Suzanne de Bruijn

264 Chapter 5 SUPPLEMENTARY TABLES Table S1. Genotype of reference cohort with biallelic pathogenic variants in SLC26A4 Allele 1 Allele 2 Case Variant ACMG Variant ClinVar SLC087 c.1147del; p.(Gln383Argfs*49) UV5 c.1147del; p.(Gln383Argfs*49) UV5 SLC088 c.2T>C; p.(Met1?) UV5 c.707T>C; p.(Leu236Pro) UV5 SLC089 c.890del; p.(Pro297Glnfs*6) UV5 c.1246A>C; p.(Thr416Pro) UV5 SLC090 c.1001+1G>A; p.(?) UV5 c.1001+1G>A; p.(?) UV5 SLC091 c.1225C>T; p.(Arg409Cys) UV5 c.707T>C; p.(Leu236Pro) UV5 SLC092 c.1694G>A; p.(Cys565Tyr) UV5 c.707T>C; p.(Leu236Pro) UV5 SLC093 c.754T>C; p.(Ser252Pro) UV4 c.1174A>T; p.(Asn392Tyr) UV5 SLC094 c.2048T>C; p.(Phe683Ser) UV5 c.707T>C; p.(Leu236Pro) UV5 SLC095 c.1246A>C; p.(Thr416Pro) UV5 c.707T>C; p.(Leu236Pro) UV5 Genotype of a control cohort of nine subjects with two (likely) pathogenic variants in the coding or splice site regions of SLC26A4 and a Pendred syndrome phenotype. Segregation analysis to confirm biallelic occurrence of the variants could be carried out in all subjects, except for subjects SLC091 and SLC092. ACMG, variant classification according to the American College of Medical Genetics and Genomics (ACMG) classification guidelines 1 ; UV4, likely pathogenic; UV5, pathogenic.