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["Supplemental Table S1: Exon-level information in Category 1 Genes"]
["Gene","RefSeq Transcript","Clinically relevant exons","Exons of uncertain significance","Clinically insignificant exons","Noncoding exons","# of variants in uncertain exons","Common LoF in clinically insignificant or uncertain exons (c. and p.)","Allele frequency","Subpopulation"]
["ATP6V1B1","NM_001692.3","2-14",1,null,null,"2B, 3VUS, 1P, 5DM","c.2T>C (p.M1?) ",0.5,"European"]
["ALMS1","NM_015120.3","1-23"]
["BSND","NM_057176.2","1-4"]
["CEACAM16","NM_001039213.3","2-7",null,null,1]
["CISD2","NM_001008388.4","1-3"]
["CLPP","NM_006012.2","1-6"]
["COL4A3","NM_000091.4","1-52"]
["COL4A4","NM_000092.4","2-48",null,null,1]
["EPS8","NM_004447.5","2-21",null,null,1]
["ESPN","NM_031475.2","1-13"]
["ESRRB","NM_004452.3","4-11",null,null,"1-3"]
["GIPC3","NM_133261.2","1-6"]
["GJB2","NM_004004.5","1-2"]
["GPR98 (ADGRV1)","NM_032119.3","1-90"]
["GRHL2","NM_024915.3","1-16"]
["GRXCR1","NM_001080476.2","1-4"]
["LARS2","NM_015340.3","3-22",null,null,"1-2"]
["LHFPL5","NM_182548.3","1-3",null,null,4]
["MYH9","NM_002473.5","2-41",null,null,1]
["MYO3A","NM_017433.4","3-35",null,null,"1-2"]
["MYO15A","NM_016239","2-66",null,26,1,"Exon 26: 1B, 2LB, 2VUS, 1P, 2DM","Exon 26: c.5925G>A (p.Trp1975*) ",1.2999999999999999E-2,"South Asian"]
["OTOGL","NM_173591.3","1-58"]
["POU3F4","NM_000307.4","1"]
["POU4F3","NM_002700.2","1-2"]
["PTPRQ","NM_001145026.1","1-45"]
["S1PR2","NM_004230.3","2",null,null,1]
["SIX1","NM_005982.3","1-2"]
["SLC26A4","NM_000441.1","1-21"]
["SLC52A3","NM_033409.3","2-5",null,null,1]
["SLITRK6","NM_032229.2","2",null,null,1]
["SMPX","NM_014332.2","2-4",null,null,"1, 5"]
["SNAI2","NM_003068.4","1-3"]
["SOX10","NM_006941.3","2-4",null,null,1]
["STRC","NM_153700.2","1-29"]
["TECTA","NM_005422.2","1-23"]
["TMC1","NM_138691.2","5-24",null,null,"1-4"]
["TMIE","NM_147196.2","1-4"]
["TPRN","NM_001128228.2","1-4"]
[]
["Supplementarl Table S1: Exon-level Information in Category 1 Genes: Exons in the 38 Category 1 genes were divided into the three exon categories as defined in Figure 1C. Common LoF are variants pulled from gnomAD. B, LB, VUS, LP, and P variants were pulled from ClinVar. DM variants were pulled from HGMD. LoF, Loss of Function; B, Benign; VUS, Variant of uncertain significance; LP, likely pathogenic; P, Pathogenic; DM, Disease Mutation. Transcript numbers were taken from RefSeq Gene (https://www.ncbi.nlm.nih.gov/refseq/rsg/)."]