Go to 
|
  
|
CFTR- France & CFTR-NGS catalog have retrieved 102 FRAMESHIFTS, which are displayed below:
| #Exon/intron | Name (HGVS) | Legacy name | Class in CFTR-France | Report in CFTR-NGS | Report in CFTR-France | MAF (GnomAD) | Splicing prediction (SpliceAI) |
|---|---|---|---|---|---|---|---|
| Exon 1 | c.25dup | disease-causing | CF:2 CFTR-RD:1 | - | - | ||
| Exon 1 | c.49_50dup | disease-causing | CF:1 | - | - | ||
| Intron 1 | c.54-4235_164+377dup4723 | disease-causing | CF:1 | - | - | ||
| Exon 3 | c.168del | 300delA | disease-causing | CF:4 Pending:1 | - | - | |
| Exon 3 | c.175dup | 306insA | disease-causing | CF:1 | - | - | |
| Exon 3 | c.233del | 360delT | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 3 | c.233dup | 359insT ; 360-365insT ; 365-366insT (W79fs) | disease-causing | CF:2 CFTR-RD:2 | - | - | |
| Exon 3 | c.174_177del | 306delTAGA | disease-causing | CF:1 | - | - | |
| Exon 3 | c.262_263del | 394delTT | disease-causing | CF:26 CFTR-RD:7 Fetal bowel anomalies:1 Pending:2 | - | - | |
| Exon 4 | c.442del | 574delA | disease-causing | CF:7 Pending:1 | - | - | |
| Exon 4 | c.409_412del | 541del4 | disease-causing | CF:2 | - | - | |
| Exon 4 | c.410_416del | disease-causing | CF:1 Fetal bowel anomalies:1 | - | - | ||
| Exon 4 | c.325_327delinsG | 457TAT>G | disease-causing | CF:2 CFTR-RD:1 | - | - | |
| Exon 5 | c.531dup | disease-causing | CF:1 | - | - | ||
| Exon 5 | c.543_546del | 675del4 | disease-causing | CF:1 | - | - | |
| Exon 5 | c.519_526del8 | not reported | CFTR-RD:1 | - | - | ||
| Exon 6 | c.586dup | disease-causing | CF:1 | - | - | ||
| Exon 6 | c.601del | 733delG | disease-causing | Fetal bowel anomalies:1 | - | - | |
| Exon 6 | c.671del | disease-causing | Pending:1 | - | - | ||
| Exon 7 | c.773del | 905delG | disease-causing | CF:2 | - | - | |
| Exon 7 | c.861_865del | 991del5 | disease-causing | CF:3 | - | - | |
| Exon 7 | c.755delinsGCTGGGAAGAT | disease-causing | CF:1 | - | - | ||
| Exon 8 | c.948del | 1078delT | disease-causing | CF:34 CFTR-RD:2 Pending:4 | - | - | |
| Exon 8 | c.959del | disease-causing | CF:1 | - | - | ||
| Exon 8 | c.1081del | 1213delT | disease-causing | Pending:1 | - | - | |
| Exon 8 | c.1083del | 1215delG | disease-causing | CF:2 | - | - | |
| Exon 8 | c.1093_1094del | 1221delCT | disease-causing | CF:4 | - | - | |
| Exon 9 | c.1130dup | disease-causing | CF:1 | - | - | ||
| Exon 9 | c.1162_1168del | 1294del7 | disease-causing | CF:1 | - | - | |
| Exon 10 | c.1235del | 1367delC | disease-causing | CF:2 | - | - | |
| Exon 10 | c.1234_1238del5 | not reported | - | - | |||
| Exon 11 | c.1418del | 1548delG | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 11 | c.1477_1478del | 1609delCA | disease-causing | CF:4 | - | - | |
| Exon 11 | c.1579_1584+11del | 1706del17 | disease-causing | CFTR-RD:1 | - | - | |
| Exon 12 | c.1650del | 1782delA | disease-causing | CF:1 | - | - | |
| Exon 12 | c.1670del | 1802delC | disease-causing | CF:4 | - | - | |
| Exon 12 | c.1674del | 1806delA | disease-causing | CF:1 | - | - | |
| Exon 12 | c.1642_1643del | 1774delCT | disease-causing | CF:1 | - | - | |
| Exon 13 | c.1703del | 1833delT | disease-causing | CF:1 | - | - | |
| Exon 14 | c.1904del | disease-causing | CF:1 | - | - | ||
| Exon 14 | c.1981del | 2113delA | disease-causing | CF:1 | - | - | |
| Exon 14 | c.2044dup | disease-causing | - | - | |||
| Exon 14 | c.2045dup | 2176insC | disease-causing | - | - | ||
| Exon 14 | c.2052del | 2184delA | disease-causing | CF:9 CFTR-RD:4 Pending:1 | - | - | |
| Exon 14 | c.2052dup | 2184insA | disease-causing | CF:18 CFTR-RD:1 Fetal bowel anomalies:1 | - | - | |
| Exon 14 | c.2089dup | 2221insA | disease-causing | CFTR-RD:1 | - | - | |
| Exon 14 | c.2175dup | 2307insA | disease-causing | CF:1 | - | - | |
| Exon 14 | c.2215del | 2347delG | disease-causing | CF:7 | - | - | |
| Exon 14 | c.2291del | 2423delG | disease-causing | CF:1 | - | - | |
| Exon 14 | c.2373del | disease-causing | CFTR-RD:1 | - | - | ||
