CFTR- France & CFTR-NGS catalog have retrieved 536 MISSENSES, which are displayed below:



CFTR-France & CFTR-NGS Variants listing:
#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 VUSAsymptomatic:1
- -
Exon 1 c.14C>T P5L disease-causingCF:1
CFTR-RD:2
Pending:2
- -
Exon 1 c.26C>T VUSCF:1
- -
Exon 1 c.31G>A 163G/A VUSCFTR-RD:1
- -
Exon 1 c.37T>C VUSCFTR-RD:1
- -
Exon 1 c.38C>T S13F disease-causingCF: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) VUSCF:1
- -
Exon 2 c.80G>A G27E VUSCF:1
- -
Exon 2 c.91C>T R31C ; 223C/T VUSCFTR-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 VUSCF:1
- -
Exon 2 c.106G>A D36N VUSFetal bowel anomalies:1
- -
Exon 2 c.122C>G P41R VUSAsymptomatic:1
- -
Exon 2 c.125C>T S42F VUSCFTR-RD:2
- -
Exon 2 c.131A>G D44G disease-causingCF:2
- -
Exon 2 c.137C>A A46D disease-causingCF:3
CFTR-RD:2
- -
Exon 2 c.137C>T A46V VUS - -
Exon 2 c.148T>C S50P disease-causingCF:1
- -
Exon 2 c.157T>G VUSCFTR-RD:1
- -
Exon 2 c.164G>A R55K VUSCFTR-RD:1
- -
Exon 3 c.166G>A E56K disease-causingAsymptomatic:1
CFTR-RD:9
- -
Exon 3 c.169T>G W57G disease-causingCF:2
- -
Exon 3 c.173A>G D58G VUSCFTR-RD:1
- -
Exon 3 c.178G>A E60K disease-causingCF:2
- -
Exon 3 c.200C>T P67L disease-causingAsymptomatic:1
CF:1
- -
Exon 3 c.202A>G K68E VUSFetal bowel anomalies:1
- -
Exon 3 c.215C>A A72D VUSCFTR-RD:1
- -
Exon 3 c.220C>T R74W disease-causingCFTR-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 VUSCFTR-RD:2
Pending:1
- -
Exon 3 c.224G>A R75Q non disease-causingCFTR-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 VUSCFTR-RD:1
- -
Exon 3 c.228T>G VUSCFTR-RD:2
- -
Exon 3 c.235T>C W79R VUSCFTR-RD:1
- -
Exon 3 c.244A>G M82V VUSCFTR-RD:1
- -
Exon 3 c.250T>C Y84H VUSCFTR-RD:1
- -
Exon 3 c.254G>A G85E disease-causingCF: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-causingCF:2
CFTR-RD:1
- -
Exon 3 c.258C>G I86M VUSCFTR-RD:1
- -
Exon 3 c.259T>C F87L VUSCF:3
- -
Exon 3 c.266A>G Y89C VUS - -
Exon 3 c.271G>A G91R disease-causingCF:4
- -
Exon 4 c.274G>A E92K disease-causingCF:7
CFTR-RD:4
Pending:1
- -
Exon 4 c.278T>G VUSCFTR-RD:1
- -
Exon 4 c.283A>G VUSCF:1
- -
Exon 4 c.287C>A A96E VUSPending:1
- -
Exon 4 c.293A>G Q98R disease-causingCF:1
- -
Exon 4 c.296C>G P99R disease-causingCF:1
- -
Exon 4 c.296C>T P99L disease-causingCFTR-RD:1
- -
Exon 4 c.298C>G VUSAsymptomatic:1
- -
Exon 4 c.302T>C L101S VUSCFTR-RD:1
- -
Exon 4 c.305T>C L102P VUSCF:1
- -
Exon 4 c.314T>A I105N VUSCF:1
- -
Exon 4 c.323C>T S108F disease-causingCFTR-RD:1
- -
Exon 4 c.325T>A Y109N VUS - -
Exon 4 c.326A>G Y109C VUS - -
Exon 4 c.328G>C D110H disease-causingCF:5
CFTR-RD:6
Pending:1
- -
Exon 4 c.330C>A D110E disease-causingCF:2
- -
Exon 4 c.331C>G P111A disease-causing - -
Exon 4 c.332C>T P111L disease-causingCFTR-RD:2
- -
Exon 4 c.334G>A VUS - -
Exon 4 c.346G>A E116K disease-causingCF:1
CFTR-RD:1
- -
Exon 4 c.349C>G R117G disease-causingCFTR-RD:2
- -
Exon 4 c.349C>T R117C disease-causingAsymptomatic:2
CF:1
CFTR-RD:12
Fetal bowel anomalies:1
Pending:2
- -
Exon 4 c.350G>A R117H disease-causingCF: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 VUSCF:1
- -
Exon 4 c.350G>T R117L disease-causingCF:2
