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The CFTR-NGS catalog has retrieved 98 REPEATS, which are displayed below:
| #Exon/intron | Name (HGVS) | Legacy name | Class in CFTR-France | Report in CFTR-NGS | MAF (GnomAD) | Splicing prediction (SpliceAI) |
|---|---|---|---|---|---|---|
| Intron 1 | c.53+3384delA | not reported | Asymptomatic:1 | 7e-06 | AG: 0.00 (29) AL: 0.00 (-31) DG: 0.00 (43) DL: 0.00 (47) | |
| Intron 1 | c.53+3600dupT | not reported | CFTR-RD:1 | 0.000589 | AG: 0.00 (17) AL: 0.00 (25) DG: 0.00 (-33) DL: 0.00 (-25) | |
| Intron 1 | c.53+8923dupA | not reported | Suspicion of CF:1 | 0.000187 | AG: 0.00 (-4) AL: 0.00 (13) DG: 0.00 (-50) DL: 0.00 (12) | |
| Intron 1 | c.54-3950dupT | not reported | Suspicion of CF:1 | - | - | |
| Intron 1 | c.54-5422dupT | not reported | Asymptomatic:11 CF:7 CFTR-RD:12 Infertility:1 Pending (NBS):10 Suspicion of CF:7 | 0.007614 | AG: 0.00 (32) AL: 0.00 (22) DG: 0.00 (22) DL: 0.00 (16) | |
| Intron 1 | c.54-7344dupT | not reported | Asymptomatic:1 Suspicion of CF:1 | 0.007666 | AG: 0.00 (-36) AL: 0.00 (-16) DG: 0.00 (-5) DL: 0.00 (-36) | |
| Intron 1 | c.54-8089dupT | not reported | Asymptomatic:13 CF:13 CFTR-RD:11 Pending (NBS):13 Suspicion of CF:13 | 0.130053 | AG: 0.00 (31) AL: 0.00 (41) DG: 0.00 (-48) DL: 0.00 (33) | |
| Intron 1 | c.54-11104dupA | not reported | Suspicion of CF:1 | 2.8e-05 | AG: 0.00 (4) AL: 0.00 (-6) DG: 0.00 (-9) DL: 0.00 (-3) | |
| Intron 1 | c.54-2489_54-2482dup8 | not reported | Suspicion of CF:1 | 0.026059 | AG: 0.00 (-28) AL: 0.00 (3) DG: 0.00 (-15) DL: 0.00 (0) | |
| Intron 1 | c.54-2484_54-2482dupAAA | not reported | Suspicion of CF:2 | 0.000655 | - | |
| Intron 2 | c.164+410dupA | not reported | Asymptomatic:1 CF:2 CFTR-RD:4 | 0.14979 | AG: 0.00 (2) AL: 0.00 (14) DG: 0.00 (-26) DL: 0.00 (13) | |
| Intron 2 | c.164+507dupT | not reported | Asymptomatic:1 CF:1 CFTR-RD:2 | 0.011745 | AG: 0.00 (35) AL: 0.00 (37) DG: 0.00 (37) DL: 0.00 (16) | |
| Intron 2 | c.164+409_164+410dupAA | not reported | Asymptomatic:2 CFTR-RD:3 Suspicion of CF:2 | 0.188819 | - | |
| Intron 3 | c.273+4309dupA | not reported | Asymptomatic:22 CF:13 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:13 | 0.535081 | AG: 0.00 (-43) AL: 0.00 (-33) DG: 0.00 (-38) DL: 0.00 (-34) | |
| Intron 3 | c.273+5039dupT | not reported | Asymptomatic:4 CF:2 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:3 | 0.104937 | AG: 0.00 (44) AL: 0.00 (45) DG: 0.00 (44) DL: 0.00 (49) | |
| Intron 3 | c.273+7101delT | not reported | CF:2 | 0.00119 | AG: 0.00 (-7) AL: 0.00 (-25) DG: 0.00 (-8) DL: 0.00 (-27) | |
| Intron 3 | c.274-6492dupA | not reported | Asymptomatic:12 CF:6 CFTR-RD:12 Pending (NBS):9 Suspicion of CF:7 | 0.024286 | AG: 0.00 (25) AL: 0.00 (-13) DG: 0.00 (25) DL: 0.00 (36) | |
| Intron 3 | c.274-7505dupT | not reported | Asymptomatic:19 CF:11 CFTR-RD:16 Pending (NBS):17 Suspicion of CF:9 | 0.232013 | AG: 0.00 (41) AL: 0.00 (21) DG: 0.00 (-1) DL: 0.00 (21) | |
