rs132630273
|
0.925 |
0.120 |
X |
48684284 |
missense variant |
C/T
|
snv
|
|
|
THROMBOCYTOPENIA 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.810 |
1.000 |
6 |
1995 |
2017 |
rs132630274
|
0.882 |
0.120 |
X |
48688331 |
missense variant |
T/C
|
snv
|
|
|
Neutropenia, Severe Congenital, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.810 |
1.000 |
1 |
2001 |
2001 |
rs782290433
|
0.882 |
0.120 |
X |
48684373 |
missense variant |
G/A
|
snv
|
5.5E-06
|
|
THROMBOCYTOPENIA 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.800 |
1.000 |
17 |
1995 |
2017 |
rs132630268
|
0.882 |
0.120 |
X |
48684407 |
missense variant |
G/A;C;T
|
snv
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.710 |
1.000 |
19 |
1994 |
2013 |
rs782290433
|
0.882 |
0.120 |
X |
48684373 |
missense variant |
G/A
|
snv
|
5.5E-06
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
13 |
1995 |
2017 |
rs782290433
|
0.882 |
0.120 |
X |
48684373 |
missense variant |
G/A
|
snv
|
5.5E-06
|
|
Neutropenia, Severe Congenital, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
13 |
1995 |
2017 |
rs132630272
|
0.925 |
0.120 |
X |
48684394 |
missense variant |
T/C
|
snv
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
12 |
1995 |
2010 |
rs132630273
|
0.925 |
0.120 |
X |
48684284 |
missense variant |
C/T
|
snv
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
12 |
1995 |
2010 |
rs139857045
|
1.000 |
0.120 |
X |
48684416 |
missense variant |
G/A
|
snv
|
5.2E-05
|
1.1E-04
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
12 |
1995 |
2010 |
rs146220228
|
1.000 |
0.120 |
X |
48685764 |
missense variant |
G/A
|
snv
|
2.6E-03
|
2.2E-03
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
12 |
1995 |
2010 |
rs1557006239
|
0.882 |
0.120 |
X |
48683944 |
missense variant |
G/A
|
snv
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
10 |
1995 |
2017 |
rs1557006239
|
0.882 |
0.120 |
X |
48683944 |
missense variant |
G/A
|
snv
|
|
|
THROMBOCYTOPENIA 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
10 |
1995 |
2017 |
rs1557006239
|
0.882 |
0.120 |
X |
48683944 |
missense variant |
G/A
|
snv
|
|
|
Neutropenia, Severe Congenital, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
10 |
1995 |
2017 |
rs132630268
|
0.882 |
0.120 |
X |
48684407 |
missense variant |
G/A;C;T
|
snv
|
|
|
THROMBOCYTOPENIA 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
9 |
1997 |
2013 |
rs132630268
|
0.882 |
0.120 |
X |
48684407 |
missense variant |
G/A;C;T
|
snv
|
|
|
Neutropenia, Severe Congenital, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
9 |
1997 |
2013 |
rs1064793293
|
1.000 |
0.120 |
X |
48689434 |
missense variant |
G/A
|
snv
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
6 |
1999 |
2011 |
rs139265251
|
1.000 |
0.080 |
X |
48685786 |
missense variant |
G/A;C
|
snv
|
4.5E-04
|
7.2E-04
|
THROMBOCYTOPENIA 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
6 |
1999 |
2013 |
rs1557007123
|
0.882 |
0.120 |
X |
48688689 |
stop gained |
C/T
|
snv
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
6 |
1995 |
2015 |
rs1557007123
|
0.882 |
0.120 |
X |
48688689 |
stop gained |
C/T
|
snv
|
|
|
THROMBOCYTOPENIA 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
6 |
1995 |
2015 |
rs1557007123
|
0.882 |
0.120 |
X |
48688689 |
stop gained |
C/T
|
snv
|
|
|
Neutropenia, Severe Congenital, X-Linked
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
6 |
1995 |
2015 |
rs132630275
|
0.925 |
0.080 |
X |
48684323 |
missense variant |
C/A;G
|
snv
|
|
|
THROMBOCYTOPENIA 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
5 |
1995 |
2002 |
rs132630276
|
0.925 |
0.080 |
X |
48689423 |
missense variant |
T/A
|
snv
|
|
|
THROMBOCYTOPENIA 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
5 |
1995 |
2002 |
rs1557007312
|
1.000 |
0.120 |
X |
48688994 |
frameshift variant |
-/G
|
delins
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
5 |
1995 |
2014 |
rs1569493877
|
0.882 |
0.120 |
X |
48686957 |
splice donor variant |
T/A
|
snv
|
|
|
THROMBOCYTOPENIA 1 (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
2004 |
2015 |
rs1569493877
|
0.882 |
0.120 |
X |
48686957 |
splice donor variant |
T/A
|
snv
|
|
|
Wiskott-Aldrich Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
2 |
2004 |
2015 |