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.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.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.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.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.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)
7g.117610613T>ACA368990744CFTRc.3083T>A (p.Met1028Lys)
c.*2797T>A (n.*2797T>A)
c.2900T>A (p.Met967Lys)
c.*1383T>A (n.*1383T>A)
c.*2907T>A (n.*2907T>A)
c.2657T>A (p.Met886Lys)
c.674T>A (p.Met225Lys)
c.733T>A
c.1865T>A (p.Met622Lys)
c.2993T>A (p.Met998Lys)
c.3173T>A (p.Met1058Lys)
c.2840T>A (p.Met947Lys)
7g.117610613T>CCA368990745CFTRc.3083T>C (p.Met1028Thr)
c.*2797T>C (n.*2797T>C)
c.2900T>C (p.Met967Thr)
c.*1383T>C (n.*1383T>C)
c.*2907T>C (n.*2907T>C)
c.2657T>C (p.Met886Thr)
c.674T>C (p.Met225Thr)
c.733T>C
c.1865T>C (p.Met622Thr)
c.2993T>C (p.Met998Thr)
c.3173T>C (p.Met1058Thr)
c.2840T>C (p.Met947Thr)
7g.117610613T>GCA327038CFTRc.3083T>G (p.Met1028Arg)
c.*2797T>G (n.*2797T>G)
c.2900T>G (p.Met967Arg)
c.*1383T>G (n.*1383T>G)
c.*2907T>G (n.*2907T>G)
c.2657T>G (p.Met886Arg)
c.674T>G (p.Met225Arg)
c.733T>G
c.1865T>G (p.Met622Arg)
c.2993T>G (p.Met998Arg)
c.3173T>G (p.Met1058Arg)
c.2840T>G (p.Met947Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117610613T=CA1737385034CFTRc.3083T= (p.Met1028=)
c.*2797T= (n.*2797T=)
c.2900T= (p.Met967=)
c.*1383T= (n.*1383T=)
c.*2907T= (n.*2907T=)
c.2657T= (p.Met886=)
c.674T= (p.Met225=)
c.733T=
c.1865T= (p.Met622=)
c.2993T= (p.Met998=)
c.3173T= (p.Met1058=)
c.2840T= (p.Met947=)
7g.117610614G>ACA368990746CFTRc.3084G>A (p.Met1028Ile)
c.*2798G>A (n.*2798G>A)
c.2901G>A (p.Met967Ile)
c.*1384G>A (n.*1384G>A)
c.*2908G>A (n.*2908G>A)
c.2658G>A (p.Met886Ile)
c.675G>A (p.Met225Ile)
c.734G>A
c.1866G>A (p.Met622Ile)
c.2994G>A (p.Met998Ile)
c.3174G>A (p.Met1058Ile)
c.2841G>A (p.Met947Ile)
 dbSNP gnomAD v2 gnomAD v4
7g.117610614G>CCA368990747CFTRc.3084G>C (p.Met1028Ile)
c.*2798G>C (n.*2798G>C)
c.2901G>C (p.Met967Ile)
c.*1384G>C (n.*1384G>C)
c.*2908G>C (n.*2908G>C)
c.2658G>C (p.Met886Ile)
c.675G>C (p.Met225Ile)
c.734G>C
c.1866G>C (p.Met622Ile)
c.2994G>C (p.Met998Ile)
c.3174G>C (p.Met1058Ile)
c.2841G>C (p.Met947Ile)
7g.117610614G=CA1737385037CFTRc.3084G= (p.Met1028=)
c.*2798G= (n.*2798G=)
c.2901G= (p.Met967=)
c.*1384G= (n.*1384G=)
c.*2908G= (n.*2908G=)
c.2658G= (p.Met886=)
c.675G= (p.Met225=)
c.734G=
c.1866G= (p.Met622=)
c.2994G= (p.Met998=)
c.3174G= (p.Met1058=)
c.2841G= (p.Met947=)
7g.117610614G>TCA327040CFTRc.3084G>T (p.Met1028Ile)
c.*2798G>T (n.*2798G>T)
c.2901G>T (p.Met967Ile)
c.*1384G>T (n.*1384G>T)
c.*2908G>T (n.*2908G>T)
c.2658G>T (p.Met886Ile)
c.675G>T (p.Met225Ile)
c.734G>T
c.1866G>T (p.Met622Ile)
c.2994G>T (p.Met998Ile)
c.3174G>T (p.Met1058Ile)
c.2841G>T (p.Met947Ile)
 ClinVar dbSNP gnomAD v4
7g.117610614_117610618delinsATGCA2695208431CFTRc.3084_3088delinsATG (p.Met1028IlefsTer18)
c.*2798_*2802delinsATG (n.*2798_*2802delinsATG)
c.2901_2905delinsATG (p.Met967IlefsTer18)
c.*1384_*1388delinsATG (n.*1384_*1388delinsATG)
c.*2908_*2912delinsATG (n.*2908_*2912delinsATG)
c.2658_2662delinsATG (p.Met886IlefsTer18)
c.675_679delinsATG (p.Met225IlefsTer18)
c.734_738delinsATG
c.1866_1870delinsATG (p.Met622IlefsTer18)
c.2994_2998delinsATG (p.Met998IlefsTer18)
c.3174_3178delinsATG (p.Met1058IlefsTer18)
c.2841_2845delinsATG (p.Met947IlefsTer18)
7g.117610615T>ACA368990748CFTRc.3085T>A (p.Leu1029Met)
c.*2799T>A (n.*2799T>A)
c.2902T>A (p.Leu968Met)
c.*1385T>A (n.*1385T>A)
c.*2909T>A (n.*2909T>A)
c.2659T>A (p.Leu887Met)
c.676T>A (p.Leu226Met)
c.735T>A
c.1867T>A (p.Leu623Met)
c.2995T>A (p.Leu999Met)
c.3175T>A (p.Leu1059Met)
c.2842T>A (p.Leu948Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117610615T>CCA457229426CFTRc.3085T>C (p.Leu1029=)
c.*2799T>C (n.*2799T>C)
c.2902T>C (p.Leu968=)
c.*1385T>C (n.*1385T>C)
c.*2909T>C (n.*2909T>C)
c.2659T>C (p.Leu887=)
c.676T>C (p.Leu226=)
c.735T>C
c.1867T>C (p.Leu623=)
c.2995T>C (p.Leu999=)
c.3175T>C (p.Leu1059=)
c.2842T>C (p.Leu948=)
 gnomAD v4
7g.117610615T>GCA368990749CFTRc.3085T>G (p.Leu1029Val)
c.*2799T>G (n.*2799T>G)
c.2902T>G (p.Leu968Val)
c.*1385T>G (n.*1385T>G)
c.*2909T>G (n.*2909T>G)
c.2659T>G (p.Leu887Val)
c.676T>G (p.Leu226Val)
c.735T>G
c.1867T>G (p.Leu623Val)
c.2995T>G (p.Leu999Val)
c.3175T>G (p.Leu1059Val)
c.2842T>G (p.Leu948Val)
7g.117610615T=CA1737385042CFTRc.3085T= (p.Leu1029=)
c.*2799T= (n.*2799T=)
c.2902T= (p.Leu968=)
c.*1385T= (n.*1385T=)
c.*2909T= (n.*2909T=)
c.2659T= (p.Leu887=)
c.676T= (p.Leu226=)
c.735T=
c.1867T= (p.Leu623=)
c.2995T= (p.Leu999=)
c.3175T= (p.Leu1059=)
c.2842T= (p.Leu948=)
7g.117610616T>ACA368990750CFTRc.3086T>A (p.Leu1029Ter)
c.*2800T>A (n.*2800T>A)
c.2903T>A (p.Leu968Ter)
c.*1386T>A (n.*1386T>A)
c.*2910T>A (n.*2910T>A)
c.2660T>A (p.Leu887Ter)
c.677T>A (p.Leu226Ter)
c.736T>A
c.1868T>A (p.Leu623Ter)
c.2996T>A (p.Leu999Ter)
c.3176T>A (p.Leu1059Ter)
c.2843T>A (p.Leu948Ter)
7g.117610616T>CCA368990752CFTRc.3086T>C (p.Leu1029Ser)
c.*2800T>C (n.*2800T>C)
c.2903T>C (p.Leu968Ser)
c.*1386T>C (n.*1386T>C)
c.*2910T>C (n.*2910T>C)
c.2660T>C (p.Leu887Ser)
c.677T>C (p.Leu226Ser)
c.736T>C
c.1868T>C (p.Leu623Ser)
c.2996T>C (p.Leu999Ser)
c.3176T>C (p.Leu1059Ser)
c.2843T>C (p.Leu948Ser)
 gnomAD v4
7g.117610616T>GCA368990751CFTRc.3086T>G (p.Leu1029Trp)
c.*2800T>G (n.*2800T>G)
c.2903T>G (p.Leu968Trp)
c.*1386T>G (n.*1386T>G)
c.*2910T>G (n.*2910T>G)
c.2660T>G (p.Leu887Trp)
c.677T>G (p.Leu226Trp)
c.736T>G
c.1868T>G (p.Leu623Trp)
c.2996T>G (p.Leu999Trp)
c.3176T>G (p.Leu1059Trp)
c.2843T>G (p.Leu948Trp)
7g.117610617G>ACA457229427CFTRc.3087G>A (p.Leu1029=)
c.*2801G>A (n.*2801G>A)
c.2904G>A (p.Leu968=)
c.*1387G>A (n.*1387G>A)
c.*2911G>A (n.*2911G>A)
c.2661G>A (p.Leu887=)
c.678G>A (p.Leu226=)
c.737G>A
c.1869G>A (p.Leu623=)
c.2997G>A (p.Leu999=)
c.3177G>A (p.Leu1059=)
c.2844G>A (p.Leu948=)
7g.117610617G>CCA368990753CFTRc.3087G>C (p.Leu1029Phe)
c.*2801G>C (n.*2801G>C)
c.2904G>C (p.Leu968Phe)
c.*1387G>C (n.*1387G>C)
c.*2911G>C (n.*2911G>C)
c.2661G>C (p.Leu887Phe)
c.678G>C (p.Leu226Phe)
c.737G>C
c.1869G>C (p.Leu623Phe)
c.2997G>C (p.Leu999Phe)
c.3177G>C (p.Leu1059Phe)
c.2844G>C (p.Leu948Phe)
7g.117610617G>TCA368990754CFTRc.3087G>T (p.Leu1029Phe)
c.*2801G>T (n.*2801G>T)
c.2904G>T (p.Leu968Phe)
c.*1387G>T (n.*1387G>T)
c.*2911G>T (n.*2911G>T)
c.2661G>T (p.Leu887Phe)
c.678G>T (p.Leu226Phe)
c.737G>T
c.1869G>T (p.Leu623Phe)
c.2997G>T (p.Leu999Phe)
c.3177G>T (p.Leu1059Phe)
c.2844G>T (p.Leu948Phe)
7g.117610620_117610621delCA645541521CFTRc.3090_3091del (p.Arg1030SerfsTer16)
c.*2804_*2805del (n.*2804_*2805del)
c.2907_2908del (p.Arg969SerfsTer16)
c.*1390_*1391del (n.*1390_*1391del)
c.*2914_*2915del (n.*2914_*2915del)
c.2664_2665del (p.Arg888SerfsTer16)
c.681_682del (p.Arg227SerfsTer16)
c.740_741del
c.1872_1873del (p.Arg624SerfsTer16)
c.3000_3001del (p.Arg1000SerfsTer16)
c.3180_3181del (p.Arg1060SerfsTer16)
c.2847_2848del (p.Arg949SerfsTer16)
 COSMIC
7g.117610618A>CCA457229428CFTRc.3088A>C (p.Arg1030=)
c.*2802A>C (n.*2802A>C)
c.2905A>C (p.Arg969=)
c.*1388A>C (n.*1388A>C)
c.*2912A>C (n.*2912A>C)
c.2662A>C (p.Arg888=)
c.679A>C (p.Arg227=)
c.738A>C
c.1870A>C (p.Arg624=)
c.2998A>C (p.Arg1000=)
c.3178A>C (p.Arg1060=)
c.2845A>C (p.Arg949=)
7g.117610618A>GCA368990755CFTRc.3088A>G (p.Arg1030Gly)
c.*2802A>G (n.*2802A>G)
c.2905A>G (p.Arg969Gly)
c.*1388A>G (n.*1388A>G)
c.*2912A>G (n.*2912A>G)
c.2662A>G (p.Arg888Gly)
c.679A>G (p.Arg227Gly)
c.738A>G
c.1870A>G (p.Arg624Gly)
c.2998A>G (p.Arg1000Gly)
c.3178A>G (p.Arg1060Gly)
c.2845A>G (p.Arg949Gly)
7g.117610618A>TCA368990756CFTRc.3088A>T (p.Arg1030Ter)
c.*2802A>T (n.*2802A>T)
c.2905A>T (p.Arg969Ter)
c.*1388A>T (n.*1388A>T)
c.*2912A>T (n.*2912A>T)
c.2662A>T (p.Arg888Ter)
c.679A>T (p.Arg227Ter)
c.738A>T
c.1870A>T (p.Arg624Ter)
c.2998A>T (p.Arg1000Ter)
c.3178A>T (p.Arg1060Ter)
c.2845A>T (p.Arg949Ter)
7g.117610619G>ACA368990757CFTRc.3089G>A (p.Arg1030Lys)
c.*2803G>A (n.*2803G>A)
c.2906G>A (p.Arg969Lys)
c.*1389G>A (n.*1389G>A)
c.*2913G>A (n.*2913G>A)
c.2663G>A (p.Arg888Lys)
c.680G>A (p.Arg227Lys)
c.739G>A
c.1871G>A (p.Arg624Lys)
c.2999G>A (p.Arg1000Lys)
c.3179G>A (p.Arg1060Lys)
c.2846G>A (p.Arg949Lys)
7g.117610619G>CCA368990759CFTRc.3089G>C (p.Arg1030Thr)
c.*2803G>C (n.*2803G>C)
c.2906G>C (p.Arg969Thr)
c.*1389G>C (n.*1389G>C)
c.*2913G>C (n.*2913G>C)
c.2663G>C (p.Arg888Thr)
c.680G>C (p.Arg227Thr)
c.739G>C
c.1871G>C (p.Arg624Thr)
c.2999G>C (p.Arg1000Thr)
c.3179G>C (p.Arg1060Thr)
c.2846G>C (p.Arg949Thr)
7g.117610619G>TCA368990758CFTRc.3089G>T (p.Arg1030Ile)
c.*2803G>T (n.*2803G>T)
c.2906G>T (p.Arg969Ile)
c.*1389G>T (n.*1389G>T)
c.*2913G>T (n.*2913G>T)
c.2663G>T (p.Arg888Ile)
c.680G>T (p.Arg227Ile)
c.739G>T
c.1871G>T (p.Arg624Ile)
c.2999G>T (p.Arg1000Ile)
c.3179G>T (p.Arg1060Ile)
c.2846G>T (p.Arg949Ile)
7g.117610620A>CCA368990760CFTRc.3090A>C (p.Arg1030Ser)
c.*2804A>C (n.*2804A>C)
c.2907A>C (p.Arg969Ser)
c.*1390A>C (n.*1390A>C)
c.*2914A>C (n.*2914A>C)
c.2664A>C (p.Arg888Ser)
c.681A>C (p.Arg227Ser)
c.740A>C
c.1872A>C (p.Arg624Ser)
c.3000A>C (p.Arg1000Ser)
c.3180A>C (p.Arg1060Ser)
c.2847A>C (p.Arg949Ser)
7g.117610620A>GCA457229429CFTRc.3090A>G (p.Arg1030=)
c.*2804A>G (n.*2804A>G)
c.2907A>G (p.Arg969=)
c.*1390A>G (n.*1390A>G)
c.*2914A>G (n.*2914A>G)
c.2664A>G (p.Arg888=)
c.681A>G (p.Arg227=)
c.740A>G
c.1872A>G (p.Arg624=)
c.3000A>G (p.Arg1000=)
c.3180A>G (p.Arg1060=)
c.2847A>G (p.Arg949=)
 ClinVar gnomAD v4
7g.117610620A>TCA368990761CFTRc.3090A>T (p.Arg1030Ser)
c.*2804A>T (n.*2804A>T)
c.2907A>T (p.Arg969Ser)
c.*1390A>T (n.*1390A>T)
c.*2914A>T (n.*2914A>T)
c.2664A>T (p.Arg888Ser)
c.681A>T (p.Arg227Ser)
c.740A>T
c.1872A>T (p.Arg624Ser)
c.3000A>T (p.Arg1000Ser)
c.3180A>T (p.Arg1060Ser)
c.2847A>T (p.Arg949Ser)
7g.117610621G>ACA368990762CFTRc.3091G>A (p.Ala1031Thr)
