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.117611633_117611717delCA2697557585CFTRc.3192_3276del (p.Leu1065CysfsTer9)
c.*2906_*2990del (n.*2906_*2990del)
c.3009_3093del (p.Leu1004CysfsTer9)
c.*1492_*1576del (n.*1492_*1576del)
c.*3016_*3100del (n.*3016_*3100del)
c.2766_2850del (p.Leu923CysfsTer9)
c.783_867del (p.Leu262CysfsTer9)
c.842_926del
c.1974_2058del (p.Leu659CysfsTer9)
c.3102_3186del (p.Leu1035CysfsTer9)
c.17_101del
c.3282_3366del (p.Leu1095CysfsTer9)
c.2949_3033del (p.Leu984CysfsTer9)
ClinVar
7g.117611671_117611675delCA2695208435CFTRc.3230_3234del (p.Leu1077ProfsTer?)
c.*2944_*2948del (n.*2944_*2948del)
c.3047_3051del (p.Leu1016ProfsTer?)
c.*1530_*1534del (n.*1530_*1534del)
c.*3054_*3058del (n.*3054_*3058del)
c.2804_2808del (p.Leu935ProfsTer?)
c.821_825del (p.Leu274ProfsTer?)
c.880_884del
c.2012_2016del (p.Leu671ProfsTer?)
c.3140_3144del (p.Leu1047ProfsTer?)
c.55_59del
c.3320_3324del (p.Leu1107ProfsTer?)
c.2987_2991del (p.Leu996ProfsTer?)
7g.117611672_117611673delCA4451410CFTRc.3231_3232del (p.Phe1078ProfsTer?)
c.*2945_*2946del (n.*2945_*2946del)
c.3048_3049del (p.Phe1017ProfsTer?)
c.*1531_*1532del (n.*1531_*1532del)
c.*3055_*3056del (n.*3055_*3056del)
c.2805_2806del (p.Phe936ProfsTer?)
c.822_823del (p.Phe275ProfsTer?)
c.881_882del
c.2013_2014del (p.Phe672ProfsTer?)
c.3141_3142del (p.Phe1048ProfsTer?)
c.56_57del
c.3321_3322del (p.Phe1108ProfsTer?)
c.2988_2989del (p.Phe997ProfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117611673T>ACA368992185CFTRc.3232T>A (p.Phe1078Ile)
c.*2946T>A (n.*2946T>A)
c.3049T>A (p.Phe1017Ile)
c.*1532T>A (n.*1532T>A)
c.*3056T>A (n.*3056T>A)
c.2806T>A (p.Phe936Ile)
c.823T>A (p.Phe275Ile)
c.882T>A
c.2014T>A (p.Phe672Ile)
c.3142T>A (p.Phe1048Ile)
c.57T>A
c.3322T>A (p.Phe1108Ile)
c.2989T>A (p.Phe997Ile)
7g.117611673T>CCA368992182CFTRc.3232T>C (p.Phe1078Leu)
c.*2946T>C (n.*2946T>C)
c.3049T>C (p.Phe1017Leu)
c.*1532T>C (n.*1532T>C)
c.*3056T>C (n.*3056T>C)
c.2806T>C (p.Phe936Leu)
c.823T>C (p.Phe275Leu)
c.882T>C
c.2014T>C (p.Phe672Leu)
c.3142T>C (p.Phe1048Leu)
c.57T>C
c.3322T>C (p.Phe1108Leu)
c.2989T>C (p.Phe997Leu)
7g.117611673T>GCA368992184CFTRc.3232T>G (p.Phe1078Val)
c.*2946T>G (n.*2946T>G)
c.3049T>G (p.Phe1017Val)
