rs104893739
|
|
1.000 |
0.200 |
3 |
138946137 |
stop gained
|
G/A
|
snv
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs104893741
|
|
0.925 |
0.200 |
3 |
138946068 |
stop gained
|
G/A
|
snv
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516139
|
|
1.000 |
0.200 |
3 |
138946708 |
stop gained
|
G/T
|
snv
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516140
|
|
1.000 |
0.200 |
3 |
138946680 |
frameshift variant
|
G/-
|
delins
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516141
|
|
1.000 |
0.200 |
3 |
138946552 |
stop gained
|
G/C
|
snv
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516142
|
|
1.000 |
0.200 |
3 |
138946550 |
stop gained
|
G/C;T
|
snv
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516144
|
|
1.000 |
0.200 |
3 |
138946536 |
missense variant
|
T/G
|
snv
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516145
|
|
1.000 |
0.200 |
3 |
138946528 |
missense variant
|
C/T
|
snv
|
|
7.0E-06
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516149
|
|
1.000 |
0.200 |
3 |
138946431 |
missense variant
|
A/G
|
snv
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516150
|
|
1.000 |
0.200 |
3 |
138946430 |
stop gained
|
C/T
|
snv
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516151
|
|
1.000 |
0.200 |
3 |
138946420 |
missense variant
|
G/C
|
snv
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516153
|
|
1.000 |
0.200 |
3 |
138946412 |
missense variant
|
T/C
|
snv
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516156
|
|
1.000 |
0.200 |
3 |
138946407 |
missense variant
|
G/A
|
snv
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516157
|
|
1.000 |
0.200 |
3 |
138946404 |
missense variant
|
T/C
|
snv
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516158
|
|
1.000 |
0.200 |
3 |
138946385 |
frameshift variant
|
A/-
|
del
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516159
|
|
0.827 |
0.240 |
3 |
138946383 |
missense variant
|
T/C
|
snv
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516161
|
|
1.000 |
0.200 |
3 |
138946146 |
frameshift variant
|
-/G
|
delins
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516163
|
|
1.000 |
0.200 |
3 |
138946141 |
stop gained
|
G/A;C
|
snv
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516164
|
|
1.000 |
0.200 |
3 |
138946111 |
stop gained
|
C/T
|
snv
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516165
|
|
1.000 |
0.200 |
3 |
138946105 |
frameshift variant
|
T/-
|
del
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516166
|
|
1.000 |
0.200 |
3 |
138946071 |
frameshift variant
|
-/ATAGGGCATGGGTGAGGGAGGC
|
delins
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516167
|
|
1.000 |
0.200 |
3 |
138946091 |
stop gained
|
G/T
|
snv
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516170
|
|
1.000 |
0.200 |
3 |
138946034 |
frameshift variant
|
GCAGCTGCTGCAGCCGCTGCGGCTGCCG/-
|
del
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516172
|
|
1.000 |
0.200 |
3 |
138946028 |
frameshift variant
|
GCAGCCGCAGCTGCTGCAGCCG/-
|
del
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|
rs1057516173
|
|
1.000 |
0.200 |
3 |
138946020 |
inframe insertion
|
GGCTGCAGCCGCAGCTGCTGCAGCCGC/-;GGCTGCAGCCGCAGCTGCTGCAGCCGCCGCGGCTGCAGCCGCAGCTGCTGCAGCCGC
|
delins
|
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
0.700 |
|
0 |
|
|