c.*2805G>A (n.*2805G>A)
c.2908G>A (p.Ala970Thr)
c.*1391G>A (n.*1391G>A)
c.*2915G>A (n.*2915G>A)
c.2665G>A (p.Ala889Thr)
c.682G>A (p.Ala228Thr)
c.741G>A
c.1873G>A (p.Ala625Thr)
c.3001G>A (p.Ala1001Thr)
c.3181G>A (p.Ala1061Thr)
c.2848G>A (p.Ala950Thr)
7g.117610621G>CCA368990763CFTRc.3091G>C (p.Ala1031Pro)
c.*2805G>C (n.*2805G>C)
c.2908G>C (p.Ala970Pro)
c.*1391G>C (n.*1391G>C)
c.*2915G>C (n.*2915G>C)
c.2665G>C (p.Ala889Pro)
c.682G>C (p.Ala228Pro)
c.741G>C
c.1873G>C (p.Ala625Pro)
c.3001G>C (p.Ala1001Pro)
c.3181G>C (p.Ala1061Pro)
c.2848G>C (p.Ala950Pro)
7g.117610621G>TCA368990764CFTRc.3091G>T (p.Ala1031Ser)
c.*2805G>T (n.*2805G>T)
c.2908G>T (p.Ala970Ser)
c.*1391G>T (n.*1391G>T)
c.*2915G>T (n.*2915G>T)
c.2665G>T (p.Ala889Ser)
c.682G>T (p.Ala228Ser)
c.741G>T
c.1873G>T (p.Ala625Ser)
c.3001G>T (p.Ala1001Ser)
c.3181G>T (p.Ala1061Ser)
c.2848G>T (p.Ala950Ser)
7g.117610622C>ACA368990765CFTRc.3092C>A (p.Ala1031Glu)
c.*2806C>A (n.*2806C>A)
c.2909C>A (p.Ala970Glu)
c.*1392C>A (n.*1392C>A)
c.*2916C>A (n.*2916C>A)
c.2666C>A (p.Ala889Glu)
c.683C>A (p.Ala228Glu)
c.742C>A
c.1874C>A (p.Ala625Glu)
c.3002C>A (p.Ala1001Glu)
c.3182C>A (p.Ala1061Glu)
c.2849C>A (p.Ala950Glu)
7g.117610622C=CA1737385048CFTRc.3092C= (p.Ala1031=)
c.*2806C= (n.*2806C=)
c.2909C= (p.Ala970=)
c.*1392C= (n.*1392C=)
c.*2916C= (n.*2916C=)
c.2666C= (p.Ala889=)
c.683C= (p.Ala228=)
c.742C=
c.1874C= (p.Ala625=)
c.3002C= (p.Ala1001=)
c.3182C= (p.Ala1061=)
c.2849C= (p.Ala950=)
7g.117610622C>GCA368990766CFTRc.3092C>G (p.Ala1031Gly)
c.*2806C>G (n.*2806C>G)
c.2909C>G (p.Ala970Gly)
c.*1392C>G (n.*1392C>G)
c.*2916C>G (n.*2916C>G)
c.2666C>G (p.Ala889Gly)
c.683C>G (p.Ala228Gly)
c.742C>G
c.1874C>G (p.Ala625Gly)
c.3002C>G (p.Ala1001Gly)
c.3182C>G (p.Ala1061Gly)
c.2849C>G (p.Ala950Gly)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117610622C>TCA4451375CFTRc.3092C>T (p.Ala1031Val)
c.*2806C>T (n.*2806C>T)
c.2909C>T (p.Ala970Val)
c.*1392C>T (n.*1392C>T)
c.*2916C>T (n.*2916C>T)
c.2666C>T (p.Ala889Val)
c.683C>T (p.Ala228Val)
c.742C>T
c.1874C>T (p.Ala625Val)
c.3002C>T (p.Ala1001Val)
c.3182C>T (p.Ala1061Val)
c.2849C>T (p.Ala950Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.117610623A=CA1737385051CFTRc.3093A= (p.Ala1031=)
c.*2807A= (n.*2807A=)
c.2910A= (p.Ala970=)
c.*1393A= (n.*1393A=)
c.*2917A= (n.*2917A=)
c.2667A= (p.Ala889=)
c.684A= (p.Ala228=)
c.743A=
c.1875A= (p.Ala625=)
c.3003A= (p.Ala1001=)
c.3183A= (p.Ala1061=)
c.2850A= (p.Ala950=)
7g.117610623A>CCA457229430CFTRc.3093A>C (p.Ala1031=)
c.*2807A>C (n.*2807A>C)
c.2910A>C (p.Ala970=)
c.*1393A>C (n.*1393A>C)
c.*2917A>C (n.*2917A>C)
c.2667A>C (p.Ala889=)
c.684A>C (p.Ala228=)
c.743A>C
c.1875A>C (p.Ala625=)
c.3003A>C (p.Ala1001=)
c.3183A>C (p.Ala1061=)
c.2850A>C (p.Ala950=)
 ClinVar gnomAD v4
7g.117610623A>GCA4451376CFTRc.3093A>G (p.Ala1031=)
c.*2807A>G (n.*2807A>G)
c.2910A>G (p.Ala970=)
c.*1393A>G (n.*1393A>G)
c.*2917A>G (n.*2917A>G)
c.2667A>G (p.Ala889=)
c.684A>G (p.Ala228=)
c.743A>G
c.1875A>G (p.Ala625=)
c.3003A>G (p.Ala1001=)
c.3183A>G (p.Ala1061=)
c.2850A>G (p.Ala950=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117610623A>TCA457229431CFTRc.3093A>T (p.Ala1031=)
c.*2807A>T (n.*2807A>T)
c.2910A>T (p.Ala970=)
c.*1393A>T (n.*1393A>T)
c.*2917A>T (n.*2917A>T)
c.2667A>T (p.Ala889=)
c.684A>T (p.Ala228=)
c.743A>T
c.1875A>T (p.Ala625=)
c.3003A>T (p.Ala1001=)
c.3183A>T (p.Ala1061=)
c.2850A>T (p.Ala950=)
 ClinVar
7g.117610624T>ACA327041CFTRc.3094T>A (p.Tyr1032Asn)
c.*2808T>A (n.*2808T>A)
c.2911T>A (p.Tyr971Asn)
c.*1394T>A (n.*1394T>A)
c.*2918T>A (n.*2918T>A)
c.2668T>A (p.Tyr890Asn)
c.685T>A (p.Tyr229Asn)
c.744T>A
c.1876T>A (p.Tyr626Asn)
c.3004T>A (p.Tyr1002Asn)
c.3184T>A (p.Tyr1062Asn)
c.2851T>A (p.Tyr951Asn)
 dbSNP
7g.117610624T>CCA368990767CFTRc.3094T>C (p.Tyr1032His)
c.*2808T>C (n.*2808T>C)
c.2911T>C (p.Tyr971His)
c.*1394T>C (n.*1394T>C)
c.*2918T>C (n.*2918T>C)
c.2668T>C (p.Tyr890His)
c.685T>C (p.Tyr229His)
c.744T>C
c.1876T>C (p.Tyr626His)
c.3004T>C (p.Tyr1002His)
c.3184T>C (p.Tyr1062His)
c.2851T>C (p.Tyr951His)
7g.117610624T>GCA368990768CFTRc.3094T>G (p.Tyr1032Asp)
c.*2808T>G (n.*2808T>G)
c.2911T>G (p.Tyr971Asp)
c.*1394T>G (n.*1394T>G)
c.*2918T>G (n.*2918T>G)
c.2668T>G (p.Tyr890Asp)
c.685T>G (p.Tyr229Asp)
c.744T>G
c.1876T>G (p.Tyr626Asp)
c.3004T>G (p.Tyr1002Asp)
c.3184T>G (p.Tyr1062Asp)
c.2851T>G (p.Tyr951Asp)
7g.117610624T=CA1737385057CFTRc.3094T= (p.Tyr1032=)
c.*2808T= (n.*2808T=)
c.2911T= (p.Tyr971=)
c.*1394T= (n.*1394T=)
c.*2918T= (n.*2918T=)
c.2668T= (p.Tyr890=)
c.685T= (p.Tyr229=)
c.744T=
c.1876T= (p.Tyr626=)
c.3004T= (p.Tyr1002=)
c.3184T= (p.Tyr1062=)
c.2851T= (p.Tyr951=)
7g.117610625A=CA1737385062CFTRc.3095A= (p.Tyr1032=)
c.*2809A= (n.*2809A=)
c.2912A= (p.Tyr971=)
c.*1395A= (n.*1395A=)
c.*2919A= (n.*2919A=)
c.2669A= (p.Tyr890=)
c.686A= (p.Tyr229=)
c.745A=
c.1877A= (p.Tyr626=)
c.3005A= (p.Tyr1002=)
c.3185A= (p.Tyr1062=)
c.2852A= (p.Tyr951=)
7g.117610625A>CCA368990770CFTRc.3095A>C (p.Tyr1032Ser)
c.*2809A>C (n.*2809A>C)
c.2912A>C (p.Tyr971Ser)
c.*1395A>C (n.*1395A>C)
c.*2919A>C (n.*2919A>C)
c.2669A>C (p.Tyr890Ser)
c.686A>C (p.Tyr229Ser)
c.745A>C
c.1877A>C (p.Tyr626Ser)
c.3005A>C (p.Tyr1002Ser)
c.3185A>C (p.Tyr1062Ser)
c.2852A>C (p.Tyr951Ser)
7g.117610625A>GCA325705CFTRc.3095A>G (p.Tyr1032Cys)
c.*2809A>G (n.*2809A>G)
c.2912A>G (p.Tyr971Cys)
c.*1395A>G (n.*1395A>G)
c.*2919A>G (n.*2919A>G)
c.2669A>G (p.Tyr890Cys)
c.686A>G (p.Tyr229Cys)
c.745A>G
c.1877A>G (p.Tyr626Cys)
c.3005A>G (p.Tyr1002Cys)
c.3185A>G (p.Tyr1062Cys)
c.2852A>G (p.Tyr951Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117610625A>TCA368990769CFTRc.3095A>T (p.Tyr1032Phe)
c.*2809A>T (n.*2809A>T)
c.2912A>T (p.Tyr971Phe)
c.*1395A>T (n.*1395A>T)
c.*2919A>T (n.*2919A>T)
c.2669A>T (p.Tyr890Phe)
c.686A>T (p.Tyr229Phe)
c.745A>T
c.1877A>T (p.Tyr626Phe)
c.3005A>T (p.Tyr1002Phe)
c.3185A>T (p.Tyr1062Phe)
c.2852A>T (p.Tyr951Phe)
7g.117610625_117610626delinsATCA1737385067CFTRc.3095_3096delinsAT (p.Tyr1032=)
c.*2809_*2810delinsAT (n.*2809_*2810delinsAT)
c.2912_2913delinsAT (p.Tyr971=)
c.*1395_*1396delinsAT (n.*1395_*1396delinsAT)
c.*2919_*2920delinsAT (n.*2919_*2920delinsAT)
c.2669_2670delinsAT (p.Tyr890=)
c.686_687delinsAT (p.Tyr229=)
c.745_746delinsAT
c.1877_1878delinsAT (p.Tyr626=)
c.3005_3006delinsAT (p.Tyr1002=)
c.3185_3186delinsAT (p.Tyr1062=)
c.2852_2853delinsAT (p.Tyr951=)
7g.117610626T>ACA368990772CFTRc.3096T>A (p.Tyr1032Ter)
c.*2810T>A (n.*2810T>A)
c.2913T>A (p.Tyr971Ter)
c.*1396T>A (n.*1396T>A)
c.*2920T>A (n.*2920T>A)
c.2670T>A (p.Tyr890Ter)
c.687T>A (p.Tyr229Ter)
c.746T>A
c.1878T>A (p.Tyr626Ter)
c.3006T>A (p.Tyr1002Ter)
c.3186T>A (p.Tyr1062Ter)
c.2853T>A (p.Tyr951Ter)
7g.117610626T>CCA457229440CFTRc.3096T>C (p.Tyr1032=)
c.*2810T>C (n.*2810T>C)
c.2913T>C (p.Tyr971=)
c.*1396T>C (n.*1396T>C)
c.*2920T>C (n.*2920T>C)
c.2670T>C (p.Tyr890=)
c.687T>C (p.Tyr229=)
c.746T>C
c.1878T>C (p.Tyr626=)
c.3006T>C (p.Tyr1002=)
c.3186T>C (p.Tyr1062=)
c.2853T>C (p.Tyr951=)
7g.117610626T>GCA368990771CFTRc.3096T>G (p.Tyr1032Ter)
c.*2810T>G (n.*2810T>G)
c.2913T>G (p.Tyr971Ter)
c.*1396T>G (n.*1396T>G)
c.*2920T>G (n.*2920T>G)
c.2670T>G (p.Tyr890Ter)
c.687T>G (p.Tyr229Ter)
c.746T>G
c.1878T>G (p.Tyr626Ter)
c.3006T>G (p.Tyr1002Ter)
c.3186T>G (p.Tyr1062Ter)
c.2853T>G (p.Tyr951Ter)
7g.117610628delCA577680836CFTRc.3098del (p.Phe1033SerfsTer27)
c.*2812del (n.*2812del)
c.2915del (p.Phe972SerfsTer27)
c.*1398del (n.*1398del)
c.*2922del (n.*2922del)
c.2672del (p.Phe891SerfsTer27)
c.689del (p.Phe230SerfsTer27)
c.748del
c.1880del (p.Phe627SerfsTer27)
c.3008del (p.Phe1003SerfsTer27)
c.3188del (p.Phe1063SerfsTer27)
c.2855del (p.Phe952SerfsTer27)
 dbSNP gnomAD v2 gnomAD v4
7g.117610627T>ACA368990774CFTRc.3097T>A (p.Phe1033Ile)
c.*2811T>A (n.*2811T>A)
c.2914T>A (p.Phe972Ile)
c.*1397T>A (n.*1397T>A)
c.*2921T>A (n.*2921T>A)
c.2671T>A (p.Phe891Ile)
c.688T>A (p.Phe230Ile)
c.747T>A
c.1879T>A (p.Phe627Ile)
c.3007T>A (p.Phe1003Ile)
c.3187T>A (p.Phe1063Ile)
c.2854T>A (p.Phe952Ile)
7g.117610627T>CCA368990773CFTRc.3097T>C (p.Phe1033Leu)
c.*2811T>C (n.*2811T>C)
c.2914T>C (p.Phe972Leu)
c.*1397T>C (n.*1397T>C)
c.*2921T>C (n.*2921T>C)
c.2671T>C (p.Phe891Leu)
c.688T>C (p.Phe230Leu)
c.747T>C
c.1879T>C (p.Phe627Leu)
c.3007T>C (p.Phe1003Leu)
c.3187T>C (p.Phe1063Leu)
c.2854T>C (p.Phe952Leu)
7g.117610627T>GCA368990775CFTRc.3097T>G (p.Phe1033Val)
c.*2811T>G (n.*2811T>G)
c.2914T>G (p.Phe972Val)
c.*1397T>G (n.*1397T>G)
c.*2921T>G (n.*2921T>G)
c.2671T>G (p.Phe891Val)
c.688T>G (p.Phe230Val)
c.747T>G
c.1879T>G (p.Phe627Val)
c.3007T>G (p.Phe1003Val)
c.3187T>G (p.Phe1063Val)
c.2854T>G (p.Phe952Val)
 COSMIC
7g.117610628T>ACA368990776CFTRc.3098T>A (p.Phe1033Tyr)
c.*2812T>A (n.*2812T>A)
c.2915T>A (p.Phe972Tyr)
c.*1398T>A (n.*1398T>A)
c.*2922T>A (n.*2922T>A)
c.2672T>A (p.Phe891Tyr)
c.689T>A (p.Phe230Tyr)
c.748T>A
c.1880T>A (p.Phe627Tyr)
c.3008T>A (p.Phe1003Tyr)
c.3188T>A (p.Phe1063Tyr)
c.2855T>A (p.Phe952Tyr)
7g.117610628T>CCA368990778CFTRc.3098T>C (p.Phe1033Ser)
c.*2812T>C (n.*2812T>C)
c.2915T>C (p.Phe972Ser)
c.*1398T>C (n.*1398T>C)
c.*2922T>C (n.*2922T>C)
c.2672T>C (p.Phe891Ser)
c.689T>C (p.Phe230Ser)
c.748T>C
c.1880T>C (p.Phe627Ser)
c.3008T>C (p.Phe1003Ser)
c.3188T>C (p.Phe1063Ser)
c.2855T>C (p.Phe952Ser)
 dbSNP
7g.117610628T>GCA368990777CFTRc.3098T>G (p.Phe1033Cys)
c.*2812T>G (n.*2812T>G)
c.2915T>G (p.Phe972Cys)
c.*1398T>G (n.*1398T>G)
c.*2922T>G (n.*2922T>G)
c.2672T>G (p.Phe891Cys)
c.689T>G (p.Phe230Cys)
c.748T>G
c.1880T>G (p.Phe627Cys)
c.3008T>G (p.Phe1003Cys)
c.3188T>G (p.Phe1063Cys)
c.2855T>G (p.Phe952Cys)
7g.117610628T=CA1737385080CFTRc.3098T= (p.Phe1033=)
c.*2812T= (n.*2812T=)
c.2915T= (p.Phe972=)
c.*1398T= (n.*1398T=)
c.*2922T= (n.*2922T=)
c.2672T= (p.Phe891=)
c.689T= (p.Phe230=)
c.748T=
c.1880T= (p.Phe627=)
