rs1085307090
|
0.882 |
0.240 |
8 |
144515325 |
splice donor variant |
C/A
|
snv
|
|
|
Rothmund-Thomson syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2000 |
2003 |
rs1564804479
|
1.000 |
0.120 |
8 |
144515873 |
stop gained |
C/T
|
snv
|
|
|
Rothmund-Thomson syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs1554896308
|
1.000 |
0.120 |
8 |
144512010 |
frameshift variant |
-/TGCTGCGCTCCTCATCCTGC
|
ins
|
|
|
Rothmund-Thomson syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1554898257
|
1.000 |
0.120 |
8 |
144513324 |
frameshift variant |
ACAGCCCGCACATCTGGCCGGT/-
|
del
|
|
|
Rothmund-Thomson syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs386833849
|
0.925 |
0.240 |
8 |
144513713 |
splice acceptor variant |
C/A;G;T
|
snv
|
|
|
Rothmund-Thomson syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs760363252
|
0.925 |
0.160 |
8 |
144514441 |
splice donor variant |
C/T
|
snv
|
4.1E-06
|
|
Rothmund-Thomson syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs786200887
|
1.000 |
0.120 |
8 |
144514490 |
frameshift variant |
AGGCCGC/-
|
delins
|
|
|
Rothmund-Thomson syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs786200890
|
1.000 |
0.120 |
8 |
144514062 |
inframe deletion |
CTGTGA/-
|
del
|
|
|
Rothmund-Thomson syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs752729755
|
0.925 |
0.160 |
8 |
144513109 |
frameshift variant |
AT/-
|
del
|
|
2.8E-05
|
Rothmund-Thomson syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs117642173
|
0.925 |
0.160 |
8 |
144515243 |
splice acceptor variant |
C/T
|
snv
|
3.6E-05
|
4.9E-05
|
Rothmund-Thomson syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs137853229
|
0.851 |
0.240 |
8 |
144513412 |
stop gained |
G/A
|
snv
|
1.2E-04
|
8.4E-05
|
Rothmund-Thomson syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs386833845
|
0.827 |
0.240 |
8 |
144514983 |
frameshift variant |
A/-
|
del
|
2.4E-04
|
3.3E-04
|
Rothmund-Thomson syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|