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The CFTR-NGS catalog has retrieved 217 DELETIONS, which are displayed below:
| #Exon/intron | Name (HGVS) | Legacy name | Class in CFTR-France | Report in CFTR-NGS | MAF (GnomAD) | Splicing prediction (SpliceAI) |
|---|---|---|---|---|---|---|
| UTR 5 | c.3468+6401_3468+6404del5 | not reported | - | - | ||
| Intron 1 | c.54-1412delA | not reported | Suspicion of CF:1 | - | AG: 0.00 (46) AL: 0.00 (-37) DG: 0.00 (12) DL: 0.00 (44) | |
| Intron 1 | c.54-3942delA | not reported | - | - | ||
| Intron 1 | c.54-3948delA | not reported | - | - | ||
| Intron 1 | c.54-3949delG | not reported | - | - | ||
| Intron 1 | c.54-9813delC | not reported | Asymptomatic:23 CF:17 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:24 | 0.563628 | AG: 0.00 (-35) AL: 0.00 (42) DG: 0.00 (-25) DL: 0.00 (50) | |
| Intron 1 | c.54-6848_54-6841del8 | not reported | Asymptomatic:1 | - | - | |
| Intron 1 | c.53+2325_53+2352del28 | not reported | Asymptomatic:1 | - | - | |
| Intron 1 | c.53+7122_53+7131del10 | not reported | Pending (NBS):1 | - | - | |
| Intron 1 | c.53+9519_53+9528del10 | not reported | Asymptomatic:1 | - | - | |
| Intron 1 | c.54-3942_54-3941delAG | not reported | CFTR-RD:1 | - | AG: 0.00 (-2) AL: 0.00 (23) DG: 0.00 (-2) DL: 0.00 (23) | |
| Intron 1 | c.54-3950_54-3949delTG | not reported | - | - | ||
| Intron 1 | c.54-7459_54-7449del11 | not reported | Asymptomatic:1 | - | - | |
| Exon 2 | c.100_117del | 232del18 | disease-causing | - | - | |
| Exon 3 | c.168del | 300delA | disease-causing | - | - | |
| Exon 3 | c.233del | 360delT | disease-causing | - | - | |
| Exon 3 | c.174_177del | 306delTAGA | disease-causing | - | - | |
| Exon 3 | c.262_263del | 394delTT | disease-causing | - | - | |
| Intron 3 | c.273+3513delG | not reported | - | - | ||
| Intron 3 | c.274-7743delA | not reported | CFTR-RD:1 | 0.020553 | AG: 0.00 (-25) AL: 0.00 (39) DG: 0.00 (19) DL: 0.00 (1) | |
| Intron 3 | c.274-9503delC | not reported | Asymptomatic:1 | - | AG: 0.00 (0) AL: 0.00 (-39) DG: 0.00 (-45) DL: 0.00 (-13) | |
| Intron 3 | c.273+93_273+103del11 | not reported | Suspicion of CF:1 | - | - | |
| Intron 3 | c.274-3397_489+710del | dele4 | disease-causing | - | - | |
| Intron 3 | c.273+7616_273+7624del9 | not reported | Suspicion of CF:1 | - | - | |
| Intron 3 | c.274-5989_274-5981del9 | not reported | Pending (NBS):1 | - | - | |
| Intron 3 | c.273+1205_273+1215del11 | not reported | CFTR-RD:1 | - | - | |
| Intron 3 | c.273+3513_273+3514delGA | not reported | - | - | ||
| Intron 3 | c.274-8353_274-8343del11 | not reported | Asymptomatic:1 | - | - | |
| Intron 3 | c.273+8918_273+8920delTGT | not reported | Asymptomatic:5 CF:3 CFTR-RD:6 Pending (NBS):3 Suspicion of CF:11 | 0.092059 | AG: 0.00 (-14) AL: 0.00 (-31) DG: 0.00 (4) DL: 0.00 (45) | |
| Exon 4 | c.308del | disease-causing | - | - | ||
| Exon 4 | c.442del | 574delA | disease-causing | - | - | |
| Exon 4 | c.409_412del | 541del4 | disease-causing | - | - | |
| Exon 4 | c.410_416del | disease-causing | - | - | ||