- -
Exon 4 c.355A>G I119V VUSAsymptomatic:1
- -
Exon 4 c.357C>G I119M VUSCFTR-RD:1
- -
Exon 4 c.358G>A A120T VUSCFTR-RD:1
Pending:1
- -
Exon 4 c.359C>T A120V VUS - -
Exon 4 c.365A>G Y122C VUSFetal bowel anomalies:1
- -
Exon 4 c.377G>A G126D disease-causingCF:1
- -
Exon 4 c.410T>G L137R VUS - -
Exon 4 c.415C>T VUSCF:1
- -
Exon 4 c.416A>G H139R disease-causing - -
Exon 4 c.422C>A A141D VUSCF:1
- -
Exon 4 c.433C>G VUSCFTR-RD:1
Fetal bowel anomalies:1
- -
Exon 4 c.437A>G H146R VUSPending:1
- -
Exon 4 c.443T>C I148T non disease-causingAsymptomatic:1
CF:8
CFTR-RD:7
Pending:1
- -
Exon 4 c.445G>A G149R disease-causingCF:5
- -
Exon 4 c.451C>A Q151K VUSCFTR-RD:2
- -
Exon 4 c.454A>G M152V disease-causingCF:3
- -
Exon 4 c.454A>T M152L VUSCFTR-RD:1
- -
Exon 4 c.472A>C S158R VUSCFTR-RD:1
- -
Exon 4 c.472A>G VUSCFTR-RD:2
- -
Exon 4 c.473G>A S158N VUSCFTR-RD:1
- -
Exon 4 c.473G>C S158T VUSFetal bowel anomalies:1
- -
Exon 4 c.476T>C L159S VUSAsymptomatic:1
CFTR-RD:1
- -
Exon 4 c.481T>A Y161N VUSCFTR-RD:2
- -
Exon 4 c.481T>G Y161D disease-causing - -
Exon 4 c.482A>C Y161S VUS - -
Exon 4 c.487A>C VUSCFTR-RD:1
- -
Exon 5 c.490A>C VUSPending:1
- -
Exon 5 c.494T>C L165S disease-causingCF:7
CFTR-RD:1
Pending:1
- -
Exon 5 c.500T>G VUSCF:2
- -
Exon 5 c.508C>T R170C VUSCFTR-RD:2
Pending:1
- -
Exon 5 c.509G>A R170H disease-causingCFTR-RD:12
- -
Exon 5 c.523A>G I175V disease-causingCF:2
- -
Exon 5 c.527G>T VUSCFTR-RD:1
- -
Exon 5 c.532G>A G178R disease-causingCF:9
- -
Exon 5 c.533G>A G178E VUS - -
Exon 5 c.535C>A Q179K VUSCFTR-RD:1
- -
Exon 5 c.544A>C VUSPending:1
- -
Exon 5 c.547C>A L183I VUSCF:1
- -
Exon 5 c.558C>A N186K VUSCF:1
CFTR-RD:2
- -
Exon 5 c.571T>G disease-causingCF:1
CFTR-RD:2
Pending:1
- -
Exon 5 c.574G>A D192N VUSCF: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-causingCFTR-RD:3
- -
Exon 6 c.595C>T H199Y disease-causingCF:5
- -
Exon 6 c.596A>G H199R disease-causingCF:1
Fetal bowel anomalies:2
- -
Exon 6 c.598T>A F200I disease-causingCFTR-RD:2
- -
Exon 6 c.601G>A V201M disease-causingCFTR-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 VUSCFTR-RD:1
- -
Exon 6 c.613C>T P205S disease-causingCF:6
CFTR-RD:3
- -
Exon 6 c.617T>C VUSCFTR-RD:1
- -
Exon 6 c.617T>G L206W disease-causingAsymptomatic:2
CF:26
CFTR-RD:65
Pending:27
- -
Exon 6 c.618G>T L206F VUSCF:1
- -
Exon 6 c.650A>G E217G VUSAsymptomatic:2
CF:1
CFTR-RD:1
Fetal bowel anomalies:1
- -
Exon 6 c.674G>A VUSPending:1
- -
Exon 6 c.680T>C VUS - -
Exon 6 c.680T>G L227R disease-causingCF:10
CFTR-RD:2
Pending:1
- -
Exon 6 c.695T>A V232D disease-causingCF:5
CFTR-RD:8
Pending:1
- -
Exon 6 c.701C>A VUSCFTR-RD:1
- -
Exon 6 c.709C>G Q237E disease-causingAsymptomatic:1
CF:3
Pending:1
- -
Exon 6 c.710A>T VUSCFTR-RD:1
- -
Exon 6 c.711G>C Q237H VUS - -
Exon 6 c.715G>A G239R VUSCFTR-RD:1
- -
Exon 6 c.721G>T VUSAsymptomatic:2
CFTR-RD:1
- -
Exon 6 c.731T>A M244K VUSCFTR-RD:1
- -
Exon 7 c.745G>T D249Y VUSCFTR-RD:1
- -
Exon 7 c.772A>G R258G disease-causingAsymptomatic: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 VUSCFTR-RD:1
- -
Exon 7 c.794T>G M265R disease-causing - -
Exon 7 c.837A>T E279D VUSCFTR-RD:1
- -
Exon 7 c.846A>T E282D VUSCFTR-RD:1
