The CFTR-France database has retrieved 989 VARIANTS, which are displayed below:



Variants listing:
#Exon/intron Name Legacy name Classe
UTR 5 c.-85C>G 48C/G non disease-causing
UTR 5 c.-8G>C 125G/C non disease-causing
UTR 5 c.-966T>G -834T/G ; -895T/G (from the cap site) non disease-causing
UTR 5 c.(?_-1)_(*1_?)del CFTRdele1-24 disease-causing
UTR 5 c.-276_53+2553del disease-causing
UTR 5 c.-6186_273+507dup CFTRdup1-3 disease-causing
UTR 5 c.-165G>A -33G>A unclassified
UTR 5 c.-226G>T unclassified
UTR 5 c.-234T>A -102T>A unclassified
UTR 5 c.-274C>A unclassified
UTR 5 c.-288G>C unclassified
UTR 5 c.-2C>T unclassified
UTR 5 c.-330T>G unclassified
UTR 5 c.-34C>T 99C/T unclassified
UTR 5 c.-461A>G -329A/G unclassified
UTR 5 c.-4G>C 129G/C unclassified
Exon 1 c.25dup disease-causing
Exon 1 c.3G>A M1I(ATA) disease-causing
Exon 1 c.26C>T A9V unclassified
Intron 1 c.54-1161_164+1603del CFTR-dele2 disease-causing
Intron 1 c.53+4A>T 185+4A>T unclassified
Exon 1 c.1A>G M1V disease-causing
Exon 1 c.38C>T S13F disease-causing
Exon 1 c.4C>T Q2X (together with R3W) disease-causing
Exon 1 c.8G>T R3M unclassified
Intron 1 c.53+1G>T 185+1G>T disease-causing
Intron 1 c.54-5940_273+10250del CFTRdele2,3 ; Del exon 2-3 disease-causing
Exon 1 c.14C>T P5L disease-causing
Exon 1 c.2T>C M1T disease-causing
Exon 1 c.49_50dup disease-causing
Exon 1 c.37T>C S13P unclassified
Intron 1 c.53+3158A>G non disease-causing
Intron 1 c.54-5811_164+2186delins182 disease-causing
Intron 1 c.54-589A>G unclassified
Exon 1 c.11C>A S4X disease-causing
Exon 1 c.2T>A M1K disease-causing
Exon 1 c.40A>T K14X disease-causing
Exon 1 c.31G>A 163G/A unclassified
Intron 1 c.54-4235_164+377dup4723 disease-causing
Intron 1 c.54-13C>G 186-13C>G unclassified
Exon 2 c.100_117del 232del18 disease-causing
Exon 2 c.154A>T K52X disease-causing
Exon 2 c.122C>G P41R unclassified
Exon 2 c.79G>C G27R(211G to C) unclassified
Intron 2 c.165-2A>C disease-causing
Exon 2 c.148T>C S50P disease-causing
Exon 2 c.106G>A D36N unclassified
Exon 2 c.164G>A R55K unclassified
Exon 2 c.95T>C L32P unclassified
Intron 2 c.164+1G>C 296+1G>C disease-causing
Intron 2 c.164+28A>G 296+ 28A- >G unclassified
Exon 2 c.137C>A A46D disease-causing
Exon 2 c.79G>T G27X disease-causing
Exon 2 c.157T>G L53V unclassified
Exon 2 c.91C>T R31C ; 223C/T unclassified
Intron 2 c.[165-291_1585-8528delins39;2619+2288_2989-839delins16] CFTRdele3-10,14b-16 disease-causing
Exon 2 c.131A>G D44G disease-causing
Exon 2 c.57G>A W19X disease-causing
Exon 2 c.125C>T S42F unclassified
Exon 2 c.80G>A G27E unclassified
Intron 2 c.165-3C>T 297-3C>T disease-causing
Exon 3 c.222_223delinsA disease-causing
Exon 3 c.236G>A W79X disease-causing
Exon 3 c.263T>G L88X disease-causing
Exon 3 c.215C>A A72D unclassified
Exon 3 c.235T>C W79R unclassified
Exon 3 c.259T>C F87L unclassified
Exon 3 c.224G>A R75Q non disease-causing
Exon 3 c.170G>A W57X(TAG) disease-causing
Exon 3 c.178G>A E60K disease-causing
Intron 3 c.273+46T>G 405+46G/T non disease-causing
Intron 3 c.274-1G>T 406-1G>T disease-causing
Intron 3 c.273+4A>G 405+ 4A- >G unclassified
Exon 3 c.220C>T R74W disease-causing
Exon 3 c.233dup 359insT ; 360-365insT ; 365-366insT (W79fs) disease-causing
Exon 3 c.262_263del 394delTT disease-causing
Exon 3 c.202A>G K68E unclassified
Exon 3 c.228T>G C76W unclassified
Exon 3 c.258C>G I86M unclassified
Exon 3 c.169T>G W57G disease-causing
Exon 3 c.175dup 306insA disease-causing
Intron 3 c.274-1G>C 406-1G>C disease-causing
Intron 3 c.273+27A>G unclassified
Exon 3 c.200C>T P67L disease-causing
Exon 3 c.233del 360delT disease-causing
Exon 3 c.254G>T G85V disease-causing
Exon 3 c.173A>G D58G unclassified
Exon 3 c.224G>T R75L unclassified
Exon 3 c.250T>C Y84H unclassified
Exon 3 c.168del 300delA disease-causing
Exon 3 c.174_177del 306delTAGA disease-causing
Intron 3 c.273+1G>A 405+1G>A disease-causing
Intron 3 c.274-3397_489+710del dele4 disease-causing
Exon 3 c.178G>T E60X disease-causing
Exon 3 c.223C>T R75X disease-causing
Exon 3 c.254G>A G85E disease-causing
Exon 3 c.271G>A G91R disease-causing
Exon 3 c.221G>A R74Q unclassified
Exon 3 c.244A>G M82V unclassified
Exon 3 c.166G>A E56K disease-causing
Exon 3 c.171G>A W57X(TGA) disease-causing
Intron 3 c.(273+1_274-1)_(1584+1_1585-1)dup disease-causing
Intron 3 c.274-2A>G 406- 2A- >G disease-causing
Intron 3 c.274-6T>C 406-6T>C unclassified
Exon 4 c.314T>A I105N unclassified
Exon 4 c.357C>T unclassified
Exon 4 c.410T>G L137R unclassified
Exon 4 c.296C>G P99R disease-causing
Exon 4 c.325_327delinsG 457TAT>G disease-causing
Exon 4 c.332C>T P111L disease-causing
Exon 4 c.350G>A R117H disease-causing
Exon 4 c.437A>G H146R unclassified
Exon 4 c.409_412del 541del4 disease-causing
Exon 4 c.472A>G S158G unclassified
Exon 4 c.445G>A G149R disease-causing
Exon 4 c.481T>A Y161N unclassified
Exon 4 c.287C>A A96E unclassified
Intron 4 c.489+2T>G 621+2T>G disease-causing
Intron 4 c.489+76T>C unclassified
Exon 4 c.305T>C L102P unclassified
Exon 4 c.357C>G I119M unclassified
Exon 4 c.365A>G Y122C unclassified
Exon 4 c.293A>G Q98R disease-causing
Exon 4 c.323C>T S108F disease-causing
Exon 4 c.330C>A D110E disease-causing
Exon 4 c.349C>T R117C disease-causing
Exon 4 c.422C>A A141D unclassified
