| 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.117609611_117610615delinsGACAG | CA915945433 | CFTR | c.2989-908_3085delinsGACAG c.*2703-908_*2799delinsGACAG c.2806-908_2902delinsGACAG c.*1289-908_*1385delinsGACAG c.*2813-908_*2909delinsGACAG c.2563-908_2659delinsGACAG c.580-908_676delinsGACAG c.639-908_735delinsGACAG c.1771-908_1867delinsGACAG c.2899-908_2995delinsGACAG c.3079-908_3175delinsGACAG c.2746-908_2842delinsGACAG | 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.117610516_117610667delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA | CA1737384620 | CFTR | c.2989-3_3137delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.*2703-3_*2851delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.2806-3_2954delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.*1289-3_*1437delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.*2813-3_*2961delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.2563-3_2711delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.580-3_728delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.639-3_787delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.1771-3_1919delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.2899-3_3047delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.3079-3_3227delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA c.2746-3_2894delinsCAGTTGTTATTAATTGTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTGCCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTCAAACAACTGGAATCTGA | |
| 7 | g.117610519_117610669del | CA326999 | CFTR | c.2989_3139del c.*2703_*2853del c.2806_2956del c.*1289_*1439del c.*2813_*2963del c.2563_2713del c.580_730del c.639_789del c.1771_1921del c.2899_3049del c.3079_3229del c.2746_2896del | ClinVar dbSNP |
| 7 | g.117610518G>A | CA345319 | CFTR | c.2989-1G>A (n.2989-1G>A) c.*2703-1G>A (n.*2703-1G>A) c.2806-1G>A (n.2806-1G>A) c.*1289-1G>A (n.*1289-1G>A) c.*2813-1G>A (n.*2813-1G>A) c.2563-1G>A (n.2563-1G>A) c.580-1G>A (n.580-1G>A) c.639-1G>A c.1771-1G>A (n.1771-1G>A) c.2899-1G>A (n.2899-1G>A) c.3079-1G>A (n.3079-1G>A) c.2746-1G>A (n.2746-1G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.117610518G>C | CA368990230 | CFTR | c.2989-1G>C (n.2989-1G>C) c.*2703-1G>C (n.*2703-1G>C) c.2806-1G>C (n.2806-1G>C) c.*1289-1G>C (n.*1289-1G>C) c.*2813-1G>C (n.*2813-1G>C) c.2563-1G>C (n.2563-1G>C) c.580-1G>C (n.580-1G>C) c.639-1G>C c.1771-1G>C (n.1771-1G>C) c.2899-1G>C (n.2899-1G>C) c.3079-1G>C (n.3079-1G>C) c.2746-1G>C (n.2746-1G>C) | |
| 7 | g.117610518G= | CA1737384637 | CFTR | c.2989-1G= (n.2989-1G=) c.*2703-1G= (n.*2703-1G=) c.2806-1G= (n.2806-1G=) c.*1289-1G= (n.*1289-1G=) c.*2813-1G= (n.*2813-1G=) c.2563-1G= (n.2563-1G=) c.580-1G= (n.580-1G=) c.639-1G= c.1771-1G= (n.1771-1G=) c.2899-1G= (n.2899-1G=) c.3079-1G= (n.3079-1G=) c.2746-1G= (n.2746-1G=) | |
| 7 | g.117610518G>T | CA368990231 | CFTR | c.2989-1G>T (n.2989-1G>T) c.*2703-1G>T (n.*2703-1G>T) c.2806-1G>T (n.2806-1G>T) c.*1289-1G>T (n.*1289-1G>T) c.*2813-1G>T (n.*2813-1G>T) c.2563-1G>T (n.2563-1G>T) c.580-1G>T (n.580-1G>T) c.639-1G>T c.1771-1G>T (n.1771-1G>T) c.2899-1G>T (n.2899-1G>T) c.3079-1G>T (n.3079-1G>T) c.2746-1G>T (n.2746-1G>T) | |
| 7 | g.117610521_117610523del | CA645541519 | CFTR | c.2991_2993del c.*2705_*2707del c.2808_2810del c.*1291_*1293del c.*2815_*2817del c.2565_2567del c.582_584del c.641_643del c.1773_1775del c.2901_2903del c.3081_3083del c.2748_2750del | COSMIC |
| 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.117610519T>A | CA368990234 | CFTR | c.2989T>A (p.Leu997Met) c.*2703T>A (n.*2703T>A) c.2806T>A (p.Leu936Met) c.*1289T>A (n.*1289T>A) c.*2813T>A (n.*2813T>A) c.2563T>A (p.Leu855Met) c.580T>A (p.Leu194Met) c.639T>A c.1771T>A (p.Leu591Met) c.2899T>A (p.Leu967Met) c.3079T>A (p.Leu1027Met) c.2746T>A (p.Leu916Met) | |
| 7 | g.117610519T>C | CA457229343 | CFTR | c.2989T>C (p.Leu997=) c.*2703T>C (n.*2703T>C) c.2806T>C (p.Leu936=) c.*1289T>C (n.*1289T>C) c.*2813T>C (n.*2813T>C) c.2563T>C (p.Leu855=) c.580T>C (p.Leu194=) c.639T>C c.1771T>C (p.Leu591=) c.2899T>C (p.Leu967=) c.3079T>C (p.Leu1027=) c.2746T>C (p.Leu916=) | |
| 7 | g.117610519T>G | CA368990236 | CFTR | c.2989T>G (p.Leu997Val) c.*2703T>G (n.*2703T>G) c.2806T>G (p.Leu936Val) c.*1289T>G (n.*1289T>G) c.*2813T>G (n.*2813T>G) c.2563T>G (p.Leu855Val) c.580T>G (p.Leu194Val) c.639T>G c.1771T>G (p.Leu591Val) c.2899T>G (p.Leu967Val) c.3079T>G (p.Leu1027Val) c.2746T>G (p.Leu916Val) | |
| 7 | g.117610520T>A | CA368990247 | CFTR | c.2990T>A (p.Leu997Ter) c.*2704T>A (n.*2704T>A) c.2807T>A (p.Leu936Ter) c.*1290T>A (n.*1290T>A) c.*2814T>A (n.*2814T>A) c.2564T>A (p.Leu855Ter) c.581T>A (p.Leu194Ter) c.640T>A c.1772T>A (p.Leu591Ter) c.2900T>A (p.Leu967Ter) c.3080T>A (p.Leu1027Ter) c.2747T>A (p.Leu916Ter) | gnomAD v4 |
