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CFTR- France & CFTR-NGS catalog have retrieved 536 MISSENSES, 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.7A>T | Q2X (together with R3W) | VUS | - | - | ||
| Exon 1 | c.8G>T | R3M | VUS | Asymptomatic:1 | - | - | |
| Exon 1 | c.14C>T | P5L | disease-causing | CF:1 CFTR-RD:2 Pending:2 | - | - | |
| Exon 1 | c.26C>T | VUS | CF:1 | - | - | ||
| Exon 1 | c.31G>A | 163G/A | VUS | CFTR-RD:1 | - | - | |
| Exon 1 | c.37T>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 1 | c.38C>T | S13F | disease-causing | CF:1 | - | - | |
| Exon 1 | c.44T>C | L15P | disease-causing | - | - | ||
| Exon 2 | c.57G>T | W19C | VUS | - | - | ||
| Exon 2 | c.79G>A | G27R | disease-causing | - | - | ||
| Exon 2 | c.79G>C | G27R(211G to C) | VUS | CF:1 | - | - | |
| Exon 2 | c.80G>A | G27E | VUS | CF:1 | - | - | |
| Exon 2 | c.91C>T | R31C ; 223C/T | VUS | CFTR-RD:1 Pending (NBS):1 | Asymptomatic:4 CF:2 CFTR-RD:9 Pending:1 | 0.001187 | AG: 0.00 (-34) AL: 0.00 (-37) DG: 0.00 (-17) DL: 0.00 (10) |
| Exon 2 | c.92G>T | R31L | VUS | - | - | ||
| Exon 2 | c.95T>C | VUS | CF:1 | - | - | ||
| Exon 2 | c.106G>A | D36N | VUS | Fetal bowel anomalies:1 | - | - | |
| Exon 2 | c.122C>G | P41R | VUS | Asymptomatic:1 | - | - | |
| Exon 2 | c.125C>T | S42F | VUS | CFTR-RD:2 | - | - | |
| Exon 2 | c.131A>G | D44G | disease-causing | CF:2 | - | - | |
| Exon 2 | c.137C>A | A46D | disease-causing | CF:3 CFTR-RD:2 | - | - | |
| Exon 2 | c.137C>T | A46V | VUS | - | - | ||
| Exon 2 | c.148T>C | S50P | disease-causing | CF:1 | - | - | |
| Exon 2 | c.157T>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 2 | c.164G>A | R55K | VUS | CFTR-RD:1 | - | - | |
| Exon 3 | c.166G>A | E56K | disease-causing | Asymptomatic:1 CFTR-RD:9 | - | - | |
| Exon 3 | c.169T>G | W57G | disease-causing | CF:2 | - | - | |
| Exon 3 | c.173A>G | D58G | VUS | CFTR-RD:1 | - | - | |
| Exon 3 | c.178G>A | E60K | disease-causing | CF:2 | - | - | |
| Exon 3 | c.200C>T | P67L | disease-causing | Asymptomatic:1 CF:1 | - | - | |
| Exon 3 | c.202A>G | K68E | VUS | Fetal bowel anomalies:1 | - | - | |
| Exon 3 | c.215C>A | A72D | VUS | CFTR-RD:1 | - | - | |
| Exon 3 | c.220C>T | R74W | disease-causing | CFTR-RD:1 Suspicion of CF:1 | Asymptomatic:9 CF:3 CFTR-RD:52 Pending:11 | 0.004335 | AG: 0.00 (42) AL: 0.00 (-43) DG: 0.00 (6) DL: 0.00 (50) |
| Exon 3 | c.221G>A | R74Q | VUS | CFTR-RD:2 Pending:1 | - | - | |
| Exon 3 | c.224G>A | R75Q | non disease-causing | CFTR-RD:1 Pending (NBS):1 | Asymptomatic:4 CF:4 CFTR-RD:30 Pending:1 | 0.018927 | AG: 0.00 (48) AL: 0.00 (-47) DG: 0.00 (-3) DL: 0.06 (49) |
| Exon 3 | c.224G>T | R75L | VUS | CFTR-RD:1 | - | - | |
| Exon 3 | c.228T>G | VUS | CFTR-RD:2 | - | - | ||
| Exon 3 | c.235T>C | W79R | VUS | CFTR-RD:1 | - | - | |
| Exon 3 | c.244A>G | M82V | VUS | CFTR-RD:1 | - | - | |
| Exon 3 | c.250T>C | Y84H | VUS | CFTR-RD:1 | - | - | |
| Exon 3 | c.254G>A | G85E | disease-causing | CF:1 | CF:30 CFTR-RD:7 Pending:1 | 5.6e-05 | AG: 0.00 (18) AL: 0.00 (-14) DG: 0.00 (-9) DL: 0.12 (19) |
| Exon 3 | c.254G>T | G85V | disease-causing | CF:2 CFTR-RD:1 | - | - | |
| Exon 3 | c.258C>G | I86M | VUS | CFTR-RD:1 | - | - | |
| Exon 3 | c.259T>C | F87L | VUS | CF:3 | - | - | |
| Exon 3 | c.266A>G | Y89C | VUS | - | - | ||
| Exon 3 | c.271G>A | G91R | disease-causing | CF:4 | - | - | |
| Exon 4 | c.274G>A | E92K | disease-causing | CF:7 CFTR-RD:4 Pending:1 | - | - | |
| Exon 4 | c.278T>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 4 | c.283A>G | VUS | CF:1 | - | - | ||
| Exon 4 | c.287C>A | A96E | VUS | Pending:1 | - | - | |
| Exon 4 | c.293A>G | Q98R | disease-causing | CF:1 | - | - | |
| Exon 4 | c.296C>G | P99R | disease-causing | CF:1 | - | - | |
| Exon 4 | c.296C>T | P99L | disease-causing | CFTR-RD:1 | - | - | |
| Exon 4 | c.298C>G | VUS | Asymptomatic:1 | - | - | ||
| Exon 4 | c.302T>C | L101S | VUS | CFTR-RD:1 | - | - | |
| Exon 4 | c.305T>C | L102P | VUS | CF:1 | - | - | |
| Exon 4 | c.314T>A | I105N | VUS | CF:1 | - | - | |
| Exon 4 | c.323C>T | S108F | disease-causing | CFTR-RD:1 | - | - | |
| Exon 4 | c.325T>A | Y109N | VUS | - | - | ||
| Exon 4 | c.326A>G | Y109C | VUS | - | - | ||
| Exon 4 | c.328G>C | D110H | disease-causing | CF:5 CFTR-RD:6 Pending:1 | - | - | |
| Exon 4 | c.330C>A | D110E | disease-causing | CF:2 | - | - | |
| Exon 4 | c.331C>G | P111A | disease-causing | - | - | ||
| Exon 4 | c.332C>T | P111L | disease-causing | CFTR-RD:2 | - | - | |
| Exon 4 | c.334G>A | VUS | - | - | |||
| Exon 4 | c.346G>A | E116K | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 4 | c.349C>G | R117G | disease-causing | CFTR-RD:2 | - | - | |
| Exon 4 | c.349C>T | R117C | disease-causing | Asymptomatic:2 CF:1 CFTR-RD:12 Fetal bowel anomalies:1 Pending:2 | - | - | |
| Exon 4 | c.350G>A | R117H | disease-causing | CF:1 CFTR-RD:1 Pending (NBS):1 Suspicion of CF:2 | Asymptomatic:10 CF:4 CFTR-RD:142 Fetal bowel anomalies:1 Pending:55 | 0.001591 | AG: 0.00 (21) AL: 0.00 (-7) DG: 0.00 (-8) DL: 0.05 (46) |
| Exon 4 | c.350G>C | R117P | VUS | CF:1 | - | - | |
| Exon 4 | c.350G>T | R117L | disease-causing | CF:2 | - | - | |
| Exon 4 | c.355A>G | I119V | VUS | Asymptomatic:1 | - | - | |
| Exon 4 | c.357C>G | I119M | VUS | CFTR-RD:1 | - | - | |
| Exon 4 | c.358G>A | A120T | VUS | CFTR-RD:1 Pending:1 | - | - | |
| Exon 4 | c.359C>T | A120V | VUS | - | - | ||
| Exon 4 | c.365A>G | Y122C | VUS | Fetal bowel anomalies:1 | - | - | |
| Exon 4 | c.377G>A | G126D | disease-causing | CF:1 | - | - | |
| Exon 4 | c.410T>G | L137R | VUS | - | - | ||
| Exon 4 | c.415C>T | VUS | CF:1 | - | - | ||
| Exon 4 | c.416A>G | H139R | disease-causing | - | - | ||
| Exon 4 | c.422C>A | A141D | VUS | CF:1 | - | - | |
| Exon 4 | c.433C>G | VUS | CFTR-RD:1 Fetal bowel anomalies:1 | - | - | ||
| Exon 4 | c.437A>G | H146R | VUS | Pending:1 | - | - | |
| Exon 4 | c.443T>C | I148T | non disease-causing | Asymptomatic:1 CF:8 CFTR-RD:7 Pending:1 | - | - | |
| Exon 4 | c.445G>A | G149R | disease-causing | CF:5 | - | - | |
| Exon 4 | c.451C>A | Q151K | VUS | CFTR-RD:2 | - | - | |
| Exon 4 | c.454A>G | M152V | disease-causing | CF:3 | - | - | |
| Exon 4 | c.454A>T | M152L | VUS | CFTR-RD:1 | - | - | |
| Exon 4 | c.472A>C | S158R | VUS | CFTR-RD:1 | - | - | |
| Exon 4 | c.472A>G | VUS | CFTR-RD:2 | - | - | ||
| Exon 4 | c.473G>A | S158N | VUS | CFTR-RD:1 | - | - | |
| Exon 4 | c.473G>C | S158T | VUS | Fetal bowel anomalies:1 | - | - | |
| Exon 4 | c.476T>C | L159S | VUS | Asymptomatic:1 CFTR-RD:1 | - | - | |
| Exon 4 | c.481T>A | Y161N | VUS | CFTR-RD:2 | - | - | |
| Exon 4 | c.481T>G | Y161D | disease-causing | - | - | ||
| Exon 4 | c.482A>C | Y161S | VUS | - | - | ||
| Exon 4 | c.487A>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 5 | c.490A>C | VUS | Pending:1 | - | - | ||
| Exon 5 | c.494T>C | L165S | disease-causing | CF:7 CFTR-RD:1 Pending:1 | - | - | |
| Exon 5 | c.500T>G | VUS | CF:2 | - | - | ||
| Exon 5 | c.508C>T | R170C | VUS | CFTR-RD:2 Pending:1 | - | - | |
| Exon 5 | c.509G>A | R170H | disease-causing | CFTR-RD:12 | - | - | |
| Exon 5 | c.523A>G | I175V | disease-causing | CF:2 | - | - | |
| Exon 5 | c.527G>T | VUS | CFTR-RD:1 | - | - | ||
| Exon 5 | c.532G>A | G178R | disease-causing | CF:9 | - | - | |
| Exon 5 | c.533G>A | G178E | VUS | - | - | ||
| Exon 5 | c.535C>A | Q179K | VUS | CFTR-RD:1 | - | - | |
| Exon 5 | c.544A>C | VUS | Pending:1 | - | - | ||
| Exon 5 | c.547C>A | L183I | VUS | CF:1 | - | - | |
| Exon 5 | c.558C>A | N186K | VUS | CF:1 CFTR-RD:2 | - | - | |
| Exon 5 | c.571T>G | disease-causing | CF:1 CFTR-RD:2 Pending:1 | - | - | ||
| Exon 5 | c.574G>A | D192N | VUS | CF:1 | - | - | |
| Exon 5 | c.575A>G | D192G | disease-causing | - | - | ||
| Exon 5 | c.577G>A | E193K | disease-causing | - | - | ||
| Exon 6 | c.580G>A | G194R | disease-causing | - | - | ||
| Exon 6 | c.581G>T | G194V | disease-causing | CFTR-RD:3 | - | - | |
| Exon 6 | c.595C>T | H199Y | disease-causing | CF:5 | - | - | |
| Exon 6 | c.596A>G | H199R | disease-causing | CF:1 Fetal bowel anomalies:2 | - | - | |
| Exon 6 | c.598T>A | F200I | disease-causing | CFTR-RD:2 | - | - | |
| Exon 6 | c.601G>A | V201M | disease-causing | CFTR-RD:1 | Asymptomatic:3 CF:3 CFTR-RD:33 Pending:7 | 0.000454 | AG: 0.00 (22) AL: 0.05 (-21) DG: 0.00 (-21) DL: 0.00 (16) |
| Exon 6 | c.609C>G | I203M | VUS | CFTR-RD:1 | - | - | |
| Exon 6 | c.613C>T | P205S | disease-causing | CF:6 CFTR-RD:3 | - | - | |
| Exon 6 | c.617T>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 6 | c.617T>G | L206W | disease-causing | Asymptomatic:2 CF:26 CFTR-RD:65 Pending:27 | - | - | |
| Exon 6 | c.618G>T | L206F | VUS | CF:1 | - | - | |
| Exon 6 | c.650A>G | E217G | VUS | Asymptomatic:2 CF:1 CFTR-RD:1 Fetal bowel anomalies:1 | - | - | |
| Exon 6 | c.674G>A | VUS | Pending:1 | - | - | ||
| Exon 6 | c.680T>C | VUS | - | - | |||
| Exon 6 | c.680T>G | L227R | disease-causing | CF:10 CFTR-RD:2 Pending:1 | - | - | |
| Exon 6 | c.695T>A | V232D | disease-causing | CF:5 CFTR-RD:8 Pending:1 | - | - | |
| Exon 6 | c.701C>A | VUS | CFTR-RD:1 | - | - | ||
| Exon 6 | c.709C>G | Q237E | disease-causing | Asymptomatic:1 CF:3 Pending:1 | - | - | |
| Exon 6 | c.710A>T | VUS | CFTR-RD:1 | - | - | ||
| Exon 6 | c.711G>C | Q237H | VUS | - | - | ||
| Exon 6 | c.715G>A | G239R | VUS | CFTR-RD:1 | - | - | |
| Exon 6 | c.721G>T | VUS | Asymptomatic:2 CFTR-RD:1 | - | - | ||
| Exon 6 | c.731T>A | M244K | VUS | CFTR-RD:1 | - | - | |
| Exon 7 | c.745G>T | D249Y | VUS | CFTR-RD:1 | - | - | |
| Exon 7 | c.772A>G | R258G | disease-causing | Asymptomatic:1 | Asymptomatic:1 CF:1 CFTR-RD:4 | 0.000112 | AG: 0.00 (-28) AL: 0.01 (-26) DG: 0.00 (-6) DL: 0.00 (5) |