c.3008T= (p.Phe1003=)
c.3188T= (p.Phe1063=)
c.2855T= (p.Phe952=)
7g.117610629C>ACA368990779CFTRc.3099C>A (p.Phe1033Leu)
c.*2813C>A (n.*2813C>A)
c.2916C>A (p.Phe972Leu)
c.*1399C>A (n.*1399C>A)
c.*2923C>A (n.*2923C>A)
c.2673C>A (p.Phe891Leu)
c.690C>A (p.Phe230Leu)
c.749C>A
c.1881C>A (p.Phe627Leu)
c.3009C>A (p.Phe1003Leu)
c.3189C>A (p.Phe1063Leu)
c.2856C>A (p.Phe952Leu)
 ClinVar
7g.117610629C>GCA368990780CFTRc.3099C>G (p.Phe1033Leu)
c.*2813C>G (n.*2813C>G)
c.2916C>G (p.Phe972Leu)
c.*1399C>G (n.*1399C>G)
c.*2923C>G (n.*2923C>G)
c.2673C>G (p.Phe891Leu)
c.690C>G (p.Phe230Leu)
c.749C>G
c.1881C>G (p.Phe627Leu)
c.3009C>G (p.Phe1003Leu)
c.3189C>G (p.Phe1063Leu)
c.2856C>G (p.Phe952Leu)
7g.117610629C>TCA457229451CFTRc.3099C>T (p.Phe1033=)
c.*2813C>T (n.*2813C>T)
c.2916C>T (p.Phe972=)
c.*1399C>T (n.*1399C>T)
c.*2923C>T (n.*2923C>T)
c.2673C>T (p.Phe891=)
c.690C>T (p.Phe230=)
c.749C>T
c.1881C>T (p.Phe627=)
c.3009C>T (p.Phe1003=)
c.3189C>T (p.Phe1063=)
c.2856C>T (p.Phe952=)
 COSMIC
7g.117610630C>ACA368990781CFTRc.3100C>A (p.Leu1034Ile)
c.*2814C>A (n.*2814C>A)
c.2917C>A (p.Leu973Ile)
c.*1400C>A (n.*1400C>A)
c.*2924C>A (n.*2924C>A)
c.2674C>A (p.Leu892Ile)
c.691C>A (p.Leu231Ile)
c.750C>A
c.1882C>A (p.Leu628Ile)
c.3010C>A (p.Leu1004Ile)
c.3190C>A (p.Leu1064Ile)
c.2857C>A (p.Leu953Ile)
7g.117610630C=CA1737385087CFTRc.3100C= (p.Leu1034=)
c.*2814C= (n.*2814C=)
c.2917C= (p.Leu973=)
c.*1400C= (n.*1400C=)
c.*2924C= (n.*2924C=)
c.2674C= (p.Leu892=)
c.691C= (p.Leu231=)
c.750C=
c.1882C= (p.Leu628=)
c.3010C= (p.Leu1004=)
c.3190C= (p.Leu1064=)
c.2857C= (p.Leu953=)
7g.117610630C>GCA368990782CFTRc.3100C>G (p.Leu1034Val)
c.*2814C>G (n.*2814C>G)
c.2917C>G (p.Leu973Val)
c.*1400C>G (n.*1400C>G)
c.*2924C>G (n.*2924C>G)
c.2674C>G (p.Leu892Val)
c.691C>G (p.Leu231Val)
c.750C>G
c.1882C>G (p.Leu628Val)
c.3010C>G (p.Leu1004Val)
c.3190C>G (p.Leu1064Val)
c.2857C>G (p.Leu953Val)
7g.117610630C>TCA368990783CFTRc.3100C>T (p.Leu1034Phe)
c.*2814C>T (n.*2814C>T)
c.2917C>T (p.Leu973Phe)
c.*1400C>T (n.*1400C>T)
c.*2924C>T (n.*2924C>T)
c.2674C>T (p.Leu892Phe)
c.691C>T (p.Leu231Phe)
c.750C>T
c.1882C>T (p.Leu628Phe)
c.3010C>T (p.Leu1004Phe)
c.3190C>T (p.Leu1064Phe)
c.2857C>T (p.Leu953Phe)
 ClinVar dbSNP gnomAD v4
7g.117610631T>ACA368990784CFTRc.3101T>A (p.Leu1034His)
c.*2815T>A (n.*2815T>A)
c.2918T>A (p.Leu973His)
c.*1401T>A (n.*1401T>A)
c.*2925T>A (n.*2925T>A)
c.2675T>A (p.Leu892His)
c.692T>A (p.Leu231His)
c.751T>A
c.1883T>A (p.Leu628His)
c.3011T>A (p.Leu1004His)
c.3191T>A (p.Leu1064His)
c.2858T>A (p.Leu953His)
7g.117610631T>CCA368990785CFTRc.3101T>C (p.Leu1034Pro)
c.*2815T>C (n.*2815T>C)
c.2918T>C (p.Leu973Pro)
c.*1401T>C (n.*1401T>C)
c.*2925T>C (n.*2925T>C)
c.2675T>C (p.Leu892Pro)
c.692T>C (p.Leu231Pro)
c.751T>C
c.1883T>C (p.Leu628Pro)
c.3011T>C (p.Leu1004Pro)
c.3191T>C (p.Leu1064Pro)
c.2858T>C (p.Leu953Pro)
 ClinVar
7g.117610631T>GCA368990786CFTRc.3101T>G (p.Leu1034Arg)
c.*2815T>G (n.*2815T>G)
c.2918T>G (p.Leu973Arg)
c.*1401T>G (n.*1401T>G)
c.*2925T>G (n.*2925T>G)
c.2675T>G (p.Leu892Arg)
c.692T>G (p.Leu231Arg)
c.751T>G
c.1883T>G (p.Leu628Arg)
c.3011T>G (p.Leu1004Arg)
c.3191T>G (p.Leu1064Arg)
c.2858T>G (p.Leu953Arg)
 ClinVar dbSNP COSMIC
7g.117610631T=CA1737385099CFTRc.3101T= (p.Leu1034=)
c.*2815T= (n.*2815T=)
c.2918T= (p.Leu973=)
c.*1401T= (n.*1401T=)
c.*2925T= (n.*2925T=)
c.2675T= (p.Leu892=)
c.692T= (p.Leu231=)
c.751T=
c.1883T= (p.Leu628=)
c.3011T= (p.Leu1004=)
c.3191T= (p.Leu1064=)
c.2858T= (p.Leu953=)
7g.117610632C>ACA457229458CFTRc.3102C>A (p.Leu1034=)
c.*2816C>A (n.*2816C>A)
c.2919C>A (p.Leu973=)
c.*1402C>A (n.*1402C>A)
c.*2926C>A (n.*2926C>A)
c.2676C>A (p.Leu892=)
c.693C>A (p.Leu231=)
c.752C>A
c.1884C>A (p.Leu628=)
c.3012C>A (p.Leu1004=)
c.3192C>A (p.Leu1064=)
c.2859C>A (p.Leu953=)
7g.117610632C>GCA457229461CFTRc.3102C>G (p.Leu1034=)
c.*2816C>G (n.*2816C>G)
c.2919C>G (p.Leu973=)
c.*1402C>G (n.*1402C>G)
c.*2926C>G (n.*2926C>G)
c.2676C>G (p.Leu892=)
c.693C>G (p.Leu231=)
c.752C>G
c.1884C>G (p.Leu628=)
c.3012C>G (p.Leu1004=)
c.3192C>G (p.Leu1064=)
c.2859C>G (p.Leu953=)
7g.117610632C>TCA457229462CFTRc.3102C>T (p.Leu1034=)
c.*2816C>T (n.*2816C>T)
c.2919C>T (p.Leu973=)
c.*1402C>T (n.*1402C>T)
c.*2926C>T (n.*2926C>T)
c.2676C>T (p.Leu892=)
c.693C>T (p.Leu231=)
c.752C>T
c.1884C>T (p.Leu628=)
c.3012C>T (p.Leu1004=)
c.3192C>T (p.Leu1064=)
c.2859C>T (p.Leu953=)
 gnomAD v4
7g.117610633C>ACA368990787CFTRc.3103C>A (p.Gln1035Lys)
c.*2817C>A (n.*2817C>A)
c.2920C>A (p.Gln974Lys)
c.*1403C>A (n.*1403C>A)
c.*2927C>A (n.*2927C>A)
c.2677C>A (p.Gln893Lys)
c.694C>A (p.Gln232Lys)
c.753C>A
c.1885C>A (p.Gln629Lys)
c.3013C>A (p.Gln1005Lys)
c.3193C>A (p.Gln1065Lys)
c.2860C>A (p.Gln954Lys)
 gnomAD v4
7g.117610633C=CA1737385108CFTRc.3103C= (p.Gln1035=)
c.*2817C= (n.*2817C=)
c.2920C= (p.Gln974=)
c.*1403C= (n.*1403C=)
c.*2927C= (n.*2927C=)
c.2677C= (p.Gln893=)
c.694C= (p.Gln232=)
c.753C=
c.1885C= (p.Gln629=)
c.3013C= (p.Gln1005=)
c.3193C= (p.Gln1065=)
c.2860C= (p.Gln954=)
7g.117610633C>GCA368990788CFTRc.3103C>G (p.Gln1035Glu)
c.*2817C>G (n.*2817C>G)
c.2920C>G (p.Gln974Glu)
c.*1403C>G (n.*1403C>G)
c.*2927C>G (n.*2927C>G)
c.2677C>G (p.Gln893Glu)
c.694C>G (p.Gln232Glu)
c.753C>G
c.1885C>G (p.Gln629Glu)
c.3013C>G (p.Gln1005Glu)
c.3193C>G (p.Gln1065Glu)
c.2860C>G (p.Gln954Glu)
7g.117610633C>TCA327043CFTRc.3103C>T (p.Gln1035Ter)
c.*2817C>T (n.*2817C>T)
c.2920C>T (p.Gln974Ter)
c.*1403C>T (n.*1403C>T)
c.*2927C>T (n.*2927C>T)
c.2677C>T (p.Gln893Ter)
c.694C>T (p.Gln232Ter)
c.753C>T
c.1885C>T (p.Gln629Ter)
c.3013C>T (p.Gln1005Ter)
c.3193C>T (p.Gln1065Ter)
c.2860C>T (p.Gln954Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117610633_117610634delinsCACA1737385105CFTRc.3103_3104delinsCA (p.Gln1035=)
c.*2817_*2818delinsCA (n.*2817_*2818delinsCA)
c.2920_2921delinsCA (p.Gln974=)
c.*1403_*1404delinsCA (n.*1403_*1404delinsCA)
c.*2927_*2928delinsCA (n.*2927_*2928delinsCA)
c.2677_2678delinsCA (p.Gln893=)
c.694_695delinsCA (p.Gln232=)
c.753_754delinsCA
c.1885_1886delinsCA (p.Gln629=)
c.3013_3014delinsCA (p.Gln1005=)
c.3193_3194delinsCA (p.Gln1065=)
c.2860_2861delinsCA (p.Gln954=)
7g.117610634A>CCA368990791CFTRc.3104A>C (p.Gln1035Pro)
c.*2818A>C (n.*2818A>C)
c.2921A>C (p.Gln974Pro)
c.*1404A>C (n.*1404A>C)
c.*2928A>C (n.*2928A>C)
c.2678A>C (p.Gln893Pro)
c.695A>C (p.Gln232Pro)
c.754A>C
c.1886A>C (p.Gln629Pro)
c.3014A>C (p.Gln1005Pro)
c.3194A>C (p.Gln1065Pro)
c.2861A>C (p.Gln954Pro)
7g.117610634A>GCA368990789CFTRc.3104A>G (p.Gln1035Arg)
c.*2818A>G (n.*2818A>G)
c.2921A>G (p.Gln974Arg)
c.*1404A>G (n.*1404A>G)
c.*2928A>G (n.*2928A>G)
c.2678A>G (p.Gln893Arg)
c.695A>G (p.Gln232Arg)
c.754A>G
c.1886A>G (p.Gln629Arg)
c.3014A>G (p.Gln1005Arg)
c.3194A>G (p.Gln1065Arg)
c.2861A>G (p.Gln954Arg)
7g.117610634A>TCA368990790CFTRc.3104A>T (p.Gln1035Leu)
c.*2818A>T (n.*2818A>T)
c.2921A>T (p.Gln974Leu)
c.*1404A>T (n.*1404A>T)
c.*2928A>T (n.*2928A>T)
c.2678A>T (p.Gln893Leu)
c.695A>T (p.Gln232Leu)
c.754A>T
c.1886A>T (p.Gln629Leu)
c.3014A>T (p.Gln1005Leu)
c.3194A>T (p.Gln1065Leu)
c.2861A>T (p.Gln954Leu)
7g.117610636delCA327045CFTRc.3106del (p.Thr1036ProfsTer24)
c.*2820del (n.*2820del)
c.2923del (p.Thr975ProfsTer24)
c.*1406del (n.*1406del)
c.*2930del (n.*2930del)
c.2680del (p.Thr894ProfsTer24)
c.697del (p.Thr233ProfsTer24)
c.756del
c.1888del (p.Thr630ProfsTer24)
c.3016del (p.Thr1006ProfsTer24)
c.3196del (p.Thr1066ProfsTer24)
c.2863del (p.Thr955ProfsTer24)
 dbSNP
7g.117610635A>CCA368990792CFTRc.3105A>C (p.Gln1035His)
c.*2819A>C (n.*2819A>C)
c.2922A>C (p.Gln974His)
c.*1405A>C (n.*1405A>C)
c.*2929A>C (n.*2929A>C)
c.2679A>C (p.Gln893His)
c.696A>C (p.Gln232His)
c.755A>C
c.1887A>C (p.Gln629His)
c.3015A>C (p.Gln1005His)
c.3195A>C (p.Gln1065His)
c.2862A>C (p.Gln954His)
7g.117610635A>GCA457229472CFTRc.3105A>G (p.Gln1035=)
c.*2819A>G (n.*2819A>G)
c.2922A>G (p.Gln974=)
c.*1405A>G (n.*1405A>G)
c.*2929A>G (n.*2929A>G)
c.2679A>G (p.Gln893=)
c.696A>G (p.Gln232=)
c.755A>G
c.1887A>G (p.Gln629=)
c.3015A>G (p.Gln1005=)
c.3195A>G (p.Gln1065=)
c.2862A>G (p.Gln954=)
7g.117610635A>TCA368990793CFTRc.3105A>T (p.Gln1035His)
c.*2819A>T (n.*2819A>T)
c.2922A>T (p.Gln974His)
c.*1405A>T (n.*1405A>T)
c.*2929A>T (n.*2929A>T)
c.2679A>T (p.Gln893His)
c.696A>T (p.Gln232His)
c.755A>T
c.1887A>T (p.Gln629His)
c.3015A>T (p.Gln1005His)
c.3195A>T (p.Gln1065His)
c.2862A>T (p.Gln954His)
7g.117610636A>CCA368990794CFTRc.3106A>C (p.Thr1036Pro)
c.*2820A>C (n.*2820A>C)
c.2923A>C (p.Thr975Pro)
c.*1406A>C (n.*1406A>C)
c.*2930A>C (n.*2930A>C)
c.2680A>C (p.Thr894Pro)
c.697A>C (p.Thr233Pro)
c.756A>C
c.1888A>C (p.Thr630Pro)
c.3016A>C (p.Thr1006Pro)
c.3196A>C (p.Thr1066Pro)
c.2863A>C (p.Thr955Pro)
7g.117610636A>GCA368990795CFTRc.3106A>G (p.Thr1036Ala)
c.*2820A>G (n.*2820A>G)
c.2923A>G (p.Thr975Ala)
c.*1406A>G (n.*1406A>G)
c.*2930A>G (n.*2930A>G)
c.2680A>G (p.Thr894Ala)
c.697A>G (p.Thr233Ala)
c.756A>G
c.1888A>G (p.Thr630Ala)
c.3016A>G (p.Thr1006Ala)
c.3196A>G (p.Thr1066Ala)
c.2863A>G (p.Thr955Ala)
 ClinVar gnomAD v4
7g.117610636A>TCA368990796CFTRc.3106A>T (p.Thr1036Ser)
c.*2820A>T (n.*2820A>T)
c.2923A>T (p.Thr975Ser)
c.*1406A>T (n.*1406A>T)
c.*2930A>T (n.*2930A>T)
c.2680A>T (p.Thr894Ser)
c.697A>T (p.Thr233Ser)
c.756A>T
c.1888A>T (p.Thr630Ser)
c.3016A>T (p.Thr1006Ser)
c.3196A>T (p.Thr1066Ser)
c.2863A>T (p.Thr955Ser)
7g.117610637C>ACA327046CFTRc.3107C>A (p.Thr1036Asn)
c.*2821C>A (n.*2821C>A)
c.2924C>A (p.Thr975Asn)
c.*1407C>A (n.*1407C>A)
c.*2931C>A (n.*2931C>A)
c.2681C>A (p.Thr894Asn)
c.698C>A (p.Thr233Asn)
c.757C>A
c.1889C>A (p.Thr630Asn)
c.3017C>A (p.Thr1006Asn)
c.3197C>A (p.Thr1066Asn)
c.2864C>A (p.Thr955Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117610637C=CA1737385121CFTRc.3107C= (p.Thr1036=)
c.*2821C= (n.*2821C=)
c.2924C= (p.Thr975=)
c.*1407C= (n.*1407C=)
c.*2931C= (n.*2931C=)
c.2681C= (p.Thr894=)
