| Gene |
Region |
Localization |
Variation |
MAF |
p* |
| ADIPOR2variation #11592 |
12p13.3 |
Intron 2 |
315 bases deletion |
0.44 |
>0.05 |
| ADIPOR2 variation #24961 |
12p13.3 |
Intron 3 |
deletion of 134 bases |
0.11 |
>0.05 |
| CFTR mutations |
N |
Frequency |
| 2183AA>G/2183AA>G |
1 |
0.6% |
| 3120+1G>A/3120+1G>A |
1 |
0.6% |
| 3120+1G>A/R1066C |
1 |
0.6% |
| 3120+1G>A/L206W |
1 |
0.6% |
| F508del/F508del |
44 |
26% |
| F508del/G542X |
12 |
7.1% |
| F508del/R1162X |
4 |
2.4% |
| F508del/N1303K |
5 |
3% |
| F508del/R553X |
3 |
1.8% |
| F508del/S549R (T>G) |
1 |
0.6% |
| F508del/c.1717-1G>A |
2 |
1.6% |
| F508del/1584-18672pbA>G |
2 |
1.2% |
| F508del/1812-1G>A |
2 |
1.2% |
| F508del/2183AA>G |
2 |
1.2% |
| F508del/3272-26A>G |
1 |
0.6% |
| F508del/G85E |
1 |
0.6% |
| F508del/P205S |
1 |
0.6% |
| F508del/R1066C |
1 |
0.6% |
| F508del/duplication exon 6b – 16 |
1 |
0.6% |
| F508del/S4X |
1 |
0.6% |
| D110H/V232H |
1 |
0.6% |
| A561E/A561E |
1 |
0.6% |
| 622-2A>G/711+1G>T |
1 |
0.6% |
| G542X/R1162X |
1 |
0.6% |
| G542X/I618T |
1 |
0.6% |
| G542X/2183AA>G |
1 |
0.6% |
| G542X/R334W |
1 |
0.6% |
| G542X/P205S |
1 |
0.6% |
| G542X/R1070Q;S466X |
1 |
0.6% |
| R1162X/R1162X |
1 |
0.6% |
| R334W/R334W |
1 |
0.6% |
| R334W/R1066C |
1 |
0.6% |
| F508del/- |
26 |
15.4% |
| G542X/- |
5 |
3% |
| R1162X/- |
1 |
0.6% |
| I507V/- |
1 |
0.6% |
| TG11-5T/- |
1 |
0.6% |
| V562I/- |
1 |
0.6% |
| -/- |
35 |
20.7% |
|