Exon 4 c.377G>A G126D disease-causing
Exon 4 c.472A>C S158R unclassified
Exon 4 c.442del 574delA disease-causing
Exon 4 c.476T>C L159S unclassified
Exon 4 c.283A>G K95E unclassified
Intron 4 c.489+2T>C 621+2T>C disease-causing
Intron 4 c.489+33T>C unclassified
Exon 4 c.355A>G I119V unclassified
Exon 4 c.360G>A A120A (492G/A) unclassified
Exon 4 c.274G>A E92K disease-causing
Exon 4 c.308del disease-causing
Exon 4 c.328G>C D110H disease-causing
Exon 4 c.349C>G R117G disease-causing
Exon 4 c.366T>A Y122X disease-causing
Exon 4 c.454A>T M152L unclassified
Exon 4 c.433C>G L145V disease-causing
Exon 4 c.473G>C S158T unclassified
Exon 4 c.278T>G V93G unclassified
Exon 4 c.302T>C L101S unclassified
Intron 4 c.489+1G>T 621+1G>T disease-causing
Intron 4 c.490-3T>G disease-causing
Intron 4 c.490-23_490-4del unclassified
Exon 4 c.350G>C R117P unclassified
Exon 4 c.358G>A A120T unclassified
Exon 4 c.415C>T H139Y unclassified
Exon 4 c.443T>C I148T non disease-causing
Exon 4 c.296C>T P99L disease-causing
Exon 4 c.327T>A Y109X disease-causing
Exon 4 c.346G>A E116K disease-causing
Exon 4 c.350G>T R117L disease-causing
Exon 4 c.451C>A Q151K unclassified
Exon 4 c.410_416del disease-causing
Exon 4 c.473G>A S158N unclassified
Exon 4 c.454A>G M152V disease-causing
Exon 4 c.487A>C K163Q unclassified
Exon 4 c.298C>G L100V unclassified
Intron 4 c.489+3A>G 621+3A>G disease-causing
Intron 4 c.490-165T>C unclassified
Exon 5 c.571T>G F191V disease-causing
Exon 5 c.508C>T R170C unclassified
Exon 5 c.547C>A L183I unclassified
Exon 5 c.523A>G I175V disease-causing
Intron 5 c.579+3A>G 711+3A>G disease-causing
Exon 5 c.543_546del 675del4 disease-causing
Exon 5 c.500T>G L167R unclassified
Exon 5 c.544A>C S182R unclassified
Exon 5 c.509G>A R170H disease-causing
Intron 5 c.579+1G>T 711+1G>T disease-causing
Intron 5 c.580-92T>A 712-92T/A unclassified
Exon 5 c.532G>A G178R disease-causing
Exon 5 c.490A>C T164P unclassified
Exon 5 c.535C>A Q179K unclassified
Exon 5 c.574G>A D192N unclassified
Exon 5 c.494T>C L165S disease-causing
Intron 5 c.580-62T>G unclassified
Exon 5 c.577G>T E193X disease-causing
Exon 5 c.527G>T S176I unclassified
Exon 5 c.558C>A N186K unclassified
Exon 5 c.531dup disease-causing
Intron 5 c.580-1G>T 712-1G>T disease-causing
Exon 6 c.586dup disease-causing
Exon 6 c.601del 733delG disease-causing
Exon 6 c.617T>G L206W disease-causing
Exon 6 c.671del disease-causing
Exon 6 c.723_743+1del 852del22 disease-causing
Exon 6 c.627A>G A209A (759A/G) unclassified
Exon 6 c.710A>T Q237L unclassified
Intron 6 c.743+40A>G 875+40A/G non disease-causing
Intron 6 c.744-10_744-3del 876-10del8 unclassified
Exon 6 c.581G>T G194V disease-causing
Exon 6 c.598T>A F200I disease-causing
Exon 6 c.613_870-1547del disease-causing
Exon 6 c.658C>T Q220X disease-causing
Exon 6 c.709C>G Q237E disease-causing
Exon 6 c.618G>T L206F unclassified
Exon 6 c.701C>A A234D unclassified
Exon 6 c.731T>A M244K unclassified
Intron 6 c.744-33GATT[8] TTGA repeats non disease-causing
Exon 6 c.596A>G H199R disease-causing
Exon 6 c.613C>T P205S disease-causing
Exon 6 c.647G>A W216X disease-causing
Exon 6 c.695T>A V232D disease-causing
Exon 6 c.617T>C L206S unclassified
Exon 6 c.674G>A C225Y unclassified
Exon 6 c.721G>T G241W unclassified
Intron 6 c.744-33GATT[7] TTGA repeats non disease-causing
Intron 6 c.744-33GATT[4] unclassified
Exon 6 c.595C>T H199Y disease-causing
Exon 6 c.601G>A V201M disease-causing
Exon 6 c.619C>T Q207X disease-causing
Exon 6 c.680T>G L227R disease-causing
Exon 6 c.609C>G I203M unclassified
Exon 6 c.650A>G E217G unclassified
Exon 6 c.715G>A G239R unclassified
Intron 6 c.744-33GATT[6] TTGA repeats non disease-causing
Intron 6 c.744-14_744-3del 876-14del12 unclassified
Exon 7 c.859A>T N287Y unclassified
Exon 7 c.755delinsGCTGGGAAGAT disease-causing
Exon 7 c.808C>T Q270X disease-causing
Exon 7 c.745G>T D249Y unclassified
Intron 7 c.869+5G>T unclassified
Intron 7 c.870-1125A>G unclassified
Intron 7 c.(869+1_870-1)_(1584+1_1585-1)del disease-causing
Exon 7 c.773del 905delG disease-causing
Exon 7 c.868C>T Q290X disease-causing
Exon 7 c.846A>T E282D unclassified
Intron 7 c.870-12T>A disease-causing
Intron 7 c.870-1101T>C unclassified
Intron 7 c.869+11C>T 1001+11C/T non disease-causing
Exon 7 c.772A>G R258G disease-causing
Exon 7 c.861_865del 991del5 disease-causing
Exon 7 c.837A>T E279D unclassified
Intron 7 c.870-1095A>G unclassified
Intron 7 c.870-1113_870-1110del disease-causing
Exon 7 c.769G>T E257X disease-causing
Exon 7 c.825C>G Y275X disease-causing
Exon 7 c.774A>C R258S unclassified
Intron 7 c.869+88T>A unclassified
Intron 7 c.869+5G>A disease-causing
Exon 8 c.1007T>A I336K disease-causing
Exon 8 c.1040G>A R347H disease-causing
Exon 8 c.1055G>A R352Q disease-causing
Exon 8 c.1081T>C W361R(T>C) disease-causing
Exon 8 c.874G>T E292X disease-causing
Exon 8 c.948del 1078delT disease-causing
Exon 8 c.1039C>T R347C unclassified
Exon 8 c.1054C>G R352G unclassified
Exon 8 c.1116G>A unclassified
Exon 8 c.902A>G Y301C unclassified
Exon 8 c.941G>T G314V unclassified
Exon 8 c.980T>G L327R unclassified
Exon 8 c.1001G>T R334L disease-causing
Exon 8 c.1029del 1161delC disease-causing
Exon 8 c.1054C>T R352W disease-causing
Exon 8 c.1081del 1213delT disease-causing
