### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PEX5) # 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}}" "PEX5" "peroxisomal biogenesis factor 5" "12" "p" "unknown" "NG_008448.1" "UD_132084443846" "" "https://www.LOVD.nl/PEX5" "" "1" "9719" "5830" "600414" "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/PEX5_codingDNA.html" "1" "" " This database is one of the dbPEX gene variant databases.\r\n
\r\n
" "-1" "" "-1" "00001" "2006-10-22 00:00:00" "00006" "2020-09-10 16:26:56" "00000" "2026-01-20 18:57:21" ## 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}}" "00015985" "PEX5" "transcript variant 2" "005" "NM_000319.4" "" "NP_000310.2" "" "" "" "-16" "3156" "1896" "7342958" "7364079" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "2024-11-23 09:38:12" "01634" "PBD2B" "peroxisome biogenesis disorder, type 2B (PBD2B)" "AR" "202370" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-07 10:37:47" "01703" "PBD2A" "peroxisome biogenesis disorder, type 2A (PBD2A)" "AR" "214110" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-07 10:38:22" "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" "05829" "RCDP5" "chondrodysplasia punctata, rhizomelic, type 5 (RCDP5)" "AR" "616716" "" "" "" "00006" "2020-09-07 10:40:32" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "PEX5" "00139" "PEX5" "01634" "PEX5" "01703" "PEX5" "05829" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00274154" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "no family history" "M" "" "Poland" "" "0" "" "" "" "Pat20" "00290794" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290795" "" "" "" "147" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304379" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309933" "" "" "" "1" "" "02015" "{PMID:Dodt 1995:7719337}, {PMID:Shimozawa 1999:10462504}" "" "" "" "United States" "" "0" "" "" "Middle East" "PBD018/2-05" "00309935" "" "" "" "1" "" "02015" "{PMID:Ebberink 2008:18712838}" "" "" "" "" "" "0" "" "" "" "" "00309936" "" "" "" "1" "" "02015" "{PMID:Dodt 1995:7719337}, {PMID:Shimozawa 1999:10462504}" "" "" "" "" "" "0" "" "" "" "PBD005/2-01" "00309937" "" "" "" "1" "" "02015" "{PMID:Ebberink 2008:18712838}" "" "" "" "" "" "0" "" "" "" "" "00309938" "" "" "" "1" "" "02015" "{PMID:Ebberink 2008:18712838}" "" "" "" "" "" "0" "" "" "" "" "00309939" "" "" "" "1" "" "02015" "{PMID:Shimozawa 1999:10462504}" "" "" "" "" "" "0" "" "" "" "S-03" "00309941" "" "" "" "1" "" "02015" "{PMID:Ebberink 2008:18712838}" "" "" "" "" "" "0" "" "" "" "" "00309943" "" "" "" "1" "" "02015" "{PMID:Ebberink 2008:18712838}" "" "" "" "" "" "0" "" "" "" "" "00309944" "" "" "" "1" "" "02015" "{PMID:Ebberink 2008:18712838}" "" "" "" "" "" "0" "" "" "" "" "00309945" "" "" "" "1" "" "02015" "{PMID:Ebberink 2008:18712838}" "" "" "" "" "" "0" "" "" "" "" "00309946" "" "" "" "1" "" "02015" "{PMID:Ebberink 2008:18712838}" "2 patients" "" "" "" "" "0" "" "" "" "" "00309947" "" "" "" "1" "" "02015" "{PMID:Ebberink 2008:18712838}" "" "" "" "" "" "0" "" "" "" "" "00309948" "" "" "" "1" "" "02015" "{PMID:Ebberink 2008:18712838}" "" "" "" "" "" "0" "" "" "" "" "00426944" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 48, individual 57" "F" "" "" "" "0" "" "" "" "48_57" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00274154" "00198" "00290794" "00198" "00290795" "00198" "00304379" "00198" "00309933" "05079" "00309935" "05079" "00309936" "05079" "00309937" "05079" "00309938" "05079" "00309939" "05079" "00309941" "05079" "00309943" "05079" "00309944" "05079" "00309945" "05079" "00309946" "05079" "00309947" "05079" "00309948" "05079" "00426944" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01634, 01703, 04214, 05079, 05829 ## Count = 15 