Table 2 Summary of Sema4A gene sequencing results.

Exon		Base change		Codon		Amino acid		No of patients/ controls
Pathogenic changes
10		1033G→C		GAC‐CAC		D345H		4 patients
		1049T→G		TTT‐TGT		F350C
15		2138G→A		CGG‐CAG		R713Q		4 patients
Nonpathogenic changes
2		39C→A		CTC‐CTA		L13L		6 patients
8		762T→C		TTT‐TTC		F254F		11 patients
Intron 10		CAdel, 26bp downstream of exon 10						13 patients, 11 controls
15		1716C→T		CCC‐CCT		P572P		9 patients