c.698C= (p.Thr233=)
c.757C=
c.1889C= (p.Thr630=)
c.3017C= (p.Thr1006=)
c.3197C= (p.Thr1066=)
c.2864C= (p.Thr955=)
7g.117610637C>GCA368990797CFTRc.3107C>G (p.Thr1036Ser)
c.*2821C>G (n.*2821C>G)
c.2924C>G (p.Thr975Ser)
c.*1407C>G (n.*1407C>G)
c.*2931C>G (n.*2931C>G)
c.2681C>G (p.Thr894Ser)
c.698C>G (p.Thr233Ser)
c.757C>G
c.1889C>G (p.Thr630Ser)
c.3017C>G (p.Thr1006Ser)
c.3197C>G (p.Thr1066Ser)
c.2864C>G (p.Thr955Ser)
7g.117610637C>TCA368990798CFTRc.3107C>T (p.Thr1036Ile)
c.*2821C>T (n.*2821C>T)
c.2924C>T (p.Thr975Ile)
c.*1407C>T (n.*1407C>T)
c.*2931C>T (n.*2931C>T)
c.2681C>T (p.Thr894Ile)
c.698C>T (p.Thr233Ile)
c.757C>T
c.1889C>T (p.Thr630Ile)
c.3017C>T (p.Thr1006Ile)
c.3197C>T (p.Thr1066Ile)
c.2864C>T (p.Thr955Ile)
 ClinVar dbSNP gnomAD v4
7g.117610638C>ACA457229485CFTRc.3108C>A (p.Thr1036=)
c.*2822C>A (n.*2822C>A)
c.2925C>A (p.Thr975=)
c.*1408C>A (n.*1408C>A)
c.*2932C>A (n.*2932C>A)
c.2682C>A (p.Thr894=)
c.699C>A (p.Thr233=)
c.758C>A
c.1890C>A (p.Thr630=)
c.3018C>A (p.Thr1006=)
c.3198C>A (p.Thr1066=)
c.2865C>A (p.Thr955=)
7g.117610638C=CA1737385132CFTRc.3108C= (p.Thr1036=)
c.*2822C= (n.*2822C=)
c.2925C= (p.Thr975=)
c.*1408C= (n.*1408C=)
c.*2932C= (n.*2932C=)
c.2682C= (p.Thr894=)
c.699C= (p.Thr233=)
c.758C=
c.1890C= (p.Thr630=)
c.3018C= (p.Thr1006=)
c.3198C= (p.Thr1066=)
c.2865C= (p.Thr955=)
7g.117610638C>GCA457229482CFTRc.3108C>G (p.Thr1036=)
c.*2822C>G (n.*2822C>G)
c.2925C>G (p.Thr975=)
c.*1408C>G (n.*1408C>G)
c.*2932C>G (n.*2932C>G)
c.2682C>G (p.Thr894=)
c.699C>G (p.Thr233=)
c.758C>G
c.1890C>G (p.Thr630=)
c.3018C>G (p.Thr1006=)
c.3198C>G (p.Thr1066=)
c.2865C>G (p.Thr955=)
 ClinVar dbSNP
7g.117610638C>TCA4451377CFTRc.3108C>T (p.Thr1036=)
c.*2822C>T (n.*2822C>T)
c.2925C>T (p.Thr975=)
c.*1408C>T (n.*1408C>T)
c.*2932C>T (n.*2932C>T)
c.2682C>T (p.Thr894=)
c.699C>T (p.Thr233=)
c.758C>T
c.1890C>T (p.Thr630=)
c.3018C>T (p.Thr1006=)
c.3198C>T (p.Thr1066=)
c.2865C>T (p.Thr955=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117610639T>ACA368990800CFTRc.3109T>A (p.Ser1037Thr)
c.*2823T>A (n.*2823T>A)
c.2926T>A (p.Ser976Thr)
c.*1409T>A (n.*1409T>A)
c.*2933T>A (n.*2933T>A)
c.2683T>A (p.Ser895Thr)
c.700T>A (p.Ser234Thr)
c.759T>A
c.1891T>A (p.Ser631Thr)
c.3019T>A (p.Ser1007Thr)
c.3199T>A (p.Ser1067Thr)
c.2866T>A (p.Ser956Thr)
7g.117610639T>CCA368990801CFTRc.3109T>C (p.Ser1037Pro)
c.*2823T>C (n.*2823T>C)
c.2926T>C (p.Ser976Pro)
c.*1409T>C (n.*1409T>C)
c.*2933T>C (n.*2933T>C)
c.2683T>C (p.Ser895Pro)
c.700T>C (p.Ser234Pro)
c.759T>C
c.1891T>C (p.Ser631Pro)
c.3019T>C (p.Ser1007Pro)
c.3199T>C (p.Ser1067Pro)
c.2866T>C (p.Ser956Pro)
7g.117610639T>GCA368990799CFTRc.3109T>G (p.Ser1037Ala)
c.*2823T>G (n.*2823T>G)
c.2926T>G (p.Ser976Ala)
c.*1409T>G (n.*1409T>G)
c.*2933T>G (n.*2933T>G)
c.2683T>G (p.Ser895Ala)
c.700T>G (p.Ser234Ala)
c.759T>G
c.1891T>G (p.Ser631Ala)
c.3019T>G (p.Ser1007Ala)
c.3199T>G (p.Ser1067Ala)
c.2866T>G (p.Ser956Ala)
7g.117610640C>ACA368990802CFTRc.3110C>A (p.Ser1037Ter)
c.*2824C>A (n.*2824C>A)
c.2927C>A (p.Ser976Ter)
c.*1410C>A (n.*1410C>A)
c.*2934C>A (n.*2934C>A)
c.2684C>A (p.Ser895Ter)
c.701C>A (p.Ser234Ter)
c.760C>A
c.1892C>A (p.Ser631Ter)
c.3020C>A (p.Ser1007Ter)
c.3200C>A (p.Ser1067Ter)
c.2867C>A (p.Ser956Ter)
 ClinVar dbSNP
7g.117610640C=CA1737385151CFTRc.3110C= (p.Ser1037=)
c.*2824C= (n.*2824C=)
c.2927C= (p.Ser976=)
c.*1410C= (n.*1410C=)
c.*2934C= (n.*2934C=)
c.2684C= (p.Ser895=)
c.701C= (p.Ser234=)
c.760C=
c.1892C= (p.Ser631=)
c.3020C= (p.Ser1007=)
c.3200C= (p.Ser1067=)
c.2867C= (p.Ser956=)
7g.117610640C>GCA368990803CFTRc.3110C>G (p.Ser1037Ter)
c.*2824C>G (n.*2824C>G)
c.2927C>G (p.Ser976Ter)
c.*1410C>G (n.*1410C>G)
c.*2934C>G (n.*2934C>G)
c.2684C>G (p.Ser895Ter)
c.701C>G (p.Ser234Ter)
c.760C>G
c.1892C>G (p.Ser631Ter)
c.3020C>G (p.Ser1007Ter)
c.3200C>G (p.Ser1067Ter)
c.2867C>G (p.Ser956Ter)
7g.117610640C>TCA368990804CFTRc.3110C>T (p.Ser1037Leu)
c.*2824C>T (n.*2824C>T)
c.2927C>T (p.Ser976Leu)
c.*1410C>T (n.*1410C>T)
c.*2934C>T (n.*2934C>T)
c.2684C>T (p.Ser895Leu)
c.701C>T (p.Ser234Leu)
c.760C>T
c.1892C>T (p.Ser631Leu)
c.3020C>T (p.Ser1007Leu)
c.3200C>T (p.Ser1067Leu)
c.2867C>T (p.Ser956Leu)
 gnomAD v4 COSMIC
7g.117610641A=CA1737385159CFTRc.3111A= (p.Ser1037=)
c.*2825A= (n.*2825A=)
c.2928A= (p.Ser976=)
c.*1411A= (n.*1411A=)
c.*2935A= (n.*2935A=)
c.2685A= (p.Ser895=)
c.702A= (p.Ser234=)
c.761A=
c.1893A= (p.Ser631=)
c.3021A= (p.Ser1007=)
c.3201A= (p.Ser1067=)
c.2868A= (p.Ser956=)
7g.117610641A>CCA457229494CFTRc.3111A>C (p.Ser1037=)
c.*2825A>C (n.*2825A>C)
c.2928A>C (p.Ser976=)
c.*1411A>C (n.*1411A>C)
c.*2935A>C (n.*2935A>C)
c.2685A>C (p.Ser895=)
c.702A>C (p.Ser234=)
c.761A>C
c.1893A>C (p.Ser631=)
c.3021A>C (p.Ser1007=)
c.3201A>C (p.Ser1067=)
c.2868A>C (p.Ser956=)
 gnomAD v4
7g.117610641A>GCA457229499CFTRc.3111A>G (p.Ser1037=)
c.*2825A>G (n.*2825A>G)
c.2928A>G (p.Ser976=)
c.*1411A>G (n.*1411A>G)
c.*2935A>G (n.*2935A>G)
c.2685A>G (p.Ser895=)
c.702A>G (p.Ser234=)
c.761A>G
c.1893A>G (p.Ser631=)
c.3021A>G (p.Ser1007=)
c.3201A>G (p.Ser1067=)
c.2868A>G (p.Ser956=)
 gnomAD v4
7g.117610641A>TCA457229496CFTRc.3111A>T (p.Ser1037=)
c.*2825A>T (n.*2825A>T)
c.2928A>T (p.Ser976=)
c.*1411A>T (n.*1411A>T)
c.*2935A>T (n.*2935A>T)
c.2685A>T (p.Ser895=)
c.702A>T (p.Ser234=)
c.761A>T
c.1893A>T (p.Ser631=)
c.3021A>T (p.Ser1007=)
c.3201A>T (p.Ser1067=)
c.2868A>T (p.Ser956=)
7g.117610642C>ACA368990805CFTRc.3112C>A (p.Gln1038Lys)
c.*2826C>A (n.*2826C>A)
c.2929C>A (p.Gln977Lys)
c.*1412C>A (n.*1412C>A)
c.*2936C>A (n.*2936C>A)
c.2686C>A (p.Gln896Lys)
c.703C>A (p.Gln235Lys)
c.762C>A
c.1894C>A (p.Gln632Lys)
c.3022C>A (p.Gln1008Lys)
c.3202C>A (p.Gln1068Lys)
c.2869C>A (p.Gln957Lys)
7g.117610642C>GCA368990806CFTRc.3112C>G (p.Gln1038Glu)
c.*2826C>G (n.*2826C>G)
c.2929C>G (p.Gln977Glu)
c.*1412C>G (n.*1412C>G)
c.*2936C>G (n.*2936C>G)
c.2686C>G (p.Gln896Glu)
c.703C>G (p.Gln235Glu)
c.762C>G
c.1894C>G (p.Gln632Glu)
c.3022C>G (p.Gln1008Glu)
c.3202C>G (p.Gln1068Glu)
c.2869C>G (p.Gln957Glu)
 gnomAD v4
7g.117610642C>TCA368990807CFTRc.3112C>T (p.Gln1038Ter)
c.*2826C>T (n.*2826C>T)
c.2929C>T (p.Gln977Ter)
c.*1412C>T (n.*1412C>T)
c.*2936C>T (n.*2936C>T)
c.2686C>T (p.Gln896Ter)
c.703C>T (p.Gln235Ter)
c.762C>T
c.1894C>T (p.Gln632Ter)
c.3022C>T (p.Gln1008Ter)
c.3202C>T (p.Gln1068Ter)
c.2869C>T (p.Gln957Ter)
7g.117610644_117610646dupCA832118244CFTRc.3114_3116dup (p.Gln1039_Leu1040insGln)
c.*2828_*2830dup (n.*2828_*2830dup)
c.2931_2933dup (p.Gln978_Leu979insGln)
c.*1414_*1416dup (n.*1414_*1416dup)
c.*2938_*2940dup (n.*2938_*2940dup)
c.2688_2690dup (p.Gln897_Leu898insGln)
c.705_707dup (p.Gln236_Leu237insGln)
c.764_766dup
c.1896_1898dup (p.Gln633_Leu634insGln)
c.3024_3026dup (p.Gln1009_Leu1010insGln)
c.3204_3206dup (p.Gln1069_Leu1070insGln)
c.2871_2873dup (p.Gln958_Leu959insGln)
 ClinVar dbSNP
7g.117610643A>CCA368990808CFTRc.3113A>C (p.Gln1038Pro)
c.*2827A>C (n.*2827A>C)
c.2930A>C (p.Gln977Pro)
c.*1413A>C (n.*1413A>C)
c.*2937A>C (n.*2937A>C)
c.2687A>C (p.Gln896Pro)
c.704A>C (p.Gln235Pro)
c.763A>C
c.1895A>C (p.Gln632Pro)
c.3023A>C (p.Gln1008Pro)
c.3203A>C (p.Gln1068Pro)
c.2870A>C (p.Gln957Pro)
7g.117610643A>GCA368990809CFTRc.3113A>G (p.Gln1038Arg)
c.*2827A>G (n.*2827A>G)
c.2930A>G (p.Gln977Arg)
c.*1413A>G (n.*1413A>G)
c.*2937A>G (n.*2937A>G)
c.2687A>G (p.Gln896Arg)
c.704A>G (p.Gln235Arg)
c.763A>G
c.1895A>G (p.Gln632Arg)
c.3023A>G (p.Gln1008Arg)
c.3203A>G (p.Gln1068Arg)
c.2870A>G (p.Gln957Arg)
7g.117610643A>TCA368990810CFTRc.3113A>T (p.Gln1038Leu)
c.*2827A>T (n.*2827A>T)
c.2930A>T (p.Gln977Leu)
c.*1413A>T (n.*1413A>T)
c.*2937A>T (n.*2937A>T)
c.2687A>T (p.Gln896Leu)
c.704A>T (p.Gln235Leu)
c.763A>T
c.1895A>T (p.Gln632Leu)
c.3023A>T (p.Gln1008Leu)
c.3203A>T (p.Gln1068Leu)
c.2870A>T (p.Gln957Leu)
7g.117610644G>ACA457229507CFTRc.3114G>A (p.Gln1038=)
c.*2828G>A (n.*2828G>A)
c.2931G>A (p.Gln977=)
c.*1414G>A (n.*1414G>A)
c.*2938G>A (n.*2938G>A)
c.2688G>A (p.Gln896=)
c.705G>A (p.Gln235=)
c.764G>A
c.1896G>A (p.Gln632=)
c.3024G>A (p.Gln1008=)
c.3204G>A (p.Gln1068=)
c.2871G>A (p.Gln957=)
 ClinVar dbSNP
7g.117610644G>CCA368990811CFTRc.3114G>C (p.Gln1038His)
c.*2828G>C (n.*2828G>C)
c.2931G>C (p.Gln977His)
c.*1414G>C (n.*1414G>C)
c.*2938G>C (n.*2938G>C)
c.2688G>C (p.Gln896His)
c.705G>C (p.Gln235His)
c.764G>C
c.1896G>C (p.Gln632His)
c.3024G>C (p.Gln1008His)
c.3204G>C (p.Gln1068His)
c.2871G>C (p.Gln957His)
7g.117610644G>TCA368990812CFTRc.3114G>T (p.Gln1038His)
c.*2828G>T (n.*2828G>T)
c.2931G>T (p.Gln977His)
c.*1414G>T (n.*1414G>T)
c.*2938G>T (n.*2938G>T)
c.2688G>T (p.Gln896His)
c.705G>T (p.Gln235His)
c.764G>T
c.1896G>T (p.Gln632His)
c.3024G>T (p.Gln1008His)
c.3204G>T (p.Gln1068His)
c.2871G>T (p.Gln957His)
7g.117610645C>ACA368990814CFTRc.3115C>A (p.Gln1039Lys)
c.*2829C>A (n.*2829C>A)
c.2932C>A (p.Gln978Lys)
c.*1415C>A (n.*1415C>A)
c.*2939C>A (n.*2939C>A)
c.2689C>A (p.Gln897Lys)
c.706C>A (p.Gln236Lys)
c.765C>A
c.1897C>A (p.Gln633Lys)
c.3025C>A (p.Gln1009Lys)
c.3205C>A (p.Gln1069Lys)
c.2872C>A (p.Gln958Lys)
7g.117610645C>GCA368990815CFTRc.3115C>G (p.Gln1039Glu)
c.*2829C>G (n.*2829C>G)
c.2932C>G (p.Gln978Glu)
c.*1415C>G (n.*1415C>G)
c.*2939C>G (n.*2939C>G)
c.2689C>G (p.Gln897Glu)
c.706C>G (p.Gln236Glu)
c.765C>G
c.1897C>G (p.Gln633Glu)
c.3025C>G (p.Gln1009Glu)
c.3205C>G (p.Gln1069Glu)
c.2872C>G (p.Gln958Glu)
7g.117610645C>TCA368990813CFTRc.3115C>T (p.Gln1039Ter)
c.*2829C>T (n.*2829C>T)
c.2932C>T (p.Gln978Ter)
c.*1415C>T (n.*1415C>T)
c.*2939C>T (n.*2939C>T)
c.2689C>T (p.Gln897Ter)
c.706C>T (p.Gln236Ter)
c.765C>T
c.1897C>T (p.Gln633Ter)
c.3025C>T (p.Gln1009Ter)
c.3205C>T (p.Gln1069Ter)
c.2872C>T (p.Gln958Ter)
7g.117610646A=CA1737385169CFTRc.3116A= (p.Gln1039=)
c.*2830A= (n.*2830A=)
c.2933A= (p.Gln978=)
c.*1416A= (n.*1416A=)
c.*2940A= (n.*2940A=)
c.2690A= (p.Gln897=)
c.707A= (p.Gln236=)
c.766A=
