### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PEX2) # 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}}" "PEX2" "peroxisomal biogenesis factor 2" "8" "q21.11" "unknown" "NG_008371.1" "UD_132118295799" "" "https://www.LOVD.nl/PEX2" "" "1" "9717" "5828" "170993" "1" "1" "1" "1" " This database is one of the dbPEX gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PEX2_codingDNA.html" "1" "" " This database is one of the dbPEX gene variant databases.\r\n
\r\n
" "-1" "" "-1" "00001" "2006-05-07 00:00:00" "00006" "2020-09-10 16:26:11" "00000" "2025-05-05 21:14:00" ## 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}}" "00015983" "PEX2" "transcript variant 1" "004" "NM_000318.2" "" "NP_000309.1" "" "" "" "-458" "3921" "918" "77912524" "77892494" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03759" "PBD5A" "peroxisome biogenesis disorder, type 5A (PBD-5A)" "AR" "614866" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03760" "PBD5B" "peroxisome biogenesis disorder, type 5B (PBD-5B)" "AR" "614867" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05079" "PBD" "peroxisome biogenesis disorder (Zellweger syndrome)" "PG" "" "" "" "" "00006" "2015-09-25 13:40:55" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PEX2" "03759" "PEX2" "03760" ## Individuals ## Do not remove or alter this header ## ## Count = 31 "{{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}}" "00294668" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295225" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309953" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "United States" "" "0" "" "" "" "Pat637" "00309954" "" "" "" "1" "" "02015" "{PMID:Gootjes 2004:14630978}" "" "" "" "" "" "0" "" "" "" "Pat3" "00309955" "" "" "" "1" "" "02015" "{PMID:Shimozawa 1992:1546315}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Japan" "" "0" "" "" "" "PatMM/F-01" "00309956" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "United States" "" "0" "" "" "" "Pat628" "00309957" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "United States" "" "0" "" "" "" "Pat657" "00309958" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "United States" "" "0" "" "" "" "Pat661" "00309959" "" "" "" "1" "" "02015" "{PMID:Shimozawa 1998:9452066}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Japan" "" "0" "" "" "" "patient" "00309960" "" "" "" "1" "" "02015" "{PMID:Imamura 1998:9585609}" "" "" "" "Japan" "" "0" "" "" "" "PatF-05" "00309961" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "United States" "" "0" "" "" "" "Pat639" "00309962" "" "" "" "1" "" "00006" "{PMID:Shimozawa 1993:7681622}" "" "" "" "Netherlands" "" "0" "" "" "" "Z3" "00309963" "" "" "" "1" "" "02015" "{PMID:Shimozawa 2000:10652207}" "" "" "" "Japan" "" "0" "" "" "" "PatF-06" "00309964" "" "" "" "1" "" "02015" "{PMID:Shimozawa 2000:10652207}" "" "" "" "Japan" "" "0" "" "" "" "PatF-08" "00309965" "" "" "" "1" "" "02015" "{PMID:Gootjes 2004:14630978}" "" "" "" "" "" "0" "" "" "" "Pat4" "00309966" "" "" "" "1" "" "02015" "{PMID:Gootjes 2004:14630978}" "" "" "" "" "" "0" "" "" "" "Pat2" "00309967" "" "" "" "1" "" "02015" "{PMID:Gootjes 2004:14630978}" "" "" "" "" "" "0" "" "" "" "Pat1" "00309968" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "control" "00309969" "" "" "" "1" "" "02015" "{PMID:Krause 2006:17041890}" "" "F" "" "Turkey" "00y02m" "0" "" "" "" "PBD-HR1" "00309970" "" "" "" "2" "" "02015" "{PMID:Krause 2006:17041890}" "2 patients (F, M)" "F;M" "" "Turkey" "" "0" "" "" "" "PBD-HR2/3" "00309971" "" "" "" "1" "" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00309972" "" "" "" "1" "" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00309973" "" "" "" "1" "" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00309974" "" "" "" "1" "" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00309975" "" "" "" "1" "" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00309976" "" "" "" "1" "" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00309977" "" "" "" "1" "" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00309978" "" "" "" "1" "" "00006" "{PMID:Sevin 