### LOVD-version 3000-25c ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PEX26) # 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}}" "PEX26" "peroxisomal biogenesis factor 26" "22" "q11.21" "unknown" "NG_008339.1" "UD_132084468905" "" "https://www.LOVD.nl/PEX26" "" "1" "22965" "55670" "608666" "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/PEX26_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 16:13:37" "00000" "2020-09-15 15:50:26" ## 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}}" "00015998" "PEX26" "transcript variant 1" "001" "NM_017929.5" "" "NP_060399.1" "" "" "" "-209" "3874" "918" "18560686" "18573797" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "03765" "PBD-7A" "peroxisome biogenesis disorder, type 7A (PBD-7A)" "" "614872" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:59:30" "03766" "PBD-7B" "peroxisome biogenesis disorder, type 7B (PBD-7B)" "" "614873" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:59:30" "05079" "PBD" "peroxisome biogenesis disorder (Zellweger syndrome)" "" "" "" "" "" "00006" "2015-09-25 13:40:55" "00006" "2020-09-04 17:15:58" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "PEX26" "00139" "PEX26" "03765" "PEX26" "03766" ## Individuals ## Do not remove or alter this header ## ## Count = 30 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{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}}" "00283646" "" "" "" "1" "00004" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat604" "00293058" "" "" "" "3" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293059" "" "" "" "14" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305936" "" "" "" "1" "03695" "" "" "M" "" "China" "" "" "" "" "" "34" "00309980" "" "" "" "1" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00309981" "" "" "" "1" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00309982" "" "" "" "1" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00309983" "" "" "" "1" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00309984" "" "" "" "1" "02015" "{PMID:Steinberg 2004:15542397}" "" "" "" "" "" "0" "" "" "" "" "00309985" "" "" "" "1" "02015" "{PMID:Matsumoto 2003:12851857}, {PMID:Weller 2005:15858711}" "" "F" "" "" "" "0" "" "" "" "GM08771/PBD114" "00309986" "" "" "" "1" "02015" "{PMID:Matsumoto 2003:12717447}, {PMID:Matsumoto 2003:12851857}" "" "" "" "Japan" "" "0" "" "" "" "ZP167/GM11335/" "00309987" "" "" "" "1" "02015" "{PMID:Matsumoto 2003:12851857}, {PMID:Weller 2005:15858711}" "" "F" "" "" "" "0" "" "" "" "PBD063/GM16865" "00309988" "" "" "" "1" "02015" "{PMID:Weller 2005:15858711}" "" "" "" "" "" "0" "" "" "" "PBD059" "00309989" "" "" "" "1" "02015" "{PMID:Weller 2005:15858711}" "" "" "" "" "" "0" "" "" "" "PBD055" "00309990" "" "" "" "1" "02015" "{PMID:Weller 2005:15858711}" "" "" "" "" "" "0" "" "" "" "PBD110" "00309991" "" "" "" "1" "02015" "{PMID:Weller 2005:15858711}" "" "" "" "" "" "0" "" "" "" "PBD109" "00309992" "" "" "" "1" "02015" "{PMID:Weller 2005:15858711}" "" "" "" "" "" "0" "" "" "" "PBD057" "00309993" "" "" "" "1" "02015" "{PMID:Weller 2005:15858711}" "" "" "" "" "" "0" "" "" "" "PBD111" "00309994" "" "" "" "1" "00006" "{PMID:Matsumoto 2003:12851857}" "" "M" "" "" "" "0" "" "" "" "PDL35167" "00309995" "" "" "" "1" "02015" "{PMID:Matsumoto 2003:12851857}" "" "F" "" "" "" "0" "" "" "" "GM07371" "00309996" "" "" "" "1" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00309997" "" "" "" "1" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00309998" "" "" "" "1" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00309999" "" "" "" "2" "00006" "{PMID:Matsumoto 2003:12851857}" "2-generation family, 2 affected (F, M)" "F;M" "" "Japan" "" "0" "" "" "" "PatA-02/06" "00310000" "" "" "" "4" "00006" "{PMID:Al-Sayed 