c.1898A= (p.Gln633=)
c.3026A= (p.Gln1009=)
c.3206A= (p.Gln1069=)
c.2873A= (p.Gln958=)
7g.117610646A>CCA368990816CFTRc.3116A>C (p.Gln1039Pro)
c.*2830A>C (n.*2830A>C)
c.2933A>C (p.Gln978Pro)
c.*1416A>C (n.*1416A>C)
c.*2940A>C (n.*2940A>C)
c.2690A>C (p.Gln897Pro)
c.707A>C (p.Gln236Pro)
c.766A>C
c.1898A>C (p.Gln633Pro)
c.3026A>C (p.Gln1009Pro)
c.3206A>C (p.Gln1069Pro)
c.2873A>C (p.Gln958Pro)
7g.117610646A>GCA4451378CFTRc.3116A>G (p.Gln1039Arg)
c.*2830A>G (n.*2830A>G)
c.2933A>G (p.Gln978Arg)
c.*1416A>G (n.*1416A>G)
c.*2940A>G (n.*2940A>G)
c.2690A>G (p.Gln897Arg)
c.707A>G (p.Gln236Arg)
c.766A>G
c.1898A>G (p.Gln633Arg)
c.3026A>G (p.Gln1009Arg)
c.3206A>G (p.Gln1069Arg)
c.2873A>G (p.Gln958Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117610646A>TCA368990817CFTRc.3116A>T (p.Gln1039Leu)
c.*2830A>T (n.*2830A>T)
c.2933A>T (p.Gln978Leu)
c.*1416A>T (n.*1416A>T)
c.*2940A>T (n.*2940A>T)
c.2690A>T (p.Gln897Leu)
c.707A>T (p.Gln236Leu)
c.766A>T
c.1898A>T (p.Gln633Leu)
c.3026A>T (p.Gln1009Leu)
c.3206A>T (p.Gln1069Leu)
c.2873A>T (p.Gln958Leu)
7g.117610647A>CCA368990818CFTRc.3117A>C (p.Gln1039His)
c.*2831A>C (n.*2831A>C)
c.2934A>C (p.Gln978His)
c.*1417A>C (n.*1417A>C)
c.*2941A>C (n.*2941A>C)
c.2691A>C (p.Gln897His)
c.708A>C (p.Gln236His)
c.767A>C
c.1899A>C (p.Gln633His)
c.3027A>C (p.Gln1009His)
c.3207A>C (p.Gln1069His)
c.2874A>C (p.Gln958His)
7g.117610647A>GCA457229518CFTRc.3117A>G (p.Gln1039=)
c.*2831A>G (n.*2831A>G)
c.2934A>G (p.Gln978=)
c.*1417A>G (n.*1417A>G)
c.*2941A>G (n.*2941A>G)
c.2691A>G (p.Gln897=)
c.708A>G (p.Gln236=)
c.767A>G
c.1899A>G (p.Gln633=)
c.3027A>G (p.Gln1009=)
c.3207A>G (p.Gln1069=)
c.2874A>G (p.Gln958=)
 ClinVar
7g.117610647A>TCA368990819CFTRc.3117A>T (p.Gln1039His)
c.*2831A>T (n.*2831A>T)
c.2934A>T (p.Gln978His)
c.*1417A>T (n.*1417A>T)
c.*2941A>T (n.*2941A>T)
c.2691A>T (p.Gln897His)
c.708A>T (p.Gln236His)
c.767A>T
c.1899A>T (p.Gln633His)
c.3027A>T (p.Gln1009His)
c.3207A>T (p.Gln1069His)
c.2874A>T (p.Gln958His)
7g.117610648C>ACA368990822CFTRc.3118C>A (p.Leu1040Ile)
c.*2832C>A (n.*2832C>A)
c.2935C>A (p.Leu979Ile)
c.*1418C>A (n.*1418C>A)
c.*2942C>A (n.*2942C>A)
c.2692C>A (p.Leu898Ile)
c.709C>A (p.Leu237Ile)
c.768C>A
c.1900C>A (p.Leu634Ile)
c.3028C>A (p.Leu1010Ile)
c.3208C>A (p.Leu1070Ile)
c.2875C>A (p.Leu959Ile)
7g.117610648C=CA1737385175CFTRc.3118C= (p.Leu1040=)
c.*2832C= (n.*2832C=)
c.2935C= (p.Leu979=)
c.*1418C= (n.*1418C=)
c.*2942C= (n.*2942C=)
c.2692C= (p.Leu898=)
c.709C= (p.Leu237=)
c.768C=
c.1900C= (p.Leu634=)
c.3028C= (p.Leu1010=)
c.3208C= (p.Leu1070=)
c.2875C= (p.Leu959=)
7g.117610648C>GCA368990820CFTRc.3118C>G (p.Leu1040Val)
c.*2832C>G (n.*2832C>G)
c.2935C>G (p.Leu979Val)
c.*1418C>G (n.*1418C>G)
c.*2942C>G (n.*2942C>G)
c.2692C>G (p.Leu898Val)
c.709C>G (p.Leu237Val)
c.768C>G
c.1900C>G (p.Leu634Val)
c.3028C>G (p.Leu1010Val)
c.3208C>G (p.Leu1070Val)
c.2875C>G (p.Leu959Val)
7g.117610648C>TCA368990821CFTRc.3118C>T (p.Leu1040Phe)
c.*2832C>T (n.*2832C>T)
c.2935C>T (p.Leu979Phe)
c.*1418C>T (n.*1418C>T)
c.*2942C>T (n.*2942C>T)
c.2692C>T (p.Leu898Phe)
c.709C>T (p.Leu237Phe)
c.768C>T
c.1900C>T (p.Leu634Phe)
c.3028C>T (p.Leu1010Phe)
c.3208C>T (p.Leu1070Phe)
c.2875C>T (p.Leu959Phe)
 ClinVar dbSNP gnomAD v4
7g.117610649T>ACA368990823CFTRc.3119T>A (p.Leu1040His)
c.*2833T>A (n.*2833T>A)
c.2936T>A (p.Leu979His)
c.*1419T>A (n.*1419T>A)
c.*2943T>A (n.*2943T>A)
c.2693T>A (p.Leu898His)
c.710T>A (p.Leu237His)
c.769T>A
c.1901T>A (p.Leu634His)
c.3029T>A (p.Leu1010His)
c.3209T>A (p.Leu1070His)
c.2876T>A (p.Leu959His)
7g.117610649T>CCA368990824CFTRc.3119T>C (p.Leu1040Pro)
c.*2833T>C (n.*2833T>C)
c.2936T>C (p.Leu979Pro)
c.*1419T>C (n.*1419T>C)
c.*2943T>C (n.*2943T>C)
c.2693T>C (p.Leu898Pro)
c.710T>C (p.Leu237Pro)
c.769T>C
c.1901T>C (p.Leu634Pro)
c.3029T>C (p.Leu1010Pro)
c.3209T>C (p.Leu1070Pro)
c.2876T>C (p.Leu959Pro)
 ClinVar gnomAD v4
7g.117610649T>GCA368990825CFTRc.3119T>G (p.Leu1040Arg)
c.*2833T>G (n.*2833T>G)
c.2936T>G (p.Leu979Arg)
c.*1419T>G (n.*1419T>G)
c.*2943T>G (n.*2943T>G)
c.2693T>G (p.Leu898Arg)
c.710T>G (p.Leu237Arg)
c.769T>G
c.1901T>G (p.Leu634Arg)
c.3029T>G (p.Leu1010Arg)
c.3209T>G (p.Leu1070Arg)
c.2876T>G (p.Leu959Arg)
7g.117610650C>ACA457229529CFTRc.3120C>A (p.Leu1040=)
c.*2834C>A (n.*2834C>A)
c.2937C>A (p.Leu979=)
c.*1420C>A (n.*1420C>A)
c.*2944C>A (n.*2944C>A)
c.2694C>A (p.Leu898=)
c.711C>A (p.Leu237=)
c.770C>A
c.1902C>A (p.Leu634=)
c.3030C>A (p.Leu1010=)
c.3210C>A (p.Leu1070=)
c.2877C>A (p.Leu959=)
7g.117610650C=CA1737385178CFTRc.3120C= (p.Leu1040=)
c.*2834C= (n.*2834C=)
c.2937C= (p.Leu979=)
c.*1420C= (n.*1420C=)
c.*2944C= (n.*2944C=)
c.2694C= (p.Leu898=)
c.711C= (p.Leu237=)
c.770C=
c.1902C= (p.Leu634=)
c.3030C= (p.Leu1010=)
c.3210C= (p.Leu1070=)
c.2877C= (p.Leu959=)
7g.117610650C>GCA457229530CFTRc.3120C>G (p.Leu1040=)
c.*2834C>G (n.*2834C>G)
c.2937C>G (p.Leu979=)
c.*1420C>G (n.*1420C>G)
c.*2944C>G (n.*2944C>G)
c.2694C>G (p.Leu898=)
c.711C>G (p.Leu237=)
c.770C>G
c.1902C>G (p.Leu634=)
c.3030C>G (p.Leu1010=)
c.3210C>G (p.Leu1070=)
c.2877C>G (p.Leu959=)
7g.117610650C>TCA457229533CFTRc.3120C>T (p.Leu1040=)
c.*2834C>T (n.*2834C>T)
c.2937C>T (p.Leu979=)
c.*1420C>T (n.*1420C>T)
c.*2944C>T (n.*2944C>T)
c.2694C>T (p.Leu898=)
c.711C>T (p.Leu237=)
c.770C>T
c.1902C>T (p.Leu634=)
c.3030C>T (p.Leu1010=)
c.3210C>T (p.Leu1070=)
c.2877C>T (p.Leu959=)
 ClinVar
7g.117610651A=CA1737385188CFTRc.3121A= (p.Lys1041=)
c.*2835A= (n.*2835A=)
c.2938A= (p.Lys980=)
c.*1421A= (n.*1421A=)
c.*2945A= (n.*2945A=)
c.2695A= (p.Lys899=)
c.712A= (p.Lys238=)
c.771A=
c.1903A= (p.Lys635=)
c.3031A= (p.Lys1011=)
c.3211A= (p.Lys1071=)
c.2878A= (p.Lys960=)
7g.117610651A>CCA4451379CFTRc.3121A>C (p.Lys1041Gln)
c.*2835A>C (n.*2835A>C)
c.2938A>C (p.Lys980Gln)
c.*1421A>C (n.*1421A>C)
c.*2945A>C (n.*2945A>C)
c.2695A>C (p.Lys899Gln)
c.712A>C (p.Lys238Gln)
c.771A>C
c.1903A>C (p.Lys635Gln)
c.3031A>C (p.Lys1011Gln)
c.3211A>C (p.Lys1071Gln)
c.2878A>C (p.Lys960Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117610651A>GCA368990826CFTRc.3121A>G (p.Lys1041Glu)
c.*2835A>G (n.*2835A>G)
c.2938A>G (p.Lys980Glu)
c.*1421A>G (n.*1421A>G)
c.*2945A>G (n.*2945A>G)
c.2695A>G (p.Lys899Glu)
c.712A>G (p.Lys238Glu)
c.771A>G
c.1903A>G (p.Lys635Glu)
c.3031A>G (p.Lys1011Glu)
c.3211A>G (p.Lys1071Glu)
c.2878A>G (p.Lys960Glu)
7g.117610651A>TCA368990827CFTRc.3121A>T (p.Lys1041Ter)
c.*2835A>T (n.*2835A>T)
c.2938A>T (p.Lys980Ter)
c.*1421A>T (n.*1421A>T)
c.*2945A>T (n.*2945A>T)
c.2695A>T (p.Lys899Ter)
c.712A>T (p.Lys238Ter)
c.771A>T
c.1903A>T (p.Lys635Ter)
c.3031A>T (p.Lys1011Ter)
c.3211A>T (p.Lys1071Ter)
c.2878A>T (p.Lys960Ter)
7g.117610653dupCA832118266CFTRc.3123dup (p.Gln1042ThrfsTer5)
c.*2837dup (n.*2837dup)
c.2940dup (p.Gln981ThrfsTer5)
c.*1423dup (n.*1423dup)
c.*2947dup (n.*2947dup)
c.2697dup (p.Gln900ThrfsTer5)
c.714dup (p.Gln239ThrfsTer5)
c.773dup
c.1905dup (p.Gln636ThrfsTer5)
c.3033dup (p.Gln1012ThrfsTer5)
c.3213dup (p.Gln1072ThrfsTer5)
c.2880dup (p.Gln961ThrfsTer5)
 dbSNP gnomAD v3 gnomAD v4
7g.117610652A=CA1737385196CFTRc.3122A= (p.Lys1041=)
c.*2836A= (n.*2836A=)
c.2939A= (p.Lys980=)
c.*1422A= (n.*1422A=)
c.*2946A= (n.*2946A=)
c.2696A= (p.Lys899=)
c.713A= (p.Lys238=)
c.772A=
c.1904A= (p.Lys635=)
c.3032A= (p.Lys1011=)
c.3212A= (p.Lys1071=)
c.2879A= (p.Lys960=)
7g.117610652A>CCA368990829CFTRc.3122A>C (p.Lys1041Thr)
c.*2836A>C (n.*2836A>C)
c.2939A>C (p.Lys980Thr)
c.*1422A>C (n.*1422A>C)
c.*2946A>C (n.*2946A>C)
c.2696A>C (p.Lys899Thr)
c.713A>C (p.Lys238Thr)
c.772A>C
c.1904A>C (p.Lys635Thr)
c.3032A>C (p.Lys1011Thr)
c.3212A>C (p.Lys1071Thr)
c.2879A>C (p.Lys960Thr)
7g.117610652A>GCA368990830CFTRc.3122A>G (p.Lys1041Arg)
c.*2836A>G (n.*2836A>G)
c.2939A>G (p.Lys980Arg)
c.*1422A>G (n.*1422A>G)
c.*2946A>G (n.*2946A>G)
c.2696A>G (p.Lys899Arg)
c.713A>G (p.Lys238Arg)
c.772A>G
c.1904A>G (p.Lys635Arg)
c.3032A>G (p.Lys1011Arg)
c.3212A>G (p.Lys1071Arg)
c.2879A>G (p.Lys960Arg)
 ClinVar dbSNP gnomAD v4
7g.117610652A>TCA368990828CFTRc.3122A>T (p.Lys1041Ile)
c.*2836A>T (n.*2836A>T)
c.2939A>T (p.Lys980Ile)
c.*1422A>T (n.*1422A>T)
c.*2946A>T (n.*2946A>T)
c.2696A>T (p.Lys899Ile)
c.713A>T (p.Lys238Ile)
c.772A>T
c.1904A>T (p.Lys635Ile)
c.3032A>T (p.Lys1011Ile)
c.3212A>T (p.Lys1071Ile)
c.2879A>T (p.Lys960Ile)
7g.117610653A>CCA368990832CFTRc.3123A>C (p.Lys1041Asn)
c.*2837A>C (n.*2837A>C)
c.2940A>C (p.Lys980Asn)
c.*1423A>C (n.*1423A>C)
c.*2947A>C (n.*2947A>C)
c.2697A>C (p.Lys899Asn)
c.714A>C (p.Lys238Asn)
c.773A>C
c.1905A>C (p.Lys635Asn)
c.3033A>C (p.Lys1011Asn)
c.3213A>C (p.Lys1071Asn)
c.2880A>C (p.Lys960Asn)
7g.117610653A>GCA457229543CFTRc.3123A>G (p.Lys1041=)
c.*2837A>G (n.*2837A>G)
c.2940A>G (p.Lys980=)
c.*1423A>G (n.*1423A>G)
c.*2947A>G (n.*2947A>G)
c.2697A>G (p.Lys899=)
c.714A>G (p.Lys238=)
c.773A>G
c.1905A>G (p.Lys635=)
c.3033A>G (p.Lys1011=)
c.3213A>G (p.Lys1071=)
c.2880A>G (p.Lys960=)
7g.117610653A>TCA368990831CFTRc.3123A>T (p.Lys1041Asn)
c.*2837A>T (n.*2837A>T)
c.2940A>T (p.Lys980Asn)
c.*1423A>T (n.*1423A>T)
c.*2947A>T (n.*2947A>T)
c.2697A>T (p.Lys899Asn)
c.714A>T (p.Lys238Asn)
c.773A>T
c.1905A>T (p.Lys635Asn)
c.3033A>T (p.Lys1011Asn)
c.3213A>T (p.Lys1071Asn)
c.2880A>T (p.Lys960Asn)
7g.117610654C>ACA368990833CFTRc.3124C>A (p.Gln1042Lys)
c.*2838C>A (n.*2838C>A)
c.2941C>A (p.Gln981Lys)
c.*1424C>A (n.*1424C>A)
c.*2948C>A (n.*2948C>A)
c.2698C>A (p.Gln900Lys)
c.715C>A (p.Gln239Lys)
c.774C>A
c.1906C>A (p.Gln636Lys)
c.3034C>A (p.Gln1012Lys)
c.3214C>A (p.Gln1072Lys)
c.2881C>A (p.Gln961Lys)
7g.117610654C=CA1737385201CFTRc.3124C= (p.Gln1042=)
c.*2838C= (n.*2838C=)
c.2941C= (p.Gln981=)
c.*1424C= (n.*1424C=)
c.*2948C= (n.*2948C=)
c.2698C= (p.Gln900=)
c.715C= (p.Gln239=)
c.774C=
c.1906C= (p.Gln636=)
c.3034C= (p.Gln1012=)
c.3214C= (p.Gln1072=)
c.2881C= (p.Gln961=)
7g.117610654C>GCA368990834CFTRc.3124C>G (p.Gln1042Glu)