- -
Exon 7 c.859A>T N287Y VUSCF:1
- -
Exon 7 c.861C>G VUS - -
Exon 8 c.874G>A E292K VUSCF:1
- -
Exon 8 c.890G>A R297Q VUSAsymptomatic:1
CFTR-RD:2
Pending:1
- -
Exon 8 c.899C>A VUSCFTR-RD:1
- -
Exon 8 c.902A>G Y301C VUSAsymptomatic:1
CFTR-RD:1
- -
Exon 8 c.920G>A S307N VUSCFTR-RD:1
- -
Exon 8 c.926C>G A309G VUSCFTR-RD:1
- -
Exon 8 c.933C>A F311L(C->A) disease-causing - -
Exon 8 c.933C>G F311L disease-causingCF:4
CFTR-RD:1
Pending:2
- -
Exon 8 c.941G>A G314E disease-causing - -
Exon 8 c.941G>C VUSCFTR-RD:1
- -
Exon 8 c.941G>T G314V VUSAsymptomatic:1
Pending:1
- -
Exon 8 c.958T>G L320V VUSAsymptomatic:2
CFTR-RD:2
- -
Exon 8 c.964G>A V322M (1096(G/A)) VUSAsymptomatic:2
- -
Exon 8 c.965T>C V322A VUS - -
Exon 8 c.979C>G L327V VUSPending:1
- -
Exon 8 c.980T>G L327R VUSCFTR-RD:1
- -
Exon 8 c.1000C>T R334W disease-causingCF:27
CFTR-RD:4
Pending:2
- -
Exon 8 c.1001G>A R334Q disease-causingCFTR-RD:1
- -
Exon 8 c.1001G>T R334L disease-causingCFTR-RD:1
- -
Exon 8 c.1007T>A I336K disease-causingCF:2
CFTR-RD:1
- -
Exon 8 c.1013C>T T338I disease-causingAsymptomatic: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 VUSCFTR-RD:1
- -
Exon 8 c.1040G>A R347H disease-causingAsymptomatic:3
CF:20
CFTR-RD:16
Pending:8
- -
Exon 8 c.1040G>C R347P disease-causingCF:27
CFTR-RD:9
Fetal bowel anomalies:1
- -
Exon 8 c.1040G>T R347L disease-causingAsymptomatic:1
CF:2
- -
Exon 8 c.1043T>A M348K VUSAsymptomatic:1
CF:1
CFTR-RD:1
- -
Exon 8 c.1046C>T A349V VUSCFTR-RD:1
- -
Exon 8 c.1052C>G T351S VUSAsymptomatic:2
CF:1
CFTR-RD:10
- -
Exon 8 c.1054C>G R352G VUSCF:2
- -
Exon 8 c.1054C>T R352W disease-causingCFTR-RD:7
- -
Exon 8 c.1055G>A R352Q disease-causingCF:5
CFTR-RD:1
- -
Exon 8 c.1064C>T VUSAsymptomatic:1
- -
Exon 8 c.1069G>A A357T VUSPending (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 VUSPending:1
- -
Exon 8 c.1076A>G Q359R disease-causingCF:1
- -
Exon 8 c.1081T>A W361R(T>A) VUS - -
Exon 8 c.1081T>C W361R(T>C) disease-causingCF:1
- -
Exon 8 c.1090T>C S364P VUSCF:2
- -
Exon 9 c.1118A>G VUSAsymptomatic:1
- -
Exon 9 c.1125A>C L375F VUSCFTR-RD:1
- -
Exon 9 c.1135G>A E379K VUSCFTR-RD:1
- -
Exon 9 c.1139A>G Y380C VUSCFTR-RD:1
- -
Exon 9 c.1163C>T T388M VUSCFTR-RD:1
- -
Exon 9 c.1175T>G V392G disease-causingCF:1
- -
Exon 9 c.1177G>C V393L VUSCFTR-RD:1
- -
Exon 9 c.1209G>C E403D disease-causingCF:3
Pending:1
- -
Exon 10 c.1251C>A N417K not reportedAsymptomatic: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 reportedAsymptomatic: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 VUSAsymptomatic:1
CFTR-RD:1
- -
Exon 10 c.1312A>G T438A not reportedAsymptomatic: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 VUSCFTR-RD:1
- -
Exon 10 c.1327G>T D443Y disease-causingAsymptomatic:5
CFTR-RD:63
Pending:3
- -
Exon 10 c.1331T>C I444T VUSCFTR-RD:3
- -
Exon 10 c.1355A>C Q452P VUSCF:2
Pending:1
- -
Exon 10 c.1358T>C L453S disease-causing - -
Exon 10 c.1364C>A A455E disease-causingCF:25
CFTR-RD:4
Pending:2
- -
Exon 10 c.1364C>T A455V VUSPending:1
- -
Exon 10 c.1366G>T V456F VUS - -
Exon 10 c.1367T>C V456A disease-causingCF:1
CFTR-RD:2
- -
Exon 10 c.1373G>T G458V VUSCF:2
CFTR-RD:1
- -
