Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.117602152_117612006del | CA325806 | CFTR | c.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 | |
7 | g.117602152_117612040del | CA2499218685 | CFTR | c.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 |
7 | g.117604867_117612068del | CA913190213 | CFTR | c.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 |
7 | g.117606038_117613002delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG | CA2580076402 | CFTR | c.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 |
7 | g.117606676_117611810del | CA913190200 | CFTR | c.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 |
7 | g.117607926_117616824del | CA1139532136 | CFTR | c.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 | |
7 | g.117608369_117612164delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC | CA2580076408 | CFTR | c.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 |
7 | g.117609542_117612056del | CA325807 | CFTR | c.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 |
7 | g.117610519_117611808del | CA913189830 | CFTR | c.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 |
7 | g.117610519_117614713del | CA913189831 | CFTR | c.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 |
7 | g.117611572A= | CA1737386631 | CFTR | c.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=) | |
7 | g.117611572A>G | CA1106311788 | CFTR | c.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 |
7 | g.117611572A>T | CA2695208432 | CFTR | c.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) | |
7 | g.117611575T>C | CA2684588441 | CFTR | c.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 |
7 | g.117611576C>A | CA2684588442 | CFTR | c.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 |
7 | g.117611576C>T | CA2684588443 | CFTR | c.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 |
7 | g.117611577A= | CA1737386641 | CFTR | c.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=) | |
7 | g.117611577A>G | CA327061 | CFTR | c.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 |
7 | g.117611577A>T | CA164966256 | CFTR | c.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 |
7 | g.117611578C>A | CA2579000252 | CFTR | c.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 |
7 | g.117611578C= | CA1737386644 | CFTR | c.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=) | |
7 | g.117611578C>T | CA164966258 | CFTR | c.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 |
7 | g.117611579A>C | CA368991685 | CFTR | c.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) | |
7 | g.117611579A>G | CA368991687 | CFTR | c.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 |
7 | g.117611579A>T | CA368991682 | CFTR | c.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 |
7 | g.117611580G>A | CA327060 | CFTR | c.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 |
7 | g.117611580G>C | CA368991700 | CFTR | c.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) | |
7 | g.117611580G= | CA1737386655 | CFTR | c.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=) | |
7 | g.117611580G>T | CA368991703 | CFTR | c.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) | |
7 | g.117611582_117614714del | CA913189834 | CFTR | c.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 |
7 | g.117611581G>A | CA327063 | CFTR | c.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 |
7 | g.117611581G>C | CA368991709 | CFTR | c.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) | |
7 | g.117611581G= | CA1737386662 | CFTR | c.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=) | |
7 | g.117611581G>T | CA4451402 | CFTR | c.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 |
7 | g.117611582C>A | CA457229968 | CFTR | c.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 |
7 | g.117611582C= | CA1737386667 | CFTR | c.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=) | |
7 | g.117611582C>G | CA457229969 | CFTR | c.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 |
7 | g.117611582C>T | CA457229970 | CFTR | c.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 |
7 | g.117611583A>C | CA457229971 | CFTR | c.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=) | |
7 | g.117611583A>G | CA368991715 | CFTR | c.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) | |
7 | g.117611583A>T | CA368991718 | CFTR | c.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) | |
7 | g.117611584G>A | CA368991723 | CFTR | c.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 |
7 | g.117611584G>C | CA368991725 | CFTR | c.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) | |
7 | g.117611584G>T | CA368991730 | CFTR | c.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) | |
7 | g.117611585G>A | CA457229972 | CFTR | c.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=) | |
7 | g.117611585G>C | CA368991734 | CFTR | c.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) | |
7 | g.117611585G>T | CA368991737 | CFTR | c.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) | |
7 | g.117611586A>C | CA368991741 | CFTR | c.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) | |
7 | g.117611586A>G | CA368991747 | CFTR | c.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 |
7 | g.117611586A>T | CA368991744 | CFTR | c.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) |