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.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.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.117611582_117614714delCA913189834CFTRc.3141_3468+1del
c.*2855_*3182+1del
c.2958_3285+1del
c.*1441_*1843+1del
c.3141_3462+1del
c.*2965_*3292+1del
c.2715_3042+1del
c.732_1059+1del
c.791_1118+1del
c.1923_2250+1del
c.3051_3378+1del
c.3231_3558+1del
c.2898_3225+1del
 ClinVar
7g.117611721_117612076delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCCCA1737387315CFTRc.3280_3367+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.*2994_*3081+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.3097_3184+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.*1580_*1667+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.*3104_*3191+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.2854_2941+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.28_115+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.871_958+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.930_1017+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.2062_2149+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.3190_3277+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.105_192+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.3370_3457+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
c.3037_3124+268delinsTCAACACTGCGCTGGTTCCAAATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTAACAACAGGTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGTAAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTAATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGATATATATATATATATGTATATATATATATATATATATATATATATACATATATATATATAGTATTATCC
7g.117611722_117612076delinsTGTTAACA327125CFTRc.3281_3367+268delinsTGTTAA
c.*2995_*3081+268delinsTGTTAA
c.3098_3184+268delinsTGTTAA
c.*1581_*1667+268delinsTGTTAA
c.*3105_*3191+268delinsTGTTAA
c.2855_2941+268delinsTGTTAA
c.29_115+268delinsTGTTAA
c.872_958+268delinsTGTTAA
c.931_1017+268delinsTGTTAA
c.2063_2149+268delinsTGTTAA
c.3191_3277+268delinsTGTTAA
c.106_192+268delinsTGTTAA
c.3371_3457+268delinsTGTTAA
c.3038_3124+268delinsTGTTAA
 ClinVar dbSNP
7g.117611744_117611745delinsAGCA2580076386CFTRc.3303_3304delinsAG (p.Met1101_Arg1102delinsIleGly)
c.*3017_*3018delinsAG (n.*3017_*3018delinsAG)
c.3120_3121delinsAG (p.Met1040_Arg1041delinsIleGly)
c.*1603_*1604delinsAG (n.*1603_*1604delinsAG)
c.*3127_*3128delinsAG (n.*3127_*3128delinsAG)
c.2877_2878delinsAG (p.Met959_Arg960delinsIleGly)
c.51_52delinsAG (p.Met17_Arg18delinsIleGly)
c.894_895delinsAG (p.Met298_Arg299delinsIleGly)
c.953_954delinsAG
c.2085_2086delinsAG (p.Met695_Arg696delinsIleGly)
c.3213_3214delinsAG (p.Met1071_Arg1072delinsIleGly)
c.128_129delinsAG
c.3393_3394delinsAG (p.Met1131_Arg1132delinsIleGly)
c.3060_3061delinsAG (p.Met1020_Arg1021delinsIleGly)
 ClinVar
7g.117611745A=CA1737387470CFTRc.3304A= (p.Arg1102=)
c.*3018A= (n.*3018A=)
c.3121A= (p.Arg1041=)
c.*1604A= (n.*1604A=)
c.*3128A= (n.*3128A=)
c.2878A= (p.Arg960=)
c.52A= (p.Arg18=)
c.895A= (p.Arg299=)
c.954A=
c.2086A= (p.Arg696=)
c.3214A= (p.Arg1072=)
c.129A=
c.3394A= (p.Arg1132=)
c.3061A= (p.Arg1021=)
7g.117611745A>CCA457230072CFTRc.3304A>C (p.Arg1102=)
c.*3018A>C (n.*3018A>C)
c.3121A>C (p.Arg1041=)
c.*1604A>C (n.*1604A>C)
c.*3128A>C (n.*3128A>C)
c.2878A>C (p.Arg960=)
c.52A>C (p.Arg18=)
c.895A>C (p.Arg299=)
c.954A>C
c.2086A>C (p.Arg696=)
c.3214A>C (p.Arg1072=)
c.129A>C
c.3394A>C (p.Arg1132=)
c.3061A>C (p.Arg1021=)
7g.117611745A>GCA368992457CFTRc.3304A>G (p.Arg1102Gly)
c.*3018A>G (n.*3018A>G)
c.3121A>G (p.Arg1041Gly)
c.*1604A>G (n.*1604A>G)
c.*3128A>G (n.*3128A>G)
c.2878A>G (p.Arg960Gly)
c.52A>G (p.Arg18Gly)
c.895A>G (p.Arg299Gly)
c.954A>G
c.2086A>G (p.Arg696Gly)
c.3214A>G (p.Arg1072Gly)
c.129A>G
c.3394A>G (p.Arg1132Gly)
c.3061A>G (p.Arg1021Gly)
7g.117611745A>TCA327138CFTRc.3304A>T (p.Arg1102Ter)
c.*3018A>T (n.*3018A>T)
c.3121A>T (p.Arg1041Ter)
c.*1604A>T (n.*1604A>T)
c.*3128A>T (n.*3128A>T)
c.2878A>T (p.Arg960Ter)
c.52A>T (p.Arg18Ter)
c.895A>T (p.Arg299Ter)
c.954A>T
c.2086A>T (p.Arg696Ter)
c.3214A>T (p.Arg1072Ter)
c.129A>T
c.3394A>T (p.Arg1132Ter)
c.3061A>T (p.Arg1021Ter)
 ClinVar dbSNP
7g.117611746G>ACA164966739CFTRc.3305G>A (p.Arg1102Lys)
c.*3019G>A (n.*3019G>A)
c.3122G>A (p.Arg1041Lys)
c.*1605G>A (n.*1605G>A)
c.*3129G>A (n.*3129G>A)
c.2879G>A (p.Arg960Lys)
c.53G>A (p.Arg18Lys)
c.896G>A (p.Arg299Lys)
c.955G>A
c.2087G>A (p.Arg696Lys)
c.3215G>A (p.Arg1072Lys)
c.130G>A
c.3395G>A (p.Arg1132Lys)
c.3062G>A (p.Arg1021Lys)
 dbSNP gnomAD v2 gnomAD v4
7g.117611746G>CCA368992460CFTRc.3305G>C (p.Arg1102Thr)
c.*3019G>C (n.*3019G>C)
c.3122G>C (p.Arg1041Thr)
c.*1605G>C (n.*1605G>C)
c.*3129G>C (n.*3129G>C)
c.2879G>C (p.Arg960Thr)
c.53G>C (p.Arg18Thr)
c.896G>C (p.Arg299Thr)
c.955G>C
c.2087G>C (p.Arg696Thr)
c.3215G>C (p.Arg1072Thr)
c.130G>C
c.3395G>C (p.Arg1132Thr)
c.3062G>C (p.Arg1021Thr)
7g.117611746G=CA1737387478CFTRc.3305G= (p.Arg1102=)
c.*3019G= (n.*3019G=)
c.3122G= (p.Arg1041=)
c.*1605G= (n.*1605G=)
c.*3129G= (n.*3129G=)
c.2879G= (p.Arg960=)
c.53G= (p.Arg18=)
c.896G= (p.Arg299=)
c.955G=
c.2087G= (p.Arg696=)
c.3215G= (p.Arg1072=)
c.130G=
c.3395G= (p.Arg1132=)
c.3062G= (p.Arg1021=)
7g.117611746G>TCA368992462CFTRc.3305G>T (p.Arg1102Ile)
c.*3019G>T (n.*3019G>T)
c.3122G>T (p.Arg1041Ile)
c.*1605G>T (n.*1605G>T)
c.*3129G>T (n.*3129G>T)
c.2879G>T (p.Arg960Ile)
c.53G>T (p.Arg18Ile)
c.896G>T (p.Arg299Ile)
c.955G>T
c.2087G>T (p.Arg696Ile)
c.3215G>T (p.Arg1072Ile)
c.130G>T
c.3395G>T (p.Arg1132Ile)
c.3062G>T (p.Arg1021Ile)
7g.117611747A=CA1737387487CFTRc.3306A= (p.Arg1102=)
c.*3020A= (n.*3020A=)
c.3123A= (p.Arg1041=)
c.*1606A= (n.*1606A=)
c.*3130A= (n.*3130A=)
c.2880A= (p.Arg960=)
c.54A= (p.Arg18=)
c.897A= (p.Arg299=)
c.956A=
c.2088A= (p.Arg696=)
c.3216A= (p.Arg1072=)
c.131A=
c.3396A= (p.Arg1132=)
c.3063A= (p.Arg1021=)
7g.117611747A>CCA368992464CFTRc.3306A>C (p.Arg1102Ser)
c.*3020A>C (n.*3020A>C)
c.3123A>C (p.Arg1041Ser)
c.*1606A>C (n.*1606A>C)
c.*3130A>C (n.*3130A>C)
c.2880A>C (p.Arg960Ser)
c.54A>C (p.Arg18Ser)
c.897A>C (p.Arg299Ser)
c.956A>C
c.2088A>C (p.Arg696Ser)
c.3216A>C (p.Arg1072Ser)
c.131A>C
c.3396A>C (p.Arg1132Ser)
c.3063A>C (p.Arg1021Ser)
 ClinVar
7g.117611747A>GCA4451422CFTRc.3306A>G (p.Arg1102=)
c.*3020A>G (n.*3020A>G)
c.3123A>G (p.Arg1041=)
c.*1606A>G (n.*1606A>G)
c.*3130A>G (n.*3130A>G)
c.2880A>G (p.Arg960=)
c.54A>G (p.Arg18=)
c.897A>G (p.Arg299=)
c.956A>G
c.2088A>G (p.Arg696=)
c.3216A>G (p.Arg1072=)
c.131A>G
c.3396A>G (p.Arg1132=)
c.3063A>G (p.Arg1021=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611747A>TCA368992465CFTRc.3306A>T (p.Arg1102Ser)
c.*3020A>T (n.*3020A>T)
c.3123A>T (p.Arg1041Ser)
c.*1606A>T (n.*1606A>T)
c.*3130A>T (n.*3130A>T)
c.2880A>T (p.Arg960Ser)
c.54A>T (p.Arg18Ser)
c.897A>T (p.Arg299Ser)
c.956A>T
c.2088A>T (p.Arg696Ser)
c.3216A>T (p.Arg1072Ser)
c.131A>T
c.3396A>T (p.Arg1132Ser)
c.3063A>T (p.Arg1021Ser)
7g.117611748delCA2695208438CFTRc.3307del (p.Ile1103Ter)
c.*3021del (n.*3021del)
c.3124del (p.Ile1042Ter)
c.*1607del (n.*1607del)
c.*3131del (n.*3131del)
c.2881del (p.Ile961Ter)
c.55del (p.Ile19Ter)
c.898del (p.Ile300Ter)
c.957del
c.2089del (p.Ile697Ter)
c.3217del (p.Ile1073Ter)
c.132del
c.3397del (p.Ile1133Ter)
c.3064del (p.Ile1022Ter)
7g.117611748A>CCA368992467CFTRc.3307A>C (p.Ile1103Leu)
c.*3021A>C (n.*3021A>C)
c.3124A>C (p.Ile1042Leu)
c.*1607A>C (n.*1607A>C)
c.*3131A>C (n.*3131A>C)
c.2881A>C (p.Ile961Leu)
c.55A>C (p.Ile19Leu)
c.898A>C (p.Ile300Leu)
c.957A>C
c.2089A>C (p.Ile697Leu)
c.3217A>C (p.Ile1073Leu)
c.132A>C
c.3397A>C (p.Ile1133Leu)
c.3064A>C (p.Ile1022Leu)
7g.117611748A>GCA368992469CFTRc.3307A>G (p.Ile1103Val)
c.*3021A>G (n.*3021A>G)
c.3124A>G (p.Ile1042Val)
c.*1607A>G (n.*1607A>G)
c.*3131A>G (n.*3131A>G)
c.2881A>G (p.Ile961Val)
c.55A>G (p.Ile19Val)
c.898A>G (p.Ile300Val)
c.957A>G
c.2089A>G (p.Ile697Val)
c.3217A>G (p.Ile1073Val)
c.132A>G
c.3397A>G (p.Ile1133Val)
c.3064A>G (p.Ile1022Val)
 gnomAD v4
7g.117611748A>TCA368992470CFTRc.3307A>T (p.Ile1103Leu)
c.*3021A>T (n.*3021A>T)
c.3124A>T (p.Ile1042Leu)
c.*1607A>T (n.*1607A>T)
c.*3131A>T (n.*3131A>T)
c.2881A>T (p.Ile961Leu)
c.55A>T (p.Ile19Leu)
c.898A>T (p.Ile300Leu)
c.957A>T
c.2089A>T (p.Ile697Leu)
c.3217A>T (p.Ile1073Leu)
c.132A>T
c.3397A>T (p.Ile1133Leu)
c.3064A>T (p.Ile1022Leu)
7g.117611749T>ACA368992473CFTRc.3308T>A (p.Ile1103Lys)
c.*3022T>A (n.*3022T>A)
c.3125T>A (p.Ile1042Lys)
c.*1608T>A (n.*1608T>A)
c.*3132T>A (n.*3132T>A)
c.2882T>A (p.Ile961Lys)
c.56T>A (p.Ile19Lys)
c.899T>A (p.Ile300Lys)
c.958T>A
c.2090T>A (p.Ile697Lys)
c.3218T>A (p.Ile1073Lys)
c.133T>A
c.3398T>A (p.Ile1133Lys)
c.3065T>A (p.Ile1022Lys)
7g.117611749T>CCA368992474CFTRc.3308T>C (p.Ile1103Thr)
c.*3022T>C (n.*3022T>C)
c.3125T>C (p.Ile1042Thr)
c.*1608T>C (n.*1608T>C)
c.*3132T>C (n.*3132T>C)
c.2882T>C (p.Ile961Thr)
c.56T>C (p.Ile19Thr)
c.899T>C (p.Ile300Thr)
c.958T>C
c.2090T>C (p.Ile697Thr)
c.3218T>C (p.Ile1073Thr)
c.133T>C
c.3398T>C (p.Ile1133Thr)
c.3065T>C (p.Ile1022Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117611749T>GCA368992476CFTRc.3308T>G (p.Ile1103Arg)
c.*3022T>G (n.*3022T>G)
c.3125T>G (p.Ile1042Arg)
c.*1608T>G (n.*1608T>G)
c.*3132T>G (n.*3132T>G)
c.2882T>G (p.Ile961Arg)
c.56T>G (p.Ile19Arg)
c.899T>G (p.Ile300Arg)
c.958T>G
c.2090T>G (p.Ile697Arg)
c.3218T>G (p.Ile1073Arg)
c.133T>G
c.3398T>G (p.Ile1133Arg)
c.3065T>G (p.Ile1022Arg)
 ClinVar
7g.117611749T=CA1737387495CFTRc.3308T= (p.Ile1103=)
c.*3022T= (n.*3022T=)
c.3125T= (p.Ile1042=)
c.*1608T= (n.*1608T=)
c.*3132T= (n.*3132T=)
c.2882T= (p.Ile961=)
c.56T= (p.Ile19=)
c.899T= (p.Ile300=)
c.958T=
c.2090T= (p.Ile697=)
c.3218T= (p.Ile1073=)
c.133T=
c.3398T= (p.Ile1133=)
c.3065T= (p.Ile1022=)
7g.117611750A=CA1737387504CFTRc.3309A= (p.Ile1103=)
c.*3023A= (n.*3023A=)
c.3126A= (p.Ile1042=)
c.*1609A= (n.*1609A=)
c.*3133A= (n.*3133A=)
c.2883A= (p.Ile961=)
c.57A= (p.Ile19=)
c.900A= (p.Ile300=)
c.959A=
c.2091A= (p.Ile697=)
c.3219A= (p.Ile1073=)
c.134A=
c.3399A= (p.Ile1133=)
c.3066A= (p.Ile1022=)
7g.117611750A>CCA457230073CFTRc.3309A>C (p.Ile1103=)
c.*3023A>C (n.*3023A>C)
c.3126A>C (p.Ile1042=)
c.*1609A>C (n.*1609A>C)
c.*3133A>C (n.*3133A>C)
c.2883A>C (p.Ile961=)
c.57A>C (p.Ile19=)
c.900A>C (p.Ile300=)
c.959A>C
c.2091A>C (p.Ile697=)
c.3219A>C (p.Ile1073=)
c.134A>C
c.3399A>C (p.Ile1133=)
c.3066A>C (p.Ile1022=)
7g.117611750A>GCA368992478CFTRc.3309A>G (p.Ile1103Met)
c.*3023A>G (n.*3023A>G)
c.3126A>G (p.Ile1042Met)
c.*1609A>G (n.*1609A>G)
c.*3133A>G (n.*3133A>G)
c.2883A>G (p.Ile961Met)
c.57A>G (p.Ile19Met)
c.900A>G (p.Ile300Met)
c.959A>G
c.2091A>G (p.Ile697Met)
c.3219A>G (p.Ile1073Met)
c.134A>G
c.3399A>G (p.Ile1133Met)
c.3066A>G (p.Ile1022Met)
 dbSNP gnomAD v3 gnomAD v4
7g.117611750A>TCA457230074CFTRc.3309A>T (p.Ile1103=)
c.*3023A>T (n.*3023A>T)
c.3126A>T (p.Ile1042=)
c.*1609A>T (n.*1609A>T)
c.*3133A>T (n.*3133A>T)
c.2883A>T (p.Ile961=)
c.57A>T (p.Ile19=)
c.900A>T (p.Ile300=)
c.959A>T
c.2091A>T (p.Ile697=)
c.3219A>T (p.Ile1073=)
c.134A>T
c.3399A>T (p.Ile1133=)
c.3066A>T (p.Ile1022=)
7g.117611751G>ACA368992480CFTRc.3310G>A (p.Glu1104Lys)
c.*3024G>A (n.*3024G>A)
c.3127G>A (p.Glu1043Lys)
c.*1610G>A (n.*1610G>A)
c.*3134G>A (n.*3134G>A)
c.2884G>A (p.Glu962Lys)
c.58G>A (p.Glu20Lys)
c.901G>A (p.Glu301Lys)
c.960G>A
c.2092G>A (p.Glu698Lys)
c.3220G>A (p.Glu1074Lys)
c.135G>A
c.3400G>A (p.Glu1134Lys)
c.3067G>A (p.Glu1023Lys)
7g.117611751G>CCA368992483CFTRc.3310G>C (p.Glu1104Gln)
c.*3024G>C (n.*3024G>C)
c.3127G>C (p.Glu1043Gln)
c.*1610G>C (n.*1610G>C)
c.*3134G>C (n.*3134G>C)
c.2884G>C (p.Glu962Gln)
c.58G>C (p.Glu20Gln)
c.901G>C (p.Glu301Gln)
c.960G>C
c.2092G>C (p.Glu698Gln)
c.3220G>C (p.Glu1074Gln)
c.135G>C
c.3400G>C (p.Glu1134Gln)
c.3067G>C (p.Glu1023Gln)
7g.117611751G=CA1737387511CFTRc.3310G= (p.Glu1104=)
c.*3024G= (n.*3024G=)
c.3127G= (p.Glu1043=)
c.*1610G= (n.*1610G=)
c.*3134G= (n.*3134G=)
c.2884G= (p.Glu962=)
c.58G= (p.Glu20=)
c.901G= (p.Glu301=)
c.960G=
c.2092G= (p.Glu698=)
c.3220G= (p.Glu1074=)
c.135G=
c.3400G= (p.Glu1134=)
c.3067G= (p.Glu1023=)
7g.117611751G>TCA328113CFTRc.3310G>T (p.Glu1104Ter)
c.*3024G>T (n.*3024G>T)
c.3127G>T (p.Glu1043Ter)
c.*1610G>T (n.*1610G>T)
c.*3134G>T (n.*3134G>T)
c.2884G>T (p.Glu962Ter)
c.58G>T (p.Glu20Ter)
c.901G>T (p.Glu301Ter)
c.960G>T
c.2092G>T (p.Glu698Ter)
c.3220G>T (p.Glu1074Ter)
c.135G>T
c.3400G>T (p.Glu1134Ter)
c.3067G>T (p.Glu1023Ter)
 ClinVar dbSNP COSMIC
7g.117611752A>CCA368992484CFTRc.3311A>C (p.Glu1104Ala)
c.*3025A>C (n.*3025A>C)
c.3128A>C (p.Glu1043Ala)
c.*1611A>C (n.*1611A>C)
c.*3135A>C (n.*3135A>C)
c.2885A>C (p.Glu962Ala)
c.59A>C (p.Glu20Ala)
c.902A>C (p.Glu301Ala)
c.961A>C
c.2093A>C (p.Glu698Ala)
c.3221A>C (p.Glu1074Ala)
c.136A>C
c.3401A>C (p.Glu1134Ala)
c.3068A>C (p.Glu1023Ala)
7g.117611752A>GCA368992486CFTRc.3311A>G (p.Glu1104Gly)
c.*3025A>G (n.*3025A>G)
c.3128A>G (p.Glu1043Gly)
c.*1611A>G (n.*1611A>G)
c.*3135A>G (n.*3135A>G)
c.2885A>G (p.Glu962Gly)
c.59A>G (p.Glu20Gly)
c.902A>G (p.Glu301Gly)
c.961A>G
c.2093A>G (p.Glu698Gly)
c.3221A>G (p.Glu1074Gly)
c.136A>G
c.3401A>G (p.Glu1134Gly)
c.3068A>G (p.Glu1023Gly)
7g.117611752A>TCA368992488CFTRc.3311A>T (p.Glu1104Val)
c.*3025A>T (n.*3025A>T)
c.3128A>T (p.Glu1043Val)
c.*1611A>T (n.*1611A>T)
c.*3135A>T (n.*3135A>T)
c.2885A>T (p.Glu962Val)
c.59A>T (p.Glu20Val)
c.902A>T (p.Glu301Val)
c.961A>T
c.2093A>T (p.Glu698Val)
c.3221A>T (p.Glu1074Val)
c.136A>T
c.3401A>T (p.Glu1134Val)
c.3068A>T (p.Glu1023Val)
7g.117611754delCA2684588444CFTRc.3313del (p.Met1105Ter)
c.*3027del (n.*3027del)
c.3130del (p.Met1044Ter)
c.*1613del (n.*1613del)
c.*3137del (n.*3137del)
c.2887del (p.Met963Ter)
c.61del (p.Met21Ter)
c.904del (p.Met302Ter)
c.963del
c.2095del (p.Met699Ter)
c.3223del (p.Met1075Ter)
c.138del
c.3403del (p.Met1135Ter)
c.3070del (p.Met1024Ter)
 gnomAD v4
7g.117611753A>CCA368992490CFTRc.3312A>C (p.Glu1104Asp)
c.*3026A>C (n.*3026A>C)
c.3129A>C (p.Glu1043Asp)
c.*1612A>C (n.*1612A>C)
c.*3136A>C (n.*3136A>C)
c.2886A>C (p.Glu962Asp)
c.60A>C (p.Glu20Asp)
c.903A>C (p.Glu301Asp)
c.962A>C
c.2094A>C (p.Glu698Asp)
c.3222A>C (p.Glu1074Asp)
c.137A>C
c.3402A>C (p.Glu1134Asp)
c.3069A>C (p.Glu1023Asp)
7g.117611753A>GCA457230075CFTRc.3312A>G (p.Glu1104=)
c.*3026A>G (n.*3026A>G)
c.3129A>G (p.Glu1043=)
c.*1612A>G (n.*1612A>G)
c.*3136A>G (n.*3136A>G)
c.2886A>G (p.Glu962=)
c.60A>G (p.Glu20=)
c.903A>G (p.Glu301=)
c.962A>G
c.2094A>G (p.Glu698=)
c.3222A>G (p.Glu1074=)
c.137A>G
c.3402A>G (p.Glu1134=)
c.3069A>G (p.Glu1023=)
7g.117611753A>TCA368992492CFTRc.3312A>T (p.Glu1104Asp)
c.*3026A>T (n.*3026A>T)
c.3129A>T (p.Glu1043Asp)
c.*1612A>T (n.*1612A>T)
c.*3136A>T (n.*3136A>T)
c.2886A>T (p.Glu962Asp)
c.60A>T (p.Glu20Asp)
c.903A>T (p.Glu301Asp)
c.962A>T
c.2094A>T (p.Glu698Asp)
c.3222A>T (p.Glu1074Asp)
c.137A>T
c.3402A>T (p.Glu1134Asp)
c.3069A>T (p.Glu1023Asp)
7g.117611754A=CA1737387519CFTRc.3313A= (p.Met1105=)
c.*3027A= (n.*3027A=)
c.3130A= (p.Met1044=)
c.*1613A= (n.*1613A=)
c.*3137A= (n.*3137A=)
c.2887A= (p.Met963=)
c.61A= (p.Met21=)
c.904A= (p.Met302=)
c.963A=
c.2095A= (p.Met699=)
c.3223A= (p.Met1075=)
c.138A=
c.3403A= (p.Met1135=)
c.3070A= (p.Met1024=)
7g.117611754A>CCA368992494CFTRc.3313A>C (p.Met1105Leu)
c.*3027A>C (n.*3027A>C)
c.3130A>C (p.Met1044Leu)
c.*1613A>C (n.*1613A>C)
c.*3137A>C (n.*3137A>C)
c.2887A>C (p.Met963Leu)
c.61A>C (p.Met21Leu)
c.904A>C (p.Met302Leu)
c.963A>C
c.2095A>C (p.Met699Leu)
c.3223A>C (p.Met1075Leu)
c.138A>C
c.3403A>C (p.Met1135Leu)
c.3070A>C (p.Met1024Leu)
7g.117611754A>GCA368992496CFTRc.3313A>G (p.Met1105Val)
c.*3027A>G (n.*3027A>G)
c.3130A>G (p.Met1044Val)
c.*1613A>G (n.*1613A>G)
c.*3137A>G (n.*3137A>G)
c.2887A>G (p.Met963Val)
c.61A>G (p.Met21Val)
c.904A>G (p.Met302Val)
c.963A>G
c.2095A>G (p.Met699Val)
c.3223A>G (p.Met1075Val)
c.138A>G
c.3403A>G (p.Met1135Val)
c.3070A>G (p.Met1024Val)
 gnomAD v4
7g.117611754A>TCA368992498CFTRc.3313A>T (p.Met1105Leu)
c.*3027A>T (n.*3027A>T)
c.3130A>T (p.Met1044Leu)
c.*1613A>T (n.*1613A>T)
c.*3137A>T (n.*3137A>T)
c.2887A>T (p.Met963Leu)
c.61A>T (p.Met21Leu)
c.904A>T (p.Met302Leu)
c.963A>T
c.2095A>T (p.Met699Leu)
c.3223A>T (p.Met1075Leu)
c.138A>T
c.3403A>T (p.Met1135Leu)
c.3070A>T (p.Met1024Leu)
7g.117611754_117611755insACATCA577680855CFTRc.3313_3314insACAT (p.Met1105AsnfsTer?)
