| UTR 5 |
c.-85C>G |
48C/G |
non disease-causing |
| UTR 5 |
c.-8G>C |
125G/C |
non disease-causing |
| UTR 5 |
c.-966T>G |
-834T/G ; -895T/G (from the cap site) |
non disease-causing |
| UTR 5 |
c.(?_-1)_(*1_?)del |
CFTRdele1-24 |
disease-causing |
| UTR 5 |
c.-276_53+2553del |
|
disease-causing |
| UTR 5 |
c.-6186_273+507dup |
CFTRdup1-3 |
disease-causing |
| UTR 5 |
c.-165G>A |
-33G>A |
VUS |
| UTR 5 |
c.-226G>T |
|
VUS |
| UTR 5 |
c.-234T>A |
-102T>A |
VUS |
| UTR 5 |
c.-274C>A |
|
VUS |
| UTR 5 |
c.-288G>C |
|
VUS |
| UTR 5 |
c.-2C>T |
|
VUS |
| UTR 5 |
c.-330T>G |
|
VUS |
| UTR 5 |
c.-34C>T |
99C/T |
VUS |
| UTR 5 |
c.-461A>G |
-329A/G |
VUS |
| UTR 5 |
c.-4G>C |
129G/C |
VUS |
| Exon 1 |
c.2T>A |
M1K |
disease-causing |
| Exon 1 |
c.40A>T |
K14X |
disease-causing |
| Exon 1 |
c.31G>A |
163G/A |
VUS |
| Exon 1 |
c.11C>A |
S4X |
disease-causing |
| Intron 1 |
c.54-4235_164+377dup4723 |
|
disease-causing |
| Intron 1 |
c.54-13C>G |
186-13C>G |
VUS |
| Exon 1 |
c.25dup |
|
disease-causing |
| Exon 1 |
c.3G>A |
M1I(ATA) |
disease-causing |
| Exon 1 |
c.26C>T |
A9V |
VUS |
| Intron 1 |
c.54-1161_164+1603del |
CFTR-dele2 |
disease-causing |
| Intron 1 |
c.53+4A>T |
185+4A>T |
VUS |
| Exon 1 |
c.38C>T |
S13F |
disease-causing |
| Exon 1 |
c.4C>T |
Q2X (together with R3W) |
disease-causing |
| Exon 1 |
c.37T>C |
S13P |
likely pathogenic |
| Exon 1 |
c.1A>G |
M1V |
disease-causing |
| Intron 1 |
c.53+1G>T |
185+1G>T |
disease-causing |
| Intron 1 |
c.54-5940_273+10250del |
CFTRdele2,3 ; Del exon 2-3 |
disease-causing |
| Exon 1 |
c.2T>C |
M1T |
disease-causing |
| Exon 1 |
c.49_50dup |
|
disease-causing |
| Exon 1 |
c.8G>T |
R3M |
VUS |
| Exon 1 |
c.14C>T |
P5L |
disease-causing |
| Intron 1 |
c.53+3158A>G |
|
non disease-causing |
| Intron 1 |
c.54-5811_164+2186delins182 |
|
disease-causing |
| Intron 1 |
c.54-589A>G |
|
likely benign |
| Exon 2 |
c.131A>G |
D44G |
disease-causing |
| Exon 2 |
c.57G>A |
W19X |
disease-causing |
| Exon 2 |
c.157T>G |
L53V |
VUS |
| Exon 2 |
c.91C>T |
R31C ; 223C/T |
likely benign |
| Intron 2 |
c.165-3C>T |
297-3C>T |
disease-causing |
| Exon 2 |
c.100_117del |
232del18 |
disease-causing |
| Exon 2 |
c.154A>T |
K52X |
disease-causing |
| Exon 2 |
c.122C>G |
P41R |
VUS |
| Exon 2 |
c.80G>A |
G27E |
VUS |
| Intron 2 |
c.165-2A>C |
|
disease-causing |
| Exon 2 |
c.148T>C |
S50P |
disease-causing |
| Exon 2 |
c.106G>A |
D36N |
VUS |
| Exon 2 |
c.79G>C |
G27R(211G to C) |
VUS |
| Exon 2 |
c.95T>C |
L32P |
likely pathogenic |
| Intron 2 |
c.164+28A>G |
296+ 28A- >G |
VUS |
| Intron 2 |
c.164+1G>C |
296+1G>C |
disease-causing |
| Exon 2 |
c.137C>A |
A46D |
disease-causing |
| Exon 2 |
c.79G>T |
G27X |
disease-causing |
| Exon 2 |
c.164G>A |
R55K |
VUS |
| Exon 2 |
c.125C>T |
S42F |
likely pathogenic |
| Intron 2 |
c.[165-291_1585-8528delins39;2619+2288_2989-839delins16] |
CFTRdele3-10,14b-16 |
disease-causing |
| Exon 3 |
c.258C>G |
I86M |
VUS |
| Exon 3 |
c.224G>A |
R75Q |
non disease-causing |
| Exon 3 |
c.170G>A |
W57X(TAG) |
disease-causing |
| Exon 3 |
c.178G>A |
E60K |
disease-causing |
| Exon 3 |
c.222_223delinsA |
|
disease-causing |
| Exon 3 |
c.236G>A |
W79X |
disease-causing |
| Exon 3 |
c.263T>G |
L88X |
disease-causing |
| Exon 3 |
c.215C>A |
A72D |
VUS |
| Intron 3 |
c.274-6T>C |
406-6T>C |
non disease-causing |
| Intron 3 |
c.274-1G>T |
406-1G>T |
disease-causing |
| Intron 3 |
c.273+4A>G |
405+ 4A- >G |
VUS |
| Exon 3 |
c.250T>C |
Y84H |
VUS |
| Exon 3 |
c.228T>G |
C76W |
likely pathogenic |
| Exon 3 |
c.221G>A |
R74Q |
non disease-causing |
| Exon 3 |
c.169T>G |
W57G |
disease-causing |
| Exon 3 |
c.175dup |
306insA |
disease-causing |
| Exon 3 |
c.220C>T |
R74W |
disease-causing |
| Exon 3 |
c.233dup |
359insT ; 360-365insT ; 365-366insT (W79fs) |
disease-causing |
| Exon 3 |
c.262_263del |
394delTT |
disease-causing |
| Exon 3 |
c.202A>G |
K68E |
VUS |
| Intron 3 |
c.273+46T>G |
405+46G/T |
non disease-causing |
| Intron 3 |
c.274-1G>C |
406-1G>C |
disease-causing |
| Intron 3 |
c.273+27A>G |
|
VUS |
| Exon 3 |
c.244A>G |
M82V |
VUS |
| Exon 3 |
c.224G>T |
R75L |
likely pathogenic |
| Exon 3 |
c.168del |
300delA |
disease-causing |
| Exon 3 |
c.174_177del |
306delTAGA |
disease-causing |
| Exon 3 |
c.200C>T |
P67L |
disease-causing |
| Exon 3 |
c.233del |
360delT |
disease-causing |
| Exon 3 |
c.254G>T |
G85V |
disease-causing |
| Exon 3 |
c.173A>G |
D58G |
VUS |
| Intron 3 |
c.273+1G>A |
405+1G>A |
disease-causing |
| Intron 3 |
c.274-3397_489+710del |
dele4 |
disease-causing |
| Exon 3 |
c.235T>C |
W79R |
VUS |
| Exon 3 |
c.259T>C |
F87L |
VUS |
| Exon 3 |
c.166G>A |
E56K |
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.254G>A |
G85E |
disease-causing |
| Exon 3 |
c.271G>A |
G91R |
disease-causing |
| Intron 3 |
c.(273+1_274-1)_(1584+1_1585-1)dup |
|
disease-causing |
| Intron 3 |
c.274-2A>G |
406- 2A- >G |
disease-causing |
| Exon 4 |
c.443T>C |
I148T |
non disease-causing |
| Exon 4 |
c.296C>T |
P99L |
disease-causing |
| Exon 4 |
c.327T>A |
Y109X |
disease-causing |
| Exon 4 |
c.346G>A |
E116K |
disease-causing |
| Exon 4 |
c.350G>T |
R117L |
disease-causing |
| Exon 4 |
c.473G>C |
S158T |
VUS |
| Exon 4 |
c.410_416del |
|
disease-causing |
| Exon 4 |
c.314T>A |
I105N |
likely pathogenic |
| Exon 4 |
c.454A>G |
M152V |
disease-causing |
| Exon 4 |
c.472A>G |
S158G |
likely pathogenic |
| Exon 4 |
c.287C>A |
A96E |
VUS |
| Exon 4 |
c.357C>G |
I119M |
VUS |
| Exon 4 |
c.410T>G |
L137R |
VUS |
| Exon 4 |
c.454A>T |
M152L |
VUS |
| Intron 4 |
c.489+3A>G |
621+3A>G |
disease-causing |
| Intron 4 |
c.490-165T>C |
|
VUS |
| Exon 4 |
c.296C>G |
P99R |
disease-causing |
| Exon 4 |
c.325_327delinsG |
457TAT>G |
disease-causing |
| Exon 4 |
c.332C>T |
P111L |
disease-causing |
| Exon 4 |
c.350G>A |
R117H |
disease-causing |
| Exon 4 |
c.473G>A |
S158N |
VUS |
| Exon 4 |
c.409_412del |
541del4 |
disease-causing |
| Exon 4 |
c.305T>C |
L102P |
likely pathogenic |
| Exon 4 |
c.445G>A |
G149R |
disease-causing |
| Exon 4 |
c.422C>A |
A141D |
likely pathogenic |
| Exon 4 |
