The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa

BMC Genomics

Table 1 Strong candidate variants in familiar cases

Family	Inheritance	Gene	Genotype	Chr	Exon	nucleotide	amino acid	Mutation Type	Reference	EVS	In-house	Class
F03	AD	RP1	Hetero	8	4	c.1455 T > G	p.Y485X	nonsense	novel	-	-	II
F04	X-L	RP2	Hemi	X	2	c.340 T > C	p.C114R	nonsynonymous	novel	-	-	II
F06	AD	RP1	Hetero	8	4	c.2296C > T	p.Q766X	nonsense	novel	-	-	II
F07	AD	PRPF31	Hetero	19	6	c.421-1G > A		splicing	Xia et al. [11]	-	-	I
F09	AD	RHO	Hetero	3	5	c.1040C > T	p.P347L	nonsynonymous	rs29001566	-	-	I
F10	AD	KLHL7	Hetero	7	5	c.458C > T	p.A153V	nonsynonymous	rs137853113	-	-	I
F12	X-L	RP2	Hemi	X	2	c.560_561delGC	p.Ser187fs	Frameshift deletion	novel	-	-	II
F13	AD	RHO	Hetero	3	3	c.533A > G	p.Y178C	nonsynonymous	rs104893776	-	-	I
XF1	AD	TOPORS	Hetero	9	2	c.2344C > T	p.R782X	nonsense	novel	-	0.0052083	II
XF3	AD	PRPF31	Hetero	19	10	c.1060C > T	p.R354X	nonsense	Sullivan et al. [12]	-	-	I

Chr: chromosome; Homo: homozygous; Hetero: heterozygous; Hemi: hemizygous; AD: Autosomal Dominant; X-L X-linked
In-house: Korean normal reference consisting of 192 exomes

ISSN: 1471-2164