### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AGXT) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "AGXT" "alanine-glyoxylate aminotransferase" "2" "q37.3" "unknown" "NG_008005.1" "UD_132119166475" "" "https://www.LOVD.nl/AGXT" "" "1" "341" "189" "604285" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/AGXT_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2021-04-14 13:35:45" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000073" "AGXT" "alanine-glyoxylate aminotransferase" "001" "NM_000030.2" "" "NP_000021.1" "" "" "" "-121" "1477" "1179" "241808162" "241818536" "00002" "2012-05-11 13:12:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20" "01995" "HP1" "hyperoxaluria, primary, type I (HP1)" "AR" "259900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-04-14 13:35:08" "06945" "HP" "hyperoxaluria" "" "" "" "" "" "00006" "2022-07-11 17:29:01" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AGXT" "01995" ## Individuals ## Do not remove or alter this header ## ## Count = 65 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000046" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000051" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000055" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000062" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000074" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000077" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00017599" "" "" "" "1" "" "00006" "{PMID:Casey 2014:24824133}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "yes" "Ireland" "" "0" "" "" "Irish Traveller" "" "00204578" "" "" "" "1" "" "02967" "{PMID:Bruno 2011:21850686}, {DOI:Bruno 2011:10.1002/humu.21581}" "" "" "" "Australia" "" "0" "" "" "" "Pat7" "00292664" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292665" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292666" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292667" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00362012" "" "" "" "2" "" "03676" "{PMID:Soliman 2022:36151119}" "family, 2 affected identical twins" "M" "yes" "Egypt" "" "0" "" "" "white" "Fam15Pat16" "00362013" "" "" "" "1" "" "03676" "{PMID:Soliman 2022:36151119}" "patient" "M" "yes" "(Egypt)" "" "0" "" "" "" "Fam16Pat18" "00411364" "" "" "" "1" "cc_by-nc-nd_4.0;1" "02461" "Abid 2022, submitted" "2-generation family suffering from hyperoxaluria, primary, type I (HP1)" "M" "likely" "Pakistan" "" "0" "" "" "Pakistan" "1002" "00411365" "" "" "" "2" "" "02461" "Abid 2022, submitted" "familial" "M" "yes" "Pakistan" ">11y" "0" "" "" "Asia-S" "1003" "00411366" "" "" "" "2" "" "02461" "Abid 2022, submitted" "" "M" "yes" "Pakistan" "" "0" "" "" "Asia-S" "1004" "00411367" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "M" "likely" "Pakistan" "" "" "" "" "Pakistan" "1005" "00411378" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "F" "likely" "Pakistan" "" "" "" "" "Pakistan" "1006" "00411379" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "M" "likely" "Pakistan" "" "" "" "" "Pakistan" "1007" "00411410" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "M" "likely" "Pakistan" "" "" "" "" "Pakistan" "1008" "00411413" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "M" "likely" "Pakistan" "" "" "" "" "Pakistan" "1008" "00411414" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "M" "likely" "Pakistan" "" "" "" "" "Pakistan" "1010" "00411415" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "F" "yes" "Pakistan" ">11y" "" "" "" "Pakistan" "1011" "00411416" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "M" "likely" "Pakistan" "" "" "" "" "Pakistan" "1012" "00411418" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "M" "likely" "Pakistan" "" "" "" "" "Pakistan" "1013" "00411422" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "M" "?" "Pakistan" "" "" "" "" "Pakistan" "1014" "00411423" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "M" "likely" "Pakistan" "" "" "" "" "Pakistan" "1015" "00411424" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "M" "?" "Pakistan" "" "" "" "" "Pakistan" "1016" "00411425" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "M" "likely" "Pakistan" "" "" "" "" "Pakistan" "1017" "00411426" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "F" "likely" "Pakistan" "" "" "" "" "Pakistan" "1018" "00411456" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "M" "no" "Pakistan" "" "" "" "" "Pakistan" "1019" "00411457" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "F" "?" "Pakistan" "" "" "" "" "Pakistan" "1020" "00411458" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "M" "?" "Pakistan" "" "" "" "" "Pakistan" "1021" "00411496" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "M" "?" "Pakistan" "" "" "" "" "Pakistan" "1022" "00411501" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "M" "?" "Pakistan" "" "" "" "" "Pakistan" "1023" "00411504" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "F" "yes" "Pakistan" "" "" "" "" "Pakistan" "1024" "00411505" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "M" "likely" "Pakistan" "" "" "" "" "Pakistan" "1025" "00411528" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "M" "?" "Pakistan" "" "" "" "" "Pakistan" "1027" "00411529" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "F" "?" "Pakistan" "" "0" "" "" "Pakistan" "1028" "00411530" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "M" "yes" "Pakistan" "" "" "" "" "Pakistan" "1029" "00411531" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "M" "yes" "Pakistan" "" "" "" "" "Pakistan" "1031" "00411546" "" "" "" "1" "" "02461" "Abid 2022, submitted" "" "F" "likely" "Pakistan" "" "" "" "" "Pakistan" "1033" "00414395" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP62" "00414441" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP108" "00414473" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP140" "00419547" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "8059" "00467572" "" "" "" "1" "" "03676" "{PMID:Soliman 2022:36151119}" "patient" "M" "" "Egypt" "" "0" "" "" "" "Fam1Pat1" "00467573" "" "" "" "1" "" "03676" "{PMID:Soliman 2022:36151119}" "patient" "F" "" "Egypt" "" "0" "" "" "" "Fam2Pat2" "00467574" "" "" "" "1" "" "03676" "{PMID:Soliman 2022:36151119}" "patient" "M" "" "Egypt" "" "0" "" "" "" "Fam3Pat3" "00467575" "" "" "" "1" "" "03676" "{PMID:Soliman 2022:36151119}" "patient" "M" "" "Egypt" "" "0" "" "" "" "Fam4Pat4" "00467576" "" "" "" "1" "" "03676" "{PMID:Soliman 2022:36151119}" "patient" "F" "" "Egypt" "" "0" "" "" "" "Fam5Pat5" "00467577" "" "" "" "1" "" "03676" "{PMID:Soliman 2022:36151119}" "patient" "M" "" "Egypt" "" "0" "" "" "" "Fam6Pat6" "00467578" "" "" "" "1" "" "03676" "{PMID:Soliman 2022:36151119}" "patient" "M" "" "Egypt" "" "0" "" "" "" "Fam7Pat7" "00467579" "" "" "" "1" "" "03676" "{PMID:Soliman 2022:36151119}" "patient" "M" "" "Egypt" "" "0" "" "" "" "Fam8Pat8" "00467580" "" "" "" "1" "" "03676" "{PMID:Soliman 2022:36151119}" "patient" "M" "" "Egypt" "" "0" "" "" "" "Fam9Pat9" "00467581" "" "" "" "1" "" "03676" "{PMID:Soliman 2022:36151119}" "patient" "M" "" "Egypt" "" "0" "" "" "" "Fam10Pat10" "00467582" "" "" "" "2" "" "03676" "{PMID:Soliman 2022:36151119}" "family, 2 affected sibs" "M" "" "Egypt" "" "0" "" "" "" "Fam11Pat11" "00467583" "" "" "00467582" "1" "" "03676" "{PMID:Soliman 2022:36151119}" "sib" "M" "" "Egypt" "" "0" "" "" "" "Fam11Pat12" "00467584" "" "" "" "1" "" "03676" "{PMID:Soliman 2022:36151119}" "patient" "F" "" "Egypt" "" "0" "" "" "" "Fam12Pat13" "00467585" "" "" "" "1" "" "03676" "{PMID:Soliman 2022:36151119}" "patient" "M" "" "Egypt" "" "0" "" "" "" "Fam13Pat14" "00467586" "" "" "" "1" "" "03676" "{PMID:Soliman 2022:36151119}" "patient" "F" "" "Egypt" "" "0" "" "" "" "Fam14Pat15" "00467587" "" "" "00362012" "1" "" "03676" "{PMID:Soliman 2022:36151119}" "twin" "M" "" "Egypt" "" "0" "" "" "" "Fam15Pat17" "00467588" "" "" "" "1" "" "03676" "{PMID:Soliman 2022:36151119}" "patient" "M" "" "Egypt" "" "0" "" "" "" "Fam17Pat19" "00467589" "" "" "" "1" "" "03676" "{PMID:Soliman 