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.117611565T>ACA4451401CFTRc.3140-16T>A (n.3140-16T>A)
c.*2854-16T>A (n.*2854-16T>A)
c.2957-16T>A (n.2957-16T>A)
c.*1440-16T>A (n.*1440-16T>A)
c.*2964-16T>A (n.*2964-16T>A)
c.2714-16T>A (n.2714-16T>A)
c.731-16T>A (n.731-16T>A)
c.790-16T>A
c.1922-16T>A (n.1922-16T>A)
c.3050-16T>A (n.3050-16T>A)
c.3230-16T>A (n.3230-16T>A)
c.2897-16T>A (n.2897-16T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117611565T>CCA2684588437CFTRc.3140-16T>C (n.3140-16T>C)
c.*2854-16T>C (n.*2854-16T>C)
c.2957-16T>C (n.2957-16T>C)
c.*1440-16T>C (n.*1440-16T>C)
c.*2964-16T>C (n.*2964-16T>C)
c.2714-16T>C (n.2714-16T>C)
c.731-16T>C (n.731-16T>C)
c.790-16T>C
c.1922-16T>C (n.1922-16T>C)
c.3050-16T>C (n.3050-16T>C)
c.3230-16T>C (n.3230-16T>C)
c.2897-16T>C (n.2897-16T>C)
 ClinVar gnomAD v4
7g.117611565T=CA1737386625CFTRc.3140-16T= (n.3140-16T=)
c.*2854-16T= (n.*2854-16T=)
c.2957-16T= (n.2957-16T=)
c.*1440-16T= (n.*1440-16T=)
c.*2964-16T= (n.*2964-16T=)
c.2714-16T= (n.2714-16T=)
c.731-16T= (n.731-16T=)
c.790-16T=
c.1922-16T= (n.1922-16T=)
c.3050-16T= (n.3050-16T=)
c.3230-16T= (n.3230-16T=)
c.2897-16T= (n.2897-16T=)
7g.117611567G>ACA2684588438CFTRc.3140-14G>A (n.3140-14G>A)
c.*2854-14G>A (n.*2854-14G>A)
c.2957-14G>A (n.2957-14G>A)
c.*1440-14G>A (n.*1440-14G>A)
c.*2964-14G>A (n.*2964-14G>A)
c.2714-14G>A (n.2714-14G>A)
c.731-14G>A (n.731-14G>A)
c.790-14G>A
c.1922-14G>A (n.1922-14G>A)
c.3050-14G>A (n.3050-14G>A)
c.3230-14G>A (n.3230-14G>A)
c.2897-14G>A (n.2897-14G>A)
 gnomAD v4
7g.117611567G>TCA2579000251CFTRc.3140-14G>T (n.3140-14G>T)
c.*2854-14G>T (n.*2854-14G>T)
c.2957-14G>T (n.2957-14G>T)
c.*1440-14G>T (n.*1440-14G>T)
c.*2964-14G>T (n.*2964-14G>T)
c.2714-14G>T (n.2714-14G>T)
c.731-14G>T (n.731-14G>T)
c.790-14G>T
c.1922-14G>T (n.1922-14G>T)
c.3050-14G>T (n.3050-14G>T)
c.3230-14G>T (n.3230-14G>T)
c.2897-14G>T (n.2897-14G>T)
 gnomAD v4
7g.117611568A>GCA2684588439CFTRc.3140-13A>G (n.3140-13A>G)
c.*2854-13A>G (n.*2854-13A>G)
c.2957-13A>G (n.2957-13A>G)
c.*1440-13A>G (n.*1440-13A>G)
c.*2964-13A>G (n.*2964-13A>G)
c.2714-13A>G (n.2714-13A>G)
c.731-13A>G (n.731-13A>G)
c.790-13A>G
c.1922-13A>G (n.1922-13A>G)
c.3050-13A>G (n.3050-13A>G)
c.3230-13A>G (n.3230-13A>G)
c.2897-13A>G (n.2897-13A>G)
 gnomAD v4
7g.117611569A>GCA2684588440CFTRc.3140-12A>G (n.3140-12A>G)
c.*2854-12A>G (n.*2854-12A>G)
c.2957-12A>G (n.2957-12A>G)
c.*1440-12A>G (n.*1440-12A>G)
c.*2964-12A>G (n.*2964-12A>G)
c.2714-12A>G (n.2714-12A>G)
c.731-12A>G (n.731-12A>G)
c.790-12A>G
c.1922-12A>G (n.1922-12A>G)
c.3050-12A>G (n.3050-12A>G)
c.3230-12A>G (n.3230-12A>G)
c.2897-12A>G (n.2897-12A>G)
 gnomAD v4
7g.117611570A=CA1737386629CFTRc.3140-11A= (n.3140-11A=)
c.*2854-11A= (n.*2854-11A=)
c.2957-11A= (n.2957-11A=)
c.*1440-11A= (n.*1440-11A=)
c.*2964-11A= (n.*2964-11A=)
c.2714-11A= (n.2714-11A=)
c.731-11A= (n.731-11A=)
c.790-11A=
c.1922-11A= (n.1922-11A=)
c.3050-11A= (n.3050-11A=)
c.3230-11A= (n.3230-11A=)
c.2897-11A= (n.2897-11A=)
7g.117611570A>GCA577680846CFTRc.3140-11A>G (n.3140-11A>G)
c.*2854-11A>G (n.*2854-11A>G)
c.2957-11A>G (n.2957-11A>G)
c.*1440-11A>G (n.*1440-11A>G)
c.*2964-11A>G (n.*2964-11A>G)
c.2714-11A>G (n.2714-11A>G)
c.731-11A>G (n.731-11A>G)
c.790-11A>G
c.1922-11A>G (n.1922-11A>G)
c.3050-11A>G (n.3050-11A>G)
c.3230-11A>G (n.3230-11A>G)
c.2897-11A>G (n.2897-11A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117611572A=CA1737386631CFTRc.3140-9A= (n.3140-9A=)
c.*2854-9A= (n.*2854-9A=)
c.2957-9A= (n.2957-9A=)
c.*1440-9A= (n.*1440-9A=)
c.*2964-9A= (n.*2964-9A=)
c.2714-9A= (n.2714-9A=)
c.731-9A= (n.731-9A=)
c.790-9A=
c.1922-9A= (n.1922-9A=)
c.3050-9A= (n.3050-9A=)
c.3230-9A= (n.3230-9A=)
c.2897-9A= (n.2897-9A=)
7g.117611572A>GCA1106311788CFTRc.3140-9A>G (n.3140-9A>G)
c.*2854-9A>G (n.*2854-9A>G)
c.2957-9A>G (n.2957-9A>G)
c.*1440-9A>G (n.*1440-9A>G)
c.*2964-9A>G (n.*2964-9A>G)
c.2714-9A>G (n.2714-9A>G)
c.731-9A>G (n.731-9A>G)
c.790-9A>G
c.1922-9A>G (n.1922-9A>G)
c.3050-9A>G (n.3050-9A>G)
c.3230-9A>G (n.3230-9A>G)
c.2897-9A>G (n.2897-9A>G)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117611572A>TCA2695208432CFTRc.3140-9A>T (n.3140-9A>T)
c.*2854-9A>T (n.*2854-9A>T)
c.2957-9A>T (n.2957-9A>T)
c.*1440-9A>T (n.*1440-9A>T)
c.*2964-9A>T (n.*2964-9A>T)
c.2714-9A>T (n.2714-9A>T)
c.731-9A>T (n.731-9A>T)
c.790-9A>T
c.1922-9A>T (n.1922-9A>T)
c.3050-9A>T (n.3050-9A>T)
c.3230-9A>T (n.3230-9A>T)
c.2897-9A>T (n.2897-9A>T)
7g.117611575T>CCA2684588441CFTRc.3140-6T>C (n.3140-6T>C)
c.*2854-6T>C (n.*2854-6T>C)
c.2957-6T>C (n.2957-6T>C)
c.*1440-6T>C (n.*1440-6T>C)
c.*2964-6T>C (n.*2964-6T>C)
c.2714-6T>C (n.2714-6T>C)
c.731-6T>C (n.731-6T>C)
c.790-6T>C
c.1922-6T>C (n.1922-6T>C)
c.3050-6T>C (n.3050-6T>C)
c.3230-6T>C (n.3230-6T>C)
c.2897-6T>C (n.2897-6T>C)
 gnomAD v4
7g.117611576C>ACA2684588442CFTRc.3140-5C>A (n.3140-5C>A)
c.*2854-5C>A (n.*2854-5C>A)
c.2957-5C>A (n.2957-5C>A)
c.*1440-5C>A (n.*1440-5C>A)
c.*2964-5C>A (n.*2964-5C>A)
c.2714-5C>A (n.2714-5C>A)
c.731-5C>A (n.731-5C>A)
c.790-5C>A
c.1922-5C>A (n.1922-5C>A)
c.3050-5C>A (n.3050-5C>A)
c.3230-5C>A (n.3230-5C>A)
c.2897-5C>A (n.2897-5C>A)
 gnomAD v4
7g.117611576C>TCA2684588443CFTRc.3140-5C>T (n.3140-5C>T)
c.*2854-5C>T (n.*2854-5C>T)
c.2957-5C>T (n.2957-5C>T)
c.*1440-5C>T (n.*1440-5C>T)
c.*2964-5C>T (n.*2964-5C>T)
c.2714-5C>T (n.2714-5C>T)
c.731-5C>T (n.731-5C>T)
c.790-5C>T
c.1922-5C>T (n.1922-5C>T)
c.3050-5C>T (n.3050-5C>T)
c.3230-5C>T (n.3230-5C>T)
c.2897-5C>T (n.2897-5C>T)
 gnomAD v4
7g.117611577A=CA1737386641CFTRc.3140-4A= (n.3140-4A=)
c.*2854-4A= (n.*2854-4A=)
c.2957-4A= (n.2957-4A=)
c.*1440-4A= (n.*1440-4A=)
c.*2964-4A= (n.*2964-4A=)
c.2714-4A= (n.2714-4A=)
c.731-4A= (n.731-4A=)
c.790-4A=
c.1922-4A= (n.1922-4A=)
c.3050-4A= (n.3050-4A=)
c.3230-4A= (n.3230-4A=)
c.2897-4A= (n.2897-4A=)
7g.117611577A>GCA327061CFTRc.3140-4A>G (n.3140-4A>G)
c.*2854-4A>G (n.*2854-4A>G)
c.2957-4A>G (n.2957-4A>G)
c.*1440-4A>G (n.*1440-4A>G)
c.*2964-4A>G (n.*2964-4A>G)
c.2714-4A>G (n.2714-4A>G)
c.731-4A>G (n.731-4A>G)
c.790-4A>G
c.1922-4A>G (n.1922-4A>G)
c.3050-4A>G (n.3050-4A>G)
c.3230-4A>G (n.3230-4A>G)
c.2897-4A>G (n.2897-4A>G)
 ClinVar dbSNP
7g.117611577A>TCA164966256CFTRc.3140-4A>T (n.3140-4A>T)
c.*2854-4A>T (n.*2854-4A>T)
c.2957-4A>T (n.2957-4A>T)
c.*1440-4A>T (n.*1440-4A>T)
c.*2964-4A>T (n.*2964-4A>T)
c.2714-4A>T (n.2714-4A>T)
c.731-4A>T (n.731-4A>T)
c.790-4A>T
c.1922-4A>T (n.1922-4A>T)
c.3050-4A>T (n.3050-4A>T)
c.3230-4A>T (n.3230-4A>T)
c.2897-4A>T (n.2897-4A>T)
 dbSNP gnomAD v4
7g.117611578C>ACA2579000252CFTRc.3140-3C>A (n.3140-3C>A)
c.*2854-3C>A (n.*2854-3C>A)
c.2957-3C>A (n.2957-3C>A)
c.*1440-3C>A (n.*1440-3C>A)
c.*2964-3C>A (n.*2964-3C>A)
c.2714-3C>A (n.2714-3C>A)
c.731-3C>A (n.731-3C>A)
c.790-3C>A
c.1922-3C>A (n.1922-3C>A)
c.3050-3C>A (n.3050-3C>A)
c.3230-3C>A (n.3230-3C>A)
c.2897-3C>A (n.2897-3C>A)
 gnomAD v4
7g.117611578C=CA1737386644CFTRc.3140-3C= (n.3140-3C=)
c.*2854-3C= (n.*2854-3C=)
c.2957-3C= (n.2957-3C=)
c.*1440-3C= (n.*1440-3C=)
c.*2964-3C= (n.*2964-3C=)
c.2714-3C= (n.2714-3C=)
c.731-3C= (n.731-3C=)
c.790-3C=
c.1922-3C= (n.1922-3C=)
c.3050-3C= (n.3050-3C=)
c.3230-3C= (n.3230-3C=)
c.2897-3C= (n.2897-3C=)
7g.117611578C>TCA164966258CFTRc.3140-3C>T (n.3140-3C>T)
c.*2854-3C>T (n.*2854-3C>T)
c.2957-3C>T (n.2957-3C>T)
c.*1440-3C>T (n.*1440-3C>T)
c.*2964-3C>T (n.*2964-3C>T)
c.2714-3C>T (n.2714-3C>T)
c.731-3C>T (n.731-3C>T)
c.790-3C>T
c.1922-3C>T (n.1922-3C>T)
c.3050-3C>T (n.3050-3C>T)
c.3230-3C>T (n.3230-3C>T)
c.2897-3C>T (n.2897-3C>T)
 dbSNP gnomAD v4
7g.117611579A>CCA368991685CFTRc.3140-2A>C (n.3140-2A>C)
c.*2854-2A>C (n.*2854-2A>C)
c.2957-2A>C (n.2957-2A>C)
c.*1440-2A>C (n.*1440-2A>C)
c.*2964-2A>C (n.*2964-2A>C)
c.2714-2A>C (n.2714-2A>C)
c.731-2A>C (n.731-2A>C)
c.790-2A>C
c.1922-2A>C (n.1922-2A>C)
c.3050-2A>C (n.3050-2A>C)
c.3230-2A>C (n.3230-2A>C)
c.2897-2A>C (n.2897-2A>C)
7g.117611579A>GCA368991687CFTRc.3140-2A>G (n.3140-2A>G)
c.*2854-2A>G (n.*2854-2A>G)
c.2957-2A>G (n.2957-2A>G)
c.*1440-2A>G (n.*1440-2A>G)
c.*2964-2A>G (n.*2964-2A>G)
c.2714-2A>G (n.2714-2A>G)
c.731-2A>G (n.731-2A>G)
c.790-2A>G
c.1922-2A>G (n.1922-2A>G)
c.3050-2A>G (n.3050-2A>G)
c.3230-2A>G (n.3230-2A>G)
c.2897-2A>G (n.2897-2A>G)
 gnomAD v4
7g.117611579A>TCA368991682CFTRc.3140-2A>T (n.3140-2A>T)
c.*2854-2A>T (n.*2854-2A>T)
c.2957-2A>T (n.2957-2A>T)
c.*1440-2A>T (n.*1440-2A>T)
c.*2964-2A>T (n.*2964-2A>T)
c.2714-2A>T (n.2714-2A>T)
c.731-2A>T (n.731-2A>T)
c.790-2A>T
c.1922-2A>T (n.1922-2A>T)
c.3050-2A>T (n.3050-2A>T)
c.3230-2A>T (n.3230-2A>T)
c.2897-2A>T (n.2897-2A>T)
 gnomAD v4
7g.117611580G>ACA327060CFTRc.3140-1G>A (n.3140-1G>A)
c.*2854-1G>A (n.*2854-1G>A)
c.2957-1G>A (n.2957-1G>A)
c.*1440-1G>A (n.*1440-1G>A)
c.*2964-1G>A (n.*2964-1G>A)
c.2714-1G>A (n.2714-1G>A)
c.731-1G>A (n.731-1G>A)
c.790-1G>A
c.1922-1G>A (n.1922-1G>A)
c.3050-1G>A (n.3050-1G>A)
c.3230-1G>A (n.3230-1G>A)
c.2897-1G>A (n.2897-1G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117611580G>CCA368991700CFTRc.3140-1G>C (n.3140-1G>C)
c.*2854-1G>C (n.*2854-1G>C)
c.2957-1G>C (n.2957-1G>C)
c.*1440-1G>C (n.*1440-1G>C)
c.*2964-1G>C (n.*2964-1G>C)
c.2714-1G>C (n.2714-1G>C)
c.731-1G>C (n.731-1G>C)
c.790-1G>C
c.1922-1G>C (n.1922-1G>C)
c.3050-1G>C (n.3050-1G>C)
c.3230-1G>C (n.3230-1G>C)
c.2897-1G>C (n.2897-1G>C)
7g.117611580G=CA1737386655CFTRc.3140-1G= (n.3140-1G=)
c.*2854-1G= (n.*2854-1G=)
c.2957-1G= (n.2957-1G=)
c.*1440-1G= (n.*1440-1G=)
c.*2964-1G= (n.*2964-1G=)
c.2714-1G= (n.2714-1G=)
c.731-1G= (n.731-1G=)
c.790-1G=
c.1922-1G= (n.1922-1G=)
c.3050-1G= (n.3050-1G=)
c.3230-1G= (n.3230-1G=)
c.2897-1G= (n.2897-1G=)
7g.117611580G>TCA368991703CFTRc.3140-1G>T (n.3140-1G>T)
c.*2854-1G>T (n.*2854-1G>T)
c.2957-1G>T (n.2957-1G>T)
c.*1440-1G>T (n.*1440-1G>T)
c.*2964-1G>T (n.*2964-1G>T)
c.2714-1G>T (n.2714-1G>T)
c.731-1G>T (n.731-1G>T)
c.790-1G>T
c.1922-1G>T (n.1922-1G>T)
c.3050-1G>T (n.3050-1G>T)
c.3230-1G>T (n.3230-1G>T)
c.2897-1G>T (n.2897-1G>T)
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.117611581G>ACA327063CFTRc.3140G>A (p.Gly1047Asp)
c.*2854G>A (n.*2854G>A)
c.2957G>A (p.Gly986Asp)
c.*1440G>A (n.*1440G>A)
c.*2964G>A (n.*2964G>A)
c.2714G>A (p.Gly905Asp)
c.731G>A (p.Gly244Asp)
c.790G>A
c.1922G>A (p.Gly641Asp)
c.3050G>A (p.Gly1017Asp)
c.3230G>A (p.Gly1077Asp)
c.2897G>A (p.Gly966Asp)
 dbSNP gnomAD v4 COSMIC
7g.117611581G>CCA368991709CFTRc.3140G>C (p.Gly1047Ala)
c.*2854G>C (n.*2854G>C)
c.2957G>C (p.Gly986Ala)
c.*1440G>C (n.*1440G>C)
c.*2964G>C (n.*2964G>C)
c.2714G>C (p.Gly905Ala)
c.731G>C (p.Gly244Ala)
c.790G>C
c.1922G>C (p.Gly641Ala)
c.3050G>C (p.Gly1017Ala)
c.3230G>C (p.Gly1077Ala)
c.2897G>C (p.Gly966Ala)
7g.117611581G=CA1737386662CFTRc.3140G= (p.Gly1047=)
c.*2854G= (n.*2854G=)
c.2957G= (p.Gly986=)
c.*1440G= (n.*1440G=)
c.*2964G= (n.*2964G=)
c.2714G= (p.Gly905=)
c.731G= (p.Gly244=)
c.790G=
c.1922G= (p.Gly641=)
c.3050G= (p.Gly1017=)
c.3230G= (p.Gly1077=)
c.2897G= (p.Gly966=)
7g.117611581G>TCA4451402CFTRc.3140G>T (p.Gly1047Val)
c.*2854G>T (n.*2854G>T)
c.2957G>T (p.Gly986Val)
c.*1440G>T (n.*1440G>T)
c.*2964G>T (n.*2964G>T)
c.2714G>T (p.Gly905Val)
c.731G>T (p.Gly244Val)
c.790G>T
c.1922G>T (p.Gly641Val)
c.3050G>T (p.Gly1017Val)
c.3230G>T (p.Gly1077Val)
c.2897G>T (p.Gly966Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117611582C>ACA457229968CFTRc.3141C>A (p.Gly1047=)
c.*2855C>A (n.*2855C>A)
c.2958C>A (p.Gly986=)
c.*1441C>A (n.*1441C>A)
c.*2965C>A (n.*2965C>A)
c.2715C>A (p.Gly905=)
c.732C>A (p.Gly244=)
c.791C>A
c.1923C>A (p.Gly641=)
c.3051C>A (p.Gly1017=)
c.3231C>A (p.Gly1077=)
c.2898C>A (p.Gly966=)
 dbSNP gnomAD v4
7g.117611582C=CA1737386667CFTRc.3141C= (p.Gly1047=)
c.*2855C= (n.*2855C=)
c.2958C= (p.Gly986=)
c.*1441C= (n.*1441C=)
c.*2965C= (n.*2965C=)
c.2715C= (p.Gly905=)
c.732C= (p.Gly244=)
c.791C=
c.1923C= (p.Gly641=)
c.3051C= (p.Gly1017=)
c.3231C= (p.Gly1077=)
c.2898C= (p.Gly966=)
7g.117611582C>GCA457229969CFTRc.3141C>G (p.Gly1047=)
c.*2855C>G (n.*2855C>G)
c.2958C>G (p.Gly986=)
c.*1441C>G (n.*1441C>G)
c.*2965C>G (n.*2965C>G)
c.2715C>G (p.Gly905=)
c.732C>G (p.Gly244=)
c.791C>G
c.1923C>G (p.Gly641=)
c.3051C>G (p.Gly1017=)
c.3231C>G (p.Gly1077=)
c.2898C>G (p.Gly966=)
 ClinVar gnomAD v4
7g.117611582C>TCA457229970CFTRc.3141C>T (p.Gly1047=)
c.*2855C>T (n.*2855C>T)
c.2958C>T (p.Gly986=)
c.*1441C>T (n.*1441C>T)
c.*2965C>T (n.*2965C>T)
c.2715C>T (p.Gly905=)
c.732C>T (p.Gly244=)
c.791C>T
c.1923C>T (p.Gly641=)
c.3051C>T (p.Gly1017=)
c.3231C>T (p.Gly1077=)
c.2898C>T (p.Gly966=)
 gnomAD v4
7g.117611583A>CCA457229971CFTRc.3142A>C (p.Arg1048=)
c.*2856A>C (n.*2856A>C)
c.2959A>C (p.Arg987=)
c.*1442A>C (n.*1442A>C)
c.*2966A>C (n.*2966A>C)
c.2716A>C (p.Arg906=)
c.733A>C (p.Arg245=)
c.792A>C
c.1924A>C (p.Arg642=)
c.3052A>C (p.Arg1018=)
c.3232A>C (p.Arg1078=)
c.2899A>C (p.Arg967=)
 ClinVar
7g.117611583A>GCA368991715CFTRc.3142A>G (p.Arg1048Gly)
c.*2856A>G (n.*2856A>G)
c.2959A>G (p.Arg987Gly)
c.*1442A>G (n.*1442A>G)
c.*2966A>G (n.*2966A>G)
c.2716A>G (p.Arg906Gly)
c.733A>G (p.Arg245Gly)
c.792A>G
c.1924A>G (p.Arg642Gly)
c.3052A>G (p.Arg1018Gly)
c.3232A>G (p.Arg1078Gly)
c.2899A>G (p.Arg967Gly)
7g.117611583A>TCA368991718CFTRc.3142A>T (p.Arg1048Trp)
c.*2856A>T (n.*2856A>T)
c.2959A>T (p.Arg987Trp)
c.*1442A>T (n.*1442A>T)
c.*2966A>T (n.*2966A>T)
c.2716A>T (p.Arg906Trp)
c.733A>T (p.Arg245Trp)
c.792A>T
c.1924A>T (p.Arg642Trp)
c.3052A>T (p.Arg1018Trp)
c.3232A>T (p.Arg1078Trp)
c.2899A>T (p.Arg967Trp)
7g.117611584G>ACA368991723CFTRc.3143G>A (p.Arg1048Lys)
c.*2857G>A (n.*2857G>A)
c.2960G>A (p.Arg987Lys)
c.*1443G>A (n.*1443G>A)
c.*2967G>A (n.*2967G>A)
c.2717G>A (p.Arg906Lys)
c.734G>A (p.Arg245Lys)
c.793G>A
c.1925G>A (p.Arg642Lys)
c.3053G>A (p.Arg1018Lys)
c.3233G>A (p.Arg1078Lys)
c.2900G>A (p.Arg967Lys)
 gnomAD v4
7g.117611584G>CCA368991725CFTRc.3143G>C (p.Arg1048Thr)
c.*2857G>C (n.*2857G>C)
c.2960G>C (p.Arg987Thr)
c.*1443G>C (n.*1443G>C)
c.*2967G>C (n.*2967G>C)
c.2717G>C (p.Arg906Thr)
c.734G>C (p.Arg245Thr)
c.793G>C
c.1925G>C (p.Arg642Thr)
c.3053G>C (p.Arg1018Thr)
c.3233G>C (p.Arg1078Thr)
c.2900G>C (p.Arg967Thr)
7g.117611584G>TCA368991730CFTRc.3143G>T (p.Arg1048Met)
c.*2857G>T (n.*2857G>T)
c.2960G>T (p.Arg987Met)
c.*1443G>T (n.*1443G>T)
c.*2967G>T (n.*2967G>T)
c.2717G>T (p.Arg906Met)
c.734G>T (p.Arg245Met)
c.793G>T
c.1925G>T (p.Arg642Met)
c.3053G>T (p.Arg1018Met)
c.3233G>T (p.Arg1078Met)
c.2900G>T (p.Arg967Met)
7g.117611585G>ACA457229972CFTRc.3144G>A (p.Arg1048=)
c.*2858G>A (n.*2858G>A)
c.2961G>A (p.Arg987=)
c.*1444G>A (n.*1444G>A)
c.*2968G>A (n.*2968G>A)
c.2718G>A (p.Arg906=)
c.735G>A (p.Arg245=)
c.794G>A
c.1926G>A (p.Arg642=)
c.3054G>A (p.Arg1018=)
c.3234G>A (p.Arg1078=)
c.2901G>A (p.Arg967=)
7g.117611585G>CCA368991734CFTRc.3144G>C (p.Arg1048Ser)
c.*2858G>C (n.*2858G>C)
c.2961G>C (p.Arg987Ser)
c.*1444G>C (n.*1444G>C)
c.*2968G>C (n.*2968G>C)
c.2718G>C (p.Arg906Ser)
c.735G>C (p.Arg245Ser)
c.794G>C
c.1926G>C (p.Arg642Ser)
c.3054G>C (p.Arg1018Ser)
c.3234G>C (p.Arg1078Ser)
c.2901G>C (p.Arg967Ser)
7g.117611585G>TCA368991737CFTRc.3144G>T (p.Arg1048Ser)
c.*2858G>T (n.*2858G>T)
c.2961G>T (p.Arg987Ser)
c.*1444G>T (n.*1444G>T)
c.*2968G>T (n.*2968G>T)
c.2718G>T (p.Arg906Ser)
c.735G>T (p.Arg245Ser)
c.794G>T
c.1926G>T (p.Arg642Ser)
c.3054G>T (p.Arg1018Ser)
c.3234G>T (p.Arg1078Ser)
c.2901G>T (p.Arg967Ser)
7g.117611586A>CCA368991741CFTRc.3145A>C (p.Ser1049Arg)
c.*2859A>C (n.*2859A>C)
c.2962A>C (p.Ser988Arg)
c.*1445A>C (n.*1445A>C)
c.*2969A>C (n.*2969A>C)
c.2719A>C (p.Ser907Arg)
c.736A>C (p.Ser246Arg)
c.795A>C
c.1927A>C (p.Ser643Arg)
c.3055A>C (p.Ser1019Arg)
c.3235A>C (p.Ser1079Arg)
c.2902A>C (p.Ser968Arg)
7g.117611586A>GCA368991747CFTRc.3145A>G (p.Ser1049Gly)
c.*2859A>G (n.*2859A>G)
c.2962A>G (p.Ser988Gly)
c.*1445A>G (n.*1445A>G)
c.*2969A>G (n.*2969A>G)
c.2719A>G (p.Ser907Gly)
c.736A>G (p.Ser246Gly)
c.795A>G
c.1927A>G (p.Ser643Gly)
c.3055A>G (p.Ser1019Gly)
c.3235A>G (p.Ser1079Gly)
c.2902A>G (p.Ser968Gly)
 gnomAD v4
7g.117611586A>TCA368991744CFTRc.3145A>T (p.Ser1049Cys)
c.*2859A>T (n.*2859A>T)
c.2962A>T (p.Ser988Cys)
c.*1445A>T (n.*1445A>T)
c.*2969A>T (n.*2969A>T)
c.2719A>T (p.Ser907Cys)
c.736A>T (p.Ser246Cys)
c.795A>T
c.1927A>T (p.Ser643Cys)
c.3055A>T (p.Ser1019Cys)
c.3235A>T (p.Ser1079Cys)
c.2902A>T (p.Ser968Cys)
7g.117611587G>ACA368991749CFTRc.3146G>A (p.Ser1049Asn)
c.*2860G>A (n.*2860G>A)
c.2963G>A (p.Ser988Asn)
c.*1446G>A (n.*1446G>A)
c.*2970G>A (n.*2970G>A)
c.2720G>A (p.Ser907Asn)
c.737G>A (p.Ser246Asn)
c.796G>A
c.1928G>A (p.Ser643Asn)
c.3056G>A (p.Ser1019Asn)
c.3236G>A (p.Ser1079Asn)
c.2903G>A (p.Ser968Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117611587G>CCA368991754CFTRc.3146G>C (p.Ser1049Thr)
c.*2860G>C (n.*2860G>C)
c.2963G>C (p.Ser988Thr)
c.*1446G>C (n.*1446G>C)
c.*2970G>C (n.*2970G>C)
c.2720G>C (p.Ser907Thr)
c.737G>C (p.Ser246Thr)
c.796G>C
c.1928G>C (p.Ser643Thr)
c.3056G>C (p.Ser1019Thr)
c.3236G>C (p.Ser1079Thr)
c.2903G>C (p.Ser968Thr)
7g.117611587G=CA1737386671CFTRc.3146G= (p.Ser1049=)
c.*2860G= (n.*2860G=)
c.2963G= (p.Ser988=)
c.*1446G= (n.*1446G=)
c.*2970G= (n.*2970G=)
c.2720G= (p.Ser907=)
c.737G= (p.Ser246=)
c.796G=
c.1928G= (p.Ser643=)
c.3056G= (p.Ser1019=)
c.3236G= (p.Ser1079=)
c.2903G= (p.Ser968=)
7g.117611587G>TCA368991751CFTRc.3146G>T (p.Ser1049Ile)
c.*2860G>T (n.*2860G>T)
c.2963G>T (p.Ser988Ile)
c.*1446G>T (n.*1446G>T)
c.*2970G>T (n.*2970G>T)
c.2720G>T (p.Ser907Ile)
c.737G>T (p.Ser246Ile)
c.796G>T
c.1928G>T (p.Ser643Ile)
c.3056G>T (p.Ser1019Ile)
c.3236G>T (p.Ser1079Ile)
c.2903G>T (p.Ser968Ile)
7g.117611588T>ACA368991758CFTRc.3147T>A (p.Ser1049Arg)
c.*2861T>A (n.*2861T>A)
c.2964T>A (p.Ser988Arg)
c.*1447T>A (n.*1447T>A)
c.*2971T>A (n.*2971T>A)
c.2721T>A (p.Ser907Arg)
c.738T>A (p.Ser246Arg)
c.797T>A
c.1929T>A (p.Ser643Arg)
c.3057T>A (p.Ser1019Arg)
c.3237T>A (p.Ser1079Arg)
c.2904T>A (p.Ser968Arg)
7g.117611588T>CCA457229973CFTRc.3147T>C (p.Ser1049=)
c.*2861T>C (n.*2861T>C)
c.2964T>C (p.Ser988=)
c.*1447T>C (n.*1447T>C)
c.*2971T>C (n.*2971T>C)
c.2721T>C (p.Ser907=)
c.738T>C (p.Ser246=)
c.797T>C
c.1929T>C (p.Ser643=)
c.3057T>C (p.Ser1019=)
c.3237T>C (p.Ser1079=)
c.2904T>C (p.Ser968=)
 gnomAD v4
7g.117611588T>GCA368991760CFTRc.3147T>G (p.Ser1049Arg)
c.*2861T>G (n.*2861T>G)
c.2964T>G (p.Ser988Arg)
c.*1447T>G (n.*1447T>G)
c.*2971T>G (n.*2971T>G)
c.2721T>G (p.Ser907Arg)
c.738T>G (p.Ser246Arg)
c.797T>G
c.1929T>G (p.Ser643Arg)
c.3057T>G (p.Ser1019Arg)
c.3237T>G (p.Ser1079Arg)
c.2904T>G (p.Ser968Arg)
 dbSNP
7g.117611588T=CA1737386673CFTRc.3147T= (p.Ser1049=)
c.*2861T= (n.*2861T=)
c.2964T= (p.Ser988=)
c.*1447T= (n.*1447T=)
c.*2971T= (n.*2971T=)
c.2721T= (p.Ser907=)
c.738T= (p.Ser246=)
c.797T=
c.1929T= (p.Ser643=)
c.3057T= (p.Ser1019=)
c.3237T= (p.Ser1079=)
c.2904T= (p.Ser968=)
7g.117611589C>ACA368991766CFTRc.3148C>A (p.Pro1050Thr)
c.*2862C>A (n.*2862C>A)
c.2965C>A (p.Pro989Thr)
c.*1448C>A (n.*1448C>A)
c.*2972C>A (n.*2972C>A)
c.2722C>A (p.Pro908Thr)
c.739C>A (p.Pro247Thr)
c.798C>A
c.1930C>A (p.Pro644Thr)
c.3058C>A (p.Pro1020Thr)
c.3238C>A (p.Pro1080Thr)
c.2905C>A (p.Pro969Thr)
 ClinVar gnomAD v4
7g.117611589C=CA1737386677CFTRc.3148C= (p.Pro1050=)
c.*2862C= (n.*2862C=)
c.2965C= (p.Pro989=)
c.*1448C= (n.*1448C=)
c.*2972C= (n.*2972C=)
c.2722C= (p.Pro908=)
c.739C= (p.Pro247=)
c.798C=
c.1930C= (p.Pro644=)
c.3058C= (p.Pro1020=)
c.3238C= (p.Pro1080=)
c.2905C= (p.Pro969=)
7g.117611589C>GCA164966275CFTRc.3148C>G (p.Pro1050Ala)
c.*2862C>G (n.*2862C>G)
c.2965C>G (p.Pro989Ala)
c.*1448C>G (n.*1448C>G)
c.*2972C>G (n.*2972C>G)
c.2722C>G (p.Pro908Ala)
c.739C>G (p.Pro247Ala)
c.798C>G
c.1930C>G (p.Pro644Ala)
c.3058C>G (p.Pro1020Ala)
c.3238C>G (p.Pro1080Ala)
c.2905C>G (p.Pro969Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117611589C>TCA368991770CFTRc.3148C>T (p.Pro1050Ser)
c.*2862C>T (n.*2862C>T)
c.2965C>T (p.Pro989Ser)
c.*1448C>T (n.*1448C>T)
c.*2972C>T (n.*2972C>T)
c.2722C>T (p.Pro908Ser)
c.739C>T (p.Pro247Ser)
c.798C>T
c.1930C>T (p.Pro644Ser)
c.3058C>T (p.Pro1020Ser)
c.3238C>T (p.Pro1080Ser)
c.2905C>T (p.Pro969Ser)
7g.117611590C>ACA368991772CFTRc.3149C>A (p.Pro1050Gln)
c.*2863C>A (n.*2863C>A)
c.2966C>A (p.Pro989Gln)
c.*1449C>A (n.*1449C>A)
c.*2973C>A (n.*2973C>A)
c.2723C>A (p.Pro908Gln)
c.740C>A (p.Pro247Gln)
c.799C>A
c.1931C>A (p.Pro644Gln)
c.3059C>A (p.Pro1020Gln)
c.3239C>A (p.Pro1080Gln)
c.2906C>A (p.Pro969Gln)
7g.117611590C>GCA368991775CFTRc.3149C>G (p.Pro1050Arg)
c.*2863C>G (n.*2863C>G)
c.2966C>G (p.Pro989Arg)
c.*1449C>G (n.*1449C>G)
c.*2973C>G (n.*2973C>G)
c.2723C>G (p.Pro908Arg)
c.740C>G (p.Pro247Arg)
c.799C>G
c.1931C>G (p.Pro644Arg)
c.3059C>G (p.Pro1020Arg)
c.3239C>G (p.Pro1080Arg)
c.2906C>G (p.Pro969Arg)
7g.117611590C>TCA368991778CFTRc.3149C>T (p.Pro1050Leu)
c.*2863C>T (n.*2863C>T)
c.2966C>T (p.Pro989Leu)
c.*1449C>T (n.*1449C>T)
c.*2973C>T (n.*2973C>T)
c.2723C>T (p.Pro908Leu)
c.740C>T (p.Pro247Leu)
c.799C>T
c.1931C>T (p.Pro644Leu)
c.3059C>T (p.Pro1020Leu)
c.3239C>T (p.Pro1080Leu)
c.2906C>T (p.Pro969Leu)
7g.117611591A>CCA457229974CFTRc.3150A>C (p.Pro1050=)
c.*2864A>C (n.*2864A>C)
c.2967A>C (p.Pro989=)
c.*1450A>C (n.*1450A>C)
c.*2974A>C (n.*2974A>C)
c.2724A>C (p.Pro908=)
c.741A>C (p.Pro247=)
c.800A>C
c.1932A>C (p.Pro644=)
c.3060A>C (p.Pro1020=)
c.3240A>C (p.Pro1080=)
c.2907A>C (p.Pro969=)
7g.117611591A>GCA457229975CFTRc.3150A>G (p.Pro1050=)
c.*2864A>G (n.*2864A>G)
c.2967A>G (p.Pro989=)
c.*1450A>G (n.*1450A>G)
c.*2974A>G (n.*2974A>G)
c.2724A>G (p.Pro908=)
c.741A>G (p.Pro247=)
c.800A>G
c.1932A>G (p.Pro644=)
c.3060A>G (p.Pro1020=)
c.3240A>G (p.Pro1080=)
c.2907A>G (p.Pro969=)
7g.117611591A>TCA457229976CFTRc.3150A>T (p.Pro1050=)
c.*2864A>T (n.*2864A>T)
c.2967A>T (p.Pro989=)
c.*1450A>T (n.*1450A>T)
c.*2974A>T (n.*2974A>T)
c.2724A>T (p.Pro908=)
c.741A>T (p.Pro247=)
c.800A>T
c.1932A>T (p.Pro644=)
c.3060A>T (p.Pro1020=)
c.3240A>T (p.Pro1080=)
c.2907A>T (p.Pro969=)
7g.117611592A=CA1737386681CFTRc.3151A= (p.Ile1051=)
c.*2865A= (n.*2865A=)
c.2968A= (p.Ile990=)
c.*1451A= (n.*1451A=)
c.*2975A= (n.*2975A=)
c.2725A= (p.Ile909=)
c.742A= (p.Ile248=)
c.801A=
c.1933A= (p.Ile645=)
c.3061A= (p.Ile1021=)
c.3241A= (p.Ile1081=)
c.2908A= (p.Ile970=)
7g.117611592A>CCA368991781CFTRc.3151A>C (p.Ile1051Leu)
c.*2865A>C (n.*2865A>C)
c.2968A>C (p.Ile990Leu)
c.*1451A>C (n.*1451A>C)
c.*2975A>C (n.*2975A>C)
c.2725A>C (p.Ile909Leu)
c.742A>C (p.Ile248Leu)
c.801A>C
c.1933A>C (p.Ile645Leu)
c.3061A>C (p.Ile1021Leu)
c.3241A>C (p.Ile1081Leu)
c.2908A>C (p.Ile970Leu)
7g.117611592A>GCA4451403CFTRc.3151A>G (p.Ile1051Val)
c.*2865A>G (n.*2865A>G)
c.2968A>G (p.Ile990Val)
c.*1451A>G (n.*1451A>G)
c.*2975A>G (n.*2975A>G)
c.2725A>G (p.Ile909Val)
c.742A>G (p.Ile248Val)
c.801A>G
c.1933A>G (p.Ile645Val)
c.3061A>G (p.Ile1021Val)
c.3241A>G (p.Ile1081Val)
c.2908A>G (p.Ile970Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611592A>TCA4451404CFTRc.3151A>T (p.Ile1051Phe)
c.*2865A>T (n.*2865A>T)
c.2968A>T (p.Ile990Phe)
c.*1451A>T (n.*1451A>T)
c.*2975A>T (n.*2975A>T)
c.2725A>T (p.Ile909Phe)
c.742A>T (p.Ile248Phe)
c.801A>T
c.1933A>T (p.Ile645Phe)
c.3061A>T (p.Ile1021Phe)
c.3241A>T (p.Ile1081Phe)
c.2908A>T (p.Ile970Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117611593T>ACA368991794CFTRc.3152T>A (p.Ile1051Asn)
c.*2866T>A (n.*2866T>A)
c.2969T>A (p.Ile990Asn)
c.*1452T>A (n.*1452T>A)
c.*2976T>A (n.*2976T>A)
c.2726T>A (p.Ile909Asn)
c.743T>A (p.Ile248Asn)
c.802T>A
c.1934T>A (p.Ile645Asn)
c.3062T>A (p.Ile1021Asn)
c.3242T>A (p.Ile1081Asn)
c.2909T>A (p.Ile970Asn)
7g.117611593T>CCA368991793CFTRc.3152T>C (p.Ile1051Thr)
c.*2866T>C (n.*2866T>C)
c.2969T>C (p.Ile990Thr)
c.*1452T>C (n.*1452T>C)
c.*2976T>C (n.*2976T>C)
c.2726T>C (p.Ile909Thr)
c.743T>C (p.Ile248Thr)
c.802T>C
c.1934T>C (p.Ile645Thr)
c.3062T>C (p.Ile1021Thr)
c.3242T>C (p.Ile1081Thr)
c.2909T>C (p.Ile970Thr)
7g.117611593T>GCA368991788CFTRc.3152T>G (p.Ile1051Ser)
c.*2866T>G (n.*2866T>G)
c.2969T>G (p.Ile990Ser)
c.*1452T>G (n.*1452T>G)
c.*2976T>G (n.*2976T>G)
c.2726T>G (p.Ile909Ser)
c.743T>G (p.Ile248Ser)
c.802T>G
c.1934T>G (p.Ile645Ser)
c.3062T>G (p.Ile1021Ser)
c.3242T>G (p.Ile1081Ser)
c.2909T>G (p.Ile970Ser)
7g.117611594T>ACA457229977CFTRc.3153T>A (p.Ile1051=)
c.*2867T>A (n.*2867T>A)
c.2970T>A (p.Ile990=)
c.*1453T>A (n.*1453T>A)
c.*2977T>A (n.*2977T>A)
c.2727T>A (p.Ile909=)
c.744T>A (p.Ile248=)
c.803T>A
c.1935T>A (p.Ile645=)
c.3063T>A (p.Ile1021=)
c.3243T>A (p.Ile1081=)
c.2910T>A (p.Ile970=)
7g.117611594T>CCA457229978CFTRc.3153T>C (p.Ile1051=)
c.*2867T>C (n.*2867T>C)
c.2970T>C (p.Ile990=)
c.*1453T>C (n.*1453T>C)
c.*2977T>C (n.*2977T>C)
c.2727T>C (p.Ile909=)
c.744T>C (p.Ile248=)
c.803T>C
c.1935T>C (p.Ile645=)
c.3063T>C (p.Ile1021=)
c.3243T>C (p.Ile1081=)
c.2910T>C (p.Ile970=)
7g.117611594T>GCA368991800CFTRc.3153T>G (p.Ile1051Met)
c.*2867T>G (n.*2867T>G)
c.2970T>G (p.Ile990Met)
c.*1453T>G (n.*1453T>G)
c.*2977T>G (n.*2977T>G)
c.2727T>G (p.Ile909Met)
c.744T>G (p.Ile248Met)
c.803T>G
c.1935T>G (p.Ile645Met)
c.3063T>G (p.Ile1021Met)
c.3243T>G (p.Ile1081Met)
c.2910T>G (p.Ile970Met)
7g.117611595T>ACA368991804CFTRc.3154T>A (p.Phe1052Ile)
c.*2868T>A (n.*2868T>A)
c.2971T>A (p.Phe991Ile)
c.*1454T>A (n.*1454T>A)
c.*2978T>A (n.*2978T>A)
c.2728T>A (p.Phe910Ile)
c.745T>A (p.Phe249Ile)
c.804T>A
c.1936T>A (p.Phe646Ile)
c.3064T>A (p.Phe1022Ile)
c.3244T>A (p.Phe1082Ile)
c.2911T>A (p.Phe971Ile)
7g.117611595T>CCA368991806CFTRc.3154T>C (p.Phe1052Leu)
c.*2868T>C (n.*2868T>C)
c.2971T>C (p.Phe991Leu)
c.*1454T>C (n.*1454T>C)
c.*2978T>C (n.*2978T>C)
c.2728T>C (p.Phe910Leu)
c.745T>C (p.Phe249Leu)
c.804T>C
c.1936T>C (p.Phe646Leu)
c.3064T>C (p.Phe1022Leu)
c.3244T>C (p.Phe1082Leu)
c.2911T>C (p.Phe971Leu)
 dbSNP gnomAD v2 gnomAD v4
7g.117611595T>GCA327067CFTRc.3154T>G (p.Phe1052Val)
c.*2868T>G (n.*2868T>G)
c.2971T>G (p.Phe991Val)
c.*1454T>G (n.*1454T>G)
c.*2978T>G (n.*2978T>G)
c.2728T>G (p.Phe910Val)
c.745T>G (p.Phe249Val)
c.804T>G
c.1936T>G (p.Phe646Val)
c.3064T>G (p.Phe1022Val)
c.3244T>G (p.Phe1082Val)
c.2911T>G (p.Phe971Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611595T=CA1737386693CFTRc.3154T= (p.Phe1052=)
c.*2868T= (n.*2868T=)
c.2971T= (p.Phe991=)
c.*1454T= (n.*1454T=)
c.*2978T= (n.*2978T=)
c.2728T= (p.Phe910=)
c.745T= (p.Phe249=)
c.804T=
c.1936T= (p.Phe646=)
c.3064T= (p.Phe1022=)
c.3244T= (p.Phe1082=)
c.2911T= (p.Phe971=)
7g.117611596T>ACA368991814CFTRc.3155T>A (p.Phe1052Tyr)
c.*2869T>A (n.*2869T>A)
c.2972T>A (p.Phe991Tyr)
c.*1455T>A (n.*1455T>A)
c.*2979T>A (n.*2979T>A)
c.2729T>A (p.Phe910Tyr)
c.746T>A (p.Phe249Tyr)
c.805T>A
c.1937T>A (p.Phe646Tyr)
c.3065T>A (p.Phe1022Tyr)
c.3245T>A (p.Phe1082Tyr)
c.2912T>A (p.Phe971Tyr)
7g.117611596T>CCA368991817CFTRc.3155T>C (p.Phe1052Ser)
c.*2869T>C (n.*2869T>C)
c.2972T>C (p.Phe991Ser)
c.*1455T>C (n.*1455T>C)
c.*2979T>C (n.*2979T>C)
c.2729T>C (p.Phe910Ser)
c.746T>C (p.Phe249Ser)
c.805T>C
c.1937T>C (p.Phe646Ser)
c.3065T>C (p.Phe1022Ser)
c.3245T>C (p.Phe1082Ser)
c.2912T>C (p.Phe971Ser)
7g.117611596T>GCA368991820CFTRc.3155T>G (p.Phe1052Cys)
c.*2869T>G (n.*2869T>G)
c.2972T>G (p.Phe991Cys)
c.*1455T>G (n.*1455T>G)
c.*2979T>G (n.*2979T>G)
c.2729T>G (p.Phe910Cys)
c.746T>G (p.Phe249Cys)
c.805T>G
c.1937T>G (p.Phe646Cys)
c.3065T>G (p.Phe1022Cys)
c.3245T>G (p.Phe1082Cys)
c.2912T>G (p.Phe971Cys)
7g.117611597C>ACA368991825CFTRc.3156C>A (p.Phe1052Leu)
c.*2870C>A (n.*2870C>A)
c.2973C>A (p.Phe991Leu)
c.*1456C>A (n.*1456C>A)
c.*2980C>A (n.*2980C>A)
c.2730C>A (p.Phe910Leu)
c.747C>A (p.Phe249Leu)
c.806C>A
c.1938C>A (p.Phe646Leu)
c.3066C>A (p.Phe1022Leu)
c.3246C>A (p.Phe1082Leu)
c.2913C>A (p.Phe971Leu)
7g.117611597C>GCA368991827CFTRc.3156C>G (p.Phe1052Leu)
c.*2870C>G (n.*2870C>G)
c.2973C>G (p.Phe991Leu)
c.*1456C>G (n.*1456C>G)
c.*2980C>G (n.*2980C>G)
c.2730C>G (p.Phe910Leu)
c.747C>G (p.Phe249Leu)
c.806C>G
c.1938C>G (p.Phe646Leu)
c.3066C>G (p.Phe1022Leu)
c.3246C>G (p.Phe1082Leu)
c.2913C>G (p.Phe971Leu)
 gnomAD v4
7g.117611597C>TCA457229979CFTRc.3156C>T (p.Phe1052=)
c.*2870C>T (n.*2870C>T)
c.2973C>T (p.Phe991=)
c.*1456C>T (n.*1456C>T)
c.*2980C>T (n.*2980C>T)
c.2730C>T (p.Phe910=)
c.747C>T (p.Phe249=)
c.806C>T
c.1938C>T (p.Phe646=)
c.3066C>T (p.Phe1022=)
c.3246C>T (p.Phe1082=)
