### LOVD-version 3000-280 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PEX10) # 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}}" "PEX10" "peroxisomal biogenesis factor 10" "1" "p36.32" "unknown" "NG_008342.1" "UD_132118253562" "" "https://www.LOVD.nl/PEX10" "" "1" "8851" "5192" "602859" "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/PEX10_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 16:28:05" "00000" "2022-05-09 15:51:19" ## 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}}" "00015989" "PEX10" "transcript variant 1" "002" "NM_153818.1" "" "NP_722540.1" "" "" "" "-69" "2005" "1041" "2344010" "2336241" "" "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" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "03763" "PBD6A" "peroxisome biogenesis disorder, type 6A (PBD-6A)" "AR" "614870" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03764" "PBD6B" "peroxisome biogenesis disorder, type 6B (PBD-6B)" "AR" "614871" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "retinal disease" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00006" "2020-08-25 10:54:40" "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 = 3 "{{geneid}}" "{{diseaseid}}" "PEX10" "00139" "PEX10" "03763" "PEX10" "03764" ## Individuals ## Do not remove or alter this header ## ## Count = 41 "{{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}}" "00310001" "" "" "" "1" "" "02015" "{PMID:Krause 2006:17041890}" "" "M" "" "Turkey" "" "0" "" "" "" "PBD-HR7" "00310002" "" "" "" "1" "" "02015" "{PMID:Warren 1998:9683594}" "" "" "" "" "" "0" "" "" "" "PBD100" "00310003" "" "" "" "1" "" "02015" "{PMID:Shimozawa 2003:12794690}" "" "" "" "Japan" "" "0" "" "" "" "B-02" "00310004" "" "" "" "1" "" "02015" "{PMID:Shimozawa 2003:12794690}" "" "" "" "Japan" "" "0" "" "" "" "B-03" "00310005" "" "" "" "1" "" "02015" "{PMID:Shimozawa 2003:12794690}" "" "" "" "Japan" "" "0" "" "" "" "B-04" "00310006" "" "" "" "1" "" "02015" "{PMID:Shimozawa 2003:12794690}" "" "" "" "Japan" "" "0" "" "" "" "B-05" "00310007" "" "" "" "1" "" "02015" "{PMID:Shimozawa 2003:12794690}" "" "" "" "Japan" "" "0" "" "" "" "B-06" "00310008" "" "" "" "1" "" "02015" "{PMID:Shimozawa 2003:12794690}" "" "" "" "Japan" "" "0" "" "" "" "B-07" "00310009" "" "" "" "1" "" "02015" "{PMID:Shimozawa 2003:12794690}" "" "" "" "Japan" "" "0" "" "" "" "B-08" "00310010" "" "" "" "1" "" "02015" "{PMID:Shimozawa 2003:12794690}" "" "" "" "Japan" "" "0" "" "" "" "B-09" "00310011" "" "" "" "1" "" "02015" "{PMID:Shimozawa 2003:12794690}" "" "" "" "Japan" "" "0" "" "" "" "B-10" "00310012" "" "" "" "1" "" "02015" "{PMID:Shimozawa 2003:12794690}" "" "" "" "Japan" "" "0" "" "" "" "B-11" "00310013" "" "" "" "1" "" "02015" "{PMID:Okumoto 1998:9700193}, {PMID:Shimozawa 2003:12794690}" "" "M" "" "Japan" "" "0" "" "" "" "PBDB-01" "00310014" "" "" "" "1" "" "02015" "{PMID:Warren 2000:10862081}" "" "" "" "" "" "0" "" "" "" "PBD116" "00310015" "" "" "" "1" "" "02015" "{PMID:Warren 2000:10862081}" "" "" "" "" "" "0" "" "" "" "PBD121" "00310016" "" "" "" "1" "" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00310017" "" "" "" "1" "" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00310018" "" "" "" "1" "" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00310019" "" "" "" "1" "" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00310020" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310021" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310022" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310023" "" "" "" "1" "" "02015" "{PMID:Regal 2010:20695019}" "" "M" "" "Belgium" "" "0" "" "" "" "Pat1" "00310024" "" "" "" "1" "" "02015" "{PMID:Krause 2006:17041890}" "" "F" "" "Germany" "" "0" "" "" "" "PBD-HR8" "00310025" "" "" "" "1" "" "02015" "{PMID:Warren 1998:9683594}" "" "" "" "" "" "0" "" "" "" "PBD052" "00310026" "" "" "" "1" "" "02015" "{PMID:Warren 2000:10862081}" "" "" "" "" "" "0" "" "" "" "PBD117" "00310027" "" "" "" "1" "" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00310029" "" "" "" "1" "" "02015" "" "" "" "" "United States" "" "0" "" "" "" "patient" "00310030" "" "" "" "1" "" "02015" "{PMID:Regal 2010:20695019}" "" "M" "" "Belgium" "" "0" "" "" "" "Pat2" "00310031" "" "" "" "1" "" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00310032" "" "" "" "1" "" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00310034" "" "" "" "1" "" "00006" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00310035" "" "" "" "1" "" "00006" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00310036" "" "" "" "1" "" "00006" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00310037" "" "" "" "1" "" "00006" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "control" "00310038" "" "" "" "1" "" "00006" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "controls" "00310042" "" "" "" "1" "" "00006" "{PMID:Steinberg 2009:19127411}" "" "F" "" "United States" "" "0" "" "" "" "PBD687" "00310613" "" "" "" "1" "" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat603" "00310614" "" "" "" "1" "" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat652" "00310666" "" "" "" "1" "" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "" "00386876" "" "" "" "1" "" "00000" "{PMID:Zampaglione-2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-072" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 41 "{{individualid}}" "{{diseaseid}}" "00310001" "05079" "00310002" "05079" "00310003" "05079" "00310004" "05079" "00310005" "05079" "00310006" "05079" "00310007" "05079" "00310008" "05079" "00310009" "05079" "00310010" "05079" "00310011" "05079" "00310012" "05079" "00310013" "05079" "00310014" "05079" "00310015" "05079" "00310016" "05079" "00310017" "05079" "00310018" "05079" "00310019" "05079" "00310020" "05079" "00310021" "05079" "00310022" "05079" "00310023" "05079" "00310024" "05079" "00310025" "05079" "00310026" "05079" "00310027" "00000" "00310029" "05079" "00310030" "05079" "00310031" "05079" "00310032" "05079" "00310034" "05079" "00310035" "05079" "00310036" "05079" "00310037" "00000" "00310038" "00000" "00310042" "05079" "00310613" "05079" "00310614" "05079" "00310666" "05079" "00386876" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 03763, 03764, 04214, 05079 ## Count = 35 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000235317" "05079" "00310001" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235318" "05079" "00310002" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235319" "05079" "00310003" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235320" "05079" "00310004" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235321" "05079" "00310005" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235322" "05079" "00310006" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235323" "05079" "00310007" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235324" "05079" "00310008" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235325" "05079" "00310009" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235326" "05079" "00310010" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235327" "05079" "00310011" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235328" "05079" "00310012" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235329" "05079" "00310013" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235330" "05079" "00310014" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235331" "05079" "00310015" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235332" "05079" "00310016" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235333" "05079" "00310017" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235334" "05079" "00310018" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235335" "05079" "00310019" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235336" "05079" "00310020" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235337" "05079" "00310021" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "0000235338" "05079" "00310022" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235339" "05079" "00310023" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235340" "05079" "00310024" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235341" "05079" "00310025" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "0000235342" "05079" "00310026" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy, Zellweger syndrome" "0000235344" "05079" "00310029" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235345" "05079" "00310030" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235346" "05079" "00310031" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235347" "05079" "00310032" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235349" "05079" "00310034" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235350" "05079" "00310035" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235351" "05079" "00310036" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000235354" "05079" "00310042" "00006" "Familial, autosomal recessive" "17y" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "0000280676" "04214" "00386876" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" ## Screenings ## Do not remove or alter this header ## ## Count = 41 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000311149" "00310001" "1" "02015" "00006" "2006-12-03 18:00:00" "" "" "SEQ" "DNA" "" "" "0000311150" "00310002" "1" "02015" "00006" "2006-05-07 19:37:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311151" "00310003" "1" "02015" "00006" "2006-05-07 19:37:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311152" "00310004" "1" "02015" "00006" "2006-05-07 19:37:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311153" "00310005" "1" "02015" "00006" "2006-05-07 19:37:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311154" "00310006" "1" "02015" "00006" "2006-05-07 19:37:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311155" "00310007" "1" "02015" "00006" "2006-05-07 19:37:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311156" "00310008" "1" "02015" "00006" "2006-05-07 19:37:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311157" "00310009" "1" "02015" "00006" "2006-05-07 19:37:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311158" "00310010" "1" "02015" "00006" "2006-05-07 19:37:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311159" "00310011" "1" "02015" "00006" "2006-05-07 19:37:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311160" "00310012" "1" "02015" "00006" "2006-05-07 19:37:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311161" "00310013" "1" "02015" "00006" "2006-05-07 19:37:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311162" "00310014" "1" "02015" "00006" "2006-05-07 19:37:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311163" "00310015" "1" "02015" "00006" "2006-05-07 