2007:17336976}" "2-generation family, 4 affected sibs, unaffected heterozygous carrier parents" "" "yes" "Saudi Arabia" "" "0" "" "" "" "family" "00310622" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat676" "00310649" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat714" "00310650" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat632" "00310651" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "Pat634" "00310669" "" "" "" "1" "00006" "{PMID:Yik 2009:19105186}" "" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 30 "{{individualid}}" "{{diseaseid}}" "00283646" "05079" "00293058" "00198" "00293059" "00198" "00305936" "03765" "00309980" "05079" "00309981" "05079" "00309982" "05079" "00309983" "05079" "00309984" "05079" "00309985" "05079" "00309986" "05079" "00309987" "05079" "00309988" "05079" "00309989" "05079" "00309990" "05079" "00309991" "05079" "00309992" "05079" "00309993" "05079" "00309994" "05079" "00309995" "05079" "00309996" "05079" "00309997" "05079" "00309998" "05079" "00309999" "05079" "00310000" "05079" "00310622" "05079" "00310649" "05079" "00310650" "05079" "00310651" "05079" "00310669" "05079" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03765, 03766, 05079 ## Count = 27 "{{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}}" "0000218976" "05079" "00283646" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000231786" "03765" "00305936" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000235296" "05079" "00309980" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235297" "05079" "00309981" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235298" "05079" "00309982" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235299" "05079" "00309983" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235300" "05079" "00309984" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235301" "05079" "00309985" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235302" "05079" "00309986" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235303" "05079" "00309987" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235304" "05079" "00309988" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235305" "05079" "00309989" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235306" "05079" "00309990" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235307" "05079" "00309991" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235308" "05079" "00309992" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "infantile Refsum disease" "" "0000235309" "05079" "00309993" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235310" "05079" "00309995" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235311" "05079" "00309996" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235312" "05079" "00309997" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235313" "05079" "00309998" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235314" "05079" "00309994" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235315" "05079" "00309999" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235316" "05079" "00310000" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235911" "05079" "00310622" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235938" "05079" "00310649" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235939" "05079" "00310650" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235940" "05079" "00310651" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 30 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000284796" "00283646" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000294226" "00293058" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294227" "00293059" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307067" "00305936" "1" "03695" "03695" "2020-07-05 20:17:03" "" "" "SEQ-NG" "DNA" "" "" "0000311128" "00309980" "1" "02015" "00006" "2006-05-07 19:50:00" "" "" "SEQ" "DNA" "" "" "0000311129" "00309981" "1" "02015" "00006" "2006-05-07 19:50:00" "" "" "SEQ" "DNA" "" "" "0000311130" "00309982" "1" "02015" "00006" "2006-05-07 19:50:00" "" "" "SEQ" "DNA" "" "" "0000311131" "00309983" "1" "02015" "00006" "2006-05-07 19:50:00" "" "" "SEQ" "DNA" "" "" "0000311132" "00309984" "1" "02015" "00006" "2006-05-07 19:50:00" "" "" "SEQ" "DNA" "" "" "0000311133" "00309985" "1" "02015" "00006" "2006-05-07 19:50:00" "" "" "SEQ" "DNA" "" "" "0000311134" "00309986" "1" "02015" "00006" "2006-05-07 19:50:00" "" "" "SEQ" "DNA" "" "" "0000311135" "00309987" "1" "02015" "00006" "2006-05-07 19:50:00" "" "" "SEQ" "DNA" "" "" "0000311136" "00309988" "1" "02015" "00006" "2006-05-07 19:50:00" "00006" "2020-09-07 19:51:29" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311137" "00309989" "1" "02015" "00006" "2006-05-07 19:50:00" "" "" "SEQ" "DNA" "" "" "0000311138" "00309990" "1" "02015" "00006" "2006-05-07 19:50:00" "" "" "SEQ" "DNA" "" "" "0000311139" "00309991" "1" "02015" "00006" "2006-05-07 19:50:00" "" "" "SEQ" "DNA" "" "" "0000311140" "00309992" "1" "02015" "00006" "2006-05-07 19:50:00" "" "" "SEQ" "DNA" "" "" "0000311141" "00309993" "1" "02015" "00006" "2006-05-07 19:50:00" "" "" "SEQ" "DNA" "" "" "0000311142" "00309994" "1" "02015" "00006" "2006-10-28 15:14:00" "" "" "SEQ" "DNA" "" "" "0000311143" "00309995" "1" "02015" "00006" "2009-06-12 14:05:54" "" "" "SEQ" "DNA" "" "" "0000311144" "00309996" "1" "03774" "00006" "2012-05-07 13:14:32" "" "" "SEQ" "DNA" "" "" "0000311145" "00309997" "1" "03774" "00006" "2012-05-07 13:18:32" "" "" "SEQ" "DNA" "" "" "0000311146" "00309998" "1" "03774" "00006" "2012-05-07 13:20:58" "" "" "SEQ" "DNA" "" "" "0000311147" "00309999" "1" "00006" "00006" "2020-09-07 20:29:26" "" "" "SEQ" "DNA" "" "" "0000311148" "00310000" "1" "00006" "00006" "2020-09-07 21:00:51" "" "" "SEQ" "DNA" "" "" "0000311774" "00310622" "1" "00006" "00006" "2020-09-13 09:39:18" "" "" "SEQ" "DNA" "" "" "0000311801" "00310649" "1" "00006" "00006" "2020-09-13 09:39:18" "" "" "SEQ" "DNA" "" "" "0000311802" "00310650" "1" "00006" "00006" "2020-09-13 09:39:18" "" "" "SEQ" "DNA" "" "" "0000311803" "00310651" "1" "00006" "00006" "2020-09-13 09:39:18" "" "" "SEQ" "DNA" "" "" "0000311821" "00310669" "1" "00006" "00006" "2020-09-13 10:09:13" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{geneid}}" "0000284796" "PEX1" "0000307067" "PEX26" "0000311128" "PEX26" "0000311129" "PEX26" "0000311130" "PEX26" "0000311131" "PEX26" "0000311132" "PEX26" "0000311133" "PEX26" "0000311134" "PEX26" "0000311135" "PEX26" "0000311136" "PEX26" "0000311137" "PEX26" "0000311138" "PEX26" "0000311139" "PEX26" "0000311140" "PEX26" "0000311141" "PEX26" "0000311142" "PEX26" "0000311143" "PEX26" "0000311144" "PEX26" "0000311145" "PEX26" "0000311146" "PEX26" "0000311147" "PEX26" "0000311148" "PEX26" "0000311774" "PEX26" "0000311801" "PEX26" "0000311802" "PEX26" "0000311803" "PEX26" "0000311821" "PEX26" ## 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 = 60 "{{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}}" "0000255336" "0" "30" "22" "18566506" "18566506" "subst" "0.000443736" "01943" "PEX26_000027" "g.18566506A>G" "" "" "" "PEX26(NM_001127649.2):c.667+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18083740A>G" "" "likely benign" "" "0000296909" "0" "10" "22" "18566288" "18566288" "subst" "0.0101334" "02325" "PEX26_000018" "g.18566288C>G" "" "" "" "PEX26(NM_001127649.2):c.457C>G (p.L153V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18083522C>G" "" "benign" "" "0000300725" "0" "90" "22" "18562701" "18562701" "subst" "0.0000690299" "02326" "PEX26_000005" "g.18562701C>T" "" "" "" "PEX26(NM_001127649.2):c.292C>T (p.R98W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18079935C>T" "" "pathogenic" "" "0000305490" "0" "10" "22" "18561272" "18561272" "subst" "0.00296902" "01943" "PEX26_000040" "g.18561272C>T" "" "" "" "PEX26(NM_001127649.2):c.130C>T (p.L44F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18078506C>T" "" "benign" "" "0000305491" "0" "50" "22" "18561174" "18561174" "subst" "0.000057346" "01943" "PEX26_000041" "g.18561174C>T" "" "" "" "PEX26(NM_001127649.2):c.32C>T (p.P11L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18078408C>T" "" "VUS" "" "0000328848" "0" "50" "22" "18566459" "18566459" "subst" "0.00000407286" "01804" "PEX26_000026" "g.18566459C>T" "" "" "" "PEX26(NM_001127649.2):c.628C>T (p.(His210Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18083693C>T" "" "VUS" "" "0000571267" "0" "30" "22" "18561342" "18561342" "subst" "0.00134725" "01943" "PEX26_000028" "g.18561342A>G" "" "" "" "PEX26(NM_001127649.2):c.200A>G (p.N67S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18078576A>G" "" "likely benign" "" "0000571268" "0" "70" "22" "18562701" "18562701" "subst" "0.0000690299" "02327" "PEX26_000005" "g.18562701C>T" "" "" "" "PEX26(NM_001127649.2):c.292C>T (p.R98W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18079935C>T" "" "likely pathogenic" "" "0000571270" "0" "30" "22" "18567873" "18567873" "subst" "0.000121992" "01804" "PEX26_000030" "g.18567873G>T" "" "" "" "PEX26(NM_001127649.2):c.668-5G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18085107G>T" "" "likely benign" "" "0000571272" "0" "30" "22" "18570834" "18570834" "subst" "0.00109298" "01943" "PEX26_000032" "g.18570834G>A" "" "" "" "PEX26(NM_001127649.2):c.911G>A (p.R304H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18088068G>A" "" "likely benign" "" "0000571273" "0" "10" "22" "18571008" "18571008" "subst" "0.54533" "02325" "PEX26_000033" "g.18571008G>A" "" "" "" "PEX26(NM_001127649.2):c.*167G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18088242G>A" "" "benign" "" "0000618446" "0" "50" "22" "18566466" "18566466" "subst" "0.0000652491" "02325" "PEX26_000034" "g.18566466G>T" "" "" "" "PEX26(NM_001127649.2):c.635G>T (p.G212V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18083700G>T" "" "VUS" "" "0000624253" "0" "30" "22" "18567938" "18567938" "subst" "0.00257462" "01943" "PEX26_000035" "g.18567938C>T" "" "" "" "PEX26(NM_001127649.2):c.728C>T (p.A243V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18085172C>T" "" "likely benign" "" "0000650915" "1" "10" "22" "18566288" "18566288" "subst" "0.0101334" "03575" "PEX26_000018" "g.18566288C>G" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs12484657}" "Germline" "" "rs12484657" "0" "" "" "g.18083522C>G" "" "benign" "" "0000650916" "1" "50" "22" "18573003" "18573003" "subst" "0" "03575" "PEX26_000036" "g.18573003G>A" "14/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "14 heterozygous, no homozygous; {DB:CLININrs45489191}" "Germline" "" "rs45489191" "0" "" "" "g.18090237G>A" "" "VUS" "" "0000658869" "0" "90" "22" "18562701" "18562701" "subst" "0.0000690299" "01943" "PEX26_000005" "g.18562701C>T" "" "" "" "PEX26(NM_001127649.2):c.292C>T (p.R98W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18079935C>T" "" "pathogenic" "" "0000673609" "2" "70" "22" "18561176" "18561176" "del" "0" "03695" "PEX26_000037" "g.18561176del" "" "" "" "29delC" "" "Germline" "" "" "0" "" "" "g.18078410del" "" "likely pathogenic" "" "0000673610" "2" "70" "22" "18562768" "18562768" "subst" "0" "03695" "PEX26_000038" "g.18562768T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.18080002T>G" "" "likely pathogenic" "" "0000681772" "0" "30" "22" "18561240" "18561240" "subst" "0.000149346" "01943" "PEX26_000039" "g.18561240C>T" "" "" "" "PEX26(NM_001127649.2):c.98C>T (p.P33L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000686421" "1" "90" "22" "18561179" "18561180" "del" "0" "02015" "PEX26_000001" "g.18561179_18561180del" "" "{PMID:Steinberg 2004:15542397}" "" "37_38delAG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686422" "1" "90" "22" "18561334" "18561358" "del" "0" "02015" "PEX26_000003" "g.18561334_18561358del" "" "{PMID:Steinberg 2004:15542397}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686423" "1" "90" "22" "18562701" "18562701" "subst" "0.0000690299" "02015" "PEX26_000005" "g.18562701C>T" "" "{PMID:Steinberg 2004:15542397}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686424" "3" "90" "22" "18562701" "18562701" "subst" "0.0000690299" "02015" "PEX26_000005" "g.18562701C>T" "" "{PMID:Steinberg 2004:15542397}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686425" "3" "90" "22" "18562705" "18562705" "subst" "0" "02015" "PEX26_000007" "g.18562705G>A" "" "{PMID:Steinberg 2004:15542397}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686426" "1" "90" "22" "18561144" "18561144" "subst" "0" "02015" "PEX26_000008" "g.18561144T>C" "" "{PMID:Matsumoto 2003:12851857}, {PMID:Weller 2005:15858711}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686427" "3" "90" "22" "18562701" "18562701" "subst" "0.0000690299" "02015" "PEX26_000005" "g.18562701C>T" "" "{PMID:Matsumoto 2003:12717447}, {PMID:Matsumoto 2003:12851857}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686428" "1" "90" "22" "18562663" "18562663" "dup" "0" "02015" "PEX26_000012" "g.18562663dup" "" "{PMID:Matsumoto 2003:12851857}, {PMID:Weller 2005:15858711}" "" "254_255insT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686429" "3" "90" "22" "18561373" "18561373" "subst" "0" "02015" "PEX26_000013" "g.18561373G>T" "" "{PMID:Weller 2005:15858711}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686430" "1" "90" "22" "18562759" "18562759" "subst" "0.0000081215" "02015" "PEX26_000015" "g.18562759C>T" "" "{PMID:Weller 2005:15858711}" "" "305C>T (P117L)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686431" "1" "90" "22" "18561273" "18561273" "subst" "0" "02015" "PEX26_000016" "g.18561273T>C" "" "{PMID:Weller 2005:15858711}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686432" "1" "90" "22" "18562701" "18562701" "subst" "0.0000690299" "02015" "PEX26_000005" "g.18562701C>T" "" "{PMID:Weller 2005:15858711}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686433" "3" "90" "22" "18562701" "18562701" "subst" "0.0000690299" "02015" "PEX26_000005" "g.18562701C>T" "" "{PMID:Gootjes 2003:14630978}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686434" "3" "90" "22" "18562701" "18562701" "subst" "0.0000690299" "02015" "PEX26_000005" "g.18562701C>T" "" "{PMID:Weller 2005:15858711}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686435" "3" "90" "22" "18562701" "18562701" "subst" "0.0000690299" "00006" "PEX26_000005" "g.18562701C>T" "" "{PMID:Matsumoto 2003:12851857}" "" "C292T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686436" "3" "90" "22" "18561176" "18561176" "dup" "0" "02015" "PEX26_000010" "g.18561176dup" "" "{PMID:Matsumoto 2003:12851857}" "" "34_35insC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686437" "3" "90" "22" "18561215" "18561221" "del" "0" "03774" "PEX26_000021" "g.18561215_18561221del" "" "{PMID:Ebberink 2011:21031596}" "" "73_79delGTGCGCG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686438" "3" "90" "22" "18561327" "18561327" "subst" "0" "03774" "PEX26_000022" "g.18561327G>A" "" "{PMID:Ebberink 2011:21031596}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686439" "3" "90" "22" "18562724" "18562724" "subst" "0" "03774" "PEX26_000023" "g.18562724G>A" "" "{PMID:Ebberink 