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{"sheet":"variants","index":0,"n_rows":293,"n_cols":13,"rows_kept":293}
["Gene","c.DNA","p.change","PP2 SCORE","PP2 PREDICTION","SIFT4G SCORE (VARSOME)","SIFT4G PREDICTION (VARSOME)","MT","Conservation","Conservation conclusion","Database classification","OUR CONCLUSION","DATABASE"]
["HNF1B","c.1006C>A ","(p.His336Asn)",0.425,"benign","0.441, 0.458, 0.423, 0.46, 0.443","tolerated ","disease causing","✽","yes","benign","predicted benign","ClinVar"]
["HNF1B","c.1006C>G","p.His336Asp",0.182,"B",0.575,"T","D","✽","yes","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.1055A>G ","(p.Tyr352Cys)",0.997,"probably damaging","0, 0.004, 0.002, 0.006, 0.005","damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.107C>T","p.Ser36Phe",0.452,"P",0.134,"T","N",null,"no, but similar","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.1108G>A","p.Gly370Ser",0.119,"B",1,"T","D","✽","yes","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.1117G>C","p.Ala373Pro",0.982,"D",0.254,"T","D","✽","yes","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.1120A>C","p.Met374Leu",0.945,"D",0.445,"T","D","✽","yes","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.1329T>G","p.Phe443Leu","can't find",null,0.644,"T","D","not found","not found","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.1474G>A","p.Gly492Ser",0.029,"B",0.122,"T","D",null,"no","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.1474G>A ","(p.Gly492Ser)",0.014,"benign","0.084, 0.131, 0.122","tolerated ","disease causing",null,"no","benign/likely benign","predicted benign","ClinVar"]
["HNF1B","c.1594A>G","p.Met532Val",0.977,"D",0.062,"T","D","✽","yes","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.1640C>T ","(p.Ser547Phe)",0.997,"probably damaging",2E-3,"damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.182T>G","p.Val61Gly",0.005,"B",0.32,"T","D",null,"no","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.226G>T","p.Gly76Cys",1,"D",0.009,"D","D","✽","yes","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.234G>C","p.Glu78Asp",0.997,"probably damaging ","0.03, 0.028, 0.029, 0.024","damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.244G>A","p.Asp82Asn",0.528,"P",0.015,"D","D","✽","yes","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.313G>A","p.Glu105Lys",0.996,"D",0.6,"T","D","✽","yes","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.329T>G","p.Val110Gly",0.972,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.374T>C","p.Ile125Thr",0.998,"probably damaging","0.002, 0.002, 0.002, 0.003, 0.003, 0.003","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.406C>G","p.Gln136Glu",0.996,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.412G>A","p.Glu138Lys",0.997,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.436A>G","p.Asn146Asp",0.999,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.441G>T","p.Gln147His",0.998,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.443C>G","p.Ser148Trp",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.443C>T","p.Ser148Leu",0.999,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.451T>C","p.Ser151Pro",0.998,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.452C>G","p.Ser151Cys",0.998,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.455A>G","p.Gln152Arg",0.993,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.457C>A","p.His153Asn",1,"probably damaging ",0,"damaging","disease causing","✽","yes","pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.460C>T","p.Leu154Phe",0.999,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.466A>G","p.Lys156Glu",1,"probably damaging ","0.002, 0.003","damaging","disease causing","✽","yes","pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.473C>A","p.Thr158Asn",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.476C>T","p.Pro159Leu",1,"probably damaging","0.001, 0.001, 0.001, 0.001, 0.002, 0.002","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.478A>G","p.Met160Val",0.999,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.493C>T","p.Arg165Cys",1,"probably damaging ",0,"damaging","disease causing","✽","yes","pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.494G>C","p.Arg165Pro",1,"probably damaging ",0,"damaging","disease causing","✽","yes","likely pathogenic, pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.505T>C","p.Tyr169His",1,"probably damaging ","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.511T>C","p.Trp171Arg",1,"probably damaging ","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","likely pathogenic, pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.513G>C","p.Trp171Cys",1,"probably damaging ",0,"damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.548T>C","p.Phe183Ser",0.635,"possibly damaging","0.015, 0.013, 0.021","damaging, damaging, damaging","disease causing","✽","yes","pathogenic","predicted benign","LOVD"]
["HNF1B","c.684C>G","p.Asn228Lys",1E-3,"B",0.509,"T","D",null,"no","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.684C>G ","(p.Asn228Lys)",0,"benign","0.502, 0.517, 0.621, 0.547, 0.371, 0.509","tolerated ","disease causing",".","no","benign/likely benign","predicted benign","ClinVar"]
["HNF1B","c.698G>A","p.Arg233His",0.999,"probably damaging ","0.003, 0.006, 0.004","damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.703C>T","p.Arg235Trp",1,"probably damaging ","0.001, 0","damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.712T>C","(p.Trp238Arg)",0.982,"probably damaging","0.006, 0.005, 0.006, 0.006, 0.007, 0.006","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.715G>C","(p.Gly239Arg)",0.966,"probably damaging","0.002, 0.002, 0.001, 0.001, 0.002, 0.001","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.728A>C","(p.Gln243Pro)",0.995,"probably damaging","0.028, 0.026, 0.025, 0.015, 0.025, 0.004","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.73G>T","p.Val25Leu",0.224,"B",0.328,"T","D",null,"no","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.755G>C","(p.Arg252Pro)",0.996,"probably damaging","0.008, 0.007, 0.007, 0.007, 0.009","damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.766C>T","(p.Pro256Ser)",0.734,"possibly damaging",0.098,"tolerated ","disease causing","✽","yes","likely pathogenic","predicted benign","ClinVar"]
["HNF1B","c.781A>G","p.Arg261Gly",0.99,"probably damaging ","0.002, 0.003, 0.004, 0.005","damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.791T>C","(p.Leu264Ser)",0.993,"probably damaging","0.001, 0.001, 0.001, 0.001, 0.001, 0.001","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.818G>A","(p.Cys273Tyr)",0.987,"probably damaging","0.002, 0.002, 0.002, 0, 0.002","damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.818G>C","(p.Cys273Ser)",0.997,"probably damaging","0.003, 0.003, 0.003, 0.005, 0.004","damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.826C>G","(p.Arg276Gly)",0.994,"probably damaging","0.003, 0.003, 0.003, 0.004, 0.004","damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.827G>A","(p.Arg276Gln)",0.773,"possibly damaging",0.082,"tolerated ","disease causing","✽","yes","pathogenic","predicted benign","ClinVar"]
["HNF1B","c.853G>A","(p.Gly285Ser)",0.983,"probably damaging","0.02, 0.018, 0.019, 0.017, 0.028","damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.854G>A","(p.Gly285Asp)",0.988,"probably damaging",0.023,"damaging","disease causing","✽","yes","pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.856C>G","(p.Leu286Val)",0.997,"probably damaging","0.005, 0.005, 0.005, 0.005, 0.006","damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.865A>G ","(p.Asn289Asp)",0.973,"probably damaging","0.016, 0.021, 0.013, 0.017","damaging","disease causing","✽","yes","pathogenic/likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.883C>T","(p.Arg295Cys)",1,"probably damaging","0.001, 0","damaging","disease causing","✽","yes","pathogenic/likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.884G>A","p.Arg295His",1,"probably damaging ","0.002, 0.005, 0.003","damaging","disease causing","✽","yes","pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.886G>T ","(p.Val296Phe)",0.951,"possibly damaging","0.002, 0.001","damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.910A>G ","(p.Arg304Gly)",1,"probably damaging","0.007, 0.008","damaging","disease causing","✽","yes","likely pathogenic/likely risk allele","predicted pathogenic","ClinVar"]
["HNF1B","c.940G>A ","(p.Ala314Thr)",0.997,"probably damaging","0.007, 0.008, 0.011, 0.012","damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.983C>T ","(p.Pro328Leu)",0,"benign","0.132, 0.135, 0.143, 0.151, 0.138","tolerated ","disease causing",null,"no","likely benign","predicted benign","ClinVar"]
["SALL1","c.1135G>T ","(p.Ala379Ser)",0.799,"possibly damaging","0.06, 0.054, 0.057","tolerated","disease causing","✽","Yes","likely benign","predicted benign","ClinVar"]
["SALL1","c.1199C>T ","(p.Ser400Leu)",0.031,"benign","0.084, 0.129, 0.051","tolerated","disease causing",null,"No","likely benign","predicted benign","ClinVar"]
["SALL1","c.1322C>A","p.Thr441Asn",1E-3,"B",0.21,"T","D",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.1327G>A ","(p.Asp443Asn)",0.956,"possibly damaging","0.006, 0.007, 0.005","damaging","disease causing","✽","Yes","benign","predicted pathogenic","ClinVar"]
["SALL1","c.1513C>A","p.His505Asn",0.997,"probably damaging","0.098, 0.137, 0.101","tolerated","disease causing","✽","Yes","pathogenic","predicted benign","LOVD"]
["SALL1","c.1565C>T","p.Thr522Met",0.997,"D",1E-3,"D","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.1565C>T ","(p.Thr522Met)",1,"probaby damaging",1E-3,"damaging","disease causing","✽","Yes","benign/likely benign","predicted pathogenic","ClinVar"]
["SALL1","c.1666G>A ","(p.Gly556Ser)",1,"probaby damaging","0.036, 0.021, 0.005","damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["SALL1","c.1878G>C","p.Glu626Asp",0,"B",0.268,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.1878G>C ","(p.Glu626Asp)",0,"benign","0.548, 0.577, 0.602","tolerated","polymorphism","✽","Yes","benign/likely benign","predicted benign","ClinVar"]
["SALL1","c.1903C>T","p.Pro635Ser",0,"B",0.649,"T","N",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.1903C>T ","(p.Pro635Ser)",0,"benign","0.516, 0.585, 0.528","tolerated","polymorphism",null,"No","benign/likely benign","predicted benign","ClinVar"]
["SALL1","c.1904C>T","p.Pro635Leu",0,"B",0.127,"T","D",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.1904C>T ","(p.Pro635Leu)",0,"benign","0.036, 0.033, 0.037","tolerated","polymorphism",null,"No","benign/likely benign","predicted benign","ClinVar"]
["SALL1","c.1966A>G","p.Thr656Ala",0,"benign","0.102, 0.089, 0.12","tolerated","polymorphism",null,"No","likely benign","predicted benign","LOVD"]