| Intron 4 | c.490-16delT | not reported | CFTR-RD:1 | - | AG: 0.00 (28) AL: 0.00 (21) DG: 0.00 (45) DL: 0.00 (28) | |
| Exon 4 | c.469_477del9 | not reported | Asymptomatic:1 | - | - | |
| Intron 4 | c.490-23_490-4del | VUS | - | - | ||
| Intron 4 | c.490-287_490-276del12 | not reported | CFTR-RD:1 | - | - | |
| Exon 5 | c.543_546del | 675del4 | disease-causing | - | - | |
| Exon 5 | c.519_526del8 | not reported | CFTR-RD:1 | - | - | |
| Exon 6 | c.601del | 733delG | disease-causing | - | - | |
| Exon 6 | c.671del | disease-causing | - | - | ||
| Exon 6 | c.723_743+1del | 852del22 | disease-causing | - | - | |
| Intron 6 | c.744-10_744-3del | 876-10del8 | VUS | - | - | |
| Intron 6 | c.744-14_744-3del | 876-14del12 | VUS | - | - | |
| Exon 7 | c.773del | 905delG | disease-causing | - | - | |
| Exon 7 | c.861_865del | 991del5 | disease-causing | - | - | |
| Intron 7 | c.870-1345delA | not reported | Asymptomatic:24 CF:18 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:34 | 0.574576 | AG: 0.00 (-43) AL: 0.00 (-49) DG: 0.00 (-48) DL: 0.00 (35) | |
| Intron 7 | c.869+288_869+322del35 | not reported | Asymptomatic:1 | - | - | |
| Intron 7 | c.869+611_869+629del19 | not reported | Pending (NBS):1 | - | - | |
| Intron 7 | c.870-1113_870-1110del | disease-causing | - | - | ||
| Intron 7 | c.870-1113_870-1110delGAAT | not reported | Asymptomatic:1 CFTR-RD:1 | - | AG: 0.29 (-48) AL: 0.00 (26) DG: 0.00 (47) DL: 0.00 (-48) | |
| Exon 8 | c.948del | 1078delT | disease-causing | - | - | |
| Exon 8 | c.959del | disease-causing | - | - | ||
| Exon 8 | c.1002del | I336delG | VUS | - | - | |
| Exon 8 | c.1029del | 1161delC | disease-causing | - | - | |
| Exon 8 | c.1081del | 1213delT | disease-causing | - | - | |
| Exon 8 | c.1083del | 1215delG | disease-causing | - | - | |
| Exon 8 | c.935_937del | ΔF311 | disease-causing | - | - | |
| Exon 8 | c.1093_1094del | 1221delCT | disease-causing | - | - | |
| Intron 8 | c.1117-358delT | not reported | Asymptomatic:19 CF:8 CFTR-RD:11 Pending (NBS):4 Suspicion of CF:27 | 7e-06 | AG: 0.00 (42) AL: 0.00 (46) DG: 0.00 (38) DL: 0.00 (25) | |
| Exon 9 | c.1162_1168del | 1294del7 | disease-causing | - | - | |
| Intron 9 | c.1209+142_1209+148del7 | not reported | CF:1 | - | - | |
| Intron 9 | c.1209+153_1209+178del26 | not reported | CF:1 | - | - | |
| Intron 9 | c.1210-275_1210-274delAT | not reported | Suspicion of CF:1 | - | - | |
| Intron 9 | c.1209+2122_1209+2126del5 | not reported | Suspicion of CF:1 | 0.00143 | - | |
| Intron 9 | c.1209+1964_1209+1975del12 | not reported | CFTR-RD:1 | - | - | |
| Intron 9 | c.1209+2111_1209+2113delGGA | not reported | Suspicion of CF:1 | 0.001431 | AG: 0.00 (10) AL: 0.08 (-25) DG: 0.00 (-2) DL: 0.00 (16) | |
| Exon 10 | c.1235del | 1367delC | disease-causing | - | - | |
| Intron 10 | c.1392+1del | VUS | - | - | ||
| Exon 10 | c.1330_1331del | 1460delAT | disease-causing | - | - | |
| Exon 10 | c.1360_1368del | 1491_1500del | VUS | - | - | |
| Intron 10 | c.1392+198delT | not reported | Asymptomatic:16 CF:10 CFTR-RD:11 Pending (NBS):12 Suspicion of CF:5 | 0.376539 | AG: 0.00 (44) AL: 0.00 (8) DG: 0.00 (-6) DL: 0.00 (-8) | |