Exon 10 c.1388G>T G463V VUS - -
Exon 10 c.1390A>C K464Q VUSCF:1
- -
Exon 10 c.1392G>T K464N disease-causingCF:1
- -
Exon 11 c.1397C>T S466L VUSCFTR-RD:1
- -
Exon 11 c.1399C>T 1531C/T (L467F) VUSCF:9
CFTR-RD:5
- -
Exon 11 c.1405A>G M469V disease-causingCFTR-RD:5
- -
Exon 11 c.1408A>G M470V non disease-causingAsymptomatic:35
CF:345
CFTR-RD:532
Fetal bowel anomalies:11
Pending:59
- -
Exon 11 c.1408G>A V470M not reportedAsymptomatic: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-causingCF:1
CFTR-RD:1
- -
Exon 11 c.1429C>T P477S VUSCFTR-RD:1
- -
Exon 11 c.1438G>A G480S VUSPending:1
- -
Exon 11 c.1438G>T G480C VUS - -
Exon 11 c.1453A>T S485C VUSCFTR-RD:1
- -
Exon 11 c.1466C>T VUSCFTR-RD:1
- -
Exon 11 c.1471T>C C491R disease-causingCF:3
CFTR-RD:1
Pending:1
- -
Exon 11 c.1475C>T S492F disease-causingCF:6
CFTR-RD:1
- -
Exon 11 c.1494G>C M498I VUSCF:1
- -
Exon 11 c.1495C>T VUSCFTR-RD:2
- -
Exon 11 c.1499G>T VUSCFTR-RD:1
- -
Exon 11 c.1501A>G T501A disease-causingCF:1
CFTR-RD:1
- -
Exon 11 c.1505T>C I502T disease-causing - -
Exon 11 c.1516A>C I506L VUSCFTR-RD:1
Pending:1
- -
Exon 11 c.1516A>G I506V (1648A/G) VUSCF:1
CFTR-RD:3
Pending:1
- -
Exon 11 c.1517T>C I506T disease-causingCF: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 VUSCF:1
- -
Exon 11 c.1523T>G F508C disease-causingCF: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-causingCFTR-RD:1
Pending:1
- -
Exon 11 c.1555A>G S519G VUSCF:2
- -
Exon 11 c.1558G>A V520I VUSAsymptomatic:1
- -
Exon 11 c.1558G>T V520F disease-causingCF:1
- -
Exon 11 c.1562T>G VUSCF:1
- -
Exon 11 c.1568C>A VUSCFTR-RD:1
- -
Exon 11 c.1573C>A VUS - -
Exon 11 c.1580A>G E527G VUSCFTR-RD:1
- -
Exon 11 c.1583A>C VUSCFTR-RD:1
- -
Exon 12 c.1601C>A A534E VUSAsymptomatic:2
CFTR-RD:2
- -
Exon 12 c.1603G>A VUSCFTR-RD:1
- -
Exon 12 c.1609G>A D537N disease-causingPending (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 VUSCFTR-RD:1
- -
Exon 12 c.1631G>T G544V VUSCFTR-RD:2
- -
Exon 12 c.1645A>C S549R(A>C) disease-causingCF:1
CFTR-RD:1
- -
Exon 12 c.1646G>A S549N disease-causingCF:2
CFTR-RD:3
- -
Exon 12 c.1647T>G S549R(T>G) disease-causingCF:4
- -
Exon 12 c.1651G>A G551S disease-causing - -
Exon 12 c.1652G>A G551D disease-causingSuspicion 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 VUSCF:1
Pending:1
- -
Exon 12 c.1657C>G R553G VUSPending:1
- -
Exon 12 c.1658G>A R553Q VUS - -
Exon 12 c.1661C>A A554E VUS - -
Exon 12 c.1666A>G I556V disease-causingAsymptomatic: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-causingCF:6
CFTR-RD:1
- -
Exon 12 c.1675G>A A559T disease-causingCF:2
Pending:2
- -
Exon 12 c.1679G>A R560K disease-causingCF:6
- -
Exon 13 c.1680A>C R560S disease-causingCF:2
- -
Exon 13 c.1682C>A A561E disease-causingCF:1
- -
Exon 13 c.1684G>A V562I VUSCFTR-RD:1
Asymptomatic:1
CF:5
CFTR-RD:33
Pending:2
- AG: 0.03 (-2)
AL: 0.42 (1)
DG: 0.00 (31)
DL: 0.00 (1)
Exon 13 c.1684G>C V562L VUSCFTR-RD:3
- -
Exon 13 c.1687T>A Y563N disease-causingCF:1
- -
Exon 13 c.1690A>G VUSCFTR-RD:1
- -
Exon 13 c.1694A>G D565G disease-causing - -
Exon 13 c.1695T>G VUSCF:1
CFTR-RD:1
- -
Exon 13 c.1696G>A A566T VUSAsymptomatic:1
CFTR-RD:1
Pending:1
- -