c.*1532T>G (n.*1532T>G)
c.*3056T>G (n.*3056T>G)
c.2806T>G (p.Phe936Val)
c.823T>G (p.Phe275Val)
c.882T>G
c.2014T>G (p.Phe672Val)
c.3142T>G (p.Phe1048Val)
c.57T>G
c.3322T>G (p.Phe1108Val)
c.2989T>G (p.Phe997Val)
7g.117611674T>ACA368992188CFTRc.3233T>A (p.Phe1078Tyr)
c.*2947T>A (n.*2947T>A)
c.3050T>A (p.Phe1017Tyr)
c.*1533T>A (n.*1533T>A)
c.*3057T>A (n.*3057T>A)
c.2807T>A (p.Phe936Tyr)
c.824T>A (p.Phe275Tyr)
c.883T>A
c.2015T>A (p.Phe672Tyr)
c.3143T>A (p.Phe1048Tyr)
c.58T>A
c.3323T>A (p.Phe1108Tyr)
c.2990T>A (p.Phe997Tyr)
7g.117611674T>CCA368992189CFTRc.3233T>C (p.Phe1078Ser)
c.*2947T>C (n.*2947T>C)
c.3050T>C (p.Phe1017Ser)
c.*1533T>C (n.*1533T>C)
c.*3057T>C (n.*3057T>C)
c.2807T>C (p.Phe936Ser)
c.824T>C (p.Phe275Ser)
c.883T>C
c.2015T>C (p.Phe672Ser)
c.3143T>C (p.Phe1048Ser)
c.58T>C
c.3323T>C (p.Phe1108Ser)
c.2990T>C (p.Phe997Ser)
7g.117611674T>GCA368992190CFTRc.3233T>G (p.Phe1078Cys)
c.*2947T>G (n.*2947T>G)
c.3050T>G (p.Phe1017Cys)
c.*1533T>G (n.*1533T>G)
c.*3057T>G (n.*3057T>G)
c.2807T>G (p.Phe936Cys)
c.824T>G (p.Phe275Cys)
c.883T>G
c.2015T>G (p.Phe672Cys)
c.3143T>G (p.Phe1048Cys)
c.58T>G
c.3323T>G (p.Phe1108Cys)
c.2990T>G (p.Phe997Cys)
7g.117611675C>ACA368992192CFTRc.3234C>A (p.Phe1078Leu)
c.*2948C>A (n.*2948C>A)
c.3051C>A (p.Phe1017Leu)
c.*1534C>A (n.*1534C>A)
c.*3058C>A (n.*3058C>A)
c.2808C>A (p.Phe936Leu)
c.825C>A (p.Phe275Leu)
c.884C>A
c.2016C>A (p.Phe672Leu)
c.3144C>A (p.Phe1048Leu)
c.59C>A
c.3324C>A (p.Phe1108Leu)
c.2991C>A (p.Phe997Leu)
7g.117611675C>GCA368992194CFTRc.3234C>G (p.Phe1078Leu)
c.*2948C>G (n.*2948C>G)
c.3051C>G (p.Phe1017Leu)
c.*1534C>G (n.*1534C>G)
c.*3058C>G (n.*3058C>G)
c.2808C>G (p.Phe936Leu)
c.825C>G (p.Phe275Leu)
c.884C>G
c.2016C>G (p.Phe672Leu)
c.3144C>G (p.Phe1048Leu)
c.59C>G
c.3324C>G (p.Phe1108Leu)
c.2991C>G (p.Phe997Leu)
7g.117611675C>TCA457230033CFTRc.3234C>T (p.Phe1078=)
c.*2948C>T (n.*2948C>T)
c.3051C>T (p.Phe1017=)
c.*1534C>T (n.*1534C>T)
c.*3058C>T (n.*3058C>T)
c.2808C>T (p.Phe936=)
c.825C>T (p.Phe275=)
c.884C>T
c.2016C>T (p.Phe672=)
c.3144C>T (p.Phe1048=)
c.59C>T
c.3324C>T (p.Phe1108=)
c.2991C>T (p.Phe997=)
gnomAD v4
7g.117611676C>ACA368992196CFTRc.3235C>A (p.His1079Asn)
c.*2949C>A (n.*2949C>A)
c.3052C>A (p.His1018Asn)
