Suzanne de Bruijn

197 Structural variants cause ectopic enhancer-gene contact in retinitis pigmentosa SUPPLEMENTARY TABLES Table S1. Previously reported CA4 variants Genome cDNA Protein Ethnicity gnomAD AF all gnomAD AF subpopulation CADD_ PHRED Detection method References g.58227429G>A c.4C>T p.Ala12Thr Chinese 0.000004471 - (other EAS) 6.280 Targeted sequencing of CA4 Tian et al., 2010 g.58227435C>T c.40C>T p.Arg14Trp South- African 0.0002410 0.0001368 (AFR) 15.94 Locus gene sequencing (RP17) This study (SA1-4), Rebello et al., 2004; Yang et al., 2005 g.58234014G>A c.206G>A p.Arg69His Chinese 0.00004374 0.0001087 (other EAS) 0.005 Targeted sequencing of CA4 Alvarez et al., 2007 g.58235718C>A c.655C>A p.Arg219Ser Northern European 0.00003186 0.0001163 (NWE) 26.6 Targeted sequencing of CA4 Yang et al., 2005 g.58235763G>A c.700G>A p.Val234Ile Spanish 0.01015 0.01757 (NWE) 9.468 Targeted sequencing of 12 adRP genes De Sousa Dias et al., 2013 Overview of CA4 (NM_000717.4) variants reported in literature. A CADD_PHRED score of ≥15 and allele frequency ≤0.0001 are considered as pathogenicity criteria. Values that meet these criteria are indicated in red. The p.Arg14Trp variant was found in families SA1-4 that are included in this manuscript and carriers of SA-SV3. Genome, genomic position based on hg19; gnomAD AF all, allele frequency in gnomAD v.2.1.1 database; gnomAD AF subpopulation, allele frequency in gnomAD v.2.1.1 based on subpopulation corresponding to the ethnicity of the affected individual in which the variant was reported in literature; CADD_PRED, Combined Annotation Dependent Depletion PHRED score; other EAS, other East Asian population; AFR, African population; NEW, Northwest European population.