c.2913C>T (p.Phe971=)
 ClinVar
7g.117611598A=CA1737386699CFTRc.3157A= (p.Thr1053=)
c.*2871A= (n.*2871A=)
c.2974A= (p.Thr992=)
c.*1457A= (n.*1457A=)
c.*2981A= (n.*2981A=)
c.2731A= (p.Thr911=)
c.748A= (p.Thr250=)
c.807A=
c.1939A= (p.Thr647=)
c.3067A= (p.Thr1023=)
c.3247A= (p.Thr1083=)
c.2914A= (p.Thr972=)
7g.117611598A>CCA368991832CFTRc.3157A>C (p.Thr1053Pro)
c.*2871A>C (n.*2871A>C)
c.2974A>C (p.Thr992Pro)
c.*1457A>C (n.*1457A>C)
c.*2981A>C (n.*2981A>C)
c.2731A>C (p.Thr911Pro)
c.748A>C (p.Thr250Pro)
c.807A>C
c.1939A>C (p.Thr647Pro)
c.3067A>C (p.Thr1023Pro)
c.3247A>C (p.Thr1083Pro)
c.2914A>C (p.Thr972Pro)
7g.117611598A>GCA368991835CFTRc.3157A>G (p.Thr1053Ala)
c.*2871A>G (n.*2871A>G)
c.2974A>G (p.Thr992Ala)
c.*1457A>G (n.*1457A>G)
c.*2981A>G (n.*2981A>G)
c.2731A>G (p.Thr911Ala)
c.748A>G (p.Thr250Ala)
c.807A>G
c.1939A>G (p.Thr647Ala)
c.3067A>G (p.Thr1023Ala)
c.3247A>G (p.Thr1083Ala)
c.2914A>G (p.Thr972Ala)
7g.117611598A>TCA368991838CFTRc.3157A>T (p.Thr1053Ser)
c.*2871A>T (n.*2871A>T)
c.2974A>T (p.Thr992Ser)
c.*1457A>T (n.*1457A>T)
c.*2981A>T (n.*2981A>T)
c.2731A>T (p.Thr911Ser)
c.748A>T (p.Thr250Ser)
c.807A>T
c.1939A>T (p.Thr647Ser)
c.3067A>T (p.Thr1023Ser)
c.3247A>T (p.Thr1083Ser)
c.2914A>T (p.Thr972Ser)
 ClinVar dbSNP
7g.117611599C>ACA368991849CFTRc.3158C>A (p.Thr1053Asn)
c.*2872C>A (n.*2872C>A)
c.2975C>A (p.Thr992Asn)
c.*1458C>A (n.*1458C>A)
c.*2982C>A (n.*2982C>A)
c.2732C>A (p.Thr911Asn)
c.749C>A (p.Thr250Asn)
c.808C>A
c.1940C>A (p.Thr647Asn)
c.3068C>A (p.Thr1023Asn)
c.3248C>A (p.Thr1083Asn)
c.2915C>A (p.Thr972Asn)
 gnomAD v4
7g.117611599C=CA1737386707CFTRc.3158C= (p.Thr1053=)
c.*2872C= (n.*2872C=)
c.2975C= (p.Thr992=)
c.*1458C= (n.*1458C=)
c.*2982C= (n.*2982C=)
c.2732C= (p.Thr911=)
c.749C= (p.Thr250=)
c.808C=
c.1940C= (p.Thr647=)
c.3068C= (p.Thr1023=)
c.3248C= (p.Thr1083=)
c.2915C= (p.Thr972=)
7g.117611599C>GCA368991844CFTRc.3158C>G (p.Thr1053Ser)
c.*2872C>G (n.*2872C>G)
c.2975C>G (p.Thr992Ser)
c.*1458C>G (n.*1458C>G)
c.*2982C>G (n.*2982C>G)
c.2732C>G (p.Thr911Ser)
c.749C>G (p.Thr250Ser)
c.808C>G
c.1940C>G (p.Thr647Ser)
c.3068C>G (p.Thr1023Ser)
c.3248C>G (p.Thr1083Ser)
c.2915C>G (p.Thr972Ser)
 dbSNP gnomAD v3 gnomAD v4
7g.117611599C>TCA327068CFTRc.3158C>T (p.Thr1053Ile)
c.*2872C>T (n.*2872C>T)
c.2975C>T (p.Thr992Ile)
c.*1458C>T (n.*1458C>T)
c.*2982C>T (n.*2982C>T)
c.2732C>T (p.Thr911Ile)
c.749C>T (p.Thr250Ile)
c.808C>T
c.1940C>T (p.Thr647Ile)
c.3068C>T (p.Thr1023Ile)
c.3248C>T (p.Thr1083Ile)
c.2915C>T (p.Thr972Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611600T>ACA457229980CFTRc.3159T>A (p.Thr1053=)
c.*2873T>A (n.*2873T>A)
c.2976T>A (p.Thr992=)
c.*1459T>A (n.*1459T>A)
c.*2983T>A (n.*2983T>A)
c.2733T>A (p.Thr911=)
c.750T>A (p.Thr250=)
c.809T>A
c.1941T>A (p.Thr647=)
c.3069T>A (p.Thr1023=)
c.3249T>A (p.Thr1083=)
c.2916T>A (p.Thr972=)
 ClinVar dbSNP
7g.117611600T>CCA457229981CFTRc.3159T>C (p.Thr1053=)
c.*2873T>C (n.*2873T>C)
c.2976T>C (p.Thr992=)
c.*1459T>C (n.*1459T>C)
c.*2983T>C (n.*2983T>C)
c.2733T>C (p.Thr911=)
c.750T>C (p.Thr250=)
c.809T>C
c.1941T>C (p.Thr647=)
c.3069T>C (p.Thr1023=)
c.3249T>C (p.Thr1083=)
c.2916T>C (p.Thr972=)
 dbSNP gnomAD v3 gnomAD v4
7g.117611600T>GCA457229982CFTRc.3159T>G (p.Thr1053=)
c.*2873T>G (n.*2873T>G)
c.2976T>G (p.Thr992=)
c.*1459T>G (n.*1459T>G)
c.*2983T>G (n.*2983T>G)
c.2733T>G (p.Thr911=)
c.750T>G (p.Thr250=)
c.809T>G
c.1941T>G (p.Thr647=)
c.3069T>G (p.Thr1023=)
c.3249T>G (p.Thr1083=)
c.2916T>G (p.Thr972=)
 COSMIC
7g.117611600T=CA1737386713CFTRc.3159T= (p.Thr1053=)
c.*2873T= (n.*2873T=)
c.2976T= (p.Thr992=)
c.*1459T= (n.*1459T=)
c.*2983T= (n.*2983T=)
c.2733T= (p.Thr911=)
c.750T= (p.Thr250=)
c.809T=
c.1941T= (p.Thr647=)
c.3069T= (p.Thr1023=)
c.3249T= (p.Thr1083=)
c.2916T= (p.Thr972=)
7g.117611601C>ACA368991852CFTRc.3160C>A (p.His1054Asn)
c.*2874C>A (n.*2874C>A)
c.2977C>A (p.His993Asn)
c.*1460C>A (n.*1460C>A)
c.*2984C>A (n.*2984C>A)
c.2734C>A (p.His912Asn)
c.751C>A (p.His251Asn)
c.810C>A
c.1942C>A (p.His648Asn)
c.3070C>A (p.His1024Asn)
c.3250C>A (p.His1084Asn)
c.2917C>A (p.His973Asn)
7g.117611601C=CA1737386722CFTRc.3160C= (p.His1054=)
c.*2874C= (n.*2874C=)
c.2977C= (p.His993=)
c.*1460C= (n.*1460C=)
c.*2984C= (n.*2984C=)
c.2734C= (p.His912=)
c.751C= (p.His251=)
c.810C=
c.1942C= (p.His648=)
c.3070C= (p.His1024=)
c.3250C= (p.His1084=)
c.2917C= (p.His973=)
7g.117611601C>GCA327070CFTRc.3160C>G (p.His1054Asp)
c.*2874C>G (n.*2874C>G)
c.2977C>G (p.His993Asp)
c.*1460C>G (n.*1460C>G)
c.*2984C>G (n.*2984C>G)
c.2734C>G (p.His912Asp)
c.751C>G (p.His251Asp)
c.810C>G
c.1942C>G (p.His648Asp)
c.3070C>G (p.His1024Asp)
c.3250C>G (p.His1084Asp)
c.2917C>G (p.His973Asp)
 ClinVar dbSNP gnomAD v4
7g.117611601C>TCA368991857CFTRc.3160C>T (p.His1054Tyr)
c.*2874C>T (n.*2874C>T)
c.2977C>T (p.His993Tyr)
c.*1460C>T (n.*1460C>T)
c.*2984C>T (n.*2984C>T)
c.2734C>T (p.His912Tyr)
c.751C>T (p.His251Tyr)
c.810C>T
c.1942C>T (p.His648Tyr)
c.3070C>T (p.His1024Tyr)
c.3250C>T (p.His1084Tyr)
c.2917C>T (p.His973Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117611601_117611602delinsCACA1737386717CFTRc.3160_3161delinsCA (p.His1054=)
c.*2874_*2875delinsCA (n.*2874_*2875delinsCA)
c.2977_2978delinsCA (p.His993=)
c.*1460_*1461delinsCA (n.*1460_*1461delinsCA)
c.*2984_*2985delinsCA (n.*2984_*2985delinsCA)
c.2734_2735delinsCA (p.His912=)
c.751_752delinsCA (p.His251=)
c.810_811delinsCA
c.1942_1943delinsCA (p.His648=)
c.3070_3071delinsCA (p.His1024=)
c.3250_3251delinsCA (p.His1084=)
c.2917_2918delinsCA (p.His973=)
7g.117611602delCA325607CFTRc.3161del (p.His1054LeufsTer6)
c.*2875del (n.*2875del)
c.2978del (p.His993LeufsTer6)
c.*1461del (n.*1461del)
c.*2985del (n.*2985del)
c.2735del (p.His912LeufsTer6)
c.752del (p.His251LeufsTer6)
c.811del
c.1943del (p.His648LeufsTer6)
c.3071del (p.His1024LeufsTer6)
c.3251del (p.His1084LeufsTer6)
c.2918del (p.His973LeufsTer6)
 ClinVar dbSNP
7g.117611602A=CA1737386729CFTRc.3161A= (p.His1054=)
c.*2875A= (n.*2875A=)
c.2978A= (p.His993=)
c.*1461A= (n.*1461A=)
c.*2985A= (n.*2985A=)
c.2735A= (p.His912=)
c.752A= (p.His251=)
c.811A=
c.1943A= (p.His648=)
c.3071A= (p.His1024=)
c.3251A= (p.His1084=)
c.2918A= (p.His973=)
7g.117611602A>CCA368991862CFTRc.3161A>C (p.His1054Pro)
c.*2875A>C (n.*2875A>C)
c.2978A>C (p.His993Pro)
c.*1461A>C (n.*1461A>C)
c.*2985A>C (n.*2985A>C)
c.2735A>C (p.His912Pro)
c.752A>C (p.His251Pro)
c.811A>C
c.1943A>C (p.His648Pro)
c.3071A>C (p.His1024Pro)
c.3251A>C (p.His1084Pro)
c.2918A>C (p.His973Pro)
 gnomAD v4
7g.117611602A>GCA368991865CFTRc.3161A>G (p.His1054Arg)
c.*2875A>G (n.*2875A>G)
c.2978A>G (p.His993Arg)
c.*1461A>G (n.*1461A>G)
c.*2985A>G (n.*2985A>G)
c.2735A>G (p.His912Arg)
c.752A>G (p.His251Arg)
c.811A>G
c.1943A>G (p.His648Arg)
c.3071A>G (p.His1024Arg)
c.3251A>G (p.His1084Arg)
c.2918A>G (p.His973Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.117611602A>TCA368991868CFTRc.3161A>T (p.His1054Leu)
c.*2875A>T (n.*2875A>T)
c.2978A>T (p.His993Leu)
c.*1461A>T (n.*1461A>T)
c.*2985A>T (n.*2985A>T)
c.2735A>T (p.His912Leu)
c.752A>T (p.His251Leu)
c.811A>T
c.1943A>T (p.His648Leu)
c.3071A>T (p.His1024Leu)
c.3251A>T (p.His1084Leu)
c.2918A>T (p.His973Leu)
 ClinVar dbSNP gnomAD v4
7g.117611603T>ACA4451405CFTRc.3162T>A (p.His1054Gln)
c.*2876T>A (n.*2876T>A)
c.2979T>A (p.His993Gln)
c.*1462T>A (n.*1462T>A)
c.*2986T>A (n.*2986T>A)
c.2736T>A (p.His912Gln)
c.753T>A (p.His251Gln)
c.812T>A
c.1944T>A (p.His648Gln)
c.3072T>A (p.His1024Gln)
c.3252T>A (p.His1084Gln)
c.2919T>A (p.His973Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611603T>CCA457229983CFTRc.3162T>C (p.His1054=)
c.*2876T>C (n.*2876T>C)
c.2979T>C (p.His993=)
c.*1462T>C (n.*1462T>C)
c.*2986T>C (n.*2986T>C)
c.2736T>C (p.His912=)
c.753T>C (p.His251=)
c.812T>C
c.1944T>C (p.His648=)
c.3072T>C (p.His1024=)
c.3252T>C (p.His1084=)
c.2919T>C (p.His973=)
 ClinVar dbSNP
7g.117611603T>GCA368991875CFTRc.3162T>G (p.His1054Gln)
c.*2876T>G (n.*2876T>G)
c.2979T>G (p.His993Gln)
c.*1462T>G (n.*1462T>G)
c.*2986T>G (n.*2986T>G)
c.2736T>G (p.His912Gln)
c.753T>G (p.His251Gln)
c.812T>G
c.1944T>G (p.His648Gln)
c.3072T>G (p.His1024Gln)
c.3252T>G (p.His1084Gln)
c.2919T>G (p.His973Gln)
7g.117611603T=CA1737386734CFTRc.3162T= (p.His1054=)
c.*2876T= (n.*2876T=)
c.2979T= (p.His993=)
c.*1462T= (n.*1462T=)
c.*2986T= (n.*2986T=)
c.2736T= (p.His912=)
c.753T= (p.His251=)
c.812T=
c.1944T= (p.His648=)
c.3072T= (p.His1024=)
c.3252T= (p.His1084=)
c.2919T= (p.His973=)
7g.117611604C>ACA368991880CFTRc.3163C>A (p.Leu1055Ile)
c.*2877C>A (n.*2877C>A)
c.2980C>A (p.Leu994Ile)
c.*1463C>A (n.*1463C>A)
c.*2987C>A (n.*2987C>A)
c.2737C>A (p.Leu913Ile)
c.754C>A (p.Leu252Ile)
c.813C>A
c.1945C>A (p.Leu649Ile)
c.3073C>A (p.Leu1025Ile)
c.3253C>A (p.Leu1085Ile)
c.2920C>A (p.Leu974Ile)
7g.117611604C>GCA368991883CFTRc.3163C>G (p.Leu1055Val)
c.*2877C>G (n.*2877C>G)
c.2980C>G (p.Leu994Val)
c.*1463C>G (n.*1463C>G)
c.*2987C>G (n.*2987C>G)
c.2737C>G (p.Leu913Val)
c.754C>G (p.Leu252Val)
c.813C>G
c.1945C>G (p.Leu649Val)
c.3073C>G (p.Leu1025Val)
c.3253C>G (p.Leu1085Val)
c.2920C>G (p.Leu974Val)
7g.117611604C>TCA368991886CFTRc.3163C>T (p.Leu1055Phe)
c.*2877C>T (n.*2877C>T)
c.2980C>T (p.Leu994Phe)
c.*1463C>T (n.*1463C>T)
c.*2987C>T (n.*2987C>T)
c.2737C>T (p.Leu913Phe)
c.754C>T (p.Leu252Phe)
c.813C>T
c.1945C>T (p.Leu649Phe)
c.3073C>T (p.Leu1025Phe)
c.3253C>T (p.Leu1085Phe)
c.2920C>T (p.Leu974Phe)
7g.117611605T>ACA368991894CFTRc.3164T>A (p.Leu1055His)
c.*2878T>A (n.*2878T>A)
c.2981T>A (p.Leu994His)
c.*1464T>A (n.*1464T>A)
c.*2988T>A (n.*2988T>A)
c.2738T>A (p.Leu913His)
c.755T>A (p.Leu252His)
c.814T>A
c.1946T>A (p.Leu649His)
c.3074T>A (p.Leu1025His)
c.3254T>A (p.Leu1085His)
c.2921T>A (p.Leu974His)
7g.117611605T>CCA368991892CFTRc.3164T>C (p.Leu1055Pro)
c.*2878T>C (n.*2878T>C)
c.2981T>C (p.Leu994Pro)
c.*1464T>C (n.*1464T>C)
c.*2988T>C (n.*2988T>C)
c.2738T>C (p.Leu913Pro)
c.755T>C (p.Leu252Pro)
c.814T>C
c.1946T>C (p.Leu649Pro)
c.3074T>C (p.Leu1025Pro)
c.3254T>C (p.Leu1085Pro)
c.2921T>C (p.Leu974Pro)
 dbSNP
7g.117611605T>GCA368991890CFTRc.3164T>G (p.Leu1055Arg)
c.*2878T>G (n.*2878T>G)
c.2981T>G (p.Leu994Arg)
c.*1464T>G (n.*1464T>G)
c.*2988T>G (n.*2988T>G)
c.2738T>G (p.Leu913Arg)
c.755T>G (p.Leu252Arg)
c.814T>G
c.1946T>G (p.Leu649Arg)
c.3074T>G (p.Leu1025Arg)
c.3254T>G (p.Leu1085Arg)
c.2921T>G (p.Leu974Arg)
7g.117611606T>ACA457229984CFTRc.3165T>A (p.Leu1055=)
c.*2879T>A (n.*2879T>A)
c.2982T>A (p.Leu994=)
c.*1465T>A (n.*1465T>A)
c.*2989T>A (n.*2989T>A)
c.2739T>A (p.Leu913=)
c.756T>A (p.Leu252=)
c.815T>A
c.1947T>A (p.Leu649=)
c.3075T>A (p.Leu1025=)
c.3255T>A (p.Leu1085=)
c.2922T>A (p.Leu974=)
7g.117611606T>CCA457229985CFTRc.3165T>C (p.Leu1055=)
c.*2879T>C (n.*2879T>C)
c.2982T>C (p.Leu994=)
c.*1465T>C (n.*1465T>C)
c.*2989T>C (n.*2989T>C)
c.2739T>C (p.Leu913=)
c.756T>C (p.Leu252=)
c.815T>C
c.1947T>C (p.Leu649=)
c.3075T>C (p.Leu1025=)
c.3255T>C (p.Leu1085=)
c.2922T>C (p.Leu974=)
 dbSNP
7g.117611606T>GCA457229986CFTRc.3165T>G (p.Leu1055=)
c.*2879T>G (n.*2879T>G)
c.2982T>G (p.Leu994=)
c.*1465T>G (n.*1465T>G)
c.*2989T>G (n.*2989T>G)
c.2739T>G (p.Leu913=)
c.756T>G (p.Leu252=)
c.815T>G
c.1947T>G (p.Leu649=)
c.3075T>G (p.Leu1025=)
c.3255T>G (p.Leu1085=)
c.2922T>G (p.Leu974=)
7g.117611606T=CA1737386737CFTRc.3165T= (p.Leu1055=)
c.*2879T= (n.*2879T=)
c.2982T= (p.Leu994=)
c.*1465T= (n.*1465T=)
c.*2989T= (n.*2989T=)
c.2739T= (p.Leu913=)
c.756T= (p.Leu252=)
c.815T=
c.1947T= (p.Leu649=)
c.3075T= (p.Leu1025=)
c.3255T= (p.Leu1085=)
c.2922T= (p.Leu974=)
7g.117611607G>ACA368991896CFTRc.3166G>A (p.Val1056Ile)
c.*2880G>A (n.*2880G>A)
c.2983G>A (p.Val995Ile)
c.*1466G>A (n.*1466G>A)
c.*2990G>A (n.*2990G>A)
c.2740G>A (p.Val914Ile)
c.757G>A (p.Val253Ile)
c.816G>A
c.1948G>A (p.Val650Ile)
c.3076G>A (p.Val1026Ile)
c.3256G>A (p.Val1086Ile)
c.2923G>A (p.Val975Ile)
 dbSNP
7g.117611607G>CCA368991898CFTRc.3166G>C (p.Val1056Leu)
c.*2880G>C (n.*2880G>C)
c.2983G>C (p.Val995Leu)
c.*1466G>C (n.*1466G>C)
c.*2990G>C (n.*2990G>C)
c.2740G>C (p.Val914Leu)
c.757G>C (p.Val253Leu)
c.816G>C
c.1948G>C (p.Val650Leu)
c.3076G>C (p.Val1026Leu)
c.3256G>C (p.Val1086Leu)
c.2923G>C (p.Val975Leu)
 gnomAD v4
7g.117611607G=CA1737386739CFTRc.3166G= (p.Val1056=)
c.*2880G= (n.*2880G=)
c.2983G= (p.Val995=)
c.*1466G= (n.*1466G=)
c.*2990G= (n.*2990G=)
c.2740G= (p.Val914=)
c.757G= (p.Val253=)
c.816G=
c.1948G= (p.Val650=)
c.3076G= (p.Val1026=)
c.3256G= (p.Val1086=)
c.2923G= (p.Val975=)
7g.117611607G>TCA368991900CFTRc.3166G>T (p.Val1056Phe)
c.*2880G>T (n.*2880G>T)
c.2983G>T (p.Val995Phe)
c.*1466G>T (n.*1466G>T)
c.*2990G>T (n.*2990G>T)
c.2740G>T (p.Val914Phe)
c.757G>T (p.Val253Phe)
c.816G>T
c.1948G>T (p.Val650Phe)
c.3076G>T (p.Val1026Phe)
c.3256G>T (p.Val1086Phe)
c.2923G>T (p.Val975Phe)
 dbSNP
7g.117611608T>ACA368991902CFTRc.3167T>A (p.Val1056Asp)
c.*2881T>A (n.*2881T>A)
c.2984T>A (p.Val995Asp)
c.*1467T>A (n.*1467T>A)
c.*2991T>A (n.*2991T>A)
c.2741T>A (p.Val914Asp)
c.758T>A (p.Val253Asp)
c.817T>A
c.1949T>A (p.Val650Asp)
c.3077T>A (p.Val1026Asp)
c.3257T>A (p.Val1086Asp)
c.2924T>A (p.Val975Asp)
7g.117611608T>CCA368991905CFTRc.3167T>C (p.Val1056Ala)
c.*2881T>C (n.*2881T>C)
c.2984T>C (p.Val995Ala)
c.*1467T>C (n.*1467T>C)
c.*2991T>C (n.*2991T>C)
c.2741T>C (p.Val914Ala)
c.758T>C (p.Val253Ala)
c.817T>C
c.1949T>C (p.Val650Ala)
c.3077T>C (p.Val1026Ala)
c.3257T>C (p.Val1086Ala)
c.2924T>C (p.Val975Ala)
 ClinVar dbSNP
7g.117611608T>GCA368991907CFTRc.3167T>G (p.Val1056Gly)
c.*2881T>G (n.*2881T>G)
c.2984T>G (p.Val995Gly)
c.*1467T>G (n.*1467T>G)
c.*2991T>G (n.*2991T>G)
c.2741T>G (p.Val914Gly)
c.758T>G (p.Val253Gly)
c.817T>G
c.1949T>G (p.Val650Gly)
c.3077T>G (p.Val1026Gly)
c.3257T>G (p.Val1086Gly)
c.2924T>G (p.Val975Gly)
7g.117611609delCA2580076363CFTRc.3168del (p.Thr1057GlnfsTer3)
c.*2882del (n.*2882del)
c.2985del (p.Thr996GlnfsTer3)
c.*1468del (n.*1468del)
c.*2992del (n.*2992del)
c.2742del (p.Thr915GlnfsTer3)
c.759del (p.Thr254GlnfsTer3)
c.818del
c.1950del (p.Thr651GlnfsTer3)
c.3078del (p.Thr1027GlnfsTer3)
c.3258del (p.Thr1087GlnfsTer3)
c.2925del (p.Thr976GlnfsTer3)
