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 |
|
|
rs1562988883
|
0.882 |
0.120 |
7 |
128830784 |
frameshift variant |
C/TCT
|
delins
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1562995872
|
1.000 |
0.120 |
7 |
128843554 |
inframe deletion |
TCAAGTACACCG/-
|
delins
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1562998858
|
0.882 |
0.120 |
7 |
128847739 |
frameshift variant |
AAGG/-
|
delins
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1562999451
|
0.882 |
0.120 |
7 |
128848601 |
stop gained |
A/T
|
snv
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1563000044
|
0.882 |
0.120 |
7 |
128849348 |
stop gained |
C/T
|
snv
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1563001456
|
0.882 |
0.120 |
7 |
128851345 |
stop gained |
A/T
|
snv
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1563001548
|
0.882 |
0.120 |
7 |
128851454 |
coding sequence variant |
G/-
|
delins
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1563003153
|
0.882 |
0.120 |
7 |
128853799 |
frameshift variant |
C/-
|
delins
|
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs199976790
|
0.882 |
0.120 |
7 |
128840603 |
stop gained |
C/A;T
|
snv
|
6.0E-05
|
8.4E-05
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs755583250
|
0.882 |
0.120 |
7 |
128837503 |
stop gained |
C/T
|
snv
|
4.0E-06
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs763330423
|
0.882 |
0.120 |
7 |
128840159 |
splice donor variant |
AAGT/-
|
del
|
4.0E-06
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs766330686
|
0.882 |
0.120 |
7 |
128846136 |
stop gained |
C/G;T
|
snv
|
8.0E-06
|
|
Filaminopathy, autosomal dominant
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|