| Exon 7 | c.774A>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 7 | c.794T>G | M265R | disease-causing | - | - | ||
| Exon 7 | c.837A>T | E279D | VUS | CFTR-RD:1 | - | - | |
| Exon 7 | c.846A>T | E282D | VUS | CFTR-RD:1 | - | - | |
| Exon 7 | c.859A>T | N287Y | VUS | CF:1 | - | - | |
| Exon 7 | c.861C>G | VUS | - | - | |||
| Exon 8 | c.874G>A | E292K | VUS | CF:1 | - | - | |
| Exon 8 | c.890G>A | R297Q | VUS | Asymptomatic:1 CFTR-RD:2 Pending:1 | - | - | |
| Exon 8 | c.899C>A | VUS | CFTR-RD:1 | - | - | ||
| Exon 8 | c.902A>G | Y301C | VUS | Asymptomatic:1 CFTR-RD:1 | - | - | |
| Exon 8 | c.920G>A | S307N | VUS | CFTR-RD:1 | - | - | |
| Exon 8 | c.926C>G | A309G | VUS | CFTR-RD:1 | - | - | |
| Exon 8 | c.933C>A | F311L(C->A) | disease-causing | - | - | ||
| Exon 8 | c.933C>G | F311L | disease-causing | CF:4 CFTR-RD:1 Pending:2 | - | - | |
| Exon 8 | c.941G>A | G314E | disease-causing | - | - | ||
| Exon 8 | c.941G>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 8 | c.941G>T | G314V | VUS | Asymptomatic:1 Pending:1 | - | - | |
| Exon 8 | c.958T>G | L320V | VUS | Asymptomatic:2 CFTR-RD:2 | - | - | |
| Exon 8 | c.964G>A | V322M (1096(G/A)) | VUS | Asymptomatic:2 | - | - | |
| Exon 8 | c.965T>C | V322A | VUS | - | - | ||
| Exon 8 | c.979C>G | L327V | VUS | Pending:1 | - | - | |
| Exon 8 | c.980T>G | L327R | VUS | CFTR-RD:1 | - | - | |
| Exon 8 | c.1000C>T | R334W | disease-causing | CF:27 CFTR-RD:4 Pending:2 | - | - | |
| Exon 8 | c.1001G>A | R334Q | disease-causing | CFTR-RD:1 | - | - | |
| Exon 8 | c.1001G>T | R334L | disease-causing | CFTR-RD:1 | - | - | |
| Exon 8 | c.1007T>A | I336K | disease-causing | CF:2 CFTR-RD:1 | - | - | |
| Exon 8 | c.1013C>T | T338I | disease-causing | Asymptomatic:1 CF:2 CFTR-RD:5 Pending:5 | - | - | |
| Exon 8 | c.1021T>C | S341P | disease-causing | - | - | ||
| Exon 8 | c.1037T>C | L346P | disease-causing | - | - | ||
| Exon 8 | c.1039C>T | R347C | VUS | CFTR-RD:1 | - | - | |
| Exon 8 | c.1040G>A | R347H | disease-causing | Asymptomatic:3 CF:20 CFTR-RD:16 Pending:9 | - | - | |
| Exon 8 | c.1040G>C | R347P | disease-causing | CF:27 CFTR-RD:9 Fetal bowel anomalies:1 | - | - | |
| Exon 8 | c.1040G>T | R347L | disease-causing | Asymptomatic:1 CF:2 | - | - | |
| Exon 8 | c.1043T>A | M348K | VUS | Asymptomatic:1 CF:1 CFTR-RD:1 | - | - | |
| Exon 8 | c.1046C>T | A349V | VUS | CFTR-RD:1 | - | - | |
| Exon 8 | c.1052C>G | T351S | VUS | Asymptomatic:2 CF:1 CFTR-RD:10 | - | - | |
| Exon 8 | c.1054C>G | R352G | VUS | CF:2 | - | - | |
| Exon 8 | c.1054C>T | R352W | disease-causing | CFTR-RD:7 | - | - | |
| Exon 8 | c.1055G>A | R352Q | disease-causing | CF:5 CFTR-RD:1 | - | - | |
| Exon 8 | c.1064C>T | VUS | Asymptomatic:1 | - | - | ||
| Exon 8 | c.1069G>A | A357T | VUS | Pending (NBS):1 | Pending:2 | - | AG: 0.00 (13) AL: 0.00 (0) DG: 0.03 (13) DL: 0.00 (-22) |
| Exon 8 | c.1070C>T | A357V | VUS | Pending:1 | - | - | |
| Exon 8 | c.1076A>G | Q359R | disease-causing | CF:1 | - | - | |
| Exon 8 | c.1081T>A | W361R(T>A) | VUS | - | - | ||
| Exon 8 | c.1081T>C | W361R(T>C) | disease-causing | CF:1 | - | - | |
| Exon 8 | c.1090T>C | S364P | VUS | CF:2 | - | - | |
| Exon 9 | c.1118A>G | VUS | Asymptomatic:1 | - | - | ||
| Exon 9 | c.1125A>C | L375F | VUS | CFTR-RD:1 | - | - | |
| Exon 9 | c.1135G>A | E379K | VUS | CFTR-RD:1 | - | - | |
| Exon 9 | c.1139A>G | Y380C | VUS | CFTR-RD:1 | - | - | |
| Exon 9 | c.1163C>T | T388M | VUS | CFTR-RD:1 | - | - | |
| Exon 9 | c.1175T>G | V392G | disease-causing | CF:1 | - | - | |
| Exon 9 | c.1177G>C | V393L | VUS | CFTR-RD:1 | - | - | |
| Exon 9 | c.1209G>C | E403D | disease-causing | CF:3 Pending:1 | - | - | |
| Exon 10 | c.1251C>A | N417K | not reported | Asymptomatic:19 CF:11 CFTR-RD:11 Pending (NBS):10 Suspicion of CF:10 | 0.019902 | AG: 0.00 (42) AL: 0.01 (-41) DG: 0.00 (-9) DL: 0.00 (19) | |
| Exon 10 | c.1265C>T | S422F | not reported | Asymptomatic:8 CF:4 CFTR-RD:4 Pending (NBS):2 Suspicion of CF:3 | 0.054533 | AG: 0.00 (16) AL: 0.00 (-34) DG: 0.00 (-2) DL: 0.00 (5) | |
| Exon 10 | c.1270G>A | G424S | VUS | Asymptomatic:1 CFTR-RD:1 | - | - | |
| Exon 10 | c.1312A>G | T438A | not reported | Asymptomatic:7 CF:2 Pending (NBS):2 Suspicion of CF:2 | 0.054379 | AG: 0.00 (-31) AL: 0.00 (34) DG: 0.00 (-31) DL: 0.00 (-3) | |
| Exon 10 | c.1315C>T | P439S | VUS | CFTR-RD:1 | - | - | |
| Exon 10 | c.1327G>T | D443Y | disease-causing | Asymptomatic:5 CFTR-RD:63 Pending:3 | - | - | |
| Exon 10 | c.1331T>C | I444T | VUS | CFTR-RD:3 | - | - | |
| Exon 10 | c.1355A>C | Q452P | VUS | CF:2 Pending:1 | - | - | |
| Exon 10 | c.1358T>C | L453S | disease-causing | - | - | ||
| Exon 10 | c.1364C>A | A455E | disease-causing | CF:26 CFTR-RD:4 Pending:1 | - | - | |
| Exon 10 | c.1364C>T | A455V | VUS | Pending:1 | - | - | |
| Exon 10 | c.1366G>T | V456F | VUS | - | - | ||