c.*2838C>G (n.*2838C>G)
c.2941C>G (p.Gln981Glu)
c.*1424C>G (n.*1424C>G)
c.*2948C>G (n.*2948C>G)
c.2698C>G (p.Gln900Glu)
c.715C>G (p.Gln239Glu)
c.774C>G
c.1906C>G (p.Gln636Glu)
c.3034C>G (p.Gln1012Glu)
c.3214C>G (p.Gln1072Glu)
c.2881C>G (p.Gln961Glu)
7g.117610654C>TCA327049CFTRc.3124C>T (p.Gln1042Ter)
c.*2838C>T (n.*2838C>T)
c.2941C>T (p.Gln981Ter)
c.*1424C>T (n.*1424C>T)
c.*2948C>T (n.*2948C>T)
c.2698C>T (p.Gln900Ter)
c.715C>T (p.Gln239Ter)
c.774C>T
c.1906C>T (p.Gln636Ter)
c.3034C>T (p.Gln1012Ter)
c.3214C>T (p.Gln1072Ter)
c.2881C>T (p.Gln961Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117610655A=CA1737385210CFTRc.3125A= (p.Gln1042=)
c.*2839A= (n.*2839A=)
c.2942A= (p.Gln981=)
c.*1425A= (n.*1425A=)
c.*2949A= (n.*2949A=)
c.2699A= (p.Gln900=)
c.716A= (p.Gln239=)
c.775A=
c.1907A= (p.Gln636=)
c.3035A= (p.Gln1012=)
c.3215A= (p.Gln1072=)
c.2882A= (p.Gln961=)
7g.117610655A>CCA368990835CFTRc.3125A>C (p.Gln1042Pro)
c.*2839A>C (n.*2839A>C)
c.2942A>C (p.Gln981Pro)
c.*1425A>C (n.*1425A>C)
c.*2949A>C (n.*2949A>C)
c.2699A>C (p.Gln900Pro)
c.716A>C (p.Gln239Pro)
c.775A>C
c.1907A>C (p.Gln636Pro)
c.3035A>C (p.Gln1012Pro)
c.3215A>C (p.Gln1072Pro)
c.2882A>C (p.Gln961Pro)
 gnomAD v4
7g.117610655A>GCA368990836CFTRc.3125A>G (p.Gln1042Arg)
c.*2839A>G (n.*2839A>G)
c.2942A>G (p.Gln981Arg)
c.*1425A>G (n.*1425A>G)
c.*2949A>G (n.*2949A>G)
c.2699A>G (p.Gln900Arg)
c.716A>G (p.Gln239Arg)
c.775A>G
c.1907A>G (p.Gln636Arg)
c.3035A>G (p.Gln1012Arg)
c.3215A>G (p.Gln1072Arg)
c.2882A>G (p.Gln961Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117610655A>TCA368990837CFTRc.3125A>T (p.Gln1042Leu)
c.*2839A>T (n.*2839A>T)
c.2942A>T (p.Gln981Leu)
c.*1425A>T (n.*1425A>T)
c.*2949A>T (n.*2949A>T)
c.2699A>T (p.Gln900Leu)
c.716A>T (p.Gln239Leu)
c.775A>T
c.1907A>T (p.Gln636Leu)
c.3035A>T (p.Gln1012Leu)
c.3215A>T (p.Gln1072Leu)
c.2882A>T (p.Gln961Leu)
7g.117610656A>CCA368990838CFTRc.3126A>C (p.Gln1042His)
c.*2840A>C (n.*2840A>C)
c.2943A>C (p.Gln981His)
c.*1426A>C (n.*1426A>C)
c.*2950A>C (n.*2950A>C)
c.2700A>C (p.Gln900His)
c.717A>C (p.Gln239His)
c.776A>C
c.1908A>C (p.Gln636His)
c.3036A>C (p.Gln1012His)
c.3216A>C (p.Gln1072His)
c.2883A>C (p.Gln961His)
7g.117610656A>GCA457229554CFTRc.3126A>G (p.Gln1042=)
c.*2840A>G (n.*2840A>G)
c.2943A>G (p.Gln981=)
c.*1426A>G (n.*1426A>G)
c.*2950A>G (n.*2950A>G)
c.2700A>G (p.Gln900=)
c.717A>G (p.Gln239=)
c.776A>G
c.1908A>G (p.Gln636=)
c.3036A>G (p.Gln1012=)
c.3216A>G (p.Gln1072=)
c.2883A>G (p.Gln961=)
7g.117610656A>TCA368990839CFTRc.3126A>T (p.Gln1042His)
c.*2840A>T (n.*2840A>T)
c.2943A>T (p.Gln981His)
c.*1426A>T (n.*1426A>T)
c.*2950A>T (n.*2950A>T)
c.2700A>T (p.Gln900His)
c.717A>T (p.Gln239His)
c.776A>T
c.1908A>T (p.Gln636His)
c.3036A>T (p.Gln1012His)
c.3216A>T (p.Gln1072His)
c.2883A>T (p.Gln961His)
7g.117610657C>ACA368990840CFTRc.3127C>A (p.Leu1043Met)
c.*2841C>A (n.*2841C>A)
c.2944C>A (p.Leu982Met)
c.*1427C>A (n.*1427C>A)
c.*2951C>A (n.*2951C>A)
c.2701C>A (p.Leu901Met)
c.718C>A (p.Leu240Met)
c.777C>A
c.1909C>A (p.Leu637Met)
c.3037C>A (p.Leu1013Met)
c.3217C>A (p.Leu1073Met)
c.2884C>A (p.Leu962Met)
7g.117610657C>GCA368990841CFTRc.3127C>G (p.Leu1043Val)
c.*2841C>G (n.*2841C>G)
c.2944C>G (p.Leu982Val)
c.*1427C>G (n.*1427C>G)
c.*2951C>G (n.*2951C>G)
c.2701C>G (p.Leu901Val)
c.718C>G (p.Leu240Val)
c.777C>G
c.1909C>G (p.Leu637Val)
c.3037C>G (p.Leu1013Val)
c.3217C>G (p.Leu1073Val)
c.2884C>G (p.Leu962Val)
7g.117610657C>TCA457229558CFTRc.3127C>T (p.Leu1043=)
c.*2841C>T (n.*2841C>T)
c.2944C>T (p.Leu982=)
c.*1427C>T (n.*1427C>T)
c.*2951C>T (n.*2951C>T)
c.2701C>T (p.Leu901=)
c.718C>T (p.Leu240=)
c.777C>T
c.1909C>T (p.Leu637=)
c.3037C>T (p.Leu1013=)
c.3217C>T (p.Leu1073=)
c.2884C>T (p.Leu962=)
7g.117610658T>ACA164965384CFTRc.3128T>A (p.Leu1043Gln)
c.*2842T>A (n.*2842T>A)
c.2945T>A (p.Leu982Gln)
c.*1428T>A (n.*1428T>A)
c.*2952T>A (n.*2952T>A)
c.2702T>A (p.Leu901Gln)
c.719T>A (p.Leu240Gln)
c.778T>A
c.1910T>A (p.Leu637Gln)
c.3038T>A (p.Leu1013Gln)
c.3218T>A (p.Leu1073Gln)
c.2885T>A (p.Leu962Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117610658T>CCA368990842CFTRc.3128T>C (p.Leu1043Pro)
c.*2842T>C (n.*2842T>C)
c.2945T>C (p.Leu982Pro)
c.*1428T>C (n.*1428T>C)
c.*2952T>C (n.*2952T>C)
c.2702T>C (p.Leu901Pro)
c.719T>C (p.Leu240Pro)
c.778T>C
c.1910T>C (p.Leu637Pro)
c.3038T>C (p.Leu1013Pro)
c.3218T>C (p.Leu1073Pro)
c.2885T>C (p.Leu962Pro)
7g.117610658T>GCA368990843CFTRc.3128T>G (p.Leu1043Arg)
c.*2842T>G (n.*2842T>G)
c.2945T>G (p.Leu982Arg)
c.*1428T>G (n.*1428T>G)
c.*2952T>G (n.*2952T>G)
c.2702T>G (p.Leu901Arg)
c.719T>G (p.Leu240Arg)
c.778T>G
c.1910T>G (p.Leu637Arg)
c.3038T>G (p.Leu1013Arg)
c.3218T>G (p.Leu1073Arg)
c.2885T>G (p.Leu962Arg)
7g.117610658T=CA1737385226CFTRc.3128T= (p.Leu1043=)
c.*2842T= (n.*2842T=)
c.2945T= (p.Leu982=)
c.*1428T= (n.*1428T=)
c.*2952T= (n.*2952T=)
c.2702T= (p.Leu901=)
c.719T= (p.Leu240=)
c.778T=
c.1910T= (p.Leu637=)
c.3038T= (p.Leu1013=)
c.3218T= (p.Leu1073=)
c.2885T= (p.Leu962=)
7g.117610659G>ACA457229565CFTRc.3129G>A (p.Leu1043=)
c.*2843G>A (n.*2843G>A)
c.2946G>A (p.Leu982=)
c.*1429G>A (n.*1429G>A)
c.*2953G>A (n.*2953G>A)
c.2703G>A (p.Leu901=)
c.720G>A (p.Leu240=)
c.779G>A
c.1911G>A (p.Leu637=)
c.3039G>A (p.Leu1013=)
c.3219G>A (p.Leu1073=)
c.2886G>A (p.Leu962=)
 ClinVar
7g.117610659G>CCA457229566CFTRc.3129G>C (p.Leu1043=)
c.*2843G>C (n.*2843G>C)
c.2946G>C (p.Leu982=)
c.*1429G>C (n.*1429G>C)
c.*2953G>C (n.*2953G>C)
c.2703G>C (p.Leu901=)
c.720G>C (p.Leu240=)
c.779G>C
c.1911G>C (p.Leu637=)
c.3039G>C (p.Leu1013=)
c.3219G>C (p.Leu1073=)
c.2886G>C (p.Leu962=)
7g.117610659G>TCA457229569CFTRc.3129G>T (p.Leu1043=)
c.*2843G>T (n.*2843G>T)
c.2946G>T (p.Leu982=)
c.*1429G>T (n.*1429G>T)
c.*2953G>T (n.*2953G>T)
c.2703G>T (p.Leu901=)
c.720G>T (p.Leu240=)
c.779G>T
c.1911G>T (p.Leu637=)
c.3039G>T (p.Leu1013=)
c.3219G>T (p.Leu1073=)
c.2886G>T (p.Leu962=)
7g.117610660G>ACA368990844CFTRc.3130G>A (p.Glu1044Lys)
c.*2844G>A (n.*2844G>A)
c.2947G>A (p.Glu983Lys)
c.*1430G>A (n.*1430G>A)
c.*2954G>A (n.*2954G>A)
c.2704G>A (p.Glu902Lys)
c.721G>A (p.Glu241Lys)
c.780G>A
c.1912G>A (p.Glu638Lys)
c.3040G>A (p.Glu1014Lys)
c.3220G>A (p.Glu1074Lys)
c.2887G>A (p.Glu963Lys)
7g.117610660G>CCA368990846CFTRc.3130G>C (p.Glu1044Gln)
c.*2844G>C (n.*2844G>C)
c.2947G>C (p.Glu983Gln)
c.*1430G>C (n.*1430G>C)
c.*2954G>C (n.*2954G>C)
c.2704G>C (p.Glu902Gln)
c.721G>C (p.Glu241Gln)
c.780G>C
c.1912G>C (p.Glu638Gln)
c.3040G>C (p.Glu1014Gln)
c.3220G>C (p.Glu1074Gln)
c.2887G>C (p.Glu963Gln)
 dbSNP gnomAD v2 gnomAD v4
7g.117610660G=CA1737385234CFTRc.3130G= (p.Glu1044=)
c.*2844G= (n.*2844G=)
c.2947G= (p.Glu983=)
c.*1430G= (n.*1430G=)
c.*2954G= (n.*2954G=)
c.2704G= (p.Glu902=)
c.721G= (p.Glu241=)
c.780G=
c.1912G= (p.Glu638=)
c.3040G= (p.Glu1014=)
c.3220G= (p.Glu1074=)
c.2887G= (p.Glu963=)
7g.117610660G>TCA368990845CFTRc.3130G>T (p.Glu1044Ter)
c.*2844G>T (n.*2844G>T)
c.2947G>T (p.Glu983Ter)
c.*1430G>T (n.*1430G>T)
c.*2954G>T (n.*2954G>T)
c.2704G>T (p.Glu902Ter)
c.721G>T (p.Glu241Ter)
c.780G>T
c.1912G>T (p.Glu638Ter)
c.3040G>T (p.Glu1014Ter)
c.3220G>T (p.Glu1074Ter)
c.2887G>T (p.Glu963Ter)
 dbSNP
7g.117610661A=CA1737385248CFTRc.3131A= (p.Glu1044=)
c.*2845A= (n.*2845A=)
c.2948A= (p.Glu983=)
c.*1431A= (n.*1431A=)
c.*2955A= (n.*2955A=)
c.2705A= (p.Glu902=)
c.722A= (p.Glu241=)
c.781A=
c.1913A= (p.Glu638=)
c.3041A= (p.Glu1014=)
c.3221A= (p.Glu1074=)
c.2888A= (p.Glu963=)
7g.117610661A>CCA368990847CFTRc.3131A>C (p.Glu1044Ala)
c.*2845A>C (n.*2845A>C)
c.2948A>C (p.Glu983Ala)
c.*1431A>C (n.*1431A>C)
c.*2955A>C (n.*2955A>C)
c.2705A>C (p.Glu902Ala)
c.722A>C (p.Glu241Ala)
c.781A>C
c.1913A>C (p.Glu638Ala)
c.3041A>C (p.Glu1014Ala)
c.3221A>C (p.Glu1074Ala)
c.2888A>C (p.Glu963Ala)
7g.117610661A>GCA327051CFTRc.3131A>G (p.Glu1044Gly)
c.*2845A>G (n.*2845A>G)
c.2948A>G (p.Glu983Gly)
c.*1431A>G (n.*1431A>G)
c.*2955A>G (n.*2955A>G)
c.2705A>G (p.Glu902Gly)
c.722A>G (p.Glu241Gly)
c.781A>G
c.1913A>G (p.Glu638Gly)
c.3041A>G (p.Glu1014Gly)
c.3221A>G (p.Glu1074Gly)
c.2888A>G (p.Glu963Gly)
 ClinVar dbSNP
7g.117610661A>TCA368990848CFTRc.3131A>T (p.Glu1044Val)
c.*2845A>T (n.*2845A>T)
c.2948A>T (p.Glu983Val)
c.*1431A>T (n.*1431A>T)
c.*2955A>T (n.*2955A>T)
c.2705A>T (p.Glu902Val)
c.722A>T (p.Glu241Val)
c.781A>T
c.1913A>T (p.Glu638Val)
c.3041A>T (p.Glu1014Val)
c.3221A>T (p.Glu1074Val)
c.2888A>T (p.Glu963Val)
7g.117610662A=CA1737385256CFTRc.3132A= (p.Glu1044=)
c.*2846A= (n.*2846A=)
c.2949A= (p.Glu983=)
c.*1432A= (n.*1432A=)
c.*2956A= (n.*2956A=)
c.2706A= (p.Glu902=)
c.723A= (p.Glu241=)
c.782A=
c.1914A= (p.Glu638=)
c.3042A= (p.Glu1014=)
c.3222A= (p.Glu1074=)
c.2889A= (p.Glu963=)
7g.117610662A>CCA368990849CFTRc.3132A>C (p.Glu1044Asp)
c.*2846A>C (n.*2846A>C)
c.2949A>C (p.Glu983Asp)
c.*1432A>C (n.*1432A>C)
c.*2956A>C (n.*2956A>C)
c.2706A>C (p.Glu902Asp)
c.723A>C (p.Glu241Asp)
c.782A>C
c.1914A>C (p.Glu638Asp)
c.3042A>C (p.Glu1014Asp)
c.3222A>C (p.Glu1074Asp)
c.2889A>C (p.Glu963Asp)
7g.117610662A>GCA457229578CFTRc.3132A>G (p.Glu1044=)
c.*2846A>G (n.*2846A>G)
c.2949A>G (p.Glu983=)
c.*1432A>G (n.*1432A>G)
c.*2956A>G (n.*2956A>G)
c.2706A>G (p.Glu902=)
c.723A>G (p.Glu241=)
c.782A>G
c.1914A>G (p.Glu638=)
c.3042A>G (p.Glu1014=)
c.3222A>G (p.Glu1074=)
c.2889A>G (p.Glu963=)
7g.117610662A>TCA368990850CFTRc.3132A>T (p.Glu1044Asp)
c.*2846A>T (n.*2846A>T)
c.2949A>T (p.Glu983Asp)
c.*1432A>T (n.*1432A>T)
c.*2956A>T (n.*2956A>T)
c.2706A>T (p.Glu902Asp)
c.723A>T (p.Glu241Asp)
c.782A>T
c.1914A>T (p.Glu638Asp)
c.3042A>T (p.Glu1014Asp)
c.3222A>T (p.Glu1074Asp)
c.2889A>T (p.Glu963Asp)
 dbSNP
7g.117610662_117610663insGACA1737385255CFTRc.3132_3133insGA (p.Ser1045AspfsTer16)
c.*2846_*2847insGA (n.*2846_*2847insGA)
c.2949_2950insGA (p.Ser984AspfsTer16)
c.*1432_*1433insGA (n.*1432_*1433insGA)
c.*2956_*2957insGA (n.*2956_*2957insGA)