Exon 13 c.1704G>T L568F VUSCFTR-RD:3
- -
Exon 13 c.1705T>C Y569H disease-causingCF:2
- -
Exon 13 c.1705T>G Y569D disease-causingCF:1
- -
Exon 13 c.1706A>G Y569C VUSCF:1
- -
Exon 13 c.1720C>T P574S VUSCFTR-RD:2
Pending:1
- -
Exon 13 c.1721C>A P574H disease-causingCF:1
CFTR-RD:2
Pending:1
- -
Exon 13 c.1721C>G VUSCFTR-RD:1
- -
Exon 13 c.1723T>G F575V VUSCFTR-RD:1
- -
Exon 13 c.1724T>A F575Y disease-causingCFTR-RD:1
Pending:2
- -
Exon 13 c.1727G>C G576A disease-causingAsymptomatic: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-causingCFTR-RD:1
- -
Exon 13 c.1745C>T T582I disease-causingSuspicion 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 VUSCFTR-RD:1
- -
Exon 13 c.1762G>A VUSCFTR-RD:1
- -
Exon 13 c.1763A>T E588V disease-causing - -
Exon 13 c.1766G>A S589N VUS - -
Exon 14 c.1769G>A VUSPending:1
- -
Exon 14 c.1781T>C L594P VUS - -
Exon 14 c.1783A>G VUSCFTR-RD:1
- -
Exon 14 c.1784T>C M595T VUSCF:1
- -
Exon 14 c.1792A>G VUSCFTR-RD:1
- -
Exon 14 c.1798A>G R600G VUSCF:3
- -
Exon 14 c.1800G>T VUSCF:1
- -
Exon 14 c.1801A>T I601F disease-causingCF:2
CFTR-RD:4
Fetal bowel anomalies:1
Pending:5
- -
Exon 14 c.1802T>C VUSCF:1
Pending:2
- -
Exon 14 c.1811C>T T604I disease-causingCF:2
Pending:1
- -
Exon 14 c.1819A>G VUS - -
Exon 14 c.1826A>G H609R disease-causingCF:1
CFTR-RD:1
- -
Exon 14 c.1826A>T H609L VUSCFTR-RD:1
- -
Exon 14 c.1841A>G D614G disease-causingCFTR-RD:4
Pending:2
- -
Exon 14 c.1847T>C VUS - -
Exon 14 c.1853T>A I618N VUSCF:1
- -
Exon 14 c.1853T>C I618T disease-causing - -
Exon 14 c.1853T>G I618S VUSCFTR-RD:1
- -
Exon 14 c.1865G>A G622D disease-causingAsymptomatic:1
CF:3
CFTR-RD:16
Fetal bowel anomalies:3
Pending:2
- -
Exon 14 c.1882G>A G628R(G->A) disease-causingCF:1
- -
Exon 14 c.1882G>C G628R(G->C) disease-causing - -
Exon 14 c.1897C>T VUSAsymptomatic:1
CFTR-RD:1
- -
Exon 14 c.1970G>A VUSAsymptomatic:1
- -
Exon 14 c.1990G>C E664Q VUSCFTR-RD:1
- -
Exon 14 c.2002C>T R668C disease-causingSuspicion 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 VUSAsymptomatic:2
CFTR-RD:1
- -
Exon 14 c.2074G>C E692Q VUSCFTR-RD:1
- -
Exon 14 c.2096A>G VUSAsymptomatic:1
- -
Exon 14 c.2145A>C Q715H VUSCFTR-RD:1
- -
Exon 14 c.2168G>T G723V VUSAsymptomatic:1
- -
Exon 14 c.2173G>A E725K VUSAsymptomatic:1
CF:1
CFTR-RD:1
Pending:1
- -
Exon 14 c.2179G>T D727Y not reportedPending (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 VUSPending (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-causingAsymptomatic:1
CFTR-RD:7
- -
Exon 14 c.2252G>T R751L VUS - -
Exon 14 c.2260G>A V754M non disease-causingAsymptomatic:2
CF:3
CFTR-RD:9
Pending:1
- -
Exon 14 c.2295G>T VUSAsymptomatic:1
Pending:1
- -
Exon 14 c.2297G>A R766K VUSCFTR-RD:1
- -
Exon 14 c.2335C>A VUSCFTR-RD:1
- -
Exon 14 c.2374C>G R792G VUS - -
Exon 14 c.2378A>T VUSCFTR-RD:1
- -
Exon 14 c.2395C>A Q799K VUSCFTR-RD:1
- -
Exon 14 c.2417A>G D806G VUSCFTR-RD:2
- -
Exon 14 c.2421A>G I807M ; 2553A/G disease-causingAsymptomatic:2
CFTR-RD:7
- -
Exon 14 c.2428A>G R810G VUSCFTR-RD:2
Pending:1
- -
Exon 14 c.2450G>T VUS - -
Exon 14 c.2464G>A E822K VUS - -
Exon 14 c.2476G>A E826K VUSCFTR-RD:1
- -
Exon 14 c.2483A>G D828G VUSCFTR-RD:1
- -