2022:36151119}" "patient" "F" "" "Egypt" "" "0" "" "" "" "Fam18Pat20" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 59 "{{individualid}}" "{{diseaseid}}" "00017599" "00332" "00204578" "06945" "00292664" "00198" "00292665" "00198" "00292666" "00198" "00292667" "00198" "00362012" "01995" "00362013" "01995" "00411364" "01995" "00411365" "01995" "00411366" "01995" "00411367" "01995" "00411378" "01995" "00411379" "01995" "00411410" "01995" "00411413" "01995" "00411414" "01995" "00411415" "01995" "00411416" "01995" "00411418" "01995" "00411422" "01995" "00411423" "01995" "00411424" "01995" "00411425" "01995" "00411426" "01995" "00411456" "01995" "00411457" "01995" "00411458" "01995" "00411496" "01995" "00411501" "01995" "00411504" "01995" "00411505" "01995" "00411528" "01995" "00411529" "01995" "00411530" "01995" "00411531" "01995" "00411546" "01995" "00414395" "00198" "00414441" "00198" "00414473" "00198" "00419547" "00198" "00467572" "01995" "00467573" "01995" "00467574" "01995" "00467575" "01995" "00467576" "01995" "00467577" "01995" "00467578" "01995" "00467579" "01995" "00467580" "01995" "00467581" "01995" "00467582" "01995" "00467583" "01995" "00467584" "01995" "00467585" "01995" "00467586" "01995" "00467587" "01995" "00467588" "01995" "00467589" "01995" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00332, 01995, 06945 ## Count = 54 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000015958" "00332" "00017599" "00006" "Isolated (sporadic)" "" "see paper; normal situs, EM revealed that, typically, both inner and outer dynein arms are absent" "" "" "" "" "" "" "" "" "" "" "" "0000303403" "01995" "00411364" "02461" "Familial, autosomal recessive" "17y" "hyperoxaluria" "" "17y" "" "" "" "" "" "" "hyperoxaluria" "" "" "0000303404" "01995" "00411365" "02461" "Familial, autosomal recessive" "11y" "hyperoxaluria" "" "11y" "renal stone" "" "" "" "" "" "" "oxalosis" "" "0000303405" "01995" "00411366" "02461" "Familial, autosomal recessive" "08y" "" "" "08y" "" "" "" "" "" "" "Primary hyperoxaluria" "oxalosis" "" "0000303406" "01995" "00411367" "02461" "Familial, autosomal recessive" "07y" "" "" "07y" "" "" "" "" "" "" "Primary hyperoxaluria" "CKD stone disease" "" "0000303418" "01995" "00411378" "02461" "Familial, autosomal recessive" "04y" "ESRD stone disease" "" "04y" "" "" "" "" "" "" "Primary hyperoxaluria" "oxalosis" "" "0000303419" "01995" "00411379" "02461" "Familial, autosomal recessive" "07y" "" "" "07y" "" "" "" "" "" "" "Primary hyperoxaluria" "oxalosis" "" "0000303450" "01995" "00411410" "02461" "Familial, autosomal recessive" "13y" "" "" "13y" "" "" "" "" "" "" "Primary hyperoxaluria" "oxalosis" "" "0000303453" "01995" "00411413" "02461" "Familial, autosomal recessive" "08y" "stone disease with nephrocalcinosis" "" "08y" "" "" "" "" "" "" "Primary hyperoxaluria" "oxalosis" "" "0000303454" "01995" "00411414" "02461" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Primary hyperoxaluria" "oxalosis" "" "0000303455" "01995" "00411415" "02461" "Familial, autosomal recessive" "" "calcium stone disease with nephrocalcinosis" "" "" "" "" "" "" "" "" "Primary hyperoxaluria" "oxalosis" "" "0000303457" "01995" "00411416" "02461" "Familial, autosomal recessive" "02y05m" "" "" "02y05m" "" "" "" "" "" "" "Primary hyperoxaluria" "oxalosis" "" "0000303458" "01995" "00411418" "02461" "Familial, autosomal recessive" "05y" "" "" "05y" "" "" "" "" "" "" "Primary hyperoxaluria" "oxalosis" "" "0000303462" "01995" "00411422" "02461" "Familial, autosomal recessive" "00y06m" "familial stone disease, nephrocalcinosis" "" "00y08m" "" "" "" "" "" "" "Primary hyperoxaluria" "oxalosis" "" "0000303463" "01995" "00411423" "02461" "Familial, autosomal recessive" "12y" "" "" "12y" "" "" "" "" "" "" "Primary hyperoxaluria" "oxalosis" "" "0000303464" "01995" "00411424" "02461" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Primary hyperoxaluria" "oxalosis" "" "0000303465" "01995" "00411425" "02461" "Familial, autosomal recessive" "03y" "stone disease, nephrocalcinosis" "" "03y" "" "" "" "" "" "" "Primary hyperoxaluria" "oxalosis" "" "0000303466" "01995" "00411426" "02461" "Familial, autosomal recessive" "09y" "" "" "09y" "" "" "" "" "" "" "Primary hyperoxaluria" "oxalosis" "" "0000303493" "01995" "00411456" "02461" "Familial, autosomal recessive" "02y" "" "" "02y" "" "" "" "" "" "" "Primary hyperoxaluria" "oxalosis" "" "0000303494" "01995" "00411457" "02461" "Familial, autosomal recessive" "16y" "" "" "16y" "" "" "" "" "" "" "Primary hyperoxaluria" "oxalosis" "" "0000303495" "01995" "00411458" "02461" "Familial, autosomal recessive" "12y" "" "" "12y" "" "" "" "" "" "" "Primary hyperoxaluria" "" "" "0000303533" "01995" "00411496" "02461" "Familial, autosomal recessive" "16y" "" "" "16y" "" "" "" "" "" "" "Primary hyperoxaluria" "" "" "0000303538" "01995" "00411501" "02461" "Familial, autosomal recessive" "12y" "" "" "12y" "" "" "" "" "" "" "Primary hyperoxaluria" "" "" "0000303541" "01995" "00411504" "02461" "Familial, autosomal recessive" "" "CKD stone disease" "" "" "" "" "" "" "" "" "Primary hyperoxaluria" "oxalosis" "" "0000303542" "01995" "00411505" "02461" "Familial, autosomal recessive" "" "stone disease with nephrocalcinosis" "" "" "" "" "" "" "" "" "Primary hyperoxaluria" "" "" "0000303564" "01995" "00411528" "02461" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Primary hyperoxaluria" "oxalosis" "" "0000303565" "01995" "00411529" "02461" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Primary hyperoxaluria" "oxalosis" "" "0000303566" "01995" "00411530" "02461" "Familial, autosomal recessive" "03y" "oxalosis nephrocalcinosis" "" "03y" "" "" "" "" "" "" "Primary hyperoxaluria" "oxalosis" "" "0000303568" "01995" "00411531" "02461" "Familial, autosomal recessive" "00y11m" "" "" "00y11m" "" "" "" "" "" "" "Primary hyperoxaluria" "" "" "0000303583" "01995" "00411546" "02461" "Familial, autosomal recessive" "04y" "" "" "04y" "" "" "" "" "" "" "Primary hyperoxaluria" "" "" "0000306230" "00198" "00414395" "00000" "Familial, autosomal recessive" "36y" "" "" "" "" "" "" "" "" "" "Primary Hyperoxaluria Type 1" "" "" "0000306276" "00198" "00414441" "00000" "Unknown" "6y" "Primary Hyperoxaluria Type 1;Dent Disease 2" "" "" "" "" "" "" "" "" "" "" "" "0000306308" "00198" "00414473" "00000" "Familial, autosomal recessive" "11y" "" "" "" "" "" "" "" "" "" "Primary Hyperoxaluria Type 1" "" "" "0000310828" "00198" "00419547" "02300" "Familial, autosomal recessive" "4y" "" "" "" "" "" "" "" "" "" "" "renal abnormality" "" "0000352782" "01995" "00362013" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HP1" "hyperoxaluria" "" "0000352783" "01995" "00362012" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HP1" "hyperoxaluria" "" "0000352784" "01995" "00467572" "03676" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HP1" "hyperoxaluria" "" "0000352785" "01995" "00467573" "03676" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HP1" "hyperoxaluria" "" "0000352786" "01995" "00467574" "03676" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HP1" "hyperoxaluria" "" "0000352787" "01995" "00467575" "03676" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HP1" "hyperoxaluria" "" "0000352788" "01995" "00467576" "03676" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HP1" "hyperoxaluria" "" "0000352789" "01995" "00467577" "03676" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HP1" "hyperoxaluria" "" "0000352790" "01995" "00467578" "03676" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HP1" "hyperoxaluria" "" "0000352791" "01995" "00467579" "03676" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HP1" "hyperoxaluria" "" "0000352792" "01995" "00467580" "03676" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HP1" "hyperoxaluria" "" "0000352793" "01995" "00467581" "03676" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HP1" "hyperoxaluria" "" "0000352794" "01995" "00467582" "03676" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HP1" "hyperoxaluria" "" "0000352795" "01995" "00467583" "03676" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HP1" "hyperoxaluria" "" "0000352796" "01995" "00467584" "03676" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HP1" "hyperoxaluria" "" "0000352797" "01995" "00467585" "03676" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HP1" "hyperoxaluria" "" "0000352798" "01995" "00467586" "03676" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HP1" "hyperoxaluria" "" "0000352799" "01995" "00467587" "03676" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HP1" "hyperoxaluria" "" "0000352800" "01995" "00467588" "03676" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HP1" "hyperoxaluria" "" "0000352801" "01995" "00467589" "03676" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "HP1" "hyperoxaluria" "" ## Screenings ## Do not remove or alter this header ## ## Count = 65 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000046" "00000046" "1" "00004" "" "2012-05-11 13:18:48" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000051" "00000051" "1" "00004" "" "2012-05-11 13:18:50" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000055" "00000055" "1" "00004" "" "2012-05-11 13:18:51" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000062" "00000062" "1" "00004" "" "2012-05-11 13:18:54" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000074" "00000074" "1" "00004" "" "2012-05-11 13:18:59" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000077" "00000077" "1" "00004" "" "2012-05-11 13:19:03" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000017582" "00017599" "1" "00006" "00006" "2014-06-20 23:46:41" "00006" "2014-06-21 21:46:02" "arraySNP;SEQ;SEQ-NG-I" "DNA" "" "" "0000205607" "00204578" "1" "02967" "02967" "2011-06-30 07:31:33" "00006" "2011-06-30 16:17:56" "SEQ" "DNA" "" "" "0000293832" "00292664" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293833" "00292665" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293834" "00292666" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293835" "00292667" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000363240" "00362012" "1" "03676" "03676" "2021-04-13 16:47:23" "" "" "SEQ" "DNA" "Blood" "" "0000363241" "00362013" "1" "03676" "03676" "2021-04-13 17:06:29" "" "" "SEQ" "DNA" "Blood" "" "0000412633" "00411364" "1" "02461" "02461" "2022-06-13 08:35:31" "" "" "SEQ" "DNA" "" "" "0000412634" "00411365" "1" "02461" "02461" "2022-06-13 09:34:44" "" "" "SEQ-NG-IT" "DNA" "" "" "0000412635" "00411366" "1" "02461" "02461" "2022-06-13 10:02:57" "" "" "SEQ-NG-IT" "DNA" "" "" "0000412636" "00411367" "1" "02461" "02461" "2022-06-13 10:26:01" "" "" "SEQ" "DNA" "" "" "0000412647" "00411378" "1" "02461" "02461" "2022-06-13 10:49:39" "" "" "SEQ" "DNA" "" "" "0000412648" "00411379" "1" "02461" "02461" "2022-06-13 11:04:40" "" "" "SEQ" "DNA" "" "" "0000412679" "00411410" "1" "02461" "02461" "2022-06-13 11:14:21" "" "" "SEQ" "DNA" "" "" "0000412682" "00411413" "1" "02461" "02461" "2022-06-13 11:45:17" "" "" "SEQ" "DNA" "" "" "0000412683" "00411414" "1" "02461" "02461" "2022-06-13 11:52:42" "" "" "SEQ" "DNA" "" "" "0000412684" "00411415" "1" "02461" "02461" "2022-06-13 12:03:10" "" "" "SEQ" "DNA" "" "" "0000412686" "00411416" "1" "02461" "02461" "2022-06-13 12:12:12" "" "" "SEQ" "DNA" "" "" "0000412687" "00411418" "1" "02461" "02461" "2022-06-13 12:19:34" "" "" "SEQ" "DNA" "" "" "0000412691" "00411422" "1" "02461" "02461" "2022-06-13 12:36:20" "" "" "SEQ" "DNA" "" "" "0000412692" "00411423" "1" "02461" "02461" "2022-06-13 12:57:18" "" "" "SEQ" "DNA" "" "" "0000412693" "00411424" "1" "02461" "02461" "2022-06-13 13:12:01" "" "" "SEQ" "DNA" "" "" "0000412694" "00411425" "1" "02461" "02461" "2022-06-13 13:42:36" "" "" "SEQ" "DNA" "" "" "0000412695" "00411426" "1" "02461" "02461" "2022-06-13 13:50:43" "" "" "SEQ" "DNA" "" "" "0000412726" "00411456" "1" "02461" "02461" "2022-06-14 07:01:26" "" "" "SEQ" "DNA" "" "" "0000412727" "00411457" "1" "02461" "02461" "2022-06-14 07:19:59" "" "" "SEQ" "DNA" "" "" "0000412728" "00411458" "1" "02461" "02461" "2022-06-14 07:28:06" "" "" "SEQ" "DNA" "" "" "0000412766" "00411496" "1" "02461" "02461" "2022-06-14 11:49:01" "" "" "SEQ" "DNA" "" "" "0000412771" "00411501" "1" "02461" "02461" "2022-06-14 11:56:58" "" "" "SEQ" "DNA" "" "" "0000412774" "00411504" "1" "02461" "02461" "2022-06-14 13:42:56" "" "" "SEQ" "DNA" "" "" "0000412775" "00411505" "1" "02461" "02461" "2022-06-14 13:49:58" "" "" "SEQ" "DNA" "" "" "0000412798" "00411528" "1" "02461" "02461" "2022-06-15 05:26:31" "" "" "SEQ" "DNA" "" "" "0000412799" "00411529" "1" "02461" "02461" "2022-06-15 05:35:54" "" "" "SEQ" "DNA" "" "" "0000412800" "00411530" "1" "02461" "02461" "2022-06-15 05:56:19" "" "" "SEQ" "DNA" "" "" "0000412801" "00411531" "1" "02461" "02461" "2022-06-15 10:41:11" "" "" "SEQ" "DNA" "" "" "0000412816" "00411546" "1" "02461" "02461" "2022-06-15 12:38:14" "" "" "SEQ" "DNA" "" "" "0000415675" "00414395" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415721" "00414441" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415753" "00414473" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000420851" "00419547" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000469236" "00467572" "1" "03676" "00006" "2025-10-22 10:35:48" "" "" "SEQ" "DNA" "" "" "0000469237" "00467573" "1" "03676" "00006" "2025-10-22 10:35:48" "" "" "SEQ" "DNA" "" "" "0000469238" "00467574" "1" "03676" "00006" "2025-10-22 10:35:48" "" "" "SEQ" "DNA" "" "" "0000469239" "00467575" "1" "03676" "00006" "2025-10-22 10:35:48" "" "" "SEQ" "DNA" "" "" "0000469240" "00467576" "1" "03676" "00006" "2025-10-22 10:35:48" "" "" "SEQ" "DNA" "" "" "0000469241" "00467577" "1" "03676" "00006" "2025-10-22 10:35:48" "" "" "SEQ" "DNA" "" "" "0000469242" "00467578" "1" "03676" "00006" "2025-10-22 10:35:48" "" "" "SEQ" "DNA" "" "" "0000469243" "00467579" "1" "03676" "00006" "2025-10-22 10:35:48" "" "" "SEQ" "DNA" "" "" "0000469244" "00467580" "1" "03676" "00006" "2025-10-22 10:35:48" "" "" "SEQ" "DNA" "" "" "0000469245" "00467581" "1" "03676" "00006" "2025-10-22 10:35:48" "" "" "SEQ" "DNA" "" "" "0000469246" "00467582" "1" "03676" "00006" "2025-10-22 10:35:48" "" "" "SEQ" "DNA" "" "" "0000469247" "00467583" "1" "03676" "00006" "2025-10-22 10:35:48" "" "" "SEQ" "DNA" "" "" "0000469248" "00467584" "1" "03676" "00006" "2025-10-22 10:35:48" "" "" "SEQ" "DNA" "" "" "0000469249" "00467585" "1" "03676" "00006" "2025-10-22 10:35:48" "" "" "SEQ" "DNA" "" "" "0000469250" "00467586" "1" "03676" "00006" "2025-10-22 10:35:48" "" "" "SEQ" "DNA" "" "" "0000469251" "00467587" "1" "03676" "00006" "2025-10-22 10:35:48" "" "" "SEQ" "DNA" "" "" "0000469252" "00467588" "1" "03676" "00006" "2025-10-22 10:35:48" "" "" "SEQ" "DNA" "" "" "0000469253" "00467589" "1" "03676" "00006" "2025-10-22 10:35:48" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 133 "{{screeningid}}" "{{geneid}}" "0000000046" "AGXT" "0000000046" "ATP7B" "0000000046" "CFTR" "0000000046" "CYP27A1" "0000000046" "DPYD" "0000000046" "EHMT1" "0000000046" "GLB1" "0000000046" "IGHMBP2" "0000000046" "NPHS1" "0000000046" "POLG" "0000000046" "SERPINA1" "0000000046" "SMPD1" "0000000051" "AGXT" "0000000051" "AHI1" "0000000051" "ATP7B" "0000000051" "DPYD" "0000000051" "ETFB" "0000000051" "FAH" "0000000051" "GALC" "0000000051" "GLB1" "0000000051" "IGHMBP2" "0000000051" "MYO5A" "0000000051" "NHLRC1" "0000000051" "NPHS1" "0000000051" "PKHD1" "0000000055" "ACADVL" "0000000055" "AGXT" "0000000055" "ATP7B" "0000000055" "DPYD" "0000000055" "ETFB" "0000000055" "GLB1" "0000000055" "HBB" "0000000055" "MYO5A" "0000000055" "NHLRC1" "0000000055" "NPHS1" "0000000055" "SERPINA1" "0000000062" "AGXT" "0000000062" "ATP7B" "0000000062" "CLN3" "0000000062" "CYP21A2" "0000000062" "ETFB" "0000000062" "GALC" "0000000062" "GALT" "0000000062" "GLB1" "0000000062" "HSPG2" "0000000062" "IGHMBP2" "0000000062" "MEFV" "0000000062" "NEB" "0000000062" "NPHS1" "0000000062" "SERPINA1" "0000000062" "SLC26A2" "0000000062" "TGM1" "0000000074" "AGXT" "0000000074" "ATP7B" "0000000074" "CFTR" "0000000074" "ERCC5" "0000000074" "GLB1" "0000000074" "MTHFR" "0000000074" "NHLRC1" "0000000074" "NPHS1" "0000000074" "SERPINA1" "0000000077" "AGXT" "0000000077" "ATP7B" "0000000077" "ETFB" "0000000077" "GLB1" "0000000077" "MYO5A" "0000000077" "NPHS1" "0000000077" "SERPINA1" "0000000077" "SLC26A2" "0000000077" "USH2A" "0000017582" "ADRA1D" "0000017582" "AGXT" "0000017582" "DYX1C1" "0000017582" "EIF3CL" "0000017582" "IRF5" "0000017582" "LPHN3" "0000017582" "MYO18B" "0000017582" "PTPRJ" "0000017582" "STARD9" "0000017582" "TUBGCP6" "0000205607" "AGXT" "0000363240" "AGXT" "0000363241" "AGXT" "0000412633" "AGXT" "0000412634" "AGXT" "0000412635" "AGXT" "0000412636" "AGXT" "0000412647" "AGXT" "0000412648" "AGXT" "0000412679" "AGXT" "0000412682" "AGXT" "0000412683" "AGXT" "0000412684" "AGXT" "0000412686" "AGXT" "0000412687" "AGXT" "0000412691" "AGXT" "0000412692" "AGXT" "0000412693" "AGXT" "0000412694" "AGXT" "0000412695" "AGXT" "0000412726" "AGXT" "0000412727" "AGXT" "0000412728" "AGXT" "0000412766" "AGXT" "0000412771" "AGXT" "0000412774" "AGXT" "0000412775" "AGXT" "0000412798" "AGXT" "0000412799" "AGXT" "0000412800" "AGXT" "0000412801" "AGXT" "0000412816" "AGXT" "0000415675" "AGXT" "0000415721" "AGXT" "0000415753" "AGXT" "0000469236" "AGXT" "0000469237" "AGXT" "0000469238" "AGXT" "0000469239" "AGXT" "0000469240" "AGXT" "0000469241" "AGXT" "0000469242" "AGXT" "0000469243" "AGXT" "0000469244" "AGXT" "0000469245" "AGXT" "0000469246" "AGXT" "0000469247" "AGXT" "0000469248" "AGXT" "0000469249" "AGXT" "0000469250" "AGXT" "0000469251" "AGXT" "0000469252" "AGXT" "0000469253" "AGXT" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 118 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000000840" "0" "50" "2" "241812461" "241812461" "subst" "0.0110696" "00002" "AGXT_000001" "g.241812461G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.240873044G>A" "" "VUS" "" "0000000841" "0" "50" "2" "241813413" "241813413" "subst" "4.06478E-6" "00002" "AGXT_000002" "g.241813413C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.240873996C>T" "" "VUS" "" "0000000842" "0" "50" "2" "241808308" "241808308" "subst" "0.00926656" "00002" "AGXT_000003" "g.241808308C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.240868891C>A" "" "VUS" "" "0000000843" "0" "50" "2" "241808308" "241808308" "subst" "0.00926656" "00002" "AGXT_000003" "g.241808308C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.240868891C>A" "" "VUS" "" "0000000844" "0" "50" "2" "241808308" "241808308" "subst" "0.00926656" "00002" "AGXT_000003" "g.241808308C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.240868891C>A" "" "VUS" "" "0000000845" "0" "50" "2" "241808308" "241808308" "subst" "0.00926656" "00002" "AGXT_000003" "g.241808308C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.240868891C>A" "" "VUS" "" "0000037583" "3" "50" "2" "241808315" "241808315" "dup" "0" "00006" "AGXT_000004" "g.241808315dup" "" "{PMID:Casey 2014:24824133}" "" "" "" "Unknown" "" "" "0" "" "" "g.240868898dup" "" "VUS" "" "0000337612" "0" "10" "2" "241808792" "241808792" "subst" "0.147137" "02327" "AGXT_000009" "g.241808792C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240869375C>T" "" "benign" "" "0000340667" "0" "10" "2" "241808685" "241808685" "subst" "0.148857" "02327" "AGXT_000008" "g.241808685C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240869268C>T" "" "benign" "" "0000345785" "0" "90" "2" "241810850" "241810850" "subst" "0.000549312" "02327" "AGXT_000010" "g.241810850G>A" "" "" "" "AGXT(NM_000030.3):c.508G>A (p.(Gly170Arg), p.G170R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240871433G>A" "" "pathogenic" "" "0000435005" "3" "90" "2" "241810066" "241810066" "subst" "0" "02967" "AGXT_000012" "g.241810066C>T" "" "{PMID:Bruno 2011:21850686}, {DOI:Bruno 2011:10.1002/humu.21581}" "" "" "" "Germline" "" "" "0" "" "" "g.240870649C>T" "" "pathogenic (recessive)" "" "0000515397" "0" "30" "2" "241808317" "241808317" "subst" "0.000777547" "01943" "AGXT_000013" "g.241808317A>G" "" "" "" "AGXT(NM_000030.2):c.35A>G (p.K12R), AGXT(NM_000030.3):c.35A>G (p.K12R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240868900A>G" "" "likely benign" "" "0000515399" "0" "50" "2" "241808447" "241808447" "subst" "0" "01804" "AGXT_000015" "g.241808447G>C" "" "" "" "AGXT(NM_000030.2):c.165G>C (p.(Gln55His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240869030G>C" "" "VUS" "" "0000515400" "0" "10" "2" "241808463" "241808463" "subst" "0.160932" "02327" "AGXT_000016" "g.241808463A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240869046A>G" "" "benign" "" "0000515401" "0" "10" "2" "241813496" "241813496" "subst" "0.148709" "02327" "AGXT_000017" "g.241813496C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240874079C>T" "" "benign" "" "0000515402" "0" "10" "2" "241814432" "241814432" "subst" "0" "02326" "AGXT_000018" "g.241814432G>A" "" "" "" "AGXT(NM_000030.3):c.681-94G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240875015G>A" "" "benign" "" "0000650521" "1" "70" "2" "241808723" "241808723" "subst" "3.26939E-5" "03575" "AGXT_000020" "g.241808723T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs180177195}" "Germline" "" "rs180177195" "0" "" "" "g.240869306T>C" "" "likely pathogenic" "" "0000650522" "1" "70" "2" "241808767" "241808767" "subst" "4.34854E-6" "03575" "AGXT_000021" "g.241808767G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs180177207}" "Germline" "" "rs180177207" "0" "" "" "g.240869350G>A" "" "likely pathogenic" "" "0000650523" "1" "70" "2" "241812431" "241812431" "subst" "0" "03575" "AGXT_000022" "g.241812431C>T" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs180177238}" "Germline" "" "rs180177238" "0" "" "" "g.240873014C>T" "" "likely pathogenic" "" "0000650524" "1" "70" "2" "241817545" "241817545" "subst" "4.07558E-5" "03575" "AGXT_000023" "g.241817545G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs180177156}" "Germline" "" "rs180177156" "0" "" "" "g.240878128G>A" "" "likely pathogenic" "" "0000676588" "0" "30" "2" "241817048" "241817048" "subst" "0.000194718" "01943" "AGXT_000024" "g.241817048C>T" "" "" "" "AGXT(NM_000030.2):c.941C>T (p.P314L), AGXT(NM_000030.3):c.941C>T (p.(Pro314Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688718" "0" "10" "2" "241812428" "241812428" "subst" "0.0111028" "02326" "AGXT_000025" "g.241812428C>T" "" "" "" "AGXT(NM_000030.3):c.557C>T (p.A186V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688719" "0" "50" "2" "241816951" "241816951" "subst" "4.8402E-5" "01943" "AGXT_000026" "g.241816951C>G" "" "" "" "AGXT(NM_000030.2):c.847-3C>G, AGXT(NM_000030.3):c.847-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718681" "0" "90" "2" "241808315" "241808315" "dup" "0" "01943" "AGXT_000004" "g.241808315dup" "" "" "" "AGXT(NM_000030.2):c.33dupC (p.K12Qfs*156)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000763697" "11" "90" "2" "241808586" "241808593" "dup" "0" "03676" "AGXT_000027" "g.241808586_241808593dup" "" "{PMID:Soliman 2022:36151119}" "" "166-1_172dupGATCATGG" "" "Germline" "yes" "" "0" "" "" "g.240869169_240869176dup" "" "pathogenic (recessive)" "ACMG" "0000763698" "3" "90" "2" "241814611" "241814611" "del" "0" "03676" "AGXT_000028" "g.241814611del" "" "{PMID:Soliman 2022:36151119}" "" "766delC" "" "Germline" "yes" "" "0" "" "" "g.240875194del" "" "pathogenic (recessive)" "ACMG" "0000849821" "0" "30" "2" "241810058" "241810058" "subst" "0.000106246" "02326" "AGXT_000032" "g.241810058C>A" "" "" "" "AGXT(NM_000030.3):c.359-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849822" "0" "30" "2" "241814562" "241814562" "subst" "2.03049E-5" "01943" "AGXT_000033" "g.241814562C>T" "" "" "" "AGXT(NM_000030.2):c.717C>T (p.S239=), AGXT(NM_000030.3):c.717C>T (p.S239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849823" "0" "30" "2" "241816973" "241816973" "subst" "0.000936291" "01943" "AGXT_000034" "g.241816973G>A" "" "" "" "AGXT(NM_000030.2):c.866G>A (p.R289H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849824" "0" "30" "2" "241817472" "241817472" "subst" "0.000907085" "02326" "AGXT_000035" "g.241817472G>A" "" "" "" "AGXT(NM_000030.3):c.976G>A (p.V326I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858454" "0" "30" "2" "241818201" "241818201" "subst" "0.000515773" "02326" "AGXT_000036" "g.241818201G>A" "" "" "" "AGXT(NM_000030.3):c.1142G>A (p.