2011:21392394}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier mother" "M" "no" "France" "" "0" "" "" "" "Pat1/2" "00309979" "" "" "" "1" "" "00006" "{PMID:Mignarri 2012:23430938}" "" "M" "" "Italy" "" "0" "" "" "" "patient" "00310099" "" "" "" "1" "" "00006" "{PMID:Konkolova 2015:26094004}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "Slovakia (Slovak Republic)" "" "0" "" "" "white" "patient" "00373510" "" "" "" "1" "" "00000" "{PMID:Liu 2015:25611614}" "" "" "" "China" "" "0" "" "" "" "RH16" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 31 "{{individualid}}" "{{diseaseid}}" "00294668" "00198" "00295225" "00198" "00309953" "05079" "00309954" "05079" "00309955" "05079" "00309956" "05079" "00309957" "05079" "00309958" "05079" "00309959" "05079" "00309960" "05079" "00309961" "05079" "00309962" "05079" "00309963" "05079" "00309964" "05079" "00309965" "05079" "00309966" "05079" "00309967" "05079" "00309968" "00000" "00309969" "05079" "00309970" "05079" "00309971" "05079" "00309972" "05079" "00309973" "05079" "00309974" "05079" "00309975" "05079" "00309976" "05079" "00309977" "05079" "00309978" "00198" "00309979" "00198" "00310099" "05079" "00373510" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 03759, 03760, 04214, 05079 ## Count = 28 "{{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}}" "0000235270" "05079" "00309953" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235271" "05079" "00309954" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235272" "05079" "00309955" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235273" "05079" "00309956" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235274" "05079" "00309957" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235275" "05079" "00309958" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235276" "05079" "00309959" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235277" "05079" "00309960" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235278" "05079" "00309961" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235279" "05079" "00309962" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235280" "05079" "00309963" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235281" "05079" "00309964" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235282" "05079" "00309965" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235283" "05079" "00309966" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235284" "05079" "00309967" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235285" "05079" "00309969" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235286" "05079" "00309970" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235287" "05079" "00309971" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235288" "05079" "00309972" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235289" "05079" "00309973" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235290" "05079" "00309974" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235291" "05079" "00309975" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235292" "05079" "00309976" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235293" "05079" "00309977" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235294" "00198" "00309978" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cerebellar ataxia" "" "0000235295" "00198" "00309979" "00006" "Familial, autosomal recessive" "" "see paper; ..., childhood-onset cerebellar ataxia and an axonal sensorimotor polyneuropathy" "" "" "" "" "" "" "" "" "" "cerebellar ataxia" "" "0000235410" "05079" "00310099" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000268786" "04214" "00373510" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, macula degeneration" "" ## Screenings ## Do not remove or alter this header ## ## Count = 31 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000295836" "00294668" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296393" "00295225" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000311101" "00309953" "1" "02015" "00006" "2006-05-07 