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000209099" "00198" "00274154" "00006" "Familial, autosomal recessive" "" "mitochondrial disease criteria score 4" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000235250" "05079" "00309933" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "neonatal adrenoleukodystrophy" "" "0000235252" "05079" "00309935" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235253" "05079" "00309936" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235254" "05079" "00309937" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235255" "05079" "00309938" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235256" "05079" "00309939" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235258" "05079" "00309941" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235260" "05079" "00309943" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235261" "05079" "00309944" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235262" "05079" "00309945" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235263" "05079" "00309946" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235264" "05079" "00309947" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235265" "05079" "00309948" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000318082" "04214" "00426944" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000275309" "00274154" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000291962" "00290794" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291963" "00290795" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305508" "00304379" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000311081" "00309933" "1" "02015" "00006" "2006-10-22 22:42:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311083" "00309935" "1" "02015" "00006" "2008-09-04 16:31:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311084" "00309936" "1" "02015" "00006" "2006-10-22 23:09:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311085" "00309937" "1" "02015" "00006" "2008-09-04 16:21:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311086" "00309938" "1" "02015" "00006" "2008-09-04 16:34:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311087" "00309939" "1" "02015" "00006" "2008-09-04 17:20:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311089" "00309941" "1" "02015" "00006" "2008-09-04 16:50:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311091" "00309943" "1" "02015" "00006" "2008-09-04 16:54:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311092" "00309944" "1" "02015" "00006" "2008-09-04 16:57:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311093" "00309945" "1" "02015" "00006" "2008-09-04 17:00:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311094" "00309946" "1" "02015" "00006" "2008-09-04 17:03:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311095" "00309947" "1" "02015" "00006" "2008-09-04 17:08:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311096" "00309948" "1" "02015" "00006" "2008-09-04 17:14:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000428264" "00426944" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000275309" "PEX5" "0000311081" "PEX5" "0000311083" "PEX5" "0000311084" "PEX5" "0000311085" "PEX5" "0000311086" "PEX5" "0000311087" "PEX5" "0000311089" "PEX5" "0000311091" "PEX5" "0000311092" "PEX5" "0000311093" "PEX5" "0000311094" "PEX5" "0000311095" "PEX5" "0000311096" "PEX5" "0000428264" "MYO7A" ## 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 = 71 "{{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}}" "0000254299" "0" "30" "12" "7343153" "7343153" "subst" "0" "01943" "PEX5_000033" "g.7343153A>G" "" "" "" "PEX5(NM_001131023.1):c.180A>G (p.A60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7190557A>G" "" "likely benign" "" "0000296912" "0" "50" "12" "7361644" "7361644" "subst" "2.03046E-5" "02325" "PEX5_000036" "g.7361644C>T" "" "" "" "PEX5(NM_000319.4):c.1414C>T (p.