c.*1535C>A (n.*1535C>A)
c.*3059C>A (n.*3059C>A)
c.2809C>A (p.His937Asn)
c.826C>A (p.His276Asn)
c.885C>A
c.2017C>A (p.His673Asn)
c.3145C>A (p.His1049Asn)
c.60C>A
c.3325C>A (p.His1109Asn)
c.2992C>A (p.His998Asn)
7g.117611676C>GCA368992197CFTRc.3235C>G (p.His1079Asp)
c.*2949C>G (n.*2949C>G)
c.3052C>G (p.His1018Asp)
c.*1535C>G (n.*1535C>G)
c.*3059C>G (n.*3059C>G)
c.2809C>G (p.His937Asp)
c.826C>G (p.His276Asp)
c.885C>G
c.2017C>G (p.His673Asp)
c.3145C>G (p.His1049Asp)
c.60C>G
c.3325C>G (p.His1109Asp)
c.2992C>G (p.His998Asp)
7g.117611676C>TCA368992199CFTRc.3235C>T (p.His1079Tyr)
c.*2949C>T (n.*2949C>T)
c.3052C>T (p.His1018Tyr)
c.*1535C>T (n.*1535C>T)
c.*3059C>T (n.*3059C>T)
c.2809C>T (p.His937Tyr)
c.826C>T (p.His276Tyr)
c.885C>T
c.2017C>T (p.His673Tyr)
c.3145C>T (p.His1049Tyr)
c.60C>T
c.3325C>T (p.His1109Tyr)
c.2992C>T (p.His998Tyr)
ClinVar
7g.117611677A=CA1737387113CFTRc.3236A= (p.His1079=)
c.*2950A= (n.*2950A=)
c.3053A= (p.His1018=)
c.*1536A= (n.*1536A=)
c.*3060A= (n.*3060A=)
c.2810A= (p.His937=)
c.827A= (p.His276=)
c.886A=
c.2018A= (p.His673=)
c.3146A= (p.His1049=)
c.61A=
c.3326A= (p.His1109=)
c.2993A= (p.His998=)
7g.117611677A>CCA327106CFTRc.3236A>C (p.His1079Pro)
c.*2950A>C (n.*2950A>C)
c.3053A>C (p.His1018Pro)
c.*1536A>C (n.*1536A>C)
c.*3060A>C (n.*3060A>C)
c.2810A>C (p.His937Pro)
c.827A>C (p.His276Pro)
c.886A>C
c.2018A>C (p.His673Pro)
c.3146A>C (p.His1049Pro)
c.61A>C
c.3326A>C (p.His1109Pro)
c.2993A>C (p.His998Pro)
dbSNP
7g.117611677A>GCA368992202CFTRc.3236A>G (p.His1079Arg)
c.*2950A>G (n.*2950A>G)
c.3053A>G (p.His1018Arg)
c.*1536A>G (n.*1536A>G)
c.*3060A>G (n.*3060A>G)
c.2810A>G (p.His937Arg)
c.827A>G (p.His276Arg)
c.886A>G
c.2018A>G (p.His673Arg)
c.3146A>G (p.His1049Arg)
c.61A>G
c.3326A>G (p.His1109Arg)
c.2993A>G (p.His998Arg)
dbSNP gnomAD v3 gnomAD v4
7g.117611677A>TCA368992204CFTRc.3236A>T (p.His1079Leu)
c.*2950A>T (n.*2950A>T)
c.3053A>T (p.His1018Leu)
c.*1536A>T (n.*1536A>T)
c.*3060A>T (n.*3060A>T)
c.2810A>T (p.His937Leu)
c.827A>T (p.His276Leu)
c.886A>T
c.2018A>T (p.His673Leu)
c.3146A>T (p.His1049Leu)
c.61A>T
c.3326A>T (p.His1109Leu)
c.2993A>T (p.His998Leu)
7g.117611678C>ACA368992208CFTRc.3237C>A (p.His1079Gln)
c.*2951C>A (n.*2951C>A)
c.3054C>A (p.His1018Gln)
