Table 2.

Variants identified by sequencing the exons of EFHC1 in Pakistani JME patients.

No.	Region	NCBI dbSNP ID	Nucleotide change	Amino acid change	Molecular consequence	Genotype counts/(no. of subjects)
						JME probands	Control subjects
1	Exon 3	rs3804506	475C > T	R159W	Missense	19/66	11/108
2	Intron 5	rs1581829739	c.723 + 18_723 + 19insG	N/A	Unknown	1/66	0/108
3	Exon 8	rs764251038	1436 T > C	V460A	Missense	3/66	0/108
4	Exon 8	rs1581846971	1365T > C	P436P	Synonymous	2/66	0/108