c.283A>G |
K95E |
VUS |
| Exon 4 |
c.355A>G |
I119V |
VUS |
| Exon 4 |
c.365A>G |
Y122C |
VUS |
| Exon 4 |
c.451C>A |
Q151K |
VUS |
| Intron 4 |
c.489+2T>G |
621+2T>G |
disease-causing |
| Intron 4 |
c.489+76T>C |
|
VUS |
| Exon 4 |
c.293A>G |
Q98R |
disease-causing |
| Exon 4 |
c.323C>T |
S108F |
disease-causing |
| Exon 4 |
c.330C>A |
D110E |
disease-causing |
| Exon 4 |
c.349C>T |
R117C |
disease-causing |
| Exon 4 |
c.472A>C |
S158R |
VUS |
| Exon 4 |
c.377G>A |
G126D |
disease-causing |
| Exon 4 |
c.487A>C |
K163Q |
VUS |
| Exon 4 |
c.442del |
574delA |
disease-causing |
| Exon 4 |
c.358G>A |
A120T |
likely pathogenic |
| Exon 4 |
c.278T>G |
V93G |
VUS |
| Exon 4 |
c.302T>C |
L101S |
VUS |
| Exon 4 |
c.360G>A |
A120A (492G/A) |
VUS |
| Exon 4 |
c.437A>G |
H146R |
VUS |
| Intron 4 |
c.489+2T>C |
621+2T>C |
disease-causing |
| Intron 4 |
c.489+33T>C |
|
VUS |
| Exon 4 |
c.274G>A |
E92K |
disease-causing |
| Exon 4 |
c.308del |
|
disease-causing |
| Exon 4 |
c.328G>C |
D110H |
disease-causing |
| Exon 4 |
c.349C>G |
R117G |
disease-causing |
| Exon 4 |
c.366T>A |
Y122X |
disease-causing |
| Exon 4 |
c.476T>C |
L159S |
VUS |
| Exon 4 |
c.433C>G |
L145V |
disease-causing |
| Exon 4 |
c.350G>C |
R117P |
likely pathogenic |
| Exon 4 |
c.481T>A |
Y161N |
disease-causing |
| Exon 4 |
c.298C>G |
L100V |
VUS |
| Exon 4 |
c.357C>T |
|
VUS |
| Exon 4 |
c.415C>T |
H139Y |
VUS |
| Intron 4 |
c.489+1G>T |
621+1G>T |
disease-causing |
| Intron 4 |
c.490-3T>G |
|
disease-causing |
| Intron 4 |
c.490-23_490-4del |
|
VUS |
| Exon 5 |
c.531dup |
|
disease-causing |
| Exon 5 |
c.571T>G |
F191V |
disease-causing |
| Exon 5 |
c.527G>T |
S176I |
VUS |
| Exon 5 |
c.574G>A |
D192N |
VUS |
| Intron 5 |
c.580-1G>T |
712-1G>T |
disease-causing |
| Exon 5 |
c.523A>G |
I175V |
disease-causing |
| Exon 5 |
c.558C>A |
N186K |
disease-causing |
| Exon 5 |
c.508C>T |
R170C |
VUS |
| Exon 5 |
c.547C>A |
L183I |
VUS |
| Intron 5 |
c.579+3A>G |
711+3A>G |
disease-causing |
| Exon 5 |
c.509G>A |
R170H |
disease-causing |
| Exon 5 |
c.543_546del |
675del4 |
disease-causing |
| Exon 5 |
c.490A>C |
T164P |
VUS |
| Exon 5 |
c.544A>C |
S182R |
VUS |
| Intron 5 |
c.579+1G>T |
711+1G>T |
disease-causing |
| Intron 5 |
c.580-92T>A |
712-92T/A |
VUS |
| Exon 5 |
c.494T>C |
L165S |
disease-causing |
| Exon 5 |
c.532G>A |
G178R |
disease-causing |
| Exon 5 |
c.577G>T |
E193X |
disease-causing |
| Exon 5 |
c.535C>A |
Q179K |
VUS |
| Exon 5 |
c.500T>G |
L167R |
likely pathogenic |
| Intron 5 |
c.580-62T>G |
|
VUS |
| Exon 6 |
c.601del |
733delG |
disease-causing |
| Exon 6 |
c.617T>G |
L206W |
disease-causing |
| Exon 6 |
c.671del |
|
disease-causing |
| Exon 6 |
c.723_743+1del |
852del22 |
disease-causing |
| Exon 6 |
c.674G>A |
C225Y |
VUS |
| Exon 6 |
c.721G>T |
G241W |
VUS |
| Exon 6 |
c.586dup |
|
disease-causing |
| Intron 6 |
c.744-33GATT[6] |
TTGA repeats |
non disease-causing |
| Intron 6 |
c.744-33GATT[4] |
|
VUS |
| Exon 6 |
c.598T>A |
F200I |
disease-causing |
| Exon 6 |
c.613_870-1547del |
|
disease-causing |
| Exon 6 |
c.658C>T |
Q220X |
disease-causing |
| Exon 6 |
c.709C>G |
Q237E |
disease-causing |
| Exon 6 |
c.627A>G |
A209A (759A/G) |
VUS |
| Exon 6 |
c.715G>A |
G239R |
VUS |
| Exon 6 |
c.581G>T |
G194V |
disease-causing |
| Intron 6 |
c.743+40A>G |
875+40A/G |
non disease-causing |
| Intron 6 |
c.744-10_744-3del |
876-10del8 |
VUS |
| Exon 6 |
c.596A>G |
H199R |
disease-causing |
| Exon 6 |
c.613C>T |
P205S |
disease-causing |
| Exon 6 |
c.647G>A |
W216X |
disease-causing |
| Exon 6 |
c.695T>A |
V232D |
disease-causing |
| Exon 6 |
c.618G>T |
L206F |
VUS |
| Exon 6 |
c.710A>T |
Q237L |
VUS |
| Exon 6 |
c.731T>A |
M244K |
likely pathogenic |
| Exon 6 |
c.650A>G |
E217G |
non disease-causing |
| Intron 6 |
c.744-33GATT[8] |
TTGA repeats |
non disease-causing |
| Exon 6 |
c.601G>A |
V201M |
disease-causing |
| Exon 6 |
c.619C>T |
Q207X |
disease-causing |
| Exon 6 |
c.680T>G |
L227R |
disease-causing |
| Exon 6 |
c.617T>C |
L206S |
VUS |
| Exon 6 |
c.701C>A |
A234D |
VUS |
| Exon 6 |
c.609C>G |
I203M |
likely pathogenic |
| Exon 6 |
c.595C>T |
H199Y |
disease-causing |
| Intron 6 |
c.744-33GATT[7] |
TTGA repeats |
non disease-causing |
| Intron 6 |
c.744-14_744-3del |
876-14del12 |
likely pathogenic |
| Exon 7 |
c.769G>T |
E257X |
disease-causing |
| Exon 7 |
c.825C>G |
Y275X |
disease-causing |
| Exon 7 |
c.774A>C |
R258S |
VUS |
| Intron 7 |
c.869+5G>A |
|
disease-causing |
| Intron 7 |
c.870-1101T>C |
|
VUS |
| Exon 7 |
c.755delinsGCTGGGAAGAT |
|
disease-causing |
| Exon 7 |
c.808C>T |
Q270X |
disease-causing |
| Exon 7 |
c.745G>T |
D249Y |
VUS |
| Exon 7 |
c.859A>T |
N287Y |
VUS |
| Intron 7 |
c.(869+1_870-1)_(1584+1_1585-1)del |
|
disease-causing |
| Intron 7 |
c.870-1095A>G |
|
VUS |
| Intron 7 |
c.869+5G>T |
|
likely pathogenic |
| Exon 7 |
c.773del |
905delG |
disease-causing |
| Exon 7 |
c.868C>T |
Q290X |
disease-causing |
| Exon 7 |
c.846A>T |
E282D |
VUS |
| Intron 7 |
c.869+11C>T |
1001+11C/T |
non disease-causing |
| Intron 7 |
c.870-12T>A |
|
disease-causing |
| Intron 7 |
c.869+88T>A |
|
likely benign |
| Exon 7 |
c.772A>G |
R258G |
disease-causing |
| Exon 7 |
c.861_865del |
991del5 |
disease-causing |
| Exon 7 |
c.837A>T |
E279D |
VUS |
| Intron 7 |
c.870-1113_870-1110del |
|
disease-causing |
| Intron 7 |
c.870-1125A>G |
|
VUS |
| Exon 8 |
c.1081del |
1213delT |
disease-causing |
| Exon 8 |
c.1093_1094del |
1221delCT |
disease-causing |
| Exon 8 |
c.935_937del |
ΔF311 |
disease-causing |
| Exon 8 |
c.1002del |
I336delG |
VUS |
| Exon 8 |
c.1064C>T |
P355L |
VUS |
| Exon 8 |
c.1052C>G |
T351S |
non disease-causing |
| Exon 8 |
c.1001G>T |
R334L |
disease-causing |
| Exon 8 |
c.1029del |
1161delC |
disease-causing |
| Exon 8 |
c.1054C>T |
R352W |
disease-causing |
| Exon 8 |
c.874G>A |
E292K |
VUS |
| Exon 8 |
c.926C>G |
A309G |
VUS |
| Exon 8 |
c.964G>A |
V322M (1096(G/A)) |
VUS |
| Intron 8 |
c.1116+1G>A |
1248+1G>A |
disease-causing |
| Exon 8 |
c.1090T>C |
S364P |
disease-causing |
| Exon 8 |
c.933C>G |
F311L |