19:37:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311164" "00310016" "1" "03774" "00006" "2012-05-07 08:24:20" "" "" "SEQ" "DNA" "" "" "0000311165" "00310017" "1" "03774" "00006" "2012-05-07 08:28:14" "" "" "SEQ" "DNA" "" "" "0000311166" "00310018" "1" "03774" "00006" "2012-05-07 08:30:07" "" "" "SEQ" "DNA" "" "" "0000311167" "00310019" "1" "03774" "00006" "2012-05-07 08:32:17" "" "" "SEQ" "DNA" "" "" "0000311168" "00310020" "1" "02015" "00006" "2006-05-07 19:37:00" "" "" "SEQ" "DNA" "" "" "0000311169" "00310021" "1" "02015" "00006" "2006-05-07 19:37:00" "" "" "SEQ" "DNA" "" "" "0000311170" "00310022" "1" "02015" "00006" "2006-05-07 19:37:00" "" "" "SEQ" "DNA" "" "" "0000311171" "00310023" "1" "02015" "00006" "2010-10-05 15:04:15" "00006" "2020-09-08 13:07:57" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311172" "00310024" "1" "02015" "00006" "2006-12-03 18:01:00" "00006" "2020-09-08 11:39:40" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311173" "00310025" "1" "02015" "00006" "2006-05-07 19:37:00" "" "" "SEQ" "DNA" "" "" "0000311174" "00310026" "1" "02015" "00006" "2006-05-07 19:37:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311175" "00310027" "1" "02015" "00006" "2006-10-28 15:47:00" "" "" "SEQ" "DNA" "" "" "0000311177" "00310029" "1" "02015" "00006" "2009-06-15 12:52:25" "" "" "SEQ" "DNA" "" "" "0000311178" "00310030" "1" "02015" "00006" "2010-10-05 10:46:05" "00006" "2020-09-08 13:08:37" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311179" "00310031" "1" "03774" "00006" "2012-05-07 08:20:35" "" "" "SEQ" "DNA" "" "" "0000311180" "00310032" "1" "03774" "00006" "2012-05-07 08:22:32" "" "" "SEQ" "DNA" "" "" "0000311182" "00310034" "1" "00006" "00006" "2020-09-08 12:03:19" "" "" "SEQ" "DNA" "" "" "0000311183" "00310035" "1" "00006" "00006" "2020-09-08 12:03:19" "" "" "SEQ" "DNA" "" "" "0000311184" "00310036" "1" "00006" "00006" "2020-09-08 12:03:19" "" "" "SEQ" "DNA" "" "" "0000311185" "00310037" "1" "00006" "00006" "2020-09-08 12:25:59" "" "" "SEQ" "DNA" "" "" "0000311186" "00310038" "1" "00006" "00006" "2020-09-08 12:29:32" "" "" "SEQ" "DNA" "" "" "0000311190" "00310042" "1" "00006" "00006" "2020-09-08 13:35:05" "" "" "SEQ" "DNA" "" "" "0000311765" "00310613" "1" "00006" "00006" "2020-09-11 19:01:29" "" "" "SEQ" "DNA" "" "" "0000311766" "00310614" "1" "00006" "00006" "2020-09-11 19:08:01" "" "" "SEQ" "DNA" "" "" "0000311818" "00310666" "1" "00006" "00006" "2020-09-13 10:09:13" "" "" "SEQ" "DNA" "" "" "0000388104" "00386876" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{geneid}}" "0000311149" "PEX10" "0000311150" "PEX10" "0000311151" "PEX10" "0000311152" "PEX10" "0000311153" "PEX10" "0000311154" "PEX10" "0000311155" "PEX10" "0000311156" "PEX10" "0000311157" "PEX10" "0000311158" "PEX10" "0000311159" "PEX10" "0000311160" "PEX10" "0000311161" "PEX10" "0000311162" "PEX10" "0000311163" "PEX10" "0000311164" "PEX10" "0000311165" "PEX10" "0000311166" "PEX10" "0000311167" "PEX10" "0000311168" "PEX10" "0000311169" "PEX10" "0000311170" "PEX10" "0000311171" "PEX10" "0000311172" "PEX10" "0000311173" "PEX10" "0000311174" "PEX10" "0000311175" "PEX10" "0000311177" "PEX10" "0000311182" "PEX10" "0000311183" "PEX10" "0000311184" "PEX10" "0000311185" "PEX10" "0000311186" "PEX10" "0000311190" "PEX10" "0000311765" "PEX10" "0000311766" "PEX10" "0000311818" "PEX10" "0000388104" "PEX10" ## 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 = 93 "{{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}}" "0000296898" "0" "10" "1" "2340212" "2340212" "subst" "0.0542775" "02325" "PEX10_000011" "g.2340212G>A" "" "" "" "PEX10(NM_153818.1):c.279C>T (p.G93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2408773G>A" "" "benign" "" "0000296899" "0" "10" "1" "2340200" "2340200" "subst" "0.774321" "02325" "PEX10_000012" "g.2340200T>C" "" "" "" "PEX10(NM_153818.1):c.291A>G (p.T97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2408761T>C" "" "benign" "" "0000296900" "0" "30" "1" "2340175" "2340175" "subst" "0.000305753" "02325" "PEX10_000055" "g.2340175G>A" "" "" "" "PEX10(NM_153818.1):c.316C>T (p.L106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2408736G>A" "" "likely benign" "" "0000296901" "0" "10" "1" "2340173" "2340173" "subst" "0.00640305" "02325" "PEX10_000054" "g.2340173C>T" "" "" "" "PEX10(NM_153818.1):c.318G>A (p.L106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2408734C>T" "" "benign" "" "0000296902" "0" "10" "1" "2337277" "2337277" "subst" "0.104917" "02325" "PEX10_000041" "g.2337277C>T" "" "" "" "PEX10(NM_153818.1):c.973-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2405838C>T" "" "benign" "" "0000300723" "0" "90" "1" "2338205" "2338205" "subst" "0" "02326" "PEX10_000005" "g.2338205G>A" "" "" "" "PEX10(NM_153818.1):c.790C>T (p.R264*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2406766G>A" "" "pathogenic" "" "0000305477" "0" "10" "1" "2340212" "2340212" "subst" "0.0542775" "01943" "PEX10_000011" "g.2340212G>A" "" "" "" "PEX10(NM_153818.1):c.279C>T (p.G93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2408773G>A" "" "benign" "" "0000305478" "0" "30" "1" "2340056" "2340056" "subst" "0.0025194" "01943" "PEX10_000052" "g.2340056C>T" "" "" "" "PEX10(NM_153818.1):c.435G>A (p.M145I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2408617C>T" "" "likely benign" "" "0000305479" "0" "50" "1" "2340045" "2340045" "subst" "0" "01943" "PEX10_000051" "g.2340045G>A" "" "" "" "PEX10(NM_153818.1):c.446C>T (p.T149M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2408606G>A" "" "VUS" "" "0000305480" "0" "50" "1" "2338331" "2338331" "subst" "0.0000943833" "01943" "PEX10_000048" "g.2338331G>T" "" "" "" "PEX10(NM_153818.1):c.664C>A (p.R222S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2406892G>T" "" "VUS" "" "0000305481" "0" "10" "1" "2338250" "2338250" "subst" "0.00150661" "01943" "PEX10_000046" "g.2338250C>G" "" "" "" "PEX10(NM_153818.1):c.745G>C (p.V249L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2406811C>G" "" "benign" "" "0000305482" "0" "50" "1" "2338210" "2338210" "subst" "0.0000806691" "01943" "PEX10_000045" "g.2338210C>T" "" "" "" "PEX10(NM_153818.1):c.785G>A (p.R262Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2406771C>T" "" "VUS" "" "0000307030" "0" "30" "1" "2330934" "2330934" "subst" "0" "01943" "RER1_000001" "g.2330934T>C" "" "" "" "RER1(NM_007033.4):c.267T>C (p.P89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2399495T>C" "" "likely benign" "" "0000320461" "0" "50" "1" "2338162" "2338162" "subst" "0.0000605091" "01804" "PEX10_000042" "g.2338162C>T" "" "" "" "PEX10(NM_002617.3):c.773G>A (p.(Arg258His)), PEX10(NM_153818.1):c.833G>A (p.R278H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2406723C>T" "" "VUS" "" "0000320465" "0" "50" "1" "2339896" "2339896" "subst" "0" "01804" "PEX10_000049" "g.2339896T>G" "" "" "" "PEX10(NM_002617.3):c.595A>C (p.(Thr199Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2408457T>G" "" "VUS" "" "0000347691" "0" "90" "1" "2343941" "2343941" "subst" "0" "02327" "PEX10_000060" "g.2343941T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2412502T>C" "" "pathogenic" "" "0000505910" "0" "30" "1" "2319709" "2319709" "subst" "0.0000324992" "01943" "MORN1_000004" "g.2319709C>T" "" "" "" "MORN1(NM_024848.3):c.216G>A (p.T72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2388270C>T" "" "likely benign" "" "0000505919" "0" "70" "1" "2337254" "2337254" "subst" "0" "01943" "PEX10_000021" "g.2337254C>T" "" "" "" "PEX10(NM_153818.1):c.992G>A (p.R331Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2405815C>T" "" "likely pathogenic" "" "0000505922" "0" "10" "1" "2338015" "2338015" "subst" "0.0202448" "02325" "PEX10_000014" "g.2338015T>C" "" "" "" "PEX10(NM_153818.1):c.880A>G (p.T294A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2406576T>C" "" "benign" "" "0000505923" "0" "30" "1" "2338015" "2338015" "subst" "0.0202448" "02326" "PEX10_000014" "g.2338015T>C" "" "" "" "PEX10(NM_153818.1):c.880A>G (p.T294A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2406576T>C" "" "likely benign" "" "0000505926" "0" "50" "1" "2338223" "2338223" "subst" "0.00128187" "01943" "PEX10_000065" "g.2338223C>G" "" "" "" "PEX10(NM_153818.1):c.772G>C (p.G258R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2406784C>G" "" "VUS" "" "0000505927" "0" "30" "1" "2338223" "2338223" "subst" "0.00128187" "02325" "PEX10_000065" "g.2338223C>G" "" "" "" "PEX10(NM_153818.1):c.772G>C (p.G258R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2406784C>G" "" "likely benign" "" "0000505930" "0" "30" "1" "2340084" "2340084" "subst" "0.0000210825" "01943" "PEX10_000066" "g.2340084C>T" "" "" "" "PEX10(NM_153818.1):c.407G>A (p.R136H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2408645C>T" "" "likely benign" "" "0000505933" "0" "50" "1" "2341867" "2341867" "subst" "0" "02325" "PEX10_000069" "g.2341867T>C" "" "" "" "PEX10(NM_153818.1):c.136A>G (p.R46G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2410428T>C" "" "VUS" "" "0000505936" "0" "70" "1" "2343940" "2343940" "subst" "0" "01943" "PEX10_000024" "g.2343940A>G" "" "" "" "PEX10(NM_153818.1):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2412501A>G" "" "likely pathogenic" "" "0000605417" "0" "50" "1" "2338307" "2338307" "subst" "0" "01943" "PEX10_000031" "g.2338307C>T" "" "" "" "PEX10(NM_153818.1):c.688G>A (p.D230N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2406868C>T" "" "VUS" "" "0000620546" "0" "30" "1" "2319772" "2319772" "subst" "0.000288435" "01943" "MORN1_000005" "g.2319772G>A" "" "" "" "MORN1(NM_024848.3):c.153C>T (p.H51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2388333G>A" "" "likely benign" "" "0000620549" "0" "30" "1" "2338151" "2338151" "subst" "0.00018684" "01943" "PEX10_000064" "g.2338151G>A" "" "" "" "PEX10(NM_153818.1):c.836+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2406712G>A" "" "likely benign" "" "0000653931" "0" "30" "1" "2343850" "2343850" "subst" "0" "01804" "PEX10_000033" "g.2343850C>T" "" "" "" "PEX10(NM_002617.3):c.92G>A (p.(Gly31Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2412411C>T" "" "likely benign" "" "0000675698" "0" "30" "1" "2338162" "2338162" "subst" "0.0000605091" "01943" "PEX10_000042" "g.2338162C>T" "" "" "" "PEX10(NM_002617.3):c.773G>A (p.