c.*3027_*3028insACAT (n.*3027_*3028insACAT)
c.3130_3131insACAT (p.Met1044AsnfsTer?)
c.*1613_*1614insACAT (n.*1613_*1614insACAT)
c.*3137_*3138insACAT (n.*3137_*3138insACAT)
c.2887_2888insACAT (p.Met963AsnfsTer?)
c.61_62insACAT (p.Met21AsnfsTer?)
c.904_905insACAT (p.Met302AsnfsTer?)
c.963_964insACAT
c.2095_2096insACAT (p.Met699AsnfsTer?)
c.3223_3224insACAT (p.Met1075AsnfsTer?)
c.138_139insACAT
c.3403_3404insACAT (p.Met1135AsnfsTer?)
c.3070_3071insACAT (p.Met1024AsnfsTer?)
 dbSNP gnomAD v2
7g.117611755T>ACA368992500CFTRc.3314T>A (p.Met1105Lys)
c.*3028T>A (n.*3028T>A)
c.3131T>A (p.Met1044Lys)
c.*1614T>A (n.*1614T>A)
c.*3138T>A (n.*3138T>A)
c.2888T>A (p.Met963Lys)
c.62T>A (p.Met21Lys)
c.905T>A (p.Met302Lys)
c.964T>A
c.2096T>A (p.Met699Lys)
c.3224T>A (p.Met1075Lys)
c.139T>A
c.3404T>A (p.Met1135Lys)
c.3071T>A (p.Met1024Lys)
7g.117611755T>CCA368992502CFTRc.3314T>C (p.Met1105Thr)
c.*3028T>C (n.*3028T>C)
c.3131T>C (p.Met1044Thr)
c.*1614T>C (n.*1614T>C)
c.*3138T>C (n.*3138T>C)
c.2888T>C (p.Met963Thr)
c.62T>C (p.Met21Thr)
c.905T>C (p.Met302Thr)
c.964T>C
c.2096T>C (p.Met699Thr)
c.3224T>C (p.Met1075Thr)
c.139T>C
c.3404T>C (p.Met1135Thr)
c.3071T>C (p.Met1024Thr)
7g.117611755T>GCA327142CFTRc.3314T>G (p.Met1105Arg)
c.*3028T>G (n.*3028T>G)
c.3131T>G (p.Met1044Arg)
c.*1614T>G (n.*1614T>G)
c.*3138T>G (n.*3138T>G)
c.2888T>G (p.Met963Arg)
c.62T>G (p.Met21Arg)
c.905T>G (p.Met302Arg)
c.964T>G
c.2096T>G (p.Met699Arg)
c.3224T>G (p.Met1075Arg)
c.139T>G
c.3404T>G (p.Met1135Arg)
c.3071T>G (p.Met1024Arg)
 ClinVar dbSNP
7g.117611755T=CA1737387528CFTRc.3314T= (p.Met1105=)
c.*3028T= (n.*3028T=)
c.3131T= (p.Met1044=)
c.*1614T= (n.*1614T=)
c.*3138T= (n.*3138T=)
c.2888T= (p.Met963=)
c.62T= (p.Met21=)
c.905T= (p.Met302=)
c.964T=
c.2096T= (p.Met699=)
c.3224T= (p.Met1075=)
c.139T=
c.3404T= (p.Met1135=)
c.3071T= (p.Met1024=)
7g.117611755_117611756delinsTGCA1737387533CFTRc.3314_3315delinsTG (p.Met1105=)
c.*3028_*3029delinsTG (n.*3028_*3029delinsTG)
c.3131_3132delinsTG (p.Met1044=)
c.*1614_*1615delinsTG (n.*1614_*1615delinsTG)
c.*3138_*3139delinsTG (n.*3138_*3139delinsTG)
c.2888_2889delinsTG (p.Met963=)
c.62_63delinsTG (p.Met21=)
c.905_906delinsTG (p.Met302=)
c.964_965delinsTG
c.2096_2097delinsTG (p.Met699=)
c.3224_3225delinsTG (p.Met1075=)
c.139_140delinsTG
c.3404_3405delinsTG (p.Met1135=)
c.3071_3072delinsTG (p.Met1024=)
7g.117611756delCA327144CFTRc.3315del (p.Met1105IlefsTer16)
c.*3029del (n.*3029del)
c.3132del (p.Met1044IlefsTer16)
c.*1615del (n.*1615del)
c.*3139del (n.*3139del)
c.2889del (p.Met963IlefsTer16)
c.63del (p.Met21IlefsTer16)
c.906del (p.Met302IlefsTer16)
c.965del
c.2097del (p.Met699IlefsTer16)
c.3225del (p.Met1075IlefsTer16)
c.140del
c.3405del (p.Met1135IlefsTer16)
c.3072del (p.Met1024IlefsTer16)
 ClinVar dbSNP
7g.117611756G>ACA368992503CFTRc.3315G>A (p.Met1105Ile)
c.*3029G>A (n.*3029G>A)
c.3132G>A (p.Met1044Ile)
c.*1615G>A (n.*1615G>A)
c.*3139G>A (n.*3139G>A)
c.2889G>A (p.Met963Ile)
c.63G>A (p.Met21Ile)
c.906G>A (p.Met302Ile)
c.965G>A
c.2097G>A (p.Met699Ile)
c.3225G>A (p.Met1075Ile)
c.140G>A
c.3405G>A (p.Met1135Ile)
c.3072G>A (p.Met1024Ile)
 COSMIC
7g.117611756G>CCA368992505CFTRc.3315G>C (p.Met1105Ile)
c.*3029G>C (n.*3029G>C)
c.3132G>C (p.Met1044Ile)
c.*1615G>C (n.*1615G>C)
c.*3139G>C (n.*3139G>C)
c.2889G>C (p.Met963Ile)
c.63G>C (p.Met21Ile)
c.906G>C (p.Met302Ile)
c.965G>C
c.2097G>C (p.Met699Ile)
c.3225G>C (p.Met1075Ile)
c.140G>C
c.3405G>C (p.Met1135Ile)
c.3072G>C (p.Met1024Ile)
7g.117611756G=CA1737387551CFTRc.3315G= (p.Met1105=)
c.*3029G= (n.*3029G=)
c.3132G= (p.Met1044=)
c.*1615G= (n.*1615G=)
c.*3139G= (n.*3139G=)
c.2889G= (p.Met963=)
c.63G= (p.Met21=)
c.906G= (p.Met302=)
c.965G=
c.2097G= (p.Met699=)
c.3225G= (p.Met1075=)
c.140G=
c.3405G= (p.Met1135=)
c.3072G= (p.Met1024=)
7g.117611756G>TCA368992507CFTRc.3315G>T (p.Met1105Ile)
c.*3029G>T (n.*3029G>T)
c.3132G>T (p.Met1044Ile)
c.*1615G>T (n.*1615G>T)
c.*3139G>T (n.*3139G>T)
c.2889G>T (p.Met963Ile)
c.63G>T (p.Met21Ile)
c.906G>T (p.Met302Ile)
c.965G>T
c.2097G>T (p.Met699Ile)
c.3225G>T (p.Met1075Ile)
c.140G>T
c.3405G>T (p.Met1135Ile)
c.3072G>T (p.Met1024Ile)
 ClinVar dbSNP
7g.117611756_117611757insCAAATAACATAAACACAAAATGTACA577680856CFTRc.3315_3316insCAAATAACATAAACACAAAATGTA
c.*3029_*3030insCAAATAACATAAACACAAAATGTA (n.*3029_*3030insCAAATAACATAAACACAAAATGTA)
c.3132_3133insCAAATAACATAAACACAAAATGTA
c.*1615_*1616insCAAATAACATAAACACAAAATGTA (n.*1615_*1616insCAAATAACATAAACACAAAATGTA)
c.*3139_*3140insCAAATAACATAAACACAAAATGTA (n.*3139_*3140insCAAATAACATAAACACAAAATGTA)
c.2889_2890insCAAATAACATAAACACAAAATGTA
c.63_64insCAAATAACATAAACACAAAATGTA
c.906_907insCAAATAACATAAACACAAAATGTA
c.965_966insCAAATAACATAAACACAAAATGTA
c.2097_2098insCAAATAACATAAACACAAAATGTA
c.3225_3226insCAAATAACATAAACACAAAATGTA
c.140_141insCAAATAACATAAACACAAAATGTA
c.3405_3406insCAAATAACATAAACACAAAATGTA
c.3072_3073insCAAATAACATAAACACAAAATGTA
 dbSNP gnomAD v2
7g.117611757A>CCA368992509CFTRc.3316A>C (p.Ile1106Leu)
c.*3030A>C (n.*3030A>C)
c.3133A>C (p.Ile1045Leu)
c.*1616A>C (n.*1616A>C)
c.*3140A>C (n.*3140A>C)
c.2890A>C (p.Ile964Leu)
c.64A>C (p.Ile22Leu)
c.907A>C (p.Ile303Leu)
c.966A>C
c.2098A>C (p.Ile700Leu)
c.3226A>C (p.Ile1076Leu)
c.141A>C
c.3406A>C (p.Ile1136Leu)
c.3073A>C (p.Ile1025Leu)
7g.117611757A>GCA368992511CFTRc.3316A>G (p.Ile1106Val)
c.*3030A>G (n.*3030A>G)
c.3133A>G (p.Ile1045Val)
c.*1616A>G (n.*1616A>G)
c.*3140A>G (n.*3140A>G)
c.2890A>G (p.Ile964Val)
c.64A>G (p.Ile22Val)
c.907A>G (p.Ile303Val)
c.966A>G
c.2098A>G (p.Ile700Val)
c.3226A>G (p.Ile1076Val)
c.141A>G
c.3406A>G (p.Ile1136Val)
c.3073A>G (p.Ile1025Val)
7g.117611757A>TCA368992512CFTRc.3316A>T (p.Ile1106Phe)
c.*3030A>T (n.*3030A>T)
c.3133A>T (p.Ile1045Phe)
c.*1616A>T (n.*1616A>T)
c.*3140A>T (n.*3140A>T)
c.2890A>T (p.Ile964Phe)
c.64A>T (p.Ile22Phe)
c.907A>T (p.Ile303Phe)
c.966A>T
c.2098A>T (p.Ile700Phe)
c.3226A>T (p.Ile1076Phe)
c.141A>T
c.3406A>T (p.Ile1136Phe)
c.3073A>T (p.Ile1025Phe)
7g.117611758T>ACA368992514CFTRc.3317T>A (p.Ile1106Asn)
c.*3031T>A (n.*3031T>A)
c.3134T>A (p.Ile1045Asn)
c.*1617T>A (n.*1617T>A)
c.*3141T>A (n.*3141T>A)
c.2891T>A (p.Ile964Asn)
c.65T>A (p.Ile22Asn)
c.908T>A (p.Ile303Asn)
c.967T>A
c.2099T>A (p.Ile700Asn)
c.3227T>A (p.Ile1076Asn)
c.142T>A
c.3407T>A (p.Ile1136Asn)
c.3074T>A (p.Ile1025Asn)
7g.117611758T>CCA4451423CFTRc.3317T>C (p.Ile1106Thr)
c.*3031T>C (n.*3031T>C)
c.3134T>C (p.Ile1045Thr)
c.*1617T>C (n.*1617T>C)
c.*3141T>C (n.*3141T>C)
c.2891T>C (p.Ile964Thr)
c.65T>C (p.Ile22Thr)
c.908T>C (p.Ile303Thr)
c.967T>C
c.2099T>C (p.Ile700Thr)
c.3227T>C (p.Ile1076Thr)
c.142T>C
c.3407T>C (p.Ile1136Thr)
c.3074T>C (p.Ile1025Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117611758T>GCA368992517CFTRc.3317T>G (p.Ile1106Ser)
c.*3031T>G (n.*3031T>G)
c.3134T>G (p.Ile1045Ser)
c.*1617T>G (n.*1617T>G)
c.*3141T>G (n.*3141T>G)
c.2891T>G (p.Ile964Ser)
c.65T>G (p.Ile22Ser)
c.908T>G (p.Ile303Ser)
c.967T>G
c.2099T>G (p.Ile700Ser)
c.3227T>G (p.Ile1076Ser)
c.142T>G
c.3407T>G (p.Ile1136Ser)
c.3074T>G (p.Ile1025Ser)
 gnomAD v4
7g.117611758T=CA1737387565CFTRc.3317T= (p.Ile1106=)
c.*3031T= (n.*3031T=)
c.3134T= (p.Ile1045=)
c.*1617T= (n.*1617T=)
c.*3141T= (n.*3141T=)
c.2891T= (p.Ile964=)
c.65T= (p.Ile22=)
c.908T= (p.Ile303=)
c.967T=
c.2099T= (p.Ile700=)
c.3227T= (p.Ile1076=)
c.142T=
c.3407T= (p.Ile1136=)
c.3074T= (p.Ile1025=)
7g.117611759T>ACA457230076CFTRc.3318T>A (p.Ile1106=)
c.*3032T>A (n.*3032T>A)
c.3135T>A (p.Ile1045=)
c.*1618T>A (n.*1618T>A)
c.*3142T>A (n.*3142T>A)
c.2892T>A (p.Ile964=)
c.66T>A (p.Ile22=)
c.909T>A (p.Ile303=)
c.968T>A
c.2100T>A (p.Ile700=)
c.3228T>A (p.Ile1076=)
c.143T>A
c.3408T>A (p.Ile1136=)
c.3075T>A (p.Ile1025=)
 ClinVar dbSNP
7g.117611759T>CCA457230077CFTRc.3318T>C (p.Ile1106=)
c.*3032T>C (n.*3032T>C)
c.3135T>C (p.Ile1045=)
c.*1618T>C (n.*1618T>C)
c.*3142T>C (n.*3142T>C)
c.2892T>C (p.Ile964=)
c.66T>C (p.Ile22=)
c.909T>C (p.Ile303=)
c.968T>C
c.2100T>C (p.Ile700=)
c.3228T>C (p.Ile1076=)
c.143T>C
c.3408T>C (p.Ile1136=)
c.3075T>C (p.Ile1025=)
7g.117611759T>GCA368992519CFTRc.3318T>G (p.Ile1106Met)
c.*3032T>G (n.*3032T>G)
c.3135T>G (p.Ile1045Met)
c.*1618T>G (n.*1618T>G)
c.*3142T>G (n.*3142T>G)
c.2892T>G (p.Ile964Met)
c.66T>G (p.Ile22Met)
c.909T>G (p.Ile303Met)
c.968T>G
c.2100T>G (p.Ile700Met)
c.3228T>G (p.Ile1076Met)
c.143T>G
c.3408T>G (p.Ile1136Met)
c.3075T>G (p.Ile1025Met)
7g.117611760T>ACA368992522CFTRc.3319T>A (p.Phe1107Ile)
c.*3033T>A (n.*3033T>A)
c.3136T>A (p.Phe1046Ile)
c.*1619T>A (n.*1619T>A)
c.*3143T>A (n.*3143T>A)
c.2893T>A (p.Phe965Ile)
c.67T>A (p.Phe23Ile)
c.910T>A (p.Phe304Ile)
c.969T>A
c.2101T>A (p.Phe701Ile)
c.3229T>A (p.Phe1077Ile)
c.144T>A
c.3409T>A (p.Phe1137Ile)
c.3076T>A (p.Phe1026Ile)
7g.117611760T>CCA368992523CFTRc.3319T>C (p.Phe1107Leu)
c.*3033T>C (n.*3033T>C)
c.3136T>C (p.Phe1046Leu)
c.*1619T>C (n.*1619T>C)
c.*3143T>C (n.*3143T>C)
c.2893T>C (p.Phe965Leu)
c.67T>C (p.Phe23Leu)
c.910T>C (p.Phe304Leu)
c.969T>C
c.2101T>C (p.Phe701Leu)
c.3229T>C (p.Phe1077Leu)
c.144T>C
c.3409T>C (p.Phe1137Leu)
c.3076T>C (p.Phe1026Leu)
 ClinVar dbSNP
7g.117611760T>GCA368992525CFTRc.3319T>G (p.Phe1107Val)
c.*3033T>G (n.*3033T>G)
c.3136T>G (p.Phe1046Val)
c.*1619T>G (n.*1619T>G)
c.*3143T>G (n.*3143T>G)
c.2893T>G (p.Phe965Val)
c.67T>G (p.Phe23Val)
c.910T>G (p.Phe304Val)
c.969T>G
c.2101T>G (p.Phe701Val)
c.3229T>G (p.Phe1077Val)
c.144T>G
c.3409T>G (p.Phe1137Val)
c.3076T>G (p.Phe1026Val)
7g.117611760T=CA1737387569CFTRc.3319T= (p.Phe1107=)
c.*3033T= (n.*3033T=)
c.3136T= (p.Phe1046=)
c.*1619T= (n.*1619T=)
c.*3143T= (n.*3143T=)
c.2893T= (p.Phe965=)
c.67T= (p.Phe23=)
c.910T= (p.Phe304=)
c.969T=
c.2101T= (p.Phe701=)
c.3229T= (p.Phe1077=)
c.144T=
c.3409T= (p.Phe1137=)
c.3076T= (p.Phe1026=)
7g.117611761T>ACA368992527CFTRc.3320T>A (p.Phe1107Tyr)
c.*3034T>A (n.*3034T>A)
c.3137T>A (p.Phe1046Tyr)
c.*1620T>A (n.*1620T>A)
c.*3144T>A (n.*3144T>A)
c.2894T>A (p.Phe965Tyr)
c.68T>A (p.Phe23Tyr)
c.911T>A (p.Phe304Tyr)
c.970T>A
c.2102T>A (p.Phe701Tyr)
c.3230T>A (p.Phe1077Tyr)
c.145T>A
c.3410T>A (p.Phe1137Tyr)
c.3077T>A (p.Phe1026Tyr)
7g.117611761T>CCA368992529CFTRc.3320T>C (p.Phe1107Ser)
c.*3034T>C (n.*3034T>C)
c.3137T>C (p.Phe1046Ser)
c.*1620T>C (n.*1620T>C)
c.*3144T>C (n.*3144T>C)
c.2894T>C (p.Phe965Ser)
c.68T>C (p.Phe23Ser)
c.911T>C (p.Phe304Ser)
c.970T>C
c.2102T>C (p.Phe701Ser)
c.3230T>C (p.Phe1077Ser)
c.145T>C
c.3410T>C (p.Phe1137Ser)
c.3077T>C (p.Phe1026Ser)
7g.117611761T>GCA368992531CFTRc.3320T>G (p.Phe1107Cys)
c.*3034T>G (n.*3034T>G)
c.3137T>G (p.Phe1046Cys)
c.*1620T>G (n.*1620T>G)
c.*3144T>G (n.*3144T>G)
c.2894T>G (p.Phe965Cys)
c.68T>G (p.Phe23Cys)
c.911T>G (p.Phe304Cys)
c.970T>G
c.2102T>G (p.Phe701Cys)
c.3230T>G (p.Phe1077Cys)
c.145T>G
c.3410T>G (p.Phe1137Cys)
c.3077T>G (p.Phe1026Cys)
7g.117611762T>ACA368992532CFTRc.3321T>A (p.Phe1107Leu)
c.*3035T>A (n.*3035T>A)
c.3138T>A (p.Phe1046Leu)
c.*1621T>A (n.*1621T>A)
c.*3145T>A (n.*3145T>A)
c.2895T>A (p.Phe965Leu)
c.69T>A (p.Phe23Leu)
c.912T>A (p.Phe304Leu)
c.971T>A
c.2103T>A (p.Phe701Leu)
c.3231T>A (p.Phe1077Leu)
c.146T>A
c.3411T>A (p.Phe1137Leu)
c.3078T>A (p.Phe1026Leu)
7g.117611762T>CCA457230080CFTRc.3321T>C (p.Phe1107=)
c.*3035T>C (n.*3035T>C)
c.3138T>C (p.Phe1046=)
c.*1621T>C (n.*1621T>C)
c.*3145T>C (n.*3145T>C)
c.2895T>C (p.Phe965=)
c.69T>C (p.Phe23=)
c.912T>C (p.Phe304=)
c.971T>C
c.2103T>C (p.Phe701=)
c.3231T>C (p.Phe1077=)
c.146T>C
c.3411T>C (p.Phe1137=)
c.3078T>C (p.Phe1026=)
7g.117611762T>GCA368992534CFTRc.3321T>G (p.Phe1107Leu)
c.*3035T>G (n.*3035T>G)
c.3138T>G (p.Phe1046Leu)
c.*1621T>G (n.*1621T>G)
c.*3145T>G (n.*3145T>G)
c.2895T>G (p.Phe965Leu)
c.69T>G (p.Phe23Leu)
c.912T>G (p.Phe304Leu)
c.971T>G
c.2103T>G (p.Phe701Leu)
c.3231T>G (p.Phe1077Leu)
c.146T>G
c.3411T>G (p.Phe1137Leu)
c.3078T>G (p.Phe1026Leu)
7g.117611763_117611764delCA2580076387CFTRc.3322_3323del (p.Val1108HisfsTer?)
c.*3036_*3037del (n.*3036_*3037del)
c.3139_3140del (p.Val1047HisfsTer?)
c.*1622_*1623del (n.*1622_*1623del)
c.*3146_*3147del (n.*3146_*3147del)
c.2896_2897del (p.Val966HisfsTer?)
c.70_71del (p.Val24HisfsTer?)
c.913_914del (p.Val305HisfsTer?)
c.972_973del
c.2104_2105del (p.Val702HisfsTer?)
c.3232_3233del (p.Val1078HisfsTer?)
c.147_148del
c.3412_3413del (p.Val1138HisfsTer?)
c.3079_3080del (p.Val1027HisfsTer?)
 ClinVar
7g.117611763delCA2573141590CFTRc.3322del (p.Val1108SerfsTer13)
c.*3036del (n.*3036del)
c.3139del (p.Val1047SerfsTer13)
c.*1622del (n.*1622del)
c.*3146del (n.*3146del)
c.2896del (p.Val966SerfsTer13)
c.70del (p.Val24SerfsTer13)
c.913del (p.Val305SerfsTer13)
c.972del
c.2104del (p.Val702SerfsTer13)
c.3232del (p.Val1078SerfsTer13)
c.147del
c.3412del (p.Val1138SerfsTer13)
c.3079del (p.Val1027SerfsTer13)
 ClinVar dbSNP gnomAD v4
7g.117611763G>ACA368992536CFTRc.3322G>A (p.Val1108Ile)
c.*3036G>A (n.*3036G>A)
c.3139G>A (p.Val1047Ile)
c.*1622G>A (n.*1622G>A)
c.*3146G>A (n.*3146G>A)
c.2896G>A (p.Val966Ile)
c.70G>A (p.Val24Ile)
c.913G>A (p.Val305Ile)
c.972G>A
c.2104G>A (p.Val702Ile)
c.3232G>A (p.Val1078Ile)
c.147G>A
c.3412G>A (p.Val1138Ile)
c.3079G>A (p.Val1027Ile)
 ClinVar gnomAD v4
7g.117611763G>CCA327147CFTRc.3322G>C (p.Val1108Leu)
c.*3036G>C (n.*3036G>C)
c.3139G>C (p.Val1047Leu)
c.*1622G>C (n.*1622G>C)
c.*3146G>C (n.*3146G>C)
c.2896G>C (p.Val966Leu)
c.70G>C (p.Val24Leu)
c.913G>C (p.Val305Leu)
c.972G>C
c.2104G>C (p.Val702Leu)
c.3232G>C (p.Val1078Leu)
c.147G>C
c.3412G>C (p.Val1138Leu)
c.3079G>C (p.Val1027Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611763G=CA1737387577CFTRc.3322G= (p.Val1108=)
c.*3036G= (n.*3036G=)
c.3139G= (p.Val1047=)
c.*1622G= (n.*1622G=)
c.*3146G= (n.*3146G=)
c.2896G= (p.Val966=)
c.70G= (p.Val24=)
c.913G= (p.Val305=)
c.972G=
c.2104G= (p.Val702=)
c.3232G= (p.Val1078=)
c.147G=
c.3412G= (p.Val1138=)
c.3079G= (p.Val1027=)
7g.117611763G>TCA368992538CFTRc.3322G>T (p.Val1108Phe)
c.*3036G>T (n.*3036G>T)
c.3139G>T (p.Val1047Phe)
c.*1622G>T (n.*1622G>T)
c.*3146G>T (n.*3146G>T)
c.2896G>T (p.Val966Phe)
c.70G>T (p.Val24Phe)
c.913G>T (p.Val305Phe)
c.972G>T
c.2104G>T (p.Val702Phe)
c.3232G>T (p.Val1078Phe)
c.147G>T
c.3412G>T (p.Val1138Phe)
c.3079G>T (p.Val1027Phe)
7g.117611764T>ACA368992539CFTRc.3323T>A (p.Val1108Asp)
c.*3037T>A (n.*3037T>A)
c.3140T>A (p.Val1047Asp)
c.*1623T>A (n.*1623T>A)
c.*3147T>A (n.*3147T>A)
c.2897T>A (p.Val966Asp)
c.71T>A (p.Val24Asp)
c.914T>A (p.Val305Asp)
c.973T>A
c.2105T>A (p.Val702Asp)
c.3233T>A (p.Val1078Asp)
c.148T>A
c.3413T>A (p.Val1138Asp)
c.3080T>A (p.Val1027Asp)
7g.117611764T>CCA368992540CFTRc.3323T>C (p.Val1108Ala)
c.*3037T>C (n.*3037T>C)
c.3140T>C (p.Val1047Ala)
c.*1623T>C (n.*1623T>C)
c.*3147T>C (n.*3147T>C)
c.2897T>C (p.Val966Ala)
c.71T>C (p.Val24Ala)
c.914T>C (p.Val305Ala)
c.973T>C
c.2105T>C (p.Val702Ala)
c.3233T>C (p.Val1078Ala)
c.148T>C
c.3413T>C (p.Val1138Ala)
c.3080T>C (p.Val1027Ala)
7g.117611764T>GCA368992541CFTRc.3323T>G (p.Val1108Gly)
c.*3037T>G (n.*3037T>G)
c.3140T>G (p.Val1047Gly)
c.*1623T>G (n.*1623T>G)
c.*3147T>G (n.*3147T>G)
c.2897T>G (p.Val966Gly)
c.71T>G (p.Val24Gly)
c.914T>G (p.Val305Gly)
c.973T>G
c.2105T>G (p.Val702Gly)
c.3233T>G (p.Val1078Gly)
c.148T>G
c.3413T>G (p.Val1138Gly)
c.3080T>G (p.Val1027Gly)
7g.117611764_117611765delCA913111898CFTRc.3323_3324del (p.Val1108AspfsTer?)
c.*3037_*3038del (n.*3037_*3038del)
c.3140_3141del (p.Val1047AspfsTer?)
c.*1623_*1624del (n.*1623_*1624del)
c.*3147_*3148del (n.*3147_*3148del)
c.2897_2898del (p.Val966AspfsTer?)
c.71_72del (p.Val24AspfsTer?)
c.914_915del (p.Val305AspfsTer?)
c.973_974del
c.2105_2106del (p.Val702AspfsTer?)
c.3233_3234del (p.Val1078AspfsTer?)
c.148_149del
c.3413_3414del (p.Val1138AspfsTer?)
c.3080_3081del (p.Val1027AspfsTer?)