Exon 8 c.1093_1094del 1221delCT disease-causing
Exon 8 c.935_937del ΔF311 disease-causing
Exon 8 c.1002del I336delG unclassified
Exon 8 c.1052C>G T351S unclassified
Exon 8 c.1070C>T A357V unclassified
Exon 8 c.899C>A A300D unclassified
Exon 8 c.941G>C G314A unclassified
Exon 8 c.979C>G L327V unclassified
Intron 8 c.1116+4_1116+10delinsTATACATAGTAT unclassified
Exon 8 c.1001G>A R334Q disease-causing
Exon 8 c.1013C>T T338I disease-causing
Exon 8 c.1040G>T R347L disease-causing
Exon 8 c.1076A>G Q359R disease-causing
Exon 8 c.1090T>C S364P disease-causing
Exon 8 c.933C>G F311L disease-causing
Exon 8 c.959T>A L320X disease-causing
Exon 8 c.1046C>T A349V unclassified
Exon 8 c.1069G>A A357T unclassified
Exon 8 c.890G>A R297Q unclassified
Exon 8 c.926C>G A309G unclassified
Exon 8 c.964G>A V322M (1096(G/A)) unclassified
Intron 8 c.1117-5A>G 1249-5A>G disease-causing
Exon 8 c.1000C>T R334W disease-causing
Exon 8 c.1008_1019dup 1151ins12 disease-causing
Exon 8 c.1040G>C R347P disease-causing
Exon 8 c.1057C>T Q353X disease-causing
Exon 8 c.1083del 1215delG disease-causing
Exon 8 c.912C>G Y304X disease-causing
Exon 8 c.959del disease-causing
Exon 8 c.1043T>A M348K unclassified
Exon 8 c.1064C>T P355L unclassified
Exon 8 c.874G>A E292K unclassified
Exon 8 c.920G>A S307N unclassified
Exon 8 c.958T>G L320V unclassified
Intron 8 c.1116+1G>A 1248+1G>A disease-causing
Exon 9 c.1118A>G D373G unclassified
Exon 9 c.1163C>T T388M unclassified
Exon 9 c.1202G>A W401X(TAG) disease-causing
Intron 9 c.1210-12T[7] poly-T tract variations non disease-causing
Intron 9 c.1210-34TG[12] 1342-12(GT)n non disease-causing
Intron 9 c.1210-34_1210-6TG[10]T[9] TG10T9 non disease-causing
Intron 9 c.1210-34_1210-6TG[12]T[9] TG12T9 non disease-causing
Intron 9 c.1209+2T>G disease-causing
Intron 9 c.1210-34_1210-6TG[13]T[5] TG13T5 disease-causing
Intron 9 c.1210-34_1210-6TG[11]T[5] TG11T5 unclassified
Intron 9 c.1210-34_1210-6TG[9]T[11] TG9T11 unclassified
Exon 9 c.1209G>C E403D disease-causing
Exon 9 c.1139A>G Y380C unclassified
Exon 9 c.1175T>G V392G disease-causing
Intron 9 c.1210-34TG[11] 1342-12(GT)n non disease-causing
Intron 9 c.1210-34_1210-6TG[10]T[7] TG10T7 non disease-causing
Intron 9 c.1210-34_1210-6TG[12]T[7] TG12T7 non disease-causing
Intron 9 c.1209+1G>A 1341+1G>A disease-causing
Intron 9 c.1210-34_1210-6TG[12]T[5] TG12T5 disease-causing
Intron 9 c.1210-34_1210-6TG[10]T[8] TG10T8 unclassified
Intron 9 c.1210-34_1210-6TG[15]T[7] TG15T7 unclassified
Exon 9 c.1209G>A E403E (1341G/A) disease-causing
Exon 9 c.1135G>A E379K unclassified
Exon 9 c.1162_1168del 1294del7 disease-causing
Intron 9 c.1210-34TG[10] 1342-12(GT)n non disease-causing
Intron 9 c.1210-34TG[9] non disease-causing
Intron 9 c.1210-34_1210-6TG[11]T[9] TG11T9 non disease-causing
Intron 9 c.1210-34_1210-6TG[9]T[9] TG9T9 non disease-causing
Intron 9 c.1210-34_1210-6TG[12]T[3] TG12T3 disease-causing
Intron 9 c.1209+28C>T unclassified
Intron 9 c.1210-34_1210-6TG[13]T[6] TG13T6 unclassified
Exon 9 c.1125A>C L375F unclassified
Exon 9 c.1177G>C V393L unclassified
Exon 9 c.1130dup disease-causing
Exon 9 c.1203G>A W401X(TGA) disease-causing
Intron 9 c.1210-12T[9] poly-T tract variations ; 1342-13G/T non disease-causing
Intron 9 c.1210-34TG[13] 1342-11TTT>G non disease-causing
Intron 9 c.1210-34_1210-6TG[11]T[7] TG11T7 non disease-causing
Intron 9 c.1210-34_1210-6TG[13]T[7] TG13T7 non disease-causing
Intron 9 c.1210-12T[5] poly-T tract variations disease-causing
Intron 9 c.1209+18A>C 1341+18A>C unclassified
Intron 9 c.1210-34_1210-6TG[12]T[6] TG12T6 unclassified
Intron 9 c.1210-6T>A unclassified
Exon 10 c.1248dup N417X disease-causing
Exon 10 c.1367T>C V456A disease-causing
Exon 10 c.1331T>C I444T unclassified
Exon 10 c.1373G>T G458V unclassified
Intron 10 c.1392+1del disease-causing
Exon 10 c.1240C>T Q414X disease-causing
Exon 10 c.1364C>A A455E disease-causing
Exon 10 c.1315C>T P439S unclassified
Exon 10 c.1364C>T A455V unclassified
Intron 10 c.1393-61A>G 1525-61A/G non disease-causing
Intron 10 c.1393-3C>A unclassified
Exon 10 c.1235del 1367delC disease-causing
Exon 10 c.1330_1331del 1460delAT disease-causing
Exon 10 c.1270G>A G424S unclassified
Exon 10 c.1360_1368del 1491_1500del unclassified
Intron 10 c.1392+52T[10] non disease-causing
Intron 10 c.1393-2A>G 1525-2A>G disease-causing
Exon 10 c.1327G>T D443Y disease-causing
Exon 10 c.1392G>T K464N disease-causing
Exon 10 c.1355A>C Q452P unclassified
Exon 10 c.1390A>C K464Q unclassified
Intron 10 c.1393-1G>A 1525-1G->A disease-causing
Exon 11 c.1499G>T G500V unclassified
Exon 11 c.1555A>G S519G unclassified
Exon 11 c.1580A>G E527G unclassified
Exon 11 c.1397C>G S466X(TAG) disease-causing
Exon 11 c.1466C>A S489X disease-causing
Exon 11 c.1477_1478del 1609delCA disease-causing
Exon 11 c.1521_1523del ΔF508 disease-causing
Exon 11 c.1558G>T V520F disease-causing
Exon 11 c.1399C>T 1531C/T (L467F) unclassified
Exon 11 c.1453A>T S485C unclassified
Intron 11 c.1585-84A>C unclassified
Intron 11 c.1585-9449C>A unclassified
Intron 11 c.1585-9218G>A non disease-causing
Intron 11 c.1585-1G>A 1717-1G>A disease-causing
Intron 11 c.1584+12T>C 1716+12T/C unclassified
Exon 11 c.1495C>T P499S unclassified
Exon 11 c.1518C>G 1650C/G unclassified