(Arg258His)), PEX10(NM_153818.1):c.833G>A (p.R278H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000686451" "3" "90" "1" "2338205" "2338205" "subst" "0" "02015" "PEX10_000005" "g.2338205G>A" "" "{PMID:Krause 2006:17041890}" "" "730C>T (Arg244X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686452" "3" "90" "1" "2339890" "2339890" "subst" "0.0000205411" "02015" "PEX10_000008" "g.2339890C>T" "" "{PMID:Warren 1998:9683594}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686453" "3" "90" "1" "2338020" "2338021" "" "0.0000325892" "02015" "PEX10_000009" "g.2338020_2338021del" "" "{PMID:Shimozawa 2003:12794690}" "" "814_815delCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686454" "3" "90" "1" "2338020" "2338021" "" "0.0000325892" "02015" "PEX10_000009" "g.2338020_2338021del" "" "{PMID:Shimozawa 2003:12794690}" "" "814_815delCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686455" "3" "90" "1" "2338020" "2338021" "" "0.0000325892" "02015" "PEX10_000009" "g.2338020_2338021del" "" "{PMID:Shimozawa 2003:12794690}" "" "814_815delCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686456" "3" "90" "1" "2338020" "2338021" "" "0.0000325892" "02015" "PEX10_000009" "g.2338020_2338021del" "" "{PMID:Shimozawa 2003:12794690}" "" "814_815delCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686457" "3" "90" "1" "2338020" "2338021" "" "0.0000325892" "02015" "PEX10_000009" "g.2338020_2338021del" "" "{PMID:Shimozawa 2003:12794690}" "" "814_815delCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686458" "3" "90" "1" "2338020" "2338021" "" "0.0000325892" "02015" "PEX10_000009" "g.2338020_2338021del" "" "{PMID:Shimozawa 2003:12794690}" "" "814_815delCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686459" "3" "90" "1" "2338020" "2338021" "" "0.0000325892" "02015" "PEX10_000009" "g.2338020_2338021del" "" "{PMID:Shimozawa 2003:12794690}" "" "814_815delCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686460" "3" "90" "1" "2338020" "2338021" "" "0.0000325892" "02015" "PEX10_000009" "g.2338020_2338021del" "" "{PMID:Shimozawa 2003:12794690}" "" "814_815delCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686461" "3" "90" "1" "2338020" "2338021" "" "0.0000325892" "02015" "PEX10_000009" "g.2338020_2338021del" "" "{PMID:Shimozawa 2003:12794690}" "" "814_815delCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686462" "3" "90" "1" "2338020" "2338021" "" "0.0000325892" "02015" "PEX10_000009" "g.2338020_2338021del" "" "{PMID:Shimozawa 2003:12794690}" "" "814_815delCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686463" "3" "90" "1" "2338020" "2338021" "del" "0.0000325892" "02015" "PEX10_000009" "g.2338020_2338021del" "" "{PMID:Okumoto 1998:9700193},{PMID:Shimozawa 2003:12794690}" "" "814_815delCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686464" "3" "90" "1" "2338020" "2338021" "del" "0.0000325892" "02015" "PEX10_000009" "g.2338020_2338021del" "" "{PMID:Warren 2000:10862081}" "" "814_815delCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686465" "3" "90" "1" "2338020" "2338021" "del" "0.0000325892" "02015" "PEX10_000009" "g.2338020_2338021del" "" "{PMID:Warren 2000:10862081}" "" "814_815delCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686466" "3" "90" "1" "2340280" "2340280" "subst" "0" "03774" "PEX10_000026" "g.2340280C>T" "" "{PMID:Ebberink 2011:21031596}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686467" "3" "90" "1" "2340258" "2340258" "subst" "0.00000406517" "03774" "PEX10_000028" "g.2340258T>C" "" "{PMID:Ebberink 2011:21031596}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686468" "3" "90" "1" "2340139" "2340139" "subst" "0" "03774" "PEX10_000029" "g.2340139G>A" "" "{PMID:Ebberink 2011:21031596}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686469" "3" "90" "1" "2338298" "2338298" "del" "0" "03774" "PEX10_000030" "g.2338298del" "" "{PMID:Ebberink 2011:21031596}" "" "697delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686470" "1" "90" "1" "2343938" "2343938" "del" "0" "02015" "PEX10_000001" "g.2343938del" "" "{PMID:Steinberg 2004:15542397}" "" "4delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686471" "1" "90" "1" "2338231" "2338231" "dup" "0" "02015" "PEX10_000020" "g.2338231dupT" "" "{PMID:Steinberg 2004:15542397}" "" "705insA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686472" "1" "90" "1" "2338231" "2338231" "dup" "0" "02015" "PEX10_000003" "g.2338231dup" "" "{PMID:Steinberg 2004:15542397}" "" "705insA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686473" "1" "90" "1" "2338231" "2338231" "dup" "0" "02015" "PEX10_000003" "g.2338231dup" "" "{PMID:Regal 2010:20695019}" "" "c.764_765insA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686474" "1" "90" "1" "2338205" "2338205" "subst" "0" "02015" "PEX10_000005" "g.2338205G>A" "" "{PMID:Krause 2006:17041890}" "" "730C>T (Arg244X)" "no RNA detectable" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686475" "1" "90" "1" "2340118" "2340118" "subst" "0" "02015" "PEX10_000006" "g.2340118G>A" "" "{PMID:Warren 1998:9683594}" "" "405C>T" "reduced RNA expression" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686476" "1" "90" "1" "2343914" "2343929" "delins" "0" "02015" "PEX10_000010" "g.2343914_2343929delinsGGCGGCGCAGGTGCTGGCGG" "" "{PMID:Warren 2000:10862081}" "" "13_28delinsCCGCCAGCACCTGCGCCGCC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686477" "0" "10" "1" "2338015" "2338015" "subst" "0.0202448" "02015" "PEX10_000014" "g.2338015T>C" "" "{PMID:Steinberg 2004:15542397}" "" "877A>G (T294A)" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000686479" "1" "90" "1" "2338000" "2338000" "subst" "0" "02015" "PEX10_000019" "g.2338000C>A" "" "" "" "835G>& (Glu279X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686480" "1" "90" "1" "2343940" "2343940" "subst" "0" "02015" "PEX10_000024" "g.2343940A>G" "" "{PMID:Regal 2010:20695019}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686481" "0" "90" "1" "2340288" "2340288" "subst" "0" "03774" "PEX10_000025" "g.2340288G>T" "" "{PMID:Ebberink 2011:21031596}" "" "" "no variant 2nd chromosome