 ClinVar
7g.117611609T>ACA457229987CFTRc.3168T>A (p.Val1056=)
c.*2882T>A (n.*2882T>A)
c.2985T>A (p.Val995=)
c.*1468T>A (n.*1468T>A)
c.*2992T>A (n.*2992T>A)
c.2742T>A (p.Val914=)
c.759T>A (p.Val253=)
c.818T>A
c.1950T>A (p.Val650=)
c.3078T>A (p.Val1026=)
c.3258T>A (p.Val1086=)
c.2925T>A (p.Val975=)
7g.117611609T>CCA457229988CFTRc.3168T>C (p.Val1056=)
c.*2882T>C (n.*2882T>C)
c.2985T>C (p.Val995=)
c.*1468T>C (n.*1468T>C)
c.*2992T>C (n.*2992T>C)
c.2742T>C (p.Val914=)
c.759T>C (p.Val253=)
c.818T>C
c.1950T>C (p.Val650=)
c.3078T>C (p.Val1026=)
c.3258T>C (p.Val1086=)
c.2925T>C (p.Val975=)
7g.117611609T>GCA457229989CFTRc.3168T>G (p.Val1056=)
c.*2882T>G (n.*2882T>G)
c.2985T>G (p.Val995=)
c.*1468T>G (n.*1468T>G)
c.*2992T>G (n.*2992T>G)
c.2742T>G (p.Val914=)
c.759T>G (p.Val253=)
c.818T>G
c.1950T>G (p.Val650=)
c.3078T>G (p.Val1026=)
c.3258T>G (p.Val1086=)
c.2925T>G (p.Val975=)
7g.117611610A=CA1737386747CFTRc.3169A= (p.Thr1057=)
c.*2883A= (n.*2883A=)
c.2986A= (p.Thr996=)
c.*1469A= (n.*1469A=)
c.*2993A= (n.*2993A=)
c.2743A= (p.Thr915=)
c.760A= (p.Thr254=)
c.819A=
c.1951A= (p.Thr651=)
c.3079A= (p.Thr1027=)
c.3259A= (p.Thr1087=)
c.2926A= (p.Thr976=)
7g.117611610A>CCA368991908CFTRc.3169A>C (p.Thr1057Pro)
c.*2883A>C (n.*2883A>C)
c.2986A>C (p.Thr996Pro)
c.*1469A>C (n.*1469A>C)
c.*2993A>C (n.*2993A>C)
c.2743A>C (p.Thr915Pro)
c.760A>C (p.Thr254Pro)
c.819A>C
c.1951A>C (p.Thr651Pro)
c.3079A>C (p.Thr1027Pro)
c.3259A>C (p.Thr1087Pro)
c.2926A>C (p.Thr976Pro)
7g.117611610A>GCA327072CFTRc.3169A>G (p.Thr1057Ala)
c.*2883A>G (n.*2883A>G)
c.2986A>G (p.Thr996Ala)
c.*1469A>G (n.*1469A>G)
c.*2993A>G (n.*2993A>G)
c.2743A>G (p.Thr915Ala)
c.760A>G (p.Thr254Ala)
c.819A>G
c.1951A>G (p.Thr651Ala)
c.3079A>G (p.Thr1027Ala)
c.3259A>G (p.Thr1087Ala)
c.2926A>G (p.Thr976Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611610A>TCA368991912CFTRc.3169A>T (p.Thr1057Ser)
c.*2883A>T (n.*2883A>T)
c.2986A>T (p.Thr996Ser)
c.*1469A>T (n.*1469A>T)
c.*2993A>T (n.*2993A>T)
c.2743A>T (p.Thr915Ser)
c.760A>T (p.Thr254Ser)
c.819A>T
c.1951A>T (p.Thr651Ser)
c.3079A>T (p.Thr1027Ser)
c.3259A>T (p.Thr1087Ser)
c.2926A>T (p.Thr976Ser)
7g.117611611C>ACA368991916CFTRc.3170C>A (p.Thr1057Lys)
c.*2884C>A (n.*2884C>A)
c.2987C>A (p.Thr996Lys)
c.*1470C>A (n.*1470C>A)
c.*2994C>A (n.*2994C>A)
c.2744C>A (p.Thr915Lys)
c.761C>A (p.Thr254Lys)
c.820C>A
c.1952C>A (p.Thr651Lys)
c.3080C>A (p.Thr1027Lys)
c.3260C>A (p.Thr1087Lys)
c.2927C>A (p.Thr976Lys)
7g.117611611C>GCA368991917CFTRc.3170C>G (p.Thr1057Arg)
c.*2884C>G (n.*2884C>G)
c.2987C>G (p.Thr996Arg)
c.*1470C>G (n.*1470C>G)
c.*2994C>G (n.*2994C>G)
c.2744C>G (p.Thr915Arg)
c.761C>G (p.Thr254Arg)
c.820C>G
c.1952C>G (p.Thr651Arg)
c.3080C>G (p.Thr1027Arg)
c.3260C>G (p.Thr1087Arg)
c.2927C>G (p.Thr976Arg)
 gnomAD v4
7g.117611611C>TCA368991919CFTRc.3170C>T (p.Thr1057Ile)
c.*2884C>T (n.*2884C>T)
c.2987C>T (p.Thr996Ile)
c.*1470C>T (n.*1470C>T)
c.*2994C>T (n.*2994C>T)
c.2744C>T (p.Thr915Ile)
c.761C>T (p.Thr254Ile)
c.820C>T
c.1952C>T (p.Thr651Ile)
c.3080C>T (p.Thr1027Ile)
c.3260C>T (p.Thr1087Ile)
c.2927C>T (p.Thr976Ile)
 gnomAD v4
7g.117611612A>CCA457229990CFTRc.3171A>C (p.Thr1057=)
c.*2885A>C (n.*2885A>C)
c.2988A>C (p.Thr996=)
c.*1471A>C (n.*1471A>C)
c.*2995A>C (n.*2995A>C)
c.2745A>C (p.Thr915=)
c.762A>C (p.Thr254=)
c.821A>C
c.1953A>C (p.Thr651=)
c.3081A>C (p.Thr1027=)
c.3261A>C (p.Thr1087=)
c.2928A>C (p.Thr976=)
7g.117611612A>GCA457229991CFTRc.3171A>G (p.Thr1057=)
c.*2885A>G (n.*2885A>G)
c.2988A>G (p.Thr996=)
c.*1471A>G (n.*1471A>G)
c.*2995A>G (n.*2995A>G)
c.2745A>G (p.Thr915=)
c.762A>G (p.Thr254=)
c.821A>G
c.1953A>G (p.Thr651=)
c.3081A>G (p.Thr1027=)
c.3261A>G (p.Thr1087=)
c.2928A>G (p.Thr976=)
7g.117611612A>TCA457229992CFTRc.3171A>T (p.Thr1057=)
c.*2885A>T (n.*2885A>T)
c.2988A>T (p.Thr996=)
c.*1471A>T (n.*1471A>T)
c.*2995A>T (n.*2995A>T)
c.2745A>T (p.Thr915=)
c.762A>T (p.Thr254=)
c.821A>T
c.1953A>T (p.Thr651=)
c.3081A>T (p.Thr1027=)
c.3261A>T (p.Thr1087=)
c.2928A>T (p.Thr976=)
7g.117611613A>CCA368991922CFTRc.3172A>C (p.Ser1058Arg)
c.*2886A>C (n.*2886A>C)
c.2989A>C (p.Ser997Arg)
c.*1472A>C (n.*1472A>C)
c.*2996A>C (n.*2996A>C)
c.2746A>C (p.Ser916Arg)
c.763A>C (p.Ser255Arg)
c.822A>C
c.1954A>C (p.Ser652Arg)
c.3082A>C (p.Ser1028Arg)
c.3262A>C (p.Ser1088Arg)
c.2929A>C (p.Ser977Arg)
7g.117611613A>GCA368991927CFTRc.3172A>G (p.Ser1058Gly)
c.*2886A>G (n.*2886A>G)
c.2989A>G (p.Ser997Gly)
c.*1472A>G (n.*1472A>G)
c.*2996A>G (n.*2996A>G)
c.2746A>G (p.Ser916Gly)
c.763A>G (p.Ser255Gly)
c.822A>G
c.1954A>G (p.Ser652Gly)
c.3082A>G (p.Ser1028Gly)
c.3262A>G (p.Ser1088Gly)
c.2929A>G (p.Ser977Gly)
7g.117611613A>TCA368991925CFTRc.3172A>T (p.Ser1058Cys)
c.*2886A>T (n.*2886A>T)
c.2989A>T (p.Ser997Cys)
c.*1472A>T (n.*1472A>T)
c.*2996A>T (n.*2996A>T)
c.2746A>T (p.Ser916Cys)
c.763A>T (p.Ser255Cys)
c.822A>T
c.1954A>T (p.Ser652Cys)
c.3082A>T (p.Ser1028Cys)
c.3262A>T (p.Ser1088Cys)
c.2929A>T (p.Ser977Cys)
7g.117611614G>ACA368991929CFTRc.3173G>A (p.Ser1058Asn)
c.*2887G>A (n.*2887G>A)
c.2990G>A (p.Ser997Asn)
c.*1473G>A (n.*1473G>A)
c.*2997G>A (n.*2997G>A)
c.2747G>A (p.Ser916Asn)
c.764G>A (p.Ser255Asn)
c.823G>A
c.1955G>A (p.Ser652Asn)
c.3083G>A (p.Ser1028Asn)
c.3263G>A (p.Ser1088Asn)
c.2930G>A (p.Ser977Asn)
7g.117611614G>CCA368991932CFTRc.3173G>C (p.Ser1058Thr)
c.*2887G>C (n.*2887G>C)
c.2990G>C (p.Ser997Thr)
c.*1473G>C (n.*1473G>C)
c.*2997G>C (n.*2997G>C)
c.2747G>C (p.Ser916Thr)
c.764G>C (p.Ser255Thr)
c.823G>C
c.1955G>C (p.Ser652Thr)
c.3083G>C (p.Ser1028Thr)
c.3263G>C (p.Ser1088Thr)
c.2930G>C (p.Ser977Thr)
7g.117611614G>TCA368991931CFTRc.3173G>T (p.Ser1058Ile)
c.*2887G>T (n.*2887G>T)
c.2990G>T (p.Ser997Ile)
c.*1473G>T (n.*1473G>T)
c.*2997G>T (n.*2997G>T)
c.2747G>T (p.Ser916Ile)
c.764G>T (p.Ser255Ile)
c.823G>T
c.1955G>T (p.Ser652Ile)
c.3083G>T (p.Ser1028Ile)
c.3263G>T (p.Ser1088Ile)
c.2930G>T (p.Ser977Ile)
7g.117611615C>ACA368991934CFTRc.3174C>A (p.Ser1058Arg)
c.*2888C>A (n.*2888C>A)
c.2991C>A (p.Ser997Arg)
c.*1474C>A (n.*1474C>A)
c.*2998C>A (n.*2998C>A)
c.2748C>A (p.Ser916Arg)
c.765C>A (p.Ser255Arg)
c.824C>A
c.1956C>A (p.Ser652Arg)
c.3084C>A (p.Ser1028Arg)
c.3264C>A (p.Ser1088Arg)
c.2931C>A (p.Ser977Arg)
 gnomAD v4
7g.117611615C=CA1737386765CFTRc.3174C= (p.Ser1058=)
c.*2888C= (n.*2888C=)
c.2991C= (p.Ser997=)
c.*1474C= (n.*1474C=)
c.*2998C= (n.*2998C=)
c.2748C= (p.Ser916=)
c.765C= (p.Ser255=)
c.824C=
c.1956C= (p.Ser652=)
c.3084C= (p.Ser1028=)
c.3264C= (p.Ser1088=)
c.2931C= (p.Ser977=)
7g.117611615C>GCA368991937CFTRc.3174C>G (p.Ser1058Arg)
c.*2888C>G (n.*2888C>G)
c.2991C>G (p.Ser997Arg)
c.*1474C>G (n.*1474C>G)
c.*2998C>G (n.*2998C>G)
c.2748C>G (p.Ser916Arg)
c.765C>G (p.Ser255Arg)
c.824C>G
c.1956C>G (p.Ser652Arg)
c.3084C>G (p.Ser1028Arg)
c.3264C>G (p.Ser1088Arg)
c.2931C>G (p.Ser977Arg)
7g.117611615C>TCA457229993CFTRc.3174C>T (p.Ser1058=)
c.*2888C>T (n.*2888C>T)
c.2991C>T (p.Ser997=)
c.*1474C>T (n.*1474C>T)
c.*2998C>T (n.*2998C>T)
c.2748C>T (p.Ser916=)
c.765C>T (p.Ser255=)
c.824C>T
c.1956C>T (p.Ser652=)
c.3084C>T (p.Ser1028=)
c.3264C>T (p.Ser1088=)
c.2931C>T (p.Ser977=)
 ClinVar dbSNP
7g.117611616T>ACA368991939CFTRc.3175T>A (p.Leu1059Ile)
c.*2889T>A (n.*2889T>A)
c.2992T>A (p.Leu998Ile)
c.*1475T>A (n.*1475T>A)
c.*2999T>A (n.*2999T>A)
c.2749T>A (p.Leu917Ile)
c.766T>A (p.Leu256Ile)
c.825T>A
c.1957T>A (p.Leu653Ile)
c.3085T>A (p.Leu1029Ile)
c.3265T>A (p.Leu1089Ile)
c.2932T>A (p.Leu978Ile)
 dbSNP
7g.117611616T>CCA4451406CFTRc.3175T>C (p.Leu1059=)
c.*2889T>C (n.*2889T>C)
c.2992T>C (p.Leu998=)
c.*1475T>C (n.*1475T>C)
c.*2999T>C (n.*2999T>C)
c.2749T>C (p.Leu917=)
c.766T>C (p.Leu256=)
c.825T>C
c.1957T>C (p.Leu653=)
c.3085T>C (p.Leu1029=)
c.3265T>C (p.Leu1089=)
c.2932T>C (p.Leu978=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117611616T>GCA368991941CFTRc.3175T>G (p.Leu1059Val)
c.*2889T>G (n.*2889T>G)
c.2992T>G (p.Leu998Val)
c.*1475T>G (n.*1475T>G)
c.*2999T>G (n.*2999T>G)
c.2749T>G (p.Leu917Val)
c.766T>G (p.Leu256Val)
c.825T>G
c.1957T>G (p.Leu653Val)
c.3085T>G (p.Leu1029Val)
c.3265T>G (p.Leu1089Val)
c.2932T>G (p.Leu978Val)
7g.117611616T=CA1737386770CFTRc.3175T= (p.Leu1059=)
c.*2889T= (n.*2889T=)
c.2992T= (p.Leu998=)
c.*1475T= (n.*1475T=)
c.*2999T= (n.*2999T=)
c.2749T= (p.Leu917=)
c.766T= (p.Leu256=)
c.825T=
c.1957T= (p.Leu653=)
c.3085T= (p.Leu1029=)
c.3265T= (p.Leu1089=)
c.2932T= (p.Leu978=)
7g.117611617T>ACA368991945CFTRc.3176T>A (p.Leu1059Ter)
c.*2890T>A (n.*2890T>A)
c.2993T>A (p.Leu998Ter)
c.*1476T>A (n.*1476T>A)
c.*3000T>A (n.*3000T>A)
c.2750T>A (p.Leu917Ter)
c.767T>A (p.Leu256Ter)
c.826T>A
c.1958T>A (p.Leu653Ter)
c.3086T>A (p.Leu1029Ter)
c.1T>A
c.3266T>A (p.Leu1089Ter)
c.2933T>A (p.Leu978Ter)
7g.117611617T>CCA368991946CFTRc.3176T>C (p.Leu1059Ser)
c.*2890T>C (n.*2890T>C)
c.2993T>C (p.Leu998Ser)
c.*1476T>C (n.*1476T>C)
c.*3000T>C (n.*3000T>C)
c.2750T>C (p.Leu917Ser)
c.767T>C (p.Leu256Ser)
c.826T>C
c.1958T>C (p.Leu653Ser)
c.3086T>C (p.Leu1029Ser)
c.1T>C
c.3266T>C (p.Leu1089Ser)
c.2933T>C (p.Leu978Ser)
7g.117611617T>GCA327074CFTRc.3176T>G (p.Leu1059Ter)
c.*2890T>G (n.*2890T>G)
c.2993T>G (p.Leu998Ter)
c.*1476T>G (n.*1476T>G)
c.*3000T>G (n.*3000T>G)
c.2750T>G (p.Leu917Ter)
c.767T>G (p.Leu256Ter)
c.826T>G
c.1958T>G (p.Leu653Ter)
c.3086T>G (p.Leu1029Ter)
c.1T>G
c.3266T>G (p.Leu1089Ter)
c.2933T>G (p.Leu978Ter)
 ClinVar dbSNP
7g.117611617T=CA1737386774CFTRc.3176T= (p.Leu1059=)
c.*2890T= (n.*2890T=)
c.2993T= (p.Leu998=)
c.*1476T= (n.*1476T=)
c.*3000T= (n.*3000T=)
c.2750T= (p.Leu917=)
c.767T= (p.Leu256=)
c.826T=
c.1958T= (p.Leu653=)
c.3086T= (p.Leu1029=)
c.1T=
c.3266T= (p.Leu1089=)
c.2933T= (p.Leu978=)
7g.117611618A=CA1737386789CFTRc.3177A= (p.Leu1059=)
c.*2891A= (n.*2891A=)
c.2994A= (p.Leu998=)
c.*1477A= (n.*1477A=)
c.*3001A= (n.*3001A=)
c.2751A= (p.Leu917=)
c.768A= (p.Leu256=)
c.827A=
c.1959A= (p.Leu653=)
c.3087A= (p.Leu1029=)
c.2A=
c.3267A= (p.Leu1089=)
c.2934A= (p.Leu978=)
7g.117611618A>CCA368991949CFTRc.3177A>C (p.Leu1059Phe)
c.*2891A>C (n.*2891A>C)
c.2994A>C (p.Leu998Phe)
c.*1477A>C (n.*1477A>C)
c.*3001A>C (n.*3001A>C)
c.2751A>C (p.Leu917Phe)
c.768A>C (p.Leu256Phe)
c.827A>C
c.1959A>C (p.Leu653Phe)
c.3087A>C (p.Leu1029Phe)
c.2A>C
c.3267A>C (p.Leu1089Phe)
c.2934A>C (p.Leu978Phe)
7g.117611618A>GCA327076CFTRc.3177A>G (p.Leu1059=)
c.*2891A>G (n.*2891A>G)
c.2994A>G (p.Leu998=)
c.*1477A>G (n.*1477A>G)
c.*3001A>G (n.*3001A>G)
c.2751A>G (p.Leu917=)
c.768A>G (p.Leu256=)
c.827A>G
c.1959A>G (p.Leu653=)
c.3087A>G (p.Leu1029=)
c.2A>G
c.3267A>G (p.Leu1089=)
c.2934A>G (p.Leu978=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611618A>TCA368991952CFTRc.3177A>T (p.Leu1059Phe)
c.*2891A>T (n.*2891A>T)
c.2994A>T (p.Leu998Phe)
c.*1477A>T (n.*1477A>T)
c.*3001A>T (n.*3001A>T)
c.2751A>T (p.Leu917Phe)
c.768A>T (p.Leu256Phe)
c.827A>T
c.1959A>T (p.Leu653Phe)
c.3087A>T (p.Leu1029Phe)
c.2A>T
c.3267A>T (p.Leu1089Phe)
c.2934A>T (p.Leu978Phe)
7g.117611621delCA2580076368CFTRc.3180del (p.Gly1061AspfsTer22)
c.*2894del (n.*2894del)
c.2997del (p.Gly1000AspfsTer22)
c.*1480del (n.*1480del)
c.*3004del (n.*3004del)
c.2754del (p.Gly919AspfsTer22)
c.771del (p.Gly258AspfsTer22)
c.830del
c.1962del (p.Gly655AspfsTer22)
c.3090del (p.Gly1031AspfsTer22)
c.5del
c.3270del (p.Gly1091AspfsTer22)
c.2937del (p.Gly980AspfsTer22)
 ClinVar
7g.117611619A=CA1737386800CFTRc.3178A= (p.Lys1060=)
c.*2892A= (n.*2892A=)
c.2995A= (p.Lys999=)
c.*1478A= (n.*1478A=)
c.*3002A= (n.*3002A=)
c.2752A= (p.Lys918=)
c.769A= (p.Lys257=)
c.828A=
c.1960A= (p.Lys654=)
c.3088A= (p.Lys1030=)
c.3A=
c.3268A= (p.Lys1090=)
c.2935A= (p.Lys979=)
7g.117611619A>CCA368991954CFTRc.3178A>C (p.Lys1060Gln)
c.*2892A>C (n.*2892A>C)
c.2995A>C (p.Lys999Gln)
c.*1478A>C (n.*1478A>C)
c.*3002A>C (n.*3002A>C)
c.2752A>C (p.Lys918Gln)
c.769A>C (p.Lys257Gln)
c.828A>C
c.1960A>C (p.Lys654Gln)
c.3088A>C (p.Lys1030Gln)
c.3A>C
c.3268A>C (p.Lys1090Gln)
c.2935A>C (p.Lys979Gln)
7g.117611619A>GCA368991956CFTRc.3178A>G (p.Lys1060Glu)
c.*2892A>G (n.*2892A>G)
c.2995A>G (p.Lys999Glu)
c.*1478A>G (n.*1478A>G)
c.*3002A>G (n.*3002A>G)
c.2752A>G (p.Lys918Glu)
c.769A>G (p.Lys257Glu)
c.828A>G
c.1960A>G (p.Lys654Glu)
c.3088A>G (p.Lys1030Glu)
c.3A>G
c.3268A>G (p.Lys1090Glu)
c.2935A>G (p.Lys979Glu)
 ClinVar dbSNP
7g.117611619A>TCA368991958CFTRc.3178A>T (p.Lys1060Ter)
c.*2892A>T (n.*2892A>T)
c.2995A>T (p.Lys999Ter)
c.*1478A>T (n.*1478A>T)
c.*3002A>T (n.*3002A>T)
c.2752A>T (p.Lys918Ter)
c.769A>T (p.Lys257Ter)
c.828A>T
c.1960A>T (p.Lys654Ter)
c.3088A>T (p.Lys1030Ter)
c.3A>T
c.3268A>T (p.Lys1090Ter)
c.2935A>T (p.Lys979Ter)
7g.117611620A=CA1737386805CFTRc.3179A= (p.Lys1060=)
c.*2893A= (n.*2893A=)
c.2996A= (p.Lys999=)
c.*1479A= (n.*1479A=)
c.*3003A= (n.*3003A=)
c.2753A= (p.Lys918=)
c.770A= (p.Lys257=)
c.829A=
c.1961A= (p.Lys654=)
c.3089A= (p.Lys1030=)
c.4A=
c.3269A= (p.Lys1090=)
c.2936A= (p.Lys979=)
7g.117611620A>CCA327078CFTRc.3179A>C (p.Lys1060Thr)
c.*2893A>C (n.*2893A>C)
c.2996A>C (p.Lys999Thr)
c.*1479A>C (n.*1479A>C)
c.*3003A>C (n.*3003A>C)
c.2753A>C (p.Lys918Thr)
c.770A>C (p.Lys257Thr)
c.829A>C
c.1961A>C (p.Lys654Thr)
c.3089A>C (p.Lys1030Thr)
c.4A>C
c.3269A>C (p.Lys1090Thr)
c.2936A>C (p.Lys979Thr)
 ClinVar dbSNP
7g.117611620A>GCA368991962CFTRc.3179A>G (p.Lys1060Arg)
c.*2893A>G (n.*2893A>G)
c.2996A>G (p.Lys999Arg)
c.*1479A>G (n.*1479A>G)
c.*3003A>G (n.*3003A>G)
c.2753A>G (p.Lys918Arg)
c.770A>G (p.Lys257Arg)
c.829A>G
c.1961A>G (p.Lys654Arg)
c.3089A>G (p.Lys1030Arg)
c.4A>G
c.3269A>G (p.Lys1090Arg)
c.2936A>G (p.Lys979Arg)
7g.117611620A>TCA368991964CFTRc.3179A>T (p.Lys1060Ile)
c.*2893A>T (n.*2893A>T)
c.2996A>T (p.Lys999Ile)
c.*1479A>T (n.*1479A>T)
c.*3003A>T (n.*3003A>T)
c.2753A>T (p.Lys918Ile)
c.770A>T (p.Lys257Ile)
c.829A>T
c.1961A>T (p.Lys654Ile)
c.3089A>T (p.Lys1030Ile)
c.4A>T
c.3269A>T (p.Lys1090Ile)
c.2936A>T (p.Lys979Ile)
7g.117611621A=CA1737386813CFTRc.3180A= (p.Lys1060=)
c.*2894A= (n.*2894A=)
c.2997A= (p.Lys999=)
c.*1480A= (n.*1480A=)
c.*3004A= (n.*3004A=)
c.2754A= (p.Lys918=)
c.771A= (p.Lys257=)
c.830A=
c.1962A= (p.Lys654=)
c.3090A= (p.Lys1030=)
c.5A=
c.3270A= (p.Lys1090=)
c.2937A= (p.Lys979=)
