| 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.117611635T>A | CA368992036 | CFTR | c.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) | |
| 7 | g.117611635T>C | CA325596 | CFTR | c.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 |
| 7 | g.117611635T>G | CA327084 | CFTR | c.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 |
| 7 | g.117611635T= | CA1737386915 | CFTR | c.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=) | |
| 7 | g.117611636T>A | CA457230004 | CFTR | c.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=) | |
| 7 | g.117611636T>C | CA457230005 | CFTR | c.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=) | |
| 7 | g.117611636T>G | CA457230006 | CFTR | c.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 |
| 7 | g.117611637C>A | CA327085 | CFTR | c.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 |
| 7 | g.117611637C= | CA1737386931 | CFTR | c.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=) | |
| 7 | g.117611637C>G | CA368992041 | CFTR | c.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) | |
| 7 | g.117611637C>T | CA325558 | CFTR | c.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 |
| 7 | g.117611638G>A | CA325555 | CFTR | c.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 |
| 7 | g.117611638G>C | CA368992046 | CFTR | c.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) | |
| 7 | g.117611638G= | CA1737386939 | CFTR | c.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=) | |
| 7 | g.117611638G>T | CA327087 | CFTR | c.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 |
| 7 | g.117611639T>A | CA457230007 | CFTR | c.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 |
| 7 | g.117611639T>C | CA457230008 | CFTR | c.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 |
| 7 | g.117611639T>G | CA457230009 | CFTR | c.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=) | |
| 7 | g.117611639T= | CA1737386945 | CFTR | c.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=) | |
| 7 | g.117611640G>A | CA221024 | CFTR | c.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 |
| 7 | g.117611640G>C | CA327088 | CFTR | c.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 |
| 7 | g.117611640G= | CA1737386955 | CFTR | c.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=) | |
| 7 | g.117611640G>T | CA368992049 | CFTR | c.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) | |
| 7 | g.117611641C>A | CA327091 | CFTR | c.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 |
| 7 | g.117611641C= | CA1737386970 | CFTR | c.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=) | |
| 7 | g.117611641C>G | CA327093 | CFTR | c.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 |
| 7 | g.117611641C>T | CA327095 | CFTR | c.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 |
| 7 | g.117611642C>A | CA457230010 | CFTR | c.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=) | |
| 7 | g.117611642C= | CA1737386979 | CFTR | c.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=) | |
| 7 | g.117611642C>G | CA457230011 | CFTR | c.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=) | |
| 7 | g.117611642C>T | CA4451407 | CFTR | c.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 |
| 7 | g.117611643T>A | CA368992061 | CFTR | c.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) | |
| 7 | g.117611643T>C | CA368992063 | CFTR | c.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) | |
| 7 | g.117611643T>G | CA368992066 | CFTR | c.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 |
| 7 | g.117611644T>A | CA368992073 | CFTR | c.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) | |
| 7 | g.117611644T>C | CA368992075 | CFTR | c.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) | |
| 7 | g.117611644T>G | CA368992077 | CFTR | c.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) | |
| 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 |