Exon 11 c.1568C>A A523E unclassified
Exon 11 c.1584G>A E528E (1716G/A) non disease-causing
Exon 11 c.1420G>A E474K disease-causing
Exon 11 c.1477C>T Q493X disease-causing
Exon 11 c.1519_1521del ΔI507 disease-causing
Exon 11 c.1545_1546del 1677delTA disease-causing
Exon 11 c.1397C>T S466L unclassified
Exon 11 c.1439G>A G480D unclassified
Intron 11 c.1585-3T>C unclassified
Intron 11 c.1585-9418T>C unclassified
Intron 11 c.1584+2T>C 1716+2T>C disease-causing
Intron 11 c.[1585-11881_2490+101dup;2490+87_2490+88insTCAAAATTTACTAAA] CFTRdup11_13 disease-causing
Exon 11 c.1516A>G I506V (1648A/G) unclassified
Exon 11 c.1562T>G I521S unclassified
Exon 11 c.1583A>C E528A unclassified
Exon 11 c.1408A>G M470V non disease-causing
Exon 11 c.1418del 1548delG disease-causing
Exon 11 c.1475C>T S492F disease-causing
Exon 11 c.1517T>C I506T disease-causing
Exon 11 c.1538A>G D513G disease-causing
Exon 11 c.1579_1584+11del 1706del17 disease-causing
Exon 11 c.1438G>A G480S unclassified
Exon 11 c.1494G>C M498I unclassified
Intron 11 c.1584+77A>G 1716+ 77A/G unclassified
Intron 11 c.1585-9395C>G unclassified
Intron 11 c.1584+1G>A 1716+1G->A disease-causing
Intron 11 c.1585-9412A>G disease-causing
Exon 11 c.1516A>C I506L unclassified
Exon 11 c.1558G>A V520I unclassified
Exon 11 c.1581A>G E527E (1713A/G) unclassified
Exon 11 c.1405A>G M469V disease-causing
Exon 11 c.1471T>C C491R disease-causing
Exon 11 c.1501A>G T501A disease-causing
Exon 11 c.1523T>G F508C disease-causing
Exon 11 c.1573C>T Q525X disease-causing
Exon 11 c.1429C>T P477S unclassified
Exon 11 c.1466C>T S489L unclassified
Intron 11 c.1584+64T>C unclassified
Intron 11 c.1585-9212G>A unclassified
Intron 11 c.(1584+1_1585-1)_(1766+1_1767-1)del disease-causing
Intron 11 c.1585-8G>A 1717-8G>A disease-causing
Exon 12 c.1624G>T G542X disease-causing
Exon 12 c.1647T>G S549R(T>G) disease-causing
Exon 12 c.1657C>T R553X disease-causing
Exon 12 c.1674del 1806delA disease-causing
Exon 12 c.1603G>A E535K unclassified
Exon 12 c.1657C>G R553G unclassified
Intron 12 c.1680-1G>A 1812-1G>A disease-causing
Intron 12 c.1680-871A>G unclassified
Exon 12 c.1616_1617dup 1749insTA disease-causing
Exon 12 c.1646G>A S549N disease-causing
Exon 12 c.1654C>T Q552X disease-causing
Exon 12 c.1673T>C L558S disease-causing
Exon 12 c.1601C>A A534E unclassified
Exon 12 c.1655A>C Q552P unclassified
Intron 12 c.1679+1G>C 1811+1G>C disease-causing
Intron 12 c.1679+694_2490+281dup unclassified
Intron 12 c.1680-99T>C 1812- 99 T- >C unclassified
Exon 12 c.1645A>C S549R(A>C) disease-causing
Exon 12 c.1652G>A G551D disease-causing
Exon 12 c.1670del 1802delC disease-causing
Exon 12 c.1679G>A R560K disease-causing
Exon 12 c.1631G>T G544V unclassified
Intron 12 c.1680-870T>A 1811+1650T>A non disease-causing
Intron 12 c.1680-886A>G 1811+1.6kbA>G disease-causing
Intron 12 c.1680-981T>C unclassified
Exon 12 c.1642_1643del 1774delCT disease-causing
Exon 12 c.1650del 1782delA disease-causing
Exon 12 c.1666A>G I556V disease-causing
Exon 12 c.1675G>A A559T disease-causing
Exon 12 c.1630G>A G544S unclassified
Intron 12 c.1680-717A>G non disease-causing
Intron 12 c.1680-883A>G disease-causing
Intron 12 c.1680-871_1680-870delATinsGA unclassified
Intron 13 c.1766+1G>A 1898+1G>A disease-causing
Intron 13 c.1766+5G>A 1898+5G>A disease-causing
Intron 13 c.1767-58G>C unclassified
Exon 13 c.1759T>A F587I unclassified
Intron 13 c.1766+152T>A 1898+152T/A non disease-causing
Exon 13 c.1703del 1833delT disease-causing
Exon 13 c.1721C>A P574H disease-causing
Exon 13 c.1745C>T T582I disease-causing
Exon 13 c.1690A>G K564E unclassified
Exon 13 c.1706A>G Y569C unclassified
Intron 13 c.1766+3A>G 1898+3A>G disease-causing
Intron 13 c.1767-12T>G unclassified
Exon 13 c.1723T>G F575V unclassified
Exon 13 c.1687T>A Y563N disease-causing
Exon 13 c.1707T>A Y569X disease-causing
Exon 13 c.1736A>G D579G disease-causing
Exon 13 c.1684G>C V562L unclassified
Exon 13 c.1704G>T L568F unclassified
Intron 13 c.1766+3A>C 1898+3A>C disease-causing
Intron 13 c.1766+73T>G 1898+73T>G unclassified
Exon 13 c.1721C>G P574R unclassified
Exon 13 c.1682C>A A561E disease-causing
Exon 13 c.1705T>G Y569D disease-causing
Exon 13 c.1727G>C G576A disease-causing
Exon 13 c.1684G>A V562I unclassified
Exon 13 c.1696G>A A566T unclassified
Intron 13 c.1766+1G>C 1898+1G>C disease-causing
Intron 13 c.1766+5G>T 1898+5G>T disease-causing
Exon 13 c.1720C>T P574S unclassified
Exon 13 c.1762G>A E588K unclassified
Exon 13 c.1680A>C R560S disease-causing
Exon 13 c.1705T>C Y569H disease-causing
Exon 13 c.1724T>A F575Y disease-causing
Exon 13 c.1753G>T E585X disease-causing
Exon 13 c.1695T>G D565E unclassified
Exon 14 c.2483A>G D828G unclassified
Exon 14 c.2488A>T K830X disease-causing
Exon 14 c.1784T>C M595T unclassified
Exon 14 c.1792_1798del 1924del7 disease-causing
Exon 14 c.1802T>C I601T unclassified
Exon 14 c.1826A>G H609R disease-causing
Exon 14 c.1897C>T L633F unclassified
Exon 14 c.1900C>T Q634X disease-causing
Exon 14 c.2057C>A S686Y unclassified
Exon 14 c.1981del 2113delA disease-causing
Exon 14 c.2168G>T G723V unclassified
Exon 14 c.2012del 2143delT disease-causing
Exon 14 c.2259C>T S753S (2391C/T) unclassified
Exon 14 c.2051_2052delinsG 2183AA>G disease-causing