| Exon 10 | c.1367T>C | V456A | disease-causing | CF:1 CFTR-RD:2 | - | - | |
| Exon 10 | c.1373G>T | G458V | VUS | CF:2 CFTR-RD:1 | - | - | |
| Exon 10 | c.1388G>T | G463V | VUS | - | - | ||
| Exon 10 | c.1390A>C | K464Q | VUS | CF:1 | - | - | |
| Exon 10 | c.1392G>T | K464N | disease-causing | CF:1 | - | - | |
| Exon 11 | c.1397C>T | S466L | VUS | CFTR-RD:1 | - | - | |
| Exon 11 | c.1399C>T | 1531C/T (L467F) | VUS | CF:9 CFTR-RD:5 | - | - | |
| Exon 11 | c.1405A>G | M469V | disease-causing | CFTR-RD:5 | - | - | |
| Exon 11 | c.1408A>G | M470V | non disease-causing | Asymptomatic:35 CF:346 CFTR-RD:532 Fetal bowel anomalies:11 Pending:58 | - | - | |
| Exon 11 | c.1408G>A | V470M | not reported | Asymptomatic:24 CF:18 CFTR-RD:20 Infertility:1 Pending (NBS):17 Suspicion of CF:33 | 0.565414 | AG: 0.00 (21) AL: 0.00 (-1) DG: 0.00 (30) DL: 0.00 (-1) | |
| Exon 11 | c.1420G>A | E474K | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 11 | c.1429C>T | P477S | VUS | CFTR-RD:1 | - | - | |
| Exon 11 | c.1438G>A | G480S | VUS | Pending:1 | - | - | |
| Exon 11 | c.1438G>T | G480C | VUS | - | - | ||
| Exon 11 | c.1453A>T | S485C | VUS | CFTR-RD:1 | - | - | |
| Exon 11 | c.1466C>T | VUS | CFTR-RD:1 | - | - | ||
| Exon 11 | c.1471T>C | C491R | disease-causing | CF:3 CFTR-RD:1 Pending:1 | - | - | |
| Exon 11 | c.1475C>T | S492F | disease-causing | CF:6 CFTR-RD:1 | - | - | |
| Exon 11 | c.1494G>C | M498I | VUS | CF:1 | - | - | |
| Exon 11 | c.1495C>T | VUS | CFTR-RD:2 | - | - | ||
| Exon 11 | c.1499G>T | VUS | CFTR-RD:1 | - | - | ||
| Exon 11 | c.1501A>G | T501A | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 11 | c.1505T>C | I502T | disease-causing | - | - | ||
| Exon 11 | c.1516A>C | I506L | VUS | CFTR-RD:1 Pending:1 | - | - | |
| Exon 11 | c.1516A>G | I506V (1648A/G) | VUS | CF:1 CFTR-RD:3 Pending:1 | - | - | |
| Exon 11 | c.1517T>C | I506T | disease-causing | CF:1 | Asymptomatic:1 CF:6 CFTR-RD:1 Fetal bowel anomalies:1 | - | AG: 0.01 (-37) AL: 0.01 (31) DG: 0.00 (-37) DL: 0.00 (-4) |
| Exon 11 | c.1518C>G | 1650C/G | VUS | CF:1 | - | - | |
| Exon 11 | c.1523T>G | F508C | disease-causing | CF:1 | Asymptomatic:2 CF:8 CFTR-RD:33 Pending:1 | 0.000879 | AG: 0.03 (-43) AL: 0.01 (25) DG: 0.00 (-44) DL: 0.00 (-43) |
| Exon 11 | c.1538A>G | D513G | disease-causing | CFTR-RD:1 Pending:1 | - | - | |
| Exon 11 | c.1555A>G | S519G | VUS | CF:2 | - | - | |
| Exon 11 | c.1558G>A | V520I | VUS | Asymptomatic:1 | - | - | |
| Exon 11 | c.1558G>T | V520F | disease-causing | CF:1 | - | - | |
| Exon 11 | c.1562T>G | VUS | CF:1 | - | - | ||
| Exon 11 | c.1568C>A | VUS | CFTR-RD:1 | - | - | ||
| Exon 11 | c.1573C>A | VUS | - | - | |||
| Exon 11 | c.1580A>G | E527G | VUS | CFTR-RD:1 | - | - | |
| Exon 11 | c.1583A>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 12 | c.1601C>A | A534E | VUS | Asymptomatic:2 CFTR-RD:2 | - | - | |
| Exon 12 | c.1603G>A | VUS | CFTR-RD:1 | - | - | ||
| Exon 12 | c.1609G>A | D537N | disease-causing | Pending (NBS):1 | - | AG: 0.00 (-31) AL: 0.00 (-24) DG: 0.00 (-32) DL: 0.00 (42) | |
| Exon 12 | c.1616T>C | I539T | VUS | - | - | ||
| Exon 12 | c.1630G>A | G544S | VUS | CFTR-RD:1 | - | - | |
| Exon 12 | c.1631G>T | G544V | VUS | CFTR-RD:2 | - | - | |
| Exon 12 | c.1645A>C | S549R(A>C) | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 12 | c.1646G>A | S549N | disease-causing | CF:2 CFTR-RD:3 | - | - | |
| Exon 12 | c.1647T>G | S549R(T>G) | disease-causing | CF:4 | - | - | |
| Exon 12 | c.1651G>A | G551S | disease-causing | - | - | ||
| Exon 12 | c.1652G>A | G551D | disease-causing | Suspicion of CF:3 | Asymptomatic:3 CF:73 CFTR-RD:10 Pending:9 | 0.0003 | AG: 0.00 (-48) AL: 0.00 (27) DG: 0.01 (27) DL: 0.00 (-1) |
| Exon 12 | c.1655A>C | Q552P | VUS | CF:1 Pending:1 | - | - | |
| Exon 12 | c.1657C>G | R553G | VUS | Pending:1 | - | - | |
| Exon 12 | c.1658G>A | R553Q | VUS | - | - | ||
| Exon 12 | c.1661C>A | A554E | VUS | - | - | ||
| Exon 12 | c.1666A>G | I556V | disease-causing | Asymptomatic:1 | Asymptomatic:1 CFTR-RD:2 | 0.001165 | AG: 0.00 (1) AL: 0.00 (10) DG: 0.00 (8) DL: 0.00 (13) |
| Exon 12 | c.1673T>C | L558S | disease-causing | CF:6 CFTR-RD:1 | - | - | |
| Exon 12 | c.1675G>A | A559T | disease-causing | CF:3 Pending:1 | - | - | |
| Exon 12 | c.1679G>A | R560K | disease-causing | CF:6 | - | - | |
| Exon 13 | c.1680A>C | R560S | disease-causing | CF:2 | - | - | |
| Exon 13 | c.1682C>A | A561E | disease-causing | CF:1 | - | - | |
| Exon 13 | c.1684G>A | V562I | VUS | CFTR-RD:1 | Asymptomatic:1 CF:5 CFTR-RD:33 Pending:3 | - | AG: 0.03 (-2) AL: 0.42 (1) DG: 0.00 (31) DL: 0.00 (1) |
| Exon 13 | c.1684G>C | V562L | VUS | CFTR-RD:3 | - | - | |
| Exon 13 | c.1687T>A | Y563N | disease-causing | CF:1 | - | - | |
| Exon 13 | c.1690A>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 13 | c.1694A>G | D565G | disease-causing | - | - | ||