2011:21031596}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686440" "2" "90" "22" "18562701" "18562701" "subst" "0.0000690299" "00006" "PEX26_000005" "g.18562701C>T" "" "{PMID:Matsumoto 2003:12851857}, {PMID:Weller 2005:15858711}" "" "C292T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686441" "2" "90" "22" "18561276" "18561276" "subst" "0" "00006" "PEX26_000009" "g.18561276T>C" "" "{PMID:Matsumoto 2003:12851857}, {PMID:Weller 2005:15858711}" "" "T134C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686442" "2" "90" "22" "18570785" "18570785" "del" "0" "00006" "PEX26_000014" "g.18570785del" "" "{PMID:Weller 2005:15858711}" "" "862delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686443" "2" "50" "22" "18566288" "18566288" "subst" "0.0101334" "00006" "PEX26_000018" "g.18566288C>G" "" "{PMID:Weller 2005:15858711}" "" "" "" "Germline" "" "rs12484657" "0" "" "" "" "" "VUS" "" "0000686444" "2" "90" "22" "18562701" "18562701" "subst" "0.0000690299" "00006" "PEX26_000005" "g.18562701C>T" "" "{PMID:Weller 2005:15858711}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686445" "2" "90" "22" "18566257" "18566379" "dup" "0" "00006" "PEX26_000017" "g.18566257_18566379dup" "" "{PMID:Weller 2005:15858711}" "" "c.426_548dup122insT (A143_V182dup+G183V)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686446" "3" "90" "22" "18562674" "18562674" "subst" "0" "00006" "PEX26_000011" "g.18562674G>A" "" "{PMID:Matsumoto 2003:12851857}" "" "G265A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686447" "2" "90" "22" "18566500" "18566500" "subst" "0" "00006" "PEX26_000002" "g.18566500T>C" "" "{PMID:Steinberg 2004:15542397}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686448" "2" "90" "22" "18562762" "18562762" "subst" "0.0000121826" "00006" "PEX26_000004" "g.18562762C>G" "" "{PMID:Steinberg 2004:15542397}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686449" "2" "90" "22" "18566405" "18566405" "subst" "0.000012187" "00006" "PEX26_000006" "g.18566405C>T" "" "{PMID:Steinberg 2004:15542397}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686450" "3" "90" "22" "18562705" "18562705" "subst" "0" "00006" "PEX26_000007" "g.18562705G>A" "" "{PMID:Al-Sayed 2007:17336976}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000687286" "3" "90" "22" "18562701" "18562701" "subst" "0.0000690299" "00006" "PEX26_000005" "g.18562701C>T" "" "{PMID:Yik 2009:19105186}, {DB:DVD}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000687294" "3" "90" "22" "18562705" "18562705" "subst" "0" "00006" "PEX26_000007" "g.18562705G>A" "" "{PMID:Yik 2009:19105186}" "" "The entered coordinates do not agree with the intron/exon boundaries for the selected transcript" "" "Germline" "" "" "0" "" "" "g.18079939G>A" "" "pathogenic (recessive)" "" "0000687321" "1" "90" "22" "18561334" "18561358" "del" "0" "00006" "PEX26_000003" "g.18561334_18561358del" "" "{PMID:Yik 2009:19105186}" "" "37_38delAG" "" "Germline" "" "" "0" "" "" "g.18078568_18078592del" "" "pathogenic (recessive)" "" "0000687322" "1" "90" "22" "18561179" "18561180" "del" "0" "00006" "PEX26_000001" "g.18561179_18561180del" "" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "g.18078413_18078414del" "" "pathogenic (recessive)" "" "0000687323" "1" "90" "22" "18562701" "18562701" "subst" "0.0000690299" "00006" "PEX26_000005" "g.18562701C>T" "" "{PMID:Yik 2009:19105186}" "" "1714_1715delCA" "" "Germline" "" "" "0" "" "" "g.18079935C>T" "" "pathogenic (recessive)" "" "0000687349" "2" "90" "22" "18562762" "18562762" "subst" "0.0000121826" "00006" "PEX26_000004" "g.18562762C>G" "" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "g.18079996C>G" "" "pathogenic (recessive)" "" "0000687350" "2" "90" "22" "18566500" "18566500" "subst" "0" "00006" "PEX26_000002" "g.18566500T>C" "" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "g.18083734T>C" "" "pathogenic (recessive)" "" "0000687351" "2" "90" "22" "18566405" "18566405" "subst" "0.000012187" "00006" "PEX26_000006" "g.18566405C>T" "" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "g.18083639C>T" "" "pathogenic (recessive)" "" "0000687372" "0" "10" "22" "18566288" "18566288" "subst" "0.0101334" "00006" "PEX26_000018" "g.18566288C>G" "0.03" "{PMID:Yik 2009:19105186}" "" "" "" "Germline" "" "" "0" "" "" "g.18083522C>G" "" "benign" "" "0000693098" "0" "30" "22" "18566240" "18566240" "subst" "0.00156382" "01943" "PEX26_000029" "g.18566240G>C" "" "" "" "PEX26(NM_001127649.2):c.409G>C (p.V137L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693099" "0" "50" "22" "18567953" "18567953" "subst" "0.00000406068" "01943" "PEX26_000043" "g.18567953T>C" "" "" "" "PEX26(NM_001127649.2):c.743T>C (p.F248S)" "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 PEX26 ## Count = 60 "{{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}}" "0000255336" "00015998" "30" "667" "8" "667" "8" "c.667+8A>G" "r.(=)" "p.(=)" "" "0000296909" "00015998" "10" "457" "0" "457" "0" "c.457C>G" "r.(?)" "p.(Leu153Val)" "" "0000300725" "00015998" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "" "0000305490" "00015998" "10" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Leu44Phe)" "" "0000305491" "00015998" "50" "32" "0" "32" "0" "c.32C>T" "r.(?)" "p.(Pro11Leu)" "" "0000328848" "00015998" "50" "628" "0" "628" "0" "c.628C>T" "r.(?)" "p.(His210Tyr)" "" "0000571267" "00015998" "30" "200" "0" "200" "0" "c.200A>G" "r.(?)" "p.(Asn67Ser)" "" "0000571268" "00015998" "70" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "" "0000571270" "00015998" "30" "668" "-5" "668" "-5" "c.668-5G>T" "r.spl?" "p.?" "" "0000571272" "00015998" "30" "911" "0" "911" "0" "c.911G>A" "r.(?)" "p.(Arg304His)" "" "0000571273" "00015998" "10" "1085" "0" "1085" "0" "c.*167G>A" "r.(=)" "p.(=)" "" "0000618446" "00015998" "50" "635" "0" "635" "0" "c.635G>T" "r.(?)" "p.(Gly212Val)" "" "0000624253" "00015998" "30" "728" "0" "728" "0" "c.728C>T" "r.(?)" "p.(Ala243Val)" "" "0000650915" "00015998" "10" "457" "0" "457" "0" "c.457C>G" "r.(?)" "p.(Leu153Val)" "" "0000650916" "00015998" "50" "3080" "0" "3080" "0" "c.*2162G>A" "r.(=)" "p.(=)" "" "0000658869" "00015998" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "" "0000673609" "00015998" "70" "34" "0" "34" "0" "c.34del" "r.(?)" "p.(Leu12Serfs*70)" "" "0000673610" "00015998" "70" "359" "0" "359" "0" "c.359T>G" "r.(?)" "p.(Val120Gly)" "" "0000681772" "00015998" "30" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Pro33Leu)" "" "0000686421" "00015998" "90" "37" "0" "38" "0" "c.37_38del" "r.(?)" "p.(Arg13Glyfs*101)" "2" "0000686422" "00015998" "90" "192" "0" "216" "0" "c.192_216del" "r.(?)" "p.(Ser64Argfs*10)" "2" "0000686423" "00015998" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "3" "0000686424" "00015998" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "3" "0000686425" "00015998" "90" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Trp99*)" "3" "0000686426" "00015998" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.0?" "2" "0000686427" "00015998" "90" "292" "0" "292" "0" "c.292C>T" "r.292c>u" "p.Arg98Trp" "3" "0000686428" "00015998" "90" "254" "0" "254" "0" "c.254dup" "r.(?)" "p.(Cys86Valfs*29)" "3" "0000686429" "00015998" "90" "230" "1" "230" "1" "c.230+1G>T" "r.[230_231ins[u;230+2_230+173],230_231ins[u;230+2_230+236],230_231ins[u;230+2_231-618]]" "p.?" "2i" "0000686430" "00015998" "90" "350" "0" "350" "0" "c.350C>T" "r.(?)" "p.(Pro117Leu)" "3" "0000686431" "00015998" "90" "131" "0" "131" "0" "c.131T>C" "r.(?)" "p.