Exon 14 c.2378A>T K793I unclassified
Exon 14 c.2089dup 2221insA disease-causing
Exon 14 c.2175dup 2307insA disease-causing
Exon 14 c.2241_2248del 2372del8 disease-causing
Exon 14 c.2291del 2423delG disease-causing
Exon 14 c.2353C>T R785X disease-causing
Exon 14 c.2443del disease-causing
Intron 14 c.2491-51T>C 2623-51T>C unclassified
Exon 14 c.2476G>A E826K unclassified
Exon 14 c.2479G>T E827X disease-causing
Exon 14 c.1783A>G M595V unclassified
Exon 14 c.1792A>T K598X disease-causing
Exon 14 c.1800G>T R600S unclassified
Exon 14 c.1820_1903del 1949del84 disease-causing
Exon 14 c.1853T>G I618S unclassified
Exon 14 c.1882G>A G628R(G->A) disease-causing
Exon 14 c.1990G>C E664Q unclassified
Exon 14 c.1966G>T E656X disease-causing
Exon 14 c.2145A>C Q715H unclassified
Exon 14 c.2002C>T R668C disease-causing
Exon 14 c.2245C>T L749L (2377C/T) unclassified
Exon 14 c.2051_2052del 2183delAA disease-causing
Exon 14 c.2335C>A Q779K unclassified
Exon 14 c.2065C>T Q689X disease-causing
Exon 14 c.2145_2146delinsGT K716X disease-causing
Exon 14 c.2233G>T G745X(Gly745X) disease-causing
Exon 14 c.2290C>T R764X disease-causing
Exon 14 c.2327C>G S776X disease-causing
Exon 14 c.2421A>G I807M ; 2553A/G disease-causing
Intron 14 c.2490+2T>C 2622+2T>C unclassified
Exon 14 c.2428A>G R810G unclassified
Exon 14 c.1781T>C L594P unclassified
Exon 14 c.2260G>A V754M non disease-causing
Exon 14 c.1798A>G R600G unclassified
Exon 14 c.1811C>T T604I disease-causing
Exon 14 c.1853T>A I618N unclassified
Exon 14 c.1865G>A G622D disease-causing
Exon 14 c.1970G>A R657K unclassified
Exon 14 c.1911del 2043delG disease-causing
Exon 14 c.2096A>G N699S unclassified
Exon 14 c.1990G>T E664X disease-causing
Exon 14 c.2210C>T S737F unclassified
Exon 14 c.2045del disease-causing
Exon 14 c.2297G>A R766K unclassified
Exon 14 c.2052dup 2184insA disease-causing
Exon 14 c.2128A>T K710X disease-causing
Exon 14 c.2215del 2347delG disease-causing
Exon 14 c.2249_2256del 2380_2387del disease-causing
Exon 14 c.2324_2325del 2456delAC disease-causing
Exon 14 c.2374C>T R792X disease-causing
Exon 14 c.2464G>T E822X disease-causing
Intron 14 c.2490+1G>A 2622+1G>A disease-causing
Exon 14 c.2417A>G D806G unclassified
Exon 14 c.1769G>A C590Y unclassified
Exon 14 c.1792A>G K598E unclassified
Exon 14 c.1801A>T I601F disease-causing
Exon 14 c.1826A>T H609L unclassified
Exon 14 c.1841A>G D614G disease-causing
Exon 14 c.1920T>C F640F (2052T/C) unclassified
Exon 14 c.1904del disease-causing
Exon 14 c.2074G>C E692Q unclassified
Exon 14 c.1986_1989del 2118del4 ; 2116delCTAA disease-causing
Exon 14 c.2173G>A E725K unclassified
Exon 14 c.2017G>T G673X disease-causing
Exon 14 c.2295G>T R765S unclassified
Exon 14 c.2052del 2184delA disease-causing
Exon 14 c.2395C>A Q799K unclassified
Exon 14 c.2125C>T R709X disease-causing
Exon 14 c.2195T>G L732X disease-causing
Exon 14 c.2249C>T P750L disease-causing
Exon 14 c.2299C>T Q767X disease-causing
Exon 14 c.2373del disease-causing
Exon 14 c.2450del disease-causing
Exon 15 c.2596T>C C866R unclassified
Intron 15 c.2619+86_2619+87del non disease-causing
Intron 15 c.2619+1355_2908+243del disease-causing
Exon 15 c.2502del 2634delT disease-causing
Intron 15 c.2619+3A>G 2751+3A>G unclassified
Exon 15 c.2538G>A W846X (2670TGG>TGA) disease-causing
Exon 15 c.2601dup 2732insA disease-causing
Exon 15 c.2552G>T R851L unclassified
Exon 15 c.2604A>G V868V (2736G/A) unclassified
Intron 15 c.(2619+1_2620-1)_(3367+1_3368-1)del disease-causing
Exon 15 c.2496C>A C832X disease-causing
Intron 15 c.2619+20_2619+24del IVS14a+17del5 unclassified
Exon 15 c.2537G>A W846X disease-causing
Exon 15 c.2589_2599del 2721del11 disease-causing
Exon 15 c.2522C>G P841R unclassified
Exon 15 c.2563G>A V855I unclassified
Exon 15 c.2598C>G C866W unclassified
Intron 15 c.2620-6T>C 2752-6T->C non disease-causing
Exon 15 c.2491G>T E831X disease-causing
Intron 15 c.2619+106T>A unclassified
Exon 15 c.2508del 2640delT disease-causing
Intron 15 c.2620-17G>T unclassified
Exon 15 c.2583del 2711delT disease-causing
Exon 15 c.2506G>T D836Y unclassified
Exon 15 c.2562T>C T854T (2694T/C) unclassified
Exon 15 c.2597G>A C866Y unclassified
Intron 15 c.2620-26A>G 2752-26A>G non disease-causing
Exon 15 c.2562T>G T854T (2694T/G) non disease-causing
Intron 15 c.2620-674_3367+198del 2752-674_3499+198del9855 disease-causing
Exon 15 c.2502dup 2634insT disease-causing
Intron 15 c.2620-15C>G 2752-15C/G unclassified
Exon 15 c.2551C>T R851X disease-causing
Exon 15 c.2502T>G F834L unclassified
Exon 15 c.2559T>C I853I (2691T/C) unclassified
Exon 16 c.2637_2644del disease-causing
Intron 16 c.2657+5G>A 2789+5G>A disease-causing
Intron 16 c.2658-13A>G unclassified
Intron 16 c.2657+2_2657+3insA 2789+2insA disease-causing
Intron 16 c.2657+66C>T unclassified
Intron 16 c.2658-77T>A unclassified
Exon 16 c.2645G>A W882X disease-causing
Intron 16 c.2658-1G>T 2790-1G>T disease-causing
Intron 16 c.2658-2A>G 2790-2A>G unclassified
Exon 16 c.2639_2640dup disease-causing
Intron 16 c.2658-1G>C 2790-1G>C disease-causing
Intron 16 c.2658-21G>A 2790-21G/A unclassified
Intron 17 c.2909-15T>G 3041-15T>G disease-causing
Intron 17 c.2909-15T>C unclassified
Exon 17 c.2668C>T Q890X disease-causing
