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CFTR- France & CFTR-NGS catalog have retrieved 116 STOP CODONS, 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.4C>T | Q2X (together with R3W) | disease-causing | CF:2 CFTR-RD:1 | - | - | |
| Exon 1 | c.11C>A | S4X | disease-causing | CF:3 | - | - | |
| Exon 1 | c.40A>T | K14X | disease-causing | CF:2 | - | - | |
| Exon 2 | c.57G>A | W19X | disease-causing | - | - | ||
| Exon 2 | c.79G>T | G27X | disease-causing | CF:1 | - | - | |
| Exon 2 | c.154A>T | K52X | disease-causing | - | - | ||
| Exon 3 | c.170G>A | W57X(TAG) | disease-causing | - | - | ||
| Exon 3 | c.171G>A | W57X(TGA) | disease-causing | CF:4 | - | - | |
| Exon 3 | c.178G>T | E60X | disease-causing | CF:15 CFTR-RD:4 Pending:1 | - | - | |
| Exon 3 | c.223C>T | R75X | disease-causing | CF:4 CFTR-RD:1 Fetal bowel anomalies:1 | - | - | |
| Exon 3 | c.236G>A | W79X | disease-causing | CF:2 | - | - | |
| Exon 3 | c.263T>G | L88X | disease-causing | CFTR-RD:1 | - | - | |
| Exon 4 | c.274G>T | E92X | disease-causing | - | - | ||
| Exon 4 | c.327T>A | Y109X | disease-causing | CF:1 | - | - | |
| Exon 4 | c.366T>A | Y122X | disease-causing | Asymptomatic:2 CF:31 CFTR-RD:10 Fetal bowel anomalies:2 Pending:5 | - | - | |
| Exon 5 | c.577G>T | E193X | disease-causing | CF:2 | - | - | |
| Exon 6 | c.619C>T | Q207X | disease-causing | - | - | ||
| Exon 6 | c.647G>A | W216X | disease-causing | CF:1 | - | - | |
| Exon 6 | c.658C>T | Q220X | disease-causing | CF:16 CFTR-RD:1 Fetal bowel anomalies:1 | - | - | |
| Exon 7 | c.769G>T | E257X | disease-causing | CFTR-RD:1 | - | - | |
| Exon 7 | c.808C>T | Q270X | disease-causing | Asymptomatic:1 CFTR-RD:1 | - | - | |
| Exon 7 | c.825C>G | Y275X | disease-causing | CF:1 | - | - | |
| Exon 7 | c.868C>T | Q290X | disease-causing | CF:2 CFTR-RD:2 | - | - | |
| Exon 8 | c.874G>T | E292X | disease-causing | CF:1 | - | - | |
| Exon 8 | c.912C>G | Y304X | disease-causing | CF:3 | - | - | |
| Exon 8 | c.959T>A | L320X | disease-causing | CF:1 | - | - | |
| Exon 8 | c.1029del | 1161delC | disease-causing | CF:4 | - | - | |
| Exon 8 | c.1057C>T | Q353X | disease-causing | Asymptomatic:1 | - | - | |
| Exon 9 | c.1202G>A | W401X(TAG) | disease-causing | CFTR-RD:1 | - | - | |
| Exon 9 | c.1203G>A | W401X(TGA) | disease-causing | CF:4 | - | - | |
| Exon 10 | c.1240C>T | Q414X | disease-causing | CF:1 | - | - | |
| Exon 10 | c.1248dup | N417X | disease-causing | CF:1 | - | - | |
| Exon 10 | c.1330_1331del | 1460delAT | disease-causing | CF:1 | - | - | |
| Exon 11 | c.1397C>A | S466X(TAA) | disease-causing | - | - | ||
| Exon 11 | c.1397C>G | S466X(TAG) | disease-causing | CF:5 | - | - | |
| Exon 11 | c.1466C>A | S489X | disease-causing | CF:3 CFTR-RD:1 | - | - | |
| Exon 11 | c.1477C>T | Q493X | disease-causing | CF:9 CFTR-RD:3 | - | - | |
| Exon 11 | c.1573C>T | Q525X | disease-causing | CF:1 | - | - | |
| Exon 11 | c.1545_1546del | 1677delTA | disease-causing | Asymptomatic:1 CF:8 CFTR-RD:3 | - | - | |
| Exon 12 | c.1624G>T | G542X | disease-causing | Asymptomatic:1 CF:1 CFTR-RD:1 | Asymptomatic:1 CF:163 CFTR-RD:46 Fetal bowel anomalies:4 Pending:12 | 0.000286 | AG: 0.00 (-46) AL: 0.13 (-39) DG: 0.00 (-47) DL: 0.00 (27) |