| Exon 10 | c.1234_1238del5 | not reported | - | - | ||
| Intron 10 | c.1393-2926delG | not reported | - | - | ||
| Intron 10 | c.1392+617_1392+624del8 | not reported | Pending (NBS):1 | - | - | |
| Intron 10 | c.1393-613_1393-604del10 | not reported | Pending (NBS):1 | - | - | |
| Intron 10 | c.1392+3810_1392+3818del9 | not reported | CFTR-RD:1 | - | - | |
| Intron 10 | c.1392+3257_1392+3277del21 | not reported | CFTR-RD:1 | - | - | |
| Intron 10 | c.1393-1489_1393-1488delTA | not reported | CF:1 CFTR-RD:1 Pending (NBS):1 Suspicion of CF:2 | 0.001614 | AG: 0.00 (31) AL: 0.00 (-9) DG: 0.00 (31) DL: 0.00 (0) | |
| Intron 10 | c.1393-1912_1393-1899del14 | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:13 | 0.236563 | - | |
| Intron 10 | c.1393-2927_1393-2926delTG | not reported | - | - | ||
| Intron 10 | c.1393-3544_1393-3535del10 | not reported | Asymptomatic:1 | - | - | |
| Intron 10 | c.1393-3575_1393-3559del17 | not reported | Pending (NBS):1 | - | - | |
| Intron 10 | c.1393-5118_1393-5109del10 | not reported | Asymptomatic:1 | - | - | |
| Exon 11 | c.1418del | 1548delG | disease-causing | - | - | |
| Exon 11 | c.1477_1478del | 1609delCA | disease-causing | - | - | |
| Exon 11 | c.1519_1521del | ΔI507 | disease-causing | - | - | |
| Exon 11 | c.1521_1523del | ΔF508 | disease-causing | Asymptomatic:6 CF:11 CFTR-RD:8 Pending (NBS):13 Suspicion of CF:11 | 0.00796 | AG: 0.00 (-39) AL: 0.01 (29) DG: 0.00 (-39) DL: 0.00 (-10) |
| Exon 11 | c.1545_1546del | 1677delTA | disease-causing | - | - | |
| Intron 11 | c.1585-443delA | not reported | Infertility:1 | - | AG: 0.00 (-2) AL: 0.00 (14) DG: 0.00 (29) DL: 0.01 (-8) | |
| Intron 11 | c.1584+3867delA | not reported | CFTR-RD:1 | 0.038238 | AG: 0.00 (-6) AL: 0.00 (-32) DG: 0.00 (-26) DL: 0.00 (-32) | |
| Intron 11 | c.1585-3307delC | not reported | Suspicion of CF:1 | 0.001082 | AG: 0.00 (-8) AL: 0.00 (12) DG: 0.00 (48) DL: 0.00 (-4) | |
| Intron 11 | c.1585-4416delC | not reported | Suspicion of CF:1 | 0.0166 | AG: 0.00 (-7) AL: 0.00 (39) DG: 0.00 (-32) DL: 0.00 (-30) | |
| Intron 11 | c.1584+13048delC | not reported | CF:1 Suspicion of CF:1 | 5.6e-05 | AG: 0.00 (-28) AL: 0.00 (32) DG: 0.00 (36) DL: 0.00 (43) | |
| Intron 11 | c.1585-10862delC | not reported | Asymptomatic:3 CF:2 CFTR-RD:3 Pending (NBS):2 Suspicion of CF:5 | 0.173777 | AG: 0.00 (9) AL: 0.00 (5) DG: 0.00 (-36) DL: 0.00 (-43) | |
| Exon 11 | c.1579_1584+11del | 1706del17 | disease-causing | - | - | |
| Intron 11 | c.1584+3634_1584+3641del8 | not reported | Suspicion of CF:1 | - | - | |
| Intron 11 | c.1584+2686_1584+2687delAT | not reported | Asymptomatic:1 | - | - | |
| Intron 11 | c.1585-7695_1585-7670del26 | not reported | Pending (NBS):1 | - | - | |
| Intron 11 | c.1585-8954_1585-8953delCT | not reported | Suspicion of CF:1 | 5.6e-05 | AG: 0.00 (-23) AL: 0.00 (-28) DG: 0.00 (-34) DL: 0.00 (-13) | |
| Intron 11 | c.1585-11786_1585-11779del8 | not reported | Asymptomatic:1 | - | - | |
| Intron 11 | c.1584+13403_1584+13414del12 | not reported | Asymptomatic:10 CF:5 CFTR-RD:10 Infertility:1 Pending (NBS):11 Suspicion of CF:18 | 0.165173 | - | |