19:48:00" "" "" "SEQ" "DNA" "" "" "0000311102" "00309954" "1" "02015" "00006" "2006-05-07 19:48:00" "" "" "SEQ" "DNA" "" "" "0000311103" "00309955" "1" "02015" "00006" "2006-05-07 19:48:00" "" "" "SEQ" "DNA" "" "" "0000311104" "00309956" "1" "02015" "00006" "2006-05-07 19:48:00" "" "" "SEQ" "DNA" "" "" "0000311105" "00309957" "1" "02015" "00006" "2006-05-07 19:48:00" "" "" "SEQ" "DNA" "" "" "0000311106" "00309958" "1" "02015" "00006" "2006-05-07 19:48:00" "" "" "SEQ" "DNA" "" "" "0000311107" "00309959" "1" "02015" "00006" "2006-05-07 19:48:00" "" "" "SEQ" "DNA" "" "" "0000311108" "00309960" "1" "02015" "00006" "2006-05-07 19:48:00" "00006" "2020-09-07 15:46:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311109" "00309961" "1" "02015" "00006" "2006-05-07 19:48:00" "" "" "SEQ" "DNA" "" "" "0000311110" "00309962" "1" "00006" "00006" "2006-05-07 19:48:00" "00006" "2020-09-07 15:51:22" "SEQ" "DNA" "" "" "0000311111" "00309963" "1" "02015" "00006" "2006-05-07 19:48:00" "" "" "SEQ" "DNA" "" "" "0000311112" "00309964" "1" "02015" "00006" "2006-05-07 19:48:00" "" "" "SEQ" "DNA" "" "" "0000311113" "00309965" "1" "02015" "00006" "2006-05-07 19:48:00" "" "" "SEQ" "DNA" "" "" "0000311114" "00309966" "1" "02015" "00006" "2006-05-07 19:48:00" "" "" "SEQ" "DNA" "" "" "0000311115" "00309967" "1" "02015" "00006" "2006-05-07 19:48:00" "" "" "SEQ" "DNA" "" "" "0000311116" "00309968" "1" "02015" "00006" "2006-10-27 07:05:00" "" "" "SEQ" "DNA" "" "" "0000311117" "00309969" "1" "02015" "00006" "2006-12-03 17:34:00" "" "" "SEQ" "DNA" "" "" "0000311118" "00309970" "1" "02015" "00006" "2006-12-03 17:38:00" "" "" "SEQ" "DNA" "" "" "0000311119" "00309971" "1" "03774" "00006" "2012-05-04 10:20:45" "" "" "SEQ" "DNA" "" "" "0000311120" "00309972" "1" "03774" "00006" "2012-05-04 10:24:23" "" "" "SEQ" "DNA" "" "" "0000311121" "00309973" "1" "03774" "00006" "2012-05-04 10:29:49" "" "" "SEQ" "DNA" "" "" "0000311122" "00309974" "1" "03774" "00006" "2012-05-04 10:27:02" "" "" "SEQ" "DNA" "" "" "0000311123" "00309975" "1" "03774" "00006" "2012-05-04 10:32:11" "" "" "SEQ" "DNA" "" "" "0000311124" "00309976" "1" "03774" "00006" "2012-05-04 10:34:13" "" "" "SEQ" "DNA" "" "" "0000311125" "00309977" "1" "03774" "00006" "2012-05-04 10:37:41" "" "" "SEQ" "DNA" "" "" "0000311126" "00309978" "1" "00006" "00006" "2020-09-07 16:37:41" "" "" "SEQ" "DNA" "" "PEX gene panel" "0000311127" "00309979" "1" "00006" "00006" "2020-09-07 16:41:59" "" "" "SEQ" "DNA" "" "" "0000311247" "00310099" "1" "00006" "00006" "2020-09-08 16:27:06" "" "" "SEQ" "DNA" "" "" "0000374745" "00373510" "1" "00000" "00006" "2021-05-14 19:24:06" "" "" "SEQ-NG" "DNA" "" "316-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{geneid}}" "0000311101" "PEX2" "0000311102" "PEX2" "0000311103" "PEX2" "0000311104" "PEX2" "0000311105" "PEX2" "0000311106" "PEX2" "0000311107" "PEX2" "0000311108" "PEX2" "0000311109" "PEX2" "0000311110" "PEX2" "0000311111" "PEX2" "0000311112" "PEX2" "0000311113" "PEX2" "0000311114" "PEX2" "0000311115" "PEX2" "0000311116" "PEX2" "0000311117" "PEX2" "0000311118" "PEX2" "0000311119" "PEX2" "0000311120" "PEX2" "0000311121" "PEX2" "0000311122" "PEX2" "0000311123" "PEX2" "0000311124" "PEX2" "0000311125" "PEX2" "0000311126" "PEX2" "0000311127" "PEX2" "0000311247" "PEX12" "0000374745" "ABCA4" ## 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 = 67 "{{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}}" "0000248742" "0" "10" "8" "77895865" "77895865" "subst" "0.987177" "02325" "PEX2_000024" "g.77895865A>G" "" "" "" "PEX2(NM_001172086.2):c.550T>C (p.C184R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76983629A>G" "" "benign" "" "0000254665" "0" "30" "8" "77895830" "77895830" "subst" "0" "01943" "PEX2_000023" "g.77895830A>T" "" "" "" "PEX2(NM_001172086.1):c.585T>A (p.L195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76983594A>T" "" "likely benign" "" "0000293689" "0" "10" "8" "77896428" "77896428" "del" "0" "02330" "PEX2_000029" "g.77896428del" "" "" "" "PEX2(NM_001172086.2):c.