disease-causing |
| Exon 8 |
c.959T>A |
L320X |
disease-causing |
| Exon 8 |
c.1054C>G |
R352G |
VUS |
| Exon 8 |
c.1001G>A |
R334Q |
disease-causing |
| Exon 8 |
c.1013C>T |
T338I |
disease-causing |
| Exon 8 |
c.1040G>T |
R347L |
disease-causing |
| Exon 8 |
c.1076A>G |
Q359R |
disease-causing |
| Exon 8 |
c.1116G>A |
|
VUS |
| Exon 8 |
c.920G>A |
S307N |
VUS |
| Exon 8 |
c.958T>G |
L320V |
VUS |
| Exon 8 |
c.1039C>T |
R347C |
likely pathogenic |
| Exon 8 |
c.1083del |
1215delG |
disease-causing |
| Exon 8 |
c.912C>G |
Y304X |
disease-causing |
| Exon 8 |
c.959del |
|
disease-causing |
| Exon 8 |
c.1046C>T |
A349V |
VUS |
| Exon 8 |
c.1070C>T |
A357V |
VUS |
| Exon 8 |
c.1000C>T |
R334W |
disease-causing |
| Exon 8 |
c.1008_1019dup |
1151ins12 |
disease-causing |
| Exon 8 |
c.1040G>C |
R347P |
disease-causing |
| Exon 8 |
c.1057C>T |
Q353X |
disease-causing |
| Exon 8 |
c.902A>G |
Y301C |
VUS |
| Exon 8 |
c.941G>T |
G314V |
VUS |
| Exon 8 |
c.980T>G |
L327R |
VUS |
| Intron 8 |
c.1116+4_1116+10delinsTATACATAGTAT |
|
VUS |
| Exon 8 |
c.1081T>C |
W361R(T>C) |
disease-causing |
| Exon 8 |
c.874G>T |
E292X |
disease-causing |
| Exon 8 |
c.948del |
1078delT |
disease-causing |
| Exon 8 |
c.1043T>A |
M348K |
VUS |
| Exon 8 |
c.1069G>A |
A357T |
VUS |
| Exon 8 |
c.890G>A |
R297Q |
non disease-causing |
| Exon 8 |
c.1007T>A |
I336K |
disease-causing |
| Exon 8 |
c.1040G>A |
R347H |
disease-causing |
| Exon 8 |
c.1055G>A |
R352Q |
disease-causing |
| Exon 8 |
c.899C>A |
A300D |
VUS |
| Exon 8 |
c.941G>C |
G314A |
VUS |
| Exon 8 |
c.979C>G |
L327V |
VUS |
| Intron 8 |
c.1117-5A>G |
1249-5A>G |
disease-causing |
| Exon 9 |
c.1130dup |
|
disease-causing |
| Exon 9 |
c.1203G>A |
W401X(TGA) |
disease-causing |
| Exon 9 |
c.1125A>C |
L375F |
VUS |
| Exon 9 |
c.1177G>C |
V393L |
VUS |
| Intron 9 |
c.1210-34_1210-6TG[11]T[7] |
TG11T7 |
non disease-causing |
| Intron 9 |
c.1210-34_1210-6TG[13]T[7] |
TG13T7 |
non disease-causing |
| Intron 9 |
c.1210-12T[5] |
poly-T tract variations |
disease-causing |
| Intron 9 |
c.1209+18A>C |
1341+18A>C |
VUS |
| Intron 9 |
c.1210-34_1210-6TG[12]T[6] |
TG12T6 |
VUS |
| Intron 9 |
c.1210-6T>A |
|
VUS |
| Intron 9 |
c.1210-12T[9] |
poly-T tract variations ; 1342-13G/T |
non disease-causing |
| Intron 9 |
c.1210-34TG[13] |
1342-11TTT>G |
non disease-causing |
| Exon 9 |
c.1202G>A |
W401X(TAG) |
disease-causing |
| Exon 9 |
c.1118A>G |
D373G |
VUS |
| Exon 9 |
c.1163C>T |
T388M |
VUS |
| Intron 9 |
c.1210-34_1210-6TG[10]T[9] |
TG10T9 |
non disease-causing |
| Intron 9 |
c.1210-34_1210-6TG[12]T[9] |
TG12T9 |
non disease-causing |
| Intron 9 |
c.1209+2T>G |
|
disease-causing |
| Intron 9 |
c.1210-34_1210-6TG[13]T[5] |
TG13T5 |
disease-causing |
| Intron 9 |
c.1210-34_1210-6TG[11]T[5] |
TG11T5 |
VUS |
| Intron 9 |
c.1210-34_1210-6TG[9]T[11] |
TG9T11 |
VUS |
| Intron 9 |
c.1210-12T[7] |
poly-T tract variations |
non disease-causing |
| Intron 9 |
c.1210-34TG[12] |
1342-12(GT)n |
non disease-causing |
| Exon 9 |
c.1175T>G |
V392G |
disease-causing |
| Exon 9 |
c.1209G>C |
E403D |
disease-causing |
| Exon 9 |
c.1139A>G |
Y380C |
VUS |
| Intron 9 |
c.1210-34_1210-6TG[12]T[7] |
TG12T7 |
non disease-causing |
| Intron 9 |
c.1209+1G>A |
1341+1G>A |
disease-causing |
| Intron 9 |
c.1210-34_1210-6TG[12]T[5] |
TG12T5 |
disease-causing |
| Intron 9 |
c.1210-34_1210-6TG[10]T[8] |
TG10T8 |
VUS |
| Intron 9 |
c.1210-34_1210-6TG[15]T[7] |
TG15T7 |
VUS |
| Intron 9 |
c.1210-34TG[11] |
1342-12(GT)n |
non disease-causing |
| Intron 9 |
c.1210-34_1210-6TG[10]T[7] |
TG10T7 |
non disease-causing |
| Exon 9 |
c.1162_1168del |
1294del7 |
disease-causing |
| Exon 9 |
c.1209G>A |
E403E (1341G/A) |
disease-causing |
| Exon 9 |
c.1135G>A |
E379K |
VUS |
| Intron 9 |
c.1210-34_1210-6TG[11]T[9] |
TG11T9 |
non disease-causing |
| Intron 9 |
c.1210-34_1210-6TG[9]T[9] |
TG9T9 |
non disease-causing |
| Intron 9 |
c.1210-34_1210-6TG[12]T[3] |
TG12T3 |
disease-causing |
| Intron 9 |
c.1209+28C>T |
|
VUS |
| Intron 9 |
c.1210-34_1210-6TG[13]T[6] |
TG13T6 |
VUS |
| Intron 9 |
c.1210-34TG[10] |
1342-12(GT)n |
non disease-causing |
| Intron 9 |
c.1210-34TG[9] |
|
non disease-causing |
| Exon 10 |
c.1270G>A |
G424S |
VUS |
| Exon 10 |
c.1390A>C |
K464Q |
likely pathogenic |
| Exon 10 |
c.1327G>T |
D443Y |
disease-causing |
| Exon 10 |
c.1364C>A |
A455E |
disease-causing |
| Intron 10 |
c.1393-1G>A |
1525-1G->A |
disease-causing |
| Exon 10 |
c.1392G>T |
K464N |
disease-causing |
| Exon 10 |
c.1364C>T |
A455V |
VUS |
| Exon 10 |
c.1248dup |
N417X |
disease-causing |
| Exon 10 |
c.1355A>C |
Q452P |
disease-causing |
| Intron 10 |
c.1392+1del |
|
disease-causing |
| Exon 10 |
c.1373G>T |
G458V |
disease-causing |
| Exon 10 |
c.1360_1368del |
1491_1500del |
VUS |
| Exon 10 |
c.1240C>T |
Q414X |
disease-causing |
| Exon 10 |
c.1331T>C |
I444T |
disease-causing |
| Intron 10 |
c.1393-61A>G |
1525-61A/G |
non disease-causing |
| Intron 10 |
c.1393-3C>A |
|
VUS |
| Exon 10 |
c.1315C>T |
P439S |
VUS |
| Exon 10 |
c.1235del |
1367delC |
disease-causing |
| Exon 10 |
c.1330_1331del |
1460delAT |
disease-causing |
| Exon 10 |
c.1367T>C |
V456A |
disease-causing |
| Intron 10 |
c.1392+52T[10] |
|
non disease-causing |
| Intron 10 |
c.1393-2A>G |
1525-2A>G |
disease-causing |
| Exon 11 |
c.1397C>G |
S466X(TGA) |
disease-causing |
| Exon 11 |
c.1466C>A |
S489X |
disease-causing |
| Exon 11 |
c.1477_1478del |
1609delCA |
disease-causing |
| Exon 11 |
c.1521_1523del |
ΔF508 |
disease-causing |
| Exon 11 |
c.1558G>T |
V520F |
disease-causing |
| Exon 11 |
c.1399C>T |
1531C/T (L467F) |
VUS |
| Exon 11 |
c.1453A>T |
S485C |
VUS |
| Exon 11 |
c.1518C>G |
1650C/G |
VUS |
| Exon 11 |
c.1580A>G |
E527G |
VUS |
| Exon 11 |
c.1495C>T |
P499S |
likely pathogenic |
| Intron 11 |
c.(1584+1_1585-1)_(1766+1_1767-1)del |
|
disease-causing |
| Intron 11 |
c.1585-8G>A |
1717-8G>A |
disease-causing |
| Intron 11 |
c.1584+64T>C |
|
VUS |
| Intron 11 |
c.1585-9395C>G |
|
VUS |
| Exon 11 |
c.1584G>A |
E528E (1716G/A) |
non disease-causing |
| Exon 11 |
c.1420G>A |
E474K |
disease-causing |