(Leu44Pro)" "2" "0000686432" "00015998" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "3" "0000686433" "00015998" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "3" "0000686434" "00015998" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "3" "0000686435" "00015998" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "4" "0000686436" "00015998" "90" "34" "0" "34" "0" "c.34dup" "r.(?)" "p.(Leu12Profs*103)" "1" "0000686437" "00015998" "90" "73" "0" "79" "0" "c.73_79del" "r.(?)" "p.(Val25Argfs*55)" "2" "0000686438" "00015998" "90" "185" "0" "185" "0" "c.185G>A" "r.(?)" "p.(Trp62*)" "2" "0000686439" "00015998" "90" "315" "0" "315" "0" "c.315G>A" "r.(?)" "p.(Trp105*)" "3" "0000686440" "00015998" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "" "0000686441" "00015998" "90" "134" "0" "134" "0" "c.134T>C" "r.(?)" "p.(Leu45Pro)" "" "0000686442" "00015998" "90" "862" "0" "862" "0" "c.862del" "r.(?)" "p.(Arg288Alafs*79)" "" "0000686443" "00015998" "50" "457" "0" "457" "0" "c.457C>G" "r.(?)" "p.(Leu153Val)" "" "0000686444" "00015998" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "" "0000686445" "00015998" "90" "547" "0" "548" "0" "c.547_548ins[T;426_547]" "r.(?)" "p.[Gly183Val;insAla143_Val182]" "" "0000686446" "00015998" "90" "265" "0" "265" "0" "c.265G>A" "r.(?)" "p.(Gly89Arg)" "" "0000686447" "00015998" "90" "667" "2" "667" "2" "c.667+2T>C" "r.spl" "p.?" "" "0000686448" "00015998" "90" "353" "0" "353" "0" "c.353C>G" "r.(?)" "p.(Pro118Arg)" "" "0000686449" "00015998" "90" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Arg192*)" "" "0000686450" "00015998" "90" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Trp99*)" "" "0000687286" "00015998" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "" "0000687294" "00015998" "90" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Trp99*)" "3" "0000687321" "00015998" "90" "192" "0" "216" "0" "c.192_216del" "r.(?)" "p.(Ser64Argfs*10)" "2" "0000687322" "00015998" "90" "37" "0" "38" "0" "c.37_38del" "r.(?)" "p.(Arg13Glyfs*101)" "2" "0000687323" "00015998" "90" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "3" "0000687349" "00015998" "90" "353" "0" "353" "0" "c.353C>G" "r.(?)" "p.(Pro118Arg)" "3" "0000687350" "00015998" "90" "667" "2" "667" "2" "c.667+2T>C" "r.spl" "p.?" "3i" "0000687351" "00015998" "90" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Arg192*)" "4" "0000687372" "00015998" "10" "457" "0" "457" "0" "c.457C>G" "r.(?)" "p.(Leu153Val)" "" "0000693098" "00015998" "30" "409" "0" "409" "0" "c.409G>C" "r.(?)" "p.(Val137Leu)" "" "0000693099" "00015998" "50" "743" "0" "743" "0" "c.743T>C" "r.(?)" "p.(Phe248Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 43 "{{screeningid}}" "{{variantid}}" "0000284796" "0000687286" "0000294226" "0000650915" "0000294227" "0000650916" "0000307067" "0000673609" "0000307067" "0000673610" "0000311128" "0000686421" "0000311128" "0000686447" "0000311129" "0000686422" "0000311129" "0000686448" "0000311130" "0000686423" "0000311130" "0000686449" "0000311131" "0000686424" "0000311132" "0000686425" "0000311133" "0000686426" "0000311133" "0000686441" "0000311134" "0000686427" "0000311135" "0000686428" "0000311135" "0000686440" "0000311136" "0000686429" "0000311137" "0000686430" "0000311137" "0000686442" "0000311137" "0000686443" "0000311138" "0000686431" "0000311138" "0000686444" "0000311139" "0000686432" "0000311139" "0000686445" "0000311140" "0000686433" "0000311141" "0000686434" "0000311142" "0000686435" "0000311143" "0000686436" "0000311144" "0000686437" "0000311145" "0000686438" "0000311146" "0000686439" "0000311147" "0000686446" "0000311148" "0000686450" "0000311774" "0000687294" "0000311801" "0000687321" "0000311801" "0000687349" "0000311802" "0000687322" "0000311802" "0000687350" "0000311803" "0000687323" "0000311803" "0000687351" "0000311821" "0000687372"