| Exon 13 | c.1695T>G | VUS | CF:1 CFTR-RD:1 | - | - | ||
| Exon 13 | c.1696G>A | A566T | VUS | Asymptomatic:1 CFTR-RD:1 Pending:1 | - | - | |
| Exon 13 | c.1704G>T | L568F | VUS | CFTR-RD:3 | - | - | |
| Exon 13 | c.1705T>C | Y569H | disease-causing | CF:2 | - | - | |
| Exon 13 | c.1705T>G | Y569D | disease-causing | CF:1 | - | - | |
| Exon 13 | c.1706A>G | Y569C | VUS | CF:1 | - | - | |
| Exon 13 | c.1720C>T | P574S | VUS | CFTR-RD:2 Pending:1 | - | - | |
| Exon 13 | c.1721C>A | P574H | disease-causing | CF:1 CFTR-RD:2 Pending:1 | - | - | |
| Exon 13 | c.1721C>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 13 | c.1723T>G | F575V | VUS | CFTR-RD:1 | - | - | |
| Exon 13 | c.1724T>A | F575Y | disease-causing | CFTR-RD:1 Pending:2 | - | - | |
| Exon 13 | c.1727G>C | G576A | disease-causing | Asymptomatic:16 CF:5 CFTR-RD:93 Fetal bowel anomalies:1 Pending:8 | - | - | |
| Exon 13 | c.1730A>T | Y577F | VUS | - | - | ||
| Exon 13 | c.1736A>G | D579G | disease-causing | CFTR-RD:1 | - | - | |
| Exon 13 | c.1745C>T | T582I | disease-causing | Suspicion of CF:1 | CF:1 CFTR-RD:2 Pending:1 | 3.5e-05 | AG: 0.00 (21) AL: 0.03 (-9) DG: 0.00 (-9) DL: 0.27 (21) |
| Exon 13 | c.1759T>A | VUS | CFTR-RD:1 | - | - | ||
| Exon 13 | c.1762G>A | VUS | CFTR-RD:1 | - | - | ||
| Exon 13 | c.1763A>T | E588V | disease-causing | - | - | ||
| Exon 13 | c.1766G>A | S589N | VUS | - | - | ||
| Exon 14 | c.1769G>A | VUS | Pending:1 | - | - | ||
| Exon 14 | c.1781T>C | L594P | VUS | - | - | ||
| Exon 14 | c.1783A>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 14 | c.1784T>C | M595T | VUS | CF:1 | - | - | |
| Exon 14 | c.1792A>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 14 | c.1798A>G | R600G | VUS | CF:3 | - | - | |
| Exon 14 | c.1800G>T | VUS | CF:1 | - | - | ||
| Exon 14 | c.1801A>T | I601F | disease-causing | CF:2 CFTR-RD:4 Fetal bowel anomalies:1 Pending:5 | - | - | |
| Exon 14 | c.1802T>C | VUS | CF:1 Pending:2 | - | - | ||
| Exon 14 | c.1811C>T | T604I | disease-causing | CF:2 Pending:1 | - | - | |
| Exon 14 | c.1819A>G | VUS | - | - | |||
| Exon 14 | c.1826A>G | H609R | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 14 | c.1826A>T | H609L | VUS | CFTR-RD:1 | - | - | |
| Exon 14 | c.1841A>G | D614G | disease-causing | CFTR-RD:4 Pending:2 | - | - | |
| Exon 14 | c.1847T>C | VUS | - | - | |||
| Exon 14 | c.1853T>A | I618N | VUS | CF:1 | - | - | |
| Exon 14 | c.1853T>C | I618T | disease-causing | - | - | ||
| Exon 14 | c.1853T>G | I618S | VUS | CFTR-RD:1 | - | - | |
| Exon 14 | c.1865G>A | G622D | disease-causing | Asymptomatic:1 CF:3 CFTR-RD:16 Fetal bowel anomalies:3 Pending:2 | - | - | |
| Exon 14 | c.1882G>A | G628R(G->A) | disease-causing | CF:1 | - | - | |
| Exon 14 | c.1882G>C | G628R(G->C) | disease-causing | - | - | ||
| Exon 14 | c.1897C>T | VUS | Asymptomatic:1 CFTR-RD:1 | - | - | ||
| Exon 14 | c.1970G>A | VUS | Asymptomatic:1 | - | - | ||
| Exon 14 | c.1990G>C | E664Q | VUS | CFTR-RD:1 | - | - | |
| Exon 14 | c.2002C>T | R668C | disease-causing | Suspicion of CF:1 | Asymptomatic:17 CF:7 CFTR-RD:96 Fetal bowel anomalies:1 Pending:7 | 0.006121 | AG: 0.24 (13) AL: 0.22 (-40) DG: 0.00 (13) DL: 0.00 (-40) |
| Exon 14 | c.2057C>A | S686Y | VUS | Asymptomatic:2 CFTR-RD:1 | - | - | |
| Exon 14 | c.2074G>C | E692Q | VUS | CFTR-RD:1 | - | - | |
| Exon 14 | c.2096A>G | VUS | Asymptomatic:1 | - | - | ||
| Exon 14 | c.2145A>C | Q715H | VUS | CFTR-RD:1 | - | - | |
| Exon 14 | c.2168G>T | G723V | VUS | Asymptomatic:1 | - | - | |
| Exon 14 | c.2173G>A | E725K | VUS | Asymptomatic:1 CF:1 CFTR-RD:1 Pending:1 | - | - | |
| Exon 14 | c.2179G>T | D727Y | not reported | Pending (NBS):1 | - | AG: 0.00 (19) AL: 0.01 (-30) DG: 0.00 (-2) DL: 0.00 (-30) | |
| Exon 14 | c.2192C>T | VUS | - | - | |||
| Exon 14 | c.2210C>T | S737F | VUS | Pending (NBS):1 | Pending:2 | 1.4e-05 | AG: 0.00 (6) AL: 0.00 (-12) DG: 0.00 (23) DL: 0.00 (-7) |
| Exon 14 | c.2249C>T | P750L | disease-causing | Asymptomatic:1 CFTR-RD:7 | - | - | |
| Exon 14 | c.2252G>T | R751L | VUS | - | - | ||
| Exon 14 | c.2260G>A | V754M | non disease-causing | Asymptomatic:2 CF:3 CFTR-RD:9 Pending:1 | - | - | |
| Exon 14 | c.2295G>T | VUS | Asymptomatic:1 Pending:1 | - | - | ||
| Exon 14 | c.2297G>A | R766K | VUS | CFTR-RD:1 | - | - | |
| Exon 14 | c.2335C>A | VUS | CFTR-RD:1 | - | - | ||
| Exon 14 | c.2374C>G | R792G | VUS | - | - | ||
| Exon 14 | c.2378A>T | VUS | CFTR-RD:1 | - | - | ||
| Exon 14 | c.2395C>A | Q799K | VUS | CFTR-RD:1 | - | - | |
| Exon 14 | c.2417A>G | D806G | VUS | CFTR-RD:2 | - | - | |
| Exon 14 | c.2421A>G | I807M ; 2553A/G | disease-causing | Asymptomatic:2 CFTR-RD:7 | - | - | |
| Exon 14 | c.2428A>G | R810G | VUS | CFTR-RD:2 Pending:1 | - | - | |
| Exon 14 | c.2450G>T | VUS | - | - | |||
| Exon 14 | c.2464G>A | E822K | VUS | - | - | ||
