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["Supplementray Table4: Filtering results from whole exome sequencing for patient II.5 showing only homozygous mutations with a MAF < 5%"]
[]
["Gene","Variant","Chr","Coordinate","Type","Genotype","Inherited From","Read Depth","Transcript","Consequence","cDNA Position","CDS Position","Protein Position","Amino Acids","Sift","PolyPhen","ENSP","HGVSc","HGVSp","dbSNP ID","Allele Freq","Allele Freq Global Minor","Global Minor Allele","Allele Freq Amr","Allele Freq Eas","Allele Freq Sas","Allele Freq Af","Allele Freq Eur","EVS Freq All","EVS Coverage","EVS Samples","ExAC Freq All","ExAC Freq Afr","ExAC Freq Amr","ExAC Freq Eas","ExAC Freq Sas","ExAC Freq Fin","ExAC Freq Nfe","ExAC Freq Other","ExAC Coverage","ExAC Samples","ClinVar Accession","ClinVar Alleles","ClinVar Significance"]
["ZP3","T>TG/TG",7,76071183,"insertion","hom","none",74,"NM_001110354.1","frameshift_variant","1095-1096","1085-1086",362,"V/VX",null,null,"NP_001103824.1","NM_001110354.1:c.1089dupG","NP_001103824.1:p.Pro364AlafsTer10","rs774054183",0,0,null,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,3000,59891]
["RPP38","C>T/T",10,15145453,"snv","hom","both",56,"NM_006414.4","missense_variant",380,140,47,"T/M","deleterious (0)","probably damaging (0.993)","NP_006405.2","NM_006414.4:c.140C>T","NP_006405.2:p.Thr47Met","rs41284459",0.06,0.06,"T",0.14,0.2,0,0,0,0.13,6600,6503,0.11,0.05,0.09,0.02,0.15,0,0.13,0.11,3900,60542]
["MRC1","G>A/A",10,18199267,"snv","hom","both",20,"NM_002438.3","missense_variant",4367,4244,1415,"R/H","tolerated (0.11)","benign (0.003)","NP_002429.1","NM_002438.3:c.4244G>A","NP_002429.1:p.Arg1415His",null,0,0,null,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0]
["TRPV2","C>T/T",17,16332214,"snv","hom","both",32,"NM_016113.4","missense_variant",1904,1505,502,"A/V","deleterious (0.01)","possibly damaging (0.512)","NP_057197.2","NM_016113.4:c.1505C>T","NP_057197.2:p.Ala502Val","rs756373391",0,0,null,0,0,0,0,0,0,0,0,0.01,0,0,0,0,0.06,0.01,0,3000,60706]
["MYO15A","T>C/C",17,18023568,"snv","hom","both",75,"NM_016239.3","missense_variant",1792,1454,485,"V/A",null,"benign (0.153)","NP_057323.3","NM_016239.3:c.1454T>C","NP_057323.3:p.Val485Ala","rs200532919",0.04,0.04,"C",0,0,0,0,0.2,0.09,4300,6223,0.09,0,0.06,0,0.16,0,0.11,0.34,2500,59452,"RCV000175875.1:RCV000223359.1","C","uncertain significance"]
["ABHD15","C>T/T",17,27889643,"snv","hom","both",37,"NM_198147.2","missense_variant",1401,1343,448,"R/Q","tolerated (0.08)","possibly damaging (0.509)","NP_937790.2","NM_198147.2:c.1343G>A","NP_937790.2:p.Arg448Gln","rs62070804",0.92,0.92,"T",1.44,0,0.1,1.13,1.99,1.77,7200,6503,1.43,0.98,1.31,0,0.62,0.32,2,3.2,4600,60606]
["EFCAB5","C>G/G",17,28380413,"snv","hom","both",75,"NM_198529.3","missense_variant",1633,1441,481,"Q/E","tolerated (0.59)","benign (0.067)","NP_940931.2","NM_198529.3:c.1441C>G","NP_940931.2:p.Gln481Glu","rs116666354",0.84,0.84,"G",0.29,0,0,2.95,0.1,0.67,13700,6001,0.25,1.94,0.33,0,0.03,0,0.1,0.33,3100,60362]
["EFCAB5","G>A/A",17,28417566,"snv","hom","both",71,"NM_198529.3","missense_variant",4003,3811,1271,"G/S","deleterious (0)","probably damaging (0.996)","NP_940931.2","NM_198529.3:c.3811G>A","NP_940931.2:p.Gly1271Ser","rs140949092",0.26,0.26,"A",0.29,0,0,0.76,0.1,0.22,13800,5945,0.12,0.48,0.27,0,0.04,0,0.09,0.33,3100,60352]
["NSRP1","G>A/A",17,28512039,"snv","hom","both",39,"NM_032141.3","missense_variant",1061,1024,342,"D/N","deleterious (0.03)","benign (0.282)","NP_115517.1","NM_032141.3:c.1024G>A","NP_115517.1:p.Asp342Asn","rs117171982",0.26,0.26,"A",0.29,0,0,0.76,0.1,0.23,5600,6503,0.12,0.5,0.26,0,0.02,0,0.09,0.33,2700,60322]
["MITF","C>T/T",3,70005681,"snv","hom","both",33,"NM_198159.2","missense_variant,splice_region_variant",1176,1013,338,"P/L","tolerated (0.92)","benign (0.169)","NP_937802.1","NM_198159.2:c.1013C>T","NP_937802.1:p.Pro338Leu","rs756923654",0,0,null,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0,0]