| Intron 11 | c.1584+13403_1584+13416del14 | not reported | Asymptomatic:1 Pending (NBS):1 Suspicion of CF:1 | 0.000154 | - | |
| Intron 11 | c.1585-13074_1585-13063del12 | not reported | Asymptomatic:1 | - | - | |
| Exon 12 | c.1650del | 1782delA | disease-causing | - | - | |
| Exon 12 | c.1670del | 1802delC | disease-causing | - | - | |
| Exon 12 | c.1674del | 1806delA | disease-causing | - | - | |
| Exon 12 | c.1642_1643del | 1774delCT | disease-causing | - | - | |
| Exon 13 | c.1703del | 1833delT | disease-causing | - | - | |
| Intron 13 | c.1766+492_1766+511del20 | not reported | Asymptomatic:1 | - | - | |
| Exon 14 | c.1904del | disease-causing | - | - | ||
| Exon 14 | c.1911del | 2043delG | disease-causing | - | - | |
| Exon 14 | c.1981del | 2113delA | disease-causing | - | - | |
| Exon 14 | c.2012del | 2143delT | disease-causing | - | - | |
| Exon 14 | c.2045del | disease-causing | - | - | ||
| Exon 14 | c.2052del | 2184delA | disease-causing | - | - | |
| Exon 14 | c.2215del | 2347delG | disease-causing | - | - | |
| Exon 14 | c.2291del | 2423delG | disease-causing | - | - | |
| Exon 14 | c.2373del | disease-causing | - | - | ||
| Exon 14 | c.2443del | disease-causing | - | - | ||
| Exon 14 | c.2450del | disease-causing | - | - | ||
| Exon 14 | c.1792_1798del | 1924del7 | disease-causing | - | - | |
| Exon 14 | c.1820_1903del | 1949del84 | disease-causing | - | - | |
| Exon 14 | c.1986_1989del | 2118del4 ; 2116delCTAA | disease-causing | - | - | |
| Exon 14 | c.2051_2052del | 2183delAA | disease-causing | - | - | |
| Exon 14 | c.2241_2248del | 2372del8 | disease-causing | - | - | |
| Exon 14 | c.2249_2256del | 2380_2387del | disease-causing | - | - | |
| Exon 14 | c.2324_2325del | 2456delAC | disease-causing | - | - | |
| Intron 14 | c.2490+1105delA | not reported | CFTR-RD:1 | 0.01591 | AG: 0.00 (18) AL: 0.00 (21) DG: 0.00 (7) DL: 0.00 (-22) | |
| Intron 14 | c.2490+4_2490+7del | VUS | - | - | ||
| Exon 15 | c.2502del | 2634delT | disease-causing | - | - | |
| Exon 15 | c.2508del | 2640delT | disease-causing | - | - | |
| Exon 15 | c.2583del | 2711delT | disease-causing | - | - | |
| Exon 15 | c.2589_2599del | 2721del11 | disease-causing | - | - | |
| Intron 15 | c.2619+20_2619+24del | IVS14a+17del5 | VUS | - | - | |
| Intron 15 | c.2619+86_2619+87del | non disease-causing | - | - | ||
| Intron 15 | c.2619+86_2619+87delTA | non disease-causing | Asymptomatic:13 CF:4 CFTR-RD:12 Infertility:1 Pending (NBS):11 Suspicion of CF:23 | 0.439136 | AG: 0.00 (30) AL: 0.00 (36) DG: 0.00 (-46) DL: 0.00 (8) | |
| Intron 15 | c.2619+3549_2619+3556del8 | not reported | Asymptomatic:1 | - | - | |
| Intron 15 | c.2619+3757_2619+3765del9 | not reported | Suspicion of CF:1 | - | - | |
| Intron 15 | c.2620-851_2620-849delATA | not reported | Asymptomatic:11 CF:8 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:15 | 0.161761 | AG: 0.00 (-9) AL: 0.00 (46) DG: 0.00 (-5) DL: 0.00 (46) | |
| Intron 15 | c.2620-3257_2620-3256delTT | not reported | Suspicion of CF:1 | 0.015124 | AG: 0.00 (-17) AL: 0.00 (-32) DG: 0.00 (26) DL: 0.00 (-3) | |