| Intron 3 | c.274-10617dupT | not reported | Suspicion of CF:2 | 0.019693 | AG: 0.00 (44) AL: 0.00 (-48) DG: 0.00 (-5) DL: 0.00 (-20) | |
| Intron 4 | c.489+240dupT | not reported | Asymptomatic:1 | 0.00048 | AG: 0.00 (0) AL: 0.00 (1) DG: 0.00 (0) DL: 0.00 (1) | |
| Intron 6 | c.743+136dupT | not reported | Asymptomatic:3 CF:1 CFTR-RD:6 Pending (NBS):5 Suspicion of CF:3 | - | - | |
| Intron 6 | c.744-33GATT[4] | VUS | - | - | ||
| Intron 6 | c.744-33GATT[6] | TTGA repeats | non disease-causing | - | - | |
| Intron 6 | c.744-33GATT[7] | TTGA repeats | non disease-causing | - | - | |
| Intron 6 | c.744-33GATT[8] | TTGA repeats | non disease-causing | - | - | |
| Intron 6 | c.744-9_744-6delGATT | TTGA repeats | not reported | Asymptomatic:15 CF:14 CFTR-RD:13 Pending (NBS):15 Suspicion of CF:16 | 7e-06 | AG: 0.05 (6) AL: 0.01 (2) DG: 0.00 (6) DL: 0.00 (34) |
| Intron 6 | c.743+135_743+136dupTT | not reported | Suspicion of CF:1 | - | AG: 0.00 (30) AL: 0.00 (-50) DG: 0.00 (30) DL: 0.00 (-21) | |
| Intron 7 | c.870-668dupT | not reported | CF:1 CFTR-RD:1 | 0.050266 | AG: 0.00 (28) AL: 0.00 (26) DG: 0.00 (0) DL: 0.00 (-1) | |
| Intron 9 | c.1210-12T[3] | 1342-11TTT>G | disease-causing | - | - | |
| Intron 9 | c.1210-12T[5] | poly-T tract variations | disease-causing | - | - | |
| Intron 9 | c.1210-12T[6] | VUS | - | - | ||
| Intron 9 | c.1210-12T[7] | poly-T tract variations | non disease-causing | - | - | |
| Intron 9 | c.1210-12T[8] | VUS | - | - | ||
| Intron 9 | c.1210-12T[9] | poly-T tract variations ; 1342-13G/T | non disease-causing | - | - | |
| Intron 9 | c.1210-12T[11] | VUS | - | - | ||
| Intron 9 | c.1210-34TG[9] | non disease-causing | - | - | ||
| Intron 9 | c.1210-2832dupT | not reported | CFTR-RD:1 | 0.040107 | AG: 0.00 (42) AL: 0.00 (44) DG: 0.00 (17) DL: 0.00 (15) | |
| Intron 9 | c.1210-34TG[10] | 1342-12(GT)n | non disease-causing | - | - | |
| Intron 9 | c.1210-34TG[11] | 1342-12(GT)n | non disease-causing | - | - | |
| Intron 9 | c.1210-34TG[12] | 1342-12(GT)n | non disease-causing | - | - | |
| Intron 9 | c.1210-34TG[13] | 1342-11TTT>G | non disease-causing | - | - | |
| Intron 9 | c.1210-34_1210-6TG[8]T[7] | TG8T7 | non disease-causing | - | - | |
| Intron 9 | c.1210-34_1210-6TG[9]T[7] | TG9T7 | non disease-causing | - | - | |
| Intron 9 | c.1210-34_1210-6TG[9]T[9] | TG9T9 | non disease-causing | - | - | |
| Intron 9 | c.1210-34_1210-6TG[10]T[7] | TG10T7 | non disease-causing | - | - | |
| Intron 9 | c.1210-34_1210-6TG[10]T[8] | TG10T8 | VUS | - | - | |
| Intron 9 | c.1210-34_1210-6TG[10]T[9] | TG10T9 | non disease-causing | - | - | |
| Intron 9 | c.1210-34_1210-6TG[11]T[5] | TG11T5 | VUS | - | - | |
| Intron 9 | c.1210-34_1210-6TG[11]T[7] | TG11T7 | non disease-causing | - | - | |
| Intron 9 | c.1210-34_1210-6TG[11]T[9] | TG11T9 | non disease-causing | - | - | |
| Intron 9 | c.1210-34_1210-6TG[12]T[3] | TG12T3 | disease-causing | - | - | |
| Intron 9 | c.1210-34_1210-6TG[12]T[5] | TG12T5 | disease-causing | - | - | |
| Intron 9 | c.1210-34_1210-6TG[12]T[6] | TG12T6 | VUS | - | - | |
