rs1057517643
|
0.882 |
0.280 |
17 |
61744578 |
stop gained |
A/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 |
|
|
rs1057517648
|
0.882 |
0.280 |
17 |
61859795 |
splice donor 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 |
|
|
rs1060501739
|
0.925 |
0.200 |
17 |
61784403 |
stop gained |
G/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 |
|
|
rs1060501740
|
0.925 |
0.200 |
17 |
61857167 |
stop gained |
G/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 |
|
0 |
|
|
rs1060501757
|
0.925 |
0.200 |
17 |
61781006 |
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 |
|
0 |
|
|
rs1060501763
|
0.925 |
0.200 |
17 |
61859794 |
splice donor variant |
A/C
|
snv
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1060501765
|
0.925 |
0.200 |
17 |
61847214 |
stop gained |
T/A;C
|
snv
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1060501766
|
0.925 |
0.200 |
17 |
61686136 |
stop gained |
G/A;C
|
snv
|
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 |
|
0 |
|
|
rs1060501778
|
0.925 |
0.200 |
17 |
61847180 |
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 |
|
|
rs1060501779
|
0.925 |
0.200 |
17 |
61808753 |
splice acceptor variant |
G/-;GG
|
delins
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1064794890
|
1.000 |
0.120 |
17 |
61857194 |
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 |
|
|
rs1304655615
|
0.925 |
0.200 |
17 |
61799278 |
stop gained |
G/A
|
snv
|
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 |
|
0 |
|
|
rs1310861578
|
1.000 |
0.120 |
17 |
61744463 |
stop gained |
-/TAC
|
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 |
|
0 |
|
|
rs1339743866
|
0.925 |
0.200 |
17 |
61784303 |
frameshift variant |
-/T
|
delins
|
|
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 |
|
|
rs140233356
|
0.925 |
0.240 |
17 |
61685911 |
stop gained |
G/A;C
|
snv
|
4.0E-06;
2.8E-04
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1436085018
|
0.925 |
0.200 |
17 |
61801454 |
stop gained |
A/C
|
snv
|
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 |
|
0 |
|
|
rs1483527885
|
0.925 |
0.200 |
17 |
61715978 |
frameshift variant |
-/A
|
delins
|
|
1.4E-05
|
FANCONI ANEMIA, COMPLEMENTATION GROUP J
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|