rs121912288
|
0.925 |
0.120 |
X |
154773152 |
missense variant |
C/T
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.750 |
1.000 |
10 |
1999 |
2015 |
rs121912296
|
0.925 |
0.120 |
X |
154765474 |
missense variant |
A/G
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.710 |
1.000 |
1 |
2019 |
2019 |
rs199422243
|
1.000 |
0.120 |
X |
154765486 |
missense variant |
A/G
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.710 |
1.000 |
1 |
2019 |
2019 |
rs137854489
|
0.925 |
0.120 |
X |
154765466 |
inframe deletion |
CTT/-
|
delins
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
1.000 |
5 |
1998 |
2015 |
rs121912304
|
0.925 |
0.120 |
X |
154765505 |
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 |
1.000 |
4 |
1999 |
2014 |
rs121912289
|
0.925 |
0.120 |
X |
154774672 |
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 |
|
|
rs121912290
|
0.925 |
0.120 |
X |
154770792 |
missense variant |
C/G;T
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121912291
|
0.925 |
0.120 |
X |
154770808 |
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 |
|
|
rs121912292
|
0.925 |
0.120 |
X |
154765478 |
missense variant |
C/G
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|