| 7 | g.117610520T>C | CA368990244 | CFTR | c.2990T>C (p.Leu997Ser) c.*2704T>C (n.*2704T>C) c.2807T>C (p.Leu936Ser) c.*1290T>C (n.*1290T>C) c.*2814T>C (n.*2814T>C) c.2564T>C (p.Leu855Ser) c.581T>C (p.Leu194Ser) c.640T>C c.1772T>C (p.Leu591Ser) c.2900T>C (p.Leu967Ser) c.3080T>C (p.Leu1027Ser) c.2747T>C (p.Leu916Ser) | |
| 7 | g.117610520T>G | CA368990238 | CFTR | c.2990T>G (p.Leu997Trp) c.*2704T>G (n.*2704T>G) c.2807T>G (p.Leu936Trp) c.*1290T>G (n.*1290T>G) c.*2814T>G (n.*2814T>G) c.2564T>G (p.Leu855Trp) c.581T>G (p.Leu194Trp) c.640T>G c.1772T>G (p.Leu591Trp) c.2900T>G (p.Leu967Trp) c.3080T>G (p.Leu1027Trp) c.2747T>G (p.Leu916Trp) | |
| 7 | g.117610521G>A | CA457229344 | CFTR | c.2991G>A (p.Leu997=) c.*2705G>A (n.*2705G>A) c.2808G>A (p.Leu936=) c.*1291G>A (n.*1291G>A) c.*2815G>A (n.*2815G>A) c.2565G>A (p.Leu855=) c.582G>A (p.Leu194=) c.641G>A c.1773G>A (p.Leu591=) c.2901G>A (p.Leu967=) c.3081G>A (p.Leu1027=) c.2748G>A (p.Leu916=) | ClinVar dbSNP |
| 7 | g.117610521G>C | CA090907 | CFTR | c.2991G>C (p.Leu997Phe) c.*2705G>C (n.*2705G>C) c.2808G>C (p.Leu936Phe) c.*1291G>C (n.*1291G>C) c.*2815G>C (n.*2815G>C) c.2565G>C (p.Leu855Phe) c.582G>C (p.Leu194Phe) c.641G>C c.1773G>C (p.Leu591Phe) c.2901G>C (p.Leu967Phe) c.3081G>C (p.Leu1027Phe) c.2748G>C (p.Leu916Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117610521G= | CA1737384647 | CFTR | c.2991G= (p.Leu997=) c.*2705G= (n.*2705G=) c.2808G= (p.Leu936=) c.*1291G= (n.*1291G=) c.*2815G= (n.*2815G=) c.2565G= (p.Leu855=) c.582G= (p.Leu194=) c.641G= c.1773G= (p.Leu591=) c.2901G= (p.Leu967=) c.3081G= (p.Leu1027=) c.2748G= (p.Leu916=) | |
| 7 | g.117610521G>T | CA368990251 | CFTR | c.2991G>T (p.Leu997Phe) c.*2705G>T (n.*2705G>T) c.2808G>T (p.Leu936Phe) c.*1291G>T (n.*1291G>T) c.*2815G>T (n.*2815G>T) c.2565G>T (p.Leu855Phe) c.582G>T (p.Leu194Phe) c.641G>T c.1773G>T (p.Leu591Phe) c.2901G>T (p.Leu967Phe) c.3081G>T (p.Leu1027Phe) c.2748G>T (p.Leu916Phe) | gnomAD v4 |
| 7 | g.117610521_117610522delinsGT | CA1737384650 | CFTR | c.2991_2992delinsGT (p.Leu997=) c.*2705_*2706delinsGT (n.*2705_*2706delinsGT) c.2808_2809delinsGT (p.Leu936=) c.*1291_*1292delinsGT (n.*1291_*1292delinsGT) c.*2815_*2816delinsGT (n.*2815_*2816delinsGT) c.2565_2566delinsGT (p.Leu855=) c.582_583delinsGT (p.Leu194=) c.641_642delinsGT c.1773_1774delinsGT (p.Leu591=) c.2901_2902delinsGT (p.Leu967=) c.3081_3082delinsGT (p.Leu1027=) c.2748_2749delinsGT (p.Leu916=) | |