7g.117611621A>CCA368991966CFTRc.3180A>C (p.Lys1060Asn)
c.*2894A>C (n.*2894A>C)
c.2997A>C (p.Lys999Asn)
c.*1480A>C (n.*1480A>C)
c.*3004A>C (n.*3004A>C)
c.2754A>C (p.Lys918Asn)
c.771A>C (p.Lys257Asn)
c.830A>C
c.1962A>C (p.Lys654Asn)
c.3090A>C (p.Lys1030Asn)
c.5A>C
c.3270A>C (p.Lys1090Asn)
c.2937A>C (p.Lys979Asn)
 dbSNP
7g.117611621A>GCA10576717CFTRc.3180A>G (p.Lys1060=)
c.*2894A>G (n.*2894A>G)
c.2997A>G (p.Lys999=)
c.*1480A>G (n.*1480A>G)
c.*3004A>G (n.*3004A>G)
c.2754A>G (p.Lys918=)
c.771A>G (p.Lys257=)
c.830A>G
c.1962A>G (p.Lys654=)
c.3090A>G (p.Lys1030=)
c.5A>G
c.3270A>G (p.Lys1090=)
c.2937A>G (p.Lys979=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117611621A>TCA368991968CFTRc.3180A>T (p.Lys1060Asn)
c.*2894A>T (n.*2894A>T)
c.2997A>T (p.Lys999Asn)
c.*1480A>T (n.*1480A>T)
c.*3004A>T (n.*3004A>T)
c.2754A>T (p.Lys918Asn)
c.771A>T (p.Lys257Asn)
c.830A>T
c.1962A>T (p.Lys654Asn)
c.3090A>T (p.Lys1030Asn)
c.5A>T
c.3270A>T (p.Lys1090Asn)
c.2937A>T (p.Lys979Asn)
7g.117611622G>ACA368991973CFTRc.3181G>A (p.Gly1061Arg)
c.*2895G>A (n.*2895G>A)
c.2998G>A (p.Gly1000Arg)
c.*1481G>A (n.*1481G>A)
c.*3005G>A (n.*3005G>A)
c.2755G>A (p.Gly919Arg)
c.772G>A (p.Gly258Arg)
c.831G>A
c.1963G>A (p.Gly655Arg)
c.3091G>A (p.Gly1031Arg)
c.6G>A
c.3271G>A (p.Gly1091Arg)
c.2938G>A (p.Gly980Arg)
 dbSNP gnomAD v3 gnomAD v4
7g.117611622G>CCA221023CFTRc.3181G>C (p.Gly1061Arg)
c.*2895G>C (n.*2895G>C)
c.2998G>C (p.Gly1000Arg)
c.*1481G>C (n.*1481G>C)
c.*3005G>C (n.*3005G>C)
c.2755G>C (p.Gly919Arg)
c.772G>C (p.Gly258Arg)
c.831G>C
c.1963G>C (p.Gly655Arg)
c.3091G>C (p.Gly1031Arg)
c.6G>C
c.3271G>C (p.Gly1091Arg)
c.2938G>C (p.Gly980Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117611622G=CA1737386826CFTRc.3181G= (p.Gly1061=)
c.*2895G= (n.*2895G=)
c.2998G= (p.Gly1000=)
c.*1481G= (n.*1481G=)
c.*3005G= (n.*3005G=)
c.2755G= (p.Gly919=)
c.772G= (p.Gly258=)
c.831G=
c.1963G= (p.Gly655=)
c.3091G= (p.Gly1031=)
c.6G=
c.3271G= (p.Gly1091=)
c.2938G= (p.Gly980=)
7g.117611622G>TCA368991977CFTRc.3181G>T (p.Gly1061Ter)
c.*2895G>T (n.*2895G>T)
c.2998G>T (p.Gly1000Ter)
c.*1481G>T (n.*1481G>T)
c.*3005G>T (n.*3005G>T)
c.2755G>T (p.Gly919Ter)
c.772G>T (p.Gly258Ter)
c.831G>T
c.1963G>T (p.Gly655Ter)
c.3091G>T (p.Gly1031Ter)
c.6G>T
c.3271G>T (p.Gly1091Ter)
c.2938G>T (p.Gly980Ter)
7g.117611626_117611632delCA2573141588CFTRc.3185_3191del (p.Leu1062HisfsTer19)
c.*2899_*2905del (n.*2899_*2905del)
c.3002_3008del (p.Leu1001HisfsTer19)
c.*1485_*1491del (n.*1485_*1491del)
c.*3009_*3015del (n.*3009_*3015del)
c.2759_2765del (p.Leu920HisfsTer19)
c.776_782del (p.Leu259HisfsTer19)
c.835_841del
c.1967_1973del (p.Leu656HisfsTer19)
c.3095_3101del (p.Leu1032HisfsTer19)
c.10_16del
c.3275_3281del (p.Leu1092HisfsTer19)
c.2942_2948del (p.Leu981HisfsTer19)
 ClinVar dbSNP
7g.117611623G>ACA368991980CFTRc.3182G>A (p.Gly1061Glu)
c.*2896G>A (n.*2896G>A)
c.2999G>A (p.Gly1000Glu)
c.*1482G>A (n.*1482G>A)
c.*3006G>A (n.*3006G>A)
c.2756G>A (p.Gly919Glu)
c.773G>A (p.Gly258Glu)
c.832G>A
c.1964G>A (p.Gly655Glu)
c.3092G>A (p.Gly1031Glu)
c.7G>A
c.3272G>A (p.Gly1091Glu)
c.2939G>A (p.Gly980Glu)
 COSMIC
7g.117611623G>CCA368991983CFTRc.3182G>C (p.Gly1061Ala)
c.*2896G>C (n.*2896G>C)
c.2999G>C (p.Gly1000Ala)
c.*1482G>C (n.*1482G>C)
c.*3006G>C (n.*3006G>C)
c.2756G>C (p.Gly919Ala)
c.773G>C (p.Gly258Ala)
c.832G>C
c.1964G>C (p.Gly655Ala)
c.3092G>C (p.Gly1031Ala)
c.7G>C
c.3272G>C (p.Gly1091Ala)
c.2939G>C (p.Gly980Ala)
7g.117611623G=CA1737386834CFTRc.3182G= (p.Gly1061=)
c.*2896G= (n.*2896G=)
c.2999G= (p.Gly1000=)
c.*1482G= (n.*1482G=)
c.*3006G= (n.*3006G=)
c.2756G= (p.Gly919=)
c.773G= (p.Gly258=)
c.832G=
c.1964G= (p.Gly655=)
c.3092G= (p.Gly1031=)
c.7G=
c.3272G= (p.Gly1091=)
c.2939G= (p.Gly980=)
7g.117611623G>TCA368991985CFTRc.3182G>T (p.Gly1061Val)
c.*2896G>T (n.*2896G>T)
c.2999G>T (p.Gly1000Val)
c.*1482G>T (n.*1482G>T)
c.*3006G>T (n.*3006G>T)
c.2756G>T (p.Gly919Val)
c.773G>T (p.Gly258Val)
c.832G>T
c.1964G>T (p.Gly655Val)
c.3092G>T (p.Gly1031Val)
c.7G>T
c.3272G>T (p.Gly1091Val)
c.2939G>T (p.Gly980Val)
 dbSNP
7g.117611624A=CA1737386841CFTRc.3183A= (p.Gly1061=)
c.*2897A= (n.*2897A=)
c.3000A= (p.Gly1000=)
c.*1483A= (n.*1483A=)
c.*3007A= (n.*3007A=)
c.2757A= (p.Gly919=)
c.774A= (p.Gly258=)
c.833A=
c.1965A= (p.Gly655=)
c.3093A= (p.Gly1031=)
c.8A=
c.3273A= (p.Gly1091=)
c.2940A= (p.Gly980=)
7g.117611624A>CCA457229994CFTRc.3183A>C (p.Gly1061=)
c.*2897A>C (n.*2897A>C)
c.3000A>C (p.Gly1000=)
c.*1483A>C (n.*1483A>C)
c.*3007A>C (n.*3007A>C)
c.2757A>C (p.Gly919=)
c.774A>C (p.Gly258=)
c.833A>C
c.1965A>C (p.Gly655=)
c.3093A>C (p.Gly1031=)
c.8A>C
c.3273A>C (p.Gly1091=)
c.2940A>C (p.Gly980=)
7g.117611624A>GCA457229995CFTRc.3183A>G (p.Gly1061=)
c.*2897A>G (n.*2897A>G)
c.3000A>G (p.Gly1000=)
c.*1483A>G (n.*1483A>G)
c.*3007A>G (n.*3007A>G)
c.2757A>G (p.Gly919=)
c.774A>G (p.Gly258=)
c.833A>G
c.1965A>G (p.Gly655=)
c.3093A>G (p.Gly1031=)
c.8A>G
c.3273A>G (p.Gly1091=)
c.2940A>G (p.Gly980=)
 ClinVar dbSNP
7g.117611624A>TCA457229996CFTRc.3183A>T (p.Gly1061=)
c.*2897A>T (n.*2897A>T)
c.3000A>T (p.Gly1000=)
c.*1483A>T (n.*1483A>T)
c.*3007A>T (n.*3007A>T)
c.2757A>T (p.Gly919=)
c.774A>T (p.Gly258=)
c.833A>T
c.1965A>T (p.Gly655=)
c.3093A>T (p.Gly1031=)
c.8A>T
c.3273A>T (p.Gly1091=)
c.2940A>T (p.Gly980=)
7g.117611625C>ACA368991987CFTRc.3184C>A (p.Leu1062Ile)
c.*2898C>A (n.*2898C>A)
c.3001C>A (p.Leu1001Ile)
c.*1484C>A (n.*1484C>A)
c.*3008C>A (n.*3008C>A)
c.2758C>A (p.Leu920Ile)
c.775C>A (p.Leu259Ile)
c.834C>A
c.1966C>A (p.Leu656Ile)
c.3094C>A (p.Leu1032Ile)
c.9C>A
c.3274C>A (p.Leu1092Ile)
c.2941C>A (p.Leu981Ile)
7g.117611625C>GCA368991989CFTRc.3184C>G (p.Leu1062Val)
c.*2898C>G (n.*2898C>G)
c.3001C>G (p.Leu1001Val)
c.*1484C>G (n.*1484C>G)
c.*3008C>G (n.*3008C>G)
c.2758C>G (p.Leu920Val)
c.775C>G (p.Leu259Val)
c.834C>G
c.1966C>G (p.Leu656Val)
c.3094C>G (p.Leu1032Val)
c.9C>G
c.3274C>G (p.Leu1092Val)
c.2941C>G (p.Leu981Val)
7g.117611625C>TCA457229997CFTRc.3184C>T (p.Leu1062=)
c.*2898C>T (n.*2898C>T)
c.3001C>T (p.Leu1001=)
c.*1484C>T (n.*1484C>T)
c.*3008C>T (n.*3008C>T)
c.2758C>T (p.Leu920=)
c.775C>T (p.Leu259=)
c.834C>T
c.1966C>T (p.Leu656=)
c.3094C>T (p.Leu1032=)
c.9C>T
c.3274C>T (p.Leu1092=)
c.2941C>T (p.Leu981=)
 ClinVar
7g.117611625_117611629dupCA325557CFTRc.3184_3188dup (p.Trp1063CysfsTer22)
c.*2898_*2902dup (n.*2898_*2902dup)
c.3001_3005dup (p.Trp1002CysfsTer22)
c.*1484_*1488dup (n.*1484_*1488dup)
c.*3008_*3012dup (n.*3008_*3012dup)
c.2758_2762dup (p.Trp921CysfsTer22)
c.775_779dup (p.Trp260CysfsTer22)
c.834_838dup
c.1966_1970dup (p.Trp657CysfsTer22)
c.3094_3098dup (p.Trp1033CysfsTer22)
c.9_13dup
c.3274_3278dup (p.Trp1093CysfsTer22)
c.2941_2945dup (p.Trp982CysfsTer22)
 ClinVar dbSNP
7g.117611626T>ACA368991995CFTRc.3185T>A (p.Leu1062Gln)
c.*2899T>A (n.*2899T>A)
c.3002T>A (p.Leu1001Gln)
c.*1485T>A (n.*1485T>A)
c.*3009T>A (n.*3009T>A)
c.2759T>A (p.Leu920Gln)
c.776T>A (p.Leu259Gln)
c.835T>A
c.1967T>A (p.Leu656Gln)
c.3095T>A (p.Leu1032Gln)
c.10T>A
c.3275T>A (p.Leu1092Gln)
c.2942T>A (p.Leu981Gln)
7g.117611626T>CCA368991997CFTRc.3185T>C (p.Leu1062Pro)
c.*2899T>C (n.*2899T>C)
c.3002T>C (p.Leu1001Pro)
c.*1485T>C (n.*1485T>C)
c.*3009T>C (n.*3009T>C)
c.2759T>C (p.Leu920Pro)
c.776T>C (p.Leu259Pro)
c.835T>C
c.1967T>C (p.Leu656Pro)
c.3095T>C (p.Leu1032Pro)
c.10T>C
c.3275T>C (p.Leu1092Pro)
c.2942T>C (p.Leu981Pro)
 ClinVar dbSNP gnomAD v4
7g.117611626T>GCA368991993CFTRc.3185T>G (p.Leu1062Arg)
c.*2899T>G (n.*2899T>G)
c.3002T>G (p.Leu1001Arg)
c.*1485T>G (n.*1485T>G)
c.*3009T>G (n.*3009T>G)
c.2759T>G (p.Leu920Arg)
c.776T>G (p.Leu259Arg)
c.835T>G
c.1967T>G (p.Leu656Arg)
c.3095T>G (p.Leu1032Arg)
c.10T>G
c.3275T>G (p.Leu1092Arg)
c.2942T>G (p.Leu981Arg)
7g.117611627A=CA1737386855CFTRc.3186A= (p.Leu1062=)
c.*2900A= (n.*2900A=)
c.3003A= (p.Leu1001=)
c.*1486A= (n.*1486A=)
c.*3010A= (n.*3010A=)
c.2760A= (p.Leu920=)
c.777A= (p.Leu259=)
c.836A=
c.1968A= (p.Leu656=)
c.3096A= (p.Leu1032=)
c.11A=
c.3276A= (p.Leu1092=)
c.2943A= (p.Leu981=)
7g.117611627A>CCA457229998CFTRc.3186A>C (p.Leu1062=)
c.*2900A>C (n.*2900A>C)
c.3003A>C (p.Leu1001=)
c.*1486A>C (n.*1486A>C)
c.*3010A>C (n.*3010A>C)
c.2760A>C (p.Leu920=)
c.777A>C (p.Leu259=)
c.836A>C
c.1968A>C (p.Leu656=)
c.3096A>C (p.Leu1032=)
c.11A>C
c.3276A>C (p.Leu1092=)
c.2943A>C (p.Leu981=)
7g.117611627A>GCA457229999CFTRc.3186A>G (p.Leu1062=)
c.*2900A>G (n.*2900A>G)
c.3003A>G (p.Leu1001=)
c.*1486A>G (n.*1486A>G)
c.*3010A>G (n.*3010A>G)
c.2760A>G (p.Leu920=)
c.777A>G (p.Leu259=)
c.836A>G
c.1968A>G (p.Leu656=)
c.3096A>G (p.Leu1032=)
c.11A>G
c.3276A>G (p.Leu1092=)
c.2943A>G (p.Leu981=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117611627A>TCA457230000CFTRc.3186A>T (p.Leu1062=)
c.*2900A>T (n.*2900A>T)
c.3003A>T (p.Leu1001=)
c.*1486A>T (n.*1486A>T)
c.*3010A>T (n.*3010A>T)
c.2760A>T (p.Leu920=)
c.777A>T (p.Leu259=)
c.836A>T
c.1968A>T (p.Leu656=)
c.3096A>T (p.Leu1032=)
c.11A>T
c.3276A>T (p.Leu1092=)
c.2943A>T (p.Leu981=)
 ClinVar
7g.117611628T>ACA368991999CFTRc.3187T>A (p.Trp1063Arg)
c.*2901T>A (n.*2901T>A)
c.3004T>A (p.Trp1002Arg)
c.*1487T>A (n.*1487T>A)
c.*3011T>A (n.*3011T>A)
c.2761T>A (p.Trp921Arg)
c.778T>A (p.Trp260Arg)
c.837T>A
c.1969T>A (p.Trp657Arg)
c.3097T>A (p.Trp1033Arg)
c.12T>A
c.3277T>A (p.Trp1093Arg)
c.2944T>A (p.Trp982Arg)
7g.117611628T>CCA368992001CFTRc.3187T>C (p.Trp1063Arg)
c.*2901T>C (n.*2901T>C)
c.3004T>C (p.Trp1002Arg)
c.*1487T>C (n.*1487T>C)
c.*3011T>C (n.*3011T>C)
c.2761T>C (p.Trp921Arg)
c.778T>C (p.Trp260Arg)
c.837T>C
c.1969T>C (p.Trp657Arg)
c.3097T>C (p.Trp1033Arg)
c.12T>C
c.3277T>C (p.Trp1093Arg)
c.2944T>C (p.Trp982Arg)
 gnomAD v4
7g.117611628T>GCA368992004CFTRc.3187T>G (p.Trp1063Gly)
c.*2901T>G (n.*2901T>G)
c.3004T>G (p.Trp1002Gly)
c.*1487T>G (n.*1487T>G)
c.*3011T>G (n.*3011T>G)
c.2761T>G (p.Trp921Gly)
c.778T>G (p.Trp260Gly)
c.837T>G
c.1969T>G (p.Trp657Gly)
c.3097T>G (p.Trp1033Gly)
c.12T>G
c.3277T>G (p.Trp1093Gly)
c.2944T>G (p.Trp982Gly)
7g.117611629G>ACA368992007CFTRc.3188G>A (p.Trp1063Ter)
c.*2902G>A (n.*2902G>A)
c.3005G>A (p.Trp1002Ter)
c.*1488G>A (n.*1488G>A)
c.*3012G>A (n.*3012G>A)
c.2762G>A (p.Trp921Ter)
c.779G>A (p.Trp260Ter)
c.838G>A
c.1970G>A (p.Trp657Ter)
c.3098G>A (p.Trp1033Ter)
c.13G>A
c.3278G>A (p.Trp1093Ter)
c.2945G>A (p.Trp982Ter)
 ClinVar dbSNP
7g.117611629G>CCA368992009CFTRc.3188G>C (p.Trp1063Ser)
c.*2902G>C (n.*2902G>C)
c.3005G>C (p.Trp1002Ser)
c.*1488G>C (n.*1488G>C)
c.*3012G>C (n.*3012G>C)
c.2762G>C (p.Trp921Ser)
c.779G>C (p.Trp260Ser)
c.838G>C
c.1970G>C (p.Trp657Ser)
c.3098G>C (p.Trp1033Ser)
c.13G>C
c.3278G>C (p.Trp1093Ser)
c.2945G>C (p.Trp982Ser)
7g.117611629G=CA1737386867CFTRc.3188G= (p.Trp1063=)
c.*2902G= (n.*2902G=)
c.3005G= (p.Trp1002=)
c.*1488G= (n.*1488G=)
c.*3012G= (n.*3012G=)
c.2762G= (p.Trp921=)
c.779G= (p.Trp260=)
c.838G=
c.1970G= (p.Trp657=)
c.3098G= (p.Trp1033=)
c.13G=
c.3278G= (p.Trp1093=)
c.2945G= (p.Trp982=)
7g.117611629G>TCA368992011CFTRc.3188G>T (p.Trp1063Leu)
c.*2902G>T (n.*2902G>T)
c.3005G>T (p.Trp1002Leu)
c.*1488G>T (n.*1488G>T)
c.*3012G>T (n.*3012G>T)
c.2762G>T (p.Trp921Leu)
c.779G>T (p.Trp260Leu)
c.838G>T
c.1970G>T (p.Trp657Leu)
c.3098G>T (p.Trp1033Leu)
c.13G>T
c.3278G>T (p.Trp1093Leu)
c.2945G>T (p.Trp982Leu)
7g.117611630delCA2695208433CFTRc.3189del (p.Trp1063Ter)
c.*2903del (n.*2903del)
c.3006del (p.Trp1002Ter)
c.*1489del (n.*1489del)
c.*3013del (n.*3013del)
c.2763del (p.Trp921Ter)
c.780del (p.Trp260Ter)
c.839del
c.1971del (p.Trp657Ter)
c.3099del (p.Trp1033Ter)
c.14del
c.3279del (p.Trp1093Ter)
c.2946del (p.Trp982Ter)
7g.117611630G>ACA327080CFTRc.3189G>A (p.Trp1063Ter)
c.*2903G>A (n.*2903G>A)
c.3006G>A (p.Trp1002Ter)
c.*1489G>A (n.*1489G>A)
c.*3013G>A (n.*3013G>A)
c.2763G>A (p.Trp921Ter)
c.780G>A (p.Trp260Ter)
c.839G>A
c.1971G>A (p.Trp657Ter)
c.3099G>A (p.Trp1033Ter)
c.14G>A
c.3279G>A (p.Trp1093Ter)
c.2946G>A (p.Trp982Ter)
 ClinVar dbSNP
7g.117611630G>CCA368992012CFTRc.3189G>C (p.Trp1063Cys)
c.*2903G>C (n.*2903G>C)
c.3006G>C (p.Trp1002Cys)
c.*1489G>C (n.*1489G>C)
c.*3013G>C (n.*3013G>C)
c.2763G>C (p.Trp921Cys)
c.780G>C (p.Trp260Cys)
c.839G>C
c.1971G>C (p.Trp657Cys)
c.3099G>C (p.Trp1033Cys)
c.14G>C
c.3279G>C (p.Trp1093Cys)
c.2946G>C (p.Trp982Cys)
7g.117611630G=CA1737386877CFTRc.3189G= (p.Trp1063=)
c.*2903G= (n.*2903G=)
c.3006G= (p.Trp1002=)
c.*1489G= (n.*1489G=)
c.*3013G= (n.*3013G=)
c.2763G= (p.Trp921=)
c.780G= (p.Trp260=)
c.839G=
c.1971G= (p.Trp657=)
c.3099G= (p.Trp1033=)
c.14G=
c.3279G= (p.Trp1093=)
c.2946G= (p.Trp982=)
7g.117611630G>TCA368992015CFTRc.3189G>T (p.Trp1063Cys)
c.*2903G>T (n.*2903G>T)
c.3006G>T (p.Trp1002Cys)
c.*1489G>T (n.*1489G>T)
c.*3013G>T (n.*3013G>T)
c.2763G>T (p.Trp921Cys)
c.780G>T (p.Trp260Cys)
c.839G>T
c.1971G>T (p.Trp657Cys)
c.3099G>T (p.Trp1033Cys)
c.14G>T
c.3279G>T (p.Trp1093Cys)
c.2946G>T (p.Trp982Cys)
 gnomAD v4
7g.117611631A=CA1737386881CFTRc.3190A= (p.Thr1064=)
c.*2904A= (n.*2904A=)
c.3007A= (p.Thr1003=)
c.*1490A= (n.*1490A=)
c.*3014A= (n.*3014A=)
c.2764A= (p.Thr922=)
c.781A= (p.Thr261=)
c.840A=
c.1972A= (p.Thr658=)
c.3100A= (p.Thr1034=)
c.15A=
c.3280A= (p.Thr1094=)
c.2947A= (p.Thr983=)
7g.117611631A>CCA368992017CFTRc.3190A>C (p.Thr1064Pro)
c.*2904A>C (n.*2904A>C)
c.3007A>C (p.Thr1003Pro)
c.*1490A>C (n.*1490A>C)
c.*3014A>C (n.*3014A>C)
c.2764A>C (p.Thr922Pro)
c.781A>C (p.Thr261Pro)
c.840A>C
c.1972A>C (p.Thr658Pro)
c.3100A>C (p.Thr1034Pro)
c.15A>C
c.3280A>C (p.Thr1094Pro)
c.2947A>C (p.Thr983Pro)
7g.117611631A>GCA368992019CFTRc.3190A>G (p.Thr1064Ala)
c.*2904A>G (n.*2904A>G)
c.3007A>G (p.Thr1003Ala)
c.*1490A>G (n.*1490A>G)
c.*3014A>G (n.*3014A>G)
c.2764A>G (p.Thr922Ala)
c.781A>G (p.Thr261Ala)
c.840A>G
c.1972A>G (p.Thr658Ala)
c.3100A>G (p.Thr1034Ala)
c.15A>G
c.3280A>G (p.Thr1094Ala)
c.2947A>G (p.Thr983Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117611631A>TCA368992021CFTRc.3190A>T (p.Thr1064Ser)
c.*2904A>T (n.*2904A>T)
c.3007A>T (p.Thr1003Ser)
c.*1490A>T (n.*1490A>T)
c.*3014A>T (n.*3014A>T)
c.2764A>T (p.Thr922Ser)
c.781A>T (p.Thr261Ser)
c.840A>T
c.1972A>T (p.Thr658Ser)
c.3100A>T (p.Thr1034Ser)
c.15A>T
