| Name of Mutation | Frequency | (%) | Population with the highest prevalence | ||
|---|---|---|---|---|---|
| [[Delta]]F508 | 28,948 | (66.0) | |||
| G542X | 1,062 | (2.4) | Spanish | ||
| G551D | 717 | (1.6) | English | ||
| N1303K | 589 | (1.3) | Italian | ||
| W1282X | 536 | (1.2) | Jewish-Askhenazi | ||
| R553X | 322 | (0.7) | German | ||
| 621+1G->T | 315 | (0.7) | French-Canadian | ||
| 1717-1G->A | 284 | (0.6) | Italian | ||
| R117H | 133 | (0.3) | |||
| R1162X | 125 | (0.3) | Italian | ||
| R347P | 106 | (0.2) | |||
| 3849+10kbC->T | 104 | (0.2) | |||
| [[Delta]]I507 | 93 | (0.2) | |||
| 394delTT | 78 | 10-30%* | Nordic, Finnish | ||
| G85E | 67 | ||||
| R560T | 67 | ||||
| A455E | 62 | ||||
| 1078delT | 57 | ||||
| 2789+5G->A | 54 | Spanish | |||
| 3659delC | 54 | ||||
| R334W | 53 | ||||
| 1898+1G->T | 53 | ||||
| 711+1G->T | 49 | French-Canadian | |||
| 2183AA->G | 40 | Italian | |||
| 3905insT | 38 | 6-17%* | Swiss; Amish; Acadian | ||
| S549N | 30 | ||||
| 2184delA | 29 | ||||
| Q359K/T360K | 87.5%* | Jewish-Georgian | |||
| M1101K | 69%* | Hutterite | |||
| Y122X | 48%* | French, Reunion Island | |||
| 1898+5G->T | 30% | Chinese, Taiwan | |||
| 3120+1G->A | 11% | African-American | |||
| I148T | 9.1% | French-Canadian | |||
The source of data is obtained from the CF Genetic Analysis Consortium (1994). The frequency is based on the screening of 43,849 CF chromosomes, although not all of them have been tested for the indicated mutations. The mutations are found in patients of Caucasian origin, except indicated otherwise. The geographic location (or ethnic group) with the highest prevalence is indicated for some of the mutations. A rough relative frequency (expressed in %,*) is given for those mutations studied in relatively small-size samples or in the indicated populations only.