["SALL1","c.2008T>C","p.Phe670Leu",0.314,"B",0.233,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.2008T>C ","(p.Phe670Leu)",0.894,"possibly damaging","0.081, 0.086, 0.091","tolerated","disease causing","✽","Yes","benign","predicted benign","ClinVar"]
["SALL1","c.2105C>T ","(p.Ala702Val)",0.354,"benign","0.464, 0.525, 0.532","tolerated","disease causing","✽","Yes","likely benign","predicted benign","ClinVar"]
["SALL1","c.220G>A","p.Val74Ile",0.007,"B",0.093,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.235G>C","p.Ala79Pro",1E-3,"B",0.146,"T","N","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.2870C>G ","(p.Ala957Gly)",0.19,"benign","0.373, 0.378, 0.243","tolerated","disease causing","✽","Yes","likely benign","predicted benign","ClinVar"]
["SALL1","c.292A>G","p.Met98Val",0,"benign","0.571, 0.012","tolerated, damaging","disease causing","✽","Yes","benign","predicted benign","LOVD"]
["SALL1","c.3242T>C ","(p.Leu1081Ser)",0.988,"probaby damaging","0.119, 0.084","tolerated","disease causing","✽","Yes","likely benign","predicted benign","ClinVar"]
["SALL1","c.3310C>G","p.Pro1104Ala",0.018,"B",0.328,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.3310C>G ","(p.Pro1104Ala)",0.026,"benign","0.073, 0.071, 0.07","tolerated","disease causing","✽","Yes","benign/likely benign","predicted benign","ClinVar"]
["SALL1","c.3322G>A ","(p.Val1108Ile)",1E-3,"benign","0.231, 0.146, 0.149","tolerated","polymorphism",null,"No","likely benign","predicted benign","ClinVar"]
["SALL1","c.3322G>C","p.Val1108Leu",1E-3,"B",0.464,"T","D",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.3322G>C ","(p.Val1108Leu)",0,"benign","0.236, 0.23, 0.323","tolerated","polymorphism",null,"No","benign/likely benign","predicted benign","ClinVar"]
["SALL1","c.3326C>T ","(p.Pro1109Leu)",0.023,"benign","0.006, 0.004","damaging","disease causing",null,"No","likely pathogenic","predicted benign","ClinVar"]
["SALL1","c.3380C>T ","(p.Pro1127Leu)",0.165,"benign","0.057, 0.056, 0.067","tolerated","disease causing","✽","Yes","benign/likely benign","predicted benign","ClinVar"]
["SALL1","c.3665C>T ","(p.Ala1222Val)",0.976,"probaby damaging","0.325, 0.339, 0.341","tolerated","disease causing","✽","Yes","benign/likely benign","predicted benign","ClinVar"]
["SALL1","c.3794G>A","p.Gly1265Glu",0.873,"P",0.096,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.3794G>A ","(p.Gly1265Glu)",0.998,"probaby damaging",0.015,"damaging","disease causing","✽","Yes","benign/likely benign","predicted pathogenic","ClinVar"]
["SALL1","c.379G>C","p.Val127Leu",1E-3,"B",0.497,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.3823G>A","p.Val1275Ile",0,"B",0.482,"T","P",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.3823G>A ","(p.Val1275Ile)",0,"benign","0.841, 0.902","tolerated","polymorphism",null,"No","benign","predicted benign","ClinVar"]
["SALL1","c.3872A>G","p.Asn1291Ser",1E-3,"B",0.697,"T","D",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.3872A>G ","(p.Asn1291Ser)",0,"benign",1,"tolerated","polymorphism",null,"No","benign/likely benign","predicted benign","ClinVar"]
["SALL1","c.389C>T","p.Pro130Leu",1E-3,"B",0.021,"D","D",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.3963C>G ","(p.Ile1321Met)",0.997,"probaby damaging","0.005, 0.011","damaging","disease causing","✽","Yes","benign","predicted pathogenic","ClinVar"]
["SALL1","c.472A>G","p.Ser158Gly",0.007,"B",0.445,"T","N",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.475A>G","p.Ser159Gly",0.015,"B",0.449,"T","N",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.477C>A","p.Ser159Arg",0.162,"B",0.405,"T","N",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.478G>A","p.Gly160Ser",0,"B",0.746,"T","N",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.499A>G","p.Thr167Ala",0,"B",0.733,"T","D",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.548C>G","p.Thr183Arg",0.664,"possibly damaging","0.015, 0.07","damaging, tolerated","disease causing","✽","Yes","DM","predicted benign","HGMD"]
["SALL1","c.676G>A","p.Val226Ile",1E-3,"B",1,"T","D",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.809C>T","p.Pro270Leu",0.01,"B",0.322,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["EYA1","c.1051G>T ","(p.Asp351Tyr)",0.994,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["EYA1","c.107C>T","p.Thr36Ile",0.019,"B",0.049,"D","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["EYA1","c.1087G>A ","(p.Glu363Lys)",0.993,"probably damaging","0.001, 0","damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["EYA1","c.1088A>T","p.Glu363Val",0.991,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.121G>C","p.Glu41Gln",0.956,"D",0.536,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["EYA1","c.1276G>A","p.Gly426Ser",0.418,"B",0.008,"D","A","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["EYA1","c.1309C>T ","(p.Arg437Cys)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["EYA1","c.1319G>A ","(p.Arg440Gln)",1,"probably damaging","0.006, 0.007, 0.005, 0.004","damaging","disease causing","✽","Yes","pathogenic/likely pathogenic","predicted pathogenic","ClinVar"]
["EYA1","c.1448T>C ","(p.Leu483Pro)",1,"probably damaging","0.001, 0.002, 0.003","damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["EYA1","c.1459T>C ","(p.Ser487Pro)",0.214,"benign","0.093, 0.122, 0.115, 0.102, 0.1, 0.091","tolerated","disease causing",null,"No","pathogenic","predicted benign","ClinVar"]
["EYA1","c.1460C>T","p.Ser487Leu",0.038,"B",0.276,"T","D",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["EYA1","c.1475G>C","p.Arg492Pro",1,"probably damaging","0, 0.013, 0.007, 0.006, 0.011, 0.01","damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.1483T>A ","(p.Cys495Ser)",1,"probably damaging","0.079, 0.095, 0.099, 0.084, 0.077, 0.078","tolerated","disease causing","✽","Yes","likely pathogenic","predicted benign","ClinVar"]
["EYA1","c.1505C>G ","(p.Thr502Ser)",0.989,"probably damaging","0.148, 0.209, 0.195, 0.204, 0.133, 0.0134","tolerated","disease causing","✽","Yes","likely benign","predicted benign","ClinVar"]
["EYA1","c.1514T>G","p.Leu505Arg",0.998,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.1534G>T","p.Val512Phe",0.999,"probably damaging",1E-3,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.1537C>A ","(p.Leu513Met)",0.986,"probably damaging","0.046, 0.035, 0.054, 0.04, 0.037, 0.029","tolerated, damaging","disease causing","✽","Yes","likely pathogenic","predicted benign","ClinVar"]
["EYA1","c.1538T>C","p.Leu513Pro",1,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.1541T>C","p.Leu514Pro",1,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.1579T>A ","(p.Tyr527Asn)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["EYA1","c.1580A>G","p.Tyr527Cys",1,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.1597G>A","p.Gly533Arg",0.999,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.1597G>C ","(p.Gly533Arg)",0.999,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["EYA1","c.1639A>G ","(p.Arg547Gly)",1,"probably damaging","0.025, 0.002, 0.032, 0.024, 0.019, 0.018","damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["EYA1","c.1649T>A","p.Val550Glu",1,"probably damaging","0.01, 0.006, 0.007, 0.004","damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.164C>T","p.Thr55Met",0.657,"P",0.058,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["EYA1","c.1701C>A ","(p.His567Gln)",0.905,"possibly damaging","0.066, 0.076, 0.08, 0.071, 0.074","tolerated","disease causing","✽","Yes","likely benign","predicted benign","ClinVar"]
["EYA1","c.1706T>C","p.Met569Thr",0.6,"possibly damaging","0.002, 0.003","damaging","disease causing","✽","Yes","pathogenic","predicted benign","LOVD"]
["EYA1","c.1733C>T","p.Ser578Leu",0.984,"probably damaging","0.002, 0.002, 0.002, 0.002, 0.002, 0.002, 0.002","damaging, damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["EYA1","c.1739T>G ","(p.Leu580Arg)",0.999,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["EYA1","c.1748T>C ","(p.Leu583Pro)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["EYA1","c.283C>T","p.Pro95Ser",1,"probably damaging","0.019, 0.018, 0.006, 0.008, 0.02","damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.35G>A","p.Arg12His",0.706,"P",0.128,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["EYA1","c.403G>A","p.Gly135Ser",1,"probably damaging","0.364, 0.364, 0.318, 0.295, 0.354, 0.281, 0.354","tolerated, tolerated, tolerated, tolerated, tolerated, tolerated, tolerated","disease causing","✽","Yes","DM","predicted benign","HGMD"]
["EYA1","c.418G>A","p.Gly140Ser",0.987,"probably damaging","0.23, 0.305, 0.249, 0.243, 0.242, 0.299","tolerated","disease causing","✽","Yes","pathogenic","predicted benign","LOVD"]
["EYA1","c.58C>G ","(p.Pro20Ala)",0.167,"benign",0.011,"damaging","polymorphism","✽","Yes","benign","predicted benign","ClinVar"]
["EYA1","c.638A>T","p.Gln213Leu",0.997,"probably damaging","0.054, 0.62, 0.048, 0.056, 0.045, 0.064","tolerated, damaging","disease causing","✽","Yes","pathogenic","predicted benign","LOVD"]
["EYA1","c.639G>C","p.Gln213His",0.997,"probably damaging","0.009, 0.009, 0.012, 0.019, 0.011, 0.025, 0.009","damaging, damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["EYA1","c.640G>A ","(p.Asp214Asn)",0.527,"possibly damaging","0.002, 0.001","damaging","disease causing",null,"No","likely pathogenic","predicted benign","ClinVar"]
["EYA1","c.724A>G ","(p.Ser242Gly)",0.091,"benign","0.099, 0.058, 0.082, 0.085, 0.101, 0.089","tolerated","disease causing",null,"No","benign","predicted benign","ClinVar"]
["EYA1","c.743C>T ","(p.Thr248Met)",0.983,"probably damaging","0.058, 0.052, 0.019, 0.021, 0.02","tolerated, damaging","disease causing","✽","Yes","likely benign","predicted benign","ClinVar"]
["EYA1","c.782C>T ","(p.Pro261Leu)",1,"probably damaging","0.202, 0.201, 0.197, 0.2, 0.203","tolerated","disease causing","✽","Yes","benign","predicted benign","ClinVar"]
["EYA1","c.805G>A","p.Ala269Thr",0.999,"probably damaging","0.176, 0.168, 0.16, 0.161, 0.151, 0.192","tolerated","disease causing","✽","Yes","likely benign","predicted benign","LOVD"]
["EYA1","c.865G>T","p.Asp289Tyr",0.897,"P",0.019,"D","D",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["EYA1","c.884T>C","p.Leu295Ser",0.518,"P",0.751,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["EYA1","c.887G>A ","(p.Arg296His)",0.999,"probably damaging","0.241, 0.253, 0.247, 0.245, 0.248, 0.254","tolerated","disease causing","✽","Yes","benign","predicted benign","ClinVar"]
["EYA1","c.890G>A","p.Arg297Gln",0.592,"P",0.075,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["EYA1","c.923G>A ","(p.Arg308Gln)",0.999,"probably damaging","0.009, 0.01, 0.007, 0.008","damaging","disease causing","✽","Yes","benign/likely benign","predicted pathogenic","ClinVar"]