(Arg472Trp)), PEX5(NM_001131025.2):c.1438C>T (p.R480W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7209048C>T" "" "VUS" "" "0000296913" "0" "30" "12" "7362285" "7362285" "subst" "6.11726E-5" "02325" "PEX5_000037" "g.7362285T>C" "" "" "" "PEX5(NM_001131025.2):c.1567T>C (p.L523=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7209689T>C" "" "likely benign" "" "0000305492" "0" "10" "12" "7343197" "7343241" "del" "0" "01943" "PEX5_000032" "g.7343197_7343241del" "" "" "" "PEX5(NM_000319.4):c.136_147+33del (p.?), PEX5(NM_001131023.1):c.148_192del (p.V50_A64del), PEX5(NM_001131025.2):c.136_147+33del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7190601_7190645del" "" "benign" "" "0000305493" "0" "30" "12" "7362425" "7362425" "subst" "0.000150268" "01943" "PEX5_000038" "g.7362425C>T" "" "" "" "PEX5(NM_001131025.1):c.1707C>T (p.L569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7209829C>T" "" "likely benign" "" "0000322660" "0" "50" "12" "7343088" "7343088" "subst" "0" "01804" "PEX5_000014" "g.7343088C>G" "" "" "" "PEX5(NM_000319.4):c.115C>G (p.(Pro39Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7190492C>G" "" "VUS" "" "0000322661" "0" "30" "12" "7343197" "7343241" "del" "0" "01804" "PEX5_000032" "g.7343197_7343241del" "" "" "" "PEX5(NM_000319.4):c.136_147+33del (p.?), PEX5(NM_001131023.1):c.148_192del (p.V50_A64del), PEX5(NM_001131025.2):c.136_147+33del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7190601_7190645del" "" "likely benign" "" "0000322664" "0" "30" "12" "7354399" "7354399" "subst" "0.00214435" "01804" "PEX5_000035" "g.7354399G>C" "" "" "" "PEX5(NM_000319.4):c.604G>C (p.(Val202Leu)), PEX5(NM_001131025.2):c.604G>C (p.V202L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7201803G>C" "" "likely benign" "" "0000322665" "0" "50" "12" "7362622" "7362622" "subst" "0" "01804" "PEX5_000039" "g.7362622G>A" "" "" "" "PEX5(NM_000319.4):c.1699G>A (p.(Ala567Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7210026G>A" "" "VUS" "" "0000322666" "0" "50" "12" "7362839" "7362839" "subst" "0.00143917" "01804" "PEX5_000040" "g.7362839G>C" "" "" "" "PEX5(NM_000319.4):c.*20G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7210243G>C" "" "VUS" "" "0000351357" "0" "10" "12" "7343197" "7343241" "del" "0" "02327" "PEX5_000032" "g.7343197_7343241del" "" "" "" "PEX5(NM_000319.4):c.136_147+33del (p.?), PEX5(NM_001131023.1):c.148_192del (p.V50_A64del), PEX5(NM_001131025.2):c.136_147+33del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7190601_7190645del" "" "benign" "" "0000351358" "0" "10" "12" "7343153" "7343153" "subst" "0" "02327" "PEX5_000033" "g.7343153A>G" "" "" "" "PEX5(NM_001131023.1):c.180A>G (p.A60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7190557A>G" "" "benign" "" "0000549131" "0" "90" "12" "7343876" "7343876" "subst" "0" "01943" "PEX5_000042" "g.7343876C>T" "" "" "" "PEX5(NM_001131025.1):c.238C>T (p.Q80*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7191280C>T" "" "pathogenic" "" "0000549134" "0" "50" "12" "7361266" "7361266" "subst" "0" "01804" "PEX5_000045" "g.7361266G>A" "" "" "" "PEX5(NM_000319.4):c.1370+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7208670G>A" "" "VUS" "" "0000549135" "0" "90" "12" "7361270" "7361270" "subst" "0" "02329" "PEX5_000046" "g.7361270G>A" "" "" "" "PEX5(NM_001131025.2):c.1394+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7208674G>A" "" "pathogenic" "" "0000549136" "0" "30" "12" "7361645" "7361645" "subst" "0.000190858" "01804" "PEX5_000047" "g.7361645G>A" "" "" "" "PEX5(NM_000319.4):c.1415G>A (p.