rs1556404575
|
1.000 |
0.120 |
X |
123886049 |
frameshift variant |
ACAG/-
|
delins
|
|
|
Lymphoproliferative Syndrome, X-Linked, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
2011 |
2013 |
rs1556404684
|
1.000 |
0.120 |
X |
123886326 |
stop gained |
C/T
|
snv
|
|
|
Lymphoproliferative Syndrome, X-Linked, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
2011 |
2014 |
rs1569477871
|
1.000 |
0.120 |
X |
123886228 |
missense variant |
T/C
|
snv
|
|
|
Lymphoproliferative Syndrome, X-Linked, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs104894764
|
1.000 |
0.120 |
X |
123886014 |
stop gained |
G/T
|
snv
|
|
|
Lymphoproliferative Syndrome, X-Linked, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs111978474
|
1.000 |
0.120 |
X |
123886374 |
stop gained |
C/T
|
snv
|
|
|
Lymphoproliferative Syndrome, X-Linked, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1556404455
|
1.000 |
0.120 |
X |
123885767 |
frameshift variant |
T/-
|
delins
|
|
|
Lymphoproliferative Syndrome, X-Linked, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1556404534
|
1.000 |
0.120 |
X |
123885954 |
frameshift variant |
C/-
|
del
|
|
|
Lymphoproliferative Syndrome, X-Linked, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1556404673
|
1.000 |
0.120 |
X |
123886312 |
frameshift variant |
G/-
|
delins
|
|
|
Lymphoproliferative Syndrome, X-Linked, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1556404697
|
1.000 |
0.120 |
X |
123886331 |
frameshift variant |
-/T
|
delins
|
|
|
Lymphoproliferative Syndrome, X-Linked, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1556406033
|
1.000 |
0.120 |
X |
123891281 |
frameshift variant |
AA/-
|
del
|
|
|
Lymphoproliferative Syndrome, X-Linked, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1556408009
|
0.925 |
0.200 |
X |
123900534 |
stop gained |
C/T
|
snv
|
|
|
Lymphoproliferative Syndrome, X-Linked, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs199683465
|
1.000 |
0.120 |
X |
123891305 |
splice donor variant |
GAG/-
|
delins
|
2.5E-04
|
1.3E-04
|
Lymphoproliferative Syndrome, X-Linked, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs387907301
|
1.000 |
0.120 |
X |
123886270 |
missense variant |
G/A
|
snv
|
5.5E-06
|
|
Lymphoproliferative Syndrome, X-Linked, 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|