c.3280A>T (p.Thr1094Ser)
c.2947A>T (p.Thr983Ser)
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.117611632C>ACA368992027CFTRc.3191C>A (p.Thr1064Lys)
c.*2905C>A (n.*2905C>A)
c.3008C>A (p.Thr1003Lys)
c.*1491C>A (n.*1491C>A)
c.*3015C>A (n.*3015C>A)
c.2765C>A (p.Thr922Lys)
c.782C>A (p.Thr261Lys)
c.841C>A
c.1973C>A (p.Thr658Lys)
c.3101C>A (p.Thr1034Lys)
c.16C>A
c.3281C>A (p.Thr1094Lys)
c.2948C>A (p.Thr983Lys)
7g.117611632C=CA1737386885CFTRc.3191C= (p.Thr1064=)
c.*2905C= (n.*2905C=)
c.3008C= (p.Thr1003=)
c.*1491C= (n.*1491C=)
c.*3015C= (n.*3015C=)
c.2765C= (p.Thr922=)
c.782C= (p.Thr261=)
c.841C=
c.1973C= (p.Thr658=)
c.3101C= (p.Thr1034=)
c.16C=
c.3281C= (p.Thr1094=)
c.2948C= (p.Thr983=)
7g.117611632C>GCA368992024CFTRc.3191C>G (p.Thr1064Arg)
c.*2905C>G (n.*2905C>G)
c.3008C>G (p.Thr1003Arg)
c.*1491C>G (n.*1491C>G)
c.*3015C>G (n.*3015C>G)
c.2765C>G (p.Thr922Arg)
c.782C>G (p.Thr261Arg)
c.841C>G
c.1973C>G (p.Thr658Arg)
c.3101C>G (p.Thr1034Arg)
c.16C>G
c.3281C>G (p.Thr1094Arg)
c.2948C>G (p.Thr983Arg)
7g.117611632C>TCA368992026CFTRc.3191C>T (p.Thr1064Ile)
c.*2905C>T (n.*2905C>T)
c.3008C>T (p.Thr1003Ile)
c.*1491C>T (n.*1491C>T)
c.*3015C>T (n.*3015C>T)
c.2765C>T (p.Thr922Ile)
c.782C>T (p.Thr261Ile)
c.841C>T
c.1973C>T (p.Thr658Ile)
c.3101C>T (p.Thr1034Ile)
c.16C>T
c.3281C>T (p.Thr1094Ile)
c.2948C>T (p.Thr983Ile)
7g.117611632_117611633insTTTTAAGCTTAAAAGGCA915945437CFTRc.3191_3192insTTTTAAGCTTAAAAGG (p.Leu1065PhefsTer16)
c.*2905_*2906insTTTTAAGCTTAAAAGG (n.*2905_*2906insTTTTAAGCTTAAAAGG)
c.3008_3009insTTTTAAGCTTAAAAGG (p.Leu1004PhefsTer16)
c.*1491_*1492insTTTTAAGCTTAAAAGG (n.*1491_*1492insTTTTAAGCTTAAAAGG)
c.*3015_*3016insTTTTAAGCTTAAAAGG (n.*3015_*3016insTTTTAAGCTTAAAAGG)
c.2765_2766insTTTTAAGCTTAAAAGG (p.Leu923PhefsTer16)
c.782_783insTTTTAAGCTTAAAAGG (p.Leu262PhefsTer16)
c.841_842insTTTTAAGCTTAAAAGG
c.1973_1974insTTTTAAGCTTAAAAGG (p.Leu659PhefsTer16)
c.3101_3102insTTTTAAGCTTAAAAGG (p.Leu1035PhefsTer16)
c.16_17insTTTTAAGCTTAAAAGG
c.3281_3282insTTTTAAGCTTAAAAGG (p.Leu1095PhefsTer16)
c.2948_2949insTTTTAAGCTTAAAAGG (p.Leu984PhefsTer16)
 ClinVar dbSNP
7g.117611633A=CA1737386889CFTRc.3192A= (p.Thr1064=)
c.*2906A= (n.*2906A=)
c.3009A= (p.Thr1003=)
c.*1492A= (n.*1492A=)
c.*3016A= (n.*3016A=)
c.2766A= (p.Thr922=)
c.783A= (p.Thr261=)
c.842A=
c.1974A= (p.Thr658=)
c.3102A= (p.Thr1034=)
c.17A=
c.3282A= (p.Thr1094=)
c.2949A= (p.Thr983=)
7g.117611633A>CCA457230001CFTRc.3192A>C (p.Thr1064=)
c.*2906A>C (n.*2906A>C)
c.3009A>C (p.Thr1003=)
c.*1492A>C (n.*1492A>C)
c.*3016A>C (n.*3016A>C)
c.2766A>C (p.Thr922=)
c.783A>C (p.Thr261=)
c.842A>C
c.1974A>C (p.Thr658=)
c.3102A>C (p.Thr1034=)
c.17A>C
c.3282A>C (p.Thr1094=)
c.2949A>C (p.Thr983=)
 dbSNP
7g.117611633A>GCA457230002CFTRc.3192A>G (p.Thr1064=)
c.*2906A>G (n.*2906A>G)
c.3009A>G (p.Thr1003=)
c.*1492A>G (n.*1492A>G)
c.*3016A>G (n.*3016A>G)
c.2766A>G (p.Thr922=)
c.783A>G (p.Thr261=)
c.842A>G
c.1974A>G (p.Thr658=)
c.3102A>G (p.Thr1034=)
c.17A>G
c.3282A>G (p.Thr1094=)
c.2949A>G (p.Thr983=)
 dbSNP gnomAD v4
7g.117611633A>TCA457230003CFTRc.3192A>T (p.Thr1064=)
c.*2906A>T (n.*2906A>T)
c.3009A>T (p.Thr1003=)
c.*1492A>T (n.*1492A>T)
c.*3016A>T (n.*3016A>T)
c.2766A>T (p.Thr922=)
c.783A>T (p.Thr261=)
c.842A>T
c.1974A>T (p.Thr658=)
c.3102A>T (p.Thr1034=)
c.17A>T
c.3282A>T (p.Thr1094=)
c.2949A>T (p.Thr983=)
 ClinVar gnomAD v4
7g.117611634C>ACA368992030CFTRc.3193C>A (p.Leu1065Ile)
c.*2907C>A (n.*2907C>A)
c.3010C>A (p.Leu1004Ile)
c.*1493C>A (n.*1493C>A)
c.*3017C>A (n.*3017C>A)
c.2767C>A (p.Leu923Ile)
c.784C>A (p.Leu262Ile)
c.843C>A
c.1975C>A (p.Leu659Ile)
c.3103C>A (p.Leu1035Ile)
c.18C>A
c.3283C>A (p.Leu1095Ile)
c.2950C>A (p.Leu984Ile)
7g.117611634C=CA1737386896CFTRc.3193C= (p.Leu1065=)
c.*2907C= (n.*2907C=)
c.3010C= (p.Leu1004=)
c.*1493C= (n.*1493C=)
c.*3017C= (n.*3017C=)
c.2767C= (p.Leu923=)
c.784C= (p.Leu262=)
c.843C=
c.1975C= (p.Leu659=)
c.3103C= (p.Leu1035=)
c.18C=
c.3283C= (p.Leu1095=)
c.2950C= (p.Leu984=)
7g.117611634C>GCA368992032CFTRc.3193C>G (p.Leu1065Val)
c.*2907C>G (n.*2907C>G)
c.3010C>G (p.Leu1004Val)
c.*1493C>G (n.*1493C>G)
c.*3017C>G (n.*3017C>G)
c.2767C>G (p.Leu923Val)
c.784C>G (p.Leu262Val)
c.843C>G
c.1975C>G (p.Leu659Val)
c.3103C>G (p.Leu1035Val)
c.18C>G
c.3283C>G (p.Leu1095Val)
c.2950C>G (p.Leu984Val)
7g.117611634C>TCA327082CFTRc.3193C>T (p.Leu1065Phe)
c.*2907C>T (n.*2907C>T)
c.3010C>T (p.Leu1004Phe)
c.*1493C>T (n.*1493C>T)
c.*3017C>T (n.*3017C>T)
c.2767C>T (p.Leu923Phe)
c.784C>T (p.Leu262Phe)
c.843C>T
c.1975C>T (p.Leu659Phe)
c.3103C>T (p.Leu1035Phe)
c.18C>T
c.3283C>T (p.Leu1095Phe)
c.2950C>T (p.Leu984Phe)
 dbSNP gnomAD v2 gnomAD v4
7g.117611635T>ACA368992036CFTRc.3194T>A (p.Leu1065His)
c.*2908T>A (n.*2908T>A)
c.3011T>A (p.Leu1004His)
c.*1494T>A (n.*1494T>A)
c.*3018T>A (n.*3018T>A)
c.2768T>A (p.Leu923His)
c.785T>A (p.Leu262His)
c.844T>A
c.1976T>A (p.Leu659His)
c.3104T>A (p.Leu1035His)
c.19T>A
c.3284T>A (p.Leu1095His)
c.2951T>A (p.Leu984His)
7g.117611635T>CCA325596CFTRc.3194T>C (p.Leu1065Pro)
c.*2908T>C (n.*2908T>C)
c.3011T>C (p.Leu1004Pro)
c.*1494T>C (n.*1494T>C)
c.*3018T>C (n.*3018T>C)
c.2768T>C (p.Leu923Pro)
c.785T>C (p.Leu262Pro)
c.844T>C
c.1976T>C (p.Leu659Pro)
c.3104T>C (p.Leu1035Pro)
c.19T>C
c.3284T>C (p.Leu1095Pro)
c.2951T>C (p.Leu984Pro)
 ClinVar dbSNP gnomAD v4
7g.117611635T>GCA327084CFTRc.3194T>G (p.Leu1065Arg)
c.*2908T>G (n.*2908T>G)
c.3011T>G (p.Leu1004Arg)
c.*1494T>G (n.*1494T>G)
c.*3018T>G (n.*3018T>G)
c.2768T>G (p.Leu923Arg)
c.785T>G (p.Leu262Arg)
c.844T>G
c.1976T>G (p.Leu659Arg)
c.3104T>G (p.Leu1035Arg)
c.19T>G
c.3284T>G (p.Leu1095Arg)
c.2951T>G (p.Leu984Arg)
 ClinVar dbSNP
7g.117611635T=CA1737386915CFTRc.3194T= (p.Leu1065=)
c.*2908T= (n.*2908T=)
c.3011T= (p.Leu1004=)
c.*1494T= (n.*1494T=)
c.*3018T= (n.*3018T=)
c.2768T= (p.Leu923=)
c.785T= (p.Leu262=)
c.844T=
c.1976T= (p.Leu659=)
c.3104T= (p.Leu1035=)
c.19T=
c.3284T= (p.Leu1095=)
c.2951T= (p.Leu984=)
7g.117611636T>ACA457230004CFTRc.3195T>A (p.Leu1065=)
c.*2909T>A (n.*2909T>A)
c.3012T>A (p.Leu1004=)
c.*1495T>A (n.*1495T>A)
c.*3019T>A (n.*3019T>A)
c.2769T>A (p.Leu923=)
c.786T>A (p.Leu262=)
c.845T>A
c.1977T>A (p.Leu659=)
c.3105T>A (p.Leu1035=)
c.20T>A
c.3285T>A (p.Leu1095=)
c.2952T>A (p.Leu984=)
7g.117611636T>CCA457230005CFTRc.3195T>C (p.Leu1065=)
c.*2909T>C (n.*2909T>C)
c.3012T>C (p.Leu1004=)
c.*1495T>C (n.*1495T>C)
c.*3019T>C (n.*3019T>C)
c.2769T>C (p.Leu923=)
c.786T>C (p.Leu262=)
c.845T>C
c.1977T>C (p.Leu659=)
c.3105T>C (p.Leu1035=)
c.20T>C
c.3285T>C (p.Leu1095=)
c.2952T>C (p.Leu984=)
7g.117611636T>GCA457230006CFTRc.3195T>G (p.Leu1065=)
c.*2909T>G (n.*2909T>G)
c.3012T>G (p.Leu1004=)
c.*1495T>G (n.*1495T>G)
c.*3019T>G (n.*3019T>G)
c.2769T>G (p.Leu923=)
c.786T>G (p.Leu262=)
c.845T>G
c.1977T>G (p.Leu659=)
c.3105T>G (p.Leu1035=)
c.20T>G
c.3285T>G (p.Leu1095=)
c.2952T>G (p.Leu984=)
 gnomAD v4
7g.117611637C>ACA327085CFTRc.3196C>A (p.Arg1066Ser)
c.*2910C>A (n.*2910C>A)
c.3013C>A (p.Arg1005Ser)
c.*1496C>A (n.*1496C>A)
c.*3020C>A (n.*3020C>A)
c.2770C>A (p.Arg924Ser)
c.787C>A (p.Arg263Ser)
c.846C>A
c.1978C>A (p.Arg660Ser)
c.3106C>A (p.Arg1036Ser)
c.21C>A
c.3286C>A (p.Arg1096Ser)
c.2953C>A (p.Arg985Ser)
 ClinVar dbSNP
7g.117611637C=CA1737386931CFTRc.3196C= (p.Arg1066=)
c.*2910C= (n.*2910C=)
c.3013C= (p.Arg1005=)
c.*1496C= (n.*1496C=)
c.*3020C= (n.*3020C=)
c.2770C= (p.Arg924=)
c.787C= (p.Arg263=)
c.846C=
c.1978C= (p.Arg660=)
c.3106C= (p.Arg1036=)
c.21C=
c.3286C= (p.Arg1096=)
c.2953C= (p.Arg985=)
7g.117611637C>GCA368992041CFTRc.3196C>G (p.Arg1066Gly)
c.*2910C>G (n.*2910C>G)
c.3013C>G (p.Arg1005Gly)
c.*1496C>G (n.*1496C>G)
c.*3020C>G (n.*3020C>G)
c.2770C>G (p.Arg924Gly)
c.787C>G (p.Arg263Gly)
c.846C>G
c.1978C>G (p.Arg660Gly)
c.3106C>G (p.Arg1036Gly)
c.21C>G
c.3286C>G (p.Arg1096Gly)
c.2953C>G (p.Arg985Gly)
7g.117611637C>TCA325558CFTRc.3196C>T (p.Arg1066Cys)
c.*2910C>T (n.*2910C>T)
c.3013C>T (p.Arg1005Cys)
c.*1496C>T (n.*1496C>T)
c.*3020C>T (n.*3020C>T)
c.2770C>T (p.Arg924Cys)
c.787C>T (p.Arg263Cys)
c.846C>T
c.1978C>T (p.Arg660Cys)
c.3106C>T (p.Arg1036Cys)
c.21C>T
c.3286C>T (p.Arg1096Cys)
c.2953C>T (p.Arg985Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117611638G>ACA325555CFTRc.3197G>A (p.Arg1066His)
c.*2911G>A (n.*2911G>A)
c.3014G>A (p.Arg1005His)
c.*1497G>A (n.*1497G>A)
c.*3021G>A (n.*3021G>A)
c.2771G>A (p.Arg924His)
c.788G>A (p.Arg263His)
c.847G>A
c.1979G>A (p.Arg660His)
c.3107G>A (p.Arg1036His)
c.22G>A
c.3287G>A (p.Arg1096His)
c.2954G>A (p.Arg985His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117611638G>CCA368992046CFTRc.3197G>C (p.Arg1066Pro)
c.*2911G>C (n.*2911G>C)
c.3014G>C (p.Arg1005Pro)
c.*1497G>C (n.*1497G>C)
c.*3021G>C (n.*3021G>C)
c.2771G>C (p.Arg924Pro)
c.788G>C (p.Arg263Pro)
c.847G>C
c.1979G>C (p.Arg660Pro)
c.3107G>C (p.Arg1036Pro)
c.22G>C
c.3287G>C (p.Arg1096Pro)
c.2954G>C (p.Arg985Pro)
7g.117611638G=CA1737386939CFTRc.3197G= (p.Arg1066=)
c.*2911G= (n.*2911G=)
c.3014G= (p.Arg1005=)
c.*1497G= (n.*1497G=)
c.*3021G= (n.*3021G=)
c.2771G= (p.Arg924=)
c.788G= (p.Arg263=)
c.847G=
c.1979G= (p.Arg660=)
c.3107G= (p.Arg1036=)
c.22G=
c.3287G= (p.Arg1096=)
c.2954G= (p.Arg985=)
7g.117611638G>TCA327087CFTRc.3197G>T (p.Arg1066Leu)
c.*2911G>T (n.*2911G>T)
c.3014G>T (p.Arg1005Leu)
c.*1497G>T (n.*1497G>T)
c.*3021G>T (n.*3021G>T)
c.2771G>T (p.Arg924Leu)
c.788G>T (p.Arg263Leu)
c.847G>T
c.1979G>T (p.Arg660Leu)
c.3107G>T (p.Arg1036Leu)
c.22G>T
c.3287G>T (p.Arg1096Leu)
c.2954G>T (p.Arg985Leu)
 ClinVar dbSNP
7g.117611639T>ACA457230007CFTRc.3198T>A (p.Arg1066=)
c.*2912T>A (n.*2912T>A)
c.3015T>A (p.Arg1005=)
c.*1498T>A (n.*1498T>A)
c.*3022T>A (n.*3022T>A)
c.2772T>A (p.Arg924=)
c.789T>A (p.Arg263=)
c.848T>A
c.1980T>A (p.Arg660=)
c.3108T>A (p.Arg1036=)
c.23T>A
c.3288T>A (p.Arg1096=)
c.2955T>A (p.Arg985=)
 dbSNP
7g.117611639T>CCA457230008CFTRc.3198T>C (p.Arg1066=)
c.*2912T>C (n.*2912T>C)
c.3015T>C (p.Arg1005=)
c.*1498T>C (n.*1498T>C)
c.*3022T>C (n.*3022T>C)
c.2772T>C (p.Arg924=)
c.789T>C (p.Arg263=)
c.848T>C
c.1980T>C (p.Arg660=)
c.3108T>C (p.Arg1036=)
c.23T>C
c.3288T>C (p.Arg1096=)
c.2955T>C (p.Arg985=)
 gnomAD v4
7g.117611639T>GCA457230009CFTRc.3198T>G (p.Arg1066=)
c.*2912T>G (n.*2912T>G)
c.3015T>G (p.Arg1005=)
c.*1498T>G (n.*1498T>G)
c.*3022T>G (n.*3022T>G)
c.2772T>G (p.Arg924=)
c.789T>G (p.Arg263=)
c.848T>G
c.1980T>G (p.Arg660=)
c.3108T>G (p.Arg1036=)
c.23T>G
c.3288T>G (p.Arg1096=)
c.2955T>G (p.Arg985=)
7g.117611639T=CA1737386945CFTRc.3198T= (p.Arg1066=)
c.*2912T= (n.*2912T=)
c.3015T= (p.Arg1005=)
c.*1498T= (n.*1498T=)
c.*3022T= (n.*3022T=)
c.2772T= (p.Arg924=)
c.789T= (p.Arg263=)
c.848T=
c.1980T= (p.Arg660=)
c.3108T= (p.Arg1036=)
c.23T=
c.3288T= (p.Arg1096=)
c.2955T= (p.Arg985=)
7g.117611640G>ACA221024CFTRc.3199G>A (p.Ala1067Thr)
c.*2913G>A (n.*2913G>A)
c.3016G>A (p.Ala1006Thr)
c.*1499G>A (n.*1499G>A)
c.*3023G>A (n.*3023G>A)
c.2773G>A (p.Ala925Thr)
c.790G>A (p.Ala264Thr)
c.849G>A
c.1981G>A (p.Ala661Thr)
c.3109G>A (p.Ala1037Thr)
c.24G>A
c.3289G>A (p.Ala1097Thr)
c.2956G>A (p.Ala986Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117611640G>CCA327088CFTRc.3199G>C (p.Ala1067Pro)
c.*2913G>C (n.*2913G>C)
c.3016G>C (p.Ala1006Pro)
c.*1499G>C (n.*1499G>C)
c.*3023G>C (n.*3023G>C)
c.2773G>C (p.Ala925Pro)
c.790G>C (p.Ala264Pro)
c.849G>C
c.1981G>C (p.Ala661Pro)
c.3109G>C (p.Ala1037Pro)
c.24G>C
c.3289G>C (p.Ala1097Pro)
c.2956G>C (p.Ala986Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117611640G=CA1737386955CFTRc.3199G= (p.Ala1067=)
c.*2913G= (n.*2913G=)
c.3016G= (p.Ala1006=)
c.*1499G= (n.*1499G=)
c.*3023G= (n.*3023G=)
c.2773G= (p.Ala925=)
c.790G= (p.Ala264=)
c.849G=
c.1981G= (p.Ala661=)
c.3109G= (p.Ala1037=)
c.24G=
c.3289G= (p.Ala1097=)
c.2956G= (p.Ala986=)
7g.117611640G>TCA368992049CFTRc.3199G>T (p.Ala1067Ser)
c.*2913G>T (n.*2913G>T)
c.3016G>T (p.Ala1006Ser)
c.*1499G>T (n.*1499G>T)
c.*3023G>T (n.*3023G>T)
c.2773G>T (p.Ala925Ser)
c.790G>T (p.Ala264Ser)
c.849G>T
c.1981G>T (p.Ala661Ser)
c.3109G>T (p.Ala1037Ser)
c.24G>T
c.3289G>T (p.Ala1097Ser)
c.2956G>T (p.Ala986Ser)
7g.117611641C>ACA327091CFTRc.3200C>A (p.Ala1067Asp)
c.*2914C>A (n.*2914C>A)
c.3017C>A (p.Ala1006Asp)
c.*1500C>A (n.*1500C>A)
c.*3024C>A (n.*3024C>A)
c.2774C>A (p.Ala925Asp)
c.791C>A (p.Ala264Asp)
c.850C>A
c.1982C>A (p.Ala661Asp)
c.3110C>A (p.Ala1037Asp)
c.25C>A
c.3290C>A (p.Ala1097Asp)
c.2957C>A (p.Ala986Asp)
 dbSNP gnomAD v4
7g.117611641C=CA1737386970CFTRc.3200C= (p.Ala1067=)
c.*2914C= (n.*2914C=)
c.3017C= (p.Ala1006=)
c.*1500C= (n.*1500C=)
c.*3024C= (n.*3024C=)
c.2774C= (p.Ala925=)
c.791C= (p.Ala264=)
c.850C=
c.1982C= (p.Ala661=)
c.3110C= (p.Ala1037=)
c.25C=
c.3290C= (p.Ala1097=)
c.2957C= (p.Ala986=)
7g.117611641C>GCA327093CFTRc.3200C>G (p.Ala1067Gly)
c.*2914C>G (n.*2914C>G)
c.3017C>G (p.Ala1006Gly)
c.*1500C>G (n.*1500C>G)
c.*3024C>G (n.*3024C>G)
c.2774C>G (p.Ala925Gly)
c.791C>G (p.Ala264Gly)
c.850C>G
c.1982C>G (p.Ala661Gly)
c.3110C>G (p.Ala1037Gly)
c.25C>G
c.3290C>G (p.Ala1097Gly)
c.2957C>G (p.Ala986Gly)
 ClinVar dbSNP gnomAD v4
7g.117611641C>TCA327095CFTRc.3200C>T (p.Ala1067Val)
c.*2914C>T (n.*2914C>T)
c.3017C>T (p.Ala1006Val)
c.*1500C>T (n.*1500C>T)
c.*3024C>T (n.*3024C>T)
c.2774C>T (p.Ala925Val)
c.791C>T (p.Ala264Val)
c.850C>T
c.1982C>T (p.Ala661Val)
c.3110C>T (p.Ala1037Val)
c.25C>T
c.3290C>T (p.Ala1097Val)
c.2957C>T (p.Ala986Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611642C>ACA457230010CFTRc.3201C>A (p.Ala1067=)
c.*2915C>A (n.*2915C>A)
c.3018C>A (p.Ala1006=)
c.*1501C>A (n.*1501C>A)
c.*3025C>A (n.*3025C>A)
c.2775C>A (p.Ala925=)
c.792C>A (p.Ala264=)
c.851C>A
c.1983C>A (p.Ala661=)
c.3111C>A (p.Ala1037=)
c.26C>A
c.3291C>A (p.Ala1097=)
c.2958C>A (p.Ala986=)
7g.117611642C=CA1737386979CFTRc.3201C= (p.Ala1067=)
c.*2915C= (n.*2915C=)
c.3018C= (p.Ala1006=)
c.*1501C= (n.*1501C=)
c.*3025C= (n.*3025C=)
c.2775C= (p.Ala925=)
c.792C= (p.Ala264=)
c.851C=
c.1983C= (p.Ala661=)
c.3111C= (p.Ala1037=)
c.26C=
c.3291C= (p.Ala1097=)
c.2958C= (p.Ala986=)
7g.117611642C>GCA457230011CFTRc.3201C>G (p.Ala1067=)
c.*2915C>G (n.*2915C>G)
c.3018C>G (p.Ala1006=)
c.*1501C>G (n.*1501C>G)
