Table 1.

A. Distributions of allele frequencies of rare variants in the CEP164 gene in PCG. B. Distributions of rare variants in the INPP5E gene in PCG.

Chromosomal Position (GRCh38)	Amino Acid Change	dbSNP ID	REVEL Score	Cases MAF (n = 298)	Controls MAF (n = 1757)	p Value	Odds Ratio (95% CI)	1000 Genomes (n = 2504); gnomAD v4.1 (n = 807,162); All of Us (n = 245,400)
A
11: 117361989T > A	p.M183K	rs144206271	0.18	0.0016	0.0003	0.15	5.91 (0.37–94.74)	0.0008; 0.00063; 0.0006
11: 117375787G > A	p.R438Q	rs137987733	0.05	0.0016	0.0003	0.15	5.91 (0.37–94.74)	NA; 0.00018; 0.0001
11: 117381729C > T	p.R480W	rs112209873	0.04	0.0016	0	-	-	0.001; 0.00019; 0.00068
11: 117381810G > T	p.A507S	NA	0.08	0.0016	0	-	-	NA
11: 117391109A > G	p.K726R	rs2044597036	0.02	0.0016	0	-	-	NA
11: 117393037G > A	p.V843M	rs566117718	0.09	0.0016	0.0008	0.55	1.96 (0.20–18.98)	0.0012; 0.00005; 0.000016
11: 117394360A > G	p.Q876R	rs752659513	0.13	0.0033	0.0003	0.01	11.86 (1.07–131.20)	NA; 0.000044; 0.000006
11: 117394981G > C	p.R941T	rs749310077	0.03	0.0016	0	-	-	NA; 0.0000006; NA
11: 117395553A > G	p.T974A	rs56699807	0.04	0.0033	0.0003	0.01	11.86 (1.07–131.20)	0.0002; 0.0003; 0.0003
11: 117397186G > A	p.R1125Q	rs767918200	0.03	0.0016	0.0008	0.55	1.96 (0.20–18.98)	NA; 0.000015; 0.000002
11: 117397192G > A	p.R1127Q	rs753895198	0.16	0.0016	0	-	-	NA; 0.000009; 0.000016
11: 117407962G > A	p.R1180Q	rs568896676	0.02	0.0050	0.0006	0.004	8.92 (1.48–53.61)	NA; 0.00001; 0.000012
11: 117408909T > G	p.L1210R	rs767571570	0.17	0.0016	0	-	-	NA; 0.000003; NA
11: 117409864C > T	p.T1332I	rs760788324	0.03	0.0016	0	-	-	NA; 0.000006; NA
11: 117411806G > A	p.R1392Q	rs772989312	0.07	0.0016	0.0011	0.72	1.47 (0.16–13.24)	NA; 0.000012; 0.000016
B
9: 136438722C > G	p.S233T	rs568767788	0.35	0.0016	0.0003	0.15	5.91 (0.37–94.74)	0.00039; 0.000026; 0.000006
9: 136438785A > C	p.V212G	rs533861933	0.54	0.0016	0.0017	0.98	0.98 (0.11–8.18)	0.00019; 0.0000068; 0.00001

MAF = Minor allele frequency; NA = Not available.; - = Cannot be determined.