c.*1537C>A (n.*1537C>A)
c.*3061C>A (n.*3061C>A)
c.2811C>A (p.His937Gln)
c.828C>A (p.His276Gln)
c.887C>A
c.2019C>A (p.His673Gln)
c.3147C>A (p.His1049Gln)
c.62C>A
c.3327C>A (p.His1109Gln)
c.2994C>A (p.His998Gln)
7g.117611678C>GCA368992206CFTRc.3237C>G (p.His1079Gln)
c.*2951C>G (n.*2951C>G)
c.3054C>G (p.His1018Gln)
c.*1537C>G (n.*1537C>G)
c.*3061C>G (n.*3061C>G)
c.2811C>G (p.His937Gln)
c.828C>G (p.His276Gln)
c.887C>G
c.2019C>G (p.His673Gln)
c.3147C>G (p.His1049Gln)
c.62C>G
c.3327C>G (p.His1109Gln)
c.2994C>G (p.His998Gln)
7g.117611678C>TCA457230034CFTRc.3237C>T (p.His1079=)
c.*2951C>T (n.*2951C>T)
c.3054C>T (p.His1018=)
c.*1537C>T (n.*1537C>T)
c.*3061C>T (n.*3061C>T)
c.2811C>T (p.His937=)
c.828C>T (p.His276=)
c.887C>T
c.2019C>T (p.His673=)
c.3147C>T (p.His1049=)
c.62C>T
c.3327C>T (p.His1109=)
c.2994C>T (p.His998=)
ClinVar dbSNP
7g.117611679A=CA1737387116CFTRc.3238A= (p.Lys1080=)
c.*2952A= (n.*2952A=)
c.3055A= (p.Lys1019=)
c.*1538A= (n.*1538A=)
c.*3062A= (n.*3062A=)
c.2812A= (p.Lys938=)
c.829A= (p.Lys277=)
c.888A=
c.2020A= (p.Lys674=)
c.3148A= (p.Lys1050=)
c.63A=
c.3328A= (p.Lys1110=)
c.2995A= (p.Lys999=)
7g.117611679A>CCA4451411CFTRc.3238A>C (p.Lys1080Gln)
c.*2952A>C (n.*2952A>C)
c.3055A>C (p.Lys1019Gln)
c.*1538A>C (n.*1538A>C)
c.*3062A>C (n.*3062A>C)
c.2812A>C (p.Lys938Gln)
c.829A>C (p.Lys277Gln)
c.888A>C
c.2020A>C (p.Lys674Gln)
c.3148A>C (p.Lys1050Gln)
c.63A>C
c.3328A>C (p.Lys1110Gln)
c.2995A>C (p.Lys999Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611679A>GCA368992210CFTRc.3238A>G (p.Lys1080Glu)
c.*2952A>G (n.*2952A>G)
c.3055A>G (p.Lys1019Glu)
c.*1538A>G (n.*1538A>G)
c.*3062A>G (n.*3062A>G)
c.2812A>G (p.Lys938Glu)
c.829A>G (p.Lys277Glu)
c.888A>G
c.2020A>G (p.Lys674Glu)
c.3148A>G (p.Lys1050Glu)
c.63A>G
c.3328A>G (p.Lys1110Glu)
c.2995A>G (p.Lys999Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117611679A>TCA368992212CFTRc.3238A>T (p.Lys1080Ter)
c.*2952A>T (n.*2952A>T)
c.3055A>T (p.Lys1019Ter)
c.*1538A>T (n.*1538A>T)
c.*3062A>T (n.*3062A>T)
c.2812A>T (p.Lys938Ter)
c.829A>T (p.Lys277Ter)
c.888A>T
c.2020A>T (p.Lys674Ter)
c.3148A>T (p.Lys1050Ter)
c.63A>T
c.3328A>T (p.Lys1110Ter)
c.2995A>T (p.Lys999Ter)
7g.117611681dupCA2695208436CFTRc.3240dup (p.Ala1081SerfsTer?)
