rs587782350
|
0.776 |
0.160 |
10 |
87957955 |
missense variant |
C/T
|
snv
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
8 |
1999 |
2017 |
rs121909232
|
0.776 |
0.160 |
10 |
87952258 |
stop gained |
C/A;G
|
snv
|
4.0E-06
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
5 |
1975 |
2014 |
rs1085308041
|
0.763 |
0.160 |
10 |
87965285 |
splice acceptor variant |
A/C;G
|
snv
|
|
|
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 |
rs1114167622
|
0.790 |
0.160 |
10 |
87952260 |
splice donor variant |
G/C
|
snv
|
|
|
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 |
rs138336847
|
0.790 |
0.160 |
10 |
87952264 |
splice region variant |
G/A;C
|
snv
|
4.0E-06
|
|
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 |
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 |
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 |
rs1554900675
|
0.790 |
0.160 |
10 |
87952263 |
splice region variant |
A/T
|
snv
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs587781784
|
0.790 |
0.160 |
10 |
87952116 |
splice acceptor variant |
A/C;G;T
|
snv
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs587782455
|
0.790 |
0.160 |
10 |
87960892 |
splice acceptor variant |
A/G;T
|
snv
|
5.1E-05
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs727504114
|
0.790 |
0.160 |
10 |
87952261 |
splice donor variant |
T/C;G
|
snv
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs786201041
|
0.776 |
0.160 |
10 |
87961119 |
splice donor 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 |
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 |
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 |
|
|
rs1114167640
|
0.790 |
0.160 |
10 |
87961067 |
stop gained |
TGACAAAGCAAATA/CGCTT
|
delins
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs121909221
|
0.790 |
0.160 |
10 |
87952135 |
missense variant |
T/A
|
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 |
|
|
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 |
|
|
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 |
|
|
rs121909228
|
0.790 |
0.160 |
10 |
87957984 |
stop gained |
G/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 |
|
|
rs1554825165
|
0.790 |
0.160 |
10 |
87957872 |
stop gained |
C/A
|
snv
|
|
|
Proteus-Like Syndrome (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|