reported" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686482" "1" "90" "1" "2340283" "2340283" "subst" "0" "03774" "PEX10_000027" "g.2340283C>G" "" "{PMID:Ebberink 2011:21031596}" "" "" "no variant 2nd chromosome reported" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686483" "2" "90" "1" "2337965" "2337965" "subst" "0" "00006" "PEX10_000007" "g.2337965G>C" "" "{PMID:Warren 1998:9683594}" "" "870C>G (H290Q)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686485" "2" "90" "1" "2338231" "2338231" "dup" "0" "00006" "PEX10_000003" "g.2338231dup" "" "{PMID:Warren 2000:10862081}" "" "704_705insA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686486" "2" "90" "1" "2337954" "2337954" "subst" "0.000012234" "00006" "PEX10_000017" "g.2337954C>T" "" "{PMID:Krause 2006:17041890}" "" "881G>A (Trp294X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686487" "1" "90" "1" "2343939" "2343939" "subst" "0" "00006" "PEX10_000035" "g.2343939C>T" "" "{PMID:Ebberink 2011:21031596}" "" "" "no variant 2nd chromosome reported" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686488" "3" "90" "1" "2338289" "2338289" "dup" "0" "00006" "PEX10_000036" "g.2338289dup" "" "{PMID:Ebberink 2011:21031596}" "" "646_647insA" "no variant 2nd chromosome reported" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686489" "1" "90" "1" "2337267" "2337267" "subst" "0" "00006" "PEX10_000037" "g.2337267A>G" "" "{PMID:Ebberink 2011:21031596}" "" "919T>C" "no variant 2nd chromosome reported" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686490" "2" "90" "1" "2338003" "2338003" "subst" "0" "00006" "PEX10_000002" "g.2338003C>A" "" "{PMID:Steinberg 2004:15542397}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686491" "2" "90" "1" "2337967" "2337967" "subst" "0" "00006" "PEX10_000004" "g.2337967G>C" "" "{PMID:Steinberg 2004:15542397}" "" "870 (H290D)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686492" "2" "90" "1" "2338205" "2338205" "subst" "0" "00006" "PEX10_000005" "g.2338205G>A" "" "{PMID:Steinberg 2004:15542397}" "" "730 (R264X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686493" "0" "10" "1" "2340212" "2340212" "subst" "0.0542775" "00006" "PEX10_000011" "g.2340212G>A" "0.06" "{PMID:Steinberg 2004:15542397}" "" "" "" "Germline" "" "rs1143016" "0" "" "" "" "" "benign" "" "0000686494" "0" "10" "1" "2340200" "2340200" "subst" "0.774321" "00006" "PEX10_000012" "g.2340200T>C" "0.78" "{PMID:Steinberg 2004:15542397}" "" "291G>A" "" "Germline" "" "rs2494598" "0" "" "" "" "" "benign" "" "0000686495" "2" "90" "1" "2337254" "2337254" "subst" "0" "00006" "PEX10_000021" "g.2337254C>T" "" "{PMID:Regal 2010:20695019}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686497" "2" "90" "1" "2338205" "2338205" "subst" "0" "00006" "PEX10_000005" "g.2338205G>A" "" "{PMID:Regal 2010:20695019}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686502" "2" "90" "1" "2343890" "2343890" "subst" "0" "02015" "PEX10_000018" "g.2343890C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686504" "11" "90" "1" "2340154" "2340154" "del" "0" "00006" "PEX10_000022" "g.2340154del" "" "{PMID:Steinberg 2009:19127411}" "" "337delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686505" "20" "90" "1" "2338005" "2338005" "subst" "0" "00006" "PEX10_000023" "g.2338005A>G" "" "{PMID:Steinberg 2009:19127411}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686506" "11" "50" "1" "2338015" "2338015" "subst" "0.0202448" "00006" "PEX10_000014" "g.2338015T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000687274" "1" "90" "1" "2343938" "2343938" "del" "0" "00006" "PEX10_000001" "g.2343938del" "" "{PMID:Yik 2009:19105186}" "" "4delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000687275" "2" "90" "1" "2338000" "2338000" "subst" "0" "00006" "PEX10_000019" "g.2338000C>A" "" "{PMID:Yik 2009:19105186}" "" "835G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000687276" "1" "90" "1" "2338230" "2338230" "dup" "0" "00006" "PEX10_000070" "g.2338230dup" "" "{PMID:Yik 2009:19105186}" "" "704_705insA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000687277" "2" "90" "1" "2338205" "2338205" "subst" "0" "00006" "PEX10_000005" "g.2338205G>A" "" "{PMID:Yik 2009:19105186}" "" "730C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000687369" "0" "10" "1" "2338015" "2338015" "subst" "0.0202448" "00006" "PEX10_000014" "g.2338015T>C" "0.03" "{PMID:Yik 2009:19105186}" "" "" "820A>G" "Germline" "" "" "0" "" "" "g.2406576T>C" "" "benign" "" "0000688061" "0" "50" "1" "2337996" "2337996" "subst" "0.00010188" "01943" "PEX10_000062" "g.2337996C>T" "" "" "" "PEX10(NM_153818.1):c.899G>A (p.R300H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688062" "0" "30" "1" "2339999" "2339999" "subst" "0" "01943" "PEX10_000071" "g.2339999G>C" "" "" "" "PEX10(NM_153818.1):c.492C>G (p.V164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717268" "0" "50" "1" "2337219" "2337219" "subst" "0.0000757576" "01943" "PEX10_000072" "g.2337219G>A" "" "" "" "PEX10(NM_153818.1):c.1027C>T (p.R343W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717269" "0" "30" "1" "2337930" "2337930" "subst" "0.0000163858" "01943" "PEX10_000073" "g.2337930C>T" "" "" "" "PEX10(NM_153818.1):c.965G>A (p.S322N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717270" "0" "30" "1" "2339996" "2339996" "subst" "0.000390927" "01943" "PEX10_000074" "g.2339996G>A" "" "" "" "PEX10(NM_153818.1):c.495C>T (p.F165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799166" "0" "30" "1" "2338019" "2338019" "subst" "0.000093694" "02325" "PEX10_000075" "g.2338019C>A" "" "" "" "PEX10(NM_153818.1):c.876G>T (p.L292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799167" "0" "30" "1" "2338313" "2338313" "subst" "0.0002598" "01943" "PEX10_000076" "g.2338313C>T" "" "" "" "PEX10(NM_153818.1):c.682G>A (p.G228R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799169" "0" "30" "1" "2339994" "2339994" "subst" "0" "01943" "PEX10_000077" "g.2339994A>G" "" "" "" "PEX10(NM_153818.1):c.497T>C (p.V166A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000816262" "0" "50" "1" "2341891" "2341891" "subst" "0" "00000" "PEX10_000078" "g.2341891C>T" "" "{PMID:Zampaglione-2020:32037395}" "" "PEX10 c.113-1G>A" "unsolved" "Unknown" "?" "" "0" "" "" "g.2410452C>T" "" "VUS" "" "0000857341" "0" "50" "1" "2319720" "2319720" "subst" "0.000109674" "01943" "MORN1_000006" "g.2319720C>T" "" "" "" "MORN1(NM_024848.3):c.205G>A (p.G69R)" "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 PEX10 ## Count = 93 "{{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}}" "0000296898" "00015989" "10" "279" "0" "279" "0" "c.279C>T" "r.(?)" "p.(Gly93=)" "" "0000296899" "00015989" "10" "291" "0" "291" "0" "c.291A>G" "r.(?)" "p.(Thr97=)" "" "0000296900" "00015989" "30" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Leu106=)" "" "0000296901" "00015989" "10" "318" "0" "318" "0" "c.318G>A" "r.(?)" "p.(Leu106=)" "" "0000296902" "00015989" "10" "973" "-4" "973" "-4" "c.973-4G>A" "r.spl?" "p.?" "" "0000300723" "00015989" "90" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Arg264Ter)" "" "0000305477" "00015989" "10" "279" "0" "279" "0" "c.279C>T" "r.(?)" "p.(Gly93=)" "" "0000305478" "00015989" "30" "435" "0" "435" "0" "c.435G>A" "r.(?)" "p.(Met145Ile)" "" "0000305479" "00015989" "50" "446" "0" "446" "0" "c.446C>T" "r.(?)" "p.(Thr149Met)" "" "0000305480" "00015989" "50" "664" "0" "664" "0" "c.664C>A" "r.(?)" "p.(Arg222Ser)" "" "0000305481" "00015989" "10" "745" "0" "745" "0" "c.745G>C" "r.(?)" "p.(Val249Leu)" "" "0000305482" "00015989" "50" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Arg262Gln)" "" "0000307030" "00015989" "30" "7312" "0" "7312" "0" "c.*6271A>G" "r.(=)" "p.(=)" "" "0000320461" "00015989" "50" "833" "0" "833" "0" "c.833G>A" "r.(?)" "p.(Arg278His)" "" "0000320465" "00015989" "50" "595" "0" "595" "0" "c.595A>C" "r.(?)" "p.(Thr199Pro)" "" "0000347691" "00015989" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000505910" "00015989" "30" "18537" "0" "18537" "0" "c.*17496G>A" "r.(=)" "p.(=)" "" "0000505919" "00015989" "70" "992" "0" "992" "0" "c.992G>A" "r.(?)" "p.(Arg331Gln)" "" "0000505922" "00015989" "10" "880" "0" "880" "0" "c.880A>G" "r.(?)" "p.(Thr294Ala)" "" "0000505923" "00015989" "30" "880" "0" "880" "0" "c.880A>G" "r.(?)" "p.(Thr294Ala)" "" "0000505926" "00015989" "50" "772" "0" "772" "0" "c.772G>C" "r.(?)" "p.(Gly258Arg)" "" "0000505927" "00015989" "30" "772" "0" "772" "0" "c.772G>C" "r.(?)" "p.(Gly258Arg)" "" "0000505930" "00015989" "30" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Arg136His)" "" "0000505933" "00015989" "50" "136" "0" "136" "0" "c.136A>G" "r.(?)" "p.(Arg46Gly)" "" "0000505936" "00015989" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000605417" "00015989" "50" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Asp230Asn)" "" "0000620546" "00015989" "30" "18474" "0" "18474" "0" "c.*17433C>T" "r.(=)" "p.(=)" "" "0000620549" "00015989" "30" "836" "8" "836" "8" "c.836+8C>T" "r.(=)" "p.(=)" "" "0000653931" "00015989" "30" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Gly31Asp)" "" "0000675698" "00015989" "30" "833" "0" "833" "0" "c.833G>A" "r.(?)" "p.(Arg278His)" "" "0000686451" "00015989" "90" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Arg264*)" "4" "0000686452" "00015989" "90" "600" "1" "600" "1" "c.600+1G>A" "r.r.194_600del" "p.Gly65fs" "3i" "0000686453" "00015989" "90" "874" "0" "875" "0" "c.874_875del" "r.(?)" "p.(Leu292Valfs*66)" "5" "0000686454" "00015989" "90" "874" "0" "875" "0" "c.874_875del" "r.(?)" "p.(Leu292Valfs*66)" "5" "0000686455" "00015989" "90" "874" "0" "875" "0" "c.874_875del" "r.(?)" "p.(Leu292Valfs*66)" "5" "0000686456" "00015989" "90" "874" "0" "875" "0" "c.874_875del" "r.(?)" "p.(Leu292Valfs*66)" "5" "0000686457" "00015989" "90" "874" "0" "875" "0" "c.874_875del" "r.(?)" "p.(Leu292Valfs*66)" "5" "0000686458" "00015989" "90" "874" "0" "875" "0" "c.874_875del" "r.(?)" "p.(Leu292Valfs*66)" "5" "0000686459" "00015989" "90" "874" "0" "875" "0" "c.874_875del" "r.(?)" "p.(Leu292Valfs*66)" "5" "0000686460" "00015989" "90" "874" "0" "875" "0" "c.874_875del" "r.(?)" "p.(Leu292Valfs*66)" "5" "0000686461" "00015989" "90" "874" "0" "875" "0" "c.874_875del" "r.(?)" "p.(Leu292Valfs*66)" "5" "0000686462" "00015989" "90" "874" "0" "875" "0" "c.874_875del" "r.(?)" "p.(Leu292Valfs*66)" "5" "0000686463" "00015989" "90" "874" "0" "875" "0" "c.874_875del" "r.(?)" "p.(Leu292Valfs*66)" "5" "0000686464" "00015989" "90" "874" "0" "875" "0" "c.874_875del" "r.874_875del" "p.Leu292Valfs*66" "5" "0000686465" "00015989" "90" "874" "0" "875" "0" "c.874_875del" "r.874_875del" "p.Leu292Valfs*66" "5" "0000686466" "00015989" "90" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Glu71Lys)" "3" "0000686467" "00015989" "90" "233" "0" "233" "0" "c.233A>G" "r.(?)" "p.(Gln78Arg)" "3" "0000686468" "00015989" "90" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Gln118*)" "3" "0000686469" "00015989" "90" "697" "0" "697" "0" "c.697del" "r.