(Arg472Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7209049G>A" "" "likely benign" "" "0000549138" "0" "50" "12" "7362628" "7362628" "subst" "0" "01943" "PEX5_000049" "g.7362628G>T" "" "" "" "PEX5(NM_001131025.1):c.1729G>T (p.E577*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7210032G>T" "" "VUS" "" "0000549139" "0" "50" "12" "7362713" "7362713" "subst" "0.000560729" "02325" "PEX5_000020" "g.7362713G>A" "" "" "" "PEX5(NM_001131025.2):c.1814G>A (p.S605N), PEX5(NM_001351132.2):c.1814G>A (p.(Ser605Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7210117G>A" "" "VUS" "" "0000614378" "0" "70" "12" "7354903" "7354903" "subst" "1.21837E-5" "01943" "PEX5_000022" "g.7354903C>T" "" "" "" "PEX5(NM_001131025.1):c.709C>T (p.R237*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7202307C>T" "" "likely pathogenic" "" "0000614379" "0" "50" "12" "7362721" "7362721" "subst" "2.43768E-5" "01804" "PEX5_000024" "g.7362721C>T" "" "" "" "PEX5(NM_000319.4):c.1798C>T (p.(Arg600Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7210125C>T" "" "VUS" "" "0000622971" "0" "50" "12" "7343091" "7343091" "subst" "0" "02325" "PEX5_000021" "g.7343091T>G" "" "" "" "PEX5(NM_001131025.2):c.118T>G (p.W40G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7190495T>G" "" "VUS" "" "0000622972" "0" "30" "12" "7355204" "7355204" "subst" "0.000381714" "02325" "PEX5_000023" "g.7355204G>A" "" "" "" "PEX5(NM_001131025.2):c.754-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7202608G>A" "" "likely benign" "" "0000629273" "21" "90" "12" "7362387" "7362387" "subst" "8.1217E-6" "00006" "PEX5_000025" "g.7362387C>T" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "NM_001131025.1:c.1669C>T" "low genotype/phenotype correlation" "Germline" "" "" "0" "" "" "g.7209791C>T" "" "pathogenic (recessive)" "" "0000629339" "11" "90" "12" "7362698" "7362698" "subst" "4.06326E-6" "00006" "PEX5_000026" "g.7362698C>T" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "NM_001131025.1:c.1799C>T" "" "Germline" "" "" "0" "" "" "g.7210102C>T" "" "pathogenic (recessive)" "" "0000648651" "1" "50" "12" "7351610" "7351610" "subst" "9.34198E-5" "03575" "PEX5_000027" "g.7351610C>G" "13/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs200720523}" "Germline" "" "rs200720523" "0" "" "" "g.7199014C>G" "" "VUS" "" "0000648652" "1" "10" "12" "7361287" "7361287" "subst" "0.0211876" "03575" "PEX5_000028" "g.7361287G>A" "147/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "147 heterozygous; {DB:CLININrs73051959}" "Germline" "" "rs73051959" "0" "" "" "g.7208691G>A" "" "benign" "" "0000669196" "3" "10" "12" "7361287" "7361287" "subst" "0.0211876" "03575" "PEX5_000028" "g.7361287G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs73051959}" "Germline" "" "rs73051959" "0" "" "" "g.7208691G>A" "" "benign" "" "0000679644" "0" "30" "12" "7361754" "7361754" "subst" "0.000251824" "01943" "PEX5_000029" "g.7361754C>T" "" "" "" "PEX5(NM_001131025.1):c.1548C>T (p.S516=), PEX5(NM_001351132.2):c.1548C>T (p.(Ser516=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679645" "0" "30" "12" "7362670" "7362670" "subst" "4.06369E-6" "01943" "PEX5_000030" "g.7362670G>A" "" "" "" "PEX5(NM_001131025.1):c.1771G>A (p.G591S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679646" "0" "30" "12" "7362773" "7362773" "subst" "2.43748E-5" "01804" "PEX5_000031" "g.7362773C>T" "" "" "" "PEX5(NM_000319.4):c.1850C>T (p.