rs121908745
|
0.925 |
0.160 |
7 |
117559587 |
inframe deletion |
ATC/-
|
delins
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs121908746
|
0.925 |
0.160 |
7 |
117592213 |
frameshift variant |
AA/-;A;AAA;AAAA
|
delins
|
|
7.7E-05
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
5 |
1993 |
2013 |
rs121908748
|
0.925 |
0.160 |
7 |
117590440 |
splice donor variant |
G/A;C;T
|
snv
|
3.2E-05;
4.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
3 |
1993 |
2014 |
rs121908749
|
0.925 |
0.160 |
7 |
117509092 |
stop gained |
C/T
|
snv
|
2.4E-05
|
7.0E-06
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
6 |
1994 |
2013 |
rs121908750
|
1.000 |
0.120 |
7 |
117509140 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.800 |
1.000 |
34 |
1990 |
2015 |
rs121908751
|
0.925 |
0.160 |
7 |
117530899 |
stop gained |
G/A;T
|
snv
|
4.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.820 |
1.000 |
41 |
1990 |
2015 |
rs121908752
|
0.851 |
0.160 |
7 |
117535285 |
missense variant |
T/G
|
snv
|
1.9E-04
|
1.3E-04
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.820 |
1.000 |
33 |
1990 |
2014 |
rs121908753
|
0.851 |
0.160 |
7 |
117540285 |
missense variant |
G/A
|
snv
|
2.4E-05
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.800 |
1.000 |
20 |
1990 |
2010 |
rs121908754
|
1.000 |
0.120 |
7 |
117559643 |
stop gained |
C/A
|
snv
|
4.0E-06
|
7.0E-06
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs121908755
|
0.882 |
0.200 |
7 |
117587800 |
missense variant |
G/A;T
|
snv
|
8.8E-05
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.830 |
0.978 |
46 |
1990 |
2016 |
rs121908757
|
0.925 |
0.160 |
7 |
117587799 |
missense variant |
A/C
|
snv
|
4.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.720 |
1.000 |
8 |
1991 |
2016 |
rs121908758
|
0.851 |
0.160 |
7 |
117590394 |
missense variant |
C/A
|
snv
|
8.0E-06
|
7.0E-06
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.830 |
1.000 |
43 |
1990 |
2015 |
rs121908759
|
0.827 |
0.160 |
7 |
117592032 |
missense variant |
G/A
|
snv
|
1.0E-04
|
3.8E-04
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.710 |
1.000 |
3 |
2008 |
2015 |
rs121908760
|
0.925 |
0.160 |
7 |
117592292 |
stop gained |
C/T
|
snv
|
1.6E-05
|
7.0E-06
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
3 |
1997 |
2013 |
rs121908761
|
0.851 |
0.160 |
7 |
117611717 |
stop gained |
C/A;G
|
snv
|
1.2E-05
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.710 |
1.000 |
4 |
1992 |
2013 |
rs121908763
|
1.000 |
0.120 |
7 |
117627640 |
stop gained |
C/G
|
snv
|
8.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs121908764
|
1.000 |
0.120 |
7 |
117627664 |
stop gained |
G/A
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
4 |
1994 |
2013 |
rs121908765
|
1.000 |
0.120 |
7 |
117627665 |
stop gained |
G/A;T
|
snv
|
1.2E-05
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs121908766
|
1.000 |
0.120 |
7 |
117627765 |
stop gained |
C/A;T
|
snv
|
8.1E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs121908767
|
0.925 |
0.160 |
7 |
117610593 |
inframe deletion |
ATAGTG/-
|
delins
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
18 |
1994 |
2016 |
rs121908768
|
0.925 |
0.160 |
7 |
117540157 |
inframe deletion |
TCT/-
|
delins
|
|
7.0E-05
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
14 |
1993 |
2016 |
rs121908769
|
0.925 |
0.160 |
7 |
117509128 |
frameshift variant |
TT/-
|
delins
|
|
1.5E-04
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
3 |
1996 |
2013 |
rs121908770
|
1.000 |
0.120 |
7 |
117531067 |
frameshift variant |
A/-
|
del
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs121908771
|
0.925 |
0.160 |
7 |
117534316 |
frameshift variant |
T/-;TT
|
delins
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs121908772
|
1.000 |
0.120 |
7 |
117536604 |
frameshift variant |
A/-
|
delins
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
2 |
2000 |
2011 |