| Exon 12 | c.1654C>T | Q552X | disease-causing | CF:1 | - | - | |
| Exon 12 | c.1657C>T | R553X | disease-causing | Asymptomatic:1 CFTR-RD:1 Pending (NBS):2 Suspicion of CF:1 | Asymptomatic:1 CF:56 CFTR-RD:19 Fetal bowel anomalies:2 Pending:3 | 0.000126 | AG: 0.00 (22) AL: 0.00 (-5) DG: 0.00 (-6) DL: 0.21 (22) |
| Exon 12 | c.1616_1617dup | 1749insTA | disease-causing | CF:1 | - | - | |
| Exon 13 | c.1707T>A | Y569X | disease-causing | CF:1 | - | - | |
| Exon 13 | c.1753G>T | E585X | disease-causing | CF:10 CFTR-RD:1 Fetal bowel anomalies:1 Pending:2 | - | - | |
| Exon 14 | c.1792A>T | K598X | disease-causing | CF:1 | - | - | |
| Exon 14 | c.1900C>T | Q634X | disease-causing | - | - | ||
| Exon 14 | c.1966G>T | E656X | disease-causing | CF:2 | - | - | |
| Exon 14 | c.1990G>T | E664X | disease-causing | CF:2 | - | - | |
| Exon 14 | c.2012del | 2143delT | disease-causing | CF:5 | - | - | |
| Exon 14 | c.2017G>T | G673X | disease-causing | CF:2 | - | - | |
| Exon 14 | c.2065C>T | Q689X | disease-causing | CF:1 | - | - | |
| Exon 14 | c.2125C>T | R709X | disease-causing | CF:6 CFTR-RD:3 | - | - | |
| Exon 14 | c.2128A>T | K710X | disease-causing | Asymptomatic:1 CF:11 CFTR-RD:2 | - | - | |
| Exon 14 | c.2195T>G | L732X | disease-causing | CF:3 CFTR-RD:1 | - | - | |
| Exon 14 | c.2233G>T | G745X(Gly745X) | disease-causing | CF:3 | - | - | |
| Exon 14 | c.2290C>T | R764X | disease-causing | CF:6 CFTR-RD:3 | - | - | |
| Exon 14 | c.2299C>T | Q767X | disease-causing | CF:1 | - | - | |
| Exon 14 | c.2327C>G | S776X | disease-causing | Suspicion of CF:1 | CF:1 | - | AG: 0.02 (-40) AL: 0.00 (3) DG: 0.00 (1) DL: 0.00 (11) |
| Exon 14 | c.2353C>T | R785X | disease-causing | CF:4 CFTR-RD:1 | - | - | |
| Exon 14 | c.2374C>T | R792X | disease-causing | CF:10 Fetal bowel anomalies:1 | - | - | |
| Exon 14 | c.2464G>T | E822X | disease-causing | CF:1 | - | - | |
| Exon 14 | c.2479G>T | E827X | disease-causing | CF:3 | - | - | |
| Exon 14 | c.2488A>T | K830X | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 14 | c.2145_2146delinsGT | K716X | disease-causing | CF:1 | - | - | |
| Exon 15 | c.2491G>T | E831X | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 15 | c.2496C>A | C832X | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 15 | c.2502dup | 2634insT | disease-causing | CF:3 | - | - | |
| Exon 15 | c.2537G>A | W846X | disease-causing | CF:1 Pending:1 | - | - | |
| Exon 15 | c.2538G>A | W846X (2670TGG>TGA) | disease-causing | CF:26 CFTR-RD:3 Pending:3 | - | - | |
| Exon 15 | c.2547C>A | Y849X | disease-causing | - | - | ||
| Exon 15 | c.2551C>T | R851X | disease-causing | CF:2 CFTR-RD:2 | - | - | |
| Exon 15 | c.2556T>G | Y852X | disease-causing | - | - | ||
| Exon 15 | c.2600T>A | L867X | disease-causing | - | - | ||
| Exon 16 | c.2645G>A | W882X | disease-causing | CF:2 | - | - | |
| Exon 17 | c.2668C>T | Q890X | disease-causing | CF:2 | - | - | |
| Exon 17 | c.2735C>A | S912X | disease-causing | CF:1 | - | - | |
| Exon 17 | c.2739T>A | Y913X | disease-causing | CFTR-RD:1 | - | - | |
