Table 1.

Summary of previously reported biallelic BEST1 mutations with premature termination codon

Patient number	Allele 1			Allele 2
	Nucleotide	Amino acid	Termination position	Nucleotide	Amino acid	Termination position	Fundus appearance	References
1	c.15C>A	p.Y5X	5	c.430A>G	p.S144G		ARB	Lacassagne et al. [30]
2	c.87C>G	p.Y29X	29	c.422G>A	p.R141H		BVMD	Schatz et al. [27]
3	c.102C>T	p.E35WfsX11	45	c.1470_1471delCA	p.H490QfsX24	513	ARB	Davidson et al. [18]
4	c.172_173dupCA	p.Q58HfsX4	61	c.584C>T	p.A195V		ARB	Borman et al. [21]
5	c.175_176dupCA	p.Q59HfsX3	61	c.175_176dupCA	p.Q59HfsX3	61	ARB	Boon et al. [22]
6	c.475C>T	p.Q159X	159	c.422G>A	p.R141H		BVMD	Borman et al. [21]
7	c.519delA	p.K173NfsX2	174	c.860G>A	p.W287X	287	ARB	Tian et al. [29]
8	c.598C>T	p.R200X	200	c.598C>T	p.R200X	200	ARB	Burgess et al. [11]
9	c.263_279del17	p.L88LfsX138	225	c.584C>T	p.A195V		ARB	Gerth et al. [25]
10	c.521_522delTG	p.L174EfsX57	230	c.521_522delTG	p.L174EfsX57	230	ARB	Pomares et al. [26]
11	c.762delG	p.R255GfsX4	258	c.74G>A	p.R25Q		ARB	Boon et al. [22]
12	c.1100 + 1G>A	p.V317PfsX33	349	c.1100 + 1G>A	p.V317PfsX33	349	ARB + BVMD	Pomares et al. [26]
13	c.1066C>T	p.R356X	356	c.550C>T	p.P184S		ARB	Borman et al. [21]
14	c.1038duC	p.Y347LfsX54	400	c.553A>C	p.H178P		ARB	Borman et al. [21]
15	c.1212delC	p.P404PfsX78	481	c.637G>A	p.E213K		ARB	Silva et al. [31]
16	c.1415delT	p.L472PfsX10	481	c.1415delT	p.L472PfsX10	481	BVMD	Bitner et al. [16]
17	c.1470_1471delCA	p.H490QfsX24	513	c.584C>T	p.A195V		BVMD	Kinnick et al. [32]
18	c.1669delG	p.E557NfsX52	608	c.934G>A	p.D312N		BVMD	Sodi et al. [33]