| Exon 16 | c.2637_2644del | disease-causing | - | - | ||
| Exon 17 | c.2875del | 3007delG | disease-causing | CF:1 | - | AG: 0.00 (-43) AL: 0.00 (2) DG: 0.04 (34) DL: 0.00 (30) |
| Intron 17 | c.2909-730_2909-720del11 | not reported | Asymptomatic:1 | - | - | |
| Intron 17 | c.2908+390_2908+393delCTAT | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.049837 | AG: 0.00 (-7) AL: 0.00 (14) DG: 0.00 (25) DL: 0.00 (45) | |
| Exon 18 | c.2924_2925del | 3056delGA | disease-causing | - | - | |
| Intron 18 | c.2989-124_2989-120del5 | not reported | Asymptomatic:1 | 0.000106 | - | |
| Intron 18 | c.2989-1792_2989-1783del10 | not reported | Asymptomatic:1 | - | - | |
| Exon 19 | c.3011del | disease-causing | - | - | ||
| Exon 19 | c.3022del | 3154delG | disease-causing | - | - | |
| Exon 19 | c.3138del | VUS | - | - | ||
| Exon 19 | c.2997_3000del | 3129del4 ; 3126del4 | disease-causing | - | - | |
| Exon 19 | c.3011_3019del | 3143del9 | disease-causing | - | - | |
| Exon 19 | c.3064_3117del | 3196del54 | disease-causing | - | - | |
| Exon 19 | c.3067_3072del | 3199del6 ; 3195del6 | disease-causing | - | - | |
| Exon 19 | c.3068_3072del | 3200_3204delTAGTG | disease-causing | - | - | |
| Intron 19 | c.3139+121_3139+135del15 | not reported | Asymptomatic:1 | - | - | |
| Exon 20 | c.3180del | 3312delA | VUS | - | - | |
| Exon 20 | c.3264del | 3396delC | disease-causing | - | - | |
| Exon 20 | c.3324del | disease-causing | - | - | ||
| Exon 20 | c.3229_3230del | 3359delCT | disease-causing | - | - | |
| Intron 20 | c.3367+212_3367+259del48 | not reported | CFTR-RD:1 | - | - | |
| Intron 20 | c.3367+214_3367+259del46 | not reported | Asymptomatic:9 CF:7 CFTR-RD:9 Infertility:1 Pending (NBS):10 Suspicion of CF:5 | - | - | |
| Intron 20 | c.3367+215_3367+216delGT | not reported | Asymptomatic:3 CF:2 | 0 | AG: 0.00 (44) AL: 0.00 (48) DG: 0.00 (5) DL: 0.00 (1) | |
| Intron 20 | c.3367+215_3367+226del12 | not reported | Asymptomatic:1 | - | - | |
| Intron 20 | c.3367+215_3367+258del44 | not reported | Pending (NBS):1 | - | - | |
| Intron 20 | c.3367+246_3367+255del10 | not reported | Asymptomatic:1 | 0.008076 | - | |
| Intron 20 | c.3368-589_3368-588delTG | not reported | Asymptomatic:1 | 3.6e-05 | AG: 0.00 (8) AL: 0.00 (-28) DG: 0.00 (10) DL: 0.00 (8) | |
| Intron 20 | c.3368-1304_3368-1294del11 | not reported | Suspicion of CF:1 | - | - | |
| Exon 21 | c.3371_3373del | E1123del | VUS | - | - | |
| Exon 21 | c.3419_3421del | ΔM1140 | disease-causing | - | - | |
| Exon 21 | c.3454_3455del | VUS | - | - | ||
| Intron 21 | c.3468+146_3468+158del13 | not reported | Suspicion of CF:1 | - | - | |
| Intron 21 | c.3468+1385_3468+1393del9 | not reported | CFTR-RD:1 | - | - | |
| Intron 21 | c.3468+1239_3468+1248del10 | not reported | Suspicion of CF:1 | - | - | |
| Intron 21 | c.3468+3108_3468+3119del12 | not reported | CFTR-RD:1 | - | - | |
| Intron 21 | c.3468+4571_3468+4586del16 | not reported | CFTR-RD:1 | - | - | |
| Intron 21 | c.3469-4936_3469-4926del11 | not reported | Asymptomatic:1 | - | - | |
| Intron 21 | c.3468+4747_3468+4750delGTCT | not reported | CFTR-RD:1 | - | - | |