(Arg381Lys), p.R381K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000869990" "3" "90" "2" "241813393" "241813393" "subst" "0" "02461" "AGXT_000052" "g.241813393A>G" "" "Abid 2022, submitted" "" "" "" "Germline" "yes" "rs180177245" "0" "" "" "g.240873976A>G" "{CV:204166}" "pathogenic (recessive)" "ACMG" "0000869991" "3" "90" "2" "241810861" "241810862" "delins" "0" "02461" "AGXT_000054" "g.241810861_241810862delinsGA" "" "Abid 2022, submitted" "" "" "" "Germline" "yes" "rs180177233" "0" "" "" "g.240871444_240871445delinsGA" "{CV:204188}" "pathogenic (recessive)" "ACMG" "0000869992" "3" "90" "2" "241810861" "241810862" "delins" "0" "02461" "AGXT_000054" "g.241810861_241810862delinsGA" "" "Abid 2022, submitted" "" "519_520delCCinsGA" "" "Germline" "yes" "rs180177233" "0" "" "" "g.240871444_240871445delinsGA" "{CV:204188}" "pathogenic (recessive)" "ACMG" "0000869993" "3" "90" "2" "241808666" "241808666" "subst" "2.03173E-5" "02461" "AGXT_000055" "g.241808666G>A" "" "Abid 2022, submitted" "" "" "" "Germline" "yes" "rs121908522" "0" "" "" "" "{CV:5643}" "pathogenic" "ACMG" "0000870004" "3" "90" "2" "241817545" "241817545" "subst" "4.07558E-5" "02461" "AGXT_000023" "g.241817545G>A" "" "Abid 2022, submitted" "" "" "" "Germline" "yes" "rs180177156" "0" "" "" "" "{CV:188986}" "pathogenic (recessive)" "ACMG" "0000870035" "3" "90" "2" "241808723" "241808723" "subst" "3.26939E-5" "02461" "AGXT_000020" "g.241808723T>C" "" "Abid 2022, submitted" "" "" "" "Germline" "yes" "rs180177195" "0" "" "" "" "{CV:188866}" "pathogenic (recessive)" "ACMG" "0000870038" "3" "90" "2" "241810066" "241810066" "subst" "0" "02461" "AGXT_000012" "g.241810066C>T" "" "Abid 2022, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "" "{CV:204097}" "pathogenic (recessive)" "ACMG" "0000870039" "3" "90" "2" "241812448" "241812448" "dup" "0" "02461" "AGXT_000056" "g.241812448dup" "" "Abid 2022, submitted" "" "577dupC" "" "Germline" "yes" "rs180177241" "0" "" "" "g.240873031dup" "{CV:204192}" "pathogenic (recessive)" "ACMG" "0000870040" "3" "90" "2" "241808767" "241808767" "subst" "4.34854E-6" "02461" "AGXT_000021" "g.241808767G>A" "" "Abid 2022, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000870041" "3" "90" "2" "241818146" "241818154" "del" "0" "02461" "AGXT_000059" "g.241818146_241818154del" "" "Abid 2022, submitted" "" "1087_1095delCTGCTGGGC" "" "Germline" "yes" "" "0" "" "" "g.240878729_240878737del" "" "likely pathogenic (recessive)" "ACMG" "0000870043" "3" "90" "2" "241808315" "241808315" "dup" "0" "02461" "AGXT_000004" "g.241808315dup" "" "Abid 2022, submitted" "" "33dupC" "" "Germline" "yes" "rs180177201" "0" "" "" "g.240868898dup" "{CV:140583}" "pathogenic (recessive)" "ACMG" "0000870044" "3" "90" "2" "241812439" "241812439" "subst" "4.09108E-5" "02461" "AGXT_000038" "g.241812439G>A" "" "Abid 2022, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000870052" "3" "90" "2" "241812468" "241812468" "subst" "0" "02461" "AGXT_000039" "g.241812468T>G" "" "Abid 2022, submitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000870053" "3" "50" "2" "241816965" "241816965" "subst" "6.85899E-6" "02461" "AGXT_000040" "g.241816965C>G" "" "Abid 2022, submitted" "" "" "" "Germline" "yes" "" "" "" "" "" "" "VUS" "ACMG" "0000870054" "3" "90" "2" "241810808" "241810808" "subst" "0" "02461" "AGXT_000041" "g.241810808G>C" "" "Abid 2022, submitted" "" "" "" "Germline" "?" "rs121908530" "" "" "" "" "{CV:552979}" "pathogenic (recessive)" "ACMG" "0000870055" "3" "90" "2" "241808389" "241808389" "subst" "4.11113E-6" "02461" "AGXT_000042" "g.241808389G>A" "" "Abid 2022, submitted" "" "" "" "Germline" "" "rs180177162" "" "" "" "" "{CV:204072}" "pathogenic (recessive)" "ACMG" "0000870056" "3" "70" "2" "241818216" "241818216" "del" "0" "02461" "AGXT_000043" "g.241818216del" "" "Abid 2022, submitted" "" "1157delA" "" "Germline" "" "" "0" "" "" "g.240878799del" "" "likely pathogenic (recessive)" "ACMG" "0000870089" "11" "70" "2" "241808773" "241808773" "subst" "7.13668E-5" "02461" "AGXT_000044" "g.241808773C>T" "" "Abid 2022, submitted" "" "" "" "Germline" "?" "rs376844297" "" "" "" "" "{CV:204095}" "likely pathogenic (recessive)" "ACMG" "0000870090" "21" "70" "2" "241815402" "241815402" "subst" "0" "02461" "AGXT_000045" "g.241815402T>A" "" "Abid 2022, submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000870091" "3" "90" "2" "241808752" "241808752" "subst" "0" "02461" "AGXT_000046" "g.241808752C>T" "" "Abid 2022, submitted" "" "" "" "Germline" "?" "rs180177202" "" "" "" "" "{CV:204091}" "pathogenic (recessive)" "ACMG" "0000870093" "3" "70" "2" "241810811" "241810811" "subst" "4.47676E-6" "02461" "AGXT_000047" "g.241810811G>C" "" "Abid 2022, submitted" "" "" "" "Germline" "yes" "rs1359760798" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000870135" "3" "90" "2" "241808745" "241808745" "subst" "0" "02461" "AGXT_000048" "g.241808745G>A" "" "Abid 2022, submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000870136" "3" "90" "2" "241808747" "241808747" "subst" "0" "02461" "AGXT_000049" "g.241808747G>A" "" "Abid 2022, submitted" "" "" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000870139" "3" "70" "2" "241815354" "241815354" "subst" "0" "02461" "AGXT_000058" "g.241815354A>G" "" "Abid 2022, submitted" "" "" "" "Germline" "yes" "rs1430414907" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000870140" "3" "90" "2" "241813480" "241813480" "subst" "0" "02461" "AGXT_000057" "g.241813480G>T" "" "Abid 2022, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000870163" "3" "70" "2" "241812407" "241812407" "subst" "0" "02461" "AGXT_000051" "g.241812407T>C" "" "Abid 2022, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.240872990T>C" "" "VUS" "ACMG" "0000870164" "0" "70" "2" "241808663" "241808663" "subst" "0" "02461" "AGXT_000050" "g.241808663C>G" "" "Abid 2022, submitted" "" "" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000870165" "3" "90" "2" "241813413" "241813413" "subst" "4.06478E-6" "02461" "AGXT_000002" "g.241813413C>T" "" "Abid 2022, submitted" "" "" "" "Germline" "yes" "rs180177248" "" "" "" "" "{CV:204118}" "pathogenic (recessive)" "ACMG" "0000870166" "3" "70" "2" "241808645" "241808645" "subst" "0" "02461" "AGXT_000053" "g.241808645C>A" "" "Abid 2022, submitted" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000870182" "3" "70" "2" "241817024" "241817024" "subst" "0" "02461" "AGXT_000037" "g.241817024G>T" "" "Abid 2022, submitted" "" "" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000873525" "0" "70" "2" "241808753" "241808753" "subst" "2.92366E-5" "00000" "AGXT_000060" "g.241808753G>A" "162" "{PMID:Sun 2018:30076350}" "" "AGXT(NM_000030.2):c.332G>A (p.R111Q)/c.815_816insGA(p.S275Rfs*38)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.240869336G>A" "" "likely pathogenic" "" "0000873526" "0" "70" "2" "241815398" "241815399" "dup" "0" "00000" "AGXT_000061" "g.241815398_241815399dup" "162" "{PMID:Sun 2018:30076350}" "" "AGXT(NM_000030.2):c.332G>A (p.R111Q)/c.815_816insGA(p.S275Rfs*38)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.240875981_240875982dup" "" "likely pathogenic" "" "0000873594" "0" "70" "2" "241812428" "241812428" "subst" "0.0111028" "00000" "AGXT_000025" "g.241812428C>T" "208" "{PMID:Sun 2018:30076350}" "" "AGXT (NM_000030.2):c.557C>T (p.A186V)/c.590G>A(p.R197Q); OCRL(NM_000276.3):c.808G>A(p.D270N)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.240873011C>T" "" "likely pathogenic" "" "0000873595" "0" "70" "2" "241812461" "241812461" "subst" "0.0110696" "00000" "AGXT_000001" "g.241812461G>A" "208" "{PMID:Sun 2018:30076350}" "" "AGXT (NM_000030.2):c.557C>T (p.A186V)/c.590G>A(p.R197Q); OCRL(NM_000276.3):c.808G>A(p.D270N)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.240873044G>A" "" "likely