Molecular Vision: Rao, Mol Vis 2017; 23:624-637. Table 2

Table 2. The reported mutations in the CRYBB1 gene.

Gene	Exon/ Intron	DNA Change	Coding Change	Inheritance	Origin	Cataract Phenotype	Other Phenotype	Ref.
CRYBB1	Ex1	c.2T>A	p.M1K	AR	Somalia	Nuclear, pulverulent		[32]
CRYBB1	Ex2	c.171delG	p.G57GfsX107 (p.N58TfsX106)	AR	Israel	Nuclear		[13]
CRYBB1	Ex2	c.171delG	p.N58TfsX106	AR	Arabian	Pulverulent		[31]
CRYBB1	Ex3	c.286G>T	p.V96F	AD	USA	congenital	Glaucoma, microcornea	[30]
CRYBB1	Ex4	c.368G>A	p.R123H	AD	Australia			[29]
CRYBB1	Ex4	c.387C>A	p.S129R	AD	China	Nuclear	Microcornea	[28]
CRYBB1	Ex6	c.658G>T	p.G220X	AD	Portland	Nuclear progressive		[22]
CRYBB1	Ex6	c.667C>T	p.Q223X	AD	China	Nuclear progressive		[27]
CRYBB1	Ex6	c.682T>C	p.S228P	AD	China	Nuclear	Nystagmus	[14]
CRYBB1	Ex6	c.698G>A	p.R233H	AD	China	Nuclear	Nystagmus	[26]
CRYBB1	Ex6	c.757T>C	p.X253RextX27	AD	UK	Nuclear Cortical riders	Microcornea	[9]