c.2706_2707insGA (p.Ser903AspfsTer16)
c.723_724insGA (p.Ser242AspfsTer16)
c.782_783insGA
c.1914_1915insGA (p.Ser639AspfsTer16)
c.3042_3043insGA (p.Ser1015AspfsTer16)
c.3222_3223insGA (p.Ser1075AspfsTer16)
c.2889_2890insGA (p.Ser964AspfsTer16)
 dbSNP
7g.117610663T>ACA368990851CFTRc.3133T>A (p.Ser1045Thr)
c.*2847T>A (n.*2847T>A)
c.2950T>A (p.Ser984Thr)
c.*1433T>A (n.*1433T>A)
c.*2957T>A (n.*2957T>A)
c.2707T>A (p.Ser903Thr)
c.724T>A (p.Ser242Thr)
c.783T>A
c.1915T>A (p.Ser639Thr)
c.3043T>A (p.Ser1015Thr)
c.3223T>A (p.Ser1075Thr)
c.2890T>A (p.Ser964Thr)
7g.117610663T>CCA368990852CFTRc.3133T>C (p.Ser1045Pro)
c.*2847T>C (n.*2847T>C)
c.2950T>C (p.Ser984Pro)
c.*1433T>C (n.*1433T>C)
c.*2957T>C (n.*2957T>C)
c.2707T>C (p.Ser903Pro)
c.724T>C (p.Ser242Pro)
c.783T>C
c.1915T>C (p.Ser639Pro)
c.3043T>C (p.Ser1015Pro)
c.3223T>C (p.Ser1075Pro)
c.2890T>C (p.Ser964Pro)
7g.117610663T>GCA368990853CFTRc.3133T>G (p.Ser1045Ala)
c.*2847T>G (n.*2847T>G)
c.2950T>G (p.Ser984Ala)
c.*1433T>G (n.*1433T>G)
c.*2957T>G (n.*2957T>G)
c.2707T>G (p.Ser903Ala)
c.724T>G (p.Ser242Ala)
c.783T>G
c.1915T>G (p.Ser639Ala)
c.3043T>G (p.Ser1015Ala)
c.3223T>G (p.Ser1075Ala)
c.2890T>G (p.Ser964Ala)
7g.117610664C>ACA368990854CFTRc.3134C>A (p.Ser1045Tyr)
c.*2848C>A (n.*2848C>A)
c.2951C>A (p.Ser984Tyr)
c.*1434C>A (n.*1434C>A)
c.*2958C>A (n.*2958C>A)
c.2708C>A (p.Ser903Tyr)
c.725C>A (p.Ser242Tyr)
c.784C>A
c.1916C>A (p.Ser639Tyr)
c.3044C>A (p.Ser1015Tyr)
c.3224C>A (p.Ser1075Tyr)
c.2891C>A (p.Ser964Tyr)
 ClinVar dbSNP gnomAD v4
7g.117610664C=CA1737385260CFTRc.3134C= (p.Ser1045=)
c.*2848C= (n.*2848C=)
c.2951C= (p.Ser984=)
c.*1434C= (n.*1434C=)
c.*2958C= (n.*2958C=)
c.2708C= (p.Ser903=)
c.725C= (p.Ser242=)
c.784C=
c.1916C= (p.Ser639=)
c.3044C= (p.Ser1015=)
c.3224C= (p.Ser1075=)
c.2891C= (p.Ser964=)
7g.117610664C>GCA368990855CFTRc.3134C>G (p.Ser1045Cys)
c.*2848C>G (n.*2848C>G)
c.2951C>G (p.Ser984Cys)
c.*1434C>G (n.*1434C>G)
c.*2958C>G (n.*2958C>G)
c.2708C>G (p.Ser903Cys)
c.725C>G (p.Ser242Cys)
c.784C>G
c.1916C>G (p.Ser639Cys)
c.3044C>G (p.Ser1015Cys)
c.3224C>G (p.Ser1075Cys)
c.2891C>G (p.Ser964Cys)
7g.117610664C>TCA368990856CFTRc.3134C>T (p.Ser1045Phe)
c.*2848C>T (n.*2848C>T)
c.2951C>T (p.Ser984Phe)
c.*1434C>T (n.*1434C>T)
c.*2958C>T (n.*2958C>T)
c.2708C>T (p.Ser903Phe)
c.725C>T (p.Ser242Phe)
c.784C>T
c.1916C>T (p.Ser639Phe)
c.3044C>T (p.Ser1015Phe)
c.3224C>T (p.Ser1075Phe)
c.2891C>T (p.Ser964Phe)
 ClinVar dbSNP
7g.117610664_117610665insAACA1737385269CFTRc.3134_3135insAA (p.Glu1046MetfsTer15)
c.*2848_*2849insAA (n.*2848_*2849insAA)
c.2951_2952insAA (p.Glu985MetfsTer15)
c.*1434_*1435insAA (n.*1434_*1435insAA)
c.*2958_*2959insAA (n.*2958_*2959insAA)
c.2708_2709insAA (p.Glu904MetfsTer15)
c.725_726insAA (p.Glu243MetfsTer15)
c.784_785insAA
c.1916_1917insAA (p.Glu640MetfsTer15)
c.3044_3045insAA (p.Glu1016MetfsTer15)
c.3224_3225insAA (p.Glu1076MetfsTer15)
c.2891_2892insAA (p.Glu965MetfsTer15)
 dbSNP
7g.117610665T>ACA457229588CFTRc.3135T>A (p.Ser1045=)
c.*2849T>A (n.*2849T>A)
c.2952T>A (p.Ser984=)
c.*1435T>A (n.*1435T>A)
c.*2959T>A (n.*2959T>A)
c.2709T>A (p.Ser903=)
c.726T>A (p.Ser242=)
c.785T>A
c.1917T>A (p.Ser639=)
c.3045T>A (p.Ser1015=)
c.3225T>A (p.Ser1075=)
c.2892T>A (p.Ser964=)
 dbSNP
7g.117610665T>CCA457229590CFTRc.3135T>C (p.Ser1045=)
c.*2849T>C (n.*2849T>C)
c.2952T>C (p.Ser984=)
c.*1435T>C (n.*1435T>C)
c.*2959T>C (n.*2959T>C)
c.2709T>C (p.Ser903=)
c.726T>C (p.Ser242=)
c.785T>C
c.1917T>C (p.Ser639=)
c.3045T>C (p.Ser1015=)
c.3225T>C (p.Ser1075=)
c.2892T>C (p.Ser964=)
7g.117610665T>GCA457229592CFTRc.3135T>G (p.Ser1045=)
c.*2849T>G (n.*2849T>G)
c.2952T>G (p.Ser984=)
c.*1435T>G (n.*1435T>G)
c.*2959T>G (n.*2959T>G)
c.2709T>G (p.Ser903=)
c.726T>G (p.Ser242=)
c.785T>G
c.1917T>G (p.Ser639=)
c.3045T>G (p.Ser1015=)
c.3225T>G (p.Ser1075=)
c.2892T>G (p.Ser964=)
 dbSNP gnomAD v3 gnomAD v4
7g.117610665T=CA1737385268CFTRc.3135T= (p.Ser1045=)
c.*2849T= (n.*2849T=)
c.2952T= (p.Ser984=)
c.*1435T= (n.*1435T=)
c.*2959T= (n.*2959T=)
c.2709T= (p.Ser903=)
c.726T= (p.Ser242=)
c.785T=
c.1917T= (p.Ser639=)
c.3045T= (p.Ser1015=)
c.3225T= (p.Ser1075=)
c.2892T= (p.Ser964=)
7g.117610666G>ACA368990859CFTRc.3136G>A (p.Glu1046Lys)
c.*2850G>A (n.*2850G>A)
c.2953G>A (p.Glu985Lys)
c.*1436G>A (n.*1436G>A)
c.*2960G>A (n.*2960G>A)
c.2710G>A (p.Glu904Lys)
c.727G>A (p.Glu243Lys)
c.786G>A
c.1918G>A (p.Glu640Lys)
c.3046G>A (p.Glu1016Lys)
c.3226G>A (p.Glu1076Lys)
c.2893G>A (p.Glu965Lys)
7g.117610666G>CCA368990858CFTRc.3136G>C (p.Glu1046Gln)
c.*2850G>C (n.*2850G>C)
c.2953G>C (p.Glu985Gln)
c.*1436G>C (n.*1436G>C)
c.*2960G>C (n.*2960G>C)
c.2710G>C (p.Glu904Gln)
c.727G>C (p.Glu243Gln)
c.786G>C
c.1918G>C (p.Glu640Gln)
c.3046G>C (p.Glu1016Gln)
c.3226G>C (p.Glu1076Gln)
c.2893G>C (p.Glu965Gln)
7g.117610666G>TCA368990857CFTRc.3136G>T (p.Glu1046Ter)
c.*2850G>T (n.*2850G>T)
c.2953G>T (p.Glu985Ter)
c.*1436G>T (n.*1436G>T)
c.*2960G>T (n.*2960G>T)
c.2710G>T (p.Glu904Ter)
c.727G>T (p.Glu243Ter)
c.786G>T
c.1918G>T (p.Glu640Ter)
c.3046G>T (p.Glu1016Ter)
c.3226G>T (p.Glu1076Ter)
c.2893G>T (p.Glu965Ter)
7g.117610667A>CCA368990860CFTRc.3137A>C (p.Glu1046Ala)
c.*2851A>C (n.*2851A>C)
c.2954A>C (p.Glu985Ala)
c.*1437A>C (n.*1437A>C)
c.*2961A>C (n.*2961A>C)
c.2711A>C (p.Glu904Ala)
c.728A>C (p.Glu243Ala)
c.787A>C
c.1919A>C (p.Glu640Ala)
c.3047A>C (p.Glu1016Ala)
c.3227A>C (p.Glu1076Ala)
c.2894A>C (p.Glu965Ala)
7g.117610667A>GCA368990862CFTRc.3137A>G (p.Glu1046Gly)
c.*2851A>G (n.*2851A>G)
c.2954A>G (p.Glu985Gly)
c.*1437A>G (n.*1437A>G)
c.*2961A>G (n.*2961A>G)
c.2711A>G (p.Glu904Gly)
c.728A>G (p.Glu243Gly)
c.787A>G
c.1919A>G (p.Glu640Gly)
c.3047A>G (p.Glu1016Gly)
c.3227A>G (p.Glu1076Gly)
c.2894A>G (p.Glu965Gly)
7g.117610667A>TCA368990861CFTRc.3137A>T (p.Glu1046Val)
c.*2851A>T (n.*2851A>T)
c.2954A>T (p.Glu985Val)
c.*1437A>T (n.*1437A>T)
c.*2961A>T (n.*2961A>T)
c.2711A>T (p.Glu904Val)
c.728A>T (p.Glu243Val)
c.787A>T
c.1919A>T (p.Glu640Val)
c.3047A>T (p.Glu1016Val)
c.3227A>T (p.Glu1076Val)
c.2894A>T (p.Glu965Val)
 gnomAD v4
7g.117610668A=CA1737385277CFTRc.3138A= (p.Glu1046=)
c.*2852A= (n.*2852A=)
c.2955A= (p.Glu985=)
c.*1438A= (n.*1438A=)
c.*2962A= (n.*2962A=)
c.2712A= (p.Glu904=)
c.729A= (p.Glu243=)
c.788A=
c.1920A= (p.Glu640=)
c.3048A= (p.Glu1016=)
c.3228A= (p.Glu1076=)
c.2895A= (p.Glu965=)
7g.117610668A>CCA368990863CFTRc.3138A>C (p.Glu1046Asp)
c.*2852A>C (n.*2852A>C)
c.2955A>C (p.Glu985Asp)
c.*1438A>C (n.*1438A>C)
c.*2962A>C (n.*2962A>C)
c.2712A>C (p.Glu904Asp)
c.729A>C (p.Glu243Asp)
c.788A>C
c.1920A>C (p.Glu640Asp)
c.3048A>C (p.Glu1016Asp)
c.3228A>C (p.Glu1076Asp)
c.2895A>C (p.Glu965Asp)
7g.117610668A>GCA457229601CFTRc.3138A>G (p.Glu1046=)
c.*2852A>G (n.*2852A>G)
c.2955A>G (p.Glu985=)
c.*1438A>G (n.*1438A>G)
c.*2962A>G (n.*2962A>G)
c.2712A>G (p.Glu904=)
c.729A>G (p.Glu243=)
c.788A>G
c.1920A>G (p.Glu640=)
c.3048A>G (p.Glu1016=)
c.3228A>G (p.Glu1076=)
c.2895A>G (p.Glu965=)
7g.117610668A>TCA368990864CFTRc.3138A>T (p.Glu1046Asp)
c.*2852A>T (n.*2852A>T)
c.2955A>T (p.Glu985Asp)
c.*1438A>T (n.*1438A>T)
c.*2962A>T (n.*2962A>T)
c.2712A>T (p.Glu904Asp)
c.729A>T (p.Glu243Asp)
c.788A>T
c.1920A>T (p.Glu640Asp)
c.3048A>T (p.Glu1016Asp)
c.3228A>T (p.Glu1076Asp)
c.2895A>T (p.Glu965Asp)
7g.117610668_117610669delinsAGCA1737385274CFTRc.3138_3139delinsAG (p.Glu1046=)
c.*2852_*2853delinsAG (n.*2852_*2853delinsAG)
c.2955_2956delinsAG (p.Glu985=)
c.*1438_*1439delinsAG (n.*1438_*1439delinsAG)
c.*2962_*2963delinsAG (n.*2962_*2963delinsAG)
c.2712_2713delinsAG (p.Glu904=)
c.729_730delinsAG (p.Glu243=)
c.788_789delinsAG
c.1920_1921delinsAG (p.Glu640=)
c.3048_3049delinsAG (p.Glu1016=)
c.3228_3229delinsAG (p.Glu1076=)
c.2895_2896delinsAG (p.Glu965=)
7g.117610668_117610670delinsAGGCA1737385272CFTRc.3138_3139+1delinsAGG
c.*2852_*2853+1delinsAGG
c.2955_2956+1delinsAGG
c.*1438_*1439+1delinsAGG
c.*2962_*2963+1delinsAGG
c.2712_2713+1delinsAGG
c.729_730+1delinsAGG
c.788_789+1delinsAGG
c.1920_1921+1delinsAGG
c.3048_3049+1delinsAGG
c.3228_3229+1delinsAGG
c.2895_2896+1delinsAGG
7g.117610668_117610669insAACATGTTCA1737385292CFTRc.3138_3139insAACATGTT (p.Gly1047AsnfsTer16)
c.*2852_*2853insAACATGTT (n.*2852_*2853insAACATGTT)
c.2955_2956insAACATGTT (p.Gly986AsnfsTer16)
c.*1438_*1439insAACATGTT (n.*1438_*1439insAACATGTT)
c.*2962_*2963insAACATGTT (n.*2962_*2963insAACATGTT)
c.2712_2713insAACATGTT (p.Gly905AsnfsTer16)
c.729_730insAACATGTT (p.Gly244AsnfsTer16)
c.788_789insAACATGTT
c.1920_1921insAACATGTT (p.Gly641AsnfsTer16)
c.3048_3049insAACATGTT (p.Gly1017AsnfsTer16)
c.3228_3229insAACATGTT (p.Gly1077AsnfsTer16)
c.2895_2896insAACATGTT (p.Gly966AsnfsTer16)
 dbSNP
7g.117610669G>ACA368990865CFTRc.3139G>A (p.Gly1047Ser)
c.*2853G>A (n.*2853G>A)
c.2956G>A (p.Gly986Ser)
c.*1439G>A (n.*1439G>A)
c.*2963G>A (n.*2963G>A)
c.2713G>A (p.Gly905Ser)
c.730G>A (p.Gly244Ser)
c.789G>A
c.1921G>A (p.Gly641Ser)
c.3049G>A (p.Gly1017Ser)
c.3229G>A (p.Gly1077Ser)
c.2896G>A (p.Gly966Ser)
 ClinVar dbSNP
7g.117610669G>CCA327056CFTRc.3139G>C (p.Gly1047Arg)
c.*2853G>C (n.*2853G>C)
c.2956G>C (p.Gly986Arg)
c.*1439G>C (n.*1439G>C)
c.*2963G>C (n.*2963G>C)
c.2713G>C (p.Gly905Arg)
c.730G>C (p.Gly244Arg)
c.789G>C
c.1921G>C (p.Gly641Arg)
c.3049G>C (p.Gly1017Arg)
c.3229G>C (p.Gly1077Arg)
c.2896G>C (p.Gly966Arg)
 ClinVar dbSNP
7g.117610669G=CA1737385293CFTRc.3139G= (p.Gly1047=)
c.*2853G= (n.*2853G=)
c.2956G= (p.Gly986=)
c.*1439G= (n.*1439G=)
c.*2963G= (n.*2963G=)
c.2713G= (p.Gly905=)
c.730G= (p.Gly244=)
c.789G=
c.1921G= (p.Gly641=)
c.3049G= (p.Gly1017=)
c.3229G= (p.Gly1077=)
c.2896G= (p.Gly966=)
7g.117610669G>TCA10604591CFTRc.3139G>T (p.Gly1047Cys)
c.*2853G>T (n.*2853G>T)
c.2956G>T (p.Gly986Cys)
c.*1439G>T (n.*1439G>T)
c.*2963G>T (n.*2963G>T)
c.2713G>T (p.Gly905Cys)
c.730G>T (p.Gly244Cys)
c.789G>T
c.1921G>T (p.Gly641Cys)
c.3049G>T (p.Gly1017Cys)
