| Name of mutation | Location in CFTR | Location (Ethnic origin) | Number observed | Total number screened | % | Contributors/Institute |
|---|---|---|---|---|---|---|
| Europe, North | ||||||
| E60X | exon 3 | Belgium (Caucasian) | 4 | 194 | 2.1 | Lissens W, Bonduelle M, Liebaers I, Vrije Universiteit Brussels, Belgium |
| Belgium (Belgian) | 2 | 200 | 1.0 | Cuppens H, Cassiman J-J, University of Leuven (Gasthuisberg),Belgium | ||
| 1078delT | exon 7 (TM5) | Brittany (Celtic) | 27 | 475 | 5.7 | Férec C, Mercier B, Audrezet MP, Centre Dept Transfusion Sanguine,Brest,France |
| 1161delC | exon 7 (TM6) | England, North-West (Pakistani) | 2 | 24 | 8.3 | Schwarz M, Malone GM, Super M, Royal Manchester Children's Hospital, UK |
| 296+12T->C | intron 2 | England, North-West (Pakistani) | 2 | 24 | 8.3 | Schwarz M, Malone GM, Super M, Royal Manchester Children's Hospital, UK |
| G91R | exon 3 (TM1) | France | 4 | 266 | 1.5 | Geldmann D, Aymard P, Trousseau Hospital, Paris, France |
| S1235R | exon 19 (NBF2) | France, South (Mediterranean) | 4 | 340 | 1.2 | Claustres M, DesGeorges M, Laussel M, Institut de Biologie, Montpellier, France |
| 2143delT | exon 13 (R-domain) | Moscow (Russian) | 4 | 118 | 3.4 | Verlingue C, Kapranov N, Férec C, Centre de Biogenetique, Brest, France |
| Germany (Caucasian) | 2 | 206 | 1 | Reis A, Varon R, Sperling K, Freie Universität Berlin, Germany | ||
| 3272-26A->G | intron 17a | Portugal (Portugese) | 3 | 105 | 2.8 | Duarte A, Pacheco P, Lavinha J, Inst Nacional de Saude, Lisboa, Portugal |
| France (mostly French) | 3 | 281 | 1.1 | Costes B, Ghanem N, Goossens M, Lab GénétMoléc,CHUHMondor,Créteil, France | ||
| Belgium (Belgian) | 2 | 200 | 1.0 | Cuppens H, Cassiman J-J, University of Leuven (Gasthuisberg), Belgium | ||
| 394delTT | exon 3 (TM1) | Sweden (Swedish) | 24 | 368 | 6.5 | Anvret M, Stolpe L, Karolinska Hospital, Stockholm, Sweden |
| 13 | 182 | 7.1 | Holmberg L, Schaedel C, University Hospital, Lund, Sweden | |||
| 3 | 84 | 3.6 | Macek M Jr, Dahl N, Kollberg H, Charles University, Prague, The Czech Republic | |||
| Finland (Finnish) | 12 | 40 | 30.0 | Kere J, Estivill X, de la Chapelle A, University of Helsinki, Finland | ||
| Denmark | 10 | 624 | 1.6 | Schwartz M, University of Copenhagen, Denmark | ||
| Norway | 7 | 158 | 4.4 | Eiklid K, Ullevál University Hospital, Oslo, Norway | ||
| 2 | 38 | 5.5 | Tranebjaerg L, Regional Hospital, Tromsø, Norway | |||
| 1 | 46 | 2.2 | Eiken G, Haukeland Hospital, Bergen, Norway | |||
| Estonia | 6 | 48 | 12.5 | Teder M, University of Tartu, Estonia | ||
| S1251N | exon 20 (NBF2) | The Netherlands (Dutch) | 5 | 398 | 1.3 | Scheffer H, Dijktra D-JW, Buys CHCM, Univ Groningen, The Netherlands |
| Belgium (Belgian) | 4 | 200 | 2.0 | Cuppens H, Cassiman J-J, University of Leuven (Gasthuisberg), Belgium | ||
| 2 | 194 | 1.0 | Lissens W, Bonduelle M, Liebaers I, Vrije Universiteit Brussels, Belgium | |||
| Y122X | exon 4 (TM2) | Réunion Island | 14 | 29 | 48 | Kitzis A, Chomel JC, CHU-Cochin, Paris, France |
| 2184insA | exon 13 (R-domain (Russian)) | Russia, Moscow | 3 | 118 | 2.5 | Verlingue C, Kapranov N, Férec C, Centre de Biogenetique, Brest, France |
| Bulgaria (Bulgarian) | 2 | 166 | 1.2 | Kalaydjieva L,Angelicheva D,Jordanova A, Univ Obstet & Gyn Hosp,Sofia, Bulgaria | ||
| 3821delT | exon 19 | Russia, Moscow (Russian) | 3 | 118 | 2.5 | Verlingue C, Kapranov N, Férec C, Centre de Biogenetique, Brest, France |
| R1283M | exon 20 (NBF2) | Wales (Welsh) | 3 | 183 | 1.6 | Cheadle J, Meredith L, University of Wales College of Medicine,Cardiff,Wales |
| Europe, South | ||||||
| 457TAT->G | exon 4 | Austria | 4 | 334 | 1.2 | Wagner K, Greil I, Rosenkranz W, University of Graz, Austria |
| 1677delTA | exon 10 (NBF1) | Bulgaria (Bulgarian, Turkish) | 5 | 222 | 2.3 | Kalaydjieva L,Angelicheva D,Jordanova A, Univ Obstet & Gyn Hosp,Sofia, Bulgaria |