["EYA1","c.965A>G","p.Glu322Gly",0.998,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.977T>A","p.Ile326Asn",0.996,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.979T>C ","(p.Trp327Arg)",1,"probably damaging","0.001, 0","damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PBX1","c.187G>T ","(p.Ala63Ser)",0.553,"possibly damaging","0.048, 0.062, 0.055","tolerated, damaging","disease causing","✽","Yes","likely benign","predicted benign","ClinVar"]
["PBX1","c.197A>G","p.Tyr66Cys",0.051,"benign",2E-3,"damaging","D",null,null,"presumed benign","predicted benign","gnomAD allele count >30"]
["PBX1","c.319C>T","p.R107W",0.999,"probably damaging",0.03,"deleterious","benign","✽","yes","DM","predicted benign","HGMD"]
["PBX1","c.320G>A ","(p.Arg107Gln)",1,"probably damaging","0.001, 0","damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PBX1","c.320G>C ","(p.Arg107Pro)",1,"probably damaging","0.001, 0","damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PBX1","c.551G>C","p.R184P",0.995,"probably damaging",0,"deleterious","deleterious","✽","yes","DM","predicted pathogenic","HGMD"]
["PBX1","c.61G>A","p.Gly21Ser",0.025,"B",0.118,"T","P","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["PBX1","c.671T>A","p.M224K",0.906,"possibly damaging",0.04,"deleterious","deleterious","✽","yes","DM","predicted benign","HGMD"]
["PBX1","c.680G>C ","(p.Arg227Pro)",0.999,"probably damaging","0.001, 0","damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["PBX1","c.700C>T","p.R234W",1,"probably damaging",0.03,"deleterious","deleterious","✽","yes","DM","predicted pathogenic","HGMD"]
["PBX1","c.701G>A ","(p.Arg234Gln)",1,"probably damaging","0.001, 0","damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PBX1","c.701G>C ","(p.Arg234Pro)",1,"probably damaging","0.002, 0, 0.004","damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PBX1","c.703C>T ","(p.Arg235Trp)",0.598,"possibly damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted benign","ClinVar"]
["PBX1","c.704G>A ","(p.Arg235Gln)",0.996,"probably damaging","0.001, 0.002","damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["PBX1","c.704G>T","p.(Arg235Leu)",0.983,"probably damaging",1E-3,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["PBX1","c.758A>C ","(p.Tyr253Ser)",0.881,"possibly damaging","0.004, 0.003","damaging","disease causing","✽","Yes","likely pathogenic","predicted benign","ClinVar"]
["PBX1","c.760T>C ","(p.Ser254Pro)",0.997,"probably damaging",1E-3,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PBX1","c.817T>C ","(p.Cys273Arg)",0.431,"benign","0.002, 0.001","damaging","disease causing","✽","Yes","likely pathogenic","predicted benign","ClinVar"]
["PBX1","c.818G>A ","(p.Cys273Tyr)",0.998,"probably damaging","0.001, 0","damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PBX1","c.836A>G ","(p.Gln279Arg)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PBX1","c.868C>T ","(p.Arg290Trp)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["PBX1","c.92G>T ","(p.Gly31Val)",0.005,"benign","0.152, 0.212, 0.155, 0.104","tolerated","disease causing","✽","Yes","likely benign","predicted benign","ClinVar"]
["GATA3","c.1017C>G","p.Cys339Trp",1,"probably damaging (ensembl)","0, 0","damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["GATA3","c.1022C>T","p.Ala341Val",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.1025G>A","p.Cys342Tyr",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.1025G>A ","(p.Cys342Tyr)",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.1030C>T","p.Leu344Phe",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.1043T>G","p.Leu348Arg",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.1058G>C ","(p.Arg353Thr)",0.921,"probably damaging (ensembl)",1E-3,"damaging","disease causing","✽","Yes","likely pathogenic","predicted benign","ClinVar"]
["GATA3","c.1059A>T","p.Arg353Ser",0.992,"probably damaging (ensembl)",0.0011,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.1059A>T ","(p.Arg353Ser)",0.992,"probably damaging (ensembl)",1E-3,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.1186G>A","p.Ala396Thr",0.239,"B",0.081,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["GATA3","c.1186G>A ","(p.Ala396Thr)",0.236,"benign (ensembl)","0.128, 0.127","tolerated","disease causing","✽","Yes","benign/likely benign","predicted benign","ClinVar"]
["GATA3","c.1262C>T ","(p.Thr421Met)",0.979,"probably damaging",1E-3,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.724G>A","p.Gly242Ser",0.652,"P",0.186,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["GATA3","c.724G>A ","(p.Gly242Ser)",0.937,"possibly damaging","0.109, 0.111","tolerated","disease causing","✽","Yes","likely benign","predicted benign","ClinVar"]
["GATA3","c.766C>G","p.Arg256Gly",0.686,"possibly damaging","0.002, 0.001","damaging","disease causing","✽","Yes","pathogenic","predicted benign","LOVD"]
["GATA3","c.784A>G","p.Arg262Gly",0.911,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted benign","LOVD"]
["GATA3","c.790T>A","p.Cys264Ser",1,"probably damaging (ensembl)","0, 0","damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["GATA3","c.790T>A ","(p.Cys264Ser)",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.815C>T","p.Thr272Ile",0.998,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.815C>T ","(p.Thr272Ile)",0.998,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.823T>A","(p.Trp275Arg)",0.999,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.824G>T","p.Trp275Leu",0.99,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.826C>T ","(p.Arg276Trp)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.827G>A","p.Arg276Gln",1,"probably damaging","0, 0","damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["GATA3","c.827G>C","p.Arg276Pro",1,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.82C>A","p.His28Asn",0.966,"D",0.114,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["GATA3","c.832G>A","p.Asp278Asn",1,"probably damaging (ensembl)","0, 0","damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["GATA3","c.832G>A ","(p.Asp278Asn)",1,"probably damaging (ensembl)",0.009,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.851T>G","p.Leu284Arg",0.999,"probably damaging (ensembl)","0, 0","damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["GATA3","c.856A>G","p.Asn286Asp",0.895,"possibly damaging (ensembl)","0.008, 0.008","damaging, damaging","disease causing","✽","Yes","DM","predicted benign","HGMD"]
["GATA3","c.859G>A","p.Ala287Thr",0.895,"possibly damaging (ensembl)",1E-3,"damaging","disease causing","✽","Yes","likely pathogenic","predicted benign","LOVD"]
["GATA3","c.864C>G","p.Cys288Trp",1,"probably damaging (ensembl)","0, 0","damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["GATA3","c.864C>G ","(p.Cys288Trp)",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.865G>A","p.Gly289Arg",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.866G>A","p.Gly289Glu",0.999,"probably damaging (ensembl)","0, 0","damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["GATA3","c.881T>G","p.Met294Arg",0.965,"probably damaging (ensembl)","0.001, 0.001","damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["GATA3","c.889C>A","p.Gln297Lys",0.449,"possibly damaging (ensembl)",1E-3,"damaging","disease causing","✽","Yes","pathogenic","predicted benign","LOVD"]
["GATA3","c.895C>T ","(p.Arg299Trp)",0.999,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.896G>A","p.Arg299Gln",0.994,"probably damaging (ensembl)","0.017, 0.017","damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["GATA3","c.896G>A ","(p.Arg299Gln)",0.994,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.896G>T ","(p.Arg299Leu)",0.987,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.905T>C","p.Ile302Thr",0.994,"probably damaging (ensembl)","0, 0","damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["GATA3","c.952T>A","p.Cys318Ser",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.952T>C","p.Cys318Arg",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.953G>A","p.Cys318Tyr",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.959A>G ","(p.Asn320Ser)",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.960C>A","p.Asn320Lys",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.961T>A ","(p.Cys321Ser)",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.1001C>T","p.Ala334Val",0.371,"B",0.208,"T","D",null,null,"presumed benign","predicted benign","gnomAD allele count >30"]
["PAX2","c.1127A>C","p.Gln376Pro",0.983,"D",0.406,"T","D",null,null,"presumed benign","predicted benign","gnomAD allele count >30"]
["PAX2","c.113G>A","p.Arg38Lys",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.113G>A ","(p.Arg38Lys)",0.999,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.130C>G","p.Leu44Val",0.997,"probably damaging","0.002, 0.002, 0.002, 0.002, 0.001, 0.002","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.148C>T","p.Arg50Trp",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.148C>T ","(p.Arg50Trp)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.155G>A","p.Cys52Tyr",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.167G>A","p.Arg56Gln",1,"probably damaging",1E-3,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.167G>A ","(p.Arg56Gln)",1,"probably damaging",1E-3,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.175C>T","p.Arg59Trp",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.182G>A","p.Ser61Asn",0.982,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.182G>T","p.Ser61Ile",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.183C>A","p.Ser61Arg",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.187G>A","p.Gly63Ser",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic/pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.187G>A ","(p.Gly63Ser)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.206T>C","p.Leu69Pro",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.211A>G","p.Arg71Gly",0.999,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.212G>A","p.Arg71Lys",0.937,"possibly damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted benign","LOVD"]
["PAX2","c.212G>C","p.Arg71Thr",0.802,"possibly damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted benign","LOVD"]
["PAX2","c.212G>C ","(p.Arg71Thr)",0.802,"possibly damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted benign","ClinVar"]
