The CFTR-France database has retrieved 116 STOP CODONS, which are displayed below:



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





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