. 2021 Jan 29;4:140. doi: 10.1038/s42003-021-01662-9

Table 3.

Genotypes for G843E, S1653Kfs, and S2556C in EYS.

	Controls	Solved cases (N = 227)	Unsolved cases (N = 640)
Genotype count (G843E)
REF/REF	4611 (96.6%)	76 (96.2%)	139 (94.6%)	98 (66.7%)	437 (88.6%)
REF/G843E	161 (3.4%)	3 (3.8%)	8 (5.4%)	48 (32.7%)	44 (8.9%)
G843E/G843E	1 (0.0%)	0 (0.0%)	0 (0.0%)	1 (0.6%)	12 (2.4%)
Allele count (G843E)
REF	9383 (98.3%)	155 (98.1%)	286 (97.3%)	244 (83.0%)	918 (93.1%)
G843E	163 (1.7%)	3 (1.9%)	8 (2.7%)	50 (17.0%)	68 (6.9%)
MAF	0.017	0.019	0.027	0.170	0.069
Genotype count (S1653Kfs)
REF/REF	4,731 (99.1%)	27 (34.2%)	148 (100%)	83 (56.5%)	493 (100%)
REF/S1653Kfs	42 (0.9%)	29 (36.7%)	0 (0.0%)	64 (43.5%)	0 (0.0%)
S1653Kfs/S1653Kfs	0 (0.0%)	23 (29.1%)	0 (0.0%)	0 (0.0%)	0 (0.0%)
Genotype count (S2556C)
REF/REF	2949 (61.8%)	62 (78.5%)	84 (56.8%)	50 (34.0%)	152 (31.0%)
REF/S2556C	1,605 (33.6%)	13 (16.5%)	58 (39.2%)	79 (53.7%)	261 (53.2%)
S2556C/S2556C	219 (4.6%)	4 (5.1%)	6 (4.1%)	18 (12.2%)	78 (15.9%)

Controls

Solved cases (N = 227)

Unsolved cases (N = 640)

ToMMo

EYS

nonEYS

With EYS path mut

No EYS path mut

Genotype count (G843E)

REF/REF

4611

(96.6%)

(96.2%)

139

(94.6%)

(66.7%)

437

(88.6%)

REF/G843E

161

(3.4%)

(3.8%)

(5.4%)

(32.7%)

(8.9%)

G843E/G843E

(0.0%)

(0.6%)

(2.4%)

Allele count (G843E)

REF

9383

(98.3%)

155

(98.1%)

286

(97.3%)

244

(83.0%)

918

(93.1%)

G843E

163

(1.7%)

(1.9%)

(2.7%)

(17.0%)

(6.9%)

MAF

0.017

0.019

0.027

0.170

0.069

Genotype count (S1653Kfs)

REF/REF

4,731

(99.1%)

(34.2%)

148

(100%)

(56.5%)

493

(100%)

REF/S1653Kfs

(0.9%)

(36.7%)

(0.0%)

(43.5%)

(0.0%)

S1653Kfs/S1653Kfs

(0.0%)

(29.1%)

(0.0%)

Genotype count (S2556C)

REF/REF

2949

(61.8%)

(78.5%)

(56.8%)

(34.0%)

152

(31.0%)

REF/S2556C

1,605

(33.6%)

(16.5%)

(39.2%)

(53.7%)

261

(53.2%)

S2556C/S2556C

219

(4.6%)

(5.1%)

(4.1%)

(12.2%)

(15.9%)

ToMMo⁵¹: Normal Japanese population (N = 4773). EYS: retinitis pigmentosa patients genetically solved with biallelic EYS mutations. nonEYS: retinitis pigmentosa patients genetically solved with mutations in genes other than EYS. With EYS path mut: genetically unsolved retinitis pigmentosa patients with a heterozygous deleterious EYS mutation. No EYS path mut: genetically unsolved retinitis pigmentosa patients with no deleterious EYS mutation. The status of EYS mutations was extracted from a previous NGS panel test study¹¹.