Exon 15 c.2502T>G VUSCFTR-RD:1
- -
Exon 15 c.2506G>T D836Y VUSAsymptomatic:2
CFTR-RD:2
- -
Exon 15 c.2522C>G P841R VUSCFTR-RD:1
- -
Exon 15 c.2540A>G VUS - -
Exon 15 c.2552G>T R851L VUSCF:1
CFTR-RD:2
- -
Exon 15 c.2563G>A V855I VUSCFTR-RD:1
- -
Exon 15 c.2596T>C C866R VUSCFTR-RD:1
- -
Exon 15 c.2597G>A C866Y VUS - -
Exon 15 c.2598C>G C866W VUSCFTR-RD:1
- -
Exon 17 c.2669A>G Q890R VUSAsymptomatic:1
- -
Exon 17 c.2672A>G D891G VUSCFTR-RD:1
- -
Exon 17 c.2695A>G VUSCFTR-RD:1
- -
Exon 17 c.2699A>C N900T VUSAsymptomatic:1
- -
Exon 17 c.2706C>G S902R disease-causingCF:1
CFTR-RD:1
- -
Exon 17 c.2719A>G 2851A/G VUSAsymptomatic:1
CFTR-RD:1
- -
Exon 17 c.2723C>A T908N disease-causingCFTR-RD:2
- -
Exon 17 c.2735C>G S912W VUSCFTR-RD:1
- -
Exon 17 c.2735C>T S912L VUSAsymptomatic:1
CF:1
CFTR-RD:2
Fetal bowel anomalies:1
- -
Exon 17 c.2743G>C V915L VUSAsymptomatic:2
- -
Exon 17 c.2754T>G I918M VUSCFTR-RD:1
- -
Exon 17 c.2756A>G Y919C VUSAsymptomatic:2
Pending:1
- -
Exon 17 c.2758G>A V920M VUSCF:2
CFTR-RD:5
Pending:1
- -
Exon 17 c.2758G>T V920L VUSCFTR-RD:2
- -
Exon 17 c.2770G>A D924N VUSCF:1
CFTR-RD:2
Pending:1
- -
Exon 17 c.2770G>C VUSPending:1
- -
Exon 17 c.2780T>C L927P disease-causingCF:1
CFTR-RD:1
- -
Exon 17 c.2797A>G R933G disease-causingCF:2
CFTR-RD:3
Pending:1
- -
Exon 17 c.2813T>G V938G disease-causingCFTR-RD:8
- -
Exon 17 c.2816A>G H939R disease-causingCF:1
CFTR-RD:1
- -
Exon 17 c.2834C>T S945L disease-causingCF:15
CFTR-RD:9
Pending:3
- -
Exon 17 c.2846A>G H949R VUSCFTR-RD:1
- -
Exon 17 c.2846A>T H949L VUSCFTR-RD:2
- -
Exon 17 c.2851A>G VUSFetal bowel anomalies:1
- -
Exon 17 c.2855T>C M952T VUSCFTR-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-causingCFTR-RD:11
- -
Exon 17 c.2876C>T A959V VUS - -
Exon 17 c.2900T>C L967S VUSAsymptomatic:3
CF:3
CFTR-RD:4
Fetal bowel anomalies:1
Pending:6
- -
Exon 17 c.2908G>C G970R disease-causingCF:4
CFTR-RD:1
- -
Exon 18 c.2909G>A G970D VUSCF:2
- -
Exon 18 c.2909G>T VUSPending:1
- -
Exon 18 c.2930C>T S977F disease-causingAsymptomatic:1
CF:4
CFTR-RD:10
Pending:3
- -
Exon 18 c.2936A>C D979A VUSCFTR-RD:1
- -
Exon 18 c.2936A>T D979V disease-causingCF:1
- -
Exon 18 c.2939T>A I980K disease-causingAsymptomatic:1
CFTR-RD:9
- -
Exon 18 c.2940A>G I980M VUSCFTR-RD:1
- -
Exon 18 c.2946T>G VUSCFTR-RD:1
- -
Exon 18 c.2953G>C D985H VUSCF:1
- -
Exon 18 c.2953G>T D985Y VUSCF:1
- -
Exon 18 c.2957T>C VUSCFTR-RD:1
- -
Exon 18 c.2973A>G I991M VUSCFTR-RD:1
- -
Exon 18 c.2977G>T D993Y disease-causingCF:7
- -
Exon 18 c.2978A>G D993G VUS - -
Exon 18 c.2981T>G F994C VUSCFTR-RD:1
- -
Exon 18 c.2987A>T VUS - -
Exon 19 c.2991G>C L997F disease-causingCFTR-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 VUSCF:2
- -
Exon 19 c.3017C>A A1006E disease-causingCF:1
- -
Exon 19 c.3038C>A P1013H VUSCFTR-RD:3
Pending:1
- -
Exon 19 c.3038C>T P1013L VUSCFTR-RD:1
- -
Exon 19 c.3041A>G Y1014C VUSCFTR-RD:1
Pending:1
- -
Exon 19 c.3047T>C F1016S disease-causing - -
Exon 19 c.3059T>A V1020E VUSCF:1
- -
Exon 19 c.3080T>C I1027T VUSSuspicion 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 VUSCFTR-RD:4
- -
Exon 19 c.3095A>G Y1032C disease-causingAsymptomatic:1
CFTR-RD:5
Pending:1
- -