(?)" "p.(Ala233Profs*131)" "4" "0000686470" "00015989" "90" "4" "0" "4" "0" "c.4del" "r.(?)" "p.(Ala2Profs*10)" "1" "0000686471" "00015989" "90" "764" "0" "764" "0" "c.764dupA" "r.(?)" "p.(Leu256Alafs*103)" "4" "0000686472" "00015989" "90" "764" "0" "764" "0" "c.764dup" "r.(?)" "p.(Leu256Alafs*103)" "4" "0000686473" "00015989" "90" "764" "0" "764" "0" "c.764dup" "r.764dup" "p.Leu256Alafs*103" "4" "0000686474" "00015989" "90" "790" "0" "790" "0" "c.790C>T" "r.0" "p.0" "4" "0000686475" "00015989" "90" "373" "0" "373" "0" "c.373C>T" "r.373c>u" "p.Arg125*" "3" "0000686476" "00015989" "90" "13" "0" "28" "0" "c.13_28delinsCCGCCAGCACCTGCGCCGCC" "r.13_28delinsccgccagcaccugcgccgcc" "p.Ala5Profs*47" "1" "0000686477" "00015989" "10" "880" "0" "880" "0" "c.880A>G" "r.(?)" "p.(Thr294Ala)" "5" "0000686479" "00015989" "90" "895" "0" "895" "0" "c.895G>T" "r.(?)" "p.(Glu299*)" "5" "0000686480" "00015989" "90" "2" "0" "2" "0" "c.2T>C" "r.2u>c" "p.0?" "1" "0000686481" "00015989" "90" "203" "0" "203" "0" "c.203C>A" "r.(?)" "p.(Thr68Asn)" "3" "0000686482" "00015989" "90" "208" "0" "208" "0" "c.208G>C" "r.(?)" "p.(Gly70Arg)" "3" "0000686483" "00015989" "90" "930" "0" "930" "0" "c.930C>G" "r.930c>g" "p.His310Gln" "" "0000686485" "00015989" "90" "764" "0" "764" "0" "c.764dup" "r.764dup" "p.Leu256Alafs*103" "" "0000686486" "00015989" "90" "941" "0" "941" "0" "c.941G>A" "r.914g>a" "p.Trp314*" "" "0000686487" "00015989" "90" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.0?" "" "0000686488" "00015989" "90" "706" "0" "706" "0" "c.706dup" "r.(?)" "p.(Ser236Lysfs*123)" "" "0000686489" "00015989" "90" "979" "0" "979" "0" "c.979T>C" "r.(?)" "p.(Cys327Arg)" "" "0000686490" "00015989" "90" "892" "0" "892" "0" "c.892G>T" "r.(?)" "p.(Glu298*)" "" "0000686491" "00015989" "90" "928" "0" "928" "0" "c.928C>G" "r.(?)" "p.(His310Asp)" "" "0000686492" "00015989" "90" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Arg264*)" "" "0000686493" "00015989" "10" "279" "0" "279" "0" "c.279C>T" "r.(=)" "p.(=)" "" "0000686494" "00015989" "10" "291" "0" "291" "0" "c.291A>G" "r.(=)" "p.(=)" "" "0000686495" "00015989" "90" "992" "0" "992" "0" "c.992G>A" "r.992g>a" "p.Arg331Gln" "" "0000686497" "00015989" "90" "790" "0" "790" "0" "c.790C>T" "r.790c>u" "p.Arg264*" "" "0000686502" "00015989" "90" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Asp18Asn)" "" "0000686504" "00015989" "90" "337" "0" "337" "0" "c.337del" "r.(?)" "p.(Leu113Trpfs*40)" "" "0000686505" "00015989" "90" "890" "0" "890" "0" "c.890T>C" "r.(?)" "p.(Leu297Pro)" "" "0000686506" "00015989" "50" "880" "0" "880" "0" "c.880A>G" "r.(?)" "p.(Thr294Ala)" "" "0000687274" "00015989" "90" "4" "0" "4" "0" "c.4del" "r.(?)" "p.(Ala2Profs*10)" "" "0000687275" "00015989" "90" "895" "0" "895" "0" "c.895G>T" "r.(?)" "p.(Glu299*)" "" "0000687276" "00015989" "90" "765" "0" "765" "0" "c.765dup" "r.(?)" "p.(Leu256Alafs*103)" "" "0000687277" "00015989" "90" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Arg264*)" "" "0000687369" "00015989" "10" "880" "0" "880" "0" "c.880A>G" "r.(?)" "p.(Thr294Ala)" "" "0000688061" "00015989" "50" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Arg300His)" "" "0000688062" "00015989" "30" "492" "0" "492" "0" "c.492C>G" "r.(?)" "p.(Val164=)" "" "0000717268" "00015989" "50" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343Trp)" "" "0000717269" "00015989" "30" "965" "0" "965" "0" "c.965G>A" "r.(?)" "p.(Ser322Asn)" "" "0000717270" "00015989" "30" "495" "0" "495" "0" "c.495C>T" "r.(?)" "p.(Phe165=)" "" "0000799166" "00015989" "30" "876" "0" "876" "0" "c.876G>T" "r.(?)" "p.(Leu292=)" "" "0000799167" "00015989" "30" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Gly228Arg)" "" "0000799169" "00015989" "30" "497" "0" "497" "0" "c.497T>C" "r.(?)" "p.(Val166Ala)" "" "0000816262" "00015989" "50" "113" "-1" "113" "-1" "c.113-1G>A" "r.spl" "p.(?)" "" "0000857341" "00015989" "50" "18526" "0" "18526" "0" "c.*17485G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 54 "{{screeningid}}" "{{variantid}}" "0000311149" "0000686451" "0000311150" "0000686452" "0000311151" "0000686453" "0000311152" "0000686454" "0000311153" "0000686455" "0000311154" "0000686456" "0000311155" "0000686457" "0000311156" "0000686458" "0000311157" "0000686459" "0000311158" "0000686460" "0000311159" "0000686461" "0000311160" "0000686462" "0000311161" "0000686463" "0000311162" "0000686464" "0000311163" "0000686465" "0000311164" "0000686466" "0000311165" "0000686467" "0000311166" "0000686468" "0000311167" "0000686469" "0000311168" "0000686470" "0000311168" "0000686490" "0000311169" "0000686471" "0000311169" "0000686491" "0000311170" "0000686472" "0000311170" "0000686492" "0000311171" "0000686473" "0000311171" "0000686495" "0000311172" "0000686474" "0000311172" "0000686486" "0000311173" "0000686475" "0000311173" "0000686483" "0000311174" "0000686476" "0000311174" "0000686485" "0000311175" "0000686477" "0000311177" "0000686479" "0000311177" "0000686502" "0000311178" "0000686480" "0000311178" "0000686497" "0000311179" "0000686481" "0000311180" "0000686482" "0000311182" "0000686487" "0000311183" "0000686488" "0000311184" "0000686489" "0000311185" "0000686493" "0000311186" "0000686494" "0000311190" "0000686504" "0000311190" "0000686505" "0000311190" "0000686506" "0000311765" "0000687274" "0000311765" "0000687275" "0000311766" "0000687276" "0000311766" "0000687277" "0000311818" "0000687369" "0000388104" "0000816262"