1
|
CRYAA, p.Val161Met 0 0.965
|
B
|
Nuclear
|
3
|
EPHA2, p.Lys935* 0.56 N/A
|
B
|
Total
|
|
CRYGA, Splice site N/A N/A acceptor
|
|
|
4
|
WDR36, Splice site N/A N/A donor
|
U
|
Posterior polar
|
5
|
CRYBA2, p.Phe63Ser, 0 1.000
|
B
|
Posterior polar
|
10
|
CRYBB3, p.Gly156Arg 0 1
|
B
|
Nuclear
|
24
|
FBN1, p.Asn497Lys 0.04 0.856
|
U
|
Nuclear
|
31
|
PAX6, p.Glu123* N/A N/A
|
B
|
Total
|
|
FOXE3, p.Pro149Ser 0 0.999
|
32
|
NHS, p.Arg248* (X-link) N/A N/A
|
B
|
Cortical
|
|
EPHA2, p.Glu934Lys 0.01 0.985
|
35
|
MYOC, p.Leu215Pro 0 1.000
|
B
|
Nuclear
|
37
|
CRYGC, p.Glu94Lys 0 0.999
|
U
|
Total
|
50
|
BFSP1, p.Glu468Lys 0.02 0.531
|
B
|
Nucelar
|
51
|
CRYBB3, p.Gly156Arg 0 1.000
|
B
|
Nuclear
|
|
BFSP2, p.Gly68Asp 0.01 0.981
|
56
|
WDR36, p.Arg703Gln N/A 0.987
|
B
|
Nuclear
|
57
|
CRYGC, p.Gln113* 0.2 N/A
|
B
|
Nuclear
|
|
HSF4, p.Pro60His 0 1.000
|
59
|
NHS, p.Arg565*,(X-link) N/A N/A (Hom)
|
B
|
Nuclear
|
60
|
CRYBB3, p.Gly76Arg 0 1.000
|
U
|
Cortical
|
62
|
TDRD7, p.Gln28Pro 0 0.999
|
B
|
Posterior polar
|
68
|
CRYBB3, p.Arg105Gln 0.03 1.000
|
B
|
Total
|
| 70 |
SLC16A12, p.Asn333Asp 0 1.000 |
U |
Nuclear |