Exon 19 c.3107C>A T1036N disease-causing - -
Exon 19 c.3131A>G VUSCF:1
- -
Exon 20 c.3148C>G P1050A VUSCFTR-RD:1
- -
Exon 20 c.3151A>G I1051V VUSAsymptomatic:1
- -
Exon 20 c.3154T>G F1052V disease-causingPending (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-causingCF:11
CFTR-RD:2
Pending:1
- -
Exon 20 c.3160C>T VUSCFTR-RD:3
- -
Exon 20 c.3170C>G VUSCF:1
CFTR-RD:3
- -
Exon 20 c.3179A>C K1060T VUS - -
Exon 20 c.3181G>A VUS - -
Exon 20 c.3181G>C G1061R disease-causingCF:4
Pending:1
- -
Exon 20 c.3194T>C L1065P disease-causingCF:4
- -
Exon 20 c.3196C>T R1066C disease-causingCF:15
CFTR-RD:4
Pending:1
- -
Exon 20 c.3197G>A R1066H disease-causingCF:5
- -
Exon 20 c.3197G>C R1066P disease-causingCF:1
- -
Exon 20 c.3197G>T R1066L disease-causingCF:2
- -
Exon 20 c.3199G>A A1067T VUSCFTR-RD:2
Fetal bowel anomalies:1
- -
Exon 20 c.3200C>T A1067V VUSCFTR-RD:1
- -
Exon 20 c.3205G>A G1069R disease-causingCFTR-RD:9
- -
Exon 20 c.3208C>T R1070W disease-causingAsymptomatic:1
CF:4
CFTR-RD:13
Pending:2
- -
Exon 20 c.3209G>A R1070Q disease-causingCF:2
- -
Exon 20 c.3222T>A F1074L VUSCFTR-RD:1
- -
Exon 20 c.3230T>C L1077P disease-causingCF:2
CFTR-RD:1
Fetal bowel anomalies:1
- -
Exon 20 c.3233T>C VUSCFTR-RD:1
- -
Exon 20 c.3238A>C K1080Q VUS - -
Exon 20 c.3241G>C A1081P VUSCFTR-RD:1
- -
Exon 20 c.3254A>C H1085P VUS - -
Exon 20 c.3254A>G H1085R disease-causingCF:3
- -
Exon 20 c.3256A>G T1086A VUSAsymptomatic:1
- -
Exon 20 c.3257C>T T1086I VUSCF:1
- -
Exon 20 c.3262A>G N1088D VUSCFTR-RD:1
- -
Exon 20 c.3274T>C Y1092H VUSCF:2
CFTR-RD:1
- -
Exon 20 c.3290G>A R1097H VUSAsymptomatic:1
- -
Exon 20 c.3292T>C W1098R disease-causingCF:1
- -
Exon 20 c.3294G>C disease-causingPending (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-causingCFTR-RD:1
- -
Exon 20 c.3299A>C Q1100P VUS - -
Exon 20 c.3302T>A M1101K disease-causingCF:5
- -
Exon 20 c.3302T>G M1101R disease-causing - -
Exon 20 c.3322G>C V1108L VUSAsymptomatic:1
CFTR-RD:2
- -
Exon 20 c.3340G>C V1114L VUSCFTR-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-causingCFTR-RD:1
- -
Exon 21 c.3380G>A G1127E VUSAsymptomatic:1
CFTR-RD:2
- -
Exon 21 c.3382A>G VUSCFTR-RD:1
- -
Exon 21 c.3406G>A A1136T VUSCFTR-RD:1
- -
Exon 21 c.3409A>G M1137V VUSCFTR-RD:2
- -
Exon 21 c.3410T>G M1137R disease-causing - -
Exon 21 c.3415A>G I1139V disease-causingAsymptomatic:1
CFTR-RD:4
- -
Exon 21 c.3422G>A VUSCFTR-RD:1
- -
Exon 21 c.3443A>G N1148S VUSCF:1
- -
Exon 21 c.3454G>C D1152H disease-causingCF: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-causingAsymptomatic:1
CFTR-RD:5
Pending:1
- -
Exon 21 c.3460G>A VUSCFTR-RD:1
- -
Exon 21 c.3461A>G D1154G disease-causingCFTR-RD:2
- -
Exon 21 c.3461A>T VUSCFTR-RD:1
- -
Exon 22 c.3471G>A M1157I VUSCFTR-RD:1
- -
Exon 22 c.3473G>T R1158L VUSCFTR-RD:1
- -
Exon 22 c.3475T>C S1159P disease-causing - -
Exon 22 c.3476C>T S1159F disease-causingAsymptomatic:1
CF:2
- -
Exon 22 c.3485G>T 3617G/T disease-causingCFTR-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 VUSCF:1
- -
Exon 22 c.3562T>C S1188P VUSCFTR-RD:1
- -
Exon 22 c.3590A>T VUSCFTR-RD:1
- -
Exon 22 c.3628A>G VUSCFTR-RD:1
- -
Exon 22 c.3689T>C I1230T VUS - -