| Exon 14 | c.2476G>A | E826K | VUS | CFTR-RD:1 | - | - | |
| Exon 14 | c.2483A>G | D828G | VUS | CFTR-RD:1 | - | - | |
| Exon 15 | c.2502T>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 15 | c.2506G>T | D836Y | VUS | Asymptomatic:2 CFTR-RD:2 | - | - | |
| Exon 15 | c.2522C>G | P841R | VUS | CFTR-RD:1 | - | - | |
| Exon 15 | c.2540A>G | VUS | - | - | |||
| Exon 15 | c.2552G>T | R851L | VUS | CF:1 CFTR-RD:2 | - | - | |
| Exon 15 | c.2563G>A | V855I | VUS | CFTR-RD:1 | - | - | |
| Exon 15 | c.2596T>C | C866R | VUS | CFTR-RD:1 | - | - | |
| Exon 15 | c.2597G>A | C866Y | VUS | - | - | ||
| Exon 15 | c.2598C>G | C866W | VUS | CFTR-RD:1 | - | - | |
| Exon 17 | c.2669A>G | Q890R | VUS | Asymptomatic:1 | - | - | |
| Exon 17 | c.2672A>G | D891G | VUS | CFTR-RD:1 | - | - | |
| Exon 17 | c.2695A>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 17 | c.2699A>C | N900T | VUS | Asymptomatic:1 | - | - | |
| Exon 17 | c.2706C>G | S902R | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 17 | c.2719A>G | 2851A/G | VUS | Asymptomatic:1 CFTR-RD:1 | - | - | |
| Exon 17 | c.2723C>A | T908N | disease-causing | CFTR-RD:2 | - | - | |
| Exon 17 | c.2735C>G | S912W | VUS | CFTR-RD:1 | - | - | |
| Exon 17 | c.2735C>T | S912L | VUS | Asymptomatic:1 CF:1 CFTR-RD:2 Fetal bowel anomalies:1 | - | - | |
| Exon 17 | c.2743G>C | V915L | VUS | Asymptomatic:2 | - | - | |
| Exon 17 | c.2754T>G | I918M | VUS | CFTR-RD:1 | - | - | |
| Exon 17 | c.2756A>G | Y919C | VUS | Asymptomatic:2 Pending:1 | - | - | |
| Exon 17 | c.2758G>A | V920M | VUS | CF:2 CFTR-RD:5 Pending:1 | - | - | |
| Exon 17 | c.2758G>T | V920L | VUS | CFTR-RD:2 | - | - | |
| Exon 17 | c.2770G>A | D924N | VUS | CF:1 CFTR-RD:2 Pending:1 | - | - | |
| Exon 17 | c.2770G>C | VUS | Pending:1 | - | - | ||
| Exon 17 | c.2780T>C | L927P | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 17 | c.2797A>G | R933G | disease-causing | CF:2 CFTR-RD:3 Pending:1 | - | - | |
| Exon 17 | c.2813T>G | V938G | disease-causing | CFTR-RD:8 | - | - | |
| Exon 17 | c.2816A>G | H939R | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 17 | c.2834C>T | S945L | disease-causing | CF:15 CFTR-RD:9 Pending:3 | - | - | |
| Exon 17 | c.2846A>G | H949R | VUS | CFTR-RD:1 | - | - | |
| Exon 17 | c.2846A>T | H949L | VUS | CFTR-RD:2 | - | - | |
| Exon 17 | c.2851A>G | VUS | Fetal bowel anomalies:1 | - | - | ||
| Exon 17 | c.2855T>C | M952T | VUS | CFTR-RD:1 Pending (NBS):1 | Asymptomatic:1 CFTR-RD:2 Pending:1 | 0.000181 | AG: 0.00 (-24) AL: 0.00 (21) DG: 0.00 (49) DL: 0.00 (-44) |
| Exon 17 | c.2856G>C | M952I | disease-causing | CFTR-RD:11 | - | - | |
| Exon 17 | c.2876C>T | A959V | VUS | - | - | ||
| Exon 17 | c.2900T>C | L967S | VUS | Asymptomatic:3 CF:3 CFTR-RD:4 Fetal bowel anomalies:1 Pending:6 | - | - | |
| Exon 17 | c.2908G>C | G970R | disease-causing | CF:4 CFTR-RD:1 | - | - | |
| Exon 18 | c.2909G>A | G970D | VUS | CF:2 | - | - | |
| Exon 18 | c.2909G>T | VUS | Pending:1 | - | - | ||
| Exon 18 | c.2930C>T | S977F | disease-causing | Asymptomatic:1 CF:4 CFTR-RD:10 Pending:3 | - | - | |
| Exon 18 | c.2936A>C | D979A | VUS | CFTR-RD:1 | - | - | |
| Exon 18 | c.2936A>T | D979V | disease-causing | CF:1 | - | - | |
| Exon 18 | c.2939T>A | I980K | disease-causing | Asymptomatic:1 CFTR-RD:9 | - | - | |
| Exon 18 | c.2940A>G | I980M | VUS | CFTR-RD:1 | - | - | |
| Exon 18 | c.2946T>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 18 | c.2953G>C | D985H | VUS | CF:1 | - | - | |
| Exon 18 | c.2953G>T | D985Y | VUS | CF:1 | - | - | |
| Exon 18 | c.2957T>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 18 | c.2973A>G | I991M | VUS | CFTR-RD:1 | - | - | |
| Exon 18 | c.2977G>T | D993Y | disease-causing | CF:7 | - | - | |
| Exon 18 | c.2978A>G | D993G | VUS | - | - | ||
| Exon 18 | c.2981T>G | F994C | VUS | CFTR-RD:1 | - | - | |
| Exon 18 | c.2987A>T | VUS | - | - | |||
| Exon 19 | c.2991G>C | L997F | disease-causing | CFTR-RD:1 Pending (NBS):1 Suspicion of CF:2 | Asymptomatic:8 CF:2 CFTR-RD:88 Fetal bowel anomalies:1 Pending:8 | 0.002068 | AG: 0.00 (26) AL: 0.00 (-2) DG: 0.00 (9) DL: 0.00 (26) |
| Exon 19 | c.3014T>G | I1005R | VUS | CF:2 | - | - | |
| Exon 19 | c.3017C>A | A1006E | disease-causing | CF:1 | - | - | |
| Exon 19 | c.3038C>A | P1013H | VUS | CFTR-RD:3 Pending:1 | - | - | |
| Exon 19 | c.3038C>T | P1013L | VUS | CFTR-RD:1 | - | - | |
| Exon 19 | c.3041A>G | Y1014C | VUS | CFTR-RD:1 Pending:1 | - | - | |
| Exon 19 | c.3047T>C | F1016S | disease-causing | - | - | ||
| Exon 19 | c.3059T>A | V1020E | VUS | CF:1 | - | - | |
| Exon 19 | c.3080T>C | I1027T | VUS | Suspicion of CF:1 | CF:24 CFTR-RD:22 Pending:2 | 0.00037 | AG: 0.04 (-21) AL: 0.00 (35) DG: 0.00 (-21) DL: 0.00 (-17) |
| Exon 19 | c.3083T>G | M1028R | VUS | CFTR-RD:4 | - | - | |
| Exon 19 | c.3095A>G | Y1032C | disease-causing | Asymptomatic:1 CFTR-RD:5 Pending:1 | - | - | |
