rs121912293
|
0.925 |
0.120 |
X |
154765465 |
missense variant |
T/G
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121912295
|
0.925 |
0.120 |
X |
154774651 |
missense variant |
G/A
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121912297
|
0.925 |
0.120 |
X |
154765931 |
missense variant |
A/G
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121912298
|
0.925 |
0.120 |
X |
154773144 |
missense variant |
G/A
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121912299
|
0.925 |
0.120 |
X |
154774650 |
missense variant |
G/A
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121912300
|
0.925 |
0.120 |
X |
154773143 |
missense variant |
T/C
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121912301
|
0.925 |
0.120 |
X |
154765929 |
missense variant |
G/C
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121912302
|
0.925 |
0.120 |
X |
154765480 |
missense variant |
G/A
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121912303
|
0.925 |
0.120 |
X |
154762970 |
missense variant |
C/T
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121912305
|
0.925 |
0.120 |
X |
154766313 |
missense variant |
A/G
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs137854489
|
0.925 |
0.120 |
X |
154765466 |
inframe deletion |
CTT/-
|
delins
|
|
|
X-Linked Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs137854491
|
0.925 |
0.120 |
X |
154765450 |
missense variant |
C/A;G
|
snv
|
|
|
X-Linked Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs137854491
|
0.925 |
0.120 |
X |
154765450 |
missense variant |
C/A;G
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs137854492
|
1.000 |
0.120 |
X |
154773163 |
missense variant |
A/G
|
snv
|
|
|
X-Linked Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1557265435
|
1.000 |
0.120 |
X |
154774701 |
missense variant |
T/A
|
snv
|
|
|
X-Linked Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1569558474
|
1.000 |
0.120 |
X |
154765508 |
missense variant |
C/A
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1569558616
|
1.000 |
0.120 |
X |
154774706 |
splice donor variant |
G/A
|
snv
|
|
|
X-Linked Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs199422241
|
0.925 |
0.120 |
X |
154762824 |
5 prime UTR variant |
C/G
|
snv
|
|
2.3E-03
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs199422242
|
1.000 |
0.120 |
X |
154764911 |
missense variant |
C/T
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs199422244
|
1.000 |
0.120 |
X |
154765935 |
missense variant |
C/T
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs199422245
|
1.000 |
0.120 |
X |
154765939 |
missense variant |
C/A
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs199422247
|
1.000 |
0.120 |
X |
154769306 |
missense variant |
G/A
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs199422248
|
0.925 |
0.120 |
X |
154770784 |
missense variant |
A/G
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs199422249
|
1.000 |
0.120 |
X |
154773169 |
missense variant |
G/A
|
snv
|
5.5E-06
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs199422250
|
1.000 |
0.120 |
X |
154773244 |
missense variant |
C/T
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|