Exon 22 c.3700A>G I1234V disease-causingCF:6
CFTR-RD:1
- -
Exon 22 c.3705T>G S1235R VUSAsymptomatic:17
CF:5
CFTR-RD:33
Pending:1
- -
Exon 22 c.3713A>G Q1238R VUSFetal bowel anomalies:1
- -
Exon 22 c.3644_3645delinsAT L1215H VUSCF:1
- -
Exon 23 c.3719T>G V1240G disease-causing - -
Exon 23 c.3731G>A G1244E disease-causingPending (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-causingCF:1
CFTR-RD:2
- -
Exon 23 c.3745G>A G1249R disease-causingCF:7
CFTR-RD:1
- -
Exon 23 c.3746G>A G1249E disease-causingCF:1
- -
Exon 23 c.3752G>A S1251N disease-causingCF:16
CFTR-RD:2
- -
Exon 23 c.3754A>C T1252P VUSCF:1
- -
Exon 23 c.3806T>A I1269N disease-causing - -
Exon 23 c.3808G>A D1270N disease-causingCFTR-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 VUSCFTR-RD:1
- -
Exon 23 c.3844T>C W1282R VUS - -
Exon 23 c.3846G>T W1282C VUSCFTR-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 VUSCFTR-RD:1
- -
Exon 23 c.3854C>T VUSCF:1
- -
Exon 23 c.3857T>C F1286S disease-causingCF:2
- -
Exon 23 c.3868C>A P1290T VUSAsymptomatic:1
- -
Exon 23 c.3872A>G Q1291R disease-causingCF:2
CFTR-RD:1
- -
Exon 24 c.3878T>G V1293G VUS - -
Exon 24 c.3896C>T T1299I VUSCF:1
CFTR-RD:2
- -
Exon 24 c.3907A>C N1303H VUSCF:1
- -
Exon 24 c.3908A>T N1303I disease-causingCFTR-RD:7
Pending:4
- -
Exon 24 c.3909C>G N1303K disease-causingAsymptomatic: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 VUSCFTR-RD:1
- -
Exon 24 c.3923A>C VUSCFTR-RD:1
- -
Exon 24 c.3927G>T Q1309H VUSCFTR-RD:1
- -
Exon 24 c.3935A>G D1312G VUSAsymptomatic:1
CFTR-RD:2
- -
Exon 24 c.3937C>A Q1313K VUSCF:2
- -
Exon 24 c.3953T>C V1318A VUSCFTR-RD:1
- -
Exon 25 c.3971T>C L1324P VUSCF:1
Pending:1
- -
Exon 25 c.3983T>C VUSCFTR-RD:1
- -
Exon 25 c.4004T>C L1335P disease-causingCF:1
- -
Exon 25 c.4015C>T L1339F VUSCFTR-RD:1
- -
Exon 25 c.4027G>A VUS - -
Exon 25 c.4046G>A G1349D disease-causingCF:1
CFTR-RD:1
- -
Exon 25 c.4056G>C Q1352H(G>C) disease-causingAsymptomatic:2
CFTR-RD:9
- -
Exon 25 c.4056G>T Q1352H(G>T) VUSAsymptomatic:1
CFTR-RD:4
- -
Exon 25 c.4061T>C VUSCFTR-RD:1
- -
Exon 25 c.4064G>T VUSPending:1
- -
Exon 25 c.4085G>A VUSCFTR-RD:1
- -
Exon 25 c.4091C>T A1364V VUSCFTR-RD:1
- -
Exon 25 c.4097T>A I1366N disease-causing - -
Exon 25 c.4097T>C I1366T disease-causingCFTR-RD:8
Pending:2
- -
Exon 25 c.4124A>C H1375P disease-causing - -
Exon 25 c.4124A>G VUSCFTR-RD:1
- -
Exon 25 c.4127T>C VUSCFTR-RD:1
- -
Exon 25 c.4129G>C D1377H disease-causingCFTR-RD:2
- -
Exon 25 c.4053_4054delinsAG VUSAsymptomatic:1
- -
Exon 26 c.4139C>T T1380I VUSCFTR-RD:1
- -
Exon 26 c.4147A>G VUSAsymptomatic:1
- -
Exon 26 c.4186A>C T1396P VUSCFTR-RD:1
- -
Exon 26 c.4202A>G E1401G VUSCFTR-RD:1
- -
Exon 26 c.4220T>C M1407T VUS - -
Exon 26 c.4225G>A E1409K VUSCFTR-RD:1
Pending:1
- -
Exon 27 c.4264C>T R1422W VUSCF:1
- -
Exon 27 c.4275T>A D1425E VUSAsymptomatic:1
- -
Exon 27 c.4276T>C S1426P disease-causingCFTR-RD:1
- -
Exon 27 c.4277C>T S1426F VUSCFTR-RD:1
- -
Exon 27 c.4297G>A VUSCFTR-RD:2
- -
Exon 27 c.4333G>A D1445N VUSCFTR-RD:4
- -
Exon 27 c.4357C>T R1453W VUSCFTR-RD:1
- -
Exon 27 c.4439T>C L1480P VUSCFTR-RD:1
- -





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