["PAX2","c.224C>T ","(p.Thr75Ile)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.226G>A","p.Gly76Ser",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic/pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.226G>A ","(p.Gly76Ser)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.226G>C ","(p.Gly76Arg)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.239C>A ","(p.Pro80Gln)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.239C>T","p.Pro80Leu",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.239C>T ","(p.Pro80Leu)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic/likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.250G>A","p.Gly84Ser",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.250G>A ","(p.Gly84Ser)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.254G>T ","(p.Gly85Val)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.263C>T","p.Pro88Leu",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.275C>T ","(p.Thr92Met)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.350G>C","p.Arg117Pro",1,"probably damaging","0.001, 0","damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.388C>T ","(p.Pro130Ser)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.418C>T ","(p.Arg140Trp)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.419G>A ","(p.Arg140Gln)",1,"probably damaging","0.01, 0.008, 0.003","damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.419G>T ","(p.Arg140Leu)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.491C>A","p.Thr164Asn",0.996,"D",0.233,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["PAX2","c.565G>A ","(p.Gly189Arg)",0.991,"probably damaging","0.001, 0, 0.012","damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.5A>G","p.Asp2Gly",0.998,"probably damaging","0.001, 0.002, 0.004, 0.003","damaging","disease causing",null,"No","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.68T>C","p.Leu23Pro",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.70G>C","p.Gly24Arg",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.70G>T","p.Gly24Trp",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.70G>T ","(p.Gly24Trp)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.71G>A","p.Gly24Glu",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.71G>C","p.Gly24Ala",0.999,"probably damaging","0, 0, 0, 0, 0.007, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.71G>T","p.Gly24Val",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.728G>A ","(p.Arg243Gln)","not found",null,"0.159, 0.268, 0.174","tolerated","disease causing","✽","Yes","likely benign","predicted benign","ClinVar"]
["PAX2","c.74G>A","p.Gly25Glu",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.74G>T","p.Gly25Val",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.797G>A","p.Arg266Gln",0.988,"D",0.275,"T","D",null,null,"presumed benign","predicted benign","gnomAD allele count >30"]
["PAX2","c.88G>T","p.Gly30Cys",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.89G>T","p.Gly30Val",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.8G>C","p.Gly3Ala",".",".",0.192,"T","D",null,null,"presumed benign","predicted benign","gnomAD allele count >30"]
["PAX2","c.936C>G","p.Asn312Lys",0.117,"B",0.956,"T","D",null,null,"presumed benign","predicted benign","gnomAD allele count >30"]
["PAX2","c.98T>G","p.Leu33Arg",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]

{"sheet":"PAX2 calculations","index":1,"n_rows":85,"n_cols":22,"rows_kept":85}
["ClinVar"," +ve"," -ve",{"$nulls":3},"LOVD"," +ve"," -ve",{"$nulls":3},"HGMD"," +ve"," -ve",{"$nulls":3},"allele count >30"," +ve"," -ve"]
[" +ve",18,0,{"$f":"SUM(B2:C2)","v":18},null,null," +ve",17,0,{"$f":"SUM(H2:I2)","v":17},null,null," +ve",12,0,{"$f":"SUM(N2:O2)","v":12},null,null," +ve",0,0,{"$f":"SUM(T2:U2)","v":0}]
[" -ve",1,1,{"$f":"SUM(B3:C3)","v":2},null,null," -ve",2,3,{"$f":"SUM(H3:I3)","v":5},null,null," -ve",0,0,{"$f":"SUM(N3:O3)","v":0},null,null," -ve",0,6,{"$f":"SUM(T3:U3)","v":6}]
["total",19,1,20,null,null,"total",19,3,22,null,null,"total",12,0,12,null,null,"total",{"$f":"SUM(T2:T3)","v":0},{"$f":"SUM(U2:U3)","v":6},6]
[]
[null,"sensitivity",{"$f":"B2/B4*100","v":{"v":94.73684210526315,"d":"95"}},{"$nulls":4},"sensitivity",{"$f":"H2/H4*100","v":{"v":89.47368421052632,"d":"89"}},{"$nulls":4},"sensitivity",{"$f":"N2/N4*100","v":100},{"$nulls":4},"sensitivity",{"$f":"T2/T4*100","v":{"$error":"#DIV/0!"}}]
[null,"specificity",{"$f":"C3/C4*100","v":100},{"$nulls":4},"specificity",{"$f":"I3/I4*100","v":100},{"$nulls":4},"specificity",{"$f":"O3/O4*100","v":{"$error":"#DIV/0!"}},{"$nulls":4},"specificity",{"$f":"U3/U4*100","v":100}]
[null,"PPV",{"$f":"B2/D2*100","v":100},{"$nulls":4},"PPV",{"$f":"H2/J2*100","v":100},{"$nulls":4},"PPV",{"$f":"N2/P2*100","v":100},{"$nulls":4},"PPV",{"$f":"T2/V2*100","v":{"$error":"#DIV/0!"}}]
[null,"NPV",{"$f":"C3/D3*100","v":50},{"$nulls":4},"NPV",{"$f":"I3/J3*100","v":60},{"$nulls":4},"NPV",{"$f":"O3/P3*100","v":{"$error":"#DIV/0!"}},{"$nulls":4},"NPV",{"$f":"U3/V3*100","v":100}]
[]
[]
[{"$nulls":9},"All"," +ve"," -ve"]
[{"$nulls":9}," +ve",{"$f":"SUM(B2,H2,N2,T2)","v":47},0,{"$f":"SUM(K13:L13)","v":47}]
[{"$nulls":9}," -ve",3,10,{"$f":"SUM(K14:L14)","v":13}]
[{"$nulls":9},"total",50,10,60]
[]
[{"$nulls":10},"sensitivity",{"$f":"K13/K15*100","v":94}]
[{"$nulls":10},"specificity",{"$f":"L14/L15*100","v":100}]
[{"$nulls":10},"PPV",{"$f":"K13/M13*100","v":100}]
[{"$nulls":10},"NPV",{"$f":"L14/M14*100","v":{"v":76.92307692307693,"d":"77"}}]
[]
[]
["BENIGN VARIANTS"]
["Gene","c.DNA","p.change","PP2 SCORE","PP2 PREDICTION","SIFT4G SCORE (VARSOME)","SIFT4G PREDICTION (VARSOME)","MT","Conservation","Conservation conclusion","Database classification","OUR CONCLUSION","DATABASE"]
["PAX2","c.1001C>T","p.Ala334Val",0.371,"B",0.208,"T","D",null,null,"presumed benign","predicted benign","gnomAD allele count >30"]
["PAX2","c.1127A>C","p.Gln376Pro",0.983,"D",0.406,"T","D",null,null,"presumed benign","predicted benign","gnomAD allele count >30"]
["PAX2","c.491C>A","p.Thr164Asn",0.996,"D",0.233,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["PAX2","c.728G>A ","(p.Arg243Gln)","not found",null,"0.159, 0.268, 0.174","tolerated","disease causing","✽","Yes","likely benign","predicted benign","ClinVar"]
["PAX2","c.797G>A","p.Arg266Gln",0.988,"D",0.275,"T","D",null,null,"presumed benign","predicted benign","gnomAD allele count >30"]
["PAX2","c.8G>C","p.Gly3Ala",".",".",0.192,"T","D",null,null,"presumed benign","predicted benign","gnomAD allele count >30"]
["PAX2","c.936C>G","p.Asn312Lys",0.117,"B",0.956,"T","D",null,null,"presumed benign","predicted benign","gnomAD allele count >30"]
[]
[]
["PATHOGENIC VARIANTS"]
["Gene","c.DNA","p.change","PP2 SCORE","PP2 PREDICTION","SIFT4G SCORE (VARSOME)","SIFT4G PREDICTION (VARSOME)","MT","Conservation","Conservation conclusion","Database classification","OUR CONCLUSION","DATABASE"]
["PAX2","c.113G>A","p.Arg38Lys",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.113G>A ","(p.Arg38Lys)",0.999,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.130C>G","p.Leu44Val",0.997,"probably damaging","0.002, 0.002, 0.002, 0.002, 0.001, 0.002","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.148C>T","p.Arg50Trp",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.148C>T ","(p.Arg50Trp)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.155G>A","p.Cys52Tyr",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.167G>A","p.Arg56Gln",1,"probably damaging",1E-3,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.167G>A ","(p.Arg56Gln)",1,"probably damaging",1E-3,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.175C>T","p.Arg59Trp",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.182G>A","p.Ser61Asn",0.982,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.182G>T","p.Ser61Ile",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.183C>A","p.Ser61Arg",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.187G>A","p.Gly63Ser",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic/pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.187G>A ","(p.Gly63Ser)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.206T>C","p.Leu69Pro",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.211A>G","p.Arg71Gly",0.999,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.212G>A","p.Arg71Lys",0.937,"possibly damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted benign","LOVD"]
["PAX2","c.212G>C","p.Arg71Thr",0.802,"possibly damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted benign","LOVD"]
["PAX2","c.212G>C ","(p.Arg71Thr)",0.802,"possibly damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted benign","ClinVar"]
["PAX2","c.224C>T ","(p.Thr75Ile)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.226G>A","p.Gly76Ser",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic/pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.226G>A ","(p.Gly76Ser)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.226G>C ","(p.Gly76Arg)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.239C>A ","(p.Pro80Gln)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.239C>T","p.Pro80Leu",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.239C>T ","(p.Pro80Leu)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic/likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.250G>A","p.Gly84Ser",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.250G>A ","(p.Gly84Ser)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.254G>T ","(p.Gly85Val)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.263C>T","p.Pro88Leu",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.275C>T ","(p.Thr92Met)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.350G>C","p.Arg117Pro",1,"probably damaging","0.001, 0","damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.388C>T ","(p.Pro130Ser)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.418C>T ","(p.Arg140Trp)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.419G>A ","(p.Arg140Gln)",1,"probably damaging","0.01, 0.008, 0.003","damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.419G>T ","(p.Arg140Leu)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.565G>A ","(p.Gly189Arg)",0.991,"probably damaging","0.001, 0, 0.012","damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.5A>G","p.Asp2Gly",0.998,"probably damaging","0.001, 0.002, 0.004, 0.003","damaging","disease causing",null,"No","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.68T>C","p.Leu23Pro",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.70G>C","p.Gly24Arg",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.70G>T","p.Gly24Trp",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.70G>T ","(p.Gly24Trp)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PAX2","c.71G>A","p.Gly24Glu",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.71G>C","p.Gly24Ala",0.999,"probably damaging","0, 0, 0, 0, 0.007, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.71G>T","p.Gly24Val",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.74G>A","p.Gly25Glu",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.74G>T","p.Gly25Val",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["PAX2","c.88G>T","p.Gly30Cys",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.89G>T","p.Gly30Val",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["PAX2","c.98T>G","p.Leu33Arg",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]

{"sheet":"GATA3 calculations","index":2,"n_rows":76,"n_cols":22,"rows_kept":76}
