Molecular Vision: Meng, Mol Vis 2019; 25:654-662. Table 1

Table 1. Mutation screening results of the CYP4V2 of the BCD patients and function analysis of novel mutations in this study.

Exon	Nucleotide change	Amino acid change	report
Exon1	c.65T>A	p.L22H	reported [23]
Intron1	c.215-2A>G	splicing	Reported [15]
Exon2	c.219T> A	p.F73L	Reported [42]
Intron1	c.215-1G>T	splicing	Reported [15]
Exon2	c.283G>A	p.G95R	Reported [7]
Exon4	c.492 delT	p.D164EfsX3	novel
Exon7	c.802-6_810delATACAGGTCATCGCT	p.268_270del	novel
Intron3	c.413+2T>G	splicing	Reported [18]
Exon4	c.414_450del	p.S138Rfs*1	novel
Exon7	c.802-8_810del17insGC	p.V268fs*7	Reported [8]
Exon7	c.810del T	p.A270fs	Reported [26]
Exon7	c.804-6_810del	p.V268_270del	novel
Exon7	c.796_810del	p.268_270del	novel
Exon7	c.802-8-807delCATACAGGTCATC	deleting	novel
Exon7	c.958C > T	p.R320X	Reported [15]
Exon8	c.988G >A	p.G330 R	novel
Exon8	c.992A >C	p.H331P	Reported [3]
Exon8	c.1020G >A	p.W340X	Reported [8]
Exon8	c.1057dupA	p.V355S fs*4	novel
Intron8	c.1091-2A >G	splicing	Reported [8]
Exon9	c.1199G >A	p.R400H	Reported [7]
Exon9	c.1168C >T	p. R390C	Reported [16]
Exon9	c.1187C >G	p.P396R	novel
Exon10	c.1247G>T	p.G416V	novel
Exon10	c.1354C>T	p.R452C	novel
Exon10	c.1384G>C	p.A462P	novel
Exon10	c.1396A >G	p.N466 D	Reported [39]
Intron10	c.1406-1G>A	splicing	novel