| R1070Q | exon 17b | Bulgaria (Bulgarian) | 4 | 166 | 2.4 | Kalaydjieva L,Angelicheva D,Jordanova A, Univ Obstet & Gyn Hosp,Sofia, Bulgaria |
| 2183AA->G | exon 13 (R-domain) | Italy, North East | 21 | 225 | 9.3 | Pignatti PF, Gasparini P, Cabrini G, University CF Center,Verona, Italy |
| France (Mixed Caucasian) | 11 | 1200 | 1 | Chevalier-Porst F, Bonardot AM, Bozon D, Hôpital Debroussé, Lyon, France | ||
| Belgium (Belgian) | 4 | 194 | 2.1 | Lissens W, Bonduelle M, Liebaers I, Vrije Universiteit Brussels, Belgium | ||
| Bulgaria (Bulgarian) | 2 | 187 | 1.1 | Kalaydjieva L,Angelicheva D,Jordanova A, Univ Obstet & Gyn Hosp,Sofia, Bulgaria | ||
| Belgium (Belgian) | 2 | 200 | 1.0 | Cuppens H, Cassiman J-J, University of Leuven (Gasthuisberg), Belgium | ||
| 711+5G->A | intron 5 | Italy, North East (Caucasian) | 6 | 225 | 2.7 | Pignatti PF, Gasparini P, Cabrini G, University CF Center,Verona, Italy |
| T338I | exon 7 (TM6) | Italy, Sardinia | 4 | 86 | 4.7 | Cao A, Leoni GB, Rosatelli C, Universita' Studi Cagliari, Sardinia, Italy |
| Q552X | exon 11 (NBF1) | Italy, North East | 3 | 225 | 1.3 | Pignatti PF, Gasparini P, Cabrini G, University CF Center,Verona, Italy |
| R1066C | exon 17b | Portugal (Portugese) | 5 | 105 | 4.8 | Duarte A, Pacheco P, Lavinha J, Inst Nacional de Saude, Lisboa, Portugal |
| 1811+1.2kbA->G (formerly 3601-111G->C) | intron 11 (NBF1) | Spain (Spanish) | 19 | 972 | 1.9 | Nunes V, Casals T, Estivill X, Cancer Research Institute, Barcelona, Spain |
| Spain, Zaragoza (Caucasian) | 3 | 96 | 3.1 | Palacio A, Casals T, Estivill X, Facaulty of Medicine, Zaragoza, Spain | ||
| 1949del84 | exon 13 (R-domain) | Spain (Spanish) | 2 | 136 | 1.5 | Molano J, EzQuieta B, Granell R, Hospital La Paz, Madrid, Spain |
| 1609delCA | exon 10 (NBF1) | Spain, Zaragoza (Caucasian) | 3 | 96 | 3.1 | Palacio A, Casals T, Estivill X, Faculty of Medicine, Zaragoza, Spain |
| 3905insT | exon 20 (NBF2) | Switzerland (Swiss) | 25 | 402 | 6.2 | Malik N, Buhler E, Rutishauser M, Univ Children's Hospital Basel, Switzerland |
| N. America (Louisiana Acadian) | 8 | 56 | 14.3 | Klinger K, Hilman B, Integrated Genetics, Framingham, MA, USA | ||
| N. America (Amish/Mennonite) | 5 | 30 | 16.7 | Klinger K, Schwartz R, Fujiwara M, IntegratedGenetics,Framingham, MA,USA | ||
| America, North | ||||||
| M1101K | exon 17b | Canada (Hutterite) | 22 | 32 | 69 | Fujiwara M, Schwartz R, Morgan K, McGill Univ, Montreal, Quebec, Canada |
| Y1092X | exon 17b | Canada, Quebec (French Canadian) | 7 | 444 | 1.6 | Rozen R, Morgan K, Fujiwara M, McGill University, Montreal, Quebec, Canada |
| France (mostly French) | 4 | 281 | 1.4 | Costes B, Ghanem N, Goossens M, Lab GénétMoléc,CHUHMondor,Créteil, France | ||
| I148T | exon 4 | Canada, Quebec (French Canadian) | 6 | 66 | 9.1 | Morgan K, Thibault M, Fujiwara M, McGill Univ, Montreal, Quebec, Canada |
| 3120+1G->A | intron 16 (TM9) | USA (African-American) | 11 | 79 | 13.9 | Macek M Jr, Hamosh A, Cutting GR, Johns Hopkins Hospital, Baltimore,USA |
| America, Southeast (Black) | 3 | 33 | 9.1 | Friedman KJ, Heim R, Silverman L, Univ of North Carolina, Chapel Hill, NC, USA | ||
| A559T | exon 11 (NBF1) | USA (African-American) | 2 | 79 | 2.5 | Macek M Jr, Hamosh A, Cutting GR, Johns Hopkins Hosp, Baltimore, USA |
| S1255X | exon 20 (NBF2) | USA (African-American) | 2 | 79 | 2.5 | Macek M Jr, Hamosh A, Cutting GR, Johns Hopkins Hosp, Baltimore, USA |
| Asia | ||||||
| Q359K/T360K | exon 7 | Israel (Georgian Jews) | 7 | 8 | 87.5 | Shoshani T, Kerem B, Hebrew University of Jerusalem, Israel |
| S549I | exon 11 (NBF1) | Israel (Arabs) | 2 | 40 | 5.0 | Shoshani T, Kerem B, Hebrew University of Jerusalem, Israel |
| R347H | exon 7 (TM6) | Turkey | 4 | 134 | 3 | Coskun T, Özgüc M, Hacettepe University, Ankara, Turkey |
| 1898+5G->T | intron 12 | Taiwan (Chinese) | 3 | 10 | 30.0 | Zielenski J, Tsui L-C, Lin S-P, The Hosp for Sick Children, Toronto, Canada |