Table I.

Nonsense mutations in the L1 cell adhesion molecule gene.

Author (year)	Position in the gene (exon no.)	Nucleotide change	Consequence	Country	(Refs.)
Gu et al, 1996	08	c.828G>A	p.Trp276Ter	Germany	(21)
Gu et al, 1997	11	c.1318C>T	p.Gln440Ter	Germany	(22)
	23	c.3124C>T	p.Gln1042Ter
Finckh et al, 2000	04	c.316C>T	p.Q106X	Germany	(7)
	11	c.1267C>T	p.Q423X
	26	c. 3496C>T	p.R1166X
	02	c.79G>T	p.E27X
	21	c.2746G>T	p.G916X
	06	c.614C>A c.615C>G	p.S205X
	13	c.1672C>T	p.R558X
	14	c.1786G>T	p.E597X
Okamoto et al, 2004	22	c.2974C>T	p.Gln992Ter	Japan	(8)
Kanemura et al, 2006	26	c.3496C>T	p.R1166X	Japan	(23)
Jackson et al, 2009	13	c.1674C>T	p.R558X	USA	(24)
Takenouchi et al, 2012	01	c.61C>T	p.Q21X	Japan	(25)
Adle-Biassette et al, 2013	06	c.621C>A	p.Tyr207X	France	(26)
	07	c.772C>T	p.gln258X
	08	c.871C>T	p.gln291X
	08	c.892C>T	p.gln298X
	12	c.1380G>A	p.Trp460X
	12	c.1453C>T	p.Arg485X
	12	c.1453C>T	p.Arg485X
	15	c.1882C>T	p.gln628X
	16	c.1989C>G	p.Tyr663X
	21	c.2785C>T	p.gln929X
	23	c.3163G>T	p.gly1055X
	23	c.3107G>A	p.Trp1036X
Marín et al, 2015	26	c.3478C>T	P.Gln1160X	Spain	(27)
Ochando et al, 2016	18	c.2239C>T	P.Gln747X	Spain	(18)
Guo et al, 2020	21	c.2865C>A	p.Y955X	China	(16)