c.*2954dup (n.*2954dup)
c.3057dup (p.Ala1020SerfsTer?)
c.*1540dup (n.*1540dup)
c.*3064dup (n.*3064dup)
c.2814dup (p.Ala939SerfsTer?)
c.831dup (p.Ala278SerfsTer?)
c.890dup
c.2022dup (p.Ala675SerfsTer?)
c.3150dup (p.Ala1051SerfsTer?)
c.65dup
c.3330dup (p.Ala1111SerfsTer?)
c.2997dup (p.Ala1000SerfsTer?)
7g.117611680A=CA1737387121CFTRc.3239A= (p.Lys1080=)
c.*2953A= (n.*2953A=)
c.3056A= (p.Lys1019=)
c.*1539A= (n.*1539A=)
c.*3063A= (n.*3063A=)
c.2813A= (p.Lys938=)
c.830A= (p.Lys277=)
c.889A=
c.2021A= (p.Lys674=)
c.3149A= (p.Lys1050=)
c.64A=
c.3329A= (p.Lys1110=)
c.2996A= (p.Lys999=)
7g.117611680A>CCA368992214CFTRc.3239A>C (p.Lys1080Thr)
c.*2953A>C (n.*2953A>C)
c.3056A>C (p.Lys1019Thr)
c.*1539A>C (n.*1539A>C)
c.*3063A>C (n.*3063A>C)
c.2813A>C (p.Lys938Thr)
c.830A>C (p.Lys277Thr)
c.889A>C
c.2021A>C (p.Lys674Thr)
c.3149A>C (p.Lys1050Thr)
c.64A>C
c.3329A>C (p.Lys1110Thr)
c.2996A>C (p.Lys999Thr)
7g.117611680A>GCA4451412CFTRc.3239A>G (p.Lys1080Arg)
c.*2953A>G (n.*2953A>G)
c.3056A>G (p.Lys1019Arg)
c.*1539A>G (n.*1539A>G)
c.*3063A>G (n.*3063A>G)
c.2813A>G (p.Lys938Arg)
c.830A>G (p.Lys277Arg)
c.889A>G
c.2021A>G (p.Lys674Arg)
c.3149A>G (p.Lys1050Arg)
c.64A>G
c.3329A>G (p.Lys1110Arg)
c.2996A>G (p.Lys999Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611680A>TCA368992216CFTRc.3239A>T (p.Lys1080Ile)
c.*2953A>T (n.*2953A>T)
c.3056A>T (p.Lys1019Ile)
c.*1539A>T (n.*1539A>T)
c.*3063A>T (n.*3063A>T)
c.2813A>T (p.Lys938Ile)
c.830A>T (p.Lys277Ile)
c.889A>T
c.2021A>T (p.Lys674Ile)
c.3149A>T (p.Lys1050Ile)
c.64A>T
c.3329A>T (p.Lys1110Ile)
c.2996A>T (p.Lys999Ile)
7g.117611681A>CCA368992217CFTRc.3240A>C (p.Lys1080Asn)
c.*2954A>C (n.*2954A>C)
c.3057A>C (p.Lys1019Asn)
c.*1540A>C (n.*1540A>C)
c.*3064A>C (n.*3064A>C)
c.2814A>C (p.Lys938Asn)
c.831A>C (p.Lys277Asn)
c.890A>C
c.2022A>C (p.Lys674Asn)
c.3150A>C (p.Lys1050Asn)
c.65A>C
c.3330A>C (p.Lys1110Asn)
c.2997A>C (p.Lys999Asn)
gnomAD v4
7g.117611681A>GCA457230035CFTRc.3240A>G (p.Lys1080=)
c.*2954A>G (n.*2954A>G)
c.3057A>G (p.Lys1019=)
c.*1540A>G (n.*1540A>G)
c.*3064A>G (n.*3064A>G)
c.2814A>G (p.Lys938=)