| Exon 17 | c.2737_2738insG | 2869insG | disease-causing | CF:1 CFTR-RD:5 Pending:1 | - | - | |
| Exon 19 | c.3124C>T | Q1042X | disease-causing | CF:1 Fetal bowel anomalies:1 | - | - | |
| Exon 19 | c.2997_3000del | 3129del4 ; 3126del4 | disease-causing | CF:1 Fetal bowel anomalies:1 | - | - | |
| Exon 20 | c.3189G>A | W1063X | disease-causing | CF:3 | - | - | |
| Exon 20 | c.3211C>T | Q1071X | disease-causing | CFTR-RD:1 | - | - | |
| Exon 20 | c.3266G>A | W1089X | disease-causing | CF:2 CFTR-RD:1 | - | - | |
| Exon 20 | c.3276C>A | Y1092X(C>A) | disease-causing | CF:22 CFTR-RD:8 | - | - | |
| Exon 20 | c.3276C>G | Y1092X(C>G) | disease-causing | - | - | ||
| Exon 20 | c.3293G>A | W1098X(TAG) | disease-causing | - | - | ||
| Exon 20 | c.3294G>A | W1098X(TGA) | disease-causing | CF:2 | - | - | |
| Exon 20 | c.3304A>T | R1102X | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 20 | c.3310G>T | E1104X | disease-causing | CF:11 CFTR-RD:1 | - | - | |
| Exon 21 | c.3382A>T | R1128X | disease-causing | - | - | ||
| Exon 22 | c.3472C>T | R1158X | disease-causing | CF:1 | CF:7 CFTR-RD:1 Pending:2 | 2.8e-05 | AG: 0.00 (11) AL: 0.00 (-3) DG: 0.00 (-3) DL: 0.04 (45) |
| Exon 22 | c.3484C>T | R1162X | disease-causing | Asymptomatic:1 CF:26 CFTR-RD:4 Fetal bowel anomalies:1 Pending:2 | - | - | |
| Exon 22 | c.3492dup | K1165X | disease-causing | - | - | ||
| Exon 22 | c.3587C>G | S1196X | disease-causing | CF:1 | - | - | |
| Exon 22 | c.3611G>A | W1204X(3743G>A) | disease-causing | CF:3 Fetal bowel anomalies:1 Pending:1 | - | - | |
| Exon 22 | c.3612G>A | W1204X(3744G>A) | disease-causing | - | - | ||
| Exon 22 | c.3617C>A | S1206X(C>A) | disease-causing | CF:4 | - | - | |
| Exon 22 | c.3617C>G | S1206X | disease-causing | - | - | ||
| Exon 22 | c.3712C>T | Q1238X | disease-causing | CF:1 | - | - | |
| Exon 23 | c.3822G>A | W1274X | disease-causing | CF:1 | - | - | |
| Exon 23 | c.3838C>T | Q1280X | disease-causing | CF:1 | - | - | |
| Exon 23 | c.3846G>A | W1282X | disease-causing | Asymptomatic:1 CFTR-RD:1 | Asymptomatic:1 CF:57 CFTR-RD:20 Fetal bowel anomalies:2 | 0.000335 | AG: 0.00 (27) AL: 0.00 (-2) DG: 0.00 (-35) DL: 0.01 (27) |
| Exon 24 | c.3937C>T | Q1313X | disease-causing | CF:5 CFTR-RD:1 Pending:1 | - | - | |
| Exon 25 | c.4051A>T | K1351X | disease-causing | CF:1 | - | - | |
| Exon 25 | c.4054C>T | Q1352X | disease-causing | CF:1 | - | - | |
| Exon 25 | c.4086dup | 4218insT | disease-causing | CF:1 | - | - | |
| Exon 26 | c.4144C>T | Q1382X | disease-causing | CF:1 | - | - | |
| Exon 26 | c.4168C>T | Q1390X | disease-causing | CF:1 | - | - | |
| Exon 26 | c.4231C>T | Q1411X | disease-causing | CF:1 CFTR-RD:1 Fetal bowel anomalies:1 | - | - | |
| Exon 26 | c.4234C>T | Q1412X | disease-causing | CF:1 | - | - | |
| Exon 26 | c.4197_4198del | 4326delTC | disease-causing | CF:1 | - | - | |
| Exon 26 | c.4200_4201del | 4332delTG | disease-causing | CF:1 CFTR-RD:3 | - | - | |
| Exon 27 | c.4364C>G | S1455X | disease-causing | CFTR-RD:1 | - | - | |
| Exon 27 | c.4417G>T | E1473X | VUS | CFTR-RD:1 | - | - | |
| Exon 27 | c.4426C>T | Q1476X | disease-causing | Asymptomatic:1 CF:1 CFTR-RD:10 Pending:1 | - | - |