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.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=)
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=)
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)

Number of alleles fetched