Table 3. FRMD7 sequence variations detected in family M

Single nucleotide polymorphisms (SNPs) detected during resequencing of the FRMD7 gene in family M. All 6 SNPs were found in the heterozygous state. The asterisk indicates that the reference allele is shown on the left. The SNPs in exon 2 and exon 12 resulted in synonymous amino acid changes at serine 23 and isoleucine 511, respectively. IVS denotes intervening (intron) sequence. UTR denotes untranslated region.