| 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.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.117611633_117611717del | CA2697557585 | CFTR | c.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 |
| 7 | g.117611645C>A | CA368992079 | CFTR | c.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 |
| 7 | g.117611645C= | CA1737386989 | CFTR | c.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=) | |
| 7 | g.117611645C>G | CA368992081 | CFTR | c.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) | |
| 7 | g.117611645C>T | CA4451408 | CFTR | c.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 |
| 7 | g.117611646G>A | CA327097 | CFTR | c.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 |
| 7 | g.117611646G>C | CA368992085 | CFTR | c.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) | |
| 7 | g.117611646G= | CA1737386994 | CFTR | c.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=) | |
| 7 | g.117611646G>T | CA368992084 | CFTR | c.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 |
| 7 | g.117611647G>A | CA368992086 | CFTR | c.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) | |
| 7 | g.117611647G>C | CA368992087 | CFTR | c.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) | |
| 7 | g.117611647G>T | CA368992088 | CFTR | c.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 |
| 7 | g.117611648A= | CA1737386999 | CFTR | c.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=) | |
| 7 | g.117611648A>C | CA457230012 | CFTR | c.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=) | |
| 7 | g.117611648A>G | CA457230013 | CFTR | c.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 |
| 7 | g.117611648A>T | CA457230014 | CFTR | c.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 |
| 7 | g.117611649C>A | CA457230015 | CFTR | c.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 |
| 7 | g.117611649C= | CA1737387005 | CFTR | c.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=) | |
| 7 | g.117611649C>G | CA368992089 | CFTR | c.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) | |
| 7 | g.117611649C>T | CA327099 | CFTR | c.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 |
| 7 | g.117611650G>A | CA275095 | CFTR | c.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 |
| 7 | g.117611650G>C | CA327100 | CFTR | c.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 |
| 7 | g.117611650G= | CA1737387022 | CFTR | c.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=) | |
| 7 | g.117611650G>T | CA368992092 | CFTR | c.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 |
| 7 | g.117611651G>A | CA457230016 | CFTR | c.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 |
| 7 | g.117611651G>C | CA457230017 | CFTR | c.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=) | |
| 7 | g.117611651G= | CA1737387026 | CFTR | c.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=) | |
| 7 | g.117611651G>T | CA457230018 | CFTR | c.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 |
| 7 | g.117611652C>A | CA368992094 | CFTR | c.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) | |
| 7 | g.117611652C= | CA1737387030 | CFTR | c.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=) | |
| 7 | g.117611652C>G | CA368992095 | CFTR | c.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) | |
| 7 | g.117611652C>T | CA327101 | CFTR | c.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 |
| 7 | g.117611653A= | CA1737387041 | CFTR | c.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=) | |
| 7 | g.117611653A>C | CA325597 | CFTR | c.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 |
| 7 | g.117611653A>G | CA368992101 | CFTR | c.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 |
| 7 | g.117611653A>T | CA368992099 | CFTR | c.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) | |
| 7 | g.117611654G>A | CA457230019 | CFTR | c.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 |
| 7 | g.117611654G>C | CA368992102 | CFTR | c.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) | |
| 7 | g.117611654G>T | CA368992104 | CFTR | c.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 |