CRYBB2
|
Ex2
|
c.5C>T
|
p.A2V
|
AD
|
China
|
Congenital posterior subcapsular
|
Ex2
|
c.54G>A
|
p.K18KfsX17
|
|
India
|
Congenital zonular
|
Ex2
|
c.62T>A
|
p.I21N
|
|
China
|
Nuclear
|
Ex2
|
c.92C>G
|
p.S31W
|
AD
|
China
|
Coronary
|
Ex4
|
c.177G>C
|
p.W59C
|
AD
|
India
|
Total
|
Ex5
|
c.383A>T
|
p.D128V
|
AD
|
Germany
|
Nuclear, “ring-shaped” cortical
|
Ex5
|
c.(433C>T; 440A>G; 449C>T)
|
p.(R145W; Q147R; T150M)
|
?
|
Denmark
|
?
|
Ex5
|
c.436G>A
|
p.V146M
|
AD?
|
China
|
Nuclear (Microcornea)
|
Ex6
|
c.452G>C
|
p.W151C
|
AD
|
India
|
Central nuclear
|
Ex6
|
c.463C>T, c.471C>T
|
p.Q155X
|
AD
|
USA
|
Cerulean
|
Ex6
|
c.463C>T, c.471C>T
|
p.Q155X
|
AD
|
Switzerland
|
Central zonular pulverulent
|
Ex6
|
c.463C>T, c.471C>T
|
p.Q155X
|
AD
|
India
|
Sutural cerulean
|
Ex6
|
c.463C>T, c.471C>T
|
p.Q155X
|
AD
|
China
|
Progressive polymorphic
|
Ex6
|
c.463C>T, c.471C>T
|
p.Q155X
|
AD
|
Chile
|
Variable
|
Ex6
|
c.463C>T, c.471C>T
|
p.Q155X
|
AD
|
China
|
Progressive polymorphic coronary
|
Ex6
|
c.463C>T, c.471C>T
|
p.Q155X
|
?
|
India
|
Cortical, pulverulent
|
Ex6
|
c.463C>T, c.471C>T
|
p.Q155X
|
AD
|
China
|
Cerulean
|
Ex6
|
c.477C>A
|
p.Y159X
|
?
|
Denmark
|
?
|
Ex6
|
c.607G>A
|
p.V187M
|
AD
|
Lesotho
|
Nuclear (Strabismus)
|
CRYBB1
|
Ex1
|
c.2T>A
|
p.M1K
|
AR
|
Somalia
|
Nuclear, pulverulent
|
Ex2
|
c.171delG
|
p.G57GfsX107 (p.N58TfsX106)
|
AR
|
Israel
|
Nuclear
|
Ex6
|
c.658G>T
|
p.G220X
|
AD
|
USA
|
Central sutural pulverulent
|
Ex6
|
c.667C>T
|
p.Q223X
|
AD
|
China
|
Nuclear progressive
|
Ex6
|
c.682T>C
|
p.S228P
|
AD
|
China
|
Nuclear (Nystagmus)
|
Ex6
|
c.698G>A
|
p.R233H
|
AD
|
China
|
Nuclear (Nystagmus)
|
Ex6
|
c.757T>C
|
p.X253RextX27
|
AD
|
UK
|
Nuclear cortical riders (Microcornea)
|
CRYBA4
|
Ex4
|
c.190G>T
|
p.G64W
|
|
China
|
Congenital nuclear (Microcornea)
|
Ex4
|
c.206T>C
|
p.L69P
|
AD
|
India
|
? (Microphthalmia)
|
Ex4
|
c.281T>C
|
p.F94S
|
AD
|
India
|
Lamellar
|
GJA3
|
Ex2
|
c.-39C>G
|
|
Cx
|
China
|
Age-related nuclear
|
Ex2
|
c.5G>A
|
p.G2D
|
AD
|
China
|
Nuclear pulverulent, Posterior polar
|
Ex2
|
c.7G>T
|
p.D3Y
|
AD
|
Honduras
|
Zonular pulverulent
|
Ex2
|
c.32T>C
|
p.L11S
|
AD
|
Denmark
|
“Ant-egg”
|
Ex2
|
c.56C>T
|
p.T19M
|
AD
|
India
|
Posterior polar
|
Ex2
|
c.82G>A
|
p.V28M
|
AD
|
India
|
Total, anterior capsular, cortical
|
Ex2
|
c.96C>A
|
p.F32L
|
AD
|
China
|
Nuclear pulverulent
|
Ex2
|
c.98G>T
|
p.R33L
|
AD
|
India
|
Granular embryonal
|
Ex2
|
c.130G>A
|
p.V44M
|
AD
|
China
|
Central nuclear (punctate cortical)
|
Ex2
|
c.130G>A
|
p.V44M
|
AD
|
USA
|
?
|
Ex2
|
c.134G>C
|
p.W45S
|
AD
|
China
|
Nuclear
|
Ex2
|
c.139G>A
|
p.D47N
|
AD
|
China
|
Nuclear
|
Ex2
|
c.176C>T
|
p.P59L
|
AD
|
USA
|
Nuclear punctate
|
Ex2
|
c.176C>T
|
p.P59L
|
AD
|
Denmark
|
?
|
Ex2
|
c.176C>T
|
p.P59L
|
AD
|
China
|
?
|
Ex2
|
c.188A>G
|
p.N63S
|
AD
|
UK
|
Variable pulverulent
|
Ex2
|
c.226C>G
|
p.R76G
|
AD
|
India
|
Total
|
Ex2
|
c.227G>A
|
p.R76H
|
AD
|
Australia
|
Nuclear lamellar pulverulent
|
Ex2
|
c.227G>A
|
p.R76H
|
AD
|
Denmark
|
Lamellar, sutural
|
Ex2
|
c.260C>T
|
p.T87M
|
AD
|
India
|
“Pearl-box”
|
Ex2
|
c.415G>A
|
p.V139M
|
Cx
|
China
|
Age-related cortical
|
Ex2
|
c.560C>T
|
p.P187L
|
AD
|
UK
|
Zonular pulverulent
|
Ex2
|
c.559C>T
|
p.P187S
|
AD
|
China
|
Nuclear pulverulent
|
Ex2
|
c.563A>C
|
p.N188T
|
AD
|
China
|
Nuclear pulverulent
|
Ex2
|
c.1137insC
|
p.S380QfsX87
|
AD
|
UK
|
Punctate
|
Ex2
|
c.1143_1165del23
|
p.381fs*48
|
AD
|
China
|
Punctate nuclear
|
| BFSP1 |
Ex6 |
c.736–957del |
p.T246del74fsX6 |
AR |
India |
Cortical progressive, juvenile onset |
