Table 3.

CPB1 variants identified in Japanese patients with CP

								P Value
Exon	Nucleotide Change	Amino Acid Change	Genotype	All CP (%)	NACP (%)	ACP (%)	HGVD (%)	All CP	NACP	ACP
Nonsynonymous
7	c.622G>A	p.D208N	GA	155/477 (32.5)	80/243 (32.9)	75/234 (32.1)	409/1191 (34.3)	0.42	0.54	0.56
			AA	27/477 (56.6)	14/243 (5.8)	13/234 (5.6)	51/1191 (4.3)
8	c.694T>C	p.F232L	TC	29/477 (6.1)	13/243 (5.3)	16/234 (6.8)	45/1132 (4.0)	0.18	0.39	0.15
			CC	1/477 (0.2)	1/243 (0.4)	0/234 (0)	3/1132 (0.3)
11	c.950C>T	p.A317V	CT	1/477 (0.2)	0/243 (0)	1/234 (0.4)	3/803 (0.4)	1.00	1.00	1.00
Splice site
Intron 7	c.687 + 1G>T		GT	1/477 (0.2)	1/243 (0.4)	0/234 (0)	0/673 (0)	0.41	0.27	1.00
Synonymous
9	c.828C>T	p.A276=	CT	2/477 (0.4)	1/243 (0.4)	1/234 (0.4)	1/429 (0.2)	1.00	1.00	1.00
11	c.1182C>T	p.I394=	CT	1/477 (0.2)	1/243 (0.4)	0/234 (0)	2/429 (0.5)	0.61	1.00	0.54

P values were determined between HGVD and all CP, NACP, or ACP by the Fisher's exact test.