c.*3025C>G (n.*3025C>G)
c.2775C>G (p.Ala925=)
c.792C>G (p.Ala264=)
c.851C>G
c.1983C>G (p.Ala661=)
c.3111C>G (p.Ala1037=)
c.26C>G
c.3291C>G (p.Ala1097=)
c.2958C>G (p.Ala986=)
7g.117611642C>TCA4451407CFTRc.3201C>T (p.Ala1067=)
c.*2915C>T (n.*2915C>T)
c.3018C>T (p.Ala1006=)
c.*1501C>T (n.*1501C>T)
c.*3025C>T (n.*3025C>T)
c.2775C>T (p.Ala925=)
c.792C>T (p.Ala264=)
c.851C>T
c.1983C>T (p.Ala661=)
c.3111C>T (p.Ala1037=)
c.26C>T
c.3291C>T (p.Ala1097=)
c.2958C>T (p.Ala986=)
 dbSNP ExAC
7g.117611643T>ACA368992061CFTRc.3202T>A (p.Phe1068Ile)
c.*2916T>A (n.*2916T>A)
c.3019T>A (p.Phe1007Ile)
c.*1502T>A (n.*1502T>A)
c.*3026T>A (n.*3026T>A)
c.2776T>A (p.Phe926Ile)
c.793T>A (p.Phe265Ile)
c.852T>A
c.1984T>A (p.Phe662Ile)
c.3112T>A (p.Phe1038Ile)
c.27T>A
c.3292T>A (p.Phe1098Ile)
c.2959T>A (p.Phe987Ile)
7g.117611643T>CCA368992063CFTRc.3202T>C (p.Phe1068Leu)
c.*2916T>C (n.*2916T>C)
c.3019T>C (p.Phe1007Leu)
c.*1502T>C (n.*1502T>C)
c.*3026T>C (n.*3026T>C)
c.2776T>C (p.Phe926Leu)
c.793T>C (p.Phe265Leu)
c.852T>C
c.1984T>C (p.Phe662Leu)
c.3112T>C (p.Phe1038Leu)
c.27T>C
c.3292T>C (p.Phe1098Leu)
c.2959T>C (p.Phe987Leu)
7g.117611643T>GCA368992066CFTRc.3202T>G (p.Phe1068Val)
c.*2916T>G (n.*2916T>G)
c.3019T>G (p.Phe1007Val)
c.*1502T>G (n.*1502T>G)
c.*3026T>G (n.*3026T>G)
c.2776T>G (p.Phe926Val)
c.793T>G (p.Phe265Val)
c.852T>G
c.1984T>G (p.Phe662Val)
c.3112T>G (p.Phe1038Val)
c.27T>G
c.3292T>G (p.Phe1098Val)
c.2959T>G (p.Phe987Val)
 ClinVar gnomAD v4
7g.117611644T>ACA368992073CFTRc.3203T>A (p.Phe1068Tyr)
c.*2917T>A (n.*2917T>A)
c.3020T>A (p.Phe1007Tyr)
c.*1503T>A (n.*1503T>A)
c.*3027T>A (n.*3027T>A)
c.2777T>A (p.Phe926Tyr)
c.794T>A (p.Phe265Tyr)
c.853T>A
c.1985T>A (p.Phe662Tyr)
c.3113T>A (p.Phe1038Tyr)
c.28T>A
c.3293T>A (p.Phe1098Tyr)
c.2960T>A (p.Phe987Tyr)
7g.117611644T>CCA368992075CFTRc.3203T>C (p.Phe1068Ser)
c.*2917T>C (n.*2917T>C)
c.3020T>C (p.Phe1007Ser)
c.*1503T>C (n.*1503T>C)
c.*3027T>C (n.*3027T>C)
c.2777T>C (p.Phe926Ser)
c.794T>C (p.Phe265Ser)
c.853T>C
c.1985T>C (p.Phe662Ser)
c.3113T>C (p.Phe1038Ser)
c.28T>C
c.3293T>C (p.Phe1098Ser)
c.2960T>C (p.Phe987Ser)
7g.117611644T>GCA368992077CFTRc.3203T>G (p.Phe1068Cys)
c.*2917T>G (n.*2917T>G)
c.3020T>G (p.Phe1007Cys)
c.*1503T>G (n.*1503T>G)
c.*3027T>G (n.*3027T>G)
c.2777T>G (p.Phe926Cys)
c.794T>G (p.Phe265Cys)
c.853T>G
c.1985T>G (p.Phe662Cys)
c.3113T>G (p.Phe1038Cys)
c.28T>G
c.3293T>G (p.Phe1098Cys)
c.2960T>G (p.Phe987Cys)
7g.117611645C>ACA368992079CFTRc.3204C>A (p.Phe1068Leu)
c.*2918C>A (n.*2918C>A)
c.3021C>A (p.Phe1007Leu)
c.*1504C>A (n.*1504C>A)
c.*3028C>A (n.*3028C>A)
c.2778C>A (p.Phe926Leu)
c.795C>A (p.Phe265Leu)
c.854C>A
c.1986C>A (p.Phe662Leu)
c.3114C>A (p.Phe1038Leu)
c.29C>A
c.3294C>A (p.Phe1098Leu)
c.2961C>A (p.Phe987Leu)
 dbSNP
7g.117611645C=CA1737386989CFTRc.3204C= (p.Phe1068=)
c.*2918C= (n.*2918C=)
c.3021C= (p.Phe1007=)
c.*1504C= (n.*1504C=)
c.*3028C= (n.*3028C=)
c.2778C= (p.Phe926=)
c.795C= (p.Phe265=)
c.854C=
c.1986C= (p.Phe662=)
c.3114C= (p.Phe1038=)
c.29C=
c.3294C= (p.Phe1098=)
c.2961C= (p.Phe987=)
7g.117611645C>GCA368992081CFTRc.3204C>G (p.Phe1068Leu)
c.*2918C>G (n.*2918C>G)
c.3021C>G (p.Phe1007Leu)
c.*1504C>G (n.*1504C>G)
c.*3028C>G (n.*3028C>G)
c.2778C>G (p.Phe926Leu)
c.795C>G (p.Phe265Leu)
c.854C>G
c.1986C>G (p.Phe662Leu)
c.3114C>G (p.Phe1038Leu)
c.29C>G
c.3294C>G (p.Phe1098Leu)
c.2961C>G (p.Phe987Leu)
7g.117611645C>TCA4451408CFTRc.3204C>T (p.Phe1068=)
c.*2918C>T (n.*2918C>T)
c.3021C>T (p.Phe1007=)
c.*1504C>T (n.*1504C>T)
c.*3028C>T (n.*3028C>T)
c.2778C>T (p.Phe926=)
c.795C>T (p.Phe265=)
c.854C>T
c.1986C>T (p.Phe662=)
c.3114C>T (p.Phe1038=)
c.29C>T
c.3294C>T (p.Phe1098=)
c.2961C>T (p.Phe987=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611646G>ACA327097CFTRc.3205G>A (p.Gly1069Arg)
c.*2919G>A (n.*2919G>A)
c.3022G>A (p.Gly1008Arg)
c.*1505G>A (n.*1505G>A)
c.*3029G>A (n.*3029G>A)
c.2779G>A (p.Gly927Arg)
c.796G>A (p.Gly266Arg)
c.855G>A
c.1987G>A (p.Gly663Arg)
c.3115G>A (p.Gly1039Arg)
c.30G>A
c.3295G>A (p.Gly1099Arg)
c.2962G>A (p.Gly988Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117611646G>CCA368992085CFTRc.3205G>C (p.Gly1069Arg)
c.*2919G>C (n.*2919G>C)
c.3022G>C (p.Gly1008Arg)
c.*1505G>C (n.*1505G>C)
c.*3029G>C (n.*3029G>C)
c.2779G>C (p.Gly927Arg)
c.796G>C (p.Gly266Arg)
c.855G>C
c.1987G>C (p.Gly663Arg)
c.3115G>C (p.Gly1039Arg)
c.30G>C
c.3295G>C (p.Gly1099Arg)
c.2962G>C (p.Gly988Arg)
7g.117611646G=CA1737386994CFTRc.3205G= (p.Gly1069=)
c.*2919G= (n.*2919G=)
c.3022G= (p.Gly1008=)
c.*1505G= (n.*1505G=)
c.*3029G= (n.*3029G=)
c.2779G= (p.Gly927=)
c.796G= (p.Gly266=)
c.855G=
c.1987G= (p.Gly663=)
c.3115G= (p.Gly1039=)
c.30G=
c.3295G= (p.Gly1099=)
c.2962G= (p.Gly988=)
7g.117611646G>TCA368992084CFTRc.3205G>T (p.Gly1069Ter)
c.*2919G>T (n.*2919G>T)
c.3022G>T (p.Gly1008Ter)
c.*1505G>T (n.*1505G>T)
c.*3029G>T (n.*3029G>T)
c.2779G>T (p.Gly927Ter)
c.796G>T (p.Gly266Ter)
c.855G>T
c.1987G>T (p.Gly663Ter)
c.3115G>T (p.Gly1039Ter)
c.30G>T
c.3295G>T (p.Gly1099Ter)
c.2962G>T (p.Gly988Ter)
 dbSNP gnomAD v3 gnomAD v4
7g.117611647G>ACA368992086CFTRc.3206G>A (p.Gly1069Glu)
c.*2920G>A (n.*2920G>A)
c.3023G>A (p.Gly1008Glu)
c.*1506G>A (n.*1506G>A)
c.*3030G>A (n.*3030G>A)
c.2780G>A (p.Gly927Glu)
c.797G>A (p.Gly266Glu)
c.856G>A
c.1988G>A (p.Gly663Glu)
c.3116G>A (p.Gly1039Glu)
c.31G>A
c.3296G>A (p.Gly1099Glu)
c.2963G>A (p.Gly988Glu)
7g.117611647G>CCA368992087CFTRc.3206G>C (p.Gly1069Ala)
c.*2920G>C (n.*2920G>C)
c.3023G>C (p.Gly1008Ala)
c.*1506G>C (n.*1506G>C)
c.*3030G>C (n.*3030G>C)
c.2780G>C (p.Gly927Ala)
c.797G>C (p.Gly266Ala)
c.856G>C
c.1988G>C (p.Gly663Ala)
c.3116G>C (p.Gly1039Ala)
c.31G>C
c.3296G>C (p.Gly1099Ala)
c.2963G>C (p.Gly988Ala)
7g.117611647G>TCA368992088CFTRc.3206G>T (p.Gly1069Val)
c.*2920G>T (n.*2920G>T)
c.3023G>T (p.Gly1008Val)
c.*1506G>T (n.*1506G>T)
c.*3030G>T (n.*3030G>T)
c.2780G>T (p.Gly927Val)
c.797G>T (p.Gly266Val)
c.856G>T
c.1988G>T (p.Gly663Val)
c.3116G>T (p.Gly1039Val)
c.31G>T
c.3296G>T (p.Gly1099Val)
c.2963G>T (p.Gly988Val)
 gnomAD v4
7g.117611648A=CA1737386999CFTRc.3207A= (p.Gly1069=)
c.*2921A= (n.*2921A=)
c.3024A= (p.Gly1008=)
c.*1507A= (n.*1507A=)
c.*3031A= (n.*3031A=)
c.2781A= (p.Gly927=)
c.798A= (p.Gly266=)
c.857A=
c.1989A= (p.Gly663=)
c.3117A= (p.Gly1039=)
c.32A=
c.3297A= (p.Gly1099=)
c.2964A= (p.Gly988=)
7g.117611648A>CCA457230012CFTRc.3207A>C (p.Gly1069=)
c.*2921A>C (n.*2921A>C)
c.3024A>C (p.Gly1008=)
c.*1507A>C (n.*1507A>C)
c.*3031A>C (n.*3031A>C)
c.2781A>C (p.Gly927=)
c.798A>C (p.Gly266=)
c.857A>C
c.1989A>C (p.Gly663=)
c.3117A>C (p.Gly1039=)
c.32A>C
c.3297A>C (p.Gly1099=)
c.2964A>C (p.Gly988=)
7g.117611648A>GCA457230013CFTRc.3207A>G (p.Gly1069=)
c.*2921A>G (n.*2921A>G)
c.3024A>G (p.Gly1008=)
c.*1507A>G (n.*1507A>G)
c.*3031A>G (n.*3031A>G)
c.2781A>G (p.Gly927=)
c.798A>G (p.Gly266=)
c.857A>G
c.1989A>G (p.Gly663=)
c.3117A>G (p.Gly1039=)
c.32A>G
c.3297A>G (p.Gly1099=)
c.2964A>G (p.Gly988=)
 COSMIC
7g.117611648A>TCA457230014CFTRc.3207A>T (p.Gly1069=)
c.*2921A>T (n.*2921A>T)
c.3024A>T (p.Gly1008=)
c.*1507A>T (n.*1507A>T)
c.*3031A>T (n.*3031A>T)
c.2781A>T (p.Gly927=)
c.798A>T (p.Gly266=)
c.857A>T
c.1989A>T (p.Gly663=)
c.3117A>T (p.Gly1039=)
c.32A>T
c.3297A>T (p.Gly1099=)
c.2964A>T (p.Gly988=)
 dbSNP gnomAD v2 gnomAD v4
7g.117611649C>ACA457230015CFTRc.3208C>A (p.Arg1070=)
c.*2922C>A (n.*2922C>A)
c.3025C>A (p.Arg1009=)
c.*1508C>A (n.*1508C>A)
c.*3032C>A (n.*3032C>A)
c.2782C>A (p.Arg928=)
c.799C>A (p.Arg267=)
c.858C>A
c.1990C>A (p.Arg664=)
c.3118C>A (p.Arg1040=)
c.33C>A
c.3298C>A (p.Arg1100=)
c.2965C>A (p.Arg989=)
 gnomAD v4
7g.117611649C=CA1737387005CFTRc.3208C= (p.Arg1070=)
c.*2922C= (n.*2922C=)
c.3025C= (p.Arg1009=)
c.*1508C= (n.*1508C=)
c.*3032C= (n.*3032C=)
c.2782C= (p.Arg928=)
c.799C= (p.Arg267=)
c.858C=
c.1990C= (p.Arg664=)
c.3118C= (p.Arg1040=)
c.33C=
c.3298C= (p.Arg1100=)
c.2965C= (p.Arg989=)
7g.117611649C>GCA368992089CFTRc.3208C>G (p.Arg1070Gly)
c.*2922C>G (n.*2922C>G)
c.3025C>G (p.Arg1009Gly)
c.*1508C>G (n.*1508C>G)
c.*3032C>G (n.*3032C>G)
c.2782C>G (p.Arg928Gly)
c.799C>G (p.Arg267Gly)
c.858C>G
c.1990C>G (p.Arg664Gly)
c.3118C>G (p.Arg1040Gly)
c.33C>G
c.3298C>G (p.Arg1100Gly)
c.2965C>G (p.Arg989Gly)
7g.117611649C>TCA327099CFTRc.3208C>T (p.Arg1070Trp)
c.*2922C>T (n.*2922C>T)
c.3025C>T (p.Arg1009Trp)
c.*1508C>T (n.*1508C>T)
c.*3032C>T (n.*3032C>T)
c.2782C>T (p.Arg928Trp)
c.799C>T (p.Arg267Trp)
c.858C>T
c.1990C>T (p.Arg664Trp)
c.3118C>T (p.Arg1040Trp)
c.33C>T
c.3298C>T (p.Arg1100Trp)
c.2965C>T (p.Arg989Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611650G>ACA275095CFTRc.3209G>A (p.Arg1070Gln)
c.*2923G>A (n.*2923G>A)
c.3026G>A (p.Arg1009Gln)
c.*1509G>A (n.*1509G>A)
c.*3033G>A (n.*3033G>A)
c.2783G>A (p.Arg928Gln)
c.800G>A (p.Arg267Gln)
c.859G>A
c.1991G>A (p.Arg664Gln)
c.3119G>A (p.Arg1040Gln)
c.34G>A
c.3299G>A (p.Arg1100Gln)
c.2966G>A (p.Arg989Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611650G>CCA327100CFTRc.3209G>C (p.Arg1070Pro)
c.*2923G>C (n.*2923G>C)
c.3026G>C (p.Arg1009Pro)
c.*1509G>C (n.*1509G>C)
c.*3033G>C (n.*3033G>C)
c.2783G>C (p.Arg928Pro)
c.800G>C (p.Arg267Pro)
c.859G>C
c.1991G>C (p.Arg664Pro)
c.3119G>C (p.Arg1040Pro)
c.34G>C
c.3299G>C (p.Arg1100Pro)
c.2966G>C (p.Arg989Pro)
 ClinVar dbSNP
7g.117611650G=CA1737387022CFTRc.3209G= (p.Arg1070=)
c.*2923G= (n.*2923G=)
c.3026G= (p.Arg1009=)
c.*1509G= (n.*1509G=)
c.*3033G= (n.*3033G=)
c.2783G= (p.Arg928=)
c.800G= (p.Arg267=)
c.859G=
c.1991G= (p.Arg664=)
c.3119G= (p.Arg1040=)
c.34G=
c.3299G= (p.Arg1100=)
c.2966G= (p.Arg989=)
7g.117611650G>TCA368992092CFTRc.3209G>T (p.Arg1070Leu)
c.*2923G>T (n.*2923G>T)
c.3026G>T (p.Arg1009Leu)
c.*1509G>T (n.*1509G>T)
c.*3033G>T (n.*3033G>T)
c.2783G>T (p.Arg928Leu)
c.800G>T (p.Arg267Leu)
c.859G>T
c.1991G>T (p.Arg664Leu)
c.3119G>T (p.Arg1040Leu)
c.34G>T
c.3299G>T (p.Arg1100Leu)
c.2966G>T (p.Arg989Leu)
 COSMIC
7g.117611651G>ACA457230016CFTRc.3210G>A (p.Arg1070=)
c.*2924G>A (n.*2924G>A)
c.3027G>A (p.Arg1009=)
c.*1510G>A (n.*1510G>A)
c.*3034G>A (n.*3034G>A)
c.2784G>A (p.Arg928=)
c.801G>A (p.Arg267=)
c.860G>A
c.1992G>A (p.Arg664=)
c.3120G>A (p.Arg1040=)
c.35G>A
c.3300G>A (p.Arg1100=)
c.2967G>A (p.Arg989=)
 ClinVar dbSNP gnomAD v4
7g.117611651G>CCA457230017CFTRc.3210G>C (p.Arg1070=)
c.*2924G>C (n.*2924G>C)
c.3027G>C (p.Arg1009=)
c.*1510G>C (n.*1510G>C)
c.*3034G>C (n.*3034G>C)
c.2784G>C (p.Arg928=)
c.801G>C (p.Arg267=)
c.860G>C
c.1992G>C (p.Arg664=)
c.3120G>C (p.Arg1040=)
c.35G>C
c.3300G>C (p.Arg1100=)
c.2967G>C (p.Arg989=)
7g.117611651G=CA1737387026CFTRc.3210G= (p.Arg1070=)
c.*2924G= (n.*2924G=)
c.3027G= (p.Arg1009=)
c.*1510G= (n.*1510G=)
c.*3034G= (n.*3034G=)
c.2784G= (p.Arg928=)
c.801G= (p.Arg267=)
c.860G=
c.1992G= (p.Arg664=)
c.3120G= (p.Arg1040=)
c.35G=
c.3300G= (p.Arg1100=)
c.2967G= (p.Arg989=)
7g.117611651G>TCA457230018CFTRc.3210G>T (p.Arg1070=)
c.*2924G>T (n.*2924G>T)
c.3027G>T (p.Arg1009=)
c.*1510G>T (n.*1510G>T)
c.*3034G>T (n.*3034G>T)
c.2784G>T (p.Arg928=)
c.801G>T (p.Arg267=)
c.860G>T
c.1992G>T (p.Arg664=)
c.3120G>T (p.Arg1040=)
c.35G>T
c.3300G>T (p.Arg1100=)
c.2967G>T (p.Arg989=)
 dbSNP
7g.117611652C>ACA368992094CFTRc.3211C>A (p.Gln1071Lys)
c.*2925C>A (n.*2925C>A)
c.3028C>A (p.Gln1010Lys)
c.*1511C>A (n.*1511C>A)
c.*3035C>A (n.*3035C>A)
c.2785C>A (p.Gln929Lys)
c.802C>A (p.Gln268Lys)
c.861C>A
c.1993C>A (p.Gln665Lys)
c.3121C>A (p.Gln1041Lys)
c.36C>A
c.3301C>A (p.Gln1101Lys)
c.2968C>A (p.Gln990Lys)
7g.117611652C=CA1737387030CFTRc.3211C= (p.Gln1071=)
c.*2925C= (n.*2925C=)
c.3028C= (p.Gln1010=)
c.*1511C= (n.*1511C=)
c.*3035C= (n.*3035C=)
c.2785C= (p.Gln929=)
c.802C= (p.Gln268=)
c.861C=
c.1993C= (p.Gln665=)
c.3121C= (p.Gln1041=)
c.36C=
c.3301C= (p.Gln1101=)
c.2968C= (p.Gln990=)
7g.117611652C>GCA368992095CFTRc.3211C>G (p.Gln1071Glu)
c.*2925C>G (n.*2925C>G)
c.3028C>G (p.Gln1010Glu)
c.*1511C>G (n.*1511C>G)
c.*3035C>G (n.*3035C>G)
c.2785C>G (p.Gln929Glu)
c.802C>G (p.Gln268Glu)
c.861C>G
c.1993C>G (p.Gln665Glu)
c.3121C>G (p.Gln1041Glu)
c.36C>G
c.3301C>G (p.Gln1101Glu)
c.2968C>G (p.Gln990Glu)
7g.117611652C>TCA327101CFTRc.3211C>T (p.Gln1071Ter)
c.*2925C>T (n.*2925C>T)
c.3028C>T (p.Gln1010Ter)
c.*1511C>T (n.*1511C>T)
c.*3035C>T (n.*3035C>T)
c.2785C>T (p.Gln929Ter)
c.802C>T (p.Gln268Ter)
c.861C>T
c.1993C>T (p.Gln665Ter)
c.3121C>T (p.Gln1041Ter)
c.36C>T
c.3301C>T (p.Gln1101Ter)
c.2968C>T (p.Gln990Ter)
 ClinVar dbSNP COSMIC
7g.117611653A=CA1737387041CFTRc.3212A= (p.Gln1071=)
c.*2926A= (n.*2926A=)
c.3029A= (p.Gln1010=)
c.*1512A= (n.*1512A=)
c.*3036A= (n.*3036A=)
c.2786A= (p.Gln929=)
c.803A= (p.Gln268=)
c.862A=
c.1994A= (p.Gln665=)
c.3122A= (p.Gln1041=)
c.37A=
c.3302A= (p.Gln1101=)
c.2969A= (p.Gln990=)
7g.117611653A>CCA325597CFTRc.3212A>C (p.Gln1071Pro)
c.*2926A>C (n.*2926A>C)
c.3029A>C (p.Gln1010Pro)
c.*1512A>C (n.*1512A>C)
c.*3036A>C (n.*3036A>C)
c.2786A>C (p.Gln929Pro)
c.803A>C (p.Gln268Pro)
c.862A>C
c.1994A>C (p.Gln665Pro)
c.3122A>C (p.Gln1041Pro)
c.37A>C
c.3302A>C (p.Gln1101Pro)
c.2969A>C (p.Gln990Pro)
 ClinVar dbSNP
7g.117611653A>GCA368992101CFTRc.3212A>G (p.Gln1071Arg)
c.*2926A>G (n.*2926A>G)
c.3029A>G (p.Gln1010Arg)
c.*1512A>G (n.*1512A>G)
c.*3036A>G (n.*3036A>G)
c.2786A>G (p.Gln929Arg)
c.803A>G (p.Gln268Arg)
c.862A>G
c.1994A>G (p.Gln665Arg)
c.3122A>G (p.Gln1041Arg)
c.37A>G
c.3302A>G (p.Gln1101Arg)
c.2969A>G (p.Gln990Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117611653A>TCA368992099CFTRc.3212A>T (p.Gln1071Leu)
c.*2926A>T (n.*2926A>T)
c.3029A>T (p.Gln1010Leu)
c.*1512A>T (n.*1512A>T)
c.*3036A>T (n.*3036A>T)
c.2786A>T (p.Gln929Leu)
c.803A>T (p.Gln268Leu)
c.862A>T
c.1994A>T (p.Gln665Leu)
c.3122A>T (p.Gln1041Leu)
c.37A>T
c.3302A>T (p.Gln1101Leu)
c.2969A>T (p.Gln990Leu)
7g.117611654G>ACA457230019CFTRc.3213G>A (p.Gln1071=)
c.*2927G>A (n.*2927G>A)
c.3030G>A (p.Gln1010=)
c.*1513G>A (n.*1513G>A)
c.*3037G>A (n.*3037G>A)
c.2787G>A (p.Gln929=)
c.804G>A (p.Gln268=)
c.863G>A
c.1995G>A (p.Gln665=)
c.3123G>A (p.Gln1041=)
c.38G>A
c.3303G>A (p.Gln1101=)
c.2970G>A (p.Gln990=)
 ClinVar gnomAD v4
7g.117611654G>CCA368992102CFTRc.3213G>C (p.Gln1071His)