| Exon 11 |
c.1477C>T |
Q493X |
disease-causing |
| Exon 11 |
c.1519_1521del |
ΔI507 |
disease-causing |
| Exon 11 |
c.1545_1546del |
1677delTA |
disease-causing |
| Exon 11 |
c.1397C>T |
S466L |
VUS |
| Exon 11 |
c.1439G>A |
G480D |
VUS |
| Exon 11 |
c.1516A>C |
I506L |
VUS |
| Exon 11 |
c.1568C>A |
A523E |
VUS |
| Exon 11 |
c.1494G>C |
M498I |
likely pathogenic |
| Intron 11 |
c.1585-9218G>A |
|
non disease-causing |
| Intron 11 |
c.1585-1G>A |
1717-1G>A |
disease-causing |
| Intron 11 |
c.1584+12T>C |
1716+12T/C |
VUS |
| Intron 11 |
c.1585-9212G>A |
|
VUS |
| Intron 11 |
c.1585-3T>C |
|
likely benign |
| Exon 11 |
c.1516A>G |
I506V (1648A/G) |
non disease-causing |
| Exon 11 |
c.1418del |
1548delG |
disease-causing |
| Exon 11 |
c.1475C>T |
S492F |
disease-causing |
| Exon 11 |
c.1517T>C |
I506T |
disease-causing |
| Exon 11 |
c.1538A>G |
D513G |
disease-causing |
| Exon 11 |
c.1579_1584+11del |
1706del17 |
disease-causing |
| Exon 11 |
c.1438G>A |
G480S |
VUS |
| Exon 11 |
c.1499G>T |
G500V |
VUS |
| Exon 11 |
c.1558G>A |
V520I |
VUS |
| Exon 11 |
c.1583A>C |
E528A |
VUS |
| Intron 11 |
c.1584+2T>C |
1716+2T>C |
disease-causing |
| Intron 11 |
c.[1585-11881_2490+101dup;2490+87_2490+88insTCAAAATTTACTAAA] |
CFTRdup11_13 |
disease-causing |
| Intron 11 |
c.1585-84A>C |
|
VUS |
| Intron 11 |
c.1585-9449C>A |
|
VUS |
| Exon 11 |
c.1408A>G |
M470V |
non disease-causing |
| Exon 11 |
c.1405A>G |
M469V |
disease-causing |
| Exon 11 |
c.1471T>C |
C491R |
disease-causing |
| Exon 11 |
c.1501A>G |
T501A |
disease-causing |
| Exon 11 |
c.1523T>G |
F508C |
disease-causing |
| Exon 11 |
c.1573C>T |
Q525X |
disease-causing |
| Exon 11 |
c.1429C>T |
P477S |
VUS |
| Exon 11 |
c.1466C>T |
S489L |
VUS |
| Exon 11 |
c.1555A>G |
S519G |
VUS |
| Exon 11 |
c.1581A>G |
E527E (1713A/G) |
VUS |
| Exon 11 |
c.1562T>G |
I521S |
likely pathogenic |
| Intron 11 |
c.1584+1G>A |
1716+1G->A |
disease-causing |
| Intron 11 |
c.1585-9412A>G |
|
disease-causing |
| Intron 11 |
c.1584+77A>G |
1716+ 77A/G |
VUS |
| Intron 11 |
c.1585-9418T>C |
|
VUS |
| Exon 12 |
c.1647T>G |
S549R(T>G) |
disease-causing |
| Exon 12 |
c.1657C>T |
R553X |
disease-causing |
| Exon 12 |
c.1675G>A |
A559T |
disease-causing |
| Exon 12 |
c.1630G>A |
G544S |
VUS |
| Exon 12 |
c.1624G>T |
G542X |
disease-causing |
| Intron 12 |
c.1680-717A>G |
|
non disease-causing |
| Intron 12 |
c.1680-1G>A |
1812-1G>A |
disease-causing |
| Intron 12 |
c.1680-871_1680-870delATinsGA |
|
VUS |
| Exon 12 |
c.1646G>A |
S549N |
disease-causing |
| Exon 12 |
c.1654C>T |
Q552X |
disease-causing |
| Exon 12 |
c.1674del |
1806delA |
disease-causing |
| Exon 12 |
c.1603G>A |
E535K |
VUS |
| Exon 12 |
c.1655A>C |
Q552P |
likely pathogenic |
| Exon 12 |
c.1616_1617dup |
1749insTA |
disease-causing |
| Intron 12 |
c.1679+1G>C |
1811+1G>C |
disease-causing |
| Intron 12 |
c.1679+694_2490+281dup |
|
VUS |
| Exon 12 |
c.1652G>A |
G551D |
disease-causing |
| Exon 12 |
c.1673T>C |
L558S |
disease-causing |
| Exon 12 |
c.1601C>A |
A534E |
VUS |
| Exon 12 |
c.1631G>T |
G544V |
likely pathogenic |
| Exon 12 |
c.1666A>G |
I556V |
non disease-causing |
| Exon 12 |
c.1645A>C |
S549R(A>C) |
disease-causing |
| Intron 12 |
c.1680-99T>C |
1812- 99 T- >C |
VUS |
| Intron 12 |
c.1680-871A>G |
|
non disease-causing |
| Intron 12 |
c.1680-886A>G |
1811+1.6kbA>G |
disease-causing |
| Exon 12 |
c.1650del |
1782delA |
disease-causing |
| Exon 12 |
c.1670del |
1802delC |
disease-causing |
| Exon 12 |
c.1679G>A |
R560K |
disease-causing |
| Exon 12 |
c.1657C>G |
R553G |
VUS |
| Exon 12 |
c.1642_1643del |
1774delCT |
disease-causing |
| Intron 12 |
c.1680-981T>C |
|
VUS |
| Intron 12 |
c.1680-870T>A |
1811+1650T>A |
non disease-causing |
| Intron 12 |
c.1680-883A>G |
|
disease-causing |
| Exon 13 |
c.1727G>C |
G576A |
non disease-causing |
| Exon 13 |
c.1703del |
1833delT |
disease-causing |
| Exon 13 |
c.1707T>A |
Y569X |
disease-causing |
| Exon 13 |
c.1745C>T |
T582I |
disease-causing |
| Exon 13 |
c.1690A>G |
K564E |
VUS |
| Exon 13 |
c.1721C>G |
P574R |
VUS |
| Exon 13 |
c.1720C>T |
P574S |
likely pathogenic |
| Intron 13 |
c.1766+1G>A |
1898+1G>A |
disease-causing |
| Intron 13 |
c.1766+5G>A |
1898+5G>A |
disease-causing |
| Intron 13 |
c.1767-58G>C |
|
VUS |
| Intron 13 |
c.1766+152T>A |
1898+152T/A |
non disease-causing |
| Exon 13 |
c.1687T>A |
Y563N |
disease-causing |
| Exon 13 |
c.1705T>G |
Y569D |
disease-causing |
| Exon 13 |
c.1736A>G |
D579G |
disease-causing |
| Exon 13 |
c.1684G>C |
V562L |
VUS |
| Exon 13 |
c.1706A>G |
Y569C |
VUS |
| Exon 13 |
c.1762G>A |
E588K |
VUS |
| Intron 13 |
c.1766+3A>G |
1898+3A>G |
disease-causing |
| Intron 13 |
c.1767-12T>G |
|
VUS |
| Exon 13 |
c.1682C>A |
A561E |
disease-causing |
| Exon 13 |
c.1705T>C |
Y569H |
disease-causing |
| Exon 13 |
c.1724T>A |
F575Y |
disease-causing |
| Exon 13 |
c.1684G>A |
V562I |
VUS |
| Exon 13 |
c.1696G>A |
A566T |
VUS |
| Exon 13 |
c.1759T>A |
F587I |
VUS |
| Intron 13 |
c.1766+3A>C |
1898+3A>C |
disease-causing |
| Intron 13 |
c.1766+73T>G |
1898+73T>G |
VUS |
| Exon 13 |
c.1680A>C |
R560S |
disease-causing |
| Exon 13 |
c.1704G>T |
L568F |
disease-causing |
| Exon 13 |
c.1721C>A |
P574H |
disease-causing |
| Exon 13 |
c.1753G>T |
E585X |
disease-causing |
| Exon 13 |
c.1695T>G |
D565E |
VUS |
| Exon 13 |
c.1723T>G |
F575V |
VUS |
| Intron 13 |
c.1766+1G>C |
1898+1G>C |
disease-causing |
| Intron 13 |
c.1766+5G>T |
1898+5G>T |
disease-causing |
| Exon 14 |
c.2096A>G |
N699S |
VUS |
| Exon 14 |
c.1981del |
2113delA |
disease-causing |
| Exon 14 |
c.2245C>T |
L749L (2377C/T) |
VUS |
| Exon 14 |
c.2012del |
2143delT |
disease-causing |
| Exon 14 |
c.2335C>A |
Q779K |
VUS |
| Exon 14 |
c.2051_2052delinsG |
2183AA>G |
disease-causing |
| Exon 14 |
c.2476G>A |
E826K |
VUS |
| Exon 14 |
c.2089dup |
2221insA |
disease-causing |
| Exon 14 |
c.2175dup |
2307insA |
disease-causing |
| Exon 14 |
c.2241_2248del |
2372del8 |
disease-causing |
| Exon 14 |
c.2291del |
2423delG |
disease-causing |
| Exon 14 |
c.2353C>T |
R785X |
disease-causing |