7g.117611764_117611765delinsTCCA1737387588CFTRc.3323_3324delinsTC (p.Val1108=)
c.*3037_*3038delinsTC (n.*3037_*3038delinsTC)
c.3140_3141delinsTC (p.Val1047=)
c.*1623_*1624delinsTC (n.*1623_*1624delinsTC)
c.*3147_*3148delinsTC (n.*3147_*3148delinsTC)
c.2897_2898delinsTC (p.Val966=)
c.71_72delinsTC (p.Val24=)
c.914_915delinsTC (p.Val305=)
c.973_974delinsTC
c.2105_2106delinsTC (p.Val702=)
c.3233_3234delinsTC (p.Val1078=)
c.148_149delinsTC
c.3413_3414delinsTC (p.Val1138=)
c.3080_3081delinsTC (p.Val1027=)
7g.117611765delCA658822508CFTRc.3324del (p.Ile1109SerfsTer12)
c.*3038del (n.*3038del)
c.3141del (p.Ile1048SerfsTer12)
c.*1624del (n.*1624del)
c.*3148del (n.*3148del)
c.2898del (p.Ile967SerfsTer12)
c.72del (p.Ile25SerfsTer12)
c.915del (p.Ile306SerfsTer12)
c.974del
c.2106del (p.Ile703SerfsTer12)
c.3234del (p.Ile1079SerfsTer12)
c.149del
c.3414del (p.Ile1139SerfsTer12)
c.3081del (p.Ile1028SerfsTer12)
 ClinVar dbSNP
7g.117611765C>ACA457230081CFTRc.3324C>A (p.Val1108=)
c.*3038C>A (n.*3038C>A)
c.3141C>A (p.Val1047=)
c.*1624C>A (n.*1624C>A)
c.*3148C>A (n.*3148C>A)
c.2898C>A (p.Val966=)
c.72C>A (p.Val24=)
c.915C>A (p.Val305=)
c.974C>A
c.2106C>A (p.Val702=)
c.3234C>A (p.Val1078=)
c.149C>A
c.3414C>A (p.Val1138=)
c.3081C>A (p.Val1027=)
 ClinVar dbSNP
7g.117611765C>GCA457230082CFTRc.3324C>G (p.Val1108=)
c.*3038C>G (n.*3038C>G)
c.3141C>G (p.Val1047=)
c.*1624C>G (n.*1624C>G)
c.*3148C>G (n.*3148C>G)
c.2898C>G (p.Val966=)
c.72C>G (p.Val24=)
c.915C>G (p.Val305=)
c.974C>G
c.2106C>G (p.Val702=)
c.3234C>G (p.Val1078=)
c.149C>G
c.3414C>G (p.Val1138=)
c.3081C>G (p.Val1027=)
7g.117611765C>TCA457230083CFTRc.3324C>T (p.Val1108=)
c.*3038C>T (n.*3038C>T)
c.3141C>T (p.Val1047=)
c.*1624C>T (n.*1624C>T)
c.*3148C>T (n.*3148C>T)
c.2898C>T (p.Val966=)
c.72C>T (p.Val24=)
c.915C>T (p.Val305=)
c.974C>T
c.2106C>T (p.Val702=)
c.3234C>T (p.Val1078=)
c.149C>T
c.3414C>T (p.Val1138=)
c.3081C>T (p.Val1027=)
 ClinVar dbSNP
7g.117611766A=CA1737387607CFTRc.3325A= (p.Ile1109=)
c.*3039A= (n.*3039A=)
c.3142A= (p.Ile1048=)
c.*1625A= (n.*1625A=)
c.*3149A= (n.*3149A=)
c.2899A= (p.Ile967=)
c.73A= (p.Ile25=)
c.916A= (p.Ile306=)
c.975A=
c.2107A= (p.Ile703=)
c.3235A= (p.Ile1079=)
c.150A=
c.3415A= (p.Ile1139=)
c.3082A= (p.Ile1028=)
7g.117611766A>CCA368992544CFTRc.3325A>C (p.Ile1109Leu)
c.*3039A>C (n.*3039A>C)
c.3142A>C (p.Ile1048Leu)
c.*1625A>C (n.*1625A>C)
c.*3149A>C (n.*3149A>C)
c.2899A>C (p.Ile967Leu)
c.73A>C (p.Ile25Leu)
c.916A>C (p.Ile306Leu)
c.975A>C
c.2107A>C (p.Ile703Leu)
c.3235A>C (p.Ile1079Leu)
c.150A>C
c.3415A>C (p.Ile1139Leu)
c.3082A>C (p.Ile1028Leu)
7g.117611766A>GCA4451424CFTRc.3325A>G (p.Ile1109Val)
c.*3039A>G (n.*3039A>G)
c.3142A>G (p.Ile1048Val)
c.*1625A>G (n.*1625A>G)
c.*3149A>G (n.*3149A>G)
c.2899A>G (p.Ile967Val)
c.73A>G (p.Ile25Val)
c.916A>G (p.Ile306Val)
c.975A>G
c.2107A>G (p.Ile703Val)
c.3235A>G (p.Ile1079Val)
c.150A>G
c.3415A>G (p.Ile1139Val)
c.3082A>G (p.Ile1028Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611766A>TCA368992546CFTRc.3325A>T (p.Ile1109Phe)
c.*3039A>T (n.*3039A>T)
c.3142A>T (p.Ile1048Phe)
c.*1625A>T (n.*1625A>T)
c.*3149A>T (n.*3149A>T)
c.2899A>T (p.Ile967Phe)
c.73A>T (p.Ile25Phe)
c.916A>T (p.Ile306Phe)
c.975A>T
c.2107A>T (p.Ile703Phe)
c.3235A>T (p.Ile1079Phe)
c.150A>T
c.3415A>T (p.Ile1139Phe)
c.3082A>T (p.Ile1028Phe)
7g.117611766_117611769delinsATCTCA1737387610CFTRc.3325_3328delinsATCT (p.Ile1109=)
c.*3039_*3042delinsATCT (n.*3039_*3042delinsATCT)
c.3142_3145delinsATCT (p.Ile1048=)
c.*1625_*1628delinsATCT (n.*1625_*1628delinsATCT)
c.*3149_*3152delinsATCT (n.*3149_*3152delinsATCT)
c.2899_2902delinsATCT (p.Ile967=)
c.73_76delinsATCT (p.Ile25=)
c.916_919delinsATCT (p.Ile306=)
c.975_978delinsATCT
c.2107_2110delinsATCT (p.Ile703=)
c.3235_3238delinsATCT (p.Ile1079=)
c.150_153delinsATCT
c.3415_3418delinsATCT (p.Ile1139=)
c.3082_3085delinsATCT (p.Ile1028=)
7g.117611767T>ACA368992548CFTRc.3326T>A (p.Ile1109Asn)
c.*3040T>A (n.*3040T>A)
c.3143T>A (p.Ile1048Asn)
c.*1626T>A (n.*1626T>A)
c.*3150T>A (n.*3150T>A)
c.2900T>A (p.Ile967Asn)
c.74T>A (p.Ile25Asn)
c.917T>A (p.Ile306Asn)
c.976T>A
c.2108T>A (p.Ile703Asn)
c.3236T>A (p.Ile1079Asn)
c.151T>A
c.3416T>A (p.Ile1139Asn)
c.3083T>A (p.Ile1028Asn)
7g.117611767T>CCA368992550CFTRc.3326T>C (p.Ile1109Thr)
c.*3040T>C (n.*3040T>C)
c.3143T>C (p.Ile1048Thr)
c.*1626T>C (n.*1626T>C)
c.*3150T>C (n.*3150T>C)
c.2900T>C (p.Ile967Thr)
c.74T>C (p.Ile25Thr)
c.917T>C (p.Ile306Thr)
c.976T>C
c.2108T>C (p.Ile703Thr)
c.3236T>C (p.Ile1079Thr)
c.151T>C
c.3416T>C (p.Ile1139Thr)
c.3083T>C (p.Ile1028Thr)
 ClinVar gnomAD v4
7g.117611767T>GCA368992551CFTRc.3326T>G (p.Ile1109Ser)
c.*3040T>G (n.*3040T>G)
c.3143T>G (p.Ile1048Ser)
c.*1626T>G (n.*1626T>G)
c.*3150T>G (n.*3150T>G)
c.2900T>G (p.Ile967Ser)
c.74T>G (p.Ile25Ser)
c.917T>G (p.Ile306Ser)
c.976T>G
c.2108T>G (p.Ile703Ser)
c.3236T>G (p.Ile1079Ser)
c.151T>G
c.3416T>G (p.Ile1139Ser)
c.3083T>G (p.Ile1028Ser)
7g.117611772_117611774delCA913189835CFTRc.3331_3333del (p.Phe1111del)
c.*3045_*3047del (n.*3045_*3047del)
c.3148_3150del (p.Phe1050del)
c.*1631_*1633del (n.*1631_*1633del)
c.*3155_*3157del (n.*3155_*3157del)
c.2905_2907del (p.Phe969del)
c.79_81del (p.Phe27del)
c.922_924del (p.Phe308del)
c.981_983del
c.2113_2115del (p.Phe705del)
c.3241_3243del (p.Phe1081del)
c.156_158del
c.3421_3423del (p.Phe1141del)
c.3088_3090del (p.Phe1030del)
 ClinVar dbSNP
7g.117611768C>ACA457230084CFTRc.3327C>A (p.Ile1109=)
c.*3041C>A (n.*3041C>A)
c.3144C>A (p.Ile1048=)
c.*1627C>A (n.*1627C>A)
c.*3151C>A (n.*3151C>A)
c.2901C>A (p.Ile967=)
c.75C>A (p.Ile25=)
c.918C>A (p.Ile306=)
c.977C>A
c.2109C>A (p.Ile703=)
c.3237C>A (p.Ile1079=)
c.152C>A
c.3417C>A (p.Ile1139=)
c.3084C>A (p.Ile1028=)
7g.117611768C=CA1737387620CFTRc.3327C= (p.Ile1109=)
c.*3041C= (n.*3041C=)
c.3144C= (p.Ile1048=)
c.*1627C= (n.*1627C=)
c.*3151C= (n.*3151C=)
c.2901C= (p.Ile967=)
c.75C= (p.Ile25=)
c.918C= (p.Ile306=)
c.977C=
c.2109C= (p.Ile703=)
c.3237C= (p.Ile1079=)
c.152C=
c.3417C= (p.Ile1139=)
c.3084C= (p.Ile1028=)
7g.117611768C>GCA368992552CFTRc.3327C>G (p.Ile1109Met)
c.*3041C>G (n.*3041C>G)
c.3144C>G (p.Ile1048Met)
c.*1627C>G (n.*1627C>G)
c.*3151C>G (n.*3151C>G)
c.2901C>G (p.Ile967Met)
c.75C>G (p.Ile25Met)
c.918C>G (p.Ile306Met)
c.977C>G
c.2109C>G (p.Ile703Met)
c.3237C>G (p.Ile1079Met)
c.152C>G
c.3417C>G (p.Ile1139Met)
c.3084C>G (p.Ile1028Met)
7g.117611768C>TCA4451425CFTRc.3327C>T (p.Ile1109=)
c.*3041C>T (n.*3041C>T)
c.3144C>T (p.Ile1048=)
c.*1627C>T (n.*1627C>T)
c.*3151C>T (n.*3151C>T)
c.2901C>T (p.Ile967=)
c.75C>T (p.Ile25=)
c.918C>T (p.Ile306=)
c.977C>T
c.2109C>T (p.Ile703=)
c.3237C>T (p.Ile1079=)
c.152C>T
c.3417C>T (p.Ile1139=)
c.3084C>T (p.Ile1028=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611769T>ACA368992553CFTRc.3328T>A (p.Phe1110Ile)
c.*3042T>A (n.*3042T>A)
c.3145T>A (p.Phe1049Ile)
c.*1628T>A (n.*1628T>A)
c.*3152T>A (n.*3152T>A)
c.2902T>A (p.Phe968Ile)
c.76T>A (p.Phe26Ile)
c.919T>A (p.Phe307Ile)
c.978T>A
c.2110T>A (p.Phe704Ile)
c.3238T>A (p.Phe1080Ile)
c.153T>A
c.3418T>A (p.Phe1140Ile)
c.3085T>A (p.Phe1029Ile)
7g.117611769T>CCA368992555CFTRc.3328T>C (p.Phe1110Leu)
c.*3042T>C (n.*3042T>C)
c.3145T>C (p.Phe1049Leu)
c.*1628T>C (n.*1628T>C)
c.*3152T>C (n.*3152T>C)
c.2902T>C (p.Phe968Leu)
c.76T>C (p.Phe26Leu)
c.919T>C (p.Phe307Leu)
c.978T>C
c.2110T>C (p.Phe704Leu)
c.3238T>C (p.Phe1080Leu)
c.153T>C
c.3418T>C (p.Phe1140Leu)
c.3085T>C (p.Phe1029Leu)
7g.117611769T>GCA368992554CFTRc.3328T>G (p.Phe1110Val)
c.*3042T>G (n.*3042T>G)
c.3145T>G (p.Phe1049Val)
c.*1628T>G (n.*1628T>G)
c.*3152T>G (n.*3152T>G)
c.2902T>G (p.Phe968Val)
c.76T>G (p.Phe26Val)
c.919T>G (p.Phe307Val)
c.978T>G
c.2110T>G (p.Phe704Val)
c.3238T>G (p.Phe1080Val)
c.153T>G
c.3418T>G (p.Phe1140Val)
c.3085T>G (p.Phe1029Val)
7g.117611770T>ACA368992556CFTRc.3329T>A (p.Phe1110Tyr)
c.*3043T>A (n.*3043T>A)
c.3146T>A (p.Phe1049Tyr)
c.*1629T>A (n.*1629T>A)
c.*3153T>A (n.*3153T>A)
c.2903T>A (p.Phe968Tyr)
c.77T>A (p.Phe26Tyr)
c.920T>A (p.Phe307Tyr)
c.979T>A
c.2111T>A (p.Phe704Tyr)
c.3239T>A (p.Phe1080Tyr)
c.154T>A
c.3419T>A (p.Phe1140Tyr)
c.3086T>A (p.Phe1029Tyr)
7g.117611770T>CCA368992558CFTRc.3329T>C (p.Phe1110Ser)
c.*3043T>C (n.*3043T>C)
c.3146T>C (p.Phe1049Ser)
c.*1629T>C (n.*1629T>C)
c.*3153T>C (n.*3153T>C)
c.2903T>C (p.Phe968Ser)
c.77T>C (p.Phe26Ser)
c.920T>C (p.Phe307Ser)
c.979T>C
c.2111T>C (p.Phe704Ser)
c.3239T>C (p.Phe1080Ser)
c.154T>C
c.3419T>C (p.Phe1140Ser)
c.3086T>C (p.Phe1029Ser)
7g.117611770T>GCA368992557CFTRc.3329T>G (p.Phe1110Cys)
c.*3043T>G (n.*3043T>G)
c.3146T>G (p.Phe1049Cys)
c.*1629T>G (n.*1629T>G)
c.*3153T>G (n.*3153T>G)
c.2903T>G (p.Phe968Cys)
c.77T>G (p.Phe26Cys)
c.920T>G (p.Phe307Cys)
c.979T>G
c.2111T>G (p.Phe704Cys)
c.3239T>G (p.Phe1080Cys)
c.154T>G
c.3419T>G (p.Phe1140Cys)
c.3086T>G (p.Phe1029Cys)
 dbSNP gnomAD v4
7g.117611770T=CA1737387624CFTRc.3329T= (p.Phe1110=)
c.*3043T= (n.*3043T=)
c.3146T= (p.Phe1049=)
c.*1629T= (n.*1629T=)
c.*3153T= (n.*3153T=)
c.2903T= (p.Phe968=)
c.77T= (p.Phe26=)
c.920T= (p.Phe307=)
c.979T=
c.2111T= (p.Phe704=)
c.3239T= (p.Phe1080=)
c.154T=
c.3419T= (p.Phe1140=)
c.3086T= (p.Phe1029=)
7g.117611771delCA2695199628CFTRc.3330del (p.Phe1111SerfsTer10)
c.*3044del (n.*3044del)
c.3147del (p.Phe1050SerfsTer10)
c.*1630del (n.*1630del)
c.*3154del (n.*3154del)
c.2904del (p.Phe969SerfsTer10)
c.78del (p.Phe27SerfsTer10)
c.921del (p.Phe308SerfsTer10)
c.980del
c.2112del (p.Phe705SerfsTer10)
c.3240del (p.Phe1081SerfsTer10)
c.155del
c.3420del (p.Phe1141SerfsTer10)
c.3087del (p.Phe1030SerfsTer10)
 ClinVar
7g.117611771C>ACA368992559CFTRc.3330C>A (p.Phe1110Leu)
c.*3044C>A (n.*3044C>A)
c.3147C>A (p.Phe1049Leu)
c.*1630C>A (n.*1630C>A)
c.*3154C>A (n.*3154C>A)
c.2904C>A (p.Phe968Leu)
c.78C>A (p.Phe26Leu)
c.921C>A (p.Phe307Leu)
c.980C>A
c.2112C>A (p.Phe704Leu)
c.3240C>A (p.Phe1080Leu)
c.155C>A
c.3420C>A (p.Phe1140Leu)
c.3087C>A (p.Phe1029Leu)
7g.117611771C=CA1737387634CFTRc.3330C= (p.Phe1110=)
c.*3044C= (n.*3044C=)
c.3147C= (p.Phe1049=)
c.*1630C= (n.*1630C=)
c.*3154C= (n.*3154C=)
c.2904C= (p.Phe968=)
c.78C= (p.Phe26=)
c.921C= (p.Phe307=)
c.980C=
c.2112C= (p.Phe704=)
c.3240C= (p.Phe1080=)
c.155C=
c.3420C= (p.Phe1140=)
c.3087C= (p.Phe1029=)
7g.117611771C>GCA368992560CFTRc.3330C>G (p.Phe1110Leu)
c.*3044C>G (n.*3044C>G)
c.3147C>G (p.Phe1049Leu)
c.*1630C>G (n.*1630C>G)
c.*3154C>G (n.*3154C>G)
c.2904C>G (p.Phe968Leu)
c.78C>G (p.Phe26Leu)
c.921C>G (p.Phe307Leu)
c.980C>G
c.2112C>G (p.Phe704Leu)
c.3240C>G (p.Phe1080Leu)
c.155C>G
c.3420C>G (p.Phe1140Leu)
c.3087C>G (p.Phe1029Leu)
7g.117611771C>TCA457230086CFTRc.3330C>T (p.Phe1110=)
c.*3044C>T (n.*3044C>T)
c.3147C>T (p.Phe1049=)
c.*1630C>T (n.*1630C>T)
c.*3154C>T (n.*3154C>T)
c.2904C>T (p.Phe968=)
c.78C>T (p.Phe26=)
c.921C>T (p.Phe307=)
c.980C>T
c.2112C>T (p.Phe704=)
c.3240C>T (p.Phe1080=)
c.155C>T
c.3420C>T (p.Phe1140=)
c.3087C>T (p.Phe1029=)
 ClinVar dbSNP gnomAD v4
7g.117611772T>ACA368992561CFTRc.3331T>A (p.Phe1111Ile)
c.*3045T>A (n.*3045T>A)
c.3148T>A (p.Phe1050Ile)
c.*1631T>A (n.*1631T>A)
c.*3155T>A (n.*3155T>A)
c.2905T>A (p.Phe969Ile)
c.79T>A (p.Phe27Ile)
c.922T>A (p.Phe308Ile)
c.981T>A
c.2113T>A (p.Phe705Ile)
c.3241T>A (p.Phe1081Ile)
c.156T>A
c.3421T>A (p.Phe1141Ile)
c.3088T>A (p.Phe1030Ile)
7g.117611772T>CCA4451426CFTRc.3331T>C (p.Phe1111Leu)
c.*3045T>C (n.*3045T>C)
c.3148T>C (p.Phe1050Leu)
c.*1631T>C (n.*1631T>C)
c.*3155T>C (n.*3155T>C)
c.2905T>C (p.Phe969Leu)
c.79T>C (p.Phe27Leu)
c.922T>C (p.Phe308Leu)
c.981T>C
c.2113T>C (p.Phe705Leu)
c.3241T>C (p.Phe1081Leu)
c.156T>C
c.3421T>C (p.Phe1141Leu)
c.3088T>C (p.Phe1030Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117611772T>GCA368992562CFTRc.3331T>G (p.Phe1111Val)
c.*3045T>G (n.*3045T>G)
c.3148T>G (p.Phe1050Val)
c.*1631T>G (n.*1631T>G)
c.*3155T>G (n.*3155T>G)
c.2905T>G (p.Phe969Val)
c.79T>G (p.Phe27Val)
c.922T>G (p.Phe308Val)
c.981T>G
c.2113T>G (p.Phe705Val)
c.3241T>G (p.Phe1081Val)
c.156T>G
c.3421T>G (p.Phe1141Val)
c.3088T>G (p.Phe1030Val)
7g.117611772T=CA1737387650CFTRc.3331T= (p.Phe1111=)
c.*3045T= (n.*3045T=)
c.3148T= (p.Phe1050=)
c.*1631T= (n.*1631T=)
c.*3155T= (n.*3155T=)
c.2905T= (p.Phe969=)
c.79T= (p.Phe27=)
c.922T= (p.Phe308=)
c.981T=
c.2113T= (p.Phe705=)
c.3241T= (p.Phe1081=)
c.156T=
c.3421T= (p.Phe1141=)
c.3088T= (p.Phe1030=)
7g.117611773T>ACA368992563CFTRc.3332T>A (p.Phe1111Tyr)
c.*3046T>A (n.*3046T>A)
c.3149T>A (p.Phe1050Tyr)
c.*1632T>A (n.*1632T>A)
c.*3156T>A (n.*3156T>A)
c.2906T>A (p.Phe969Tyr)
c.80T>A (p.Phe27Tyr)
c.923T>A (p.Phe308Tyr)
c.982T>A
c.2114T>A (p.Phe705Tyr)
c.3242T>A (p.Phe1081Tyr)
c.157T>A
c.3422T>A (p.Phe1141Tyr)
c.3089T>A (p.Phe1030Tyr)
7g.117611773T>CCA368992564CFTRc.3332T>C (p.Phe1111Ser)
c.*3046T>C (n.*3046T>C)
c.3149T>C (p.Phe1050Ser)
c.*1632T>C (n.*1632T>C)
c.*3156T>C (n.*3156T>C)
c.2906T>C (p.Phe969Ser)
c.80T>C (p.Phe27Ser)
c.923T>C (p.Phe308Ser)
c.982T>C
c.2114T>C (p.Phe705Ser)
c.3242T>C (p.Phe1081Ser)
c.157T>C
c.3422T>C (p.Phe1141Ser)
c.3089T>C (p.Phe1030Ser)
7g.117611773T>GCA368992565CFTRc.3332T>G (p.Phe1111Cys)
c.*3046T>G (n.*3046T>G)
c.3149T>G (p.Phe1050Cys)
c.*1632T>G (n.*1632T>G)
c.*3156T>G (n.*3156T>G)
c.2906T>G (p.Phe969Cys)
c.80T>G (p.Phe27Cys)
c.923T>G (p.Phe308Cys)
c.982T>G
c.2114T>G (p.Phe705Cys)
c.3242T>G (p.Phe1081Cys)
c.157T>G
c.3422T>G (p.Phe1141Cys)
c.3089T>G (p.Phe1030Cys)
 gnomAD v4
7g.117611774C>ACA368992566CFTRc.3333C>A (p.Phe1111Leu)
c.*3047C>A (n.*3047C>A)
c.3150C>A (p.Phe1050Leu)
c.*1633C>A (n.*1633C>A)
c.*3157C>A (n.*3157C>A)
c.2907C>A (p.Phe969Leu)
c.81C>A (p.Phe27Leu)
c.924C>A (p.Phe308Leu)
c.983C>A
c.2115C>A (p.Phe705Leu)
c.3243C>A (p.Phe1081Leu)
c.158C>A
c.3423C>A (p.Phe1141Leu)