Exon 17 c.2737_2738insG 2869insG disease-causing
Exon 17 c.2780T>C L927P disease-causing
Exon 17 c.2813T>G V938G disease-causing
Exon 17 c.2875del 3007delG disease-causing
Exon 17 c.2695A>G R899G unclassified
Exon 17 c.2735C>T S912L unclassified
Exon 17 c.2758G>A V920M unclassified
Exon 17 c.2846A>G H949R unclassified
Exon 17 c.2900T>C L967S unclassified
Intron 17 c.2909-71G>C 3041-71G/C non disease-causing
Intron 17 c.2908+1G>A disease-causing
Intron 17 c.2908+4C>A unclassified
Exon 17 c.2898G>A T966T (3030G/A) non disease-causing
Exon 17 c.2735C>A S912X disease-causing
Exon 17 c.2763_2764dup 2896insAG disease-causing
Exon 17 c.2810dup 2942insT disease-causing
Exon 17 c.2856G>C M952I disease-causing
Exon 17 c.2672A>G D891G unclassified
Exon 17 c.2735C>G S912W unclassified
Exon 17 c.2756A>G Y919C unclassified
Exon 17 c.2770G>C D924H unclassified
Exon 17 c.2855T>C M952T unclassified
Intron 17 c.2908+1086_3367+260del CFTR-dele16-17a-17b disease-causing
Intron 17 c.2908+19G>A unclassified
Exon 17 c.2723C>A T908N disease-causing
Exon 17 c.2743_2745delinsA disease-causing
Exon 17 c.2805_2810delinsTCAGA disease-causing
Exon 17 c.2834C>T S945L disease-causing
Exon 17 c.2669A>G Q890R unclassified
Exon 17 c.2719A>G 2851A/G unclassified
Exon 17 c.2754T>G I918M unclassified
Exon 17 c.2770G>A D924N unclassified
Exon 17 c.2851A>G K951E unclassified
Intron 17 c.2909-636_3367+1194delins32 CFTRdele16-17b disease-causing
Intron 17 c.2909-36T>G unclassified
Exon 17 c.2706C>G S902R disease-causing
Exon 17 c.2739T>A Y913X disease-causing
Exon 17 c.2797A>G R933G disease-causing
Exon 17 c.2816A>G H939R disease-causing
Exon 17 c.2908G>C G970R disease-causing
Exon 17 c.2699A>C N900T unclassified
Exon 17 c.2743G>C V915L unclassified
Exon 17 c.2758G>T V920L unclassified
Exon 17 c.2846A>T H949L unclassified
Intron 17 c.2909-92G>A 3041-92G/A non disease-causing
Exon 18 c.2940A>G I980M unclassified
Exon 18 c.2957T>C L986P unclassified
Intron 18 c.(2988-1_2989-1)_(3367+1_3368-1)del Del exon 17a-17b disease-causing
Intron 18 c.2989-1698_3469-4461del disease-causing
Intron 18 c.2989-449_3468+644del disease-causing
Intron 18 c.2989-35G>A unclassified
Exon 18 c.2924_2925del 3056delGA disease-causing
Exon 18 c.2977G>T D993Y disease-causing
Exon 18 c.2936A>C D979A unclassified
Exon 18 c.2953G>T D985Y unclassified
Intron 18 c.(2988+1_2989-1)_(3468+1_3469-1)del Del exon 17a-17b-18 disease-causing
Exon 18 c.2981T>G F994C unclassified
Intron 18 c.2988+1G>A 3120+1G>A disease-causing
Intron 18 c.2989-313A>T disease-causing
Intron 18 c.2989-357C>T unclassified
Intron 18 c.2989-69C>G unclassified
Exon 18 c.2919_2920ins121 disease-causing
Exon 18 c.2939T>A I980K disease-causing
Exon 18 c.2916_2917delinsAT unclassified
Exon 18 c.2953G>C D985H unclassified
Intron 18 c.2989-93A[12] 3121-92A12/13 non disease-causing
Exon 18 c.2978A>G D993G unclassified
Intron 18 c.2988+1616_3367+356delins62 Del exon 17a-17b disease-causing
Intron 18 c.2989-2A>G 3121-2A>G disease-causing
Intron 18 c.2989-977_3367+248del 3121-977_3499+248del2515 ; del 17a-17b disease-causing
Intron 18 c.2989-422G>T unclassified
Exon 18 c.2909G>T G970V disease-causing
Exon 18 c.2936A>T D979V disease-causing
Exon 18 c.2946T>G I982M unclassified
Exon 18 c.2973A>G I991M unclassified
Intron 18 c.2988+1173_3468+2111del Del exon 17a-17b-18 disease-causing
Intron 18 c.2989-1G>A 3121-1G>A disease-causing
Intron 18 c.2989-908_3085delinsGACAG disease-causing
Intron 18 c.2989-3C>G 3121-3C>G unclassified
Exon 18 c.2909G>A G970D disease-causing
Exon 18 c.2930C>T S977F disease-causing
Exon 18 c.2988G>A Q996Q (3120G/A) disease-causing
Exon 19 c.2991G>C L997F disease-causing
Exon 19 c.3022del 3154delG disease-causing
Exon 19 c.3095A>G Y1032C disease-causing
Exon 19 c.3038C>T P1013L unclassified
Intron 19 c.3139+18C>T 3271+18C/T non disease-causing
Exon 19 c.3083T>G M1028R unclassified
Intron 19 c.3140-26A>G 3272-26A>G disease-causing
Intron 19 c.3139+89T>C unclassified
Exon 19 c.3017C>A A1006E disease-causing
Exon 19 c.3068_3072del 3200_3204delTAGTG disease-causing
Exon 19 c.3038C>A P1013H unclassified
Exon 19 c.3080T>C I1027T unclassified
Intron 19 c.3139+1G>A 3271+1G>A disease-causing
Intron 19 c.3139+187dup unclassified
Exon 19 c.3011del disease-causing
Exon 19 c.3067_3072del 3199del6 ; 3195del6 disease-causing
Exon 19 c.3014T>G I1005R unclassified
Exon 19 c.3059T>A V1020E unclassified
Intron 19 c.3140-92T>C 3272-93T/C non disease-causing
Intron 19 c.3139+16T>A unclassified
Intron 19 c.3140-33A>G 3272-33A/G unclassified
Exon 19 c.3138del unclassified
Exon 19 c.2997_3000del 3129del4 ; 3126del4 disease-causing
Exon 19 c.3064_3117del 3196del54 disease-causing
Exon 19 c.3124C>T Q1042X disease-causing
Exon 19 c.3041A>G Y1014C unclassified
Intron 19 c.3139+42A>T 3271+42A/T non disease-causing
Exon 19 c.3131A>G E1044G unclassified
Intron 19 c.3139+101C>G 3271+101C/G unclassified
Intron 19 c.3140-16T>A unclassified
Intron 20 c.3368-140A>C 3500-140A/C non disease-causing
Exon 20 c.3294G>C W1098C disease-causing
Exon 20 c.3304A>T R1102X disease-causing
Exon 20 c.3148C>G P1050A unclassified
Exon 20 c.3180del 3312delA unclassified
Exon 20 c.3233T>C F1078S unclassified
Exon 20 c.3262A>G N1088D unclassified