-13delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76984192del" "" "benign" "" "0000293690" "0" "10" "8" "77896042" "77896042" "subst" "4.0626E-6" "02330" "PEX2_000025" "g.77896042G>T" "" "" "" "PEX2(NM_001172086.2):c.373C>A (p.R125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76983806G>T" "" "benign" "" "0000293691" "0" "30" "8" "77896324" "77896324" "subst" "0.00258708" "02330" "PEX2_000028" "g.77896324G>C" "" "" "" "PEX2(NM_001172086.1):c.91C>G (p.Q31E), PEX2(NM_001172086.2):c.91C>G (p.Q31E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76984088G>C" "" "likely benign" "" "0000305486" "0" "90" "8" "77912225" "77912225" "subst" "0" "01943" "PEX2_000030" "g.77912225C>T" "" "" "" "PEX2(NM_001172086.1):c.-160+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76999989C>T" "" "pathogenic" "" "0000305487" "0" "50" "8" "77896206" "77896206" "subst" "0.000564646" "01943" "PEX2_000027" "g.77896206T>C" "" "" "" "PEX2(NM_001172086.1):c.209A>G (p.Y70C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76983970T>C" "" "VUS" "" "0000305488" "0" "50" "8" "77896133" "77896133" "subst" "0.000446849" "01943" "PEX2_000026" "g.77896133T>A" "" "" "" "PEX2(NM_000318.2):c.282A>T (p.(Arg94Ser)), PEX2(NM_001172086.1):c.282A>T (p.R94S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76983897T>A" "" "VUS" "" "0000305489" "0" "30" "8" "77895717" "77895717" "subst" "0.000195157" "01943" "PEX2_000022" "g.77895717C>T" "" "" "" "PEX2(NM_001172086.1):c.698G>A (p.S233N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76983481C>T" "" "likely benign" "" "0000332184" "0" "30" "8" "77895667" "77895667" "subst" "0.00526247" "01804" "PEX2_000042" "g.77895667A>G" "" "" "" "PEX2(NM_000318.2):c.748T>C (p.(Trp250Arg)), PEX2(NM_001172086.1):c.748T>C (p.W250R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76983431A>G" "" "likely benign" "" "0000347077" "0" "50" "8" "77895546" "77895546" "subst" "2.03457E-5" "02327" "PEX2_000031" "g.77895546A>C" "" "" "" "PEX2(NM_001172086.1):c.869T>G (p.L290R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76983310A>C" "" "VUS" "" "0000350180" "0" "50" "8" "77896206" "77896206" "subst" "0.000564646" "02327" "PEX2_000027" "g.77896206T>C" "" "" "" "PEX2(NM_001172086.1):c.209A>G (p.Y70C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76983970T>C" "" "VUS" "" "0000535341" "0" "30" "8" "77895595" "77895595" "subst" "0" "01943" "PEX2_000033" "g.77895595A>G" "" "" "" "PEX2(NM_001172086.1):c.820T>C (p.F274L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76983359A>G" "" "likely benign" "" "0000535342" "0" "30" "8" "77895667" "77895667" "subst" "0.00526247" "01943" "PEX2_000042" "g.77895667A>G" "" "" "" "PEX2(NM_000318.2):c.748T>C (p.(Trp250Arg)), PEX2(NM_001172086.1):c.748T>C (p.W250R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76983431A>G" "" "likely benign" "" "0000535343" "0" "30" "8" "77896093" "77896093" "subst" "7.31143E-5" "01943" "PEX2_000034" "g.77896093C>G" "" "" "" "PEX2(NM_001172086.1):c.322G>C (p.V108L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76983857C>G" "" "likely benign" "" "0000535344" "0" "70" "8" "77896129" "77896129" "subst" "0" "01804" "PEX2_000035" "g.77896129G>A" "" "" "" "PEX2(NM_000318.2):c.286C>T (p.(Gln96Ter)), PEX2(NM_001172086.1):c.286C>T (p.Q96*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76983893G>A" "" "likely pathogenic" "" "0000535345" "0" "30" "8" "77896133" "77896133" "subst" "0.000446849" "01804" "PEX2_000026" "g.77896133T>A" "" "" "" "PEX2(NM_000318.2):c.282A>T (p.(Arg94Ser)), PEX2(NM_001172086.1):c.282A>T (p.R94S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76983897T>A" "" "likely benign" "" "0000611712" "0" "50" "8" "77896354" "77896354" "subst" "0" "02325" "PEX2_000039" "g.77896354C>T" "" "" "" "PEX2(NM_001172086.2):c.61G>A (p.D21N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76984118C>T" "" "VUS" "" "0000622093" "0" "70" "8" "77896110" "77896110" "dup" "0" "02330" "PEX2_000038" "g.77896110dup" "" "" "" "PEX2(NM_001172086.2):c.310dupA (p.I104Nfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.76983874dup" "" "likely