| Exon 19 | c.3107C>A | T1036N | disease-causing | - | - | ||
| Exon 19 | c.3131A>G | VUS | CF:1 | - | - | ||
| Exon 20 | c.3148C>G | P1050A | VUS | CFTR-RD:1 | - | - | |
| Exon 20 | c.3151A>G | I1051V | VUS | Asymptomatic:1 | - | - | |
| Exon 20 | c.3154T>G | F1052V | disease-causing | Pending (NBS):1 | Asymptomatic:3 CFTR-RD:5 Pending:2 | 0.000384 | AG: 0.04 (-10) AL: 0.05 (20) DG: 0.00 (-1) DL: 0.00 (-14) |
| Exon 20 | c.3158C>T | T1053I | VUS | - | - | ||
| Exon 20 | c.3160C>G | H1054D | disease-causing | CF:11 CFTR-RD:2 Pending:1 | - | - | |
| Exon 20 | c.3160C>T | VUS | CFTR-RD:3 | - | - | ||
| Exon 20 | c.3170C>G | VUS | CF:1 CFTR-RD:3 | - | - | ||
| Exon 20 | c.3179A>C | K1060T | VUS | - | - | ||
| Exon 20 | c.3181G>A | VUS | - | - | |||
| Exon 20 | c.3181G>C | G1061R | disease-causing | CF:4 Pending:1 | - | - | |
| Exon 20 | c.3194T>C | L1065P | disease-causing | CF:4 | - | - | |
| Exon 20 | c.3196C>T | R1066C | disease-causing | CF:15 CFTR-RD:4 Pending:1 | - | - | |
| Exon 20 | c.3197G>A | R1066H | disease-causing | CF:5 | - | - | |
| Exon 20 | c.3197G>C | R1066P | disease-causing | CF:1 | - | - | |
| Exon 20 | c.3197G>T | R1066L | disease-causing | CF:2 | - | - | |
| Exon 20 | c.3199G>A | A1067T | VUS | CFTR-RD:2 Fetal bowel anomalies:1 | - | - | |
| Exon 20 | c.3200C>T | A1067V | VUS | CFTR-RD:1 | - | - | |
| Exon 20 | c.3205G>A | G1069R | disease-causing | CFTR-RD:9 | - | - | |
| Exon 20 | c.3208C>T | R1070W | disease-causing | Asymptomatic:1 CF:4 CFTR-RD:13 Pending:2 | - | - | |
| Exon 20 | c.3209G>A | R1070Q | disease-causing | CF:2 | - | - | |
| Exon 20 | c.3222T>A | F1074L | VUS | CFTR-RD:1 | - | - | |
| Exon 20 | c.3230T>C | L1077P | disease-causing | CF:2 CFTR-RD:1 Fetal bowel anomalies:1 | - | - | |
| Exon 20 | c.3233T>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 20 | c.3238A>C | K1080Q | VUS | - | - | ||
| Exon 20 | c.3241G>C | A1081P | VUS | CFTR-RD:1 | - | - | |
| Exon 20 | c.3254A>C | H1085P | VUS | - | - | ||
| Exon 20 | c.3254A>G | H1085R | disease-causing | CF:3 | - | - | |
| Exon 20 | c.3256A>G | T1086A | VUS | Asymptomatic:1 | - | - | |
| Exon 20 | c.3257C>T | T1086I | VUS | CF:1 | - | - | |
| Exon 20 | c.3262A>G | N1088D | VUS | CFTR-RD:1 | - | - | |
| Exon 20 | c.3274T>C | Y1092H | VUS | CF:2 CFTR-RD:1 | - | - | |
| Exon 20 | c.3290G>A | R1097H | VUS | Asymptomatic:1 | - | - | |
| Exon 20 | c.3292T>C | W1098R | disease-causing | CF:1 | - | - | |
| Exon 20 | c.3294G>C | disease-causing | Pending (NBS):1 | Pending:1 | - | AG: 0.00 (17) AL: 0.00 (-1) DG: 0.00 (45) DL: 0.00 (-1) | |
| Exon 20 | c.3297C>A | F1099L | disease-causing | CFTR-RD:1 | - | - | |
| Exon 20 | c.3299A>C | Q1100P | VUS | - | - | ||
| Exon 20 | c.3302T>A | M1101K | disease-causing | CF:5 | - | - | |
| Exon 20 | c.3302T>G | M1101R | disease-causing | - | - | ||
| Exon 20 | c.3322G>C | V1108L | VUS | Asymptomatic:1 CFTR-RD:2 | - | - | |
| Exon 20 | c.3340G>C | V1114L | VUS | CFTR-RD:1 | - | - | |
| Exon 20 | c.3344C>A | T1115N | not reported | 7e-06 | AG: 0.00 (24) AL: 0.00 (1) DG: 0.00 (-5) DL: 0.02 (23) | ||
| Exon 20 | c.3353C>T | S1118F | disease-causing | CFTR-RD:1 | - | - | |
| Exon 21 | c.3380G>A | G1127E | VUS | Asymptomatic:1 CFTR-RD:2 | - | - | |
| Exon 21 | c.3382A>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 21 | c.3406G>A | A1136T | VUS | CFTR-RD:1 | - | - | |
| Exon 21 | c.3409A>G | M1137V | VUS | CFTR-RD:2 | - | - | |
| Exon 21 | c.3410T>G | M1137R | disease-causing | - | - | ||
| Exon 21 | c.3415A>G | I1139V | disease-causing | Asymptomatic:1 CFTR-RD:4 | - | - | |
| Exon 21 | c.3422G>A | VUS | CFTR-RD:1 | - | - | ||
| Exon 21 | c.3443A>G | N1148S | VUS | CF:1 | - | - | |
| Exon 21 | c.3454G>C | D1152H | disease-causing | CF:2 Suspicion of CF:1 | Asymptomatic:4 CF:31 CFTR-RD:72 Pending:9 | 0.000321 | AG: 0.00 (-47) AL: 0.00 (1) DG: 0.00 (14) DL: 0.00 (2) |
| Exon 21 | c.3458T>A | V1153E | disease-causing | Asymptomatic:1 CFTR-RD:5 Pending:1 | - | - | |
| Exon 21 | c.3460G>A | VUS | CFTR-RD:1 | - | - | ||
| Exon 21 | c.3461A>G | D1154G | disease-causing | CFTR-RD:2 | - | - | |
| Exon 21 | c.3461A>T | VUS | CFTR-RD:1 | - | - | ||
| Exon 22 | c.3471G>A | M1157I | VUS | CFTR-RD:1 | - | - | |
| Exon 22 | c.3473G>T | R1158L | VUS | CFTR-RD:1 | - | - | |
| Exon 22 | c.3475T>C | S1159P | disease-causing | - | - | ||
| Exon 22 | c.3476C>T | S1159F | disease-causing | Asymptomatic:1 CF:2 | - | - | |
| Exon 22 | c.3485G>T | 3617G/T | disease-causing | CFTR-RD:1 Pending (NBS):1 | Asymptomatic:4 CFTR-RD:7 Pending:2 | 0.000663 | AG: 0.00 (30) AL: 0.01 (-16) DG: 0.00 (30) DL: 0.11 (32) |
| Exon 22 | c.3503A>G | D1168G | VUS | CF:1 | - | - | |
| Exon 22 | c.3562T>C | S1188P | VUS | CFTR-RD:1 | - | - | |
| Exon 22 | c.3590A>T | VUS | CFTR-RD:1 | - | - | ||
| Exon 22 | c.3628A>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 22 | c.3689T>C | I1230T | VUS | - | - | ||