(Ala617Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000686369" "3" "90" "12" "7362296" "7362296" "subst" "0" "02015" "PEX5_000002" "g.7362296T>G" "" "{PMID:Dodt 1995:7719337}, {PMID:Shimozawa 1999:10462504}" "" "1467T>G (Asn489Lys)" "" "Germline" "" "rs61752138" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686371" "3" "90" "12" "7362296" "7362296" "subst" "0" "02015" "PEX5_000002" "g.7362296T>G" "" "{PMID:Ebberink 2008:18712838}" "" "1578T>G (N526K)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686372" "3" "90" "12" "7361150" "7361150" "subst" "1.62504E-5" "02015" "PEX5_000003" "g.7361150C>T" "" "{PMID:Dodt 1995:7719337}, {PMID:Shimozawa 1999:10462504}" "" "1168C>T (R390X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686373" "1" "90" "12" "7361115" "7361115" "subst" "4.06233E-6" "02015" "PEX5_000004" "g.7361115A>G" "" "{PMID:Ebberink 2008:18712838}" "" "[1244A>G]+[548-549dupATCG;604G>C] (N415S)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000686374" "3" "90" "12" "7362698" "7362698" "subst" "0" "02015" "PEX5_000005" "g.7362698C>G" "" "{PMID:Ebberink 2008:18712838}" "" "1799C>G (S600W)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686375" "3" "90" "12" "7362698" "7362698" "subst" "0" "02015" "PEX5_000005" "g.7362698C>G" "" "{PMID:Shimozawa 1999:10462504}" "" "1799C>G (S600W)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686377" "3" "90" "12" "7361270" "7361270" "subst" "0" "02015" "PEX5_000007" "g.7361270G>A" "" "{PMID:Ebberink 2008:18712838}" "" "1394+5G>A R394S r.395_465del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686379" "3" "90" "12" "7362387" "7362387" "subst" "8.1217E-6" "02015" "PEX5_000008" "g.7362387C>T" "" "{PMID:Ebberink 2008:18712838}" "" "1669C>T (R557W)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686380" "3" "90" "12" "7355280" "7355280" "subst" "4.06072E-6" "02015" "PEX5_000009" "g.7355280C>T" "" "{PMID:Ebberink 2008:18712838}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686381" "3" "90" "12" "7360378" "7360378" "subst" "0" "02015" "PEX5_000010" "g.7360378C>T" "" "{PMID:Ebberink 2008:18712838}" "" "1090C>T (Q364X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686382" "3" "90" "12" "7361129" "7361129" "subst" "8.12466E-6" "02015" "PEX5_000011" "g.7361129C>T" "" "{PMID:Ebberink 2008:18712838}" "" "1258C>T (R420X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686383" "1" "90" "12" "7351706" "7354292" "delins" "0" "02015" "PEX5_000012" "g.7351706_7354292delinsN[238]inv" "" "{PMID:Ebberink 2008:18712838}" "" "548_552-55delins238inv" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686384" "3" "90" "12" "7362277" "7362277" "subst" "0" "02015" "PEX5_000013" "g.7362277A>C" "" "{PMID:Ebberink 2008:18712838}" "" "1561-2A>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686389" "2" "90" "12" "7351703" "7351706" "dup" "0" "00006" "PEX5_000006" "g.7351703_7351706dup" "" "{PMID:Ebberink 2008:18712838}" "" "[1244A>G]+[548-549dupATCG;604G>C]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686390" "2" "50" "12" "7354399" "7354399" "subst" "0.00214435" "00006" "PEX5_000035" "g.7354399G>C" "" "{PMID:Ebberink 2008:18712838}" "" "[1244A>G]+[548-549dupATCG;604G>C]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000805940" "0" "30" "12" "7362365" "7362365" "subst" "2.43651E-5" "01943" "PEX5_000050" "g.7362365C>T" "" "" "" "PEX5(NM_001131025.1):c.1647C>T (p.L549=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853524" "0" "30" "12" "7342969" "7342969" "subst" "6.09558E-5" "01943" "PEX5_000051" "g.7342969T>C" "" "" "" "PEX5(NM_001300789.1):c.59T>C (p.V20A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890790" "0" "10" "12" "7343197" "7343241" "del" "0" "02326" "PEX5_000032" "g.7343197_7343241del" "" "" "" "PEX5(NM_000319.4):c.136_147+33del (p.?), PEX5(NM_001131023.1):c.148_192del (p.V50_A64del), PEX5(NM_001131025.2):c.136_147+33del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890791" "0" "50" "12" "7361644" "7361644" "subst" "2.03046E-5" "02327" "PEX5_000036" "g.7361644C>T" "" "" "" "PEX5(NM_000319.4):c.1414C>T (p.