| Exon 14 |
c.2443del |
|
disease-causing |
| Exon 14 |
c.2488A>T |
K830X |
disease-causing |
| Exon 14 |
c.1784T>C |
M595T |
VUS |
| Exon 14 |
c.1801A>T |
I601F |
disease-causing |
| Exon 14 |
c.1853T>A |
I618N |
VUS |
| Exon 14 |
c.1826A>G |
H609R |
disease-causing |
| Exon 14 |
c.1970G>A |
R657K |
VUS |
| Exon 14 |
c.1900C>T |
Q634X |
disease-causing |
| Exon 14 |
c.2428A>G |
R810G |
likely pathogenic |
| Exon 14 |
c.2074G>C |
E692Q |
VUS |
| Exon 14 |
c.1966G>T |
E656X |
disease-causing |
| Exon 14 |
c.2210C>T |
S737F |
VUS |
| Exon 14 |
c.2002C>T |
R668C |
disease-causing |
| Exon 14 |
c.2297G>A |
R766K |
VUS |
| Exon 14 |
c.2051_2052del |
2183delAA |
disease-causing |
| Exon 14 |
c.2417A>G |
D806G |
VUS |
| Exon 14 |
c.2065C>T |
Q689X |
disease-causing |
| Exon 14 |
c.2145_2146delinsGT |
K716X |
disease-causing |
| Exon 14 |
c.2233G>T |
G745X(Gly745X) |
disease-causing |
| Exon 14 |
c.2290C>T |
R764X |
disease-causing |
| Exon 14 |
c.2327C>G |
S776X |
disease-causing |
| Exon 14 |
c.2421A>G |
I807M ; 2553A/G |
disease-causing |
| Exon 14 |
c.2479G>T |
E827X |
disease-causing |
| Exon 14 |
c.1783A>G |
M595V |
VUS |
| Exon 14 |
c.1792_1798del |
1924del7 |
disease-causing |
| Exon 14 |
c.1826A>T |
H609L |
VUS |
| Exon 14 |
c.1820_1903del |
1949del84 |
disease-causing |
| Exon 14 |
c.1920T>C |
F640F (2052T/C) |
VUS |
| Exon 14 |
c.1882G>A |
G628R(G->A) |
disease-causing |
| Intron 14 |
c.2491-51T>C |
2623-51T>C |
VUS |
| Exon 14 |
c.1798A>G |
R600G |
likely pathogenic |
| Exon 14 |
c.1911del |
2043delG |
disease-causing |
| Exon 14 |
c.2168G>T |
G723V |
VUS |
| Exon 14 |
c.1990G>T |
E664X |
disease-causing |
| Exon 14 |
c.2295G>T |
R765S |
VUS |
| Exon 14 |
c.2045del |
|
disease-causing |
| Exon 14 |
c.2395C>A |
Q799K |
VUS |
| Exon 14 |
c.2052dup |
2184insA |
disease-causing |
| Exon 14 |
c.2128A>T |
K710X |
disease-causing |
| Exon 14 |
c.2215del |
2347delG |
disease-causing |
| Exon 14 |
c.2249_2256del |
2380_2387del |
disease-causing |
| Exon 14 |
c.2324_2325del |
2456delAC |
disease-causing |
| Exon 14 |
c.2374C>T |
R792X |
disease-causing |
| Exon 14 |
c.2464G>T |
E822X |
disease-causing |
| Exon 14 |
c.1781T>C |
L594P |
VUS |
| Exon 14 |
c.1792A>T |
K598X |
disease-causing |
| Exon 14 |
c.1800G>T |
R600S |
VUS |
| Exon 14 |
c.1811C>T |
T604I |
disease-causing |
| Exon 14 |
c.1897C>T |
L633F |
VUS |
| Exon 14 |
c.1865G>A |
G622D |
disease-causing |
| Exon 14 |
c.2057C>A |
S686Y |
VUS |
| Intron 14 |
c.2490+2T>C |
2622+2T>C |
VUS |
| Exon 14 |
c.2173G>A |
E725K |
likely benign |
| Exon 14 |
c.1904del |
|
disease-causing |
| Exon 14 |
c.2145A>C |
Q715H |
VUS |
| Exon 14 |
c.1986_1989del |
2118del4 ; 2116delCTAA |
disease-causing |
| Exon 14 |
c.2259C>T |
S753S (2391C/T) |
VUS |
| Exon 14 |
c.2017G>T |
G673X |
disease-causing |
| Exon 14 |
c.2378A>T |
K793I |
VUS |
| Exon 14 |
c.2052del |
2184delA |
disease-causing |
| Exon 14 |
c.2125C>T |
R709X |
disease-causing |
| Exon 14 |
c.2195T>G |
L732X |
disease-causing |
| Exon 14 |
c.2249C>T |
P750L |
disease-causing |
| Exon 14 |
c.2299C>T |
Q767X |
disease-causing |
| Exon 14 |
c.2373del |
|
disease-causing |
| Exon 14 |
c.2450del |
|
disease-causing |
| Exon 14 |
c.1769G>A |
C590Y |
VUS |
| Exon 14 |
c.2260G>A |
V754M |
non disease-causing |
| Exon 14 |
c.1792A>G |
K598E |
VUS |
| Exon 14 |
c.1802T>C |
I601T |
disease-causing |
| Exon 14 |
c.1853T>G |
I618S |
VUS |
| Exon 14 |
c.1841A>G |
D614G |
disease-causing |
| Exon 14 |
c.1990G>C |
E664Q |
VUS |
| Intron 14 |
c.2490+1G>A |
2622+1G>A |
disease-causing |
| Exon 14 |
c.2483A>G |
D828G |
VUS |
| Intron 15 |
c.2619+106T>A |
|
non disease-causing |
| Intron 15 |
c.2620-6T>C |
2752-6T->C |
non disease-causing |
| Exon 15 |
c.2496C>A |
C832X |
disease-causing |
| Intron 15 |
c.2619+20_2619+24del |
IVS14a+17del5 |
VUS |
| Exon 15 |
c.2537G>A |
W846X |
disease-causing |
| Exon 15 |
c.2589_2599del |
2721del11 |
disease-causing |
| Exon 15 |
c.2559T>C |
I853I (2691T/C) |
VUS |
| Exon 15 |
c.2597G>A |
C866Y |
VUS |
| Intron 15 |
c.2620-26A>G |
2752-26A>G |
non disease-causing |
| Exon 15 |
c.2491G>T |
E831X |
disease-causing |
| Intron 15 |
c.2620-674_3367+198del |
2752-674_3499+198del9855 |
disease-causing |
| Exon 15 |
c.2508del |
2640delT |
disease-causing |
| Exon 15 |
c.2583del |
2711delT |
disease-causing |
| Exon 15 |
c.2522C>G |
P841R |
VUS |
| Exon 15 |
c.2596T>C |
C866R |
VUS |
| Exon 15 |
c.2552G>T |
R851L |
likely pathogenic |
| Intron 15 |
c.2620-15C>G |
2752-15C/G |
non disease-causing |
| Exon 15 |
c.2562T>G |
T854T (2694T/G) |
non disease-causing |
| Intron 15 |
c.2619+1355_2908+243del |
|
disease-causing |
| Exon 15 |
c.2502dup |
2634insT |
disease-causing |
| Intron 15 |
c.2620-17G>T |
|
VUS |
| Exon 15 |
c.2551C>T |
R851X |
disease-causing |
| Exon 15 |
c.2502T>G |
F834L |
VUS |
| Exon 15 |
c.2563G>A |
V855I |
VUS |
| Exon 15 |
c.2604A>G |
V868V (2736G/A) |
VUS |
| Intron 15 |
c.2619+86_2619+87del |
|
non disease-causing |
| Exon 15 |
c.2506G>T |
D836Y |
non disease-causing |
| Intron 15 |
c.(2619+1_2620-1)_(3367+1_3368-1)del |
|
disease-causing |
| Exon 15 |
c.2502del |
2634delT |
disease-causing |
| Intron 15 |
c.2619+3A>G |
2751+3A>G |
VUS |
| Exon 15 |
c.2538G>A |
W846X (2670TGG>TGA) |
disease-causing |
| Exon 15 |
c.2601dup |
2732insA |
disease-causing |
| Exon 15 |
c.2562T>C |
T854T (2694T/C) |
VUS |
| Exon 15 |
c.2598C>G |
C866W |
VUS |
| Intron 16 |
c.2657+5G>A |
2789+5G>A |
disease-causing |
| Intron 16 |
c.2658-13A>G |
|
VUS |
| Exon 16 |
c.2637_2644del |
|
disease-causing |
| Intron 16 |
c.2657+2_2657+3insA |
2789+2insA |
disease-causing |
| Intron 16 |
c.2657+66C>T |
|
VUS |
| Intron 16 |
c.2658-77T>A |
|
VUS |
| Intron 16 |
c.2658-1G>T |
2790-1G>T |
disease-causing |
| Intron 16 |
c.2658-2A>G |
2790-2A>G |
VUS |
| Exon 16 |
c.2645G>A |
W882X |
disease-causing |
| Intron 16 |
c.2658-1G>C |
2790-1G>C |
disease-causing |
| Intron 16 |
c.2658-21G>A |
2790-21G/A |
VUS |
| Exon 16 |
c.2639_2640dup |
|
disease-causing |
| Exon 17 |
c.2805_2810delinsTCAGA |
|
disease-causing |
| Exon 17 |