c.3090C>A (p.Phe1030Leu)
7g.117611774C=CA1737387662CFTRc.3333C= (p.Phe1111=)
c.*3047C= (n.*3047C=)
c.3150C= (p.Phe1050=)
c.*1633C= (n.*1633C=)
c.*3157C= (n.*3157C=)
c.2907C= (p.Phe969=)
c.81C= (p.Phe27=)
c.924C= (p.Phe308=)
c.983C=
c.2115C= (p.Phe705=)
c.3243C= (p.Phe1081=)
c.158C=
c.3423C= (p.Phe1141=)
c.3090C= (p.Phe1030=)
7g.117611774C>GCA368992567CFTRc.3333C>G (p.Phe1111Leu)
c.*3047C>G (n.*3047C>G)
c.3150C>G (p.Phe1050Leu)
c.*1633C>G (n.*1633C>G)
c.*3157C>G (n.*3157C>G)
c.2907C>G (p.Phe969Leu)
c.81C>G (p.Phe27Leu)
c.924C>G (p.Phe308Leu)
c.983C>G
c.2115C>G (p.Phe705Leu)
c.3243C>G (p.Phe1081Leu)
c.158C>G
c.3423C>G (p.Phe1141Leu)
c.3090C>G (p.Phe1030Leu)
 COSMIC
7g.117611774C>TCA4451427CFTRc.3333C>T (p.Phe1111=)
c.*3047C>T (n.*3047C>T)
c.3150C>T (p.Phe1050=)
c.*1633C>T (n.*1633C>T)
c.*3157C>T (n.*3157C>T)
c.2907C>T (p.Phe969=)
c.81C>T (p.Phe27=)
c.924C>T (p.Phe308=)
c.983C>T
c.2115C>T (p.Phe705=)
c.3243C>T (p.Phe1081=)
c.158C>T
c.3423C>T (p.Phe1141=)
c.3090C>T (p.Phe1030=)
 ClinVar dbSNP ExAC
7g.117611775A=CA1737387674CFTRc.3334A= (p.Ile1112=)
c.*3048A= (n.*3048A=)
c.3151A= (p.Ile1051=)
c.*1634A= (n.*1634A=)
c.*3158A= (n.*3158A=)
c.2908A= (p.Ile970=)
c.82A= (p.Ile28=)
c.925A= (p.Ile309=)
c.984A=
c.2116A= (p.Ile706=)
c.3244A= (p.Ile1082=)
c.159A=
c.3424A= (p.Ile1142=)
c.3091A= (p.Ile1031=)
7g.117611775A>CCA368992570CFTRc.3334A>C (p.Ile1112Leu)
c.*3048A>C (n.*3048A>C)
c.3151A>C (p.Ile1051Leu)
c.*1634A>C (n.*1634A>C)
c.*3158A>C (n.*3158A>C)
c.2908A>C (p.Ile970Leu)
c.82A>C (p.Ile28Leu)
c.925A>C (p.Ile309Leu)
c.984A>C
c.2116A>C (p.Ile706Leu)
c.3244A>C (p.Ile1082Leu)
c.159A>C
c.3424A>C (p.Ile1142Leu)
c.3091A>C (p.Ile1031Leu)
7g.117611775A>GCA368992569CFTRc.3334A>G (p.Ile1112Val)
c.*3048A>G (n.*3048A>G)
c.3151A>G (p.Ile1051Val)
c.*1634A>G (n.*1634A>G)
c.*3158A>G (n.*3158A>G)
c.2908A>G (p.Ile970Val)
c.82A>G (p.Ile28Val)
c.925A>G (p.Ile309Val)
c.984A>G
c.2116A>G (p.Ile706Val)
c.3244A>G (p.Ile1082Val)
c.159A>G
c.3424A>G (p.Ile1142Val)
c.3091A>G (p.Ile1031Val)
 dbSNP COSMIC
7g.117611775A>TCA368992568CFTRc.3334A>T (p.Ile1112Phe)
c.*3048A>T (n.*3048A>T)
c.3151A>T (p.Ile1051Phe)
c.*1634A>T (n.*1634A>T)
c.*3158A>T (n.*3158A>T)
c.2908A>T (p.Ile970Phe)
c.82A>T (p.Ile28Phe)
c.925A>T (p.Ile309Phe)
c.984A>T
c.2116A>T (p.Ile706Phe)
c.3244A>T (p.Ile1082Phe)
c.159A>T
c.3424A>T (p.Ile1142Phe)
c.3091A>T (p.Ile1031Phe)
7g.117611776T>ACA368992571CFTRc.3335T>A (p.Ile1112Asn)
c.*3049T>A (n.*3049T>A)
c.3152T>A (p.Ile1051Asn)
c.*1635T>A (n.*1635T>A)
c.*3159T>A (n.*3159T>A)
c.2909T>A (p.Ile970Asn)
c.83T>A (p.Ile28Asn)
c.926T>A (p.Ile309Asn)
c.985T>A
c.2117T>A (p.Ile706Asn)
c.3245T>A (p.Ile1082Asn)
c.160T>A
c.3425T>A (p.Ile1142Asn)
c.3092T>A (p.Ile1031Asn)
7g.117611776T>CCA368992572CFTRc.3335T>C (p.Ile1112Thr)
c.*3049T>C (n.*3049T>C)
c.3152T>C (p.Ile1051Thr)
c.*1635T>C (n.*1635T>C)
c.*3159T>C (n.*3159T>C)
c.2909T>C (p.Ile970Thr)
c.83T>C (p.Ile28Thr)
c.926T>C (p.Ile309Thr)
c.985T>C
c.2117T>C (p.Ile706Thr)
c.3245T>C (p.Ile1082Thr)
c.160T>C
c.3425T>C (p.Ile1142Thr)
c.3092T>C (p.Ile1031Thr)
7g.117611776T>GCA368992573CFTRc.3335T>G (p.Ile1112Ser)
c.*3049T>G (n.*3049T>G)
c.3152T>G (p.Ile1051Ser)
c.*1635T>G (n.*1635T>G)
c.*3159T>G (n.*3159T>G)
c.2909T>G (p.Ile970Ser)
c.83T>G (p.Ile28Ser)
c.926T>G (p.Ile309Ser)
c.985T>G
c.2117T>G (p.Ile706Ser)
c.3245T>G (p.Ile1082Ser)
c.160T>G
c.3425T>G (p.Ile1142Ser)
c.3092T>G (p.Ile1031Ser)
 ClinVar dbSNP
7g.117611776T=CA1737387681CFTRc.3335T= (p.Ile1112=)
c.*3049T= (n.*3049T=)
c.3152T= (p.Ile1051=)
c.*1635T= (n.*1635T=)
c.*3159T= (n.*3159T=)
c.2909T= (p.Ile970=)
c.83T= (p.Ile28=)
c.926T= (p.Ile309=)
c.985T=
c.2117T= (p.Ile706=)
c.3245T= (p.Ile1082=)
c.160T=
c.3425T= (p.Ile1142=)
c.3092T= (p.Ile1031=)
7g.117611777T>ACA457230088CFTRc.3336T>A (p.Ile1112=)
c.*3050T>A (n.*3050T>A)
c.3153T>A (p.Ile1051=)
c.*1636T>A (n.*1636T>A)
c.*3160T>A (n.*3160T>A)
c.2910T>A (p.Ile970=)
c.84T>A (p.Ile28=)
c.927T>A (p.Ile309=)
c.986T>A
c.2118T>A (p.Ile706=)
c.3246T>A (p.Ile1082=)
c.161T>A
c.3426T>A (p.Ile1142=)
c.3093T>A (p.Ile1031=)
7g.117611777T>CCA457230089CFTRc.3336T>C (p.Ile1112=)
c.*3050T>C (n.*3050T>C)
c.3153T>C (p.Ile1051=)
c.*1636T>C (n.*1636T>C)
c.*3160T>C (n.*3160T>C)
c.2910T>C (p.Ile970=)
c.84T>C (p.Ile28=)
c.927T>C (p.Ile309=)
c.986T>C
c.2118T>C (p.Ile706=)
c.3246T>C (p.Ile1082=)
c.161T>C
c.3426T>C (p.Ile1142=)
c.3093T>C (p.Ile1031=)
7g.117611777T>GCA368992574CFTRc.3336T>G (p.Ile1112Met)
c.*3050T>G (n.*3050T>G)
c.3153T>G (p.Ile1051Met)
c.*1636T>G (n.*1636T>G)
c.*3160T>G (n.*3160T>G)
c.2910T>G (p.Ile970Met)
c.84T>G (p.Ile28Met)
c.927T>G (p.Ile309Met)
c.986T>G
c.2118T>G (p.Ile706Met)
c.3246T>G (p.Ile1082Met)
c.161T>G
c.3426T>G (p.Ile1142Met)
c.3093T>G (p.Ile1031Met)
7g.117611778G>ACA368992575CFTRc.3337G>A (p.Ala1113Thr)
c.*3051G>A (n.*3051G>A)
c.3154G>A (p.Ala1052Thr)
c.*1637G>A (n.*1637G>A)
c.*3161G>A (n.*3161G>A)
c.2911G>A (p.Ala971Thr)
c.85G>A (p.Ala29Thr)
c.928G>A (p.Ala310Thr)
c.987G>A
c.2119G>A (p.Ala707Thr)
c.3247G>A (p.Ala1083Thr)
c.162G>A
c.3427G>A (p.Ala1143Thr)
c.3094G>A (p.Ala1032Thr)
7g.117611778G>CCA368992576CFTRc.3337G>C (p.Ala1113Pro)
c.*3051G>C (n.*3051G>C)
c.3154G>C (p.Ala1052Pro)
c.*1637G>C (n.*1637G>C)
c.*3161G>C (n.*3161G>C)
c.2911G>C (p.Ala971Pro)
c.85G>C (p.Ala29Pro)
c.928G>C (p.Ala310Pro)
c.987G>C
c.2119G>C (p.Ala707Pro)
c.3247G>C (p.Ala1083Pro)
c.162G>C
c.3427G>C (p.Ala1143Pro)
c.3094G>C (p.Ala1032Pro)
7g.117611778G>TCA368992577CFTRc.3337G>T (p.Ala1113Ser)
c.*3051G>T (n.*3051G>T)
c.3154G>T (p.Ala1052Ser)
c.*1637G>T (n.*1637G>T)
c.*3161G>T (n.*3161G>T)
c.2911G>T (p.Ala971Ser)
c.85G>T (p.Ala29Ser)
c.928G>T (p.Ala310Ser)
c.987G>T
c.2119G>T (p.Ala707Ser)
c.3247G>T (p.Ala1083Ser)
c.162G>T
c.3427G>T (p.Ala1143Ser)
c.3094G>T (p.Ala1032Ser)
 gnomAD v4
7g.117611779C>ACA368992578CFTRc.3338C>A (p.Ala1113Asp)
c.*3052C>A (n.*3052C>A)
c.3155C>A (p.Ala1052Asp)
c.*1638C>A (n.*1638C>A)
c.*3162C>A (n.*3162C>A)
c.2912C>A (p.Ala971Asp)
c.86C>A (p.Ala29Asp)
c.929C>A (p.Ala310Asp)
c.988C>A
c.2120C>A (p.Ala707Asp)
c.3248C>A (p.Ala1083Asp)
c.163C>A
c.3428C>A (p.Ala1143Asp)
c.3095C>A (p.Ala1032Asp)
 gnomAD v4
7g.117611779C>GCA368992579CFTRc.3338C>G (p.Ala1113Gly)
c.*3052C>G (n.*3052C>G)
c.3155C>G (p.Ala1052Gly)
c.*1638C>G (n.*1638C>G)
c.*3162C>G (n.*3162C>G)
c.2912C>G (p.Ala971Gly)
c.86C>G (p.Ala29Gly)
c.929C>G (p.Ala310Gly)
c.988C>G
c.2120C>G (p.Ala707Gly)
c.3248C>G (p.Ala1083Gly)
c.163C>G
c.3428C>G (p.Ala1143Gly)
c.3095C>G (p.Ala1032Gly)
7g.117611779C>TCA368992580CFTRc.3338C>T (p.Ala1113Val)
c.*3052C>T (n.*3052C>T)
c.3155C>T (p.Ala1052Val)
c.*1638C>T (n.*1638C>T)
c.*3162C>T (n.*3162C>T)
c.2912C>T (p.Ala971Val)
c.86C>T (p.Ala29Val)
c.929C>T (p.Ala310Val)
c.988C>T
c.2120C>T (p.Ala707Val)
c.3248C>T (p.Ala1083Val)
c.163C>T
c.3428C>T (p.Ala1143Val)
c.3095C>T (p.Ala1032Val)
 COSMIC
7g.117611780T>ACA457230092CFTRc.3339T>A (p.Ala1113=)
c.*3053T>A (n.*3053T>A)
c.3156T>A (p.Ala1052=)
c.*1639T>A (n.*1639T>A)
c.*3163T>A (n.*3163T>A)
c.2913T>A (p.Ala971=)
c.87T>A (p.Ala29=)
c.930T>A (p.Ala310=)
c.989T>A
c.2121T>A (p.Ala707=)
c.3249T>A (p.Ala1083=)
c.164T>A
c.3429T>A (p.Ala1143=)
c.3096T>A (p.Ala1032=)
7g.117611780T>CCA164966813CFTRc.3339T>C (p.Ala1113=)
c.*3053T>C (n.*3053T>C)
c.3156T>C (p.Ala1052=)
c.*1639T>C (n.*1639T>C)
c.*3163T>C (n.*3163T>C)
c.2913T>C (p.Ala971=)
c.87T>C (p.Ala29=)
c.930T>C (p.Ala310=)
c.989T>C
c.2121T>C (p.Ala707=)
c.3249T>C (p.Ala1083=)
c.164T>C
c.3429T>C (p.Ala1143=)
c.3096T>C (p.Ala1032=)
 dbSNP gnomAD v4
7g.117611780T>GCA457230093CFTRc.3339T>G (p.Ala1113=)
c.*3053T>G (n.*3053T>G)
c.3156T>G (p.Ala1052=)
c.*1639T>G (n.*1639T>G)
c.*3163T>G (n.*3163T>G)
c.2913T>G (p.Ala971=)
c.87T>G (p.Ala29=)
c.930T>G (p.Ala310=)
c.989T>G
c.2121T>G (p.Ala707=)
c.3249T>G (p.Ala1083=)
c.164T>G
c.3429T>G (p.Ala1143=)
c.3096T>G (p.Ala1032=)
7g.117611780T=CA1737387689CFTRc.3339T= (p.Ala1113=)
c.*3053T= (n.*3053T=)
c.3156T= (p.Ala1052=)
c.*1639T= (n.*1639T=)
c.*3163T= (n.*3163T=)
c.2913T= (p.Ala971=)
c.87T= (p.Ala29=)
c.930T= (p.Ala310=)
c.989T=
c.2121T= (p.Ala707=)
c.3249T= (p.Ala1083=)
c.164T=
c.3429T= (p.Ala1143=)
c.3096T= (p.Ala1032=)
7g.117611781G>ACA368992582CFTRc.3340G>A (p.Val1114Ile)
c.*3054G>A (n.*3054G>A)
c.3157G>A (p.Val1053Ile)
c.*1640G>A (n.*1640G>A)
c.*3164G>A (n.*3164G>A)
c.2914G>A (p.Val972Ile)
c.88G>A (p.Val30Ile)
c.931G>A (p.Val311Ile)
c.990G>A
c.2122G>A (p.Val708Ile)
c.3250G>A (p.Val1084Ile)
c.165G>A
c.3430G>A (p.Val1144Ile)
c.3097G>A (p.Val1033Ile)
 gnomAD v4
7g.117611781G>CCA164966814CFTRc.3340G>C (p.Val1114Leu)
c.*3054G>C (n.*3054G>C)
c.3157G>C (p.Val1053Leu)
c.*1640G>C (n.*1640G>C)
c.*3164G>C (n.*3164G>C)
c.2914G>C (p.Val972Leu)
c.88G>C (p.Val30Leu)
c.931G>C (p.Val311Leu)
c.990G>C
c.2122G>C (p.Val708Leu)
c.3250G>C (p.Val1084Leu)
c.165G>C
c.3430G>C (p.Val1144Leu)
c.3097G>C (p.Val1033Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117611781G=CA1737387697CFTRc.3340G= (p.Val1114=)
c.*3054G= (n.*3054G=)
c.3157G= (p.Val1053=)
c.*1640G= (n.*1640G=)
c.*3164G= (n.*3164G=)
c.2914G= (p.Val972=)
c.88G= (p.Val30=)
c.931G= (p.Val311=)
c.990G=
c.2122G= (p.Val708=)
c.3250G= (p.Val1084=)
c.165G=
c.3430G= (p.Val1144=)
c.3097G= (p.Val1033=)
7g.117611781G>TCA368992581CFTRc.3340G>T (p.Val1114Phe)
c.*3054G>T (n.*3054G>T)
c.3157G>T (p.Val1053Phe)
c.*1640G>T (n.*1640G>T)
c.*3164G>T (n.*3164G>T)
c.2914G>T (p.Val972Phe)
c.88G>T (p.Val30Phe)
c.931G>T (p.Val311Phe)
c.990G>T
c.2122G>T (p.Val708Phe)
c.3250G>T (p.Val1084Phe)
c.165G>T
c.3430G>T (p.Val1144Phe)
c.3097G>T (p.Val1033Phe)
7g.117611782T>ACA368992583CFTRc.3341T>A (p.Val1114Asp)
c.*3055T>A (n.*3055T>A)
c.3158T>A (p.Val1053Asp)
c.*1641T>A (n.*1641T>A)
c.*3165T>A (n.*3165T>A)
c.2915T>A (p.Val972Asp)
c.89T>A (p.Val30Asp)
c.932T>A (p.Val311Asp)
c.991T>A
c.2123T>A (p.Val708Asp)
c.3251T>A (p.Val1084Asp)
c.166T>A
c.3431T>A (p.Val1144Asp)
c.3098T>A (p.Val1033Asp)
 gnomAD v4
7g.117611782T>CCA368992584CFTRc.3341T>C (p.Val1114Ala)
c.*3055T>C (n.*3055T>C)
c.3158T>C (p.Val1053Ala)
c.*1641T>C (n.*1641T>C)
c.*3165T>C (n.*3165T>C)
c.2915T>C (p.Val972Ala)
c.89T>C (p.Val30Ala)
c.932T>C (p.Val311Ala)
c.991T>C
c.2123T>C (p.Val708Ala)
c.3251T>C (p.Val1084Ala)
c.166T>C
c.3431T>C (p.Val1144Ala)
c.3098T>C (p.Val1033Ala)
7g.117611782T>GCA368992585CFTRc.3341T>G (p.Val1114Gly)
c.*3055T>G (n.*3055T>G)
c.3158T>G (p.Val1053Gly)
c.*1641T>G (n.*1641T>G)
c.*3165T>G (n.*3165T>G)
c.2915T>G (p.Val972Gly)
c.89T>G (p.Val30Gly)
c.932T>G (p.Val311Gly)
c.991T>G
c.2123T>G (p.Val708Gly)
c.3251T>G (p.Val1084Gly)
c.166T>G
c.3431T>G (p.Val1144Gly)
c.3098T>G (p.Val1033Gly)
7g.117611783T>ACA457230095CFTRc.3342T>A (p.Val1114=)
c.*3056T>A (n.*3056T>A)
c.3159T>A (p.Val1053=)
c.*1642T>A (n.*1642T>A)
c.*3166T>A (n.*3166T>A)
c.2916T>A (p.Val972=)
c.90T>A (p.Val30=)
c.933T>A (p.Val311=)
c.992T>A
c.2124T>A (p.Val708=)
c.3252T>A (p.Val1084=)
c.167T>A
c.3432T>A (p.Val1144=)
c.3099T>A (p.Val1033=)
7g.117611783T>CCA457230096CFTRc.3342T>C (p.Val1114=)
c.*3056T>C (n.*3056T>C)
c.3159T>C (p.Val1053=)
c.*1642T>C (n.*1642T>C)
c.*3166T>C (n.*3166T>C)
c.2916T>C (p.Val972=)
c.90T>C (p.Val30=)
c.933T>C (p.Val311=)
c.992T>C
c.2124T>C (p.Val708=)
c.3252T>C (p.Val1084=)
c.167T>C
c.3432T>C (p.Val1144=)
c.3099T>C (p.Val1033=)
 gnomAD v4
7g.117611783T>GCA457230094CFTRc.3342T>G (p.Val1114=)
c.*3056T>G (n.*3056T>G)
c.3159T>G (p.Val1053=)
c.*1642T>G (n.*1642T>G)
c.*3166T>G (n.*3166T>G)
c.2916T>G (p.Val972=)
c.90T>G (p.Val30=)
c.933T>G (p.Val311=)
c.992T>G
c.2124T>G (p.Val708=)
c.3252T>G (p.Val1084=)
c.167T>G
c.3432T>G (p.Val1144=)
c.3099T>G (p.Val1033=)
7g.117611783T=CA1737387706CFTRc.3342T= (p.Val1114=)
c.*3056T= (n.*3056T=)
c.3159T= (p.Val1053=)
c.*1642T= (n.*1642T=)
c.*3166T= (n.*3166T=)
c.2916T= (p.Val972=)
c.90T= (p.Val30=)
c.933T= (p.Val311=)
c.992T=
c.2124T= (p.Val708=)
c.3252T= (p.Val1084=)
c.167T=
c.3432T= (p.Val1144=)
c.3099T= (p.Val1033=)
7g.117611784A=CA1737387709CFTRc.3343A= (p.Thr1115=)
c.*3057A= (n.*3057A=)
c.3160A= (p.Thr1054=)
c.*1643A= (n.*1643A=)
c.*3167A= (n.*3167A=)
c.2917A= (p.Thr973=)
c.91A= (p.Thr31=)
c.934A= (p.Thr312=)
c.993A=
c.2125A= (p.Thr709=)
c.3253A= (p.Thr1085=)
c.168A=
c.3433A= (p.Thr1145=)
c.3100A= (p.Thr1034=)
7g.117611784A>CCA368992586CFTRc.3343A>C (p.Thr1115Pro)
c.*3057A>C (n.*3057A>C)
c.3160A>C (p.Thr1054Pro)
c.*1643A>C (n.*1643A>C)
c.*3167A>C (n.*3167A>C)
c.2917A>C (p.Thr973Pro)
c.91A>C (p.Thr31Pro)
c.934A>C (p.Thr312Pro)
c.993A>C
c.2125A>C (p.Thr709Pro)
c.3253A>C (p.Thr1085Pro)
c.168A>C
c.3433A>C (p.Thr1145Pro)
c.3100A>C (p.Thr1034Pro)
7g.117611784A>GCA368992587CFTRc.3343A>G (p.Thr1115Ala)
c.*3057A>G (n.*3057A>G)
c.3160A>G (p.Thr1054Ala)
c.*1643A>G (n.*1643A>G)
c.*3167A>G (n.*3167A>G)
c.2917A>G (p.Thr973Ala)
c.91A>G (p.Thr31Ala)
c.934A>G (p.Thr312Ala)
c.993A>G
c.2125A>G (p.Thr709Ala)
c.3253A>G (p.Thr1085Ala)
c.168A>G
c.3433A>G (p.Thr1145Ala)
c.3100A>G (p.Thr1034Ala)
 COSMIC
7g.117611784A>TCA368992588CFTRc.3343A>T (p.Thr1115Ser)
c.*3057A>T (n.*3057A>T)
c.3160A>T (p.Thr1054Ser)
c.*1643A>T (n.*1643A>T)
c.*3167A>T (n.*3167A>T)
c.2917A>T (p.Thr973Ser)
c.91A>T (p.Thr31Ser)
c.934A>T (p.Thr312Ser)
c.993A>T
c.2125A>T (p.Thr709Ser)
c.3253A>T (p.Thr1085Ser)
c.168A>T
c.3433A>T (p.Thr1145Ser)
c.3100A>T (p.Thr1034Ser)
 dbSNP
7g.117611784dupCA913189836CFTRc.3343dup (p.Thr1115AsnfsTer?)
c.*3057dup (n.*3057dup)
c.3160dup (p.Thr1054AsnfsTer?)
c.*1643dup (n.*1643dup)
c.*3167dup (n.*3167dup)
c.2917dup (p.Thr973AsnfsTer?)
c.91dup (p.Thr31AsnfsTer?)
c.934dup (p.Thr312AsnfsTer?)
c.993dup
c.2125dup (p.Thr709AsnfsTer?)
c.3253dup (p.Thr1085AsnfsTer?)
c.168dup
c.3433dup (p.Thr1145AsnfsTer?)
c.3100dup (p.Thr1034AsnfsTer?)