pathogenic" "" "0000873639" "3" "70" "2" "241817511" "241817511" "del" "0" "00000" "AGXT_000062" "g.241817511del" "240" "{PMID:Sun 2018:30076350}" "" "AGXT(NM_000030.2):c.1015delG(p.V339Sfs*2)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.240878094del" "" "likely pathogenic" "" "0000881210" "11" "90" "2" "241810850" "241810850" "subst" "0.000549312" "02300" "AGXT_000010" "g.241810850G>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PS1, PS4, PP3, PP4, PP5" "Germline" "" "rs121908529" "0" "" "" "g.240871433G>A" "" "pathogenic (recessive)" "ACMG" "0000881344" "21" "90" "2" "241816951" "241816951" "subst" "4.8402E-5" "02300" "AGXT_000026" "g.241816951C>G" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PS4, PM2, PP4, PP5" "Germline" "" "rs180177286" "0" "" "" "g.240877534C>G" "" "pathogenic (recessive)" "ACMG" "0000885073" "0" "30" "2" "241810831" "241810831" "subst" "0.000201462" "02326" "AGXT_000063" "g.241810831G>A" "" "" "" "AGXT(NM_000030.3):c.489G>A (p.L163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885074" "0" "30" "2" "241812444" "241812444" "subst" "0.000208691" "02326" "AGXT_000064" "g.241812444C>T" "" "" "" "AGXT(NM_000030.3):c.573C>T (p.T191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885075" "0" "30" "2" "241814550" "241814550" "subst" "0.0036874" "02326" "AGXT_000065" "g.241814550G>A" "" "" "" "AGXT(NM_000030.3):c.705G>A (p.T235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885076" "0" "30" "2" "241815380" "241815380" "subst" "0.000203065" "02326" "AGXT_000066" "g.241815380C>T" "" "" "" "AGXT(NM_000030.3):c.805C>T (p.L269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885077" "0" "30" "2" "241816943" "241816943" "subst" "2.78854E-5" "02326" "AGXT_000067" "g.241816943C>T" "" "" "" "AGXT(NM_000030.3):c.847-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885078" "0" "30" "2" "241818115" "241818115" "subst" "0.000155341" "02326" "AGXT_000068" "g.241818115G>A" "" "" "" "AGXT(NM_000030.3):c.1072-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911656" "0" "30" "2" "241808317" "241808317" "subst" "0.000777547" "02326" "AGXT_000013" "g.241808317A>G" "" "" "" "AGXT(NM_000030.2):c.35A>G (p.K12R), AGXT(NM_000030.3):c.35A>G (p.K12R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911657" "0" "30" "2" "241814562" "241814562" "subst" "2.03049E-5" "02326" "AGXT_000033" "g.241814562C>T" "" "" "" "AGXT(NM_000030.2):c.717C>T (p.S239=), AGXT(NM_000030.3):c.717C>T (p.S239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911658" "0" "30" "2" "241815414" "241815414" "subst" "0.00271465" "02326" "AGXT_000069" "g.241815414C>T" "" "" "" "AGXT(NM_000030.3):c.839C>T (p.A280V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923667" "0" "90" "2" "241810850" "241810850" "subst" "0.000549312" "02325" "AGXT_000010" "g.241810850G>A" "" "" "" "AGXT(NM_000030.3):c.508G>A (p.(Gly170Arg), p.G170R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923668" "0" "90" "2" "241814576" "241814576" "subst" "3.655E-5" "02325" "AGXT_000070" "g.241814576T>C" "" "" "" "AGXT(NM_000030.3):c.731T>C (p.I244T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928570" "0" "90" "2" "241810850" "241810850" "subst" "0.000549312" "02326" "AGXT_000010" "g.241810850G>A" "" "" "" "AGXT(NM_000030.3):c.508G>A (p.(Gly170Arg), p.G170R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947809" "0" "90" "2" "241810796" "241810796" "subst" "8.26659E-5" "02326" "AGXT_000071" "g.241810796T>A" "" "" "" "AGXT(NM_000030.3):c.454T>A (p.F152I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947810" "0" "30" "2" "241817061" "241817061" "subst" "0.00039279" "02326" "AGXT_000072" "g.241817061C>G" "" "" "" "AGXT(NM_000030.3):c.942+12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962021" "0" "10" "2" "241813453" "241813453" "subst" "0.104664" "02327" "AGXT_000073" "g.241813453G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962022" "0" "90" "2" "241816951" "241816951" "subst" "4.8402E-5" "02326" "AGXT_000026" "g.241816951C>G" "" "" "" "AGXT(NM_000030.2):c.847-3C>G, AGXT(NM_000030.3):c.847-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975149" "0" "50" "2" "241808313" "241808313" "subst" "2.88215E-5" "01804" "AGXT_000074" "g.241808313C>A" "" "" "" "AGXT(NM_000030.3):c.31C>A (p.(Pro11Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975150" "0" "50" "2" "241808595" "241808595" "subst" "0" "01804" "AGXT_000075" "g.241808595C>A" "" "" "" "AGXT(NM_000030.3):c.174C>A (p.(Asp58Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975151" "0" "90" "2" "241810839" "241810839" "subst" "0" "01804" "AGXT_000076" "g.241810839T>C" "" "" "" "AGXT(NM_000030.3):c.497T>C (p.(Leu166Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975152" "0" "50" "2" "241817048" "241817048" "subst" "0.000194718" "01804" "AGXT_000024" "g.241817048C>T" "" "" "" "AGXT(NM_000030.2):c.941C>T (p.P314L), AGXT(NM_000030.3):c.941C>T (p.(Pro314Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975153" "0" "50" "2" "241818168" "241818168" "subst" "0" "01804" "AGXT_000077" "g.241818168G>A" "" "" "" "AGXT(NM_000030.3):c.1109G>A (p.(Arg370His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975154" "0" "50" "2" "241818185" "241818185" "subst" "3.29102E-5" "01804" "AGXT_000078" "g.241818185G>A" "" "" "" "AGXT(NM_000030.3):c.1126G>A (p.(Val376Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975155" "0" "50" "2" "241818201" "241818201" "subst" "0.000515773" "01804" "AGXT_000036" "g.241818201G>A" "" "" "" "AGXT(NM_000030.3):c.1142G>A (p.(Arg381Lys), p.R381K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975156" "0" "30" "2" "241818229" "241818229" "subst" "3.8666E-5" "02326" "AGXT_000079" "g.241818229G>A" "" "" "" "AGXT(NM_000030.3):c.1170G>A (p.K390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992746" "0" "90" "2" "241810796" "241810796" "subst" "8.26659E-5" "02327" "AGXT_000071" "g.241810796T>A" "" "" "" "AGXT(NM_000030.3):c.454T>A (p.F152I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033189" "0" "50" "2" "241808590" "241808590" "subst" "4.06322E-6" "01804" "AGXT_000080" "g.241808590A>G" "" "" "" "AGXT(NM_000030.3):c.169A>G (p.(Met57Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033190" "0" "50" "2" "241810087" "241810087" "subst" "8.32181E-5" "01804" "AGXT_000081" "g.241810087G>C" "" "" "" "AGXT(NM_000030.3):c.385G>C (p.(Asp129His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045825" "0" "50" "2" "241814588" "241814588" "subst" "8.93764E-5" "02325" "AGXT_000082" "g.241814588C>T" "" "" "" "AGXT(NM_000030.3):c.743C>T (p.A248V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049470" "21" "90" "2" "241814570" "241814570" "dup" "0" "03676" "AGXT_000083" "g.241814570dup" "" "{PMID:Soliman 2022:36151119}" "" "725dupT" "" "Germline" "yes" "" "0" "" "" "g.240875153dup" "" "pathogenic (recessive)" "" "0001049471" "3" "90" "2" "241814576" "241814576" "subst" "3.655E-5" "03676" "AGXT_000070" "g.241814576T>C" "" "{PMID:Soliman 2022:36151119}" "" "" "" "Germline" "" "" "0" "" "" "g.240875159T>C" "" "pathogenic (recessive)" "" "0001049472" "3" "90" "2" "241814576" "241814576" "subst" "3.655E-5" "03676" "AGXT_000070" "g.241814576T>C" "" "{PMID:Soliman 2022:36151119}" "" "" "" "Germline" "" "" "0" "" "" "g.240875159T>C" "" "pathogenic (recessive)" "" "0001049473" "3" "90" "2" "241814576" "241814576" "subst" "3.655E-5" "03676" "AGXT_000070" "g.241814576T>C" "" "{PMID:Soliman 2022:36151119}" "" "" "" "Germline" "" "" "0" "" "" "g.240875159T>C" "" "pathogenic (recessive)" "" "0001049474" "3" "90" "2" "241808315" "241808315" "dup" "0" "03676" "AGXT_000004" "g.241808315dup" "" "{PMID:Soliman 2022:36151119}" "" "33dupC" "" "Germline" "" "" "0" "" "" "g.240868898dup" "" "pathogenic (recessive)" "" "0001049475" "3" "90" "2" "241814576" "241814576" "subst" "3.655E-5" "03676" "AGXT_000070" "g.241814576T>C" "" "{PMID:Soliman 2022:36151119}" "" "" "" "Germline" "" "" "0" "" "" "g.240875159T>C" "" "pathogenic (recessive)" "" "0001049476" "3" "90" "2" "241808408" "241808408" "dup" "0" "03676" "AGXT_000084" "g.241808408dup" "" "{PMID:Soliman 