Examples of complex alleles in the CFTR gene
| Principal mutation | Location | Second site alteration | Location | Reference |
|---|---|---|---|---|
| R75X | exon 3 | 125G->C | promoter | Dork, 1994 #109 |
| 405+1G->A | intron 3 | 3030G->A | exon 15 | Dork, 1994 #109 |
| R117H | exon 4 | 129G->C | promoter | Zielenski, 1991 #210 |
| R117H | exon 4 | IVS8:5T or 7T | intron 8 | Kiesewetter, 1993 #128 |
| R297Q | exon 7 | IVS8:5T or 7T | intron 8 | Dorval, 1994 #110 |
| [[Delta]]F508 | exon 10 | R553Q | exon 11 | Dork, 1991 #237 |
| [[Delta]]F508 | exon 10 | I1027T | exon 17a | Dork, 1994 #109 |
| [[Delta]]F508 | exon 10 | deletion of D7S8 | 500 kb 3' of CFTR | Wagner, 1994 #255 |
| S549N | exon 11 | R75Q | exon 3 | J Zielenski, D Markiewicz, L-C Tsui unpublished data |
| L619S | exon 13 | 1716G->A | exon 10 | Dork, 1994 #109 |
| G628R(G->C) | exon 13 | S1235R | exon 19 | Cuppens, 1993 #105 |
| 2184insA | exon 13 | 5TIVS8 | exon 9 | J Zielenski, J Bal, D Markiewicz, L-C Tsui unpublished data |
| A800G | exon 13 | IVS8:5T or 7T | intron 8 | Chillon, 1995 #305 |
| S912L | exon 15 | G1244V | exon 20 | Savov, 1995 #309 |
| G1069R | exon 17b | L88X | exon 3 | Savov, 1995 #309 |
| 3732delA | exon 19 | K1200E | exon 19 | Fanen, 1991 #114 |
| 3849+10kbC->T | intron 19 | R668C | exon 13 | Dork, 1994 #109 |
| S1251N | exon 20 | F508C | exon 10 | Kalin, 1992 #123 |
The status of principal mutation may not be clear in every case; e.g., G628R(G->C) versus S1235R. The details of each mutation may be obtained from previous reviews [Consortium, 1994 #231; Consortium, 1993 #269; Welsh, 1995 #176].