 ClinVar dbSNP
7g.117611785C>ACA368992589CFTRc.3344C>A (p.Thr1115Asn)
c.*3058C>A (n.*3058C>A)
c.3161C>A (p.Thr1054Asn)
c.*1644C>A (n.*1644C>A)
c.*3168C>A (n.*3168C>A)
c.2918C>A (p.Thr973Asn)
c.92C>A (p.Thr31Asn)
c.935C>A (p.Thr312Asn)
c.994C>A
c.2126C>A (p.Thr709Asn)
c.3254C>A (p.Thr1085Asn)
c.169C>A
c.3434C>A (p.Thr1145Asn)
c.3101C>A (p.Thr1034Asn)
 dbSNP gnomAD v3 gnomAD v4
7g.117611785C=CA1737387715CFTRc.3344C= (p.Thr1115=)
c.*3058C= (n.*3058C=)
c.3161C= (p.Thr1054=)
c.*1644C= (n.*1644C=)
c.*3168C= (n.*3168C=)
c.2918C= (p.Thr973=)
c.92C= (p.Thr31=)
c.935C= (p.Thr312=)
c.994C=
c.2126C= (p.Thr709=)
c.3254C= (p.Thr1085=)
c.169C=
c.3434C= (p.Thr1145=)
c.3101C= (p.Thr1034=)
7g.117611785C>GCA368992590CFTRc.3344C>G (p.Thr1115Ser)
c.*3058C>G (n.*3058C>G)
c.3161C>G (p.Thr1054Ser)
c.*1644C>G (n.*1644C>G)
c.*3168C>G (n.*3168C>G)
c.2918C>G (p.Thr973Ser)
c.92C>G (p.Thr31Ser)
c.935C>G (p.Thr312Ser)
c.994C>G
c.2126C>G (p.Thr709Ser)
c.3254C>G (p.Thr1085Ser)
c.169C>G
c.3434C>G (p.Thr1145Ser)
c.3101C>G (p.Thr1034Ser)
7g.117611785C>TCA368992591CFTRc.3344C>T (p.Thr1115Ile)
c.*3058C>T (n.*3058C>T)
c.3161C>T (p.Thr1054Ile)
c.*1644C>T (n.*1644C>T)
c.*3168C>T (n.*3168C>T)
c.2918C>T (p.Thr973Ile)
c.92C>T (p.Thr31Ile)
c.935C>T (p.Thr312Ile)
c.994C>T
c.2126C>T (p.Thr709Ile)
c.3254C>T (p.Thr1085Ile)
c.169C>T
c.3434C>T (p.Thr1145Ile)
c.3101C>T (p.Thr1034Ile)
 gnomAD v4
7g.117611786C>ACA457230098CFTRc.3345C>A (p.Thr1115=)
c.*3059C>A (n.*3059C>A)
c.3162C>A (p.Thr1054=)
c.*1645C>A (n.*1645C>A)
c.*3169C>A (n.*3169C>A)
c.2919C>A (p.Thr973=)
c.93C>A (p.Thr31=)
c.936C>A (p.Thr312=)
c.995C>A
c.2127C>A (p.Thr709=)
c.3255C>A (p.Thr1085=)
c.170C>A
c.3435C>A (p.Thr1145=)
c.3102C>A (p.Thr1034=)
7g.117611786C=CA1737387723CFTRc.3345C= (p.Thr1115=)
c.*3059C= (n.*3059C=)
c.3162C= (p.Thr1054=)
c.*1645C= (n.*1645C=)
c.*3169C= (n.*3169C=)
c.2919C= (p.Thr973=)
c.93C= (p.Thr31=)
c.936C= (p.Thr312=)
c.995C=
c.2127C= (p.Thr709=)
c.3255C= (p.Thr1085=)
c.170C=
c.3435C= (p.Thr1145=)
c.3102C= (p.Thr1034=)
7g.117611786C>GCA457230099CFTRc.3345C>G (p.Thr1115=)
c.*3059C>G (n.*3059C>G)
c.3162C>G (p.Thr1054=)
c.*1645C>G (n.*1645C>G)
c.*3169C>G (n.*3169C>G)
c.2919C>G (p.Thr973=)
c.93C>G (p.Thr31=)
c.936C>G (p.Thr312=)
c.995C>G
c.2127C>G (p.Thr709=)
c.3255C>G (p.Thr1085=)
c.170C>G
c.3435C>G (p.Thr1145=)
c.3102C>G (p.Thr1034=)
7g.117611786C>TCA457230100CFTRc.3345C>T (p.Thr1115=)
c.*3059C>T (n.*3059C>T)
c.3162C>T (p.Thr1054=)
c.*1645C>T (n.*1645C>T)
c.*3169C>T (n.*3169C>T)
c.2919C>T (p.Thr973=)
c.93C>T (p.Thr31=)
c.936C>T (p.Thr312=)
c.995C>T
c.2127C>T (p.Thr709=)
c.3255C>T (p.Thr1085=)
c.170C>T
c.3435C>T (p.Thr1145=)
c.3102C>T (p.Thr1034=)
 dbSNP gnomAD v2 gnomAD v4
7g.117611787T>ACA368992592CFTRc.3346T>A (p.Phe1116Ile)
c.*3060T>A (n.*3060T>A)
c.3163T>A (p.Phe1055Ile)
c.*1646T>A (n.*1646T>A)
c.*3170T>A (n.*3170T>A)
c.2920T>A (p.Phe974Ile)
c.94T>A (p.Phe32Ile)
c.937T>A (p.Phe313Ile)
c.996T>A
c.2128T>A (p.Phe710Ile)
c.3256T>A (p.Phe1086Ile)
c.171T>A
c.3436T>A (p.Phe1146Ile)
c.3103T>A (p.Phe1035Ile)
7g.117611787T>CCA368992593CFTRc.3346T>C (p.Phe1116Leu)
c.*3060T>C (n.*3060T>C)
c.3163T>C (p.Phe1055Leu)
c.*1646T>C (n.*1646T>C)
c.*3170T>C (n.*3170T>C)
c.2920T>C (p.Phe974Leu)
c.94T>C (p.Phe32Leu)
c.937T>C (p.Phe313Leu)
c.996T>C
c.2128T>C (p.Phe710Leu)
c.3256T>C (p.Phe1086Leu)
c.171T>C
c.3436T>C (p.Phe1146Leu)
c.3103T>C (p.Phe1035Leu)
7g.117611787T>GCA368992594CFTRc.3346T>G (p.Phe1116Val)
c.*3060T>G (n.*3060T>G)
c.3163T>G (p.Phe1055Val)
c.*1646T>G (n.*1646T>G)
c.*3170T>G (n.*3170T>G)
c.2920T>G (p.Phe974Val)
c.94T>G (p.Phe32Val)
c.937T>G (p.Phe313Val)
c.996T>G
c.2128T>G (p.Phe710Val)
c.3256T>G (p.Phe1086Val)
c.171T>G
c.3436T>G (p.Phe1146Val)
c.3103T>G (p.Phe1035Val)
7g.117611788T>ACA368992596CFTRc.3347T>A (p.Phe1116Tyr)
c.*3061T>A (n.*3061T>A)
c.3164T>A (p.Phe1055Tyr)
c.*1647T>A (n.*1647T>A)
c.*3171T>A (n.*3171T>A)
c.2921T>A (p.Phe974Tyr)
c.95T>A (p.Phe32Tyr)
c.938T>A (p.Phe313Tyr)
c.997T>A
c.2129T>A (p.Phe710Tyr)
c.3257T>A (p.Phe1086Tyr)
c.172T>A
c.3437T>A (p.Phe1146Tyr)
c.3104T>A (p.Phe1035Tyr)
7g.117611788T>CCA4451428CFTRc.3347T>C (p.Phe1116Ser)
c.*3061T>C (n.*3061T>C)
c.3164T>C (p.Phe1055Ser)
c.*1647T>C (n.*1647T>C)
c.*3171T>C (n.*3171T>C)
c.2921T>C (p.Phe974Ser)
c.95T>C (p.Phe32Ser)
c.938T>C (p.Phe313Ser)
c.997T>C
c.2129T>C (p.Phe710Ser)
c.3257T>C (p.Phe1086Ser)
c.172T>C
c.3437T>C (p.Phe1146Ser)
c.3104T>C (p.Phe1035Ser)
 dbSNP ExAC gnomAD v2
7g.117611788T>GCA368992595CFTRc.3347T>G (p.Phe1116Cys)
c.*3061T>G (n.*3061T>G)
c.3164T>G (p.Phe1055Cys)
c.*1647T>G (n.*1647T>G)
c.*3171T>G (n.*3171T>G)
c.2921T>G (p.Phe974Cys)
c.95T>G (p.Phe32Cys)
c.938T>G (p.Phe313Cys)
c.997T>G
c.2129T>G (p.Phe710Cys)
c.3257T>G (p.Phe1086Cys)
c.172T>G
c.3437T>G (p.Phe1146Cys)
c.3104T>G (p.Phe1035Cys)
7g.117611788T=CA1737387731CFTRc.3347T= (p.Phe1116=)
c.*3061T= (n.*3061T=)
c.3164T= (p.Phe1055=)
c.*1647T= (n.*1647T=)
c.*3171T= (n.*3171T=)
c.2921T= (p.Phe974=)
c.95T= (p.Phe32=)
c.938T= (p.Phe313=)
c.997T=
c.2129T= (p.Phe710=)
c.3257T= (p.Phe1086=)
c.172T=
c.3437T= (p.Phe1146=)
c.3104T= (p.Phe1035=)
7g.117611789C>ACA368992597CFTRc.3348C>A (p.Phe1116Leu)
c.*3062C>A (n.*3062C>A)
c.3165C>A (p.Phe1055Leu)
c.*1648C>A (n.*1648C>A)
c.*3172C>A (n.*3172C>A)
c.2922C>A (p.Phe974Leu)
c.96C>A (p.Phe32Leu)
c.939C>A (p.Phe313Leu)
c.998C>A
c.2130C>A (p.Phe710Leu)
c.3258C>A (p.Phe1086Leu)
c.173C>A
c.3438C>A (p.Phe1146Leu)
c.3105C>A (p.Phe1035Leu)
7g.117611789C=CA1737387734CFTRc.3348C= (p.Phe1116=)
c.*3062C= (n.*3062C=)
c.3165C= (p.Phe1055=)
c.*1648C= (n.*1648C=)
c.*3172C= (n.*3172C=)
c.2922C= (p.Phe974=)
c.96C= (p.Phe32=)
c.939C= (p.Phe313=)
c.998C=
c.2130C= (p.Phe710=)
c.3258C= (p.Phe1086=)
c.173C=
c.3438C= (p.Phe1146=)
c.3105C= (p.Phe1035=)
7g.117611789C>GCA368992598CFTRc.3348C>G (p.Phe1116Leu)
c.*3062C>G (n.*3062C>G)
c.3165C>G (p.Phe1055Leu)
c.*1648C>G (n.*1648C>G)
c.*3172C>G (n.*3172C>G)
c.2922C>G (p.Phe974Leu)
c.96C>G (p.Phe32Leu)
c.939C>G (p.Phe313Leu)
c.998C>G
c.2130C>G (p.Phe710Leu)
c.3258C>G (p.Phe1086Leu)
c.173C>G
c.3438C>G (p.Phe1146Leu)
c.3105C>G (p.Phe1035Leu)
 dbSNP gnomAD v3 gnomAD v4
7g.117611789C>TCA457230101CFTRc.3348C>T (p.Phe1116=)
c.*3062C>T (n.*3062C>T)
c.3165C>T (p.Phe1055=)
c.*1648C>T (n.*1648C>T)
c.*3172C>T (n.*3172C>T)
c.2922C>T (p.Phe974=)
c.96C>T (p.Phe32=)
c.939C>T (p.Phe313=)
c.998C>T
c.2130C>T (p.Phe710=)
c.3258C>T (p.Phe1086=)
c.173C>T
c.3438C>T (p.Phe1146=)
c.3105C>T (p.Phe1035=)
 gnomAD v4
7g.117611790A>CCA368992599CFTRc.3349A>C (p.Ile1117Leu)
c.*3063A>C (n.*3063A>C)
c.3166A>C (p.Ile1056Leu)
c.*1649A>C (n.*1649A>C)
c.*3173A>C (n.*3173A>C)
c.2923A>C (p.Ile975Leu)
c.97A>C (p.Ile33Leu)
c.940A>C (p.Ile314Leu)
c.999A>C
c.2131A>C (p.Ile711Leu)
c.3259A>C (p.Ile1087Leu)
c.174A>C
c.3439A>C (p.Ile1147Leu)
c.3106A>C (p.Ile1036Leu)
 ClinVar
7g.117611790A>GCA368992600CFTRc.3349A>G (p.Ile1117Val)
c.*3063A>G (n.*3063A>G)
c.3166A>G (p.Ile1056Val)
c.*1649A>G (n.*1649A>G)
c.*3173A>G (n.*3173A>G)
c.2923A>G (p.Ile975Val)
c.97A>G (p.Ile33Val)
c.940A>G (p.Ile314Val)
c.999A>G
c.2131A>G (p.Ile711Val)
c.3259A>G (p.Ile1087Val)
c.174A>G
c.3439A>G (p.Ile1147Val)
c.3106A>G (p.Ile1036Val)
 ClinVar gnomAD v4
7g.117611790A>TCA368992601CFTRc.3349A>T (p.Ile1117Phe)
c.*3063A>T (n.*3063A>T)
c.3166A>T (p.Ile1056Phe)
c.*1649A>T (n.*1649A>T)
c.*3173A>T (n.*3173A>T)
c.2923A>T (p.Ile975Phe)
c.97A>T (p.Ile33Phe)
c.940A>T (p.Ile314Phe)
c.999A>T
c.2131A>T (p.Ile711Phe)
c.3259A>T (p.Ile1087Phe)
c.174A>T
c.3439A>T (p.Ile1147Phe)
c.3106A>T (p.Ile1036Phe)
7g.117611791T>ACA368992602CFTRc.3350T>A (p.Ile1117Asn)
c.*3064T>A (n.*3064T>A)
c.3167T>A (p.Ile1056Asn)
c.*1650T>A (n.*1650T>A)
c.*3174T>A (n.*3174T>A)
c.2924T>A (p.Ile975Asn)
c.98T>A (p.Ile33Asn)
c.941T>A (p.Ile314Asn)
c.1000T>A
c.2132T>A (p.Ile711Asn)
c.3260T>A (p.Ile1087Asn)
c.175T>A
c.3440T>A (p.Ile1147Asn)
c.3107T>A (p.Ile1036Asn)
7g.117611791T>CCA4451429CFTRc.3350T>C (p.Ile1117Thr)
c.*3064T>C (n.*3064T>C)
c.3167T>C (p.Ile1056Thr)
c.*1650T>C (n.*1650T>C)
c.*3174T>C (n.*3174T>C)
c.2924T>C (p.Ile975Thr)
c.98T>C (p.Ile33Thr)
c.941T>C (p.Ile314Thr)
c.1000T>C
c.2132T>C (p.Ile711Thr)
c.3260T>C (p.Ile1087Thr)
c.175T>C
c.3440T>C (p.Ile1147Thr)
c.3107T>C (p.Ile1036Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611791T>GCA368992603CFTRc.3350T>G (p.Ile1117Ser)
c.*3064T>G (n.*3064T>G)
c.3167T>G (p.Ile1056Ser)
c.*1650T>G (n.*1650T>G)
c.*3174T>G (n.*3174T>G)
c.2924T>G (p.Ile975Ser)
c.98T>G (p.Ile33Ser)
c.941T>G (p.Ile314Ser)
c.1000T>G
c.2132T>G (p.Ile711Ser)
c.3260T>G (p.Ile1087Ser)
c.175T>G
c.3440T>G (p.Ile1147Ser)
c.3107T>G (p.Ile1036Ser)
7g.117611791T=CA1737387743CFTRc.3350T= (p.Ile1117=)
c.*3064T= (n.*3064T=)
c.3167T= (p.Ile1056=)
c.*1650T= (n.*1650T=)
c.*3174T= (n.*3174T=)
c.2924T= (p.Ile975=)
c.98T= (p.Ile33=)
c.941T= (p.Ile314=)
c.1000T=
c.2132T= (p.Ile711=)
c.3260T= (p.Ile1087=)
c.175T=
c.3440T= (p.Ile1147=)
c.3107T= (p.Ile1036=)
7g.117611792_117611793delCA2739279038CFTRc.3351_3352del (p.Ser1118HisfsTer?)
c.*3065_*3066del (n.*3065_*3066del)
c.3168_3169del (p.Ser1057HisfsTer?)
c.*1651_*1652del (n.*1651_*1652del)
c.*3175_*3176del (n.*3175_*3176del)
c.2925_2926del (p.Ser976HisfsTer?)
c.99_100del (p.Ser34HisfsTer?)
c.942_943del (p.Ser315HisfsTer?)
c.1001_1002del
c.2133_2134del (p.Ser712HisfsTer?)
c.3261_3262del (p.Ser1088HisfsTer?)
c.176_177del
c.3441_3442del (p.Ser1148HisfsTer?)
c.3108_3109del (p.Ser1037HisfsTer?)
 ClinVar
7g.117611792T>ACA457230102CFTRc.3351T>A (p.Ile1117=)
c.*3065T>A (n.*3065T>A)
c.3168T>A (p.Ile1056=)
c.*1651T>A (n.*1651T>A)
c.*3175T>A (n.*3175T>A)
c.2925T>A (p.Ile975=)
c.99T>A (p.Ile33=)
c.942T>A (p.Ile314=)
c.1001T>A
c.2133T>A (p.Ile711=)
c.3261T>A (p.Ile1087=)
c.176T>A
c.3441T>A (p.Ile1147=)
c.3108T>A (p.Ile1036=)
7g.117611792T>CCA457230103CFTRc.3351T>C (p.Ile1117=)
c.*3065T>C (n.*3065T>C)
c.3168T>C (p.Ile1056=)
c.*1651T>C (n.*1651T>C)
c.*3175T>C (n.*3175T>C)
c.2925T>C (p.Ile975=)
c.99T>C (p.Ile33=)
c.942T>C (p.Ile314=)
c.1001T>C
c.2133T>C (p.Ile711=)
c.3261T>C (p.Ile1087=)
c.176T>C
c.3441T>C (p.Ile1147=)
c.3108T>C (p.Ile1036=)
7g.117611792T>GCA368992604CFTRc.3351T>G (p.Ile1117Met)
c.*3065T>G (n.*3065T>G)
c.3168T>G (p.Ile1056Met)
c.*1651T>G (n.*1651T>G)
c.*3175T>G (n.*3175T>G)
c.2925T>G (p.Ile975Met)
c.99T>G (p.Ile33Met)
c.942T>G (p.Ile314Met)
c.1001T>G
c.2133T>G (p.Ile711Met)
c.3261T>G (p.Ile1087Met)
c.176T>G
c.3441T>G (p.Ile1147Met)
c.3108T>G (p.Ile1036Met)
7g.117611793T>ACA368992605CFTRc.3352T>A (p.Ser1118Thr)
c.*3066T>A (n.*3066T>A)
c.3169T>A (p.Ser1057Thr)
c.*1652T>A (n.*1652T>A)
c.*3176T>A (n.*3176T>A)
c.2926T>A (p.Ser976Thr)
c.100T>A (p.Ser34Thr)
c.943T>A (p.Ser315Thr)
c.1002T>A
c.2134T>A (p.Ser712Thr)
c.3262T>A (p.Ser1088Thr)
c.177T>A
c.3442T>A (p.Ser1148Thr)
c.3109T>A (p.Ser1037Thr)
7g.117611793T>CCA368992606CFTRc.3352T>C (p.Ser1118Pro)
c.*3066T>C (n.*3066T>C)
c.3169T>C (p.Ser1057Pro)
c.*1652T>C (n.*1652T>C)
c.*3176T>C (n.*3176T>C)
c.2926T>C (p.Ser976Pro)
c.100T>C (p.Ser34Pro)
c.943T>C (p.Ser315Pro)
c.1002T>C
c.2134T>C (p.Ser712Pro)
c.3262T>C (p.Ser1088Pro)
c.177T>C
c.3442T>C (p.Ser1148Pro)
c.3109T>C (p.Ser1037Pro)
 ClinVar dbSNP gnomAD v4
7g.117611793T>GCA368992607CFTRc.3352T>G (p.Ser1118Ala)
c.*3066T>G (n.*3066T>G)
c.3169T>G (p.Ser1057Ala)
c.*1652T>G (n.*1652T>G)
c.*3176T>G (n.*3176T>G)
c.2926T>G (p.Ser976Ala)
c.100T>G (p.Ser34Ala)
c.943T>G (p.Ser315Ala)
c.1002T>G
c.2134T>G (p.Ser712Ala)
c.3262T>G (p.Ser1088Ala)
c.177T>G
c.3442T>G (p.Ser1148Ala)
c.3109T>G (p.Ser1037Ala)
7g.117611793T=CA1737387750CFTRc.3352T= (p.Ser1118=)
c.*3066T= (n.*3066T=)
c.3169T= (p.Ser1057=)
c.*1652T= (n.*1652T=)
c.*3176T= (n.*3176T=)
c.2926T= (p.Ser976=)
c.100T= (p.Ser34=)
c.943T= (p.Ser315=)
c.1002T=
c.2134T= (p.Ser712=)
c.3262T= (p.Ser1088=)
c.177T=
c.3442T= (p.Ser1148=)
c.3109T= (p.Ser1037=)
7g.117611794C>ACA368992608CFTRc.3353C>A (p.Ser1118Tyr)
c.*3067C>A (n.*3067C>A)
c.3170C>A (p.Ser1057Tyr)
c.*1653C>A (n.*1653C>A)
c.*3177C>A (n.*3177C>A)
c.2927C>A (p.Ser976Tyr)
c.101C>A (p.Ser34Tyr)
c.944C>A (p.Ser315Tyr)
c.1003C>A
c.2135C>A (p.Ser712Tyr)
c.3263C>A (p.Ser1088Tyr)
c.178C>A
c.3443C>A (p.Ser1148Tyr)
c.3110C>A (p.Ser1037Tyr)
7g.117611794C=CA1737387758CFTRc.3353C= (p.Ser1118=)
c.*3067C= (n.*3067C=)
c.3170C= (p.Ser1057=)
c.*1653C= (n.*1653C=)
c.*3177C= (n.*3177C=)
c.2927C= (p.Ser976=)
c.101C= (p.Ser34=)
c.944C= (p.Ser315=)
c.1003C=
c.2135C= (p.Ser712=)
c.3263C= (p.Ser1088=)
c.178C=
c.3443C= (p.Ser1148=)
c.3110C= (p.Ser1037=)
7g.117611794C>GCA327150CFTRc.3353C>G (p.Ser1118Cys)
c.*3067C>G (n.*3067C>G)
c.3170C>G (p.Ser1057Cys)
c.*1653C>G (n.*1653C>G)
c.*3177C>G (n.*3177C>G)
c.2927C>G (p.Ser976Cys)
c.101C>G (p.Ser34Cys)
c.944C>G (p.Ser315Cys)
c.1003C>G
c.2135C>G (p.Ser712Cys)
c.3263C>G (p.Ser1088Cys)
c.178C>G
c.3443C>G (p.Ser1148Cys)
c.3110C>G (p.Ser1037Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611794C>TCA327152CFTRc.3353C>T (p.Ser1118Phe)
c.*3067C>T (n.*3067C>T)
c.3170C>T (p.Ser1057Phe)
c.*1653C>T (n.*1653C>T)
c.*3177C>T (n.*3177C>T)
c.2927C>T (p.Ser976Phe)
c.101C>T (p.Ser34Phe)
c.944C>T (p.Ser315Phe)
c.1003C>T
c.2135C>T (p.Ser712Phe)
c.3263C>T (p.Ser1088Phe)
c.178C>T
c.3443C>T (p.Ser1148Phe)
c.3110C>T (p.Ser1037Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611795C>ACA457230104CFTRc.3354C>A (p.Ser1118=)
c.*3068C>A (n.*3068C>A)
c.3171C>A (p.Ser1057=)
c.*1654C>A (n.*1654C>A)
c.*3178C>A (n.*3178C>A)
c.2928C>A (p.Ser976=)
c.102C>A (p.Ser34=)
c.945C>A (p.Ser315=)
c.1004C>A
c.2136C>A (p.Ser712=)
c.3264C>A (p.Ser1088=)
c.179C>A
c.3444C>A (p.Ser1148=)
c.3111C>A (p.Ser1037=)
7g.117611795C>GCA457230105CFTRc.3354C>G (p.Ser1118=)
c.*3068C>G (n.*3068C>G)
c.3171C>G (p.Ser1057=)
c.*1654C>G (n.*1654C>G)
c.*3178C>G (n.*3178C>G)
c.2928C>G (p.Ser976=)
c.102C>G (p.Ser34=)
c.945C>G (p.Ser315=)
c.1004C>G
c.2136C>G (p.Ser712=)
c.3264C>G (p.Ser1088=)
c.179C>G
c.3444C>G (p.Ser1148=)
c.3111C>G (p.Ser1037=)
7g.117611795C>TCA457230106CFTRc.3354C>T (p.Ser1118=)
c.*3068C>T (n.*3068C>T)
c.3171C>T (p.Ser1057=)
c.*1654C>T (n.*1654C>T)
c.*3178C>T (n.*3178C>T)
c.2928C>T (p.Ser976=)
c.102C>T (p.Ser34=)
c.945C>T (p.Ser315=)
c.1004C>T
c.2136C>T (p.Ser712=)
c.3264C>T (p.Ser1088=)
c.179C>T
c.3444C>T (p.Ser1148=)
c.3111C>T (p.Ser1037=)
 gnomAD v4
7g.117611796A=CA1737387769CFTRc.3355A= (p.Ile1119=)
c.*3069A= (n.*3069A=)
c.3172A= (p.Ile1058=)
c.*1655A= (n.*1655A=)
c.*3179A= (n.*3179A=)
c.2929A= (p.Ile977=)
c.103A= (p.Ile35=)
c.946A= (p.Ile316=)
c.1005A=
c.2137A= (p.Ile713=)
c.3265A= (p.Ile1089=)
c.180A=
c.3445A= (p.Ile1149=)
c.3112A= (p.Ile1038=)
7g.117611796A>CCA368992609CFTRc.3355A>C (p.Ile1119Leu)
c.*3069A>C (n.*3069A>C)
c.3172A>C (p.Ile1058Leu)
c.*1655A>C (n.*1655A>C)
c.*3179A>C (n.*3179A>C)
c.2929A>C (p.Ile977Leu)
c.103A>C (p.Ile35Leu)
c.946A>C (p.Ile316Leu)
c.1005A>C
c.2137A>C (p.Ile713Leu)
c.3265A>C (p.Ile1089Leu)
c.180A>C
c.3445A>C (p.Ile1149Leu)
c.3112A>C (p.Ile1038Leu)
7g.117611796A>GCA368992610CFTRc.3355A>G (p.Ile1119Val)
c.*3069A>G (n.*3069A>G)
c.3172A>G (p.Ile1058Val)
c.*1655A>G (n.*1655A>G)
c.*3179A>G (n.*3179A>G)
c.2929A>G (p.Ile977Val)
c.103A>G (p.Ile35Val)
c.946A>G (p.Ile316Val)
c.1005A>G
c.2137A>G (p.Ile713Val)
c.3265A>G (p.Ile1089Val)
c.180A>G
c.3445A>G (p.Ile1149Val)
c.3112A>G (p.Ile1038Val)
 dbSNP
7g.117611796A>TCA368992611CFTRc.3355A>T (p.Ile1119Phe)
c.*3069A>T (n.*3069A>T)
c.3172A>T (p.Ile1058Phe)
c.*1655A>T (n.*1655A>T)
c.*3179A>T (n.*3179A>T)
c.2929A>T (p.Ile977Phe)
c.103A>T (p.Ile35Phe)
c.946A>T (p.Ile316Phe)
c.1005A>T
c.2137A>T (p.Ile713Phe)
c.3265A>T (p.Ile1089Phe)
c.180A>T
c.3445A>T (p.Ile1149Phe)
c.3112A>T (p.Ile1038Phe)
 ClinVar
7g.117611797T>ACA368992612CFTRc.3356T>A (p.Ile1119Asn)
c.*3070T>A (n.*3070T>A)
c.3173T>A (p.Ile1058Asn)
c.*1656T>A (n.*1656T>A)
c.*3180T>A (n.*3180T>A)
c.2930T>A (p.Ile977Asn)
c.104T>A (p.Ile35Asn)
c.947T>A (p.Ile316Asn)
c.1006T>A
c.2138T>A (p.Ile713Asn)
c.3266T>A (p.Ile1089Asn)
c.181T>A
c.3446T>A (p.Ile1149Asn)
c.3113T>A (p.Ile1038Asn)
7g.117611797T>CCA368992613CFTRc.3356T>C (p.Ile1119Thr)
c.*3070T>C (n.*3070T>C)
c.3173T>C (p.Ile1058Thr)
c.*1656T>C (n.*1656T>C)
c.*3180T>C (n.*3180T>C)
c.2930T>C (p.Ile977Thr)
c.104T>C (p.Ile35Thr)
c.947T>C (p.Ile316Thr)
c.1006T>C
c.2138T>C (p.Ile713Thr)
c.3266T>C (p.Ile1089Thr)
c.181T>C
c.3446T>C (p.Ile1149Thr)
c.3113T>C (p.Ile1038Thr)
 ClinVar dbSNP
7g.117611797T>GCA368992614CFTRc.3356T>G (p.Ile1119Ser)
c.*3070T>G (n.*3070T>G)
c.3173T>G (p.Ile1058Ser)
c.*1656T>G (n.*1656T>G)
c.*3180T>G (n.*3180T>G)
c.2930T>G (p.Ile977Ser)
c.104T>G (p.Ile35Ser)
c.947T>G (p.Ile316Ser)
c.1006T>G
c.2138T>G (p.Ile713Ser)
c.3266T>G (p.Ile1089Ser)
c.181T>G
c.3446T>G (p.Ile1149Ser)
c.3113T>G (p.Ile1038Ser)
7g.117611797T=CA1737387773CFTRc.3356T= (p.Ile1119=)
c.*3070T= (n.*3070T=)
c.3173T= (p.Ile1058=)
c.*1656T= (n.*1656T=)
c.*3180T= (n.*3180T=)
c.2930T= (p.Ile977=)
c.104T= (p.Ile35=)
c.947T= (p.Ile316=)
c.1006T=
c.2138T= (p.Ile713=)
c.3266T= (p.Ile1089=)
c.181T=
c.3446T= (p.Ile1149=)
c.3113T= (p.Ile1038=)
7g.117611798T>ACA457230109CFTRc.3357T>A (p.Ile1119=)
c.*3071T>A (n.*3071T>A)
c.3174T>A (p.Ile1058=)
c.*1657T>A (n.*1657T>A)
c.*3181T>A (n.*3181T>A)
c.2931T>A (p.Ile977=)
c.105T>A (p.Ile35=)
c.948T>A (p.Ile316=)
c.1007T>A
c.2139T>A (p.Ile713=)
c.3267T>A (p.Ile1089=)
c.182T>A
c.3447T>A (p.Ile1149=)
c.3114T>A (p.Ile1038=)
7g.117611798T>CCA457230110CFTRc.3357T>C (p.Ile1119=)
c.*3071T>C (n.*3071T>C)
c.3174T>C (p.Ile1058=)
c.*1657T>C (n.*1657T>C)
c.*3181T>C (n.*3181T>C)
c.2931T>C (p.Ile977=)
c.105T>C (p.Ile35=)
c.948T>C (p.Ile316=)
c.1007T>C
c.2139T>C (p.Ile713=)
c.3267T>C (p.Ile1089=)
c.182T>C
c.3447T>C (p.Ile1149=)
c.3114T>C (p.Ile1038=)
7g.117611798T>GCA368992615CFTRc.3357T>G (p.Ile1119Met)
c.*3071T>G (n.*3071T>G)
c.3174T>G (p.Ile1058Met)
c.*1657T>G (n.*1657T>G)
c.*3181T>G (n.*3181T>G)
c.2931T>G (p.Ile977Met)
c.105T>G (p.Ile35Met)
c.948T>G (p.Ile316Met)
c.1007T>G
c.2139T>G (p.Ile713Met)
c.3267T>G (p.Ile1089Met)
c.182T>G
c.3447T>G (p.Ile1149Met)
c.3114T>G (p.Ile1038Met)
7g.117611798_117611800delinsACA2580076390CFTRc.3357_3359delinsA (p.Leu1120AsnfsTer?)