Exon 20 c.3290G>A R1097H unclassified
Exon 20 c.3160C>G H1054D disease-causing
Exon 20 c.3191_3192insTTTTAAGCTTAAAAGG disease-causing
Exon 20 c.3197G>C R1066P disease-causing
Exon 20 c.3209G>A R1070Q disease-causing
Exon 20 c.3254A>G H1085R disease-causing
Exon 20 c.3276C>A Y1092X(C>A) disease-causing
Intron 20 c.3367+37G>A 3499+37G/A non disease-causing
Exon 20 c.3302T>G M1101R disease-causing
Exon 20 c.3353C>T S1118F disease-causing
Exon 20 c.3170C>G T1057R unclassified
Exon 20 c.3222T>A F1074L unclassified
Exon 20 c.3257C>T T1086I unclassified
Exon 20 c.3288G>A unclassified
Exon 20 c.3340G>C V1114L unclassified
Exon 20 c.3154T>G F1052V disease-causing
Exon 20 c.3189G>A W1063X disease-causing
Exon 20 c.3197G>A R1066H disease-causing
Exon 20 c.3208C>T R1070W disease-causing
Exon 20 c.3230T>C L1077P disease-causing
Exon 20 c.3266G>A W1089X disease-causing
Exon 20 c.3294G>A W1098X(TGA) disease-causing
Exon 20 c.3302T>A M1101K disease-causing
Exon 20 c.3324del disease-causing
Exon 20 c.3160C>T H1054Y unclassified
Exon 20 c.3200C>T A1067V unclassified
Exon 20 c.3256A>G T1086A unclassified
Exon 20 c.3285A>T T1095T (3417A/T) unclassified
Exon 20 c.3322G>C V1108L unclassified
Exon 20 c.3184_3188dup 3320ins5 disease-causing
Exon 20 c.3196C>T R1066C disease-causing
Exon 20 c.3205G>A G1069R disease-causing
Exon 20 c.3229_3230del 3359delCT disease-causing
Exon 20 c.3264del 3396delC disease-causing
Exon 20 c.3293G>A W1098X(TAG) disease-causing
Intron 20 c.3368-2dup unclassified
Exon 20 c.3297C>A F1099L disease-causing
Exon 20 c.3310G>T E1104X disease-causing
Exon 20 c.3151A>G I1051V unclassified
Exon 20 c.3199G>A A1067T unclassified
Exon 20 c.3241G>C A1081P unclassified
Exon 20 c.3274T>C Y1092H unclassified
Exon 20 c.3299A>C Q1100P unclassified
Exon 20 c.3181G>C G1061R disease-causing
Exon 20 c.3194T>C L1065P disease-causing
Exon 20 c.3197G>T R1066L disease-causing
Exon 20 c.3211C>T Q1071X disease-causing
Exon 20 c.3263dup disease-causing
Exon 20 c.3292T>C W1098R disease-causing
Intron 21 c.3468+2T>C 3600+2T>C disease-causing
Intron 21 c.3468+5G>A 3600+5G>A unclassified
Intron 21 c.3469-17T>C 3601-17T>C unclassified
Exon 21 c.3382A>T R1128X disease-causing
Exon 21 c.3458T>A V1153E disease-causing
Exon 21 c.3380G>A G1127E unclassified
Exon 21 c.3422G>A S1141N unclassified
Exon 21 c.3461A>T D1154V unclassified
Intron 21 c.(3468+1_3469-1)_(3717+1_3718-1)del disease-causing
Intron 21 c.3468+51C>A unclassified
Intron 21 c.3469-1473A>G unclassified
Exon 21 c.3454G>C D1152H disease-causing
Exon 21 c.3371_3373del E1123del unclassified
Exon 21 c.3409A>G M1137V unclassified
Exon 21 c.3460G>A D1154N unclassified
Intron 21 c.3469-65C>A 3601-65C/A non disease-causing
Intron 21 c.[3469-331_3469-295del;3469-189_3717+3822del] disease-causing
Intron 21 c.3469-1374A>C unclassified
Exon 21 c.3415A>G I1139V disease-causing
Exon 21 c.3468G>A L1156L (3600G/A) disease-causing
Exon 21 c.3406G>A A1136T unclassified
Exon 21 c.3454_3455del unclassified
Intron 21 c.3469-1304C>G disease-causing
Intron 21 c.3468+70T>C unclassified
Intron 21 c.3469-20T>C 3601-20T>C unclassified
Exon 21 c.3400_3401delinsGTA 3532AC>GTA disease-causing
Exon 21 c.3461A>G D1154G disease-causing
Exon 21 c.3382A>G R1128G unclassified
Exon 21 c.3443A>G N1148S unclassified
Intron 22 c.3717+4A>G 3849+4A>G disease-causing
Intron 22 c.3717+53del unclassified
Intron 22 c.3718-48A>G unclassified
Exon 22 c.3617C>A S1206X(C>A) disease-causing
Exon 22 c.3691del 3821delT disease-causing
Exon 22 c.3471G>A M1157I unclassified
Exon 22 c.3590A>T H1197L unclassified
Exon 22 c.3681A>G L1227L (3813A/G) unclassified
Exon 22 c.3485G>T 3617G/T disease-causing
Exon 22 c.3587C>G S1196X disease-causing
Intron 22 c.3717+45G>A 3849+45G>A unclassified
Intron 22 c.3718-24G>A unclassified
Intron 22 c.3717+40A>G 3849+40A>G disease-causing
Exon 22 c.3611G>A W1204X(3743G>A) disease-causing
Exon 22 c.3659del 3791delC disease-causing
Exon 22 c.3717G>A 3849G>A disease-causing
Exon 22 c.3562T>C S1188P unclassified
Exon 22 c.3644_3645delinsAT L1215H unclassified
Exon 22 c.3484C>T R1162X disease-causing
Exon 22 c.3532_3535dup 3667ins4 disease-causing
Intron 22 c.3718-2477C>T 3849+10kbC>T disease-causing
Intron 22 c.3718-2487A>T unclassified
Intron 22 c.3717+1G>A 3849+ 1G- >A disease-causing
Exon 22 c.3605del 3737delA disease-causing
Exon 22 c.3623del 3755delG disease-causing
Exon 22 c.3712C>T Q1238X disease-causing
Exon 22 c.3503A>G D1168G unclassified
Exon 22 c.3628A>G M1210V unclassified
Exon 22 c.3713A>G Q1238R unclassified
Exon 22 c.3476C>T S1159F disease-causing
Exon 22 c.3528del 3659delC disease-causing
Intron 22 c.3718-1G>A 3850-1G>A disease-causing
Intron 22 c.3717+68A>G unclassified
Intron 22 c.3718-79T>C 3850-79T/C unclassified
Exon 22 c.3618_3619del 3750delAG disease-causing
Exon 22 c.3700A>G I1234V disease-causing
Exon 22 c.3473G>T R1158L unclassified
Exon 22 c.3598delinsTCT unclassified
Exon 22 c.3705T>G S1235R unclassified
Exon 22 c.3472C>T R1158X disease-causing
Exon 22 c.3492dup K1165X disease-causing
Exon 22 c.3598_3599delinsG disease-causing
Intron 23 c.3873+1G>A 4005+1G>A disease-causing
Intron 23 c.3873+112A>C unclassified
Intron 23 c.3874-71A>G unclassified
Exon 23 c.3731G>A G1244E disease-causing