c.*2927G>C (n.*2927G>C)
c.3030G>C (p.Gln1010His)
c.*1513G>C (n.*1513G>C)
c.*3037G>C (n.*3037G>C)
c.2787G>C (p.Gln929His)
c.804G>C (p.Gln268His)
c.863G>C
c.1995G>C (p.Gln665His)
c.3123G>C (p.Gln1041His)
c.38G>C
c.3303G>C (p.Gln1101His)
c.2970G>C (p.Gln990His)
7g.117611654G>TCA368992104CFTRc.3213G>T (p.Gln1071His)
c.*2927G>T (n.*2927G>T)
c.3030G>T (p.Gln1010His)
c.*1513G>T (n.*1513G>T)
c.*3037G>T (n.*3037G>T)
c.2787G>T (p.Gln929His)
c.804G>T (p.Gln268His)
c.863G>T
c.1995G>T (p.Gln665His)
c.3123G>T (p.Gln1041His)
c.38G>T
c.3303G>T (p.Gln1101His)
c.2970G>T (p.Gln990His)
 gnomAD v4
7g.117611655C>ACA368992106CFTRc.3214C>A (p.Pro1072Thr)
c.*2928C>A (n.*2928C>A)
c.3031C>A (p.Pro1011Thr)
c.*1514C>A (n.*1514C>A)
c.*3038C>A (n.*3038C>A)
c.2788C>A (p.Pro930Thr)
c.805C>A (p.Pro269Thr)
c.864C>A
c.1996C>A (p.Pro666Thr)
c.3124C>A (p.Pro1042Thr)
c.39C>A
c.3304C>A (p.Pro1102Thr)
c.2971C>A (p.Pro991Thr)
7g.117611655C=CA1737387053CFTRc.3214C= (p.Pro1072=)
c.*2928C= (n.*2928C=)
c.3031C= (p.Pro1011=)
c.*1514C= (n.*1514C=)
c.*3038C= (n.*3038C=)
c.2788C= (p.Pro930=)
c.805C= (p.Pro269=)
c.864C=
c.1996C= (p.Pro666=)
c.3124C= (p.Pro1042=)
c.39C=
c.3304C= (p.Pro1102=)
c.2971C= (p.Pro991=)
7g.117611655C>GCA368992108CFTRc.3214C>G (p.Pro1072Ala)
c.*2928C>G (n.*2928C>G)
c.3031C>G (p.Pro1011Ala)
c.*1514C>G (n.*1514C>G)
c.*3038C>G (n.*3038C>G)
c.2788C>G (p.Pro930Ala)
c.805C>G (p.Pro269Ala)
c.864C>G
c.1996C>G (p.Pro666Ala)
c.3124C>G (p.Pro1042Ala)
c.39C>G
c.3304C>G (p.Pro1102Ala)
c.2971C>G (p.Pro991Ala)
7g.117611655C>TCA368992109CFTRc.3214C>T (p.Pro1072Ser)
c.*2928C>T (n.*2928C>T)
c.3031C>T (p.Pro1011Ser)
c.*1514C>T (n.*1514C>T)
c.*3038C>T (n.*3038C>T)
c.2788C>T (p.Pro930Ser)
c.805C>T (p.Pro269Ser)
c.864C>T
c.1996C>T (p.Pro666Ser)
c.3124C>T (p.Pro1042Ser)
c.39C>T
c.3304C>T (p.Pro1102Ser)
c.2971C>T (p.Pro991Ser)
 ClinVar dbSNP
7g.117611656C>ACA368992113CFTRc.3215C>A (p.Pro1072His)
c.*2929C>A (n.*2929C>A)
c.3032C>A (p.Pro1011His)
c.*1515C>A (n.*1515C>A)
c.*3039C>A (n.*3039C>A)
c.2789C>A (p.Pro930His)
c.806C>A (p.Pro269His)
c.865C>A
c.1997C>A (p.Pro666His)
c.3125C>A (p.Pro1042His)
c.40C>A
c.3305C>A (p.Pro1102His)
c.2972C>A (p.Pro991His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117611656C=CA1737387057CFTRc.3215C= (p.Pro1072=)
c.*2929C= (n.*2929C=)
c.3032C= (p.Pro1011=)
c.*1515C= (n.*1515C=)
c.*3039C= (n.*3039C=)
c.2789C= (p.Pro930=)
c.806C= (p.Pro269=)
c.865C=
c.1997C= (p.Pro666=)
c.3125C= (p.Pro1042=)
c.40C=
c.3305C= (p.Pro1102=)
c.2972C= (p.Pro991=)
7g.117611656C>GCA368992115CFTRc.3215C>G (p.Pro1072Arg)
c.*2929C>G (n.*2929C>G)
c.3032C>G (p.Pro1011Arg)
c.*1515C>G (n.*1515C>G)
c.*3039C>G (n.*3039C>G)
c.2789C>G (p.Pro930Arg)
c.806C>G (p.Pro269Arg)
c.865C>G
c.1997C>G (p.Pro666Arg)
c.3125C>G (p.Pro1042Arg)
c.40C>G
c.3305C>G (p.Pro1102Arg)
c.2972C>G (p.Pro991Arg)
7g.117611656C>TCA368992116CFTRc.3215C>T (p.Pro1072Leu)
c.*2929C>T (n.*2929C>T)
c.3032C>T (p.Pro1011Leu)
c.*1515C>T (n.*1515C>T)
c.*3039C>T (n.*3039C>T)
c.2789C>T (p.Pro930Leu)
c.806C>T (p.Pro269Leu)
c.865C>T
c.1997C>T (p.Pro666Leu)
c.3125C>T (p.Pro1042Leu)
c.40C>T
c.3305C>T (p.Pro1102Leu)
c.2972C>T (p.Pro991Leu)
7g.117611657T>ACA457230020CFTRc.3216T>A (p.Pro1072=)
c.*2930T>A (n.*2930T>A)
c.3033T>A (p.Pro1011=)
c.*1516T>A (n.*1516T>A)
c.*3040T>A (n.*3040T>A)
c.2790T>A (p.Pro930=)
c.807T>A (p.Pro269=)
c.866T>A
c.1998T>A (p.Pro666=)
c.3126T>A (p.Pro1042=)
c.41T>A
c.3306T>A (p.Pro1102=)
c.2973T>A (p.Pro991=)
7g.117611657T>CCA457230021CFTRc.3216T>C (p.Pro1072=)
c.*2930T>C (n.*2930T>C)
c.3033T>C (p.Pro1011=)
c.*1516T>C (n.*1516T>C)
c.*3040T>C (n.*3040T>C)
c.2790T>C (p.Pro930=)
c.807T>C (p.Pro269=)
c.866T>C
c.1998T>C (p.Pro666=)
c.3126T>C (p.Pro1042=)
c.41T>C
c.3306T>C (p.Pro1102=)
c.2973T>C (p.Pro991=)
7g.117611657T>GCA457230022CFTRc.3216T>G (p.Pro1072=)
c.*2930T>G (n.*2930T>G)
c.3033T>G (p.Pro1011=)
c.*1516T>G (n.*1516T>G)
c.*3040T>G (n.*3040T>G)
c.2790T>G (p.Pro930=)
c.807T>G (p.Pro269=)
c.866T>G
c.1998T>G (p.Pro666=)
c.3126T>G (p.Pro1042=)
c.41T>G
c.3306T>G (p.Pro1102=)
c.2973T>G (p.Pro991=)
7g.117611658dupCA4451409CFTRc.3217dup (p.Tyr1073LeufsTer3)
c.*2931dup (n.*2931dup)
c.3034dup (p.Tyr1012LeufsTer3)
c.*1517dup (n.*1517dup)
c.*3041dup (n.*3041dup)
c.2791dup (p.Tyr931LeufsTer3)
c.808dup (p.Tyr270LeufsTer3)
c.867dup
c.1999dup (p.Tyr667LeufsTer3)
c.3127dup (p.Tyr1043LeufsTer3)
c.42dup
c.3307dup (p.Tyr1103LeufsTer3)
c.2974dup (p.Tyr992LeufsTer3)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117611658T>ACA368992118CFTRc.3217T>A (p.Tyr1073Asn)
c.*2931T>A (n.*2931T>A)
c.3034T>A (p.Tyr1012Asn)
c.*1517T>A (n.*1517T>A)
c.*3041T>A (n.*3041T>A)
c.2791T>A (p.Tyr931Asn)
c.808T>A (p.Tyr270Asn)
c.867T>A
c.1999T>A (p.Tyr667Asn)
c.3127T>A (p.Tyr1043Asn)
c.42T>A
c.3307T>A (p.Tyr1103Asn)
c.2974T>A (p.Tyr992Asn)
7g.117611658T>CCA368992120CFTRc.3217T>C (p.Tyr1073His)
c.*2931T>C (n.*2931T>C)
c.3034T>C (p.Tyr1012His)
c.*1517T>C (n.*1517T>C)
c.*3041T>C (n.*3041T>C)
c.2791T>C (p.Tyr931His)
c.808T>C (p.Tyr270His)
c.867T>C
c.1999T>C (p.Tyr667His)
c.3127T>C (p.Tyr1043His)
c.42T>C
c.3307T>C (p.Tyr1103His)
c.2974T>C (p.Tyr992His)
7g.117611658T>GCA368992122CFTRc.3217T>G (p.Tyr1073Asp)
c.*2931T>G (n.*2931T>G)
c.3034T>G (p.Tyr1012Asp)
c.*1517T>G (n.*1517T>G)
c.*3041T>G (n.*3041T>G)
c.2791T>G (p.Tyr931Asp)
c.808T>G (p.Tyr270Asp)
c.867T>G
c.1999T>G (p.Tyr667Asp)
c.3127T>G (p.Tyr1043Asp)
c.42T>G
c.3307T>G (p.Tyr1103Asp)
c.2974T>G (p.Tyr992Asp)
 gnomAD v4
7g.117611659A>CCA368992128CFTRc.3218A>C (p.Tyr1073Ser)
c.*2932A>C (n.*2932A>C)
c.3035A>C (p.Tyr1012Ser)
c.*1518A>C (n.*1518A>C)
c.*3042A>C (n.*3042A>C)
c.2792A>C (p.Tyr931Ser)
c.809A>C (p.Tyr270Ser)
c.868A>C
c.2000A>C (p.Tyr667Ser)
c.3128A>C (p.Tyr1043Ser)
c.43A>C
c.3308A>C (p.Tyr1103Ser)
c.2975A>C (p.Tyr992Ser)
7g.117611659A>GCA368992125CFTRc.3218A>G (p.Tyr1073Cys)
c.*2932A>G (n.*2932A>G)
c.3035A>G (p.Tyr1012Cys)
c.*1518A>G (n.*1518A>G)
c.*3042A>G (n.*3042A>G)
c.2792A>G (p.Tyr931Cys)
c.809A>G (p.Tyr270Cys)
c.868A>G
c.2000A>G (p.Tyr667Cys)
c.3128A>G (p.Tyr1043Cys)
c.43A>G
c.3308A>G (p.Tyr1103Cys)
c.2975A>G (p.Tyr992Cys)
7g.117611659A>TCA368992126CFTRc.3218A>T (p.Tyr1073Phe)
c.*2932A>T (n.*2932A>T)
c.3035A>T (p.Tyr1012Phe)
c.*1518A>T (n.*1518A>T)
c.*3042A>T (n.*3042A>T)
c.2792A>T (p.Tyr931Phe)
c.809A>T (p.Tyr270Phe)
c.868A>T
c.2000A>T (p.Tyr667Phe)
c.3128A>T (p.Tyr1043Phe)
c.43A>T
c.3308A>T (p.Tyr1103Phe)
c.2975A>T (p.Tyr992Phe)
7g.117611659_117611660delinsACCA1737387069CFTRc.3218_3219delinsAC (p.Tyr1073=)
c.*2932_*2933delinsAC (n.*2932_*2933delinsAC)
c.3035_3036delinsAC (p.Tyr1012=)
c.*1518_*1519delinsAC (n.*1518_*1519delinsAC)
c.*3042_*3043delinsAC (n.*3042_*3043delinsAC)
c.2792_2793delinsAC (p.Tyr931=)
c.809_810delinsAC (p.Tyr270=)
c.868_869delinsAC
c.2000_2001delinsAC (p.Tyr667=)
c.3128_3129delinsAC (p.Tyr1043=)
c.43_44delinsAC
c.3308_3309delinsAC (p.Tyr1103=)
c.2975_2976delinsAC (p.Tyr992=)
7g.117611660delCA918111983CFTRc.3219del (p.Phe1074LeufsTer9)
c.*2933del (n.*2933del)
c.3036del (p.Phe1013LeufsTer9)
c.*1519del (n.*1519del)
c.*3043del (n.*3043del)
c.2793del (p.Phe932LeufsTer9)
c.810del (p.Phe271LeufsTer9)
c.869del
c.2001del (p.Phe668LeufsTer9)
c.3129del (p.Phe1044LeufsTer9)
c.44del
c.3309del (p.Phe1104LeufsTer9)
c.2976del (p.Phe993LeufsTer9)
 dbSNP
7g.117611660C>ACA368992131CFTRc.3219C>A (p.Tyr1073Ter)
c.*2933C>A (n.*2933C>A)
c.3036C>A (p.Tyr1012Ter)
c.*1519C>A (n.*1519C>A)
c.*3043C>A (n.*3043C>A)
c.2793C>A (p.Tyr931Ter)
c.810C>A (p.Tyr270Ter)
c.869C>A
c.2001C>A (p.Tyr667Ter)
c.3129C>A (p.Tyr1043Ter)
c.44C>A
c.3309C>A (p.Tyr1103Ter)
c.2976C>A (p.Tyr992Ter)
7g.117611660C=CA1737387074CFTRc.3219C= (p.Tyr1073=)
c.*2933C= (n.*2933C=)
c.3036C= (p.Tyr1012=)
c.*1519C= (n.*1519C=)
c.*3043C= (n.*3043C=)
c.2793C= (p.Tyr931=)
c.810C= (p.Tyr270=)
c.869C=
c.2001C= (p.Tyr667=)
c.3129C= (p.Tyr1043=)
c.44C=
c.3309C= (p.Tyr1103=)
c.2976C= (p.Tyr992=)
7g.117611660C>GCA368992132CFTRc.3219C>G (p.Tyr1073Ter)
c.*2933C>G (n.*2933C>G)
c.3036C>G (p.Tyr1012Ter)
c.*1519C>G (n.*1519C>G)
c.*3043C>G (n.*3043C>G)
c.2793C>G (p.Tyr931Ter)
c.810C>G (p.Tyr270Ter)
c.869C>G
c.2001C>G (p.Tyr667Ter)
c.3129C>G (p.Tyr1043Ter)
c.44C>G
c.3309C>G (p.Tyr1103Ter)
c.2976C>G (p.Tyr992Ter)
7g.117611660C>TCA457230023CFTRc.3219C>T (p.Tyr1073=)
c.*2933C>T (n.*2933C>T)
c.3036C>T (p.Tyr1012=)
c.*1519C>T (n.*1519C>T)
c.*3043C>T (n.*3043C>T)
c.2793C>T (p.Tyr931=)
c.810C>T (p.Tyr270=)
c.869C>T
c.2001C>T (p.Tyr667=)
c.3129C>T (p.Tyr1043=)
c.44C>T
c.3309C>T (p.Tyr1103=)
c.2976C>T (p.Tyr992=)
 ClinVar dbSNP gnomAD v4
7g.117611661T>ACA368992134CFTRc.3220T>A (p.Phe1074Ile)
c.*2934T>A (n.*2934T>A)
c.3037T>A (p.Phe1013Ile)
c.*1520T>A (n.*1520T>A)
c.*3044T>A (n.*3044T>A)
c.2794T>A (p.Phe932Ile)
c.811T>A (p.Phe271Ile)
c.870T>A
c.2002T>A (p.Phe668Ile)
c.3130T>A (p.Phe1044Ile)
c.45T>A
c.3310T>A (p.Phe1104Ile)
c.2977T>A (p.Phe993Ile)
7g.117611661T>CCA368992136CFTRc.3220T>C (p.Phe1074Leu)
c.*2934T>C (n.*2934T>C)
c.3037T>C (p.Phe1013Leu)
c.*1520T>C (n.*1520T>C)
c.*3044T>C (n.*3044T>C)
c.2794T>C (p.Phe932Leu)
c.811T>C (p.Phe271Leu)
c.870T>C
c.2002T>C (p.Phe668Leu)
c.3130T>C (p.Phe1044Leu)
c.45T>C
c.3310T>C (p.Phe1104Leu)
c.2977T>C (p.Phe993Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117611661T>GCA368992138CFTRc.3220T>G (p.Phe1074Val)
c.*2934T>G (n.*2934T>G)
c.3037T>G (p.Phe1013Val)
c.*1520T>G (n.*1520T>G)
c.*3044T>G (n.*3044T>G)
c.2794T>G (p.Phe932Val)
c.811T>G (p.Phe271Val)
c.870T>G
c.2002T>G (p.Phe668Val)
c.3130T>G (p.Phe1044Val)
c.45T>G
c.3310T>G (p.Phe1104Val)
c.2977T>G (p.Phe993Val)
7g.117611661T=CA1737387077CFTRc.3220T= (p.Phe1074=)
c.*2934T= (n.*2934T=)
c.3037T= (p.Phe1013=)
c.*1520T= (n.*1520T=)
c.*3044T= (n.*3044T=)
c.2794T= (p.Phe932=)
c.811T= (p.Phe271=)
c.870T=
c.2002T= (p.Phe668=)
c.3130T= (p.Phe1044=)
c.45T=
c.3310T= (p.Phe1104=)
c.2977T= (p.Phe993=)
7g.117611662T>ACA368992139CFTRc.3221T>A (p.Phe1074Tyr)
c.*2935T>A (n.*2935T>A)
c.3038T>A (p.Phe1013Tyr)
c.*1521T>A (n.*1521T>A)
c.*3045T>A (n.*3045T>A)
c.2795T>A (p.Phe932Tyr)
c.812T>A (p.Phe271Tyr)
c.871T>A
c.2003T>A (p.Phe668Tyr)
c.3131T>A (p.Phe1044Tyr)
c.46T>A
c.3311T>A (p.Phe1104Tyr)
c.2978T>A (p.Phe993Tyr)
7g.117611662T>CCA368992141CFTRc.3221T>C (p.Phe1074Ser)
c.*2935T>C (n.*2935T>C)
c.3038T>C (p.Phe1013Ser)
c.*1521T>C (n.*1521T>C)
c.*3045T>C (n.*3045T>C)
c.2795T>C (p.Phe932Ser)
c.812T>C (p.Phe271Ser)
c.871T>C
c.2003T>C (p.Phe668Ser)
c.3131T>C (p.Phe1044Ser)
c.46T>C
c.3311T>C (p.Phe1104Ser)
c.2978T>C (p.Phe993Ser)
7g.117611662T>GCA368992142CFTRc.3221T>G (p.Phe1074Cys)
c.*2935T>G (n.*2935T>G)
c.3038T>G (p.Phe1013Cys)
c.*1521T>G (n.*1521T>G)
c.*3045T>G (n.*3045T>G)
c.2795T>G (p.Phe932Cys)
c.812T>G (p.Phe271Cys)
c.871T>G
c.2003T>G (p.Phe668Cys)
c.3131T>G (p.Phe1044Cys)
c.46T>G
c.3311T>G (p.Phe1104Cys)
c.2978T>G (p.Phe993Cys)
7g.117611663T>ACA327103CFTRc.3222T>A (p.Phe1074Leu)
c.*2936T>A (n.*2936T>A)
c.3039T>A (p.Phe1013Leu)
c.*1522T>A (n.*1522T>A)
c.*3046T>A (n.*3046T>A)
c.2796T>A (p.Phe932Leu)
c.813T>A (p.Phe271Leu)
c.872T>A
c.2004T>A (p.Phe668Leu)
c.3132T>A (p.Phe1044Leu)
c.47T>A
c.3312T>A (p.Phe1104Leu)
c.2979T>A (p.Phe993Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117611663T>CCA457230024CFTRc.3222T>C (p.Phe1074=)
c.*2936T>C (n.*2936T>C)
c.3039T>C (p.Phe1013=)
c.*1522T>C (n.*1522T>C)
c.*3046T>C (n.*3046T>C)
c.2796T>C (p.Phe932=)
c.813T>C (p.Phe271=)
c.872T>C
c.2004T>C (p.Phe668=)
c.3132T>C (p.Phe1044=)
c.47T>C
c.3312T>C (p.Phe1104=)
c.2979T>C (p.Phe993=)
7g.117611663T>GCA368992145CFTRc.3222T>G (p.Phe1074Leu)
c.*2936T>G (n.*2936T>G)
c.3039T>G (p.Phe1013Leu)
c.*1522T>G (n.*1522T>G)
c.*3046T>G (n.*3046T>G)
c.2796T>G (p.Phe932Leu)
c.813T>G (p.Phe271Leu)
c.872T>G
c.2004T>G (p.Phe668Leu)
c.3132T>G (p.Phe1044Leu)
c.47T>G
c.3312T>G (p.Phe1104Leu)
c.2979T>G (p.Phe993Leu)
 dbSNP
7g.117611663T=CA1737387082CFTRc.3222T= (p.Phe1074=)
c.*2936T= (n.*2936T=)
c.3039T= (p.Phe1013=)
c.*1522T= (n.*1522T=)
c.*3046T= (n.*3046T=)
c.2796T= (p.Phe932=)
c.813T= (p.Phe271=)
c.872T=
c.2004T= (p.Phe668=)
c.3132T= (p.Phe1044=)
c.47T=
c.3312T= (p.Phe1104=)
c.2979T= (p.Phe993=)
7g.117611664G>ACA368992146CFTRc.3223G>A (p.Glu1075Lys)
c.*2937G>A (n.*2937G>A)
c.3040G>A (p.Glu1014Lys)
c.*1523G>A (n.*1523G>A)
c.*3047G>A (n.*3047G>A)
c.2797G>A (p.Glu933Lys)
c.814G>A (p.Glu272Lys)
c.873G>A
c.2005G>A (p.Glu669Lys)
c.3133G>A (p.Glu1045Lys)
c.48G>A
c.3313G>A (p.Glu1105Lys)
c.2980G>A (p.Glu994Lys)
7g.117611664G>CCA368992147CFTRc.3223G>C (p.Glu1075Gln)
c.*2937G>C (n.*2937G>C)
c.3040G>C (p.Glu1014Gln)
c.*1523G>C (n.*1523G>C)
c.*3047G>C (n.*3047G>C)
c.2797G>C (p.Glu933Gln)
c.814G>C (p.Glu272Gln)
c.873G>C
c.2005G>C (p.Glu669Gln)
c.3133G>C (p.Glu1045Gln)
c.48G>C
c.3313G>C (p.Glu1105Gln)
c.2980G>C (p.Glu994Gln)
7g.117611664G>TCA368992149CFTRc.3223G>T (p.Glu1075Ter)
c.*2937G>T (n.*2937G>T)
c.3040G>T (p.Glu1014Ter)
c.*1523G>T (n.*1523G>T)
c.*3047G>T (n.*3047G>T)
c.2797G>T (p.Glu933Ter)
c.814G>T (p.Glu272Ter)
c.873G>T
c.2005G>T (p.Glu669Ter)
c.3133G>T (p.Glu1045Ter)
c.48G>T
c.3313G>T (p.Glu1105Ter)
c.2980G>T (p.Glu994Ter)
7g.117611665A>CCA368992153CFTRc.3224A>C (p.Glu1075Ala)
c.*2938A>C (n.*2938A>C)
c.3041A>C (p.Glu1014Ala)
c.*1524A>C (n.*1524A>C)
c.*3048A>C (n.*3048A>C)
c.2798A>C (p.Glu933Ala)
c.815A>C (p.Glu272Ala)
c.874A>C
c.2006A>C (p.Glu669Ala)
c.3134A>C (p.Glu1045Ala)
c.49A>C
c.3314A>C (p.Glu1105Ala)
c.2981A>C (p.Glu994Ala)
7g.117611665A>GCA368992154CFTRc.3224A>G (p.Glu1075Gly)
c.*2938A>G (n.*2938A>G)
c.3041A>G (p.Glu1014Gly)
c.*1524A>G (n.*1524A>G)
c.*3048A>G (n.*3048A>G)
c.2798A>G (p.Glu933Gly)
c.815A>G (p.Glu272Gly)
c.874A>G
c.2006A>G (p.Glu669Gly)
c.3134A>G (p.Glu1045Gly)
c.49A>G
c.3314A>G (p.Glu1105Gly)
c.2981A>G (p.Glu994Gly)
7g.117611665A>TCA368992151CFTRc.3224A>T (p.Glu1075Val)
c.*2938A>T (n.*2938A>T)
c.3041A>T (p.Glu1014Val)
c.*1524A>T (n.*1524A>T)
c.*3048A>T (n.*3048A>T)
c.2798A>T (p.Glu933Val)
c.815A>T (p.Glu272Val)
c.874A>T
c.2006A>T (p.Glu669Val)
c.3134A>T (p.Glu1045Val)
c.49A>T
c.3314A>T (p.Glu1105Val)
c.2981A>T (p.Glu994Val)

Number of alleles fetched