Molecular Vision: Strom, Mol Vis 2013; 19:980-985. Table 1

Table 1. Coding length, coverage, and variant summaries for 36 autosomal dominant retinal dystrophy genes culled from the EVS6500 database.

Gene	CDS	% Covered	Rare Variants		Private Variants
	CDS	% Covered	%	%	%	%
	Length	≥20x	Missense	Nonsense	Missense	Nonsense
AIPL1	1,152	100	0.43	0.05	0.29	0.03
BEST1	1,812	91.4	0.69	0.02	0.45	0.02
CA4	936	53.8	0.29	0	0.18	0
CRB1	4,218	82.7	1.4	0.05	0.91	0.05
CRX	897	100	0.31	0	0.2	0
EFEMP1	1,479	100	0.4	0	0.31	0
ELOVL4	942	100	0.22	0	0.18	0
FSCN2	1,548	100	0.75	0.02	0.51	0.02
GUCA1A	603	33.3	0.17	0	0.05	0
GUCA1B	600	94.8	0.26	0.05	0.18	0.03
GUCY2D	3,309	100	1	0	0.74	0
HMCN1	16,905	73.4	6.19	0.11	4.14	0.09
IMPDH1	1,797	100	0.46	0.03	0.26	0.03
KLHL7	1,758	79.7	0.26	0	0.23	0
C1QTNF5	1,737	100	0.86	0.02	0.6	0.02
NR2E3	1,230	62.8	0.49	0.02	0.31	0.02
NRL	711	53.5	0.18	0	0.09	0
PITPNM3	2,922	90.7	0.86	0	0.63	0
PROM1	2,595	96.9	1	0.05	0.65	0.03
PRPF3	2,049	100	0.23	0	0.22	0
PRPF31	1,497	93	0.32	0	0.25	0
PRPF6	2,823	99	0.35	0	0.28	0
PRPF8	7,005	99.9	0.4	0.02	0.32	0.02
PRPH2	1,038	100	0.22	0	0.14	0
RHO	1,044	100	0.49	0.02	0.31	0.02
RIMS1	5,076	88.5	1.03	0.02	0.78	0
ROM1	1,053	97	0.48	0.02	0.22	0.02
RP1	6,468	100	1.91	0.06	1.34	0.06
RP1L1	7,200	89.9	4.17	0.11	2.77	0.09
RP9	663	77.7	0.12	0	0.08	0
RPE65	1,599	100	0.45	0.03	0.34	0.03
SEMA4A	2,283	96.6	0.63	0	0.42	0
SNRNP200	6,408	99.8	0.85	0.02	0.65	0.02
TIMP3	633	81.2	0.06	0	0.02	0
TOPORS	3,135	98.2	0.82	0	0.6	0
UNC119	720	71.8	0.23	0.02	0.18	0.02

Rare is defined as having a minor allele frequency of <0.1%, including private variants (observed in only one individual). Boxes containing very long genes (95th percentile), coverage rates of <80%, and variant rates >1% are marked with bold text. These data suggest that when performing DNA sequencing of the complete coding sequence of the highlighted genes, rare missense variants are likely to be identified regardless of disease state. For such variants, their impact on disease will thus be difficult to interpret. Abbreviations: CDS, coding sequence; kb, kilobases; 20x, percentage of coding bases covered on average by at least 20 independent sequence reads.