c.*3071_*3073delinsA (n.*3071_*3073delinsA)
c.3174_3176delinsA (p.Leu1059AsnfsTer?)
c.*1657_*1659delinsA (n.*1657_*1659delinsA)
c.*3181_*3183delinsA (n.*3181_*3183delinsA)
c.2931_2933delinsA (p.Leu978AsnfsTer?)
c.105_107delinsA (p.Leu36AsnfsTer?)
c.948_950delinsA (p.Leu317AsnfsTer?)
c.1007_1009delinsA
c.2139_2141delinsA (p.Leu714AsnfsTer?)
c.3267_3269delinsA (p.Leu1090AsnfsTer?)
c.182_184delinsA
c.3447_3449delinsA (p.Leu1150AsnfsTer?)
c.3114_3116delinsA (p.Leu1039AsnfsTer?)
 ClinVar
7g.117611799T>ACA368992616CFTRc.3358T>A (p.Leu1120Ile)
c.*3072T>A (n.*3072T>A)
c.3175T>A (p.Leu1059Ile)
c.*1658T>A (n.*1658T>A)
c.*3182T>A (n.*3182T>A)
c.2932T>A (p.Leu978Ile)
c.106T>A (p.Leu36Ile)
c.949T>A (p.Leu317Ile)
c.1008T>A
c.2140T>A (p.Leu714Ile)
c.3268T>A (p.Leu1090Ile)
c.183T>A
c.3448T>A (p.Leu1150Ile)
c.3115T>A (p.Leu1039Ile)
7g.117611799T>CCA457230111CFTRc.3358T>C (p.Leu1120=)
c.*3072T>C (n.*3072T>C)
c.3175T>C (p.Leu1059=)
c.*1658T>C (n.*1658T>C)
c.*3182T>C (n.*3182T>C)
c.2932T>C (p.Leu978=)
c.106T>C (p.Leu36=)
c.949T>C (p.Leu317=)
c.1008T>C
c.2140T>C (p.Leu714=)
c.3268T>C (p.Leu1090=)
c.183T>C
c.3448T>C (p.Leu1150=)
c.3115T>C (p.Leu1039=)
7g.117611799T>GCA368992617CFTRc.3358T>G (p.Leu1120Val)
c.*3072T>G (n.*3072T>G)
c.3175T>G (p.Leu1059Val)
c.*1658T>G (n.*1658T>G)
c.*3182T>G (n.*3182T>G)
c.2932T>G (p.Leu978Val)
c.106T>G (p.Leu36Val)
c.949T>G (p.Leu317Val)
c.1008T>G
c.2140T>G (p.Leu714Val)
c.3268T>G (p.Leu1090Val)
c.183T>G
c.3448T>G (p.Leu1150Val)
c.3115T>G (p.Leu1039Val)
7g.117611800T>ACA368992618CFTRc.3359T>A (p.Leu1120Ter)
c.*3073T>A (n.*3073T>A)
c.3176T>A (p.Leu1059Ter)
c.*1659T>A (n.*1659T>A)
c.*3183T>A (n.*3183T>A)
c.2933T>A (p.Leu978Ter)
c.107T>A (p.Leu36Ter)
c.950T>A (p.Leu317Ter)
c.1009T>A
c.2141T>A (p.Leu714Ter)
c.3269T>A (p.Leu1090Ter)
c.184T>A
c.3449T>A (p.Leu1150Ter)
c.3116T>A (p.Leu1039Ter)
7g.117611800T>CCA368992619CFTRc.3359T>C (p.Leu1120Ser)
c.*3073T>C (n.*3073T>C)
c.3176T>C (p.Leu1059Ser)
c.*1659T>C (n.*1659T>C)
c.*3183T>C (n.*3183T>C)
c.2933T>C (p.Leu978Ser)
c.107T>C (p.Leu36Ser)
c.950T>C (p.Leu317Ser)
c.1009T>C
c.2141T>C (p.Leu714Ser)
c.3269T>C (p.Leu1090Ser)
c.184T>C
c.3449T>C (p.Leu1150Ser)
c.3116T>C (p.Leu1039Ser)
7g.117611800T>GCA368992620CFTRc.3359T>G (p.Leu1120Ter)
c.*3073T>G (n.*3073T>G)
c.3176T>G (p.Leu1059Ter)
c.*1659T>G (n.*1659T>G)
c.*3183T>G (n.*3183T>G)
c.2933T>G (p.Leu978Ter)
c.107T>G (p.Leu36Ter)
c.950T>G (p.Leu317Ter)
c.1009T>G
c.2141T>G (p.Leu714Ter)
c.3269T>G (p.Leu1090Ter)
c.184T>G
c.3449T>G (p.Leu1150Ter)
c.3116T>G (p.Leu1039Ter)
7g.117611800_117611803delCA913111899CFTRc.3359_3362del (p.Leu1120Ter)
c.*3073_*3076del (n.*3073_*3076del)
c.3176_3179del (p.Leu1059Ter)
c.*1659_*1662del (n.*1659_*1662del)
c.*3183_*3186del (n.*3183_*3186del)
c.2933_2936del (p.Leu978Ter)
c.107_110del (p.Leu36Ter)
c.950_953del (p.Leu317Ter)
c.1009_1012del
c.2141_2144del (p.Leu714Ter)
c.3269_3272del (p.Leu1090Ter)
c.184_187del
c.3449_3452del (p.Leu1150Ter)
c.3116_3119del (p.Leu1039Ter)
7g.117611800_117611803delinsTAACCA1737387784CFTRc.3359_3362delinsTAAC (p.Leu1120=)
c.*3073_*3076delinsTAAC (n.*3073_*3076delinsTAAC)
c.3176_3179delinsTAAC (p.Leu1059=)
c.*1659_*1662delinsTAAC (n.*1659_*1662delinsTAAC)
c.*3183_*3186delinsTAAC (n.*3183_*3186delinsTAAC)
c.2933_2936delinsTAAC (p.Leu978=)
c.107_110delinsTAAC (p.Leu36=)
c.950_953delinsTAAC (p.Leu317=)
c.1009_1012delinsTAAC
c.2141_2144delinsTAAC (p.Leu714=)
c.3269_3272delinsTAAC (p.Leu1090=)
c.184_187delinsTAAC
c.3449_3452delinsTAAC (p.Leu1150=)
c.3116_3119delinsTAAC (p.Leu1039=)
7g.117611801A>CCA368992621CFTRc.3360A>C (p.Leu1120Phe)
c.*3074A>C (n.*3074A>C)
c.3177A>C (p.Leu1059Phe)
c.*1660A>C (n.*1660A>C)
c.*3184A>C (n.*3184A>C)
c.2934A>C (p.Leu978Phe)
c.108A>C (p.Leu36Phe)
c.951A>C (p.Leu317Phe)
c.1010A>C
c.2142A>C (p.Leu714Phe)
c.3270A>C (p.Leu1090Phe)
c.185A>C
c.3450A>C (p.Leu1150Phe)
c.3117A>C (p.Leu1039Phe)
7g.117611801A>GCA457230113CFTRc.3360A>G (p.Leu1120=)
c.*3074A>G (n.*3074A>G)
c.3177A>G (p.Leu1059=)
c.*1660A>G (n.*1660A>G)
c.*3184A>G (n.*3184A>G)
c.2934A>G (p.Leu978=)
c.108A>G (p.Leu36=)
c.951A>G (p.Leu317=)
c.1010A>G
c.2142A>G (p.Leu714=)
c.3270A>G (p.Leu1090=)
c.185A>G
c.3450A>G (p.Leu1150=)
c.3117A>G (p.Leu1039=)
7g.117611801A>TCA368992622CFTRc.3360A>T (p.Leu1120Phe)
c.*3074A>T (n.*3074A>T)
c.3177A>T (p.Leu1059Phe)
c.*1660A>T (n.*1660A>T)
c.*3184A>T (n.*3184A>T)
c.2934A>T (p.Leu978Phe)
c.108A>T (p.Leu36Phe)
c.951A>T (p.Leu317Phe)
c.1010A>T
c.2142A>T (p.Leu714Phe)
c.3270A>T (p.Leu1090Phe)
c.185A>T
c.3450A>T (p.Leu1150Phe)
c.3117A>T (p.Leu1039Phe)
7g.117611805_117611807delCA658822509CFTRc.3364_3366del (p.Thr1122del)
c.*3078_*3080del (n.*3078_*3080del)
c.3181_3183del (p.Thr1061del)
c.*1664_*1666del (n.*1664_*1666del)
c.*3188_*3190del (n.*3188_*3190del)
c.2938_2940del (p.Thr980del)
c.112_114del (p.Thr38del)
c.955_957del (p.Thr319del)
c.1014_1016del
c.2146_2148del (p.Thr716del)
c.3274_3276del (p.Thr1092del)
c.189_191del
c.3454_3456del (p.Thr1152del)
c.3121_3123del (p.Thr1041del)
 ClinVar dbSNP
7g.117611802A>CCA368992625CFTRc.3361A>C (p.Thr1121Pro)
c.*3075A>C (n.*3075A>C)
c.3178A>C (p.Thr1060Pro)
c.*1661A>C (n.*1661A>C)
c.*3185A>C (n.*3185A>C)
c.2935A>C (p.Thr979Pro)
c.109A>C (p.Thr37Pro)
c.952A>C (p.Thr318Pro)
c.1011A>C
c.2143A>C (p.Thr715Pro)
c.3271A>C (p.Thr1091Pro)
c.186A>C
c.3451A>C (p.Thr1151Pro)
c.3118A>C (p.Thr1040Pro)
7g.117611802A>GCA368992623CFTRc.3361A>G (p.Thr1121Ala)
c.*3075A>G (n.*3075A>G)
c.3178A>G (p.Thr1060Ala)
c.*1661A>G (n.*1661A>G)
c.*3185A>G (n.*3185A>G)
c.2935A>G (p.Thr979Ala)
c.109A>G (p.Thr37Ala)
c.952A>G (p.Thr318Ala)
c.1011A>G
c.2143A>G (p.Thr715Ala)
c.3271A>G (p.Thr1091Ala)
c.186A>G
c.3451A>G (p.Thr1151Ala)
c.3118A>G (p.Thr1040Ala)
 gnomAD v4
7g.117611802A>TCA368992624CFTRc.3361A>T (p.Thr1121Ser)
c.*3075A>T (n.*3075A>T)
c.3178A>T (p.Thr1060Ser)
c.*1661A>T (n.*1661A>T)
c.*3185A>T (n.*3185A>T)
c.2935A>T (p.Thr979Ser)
c.109A>T (p.Thr37Ser)
c.952A>T (p.Thr318Ser)
c.1011A>T
c.2143A>T (p.Thr715Ser)
c.3271A>T (p.Thr1091Ser)
c.186A>T
c.3451A>T (p.Thr1151Ser)
c.3118A>T (p.Thr1040Ser)
7g.117611803delCA2573332344CFTRc.3362del (p.Thr1121LysfsTer13)
c.*3076del (n.*3076del)
c.3179del (p.Thr1060LysfsTer13)
c.*1662del (n.*1662del)
c.3362del (p.Thr1121LysfsTer11)
c.*3186del (n.*3186del)
c.2936del (p.Thr979LysfsTer13)
c.110del (p.Thr37LysfsTer13)
c.953del (p.Thr318LysfsTer13)
c.1012del
c.2144del (p.Thr715LysfsTer13)
c.3272del (p.Thr1091LysfsTer13)
c.187del
c.3452del (p.Thr1151LysfsTer13)
c.3119del (p.Thr1040LysfsTer13)
7g.117611803C>ACA368992626CFTRc.3362C>A (p.Thr1121Lys)
c.*3076C>A (n.*3076C>A)
c.3179C>A (p.Thr1060Lys)
c.*1662C>A (n.*1662C>A)
c.*3186C>A (n.*3186C>A)
c.2936C>A (p.Thr979Lys)
c.110C>A (p.Thr37Lys)
c.953C>A (p.Thr318Lys)
c.1012C>A
c.2144C>A (p.Thr715Lys)
c.3272C>A (p.Thr1091Lys)
c.187C>A
c.3452C>A (p.Thr1151Lys)
c.3119C>A (p.Thr1040Lys)
 dbSNP gnomAD v2
7g.117611803C=CA1737387801CFTRc.3362C= (p.Thr1121=)
c.*3076C= (n.*3076C=)
c.3179C= (p.Thr1060=)
c.*1662C= (n.*1662C=)
c.*3186C= (n.*3186C=)
c.2936C= (p.Thr979=)
c.110C= (p.Thr37=)
c.953C= (p.Thr318=)
c.1012C=
c.2144C= (p.Thr715=)
c.3272C= (p.Thr1091=)
c.187C=
c.3452C= (p.Thr1151=)
c.3119C= (p.Thr1040=)
7g.117611803C>GCA368992627CFTRc.3362C>G (p.Thr1121Arg)
c.*3076C>G (n.*3076C>G)
c.3179C>G (p.Thr1060Arg)
c.*1662C>G (n.*1662C>G)
c.*3186C>G (n.*3186C>G)
c.2936C>G (p.Thr979Arg)
c.110C>G (p.Thr37Arg)
c.953C>G (p.Thr318Arg)
c.1012C>G
c.2144C>G (p.Thr715Arg)
c.3272C>G (p.Thr1091Arg)
c.187C>G
c.3452C>G (p.Thr1151Arg)
c.3119C>G (p.Thr1040Arg)
7g.117611803C>TCA368992628CFTRc.3362C>T (p.Thr1121Ile)
c.*3076C>T (n.*3076C>T)
c.3179C>T (p.Thr1060Ile)
c.*1662C>T (n.*1662C>T)
c.*3186C>T (n.*3186C>T)
c.2936C>T (p.Thr979Ile)
c.110C>T (p.Thr37Ile)
c.953C>T (p.Thr318Ile)
c.1012C>T
c.2144C>T (p.Thr715Ile)
c.3272C>T (p.Thr1091Ile)
c.187C>T
c.3452C>T (p.Thr1151Ile)
c.3119C>T (p.Thr1040Ile)
7g.117611803_117611804delinsCACA1737387799CFTRc.3362_3363delinsCA (p.Thr1121=)
c.*3076_*3077delinsCA (n.*3076_*3077delinsCA)
c.3179_3180delinsCA (p.Thr1060=)
c.*1662_*1663delinsCA (n.*1662_*1663delinsCA)
c.*3186_*3187delinsCA (n.*3186_*3187delinsCA)
c.2936_2937delinsCA (p.Thr979=)
c.110_111delinsCA (p.Thr37=)
c.953_954delinsCA (p.Thr318=)
c.1012_1013delinsCA
c.2144_2145delinsCA (p.Thr715=)
c.3272_3273delinsCA (p.Thr1091=)
c.187_188delinsCA
c.3452_3453delinsCA (p.Thr1151=)
c.3119_3120delinsCA (p.Thr1040=)
7g.117611804A>CCA457230114CFTRc.3363A>C (p.Thr1121=)
c.*3077A>C (n.*3077A>C)
c.3180A>C (p.Thr1060=)
c.*1663A>C (n.*1663A>C)
c.*3187A>C (n.*3187A>C)
c.2937A>C (p.Thr979=)
c.111A>C (p.Thr37=)
c.954A>C (p.Thr318=)
c.1013A>C
c.2145A>C (p.Thr715=)
c.3273A>C (p.Thr1091=)
c.188A>C
c.3453A>C (p.Thr1151=)
c.3120A>C (p.Thr1040=)
7g.117611804A>GCA457230115CFTRc.3363A>G (p.Thr1121=)
c.*3077A>G (n.*3077A>G)
c.3180A>G (p.Thr1060=)
c.*1663A>G (n.*1663A>G)
c.*3187A>G (n.*3187A>G)
c.2937A>G (p.Thr979=)
c.111A>G (p.Thr37=)
c.954A>G (p.Thr318=)
c.1013A>G
c.2145A>G (p.Thr715=)
c.3273A>G (p.Thr1091=)
c.188A>G
c.3453A>G (p.Thr1151=)
c.3120A>G (p.Thr1040=)
7g.117611804A>TCA457230116CFTRc.3363A>T (p.Thr1121=)
c.*3077A>T (n.*3077A>T)
c.3180A>T (p.Thr1060=)
c.*1663A>T (n.*1663A>T)
c.*3187A>T (n.*3187A>T)
c.2937A>T (p.Thr979=)
c.111A>T (p.Thr37=)
c.954A>T (p.Thr318=)
c.1013A>T
c.2145A>T (p.Thr715=)
c.3273A>T (p.Thr1091=)
c.188A>T
c.3453A>T (p.Thr1151=)
c.3120A>T (p.Thr1040=)
7g.117611805delCA327154CFTRc.3364del (p.Thr1122GlnfsTer12)
c.*3078del (n.*3078del)
c.3181del (p.Thr1061GlnfsTer12)
c.*1664del (n.*1664del)
c.3364del (p.Thr1122GlnfsTer10)
c.*3188del (n.*3188del)
c.2938del (p.Thr980GlnfsTer12)
c.112del (p.Thr38GlnfsTer12)
c.955del (p.Thr319GlnfsTer12)
c.1014del
c.2146del (p.Thr716GlnfsTer12)
c.3274del (p.Thr1092GlnfsTer12)
c.189del
c.3454del (p.Thr1152GlnfsTer12)
c.3121del (p.Thr1041GlnfsTer12)
 dbSNP
7g.117611805A=CA1737387809CFTRc.3364A= (p.Thr1122=)
c.*3078A= (n.*3078A=)
c.3181A= (p.Thr1061=)
c.*1664A= (n.*1664A=)
c.*3188A= (n.*3188A=)
c.2938A= (p.Thr980=)
c.112A= (p.Thr38=)
c.955A= (p.Thr319=)
c.1014A=
c.2146A= (p.Thr716=)
c.3274A= (p.Thr1092=)
c.189A=
c.3454A= (p.Thr1152=)
c.3121A= (p.Thr1041=)
7g.117611805A>CCA368992629CFTRc.3364A>C (p.Thr1122Pro)
c.*3078A>C (n.*3078A>C)
c.3181A>C (p.Thr1061Pro)
c.*1664A>C (n.*1664A>C)
c.*3188A>C (n.*3188A>C)
c.2938A>C (p.Thr980Pro)
c.112A>C (p.Thr38Pro)
c.955A>C (p.Thr319Pro)
c.1014A>C
c.2146A>C (p.Thr716Pro)
c.3274A>C (p.Thr1092Pro)
c.189A>C
c.3454A>C (p.Thr1152Pro)
c.3121A>C (p.Thr1041Pro)
7g.117611805A>GCA368992630CFTRc.3364A>G (p.Thr1122Ala)
c.*3078A>G (n.*3078A>G)
c.3181A>G (p.Thr1061Ala)
c.*1664A>G (n.*1664A>G)
c.*3188A>G (n.*3188A>G)
c.2938A>G (p.Thr980Ala)
c.112A>G (p.Thr38Ala)
c.955A>G (p.Thr319Ala)
c.1014A>G
c.2146A>G (p.Thr716Ala)
c.3274A>G (p.Thr1092Ala)
c.189A>G
c.3454A>G (p.Thr1152Ala)
c.3121A>G (p.Thr1041Ala)
 ClinVar dbSNP gnomAD v4
7g.117611805A>TCA368992631CFTRc.3364A>T (p.Thr1122Ser)
c.*3078A>T (n.*3078A>T)
c.3181A>T (p.Thr1061Ser)
c.*1664A>T (n.*1664A>T)
c.*3188A>T (n.*3188A>T)
c.2938A>T (p.Thr980Ser)
c.112A>T (p.Thr38Ser)
c.955A>T (p.Thr319Ser)
c.1014A>T
c.2146A>T (p.Thr716Ser)
c.3274A>T (p.Thr1092Ser)
c.189A>T
c.3454A>T (p.Thr1152Ser)
c.3121A>T (p.Thr1041Ser)
7g.117611806delCA2573332390CFTRc.3365del (p.Thr1122LysfsTer12)
c.*3079del (n.*3079del)
c.3182del (p.Thr1061LysfsTer12)
c.*1665del (n.*1665del)
c.3365del (p.Thr1122LysfsTer10)
c.*3189del (n.*3189del)
c.2939del (p.Thr980LysfsTer12)
c.113del (p.Thr38LysfsTer12)
c.956del (p.Thr319LysfsTer12)
c.1015del
c.2147del (p.Thr716LysfsTer12)
c.3275del (p.Thr1092LysfsTer12)
c.190del
c.3455del (p.Thr1152LysfsTer12)
c.3122del (p.Thr1041LysfsTer12)
 gnomAD v4
7g.117611806C>ACA368992632CFTRc.3365C>A (p.Thr1122Lys)
c.*3079C>A (n.*3079C>A)
c.3182C>A (p.Thr1061Lys)
c.*1665C>A (n.*1665C>A)
c.*3189C>A (n.*3189C>A)
c.2939C>A (p.Thr980Lys)
c.113C>A (p.Thr38Lys)
c.956C>A (p.Thr319Lys)
c.1015C>A
c.2147C>A (p.Thr716Lys)
c.3275C>A (p.Thr1092Lys)
c.190C>A
c.3455C>A (p.Thr1152Lys)
c.3122C>A (p.Thr1041Lys)
7g.117611806C>GCA368992633CFTRc.3365C>G (p.Thr1122Arg)
c.*3079C>G (n.*3079C>G)
c.3182C>G (p.Thr1061Arg)
c.*1665C>G (n.*1665C>G)
c.*3189C>G (n.*3189C>G)
c.2939C>G (p.Thr980Arg)
c.113C>G (p.Thr38Arg)
c.956C>G (p.Thr319Arg)
c.1015C>G
c.2147C>G (p.Thr716Arg)
c.3275C>G (p.Thr1092Arg)
c.190C>G
c.3455C>G (p.Thr1152Arg)
c.3122C>G (p.Thr1041Arg)
7g.117611806C>TCA368992634CFTRc.3365C>T (p.Thr1122Ile)
c.*3079C>T (n.*3079C>T)
c.3182C>T (p.Thr1061Ile)
c.*1665C>T (n.*1665C>T)
c.*3189C>T (n.*3189C>T)
c.2939C>T (p.Thr980Ile)
c.113C>T (p.Thr38Ile)
c.956C>T (p.Thr319Ile)
c.1015C>T
c.2147C>T (p.Thr716Ile)
c.3275C>T (p.Thr1092Ile)
c.190C>T
c.3455C>T (p.Thr1152Ile)
c.3122C>T (p.Thr1041Ile)
7g.117611807A>CCA457230117CFTRc.3366A>C (p.Thr1122=)
c.*3080A>C (n.*3080A>C)
c.3183A>C (p.Thr1061=)
c.*1666A>C (n.*1666A>C)
c.*3190A>C (n.*3190A>C)
c.2940A>C (p.Thr980=)
c.114A>C (p.Thr38=)
c.957A>C (p.Thr319=)
c.1016A>C
c.2148A>C (p.Thr716=)
c.3276A>C (p.Thr1092=)
c.191A>C
c.3456A>C (p.Thr1152=)
c.3123A>C (p.Thr1041=)
7g.117611807A>GCA457230118CFTRc.3366A>G (p.Thr1122=)
c.*3080A>G (n.*3080A>G)
c.3183A>G (p.Thr1061=)
c.*1666A>G (n.*1666A>G)
c.*3190A>G (n.*3190A>G)
c.2940A>G (p.Thr980=)
c.114A>G (p.Thr38=)
c.957A>G (p.Thr319=)
c.1016A>G
c.2148A>G (p.Thr716=)
c.3276A>G (p.Thr1092=)
c.191A>G
c.3456A>G (p.Thr1152=)
c.3123A>G (p.Thr1041=)
7g.117611807A>TCA457230119CFTRc.3366A>T (p.Thr1122=)
c.*3080A>T (n.*3080A>T)
c.3183A>T (p.Thr1061=)
c.*1666A>T (n.*1666A>T)
c.*3190A>T (n.*3190A>T)
c.2940A>T (p.Thr980=)
c.114A>T (p.Thr38=)
c.957A>T (p.Thr319=)
c.1016A>T
c.2148A>T (p.Thr716=)
c.3276A>T (p.Thr1092=)
c.191A>T
c.3456A>T (p.Thr1152=)
c.3123A>T (p.Thr1041=)
7g.117611807dupCA2684588445CFTRc.3366dup (p.Gly1123ArgfsTer?)
