rs111576740
|
0.925 |
0.120 |
5 |
1266537 |
splice acceptor variant |
T/C;G
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121918663
|
0.925 |
0.120 |
5 |
1272252 |
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 |
|
|
rs121918665
|
0.925 |
0.120 |
5 |
1264541 |
missense variant |
C/G
|
snv
|
4.0E-06
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1388515349
|
1.000 |
0.120 |
5 |
1278700 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1554041299
|
1.000 |
0.120 |
5 |
1282488 |
coding sequence variant |
C/R
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs199422289
|
1.000 |
0.120 |
5 |
1294893 |
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 |
|
|
rs199422290
|
1.000 |
0.120 |
5 |
1294878 |
frameshift variant |
G/-
|
del
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs199422291
|
1.000 |
0.120 |
5 |
1294456 |
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 |
|
|
rs199422293
|
1.000 |
0.120 |
5 |
1293430 |
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 |
|
|
rs199422294
|
0.827 |
0.160 |
5 |
1280216 |
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 |
|
|
rs199422295
|
0.882 |
0.120 |
5 |
1279376 |
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 |
|
|
rs199422296
|
1.000 |
0.120 |
5 |
1279392 |
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 |
|
|
rs199422298
|
1.000 |
0.120 |
5 |
1278780 |
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 |
|
|
rs199422299
|
0.925 |
0.120 |
5 |
1278765 |
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 |
|
|
rs199422300
|
0.925 |
0.120 |
5 |
1278687 |
frameshift variant |
A/-
|
del
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs199422302
|
1.000 |
0.120 |
5 |
1268565 |
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 |
|
|
rs199422303
|
1.000 |
0.120 |
5 |
1266490 |
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 |
|
|
rs199422307
|
1.000 |
0.120 |
5 |
1255401 |
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 |
|
|
rs199422308
|
1.000 |
0.120 |
5 |
1253546 |
3 prime UTR variant |
TCAGCCGGACACTCAGCCTTCAGCCGGACATGCAGGCCTCGGCCAAACACTCACTCAGGCCTCAGACTCCCAGCGGTGCGGGCCTGGGTGTGGGCCGCCCCTCCCTCCCTGGGACGTAGAGCCCGGCGTGACAGGGCTGCTGGTGTCTGCTCTCGGCCTGGCTGTGGGCGGGTGGCC/-
|
delins
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs199422309
|
0.925 |
0.120 |
5 |
1294770 |
splice donor 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 |
|
|
rs387907247
|
0.925 |
0.120 |
5 |
1294826 |
missense variant |
A/T
|
snv
|
|
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs199422301
|
0.882 |
0.120 |
5 |
1271156 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs745590324
|
1.000 |
0.120 |
5 |
1279363 |
missense variant |
G/A;C
|
snv
|
5.7E-06
|
7.0E-06
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs1060503011
|
1.000 |
0.120 |
5 |
1279410 |
missense variant |
G/A;C
|
snv
|
|
7.0E-06
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|
rs121918662
|
0.882 |
0.120 |
5 |
1279341 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
Dyskeratosis Congenita
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
0.700 |
|
0 |
|
|