c.2834C>T |
S945L |
disease-causing |
| Exon 17 |
c.2669A>G |
Q890R |
VUS |
| Exon 17 |
c.2735C>G |
S912W |
VUS |
| Exon 17 |
c.2758G>T |
V920L |
VUS |
| Exon 17 |
c.2851A>G |
K951E |
VUS |
| Exon 17 |
c.2846A>T |
H949L |
likely pathogenic |
| Intron 17 |
c.2909-71G>C |
3041-71G/C |
non disease-causing |
| Intron 17 |
c.2909-15T>G |
3041-15T>G |
disease-causing |
| Intron 17 |
c.2909-15T>C |
|
VUS |
| Exon 17 |
c.2898G>A |
T966T (3030G/A) |
non disease-causing |
| Exon 17 |
c.2723C>A |
T908N |
disease-causing |
| Exon 17 |
c.2743_2745delinsA |
|
disease-causing |
| Exon 17 |
c.2797A>G |
R933G |
disease-causing |
| Exon 17 |
c.2816A>G |
H939R |
disease-causing |
| Exon 17 |
c.2908G>C |
G970R |
disease-causing |
| Exon 17 |
c.2719A>G |
2851A/G |
VUS |
| Exon 17 |
c.2756A>G |
Y919C |
VUS |
| Exon 17 |
c.2846A>G |
H949R |
VUS |
| Exon 17 |
c.2758G>A |
V920M |
likely pathogenic |
| Intron 17 |
c.2908+1G>A |
|
disease-causing |
| Intron 17 |
c.2908+4C>A |
|
VUS |
| Exon 17 |
c.2735C>T |
S912L |
non disease-causing |
| Exon 17 |
c.2706C>G |
S902R |
disease-causing |
| Exon 17 |
c.2739T>A |
Y913X |
disease-causing |
| Exon 17 |
c.2780T>C |
L927P |
disease-causing |
| Exon 17 |
c.2813T>G |
V938G |
disease-causing |
| Exon 17 |
c.2875del |
3007delG |
disease-causing |
| Exon 17 |
c.2699A>C |
N900T |
VUS |
| Exon 17 |
c.2754T>G |
I918M |
VUS |
| Exon 17 |
c.2770G>C |
D924H |
VUS |
| Exon 17 |
c.2672A>G |
D891G |
likely pathogenic |
| Intron 17 |
c.2908+1086_3367+260del |
CFTR-dele16-17a-17b |
disease-causing |
| Intron 17 |
c.2908+19G>A |
|
VUS |
| Exon 17 |
c.2668C>T |
Q890X |
disease-causing |
| Exon 17 |
c.2737_2738insG |
2869insG |
disease-causing |
| Exon 17 |
c.2763_2764dup |
2896insAG |
disease-causing |
| Exon 17 |
c.2810dup |
2942insT |
disease-causing |
| Exon 17 |
c.2856G>C |
M952I |
disease-causing |
| Exon 17 |
c.2695A>G |
R899G |
VUS |
| Exon 17 |
c.2743G>C |
V915L |
VUS |
| Exon 17 |
c.2770G>A |
D924N |
VUS |
| Exon 17 |
c.2855T>C |
M952T |
VUS |
| Intron 17 |
c.2909-92G>A |
3041-92G/A |
non disease-causing |
| Intron 17 |
c.2909-636_3367+1194delins32 |
CFTRdele16-17b |
disease-causing |
| Intron 17 |
c.2909-36T>G |
|
VUS |
| Exon 17 |
c.2900T>C |
L967S |
non disease-causing |
| Exon 17 |
c.2735C>A |
S912X |
disease-causing |
| Intron 18 |
c.2989-449_3468+644del |
|
disease-causing |
| Intron 18 |
c.2989-35G>A |
|
VUS |
| Exon 18 |
c.2924_2925del |
3056delGA |
disease-causing |
| Exon 18 |
c.2977G>T |
D993Y |
disease-causing |
| Exon 18 |
c.2940A>G |
I980M |
VUS |
| Exon 18 |
c.2978A>G |
D993G |
VUS |
| Intron 18 |
c.(2988-1_2989-1)_(3367+1_3368-1)del |
Del exon 17a-17b |
disease-causing |
| Intron 18 |
c.2989-1698_3469-4461del |
|
disease-causing |
| Intron 18 |
c.2989-313A>T |
|
disease-causing |
| Intron 18 |
c.2989-357C>T |
|
VUS |
| Intron 18 |
c.2989-69C>G |
|
VUS |
| Exon 18 |
c.2919_2920ins121 |
|
disease-causing |
| Exon 18 |
c.2939T>A |
I980K |
disease-causing |
| Exon 18 |
c.2936A>C |
D979A |
VUS |
| Exon 18 |
c.2973A>G |
I991M |
VUS |
| Intron 18 |
c.(2988+1_2989-1)_(3468+1_3469-1)del |
Del exon 17a-17b-18 |
disease-causing |
| Exon 18 |
c.2953G>T |
D985Y |
likely pathogenic |
| Intron 18 |
c.2988+1G>A |
3120+1G>A |
disease-causing |
| Intron 18 |
c.2989-977_3367+248del |
3121-977_3499+248del2515 ; del 17a-17b |
disease-causing |
| Intron 18 |
c.2989-422G>T |
|
VUS |
| Exon 18 |
c.2909G>T |
G970V |
disease-causing |
| Exon 18 |
c.2936A>T |
D979V |
disease-causing |
| Exon 18 |
c.2916_2917delinsAT |
|
VUS |
| Exon 18 |
c.2957T>C |
L986P |
VUS |
| Intron 18 |
c.2989-93A[12] |
3121-92A12/13 |
non disease-causing |
| Exon 18 |
c.2953G>C |
D985H |
likely pathogenic |
| Intron 18 |
c.2988+1616_3367+356delins62 |
Del exon 17a-17b |
disease-causing |
| Intron 18 |
c.2989-2A>G |
3121-2A>G |
disease-causing |
| Intron 18 |
c.2989-908_3085delinsGACAG |
|
disease-causing |
| Intron 18 |
c.2989-3C>G |
3121-3C>G |
VUS |
| Exon 18 |
c.2909G>A |
G970D |
disease-causing |
| Exon 18 |
c.2930C>T |
S977F |
disease-causing |
| Exon 18 |
c.2988G>A |
Q996Q (3120G/A) |
disease-causing |
| Exon 18 |
c.2946T>G |
I982M |
VUS |
| Exon 18 |
c.2981T>G |
F994C |
VUS |
| Intron 18 |
c.2988+1173_3468+2111del |
Del exon 17a-17b-18 |
disease-causing |
| Intron 18 |
c.2989-1G>A |
3121-1G>A |
disease-causing |
| Exon 19 |
c.3095A>G |
Y1032C |
disease-causing |
| Exon 19 |
c.3041A>G |
Y1014C |
VUS |
| Intron 19 |
c.3139+18C>T |
3271+18C/T |
non disease-causing |
| Exon 19 |
c.3014T>G |
I1005R |
likely pathogenic |
| Intron 19 |
c.3140-26A>G |
3272-26A>G |
disease-causing |
| Intron 19 |
c.3139+89T>C |
|
VUS |
| Exon 19 |
c.2991G>C |
L997F |
disease-causing |
| Exon 19 |
c.3022del |
3154delG |
disease-causing |
| Exon 19 |
c.3068_3072del |
3200_3204delTAGTG |
disease-causing |
| Exon 19 |
c.3038C>T |
P1013L |
VUS |
| Exon 19 |
c.3080T>C |
I1027T |
likely benign |
| Intron 19 |
c.3139+1G>A |
3271+1G>A |
disease-causing |
| Intron 19 |
c.3139+187dup |
|
VUS |
| Exon 19 |
c.3017C>A |
A1006E |
disease-causing |
| Exon 19 |
c.3038C>A |
P1013H |
VUS |
| Exon 19 |
c.3138del |
|
VUS |
| Intron 19 |
c.3140-92T>C |
3272-93T/C |
non disease-causing |
| Intron 19 |
c.3139+16T>A |
|
VUS |
| Intron 19 |
c.3140-33A>G |
3272-33A/G |
VUS |
| Exon 19 |
c.3011del |
|
disease-causing |
| Exon 19 |
c.3067_3072del |
3199del6 ; 3195del6 |
disease-causing |
| Exon 19 |
c.3131A>G |
E1044G |
likely pathogenic |
| Exon 19 |
c.3124C>T |
Q1042X |
disease-causing |
| Exon 19 |
c.3083T>G |
M1028R |
VUS |
| Intron 19 |
c.3139+42A>T |
3271+42A/T |
non disease-causing |
| Exon 19 |
c.3059T>A |
V1020E |
likely pathogenic |
| Intron 19 |
c.3139+101C>G |
3271+101C/G |
VUS |
| Intron 19 |
c.3140-16T>A |
|
VUS |
| Exon 19 |
c.2997_3000del |
3129del4 ; 3126del4 |
disease-causing |
| Exon 19 |
c.3064_3117del |
3196del54 |
disease-causing |
| Exon 20 |
c.3257C>T |
T1086I |
VUS |
| Exon 20 |
c.3288G>A |
|
VUS |
| Exon 20 |
c.3340G>C |
V1114L |
VUS |
| Exon 20 |
c.3181G>C |
G1061R |
disease-causing |
| Exon 20 |
c.3194T>C |
L1065P |
disease-causing |
| Exon 20 |
c.3197G>T |
