rs1114167361
|
0.827 |
0.160 |
7 |
128845022 |
missense variant |
C/T
|
snv
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2011 |
2015 |
rs1554401581
|
0.882 |
0.120 |
7 |
128855315 |
splice donor variant |
G/A
|
snv
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2016 |
2016 |
rs781135153
|
0.882 |
0.120 |
7 |
128845989 |
splice acceptor variant |
G/C
|
snv
|
1.2E-05
|
1.4E-05
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2014 |
2016 |
rs112903432
|
0.882 |
0.120 |
7 |
128842700 |
splice donor variant |
T/C;G
|
snv
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1446694237
|
0.882 |
0.120 |
7 |
128841511 |
stop gained |
G/A;T
|
snv
|
8.0E-06
|
7.0E-06
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1554399513
|
0.882 |
0.120 |
7 |
128846129 |
frameshift variant |
-/TACC
|
delins
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1554400021
|
0.882 |
0.120 |
7 |
128848693 |
frameshift variant |
G/-
|
delins
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1562991776
|
0.882 |
0.120 |
7 |
128837258 |
splice donor variant |
G/A
|
snv
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1563005607
|
0.882 |
0.120 |
7 |
128857337 |
splice donor variant |
G/A
|
snv
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs748416758
|
0.882 |
0.120 |
7 |
128854661 |
stop gained |
C/T
|
snv
|
4.1E-06
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs749889670
|
0.882 |
0.120 |
7 |
128844656 |
splice acceptor variant |
A/G
|
snv
|
4.1E-06
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs774945928
|
0.882 |
0.120 |
7 |
128849329 |
splice acceptor variant |
A/T
|
snv
|
4.0E-06
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1064795229
|
0.882 |
0.120 |
7 |
128844254 |
frameshift variant |
T/-
|
del
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121909518
|
0.882 |
0.120 |
7 |
128858475 |
stop gained |
G/A
|
snv
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1402879259
|
0.882 |
0.120 |
7 |
128848974 |
splice donor variant |
-/ACGTCACA
|
delins
|
4.1E-06
|
1.4E-05
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1420159591
|
0.882 |
0.120 |
7 |
128840055 |
stop gained |
C/T
|
snv
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554397197
|
0.882 |
0.120 |
7 |
128835417 |
stop gained |
G/A
|
snv
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554398092
|
0.882 |
0.120 |
7 |
128840127 |
frameshift variant |
GGGGAGC/-
|
delins
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554398674
|
0.882 |
0.120 |
7 |
128842782 |
splice acceptor variant |
TTCTCTGCAGGCGACGTGAGCATCGGC/-
|
delins
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554400242
|
0.882 |
0.120 |
7 |
128849540 |
frameshift variant |
G/-
|
delins
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554400700
|
0.882 |
0.120 |
7 |
128851482 |
frameshift variant |
-/A
|
delins
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554401756
|
0.882 |
0.120 |
7 |
128856560 |
stop gained |
C/T
|
snv
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554401780
|
0.882 |
0.120 |
7 |
128856637 |
frameshift variant |
T/-
|
del
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554401830
|
0.882 |
0.120 |
7 |
128856856 |
frameshift variant |
-/TGCT
|
ins
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554401837
|
0.882 |
0.120 |
7 |
128856895 |
frameshift variant |
TCCTGGGCTCGAG/-
|
delins
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|