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["Family","Gene","Location(GRCh37.p13)","Mutation",null,"Polyphen2","Mutation Taster","Mutation Asscssor","Fathmm","Predictsnp","Clinvar","dbSNP ID","ACMG criteria"]
[{"$nulls":3},"DNA","Amino Acid"]
[1,"COL4A3","chr2:228128558","c.1213G>T","p.Glu405*","-","Disease causing","Stop gain","Damaging","Stop gain","Stop gain","rs2070736908","Pathogenic"]
[2,"COL4A3","chr2:228159770","c.3509G>C","p.Gly1170Ala","Probably damaging","Disease causing","High","Damaging","Deleterious","-","-","Likely pathogenic"]
[null,"UMOD","chr16:20359937","c.686T>A","p.Met229Lys","Probably damaging","Disease causing","-","-","-","-","-","Likely pathogenic"]
[3,"COL4A3","chr2:228154724","c.2990G>A","p.Gly977Glu","Probably damaging","Disease causing","High","Damaging","Deleterious","Uncertain/conflicting","rs1553762113 ","Pathogenic"]
[null,"COL4A4","chr2:227953487","c.1505delC","p.pro502Leufs*151","-","Disease causing","-","-","-","-","-","Pathogenic"]
[4,"COL4A4","chr2:227973574","c.668G>T","p.Gly223Val","Probably damaging","Disease causing","-","Damaging","-","-","-","Likely pathogenic"]
[5,"COL4A4","chr2:227967904","c.826G>A","p.Gly276Arg","Probably damaging","Disease causing","-","Damaging","Deleterious","-","-","Uncertain significance"]
[6,"COL4A4","chr2:227954647","c.1396G>A","p.Gly466Arg","Probably damaging","Disease causing","-","Damaging","-","Pathogenic","-","Pathogenic"]
[7,"COL4A4","chr2:227886850","c.4129C>T","p.Arg1377*","-","Disease causing","-","-","-","Pathogenic","rs559719653","Pathogenic"]
[8,"COL4A4","chr2:227872070","c.5044C>T","p.Arg1682Trp","Probably damaging","Disease causing","-","Damaging","-","Uncertain/conflicting","-","Pathogenic"]
[9,"COL4A5","chrX:107850086","c.2359G>C","p.Gly787Arg","Probably damaging","Disease causing","High","Damaging","Deleterious","Pathogenic/Likely pathogenic","rs1603293605","Pathogenic"]
[10,"COL4A5","chrX:107863584","c.2605G>A","p. Gly869Arg","Probably damaging","Disease causing","High","Damaging","Deleterious","-","-","Likely pathogenic"]
["Table2 Prediction of harmfulness of gene mutations.\na Polyphen-2, prediction of functional effects of human nsSNPs, http://genetics.bwh.harvard.edu/\nb Mutation Taster, https://www.mutationtaster.org/\nc Mutation Assessor, http://mutationassessor.org/\nd Fathmm, http://fathmm.biocompute.org.uk/\ne Predict SNP, https://loschmidt.chemi.muni.cz/predictsnp2/\nf ClinVar, https://www.ncbi.nlm.nih.gov/clinvar\ng dbSNP, https://www.ncbi.nlm.nih.gov/snp\nPreviously undescribed mutations are shown in bold \n"]