R1066L |
disease-causing |
| Exon 20 |
c.3211C>T |
Q1071X |
disease-causing |
| Exon 20 |
c.3263dup |
|
disease-causing |
| Exon 20 |
c.3292T>C |
W1098R |
disease-causing |
| Exon 20 |
c.3297C>A |
F1099L |
disease-causing |
| Exon 20 |
c.3310G>T |
E1104X |
disease-causing |
| Exon 20 |
c.3151A>G |
I1051V |
VUS |
| Exon 20 |
c.3222T>A |
F1074L |
VUS |
| Intron 20 |
c.3368-140A>C |
3500-140A/C |
non disease-causing |
| Exon 20 |
c.3285A>T |
T1095T (3417A/T) |
VUS |
| Exon 20 |
c.3322G>C |
V1108L |
VUS |
| Exon 20 |
c.3160C>G |
H1054D |
disease-causing |
| Exon 20 |
c.3191_3192insTTTTAAGCTTAAAAGG |
|
disease-causing |
| Exon 20 |
c.3197G>C |
R1066P |
disease-causing |
| Exon 20 |
c.3209G>A |
R1070Q |
disease-causing |
| Exon 20 |
c.3254A>G |
H1085R |
disease-causing |
| Exon 20 |
c.3276C>A |
Y1092X(C>A) |
disease-causing |
| Exon 20 |
c.3294G>C |
W1098C |
disease-causing |
| Exon 20 |
c.3304A>T |
R1102X |
disease-causing |
| Exon 20 |
c.3148C>G |
P1050A |
VUS |
| Exon 20 |
c.3199G>A |
A1067T |
VUS |
| Exon 20 |
c.3256A>G |
T1086A |
VUS |
| Intron 20 |
c.3367+37G>A |
3499+37G/A |
non disease-causing |
| Exon 20 |
c.3274T>C |
Y1092H |
VUS |
| Exon 20 |
c.3299A>C |
Q1100P |
VUS |
| Exon 20 |
c.3200C>T |
A1067V |
likely pathogenic |
| Exon 20 |
c.3154T>G |
F1052V |
disease-causing |
| Exon 20 |
c.3189G>A |
W1063X |
disease-causing |
| Exon 20 |
c.3197G>A |
R1066H |
disease-causing |
| Exon 20 |
c.3208C>T |
R1070W |
disease-causing |
| Exon 20 |
c.3230T>C |
L1077P |
disease-causing |
| Exon 20 |
c.3266G>A |
W1089X |
disease-causing |
| Exon 20 |
c.3294G>A |
W1098X(TGA) |
disease-causing |
| Exon 20 |
c.3302T>G |
M1101R |
disease-causing |
| Exon 20 |
c.3353C>T |
S1118F |
disease-causing |
| Exon 20 |
c.3180del |
3312delA |
VUS |
| Exon 20 |
c.3241G>C |
A1081P |
VUS |
| Exon 20 |
c.3262A>G |
N1088D |
VUS |
| Exon 20 |
c.3290G>A |
R1097H |
VUS |
| Exon 20 |
c.3170C>G |
T1057R |
likely pathogenic |
| Exon 20 |
c.3184_3188dup |
3320ins5 |
disease-causing |
| Exon 20 |
c.3196C>T |
R1066C |
disease-causing |
| Exon 20 |
c.3205G>A |
G1069R |
disease-causing |
| Exon 20 |
c.3229_3230del |
3359delCT |
disease-causing |
| Exon 20 |
c.3264del |
3396delC |
disease-causing |
| Exon 20 |
c.3293G>A |
W1098X(TAG) |
disease-causing |
| Exon 20 |
c.3302T>A |
M1101K |
disease-causing |
| Exon 20 |
c.3324del |
|
disease-causing |
| Exon 20 |
c.3160C>T |
H1054Y |
VUS |
| Exon 20 |
c.3233T>C |
F1078S |
VUS |
| Intron 20 |
c.3368-2dup |
|
likely pathogenic |
| Exon 21 |
c.3400_3401delinsGTA |
3532AC>GTA |
disease-causing |
| Exon 21 |
c.3461A>G |
D1154G |
disease-causing |
| Exon 21 |
c.3406G>A |
A1136T |
VUS |
| Exon 21 |
c.3454_3455del |
|
VUS |
| Intron 21 |
c.3468+2T>C |
3600+2T>C |
disease-causing |
| Intron 21 |
c.3468+5G>A |
3600+5G>A |
VUS |
| Intron 21 |
c.3469-17T>C |
3601-17T>C |
VUS |
| Exon 21 |
c.3382A>T |
R1128X |
disease-causing |
| Exon 21 |
c.3458T>A |
V1153E |
disease-causing |
| Exon 21 |
c.3382A>G |
R1128G |
VUS |
| Exon 21 |
c.3443A>G |
N1148S |
VUS |
| Exon 21 |
c.3380G>A |
G1127E |
likely pathogenic |
| Intron 21 |
c.(3468+1_3469-1)_(3717+1_3718-1)del |
|
disease-causing |
| Intron 21 |
c.3468+51C>A |
|
VUS |
| Intron 21 |
c.3469-1473A>G |
|
VUS |
| Exon 21 |
c.3454G>C |
D1152H |
disease-causing |
| Exon 21 |
c.3371_3373del |
E1123del |
VUS |
| Exon 21 |
c.3422G>A |
S1141N |
VUS |
| Exon 21 |
c.3461A>T |
D1154V |
VUS |
| Intron 21 |
c.3469-65C>A |
3601-65C/A |
non disease-causing |
| Intron 21 |
c.[3469-331_3469-295del;3469-189_3717+3822del] |
|
disease-causing |
| Intron 21 |
c.3469-1374A>C |
|
VUS |
| Exon 21 |
c.3415A>G |
I1139V |
disease-causing |
| Exon 21 |
c.3468G>A |
L1156L (3600G/A) |
disease-causing |
| Exon 21 |
c.3409A>G |
M1137V |
VUS |
| Exon 21 |
c.3460G>A |
D1154N |
VUS |
| Intron 21 |
c.3469-1304C>G |
|
disease-causing |
| Intron 21 |
c.3468+70T>C |
|
VUS |
| Intron 21 |
c.3469-20T>C |
3601-20T>C |
VUS |
| Exon 22 |
c.3681A>G |
L1227L (3813A/G) |
VUS |
| Exon 22 |
c.3705T>G |
S1235R |
non disease-causing |
| Exon 22 |
c.3485G>T |
3617G/T |
disease-causing |
| Exon 22 |
c.3587C>G |
S1196X |
disease-causing |
| Exon 22 |
c.3617C>A |
S1206X(C>A) |
disease-causing |
| Exon 22 |
c.3691del |
3821delT |
disease-causing |
| Exon 22 |
c.3471G>A |
M1157I |
VUS |
| Exon 22 |
c.3590A>T |
H1197L |
VUS |
| Intron 22 |
c.3717+4A>G |
3849+4A>G |
disease-causing |
| Intron 22 |
c.3717+53del |
|
VUS |
| Intron 22 |
c.3718-48A>G |
|
VUS |
| Exon 22 |
c.3644_3645delinsAT |
L1215H |
VUS |
| Exon 22 |
c.3484C>T |
R1162X |
disease-causing |
| Exon 22 |
c.3532_3535dup |
3667ins4 |
disease-causing |
| Exon 22 |
c.3611G>A |
W1204X(3743G>A) |
disease-causing |
| Exon 22 |
c.3659del |
3791delC |
disease-causing |
| Exon 22 |
c.3717G>A |
3849G>A |
disease-causing |
| Exon 22 |
c.3562T>C |
S1188P |
VUS |
| Intron 22 |
c.3717+40A>G |
3849+40A>G |
disease-causing |
| Intron 22 |
c.3717+45G>A |
3849+45G>A |
VUS |
| Intron 22 |
c.3718-24G>A |
|
VUS |
| Exon 22 |
c.3628A>G |
M1210V |
VUS |
| Exon 22 |
c.3476C>T |
S1159F |
disease-causing |
| Exon 22 |
c.3528del |
3659delC |
disease-causing |
| Exon 22 |
c.3605del |
3737delA |
disease-causing |
| Exon 22 |
c.3623del |
3755delG |
disease-causing |
| Exon 22 |
c.3712C>T |
Q1238X |
disease-causing |
| Exon 22 |
c.3503A>G |
D1168G |
VUS |
| Intron 22 |
c.3717+1G>A |
3849+ 1G- >A |
disease-causing |
| Intron 22 |
c.3718-2477C>T |
3849+10kbC>T |
disease-causing |
| Intron 22 |
c.3718-2487A>T |
|
VUS |
| Exon 22 |
c.3713A>G |
Q1238R |
VUS |
| Exon 22 |
c.3472C>T |
R1158X |
disease-causing |
| Exon 22 |
c.3492dup |
K1165X |
disease-causing |
| Exon 22 |
c.3598_3599delinsG |
|
disease-causing |
| Exon 22 |
c.3618_3619del |
3750delAG |
disease-causing |
| Exon 22 |
c.3700A>G |
I1234V |
disease-causing |
| Exon 22 |
c.3473G>T |
R1158L |
VUS |
| Exon 22 |
c.3598delinsTCT |
|
VUS |
| Intron 22 |
c.3718-1G>A |
3850-1G>A |
disease-causing |
| Intron 22 |
c.3717+68A>G |
|
VUS |
| Intron 22 |
c.3718-79T>C |
3850-79T/C |
VUS |
| Intron 23 |
c.3874-14C>G |
4006- 14C- >G |
VUS |
| Exon 23 |
c.3737C>T |
T1246I |