c.*3080dup (n.*3080dup)
c.3183dup (p.Gly1062ArgfsTer?)
c.*1666dup (n.*1666dup)
c.*3190dup (n.*3190dup)
c.2940dup (p.Gly981ArgfsTer?)
c.114dup (p.Gly39ArgfsTer?)
c.957dup (p.Gly320ArgfsTer?)
c.1016dup
c.2148dup (p.Gly717ArgfsTer?)
c.3276dup (p.Gly1093ArgfsTer?)
c.191dup
c.3456dup (p.Gly1153ArgfsTer?)
c.3123dup (p.Gly1042ArgfsTer?)
 gnomAD v4
7g.117611808G>ACA368992635CFTRc.3367G>A (p.Gly1123Arg)
c.*3081G>A (n.*3081G>A)
c.3184G>A (p.Gly1062Arg)
c.*1667G>A (n.*1667G>A)
c.*3191G>A (n.*3191G>A)
c.2941G>A (p.Gly981Arg)
c.115G>A (p.Gly39Arg)
c.958G>A (p.Gly320Arg)
c.1017G>A
c.2149G>A (p.Gly717Arg)
c.3277G>A (p.Gly1093Arg)
c.192G>A
c.3457G>A (p.Gly1153Arg)
c.3124G>A (p.Gly1042Arg)
7g.117611808G>CCA327157CFTRc.3367G>C (p.Gly1123Arg)
c.*3081G>C (n.*3081G>C)
c.3184G>C (p.Gly1062Arg)
c.*1667G>C (n.*1667G>C)
c.*3191G>C (n.*3191G>C)
c.2941G>C (p.Gly981Arg)
c.115G>C (p.Gly39Arg)
c.958G>C (p.Gly320Arg)
c.1017G>C
c.2149G>C (p.Gly717Arg)
c.3277G>C (p.Gly1093Arg)
c.192G>C
c.3457G>C (p.Gly1153Arg)
c.3124G>C (p.Gly1042Arg)
 ClinVar dbSNP gnomAD v4
7g.117611808G=CA1737387814CFTRc.3367G= (p.Gly1123=)
c.*3081G= (n.*3081G=)
c.3184G= (p.Gly1062=)
c.*1667G= (n.*1667G=)
c.*3191G= (n.*3191G=)
c.2941G= (p.Gly981=)
c.115G= (p.Gly39=)
c.958G= (p.Gly320=)
c.1017G=
c.2149G= (p.Gly717=)
c.3277G= (p.Gly1093=)
c.192G=
c.3457G= (p.Gly1153=)
c.3124G= (p.Gly1042=)
7g.117611808G>TCA368992636CFTRc.3367G>T (p.Gly1123Ter)
c.*3081G>T (n.*3081G>T)
c.3184G>T (p.Gly1062Ter)
c.*1667G>T (n.*1667G>T)
c.*3191G>T (n.*3191G>T)
c.2941G>T (p.Gly981Ter)
c.115G>T (p.Gly39Ter)
c.958G>T (p.Gly320Ter)
c.1017G>T
c.2149G>T (p.Gly717Ter)
c.3277G>T (p.Gly1093Ter)
c.192G>T
c.3457G>T (p.Gly1153Ter)
c.3124G>T (p.Gly1042Ter)
7g.117611809G>ACA368992637CFTRc.3367+1G>A (n.3367+1G>A)
c.*3081+1G>A (n.*3081+1G>A)
c.3184+1G>A (n.3184+1G>A)
c.*1667+1G>A (n.*1667+1G>A)
c.*3191+1G>A (n.*3191+1G>A)
c.2941+1G>A (n.2941+1G>A)
c.115+1G>A (n.115+1G>A)
c.958+1G>A (n.958+1G>A)
c.1017+1G>A
c.2149+1G>A (n.2149+1G>A)
c.3277+1G>A (n.3277+1G>A)
c.192+1G>A
c.3457+1G>A (n.3457+1G>A)
c.3124+1G>A (n.3124+1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117611809G>CCA368992639CFTRc.3367+1G>C (n.3367+1G>C)
c.*3081+1G>C (n.*3081+1G>C)
c.3184+1G>C (n.3184+1G>C)
c.*1667+1G>C (n.*1667+1G>C)
c.*3191+1G>C (n.*3191+1G>C)
c.2941+1G>C (n.2941+1G>C)
c.115+1G>C (n.115+1G>C)
c.958+1G>C (n.958+1G>C)
c.1017+1G>C
c.2149+1G>C (n.2149+1G>C)
c.3277+1G>C (n.3277+1G>C)
c.192+1G>C
c.3457+1G>C (n.3457+1G>C)
c.3124+1G>C (n.3124+1G>C)
7g.117611809G=CA1737387820CFTRc.3367+1G= (n.3367+1G=)
c.*3081+1G= (n.*3081+1G=)
c.3184+1G= (n.3184+1G=)
c.*1667+1G= (n.*1667+1G=)
c.*3191+1G= (n.*3191+1G=)
c.2941+1G= (n.2941+1G=)
c.115+1G= (n.115+1G=)
c.958+1G= (n.958+1G=)
c.1017+1G=
c.2149+1G= (n.2149+1G=)
c.3277+1G= (n.3277+1G=)
c.192+1G=
c.3457+1G= (n.3457+1G=)
c.3124+1G= (n.3124+1G=)
7g.117611809G>TCA368992638CFTRc.3367+1G>T (n.3367+1G>T)
c.*3081+1G>T (n.*3081+1G>T)
c.3184+1G>T (n.3184+1G>T)
c.*1667+1G>T (n.*1667+1G>T)
c.*3191+1G>T (n.*3191+1G>T)
c.2941+1G>T (n.2941+1G>T)
c.115+1G>T (n.115+1G>T)
c.958+1G>T (n.958+1G>T)
c.1017+1G>T
c.2149+1G>T (n.2149+1G>T)
c.3277+1G>T (n.3277+1G>T)
c.192+1G>T
c.3457+1G>T (n.3457+1G>T)
c.3124+1G>T (n.3124+1G>T)
 ClinVar gnomAD v4
7g.117611810T>ACA368992640CFTRc.3367+2T>A (n.3367+2T>A)
c.*3081+2T>A (n.*3081+2T>A)
c.3184+2T>A (n.3184+2T>A)
c.*1667+2T>A (n.*1667+2T>A)
c.*3191+2T>A (n.*3191+2T>A)
c.2941+2T>A (n.2941+2T>A)
c.115+2T>A (n.115+2T>A)
c.958+2T>A (n.958+2T>A)
c.1017+2T>A
c.2149+2T>A (n.2149+2T>A)
c.3277+2T>A (n.3277+2T>A)
c.192+2T>A
c.3457+2T>A (n.3457+2T>A)
c.3124+2T>A (n.3124+2T>A)
 ClinVar dbSNP
7g.117611810T>CCA327155CFTRc.3367+2T>C (n.3367+2T>C)
c.*3081+2T>C (n.*3081+2T>C)
c.3184+2T>C (n.3184+2T>C)
c.*1667+2T>C (n.*1667+2T>C)
c.*3191+2T>C (n.*3191+2T>C)
c.2941+2T>C (n.2941+2T>C)
c.115+2T>C (n.115+2T>C)
c.958+2T>C (n.958+2T>C)
c.1017+2T>C
c.2149+2T>C (n.2149+2T>C)
c.3277+2T>C (n.3277+2T>C)
c.192+2T>C
c.3457+2T>C (n.3457+2T>C)
c.3124+2T>C (n.3124+2T>C)
 dbSNP
7g.117611810T>GCA368992641CFTRc.3367+2T>G (n.3367+2T>G)
c.*3081+2T>G (n.*3081+2T>G)
c.3184+2T>G (n.3184+2T>G)
c.*1667+2T>G (n.*1667+2T>G)
c.*3191+2T>G (n.*3191+2T>G)
c.2941+2T>G (n.2941+2T>G)
c.115+2T>G (n.115+2T>G)
c.958+2T>G (n.958+2T>G)
c.1017+2T>G
c.2149+2T>G (n.2149+2T>G)
c.3277+2T>G (n.3277+2T>G)
c.192+2T>G
c.3457+2T>G (n.3457+2T>G)
c.3124+2T>G (n.3124+2T>G)
7g.117611810T=CA1737387828CFTRc.3367+2T= (n.3367+2T=)
c.*3081+2T= (n.*3081+2T=)
c.3184+2T= (n.3184+2T=)
c.*1667+2T= (n.*1667+2T=)
c.*3191+2T= (n.*3191+2T=)
c.2941+2T= (n.2941+2T=)
c.115+2T= (n.115+2T=)
c.958+2T= (n.958+2T=)
c.1017+2T=
c.2149+2T= (n.2149+2T=)
c.3277+2T= (n.3277+2T=)
c.192+2T=
c.3457+2T= (n.3457+2T=)
c.3124+2T= (n.3124+2T=)
7g.117611811A=CA1737387841CFTRc.3367+3A= (n.3367+3A=)
c.*3081+3A= (n.*3081+3A=)
c.3184+3A= (n.3184+3A=)
c.*1667+3A= (n.*1667+3A=)
c.*3191+3A= (n.*3191+3A=)
c.2941+3A= (n.2941+3A=)
c.115+3A= (n.115+3A=)
c.958+3A= (n.958+3A=)
c.1017+3A=
c.2149+3A= (n.2149+3A=)
c.3277+3A= (n.3277+3A=)
c.192+3A=
c.3457+3A= (n.3457+3A=)
c.3124+3A= (n.3124+3A=)
7g.117611811A>CCA577222638CFTRc.3367+3A>C (n.3367+3A>C)
c.*3081+3A>C (n.*3081+3A>C)
c.3184+3A>C (n.3184+3A>C)
c.*1667+3A>C (n.*1667+3A>C)
c.*3191+3A>C (n.*3191+3A>C)
c.2941+3A>C (n.2941+3A>C)
c.115+3A>C (n.115+3A>C)
c.958+3A>C (n.958+3A>C)
c.1017+3A>C
c.2149+3A>C (n.2149+3A>C)
c.3277+3A>C (n.3277+3A>C)
c.192+3A>C
c.3457+3A>C (n.3457+3A>C)
c.3124+3A>C (n.3124+3A>C)
 dbSNP gnomAD v2 gnomAD v4
7g.117611811A>GCA658822510CFTRc.3367+3A>G (n.3367+3A>G)
c.*3081+3A>G (n.*3081+3A>G)
c.3184+3A>G (n.3184+3A>G)
c.*1667+3A>G (n.*1667+3A>G)
c.*3191+3A>G (n.*3191+3A>G)
c.2941+3A>G (n.2941+3A>G)
c.115+3A>G (n.115+3A>G)
c.958+3A>G (n.958+3A>G)
c.1017+3A>G
c.2149+3A>G (n.2149+3A>G)
c.3277+3A>G (n.3277+3A>G)
c.192+3A>G
c.3457+3A>G (n.3457+3A>G)
c.3124+3A>G (n.3124+3A>G)
 ClinVar dbSNP gnomAD v4
7g.117611812C>GCA2684588446CFTRc.3367+4C>G (n.3367+4C>G)
c.*3081+4C>G (n.*3081+4C>G)
c.3184+4C>G (n.3184+4C>G)
c.*1667+4C>G (n.*1667+4C>G)
c.*3191+4C>G (n.*3191+4C>G)
c.2941+4C>G (n.2941+4C>G)
c.115+4C>G (n.115+4C>G)
c.958+4C>G (n.958+4C>G)
c.1017+4C>G
c.2149+4C>G (n.2149+4C>G)
c.3277+4C>G (n.3277+4C>G)
c.192+4C>G
c.3457+4C>G (n.3457+4C>G)
c.3124+4C>G (n.3124+4C>G)
 gnomAD v4
7g.117611813T>ACA577222639CFTRc.3367+5T>A (n.3367+5T>A)
c.*3081+5T>A (n.*3081+5T>A)
c.3184+5T>A (n.3184+5T>A)
c.*1667+5T>A (n.*1667+5T>A)
c.*3191+5T>A (n.*3191+5T>A)
c.2941+5T>A (n.2941+5T>A)
c.115+5T>A (n.115+5T>A)
c.958+5T>A (n.958+5T>A)
c.1017+5T>A
c.2149+5T>A (n.2149+5T>A)
c.3277+5T>A (n.3277+5T>A)
c.192+5T>A
c.3457+5T>A (n.3457+5T>A)
c.3124+5T>A (n.3124+5T>A)
 dbSNP gnomAD v2 gnomAD v4
7g.117611813T=CA1737387849CFTRc.3367+5T= (n.3367+5T=)
c.*3081+5T= (n.*3081+5T=)
c.3184+5T= (n.3184+5T=)
c.*1667+5T= (n.*1667+5T=)
c.*3191+5T= (n.*3191+5T=)
c.2941+5T= (n.2941+5T=)
c.115+5T= (n.115+5T=)
c.958+5T= (n.958+5T=)
c.1017+5T=
c.2149+5T= (n.2149+5T=)
c.3277+5T= (n.3277+5T=)
c.192+5T=
c.3457+5T= (n.3457+5T=)
c.3124+5T= (n.3124+5T=)
7g.117611814A=CA1737387855CFTRc.3367+6A= (n.3367+6A=)
c.*3081+6A= (n.*3081+6A=)
c.3184+6A= (n.3184+6A=)
c.*1667+6A= (n.*1667+6A=)
c.*3191+6A= (n.*3191+6A=)
c.2941+6A= (n.2941+6A=)
c.115+6A= (n.115+6A=)
c.958+6A= (n.958+6A=)
c.1017+6A=
c.2149+6A= (n.2149+6A=)
c.3277+6A= (n.3277+6A=)
c.192+6A=
c.3457+6A= (n.3457+6A=)
c.3124+6A= (n.3124+6A=)
7g.117611814A>GCA327156CFTRc.3367+6A>G (n.3367+6A>G)
c.*3081+6A>G (n.*3081+6A>G)
c.3184+6A>G (n.3184+6A>G)
c.*1667+6A>G (n.*1667+6A>G)
c.*3191+6A>G (n.*3191+6A>G)
c.2941+6A>G (n.2941+6A>G)
c.115+6A>G (n.115+6A>G)
c.958+6A>G (n.958+6A>G)
c.1017+6A>G
c.2149+6A>G (n.2149+6A>G)
c.3277+6A>G (n.3277+6A>G)
c.192+6A>G
c.3457+6A>G (n.3457+6A>G)
c.3124+6A>G (n.3124+6A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611815T>CCA577222640CFTRc.3367+7T>C (n.3367+7T>C)
c.*3081+7T>C (n.*3081+7T>C)
c.3184+7T>C (n.3184+7T>C)
c.*1667+7T>C (n.*1667+7T>C)
c.*3191+7T>C (n.*3191+7T>C)
c.2941+7T>C (n.2941+7T>C)
c.115+7T>C (n.115+7T>C)
c.958+7T>C (n.958+7T>C)
c.1017+7T>C
c.2149+7T>C (n.2149+7T>C)
c.3277+7T>C (n.3277+7T>C)
c.192+7T>C
c.3457+7T>C (n.3457+7T>C)
c.3124+7T>C (n.3124+7T>C)
 dbSNP gnomAD v2 gnomAD v4
7g.117611815T>GCA2695208439CFTRc.3367+7T>G (n.3367+7T>G)
c.*3081+7T>G (n.*3081+7T>G)
c.3184+7T>G (n.3184+7T>G)
c.*1667+7T>G (n.*1667+7T>G)
c.*3191+7T>G (n.*3191+7T>G)
c.2941+7T>G (n.2941+7T>G)
c.115+7T>G (n.115+7T>G)
c.958+7T>G (n.958+7T>G)
c.1017+7T>G
c.2149+7T>G (n.2149+7T>G)
c.3277+7T>G (n.3277+7T>G)
c.192+7T>G
c.3457+7T>G (n.3457+7T>G)
c.3124+7T>G (n.3124+7T>G)
7g.117611815T=CA1737387858CFTRc.3367+7T= (n.3367+7T=)
c.*3081+7T= (n.*3081+7T=)
c.3184+7T= (n.3184+7T=)
c.*1667+7T= (n.*1667+7T=)
c.*3191+7T= (n.*3191+7T=)
c.2941+7T= (n.2941+7T=)
c.115+7T= (n.115+7T=)
c.958+7T= (n.958+7T=)
c.1017+7T=
c.2149+7T= (n.2149+7T=)
c.3277+7T= (n.3277+7T=)
c.192+7T=
c.3457+7T= (n.3457+7T=)
c.3124+7T= (n.3124+7T=)
7g.117611816G>ACA2499218691CFTRc.3367+8G>A (n.3367+8G>A)
c.*3081+8G>A (n.*3081+8G>A)
c.3184+8G>A (n.3184+8G>A)
c.*1667+8G>A (n.*1667+8G>A)
c.*3191+8G>A (n.*3191+8G>A)
c.2941+8G>A (n.2941+8G>A)
c.115+8G>A (n.115+8G>A)
c.958+8G>A (n.958+8G>A)
c.1017+8G>A
c.2149+8G>A (n.2149+8G>A)
c.3277+8G>A (n.3277+8G>A)
c.192+8G>A
c.3457+8G>A (n.3457+8G>A)
c.3124+8G>A (n.3124+8G>A)
 ClinVar dbSNP
7g.117611816G>TCA2684588447CFTRc.3367+8G>T (n.3367+8G>T)
c.*3081+8G>T (n.*3081+8G>T)
c.3184+8G>T (n.3184+8G>T)
c.*1667+8G>T (n.*1667+8G>T)
c.*3191+8G>T (n.*3191+8G>T)
c.2941+8G>T (n.2941+8G>T)
c.115+8G>T (n.115+8G>T)
c.958+8G>T (n.958+8G>T)
c.1017+8G>T
c.2149+8G>T (n.2149+8G>T)
c.3277+8G>T (n.3277+8G>T)
c.192+8G>T
c.3457+8G>T (n.3457+8G>T)
c.3124+8G>T (n.3124+8G>T)
 gnomAD v4
7g.117611817A>GCA2697557586CFTRc.3367+9A>G (n.3367+9A>G)
c.*3081+9A>G (n.*3081+9A>G)
c.3184+9A>G (n.3184+9A>G)
c.*1667+9A>G (n.*1667+9A>G)
c.*3191+9A>G (n.*3191+9A>G)
c.2941+9A>G (n.2941+9A>G)
c.115+9A>G (n.115+9A>G)
c.958+9A>G (n.958+9A>G)
c.1017+9A>G
c.2149+9A>G (n.2149+9A>G)
c.3277+9A>G (n.3277+9A>G)
c.192+9A>G
c.3457+9A>G (n.3457+9A>G)
c.3124+9A>G (n.3124+9A>G)
 ClinVar
7g.117611818A>GCA2684588448CFTRc.3367+10A>G (n.3367+10A>G)
c.*3081+10A>G (n.*3081+10A>G)
c.3184+10A>G (n.3184+10A>G)
c.*1667+10A>G (n.*1667+10A>G)
c.*3191+10A>G (n.*3191+10A>G)
c.2941+10A>G (n.2941+10A>G)
c.115+10A>G (n.115+10A>G)
c.958+10A>G (n.958+10A>G)
c.1017+10A>G
c.2149+10A>G (n.2149+10A>G)
c.3277+10A>G (n.3277+10A>G)
c.192+10A>G
c.3457+10A>G (n.3457+10A>G)
c.3124+10A>G (n.3124+10A>G)
 ClinVar gnomAD v4
7g.117611818A>TCA2499218692CFTRc.3367+10A>T (n.3367+10A>T)
c.*3081+10A>T (n.*3081+10A>T)
c.3184+10A>T (n.3184+10A>T)
c.*1667+10A>T (n.*1667+10A>T)
c.*3191+10A>T (n.*3191+10A>T)
c.2941+10A>T (n.2941+10A>T)
c.115+10A>T (n.115+10A>T)
c.958+10A>T (n.958+10A>T)
c.1017+10A>T
c.2149+10A>T (n.2149+10A>T)
c.3277+10A>T (n.3277+10A>T)
c.192+10A>T
c.3457+10A>T (n.3457+10A>T)
c.3124+10A>T (n.3124+10A>T)
 ClinVar dbSNP
7g.117611819C>ACA2684588449CFTRc.3367+11C>A (n.3367+11C>A)
c.*3081+11C>A (n.*3081+11C>A)
c.3184+11C>A (n.3184+11C>A)
c.*1667+11C>A (n.*1667+11C>A)
c.*3191+11C>A (n.*3191+11C>A)
c.2941+11C>A (n.2941+11C>A)
c.115+11C>A (n.115+11C>A)
c.958+11C>A (n.958+11C>A)
c.1017+11C>A
c.2149+11C>A (n.2149+11C>A)
c.3277+11C>A (n.3277+11C>A)
c.192+11C>A
c.3457+11C>A (n.3457+11C>A)
c.3124+11C>A (n.3124+11C>A)
 gnomAD v4
7g.117611821C>TCA2777588354CFTRc.3367+13C>T (n.3367+13C>T)
c.*3081+13C>T (n.*3081+13C>T)
c.3184+13C>T (n.3184+13C>T)
c.*1667+13C>T (n.*1667+13C>T)
c.*3191+13C>T (n.*3191+13C>T)
c.2941+13C>T (n.2941+13C>T)
c.115+13C>T (n.115+13C>T)
c.958+13C>T (n.958+13C>T)
c.1017+13C>T
c.2149+13C>T (n.2149+13C>T)
c.3277+13C>T (n.3277+13C>T)
c.192+13C>T
c.3457+13C>T (n.3457+13C>T)
c.3124+13C>T (n.3124+13C>T)
7g.117611822A>GCA2684588450CFTRc.3367+14A>G (n.3367+14A>G)
c.*3081+14A>G (n.*3081+14A>G)
c.3184+14A>G (n.3184+14A>G)
c.*1667+14A>G (n.*1667+14A>G)
c.*3191+14A>G (n.*3191+14A>G)
c.2941+14A>G (n.2941+14A>G)
c.115+14A>G (n.115+14A>G)
c.958+14A>G (n.958+14A>G)
c.1017+14A>G
c.2149+14A>G (n.2149+14A>G)
c.3277+14A>G (n.3277+14A>G)
c.192+14A>G
c.3457+14A>G (n.3457+14A>G)
c.3124+14A>G (n.3124+14A>G)
 gnomAD v4
7g.117611823_117611825delCA2579000273CFTRc.3367+15_3367+17del (n.3367+15_3367+17del)
c.*3081+15_*3081+17del (n.*3081+15_*3081+17del)
c.3184+15_3184+17del (n.3184+15_3184+17del)
c.*1667+15_*1667+17del (n.*1667+15_*1667+17del)
c.*3191+15_*3191+17del (n.*3191+15_*3191+17del)
c.2941+15_2941+17del (n.2941+15_2941+17del)
c.115+15_115+17del (n.115+15_115+17del)
c.958+15_958+17del (n.958+15_958+17del)
c.1017+15_1017+17del
c.2149+15_2149+17del (n.2149+15_2149+17del)
c.3277+15_3277+17del (n.3277+15_3277+17del)
c.192+15_192+17del
c.3457+15_3457+17del (n.3457+15_3457+17del)
c.3124+15_3124+17del (n.3124+15_3124+17del)
7g.117611823T>CCA577222641CFTRc.3367+15T>C (n.3367+15T>C)
c.*3081+15T>C (n.*3081+15T>C)
c.3184+15T>C (n.3184+15T>C)
c.*1667+15T>C (n.*1667+15T>C)
c.*3191+15T>C (n.*3191+15T>C)
c.2941+15T>C (n.2941+15T>C)
c.115+15T>C (n.115+15T>C)
c.958+15T>C (n.958+15T>C)
c.1017+15T>C
c.2149+15T>C (n.2149+15T>C)
c.3277+15T>C (n.3277+15T>C)
c.192+15T>C
c.3457+15T>C (n.3457+15T>C)
c.3124+15T>C (n.3124+15T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117611823T=CA1737387860CFTRc.3367+15T= (n.3367+15T=)
c.*3081+15T= (n.*3081+15T=)
c.3184+15T= (n.3184+15T=)
c.*1667+15T= (n.*1667+15T=)
c.*3191+15T= (n.*3191+15T=)
c.2941+15T= (n.2941+15T=)
c.115+15T= (n.115+15T=)
c.958+15T= (n.958+15T=)
c.1017+15T=
c.2149+15T= (n.2149+15T=)
c.3277+15T= (n.3277+15T=)
c.192+15T=
c.3457+15T= (n.3457+15T=)
c.3124+15T= (n.3124+15T=)
7g.117611826_117611831delCA2739279039CFTRc.3367+18_3367+23del (n.3367+18_3367+23del)
c.*3081+18_*3081+23del (n.*3081+18_*3081+23del)
c.3184+18_3184+23del (n.3184+18_3184+23del)
c.*1667+18_*1667+23del (n.*1667+18_*1667+23del)
c.*3191+18_*3191+23del (n.*3191+18_*3191+23del)
c.2941+18_2941+23del (n.2941+18_2941+23del)
c.115+18_115+23del (n.115+18_115+23del)
c.958+18_958+23del (n.958+18_958+23del)
c.1017+18_1017+23del
c.2149+18_2149+23del (n.2149+18_2149+23del)
c.3277+18_3277+23del (n.3277+18_3277+23del)
c.192+18_192+23del
c.3457+18_3457+23del (n.3457+18_3457+23del)
c.3124+18_3124+23del (n.3124+18_3124+23del)
 ClinVar
7g.117611825A=CA1737387870CFTRc.3367+17A= (n.3367+17A=)
c.*3081+17A= (n.*3081+17A=)
c.3184+17A= (n.3184+17A=)
c.*1667+17A= (n.*1667+17A=)
c.*3191+17A= (n.*3191+17A=)
c.2941+17A= (n.2941+17A=)
c.115+17A= (n.115+17A=)
c.958+17A= (n.958+17A=)
c.1017+17A=
c.2149+17A= (n.2149+17A=)
c.3277+17A= (n.3277+17A=)
c.192+17A=
c.3457+17A= (n.3457+17A=)
c.3124+17A= (n.3124+17A=)
7g.117611825A>GCA1106311997CFTRc.3367+17A>G (n.3367+17A>G)
c.*3081+17A>G (n.*3081+17A>G)
c.3184+17A>G (n.3184+17A>G)
c.*1667+17A>G (n.*1667+17A>G)