c.3229G>T (p.Gly1077Cys)
c.2896G>T (p.Gly966Cys)
 ClinVar dbSNP
7g.117610669_117610670delCA327058CFTRc.3139_3139+1del
c.*2853_*2853+1del
c.2956_2956+1del
c.*1439_*1439+1del
c.*2963_*2963+1del
c.2713_2713+1del
c.730_730+1del
c.789_789+1del
c.1921_1921+1del
c.3049_3049+1del
c.3229_3229+1del
c.2896_2896+1del
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117610670delCA4451380CFTRc.3139+1del
c.*2853+1del
c.2956+1del
c.*1439+1del
c.*2963+1del
c.2713+1del
c.730+1del
c.789+1del
c.1921+1del
c.3049+1del
c.3229+1del
c.2896+1del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117610670G>ACA327054CFTRc.3139+1G>A (n.3139+1G>A)
c.*2853+1G>A (n.*2853+1G>A)
c.2956+1G>A (n.2956+1G>A)
c.*1439+1G>A (n.*1439+1G>A)
c.*2963+1G>A (n.*2963+1G>A)
c.2713+1G>A (n.2713+1G>A)
c.730+1G>A (n.730+1G>A)
c.789+1G>A
c.1921+1G>A (n.1921+1G>A)
c.3049+1G>A (n.3049+1G>A)
c.3229+1G>A (n.3229+1G>A)
c.2896+1G>A (n.2896+1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117610670G>CCA368990866CFTRc.3139+1G>C (n.3139+1G>C)
c.*2853+1G>C (n.*2853+1G>C)
c.2956+1G>C (n.2956+1G>C)
c.*1439+1G>C (n.*1439+1G>C)
c.*2963+1G>C (n.*2963+1G>C)
c.2713+1G>C (n.2713+1G>C)
c.730+1G>C (n.730+1G>C)
c.789+1G>C
c.1921+1G>C (n.1921+1G>C)
c.3049+1G>C (n.3049+1G>C)
c.3229+1G>C (n.3229+1G>C)
c.2896+1G>C (n.2896+1G>C)
7g.117610670G=CA1737385318CFTRc.3139+1G= (n.3139+1G=)
c.*2853+1G= (n.*2853+1G=)
c.2956+1G= (n.2956+1G=)
c.*1439+1G= (n.*1439+1G=)
c.*2963+1G= (n.*2963+1G=)
c.2713+1G= (n.2713+1G=)
c.730+1G= (n.730+1G=)
c.789+1G=
c.1921+1G= (n.1921+1G=)
c.3049+1G= (n.3049+1G=)
c.3229+1G= (n.3229+1G=)
c.2896+1G= (n.2896+1G=)
7g.117610670G>TCA327055CFTRc.3139+1G>T (n.3139+1G>T)
c.*2853+1G>T (n.*2853+1G>T)
c.2956+1G>T (n.2956+1G>T)
c.*1439+1G>T (n.*1439+1G>T)
c.*2963+1G>T (n.*2963+1G>T)
c.2713+1G>T (n.2713+1G>T)
c.730+1G>T (n.730+1G>T)
c.789+1G>T
c.1921+1G>T (n.1921+1G>T)
c.3049+1G>T (n.3049+1G>T)
c.3229+1G>T (n.3229+1G>T)
c.2896+1G>T (n.2896+1G>T)
 ClinVar dbSNP gnomAD v4
7g.117610671T>ACA368990869CFTRc.3139+2T>A (n.3139+2T>A)
c.*2853+2T>A (n.*2853+2T>A)
c.2956+2T>A (n.2956+2T>A)
c.*1439+2T>A (n.*1439+2T>A)
c.*2963+2T>A (n.*2963+2T>A)
c.2713+2T>A (n.2713+2T>A)
c.730+2T>A (n.730+2T>A)
c.789+2T>A
c.1921+2T>A (n.1921+2T>A)
c.3049+2T>A (n.3049+2T>A)
c.3229+2T>A (n.3229+2T>A)
c.2896+2T>A (n.2896+2T>A)
7g.117610671T>CCA368990868CFTRc.3139+2T>C (n.3139+2T>C)
c.*2853+2T>C (n.*2853+2T>C)
c.2956+2T>C (n.2956+2T>C)
c.*1439+2T>C (n.*1439+2T>C)
c.*2963+2T>C (n.*2963+2T>C)
c.2713+2T>C (n.2713+2T>C)
c.730+2T>C (n.730+2T>C)
c.789+2T>C
c.1921+2T>C (n.1921+2T>C)
c.3049+2T>C (n.3049+2T>C)
c.3229+2T>C (n.3229+2T>C)
c.2896+2T>C (n.2896+2T>C)
7g.117610671T>GCA368990867CFTRc.3139+2T>G (n.3139+2T>G)
c.*2853+2T>G (n.*2853+2T>G)
c.2956+2T>G (n.2956+2T>G)
c.*1439+2T>G (n.*1439+2T>G)
c.*2963+2T>G (n.*2963+2T>G)
c.2713+2T>G (n.2713+2T>G)
c.730+2T>G (n.730+2T>G)
c.789+2T>G
c.1921+2T>G (n.1921+2T>G)
c.3049+2T>G (n.3049+2T>G)
c.3229+2T>G (n.3229+2T>G)
c.2896+2T>G (n.2896+2T>G)
7g.117610672A=CA1737385324CFTRc.3139+3A= (n.3139+3A=)
c.*2853+3A= (n.*2853+3A=)
c.2956+3A= (n.2956+3A=)
c.*1439+3A= (n.*1439+3A=)
c.*2963+3A= (n.*2963+3A=)
c.2713+3A= (n.2713+3A=)
c.730+3A= (n.730+3A=)
c.789+3A=
c.1921+3A= (n.1921+3A=)
c.3049+3A= (n.3049+3A=)
c.3229+3A= (n.3229+3A=)
c.2896+3A= (n.2896+3A=)
7g.117610672A>GCA164965463CFTRc.3139+3A>G (n.3139+3A>G)
c.*2853+3A>G (n.*2853+3A>G)
c.2956+3A>G (n.2956+3A>G)
c.*1439+3A>G (n.*1439+3A>G)
c.*2963+3A>G (n.*2963+3A>G)
c.2713+3A>G (n.2713+3A>G)
c.730+3A>G (n.730+3A>G)
c.789+3A>G
c.1921+3A>G (n.1921+3A>G)
c.3049+3A>G (n.3049+3A>G)
c.3229+3A>G (n.3229+3A>G)
c.2896+3A>G (n.2896+3A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117610673T>CCA2579000230CFTRc.3139+4T>C (n.3139+4T>C)
c.*2853+4T>C (n.*2853+4T>C)
c.2956+4T>C (n.2956+4T>C)
c.*1439+4T>C (n.*1439+4T>C)
c.*2963+4T>C (n.*2963+4T>C)
c.2713+4T>C (n.2713+4T>C)
c.730+4T>C (n.730+4T>C)
c.789+4T>C
c.1921+4T>C (n.1921+4T>C)
c.3049+4T>C (n.3049+4T>C)
c.3229+4T>C (n.3229+4T>C)
c.2896+4T>C (n.2896+4T>C)
 gnomAD v4
7g.117610674G>TCA2684588299CFTRc.3139+5G>T (n.3139+5G>T)
c.*2853+5G>T (n.*2853+5G>T)
c.2956+5G>T (n.2956+5G>T)
c.*1439+5G>T (n.*1439+5G>T)
c.*2963+5G>T (n.*2963+5G>T)
c.2713+5G>T (n.2713+5G>T)
c.730+5G>T (n.730+5G>T)
c.789+5G>T
c.1921+5G>T (n.1921+5G>T)
c.3049+5G>T (n.3049+5G>T)
c.3229+5G>T (n.3229+5G>T)
c.2896+5G>T (n.2896+5G>T)
 gnomAD v4
7g.117610676C>ACA164965471CFTRc.3139+7C>A (n.3139+7C>A)
c.*2853+7C>A (n.*2853+7C>A)
c.2956+7C>A (n.2956+7C>A)
c.*1439+7C>A (n.*1439+7C>A)
c.*2963+7C>A (n.*2963+7C>A)
c.2713+7C>A (n.2713+7C>A)
c.730+7C>A (n.730+7C>A)
c.789+7C>A
c.1921+7C>A (n.1921+7C>A)
c.3049+7C>A (n.3049+7C>A)
c.3229+7C>A (n.3229+7C>A)
c.2896+7C>A (n.2896+7C>A)
 dbSNP gnomAD v3 gnomAD v4
7g.117610676C=CA1737385333CFTRc.3139+7C= (n.3139+7C=)
c.*2853+7C= (n.*2853+7C=)
c.2956+7C= (n.2956+7C=)
c.*1439+7C= (n.*1439+7C=)
c.*2963+7C= (n.*2963+7C=)
c.2713+7C= (n.2713+7C=)
c.730+7C= (n.730+7C=)
c.789+7C=
c.1921+7C= (n.1921+7C=)
c.3049+7C= (n.3049+7C=)
c.3229+7C= (n.3229+7C=)
c.2896+7C= (n.2896+7C=)
7g.117610677A=CA1737385338CFTRc.3139+8A= (n.3139+8A=)
c.*2853+8A= (n.*2853+8A=)
c.2956+8A= (n.2956+8A=)
c.*1439+8A= (n.*1439+8A=)
c.*2963+8A= (n.*2963+8A=)
c.2713+8A= (n.2713+8A=)
c.730+8A= (n.730+8A=)
c.789+8A=
c.1921+8A= (n.1921+8A=)
c.3049+8A= (n.3049+8A=)
c.3229+8A= (n.3229+8A=)
c.2896+8A= (n.2896+8A=)
7g.117610677A>GCA260234CFTRc.3139+8A>G (n.3139+8A>G)
c.*2853+8A>G (n.*2853+8A>G)
c.2956+8A>G (n.2956+8A>G)
c.*1439+8A>G (n.*1439+8A>G)
c.*2963+8A>G (n.*2963+8A>G)
c.2713+8A>G (n.2713+8A>G)
c.730+8A>G (n.730+8A>G)
c.789+8A>G
c.1921+8A>G (n.1921+8A>G)
c.3049+8A>G (n.3049+8A>G)
c.3229+8A>G (n.3229+8A>G)
c.2896+8A>G (n.2896+8A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117610677_117610678delinsAGCA1737385341CFTRc.3139+8_3139+9delinsAG (n.3139+8_3139+9delinsAG)
c.*2853+8_*2853+9delinsAG (n.*2853+8_*2853+9delinsAG)
c.2956+8_2956+9delinsAG (n.2956+8_2956+9delinsAG)
c.*1439+8_*1439+9delinsAG (n.*1439+8_*1439+9delinsAG)
c.*2963+8_*2963+9delinsAG (n.*2963+8_*2963+9delinsAG)
c.2713+8_2713+9delinsAG (n.2713+8_2713+9delinsAG)
c.730+8_730+9delinsAG (n.730+8_730+9delinsAG)
c.789+8_789+9delinsAG
c.1921+8_1921+9delinsAG (n.1921+8_1921+9delinsAG)
c.3049+8_3049+9delinsAG (n.3049+8_3049+9delinsAG)
c.3229+8_3229+9delinsAG (n.3229+8_3229+9delinsAG)
c.2896+8_2896+9delinsAG (n.2896+8_2896+9delinsAG)
7g.117610678delCA4451381CFTRc.3139+9del (n.3139+9del)
c.*2853+9del (n.*2853+9del)
c.2956+9del (n.2956+9del)
c.*1439+9del (n.*1439+9del)
c.*2963+9del (n.*2963+9del)
c.2713+9del (n.2713+9del)
c.730+9del (n.730+9del)
c.789+9del
c.1921+9del (n.1921+9del)
c.3049+9del (n.3049+9del)
c.3229+9del (n.3229+9del)
c.2896+9del (n.2896+9del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117610678G>TCA2573141587CFTRc.3139+9G>T (n.3139+9G>T)
c.*2853+9G>T (n.*2853+9G>T)
c.2956+9G>T (n.2956+9G>T)
c.*1439+9G>T (n.*1439+9G>T)
c.*2963+9G>T (n.*2963+9G>T)
c.2713+9G>T (n.2713+9G>T)
c.730+9G>T (n.730+9G>T)
c.789+9G>T
c.1921+9G>T (n.1921+9G>T)
c.3049+9G>T (n.3049+9G>T)
c.3229+9G>T (n.3229+9G>T)
c.2896+9G>T (n.2896+9G>T)
 ClinVar dbSNP
7g.117610679T>CCA2580076350CFTRc.3139+10T>C (n.3139+10T>C)
c.*2853+10T>C (n.*2853+10T>C)
c.2956+10T>C (n.2956+10T>C)
c.*1439+10T>C (n.*1439+10T>C)
c.*2963+10T>C (n.*2963+10T>C)
c.2713+10T>C (n.2713+10T>C)
c.730+10T>C (n.730+10T>C)
c.789+10T>C
c.1921+10T>C (n.1921+10T>C)
c.3049+10T>C (n.3049+10T>C)
c.3229+10T>C (n.3229+10T>C)
c.2896+10T>C (n.2896+10T>C)
 ClinVar
7g.117610680G>CCA4451382CFTRc.3139+11G>C (n.3139+11G>C)
c.*2853+11G>C (n.*2853+11G>C)
c.2956+11G>C (n.2956+11G>C)
c.*1439+11G>C (n.*1439+11G>C)
c.*2963+11G>C (n.*2963+11G>C)
c.2713+11G>C (n.2713+11G>C)
c.730+11G>C (n.730+11G>C)
c.789+11G>C
c.1921+11G>C (n.1921+11G>C)
c.3049+11G>C (n.3049+11G>C)
c.3229+11G>C (n.3229+11G>C)
c.2896+11G>C (n.2896+11G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117610680G=CA1737385350CFTRc.3139+11G= (n.3139+11G=)
c.*2853+11G= (n.*2853+11G=)
c.2956+11G= (n.2956+11G=)
c.*1439+11G= (n.*1439+11G=)
c.*2963+11G= (n.*2963+11G=)
c.2713+11G= (n.2713+11G=)
c.730+11G= (n.730+11G=)
c.789+11G=
c.1921+11G= (n.1921+11G=)
c.3049+11G= (n.3049+11G=)
c.3229+11G= (n.3229+11G=)
c.2896+11G= (n.2896+11G=)
7g.117610681A=CA1737385361CFTRc.3139+12A= (n.3139+12A=)
c.*2853+12A= (n.*2853+12A=)
c.2956+12A= (n.2956+12A=)
c.*1439+12A= (n.*1439+12A=)
c.*2963+12A= (n.*2963+12A=)
c.2713+12A= (n.2713+12A=)
c.730+12A= (n.730+12A=)
c.789+12A=
c.1921+12A= (n.1921+12A=)
c.3049+12A= (n.3049+12A=)
c.3229+12A= (n.3229+12A=)
c.2896+12A= (n.2896+12A=)
7g.117610681A>CCA1106311502CFTRc.3139+12A>C (n.3139+12A>C)
c.*2853+12A>C (n.*2853+12A>C)
c.2956+12A>C (n.2956+12A>C)
c.*1439+12A>C (n.*1439+12A>C)
c.*2963+12A>C (n.*2963+12A>C)
c.2713+12A>C (n.2713+12A>C)
c.730+12A>C (n.730+12A>C)
c.789+12A>C
c.1921+12A>C (n.1921+12A>C)
c.3049+12A>C (n.3049+12A>C)
c.3229+12A>C (n.3229+12A>C)
c.2896+12A>C (n.2896+12A>C)
 dbSNP gnomAD v3 gnomAD v4
7g.117610681A>GCA577680837CFTRc.3139+12A>G (n.3139+12A>G)
c.*2853+12A>G (n.*2853+12A>G)
c.2956+12A>G (n.2956+12A>G)
c.*1439+12A>G (n.*1439+12A>G)
c.*2963+12A>G (n.*2963+12A>G)
c.2713+12A>G (n.2713+12A>G)
c.730+12A>G (n.730+12A>G)
c.789+12A>G
c.1921+12A>G (n.1921+12A>G)
c.3049+12A>G (n.3049+12A>G)
c.3229+12A>G (n.3229+12A>G)
c.2896+12A>G (n.2896+12A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117610683T>CCA2684588300CFTRc.3139+14T>C (n.3139+14T>C)
c.*2853+14T>C (n.*2853+14T>C)
c.2956+14T>C (n.2956+14T>C)
c.*1439+14T>C (n.*1439+14T>C)
c.*2963+14T>C (n.*2963+14T>C)
c.2713+14T>C (n.2713+14T>C)
c.730+14T>C (n.730+14T>C)
c.789+14T>C
c.1921+14T>C (n.1921+14T>C)
c.3049+14T>C (n.3049+14T>C)
c.3229+14T>C (n.3229+14T>C)
c.2896+14T>C (n.2896+14T>C)
 gnomAD v4

Number of alleles fetched