["ClinVar"," +ve"," -ve",{"$nulls":3},"LOVD"," +ve"," -ve",{"$nulls":3},"HGMD"," +ve"," -ve",{"$nulls":3},"allele count >30"," +ve"," -ve"]
[" +ve",14,0,{"$f":"SUM(B2:C2)","v":14},null,null," +ve",13,0,{"$f":"SUM(H2:I2)","v":13},null,null," +ve",10,0,{"$f":"SUM(N2:O2)","v":10},null,null," +ve",0,0,{"$f":"SUM(T2:U2)","v":0}]
[" -ve",1,2,{"$f":"SUM(B3:C3)","v":3},null,null," -ve",4,0,{"$f":"SUM(H3:I3)","v":4},null,null," -ve",1,0,{"$f":"SUM(N3:O3)","v":1},null,null," -ve",0,3,{"$f":"SUM(T3:U3)","v":3}]
["total",15,2,17,null,null,"total",17,0,17,null,null,"total",{"$f":"SUM(N2:N3)","v":11},{"$f":"SUM(O2:O3)","v":0},11,null,null,"total",{"$f":"SUM(T2:T3)","v":0},{"$f":"SUM(U2:U3)","v":3},3]
[]
[null,"sensitivity",{"$f":"B2/B4*100","v":{"v":93.33333333333333,"d":"93"}},{"$nulls":4},"sensitivity",{"$f":"H2/H4*100","v":{"v":76.47058823529412,"d":"76"}},{"$nulls":4},"sensitivity",{"$f":"N2/N4*100","v":{"v":90.9090909090909,"d":"91"}},{"$nulls":4},"sensitivity",{"$f":"T2/T4*100","v":{"$error":"#DIV/0!"}}]
[null,"specificity",{"$f":"C3/C4*100","v":100},{"$nulls":4},"specificity",{"$f":"I3/I4*100","v":{"$error":"#DIV/0!"}},{"$nulls":4},"specificity",{"$f":"O3/O4*100","v":{"$error":"#DIV/0!"}},{"$nulls":4},"specificity",{"$f":"U3/U4*100","v":100}]
[null,"PPV",{"$f":"B2/D2*100","v":100},{"$nulls":4},"PPV",{"$f":"H2/J2*100","v":100},{"$nulls":4},"PPV",{"$f":"N2/P2*100","v":100},{"$nulls":4},"PPV",{"$f":"T2/V2*100","v":{"$error":"#DIV/0!"}}]
[null,"NPV",{"$f":"C3/D3*100","v":{"v":66.66666666666666,"d":"67"}},{"$nulls":4},"NPV",{"$f":"I3/J3*100","v":0},{"$nulls":4},"NPV",{"$f":"O3/P3*100","v":0},{"$nulls":4},"NPV",{"$f":"U3/V3*100","v":100}]
[]
[]
[{"$nulls":9},"All"," +ve"," -ve"]
[{"$nulls":9}," +ve",{"$f":"SUM(B2,H2,N2,T2)","v":37},0,{"$f":"SUM(K13:L13)","v":37}]
[{"$nulls":9}," -ve",6,5,{"$f":"SUM(K14:L14)","v":11}]
[{"$nulls":9},"total",43,5,48]
[]
[{"$nulls":10},"sensitivity",{"$f":"K13/K15*100","v":{"v":86.04651162790698,"d":"86"}}]
[{"$nulls":10},"specificity",{"$f":"L14/L15*100","v":100}]
[{"$nulls":10},"PPV",{"$f":"K13/M13*100","v":100}]
[{"$nulls":10},"NPV",{"$f":"L14/M14*100","v":{"v":45.45454545454545,"d":"45"}}]
[]
[]
["BENIGN VARIANTS"]
["Gene","c.DNA","p.change","PP2 SCORE","PP2 PREDICTION","SIFT4G SCORE (VARSOME)","SIFT4G PREDICTION (VARSOME)","MT","Conservation","Conservation conclusion","Database classification","OUR CONCLUSION","DATABASE"]
["GATA3","c.1186G>A","p.Ala396Thr",0.239,"B",0.081,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["GATA3","c.1186G>A ","(p.Ala396Thr)",0.236,"benign (ensembl)","0.128, 0.127","tolerated","disease causing","✽","Yes","benign/likely benign","predicted benign","ClinVar"]
["GATA3","c.724G>A","p.Gly242Ser",0.652,"P",0.186,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["GATA3","c.724G>A ","(p.Gly242Ser)",0.937,"possibly damaging","0.109, 0.111","tolerated","disease causing","✽","Yes","likely benign","predicted benign","ClinVar"]
["GATA3","c.82C>A","p.His28Asn",0.966,"D",0.114,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
[]
[]
["PATHOGENIC VARIANTS"]
["Gene","c.DNA","p.change","PP2 SCORE","PP2 PREDICTION","SIFT4G SCORE (VARSOME)","SIFT4G PREDICTION (VARSOME)","MT","Conservation","Conservation conclusion","Database classification","OUR CONCLUSION","DATABASE"]
["GATA3","c.1017C>G","p.Cys339Trp",1,"probably damaging (ensembl)","0, 0","damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["GATA3","c.1022C>T","p.Ala341Val",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.1025G>A","p.Cys342Tyr",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.1025G>A ","(p.Cys342Tyr)",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.1030C>T","p.Leu344Phe",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.1043T>G","p.Leu348Arg",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.1058G>C ","(p.Arg353Thr)",0.921,"probably damaging (ensembl)",1E-3,"damaging","disease causing","✽","Yes","likely pathogenic","predicted benign","ClinVar"]
["GATA3","c.1059A>T","p.Arg353Ser",0.992,"probably damaging (ensembl)",0.0011,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.1059A>T ","(p.Arg353Ser)",0.992,"probably damaging (ensembl)",1E-3,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.1262C>T ","(p.Thr421Met)",0.979,"probably damaging",1E-3,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.766C>G","p.Arg256Gly",0.686,"possibly damaging","0.002, 0.001","damaging","disease causing","✽","Yes","pathogenic","predicted benign","LOVD"]
["GATA3","c.784A>G","p.Arg262Gly",0.911,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted benign","LOVD"]
["GATA3","c.790T>A","p.Cys264Ser",1,"probably damaging (ensembl)","0, 0","damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["GATA3","c.790T>A ","(p.Cys264Ser)",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.815C>T","p.Thr272Ile",0.998,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.815C>T ","(p.Thr272Ile)",0.998,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.823T>A","(p.Trp275Arg)",0.999,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.824G>T","p.Trp275Leu",0.99,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.826C>T ","(p.Arg276Trp)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.827G>A","p.Arg276Gln",1,"probably damaging","0, 0","damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["GATA3","c.827G>C","p.Arg276Pro",1,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.832G>A","p.Asp278Asn",1,"probably damaging (ensembl)","0, 0","damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["GATA3","c.832G>A ","(p.Asp278Asn)",1,"probably damaging (ensembl)",0.009,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.851T>G","p.Leu284Arg",0.999,"probably damaging (ensembl)","0, 0","damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["GATA3","c.856A>G","p.Asn286Asp",0.895,"possibly damaging (ensembl)","0.008, 0.008","damaging, damaging","disease causing","✽","Yes","DM","predicted benign","HGMD"]
["GATA3","c.859G>A","p.Ala287Thr",0.895,"possibly damaging (ensembl)",1E-3,"damaging","disease causing","✽","Yes","likely pathogenic","predicted benign","LOVD"]
["GATA3","c.864C>G","p.Cys288Trp",1,"probably damaging (ensembl)","0, 0","damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["GATA3","c.864C>G ","(p.Cys288Trp)",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.865G>A","p.Gly289Arg",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.866G>A","p.Gly289Glu",0.999,"probably damaging (ensembl)","0, 0","damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["GATA3","c.881T>G","p.Met294Arg",0.965,"probably damaging (ensembl)","0.001, 0.001","damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["GATA3","c.889C>A","p.Gln297Lys",0.449,"possibly damaging (ensembl)",1E-3,"damaging","disease causing","✽","Yes","pathogenic","predicted benign","LOVD"]
["GATA3","c.895C>T ","(p.Arg299Trp)",0.999,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.896G>A","p.Arg299Gln",0.994,"probably damaging (ensembl)","0.017, 0.017","damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["GATA3","c.896G>A ","(p.Arg299Gln)",0.994,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.896G>T ","(p.Arg299Leu)",0.987,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.905T>C","p.Ile302Thr",0.994,"probably damaging (ensembl)","0, 0","damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["GATA3","c.952T>A","p.Cys318Ser",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.952T>C","p.Cys318Arg",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.953G>A","p.Cys318Tyr",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.959A>G ","(p.Asn320Ser)",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["GATA3","c.960C>A","p.Asn320Lys",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["GATA3","c.961T>A ","(p.Cys321Ser)",1,"probably damaging (ensembl)",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]

{"sheet":"PBX1 calculations","index":3,"n_rows":50,"n_cols":22,"rows_kept":50}
["ClinVar"," +ve"," -ve",{"$nulls":3},"LOVD"," +ve"," -ve",{"$nulls":3},"HGMD"," +ve"," -ve",{"$nulls":3},"allele count >30"," +ve"," -ve"]
[" +ve",10,0,{"$f":"SUM(B2:C2)","v":10},null,null," +ve",1,0,{"$f":"SUM(H2:I2)","v":1},null,null," +ve",2,0,{"$f":"SUM(N2:O2)","v":2},null,null," +ve",0,0,{"$f":"SUM(T2:U2)","v":0}]
[" -ve",3,2,{"$f":"SUM(B3:C3)","v":5},null,null," -ve",0,0,{"$f":"SUM(H3:I3)","v":0},null,null," -ve",2,0,{"$f":"SUM(N3:O3)","v":2},null,null," -ve",0,2,{"$f":"SUM(T3:U3)","v":2}]
["total",13,2,15,null,null,"total",1,0,1,null,null,"total",4,0,4,null,null,"total",{"$f":"SUM(T2:T3)","v":0},{"$f":"SUM(U2:U3)","v":2},2]
[]
[null,"sensitivity",{"$f":"B2/B4*100","v":{"v":76.92307692307693,"d":"77"}},{"$nulls":4},"sensitivity",{"$f":"H2/H4*100","v":100},{"$nulls":4},"sensitivity",{"$f":"N2/N4*100","v":50},{"$nulls":4},"sensitivity",{"$f":"T2/T4*100","v":{"$error":"#DIV/0!"}}]
[null,"specificity",{"$f":"C3/C4*100","v":100},{"$nulls":4},"specificity",{"$f":"I3/I4*100","v":{"$error":"#DIV/0!"}},{"$nulls":4},"specificity",{"$f":"O3/O4*100","v":{"$error":"#DIV/0!"}},{"$nulls":4},"specificity",{"$f":"U3/U4*100","v":100}]
[null,"PPV",{"$f":"B2/D2*100","v":100},{"$nulls":4},"PPV",{"$f":"H2/J2*100","v":100},{"$nulls":4},"PPV",{"$f":"N2/P2*100","v":100},{"$nulls":4},"PPV",{"$f":"T2/V2*100","v":{"$error":"#DIV/0!"}}]
[null,"NPV",{"$f":"C3/D3*100","v":40},{"$nulls":4},"NPV",{"$f":"I3/J3*100","v":{"$error":"#DIV/0!"}},{"$nulls":4},"NPV",{"$f":"O3/P3*100","v":0},{"$nulls":4},"NPV",{"$f":"U3/V3*100","v":100}]
[]
[]
[{"$nulls":9},"All"," +ve"," -ve"]
[{"$nulls":9}," +ve",{"$f":"SUM(B2,H2,N2,T2)","v":13},0,{"$f":"SUM(K13:L13)","v":13}]
[{"$nulls":9}," -ve",5,4,{"$f":"SUM(K14:L14)","v":9}]
[{"$nulls":9},"total",18,4,22]
[]
[{"$nulls":10},"sensitivity",{"$f":"K13/K15*100","v":{"v":72.22222222222221,"d":"72"}}]
[{"$nulls":10},"specificity",{"$f":"L14/L15*100","v":100}]
[{"$nulls":10},"PPV",{"$f":"K13/M13*100","v":100}]
[{"$nulls":10},"NPV",{"$f":"L14/M14*100","v":{"v":44.44444444444444,"d":"44"}}]
[]
[]
["BENIGN VARIANTS"]
["Gene","c.DNA","p.change","PP2 SCORE","PP2 PREDICTION","SIFT4G SCORE (VARSOME)","SIFT4G PREDICTION (VARSOME)","MT","Conservation","Conservation conclusion","Database classification","OUR CONCLUSION","DATABASE"]
["PBX1","c.187G>T ","(p.Ala63Ser)",0.553,"possibly damaging","0.048, 0.062, 0.055","tolerated, damaging","disease causing","✽","Yes","likely benign","predicted benign","ClinVar"]
["PBX1","c.197A>G","p.Tyr66Cys",0.051,"benign",2E-3,"damaging","D",null,null,"presumed benign","predicted benign","gnomAD allele count >30"]
["PBX1","c.61G>A","p.Gly21Ser",0.025,"B",0.118,"T","P","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["PBX1","c.92G>T ","(p.Gly31Val)",0.005,"benign","0.152, 0.212, 0.155, 0.104","tolerated","disease causing","✽","Yes","likely benign","predicted benign","ClinVar"]
[]
[]
["PATHOGENIC VARIANTS"]
["Gene","c.DNA","p.change","PP2 SCORE","PP2 PREDICTION","SIFT4G SCORE (VARSOME)","SIFT4G PREDICTION (VARSOME)","MT","Conservation","Conservation conclusion","Database classification","OUR CONCLUSION","DATABASE"]