Exon 23 c.3747del 3878delG disease-causing
Exon 23 c.3808G>A D1270N disease-causing
Exon 23 c.3857T>C F1286S disease-causing
Exon 23 c.3846G>T W1282C unclassified
Intron 23 c.3874-200G>A 4006-200G/A non disease-causing
Intron 23 c.3874-4522A>G disease-causing
Intron 23 c.3874-4A>G 4006-4A>G unclassified
Exon 23 c.3870A>G P1290P (4002A/G) non disease-causing
Exon 23 c.3746G>A G1249E disease-causing
Exon 23 c.3773dup 3905insT disease-causing
Exon 23 c.3846G>A W1282X disease-causing
Exon 23 c.3824A>T D1275V unclassified
Exon 23 c.3868C>A P1290T unclassified
Intron 23 c.3874-105T>G non disease-causing
Intron 23 c.3874-1_3874delinsAG disease-causing
Intron 23 c.3874-19_3874-17del 4006-19del3 unclassified
Exon 23 c.3745G>A G1249R disease-causing
Exon 23 c.3767dup 3898insC disease-causing
Exon 23 c.3838C>T Q1280X disease-causing
Exon 23 c.3754A>C T1252P unclassified
Exon 23 c.3854C>T A1285V unclassified
Intron 23 c.3874-1G>A disease-causing
Intron 23 c.3874-14C>G 4006- 14C- >G unclassified
Exon 23 c.3737C>T T1246I disease-causing
Exon 23 c.3752G>A S1251N disease-causing
Exon 23 c.3822G>A W1274X disease-causing
Exon 23 c.3872A>G Q1291R disease-causing
Exon 23 c.3854C>G A1285G unclassified
Intron 24 c.3964-3890_*3143delinsTAACT Del exon 22-24 disease-causing
Exon 24 c.3923A>C E1308A unclassified
Exon 24 c.3953T>C V1318A unclassified
Exon 24 c.3897A>G T1299T (4029A/G) non disease-causing
Exon 24 c.3891dup 4022insT disease-causing
Exon 24 c.3896C>T T1299I unclassified
Intron 24 c.3963+2T>A 4095+ 2T- >A disease-causing
Intron 24 c.3964-93T>G unclassified
Exon 24 c.3937C>A Q1313K unclassified
Exon 24 c.3889dup 4016insT disease-causing
Exon 24 c.3937C>T Q1313X disease-causing
Exon 24 c.3915T>A D1305E unclassified
Intron 24 c.3964-283T>C 4096-283T/C non disease-causing
Intron 24 c.3964-78_4242+577del CFTRdele22,23 ; Del exon 22-23 disease-causing
Exon 24 c.3935A>G D1312G unclassified
Exon 24 c.3883_3886del 4010del4 disease-causing
Exon 24 c.3909C>G N1303K disease-causing
Exon 24 c.3909_3914delinsTGT 4041_4046del6insTGT unclassified
Intron 24 c.3963+69A>G non disease-causing
Intron 24 c.3964-3C>G 4096-3C>G disease-causing
Exon 24 c.3927G>T Q1309H unclassified
Exon 24 c.3883del 4015delA disease-causing
Exon 24 c.3908A>T N1303I disease-causing
Exon 24 c.3907A>C N1303H unclassified
Intron 25 c.4137-139G>A 4269-139G/A non disease-causing
Exon 25 c.4054C>T Q1352X disease-causing
Exon 25 c.4086dup 4218insT disease-causing
Exon 25 c.3983T>C I1328T unclassified
Exon 25 c.4061T>C M1354T unclassified
Exon 25 c.4124A>G H1375R unclassified
Intron 25 c.4137-89A>G unclassified
Exon 25 c.4051A>T K1351X disease-causing
Exon 25 c.4071_4073delinsAA disease-causing
Exon 25 c.3971T>C L1324P unclassified
Exon 25 c.4056G>T Q1352H(G>T) unclassified
Exon 25 c.4091C>T A1364V unclassified
Intron 25 c.4137-136A>G unclassified
Exon 25 c.4046G>A G1349D disease-causing
Exon 25 c.4071del disease-causing
Exon 25 c.4129G>C D1377H disease-causing
Exon 25 c.4053_4054delinsAG unclassified
Exon 25 c.4085G>A S1362N unclassified
Intron 25 c.4136+5G>A disease-causing
Exon 25 c.4004T>C L1335P disease-causing
Exon 25 c.4056G>C Q1352H(G>C) disease-causing
Exon 25 c.4097T>C I1366T disease-causing
Exon 25 c.4015C>T L1339F unclassified
Exon 25 c.4064G>T C1355F unclassified
Exon 25 c.4127T>C L1376S unclassified
Intron 26 c.4242+13A>G 4374+13A/G non disease-causing
Intron 26 c.4243-16A>G unclassified
Exon 26 c.4168C>T Q1390X disease-causing
Exon 26 c.4234C>T Q1412X disease-causing
Exon 26 c.4188A>G T1396T (4320A/G) unclassified
Exon 26 c.4242_4242+1delinsTT 4374_4374+1GG>TT unclassified
Intron 26 c.4242+65G>A unclassified
Exon 26 c.4147dup 4279insA disease-causing
Exon 26 c.4231C>T Q1411X disease-causing
Exon 26 c.4186A>C T1396P unclassified
Exon 26 c.4225G>A E1409K unclassified
Intron 26 c.4243-7del disease-causing
Intron 26 c.4243-32del unclassified
Exon 26 c.4144C>T Q1382X disease-causing
Exon 26 c.4200_4201del 4332delTG disease-causing
Exon 26 c.4147A>G I1383V unclassified
Exon 26 c.4224G>A 4356G/A unclassified
Intron 26 c.4242+1G>A 4374+1G>A disease-causing
Intron 26 c.4243-2A>C unclassified
Exon 26 c.4197_4198del 4326delTC disease-causing
Exon 26 c.4139C>T T1380I unclassified
Exon 26 c.4202A>G E1401G unclassified
Exon 27 c.4417G>T E1473X unclassified
Exon 27 c.4276T>C S1426P disease-causing
Exon 27 c.4426C>T Q1476X disease-causing
Exon 27 c.4297G>A E1433K unclassified
Exon 27 c.4374dup unclassified
Exon 27 c.4251del 4382delA disease-causing
Exon 27 c.4364C>G S1455X disease-causing
Exon 27 c.4277C>T S1426F unclassified
Exon 27 c.4357C>T R1453W unclassified
Exon 27 c.4389G>A Q1463Q (4521G/A) non disease-causing
Exon 27 c.4303dup disease-causing
Exon 27 c.4275T>A D1425E unclassified
Exon 27 c.4439T>C L1480P unclassified
Exon 27 c.4272C>T Y1424Y (4404C/T) non disease-causing
Exon 27 c.4300_4301dup 4428insGA disease-causing
Exon 27 c.4264C>T R1422W unclassified
Exon 27 c.4333G>A D1445N unclassified
UTR 3 c.*133dup 4700T8/9 non disease-causing
UTR 3 c.*1251C>T unclassified
UTR 3 c.*133T>A unclassified
UTR 3 c.*2G>C unclassified
UTR 3 c.*47G>T unclassified
UTR 3 c.4442A>G unclassified





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