pathogenic" "" "0000652525" "1" "90" "8" "77896060" "77896060" "subst" "0.000146242" "03575" "PEX2_000002" "g.77896060G>A" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs61752123}" "Germline" "" "rs61752123" "0" "" "" "g.76983824G>A" "" "pathogenic" "" "0000653082" "1" "50" "8" "77895667" "77895667" "subst" "0.00526247" "03575" "PEX2_000042" "g.77895667A>G" "6/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; {DB:CLININrs142645936}" "Germline" "" "rs142645936" "0" "" "" "g.76983431A>G" "" "VUS" "" "0000678441" "0" "30" "8" "77895859" "77895859" "subst" "1.62587E-5" "01943" "PEX2_000041" "g.77895859C>T" "" "" "" "PEX2(NM_001172086.1):c.556G>A (p.V186I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000686391" "3" "90" "8" "77896142" "77896142" "del" "0" "02015" "PEX2_000001" "g.77896142del" "" "{PMID:Steinberg 2004:15542397}" "" "273delT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686392" "3" "90" "8" "77896060" "77896060" "subst" "0.000146242" "02015" "PEX2_000002" "g.77896060G>A" "" "{PMID:Gootjes 2004:14630978}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686393" "3" "90" "8" "77896060" "77896060" "subst" "0.000146242" "02015" "PEX2_000002" "g.77896060G>A" "" "{PMID:Shimozawa 1992:1546315}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686394" "3" "90" "8" "77896060" "77896060" "subst" "0.000146242" "02015" "PEX2_000002" "g.77896060G>A" "" "{PMID:Steinberg 2004:15542397}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686395" "3" "90" "8" "77896060" "77896060" "subst" "0.000146242" "02015" "PEX2_000002" "g.77896060G>A" "" "{PMID:Steinberg 2004:15542397}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686396" "3" "90" "8" "77896060" "77896060" "subst" "0.000146242" "02015" "PEX2_000002" "g.77896060G>A" "" "{PMID:Steinberg 2004:15542397}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686397" "21" "90" "8" "77896060" "77896060" "subst" "0.000146242" "02015" "PEX2_000002" "g.77896060G>A" "" "{PMID:Shimozawa 1998:9452066}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686398" "1" "90" "8" "77896060" "77896060" "subst" "0.000146242" "02015" "PEX2_000002" "g.77896060G>A" "" "{PMID:Imamura 1998:9585609}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686399" "3" "90" "8" "77896042" "77896042" "subst" "8.12519E-6" "02015" "PEX2_000003" "g.77896042G>A" "" "{PMID:Steinberg 2004:15542397}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686400" "3" "90" "8" "77896060" "77896060" "subst" "0.000146242" "02015" "PEX2_000002" "g.77896060G>A" "" "{PMID:Shimozawa 1993:7681622}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686401" "3" "90" "8" "77895773" "77895773" "del" "4.06663E-6" "02015" "PEX2_000005" "g.77895773del" "" "{PMID:Shimozawa 2000:10652207}" "" "642delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686402" "3" "90" "8" "77895865" "77895865" "del" "0" "02015" "PEX2_000006" "g.77895865del" "" "{PMID:Shimozawa 2000:10652207}" "" "550delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686403" "3" "90" "8" "77896132" "77896136" "del" "1.62497E-5" "02015" "PEX2_000007" "g.77896132_77896136del" "" "{PMID:Gootjes 2004:14630978}" "" "279_283delGAGAT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686404" "3" "90" "8" "77895746" "77895746" "subst" "0" "02015" "PEX2_000008" "g.77895746C>T" "" "{PMID:Gootjes 2004:14630978}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686405" "3" "90" "8" "77895676" "77895676" "subst" "0" "02015" "PEX2_000009" "g.77895676A>G" "" "{PMID:Gootjes 2004:14630978}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686406" "0" "10" "8" "77896472" "77896472" "subst" "0" "02015" "PEX2_000010" "g.77896472C>A" "0.179" "{PMID:Steinberg 2004:15542397}" "" "-58G>T" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000686407" "3" "90" "8" "77896300" "77896300" "subst" "4.07741E-6" "02015" "PEX2_000014" "g.77896300G>A" "" "{PMID:Krause 2006:17041890}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686408" "3" "90" "8" "77895577" "77895581" "del" "0" "02015" "PEX2_000015" "g.77895577_77895581del" "" "{PMID:Krause 2006:17041890}" "" "834_838delTACTT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686409" "3" "90" "8" "77896129" "77896129" "subst" "0" "03774" "PEX2_000016" "g.77896129G>A" "" "{PMID:Ebberink 2011:21031596}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686410" "3" "90" "8" "77896090" "77896090" "dup" "0" "03774" "PEX2_000017" "g.77896090dup" "" "{PMID:Ebberink 2011:21031596}" "" "325insT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686411" "3" "90" "8" "77896070" "77896076" "del" "3.65559E-5" "03774" "PEX2_000018" "g.77896070_77896076del" "" "{PMID:Ebberink 2011:21031596}" "" "339_345delCAGGTGG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686412" "1" "90" "8" "77896070" "77896076" "del" "3.65559E-5" "03774" "PEX2_000018" "g.77896070_77896076del" "" "{PMID:Ebberink 2011:21031596}" "" "339_345delCAGGTGG" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686413" "1" "90" "8" "77895633" "77895633" "subst" "2.03206E-5" "03774" "PEX2_000019" "g.77895633T>C" "" "{PMID:Ebberink 2011:21031596}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686414" "1" "90" "8" "77895624" "77895624" "subst" "0" "03774" "PEX2_000020" "g.77895624C>T" "" "{PMID:Ebberink 2011:21031596}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686415" "1" "90" "8" "77895549" "77895549" "dup" "0" "03774" "PEX2_000021" "g.77895549dup" "" "{PMID:Ebberink 2011:21031596}" "" "866insA" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686416" "21" "90" "8" "77896042" "77896042" "subst" "8.12519E-6" "00006" "PEX2_000003" "g.77896042G>A" "" "{PMID:Shimozawa 1998:9452066}" "" "C373T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686417" "2" "90" "8" "77896252" "77896252" "subst" "0" "00006" "PEX2_000004" "g.77896252C>T" "" "{PMID:Imamura 1998:9585609}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686418" "3" "90" "8" "77895550" "77895550" "dup" "0" "00006" "PEX2_000043" "g.77895550dup" "" "{PMID:Sevin 2011:21392394}" "" "865_866insA" "father not available" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686419" "1" "90" "8" "77896060" "77896060" "subst" "0.000146242" "00006" "PEX2_000002" "g.77896060G>A" "" "{PMID:Mignarri 2012:23430938}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686420" "2" "90" "8" "77895550" "77895550" "dup" "0" "00006" "PEX2_000043" "g.77895550dup" "" "{PMID:Mignarri 2012:23430938}" "" "865_866insA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686585" "3" "10" "8" "77895865" "77895865" "subst" "0.987177" "00006" "PEX2_000024" "g.77895865A>G" "" "{PMID:Konkolova 2015:26094004}" "" "" "" "Germline" "" "rs10087163" "0" "" "" "" "" "benign" "" "0000722093" "0" "30" "8" "77896324" "77896324" "subst" "0.00258708" "01943" "PEX2_000028" "g.77896324G>C" "" "" "" "PEX2(NM_001172086.1):c.91C>G (p.Q31E), PEX2(NM_001172086.2):c.91C>G (p.Q31E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000785578" "0" "50" "8" "77895895" "77895898" "del" "0" "00000" "PEX2_000044" "g.77895895_77895898del" "" "{PMID:Liu 2015:25611614}" "" "" "variant found in controls" "Germline" "no" "" "0" "" "" "g.76983659_76983662del" "" "VUS" "" "0000803744" "0" "50" "8" "77895546" "77895546" "subst" "2.03457E-5" "01943" "PEX2_000031" "g.77895546A>C" "" "" "" "PEX2(NM_001172086.1):c.869T>G (p.L290R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803745" "0" "90" "8" "77896129" "77896129" "subst" "0" "01943" "PEX2_000016" "g.77896129G>A" "" "" "" "PEX2(NM_000318.2):c.286C>T (p.(Gln96Ter)), PEX2(NM_001172086.1):c.286C>T (p.Q96*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803746" "0" "30" "8" "77896396" "77896396" "subst" "4.07282E-5" "01943" "PEX2_000045" "g.77896396T>G" "" "" "" "PEX2(NM_001172086.1):c.19A>C (p.N7H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852000" "0" "50" "8" "77896111" "77896111" "subst" "0.000162497" "01943" "PEX2_000048" "g.77896111G>T" "" "" "" "PEX2(NM_001172086.1):c.304C>A (p.Q102K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861289" "0" "50" "8" "77895523" "77895523" "subst" "0.000236141" "01943" "PEX2_000046" "g.77895523C>T" "" "" "" "PEX2(NM_001172086.1):c.892G>A (p.E298K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861290" "0" "30" "8" "77895590" "77895590" "subst" "2.4393E-5" "01943" "PEX2_000047" "g.77895590G>A" "" "" "" "PEX2(NM_001172086.1):c.825C>T (p.D275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912992" "0" "10" "8" "77895682" "77895682" "subst" "0.0065889" "02325" "PEX2_000049" "g.77895682C>T" "" "" "" "PEX2(NM_000318.3):c.733G>A (p.A245T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025544" "0" "70" "8" "77895663" "77895663" "subst" "0" "02327" "PEX2_000050" "g.77895663G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025545" "0" "70" "8" "77912225" "77912225" "subst" "0" "02327" "PEX2_000030" "g.77912225C>T" "" "" "" "PEX2(NM_001172086.1):c.