(Arg472Trp)), PEX5(NM_001131025.2):c.1438C>T (p.R480W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000905972" "0" "70" "12" "7343108" "7343153" "delins" "0" "00000" "PEX5_000052" "g.7343108_7343153delinsC" "" "{PMID:Zhu 2022:35456422}" "" "PEX5 c.135_147+33delinsC, p.?" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.7190512_7190557delinsC" "" "likely pathogenic" "ACMG" "0000950032" "0" "30" "12" "7355269" "7355269" "subst" "0.00732529" "01804" "PEX5_000053" "g.7355269T>C" "" "" "" "PEX5(NM_000319.4):c.815T>C (p.(Met272Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950033" "0" "50" "12" "7361644" "7361644" "subst" "2.03046E-5" "01804" "PEX5_000036" "g.7361644C>T" "" "" "" "PEX5(NM_000319.4):c.1414C>T (p.(Arg472Trp)), PEX5(NM_001131025.2):c.1438C>T (p.R480W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980461" "0" "30" "12" "7342879" "7342879" "subst" "0" "01804" "PEX5_000054" "g.7342879C>T" "" "" "" "PEX5(NM_001351128.2):c.-89-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980462" "0" "50" "12" "7351630" "7351630" "subst" "7.09072E-5" "01804" "PEX5_000055" "g.7351630C>T" "" "" "" "PEX5(NM_001351132.2):c.472C>T (p.(Arg158Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980463" "0" "70" "12" "7354939" "7354939" "subst" "4.06478E-6" "01804" "PEX5_000056" "g.7354939C>T" "" "" "" "PEX5(NM_001351132.2):c.745C>T (p.(Gln249Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000980464" "0" "50" "12" "7361151" "7361151" "subst" "2.03155E-5" "01804" "PEX5_000057" "g.7361151G>T" "" "" "" "PEX5(NM_001351132.2):c.1280G>T (p.(Arg427Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980465" "0" "50" "12" "7362769" "7362769" "subst" "2.03117E-5" "01804" "PEX5_000058" "g.7362769G>A" "" "" "" "PEX5(NM_001351132.2):c.1870G>A (p.(Asp624Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980466" "0" "50" "12" "7362799" "7362800" "del" "0" "01804" "PEX5_000059" "g.7362799_7362800del" "" "" "" "PEX5(NM_001351132.2):c.1900_1901del (p.(Met634Valfs*14))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015018" "0" "30" "12" "7354399" "7354399" "subst" "0.00214435" "02325" "PEX5_000035" "g.7354399G>C" "" "" "" "PEX5(NM_000319.4):c.604G>C (p.(Val202Leu)), PEX5(NM_001131025.2):c.604G>C (p.V202L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039458" "0" "50" "12" "7342812" "7342812" "subst" "0" "01804" "PEX5_000060" "g.7342812G>A" "" "" "" "PEX5(NM_001131025.2):c.-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039459" "0" "50" "12" "7361746" "7361746" "subst" "0" "01804" "PEX5_000061" "g.7361746G>A" "" "" "" "PEX5(NM_001351132.2):c.1540G>A (p.(Ala514Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039460" "0" "30" "12" "7361754" "7361754" "subst" "0.000251824" "01804" "PEX5_000029" "g.7361754C>T" "" "" "" "PEX5(NM_001131025.1):c.1548C>T (p.S516=), PEX5(NM_001351132.2):c.1548C>T (p.(Ser516=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039461" "0" "50" "12" "7362442" "7362442" "subst" "0" "01804" "PEX5_000062" "g.7362442A>C" "" "" "" "PEX5(NM_001351132.2):c.1718+6A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039462" "0" "50" "12" "7362713" "7362713" "subst" "0.000560729" "01804" "PEX5_000020" "g.7362713G>A" "" "" "" "PEX5(NM_001131025.2):c.1814G>A (p.S605N), PEX5(NM_001351132.2):c.1814G>A (p.(Ser605Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039463" "0" "50" "12" "7362722" "7362722" "subst" "6.09419E-5" "01804" "PEX5_000063" "g.7362722G>A" "" "" "" "PEX5(NM_001351132.2):c.1823G>A (p.(Arg608His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054233" "0" "50" "12" "7344254" "7344254" "subst" "2.43635E-5" "01804" "PEX5_000064" "g.7344254A>G" "" "" "" "PEX5(NM_001351132.2):c.406A>G (p.(Asn136Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054234" "0" "50" "12" "7351705" "7351705" "subst" "2.31501E-5" "01804" "PEX5_000065" "g.7351705C>T" "" "" "" "PEX5(NM_001351132.2):c.547C>T (p.