| Exon 22 | c.3528del | 3659delC | disease-causing | - | - | |
| Exon 22 | c.3605del | 3737delA | disease-causing | - | - | |
| Exon 22 | c.3623del | 3755delG | disease-causing | - | - | |
| Exon 22 | c.3659del | 3791delC | disease-causing | - | - | |
| Exon 22 | c.3691del | 3821delT | disease-causing | - | - | |
| Intron 22 | c.3717+53del | VUS | - | - | ||
| Exon 22 | c.3618_3619del | 3750delAG | disease-causing | - | - | |
| Intron 22 | c.3718-1296_3718-1288del9 | not reported | CF:1 | - | - | |
| Intron 22 | c.3718-6371_3718-6363del9 | not reported | Asymptomatic:1 | - | - | |
| Intron 22 | c.3718-2960_3718-2959delTG | not reported | Asymptomatic:2 CFTR-RD:1 | 0.008149 | AG: 0.00 (-16) AL: 0.00 (-22) DG: 0.00 (26) DL: 0.00 (23) | |
| Intron 22 | c.3718-3514_3718-3497del18 | not reported | Asymptomatic:1 | - | - | |
| Intron 22 | c.3718-6952_3718-6943del10 | not reported | Asymptomatic:1 | - | - | |
| Intron 22 | c.3718-5379_3718-5376delTGCC | not reported | - | - | ||
| Exon 23 | c.3747del | 3878delG | disease-causing | - | - | |
| Intron 23 | c.3874-352delT | not reported | CF:1 Suspicion of CF:1 | 0.000349 | AG: 0.00 (-27) AL: 0.00 (-43) DG: 0.00 (-1) DL: 0.00 (-28) | |
| Intron 23 | c.3874-19_3874-17del | 4006-19del3 | VUS | - | - | |
| Intron 23 | c.3873+3226_3873+3234del9 | not reported | Asymptomatic:1 | - | - | |
| Intron 23 | c.3874-1131_3874-1124del8 | not reported | Asymptomatic:1 | - | - | |
| Intron 23 | c.3873+3705_3873+3725del21 | not reported | Asymptomatic:1 | - | - | |
| Intron 23 | c.3874-3564_3874-3563delAT | not reported | Asymptomatic:3 CF:3 CFTR-RD:1 Suspicion of CF:1 | 0 | AG: 0.00 (-50) AL: 0.00 (29) DG: 0.00 (0) DL: 0.00 (-12) | |
| Exon 24 | c.3883del | 4015delA | disease-causing | - | - | |
| Exon 24 | c.3883_3886del | 4010del4 | disease-causing | - | - | |
| Intron 24 | c.3963+1556delT | not reported | CFTR-RD:1 | 0.020553 | AG: 0.00 (-25) AL: 0.00 (39) DG: 0.00 (19) DL: 0.00 (1) | |
| Intron 24 | c.3964-2060delA | not reported | Suspicion of CF:1 | 0.026785 | AG: 0.00 (-26) AL: 0.00 (3) DG: 0.00 (49) DL: 0.00 (12) | |
| Intron 24 | c.3964-4760delC | not reported | Suspicion of CF:1 | 0.0006 | AG: 0.00 (20) AL: 0.00 (-13) DG: 0.00 (11) DL: 0.00 (22) | |
| Intron 24 | c.3963+2655_3963+2663del9 | not reported | Asymptomatic:1 | - | - | |
| Intron 24 | c.3964-1615_3964-1607del9 | not reported | Asymptomatic:1 | - | - | |
| Intron 24 | c.3964-3612_3964-3605del8 | not reported | Asymptomatic:1 | - | - | |
| Intron 24 | c.3963+2135_3963+2162del28 | not reported | Asymptomatic:1 | - | - | |
| Intron 24 | c.3964-2682_3964-2681delAC | not reported | - | - | ||
| Intron 24 | c.3964-4498_3964-4488del11 | not reported | Pending (NBS):1 | - | - | |
| Exon 25 | c.4071del | disease-causing | - | - | ||
| Intron 26 | c.4243-7del | disease-causing | - | - | ||
| Intron 26 | c.4243-32del | VUS | - | - | ||
| Intron 26 | c.4243-33del | VUS | - | - | ||
| Exon 26 | c.4197_4198del | 4326delTC | disease-causing | - | - | |
| Exon 26 | c.4200_4201del | 4332delTG | disease-causing | - | - | |
| Exon 27 | c.4251del | 4382delA | disease-causing | - | - |
