rs1555572698
|
0.925 |
0.200 |
17 |
61683736 |
stop gained |
C/A
|
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 |
2 |
2010 |
2011 |
rs1555573327
|
0.925 |
0.200 |
17 |
61685949 |
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 |
1.000 |
4 |
2008 |
2011 |
rs1555573497
|
0.925 |
0.200 |
17 |
61686152 |
stop gained |
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 |
|
0 |
|
|
rs1555574803
|
0.925 |
0.200 |
17 |
61693488 |
stop gained |
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 |
|
0 |
|
|
rs1555590388
|
0.925 |
0.240 |
17 |
61743050 |
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 |
|
|
rs1555591385
|
0.925 |
0.200 |
17 |
61744483 |
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 |
|
|
rs1555602127
|
0.925 |
0.200 |
17 |
61780277 |
frameshift variant |
AT/-
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555603635
|
0.925 |
0.240 |
17 |
61784423 |
splice acceptor variant |
CTATAAGAAATTACC/-
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555603638
|
0.882 |
0.280 |
17 |
61784425 |
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 |
|
0 |
|
|
rs1555605902
|
0.925 |
0.200 |
17 |
61793656 |
stop gained |
C/A;G
|
snv
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555605955
|
0.925 |
0.240 |
17 |
61793710 |
stop gained |
C/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 |
|
|
rs1555607022
|
0.925 |
0.200 |
17 |
61799099 |
splice donor 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 |
rs1555607628
|
0.925 |
0.200 |
17 |
61801252 |
splice donor 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 |
rs1555607749
|
1.000 |
0.120 |
17 |
61801389 |
stop gained |
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 |
|
0 |
|
|
rs1555607792
|
0.925 |
0.240 |
17 |
61801458 |
frameshift variant |
AATA/-
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555609116
|
0.925 |
0.200 |
17 |
61808467 |
frameshift variant |
G/-
|
del
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555609162
|
1.000 |
0.120 |
17 |
61808509 |
frameshift variant |
G/-
|
del
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555609191
|
0.882 |
0.280 |
17 |
61808545 |
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 |
|
|
rs1555609254
|
1.000 |
0.120 |
17 |
61808607 |
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 |
rs1555609402
|
1.000 |
0.120 |
17 |
61808756 |
splice acceptor variant |
GGCTGTA/-
|
del
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555616143
|
0.882 |
0.280 |
17 |
61849155 |
frameshift variant |
TTCTT/-
|
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 |
rs1555617925
|
0.925 |
0.200 |
17 |
61857227 |
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 |
|
|
rs1555617934
|
1.000 |
0.120 |
17 |
61857232 |
splice acceptor variant |
C/A
|
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 |
rs1555618374
|
1.000 |
0.120 |
17 |
61859799 |
frameshift variant |
-/AA
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1555618396
|
1.000 |
0.120 |
17 |
61859822 |
coding sequence variant |
-/GAACAAAGTAAGGCTAAGCTTTTTCCACTTCCTGTGGGACTCTCCAACAAACAATGTTGCTTGCTGTTTAATCCTCTGAGAATCTATGAACA
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|