["PBX1","c.319C>T","p.R107W",0.999,"probably damaging",0.03,"deleterious","benign","✽","yes","DM","predicted benign","HGMD"]
["PBX1","c.320G>A ","(p.Arg107Gln)",1,"probably damaging","0.001, 0","damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PBX1","c.320G>C ","(p.Arg107Pro)",1,"probably damaging","0.001, 0","damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PBX1","c.551G>C","p.R184P",0.995,"probably damaging",0,"deleterious","deleterious","✽","yes","DM","predicted pathogenic","HGMD"]
["PBX1","c.671T>A","p.M224K",0.906,"possibly damaging",0.04,"deleterious","deleterious","✽","yes","DM","predicted benign","HGMD"]
["PBX1","c.680G>C ","(p.Arg227Pro)",0.999,"probably damaging","0.001, 0","damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["PBX1","c.700C>T","p.R234W",1,"probably damaging",0.03,"deleterious","deleterious","✽","yes","DM","predicted pathogenic","HGMD"]
["PBX1","c.701G>A ","(p.Arg234Gln)",1,"probably damaging","0.001, 0","damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PBX1","c.701G>C ","(p.Arg234Pro)",1,"probably damaging","0.002, 0, 0.004","damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PBX1","c.703C>T ","(p.Arg235Trp)",0.598,"possibly damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted benign","ClinVar"]
["PBX1","c.704G>A ","(p.Arg235Gln)",0.996,"probably damaging","0.001, 0.002","damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["PBX1","c.704G>T","p.(Arg235Leu)",0.983,"probably damaging",1E-3,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["PBX1","c.758A>C ","(p.Tyr253Ser)",0.881,"possibly damaging","0.004, 0.003","damaging","disease causing","✽","Yes","likely pathogenic","predicted benign","ClinVar"]
["PBX1","c.760T>C ","(p.Ser254Pro)",0.997,"probably damaging",1E-3,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PBX1","c.817T>C ","(p.Cys273Arg)",0.431,"benign","0.002, 0.001","damaging","disease causing","✽","Yes","likely pathogenic","predicted benign","ClinVar"]
["PBX1","c.818G>A ","(p.Cys273Tyr)",0.998,"probably damaging","0.001, 0","damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PBX1","c.836A>G ","(p.Gln279Arg)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["PBX1","c.868C>T ","(p.Arg290Trp)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]

{"sheet":"EYA1 calculations","index":4,"n_rows":79,"n_cols":22,"rows_kept":79}
["ClinVar"," +ve"," -ve",{"$nulls":3},"LOVD"," +ve"," -ve",{"$nulls":3},"HGMD"," +ve"," -ve",{"$nulls":3},"allele count >30"," +ve"," -ve"]
[" +ve",11,1,{"$f":"SUM(B2:C2)","v":12},null,null," +ve",12,0,{"$f":"SUM(H2:I2)","v":12},null,null," +ve",2,0,{"$f":"SUM(N2:O2)","v":2},null,null," +ve",0,null,{"$f":"SUM(T2:U2)","v":0}]
[" -ve",4,7,{"$f":"SUM(B3:C3)","v":11},null,null," -ve",3,1,{"$f":"SUM(H3:I3)","v":4},null,null," -ve",1,0,{"$f":"SUM(N3:O3)","v":1},null,null," -ve",0,9,{"$f":"SUM(T3:U3)","v":9}]
["total",15,8,23,null,null,"total",15,1,16,null,null,"total",{"$f":"SUM(N2:N3)","v":3},{"$f":"SUM(O2:O3)","v":0},3,null,null,"total",{"$f":"SUM(T2:T3)","v":0},{"$f":"SUM(U2:U3)","v":9},9]
[]
[null,"sensitivity",{"$f":"B2/B4*100","v":{"v":73.33333333333333,"d":"73"}},{"$nulls":4},"sensitivity",{"$f":"H2/H4*100","v":80},{"$nulls":4},"sensitivity",{"$f":"N2/N4*100","v":{"v":66.66666666666666,"d":"67"}},{"$nulls":4},"sensitivity",{"$f":"T2/T4*100","v":{"$error":"#DIV/0!"}}]
[null,"specificity",{"$f":"C3/C4*100","v":{"v":87.5,"d":"88"}},{"$nulls":4},"specificity",{"$f":"I3/I4*100","v":100},{"$nulls":4},"specificity",{"$f":"O3/O4*100","v":{"$error":"#DIV/0!"}},{"$nulls":4},"specificity",{"$f":"U3/U4*100","v":100}]
[null,"PPV",{"$f":"B2/D2*100","v":{"v":91.66666666666666,"d":"92"}},{"$nulls":4},"PPV",{"$f":"H2/J2*100","v":100},{"$nulls":4},"PPV",{"$f":"N2/P2*100","v":100},{"$nulls":4},"PPV",{"$f":"T2/V2*100","v":{"$error":"#DIV/0!"}}]
[null,"NPV",{"$f":"C3/D3*100","v":{"v":63.63636363636363,"d":"64"}},{"$nulls":4},"NPV",{"$f":"I3/J3*100","v":25},{"$nulls":4},"NPV",{"$f":"O3/P3*100","v":0},{"$nulls":4},"NPV",{"$f":"U3/V3*100","v":100}]
[]
[]
[{"$nulls":9},"All"," +ve"," -ve"]
[{"$nulls":9}," +ve",{"$f":"SUM(B2,H2,N2,T2)","v":25},1,{"$f":"SUM(K13:L13)","v":26}]
[{"$nulls":9}," -ve",8,17,{"$f":"SUM(K14:L14)","v":25}]
[{"$nulls":9},"total",33,18,51]
[]
[{"$nulls":10},"sensitivity",{"$f":"K13/K15*100","v":{"v":75.75757575757575,"d":"76"}}]
[{"$nulls":10},"specificity",{"$f":"L14/L15*100","v":{"v":94.44444444444444,"d":"94"}}]
[{"$nulls":10},"PPV",{"$f":"K13/M13*100","v":{"v":96.15384615384616,"d":"96"}}]
[{"$nulls":10},"NPV",{"$f":"L14/M14*100","v":68}]
[]
[]
["BENIGN VARIANTS"]
["Gene","c.DNA","p.change","PP2 SCORE","PP2 PREDICTION","SIFT4G SCORE (VARSOME)","SIFT4G PREDICTION (VARSOME)","MT","Conservation","Conservation conclusion","Database classification","OUR CONCLUSION","DATABASE"]
["EYA1","c.107C>T","p.Thr36Ile",0.019,"B",0.049,"D","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["EYA1","c.121G>C","p.Glu41Gln",0.956,"D",0.536,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["EYA1","c.1276G>A","p.Gly426Ser",0.418,"B",0.008,"D","A","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["EYA1","c.1460C>T","p.Ser487Leu",0.038,"B",0.276,"T","D",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["EYA1","c.1505C>G ","(p.Thr502Ser)",0.989,"probably damaging","0.148, 0.209, 0.195, 0.204, 0.133, 0.0134","tolerated","disease causing","✽","Yes","likely benign","predicted benign","ClinVar"]
["EYA1","c.164C>T","p.Thr55Met",0.657,"P",0.058,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["EYA1","c.1701C>A ","(p.His567Gln)",0.905,"possibly damaging","0.066, 0.076, 0.08, 0.071, 0.074","tolerated","disease causing","✽","Yes","likely benign","predicted benign","ClinVar"]
["EYA1","c.35G>A","p.Arg12His",0.706,"P",0.128,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["EYA1","c.58C>G ","(p.Pro20Ala)",0.167,"benign",0.011,"damaging","polymorphism","✽","Yes","benign","predicted benign","ClinVar"]
["EYA1","c.724A>G ","(p.Ser242Gly)",0.091,"benign","0.099, 0.058, 0.082, 0.085, 0.101, 0.089","tolerated","disease causing",null,"No","benign","predicted benign","ClinVar"]
["EYA1","c.743C>T ","(p.Thr248Met)",0.983,"probably damaging","0.058, 0.052, 0.019, 0.021, 0.02","tolerated, damaging","disease causing","✽","Yes","likely benign","predicted benign","ClinVar"]
["EYA1","c.782C>T ","(p.Pro261Leu)",1,"probably damaging","0.202, 0.201, 0.197, 0.2, 0.203","tolerated","disease causing","✽","Yes","benign","predicted benign","ClinVar"]
["EYA1","c.805G>A","p.Ala269Thr",0.999,"probably damaging","0.176, 0.168, 0.16, 0.161, 0.151, 0.192","tolerated","disease causing","✽","Yes","likely benign","predicted benign","LOVD"]
["EYA1","c.865G>T","p.Asp289Tyr",0.897,"P",0.019,"D","D",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["EYA1","c.884T>C","p.Leu295Ser",0.518,"P",0.751,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["EYA1","c.887G>A ","(p.Arg296His)",0.999,"probably damaging","0.241, 0.253, 0.247, 0.245, 0.248, 0.254","tolerated","disease causing","✽","Yes","benign","predicted benign","ClinVar"]
["EYA1","c.890G>A","p.Arg297Gln",0.592,"P",0.075,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["EYA1","c.923G>A ","(p.Arg308Gln)",0.999,"probably damaging","0.009, 0.01, 0.007, 0.008","damaging","disease causing","✽","Yes","benign/likely benign","predicted pathogenic","ClinVar"]
[]
[]
["PATHOGENIC VARIANTS"]
["Gene","c.DNA","p.change","PP2 SCORE","PP2 PREDICTION","SIFT4G SCORE (VARSOME)","SIFT4G PREDICTION (VARSOME)","MT","Conservation","Conservation conclusion","Database classification","OUR CONCLUSION","DATABASE"]
["EYA1","c.1051G>T ","(p.Asp351Tyr)",0.994,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["EYA1","c.1087G>A ","(p.Glu363Lys)",0.993,"probably damaging","0.001, 0","damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["EYA1","c.1088A>T","p.Glu363Val",0.991,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.1309C>T ","(p.Arg437Cys)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["EYA1","c.1319G>A ","(p.Arg440Gln)",1,"probably damaging","0.006, 0.007, 0.005, 0.004","damaging","disease causing","✽","Yes","pathogenic/likely pathogenic","predicted pathogenic","ClinVar"]
["EYA1","c.1448T>C ","(p.Leu483Pro)",1,"probably damaging","0.001, 0.002, 0.003","damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["EYA1","c.1459T>C ","(p.Ser487Pro)",0.214,"benign","0.093, 0.122, 0.115, 0.102, 0.1, 0.091","tolerated","disease causing",null,"No","pathogenic","predicted benign","ClinVar"]
["EYA1","c.1475G>C","p.Arg492Pro",1,"probably damaging","0, 0.013, 0.007, 0.006, 0.011, 0.01","damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.1483T>A ","(p.Cys495Ser)",1,"probably damaging","0.079, 0.095, 0.099, 0.084, 0.077, 0.078","tolerated","disease causing","✽","Yes","likely pathogenic","predicted benign","ClinVar"]
["EYA1","c.1514T>G","p.Leu505Arg",0.998,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.1534G>T","p.Val512Phe",0.999,"probably damaging",1E-3,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.1537C>A ","(p.Leu513Met)",0.986,"probably damaging","0.046, 0.035, 0.054, 0.04, 0.037, 0.029","tolerated, damaging","disease causing","✽","Yes","likely pathogenic","predicted benign","ClinVar"]
["EYA1","c.1538T>C","p.Leu513Pro",1,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.1541T>C","p.Leu514Pro",1,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.1579T>A ","(p.Tyr527Asn)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["EYA1","c.1580A>G","p.Tyr527Cys",1,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.1597G>A","p.Gly533Arg",0.999,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.1597G>C ","(p.Gly533Arg)",0.999,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["EYA1","c.1639A>G ","(p.Arg547Gly)",1,"probably damaging","0.025, 0.002, 0.032, 0.024, 0.019, 0.018","damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","ClinVar"]
["EYA1","c.1649T>A","p.Val550Glu",1,"probably damaging","0.01, 0.006, 0.007, 0.004","damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.1706T>C","p.Met569Thr",0.6,"possibly damaging","0.002, 0.003","damaging","disease causing","✽","Yes","pathogenic","predicted benign","LOVD"]
["EYA1","c.1733C>T","p.Ser578Leu",0.984,"probably damaging","0.002, 0.002, 0.002, 0.002, 0.002, 0.002, 0.002","damaging, damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["EYA1","c.1739T>G ","(p.Leu580Arg)",0.999,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["EYA1","c.1748T>C ","(p.Leu583Pro)",1,"probably damaging",0,"damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["EYA1","c.283C>T","p.Pro95Ser",1,"probably damaging","0.019, 0.018, 0.006, 0.008, 0.02","damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.403G>A","p.Gly135Ser",1,"probably damaging","0.364, 0.364, 0.318, 0.295, 0.354, 0.281, 0.354","tolerated, tolerated, tolerated, tolerated, tolerated, tolerated, tolerated","disease causing","✽","Yes","DM","predicted benign","HGMD"]
