rs1057516216
|
1.000 |
0.120 |
7 |
117592659 |
splice donor variant |
T/C
|
snv
|
|
7.0E-06
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs1057516232
|
1.000 |
0.120 |
7 |
117504255 |
stop gained |
G/A
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1057516236
|
1.000 |
0.120 |
7 |
117592596 |
frameshift variant |
G/-
|
del
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs1057516387
|
1.000 |
0.120 |
7 |
117540116 |
frameshift variant |
-/TC
|
delins
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs1057516415
|
1.000 |
0.120 |
7 |
117610522 |
frameshift variant |
T/-
|
delins
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs1057516457
|
0.925 |
0.160 |
7 |
117664711 |
frameshift variant |
CA/-
|
delins
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs1057516609
|
1.000 |
0.120 |
7 |
117627586 |
stop gained |
C/A
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs1057516619
|
1.000 |
0.120 |
7 |
117536669 |
stop gained |
A/T
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.710 |
< 0.001 |
1 |
2017 |
2017 |
rs1057516646
|
1.000 |
0.120 |
7 |
117536546 |
splice acceptor variant |
A/G
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs1057516970
|
1.000 |
0.120 |
7 |
117627548 |
frameshift variant |
G/-
|
del
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs1057517032
|
1.000 |
0.120 |
7 |
117603725 |
frameshift variant |
A/-
|
delins
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs1057517068
|
1.000 |
0.120 |
7 |
117594992 |
frameshift variant |
-/T
|
delins
|
|
7.0E-06
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
6 |
2000 |
2016 |
rs1057517276
|
1.000 |
0.120 |
7 |
117592649 |
frameshift variant |
-/A
|
delins
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs1057517342
|
1.000 |
0.120 |
7 |
117535406 |
splice donor variant |
-/TACA
|
delins
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs1057517404
|
1.000 |
0.120 |
7 |
117642569 |
frameshift variant |
-/AA
|
delins
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs1060503164
|
1.000 |
0.120 |
7 |
117603783 |
splice donor variant |
G/A
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
3 |
2003 |
2016 |
rs113857788
|
0.882 |
0.160 |
7 |
117664780 |
missense variant |
G/C;T
|
snv
|
1.0E-03;
6.0E-05
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
8 |
1996 |
2017 |
rs113993958
|
0.882 |
0.200 |
7 |
117530953 |
missense variant |
G/A;C;T
|
snv
|
2.0E-05;
4.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.800 |
1.000 |
35 |
1990 |
2015 |
rs113993959
|
0.677 |
0.280 |
7 |
117587778 |
stop gained |
G/A;T
|
snv
|
8.0E-06;
3.4E-04
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.800 |
1.000 |
17 |
1991 |
2018 |
rs113993960
|
0.827 |
0.160 |
7 |
117559591 |
inframe deletion |
CTT/-
|
delins
|
|
8.0E-03
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
12 |
1989 |
2014 |
rs115545701
|
0.925 |
0.160 |
7 |
117509089 |
missense variant |
C/T
|
snv
|
1.5E-03
|
4.3E-03
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.710 |
1.000 |
1 |
2010 |
2010 |
rs1177201180
|
1.000 |
0.120 |
7 |
117592160 |
missense variant |
A/T
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs11971167
|
0.882 |
0.160 |
7 |
117642528 |
missense variant |
G/A;T
|
snv
|
1.3E-03
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.730 |
0.941 |
17 |
2001 |
2017 |
rs1199914684
|
1.000 |
0.120 |
7 |
117536639 |
stop gained |
G/T
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs1204521684
|
1.000 |
0.120 |
7 |
117540180 |
missense variant |
T/A;C;G
|
snv
|
4.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|