| Exon 22 | c.3700A>G | I1234V | disease-causing | CF:6 CFTR-RD:1 | - | - | |
| Exon 22 | c.3705T>G | S1235R | VUS | Asymptomatic:17 CF:5 CFTR-RD:33 Pending:1 | - | - | |
| Exon 22 | c.3713A>G | Q1238R | VUS | Fetal bowel anomalies:1 | - | - | |
| Exon 22 | c.3644_3645delinsAT | L1215H | VUS | CF:1 | - | - | |
| Exon 23 | c.3719T>G | V1240G | disease-causing | - | - | ||
| Exon 23 | c.3731G>A | G1244E | disease-causing | Pending (NBS):1 | CF:11 CFTR-RD:4 Fetal bowel anomalies:1 Pending:2 | 7e-06 | AG: 0.01 (-13) AL: 0.00 (-41) DG: 0.00 (4) DL: 0.00 (-14) |
| Exon 23 | c.3737C>T | T1246I | disease-causing | CF:1 CFTR-RD:2 | - | - | |
| Exon 23 | c.3745G>A | G1249R | disease-causing | CF:7 CFTR-RD:1 | - | - | |
| Exon 23 | c.3746G>A | G1249E | disease-causing | CF:1 | - | - | |
| Exon 23 | c.3752G>A | S1251N | disease-causing | CF:16 CFTR-RD:2 | - | - | |
| Exon 23 | c.3754A>C | T1252P | VUS | CF:1 | - | - | |
| Exon 23 | c.3806T>A | I1269N | disease-causing | - | - | ||
| Exon 23 | c.3808G>A | D1270N | disease-causing | CFTR-RD:1 Suspicion of CF:1 | Asymptomatic:7 CF:3 CFTR-RD:47 Pending:11 | 0.004392 | AG: 0.00 (36) AL: 0.00 (-41) DG: 0.00 (3) DL: 0.00 (40) |
| Exon 23 | c.3824A>T | VUS | CFTR-RD:1 | - | - | ||
| Exon 23 | c.3844T>C | W1282R | VUS | - | - | ||
| Exon 23 | c.3846G>T | W1282C | VUS | CFTR-RD:1 | - | - | |
| Exon 23 | c.3848G>T | R1283M | VUS | - | - | ||
| Exon 23 | c.3849G>C | R1283S(G->C) | VUS | - | - | ||
| Exon 23 | c.3849G>T | R1283S(G->T) | VUS | - | - | ||
| Exon 23 | c.3854C>G | A1285G | VUS | CFTR-RD:1 | - | - | |
| Exon 23 | c.3854C>T | VUS | CF:1 | - | - | ||
| Exon 23 | c.3857T>C | F1286S | disease-causing | CF:2 | - | - | |
| Exon 23 | c.3868C>A | P1290T | VUS | Asymptomatic:1 | - | - | |
| Exon 23 | c.3872A>G | Q1291R | disease-causing | CF:2 CFTR-RD:1 | - | - | |
| Exon 24 | c.3878T>G | V1293G | VUS | - | - | ||
| Exon 24 | c.3896C>T | T1299I | VUS | CF:1 CFTR-RD:2 | - | - | |
| Exon 24 | c.3907A>C | N1303H | VUS | CF:1 | - | - | |
| Exon 24 | c.3908A>T | N1303I | disease-causing | CFTR-RD:7 Pending:4 | - | - | |
| Exon 24 | c.3909C>G | N1303K | disease-causing | Asymptomatic:3 | Asymptomatic:5 CF:121 CFTR-RD:35 Fetal bowel anomalies:5 Pending:7 | 0.000161 | AG: 0.00 (-6) AL: 0.00 (-31) DG: 0.00 (-6) DL: 0.00 (-15) |
| Exon 24 | c.3915T>A | D1305E | VUS | CFTR-RD:1 | - | - | |
| Exon 24 | c.3923A>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 24 | c.3927G>T | Q1309H | VUS | CFTR-RD:1 | - | - | |
| Exon 24 | c.3935A>G | D1312G | VUS | Asymptomatic:1 CFTR-RD:2 | - | - | |
| Exon 24 | c.3937C>A | Q1313K | VUS | CF:2 | - | - | |
| Exon 24 | c.3953T>C | V1318A | VUS | CFTR-RD:1 | - | - | |
| Exon 25 | c.3971T>C | L1324P | VUS | CF:1 Pending:1 | - | - | |
| Exon 25 | c.3983T>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 25 | c.4004T>C | L1335P | disease-causing | CF:1 | - | - | |
| Exon 25 | c.4015C>T | L1339F | VUS | CFTR-RD:1 | - | - | |
| Exon 25 | c.4027G>A | VUS | - | - | |||
| Exon 25 | c.4046G>A | G1349D | disease-causing | CF:1 CFTR-RD:1 | - | - | |
| Exon 25 | c.4056G>C | Q1352H(G>C) | disease-causing | Asymptomatic:2 CFTR-RD:9 | - | - | |
| Exon 25 | c.4056G>T | Q1352H(G>T) | VUS | Asymptomatic:1 CFTR-RD:4 | - | - | |
| Exon 25 | c.4061T>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 25 | c.4064G>T | VUS | Pending:1 | - | - | ||
| Exon 25 | c.4085G>A | VUS | CFTR-RD:1 | - | - | ||
| Exon 25 | c.4091C>T | A1364V | VUS | CFTR-RD:1 | - | - | |
| Exon 25 | c.4097T>A | I1366N | disease-causing | - | - | ||
| Exon 25 | c.4097T>C | I1366T | disease-causing | CFTR-RD:8 Pending:2 | - | - | |
| Exon 25 | c.4124A>C | H1375P | disease-causing | - | - | ||
| Exon 25 | c.4124A>G | VUS | CFTR-RD:1 | - | - | ||
| Exon 25 | c.4127T>C | VUS | CFTR-RD:1 | - | - | ||
| Exon 25 | c.4129G>C | D1377H | disease-causing | CFTR-RD:2 | - | - | |
| Exon 25 | c.4053_4054delinsAG | VUS | Asymptomatic:1 | - | - | ||
| Exon 26 | c.4139C>T | T1380I | VUS | CFTR-RD:1 | - | - | |
| Exon 26 | c.4147A>G | VUS | Asymptomatic:1 | - | - | ||
| Exon 26 | c.4186A>C | T1396P | VUS | CFTR-RD:1 | - | - | |
| Exon 26 | c.4202A>G | E1401G | VUS | CFTR-RD:1 | - | - | |
| Exon 26 | c.4220T>C | M1407T | VUS | - | - | ||
| Exon 26 | c.4225G>A | E1409K | VUS | CFTR-RD:1 Pending:1 | - | - | |
| Exon 27 | c.4264C>T | R1422W | VUS | CF:1 | - | - | |
| Exon 27 | c.4275T>A | D1425E | VUS | Asymptomatic:1 | - | - | |
| Exon 27 | c.4276T>C | S1426P | disease-causing | CFTR-RD:1 | - | - | |
| Exon 27 | c.4277C>T | S1426F | VUS | CFTR-RD:1 | - | - | |
| Exon 27 | c.4297G>A | VUS | CFTR-RD:2 | - | - | ||
| Exon 27 | c.4333G>A | D1445N | VUS | CFTR-RD:4 | - | - | |
| Exon 27 | c.4357C>T | R1453W | VUS | CFTR-RD:1 | - | - | |
| Exon 27 | c.4439T>C | L1480P | VUS | CFTR-RD:1 | - | - |