["EYA1","c.418G>A","p.Gly140Ser",0.987,"probably damaging","0.23, 0.305, 0.249, 0.243, 0.242, 0.299","tolerated","disease causing","✽","Yes","pathogenic","predicted benign","LOVD"]
["EYA1","c.638A>T","p.Gln213Leu",0.997,"probably damaging","0.054, 0.62, 0.048, 0.056, 0.045, 0.064","tolerated, damaging","disease causing","✽","Yes","pathogenic","predicted benign","LOVD"]
["EYA1","c.639G>C","p.Gln213His",0.997,"probably damaging","0.009, 0.009, 0.012, 0.019, 0.011, 0.025, 0.009","damaging, damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","Yes","DM","predicted pathogenic","HGMD"]
["EYA1","c.640G>A ","(p.Asp214Asn)",0.527,"possibly damaging","0.002, 0.001","damaging","disease causing",null,"No","likely pathogenic","predicted benign","ClinVar"]
["EYA1","c.965A>G","p.Glu322Gly",0.998,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.977T>A","p.Ile326Asn",0.996,"probably damaging",0,"damaging","disease causing","✽","Yes","pathogenic","predicted pathogenic","LOVD"]
["EYA1","c.979T>C ","(p.Trp327Arg)",1,"probably damaging","0.001, 0","damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]

{"sheet":"SALL1 calculations","index":5,"n_rows":76,"n_cols":22,"rows_kept":76}
["ClinVar"," +ve"," -ve",{"$nulls":3},"LOVD"," +ve"," -ve",{"$nulls":3},"HGMD"," +ve"," -ve",{"$nulls":3},"allele count >30"," +ve"," -ve"]
[" +ve",1,4,{"$f":"SUM(B2:C2)","v":5},null,null," +ve",0,2,{"$f":"SUM(H2:I2)","v":2},null,null," +ve",null,0,{"$f":"SUM(N2:O2)","v":0},null,null," +ve",null,null,{"$f":"SUM(T2:U2)","v":0}]
[" -ve",1,16,{"$f":"SUM(B3:C3)","v":17},null,null," -ve",1,null,{"$f":"SUM(H3:I3)","v":1},null,null," -ve",1,0,{"$f":"SUM(N3:O3)","v":1},null,null," -ve",null,22,{"$f":"SUM(T3:U3)","v":22}]
["total",2,20,22,null,null,"total",1,2,3,null,null,"total",{"$f":"SUM(N2:N3)","v":1},0,1,null,null,"total",{"$f":"SUM(T2:T3)","v":0},{"$f":"SUM(U2:U3)","v":22},22]
[]
[null,"sensitivity",{"$f":"B2/B4*100","v":50},{"$nulls":4},"sensitivity",{"$f":"H2/H4*100","v":0},{"$nulls":4},"sensitivity",{"$f":"N2/N4*100","v":0},{"$nulls":4},"sensitivity",{"$f":"T2/T4*100","v":{"$error":"#DIV/0!"}}]
[null,"specificity",{"$f":"C3/C4*100","v":80},{"$nulls":4},"specificity",{"$f":"I3/I4*100","v":0},{"$nulls":4},"specificity",{"$f":"O3/O4*100","v":{"$error":"#DIV/0!"}},{"$nulls":4},"specificity",{"$f":"U3/U4*100","v":100}]
[null,"PPV",{"$f":"B2/D2*100","v":20},{"$nulls":4},"PPV",{"$f":"H2/J2*100","v":0},{"$nulls":4},"PPV",{"$f":"N2/P2*100","v":{"$error":"#DIV/0!"}},{"$nulls":4},"PPV",{"$f":"T2/V2*100","v":{"$error":"#DIV/0!"}}]
[null,"NPV",{"$f":"C3/D3*100","v":{"v":94.11764705882352,"d":"94"}},{"$nulls":4},"NPV",{"$f":"I3/J3*100","v":0},{"$nulls":4},"NPV",{"$f":"O3/P3*100","v":0},{"$nulls":4},"NPV",{"$f":"U3/V3*100","v":100}]
[]
[]
[{"$nulls":9},"All"," +ve"," -ve"]
[{"$nulls":9}," +ve",{"$f":"SUM(B2,H2,N2,T2)","v":1},6,{"$f":"SUM(K13:L13)","v":7}]
[{"$nulls":9}," -ve",3,38,{"$f":"SUM(K14:L14)","v":41}]
[{"$nulls":9},"total",4,44,48]
[]
[{"$nulls":10},"sensitivity",{"$f":"K13/K15*100","v":25}]
[{"$nulls":10},"specificity",{"$f":"L14/L15*100","v":{"v":86.36363636363636,"d":"86"}}]
[{"$nulls":10},"PPV",{"$f":"K13/M13*100","v":{"v":14.285714285714285,"d":"14"}}]
[{"$nulls":10},"NPV",{"$f":"L14/M14*100","v":{"v":92.6829268292683,"d":"93"}}]
[]
[]
["BENIGN VARIANTS"]
["Gene","c.DNA","p.change","PP2 SCORE","PP2 PREDICTION","SIFT4G SCORE (VARSOME)","SIFT4G PREDICTION (VARSOME)","MT","Conservation","Conservation conclusion","Database classification","OUR CONCLUSION","DATABASE"]
["SALL1","c.1135G>T ","(p.Ala379Ser)",0.799,"possibly damaging","0.06, 0.054, 0.057","tolerated","disease causing","✽","Yes","likely benign","predicted benign","ClinVar"]
["SALL1","c.1199C>T ","(p.Ser400Leu)",0.031,"benign","0.084, 0.129, 0.051","tolerated","disease causing",null,"No","likely benign","predicted benign","ClinVar"]
["SALL1","c.1322C>A","p.Thr441Asn",1E-3,"B",0.21,"T","D",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.1327G>A ","(p.Asp443Asn)",0.956,"possibly damaging","0.006, 0.007, 0.005","damaging","disease causing","✽","Yes","benign","predicted pathogenic","ClinVar"]
["SALL1","c.1565C>T","p.Thr522Met",0.997,"D",1E-3,"D","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.1565C>T ","(p.Thr522Met)",1,"probaby damaging",1E-3,"damaging","disease causing","✽","Yes","benign/likely benign","predicted pathogenic","ClinVar"]
["SALL1","c.1878G>C","p.Glu626Asp",0,"B",0.268,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.1878G>C ","(p.Glu626Asp)",0,"benign","0.548, 0.577, 0.602","tolerated","polymorphism","✽","Yes","benign/likely benign","predicted benign","ClinVar"]
["SALL1","c.1903C>T","p.Pro635Ser",0,"B",0.649,"T","N",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.1903C>T ","(p.Pro635Ser)",0,"benign","0.516, 0.585, 0.528","tolerated","polymorphism",null,"No","benign/likely benign","predicted benign","ClinVar"]
["SALL1","c.1904C>T","p.Pro635Leu",0,"B",0.127,"T","D",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.1904C>T ","(p.Pro635Leu)",0,"benign","0.036, 0.033, 0.037","tolerated","polymorphism",null,"No","benign/likely benign","predicted benign","ClinVar"]
["SALL1","c.1966A>G","p.Thr656Ala",0,"benign","0.102, 0.089, 0.12","tolerated","polymorphism",null,"No","likely benign","predicted benign","LOVD"]
["SALL1","c.2008T>C","p.Phe670Leu",0.314,"B",0.233,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.2008T>C ","(p.Phe670Leu)",0.894,"possibly damaging","0.081, 0.086, 0.091","tolerated","disease causing","✽","Yes","benign","predicted benign","ClinVar"]
["SALL1","c.2105C>T ","(p.Ala702Val)",0.354,"benign","0.464, 0.525, 0.532","tolerated","disease causing","✽","Yes","likely benign","predicted benign","ClinVar"]
["SALL1","c.220G>A","p.Val74Ile",0.007,"B",0.093,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.235G>C","p.Ala79Pro",1E-3,"B",0.146,"T","N","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.2870C>G ","(p.Ala957Gly)",0.19,"benign","0.373, 0.378, 0.243","tolerated","disease causing","✽","Yes","likely benign","predicted benign","ClinVar"]
["SALL1","c.292A>G","p.Met98Val",0,"benign","0.571, 0.012","tolerated, damaging","disease causing","✽","Yes","benign","predicted benign","LOVD"]
["SALL1","c.3242T>C ","(p.Leu1081Ser)",0.988,"probaby damaging","0.119, 0.084","tolerated","disease causing","✽","Yes","likely benign","predicted benign","ClinVar"]
["SALL1","c.3310C>G","p.Pro1104Ala",0.018,"B",0.328,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.3310C>G ","(p.Pro1104Ala)",0.026,"benign","0.073, 0.071, 0.07","tolerated","disease causing","✽","Yes","benign/likely benign","predicted benign","ClinVar"]
["SALL1","c.3322G>A ","(p.Val1108Ile)",1E-3,"benign","0.231, 0.146, 0.149","tolerated","polymorphism",null,"No","likely benign","predicted benign","ClinVar"]
["SALL1","c.3322G>C","p.Val1108Leu",1E-3,"B",0.464,"T","D",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.3322G>C ","(p.Val1108Leu)",0,"benign","0.236, 0.23, 0.323","tolerated","polymorphism",null,"No","benign/likely benign","predicted benign","ClinVar"]
["SALL1","c.3380C>T ","(p.Pro1127Leu)",0.165,"benign","0.057, 0.056, 0.067","tolerated","disease causing","✽","Yes","benign/likely benign","predicted benign","ClinVar"]
["SALL1","c.3665C>T ","(p.Ala1222Val)",0.976,"probaby damaging","0.325, 0.339, 0.341","tolerated","disease causing","✽","Yes","benign/likely benign","predicted benign","ClinVar"]
["SALL1","c.3794G>A","p.Gly1265Glu",0.873,"P",0.096,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.3794G>A ","(p.Gly1265Glu)",0.998,"probaby damaging",0.015,"damaging","disease causing","✽","Yes","benign/likely benign","predicted pathogenic","ClinVar"]
["SALL1","c.379G>C","p.Val127Leu",1E-3,"B",0.497,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.3823G>A","p.Val1275Ile",0,"B",0.482,"T","P",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.3823G>A ","(p.Val1275Ile)",0,"benign","0.841, 0.902","tolerated","polymorphism",null,"No","benign","predicted benign","ClinVar"]
["SALL1","c.3872A>G","p.Asn1291Ser",1E-3,"B",0.697,"T","D",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.3872A>G ","(p.Asn1291Ser)",0,"benign",1,"tolerated","polymorphism",null,"No","benign/likely benign","predicted benign","ClinVar"]
["SALL1","c.389C>T","p.Pro130Leu",1E-3,"B",0.021,"D","D",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.3963C>G ","(p.Ile1321Met)",0.997,"probaby damaging","0.005, 0.011","damaging","disease causing","✽","Yes","benign","predicted pathogenic","ClinVar"]
["SALL1","c.472A>G","p.Ser158Gly",0.007,"B",0.445,"T","N",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.475A>G","p.Ser159Gly",0.015,"B",0.449,"T","N",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.477C>A","p.Ser159Arg",0.162,"B",0.405,"T","N",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.478G>A","p.Gly160Ser",0,"B",0.746,"T","N",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.499A>G","p.Thr167Ala",0,"B",0.733,"T","D",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.676G>A","p.Val226Ile",1E-3,"B",1,"T","D",null,"No","presumed benign","predicted benign","gnomAD allele count >30"]
["SALL1","c.809C>T","p.Pro270Leu",0.01,"B",0.322,"T","D","✽","Yes","presumed benign","predicted benign","gnomAD allele count >30"]
[]
[]
["PATHOGENIC VARIANTS"]
["Gene","c.DNA","p.change","PP2 SCORE","PP2 PREDICTION","SIFT4G SCORE (VARSOME)","SIFT4G PREDICTION (VARSOME)","MT","Conservation","Conservation conclusion","Database classification","OUR CONCLUSION","DATABASE"]
["SALL1","c.1513C>A","p.His505Asn",0.997,"probably damaging","0.098, 0.137, 0.101","tolerated","disease causing","✽","Yes","pathogenic","predicted benign","LOVD"]
["SALL1","c.1666G>A ","(p.Gly556Ser)",1,"probaby damaging","0.036, 0.021, 0.005","damaging","disease causing","✽","Yes","likely pathogenic","predicted pathogenic","ClinVar"]
["SALL1","c.3326C>T ","(p.Pro1109Leu)",0.023,"benign","0.006, 0.004","damaging","disease causing",null,"No","likely pathogenic","predicted benign","ClinVar"]
["SALL1","c.548C>G","p.Thr183Arg",0.664,"possibly damaging","0.015, 0.07","damaging, tolerated","disease causing","✽","Yes","DM","predicted benign","HGMD"]

{"sheet":"HNF1B calculations","index":6,"n_rows":94,"n_cols":22,"rows_kept":94}
["ClinVar"," +ve"," -ve",{"$nulls":3},"LOVD"," +ve"," -ve",{"$nulls":3},"HGMD"," +ve"," -ve",{"$nulls":3},"allele count >30"," +ve"," -ve"]
[" +ve",18,0,{"$f":"SUM(B2:C2)","v":18},null,null," +ve",12,null,{"$f":"SUM(H2:I2)","v":12},null,null," +ve",15,0,{"$f":"SUM(N2:O2)","v":15},null,null," +ve",null,null,{"$f":"SUM(T2:U2)","v":0}]
[" -ve",2,4,{"$f":"SUM(B3:C3)","v":6},null,null," -ve",1,null,{"$f":"SUM(H3:I3)","v":1},null,null," -ve",0,0,{"$f":"SUM(N3:O3)","v":0},null,null," -ve",null,14,{"$f":"SUM(T3:U3)","v":14}]
