| 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.117611617T>A | CA368991945 | CFTR | c.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) | |
| 7 | g.117611617T>C | CA368991946 | CFTR | c.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) | |
| 7 | g.117611617T>G | CA327074 | CFTR | c.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 |
| 7 | g.117611617T= | CA1737386774 | CFTR | c.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=) | |
| 7 | g.117611618A= | CA1737386789 | CFTR | c.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=) | |
| 7 | g.117611618A>C | CA368991949 | CFTR | c.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) | |
| 7 | g.117611618A>G | CA327076 | CFTR | c.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 |
| 7 | g.117611618A>T | CA368991952 | CFTR | c.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) | |
| 7 | g.117611621del | CA2580076368 | CFTR | c.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 |
| 7 | g.117611619A= | CA1737386800 | CFTR | c.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=) | |
| 7 | g.117611619A>C | CA368991954 | CFTR | c.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) | |
| 7 | g.117611619A>G | CA368991956 | CFTR | c.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 |
| 7 | g.117611619A>T | CA368991958 | CFTR | c.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) | |
| 7 | g.117611620A= | CA1737386805 | CFTR | c.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=) | |
| 7 | g.117611620A>C | CA327078 | CFTR | c.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 |
| 7 | g.117611620A>G | CA368991962 | CFTR | c.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) | |
| 7 | g.117611620A>T | CA368991964 | CFTR | c.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) | |
| 7 | g.117611621A= | CA1737386813 | CFTR | c.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=) | |
| 7 | g.117611621A>C | CA368991966 | CFTR | c.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 |
| 7 | g.117611621A>G | CA10576717 | CFTR | c.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 |
| 7 | g.117611621A>T | CA368991968 | CFTR | c.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) | |
| 7 | g.117611622G>A | CA368991973 | CFTR | c.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 |
| 7 | g.117611622G>C | CA221023 | CFTR | c.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 |
| 7 | g.117611622G= | CA1737386826 | CFTR | c.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=) | |
| 7 | g.117611622G>T | CA368991977 | CFTR | c.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) | |
| 7 | g.117611626_117611632del | CA2573141588 | CFTR | c.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 |
| 7 | g.117611623G>A | CA368991980 | CFTR | c.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 |
| 7 | g.117611623G>C | CA368991983 | CFTR | c.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) | |
| 7 | g.117611623G= | CA1737386834 | CFTR | c.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=) | |
| 7 | g.117611623G>T | CA368991985 | CFTR | c.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 |
| 7 | g.117611624A= | CA1737386841 | CFTR | c.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=) | |
| 7 | g.117611624A>C | CA457229994 | CFTR | c.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=) | |
| 7 | g.117611624A>G | CA457229995 | CFTR | c.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 |
| 7 | g.117611624A>T | CA457229996 | CFTR | c.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=) | |
| 7 | g.117611625C>A | CA368991987 | CFTR | c.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) | |
| 7 | g.117611625C>G | CA368991989 | CFTR | c.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) | |
| 7 | g.117611625C>T | CA457229997 | CFTR | c.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 |
| 7 | g.117611625_117611629dup | CA325557 | CFTR | c.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 |
| 7 | g.117611626T>A | CA368991995 | CFTR | c.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) |