Table 9. Distributions of rare variants in the DLG1 gene.

Patient ID	Gender	Age (years)	Nucleotidechange	Amino acidchange	ChromosomePosition	Exon	Sequencing method
CD Family A
Father(diagnosed)	Male	44	c.374T>C	p.I125T	chr3_196921405	4	Exome
Daughter(diagnosed)	Female	16	c.374T>C	p.I125T	chr3_196921405	4	Exome
Mother(unaffected)	Female	42	–	–	–	–	Exome
Grandma(unaffected)	Female	81	–	–	–	–	Exome
CD Family B
Case 1(diagnosed)	Male	39	c.833G>A	p.R278Q	chr3_196865242	9	Direct PCR sequencing
Case 2(diagnosed)	Male	42	c.833G>A	p.R278Q	chr3_196865242	9	Direct PCR sequencing
Case 3(diagnosed)	Female	32	c.833G>A	p.R278Q	chr3_196865242	9	Direct PCR sequencing
Case 4(diagnosed)	Female	24	c.833G>A	p.R278Q	chr3_196865242	9	Direct PCR sequencing
CJ 5(undiagnosed)	Female	56	c.833G>A	p.R278Q	chr3_196865242	9	Direct PCR sequencing
CJ 6(undiagnosed)	Female	6	c.833G>A	p.R278Q	chr3_196865242	9	Direct PCR sequencing
CJ 7(undiagnosed)	Female	6	c.833G>A	p.R278Q	chr3_196865242	9	Direct PCR sequencing
CJ 8(undiagnosed))	Male	7	c.833G>A	p.R278Q	chr3_196865242	9	Direct PCR sequencing