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{"sheet":"table1","index":0,"n_rows":30,"n_cols":15,"rows_kept":30,"merged":[[0,0,1,0],[0,1,1,1],[0,2,1,2],[0,3,1,3],[0,4,1,4],[0,5,0,6],[0,7,1,7],[0,8,1,8],[0,9,1,9],[0,10,0,13],[3,0,5,0],[4,1,5,1],[4,2,5,2],[4,3,5,3],[4,4,5,4],[4,5,5,5],[4,6,5,6],[4,7,5,7],[4,8,5,8],[4,9,5,9],[6,0,14,0],[10,1,11,1],[10,2,11,2],[10,3,11,3],[10,4,11,4],[10,7,11,7],[10,8,11,8],[10,9,11,9],[12,1,13,1],[12,2,13,2],[12,3,13,3],[12,4,13,4],[12,7,13,7],[12,8,13,8],[12,9,13,9],[15,0,16,0],[18,0,19,0],[21,0,22,0],[23,0,25,0],[29,0,33,14]]}
["Family","Member","Gender","Age of diagnosis","Disease","EM GBM changes",null,"Hematuria ","Proteinuria","eGFR(ml/min)","Mutations"]
[{"$nulls":5},"Thinning","Splitting/\nthickening",{"$nulls":3},"Gene","Zygosity","Exon","Nucleotide change","Amino Acid Change"]
[1,"Ⅱ-1","F",40,"AS","YES","YES","58/ul","+",62,"COL4A3","Het",21,"c.1213G>T","p.E405*"]
[2,"Ⅱ-1","M",52,"AS",null,null,"2-5/HP","normal",68,"COL4A3","Hom",3,"c.3509G>C","p.G1170A"]
[null,"Ⅲ-1","F",25,"AS","YES","YES",">3/HP","+",65.2,"COL4A3","Het",40,"c.3509G>C","p.G1170A"]
[{"$nulls":10},"UMOD","Het",3,"c.686T>A","p.M229K"]
[3,"Ⅰ-1","M",64,"normal",null,null,"normal","normal","normal","COL4A4","Het",22,"c.1505del","p.P502Lfs*151"]
[null,"Ⅰ-2","F",61,"AS",null,null,"normal","++",27.2,"COL4A3","Het",36,"c.2990G>A","p.G997E"]
[null,"Ⅱ-1","F",40,"AS",{"$nulls":4},33,"COL4A3","Het",36,"c.2990G>A","p.G997E"]
[null,"Ⅱ-2","F",38,"AS",null,null,">3/HP","-",130,"COL4A4","Het",22,"c.1505del","p.P502Lfs*151"]
[null,"Ⅱ-3","F",35,"AS","YES","YES","++","+",47,"COL4A3","Het",36,"c.2990G>A","p.G997E"]
[{"$nulls":10},"COL4A4","Het",22,"c.1505del","p.P502Lfs*151"]
[null,"Ⅱ-4","M",32,"AS",null,null,"457/ul","++",92.2,"COL4A3","Het",36,"c.2990G>A","p.G997E"]
[{"$nulls":10},"COL4A4","Het",22,"c.1505del","p.P502Lfs*151"]
[null,"Ⅲ-1","M",7,"normal",null,null,"normal","normal","normal","COL4A4","Het",22,"c.1505del","p.P502Lfs*151"]
[4,"Ⅱ-5","F",70,"TBMN",null,null,"+","+",41,"COL4A4","Het",11,"c.668G>T","p.G223V"]
[null,"Ⅲ-2","F",49,"TBMN","YES","NO","147/ul","+",86,"COL4A4","Het",11,"c.668G>T","p.G223V"]
[5,"Ⅱ-1","F",25,"AS","YES","YES","++","+",40.9,"COL4A4","Hom",14,"c.826G>A","p.Gly276Arg"]
[6,"Ⅰ-1","M",57,"TBMN",null,null,"+","-",77,"COL4A4","Het",21,"c.1396G>A","p.G466R"]
[null,"Ⅱ-1","F",29,"TBMN","YES","YES","591/ul","++",108,"COL4A4","Het",21,"c.1396G>A","p.G466R"]
[7,"Proband","F",29,"AS","YES","YES","103/ul","+++",107,"COL4A4","Het",44,"c.4129C>T","p.R1377*"]
[8,"Ⅰ-1","M",null,"-",null,null,"86/ul","+",null,"COL4A4","Het",48,"c.5044C>T","p.R1682W"]
[null,"Ⅱ-1","F",28,"AS","YES","YES","3-6/HP","++",null,"COL4A4","Het",48,"c.5044C>T","p.R1682W"]
[9,"Ⅱ-1","M",34,"AS","YES","YES","146/ul","+",59,"COL4A5","Het",29,"c.2359G>C","p.G787R"]
[null,"Ⅱ-2","F",69,{"$nulls":3},"+","++",null,"COL4A5","Het",29,"c.2359G>C","p.G787R"]
[null,"Ⅲ-1","F",11,"AS",null,null,"1158/ul","++",90,"COL4A5","Het",29,"c.2359G>C","p.G787R"]
[10,"Ⅰ-2","F",58,"AS",null,null,"+","++",null,"COL4A5","Het",31,"c.2605G>A","p.G869R"]
[null,"Ⅱ-2","F",32,"AS",null,null,"+","++",null,"COL4A5","Het",31,"c.2605G>A","p.G869R"]
[null,"Ⅲ-1","F",1,"AS",null,null,"+","+",110,"COL4A5","Het",31,"c.2605G>A","p.G869R"]
["Table1 Mutations in the type IV collagen genes (COL4A3, COL4A4 and COL4A5), identified in 22 patients from nine families.\nThe normal reference values for hematuria and proteinuria are negative, while the normal reference value for eGFR is greater than 80ml/min. F, Female; M, Male; EM GBM changes, Changes in the glomerular basement membrane, as seen under an electron microscope; AS, Alport syndrome; TBMN, Thin basement membrane nephropathy.\nPreviously undescribed mutations are shown in bold.  "]