rs587776671
|
0.790 |
0.160 |
10 |
87864506 |
frameshift variant |
AA/-;AAA
|
delins
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs121909225
|
0.790 |
0.160 |
10 |
87894049 |
missense variant |
T/C;G
|
snv
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1085308043
|
0.763 |
0.200 |
10 |
87925511 |
splice acceptor variant |
A/G;T
|
snv
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs786203847
|
0.790 |
0.160 |
10 |
87925512 |
splice acceptor variant |
G/A;C
|
snv
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs398123317
|
0.790 |
0.160 |
10 |
87925550 |
missense variant |
T/A;C;G
|
snv
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs121909226
|
0.790 |
0.160 |
10 |
87925557 |
missense variant |
T/C
|
snv
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs398123318
|
0.776 |
0.240 |
10 |
87925558 |
splice region variant |
AGTA/-
|
delins
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1114167650
|
0.790 |
0.160 |
10 |
87925562 |
splice region variant |
G/A
|
snv
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1554897854
|
0.790 |
0.160 |
10 |
87931042 |
splice acceptor variant |
AGTT/-
|
delins
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1114167621
|
0.790 |
0.160 |
10 |
87931045 |
splice acceptor variant |
G/A;C;T
|
snv
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs587776667
|
0.742 |
0.280 |
10 |
87931090 |
splice donor variant |
G/A;C;T
|
snv
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1224040268
|
0.742 |
0.360 |
10 |
87931091 |
splice donor variant |
T/A;C
|
snv
|
|
7.0E-06
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1554897889
|
0.790 |
0.160 |
10 |
87931094 |
splice region variant |
G/A;T
|
snv
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1554898083
|
0.790 |
0.160 |
10 |
87933057 |
frameshift variant |
-/T
|
delins
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1554898085
|
0.790 |
0.160 |
10 |
87933061 |
frameshift variant |
-/AAACC
|
delins
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs587776666
|
0.790 |
0.160 |
10 |
87933106 |
frameshift variant |
ACAAT/-
|
del
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs121909222
|
0.742 |
0.240 |
10 |
87933127 |
missense variant |
A/G
|
snv
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs121909223
|
0.790 |
0.160 |
10 |
87933129 |
missense variant |
T/C;G
|
snv
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs121909218
|
0.672 |
0.360 |
10 |
87933145 |
missense variant |
G/A
|
snv
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs121909224
|
0.627 |
0.560 |
10 |
87933147 |
stop gained |
C/G;T
|
snv
|
1.2E-05
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
4 |
1997 |
2013 |
rs121909229
|
0.683 |
0.400 |
10 |
87933148 |
missense variant |
G/A;C;T
|
snv
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs121909241
|
0.790 |
0.160 |
10 |
87933154 |
missense variant |
G/A;T
|
snv
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs370795352
|
0.742 |
0.360 |
10 |
87933163 |
missense variant |
T/A;C
|
snv
|
4.0E-06
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1060500126
|
0.790 |
0.160 |
10 |
87933223 |
missense variant |
A/C;G
|
snv
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs1554898242
|
0.790 |
0.160 |
10 |
87933252 |
splice donor variant |
G/T
|
snv
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |