rs1555618709
|
0.925 |
0.240 |
17 |
61861461 |
frameshift variant |
-/A
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1555618716
|
1.000 |
0.120 |
17 |
61861471 |
frameshift variant |
-/G
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555618727
|
0.925 |
0.240 |
17 |
61861500 |
stop gained |
T/A
|
snv
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1567731917
|
0.925 |
0.200 |
17 |
61686101 |
frameshift variant |
G/-
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1567756032
|
1.000 |
0.120 |
17 |
61716064 |
splice acceptor variant |
C/T
|
snv
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
3 |
2005 |
2011 |
rs1567781169
|
0.925 |
0.200 |
17 |
61744467 |
frameshift variant |
-/C
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1567781543
|
0.925 |
0.200 |
17 |
61744556 |
frameshift variant |
A/-
|
del
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1567812616
|
0.925 |
0.200 |
17 |
61780365 |
frameshift variant |
C/-
|
del
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1567813223
|
0.925 |
0.200 |
17 |
61780843 |
frameshift variant |
A/-
|
del
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1567816997
|
0.925 |
0.200 |
17 |
61784361 |
frameshift variant |
C/-
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1567831477
|
0.925 |
0.200 |
17 |
61801282 |
frameshift variant |
-/GT
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1567831649
|
0.925 |
0.200 |
17 |
61801306 |
frameshift variant |
CAGCATCTTGTATTAG/-
|
del
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1567838246
|
0.925 |
0.200 |
17 |
61808665 |
frameshift variant |
T/-
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1567868477
|
1.000 |
0.120 |
17 |
61849173 |
frameshift variant |
-/A
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1567874485
|
0.925 |
0.200 |
17 |
61857075 |
frameshift variant |
-/TGCC
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1567878148
|
0.925 |
0.200 |
17 |
61861484 |
frameshift variant |
-/A
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1567878234
|
0.925 |
0.200 |
17 |
61861510 |
frameshift variant |
A/-
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs368796923
|
0.882 |
0.280 |
17 |
61799200 |
stop gained |
G/A
|
snv
|
4.0E-06
|
7.0E-06
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs373104267
|
1.000 |
0.120 |
17 |
61859898 |
stop gained |
C/A;T
|
snv
|
4.0E-06
|
7.0E-06
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs574552037
|
1.000 |
0.120 |
17 |
61716043 |
stop gained |
G/A;C
|
snv
|
3.3E-04;
2.4E-05;
4.0E-06
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
3 |
2005 |
2015 |
rs575595017
|
0.882 |
0.280 |
17 |
61859808 |
stop gained |
G/A
|
snv
|
1.2E-05
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs587778134
|
0.851 |
0.320 |
17 |
61776459 |
frameshift variant |
AA/-;AAAA
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
6 |
2011 |
2016 |
rs587780224
|
0.925 |
0.240 |
17 |
61801266 |
frameshift variant |
TG/-
|
delins
|
4.0E-06
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs587780226
|
0.882 |
0.280 |
17 |
61799125 |
stop gained |
G/A;T
|
snv
|
1.2E-05
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
4 |
2016 |
2017 |
rs587780228
|
0.882 |
0.280 |
17 |
61793698 |
stop gained |
C/A;G
|
snv
|
4.0E-06
|
2.8E-05
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
2016 |
2016 |