(Arg183Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054235" "0" "50" "12" "7361241" "7361241" "subst" "2.85838E-5" "01804" "PEX5_000066" "g.7361241G>A" "" "" "" "PEX5(NM_001351132.2):c.1370G>A (p.(Arg457His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054236" "0" "50" "12" "7361728" "7361728" "del" "0" "01804" "PEX5_000067" "g.7361728del" "" "" "" "PEX5(NM_001351132.2):c.1522del (p.(Val508Trpfs*21))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065685" "0" "50" "12" "7343124" "7343124" "del" "1.07996E-5" "01804" "PEX5_000068" "g.7343124del" "" "" "" "PEX5(NM_001131023.2):c.151del (p.(Ser51Valfs*21))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065686" "0" "50" "12" "7343126" "7343169" "del" "1.07951E-5" "01804" "PEX5_000069" "g.7343126_7343169del" "" "" "" "PEX5(NM_001131023.2):c.153_192+4del" "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 PEX5 ## Count = 71 "{{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}}" "0000254299" "00015985" "30" "147" "33" "147" "33" "c.147+33A>G" "r.(=)" "p.(=)" "" "0000296912" "00015985" "50" "1414" "0" "1414" "0" "c.1414C>T" "r.(?)" "p.(Arg472Trp)" "" "0000296913" "00015985" "30" "1543" "0" "1543" "0" "c.1543T>C" "r.(?)" "p.(Leu515=)" "" "0000305492" "00015985" "10" "147" "77" "147" "121" "c.147+77_147+121del" "r.(=)" "p.(=)" "" "0000305493" "00015985" "30" "1683" "0" "1683" "0" "c.1683C>T" "r.(?)" "p.(Leu561=)" "" "0000322660" "00015985" "50" "115" "0" "115" "0" "c.115C>G" "r.(?)" "p.(Pro39Ala)" "" "0000322661" "00015985" "30" "147" "77" "147" "121" "c.147+77_147+121del" "r.(=)" "p.(=)" "" "0000322664" "00015985" "30" "604" "0" "604" "0" "c.604G>C" "r.(?)" "p.(Val202Leu)" "" "0000322665" "00015985" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Ala567Thr)" "" "0000322666" "00015985" "50" "1916" "0" "1916" "0" "c.*20G>C" "r.(=)" "p.(=)" "" "0000351357" "00015985" "10" "147" "77" "147" "121" "c.147+77_147+121del" "r.(=)" "p.(=)" "" "0000351358" "00015985" "10" "147" "33" "147" "33" "c.147+33A>G" "r.(=)" "p.(=)" "" "0000549131" "00015985" "90" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Gln80Ter)" "" "0000549134" "00015985" "50" "1370" "1" "1370" "1" "c.1370+1G>A" "r.spl?" "p.?" "" "0000549135" "00015985" "90" "1370" "5" "1370" "5" "c.1370+5G>A" "r.spl?" "p.?" "" "0000549136" "00015985" "30" "1415" "0" "1415" "0" "c.1415G>A" "r.(?)" "p.(Arg472Gln)" "" "0000549138" "00015985" "50" "1705" "0" "1705" "0" "c.1705G>T" "r.(?)" "p.(Glu569Ter)" "" "0000549139" "00015985" "50" "1790" "0" "1790" "0" "c.1790G>A" "r.(?)" "p.(Ser597Asn)" "" "0000614378" "00015985" "70" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Arg237Ter)" "" "0000614379" "00015985" "50" "1798" "0" "1798" "0" "c.1798C>T" "r.(?)" "p.(Arg600Cys)" "" "0000622971" "00015985" "50" "118" "0" "118" "0" "c.118T>G" "r.(?)" "p.(Trp40Gly)" "" "0000622972" "00015985" "30" "754" "-4" "754" "-4" "c.754-4G>A" "r.spl?" "p.?" "" "0000629273" "00015985" "90" "1645" "0" "1645" "0" "c.1645C>T" "r.(?)" "p.(Arg549Trp)" "" "0000629339" "00015985" "90" "1775" "0" "1775" "0" "c.1775C>T" "r.(?)" "p.(Ser592Leu)" "" "0000648651" "00015985" "50" "452" "0" "452" "0" "c.452C>G" "r.(?)" "p.(Pro151Arg)" "" "0000648652" "00015985" "10" "1370" "22" "1370" "22" "c.1370+22G>A" "r.(=)" "p.(=)" "" "0000669196" "00015985" "10" "1370" "22" "1370" "22" "c.1370+22G>A" "r.(=)" "p.(=)" "" "0000679644" "00015985" "30" "1524" "0" "1524" "0" "c.1524C>T" "r.(?)" "p.(Ser508=)" "" "0000679645" "00015985" "30" "1747" "0" "1747" "0" "c.1747G>A" "r.(?)" "p.(Gly583Ser)" "" "0000679646" "00015985" "30" "1850" "0" "1850" "0" "c.1850C>T" "r.(?)" "p.