. 2016 Feb 20;22:161–167.

Table 1. LOXL3 mutations identified in families with early-onset high myopia.

Family	Exon	Position	DNA change	Protein change	Status	Co-segregation	Note	Allele frequency
Family	Exon	Position	DNA change	Protein change	Status	Co-segregation	Note	Normal control	Others^§	Databases^#
HM293	E2	74779723	c.39dup	p.L14Afs*21	Homo	Yes	Novel	0/960	0/1014	None
HM407	E2	74779723	c.39dup	p.L14Afs*21	Hetero	Yes	Novel	0/960	0/1014	None
HM407	E4	74776594	c.594delG	p.Q199Kfs*35	Hetero	Yes	Novel	0/960	0/1014	None

Note: Homo, homozygous; Hetero, heterozygous. §, Samples from patients with other eye diseases, including glaucoma and retinal degeneration. #, Databases including 1000Genomes, Exome Variant Server, dbSNP, and Exome Aggregation Consortium.