rs397508136
|
1.000 |
0.120 |
7 |
117480082 |
start lost |
CGAGAGACCATGCAGAGGTCGCC/-
|
delins
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs397508328
|
1.000 |
0.120 |
7 |
117480095 |
start lost |
A/G
|
snv
|
2.0E-05
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
8 |
1993 |
2014 |
rs397508476
|
1.000 |
0.120 |
7 |
117480096 |
start lost |
T/A;C;G
|
snv
|
8.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
3 |
2005 |
2012 |
rs397508657
|
1.000 |
0.120 |
7 |
117480097 |
start lost |
G/A;T
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs1562876396
|
1.000 |
0.120 |
7 |
117480098 |
frameshift variant |
C/-
|
del
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs397508740
|
1.000 |
0.120 |
7 |
117480098 |
stop gained |
C/T
|
snv
|
4.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs397508173
|
1.000 |
0.120 |
7 |
117480105 |
stop gained |
C/A;T
|
snv
|
5.2E-05
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
2 |
1993 |
1997 |
rs193922501
|
0.925 |
0.160 |
7 |
117480108 |
missense variant |
C/T
|
snv
|
2.4E-05
|
2.8E-05
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
11 |
1997 |
2012 |
rs121909045
|
1.000 |
0.120 |
7 |
117480113 |
stop gained |
G/C;T
|
snv
|
4.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs397508635
|
0.925 |
0.160 |
7 |
117480132 |
missense variant |
C/A;T
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.810 |
1.000 |
34 |
1990 |
2015 |
rs1562876459
|
1.000 |
0.120 |
7 |
117480138 |
missense variant |
T/C
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs397508714
|
1.000 |
0.120 |
7 |
117480138 |
frameshift variant |
T/-;TT;TTT
|
delins
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs1317756653
|
1.000 |
0.120 |
7 |
117480145 |
frameshift variant |
C/-
|
del
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs397508746
|
1.000 |
0.120 |
7 |
117480148 |
splice donor variant |
G/T
|
snv
|
4.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
5 |
2005 |
2013 |
rs1562882675
|
1.000 |
0.120 |
7 |
117504251 |
splice region variant |
CTGGACCAGACCAATTTTGAGGAAAGGATACAGACAGCGCCTGGAATTGTCAGACATATACCAAATCCCTTCTGTTGATTCTGCTGACAATCTATCTGAAAAATTGGAAAG/-
|
delins
|
|
|
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 |
rs397508762
|
1.000 |
0.120 |
7 |
117504256 |
stop gained |
G/A;T
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs397508796
|
1.000 |
0.120 |
7 |
117504278 |
stop gained |
G/A;C;T
|
snv
|
4.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
1 |
1992 |
1992 |
rs397508815
|
1.000 |
0.120 |
7 |
117504287 |
stop gained |
C/T
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs149353983
|
1.000 |
0.120 |
7 |
117504291 |
missense variant |
G/A;T
|
snv
|
5.6E-05;
3.2E-05
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.710 |
1.000 |
15 |
1995 |
2015 |
rs397508141
|
1.000 |
0.120 |
7 |
117504297 |
inframe deletion |
TTGTCAGACATATACCAA/-
|
delins
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs193922498
|
1.000 |
0.120 |
7 |
117504313 |
stop gained |
C/G
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs397508168
|
1.000 |
0.120 |
7 |
117504314 |
stop gained |
C/T
|
snv
|
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
5 |
1992 |
2013 |
rs143456784
|
1.000 |
0.120 |
7 |
117504324 |
missense variant |
C/T
|
snv
|
1.2E-04
|
7.7E-05
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
14 |
2001 |
2015 |
rs1800074
|
1.000 |
0.120 |
7 |
117504330 |
missense variant |
A/G;T
|
snv
|
4.0E-06
|
|
Cystic Fibrosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
0.700 |
1.000 |
14 |
2001 |
2015 |