| Intron 9 | c.1210-34_1210-6TG[12]T[7] | TG12T7 | non disease-causing | - | - | |
| Intron 9 | c.1210-34_1210-6TG[12]T[9] | TG12T9 | non disease-causing | - | - | |
| Intron 9 | c.1210-34_1210-6TG[13]T[5] | TG13T5 | disease-causing | - | - | |
| Intron 9 | c.1210-34_1210-6TG[13]T[6] | TG13T6 | VUS | - | - | |
| Intron 9 | c.1210-34_1210-6TG[13]T[7] | TG13T7 | non disease-causing | - | - | |
| Intron 9 | c.1210-34_1210-6TG[15]T[7] | TG15T7 | VUS | - | - | |
| Intron 9 | c.1210-34_1210-6TG[9]T[11] | TG9T11 | VUS | - | - | |
| Intron 10 | c.1392+1520dupA | not reported | Asymptomatic:5 CF:5 CFTR-RD:4 Pending (NBS):5 Suspicion of CF:4 | 0.035396 | AG: 0.00 (-15) AL: 0.00 (-3) DG: 0.00 (-25) DL: 0.00 (-11) | |
| Intron 10 | c.1393-2942_1393-2927del16 | not reported | Suspicion of CF:1 | - | - | |
| Intron 10 | c.1393-2929_1393-2927delTTT | not reported | Asymptomatic:1 | - | - | |
| Intron 11 | c.1585-953dupT | not reported | Asymptomatic:3 CF:2 CFTR-RD:8 Pending (NBS):3 Suspicion of CF:5 | 0.000872 | AG: 0.00 (16) AL: 0.00 (15) DG: 0.00 (-33) DL: 0.00 (15) | |
| Intron 11 | c.1584+1000delT | not reported | Asymptomatic:1 | 0.001404 | AG: 0.00 (2) AL: 0.00 (13) DG: 0.00 (44) DL: 0.00 (13) | |
| Intron 11 | c.1584+1000dupT | not reported | Asymptomatic:1 CFTR-RD:2 Pending (NBS):2 Suspicion of CF:1 | 0.000238 | AG: 0.00 (13) AL: 0.00 (1) DG: 0.00 (13) DL: 0.00 (1) | |
| Intron 11 | c.1584+1664delT | not reported | Asymptomatic:6 CF:1 CFTR-RD:5 Pending (NBS):1 Suspicion of CF:3 | 0.188008 | AG: 0.00 (-17) AL: 0.00 (-41) DG: 0.00 (47) DL: 0.00 (45) | |
| Intron 11 | c.1584+6959dupA | not reported | Asymptomatic:14 CF:9 CFTR-RD:12 Pending (NBS):9 Suspicion of CF:6 | 0.109402 | AG: 0.00 (49) AL: 0.00 (28) DG: 0.00 (-39) DL: 0.00 (-46) | |
| Intron 11 | c.1585-2810delT | not reported | Asymptomatic:2 CFTR-RD:2 Pending (NBS):2 | 0.00021 | AG: 0.00 (47) AL: 0.00 (1) DG: 0.00 (-26) DL: 0.00 (47) | |
| Intron 11 | c.1585-3710dupT | not reported | CFTR-RD:1 | - | AG: 0.00 (28) AL: 0.00 (-44) DG: 0.00 (20) DL: 0.00 (-1) | |
| Intron 11 | c.1585-4086delT | not reported | Asymptomatic:7 CFTR-RD:5 Pending (NBS):3 Suspicion of CF:5 | 0 | AG: 0.00 (50) AL: 0.00 (42) DG: 0.00 (-10) DL: 0.00 (-6) | |
| Intron 11 | c.1585-4416dupC | not reported | Asymptomatic:1 | 0.019245 | AG: 0.00 (-7) AL: 0.00 (-30) DG: 0.00 (-12) DL: 0.00 (-30) | |
| Intron 11 | c.1585-8054dupA | not reported | Asymptomatic:19 CF:10 CFTR-RD:17 Infertility:1 Pending (NBS):15 Suspicion of CF:9 | 0.004612 | AG: 0.00 (-13) AL: 0.00 (40) DG: 0.00 (-28) DL: 0.00 (-22) | |
| Intron 11 | c.1584+10552dupA | not reported | Asymptomatic:1 CFTR-RD:1 Suspicion of CF:1 | 0.020803 | AG: 0.00 (-24) AL: 0.00 (-42) DG: 0.00 (-24) DL: 0.00 (-18) | |
| Intron 11 | c.1584+12338dupT | not reported | Asymptomatic:24 CF:18 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:29 | 0.411678 | AG: 0.00 (37) AL: 0.00 (35) DG: 0.00 (37) DL: 0.00 (-28) | |
| Intron 11 | c.1585-4087_1585-4086delTT | not reported | Asymptomatic:1 CF:1 CFTR-RD:1 | - | - | |