-160+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037057" "0" "50" "8" "77895783" "77895783" "subst" "6.099E-5" "01804" "PEX2_000051" "g.77895783A>G" "" "" "" "PEX2(NM_000318.3):c.632T>C (p.(Ile211Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037058" "0" "50" "8" "77895891" "77895891" "subst" "0.000105764" "01804" "PEX2_000052" "g.77895891G>C" "" "" "" "PEX2(NM_000318.3):c.524C>G (p.(Ser175Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037059" "0" "70" "8" "77896232" "77896232" "subst" "0" "01804" "PEX2_000053" "g.77896232C>T" "" "" "" "PEX2(NM_000318.3):c.183G>A (p.(Trp61*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 PEX2 ## Count = 67 "{{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}}" "0000248742" "00015983" "10" "550" "0" "550" "0" "c.550=" "r.(=)" "p.(Arg184=)" "" "0000254665" "00015983" "30" "585" "0" "585" "0" "c.585T>A" "r.(?)" "p.(Leu195=)" "" "0000293689" "00015983" "10" "-13" "0" "-13" "0" "c.-13del" "r.(?)" "p.(=)" "" "0000293690" "00015983" "10" "373" "0" "373" "0" "c.373C>A" "r.(?)" "p.(Arg125=)" "" "0000293691" "00015983" "30" "91" "0" "91" "0" "c.91C>G" "r.(?)" "p.(Gln31Glu)" "" "0000305486" "00015983" "90" "-160" "1" "-160" "1" "c.-160+1G>A" "r.spl?" "p.?" "" "0000305487" "00015983" "50" "209" "0" "209" "0" "c.209A>G" "r.(?)" "p.(Tyr70Cys)" "" "0000305488" "00015983" "50" "282" "0" "282" "0" "c.282A>T" "r.(?)" "p.(Arg94Ser)" "" "0000305489" "00015983" "30" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Ser233Asn)" "" "0000332184" "00015983" "30" "748" "0" "748" "0" "c.748T>C" "r.(?)" "p.(Trp250Arg)" "" "0000347077" "00015983" "50" "869" "0" "869" "0" "c.869T>G" "r.(?)" "p.(Leu290Arg)" "" "0000350180" "00015983" "50" "209" "0" "209" "0" "c.209A>G" "r.(?)" "p.(Tyr70Cys)" "" "0000535341" "00015983" "30" "820" "0" "820" "0" "c.820T>C" "r.(?)" "p.(Phe274Leu)" "" "0000535342" "00015983" "30" "748" "0" "748" "0" "c.748T>C" "r.(?)" "p.(Trp250Arg)" "" "0000535343" "00015983" "30" "322" "0" "322" "0" "c.322G>C" "r.(?)" "p.(Val108Leu)" "" "0000535344" "00015983" "70" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Gln96Ter)" "" "0000535345" "00015983" "30" "282" "0" "282" "0" "c.282A>T" "r.(?)" "p.(Arg94Ser)" "" "0000611712" "00015983" "50" "61" "0" "61" "0" "c.61G>A" "r.(?)" "p.(Asp21Asn)" "" "0000622093" "00015983" "70" "310" "0" "310" "0" "c.310dup" "r.(?)" "p.(Ile104AsnfsTer19)" "" "0000652525" "00015983" "90" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119*)" "" "0000653082" "00015983" "50" "748" "0" "748" "0" "c.748T>C" "r.(?)" "p.(Trp250Arg)" "" "0000678441" "00015983" "30" "556" "0" "556" "0" "c.556G>A" "r.(?)" "p.(Val186Ile)" "" "0000686391" "00015983" "90" "273" "0" "273" "0" "c.273del" "r.(?)" "p.(Asn92Thrfs*2)" "4" "0000686392" "00015983" "90" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119*)" "4" "0000686393" "00015983" "90" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119*)" "4" "0000686394" "00015983" "90" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119*)" "4" "0000686395" "00015983" "90" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119*)" "4" "0000686396" "00015983" "90" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119*)" "4" "0000686397" "00015983" "90" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119*)" "4" "0000686398" "00015983" "90" "355" "0" "355" "0" "c.355C>T" "r.355c>u" "p.Arg119*" "4" "0000686399" "00015983" "90" "373" "0" "373" "0" "c.373C>T" "r.(?)" "p.(Arg125*)" "4" "0000686400" "00015983" "90" "355" "0" "355" "0" "c.355C>T" "r.355c>u" "p.Arg119*" "4" "0000686401" "00015983" "90" "642" "0" "642" "0" "c.642del" "r.