rs118204050
|
1.000 |
0.120 |
14 |
67802241 |
stop gained |
G/A
|
snv
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1186788102
|
1.000 |
0.120 |
14 |
67790775 |
splice acceptor variant |
T/C
|
snv
|
4.0E-06
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1224762841
|
1.000 |
0.120 |
14 |
67806544 |
splice donor variant |
C/A
|
snv
|
4.0E-06
|
7.0E-06
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1239043055
|
0.925 |
0.080 |
14 |
67729248 |
missense variant |
G/A;T
|
snv
|
8.1E-06;
4.0E-06
|
|
Retinitis Pigmentosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.700 |
|
0 |
|
|
rs137907310
|
1.000 |
0.120 |
14 |
67786113 |
splice donor variant |
C/A;T
|
snv
|
2.4E-05
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1470672632
|
1.000 |
0.120 |
14 |
67786235 |
splice acceptor variant |
T/C
|
snv
|
|
8.1E-06
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555393005
|
1.000 |
0.120 |
14 |
67751050 |
splice donor variant |
A/G
|
snv
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555393181
|
1.000 |
0.120 |
14 |
67752343 |
splice donor variant |
C/T
|
snv
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555393338
|
1.000 |
0.120 |
14 |
67753706 |
splice donor variant |
C/T
|
snv
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555393393
|
1.000 |
0.120 |
14 |
67754213 |
splice acceptor variant |
C/T
|
snv
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555394824
|
1.000 |
0.120 |
14 |
67766231 |
frameshift variant |
-/A
|
delins
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555395288
|
1.000 |
0.120 |
14 |
67769732 |
splice acceptor variant |
T/C
|
snv
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555395524
|
1.000 |
0.120 |
14 |
67772046 |
splice donor variant |
C/A
|
snv
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555395525
|
1.000 |
0.120 |
14 |
67772046 |
splice donor variant |
C/-
|
delins
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555395560
|
1.000 |
0.120 |
14 |
67772212 |
splice acceptor variant |
T/C
|
snv
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555396303
|
1.000 |
0.120 |
14 |
67777736 |
splice acceptor variant |
C/A
|
snv
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555397310
|
1.000 |
0.120 |
14 |
67784333 |
splice donor variant |
C/G
|
snv
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555397331
|
1.000 |
0.120 |
14 |
67784438 |
splice acceptor variant |
T/C
|
snv
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555397638
|
1.000 |
0.120 |
14 |
67786234 |
splice acceptor variant |
C/T
|
snv
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555398241
|
1.000 |
0.120 |
14 |
67790702 |
frameshift variant |
T/-
|
delins
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555398778
|
1.000 |
0.120 |
14 |
67794170 |
splice donor variant |
C/A
|
snv
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555399278
|
1.000 |
0.120 |
14 |
67798012 |
splice donor variant |
A/G
|
snv
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555399288
|
1.000 |
0.120 |
14 |
67798040 |
frameshift variant |
T/-
|
delins
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555399289
|
1.000 |
0.120 |
14 |
67798064 |
inframe deletion |
AAC/-
|
delins
|
|
|
Spastic paraplegia 15, autosomal recessive
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs200832994
|
0.925 |
0.160 |
14 |
67807692 |
stop gained |
G/A
|
snv
|
8.0E-06
|
2.1E-05
|
Spastic Paraplegia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|