| 7 | g.117610522T>A | CA368990254 | CFTR | c.2992T>A (p.Leu998Ile) c.*2706T>A (n.*2706T>A) c.2809T>A (p.Leu937Ile) c.*1292T>A (n.*1292T>A) c.*2816T>A (n.*2816T>A) c.2566T>A (p.Leu856Ile) c.583T>A (p.Leu195Ile) c.642T>A c.1774T>A (p.Leu592Ile) c.2902T>A (p.Leu968Ile) c.3082T>A (p.Leu1028Ile) c.2749T>A (p.Leu917Ile) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117610522T>C | CA457229345 | CFTR | c.2992T>C (p.Leu998=) c.*2706T>C (n.*2706T>C) c.2809T>C (p.Leu937=) c.*1292T>C (n.*1292T>C) c.*2816T>C (n.*2816T>C) c.2566T>C (p.Leu856=) c.583T>C (p.Leu195=) c.642T>C c.1774T>C (p.Leu592=) c.2902T>C (p.Leu968=) c.3082T>C (p.Leu1028=) c.2749T>C (p.Leu917=) | |
| 7 | g.117610522T>G | CA368990258 | CFTR | c.2992T>G (p.Leu998Val) c.*2706T>G (n.*2706T>G) c.2809T>G (p.Leu937Val) c.*1292T>G (n.*1292T>G) c.*2816T>G (n.*2816T>G) c.2566T>G (p.Leu856Val) c.583T>G (p.Leu195Val) c.642T>G c.1774T>G (p.Leu592Val) c.2902T>G (p.Leu968Val) c.3082T>G (p.Leu1028Val) c.2749T>G (p.Leu917Val) | |
| 7 | g.117610523del | CA16041135 | CFTR | c.2993del (p.Leu998TyrfsTer2) c.*2707del (n.*2707del) c.2810del (p.Leu937TyrfsTer2) c.*1293del (n.*1293del) c.*2817del (n.*2817del) c.2567del (p.Leu856TyrfsTer2) c.584del (p.Leu195TyrfsTer2) c.643del c.1775del (p.Leu592TyrfsTer2) c.2903del (p.Leu968TyrfsTer2) c.3083del (p.Leu1028TyrfsTer2) c.2750del (p.Leu917TyrfsTer2) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117610523T>A | CA368990269 | CFTR | c.2993T>A (p.Leu998Ter) c.*2707T>A (n.*2707T>A) c.2810T>A (p.Leu937Ter) c.*1293T>A (n.*1293T>A) c.*2817T>A (n.*2817T>A) c.2567T>A (p.Leu856Ter) c.584T>A (p.Leu195Ter) c.643T>A c.1775T>A (p.Leu592Ter) c.2903T>A (p.Leu968Ter) c.3083T>A (p.Leu1028Ter) c.2750T>A (p.Leu917Ter) | |
| 7 | g.117610523T>C | CA368990263 | CFTR | c.2993T>C (p.Leu998Ser) c.*2707T>C (n.*2707T>C) c.2810T>C (p.Leu937Ser) c.*1293T>C (n.*1293T>C) c.*2817T>C (n.*2817T>C) c.2567T>C (p.Leu856Ser) c.584T>C (p.Leu195Ser) c.643T>C c.1775T>C (p.Leu592Ser) c.2903T>C (p.Leu968Ser) c.3083T>C (p.Leu1028Ser) c.2750T>C (p.Leu917Ser) | |
| 7 | g.117610523T>G | CA368990267 | CFTR | c.2993T>G (p.Leu998Ter) c.*2707T>G (n.*2707T>G) c.2810T>G (p.Leu937Ter) c.*1293T>G (n.*1293T>G) c.*2817T>G (n.*2817T>G) c.2567T>G (p.Leu856Ter) c.584T>G (p.Leu195Ter) c.643T>G c.1775T>G (p.Leu592Ter) c.2903T>G (p.Leu968Ter) c.3083T>G (p.Leu1028Ter) c.2750T>G (p.Leu917Ter) | |
