Table 2.

Clinical information of patients with rare deleterious variants in SLC16A8 and corresponding variant annotation

Gender	Phenotype	Cobb angle (largest)	Myopia degree	Variant location*	Mask level	Consequence	GnomAD exome AF†
Female	High myopia, thoracic and lumbar scoliosis	50	800	chr22_38477341_CT_C	mask1	Frameshift	0
Female	High myopia, lumbar scoliosis, spondylolisthesis	60	800	chr22_38477354_C_A	mask1	Stop gained	0.00001563
Female	High myopia, hepatic hemangioma, renal hamartoma, thoracic and lumbar scoliosis, finger joint hypermobility, brown skin plaques	52	800	chr22_38478666_C_G	mask1	Splice donor loss	7.30E-05
Female	Myopia, thoracic and lumbar scoliosis	45	500	chr22_38477158_C_T	mask2m	Missense	0
Female	Thoracic scoliosis, ventricular septal defect	78	Unkown	chr22_38477644_A_G	mask3m	Missense	0

*The location is according to the GRCh37 reference.

†Frequency represents the highest frequency of all the available ancestries.

AF, allele frequency; GnomAD, Genome Aggregation Database.