2022:36151119}" "" "126dupG" "" "Germline" "" "" "0" "" "" "g.240868991dup" "" "pathogenic (recessive)" "" "0001049477" "3" "90" "2" "241814576" "241814576" "subst" "3.655E-5" "03676" "AGXT_000070" "g.241814576T>C" "" "{PMID:Soliman 2022:36151119}" "" "" "" "Germline" "" "" "0" "" "" "g.240875159T>C" "" "pathogenic (recessive)" "" "0001049478" "3" "90" "2" "241814570" "241814570" "dup" "0" "03676" "AGXT_000083" "g.241814570dup" "" "{PMID:Soliman 2022:36151119}" "" "725dupT" "" "Germline" "" "" "0" "" "" "g.240875153dup" "" "pathogenic (recessive)" "" "0001049479" "3" "90" "2" "241808315" "241808315" "dup" "0" "03676" "AGXT_000004" "g.241808315dup" "" "{PMID:Soliman 2022:36151119}" "" "33dupC" "" "Germline" "" "" "0" "" "" "g.240868898dup" "" "pathogenic (recessive)" "" "0001049480" "3" "90" "2" "241808408" "241808408" "dup" "0" "03676" "AGXT_000084" "g.241808408dup" "" "{PMID:Soliman 2022:36151119}" "" "126dupG" "" "Germline" "" "" "0" "" "" "g.240868991dup" "" "pathogenic (recessive)" "" "0001049481" "3" "90" "2" "241813402" "241813402" "subst" "1.2195E-5" "03676" "AGXT_000087" "g.241813402C>A" "" "{PMID:Soliman 2022:36151119}" "" "" "" "Germline" "" "" "0" "" "" "g.240873985C>A" "" "pathogenic (recessive)" "" "0001049482" "3" "90" "2" "241813402" "241813402" "subst" "1.2195E-5" "03676" "AGXT_000087" "g.241813402C>A" "" "{PMID:Soliman 2022:36151119}" "" "" "" "Germline" "" "" "0" "" "" "g.240873985C>A" "" "pathogenic (recessive)" "" "0001049483" "3" "90" "2" "241808713" "241808713" "subst" "0" "03676" "AGXT_000086" "g.241808713G>C" "" "{PMID:Soliman 2022:36151119}" "" "" "" "Germline" "" "" "0" "" "" "g.240869296G>C" "" "pathogenic (recessive)" "" "0001049484" "3" "90" "2" "241808315" "241808315" "dup" "0" "03676" "AGXT_000004" "g.241808315dup" "" "{PMID:Soliman 2022:36151119}" "" "33dupC" "" "Germline" "" "" "0" "" "" "g.240868898dup" "" "pathogenic (recessive)" "" "0001049485" "3" "90" "2" "241808609" "241808609" "subst" "4.06227E-6" "03676" "AGXT_000085" "g.241808609G>A" "" "{PMID:Soliman 2022:36151119}" "" "" "" "Germline" "" "" "0" "" "" "g.240869192G>A" "" "pathogenic (recessive)" "" "0001049486" "11" "90" "2" "241808586" "241808593" "dup" "0" "03676" "AGXT_000027" "g.241808586_241808593dup" "" "{PMID:Soliman 2022:36151119}" "" "166-1_172dupGATCATGG" "" "Germline" "" "" "0" "" "" "g.240869169_240869176dup" "" "pathogenic (recessive)" "" "0001049487" "3" "90" "2" "241808315" "241808315" "dup" "0" "03676" "AGXT_000004" "g.241808315dup" "" "{PMID:Soliman 2022:36151119}" "" "33dupC" "" "Germline" "" "" "0" "" "" "g.240868898dup" "" "pathogenic (recessive)" "" "0001049488" "3" "90" "2" "241813402" "241813402" "subst" "1.2195E-5" "03676" "AGXT_000087" "g.241813402C>A" "" "{PMID:Soliman 2022:36151119}" "" "" "" "Germline" "" "" "0" "" "" "g.240873985C>A" "" "pathogenic (recessive)" "" "0001049489" "21" "90" "2" "241814570" "241814570" "dup" "0" "03676" "AGXT_000083" "g.241814570dup" "" "{PMID:Soliman 2022:36151119}" "" "725dupT" "" "Germline" "" "" "0" "" "" "g.240875153dup" "" "pathogenic (recessive)" "" "0001051178" "0" "90" "2" "241810850" "241810850" "subst" "0.000549312" "01804" "AGXT_000010" "g.241810850G>A" "" "" "" "AGXT(NM_000030.3):c.508G>A (p.(Gly170Arg), p.G170R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001051179" "0" "50" "2" "241815397" "241815397" "subst" "4.46802E-5" "01804" "AGXT_000088" "g.241815397G>C" "" "" "" "AGXT(NM_000030.3):c.822G>C (p.(Glu274Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes AGXT ## Count = 118 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000000840" "00000073" "50" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Arg197Gln)" "" "0000000841" "00000073" "50" "614" "0" "614" "0" "c.614C>T" "r.(?)" "p.(Ser205Leu)" "" "0000000842" "00000073" "50" "26" "0" "26" "0" "c.26C>A" "r.(?)" "p.(Thr9Asn)" "" "0000000843" "00000073" "50" "26" "0" "26" "0" "c.26C>A" "r.(?)" "p.(Thr9Asn)" "" "0000000844" "00000073" "50" "26" "0" "26" "0" "c.26C>A" "r.(?)" "p.(Thr9Asn)" "" "0000000845" "00000073" "50" "26" "0" "26" "0" "c.26C>A" "r.(?)" "p.(Thr9Asn)" "" "0000037583" "00000073" "50" "33" "0" "33" "0" "c.33dup" "r.(?)" "p.(Lys12Glnfs*156)" "" "0000337612" "00000073" "10" "358" "13" "358" "13" "c.358+13C>T" "r.(=)" "p.(=)" "" "0000340667" "00000073" "10" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(Ala88=)" "" "0000345785" "00000073" "90" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Gly170Arg)" "" "0000435005" "00000073" "90" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122*)" "?" "0000515397" "00000073" "30" "35" "0" "35" "0" "c.35A>G" "r.(?)" "p.(Lys12Arg)" "" "0000515399" "00000073" "50" "165" "0" "165" "0" "c.165G>C" "r.(?)" "p.(Gln55His)" "" "0000515400" "00000073" "10" "165" "16" "165" "16" "c.165+16A>G" "r.(=)" "p.(=)" "" "0000515401" "00000073" "10" "680" "17" "680" "17" "c.680+17C>T" "r.(=)" "p.(=)" "" "0000515402" "00000073" "10" "681" "-94" "681" "-94" "c.681-94G>A" "r.(=)" "p.(=)" "" "0000650521" "00000073" "70" "302" "0" "302" "0" "c.302T>C" "r.(?)" "p.(Leu101Pro)" "" "0000650522" "00000073" "70" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Gly116Arg)" "" "0000650523" "00000073" "70" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Ser187Phe)" "" "0000650524" "00000073" "70" "1049" "0" "1049" "0" "c.1049G>A" "r.(?)" "p.(Gly350Asp)" "" "0000676588" "00000073" "30" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Pro314Leu)" "" "0000688718" "00000073" "10" "557" "0" "557" "0" "c.557C>T" "r.(?)" "p.(Ala186Val)" "" "0000688719" "00000073" "50" "847" "-3" "847" "-3" "c.847-3C>G" "r.spl?" "p.?" "" "0000718681" "00000073" "90" "33" "0" "33" "0" "c.33dup" "r.(?)" "p.(Lys12GlnfsTer156)" "" "0000763697" "00000073" "90" "166" "-1" "172" "0" "c.166-1_172dup" "r.spl?" "p.(Asp58GlyfsTer65)" "1i_2" "0000763698" "00000073" "90" "766" "0" "766" "0" "c.766del" "r.(?)" "p.(Gln256SerfsTer17)" "7" "0000849821" "00000073" "30" "359" "-3" "359" "-3" "c.359-3C>A" "r.spl?" "p.?" "" "0000849822" "00000073" "30" "717" "0" "717" "0" "c.717C>T" "r.(?)" "p.(Ser239=)" "" "0000849823" "00000073" "30" "866" "0" "866" "0" "c.866G>A" "r.(?)" "p.(Arg289His)" "" "0000849824" "00000073" "30" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Val326Ile)" "" "0000858454" "00000073" "30" "1142" "0" "1142" "0" "c.1142G>A" "r.(?)" "p.(Arg381Lys)" "" "0000869990" "00000073" "90" "596" "-2" "596" "-2" "c.596-2A>G" "r.spl" "p.?" "" "0000869991" "00000073" "90" "519" "0" "520" "0" "c.519_520delinsGA" "r.(?)" "p.(Cys173_His174delinsTrpAsn)" "" "0000869992" "00000073" "90" "519" "0" "520" "0" "c.519_520delinsGA" "r.(?)" "p.(Cys173_His174delinsTrpAsn)" "4" "0000869993" "00000073" "90" "245" "0" "245" "0" "c.245G>A" "r.(?)" "p.(Gly82Glu)" "2" "0000870004" "00000073" "90" "1049" "0" "1049" "0" "c.1049G>A" "r.(?)" "p.(Gly350Asp)" "10" "0000870035" "00000073" "90" "302" "0" "302" "0" "c.302T>C" "r.(?)" "p.(Leu101Pro)" "2" "0000870038" "00000073" "90" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122*)" "3" "0000870039" "00000073" "90" "577" "0" "577" "0" "c.577dup" "r.(?)" "p.(Leu193Profs*32)" "5" "0000870040" "00000073" "90" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(Gly116Arg)" "2" "0000870041" "00000073" "90" "1087" "0" "1095" "0" "c.1087_1095del" "r.(?)" "p.(Leu363_Gly365del)" "11" "0000870043" "00000073" "90" "33" "0" "33" "0" "c.33dup" "r.(?)" "p.(Lys12Glnfs*156)" "1" "0000870044" "00000073" "90" "568" "0" "568" "0" "c.568G>A" "r.(?)" "p.(Gly190Arg)" "5" "0000870052" "00000073" "90" "595" "2" "595" "2" "c.595+2T>G" "r.spl" "p.?" "5" "0000870053" "00000073" "50" "858" "0" "858" "0" "c.858C>G" "r.(?)" "p.(Asn286Lys)" "9" "0000870054" "00000073" "90" "466" "0" "466" "0" "c.466G>C" "r.(?)" "p.(Gly156Arg)" "4" "0000870055" "00000073" "90" "107" "0" "107" "0" "c.107G>A" "r.(?)" "p.(Arg36His)" "1" "0000870056" "00000073" "70" "1157" "0" "1157" "0" "c.1157del" "r.(?)" "p.(His386Profs*?)" "11" "0000870089" "00000073" "70" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Arg118Cys)" "2" "0000870090" "00000073" "70" "827" "0" "827" "0" "c.827T>A" "r.