["total",{"$f":"SUM(B2:B3)","v":20},{"$f":"SUM(C2:C3)","v":4},24,null,null,"total",{"$f":"SUM(H2:H3)","v":13},{"$f":"SUM(I2:I3)","v":0},13,null,null,"total",{"$f":"SUM(N2:N3)","v":15},{"$f":"SUM(O2:O3)","v":0},15,null,null,"total",{"$f":"SUM(T2:T3)","v":0},{"$f":"SUM(U2:U3)","v":14},14]
[]
[null,"sensitivity",{"$f":"B2/B4*100","v":90},{"$nulls":4},"sensitivity",{"$f":"H2/H4*100","v":{"v":92.3076923076923,"d":"92"}},{"$nulls":4},"sensitivity",{"$f":"N2/N4*100","v":100},{"$nulls":4},"sensitivity",{"$f":"T2/T4*100","v":{"$error":"#DIV/0!"}}]
[null,"specificity",{"$f":"C3/C4*100","v":100},{"$nulls":4},"specificity",{"$f":"I3/I4*100","v":{"$error":"#DIV/0!"}},{"$nulls":4},"specificity",{"$f":"O3/O4*100","v":{"$error":"#DIV/0!"}},{"$nulls":4},"specificity",{"$f":"U3/U4*100","v":100}]
[null,"PPV",{"$f":"B2/D2*100","v":100},{"$nulls":4},"PPV",{"$f":"H2/J2*100","v":100},{"$nulls":4},"PPV",{"$f":"N2/P2*100","v":100},{"$nulls":4},"PPV",{"$f":"T2/V2*100","v":{"$error":"#DIV/0!"}}]
[null,"NPV",{"$f":"C3/D3*100","v":{"v":66.66666666666666,"d":"67"}},{"$nulls":4},"NPV",{"$f":"I3/J3*100","v":0},{"$nulls":4},"NPV",{"$f":"O3/P3*100","v":{"$error":"#DIV/0!"}},{"$nulls":4},"NPV",{"$f":"U3/V3*100","v":100}]
[]
[]
[{"$nulls":9},"All"," +ve"," -ve"]
[{"$nulls":9}," +ve",{"$f":"SUM(B2,H2,N2,T2)","v":45},0,{"$f":"SUM(K13:L13)","v":45}]
[{"$nulls":9}," -ve",3,18,{"$f":"SUM(K14:L14)","v":21}]
[{"$nulls":9},"total",48,18,66]
[]
[{"$nulls":10},"sensitivity",{"$f":"K13/K15*100","v":{"v":93.75,"d":"94"}}]
[{"$nulls":10},"specificity",{"$f":"L14/L15*100","v":100}]
[{"$nulls":10},"PPV",{"$f":"K13/M13*100","v":100}]
[{"$nulls":10},"NPV",{"$f":"L14/M14*100","v":{"v":85.71428571428571,"d":"86"}}]
[]
[]
["BENIGN VARIANTS"]
["Gene","c.DNA","p.change","PP2 SCORE","PP2 PREDICTION","SIFT4G SCORE (VARSOME)","SIFT4G PREDICTION (VARSOME)","MT","Conservation","Conservation conclusion","Database classification","OUR CONCLUSION","DATABASE"]
["HNF1B","c.1006C>A ","(p.His336Asn)",0.425,"benign","0.441, 0.458, 0.423, 0.46, 0.443","tolerated ","disease causing","✽","yes","benign","predicted benign","ClinVar"]
["HNF1B","c.1006C>G","p.His336Asp",0.182,"B",0.575,"T","D","✽","yes","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.107C>T","p.Ser36Phe",0.452,"P",0.134,"T","N",null,"no, but similar","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.1108G>A","p.Gly370Ser",0.119,"B",1,"T","D","✽","yes","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.1117G>C","p.Ala373Pro",0.982,"D",0.254,"T","D","✽","yes","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.1120A>C","p.Met374Leu",0.945,"D",0.445,"T","D","✽","yes","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.1329T>G","p.Phe443Leu","can't find",null,0.644,"T","D","not found","not found",null,null,"gnomAD allele count >30"]
["HNF1B","c.1474G>A","p.Gly492Ser",0.029,"B",0.122,"T","D",null,"no","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.1474G>A ","(p.Gly492Ser)",0.014,"benign","0.084, 0.131, 0.122","tolerated ","disease causing",null,"no","benign/likely benign","predicted benign","ClinVar"]
["HNF1B","c.1594A>G","p.Met532Val",0.977,"D",0.062,"T","D","✽","yes","presumed benign","predicted benign","gnomAD allele count >30",{"$nulls":3},"16/17"]
["HNF1B","c.182T>G","p.Val61Gly",0.005,"B",0.32,"T","D",null,"no","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.226G>T","p.Gly76Cys",1,"D",0.009,"D","D","✽","yes","presumed benign","Predicted Pathogenic ","gnomAD allele count >30"]
["HNF1B","c.244G>A","p.Asp82Asn",0.528,"P",0.015,"D","D","✽","yes","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.313G>A","p.Glu105Lys",0.996,"D",0.6,"T","D","✽","yes","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.684C>G","p.Asn228Lys",1E-3,"B",0.509,"T","D",null,"no","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.684C>G ","(p.Asn228Lys)",0,"benign","0.502, 0.517, 0.621, 0.547, 0.371, 0.509","tolerated ","disease causing",".","no","benign/likely benign","predicted benign","ClinVar"]
["HNF1B","c.73G>T","p.Val25Leu",0.224,"B",0.328,"T","D",null,"no","presumed benign","predicted benign","gnomAD allele count >30"]
["HNF1B","c.983C>T ","(p.Pro328Leu)",0,"benign","0.132, 0.135, 0.143, 0.151, 0.138","tolerated ","disease causing",null,"no","likely benign","predicted benign","ClinVar"]
[]
[]
["PATHOGENIC VARIANTS"]
["Gene","c.DNA","p.change","PP2 SCORE","PP2 PREDICTION","SIFT4G SCORE (VARSOME)","SIFT4G PREDICTION (VARSOME)","MT","Conservation","Conservation conclusion","Database classification","OUR CONCLUSION","DATABASE"]
["HNF1B","c.1055A>G ","(p.Tyr352Cys)",0.997,"probably damaging","0, 0.004, 0.002, 0.006, 0.005","damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.1640C>T ","(p.Ser547Phe)",0.997,"probably damaging",2E-3,"damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.234G>C","p.Glu78Asp",0.997,"probably damaging ","0.03, 0.028, 0.029, 0.024","damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.329T>G","p.Val110Gly",0.972,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.374T>C","p.Ile125Thr",0.998,"probably damaging","0.002, 0.002, 0.002, 0.003, 0.003, 0.003","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.406C>G","p.Gln136Glu",0.996,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.412G>A","p.Glu138Lys",0.997,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.436A>G","p.Asn146Asp",0.999,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.441G>T","p.Gln147His",0.998,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.443C>G","p.Ser148Trp",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.443C>T","p.Ser148Leu",0.999,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.451T>C","p.Ser151Pro",0.998,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.452C>G","p.Ser151Cys",0.998,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.455A>G","p.Gln152Arg",0.993,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.457C>A","p.His153Asn",1,"probably damaging ",0,"damaging","disease causing","✽","yes","pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.460C>T","p.Leu154Phe",0.999,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.466A>G","p.Lys156Glu",1,"probably damaging ","0.002, 0.003","damaging","disease causing","✽","yes","pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.473C>A","p.Thr158Asn",1,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.476C>T","p.Pro159Leu",1,"probably damaging","0.001, 0.001, 0.001, 0.001, 0.002, 0.002","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.478A>G","p.Met160Val",0.999,"probably damaging","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","DM","predicted pathogenic","HGMD"]
["HNF1B","c.493C>T","p.Arg165Cys",1,"probably damaging ",0,"damaging","disease causing","✽","yes","pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.494G>C","p.Arg165Pro",1,"probably damaging ",0,"damaging","disease causing","✽","yes","likely pathogenic, pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.505T>C","p.Tyr169His",1,"probably damaging ","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.511T>C","p.Trp171Arg",1,"probably damaging ","0, 0, 0, 0, 0, 0","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","likely pathogenic, pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.513G>C","p.Trp171Cys",1,"probably damaging ",0,"damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.548T>C","p.Phe183Ser",0.635,"possibly damaging","0.015, 0.013, 0.021","damaging, damaging, damaging","disease causing","✽","yes","pathogenic","predicted benign","LOVD"]
["HNF1B","c.698G>A","p.Arg233His",0.999,"probably damaging ","0.003, 0.006, 0.004","damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.703C>T","p.Arg235Trp",1,"probably damaging ","0.001, 0","damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.712T>C","(p.Trp238Arg)",0.982,"probably damaging","0.006, 0.005, 0.006, 0.006, 0.007, 0.006","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar",null,"Bottom 23"]
["HNF1B","c.715G>C","(p.Gly239Arg)",0.966,"probably damaging","0.002, 0.002, 0.001, 0.001, 0.002, 0.001","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.728A>C","(p.Gln243Pro)",0.995,"probably damaging","0.028, 0.026, 0.025, 0.015, 0.025, 0.004","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar",null,"19/23"]
["HNF1B","c.755G>C","(p.Arg252Pro)",0.996,"probably damaging","0.008, 0.007, 0.007, 0.007, 0.009","damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.766C>T","(p.Pro256Ser)",0.734,"possibly damaging",0.098,"tolerated ","disease causing","✽","yes","likely pathogenic","predicted benign","ClinVar"]
["HNF1B","c.781A>G","p.Arg261Gly",0.99,"probably damaging ","0.002, 0.003, 0.004, 0.005","damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.791T>C","(p.Leu264Ser)",0.993,"probably damaging","0.001, 0.001, 0.001, 0.001, 0.001, 0.001","damaging, damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.818G>A","(p.Cys273Tyr)",0.987,"probably damaging","0.002, 0.002, 0.002, 0, 0.002","damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.818G>C","(p.Cys273Ser)",0.997,"probably damaging","0.003, 0.003, 0.003, 0.005, 0.004","damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.826C>G","(p.Arg276Gly)",0.994,"probably damaging","0.003, 0.003, 0.003, 0.004, 0.004","damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.827G>A","(p.Arg276Gln)",0.773,"possibly damaging",0.082,"tolerated ","disease causing","✽","yes","pathogenic","predicted benign","ClinVar"]
["HNF1B","c.853G>A","(p.Gly285Ser)",0.983,"probably damaging","0.02, 0.018, 0.019, 0.017, 0.028","damaging, damaging, damaging, damaging, damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.854G>A","(p.Gly285Asp)",0.988,"probably damaging",0.023,"damaging","disease causing","✽","yes","pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.856C>G","(p.Leu286Val)",0.997,"probably damaging","0.005, 0.005, 0.005, 0.005, 0.006","damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.865A>G ","(p.Asn289Asp)",0.973,"probably damaging","0.016, 0.021, 0.013, 0.017","damaging","disease causing","✽","yes","pathogenic/likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.883C>T","(p.Arg295Cys)",1,"probably damaging","0.001, 0","damaging","disease causing","✽","yes","pathogenic/likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.884G>A","p.Arg295His",1,"probably damaging ","0.002, 0.005, 0.003","damaging","disease causing","✽","yes","pathogenic","predicted pathogenic","LOVD"]
["HNF1B","c.886G>T ","(p.Val296Phe)",0.951,"possibly damaging","0.002, 0.001","damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar"]
["HNF1B","c.910A>G ","(p.Arg304Gly)",1,"probably damaging","0.007, 0.008","damaging","disease causing","✽","yes","likely pathogenic/likely risk allele","predicted pathogenic","ClinVar"]
["HNF1B","c.940G>A ","(p.Ala314Thr)",0.997,"probably damaging","0.007, 0.008, 0.011, 0.012","damaging","disease causing","✽","yes","likely pathogenic","predicted pathogenic","ClinVar"]