| Intron 11 | c.1585-2813_1585-2810delTTTT | not reported | Asymptomatic:2 CFTR-RD:1 | - | - | |
| Intron 15 | c.2619+2767dupA | not reported | CFTR-RD:1 Pending (NBS):1 | 0.003788 | AG: 0.00 (-27) AL: 0.00 (28) DG: 0.00 (-42) DL: 0.00 (42) | |
| Intron 15 | c.2620-1307delT | not reported | CFTR-RD:1 | 7e-06 | AG: 0.00 (-13) AL: 0.00 (-42) DG: 0.00 (-13) DL: 0.00 (50) | |
| Intron 18 | c.2989-81delA | not reported | Asymptomatic:1 | - | - | |
| Intron 18 | c.2989-81dupA | not reported | Asymptomatic:1 CFTR-RD:1 Pending (NBS):1 | 0.020464 | AG: 0.00 (32) AL: 0.00 (43) DG: 0.00 (-46) DL: 0.00 (-6) | |
| Intron 18 | c.2988+1465delT | not reported | Asymptomatic:4 CF:1 Suspicion of CF:1 | 7e-06 | AG: 0.00 (-19) AL: 0.00 (43) DG: 0.00 (-29) DL: 0.00 (43) | |
| Intron 18 | c.2989-82_2989-81delAA | not reported | Asymptomatic:1 | - | - | |
| Intron 21 | c.3468+1532dupT | not reported | Asymptomatic:29 CF:18 CFTR-RD:23 Infertility:2 Pending (NBS):17 Suspicion of CF:19 | 0.99235 | AG: 0.00 (22) AL: 0.00 (13) DG: 0.00 (-21) DL: 0.00 (-31) | |
| Intron 21 | c.3468+5372delT | not reported | Asymptomatic:5 CF:4 CFTR-RD:2 Suspicion of CF:3 | 2.8e-05 | AG: 0.00 (-40) AL: 0.00 (-43) DG: 0.00 (12) DL: 0.00 (-33) | |
| Intron 21 | c.3468+5371_3468+5372delTT | not reported | CF:1 CFTR-RD:1 | - | - | |
| Intron 22 | c.3717+4799dupA | not reported | Asymptomatic:1 CFTR-RD:1 Suspicion of CF:1 | 0.023251 | AG: 0.00 (-15) AL: 0.00 (14) DG: 0.00 (-15) DL: 0.00 (-21) | |
| Intron 22 | c.3717+5885dupT | not reported | Infertility:1 Pending (NBS):1 Suspicion of CF:1 | 0.000844 | AG: 0.00 (-2) AL: 0.00 (42) DG: 0.00 (-32) DL: 0.00 (-30) | |
| Intron 22 | c.3718-4552dupA | not reported | Asymptomatic:1 | - | AG: 0.00 (12) AL: 0.00 (-32) DG: 0.00 (-23) DL: 0.00 (35) | |
| Intron 22 | c.3718-5203dupT | not reported | Asymptomatic:14 CF:7 CFTR-RD:12 Infertility:1 Pending (NBS):10 Suspicion of CF:10 | 0.398895 | AG: 0.00 (23) AL: 0.00 (49) DG: 0.00 (-3) DL: 0.00 (-6) | |
| Intron 22 | c.3718-5607dupT | not reported | Asymptomatic:2 CFTR-RD:1 | 0.007389 | AG: 0.00 (23) AL: 0.00 (0) DG: 0.00 (23) DL: 0.00 (-31) | |
| Intron 22 | c.3718-5204_3718-5203dupTT | not reported | Asymptomatic:1 | 0.085426 | - | |
| Intron 23 | c.3873+1477dupT | not reported | Asymptomatic:1 | 0.053074 | AG: 0.00 (-7) AL: 0.00 (37) DG: 0.00 (-7) DL: 0.00 (-20) | |
| Intron 23 | c.3873+1837dupA | not reported | Asymptomatic:1 | 0.053416 | AG: 0.00 (-8) AL: 0.00 (36) DG: 0.00 (-36) DL: 0.00 (-31) | |
| Intron 23 | c.3873+5101delA | not reported | Asymptomatic:1 | 0 | AG: 0.00 (15) AL: 0.00 (29) DG: 0.00 (33) DL: 0.00 (5) | |
| Intron 23 | c.3873+5101dupA | not reported | Asymptomatic:1 CFTR-RD:2 | 0.000432 | AG: 0.00 (29) AL: 0.00 (9) DG: 0.00 (4) DL: 0.00 (5) | |
| Intron 24 | c.3964-1161dupA | not reported | CF:3 CFTR-RD:1 | 0.00863 | AG: 0.00 (-1) AL: 0.00 (23) DG: 0.00 (-34) DL: 0.00 (-30) | |
| Intron 24 | c.3964-2682dupA | not reported | CFTR-RD:1 Suspicion of CF:1 | - | - |