(?)" "p.(Leu276Gln)" "8" "0000870091" "00000073" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111*)" "2" "0000870093" "00000073" "70" "469" "0" "469" "0" "c.469G>C" "r.(?)" "p.(Glu157Gln)" "4" "0000870135" "00000073" "90" "324" "0" "324" "0" "c.324G>A" "r.(?)" "p.(Trp108*)" "2" "0000870136" "00000073" "90" "326" "0" "326" "0" "c.326G>A" "r.(?)" "p.(Gly109Glu)" "2" "0000870139" "00000073" "70" "779" "0" "779" "0" "c.779A>G" "r.(?)" "p.(Tyr260Cys)" "8" "0000870140" "00000073" "90" "680" "1" "680" "1" "c.680+1G>T" "r.spl" "p.?" "6" "0000870163" "00000073" "70" "536" "0" "536" "0" "c.536T>C" "r.(?)" "p.(Leu179Pro)" "5" "0000870164" "00000073" "70" "242" "0" "242" "0" "c.242C>G" "r.(?)" "p.(Ser81Trp)" "2" "0000870165" "00000073" "90" "614" "0" "614" "0" "c.614C>T" "r.(?)" "p.(Ser205Leu)" "6" "0000870166" "00000073" "70" "224" "0" "224" "0" "c.224C>A" "r.(?)" "p.(Thr75Lys)" "2" "0000870182" "00000073" "70" "917" "0" "917" "0" "c.917G>T" "r.(?)" "p.(Gly306Val)" "9" "0000873525" "00000073" "70" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Arg111Gln)" "" "0000873526" "00000073" "70" "823" "0" "824" "0" "c.823_824dup" "r.(?)" "p.(Ser275Argfs*38)" "" "0000873594" "00000073" "70" "557" "0" "557" "0" "c.557C>T" "r.(?)" "p.(Ala186Val)" "" "0000873595" "00000073" "70" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Arg197Gln)" "" "0000873639" "00000073" "70" "1015" "0" "1015" "0" "c.1015del" "r.(?)" "p.(Val339Serfs*2)" "" "0000881210" "00000073" "90" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Gly170Arg)" "" "0000881344" "00000073" "90" "847" "-3" "847" "-3" "c.847-3C>G" "r.spl" "p.?" "" "0000885073" "00000073" "30" "489" "0" "489" "0" "c.489G>A" "r.(?)" "p.(Leu163=)" "" "0000885074" "00000073" "30" "573" "0" "573" "0" "c.573C>T" "r.(?)" "p.(Thr191=)" "" "0000885075" "00000073" "30" "705" "0" "705" "0" "c.705G>A" "r.(?)" "p.(Thr235=)" "" "0000885076" "00000073" "30" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Leu269=)" "" "0000885077" "00000073" "30" "847" "-11" "847" "-11" "c.847-11C>T" "r.(=)" "p.(=)" "" "0000885078" "00000073" "30" "1072" "-16" "1072" "-16" "c.1072-16G>A" "r.(=)" "p.(=)" "" "0000911656" "00000073" "30" "35" "0" "35" "0" "c.35A>G" "r.(?)" "p.(Lys12Arg)" "" "0000911657" "00000073" "30" "717" "0" "717" "0" "c.717C>T" "r.(?)" "p.(Ser239=)" "" "0000911658" "00000073" "30" "839" "0" "839" "0" "c.839C>T" "r.(?)" "p.(Ala280Val)" "" "0000923667" "00000073" "90" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Gly170Arg)" "" "0000923668" "00000073" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Ile244Thr)" "" "0000928570" "00000073" "90" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Gly170Arg)" "" "0000947809" "00000073" "90" "454" "0" "454" "0" "c.454T>A" "r.(?)" "p.(Phe152Ile)" "" "0000947810" "00000073" "30" "942" "12" "942" "12" "c.942+12C>G" "r.(=)" "p.(=)" "" "0000962021" "00000073" "10" "654" "0" "654" "0" "c.654G>A" "r.(?)" "p.(=)" "" "0000962022" "00000073" "90" "847" "-3" "847" "-3" "c.847-3C>G" "r.spl?" "p.?" "" "0000975149" "00000073" "50" "31" "0" "31" "0" "c.31C>A" "r.(?)" "p.(Pro11Thr)" "" "0000975150" "00000073" "50" "174" "0" "174" "0" "c.174C>A" "r.(?)" "p.(Asp58Glu)" "" "0000975151" "00000073" "90" "497" "0" "497" "0" "c.497T>C" "r.(?)" "p.(Leu166Pro)" "" "0000975152" "00000073" "50" "941" "0" "941" "0" "c.941C>T" "r.(?)" "p.(Pro314Leu)" "" "0000975153" "00000073" "50" "1109" "0" "1109" "0" "c.1109G>A" "r.(?)" "p.(Arg370His)" "" "0000975154" "00000073" "50" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Val376Met)" "" "0000975155" "00000073" "50" "1142" "0" "1142" "0" "c.1142G>A" "r.(?)" "p.(Arg381Lys)" "" "0000975156" "00000073" "30" "1170" "0" "1170" "0" "c.1170G>A" "r.(?)" "p.(=)" "" "0000992746" "00000073" "90" "454" "0" "454" "0" "c.454T>A" "r.(?)" "p.(Phe152Ile)" "" "0001033189" "00000073" "50" "169" "0" "169" "0" "c.169A>G" "r.(?)" "p.(Met57Val)" "" "0001033190" "00000073" "50" "385" "0" "385" "0" "c.385G>C" "r.(?)" "p.(Asp129His)" "" "0001045825" "00000073" "50" "743" "0" "743" "0" "c.743C>T" "r.(?)" "p.(Ala248Val)" "" "0001049470" "00000073" "90" "725" "0" "725" "0" "c.725dup" "r.(?)" "p.(Asp243GlyfsTer12)" "7" "0001049471" "00000073" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Ile244Thr)" "7" "0001049472" "00000073" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Ile244Thr)" "7" "0001049473" "00000073" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Ile244Thr)" "7" "0001049474" "00000073" "90" "33" "0" "33" "0" "c.33dup" "r.(?)" "p.(Lys12GlnfsTer156)" "1" "0001049475" "00000073" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Ile244Thr)" "7" "0001049476" "00000073" "90" "126" "0" "126" "0" "c.126dup" "r.(?)" "p.(Leu43AlafsTer125)" "1" "0001049477" "00000073" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Ile244Thr)" "7" "0001049478" "00000073" "90" "725" "0" "725" "0" "c.725dup" "r.(?)" "p.(Asp243GlyfsTer12)" "7" "0001049479" "00000073" "90" "33" "0" "33" "0" "c.33dup" "r.(?)" "p.(Lys12GlnfsTer156)" "1" "0001049480" "00000073" "90" "126" "0" "126" "0" "c.126dup" "r.(?)" "p.(Leu43AlafsTer125)" "1" "0001049481" "00000073" "90" "603" "0" "603" "0" "c.603C>A" "r.(?)" "p.(Asp201Glu)" "6" "0001049482" "00000073" "90" "603" "0" "603" "0" "c.603C>A" "r.(?)" "p.(Asp201Glu)" "6" "0001049483" "00000073" "90" "292" "0" "292" "0" "c.292G>C" "r.(?)" "p.(Asp98His)" "2" "0001049484" "00000073" "90" "33" "0" "33" "0" "c.33dup" "r.(?)" "p.(Lys12GlnfsTer156)" "1" "0001049485" "00000073" "90" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Gly63Asp)" "2" "0001049486" "00000073" "90" "166" "-1" "172" "0" "c.166-1_172dup" "r.spl?" "p.(Asp58GlyfsTer65)" "1i_2" "0001049487" "00000073" "90" "33" "0" "33" "0" "c.33dup" "r.(?)" "p.(Lys12GlnfsTer156)" "1" "0001049488" "00000073" "90" "603" "0" "603" "0" "c.603C>A" "r.(?)" "p.(Asp201Glu)" "6" "0001049489" "00000073" "90" "725" "0" "725" "0" "c.725dup" "r.(?)" "p.(Asp243GlyfsTer12)" "7" "0001051178" "00000073" "90" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Gly170Arg)" "" "0001051179" "00000073" "50" "822" "0" "822" "0" "c.822G>C" "r.(?)" "p.(Glu274Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 71 "{{screeningid}}" "{{variantid}}" "0000000046" "0000000845" "0000000051" "0000000844" "0000000055" "0000000842" "0000000062" "0000000841" "0000000074" "0000000840" "0000000077" "0000000843" "0000017582" "0000037583" "0000205607" "0000435005" "0000293832" "0000650521" "0000293833" "0000650522" "0000293834" "0000650523" "0000293835" "0000650524" "0000363240" "0000763697" "0000363240" "0001049470" "0000363241" "0000763698" "0000412633" "0000869990" "0000412634" "0000869991" "0000412635" "0000869992" "0000412636" "0000869993" "0000412647" "0000870004" "0000412648" "0000870035" "0000412679" "0000870038" "0000412682" "0000870039" "0000412683" "0000870040" "0000412684" "0000870041" "0000412686" "0000870043" "0000412687" "0000870044" "0000412691" "0000870052" "0000412692" "0000870053" "0000412693" "0000870054" "0000412694" "0000870055" "0000412695" "0000870056" "0000412726" "0000870089" "0000412726" "0000870090" "0000412727" "0000870091" "0000412728" "0000870093" "0000412766" "0000870135" "0000412771" "0000870136" "0000412774" "0000870139" "0000412775" "0000870140" "0000412798" "0000870163" "0000412799" "0000870164" "0000412800" "0000870165" "0000412801" "0000870166" "0000412816" "0000870182" "0000415675" "0000873525" "0000415675" "0000873526" "0000415721" "0000873594" "0000415721" "0000873595" "0000415753" "0000873639" "0000420851" "0000881210" "0000420851" "0000881344" "0000469236" "0001049471" "0000469237" "0001049472" "0000469238" "0001049473" "0000469239" "0001049474" "0000469240" "0001049475" "0000469241" "0001049476" "0000469242" "0001049477" "0000469243" "0001049478" "0000469244" "0001049479" "0000469245" "0001049480" "0000469246" "0001049481" "0000469247" "0001049482" "0000469248" "0001049483" "0000469249" "0001049484" "0000469250" "0001049485" "0000469251" "0001049486" "0000469251" "0001049489" "0000469252" "0001049487" "0000469253" "0001049488"