Table 2.

Low frequency functional mutations

Gene	First priority	SNV count	Sample count	Mutation (0|1|2)	Mutation 1	GENESKY ControlDB SNV Count	GENESKY ControlDB Mutation (0|1|2)	P1	P2	P3	P4
NOS3	Third	1	1	44|1|0	G19	14	203|15|2	0.399	0.3257	1	0.2235
COL2A1	First1	2	4	45|4|0	G34, G42, G6, G4	10	193|26|1	0.6773	0.6202	1	0.4848
CR2	Second	1	1	48|1|0	G2	5	209|11|0	0.6625	0.7007	1	0.7038

CR2: Complement C3d receptor 2; NOS3: Nitric oxide synthase 3; COL2A1: Collagen type II alpha 1 chain; SNV: Single nucleotide variants. First priority: Take the highest priority of SNVs if the mutation is dominant or homozygous; take the lower one from the top two highest riority SNVs if it is a heterozygous recessive pattern. SNV COUNT: The number of loci contained in the gene. Sample count: The number of samples containing mutaed genes. Mutation (0|1|2): The number of mutations; 0 indicates no mutation, 1 indicates one mutation, and 2 represents at least two mutations; Control: GENESKY database containing 220 samples. P1: The P value for the 2 × 3 χ² test of the sample numbers from the case and control groups with 0, 1, and 2 or more mutations, respectively. P2: The P value for the 2 × 3 χ² test of the sample numbers from the case and control groups with 0, 1, and 1 times or more mutations, respectively. P3: The P value for the 2 × 2 χ² test of the sample numbers from the case and control groups with 0 or 1, and 2 times or more mutations, respectively. P4: The P value for the 2 × 2 χ² test of the sample numbers from the case and control groups with 0 or 1, and 1 times or more mutations, respectively. Mutation 1: Only 1 mutation in the gene.