(?)" "p.(Lys215Serfs*2)" "4" "0000686402" "00015983" "90" "550" "0" "550" "0" "c.550del" "r.(?)" "p.(Cys184Valfs*8)" "4" "0000686403" "00015983" "90" "279" "0" "283" "0" "c.279_283del" "r.(?)" "p.(Arg94Serfs*5)" "4" "0000686404" "00015983" "90" "669" "0" "669" "0" "c.669G>A" "r.(?)" "p.(Trp223*)" "4" "0000686405" "00015983" "90" "739" "0" "739" "0" "c.739T>C" "r.(?)" "p.(Cys247Arg)" "4" "0000686406" "00015983" "10" "-17" "-41" "-17" "-41" "c.-17-41G>T" "r.(?)" "p.(=)" "4" "0000686407" "00015983" "90" "115" "0" "115" "0" "c.115C>T" "r.(?)" "p.(Gln39*)" "4" "0000686408" "00015983" "90" "834" "0" "838" "0" "c.834_838del" "r.(?)" "p.(Phe278Leufs*3)" "4" "0000686409" "00015983" "90" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Gln96*)" "4" "0000686410" "00015983" "90" "325" "0" "325" "0" "c.325dup" "r.(?)" "p.(Cys109Leufs*14)" "4" "0000686411" "00015983" "90" "339" "0" "345" "0" "c.339_345del" "r.(?)" "p.(Arg114*)" "4" "0000686412" "00015983" "90" "339" "0" "345" "0" "c.339_345del" "r.(?)" "p.(Arg114*)" "4" "0000686413" "00015983" "90" "782" "0" "782" "0" "c.782A>G" "r.(?)" "p.(His261Arg)" "4" "0000686414" "00015983" "90" "791" "0" "791" "0" "c.791G>A" "r.(?)" "p.(Cys264Tyr)" "4" "0000686415" "00015983" "90" "866" "0" "866" "0" "c.866dup" "r.(?)" "p.(Ser289Argfs*36)" "4" "0000686416" "00015983" "90" "373" "0" "373" "0" "c.373C>T" "r.(?)" "p.(Arg125*)" "" "0000686417" "00015983" "90" "163" "0" "163" "0" "c.163G>A" "r.163g>a" "p.Glu55Lys" "" "0000686418" "00015983" "90" "865" "0" "865" "0" "c.865dup" "r.(?)" "p.(Ser289Lysfs*36)" "" "0000686419" "00015983" "90" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119*)" "" "0000686420" "00015983" "90" "865" "0" "865" "0" "c.865dup" "r.(?)" "p.(Ser289Lysfs*36)" "" "0000686585" "00015983" "10" "550" "0" "550" "0" "c.550T>C" "r.(?)" "p.(Cys184Arg)" "" "0000722093" "00015983" "30" "91" "0" "91" "0" "c.91C>G" "r.(?)" "p.(Gln31Glu)" "" "0000785578" "00015983" "50" "521" "0" "524" "0" "c.521_524del" "r.(?)" "p.(His174LeufsTer17)" "" "0000803744" "00015983" "50" "869" "0" "869" "0" "c.869T>G" "r.(?)" "p.(Leu290Arg)" "" "0000803745" "00015983" "90" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Gln96Ter)" "" "0000803746" "00015983" "30" "19" "0" "19" "0" "c.19A>C" "r.(?)" "p.(Asn7His)" "" "0000852000" "00015983" "50" "304" "0" "304" "0" "c.304C>A" "r.(?)" "p.(Gln102Lys)" "" "0000861289" "00015983" "50" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Glu298Lys)" "" "0000861290" "00015983" "30" "825" "0" "825" "0" "c.825C>T" "r.(?)" "p.(Asp275=)" "" "0000912992" "00015983" "10" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Ala245Thr)" "" "0001025544" "00015983" "70" "752" "0" "752" "0" "c.752C>G" "r.(?)" "p.(Pro251Arg)" "" "0001025545" "00015983" "70" "-160" "1" "-160" "1" "c.-160+1G>A" "r.spl?" "p.?" "" "0001037057" "00015983" "50" "632" "0" "632" "0" "c.632T>C" "r.(?)" "p.(Ile211Thr)" "" "0001037058" "00015983" "50" "524" "0" "524" "0" "c.524C>G" "r.(?)" "p.(Ser175Cys)" "" "0001037059" "00015983" "70" "183" "0" "183" "0" "c.183G>A" "r.(?)" "p.(Trp61*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 34 "{{screeningid}}" "{{variantid}}" "0000295836" "0000652525" "0000296393" "0000653082" "0000311101" "0000686391" "0000311102" "0000686392" "0000311103" "0000686393" "0000311104" "0000686394" "0000311105" "0000686395" "0000311106" "0000686396" "0000311107" "0000686397" "0000311107" "0000686416" "0000311108" "0000686398" "0000311108" "0000686417" "0000311109" "0000686399" "0000311110" "0000686400" "0000311111" "0000686401" "0000311112" "0000686402" "0000311113" "0000686403" "0000311114" "0000686404" "0000311115" "0000686405" "0000311116" "0000686406" "0000311117" "0000686407" "0000311118" "0000686408" "0000311119" "0000686409" "0000311120" "0000686410" "0000311121" "0000686411" "0000311122" "0000686412" "0000311123" "0000686413" "0000311124" "0000686414" "0000311125" "0000686415" "0000311126" "0000686418" "0000311127" "0000686419" "0000311127" "0000686420" "0000311247" "0000686585" "0000374745" "0000785578"