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["Additional file 1. Genotypes of all probands screened for USH2A deletions/duplications and USH2A: c.7595-2144A>G "]
["Family","Diagnosis","Gene","Allele 1 Protein Change","Allele 2 Protein Change","Pathogenicity Allele 1","Pathogenicity Allele 2","Ethnicitya"]
["46","USH2","USH2A","p.(Glu2288*)","Exon 40 deleted","Pathogenic","Pathogenic","Caucasian"]
["657","USH2","USH2A","p.(Arg63*)","Exon 70 deleted","Pathogenic","Pathogenic","Caucasian"]
["151","USH2","USH2A","p.(Gln1063Serfs*15)","Exon 22-23 deleted","Pathogenic","Pathogenic","Caucasian"]
["148","USH2","USH2A","p.(Glu767Serfs*21)","Exon 27 deleted","Pathogenic","Pathogenic","Caucasian"]
["309","USH2","USH2A","p.(Glu767Serfs*21)","Exon 4 deleted","Pathogenic","Pathogenic","Caucasian"]
["283","USH2","USH2A","p.(Glu767Serfs*21)","Exons 4-13 duplicated","Pathogenic","Pathogenic","Caucasian"]
["707","USH2","USH2A","p.(Glu767Serfs*21)","p.(Lys2532Thrfs*56)","Pathogenic","Pathogenic","Caucasian"]
["24","USH2","USH2A","p.(Glu767Serfs*21)","p.(Lys2532Thrfs*56)","Pathogenic","Pathogenic","Caucasian"]
["477","USH2","USH2A","p.(Glu767Serfs*21)","p.(Thr2310Pro)","Pathogenic","UV3c","Caucasian"]
["531","USH2","USH2A","p.(Glu767Serfs*21)","p.(Gly257Arg)","Pathogenic","UV3c","Unknown"]
["669","USH2","USH2A","p.(Glu767Serfs*21)","p.(Phe1868Cys)","Pathogenic","UV3c","Unknown"]
["432","USH2","USH2A","p.(Glu767Serfs*21)","c.12295-3T>A","Pathogenic","UV3c","Indian"]
["26","USH2","USH2A","p.(Glu2288*)","Unknown","Pathogenic","","Caucasian"]
["161","USH2","USH2A","p.(Glu767Serfs*21)","Unknown","Pathogenic","","Caucasian"]
["225","USH2","USH2A","p.(Asn346His)","Unknown","Pathogenic","","Caucasian"]
["239","USH2","USH2A","p.(Thr4809Ile)","Unknown","Pathogenic","","Caucasian"]
["326","USH2","USH2A","p.(Glu767Serfs*21)","Unknown","Pathogenic","","Caucasian"]
["427","USH2","USH2A","p.(Try318*)","Unknown","Pathogenic","","Afro-Caribbean"]
["433b","USH2","USH2A","p.(Glu767Serfs*21)","Unknown","Pathogenic","","Caucasian"]
["440","USH2","USH2A","p.(Cys620Phe)","Unknown","Pathogenic","","Caucasian"]
["568","USH2","USH2A","p.(Gly4403Profs*15)","Unknown","Pathogenic","","Caucasian"]
["651","USH2","USH2A","p.(Arg1946Leufs*22)","Unknown","Pathogenic","","Caucasian"]
["377","USH2","USH2A","p.(Arg1777Trp)","p.(Asn2285Ser)","UV3","UV2","Indian"]
["558b","USH2","USH2A","p.(Thr281Lys)","p.(Thr281Lys)","UV2","UV2","Turkish Cypriot"]
["29","USH2","USH2A","p.(Arg4192His)","p.(Arg4192His)","UV2","UV2","Caucasian (Italy)"]
["275","USH2","GPR98","p.(Asp1375His)","Unknown","UV2","","Caucasian"]
["546","USH2","USH2A","p.(Cys3281Phe)","Unknown","UV2","","Caucasian"]
["670","USH2","USH2A","p.(Gly1751Val)","Unknown","UV2",null,"Unknown"]
["205b","USH2","USH2A","Unknown","Unknown","","","Indian"]
["5","USH2","Unknown","","","","","Indian"]
["72","USH2","Unknown","","","","",""]
["207","USH2","Unknown","","","","",""]
["304","USH2","Unknown","","","","",""]
["312b","USH2","Unknown","","","","","Black African"]
["368","USH2","Unknown","","","","",""]
["480","USH2","Unknown","","","","","Caucasian"]
["537","USH2","Unknown","","","","",""]
["712","USH2","Unknown","","","","",""]
["128","Atypical Usher","USH2A","p.(Lys2532Thrfs*56)","Unknown","Pathogenic","",""]
["520","Atypical Usher","MYO7A","p.(Leu326Gln)","Unknown","UV2","","Indian"]
["633","Atypical Usher","USH1C","p.(Arg339Gln)","Unknown","UV2","","Caucasian"]
["95","Atypical Usher","Unknown","","","","",""]
["153","Atypical Usher","Unknown","","","","",""]
["223","Atypical Usher","Unknown","","","","",""]
["236","Atypical Usher","Unknown","","","","",""]
["423b","Atypical Usher","Unknown","","","","",""]
["426","Atypical Usher","Unknown","","","","",""]
["501","Atypical Usher","Unknown","","","","",""]
["631","Atypical Usher","Unknown","","","","",""]
[]
["Variants in bold were identified in this study by USH2A MLPA or sequencing for USH2A: c.7595-2144A>G. Variants not in bold had been previously published in these individuals [7]. "]
[]
["a Where Caucasian is used to describe ethnicity this denotes UK and European. "]
["b Consanguineous family."]
["c Variants were previously published as UV2, as frequency was initially only assesed in 96 control chromosomes [7]. Further investigation in exome variant server [http://evs.gs.washington.edu/EVS/] and 1000 genomes  [http://www.1000genomes.org/] reveals a control frequency of less than 0.236%. In addition these variants have been found in individuals with a pathogenic mutations in the same gene, although phase is unknown. Based on this evidence, and in line with the mutation classification criteria in our previous study, variants have subsequently been revised to UV3 [7]. "]