c.831A>G (p.Lys277=)
c.890A>G
c.2022A>G (p.Lys674=)
c.3150A>G (p.Lys1050=)
c.65A>G
c.3330A>G (p.Lys1110=)
c.2997A>G (p.Lys999=)
7g.117611681A>TCA368992218CFTRc.3240A>T (p.Lys1080Asn)
c.*2954A>T (n.*2954A>T)
c.3057A>T (p.Lys1019Asn)
c.*1540A>T (n.*1540A>T)
c.*3064A>T (n.*3064A>T)
c.2814A>T (p.Lys938Asn)
c.831A>T (p.Lys277Asn)
c.890A>T
c.2022A>T (p.Lys674Asn)
c.3150A>T (p.Lys1050Asn)
c.65A>T
c.3330A>T (p.Lys1110Asn)
c.2997A>T (p.Lys999Asn)
7g.117611682delCA2580610970CFTRc.3241del (p.Ala1081LeufsTer2)
c.*2955del (n.*2955del)
c.3058del (p.Ala1020LeufsTer2)
c.*1541del (n.*1541del)
c.*3065del (n.*3065del)
c.2815del (p.Ala939LeufsTer2)
c.832del (p.Ala278LeufsTer2)
c.891del
c.2023del (p.Ala675LeufsTer2)
c.3151del (p.Ala1051LeufsTer2)
c.66del
c.3331del (p.Ala1111LeufsTer2)
c.2998del (p.Ala1000LeufsTer2)
7g.117611682G>ACA368992220CFTRc.3241G>A (p.Ala1081Thr)
c.*2955G>A (n.*2955G>A)
c.3058G>A (p.Ala1020Thr)
c.*1541G>A (n.*1541G>A)
c.*3065G>A (n.*3065G>A)
c.2815G>A (p.Ala939Thr)
c.832G>A (p.Ala278Thr)
c.891G>A
c.2023G>A (p.Ala675Thr)
c.3151G>A (p.Ala1051Thr)
c.66G>A
c.3331G>A (p.Ala1111Thr)
c.2998G>A (p.Ala1000Thr)
7g.117611682G>CCA327110CFTRc.3241G>C (p.Ala1081Pro)
c.*2955G>C (n.*2955G>C)
c.3058G>C (p.Ala1020Pro)
c.*1541G>C (n.*1541G>C)
c.*3065G>C (n.*3065G>C)
c.2815G>C (p.Ala939Pro)
c.832G>C (p.Ala278Pro)
c.891G>C
c.2023G>C (p.Ala675Pro)
c.3151G>C (p.Ala1051Pro)
c.66G>C
c.3331G>C (p.Ala1111Pro)
c.2998G>C (p.Ala1000Pro)
ClinVar dbSNP
7g.117611682G=CA1737387130CFTRc.3241G= (p.Ala1081=)
c.*2955G= (n.*2955G=)
c.3058G= (p.Ala1020=)
c.*1541G= (n.*1541G=)
c.*3065G= (n.*3065G=)
c.2815G= (p.Ala939=)
c.832G= (p.Ala278=)
c.891G=
c.2023G= (p.Ala675=)
c.3151G= (p.Ala1051=)
c.66G=
c.3331G= (p.Ala1111=)
c.2998G= (p.Ala1000=)
7g.117611682G>TCA368992222CFTRc.3241G>T (p.Ala1081Ser)
c.*2955G>T (n.*2955G>T)
c.3058G>T (p.Ala1020Ser)
c.*1541G>T (n.*1541G>T)
c.*3065G>T (n.*3065G>T)
c.2815G>T (p.Ala939Ser)
c.832G>T (p.Ala278Ser)
c.891G>T
c.2023G>T (p.Ala675Ser)
c.3151G>T (p.Ala1051Ser)
c.66G>T
c.3331G>T (p.Ala1111Ser)
c.2998G>T (p.Ala1000Ser)

Number of alleles fetched