*2886C= (n.*2886C=)
c.2636C= (p.Pro879=)
c.653C= (p.Pro218=)
c.712C=
c.1844C= (p.Pro615=)
c.2972C= (p.Pro991=)
c.3152C= (p.Pro1051=)
c.2819C= (p.Pro940=)
7g.117610592C>GCA368990670CFTRc.3062C>G (p.Pro1021Arg)
c.*2776C>G (n.*2776C>G)
c.2879C>G (p.Pro960Arg)
c.*1362C>G (n.*1362C>G)
c.*2886C>G (n.*2886C>G)
c.2636C>G (p.Pro879Arg)
c.653C>G (p.Pro218Arg)
c.712C>G
c.1844C>G (p.Pro615Arg)
c.2972C>G (p.Pro991Arg)
c.3152C>G (p.Pro1051Arg)
c.2819C>G (p.Pro940Arg)
7g.117610592C>TCA368990667CFTRc.3062C>T (p.Pro1021Leu)
c.*2776C>T (n.*2776C>T)
c.2879C>T (p.Pro960Leu)
c.*1362C>T (n.*1362C>T)
c.*2886C>T (n.*2886C>T)
c.2636C>T (p.Pro879Leu)
c.653C>T (p.Pro218Leu)
c.712C>T
c.1844C>T (p.Pro615Leu)
c.2972C>T (p.Pro991Leu)
c.3152C>T (p.Pro1051Leu)
c.2819C>T (p.Pro940Leu)
 ClinVar dbSNP
7g.117610592_117610598delinsCAGTGATCA1737384952CFTRc.3062_3068delinsCAGTGAT (p.Pro1021=)
c.*2776_*2782delinsCAGTGAT (n.*2776_*2782delinsCAGTGAT)
c.2879_2885delinsCAGTGAT (p.Pro960=)
c.*1362_*1368delinsCAGTGAT (n.*1362_*1368delinsCAGTGAT)
c.*2886_*2892delinsCAGTGAT (n.*2886_*2892delinsCAGTGAT)
c.2636_2642delinsCAGTGAT (p.Pro879=)
c.653_659delinsCAGTGAT (p.Pro218=)
c.712_718delinsCAGTGAT
c.1844_1850delinsCAGTGAT (p.Pro615=)
c.2972_2978delinsCAGTGAT (p.Pro991=)
c.3152_3158delinsCAGTGAT (p.Pro1051=)
c.2819_2825delinsCAGTGAT (p.Pro940=)
7g.117610592_117610646delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCACA1737384955CFTRc.3062_3116delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA (p.Pro1021=)
c.*2776_*2830delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA (n.*2776_*2830delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA)
c.2879_2933delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA (p.Pro960=)
c.*1362_*1416delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA (n.*1362_*1416delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA)
c.*2886_*2940delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA (n.*2886_*2940delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA)
c.2636_2690delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA (p.Pro879=)
c.653_707delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA (p.Pro218=)
c.712_766delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA
c.1844_1898delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA (p.Pro615=)
c.2972_3026delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA (p.Pro991=)
c.3152_3206delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA (p.Pro1051=)
c.2819_2873delinsCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCA (p.Pro940=)
7g.117610593A>CCA457229411CFTRc.3063A>C (p.Pro1021=)
c.*2777A>C (n.*2777A>C)
c.2880A>C (p.Pro960=)
c.*1363A>C (n.*1363A>C)
c.*2887A>C (n.*2887A>C)
c.2637A>C (p.Pro879=)
c.654A>C (p.Pro218=)
c.713A>C
c.1845A>C (p.Pro615=)
c.2973A>C (p.Pro991=)
c.3153A>C (p.Pro1051=)
c.2820A>C (p.Pro940=)
7g.117610593A>GCA457229410CFTRc.3063A>G (p.Pro1021=)
c.*2777A>G (n.*2777A>G)
c.2880A>G (p.Pro960=)
c.*1363A>G (n.*1363A>G)
c.*2887A>G (n.*2887A>G)
c.2637A>G (p.Pro879=)
c.654A>G (p.Pro218=)
c.713A>G
c.1845A>G (p.Pro615=)
c.2973A>G (p.Pro991=)
c.3153A>G (p.Pro1051=)
c.2820A>G (p.Pro940=)
 ClinVar
7g.117610593A>TCA457229412CFTRc.3063A>T (p.Pro1021=)
c.*2777A>T (n.*2777A>T)
c.2880A>T (p.Pro960=)
c.*1363A>T (n.*1363A>T)
c.*2887A>T (n.*2887A>T)
c.2637A>T (p.Pro879=)
c.654A>T (p.Pro218=)
c.713A>T
c.1845A>T (p.Pro615=)
c.2973A>T (p.Pro991=)
c.3153A>T (p.Pro1051=)
c.2820A>T (p.Pro940=)
7g.117610597_117610602delCA221021CFTRc.3067_3072del (p.Ile1023_Val1024del)
c.*2781_*2786del (n.*2781_*2786del)
c.2884_2889del (p.Ile962_Val963del)
c.*1367_*1372del (n.*1367_*1372del)
c.*2891_*2896del (n.*2891_*2896del)
c.2641_2646del (p.Ile881_Val882del)
c.658_663del (p.Ile220_Val221del)
c.717_722del
c.1849_1854del (p.Ile617_Val618del)
c.2977_2982del (p.Ile993_Val994del)
c.3157_3162del (p.Ile1053_Val1054del)
c.2824_2829del (p.Ile942_Val943del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117610594_117610647delCA327035CFTRc.3064_3117del (p.Val1022_Gln1039del)
c.*2778_*2831del (n.*2778_*2831del)
c.2881_2934del (p.Val961_Gln978del)
c.*1364_*1417del (n.*1364_*1417del)
c.*2888_*2941del (n.*2888_*2941del)
c.2638_2691del (p.Val880_Gln897del)
c.655_708del (p.Val219_Gln236del)
c.714_767del
c.1846_1899del (p.Val616_Gln633del)
c.2974_3027del (p.Val992_Gln1009del)
c.3154_3207del (p.Val1052_Gln1069del)
c.2821_2874del (p.Val941_Gln958del)
 ClinVar dbSNP
7g.117610594G>ACA4451371CFTRc.3064G>A (p.Val1022Met)
c.*2778G>A (n.*2778G>A)
c.2881G>A (p.Val961Met)
c.*1364G>A (n.*1364G>A)
c.*2888G>A (n.*2888G>A)
c.2638G>A (p.Val880Met)
c.655G>A (p.Val219Met)
c.714G>A
c.1846G>A (p.Val616Met)
c.2974G>A (p.Val992Met)
c.3154G>A (p.Val1052Met)
c.2821G>A (p.Val941Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117610594G>CCA368990684CFTRc.3064G>C (p.Val1022Leu)
c.*2778G>C (n.*2778G>C)
c.2881G>C (p.Val961Leu)
c.*1364G>C (n.*1364G>C)
c.*2888G>C (n.*2888G>C)
c.2638G>C (p.Val880Leu)
c.655G>C (p.Val219Leu)
c.714G>C
c.1846G>C (p.Val616Leu)
c.2974G>C (p.Val992Leu)
c.3154G>C (p.Val1052Leu)
c.2821G>C (p.Val941Leu)
 ClinVar dbSNP
7g.117610594G=CA1737384975CFTRc.3064G= (p.Val1022=)
c.*2778G= (n.*2778G=)
c.2881G= (p.Val961=)
c.*1364G= (n.*1364G=)
c.*2888G= (n.*2888G=)
c.2638G= (p.Val880=)
c.655G= (p.Val219=)
c.714G=
c.1846G= (p.Val616=)
c.2974G= (p.Val992=)
c.3154G= (p.Val1052=)
c.2821G= (p.Val941=)
7g.117610594G>TCA368990686CFTRc.3064G>T (p.Val1022Leu)
c.*2778G>T (n.*2778G>T)
c.2881G>T (p.Val961Leu)
c.*1364G>T (n.*1364G>T)
c.*2888G>T (n.*2888G>T)
c.2638G>T (p.Val880Leu)
c.655G>T (p.Val219Leu)
c.714G>T
c.1846G>T (p.Val616Leu)
c.2974G>T (p.Val992Leu)
c.3154G>T (p.Val1052Leu)
c.2821G>T (p.Val941Leu)
7g.117610595T>ACA368990689CFTRc.3065T>A (p.Val1022Glu)
c.*2779T>A (n.*2779T>A)
c.2882T>A (p.Val961Glu)
c.*1365T>A (n.*1365T>A)
c.*2889T>A (n.*2889T>A)
c.2639T>A (p.Val880Glu)
c.656T>A (p.Val219Glu)
c.715T>A
c.1847T>A (p.Val616Glu)
c.2975T>A (p.Val992Glu)
c.3155T>A (p.Val1052Glu)
c.2822T>A (p.Val941Glu)
7g.117610595T>CCA368990690CFTRc.3065T>C (p.Val1022Ala)
c.*2779T>C (n.*2779T>C)
c.2882T>C (p.Val961Ala)
c.*1365T>C (n.*1365T>C)
c.*2889T>C (n.*2889T>C)
c.2639T>C (p.Val880Ala)
c.656T>C (p.Val219Ala)
c.715T>C
c.1847T>C (p.Val616Ala)
c.2975T>C (p.Val992Ala)
c.3155T>C (p.Val1052Ala)
c.2822T>C (p.Val941Ala)
 ClinVar
7g.117610595T>GCA368990693CFTRc.3065T>G (p.Val1022Gly)
c.*2779T>G (n.*2779T>G)
c.2882T>G (p.Val961Gly)
c.*1365T>G (n.*1365T>G)
c.*2889T>G (n.*2889T>G)
c.2639T>G (p.Val880Gly)
c.656T>G (p.Val219Gly)
c.715T>G
c.1847T>G (p.Val616Gly)
c.2975T>G (p.Val992Gly)
c.3155T>G (p.Val1052Gly)
c.2822T>G (p.Val941Gly)
 ClinVar
7g.117610596G>ACA457229414CFTRc.3066G>A (p.Val1022=)
c.*2780G>A (n.*2780G>A)
c.2883G>A (p.Val961=)
c.*1366G>A (n.*1366G>A)
c.*2890G>A (n.*2890G>A)
c.2640G>A (p.Val880=)
c.657G>A (p.Val219=)
c.716G>A
c.1848G>A (p.Val616=)
c.2976G>A (p.Val992=)
c.3156G>A (p.Val1052=)
c.2823G>A (p.Val941=)
 ClinVar
7g.117610596G>CCA457229415CFTRc.3066G>C (p.Val1022=)
c.*2780G>C (n.*2780G>C)
c.2883G>C (p.Val961=)
c.*1366G>C (n.*1366G>C)
c.*2890G>C (n.*2890G>C)
c.2640G>C (p.Val880=)
c.657G>C (p.Val219=)
c.716G>C
c.1848G>C (p.Val616=)
c.2976G>C (p.Val992=)
c.3156G>C (p.Val1052=)
c.2823G>C (p.Val941=)
7g.117610596G>TCA457229413CFTRc.3066G>T (p.Val1022=)
c.*2780G>T (n.*2780G>T)
c.2883G>T (p.Val961=)
c.*1366G>T (n.*1366G>T)
c.*2890G>T (n.*2890G>T)
c.2640G>T (p.Val880=)
c.657G>T (p.Val219=)
c.716G>T
c.1848G>T (p.Val616=)
c.2976G>T (p.Val992=)
c.3156G>T (p.Val1052=)
c.2823G>T (p.Val941=)
 COSMIC
7g.117610597A=CA1737384982CFTRc.3067A= (p.Ile1023=)
c.*2781A= (n.*2781A=)
c.2884A= (p.Ile962=)
c.*1367A= (n.*1367A=)
c.*2891A= (n.*2891A=)
c.2641A= (p.Ile881=)
c.658A= (p.Ile220=)
c.717A=
c.1849A= (p.Ile617=)
c.2977A= (p.Ile993=)
c.3157A= (p.Ile1053=)
c.2824A= (p.Ile942=)
7g.117610597A>CCA368990696CFTRc.3067A>C (p.Ile1023Leu)
c.*2781A>C (n.*2781A>C)
c.2884A>C (p.Ile962Leu)
c.*1367A>C (n.*1367A>C)
c.*2891A>C (n.*2891A>C)
c.2641A>C (p.Ile881Leu)
c.658A>C (p.Ile220Leu)
c.717A>C
c.1849A>C (p.Ile617Leu)
c.2977A>C (p.Ile993Leu)
c.3157A>C (p.Ile1053Leu)
c.2824A>C (p.Ile942Leu)
7g.117610597A>GCA368990698CFTRc.3067A>G (p.Ile1023Val)
c.*2781A>G (n.*2781A>G)
c.2884A>G (p.Ile962Val)
c.*1367A>G (n.*1367A>G)
c.*2891A>G (n.*2891A>G)
c.2641A>G (p.Ile881Val)
c.658A>G (p.Ile220Val)
c.717A>G
c.1849A>G (p.Ile617Val)
c.2977A>G (p.Ile993Val)
c.3157A>G (p.Ile1053Val)
c.2824A>G (p.Ile942Val)
 dbSNP gnomAD v2 gnomAD v4
7g.117610597A>TCA368990701CFTRc.3067A>T (p.Ile1023Leu)
c.*2781A>T (n.*2781A>T)
c.2884A>T (p.Ile962Leu)
c.*1367A>T (n.*1367A>T)
c.*2891A>T (n.*2891A>T)
c.2641A>T (p.Ile881Leu)
c.658A>T (p.Ile220Leu)
c.717A>T
c.1849A>T (p.Ile617Leu)
c.2977A>T (p.Ile993Leu)
c.3157A>T (p.Ile1053Leu)
c.2824A>T (p.Ile942Leu)
7g.117610597_117610602delinsATAGTGCA1737384981CFTRc.3067_3072delinsATAGTG (p.Ile1023=)
c.*2781_*2786delinsATAGTG (n.*2781_*2786delinsATAGTG)
c.2884_2889delinsATAGTG (p.Ile962=)
c.*1367_*1372delinsATAGTG (n.*1367_*1372delinsATAGTG)
c.*2891_*2896delinsATAGTG (n.*2891_*2896delinsATAGTG)
c.2641_2646delinsATAGTG (p.Ile881=)
c.658_663delinsATAGTG (p.Ile220=)
c.717_722delinsATAGTG
c.1849_1854delinsATAGTG (p.Ile617=)
c.2977_2982delinsATAGTG (p.Ile993=)
c.3157_3162delinsATAGTG (p.Ile1053=)
c.2824_2829delinsATAGTG (p.Ile942=)
7g.117610597_117610602delinsCACTATCA164965248CFTRc.3067_3072delinsCACTAT (p.Ile1023_Val1024delinsHisTyr)
c.*2781_*2786delinsCACTAT (n.*2781_*2786delinsCACTAT)
c.2884_2889delinsCACTAT (p.Ile962_Val963delinsHisTyr)
c.*1367_*1372delinsCACTAT (n.*1367_*1372delinsCACTAT)
c.*2891_*2896delinsCACTAT (n.*2891_*2896delinsCACTAT)
c.2641_2646delinsCACTAT (p.Ile881_Val882delinsHisTyr)
c.658_663delinsCACTAT (p.Ile220_Val221delinsHisTyr)
c.717_722delinsCACTAT
c.1849_1854delinsCACTAT (p.Ile617_Val618delinsHisTyr)
c.2977_2982delinsCACTAT (p.Ile993_Val994delinsHisTyr)
c.3157_3162delinsCACTAT (p.Ile1053_Val1054delinsHisTyr)
c.2824_2829delinsCACTAT (p.Ile942_Val943delinsHisTyr)
7g.117610598T>ACA368990706CFTRc.3068T>A (p.Ile1023Lys)
c.*2782T>A (n.*2782T>A)
c.2885T>A (p.Ile962Lys)
c.*1368T>A (n.*1368T>A)
c.*2892T>A (n.*2892T>A)
c.2642T>A (p.Ile881Lys)
c.659T>A (p.Ile220Lys)
c.718T>A
c.1850T>A (p.Ile617Lys)
c.2978T>A (p.Ile993Lys)
c.3158T>A (p.Ile1053Lys)
c.2825T>A (p.Ile942Lys)
7g.117610598T>CCA164965281CFTRc.3068T>C (p.Ile1023Thr)
c.*2782T>C (n.*2782T>C)
c.2885T>C (p.Ile962Thr)
c.*1368T>C (n.*1368T>C)
c.*2892T>C (n.*2892T>C)
c.2642T>C (p.Ile881Thr)
c.659T>C (p.Ile220Thr)
c.718T>C
c.1850T>C (p.Ile617Thr)
c.2978T>C (p.Ile993Thr)
c.3158T>C (p.Ile1053Thr)
c.2825T>C (p.Ile942Thr)
 dbSNP
7g.117610598T>GCA4451372CFTRc.3068T>G (p.Ile1023Arg)
c.*2782T>G (n.*2782T>G)
c.2885T>G (p.Ile962Arg)
c.*1368T>G (n.*1368T>G)
c.*2892T>G (n.*2892T>G)
c.2642T>G (p.Ile881Arg)
c.659T>G (p.Ile220Arg)
c.718T>G
c.1850T>G (p.Ile617Arg)
c.2978T>G (p.Ile993Arg)
c.3158T>G (p.Ile1053Arg)
c.2825T>G (p.Ile942Arg)
 ClinVar dbSNP ExAC gnomAD v2
7g.117610598T=CA1737384997CFTRc.3068T= (p.Ile1023=)
c.*2782T= (n.*2782T=)
c.2885T= (p.Ile962=)
c.*1368T= (n.*1368T=)
c.*2892T= (n.*2892T=)
c.2642T= (p.Ile881=)
c.659T= (p.Ile220=)
c.718T=
c.1850T= (p.Ile617=)
c.2978T= (p.Ile993=)
c.3158T= (p.Ile1053=)
c.2825T= (p.Ile942=)
7g.117610598_117610602delCA327037CFTRc.3068_3072del (p.Ile1023SerfsTer22)
c.*2782_*2786del (n.*2782_*2786del)
c.2885_2889del (p.Ile962SerfsTer22)
c.*1368_*1372del (n.*1368_*1372del)
c.*2892_*2896del (n.*2892_*2896del)
c.2642_2646del (p.Ile881SerfsTer22)
c.659_663del (p.Ile220SerfsTer22)
c.718_722del
c.1850_1854del (p.Ile617SerfsTer22)
c.2978_2982del (p.Ile993SerfsTer22)
c.3158_3162del (p.Ile1053SerfsTer22)
c.2825_2829del (p.Ile942SerfsTer22)
 ClinVar dbSNP
7g.117610599A=CA1737385002CFTRc.3069A= (p.Ile1023=)
c.*2783A= (n.*2783A=)
c.2886A= (p.Ile962=)
c.*1369A= (n.*1369A=)
c.*2893A= (n.*2893A=)
c.2643A= (p.Ile881=)
c.660A= (p.Ile220=)
c.719A=
c.1851A= (p.Ile617=)
c.2979A= (p.Ile993=)
c.3159A= (p.Ile1053=)
c.2826A= (p.Ile942=)
7g.117610599A>CCA457229416CFTRc.3069A>C (p.Ile1023=)
c.*2783A>C (n.*2783A>C)
c.2886A>C (p.Ile962=)
c.*1369A>C (n.*1369A>C)
c.*2893A>C (n.*2893A>C)
c.2643A>C (p.Ile881=)
c.660A>C (p.Ile220=)
c.719A>C
c.1851A>C (p.Ile617=)
c.2979A>C (p.Ile993=)
c.3159A>C (p.Ile1053=)
c.2826A>C (p.Ile942=)
7g.117610599A>GCA368990710CFTRc.3069A>G (p.Ile1023Met)
c.*2783A>G (n.*2783A>G)
c.2886A>G (p.Ile962Met)
c.*1369A>G (n.*1369A>G)
c.*2893A>G (n.*2893A>G)
c.2643A>G (p.Ile881Met)
c.660A>G (p.Ile220Met)
c.719A>G
c.1851A>G (p.Ile617Met)
c.2979A>G (p.Ile993Met)
c.3159A>G (p.Ile1053Met)
c.2826A>G (p.Ile942Met)
 dbSNP
7g.117610599A>TCA457229417CFTRc.3069A>T (p.Ile1023=)
c.*2783A>T (n.*2783A>T)
c.2886A>T (p.Ile962=)
c.*1369A>T (n.*1369A>T)
c.*2893A>T (n.*2893A>T)
c.2643A>T (p.Ile881=)
c.660A>T (p.Ile220=)
c.719A>T
c.1851A>T (p.Ile617=)
c.2979A>T (p.Ile993=)
c.3159A>T (p.Ile1053=)
c.2826A>T (p.Ile942=)
7g.117610600G>ACA368990714CFTRc.3070G>A (p.Val1024Met)
c.*2784G>A (n.*2784G>A)
c.2887G>A (p.Val963Met)
c.*1370G>A (n.*1370G>A)
c.*2894G>A (n.*2894G>A)
c.2644G>A (p.Val882Met)
c.661G>A (p.Val221Met)
c.720G>A
c.1852G>A (p.Val618Met)
c.2980G>A (p.Val994Met)
c.3160G>A (p.Val1054Met)
c.2827G>A (p.Val943Met)
 ClinVar COSMIC
7g.117610600G>CCA368990716CFTRc.3070G>C (p.Val1024Leu)
c.*2784G>C (n.*2784G>C)
c.2887G>C (p.Val963Leu)
c.*1370G>C (n.*1370G>C)
c.*2894G>C (n.*2894G>C)
c.2644G>C (p.Val882Leu)
c.661G>C (p.Val221Leu)
c.720G>C
c.1852G>C (p.Val618Leu)
c.2980G>C (p.Val994Leu)
c.3160G>C (p.Val1054Leu)
c.2827G>C (p.Val943Leu)
7g.117610600G>TCA368990718CFTRc.3070G>T (p.Val1024Leu)
c.*2784G>T (n.*2784G>T)
c.2887G>T (p.Val963Leu)
c.*1370G>T (n.*1370G>T)
c.*2894G>T (n.*2894G>T)
c.2644G>T (p.Val882Leu)
c.661G>T (p.Val221Leu)
c.720G>T
c.1852G>T (p.Val618Leu)
c.2980G>T (p.Val994Leu)
c.3160G>T (p.Val1054Leu)
c.2827G>T (p.Val943Leu)
7g.117610601T>ACA368990721CFTRc.3071T>A (p.Val1024Glu)
c.*2785T>A (n.*2785T>A)
c.2888T>A (p.Val963Glu)
c.*1371T>A (n.*1371T>A)
c.*2895T>A (n.*2895T>A)
c.2645T>A (p.Val882Glu)
c.662T>A (p.Val221Glu)
c.721T>A
c.1853T>A (p.Val618Glu)
c.2981T>A (p.Val994Glu)
c.3161T>A (p.Val1054Glu)
c.2828T>A (p.Val943Glu)
 ClinVar
7g.117610601T>CCA368990722CFTRc.3071T>C (p.Val1024Ala)
c.*2785T>C (n.*2785T>C)
c.2888T>C (p.Val963Ala)
c.*1371T>C (n.*1371T>C)
c.*2895T>C (n.*2895T>C)
c.2645T>C (p.Val882Ala)
c.662T>C (p.Val221Ala)
c.721T>C
c.1853T>C (p.Val618Ala)
c.2981T>C (p.Val994Ala)
c.3161T>C (p.Val1054Ala)
c.2828T>C (p.Val943Ala)
7g.117610601T>GCA368990723CFTRc.3071T>G (p.Val1024Gly)
c.*2785T>G (n.*2785T>G)
c.2888T>G (p.Val963Gly)
c.*1371T>G (n.*1371T>G)
c.*2895T>G (n.*2895T>G)
c.2645T>G (p.Val882Gly)
c.662T>G (p.Val221Gly)
c.721T>G
c.1853T>G (p.Val618Gly)
c.2981T>G (p.Val994Gly)
c.3161T>G (p.Val1054Gly)
c.2828T>G (p.Val943Gly)
7g.117610602G>ACA457229418CFTRc.3072G>A (p.Val1024=)
c.*2786G>A (n.*2786G>A)
c.2889G>A (p.Val963=)
c.*1372G>A (n.*1372G>A)
c.*2896G>A (n.*2896G>A)
c.2646G>A (p.Val882=)
c.663G>A (p.Val221=)
c.722G>A
c.1854G>A (p.Val618=)
c.2982G>A (p.Val994=)
c.3162G>A (p.Val1054=)
c.2829G>A (p.Val943=)
7g.117610602G>CCA457229419CFTRc.3072G>C (p.Val1024=)
c.*2786G>C (n.*2786G>C)
c.2889G>C (p.Val963=)
c.*1372G>C (n.*1372G>C)
c.*2896G>C (n.*2896G>C)
c.2646G>C (p.Val882=)
c.663G>C (p.Val221=)
c.722G>C
c.1854G>C (p.Val618=)
c.2982G>C (p.Val994=)
c.3162G>C (p.Val1054=)
c.2829G>C (p.Val943=)
7g.117610602G>TCA457229420CFTRc.3072G>T (p.Val1024=)
c.*2786G>T (n.*2786G>T)
c.2889G>T (p.Val963=)
c.*1372G>T (n.*1372G>T)
c.*2896G>T (n.*2896G>T)
c.2646G>T (p.Val882=)
c.663G>T (p.Val221=)
c.722G>T
c.1854G>T (p.Val618=)
c.2982G>T (p.Val994=)
c.3162G>T (p.Val1054=)
c.2829G>T (p.Val943=)
7g.117610603G>ACA368990724CFTRc.3073G>A (p.Ala1025Thr)
c.*2787G>A (n.*2787G>A)
c.2890G>A (p.Ala964Thr)
c.*1373G>A (n.*1373G>A)
c.*2897G>A (n.*2897G>A)
c.2647G>A (p.Ala883Thr)
c.664G>A (p.Ala222Thr)
c.723G>A
c.1855G>A (p.Ala619Thr)
c.2983G>A (p.Ala995Thr)
c.3163G>A (p.Ala1055Thr)
c.2830G>A (p.Ala944Thr)
7g.117610603G>CCA368990725CFTRc.3073G>C (p.Ala1025Pro)
c.*2787G>C (n.*2787G>C)
c.2890G>C (p.Ala964Pro)
c.*1373G>C (n.*1373G>C)
c.*2897G>C (n.*2897G>C)
c.2647G>C (p.Ala883Pro)
c.664G>C (p.Ala222Pro)
c.723G>C
c.1855G>C (p.Ala619Pro)
c.2983G>C (p.Ala995Pro)
c.3163G>C (p.Ala1055Pro)
c.2830G>C (p.Ala944Pro)
7g.117610603G=CA1737385006CFTRc.3073G= (p.Ala1025=)
c.*2787G= (n.*2787G=)
c.2890G= (p.Ala964=)
c.*1373G= (n.*1373G=)
c.*2897G= (n.*2897G=)
c.2647G= (p.Ala883=)
c.664G= (p.Ala222=)
c.723G=
c.1855G= (p.Ala619=)
c.2983G= (p.Ala995=)
c.3163G= (p.Ala1055=)
c.2830G= (p.Ala944=)
7g.117610603G>TCA368990726CFTRc.3073G>T (p.Ala1025Ser)
c.*2787G>T (n.*2787G>T)
c.2890G>T (p.Ala964Ser)
c.*1373G>T (n.*1373G>T)
c.*2897G>T (n.*2897G>T)
c.2647G>T (p.Ala883Ser)
c.664G>T (p.Ala222Ser)
c.723G>T
c.1855G>T (p.Ala619Ser)
c.2983G>T (p.Ala995Ser)
c.3163G>T (p.Ala1055Ser)
c.2830G>T (p.Ala944Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117610604C>ACA368990727CFTRc.3074C>A (p.Ala1025Asp)
c.*2788C>A (n.*2788C>A)
c.2891C>A (p.Ala964Asp)
c.*1374C>A (n.*1374C>A)
c.*2898C>A (n.*2898C>A)
c.2648C>A (p.Ala883Asp)
c.665C>A (p.Ala222Asp)
c.724C>A
c.1856C>A (p.Ala619Asp)
c.2984C>A (p.Ala995Asp)
c.3164C>A (p.Ala1055Asp)
c.2831C>A (p.Ala944Asp)
7g.117610604C=CA1737385010CFTRc.3074C= (p.Ala1025=)
c.*2788C= (n.*2788C=)
c.2891C= (p.Ala964=)
c.*1374C= (n.*1374C=)
c.*2898C= (n.*2898C=)
c.2648C= (p.Ala883=)
c.665C= (p.Ala222=)
c.724C=
c.1856C= (p.Ala619=)
c.2984C= (p.Ala995=)
c.3164C= (p.Ala1055=)
c.2831C= (p.Ala944=)
7g.117610604C>GCA368990728CFTRc.3074C>G (p.Ala1025Gly)
c.*2788C>G (n.*2788C>G)
c.2891C>G (p.Ala964Gly)
c.*1374C>G (n.*1374C>G)
c.*2898C>G (n.*2898C>G)
c.2648C>G (p.Ala883Gly)
c.665C>G (p.Ala222Gly)
c.724C>G
c.1856C>G (p.Ala619Gly)
c.2984C>G (p.Ala995Gly)
c.3164C>G (p.Ala1055Gly)
c.2831C>G (p.Ala944Gly)
7g.117610604C>TCA4451373CFTRc.3074C>T (p.Ala1025Val)
c.*2788C>T (n.*2788C>T)
c.2891C>T (p.Ala964Val)
c.*1374C>T (n.*1374C>T)
c.*2898C>T (n.*2898C>T)
c.2648C>T (p.Ala883Val)
c.665C>T (p.Ala222Val)
c.724C>T
c.1856C>T (p.Ala619Val)
c.2984C>T (p.Ala995Val)
c.3164C>T (p.Ala1055Val)
c.2831C>T (p.Ala944Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117610605T>ACA457229423CFTRc.3075T>A (p.Ala1025=)
c.*2789T>A (n.*2789T>A)
c.2892T>A (p.Ala964=)
c.*1375T>A (n.*1375T>A)
c.*2899T>A (n.*2899T>A)
c.2649T>A (p.Ala883=)
c.666T>A (p.Ala222=)
c.725T>A
c.1857T>A (p.Ala619=)
c.2985T>A (p.Ala995=)
c.3165T>A (p.Ala1055=)
c.2832T>A (p.Ala944=)
7g.117610605T>CCA457229422CFTRc.3075T>C (p.Ala1025=)
c.*2789T>C (n.*2789T>C)
c.2892T>C (p.Ala964=)
c.*1375T>C (n.*1375T>C)
c.*2899T>C (n.*2899T>C)
c.2649T>C (p.Ala883=)
c.666T>C (p.Ala222=)
c.725T>C
c.1857T>C (p.Ala619=)
c.2985T>C (p.Ala995=)
c.3165T>C (p.Ala1055=)
c.2832T>C (p.Ala944=)
7g.117610605T>GCA457229421CFTRc.3075T>G (p.Ala1025=)
c.*2789T>G (n.*2789T>G)
c.2892T>G (p.Ala964=)
c.*1375T>G (n.*1375T>G)
c.*2899T>G (n.*2899T>G)
c.2649T>G (p.Ala883=)
c.666T>G (p.Ala222=)
c.725T>G
c.1857T>G (p.Ala619=)
c.2985T>G (p.Ala995=)
c.3165T>G (p.Ala1055=)
c.2832T>G (p.Ala944=)
 ClinVar dbSNP
7g.117610608delCA2695199627CFTRc.3078del (p.Phe1026LeufsTer4)
c.*2792del (n.*2792del)
c.2895del (p.Phe965LeufsTer4)
c.*1378del (n.*1378del)
c.*2902del (n.*2902del)
c.2652del (p.Phe884LeufsTer4)
c.669del (p.Phe223LeufsTer4)
c.728del
c.1860del (p.Phe620LeufsTer4)
c.2988del (p.Phe996LeufsTer4)
c.3168del (p.Phe1056LeufsTer4)
c.2835del (p.Phe945LeufsTer4)
 ClinVar
7g.117610606T>ACA368990730CFTRc.3076T>A (p.Phe1026Ile)
c.*2790T>A (n.*2790T>A)
c.2893T>A (p.Phe965Ile)
c.*1376T>A (n.*1376T>A)
c.*2900T>A (n.*2900T>A)
c.2650T>A (p.Phe884Ile)
c.667T>A (p.Phe223Ile)
c.726T>A
c.1858T>A (p.Phe620Ile)
c.2986T>A (p.Phe996Ile)
c.3166T>A (p.Phe1056Ile)
c.2833T>A (p.Phe945Ile)
7g.117610606T>CCA368990731CFTRc.3076T>C (p.Phe1026Leu)
c.*2790T>C (n.*2790T>C)
c.2893T>C (p.Phe965Leu)
c.*1376T>C (n.*1376T>C)
c.*2900T>C (n.*2900T>C)
c.2650T>C (p.Phe884Leu)
c.667T>C (p.Phe223Leu)
c.726T>C
c.1858T>C (p.Phe620Leu)
c.2986T>C (p.Phe996Leu)
c.3166T>C (p.Phe1056Leu)
c.2833T>C (p.Phe945Leu)
7g.117610606T>GCA368990729CFTRc.3076T>G (p.Phe1026Val)
c.*2790T>G (n.*2790T>G)
c.2893T>G (p.Phe965Val)
c.*1376T>G (n.*1376T>G)
c.*2900T>G (n.*2900T>G)
c.2650T>G (p.Phe884Val)
c.667T>G (p.Phe223Val)
c.726T>G
c.1858T>G (p.Phe620Val)
c.2986T>G (p.Phe996Val)
c.3166T>G (p.Phe1056Val)
c.2833T>G (p.Phe945Val)
 ClinVar
7g.117610607T>ACA368990732CFTRc.3077T>A (p.Phe1026Tyr)
c.*2791T>A (n.*2791T>A)
c.2894T>A (p.Phe965Tyr)
c.*1377T>A (n.*1377T>A)
c.*2901T>A (n.*2901T>A)
c.2651T>A (p.Phe884Tyr)
c.668T>A (p.Phe223Tyr)
c.727T>A
c.1859T>A (p.Phe620Tyr)
c.2987T>A (p.Phe996Tyr)
c.3167T>A (p.Phe1056Tyr)
c.2834T>A (p.Phe945Tyr)
7g.117610607T>CCA368990733CFTRc.3077T>C (p.Phe1026Ser)
c.*2791T>C (n.*2791T>C)
c.2894T>C (p.Phe965Ser)
c.*1377T>C (n.*1377T>C)
c.*2901T>C (n.*2901T>C)
c.2651T>C (p.Phe884Ser)
c.668T>C (p.Phe223Ser)
c.727T>C
c.1859T>C (p.Phe620Ser)
c.2987T>C (p.Phe996Ser)
c.3167T>C (p.Phe1056Ser)
c.2834T>C (p.Phe945Ser)
7g.117610607T>GCA368990734CFTRc.3077T>G (p.Phe1026Cys)
c.*2791T>G (n.*2791T>G)
c.2894T>G (p.Phe965Cys)
c.*1377T>G (n.*1377T>G)
c.*2901T>G (n.*2901T>G)
c.2651T>G (p.Phe884Cys)
c.668T>G (p.Phe223Cys)
c.727T>G
c.1859T>G (p.Phe620Cys)
c.2987T>G (p.Phe996Cys)
c.3167T>G (p.Phe1056Cys)
c.2834T>G (p.Phe945Cys)
7g.117610608T>ACA368990735CFTRc.3078T>A (p.Phe1026Leu)
c.*2792T>A (n.*2792T>A)
c.2895T>A (p.Phe965Leu)
c.*1378T>A (n.*1378T>A)
c.*2902T>A (n.*2902T>A)
c.2652T>A (p.Phe884Leu)
c.669T>A (p.Phe223Leu)
c.728T>A
c.1860T>A (p.Phe620Leu)
c.2988T>A (p.Phe996Leu)
c.3168T>A (p.Phe1056Leu)
c.2835T>A (p.Phe945Leu)
7g.117610608T>CCA457229424CFTRc.3078T>C (p.Phe1026=)
c.*2792T>C (n.*2792T>C)
c.2895T>C (p.Phe965=)
c.*1378T>C (n.*1378T>C)
c.*2902T>C (n.*2902T>C)
c.2652T>C (p.Phe884=)
c.669T>C (p.Phe223=)
c.728T>C
c.1860T>C (p.Phe620=)
c.2988T>C (p.Phe996=)
c.3168T>C (p.Phe1056=)
c.2835T>C (p.Phe945=)
7g.117610608T>GCA368990736CFTRc.3078T>G (p.Phe1026Leu)
c.*2792T>G (n.*2792T>G)
c.2895T>G (p.Phe965Leu)
c.*1378T>G (n.*1378T>G)
c.*2902T>G (n.*2902T>G)
c.2652T>G (p.Phe884Leu)
c.669T>G (p.Phe223Leu)
c.728T>G
c.1860T>G (p.Phe620Leu)
c.2988T>G (p.Phe996Leu)
c.3168T>G (p.Phe1056Leu)
c.2835T>G (p.Phe945Leu)
7g.117610609A=CA1737385013CFTRc.3079A= (p.Ile1027=)
c.*2793A= (n.*2793A=)
c.2896A= (p.Ile966=)
c.*1379A= (n.*1379A=)
c.*2903A= (n.*2903A=)
c.2653A= (p.Ile885=)
c.670A= (p.Ile224=)
c.729A=
c.1861A= (p.Ile621=)
c.2989A= (p.Ile997=)
c.3169A= (p.Ile1057=)
c.2836A= (p.Ile946=)
7g.117610609A>CCA368990738CFTRc.3079A>C (p.Ile1027Leu)
c.*2793A>C (n.*2793A>C)
c.2896A>C (p.Ile966Leu)
c.*1379A>C (n.*1379A>C)
c.*2903A>C (n.*2903A>C)
c.2653A>C (p.Ile885Leu)
c.670A>C (p.Ile224Leu)
c.729A>C
c.1861A>C (p.Ile621Leu)
c.2989A>C (p.Ile997Leu)
c.3169A>C (p.Ile1057Leu)
c.2836A>C (p.Ile946Leu)
7g.117610609A>GCA368990737CFTRc.3079A>G (p.Ile1027Val)
c.*2793A>G (n.*2793A>G)
c.2896A>G (p.Ile966Val)
c.*1379A>G (n.*1379A>G)
c.*2903A>G (n.*2903A>G)
c.2653A>G (p.Ile885Val)
c.670A>G (p.Ile224Val)
c.729A>G
c.1861A>G (p.Ile621Val)
c.2989A>G (p.Ile997Val)
c.3169A>G (p.Ile1057Val)
c.2836A>G (p.Ile946Val)
7g.117610609A>TCA164965295CFTRc.3079A>T (p.Ile1027Phe)
c.*2793A>T (n.*2793A>T)
c.2896A>T (p.Ile966Phe)
c.*1379A>T (n.*1379A>T)
c.*2903A>T (n.*2903A>T)
c.2653A>T (p.Ile885Phe)
c.670A>T (p.Ile224Phe)
c.729A>T
c.1861A>T (p.Ile621Phe)
c.2989A>T (p.Ile997Phe)
c.3169A>T (p.Ile1057Phe)
c.2836A>T (p.Ile946Phe)
 dbSNP
7g.117610610T>ACA368990739CFTRc.3080T>A (p.Ile1027Asn)
c.*2794T>A (n.*2794T>A)
c.2897T>A (p.Ile966Asn)
c.*1380T>A (n.*1380T>A)
c.*2904T>A (n.*2904T>A)
c.2654T>A (p.Ile885Asn)
c.671T>A (p.Ile224Asn)
c.730T>A
c.1862T>A (p.Ile621Asn)
c.2990T>A (p.Ile997Asn)
c.3170T>A (p.Ile1057Asn)
c.2837T>A (p.Ile946Asn)
7g.117610610T>CCA146697CFTRc.3080T>C (p.Ile1027Thr)
c.*2794T>C (n.*2794T>C)
c.2897T>C (p.Ile966Thr)
c.*1380T>C (n.*1380T>C)
c.*2904T>C (n.*2904T>C)
c.2654T>C (p.Ile885Thr)
c.671T>C (p.Ile224Thr)
c.730T>C
c.1862T>C (p.Ile621Thr)
c.2990T>C (p.Ile997Thr)
c.3170T>C (p.Ile1057Thr)
c.2837T>C (p.Ile946Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117610610T>GCA368990740CFTRc.3080T>G (p.Ile1027Ser)
c.*2794T>G (n.*2794T>G)
c.2897T>G (p.Ile966Ser)
c.*1380T>G (n.*1380T>G)
c.*2904T>G (n.*2904T>G)
c.2654T>G (p.Ile885Ser)
c.671T>G (p.Ile224Ser)
c.730T>G
c.1862T>G (p.Ile621Ser)
c.2990T>G (p.Ile997Ser)
c.3170T>G (p.Ile1057Ser)
c.2837T>G (p.Ile946Ser)
7g.117610610T=CA1737385021CFTRc.3080T= (p.Ile1027=)
c.*2794T= (n.*2794T=)
c.2897T= (p.Ile966=)
c.*1380T= (n.*1380T=)
c.*2904T= (n.*2904T=)
c.2654T= (p.Ile885=)
c.671T= (p.Ile224=)
c.730T=
c.1862T= (p.Ile621=)
c.2990T= (p.Ile997=)
c.3170T= (p.Ile1057=)
c.2837T= (p.Ile946=)
7g.117610611T>ACA4451374CFTRc.3081T>A (p.Ile1027=)
c.*2795T>A (n.*2795T>A)
c.2898T>A (p.Ile966=)
c.*1381T>A (n.*1381T>A)
c.*2905T>A (n.*2905T>A)
c.2655T>A (p.Ile885=)
c.672T>A (p.Ile224=)
c.731T>A
c.1863T>A (p.Ile621=)
c.2991T>A (p.Ile997=)
c.3171T>A (p.Ile1057=)
c.2838T>A (p.Ile946=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117610611T>CCA457229425CFTRc.3081T>C (p.Ile1027=)
c.*2795T>C (n.*2795T>C)
c.2898T>C (p.Ile966=)
c.*1381T>C (n.*1381T>C)
c.*2905T>C (n.*2905T>C)
c.2655T>C (p.Ile885=)
c.672T>C (p.Ile224=)
c.731T>C
c.1863T>C (p.Ile621=)
c.2991T>C (p.Ile997=)
c.3171T>C (p.Ile1057=)
c.2838T>C (p.Ile946=)
7g.117610611T>GCA368990741CFTRc.3081T>G (p.Ile1027Met)
c.*2795T>G (n.*2795T>G)
c.2898T>G (p.Ile966Met)
c.*1381T>G (n.*1381T>G)
c.*2905T>G (n.*2905T>G)
c.2655T>G (p.Ile885Met)
c.672T>G (p.Ile224Met)
c.731T>G
c.1863T>G (p.Ile621Met)
c.2991T>G (p.Ile997Met)
c.3171T>G (p.Ile1057Met)
c.2838T>G (p.Ile946Met)
7g.117610611T=CA1737385031CFTRc.3081T= (p.Ile1027=)
c.*2795T= (n.*2795T=)
c.2898T= (p.Ile966=)
c.*1381T= (n.*1381T=)
c.*2905T= (n.*2905T=)
c.2655T= (p.Ile885=)
c.672T= (p.Ile224=)
c.731T=
c.1863T= (p.Ile621=)
c.2991T= (p.Ile997=)
c.3171T= (p.Ile1057=)
c.2838T= (p.Ile946=)
7g.117610612A=CA1737385033CFTRc.3082A= (p.Met1028=)
c.*2796A= (n.*2796A=)
c.2899A= (p.Met967=)
c.*1382A= (n.*1382A=)
c.*2906A= (n.*2906A=)
c.2656A= (p.Met886=)
c.673A= (p.Met225=)
c.732A=
c.1864A= (p.Met622=)
c.2992A= (p.Met998=)
c.3172A= (p.Met1058=)
c.2839A= (p.Met947=)
7g.117610612A>CCA368990743CFTRc.3082A>C (p.Met1028Leu)
c.*2796A>C (n.*2796A>C)
c.2899A>C (p.Met967Leu)
c.*1382A>C (n.*1382A>C)
c.*2906A>C (n.*2906A>C)
c.2656A>C (p.Met886Leu)
c.673A>C (p.Met225Leu)
c.732A>C
c.1864A>C (p.Met622Leu)
c.2992A>C (p.Met998Leu)
c.3172A>C (p.Met1058Leu)
c.2839A>C (p.Met947Leu)
7g.117610612A>GCA164965316CFTRc.3082A>G (p.Met1028Val)
c.*2796A>G (n.*2796A>G)
c.2899A>G (p.Met967Val)
c.*1382A>G (n.*1382A>G)
c.*2906A>G (n.*2906A>G)
c.2656A>G (p.Met886Val)
c.673A>G (p.Met225Val)
c.732A>G
c.1864A>G (p.Met622Val)
c.2992A>G (p.Met998Val)
c.3172A>G (p.Met1058Val)
c.2839A>G (p.Met947Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117610612A>TCA368990742CFTRc.3082A>T (p.Met1028Leu)
c.*2796A>T (n.*2796A>T)
c.2899A>T (p.Met967Leu)
c.*1382A>T (n.*1382A>T)
c.*2906A>T (n.*2906A>T)
c.2656A>T (p.Met886Leu)
c.673A>T (p.Met225Leu)
c.732A>T
c.1864A>T (p.Met622Leu)
c.2992A>T (p.Met998Leu)
c.3172A>T (p.Met1058Leu)
c.2839A>T (p.Met947Leu)

Number of alleles fetched