|
rs1019535182
|
1.000 |
0.160 |
9 |
97684921 |
splice donor variant |
A/G
|
snv
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs104894134
|
1.000 |
0.160 |
9 |
97689575 |
stop gained |
A/G;T
|
snv
|
4.0E-06
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1057519018
|
1.000 |
0.160 |
9 |
97684947 |
frameshift variant |
CT/-
|
delins
|
4.0E-06
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1240801740
|
1.000 |
0.160 |
9 |
97687191 |
stop gained |
CA/-
|
delins
|
4.0E-06
|
7.0E-06
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1253496792
|
1.000 |
0.160 |
9 |
97697291 |
start lost |
A/G
|
snv
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1326841833
|
1.000 |
0.160 |
9 |
97687118 |
frameshift variant |
-/T
|
delins
|
4.0E-06
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1554699296
|
1.000 |
0.160 |
9 |
97675528 |
frameshift variant |
-/A
|
delins
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1554699334
|
1.000 |
0.160 |
9 |
97675584 |
stop gained |
A/T
|
snv
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1554701129
|
1.000 |
0.160 |
9 |
97684964 |
frameshift variant |
-/G
|
delins
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1554701139
|
1.000 |
0.160 |
9 |
97684994 |
frameshift variant |
CT/-
|
delins
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1554701144
|
1.000 |
0.160 |
9 |
97685023 |
frameshift variant |
AA/-
|
del
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1554701152
|
1.000 |
0.160 |
9 |
97685033 |
frameshift variant |
T/-
|
delins
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1554701478
|
1.000 |
0.160 |
9 |
97687094 |
splice donor variant |
A/T
|
snv
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1554701481
|
1.000 |
0.160 |
9 |
97687095 |
splice donor variant |
C/T
|
snv
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1554701488
|
1.000 |
0.160 |
9 |
97687103 |
frameshift variant |
T/-
|
delins
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1554701520
|
1.000 |
0.160 |
9 |
97687178 |
frameshift variant |
-/T
|
delins
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1554701563
|
1.000 |
0.160 |
9 |
97687260 |
frameshift variant |
C/-
|
del
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1554701931
|
1.000 |
0.160 |
9 |
97689533 |
splice donor variant |
C/T
|
snv
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1554702597
|
1.000 |
0.160 |
9 |
97693643 |
splice donor variant |
TTACCT/-
|
delins
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1554702608
|
1.000 |
0.160 |
9 |
97693697 |
stop gained |
C/A
|
snv
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1554702629
|
1.000 |
0.160 |
9 |
97693735 |
frameshift variant |
G/-
|
delins
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1554703119
|
1.000 |
0.160 |
9 |
97697120 |
splice donor variant |
C/A;T
|
snv
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1554703183
|
1.000 |
0.160 |
9 |
97697267 |
start lost |
AAAGCCCCGTCGGCCGCCGCCATCTCTGGC/-
|
delins
|
|
|
Xeroderma pigmentosum, group A
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
|
rs1564045331
|
0.716 |
0.320 |
9 |
97687208 |
inframe deletion |
ATTCTT/-
|
delins
|
|
|
Apraxias
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
|
rs1564045331
|
0.716 |
0.320 |
9 |
97687208 |
inframe deletion |
ATTCTT/-
|
delins
|
|
|
Diplopia
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|