c.*3191+17A>G (n.*3191+17A>G)
c.2941+17A>G (n.2941+17A>G)
c.115+17A>G (n.115+17A>G)
c.958+17A>G (n.958+17A>G)
c.1017+17A>G
c.2149+17A>G (n.2149+17A>G)
c.3277+17A>G (n.3277+17A>G)
c.192+17A>G
c.3457+17A>G (n.3457+17A>G)
c.3124+17A>G (n.3124+17A>G)
 dbSNP gnomAD v3 gnomAD v4
7g.117611825A>TCA2684588451CFTRc.3367+17A>T (n.3367+17A>T)
c.*3081+17A>T (n.*3081+17A>T)
c.3184+17A>T (n.3184+17A>T)
c.*1667+17A>T (n.*1667+17A>T)
c.*3191+17A>T (n.*3191+17A>T)
c.2941+17A>T (n.2941+17A>T)
c.115+17A>T (n.115+17A>T)
c.958+17A>T (n.958+17A>T)
c.1017+17A>T
c.2149+17A>T (n.2149+17A>T)
c.3277+17A>T (n.3277+17A>T)
c.192+17A>T
c.3457+17A>T (n.3457+17A>T)
c.3124+17A>T (n.3124+17A>T)
 gnomAD v4
7g.117611826A=CA1737387872CFTRc.3367+18A= (n.3367+18A=)
c.*3081+18A= (n.*3081+18A=)
c.3184+18A= (n.3184+18A=)
c.*1667+18A= (n.*1667+18A=)
c.*3191+18A= (n.*3191+18A=)
c.2941+18A= (n.2941+18A=)
c.115+18A= (n.115+18A=)
c.958+18A= (n.958+18A=)
c.1017+18A=
c.2149+18A= (n.2149+18A=)
c.3277+18A= (n.3277+18A=)
c.192+18A=
c.3457+18A= (n.3457+18A=)
c.3124+18A= (n.3124+18A=)
7g.117611826A>GCA4451430CFTRc.3367+18A>G (n.3367+18A>G)
c.*3081+18A>G (n.*3081+18A>G)
c.3184+18A>G (n.3184+18A>G)
c.*1667+18A>G (n.*1667+18A>G)
c.*3191+18A>G (n.*3191+18A>G)
c.2941+18A>G (n.2941+18A>G)
c.115+18A>G (n.115+18A>G)
c.958+18A>G (n.958+18A>G)
c.1017+18A>G
c.2149+18A>G (n.2149+18A>G)
c.3277+18A>G (n.3277+18A>G)
c.192+18A>G
c.3457+18A>G (n.3457+18A>G)
c.3124+18A>G (n.3124+18A>G)
 dbSNP ExAC
7g.117611827C>ACA2579000274CFTRc.3367+19C>A (n.3367+19C>A)
c.*3081+19C>A (n.*3081+19C>A)
c.3184+19C>A (n.3184+19C>A)
c.*1667+19C>A (n.*1667+19C>A)
c.*3191+19C>A (n.*3191+19C>A)
c.2941+19C>A (n.2941+19C>A)
c.115+19C>A (n.115+19C>A)
c.958+19C>A (n.958+19C>A)
c.1017+19C>A
c.2149+19C>A (n.2149+19C>A)
c.3277+19C>A (n.3277+19C>A)
c.192+19C>A
c.3457+19C>A (n.3457+19C>A)
c.3124+19C>A (n.3124+19C>A)
 gnomAD v4
7g.117611827C>TCA2739279040CFTRc.3367+19C>T (n.3367+19C>T)
c.*3081+19C>T (n.*3081+19C>T)
c.3184+19C>T (n.3184+19C>T)
c.*1667+19C>T (n.*1667+19C>T)
c.*3191+19C>T (n.*3191+19C>T)
c.2941+19C>T (n.2941+19C>T)
c.115+19C>T (n.115+19C>T)
c.958+19C>T (n.958+19C>T)
c.1017+19C>T
c.2149+19C>T (n.2149+19C>T)
c.3277+19C>T (n.3277+19C>T)
c.192+19C>T
c.3457+19C>T (n.3457+19C>T)
c.3124+19C>T (n.3124+19C>T)
 ClinVar
7g.117611828_117611829insGTCA2579000275CFTRc.3367+20_3367+21insGT (n.3367+20_3367+21insGT)
c.*3081+20_*3081+21insGT (n.*3081+20_*3081+21insGT)
c.3184+20_3184+21insGT (n.3184+20_3184+21insGT)
c.*1667+20_*1667+21insGT (n.*1667+20_*1667+21insGT)
c.*3191+20_*3191+21insGT (n.*3191+20_*3191+21insGT)
c.2941+20_2941+21insGT (n.2941+20_2941+21insGT)
c.115+20_115+21insGT (n.115+20_115+21insGT)
c.958+20_958+21insGT (n.958+20_958+21insGT)
c.1017+20_1017+21insGT
c.2149+20_2149+21insGT (n.2149+20_2149+21insGT)
c.3277+20_3277+21insGT (n.3277+20_3277+21insGT)
c.192+20_192+21insGT
c.3457+20_3457+21insGT (n.3457+20_3457+21insGT)
c.3124+20_3124+21insGT (n.3124+20_3124+21insGT)
7g.117611830dupCA2684588452CFTRc.3367+22dup (n.3367+22dup)
c.*3081+22dup (n.*3081+22dup)
c.3184+22dup (n.3184+22dup)
c.*1667+22dup (n.*1667+22dup)
c.*3191+22dup (n.*3191+22dup)
c.2941+22dup (n.2941+22dup)
c.115+22dup (n.115+22dup)
c.958+22dup (n.958+22dup)
c.1017+22dup
c.2149+22dup (n.2149+22dup)
c.3277+22dup (n.3277+22dup)
c.192+22dup
c.3457+22dup (n.3457+22dup)
c.3124+22dup (n.3124+22dup)
 gnomAD v4
7g.117611829_117611833delinsTTAGCCA1737387874CFTRc.3367+21_3367+25delinsTTAGC (n.3367+21_3367+25delinsTTAGC)
c.*3081+21_*3081+25delinsTTAGC (n.*3081+21_*3081+25delinsTTAGC)
c.3184+21_3184+25delinsTTAGC (n.3184+21_3184+25delinsTTAGC)
c.*1667+21_*1667+25delinsTTAGC (n.*1667+21_*1667+25delinsTTAGC)
c.*3191+21_*3191+25delinsTTAGC (n.*3191+21_*3191+25delinsTTAGC)
c.2941+21_2941+25delinsTTAGC (n.2941+21_2941+25delinsTTAGC)
c.115+21_115+25delinsTTAGC (n.115+21_115+25delinsTTAGC)
c.958+21_958+25delinsTTAGC (n.958+21_958+25delinsTTAGC)
c.1017+21_1017+25delinsTTAGC
c.2149+21_2149+25delinsTTAGC (n.2149+21_2149+25delinsTTAGC)
c.3277+21_3277+25delinsTTAGC (n.3277+21_3277+25delinsTTAGC)
c.192+21_192+25delinsTTAGC
c.3457+21_3457+25delinsTTAGC (n.3457+21_3457+25delinsTTAGC)
c.3124+21_3124+25delinsTTAGC (n.3124+21_3124+25delinsTTAGC)
7g.117611830T>CCA4451431CFTRc.3367+22T>C (n.3367+22T>C)
c.*3081+22T>C (n.*3081+22T>C)
c.3184+22T>C (n.3184+22T>C)
c.*1667+22T>C (n.*1667+22T>C)
c.*3191+22T>C (n.*3191+22T>C)
c.2941+22T>C (n.2941+22T>C)
c.115+22T>C (n.115+22T>C)
c.958+22T>C (n.958+22T>C)
c.1017+22T>C
c.2149+22T>C (n.2149+22T>C)
c.3277+22T>C (n.3277+22T>C)
c.192+22T>C
c.3457+22T>C (n.3457+22T>C)
c.3124+22T>C (n.3124+22T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117611830T=CA1737387878CFTRc.3367+22T= (n.3367+22T=)
c.*3081+22T= (n.*3081+22T=)
c.3184+22T= (n.3184+22T=)
c.*1667+22T= (n.*1667+22T=)
c.*3191+22T= (n.*3191+22T=)
c.2941+22T= (n.2941+22T=)
c.115+22T= (n.115+22T=)
c.958+22T= (n.958+22T=)
c.1017+22T=
c.2149+22T= (n.2149+22T=)
c.3277+22T= (n.3277+22T=)
c.192+22T=
c.3457+22T= (n.3457+22T=)
c.3124+22T= (n.3124+22T=)
7g.117611832_117611835delCA832119715CFTRc.3367+24_3367+27del (n.3367+24_3367+27del)
c.*3081+24_*3081+27del (n.*3081+24_*3081+27del)
c.3184+24_3184+27del (n.3184+24_3184+27del)
c.*1667+24_*1667+27del (n.*1667+24_*1667+27del)
c.*3191+24_*3191+27del (n.*3191+24_*3191+27del)
c.2941+24_2941+27del (n.2941+24_2941+27del)
c.115+24_115+27del (n.115+24_115+27del)
c.958+24_958+27del (n.958+24_958+27del)
c.1017+24_1017+27del
c.2149+24_2149+27del (n.2149+24_2149+27del)
c.3277+24_3277+27del (n.3277+24_3277+27del)
c.192+24_192+27del
c.3457+24_3457+27del (n.3457+24_3457+27del)
c.3124+24_3124+27del (n.3124+24_3124+27del)
 dbSNP gnomAD v3 gnomAD v4
7g.117611831A>GCA2684588453CFTRc.3367+23A>G (n.3367+23A>G)
c.*3081+23A>G (n.*3081+23A>G)
c.3184+23A>G (n.3184+23A>G)
c.*1667+23A>G (n.*1667+23A>G)
c.*3191+23A>G (n.*3191+23A>G)
c.2941+23A>G (n.2941+23A>G)
c.115+23A>G (n.115+23A>G)
c.958+23A>G (n.958+23A>G)
c.1017+23A>G
c.2149+23A>G (n.2149+23A>G)
c.3277+23A>G (n.3277+23A>G)
c.192+23A>G
c.3457+23A>G (n.3457+23A>G)
c.3124+23A>G (n.3124+23A>G)
 gnomAD v4
7g.117611832G>ACA4451432CFTRc.3367+24G>A (n.3367+24G>A)
c.*3081+24G>A (n.*3081+24G>A)
c.3184+24G>A (n.3184+24G>A)
c.*1667+24G>A (n.*1667+24G>A)
c.*3191+24G>A (n.*3191+24G>A)
c.2941+24G>A (n.2941+24G>A)
c.115+24G>A (n.115+24G>A)
c.958+24G>A (n.958+24G>A)
c.1017+24G>A
c.2149+24G>A (n.2149+24G>A)
c.3277+24G>A (n.3277+24G>A)
c.192+24G>A
c.3457+24G>A (n.3457+24G>A)
c.3124+24G>A (n.3124+24G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611832G=CA1737387884CFTRc.3367+24G= (n.3367+24G=)
c.*3081+24G= (n.*3081+24G=)
c.3184+24G= (n.3184+24G=)
c.*1667+24G= (n.*1667+24G=)
c.*3191+24G= (n.*3191+24G=)
c.2941+24G= (n.2941+24G=)
c.115+24G= (n.115+24G=)
c.958+24G= (n.958+24G=)
c.1017+24G=
c.2149+24G= (n.2149+24G=)
c.3277+24G= (n.3277+24G=)
c.192+24G=
c.3457+24G= (n.3457+24G=)
c.3124+24G= (n.3124+24G=)
7g.117611833C>ACA1737387888CFTRc.3367+25C>A (n.3367+25C>A)
c.*3081+25C>A (n.*3081+25C>A)
c.3184+25C>A (n.3184+25C>A)
c.*1667+25C>A (n.*1667+25C>A)
c.*3191+25C>A (n.*3191+25C>A)
c.2941+25C>A (n.2941+25C>A)
c.115+25C>A (n.115+25C>A)
c.958+25C>A (n.958+25C>A)
c.1017+25C>A
c.2149+25C>A (n.2149+25C>A)
c.3277+25C>A (n.3277+25C>A)
c.192+25C>A
c.3457+25C>A (n.3457+25C>A)
c.3124+25C>A (n.3124+25C>A)
 dbSNP gnomAD v4
7g.117611833C=CA1737387886CFTRc.3367+25C= (n.3367+25C=)
c.*3081+25C= (n.*3081+25C=)
c.3184+25C= (n.3184+25C=)
c.*1667+25C= (n.*1667+25C=)
c.*3191+25C= (n.*3191+25C=)
c.2941+25C= (n.2941+25C=)
c.115+25C= (n.115+25C=)
c.958+25C= (n.958+25C=)
c.1017+25C=
c.2149+25C= (n.2149+25C=)
c.3277+25C= (n.3277+25C=)
c.192+25C=
c.3457+25C= (n.3457+25C=)
c.3124+25C= (n.3124+25C=)
7g.117611835A>GCA2777588358CFTRc.3367+27A>G (n.3367+27A>G)
c.*3081+27A>G (n.*3081+27A>G)
c.3184+27A>G (n.3184+27A>G)
c.*1667+27A>G (n.*1667+27A>G)
c.*3191+27A>G (n.*3191+27A>G)
c.2941+27A>G (n.2941+27A>G)
c.115+27A>G (n.115+27A>G)
c.958+27A>G (n.958+27A>G)
c.1017+27A>G
c.2149+27A>G (n.2149+27A>G)
c.3277+27A>G (n.3277+27A>G)
c.192+27A>G
c.3457+27A>G (n.3457+27A>G)
c.3124+27A>G (n.3124+27A>G)
7g.117611837G>ACA2684588454CFTRc.3367+29G>A (n.3367+29G>A)
c.*3081+29G>A (n.*3081+29G>A)
c.3184+29G>A (n.3184+29G>A)
c.*1667+29G>A (n.*1667+29G>A)
c.*3191+29G>A (n.*3191+29G>A)
c.2941+29G>A (n.2941+29G>A)
c.115+29G>A (n.115+29G>A)
c.958+29G>A (n.958+29G>A)
c.1017+29G>A
c.2149+29G>A (n.2149+29G>A)
c.3277+29G>A (n.3277+29G>A)
c.192+29G>A
c.3457+29G>A (n.3457+29G>A)
c.3124+29G>A (n.3124+29G>A)
 gnomAD v4
7g.117611838C>ACA2579000276CFTRc.3367+30C>A (n.3367+30C>A)
c.*3081+30C>A (n.*3081+30C>A)
c.3184+30C>A (n.3184+30C>A)
c.*1667+30C>A (n.*1667+30C>A)
c.*3191+30C>A (n.*3191+30C>A)
c.2941+30C>A (n.2941+30C>A)
c.115+30C>A (n.115+30C>A)
c.958+30C>A (n.958+30C>A)
c.1017+30C>A
c.2149+30C>A (n.2149+30C>A)
c.3277+30C>A (n.3277+30C>A)
c.192+30C>A
c.3457+30C>A (n.3457+30C>A)
c.3124+30C>A (n.3124+30C>A)
 dbSNP gnomAD v3 gnomAD v4
7g.117611840T>CCA2684588455CFTRc.3367+32T>C (n.3367+32T>C)
c.*3081+32T>C (n.*3081+32T>C)
c.3184+32T>C (n.3184+32T>C)
c.*1667+32T>C (n.*1667+32T>C)
c.*3191+32T>C (n.*3191+32T>C)
c.2941+32T>C (n.2941+32T>C)
c.115+32T>C (n.115+32T>C)
c.958+32T>C (n.958+32T>C)
c.1017+32T>C
c.2149+32T>C (n.2149+32T>C)
c.3277+32T>C (n.3277+32T>C)
c.192+32T>C
c.3457+32T>C (n.3457+32T>C)
c.3124+32T>C (n.3124+32T>C)
 gnomAD v4
7g.117611841T>ACA2684588456CFTRc.3367+33T>A (n.3367+33T>A)
c.*3081+33T>A (n.*3081+33T>A)
c.3184+33T>A (n.3184+33T>A)
c.*1667+33T>A (n.*1667+33T>A)
c.*3191+33T>A (n.*3191+33T>A)
c.2941+33T>A (n.2941+33T>A)
c.115+33T>A (n.115+33T>A)
c.958+33T>A (n.958+33T>A)
c.1017+33T>A
c.2149+33T>A (n.2149+33T>A)
c.3277+33T>A (n.3277+33T>A)
c.192+33T>A
c.3457+33T>A (n.3457+33T>A)
c.3124+33T>A (n.3124+33T>A)
 gnomAD v4
7g.117611841T>CCA1106311999CFTRc.3367+33T>C (n.3367+33T>C)
c.*3081+33T>C (n.*3081+33T>C)
c.3184+33T>C (n.3184+33T>C)
c.*1667+33T>C (n.*1667+33T>C)
c.*3191+33T>C (n.*3191+33T>C)
c.2941+33T>C (n.2941+33T>C)
c.115+33T>C (n.115+33T>C)
c.958+33T>C (n.958+33T>C)
c.1017+33T>C
c.2149+33T>C (n.2149+33T>C)
c.3277+33T>C (n.3277+33T>C)
c.192+33T>C
c.3457+33T>C (n.3457+33T>C)
c.3124+33T>C (n.3124+33T>C)
 dbSNP gnomAD v3 gnomAD v4
7g.117611841T>GCA2684588457CFTRc.3367+33T>G (n.3367+33T>G)
c.*3081+33T>G (n.*3081+33T>G)
c.3184+33T>G (n.3184+33T>G)
c.*1667+33T>G (n.*1667+33T>G)
c.*3191+33T>G (n.*3191+33T>G)
c.2941+33T>G (n.2941+33T>G)
c.115+33T>G (n.115+33T>G)
c.958+33T>G (n.958+33T>G)
c.1017+33T>G
c.2149+33T>G (n.2149+33T>G)
c.3277+33T>G (n.3277+33T>G)
c.192+33T>G
c.3457+33T>G (n.3457+33T>G)
c.3124+33T>G (n.3124+33T>G)
 gnomAD v4
7g.117611841T=CA1737387895CFTRc.3367+33T= (n.3367+33T=)
c.*3081+33T= (n.*3081+33T=)
c.3184+33T= (n.3184+33T=)
c.*1667+33T= (n.*1667+33T=)
c.*3191+33T= (n.*3191+33T=)
c.2941+33T= (n.2941+33T=)
c.115+33T= (n.115+33T=)
c.958+33T= (n.958+33T=)
c.1017+33T=
c.2149+33T= (n.2149+33T=)
c.3277+33T= (n.3277+33T=)
c.192+33T=
c.3457+33T= (n.3457+33T=)
c.3124+33T= (n.3124+33T=)
7g.117611842T>ACA2579000277CFTRc.3367+34T>A (n.3367+34T>A)
c.*3081+34T>A (n.*3081+34T>A)
c.3184+34T>A (n.3184+34T>A)
c.*1667+34T>A (n.*1667+34T>A)
c.*3191+34T>A (n.*3191+34T>A)
c.2941+34T>A (n.2941+34T>A)
c.115+34T>A (n.115+34T>A)
c.958+34T>A (n.958+34T>A)
c.1017+34T>A
c.2149+34T>A (n.2149+34T>A)
c.3277+34T>A (n.3277+34T>A)
c.192+34T>A
c.3457+34T>A (n.3457+34T>A)
c.3124+34T>A (n.3124+34T>A)
 gnomAD v4
7g.117611843A=CA1737387902CFTRc.3367+35A= (n.3367+35A=)
c.*3081+35A= (n.*3081+35A=)
c.3184+35A= (n.3184+35A=)
c.*1667+35A= (n.*1667+35A=)
c.*3191+35A= (n.*3191+35A=)
c.2941+35A= (n.2941+35A=)
c.115+35A= (n.115+35A=)
c.958+35A= (n.958+35A=)
c.1017+35A=
c.2149+35A= (n.2149+35A=)
c.3277+35A= (n.3277+35A=)
c.192+35A=
c.3457+35A= (n.3457+35A=)
c.3124+35A= (n.3124+35A=)
7g.117611843A>CCA4451433CFTRc.3367+35A>C (n.3367+35A>C)
c.*3081+35A>C (n.*3081+35A>C)
c.3184+35A>C (n.3184+35A>C)
c.*1667+35A>C (n.*1667+35A>C)
c.*3191+35A>C (n.*3191+35A>C)
c.2941+35A>C (n.2941+35A>C)
c.115+35A>C (n.115+35A>C)
c.958+35A>C (n.958+35A>C)
c.1017+35A>C
c.2149+35A>C (n.2149+35A>C)
c.3277+35A>C (n.3277+35A>C)
c.192+35A>C
c.3457+35A>C (n.3457+35A>C)
c.3124+35A>C (n.3124+35A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611843A>GCA2684588458CFTRc.3367+35A>G (n.3367+35A>G)
c.*3081+35A>G (n.*3081+35A>G)
c.3184+35A>G (n.3184+35A>G)
c.*1667+35A>G (n.*1667+35A>G)
c.*3191+35A>G (n.*3191+35A>G)
c.2941+35A>G (n.2941+35A>G)
c.115+35A>G (n.115+35A>G)
c.958+35A>G (n.958+35A>G)
c.1017+35A>G
c.2149+35A>G (n.2149+35A>G)
c.3277+35A>G (n.3277+35A>G)
c.192+35A>G
c.3457+35A>G (n.3457+35A>G)
c.3124+35A>G (n.3124+35A>G)
 gnomAD v4
7g.117611844A>GCA2684588459CFTRc.3367+36A>G (n.3367+36A>G)
c.*3081+36A>G (n.*3081+36A>G)
c.3184+36A>G (n.3184+36A>G)
c.*1667+36A>G (n.*1667+36A>G)
c.*3191+36A>G (n.*3191+36A>G)
c.2941+36A>G (n.2941+36A>G)
c.115+36A>G (n.115+36A>G)
c.958+36A>G (n.958+36A>G)
c.1017+36A>G
c.2149+36A>G (n.2149+36A>G)
c.3277+36A>G (n.3277+36A>G)
c.192+36A>G
c.3457+36A>G (n.3457+36A>G)
c.3124+36A>G (n.3124+36A>G)
 gnomAD v4
7g.117611845G>ACA4451434CFTRc.3367+37G>A (n.3367+37G>A)
c.*3081+37G>A (n.*3081+37G>A)
c.3184+37G>A (n.3184+37G>A)
c.*1667+37G>A (n.*1667+37G>A)
c.*3191+37G>A (n.*3191+37G>A)
c.2941+37G>A (n.2941+37G>A)
c.115+37G>A (n.115+37G>A)
c.958+37G>A (n.958+37G>A)
c.1017+37G>A
c.2149+37G>A (n.2149+37G>A)
c.3277+37G>A (n.3277+37G>A)
c.192+37G>A
c.3457+37G>A (n.3457+37G>A)
c.3124+37G>A (n.3124+37G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611845G>CCA2684588460CFTRc.3367+37G>C (n.3367+37G>C)
c.*3081+37G>C (n.*3081+37G>C)
c.3184+37G>C (n.3184+37G>C)
c.*1667+37G>C (n.*1667+37G>C)
c.*3191+37G>C (n.*3191+37G>C)
c.2941+37G>C (n.2941+37G>C)
c.115+37G>C (n.115+37G>C)
c.958+37G>C (n.958+37G>C)
c.1017+37G>C
c.2149+37G>C (n.2149+37G>C)
c.3277+37G>C (n.3277+37G>C)
c.192+37G>C
c.3457+37G>C (n.3457+37G>C)
c.3124+37G>C (n.3124+37G>C)
 gnomAD v4
7g.117611845G=CA1737387904CFTRc.3367+37G= (n.3367+37G=)
c.*3081+37G= (n.*3081+37G=)
c.3184+37G= (n.3184+37G=)
c.*1667+37G= (n.*1667+37G=)
c.*3191+37G= (n.*3191+37G=)
c.2941+37G= (n.2941+37G=)
c.115+37G= (n.115+37G=)
c.958+37G= (n.958+37G=)
c.1017+37G=
c.2149+37G= (n.2149+37G=)
c.3277+37G= (n.3277+37G=)
c.192+37G=
c.3457+37G= (n.3457+37G=)
c.3124+37G= (n.3124+37G=)
7g.117611845G>TCA577222642CFTRc.3367+37G>T (n.3367+37G>T)
c.*3081+37G>T (n.*3081+37G>T)
c.3184+37G>T (n.3184+37G>T)
c.*1667+37G>T (n.*1667+37G>T)
c.*3191+37G>T (n.*3191+37G>T)
c.2941+37G>T (n.2941+37G>T)
c.115+37G>T (n.115+37G>T)
c.958+37G>T (n.958+37G>T)
c.1017+37G>T
c.2149+37G>T (n.2149+37G>T)
c.3277+37G>T (n.3277+37G>T)
c.192+37G>T
c.3457+37G>T (n.3457+37G>T)
c.3124+37G>T (n.3124+37G>T)
 dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched