rs1566366182
|
1.000 |
0.120 |
14 |
24240301 |
frameshift variant |
-/G
|
delins
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs199422311
|
1.000 |
0.120 |
14 |
24240633 |
missense variant |
G/A;C
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs199422313
|
1.000 |
0.120 |
14 |
24240632 |
missense variant |
G/T
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs199422314
|
1.000 |
0.120 |
14 |
24240630 |
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 |
|
|
rs199422315
|
1.000 |
0.120 |
14 |
24240630 |
frameshift variant |
-/G
|
delins
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs199422316
|
1.000 |
0.120 |
14 |
24240620 |
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 |
|
|
rs199422317
|
1.000 |
0.120 |
14 |
24240618 |
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 |
|
|
rs199422318
|
1.000 |
0.120 |
14 |
24240614 |
missense variant |
GG/CT
|
mnv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs199422319
|
1.000 |
0.120 |
14 |
24240609 |
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 |
|
|
rs199422320
|
1.000 |
0.120 |
14 |
24240588 |
frameshift variant |
G/-
|
delins
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs201677741
|
1.000 |
0.120 |
14 |
24240544 |
stop gained |
G/T
|
snv
|
2.1E-04
|
5.6E-05
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs756029660
|
1.000 |
0.120 |
14 |
24240470 |
frameshift variant |
C/-;CC
|
delins
|
8.0E-06
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121918544
|
0.827 |
0.200 |
14 |
24240635 |
missense variant |
C/T
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.020 |
1.000 |
2 |
2008 |
2015 |
rs121918543
|
0.882 |
0.200 |
14 |
24240642 |
stop gained |
T/A;C
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.710 |
1.000 |
1 |
2008 |
2008 |
rs121918545
|
0.925 |
0.120 |
14 |
24240636 |
missense variant |
G/A;T
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.710 |
1.000 |
1 |
2008 |
2008 |