TABLE 3.

Novel variants discovered by sequencing.

Chr	Pos (hg38)	Ref	Alt	Variant	Gene	Strand	Possible function	nb of chr	Carriers
3	119947358	A	G	NC_000003.12:g. 119947358A > G	GSK3B	R	Intronic, no obvious function	3	d31, d138, d140
8	32614509-32614510	TT	del	NC_000008.11:g. 32614509_32614510del	NRG1	F		2	d95, d129
	32756363	A	dup	NC_000008.11:g. 32756363dup				1	d61
	32763214	T	G	NC_000008.11:g. 32763214T > G				2	d59, d128
10	22539905-22539911	GAGAGAG	del	NC_000010.11:g. 22539905_22539911del	PIP4K2A	R		1	d104
	22539924-22539937	AGAGAGAGGGAGAG	del	NC_000010.11:g. 22539924_22539937del				2	d18, d87
11	27658302	T	C	NC_000011.10:g. 27658302T > C	BDNF	R	Missense in all transcripts, Asp > Gly (acidic to neutral non-polar); deleterious/damaging (†ANNOVAR); allele G (reverse compliment) may affect splicing of the last intron of all BDNF’s transcripts, by erasing an exonic splicing enhancer motif (†HumanSplicingFinder)	1	d99
X	114906768-114906848	CAAGCTTTGATGTTACTGC ACGGCCACACCGAGG AACCGCCTGGACTAAGTCT GGATTTCCTGAA GTGCTGCAAGAGGAAT	del	NC_000023.11:g. 114906768_1149 06848del	HTR2C	F	Inframe deletion of 27 aa or frameshift deletion of 27 aa, resulting in 1 aa inserted; deleterious (†PROVEAN); may affect splicing of the last intron of all HTR2C’s transcripts, by erasing multiple exonic splicing enhancer motifs (†HumanSplicingFinder)	1	d128

Chr, chromosome; pos, position in the human genome; ref, reference allele; alt, alternate allele; ^†used algorithms.