NFXL1 coding variants observed in 117 UK (SLIC) probands affected by SLI.

1 – Variant allele freq (VAF) in 117 UK SLIC probands is estimated by Syzygy using the proportion of reads that have the variant2 – Median read depth for given base across all pools3 - Variant allele frequency (VAF) in 1000 genomes super-populations (Integrated phase I data, accessed March 2014). ALL – all 1000 genomes populations combined (No. alleles ∼ 2184), AFR – African populations (YRI, LWK, GWD, MSL, ESN, ASW & ACB, No. chromosomes = 492), AMR – Ad mixed Americans (MXL, PUR, CLM, PEL, No. chromosomes = 362),ASN – East Asian (CHB, JPT, CHS, CDX & KHV, No. chromosomes = 572), EUR-European (TSI, FIN, GBR, IBS, no. chromosomes = 758).4 – Exome Sequencing Project (ESP) variant allele frequency (VAF). EA – European Americans (no. chromosomes = 8600), AA – African Americans (no. chromosomes = 4268).5 – Combined variant allele frequency across European controls from 1000 genomes and EVS (no. chromosomes = 9358)6 – Allele frequency in SLI probands after confirmatory Sanger sequencing (no. chromosomes = 234)7 – Amino acid change conferred by given sequence variant in protein NP_694540.3. If the change occurs within a conserved motif, this is noted.8 – Fisher’s exact test for differences in allele frequencies between EVS European Americans and SLIC probands. ns = non-significant PNT = not testedNs = not significantNFXL1 coding variants observed in 117 UK (SLIC) probands affected by SLI.