rs1057517845
|
0.882 |
0.120 |
X |
48688097 |
splice donor variant |
G/A
|
snv
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1057517845
|
0.882 |
0.120 |
X |
48688097 |
splice donor variant |
G/A
|
snv
|
|
|
THROMBOCYTOPENIA 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1057517845
|
0.882 |
0.120 |
X |
48688097 |
splice donor variant |
G/A
|
snv
|
|
|
Neutropenia, Severe Congenital, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1057520700
|
1.000 |
0.120 |
X |
48685634 |
splice donor variant |
G/A;C;T
|
snv
|
|
|
Melena
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
0.700 |
|
0 |
|
|
rs1057520700
|
1.000 |
0.120 |
X |
48685634 |
splice donor variant |
G/A;C;T
|
snv
|
|
|
Abdomen distended
|
Digestive System Diseases
|
0.700 |
|
0 |
|
|
rs1057520700
|
1.000 |
0.120 |
X |
48685634 |
splice donor variant |
G/A;C;T
|
snv
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs132630269
|
1.000 |
0.080 |
X |
48684317 |
missense variant |
C/T
|
snv
|
|
|
THROMBOCYTOPENIA 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs132630270
|
1.000 |
0.080 |
X |
48686928 |
missense variant |
C/G
|
snv
|
|
|
THROMBOCYTOPENIA 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs132630271
|
1.000 |
0.120 |
X |
48683953 |
stop gained |
C/A;T
|
snv
|
5.5E-06
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs132630272
|
0.925 |
0.120 |
X |
48684394 |
missense variant |
T/C
|
snv
|
|
|
WISKOTT-ALDRICH SYNDROME, ATTENUATED
|
|
0.700 |
|
0 |
|
|
rs132630275
|
0.925 |
0.080 |
X |
48684323 |
missense variant |
C/A;G
|
snv
|
|
|
Thrombocytopenia, X-Linked, Intermittent
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs132630276
|
0.925 |
0.080 |
X |
48689423 |
missense variant |
T/A
|
snv
|
|
|
Thrombocytopenia, X-Linked, Intermittent
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1557006354
|
0.882 |
0.120 |
X |
48684421 |
stop gained |
C/T
|
snv
|
|
|
THROMBOCYTOPENIA 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1557006354
|
0.882 |
0.120 |
X |
48684421 |
stop gained |
C/T
|
snv
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1557006354
|
0.882 |
0.120 |
X |
48684421 |
stop gained |
C/T
|
snv
|
|
|
Neutropenia, Severe Congenital, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1557006672
|
1.000 |
0.120 |
X |
48686128 |
stop gained |
C/T
|
snv
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1557007035
|
1.000 |
0.120 |
X |
48688373 |
frameshift variant |
C/-
|
delins
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1557007165
|
1.000 |
0.080 |
X |
48688782 |
frameshift variant |
C/-
|
delins
|
|
|
Neutropenia, Severe Congenital, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs193922414
|
1.000 |
0.120 |
X |
48685583 |
stop gained |
C/G;T
|
snv
|
6.1E-06
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs193922415
|
1.000 |
0.120 |
X |
48683890 |
stop gained |
C/T
|
snv
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs193922416
|
1.000 |
0.120 |
X |
48688077 |
frameshift variant |
-/C
|
delins
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs387906716
|
1.000 |
0.080 |
X |
48688336 |
missense variant |
T/C
|
snv
|
|
|
Neutropenia, Severe Congenital, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs387906717
|
0.827 |
0.120 |
X |
48688403 |
missense variant |
T/C
|
snv
|
|
|
Neutropenia, Severe Congenital, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs587776742
|
1.000 |
0.120 |
X |
48683854 |
start lost |
A/T
|
snv
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs587776743
|
1.000 |
0.120 |
X |
48685760 |
inframe insertion |
-/ACGAGG
|
delins
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|