| Exon 14 | c.2450del | disease-causing | CF:1 | - | - | ||
| Exon 14 | c.1792_1798del | 1924del7 | disease-causing | CF:1 | - | - | |
| Exon 14 | c.1986_1989del | 2118del4 ; 2116delCTAA | disease-causing | CF:5 CFTR-RD:1 | - | - | |
| Exon 14 | c.2051_2052del | 2183delAA | disease-causing | CF:1 | - | - | |
| Exon 14 | c.2241_2248del | 2372del8 | disease-causing | CF:1 | - | - | |
| Exon 14 | c.2249_2256del | 2380_2387del | disease-causing | CF:1 | - | - | |
| Exon 14 | c.2324_2325del | 2456delAC | disease-causing | CF:1 | - | - | |
| Exon 14 | c.2051_2052delinsG | 2183AA>G | disease-causing | Asymptomatic:1 CF:37 CFTR-RD:11 Pending:3 | - | - | |
| Exon 15 | c.2502del | 2634delT | disease-causing | CF:1 | - | - | |
| Exon 15 | c.2508del | 2640delT | disease-causing | CF:1 | - | - | |
| Exon 15 | c.2583del | 2711delT | disease-causing | CF:9 Pending:1 | - | - | |
| Exon 15 | c.2601dup | 2732insA | disease-causing | CFTR-RD:1 | - | - | |
| Exon 15 | c.2589_2599del | 2721del11 | disease-causing | CF:1 | - | - | |
| Exon 16 | c.2639_2640dup | disease-causing | CF:1 | - | - | ||
| Exon 17 | c.2810dup | 2942insT | disease-causing | CF:1 | - | - | |
| Exon 17 | c.2875del | 3007delG | disease-causing | CF:1 | CF:14 CFTR-RD:2 | - | AG: 0.00 (-43) AL: 0.00 (2) DG: 0.04 (34) DL: 0.00 (30) |
| Exon 17 | c.2810dupT | not reported | CF:1 | 7e-06 | AG: 0.00 (-10) AL: 0.00 (22) DG: 0.00 (-9) DL: 0.00 (2) | ||
| Exon 17 | c.2763_2764dup | 2896insAG | disease-causing | CF:2 CFTR-RD:1 | - | - | |
| Exon 17 | c.2805_2810delinsTCAGA | disease-causing | CF:1 | - | - | ||
| Exon 18 | c.2924_2925del | 3056delGA | disease-causing | CF:1 | - | - | |
| Exon 18 | c.2919_2920ins121 | disease-causing | CF:2 | - | - | ||
| Exon 19 | c.3011del | disease-causing | CF:2 | - | - | ||
| Exon 19 | c.3022del | 3154delG | disease-causing | CF:1 | - | - | |
| Exon 19 | c.3068_3072del | 3200_3204delTAGTG | disease-causing | CF:1 | - | - | |
| Exon 20 | c.3263dup | disease-causing | CF:1 | - | - | ||
| Exon 20 | c.3264del | 3396delC | disease-causing | CF:1 | - | - | |
| Exon 20 | c.3324del | disease-causing | CF:1 | - | - | ||
| Exon 20 | c.3184_3188dup | 3320ins5 | disease-causing | CF:1 | - | - | |
| Exon 20 | c.3229_3230del | 3359delCT | disease-causing | CF:2 | - | - | |
| Exon 20 | c.3191_3192insTTTTAAGCTTAAAAGG | disease-causing | Fetal bowel anomalies:1 | - | - | ||
| Exon 21 | c.3454_3455del | VUS | CF:1 | - | - | ||
| Exon 21 | c.3400_3401delinsGTA | 3532AC>GTA | disease-causing | CF:1 | - | - | |
| Exon 22 | c.3528del | 3659delC | disease-causing | Asymptomatic:1 CF:24 CFTR-RD:1 Fetal bowel anomalies:1 Pending:2 | - | - | |
| Exon 22 | c.3605del | 3737delA | disease-causing | CF:6 CFTR-RD:3 | - | - | |
| Exon 22 | c.3623del | 3755delG | disease-causing | CF:1 | - | - | |
| Exon 22 | c.3659del | 3791delC | disease-causing | CF:2 | - | - | |
| Exon 22 | c.3618_3619del | 3750delAG | disease-causing | CF:1 | - | - | |
| Exon 22 | c.3598_3599delinsG | disease-causing | CF:3 | - | - | ||
| Exon 22 | c.3599_3600delinsG | disease-causing | - | - | |||
| Exon 23 | c.3767dup | 3898insC | disease-causing | CF:1 | - | - | |
| Exon 23 | c.3773dup | 3905insT | disease-causing | CF:4 CFTR-RD:1 | - | - | |
| Exon 24 | c.3883del | 4015delA | disease-causing | CF:2 | - | - | |
| Exon 24 | c.3889dup | 4016insT | disease-causing | CF:7 CFTR-RD:2 Pending:1 | - | - | |
| Exon 24 | c.3891dup | 4022insT | disease-causing | CF:1 | - | - | |
| Exon 24 | c.3883_3886del | 4010del4 | disease-causing | CF:4 CFTR-RD:1 | - | - | |
| Exon 25 | c.4071del | disease-causing | CF:1 | - | - | ||
| Exon 25 | c.4071_4073delinsAA | disease-causing | CF:1 | - | - | ||
| Exon 26 | c.4147dup | 4279insA | disease-causing | CFTR-RD:1 | - | - | |
| Exon 27 | c.4251del | 4382delA | disease-causing | CF:6 | - | - | |
| Exon 27 | c.4303dup | disease-causing | CFTR-RD:3 | - | - | ||
| Exon 27 | c.4374dup | VUS | Pending:1 | - | - | ||
| Exon 27 | c.4300_4301dup | 4428insGA | disease-causing | CF:3 CFTR-RD:1 | - | - |