| 7 | g.117610523_117610524delinsTA | CA1737384655 | CFTR | c.2993_2994delinsTA (p.Leu998=) c.*2707_*2708delinsTA (n.*2707_*2708delinsTA) c.2810_2811delinsTA (p.Leu937=) c.*1293_*1294delinsTA (n.*1293_*1294delinsTA) c.*2817_*2818delinsTA (n.*2817_*2818delinsTA) c.2567_2568delinsTA (p.Leu856=) c.584_585delinsTA (p.Leu195=) c.643_644delinsTA c.1775_1776delinsTA (p.Leu592=) c.2903_2904delinsTA (p.Leu968=) c.3083_3084delinsTA (p.Leu1028=) c.2750_2751delinsTA (p.Leu917=) | |
| 7 | g.117610523_117610527delinsTATTA | CA1737384657 | CFTR | c.2993_2997delinsTATTA (p.Leu998=) c.*2707_*2711delinsTATTA (n.*2707_*2711delinsTATTA) c.2810_2814delinsTATTA (p.Leu937=) c.*1293_*1297delinsTATTA (n.*1293_*1297delinsTATTA) c.*2817_*2821delinsTATTA (n.*2817_*2821delinsTATTA) c.2567_2571delinsTATTA (p.Leu856=) c.584_588delinsTATTA (p.Leu195=) c.643_647delinsTATTA c.1775_1779delinsTATTA (p.Leu592=) c.2903_2907delinsTATTA (p.Leu968=) c.3083_3087delinsTATTA (p.Leu1028=) c.2750_2754delinsTATTA (p.Leu917=) | |
| 7 | g.117610524del | CA4451360 | CFTR | c.2994del (p.Leu998PhefsTer2) c.*2708del (n.*2708del) c.2811del (p.Leu937PhefsTer2) c.*1294del (n.*1294del) c.*2818del (n.*2818del) c.2568del (p.Leu856PhefsTer2) c.585del (p.Leu195PhefsTer2) c.644del c.1776del (p.Leu592PhefsTer2) c.2904del (p.Leu968PhefsTer2) c.3084del (p.Leu1028PhefsTer2) c.2751del (p.Leu917PhefsTer2) | ClinVar dbSNP ExAC gnomAD v2 |
| 7 | g.117610524A= | CA1737384672 | CFTR | c.2994A= (p.Leu998=) c.*2708A= (n.*2708A=) c.2811A= (p.Leu937=) c.*1294A= (n.*1294A=) c.*2818A= (n.*2818A=) c.2568A= (p.Leu856=) c.585A= (p.Leu195=) c.644A= c.1776A= (p.Leu592=) c.2904A= (p.Leu968=) c.3084A= (p.Leu1028=) c.2751A= (p.Leu917=) | |
| 7 | g.117610524A>C | CA368990279 | CFTR | c.2994A>C (p.Leu998Phe) c.*2708A>C (n.*2708A>C) c.2811A>C (p.Leu937Phe) c.*1294A>C (n.*1294A>C) c.*2818A>C (n.*2818A>C) c.2568A>C (p.Leu856Phe) c.585A>C (p.Leu195Phe) c.644A>C c.1776A>C (p.Leu592Phe) c.2904A>C (p.Leu968Phe) c.3084A>C (p.Leu1028Phe) c.2751A>C (p.Leu917Phe) | ClinVar |
| 7 | g.117610524A>G | CA4451361 | CFTR | c.2994A>G (p.Leu998=) c.*2708A>G (n.*2708A>G) c.2811A>G (p.Leu937=) c.*1294A>G (n.*1294A>G) c.*2818A>G (n.*2818A>G) c.2568A>G (p.Leu856=) c.585A>G (p.Leu195=) c.644A>G c.1776A>G (p.Leu592=) c.2904A>G (p.Leu968=) c.3084A>G (p.Leu1028=) c.2751A>G (p.Leu917=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117610524A>T | CA368990277 | CFTR | c.2994A>T (p.Leu998Phe) c.*2708A>T (n.*2708A>T) c.2811A>T (p.Leu937Phe) c.*1294A>T (n.*1294A>T) c.*2818A>T (n.*2818A>T) c.2568A>T (p.Leu856Phe) c.585A>T (p.Leu195Phe) c.644A>T c.1776A>T (p.Leu592Phe) c.2904A>T (p.Leu968Phe) c.3084A>T (p.Leu1028Phe) c.2751A>T (p.Leu917Phe) | ClinVar |
| 7 | g.117610527_117610530del | CA327000 | CFTR | c.2997_3000del (p.Ile1000Ter) c.*2711_*2714del (n.*2711_*2714del) c.2814_2817del (p.Ile939Ter) c.*1297_*1300del (n.*1297_*1300del) c.*2821_*2824del (n.*2821_*2824del) c.2571_2574del (p.Ile858Ter) c.588_591del (p.Ile197Ter) c.647_650del c.1779_1782del (p.Ile594Ter) c.2907_2910del (p.Ile970Ter) c.3087_3090del (p.Ile1030Ter) c.2754_2757del (p.Ile919Ter) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117610525T>A | CA368990282 | CFTR | c.2995T>A (p.Leu999Ile) c.*2709T>A (n.*2709T>A) c.2812T>A (p.Leu938Ile) c.*1295T>A (n.*1295T>A) c.*2819T>A (n.*2819T>A) c.2569T>A (p.Leu857Ile) c.586T>A (p.Leu196Ile) c.645T>A c.1777T>A (p.Leu593Ile) c.2905T>A (p.Leu969Ile) c.3085T>A (p.Leu1029Ile) c.2752T>A (p.Leu918Ile) | |
| 7 | g.117610525T>C | CA457229346 | CFTR | c.2995T>C (p.Leu999=) c.*2709T>C (n.*2709T>C) c.2812T>C (p.Leu938=) c.*1295T>C (n.*1295T>C) c.*2819T>C (n.*2819T>C) c.2569T>C (p.Leu857=) c.586T>C (p.Leu196=) c.645T>C c.1777T>C (p.Leu593=) c.2905T>C (p.Leu969=) c.3085T>C (p.Leu1029=) c.2752T>C (p.Leu918=) | gnomAD v3 gnomAD v4 |
| 7 | g.117610525T>G | CA368990285 | CFTR | c.2995T>G (p.Leu999Val) c.*2709T>G (n.*2709T>G) c.2812T>G (p.Leu938Val) c.*1295T>G (n.*1295T>G) c.*2819T>G (n.*2819T>G) c.2569T>G (p.Leu857Val) c.586T>G (p.Leu196Val) c.645T>G c.1777T>G (p.Leu593Val) c.2905T>G (p.Leu969Val) c.3085T>G (p.Leu1029Val) c.2752T>G (p.Leu918Val) | |
| 7 | g.117610526T>A | CA368990288 | CFTR | c.2996T>A (p.Leu999Ter) c.*2710T>A (n.*2710T>A) c.2813T>A (p.Leu938Ter) c.*1296T>A (n.*1296T>A) c.*2820T>A (n.*2820T>A) c.2570T>A (p.Leu857Ter) c.587T>A (p.Leu196Ter) c.646T>A c.1778T>A (p.Leu593Ter) c.2906T>A (p.Leu969Ter) c.3086T>A (p.Leu1029Ter) c.2753T>A (p.Leu918Ter) | |
| 7 | g.117610526T>C | CA368990290 | CFTR | c.2996T>C (p.Leu999Ser) c.*2710T>C (n.*2710T>C) c.2813T>C (p.Leu938Ser) c.*1296T>C (n.*1296T>C) c.*2820T>C (n.*2820T>C) c.2570T>C (p.Leu857Ser) c.587T>C (p.Leu196Ser) c.646T>C c.1778T>C (p.Leu593Ser) c.2906T>C (p.Leu969Ser) c.3086T>C (p.Leu1029Ser) c.2753T>C (p.Leu918Ser) | |
| 7 | g.117610526T>G | CA368990291 | CFTR | c.2996T>G (p.Leu999Ter) c.*2710T>G (n.*2710T>G) c.2813T>G (p.Leu938Ter) c.*1296T>G (n.*1296T>G) c.*2820T>G (n.*2820T>G) c.2570T>G (p.Leu857Ter) c.587T>G (p.Leu196Ter) c.646T>G c.1778T>G (p.Leu593Ter) c.2906T>G (p.Leu969Ter) c.3086T>G (p.Leu1029Ter) c.2753T>G (p.Leu918Ter) |