disease-causing |
| Exon 23 |
c.3752G>A |
S1251N |
disease-causing |
| Exon 23 |
c.3822G>A |
W1274X |
disease-causing |
| Exon 23 |
c.3872A>G |
Q1291R |
disease-causing |
| Exon 23 |
c.3854C>G |
A1285G |
VUS |
| Intron 23 |
c.3873+1G>A |
4005+1G>A |
disease-causing |
| Intron 23 |
c.3873+112A>C |
|
VUS |
| Intron 23 |
c.3874-71A>G |
|
VUS |
| Exon 23 |
c.3731G>A |
G1244E |
disease-causing |
| Exon 23 |
c.3747del |
3878delG |
disease-causing |
| Exon 23 |
c.3808G>A |
D1270N |
disease-causing |
| Exon 23 |
c.3857T>C |
F1286S |
disease-causing |
| Exon 23 |
c.3846G>T |
W1282C |
VUS |
| Intron 23 |
c.3874-200G>A |
4006-200G/A |
non disease-causing |
| Intron 23 |
c.3874-4522A>G |
|
disease-causing |
| Intron 23 |
c.3874-4A>G |
4006-4A>G |
VUS |
| Exon 23 |
c.3870A>G |
P1290P (4002A/G) |
non disease-causing |
| Exon 23 |
c.3746G>A |
G1249E |
disease-causing |
| Exon 23 |
c.3773dup |
3905insT |
disease-causing |
| Exon 23 |
c.3846G>A |
W1282X |
disease-causing |
| Exon 23 |
c.3824A>T |
D1275V |
VUS |
| Exon 23 |
c.3868C>A |
P1290T |
VUS |
| Intron 23 |
c.3874-105T>G |
|
non disease-causing |
| Intron 23 |
c.3874-1_3874delinsAG |
|
disease-causing |
| Intron 23 |
c.3874-19_3874-17del |
4006-19del3 |
VUS |
| Exon 23 |
c.3745G>A |
G1249R |
disease-causing |
| Exon 23 |
c.3767dup |
3898insC |
disease-causing |
| Exon 23 |
c.3838C>T |
Q1280X |
disease-causing |
| Exon 23 |
c.3754A>C |
T1252P |
VUS |
| Exon 23 |
c.3854C>T |
A1285V |
VUS |
| Intron 23 |
c.3874-1G>A |
|
disease-causing |
| Intron 24 |
c.3963+69A>G |
|
non disease-causing |
| Intron 24 |
c.3964-3C>G |
4096-3C>G |
disease-causing |
| Exon 24 |
c.3883del |
4015delA |
disease-causing |
| Exon 24 |
c.3908A>T |
N1303I |
disease-causing |
| Exon 24 |
c.3923A>C |
E1308A |
VUS |
| Exon 24 |
c.3953T>C |
V1318A |
VUS |
| Intron 24 |
c.3964-3890_*3143delinsTAACT |
Del exon 22-24 |
disease-causing |
| Exon 24 |
c.3897A>G |
T1299T (4029A/G) |
non disease-causing |
| Exon 24 |
c.3891dup |
4022insT |
disease-causing |
| Exon 24 |
c.3909_3914delinsTGT |
4041_4046del6insTGT |
VUS |
| Exon 24 |
c.3937C>A |
Q1313K |
VUS |
| Exon 24 |
c.3915T>A |
D1305E |
likely pathogenic |
| Intron 24 |
c.3963+2T>A |
4095+ 2T- >A |
disease-causing |
| Intron 24 |
c.3964-93T>G |
|
VUS |
| Exon 24 |
c.3889dup |
4016insT |
disease-causing |
| Exon 24 |
c.3937C>T |
Q1313X |
disease-causing |
| Exon 24 |
c.3935A>G |
D1312G |
VUS |
| Exon 24 |
c.3907A>C |
N1303H |
likely pathogenic |
| Intron 24 |
c.3964-283T>C |
4096-283T/C |
non disease-causing |
| Intron 24 |
c.3964-78_4242+577del |
CFTRdele22,23 ; Del exon 22-23 |
disease-causing |
| Exon 24 |
c.3883_3886del |
4010del4 |
disease-causing |
| Exon 24 |
c.3909C>G |
N1303K |
disease-causing |
| Exon 24 |
c.3927G>T |
Q1309H |
VUS |
| Exon 24 |
c.3896C>T |
T1299I |
likely pathogenic |
| Intron 25 |
c.4136+5G>A |
|
disease-causing |
| Exon 25 |
c.4015C>T |
L1339F |
VUS |
| Exon 25 |
c.4085G>A |
S1362N |
VUS |
| Exon 25 |
c.3971T>C |
L1324P |
likely pathogenic |
| Exon 25 |
c.4004T>C |
L1335P |
disease-causing |
| Exon 25 |
c.4056G>C |
Q1352H(G>C) |
disease-causing |
| Exon 25 |
c.4086dup |
4218insT |
disease-causing |
| Intron 25 |
c.4137-139G>A |
4269-139G/A |
non disease-causing |
| Exon 25 |
c.4064G>T |
C1355F |
VUS |
| Exon 25 |
c.4127T>C |
L1376S |
VUS |
| Exon 25 |
c.4054C>T |
Q1352X |
disease-causing |
| Exon 25 |
c.4071_4073delinsAA |
|
disease-causing |
| Exon 25 |
c.3983T>C |
I1328T |
VUS |
| Intron 25 |
c.4137-89A>G |
|
VUS |
| Exon 25 |
c.4061T>C |
M1354T |
VUS |
| Exon 25 |
c.4124A>G |
H1375R |
VUS |
| Exon 25 |
c.4051A>T |
K1351X |
disease-causing |
| Exon 25 |
c.4071del |
|
disease-causing |
| Exon 25 |
c.4129G>C |
D1377H |
disease-causing |
| Intron 25 |
c.4137-136A>G |
|
VUS |
| Exon 25 |
c.4053_4054delinsAG |
|
VUS |
| Exon 25 |
c.4091C>T |
A1364V |
VUS |
| Exon 25 |
c.4046G>A |
G1349D |
disease-causing |
| Exon 25 |
c.4056G>T |
Q1352H(G>T) |
disease-causing |
| Exon 25 |
c.4097T>C |
I1366T |
disease-causing |
| Intron 26 |
c.4242+1G>A |
4374+1G>A |
disease-causing |
| Intron 26 |
c.4243-2A>C |
|
VUS |
| Exon 26 |
c.4197_4198del |
4326delTC |
disease-causing |
| Exon 26 |
c.4139C>T |
T1380I |
VUS |
| Exon 26 |
c.4202A>G |
E1401G |
VUS |
| Intron 26 |
c.4242+13A>G |
4374+13A/G |
non disease-causing |
| Intron 26 |
c.4243-16A>G |
|
VUS |
| Exon 26 |
c.4168C>T |
Q1390X |
disease-causing |
| Exon 26 |
c.4234C>T |
Q1412X |
disease-causing |
| Exon 26 |
c.4188A>G |
T1396T (4320A/G) |
VUS |
| Exon 26 |
c.4225G>A |
E1409K |
likely pathogenic |
| Intron 26 |
c.4242+65G>A |
|
VUS |
| Exon 26 |
c.4147dup |
4279insA |
disease-causing |
| Exon 26 |
c.4231C>T |
Q1411X |
disease-causing |
| Exon 26 |
c.4186A>C |
T1396P |
VUS |
| Exon 26 |
c.4242_4242+1delinsTT |
4374_4374+1GG>TT |
VUS |
| Intron 26 |
c.4243-7del |
|
disease-causing |
| Intron 26 |
c.4243-32del |
|
VUS |
| Exon 26 |
c.4144C>T |
Q1382X |
disease-causing |
| Exon 26 |
c.4200_4201del |
4332delTG |
disease-causing |
| Exon 26 |
c.4147A>G |
I1383V |
VUS |
| Exon 26 |
c.4224G>A |
4356G/A |
VUS |
| Exon 27 |
c.4272C>T |
Y1424Y (4404C/T) |
non disease-causing |
| Exon 27 |
c.4300_4301dup |
4428insGA |
disease-causing |
| Exon 27 |
c.4264C>T |
R1422W |
VUS |
| Exon 27 |
c.4357C>T |
R1453W |
VUS |
| Exon 27 |
c.4297G>A |
E1433K |
likely pathogenic |
| Exon 27 |
c.4276T>C |
S1426P |
disease-causing |
| Exon 27 |
c.4426C>T |
Q1476X |
disease-causing |
| Exon 27 |
c.4333G>A |
D1445N |
VUS |
| Exon 27 |
c.4439T>C |
L1480P |
VUS |
| Exon 27 |
c.4251del |
4382delA |
disease-causing |
| Exon 27 |
c.4364C>G |
S1455X |
disease-causing |
| Exon 27 |
c.4277C>T |
S1426F |
VUS |
| Exon 27 |
c.4417G>T |
E1473X |
VUS |
| Exon 27 |
c.4389G>A |
Q1463Q (4521G/A) |
non disease-causing |
| Exon 27 |
c.4303dup |
|
disease-causing |
| Exon 27 |
c.4275T>A |
D1425E |
VUS |
| Exon 27 |
c.4374dup |
|
VUS |
| UTR 3 |
c.*133dup |
4700T8/9 |
non disease-causing |
| UTR 3 |
c.*133T>A |
|
VUS |
| UTR 3 |
c.*2G>C |
|
VUS |
| UTR 3 |
c.*47G>T |
|
VUS |
| UTR 3 |
c.4442A>G |
|
VUS |
| UTR 3 |
c.*1251C>T |
|
likely benign |