(Ala617Val)" "" "0000686369" "00015985" "90" "1554" "0" "1554" "0" "c.1554T>G" "r.1554u>g" "p.Asn518Lys" "14" "0000686371" "00015985" "90" "1554" "0" "1554" "0" "c.1554T>G" "r.(?)" "p.(Asn518Lys)" "14" "0000686372" "00015985" "90" "1255" "0" "1255" "0" "c.1255C>T" "r.1255c>u" "p.Arg419*" "12" "0000686373" "00015985" "90" "1220" "0" "1220" "0" "c.1220A>G" "r.(?)" "p.(Asn407Ser)" "11" "0000686374" "00015985" "90" "1775" "0" "1775" "0" "c.1775C>G" "r.(?)" "p.(Ser592Trp)" "15" "0000686375" "00015985" "90" "1775" "0" "1775" "0" "c.1775C>G" "r.(?)" "p.(Ser592Trp)" "15" "0000686377" "00015985" "90" "1370" "5" "1370" "5" "c.1370+5G>A" "r.spl" "p.?" "12" "0000686379" "00015985" "90" "1645" "0" "1645" "0" "c.1645C>T" "r.(?)" "p.(Arg549Trp)" "14" "0000686380" "00015985" "90" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Arg276*)" "7" "0000686381" "00015985" "90" "1066" "0" "1066" "0" "c.1066C>T" "r.(?)" "p.(Gln356*)" "10" "0000686382" "00015985" "90" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412*)" "12" "0000686383" "00015985" "90" "548" "0" "552" "-55" "c.548_552-55delins(238)inv" "r.?" "p.?" "5" "0000686384" "00015985" "90" "1537" "-2" "1537" "-2" "c.1537-2A>C" "r.[1537_1694del,1537_1561del]" "p.?" "14" "0000686389" "00015985" "90" "545" "0" "548" "0" "c.545_548dup" "r.(?)" "p.(Trp184Serfs*4)" "" "0000686390" "00015985" "50" "604" "0" "604" "0" "c.604G>C" "r.(?)" "p.(Val202Leu)" "" "0000805940" "00015985" "30" "1623" "0" "1623" "0" "c.1623C>T" "r.(?)" "p.(Leu541=)" "" "0000853524" "00015985" "30" "-5" "0" "-5" "0" "c.-5T>C" "r.(?)" "p.(=)" "" "0000890790" "00015985" "10" "147" "77" "147" "121" "c.147+77_147+121del" "r.(=)" "p.(=)" "" "0000890791" "00015985" "50" "1414" "0" "1414" "0" "c.1414C>T" "r.(?)" "p.(Arg472Trp)" "" "0000905972" "00015985" "70" "135" "0" "147" "33" "c.135_147+33delinsC" "r.spl" "p.?" "" "0000950032" "00015985" "30" "815" "0" "815" "0" "c.815T>C" "r.(?)" "p.(Met272Thr)" "" "0000950033" "00015985" "50" "1414" "0" "1414" "0" "c.1414C>T" "r.(?)" "p.(Arg472Trp)" "" "0000980461" "00015985" "30" "-95" "0" "-95" "0" "c.-95C>T" "r.(?)" "p.(=)" "" "0000980462" "00015985" "50" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Cys)" "" "0000980463" "00015985" "70" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Gln249*)" "" "0000980464" "00015985" "50" "1256" "0" "1256" "0" "c.1256G>T" "r.(?)" "p.(Arg419Leu)" "" "0000980465" "00015985" "50" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Asp616Asn)" "" "0000980466" "00015985" "50" "1876" "0" "1877" "0" "c.1876_1877del" "r.(?)" "p.(Met626Valfs*14)" "" "0001015018" "00015985" "30" "604" "0" "604" "0" "c.604G>C" "r.(?)" "p.(Val202Leu)" "" "0001039458" "00015985" "50" "-162" "0" "-162" "0" "c.-162G>A" "r.(?)" "p.(=)" "" "0001039459" "00015985" "50" "1516" "0" "1516" "0" "c.1516G>A" "r.(?)" "p.(Ala506Thr)" "" "0001039460" "00015985" "30" "1524" "0" "1524" "0" "c.1524C>T" "r.(?)" "p.(Ser508=)" "" "0001039461" "00015985" "50" "1694" "6" "1694" "6" "c.1694+6A>C" "r.(=)" "p.(=)" "" "0001039462" "00015985" "50" "1790" "0" "1790" "0" "c.1790G>A" "r.(?)" "p.(Ser597Asn)" "" "0001039463" "00015985" "50" "1799" "0" "1799" "0" "c.1799G>A" "r.(?)" "p.(Arg600His)" "" "0001054233" "00015985" "50" "406" "0" "406" "0" "c.406A>G" "r.(?)" "p.(Asn136Asp)" "" "0001054234" "00015985" "50" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Arg183Cys)" "" "0001054235" "00015985" "50" "1346" "0" "1346" "0" "c.1346G>A" "r.(?)" "p.(Arg449His)" "" "0001054236" "00015985" "50" "1498" "0" "1498" "0" "c.1498del" "r.(?)" "p.(Val500Trpfs*21)" "" "0001065685" "00015985" "50" "147" "4" "147" "4" "c.147+4del" "r.spl?" "p.?" "" "0001065686" "00015985" "50" "147" "6" "147" "49" "c.147+6_147+49del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000275309" "0000629273" "0000275309" "0000629339" "0000291962" "0000648651" "0000291963" "0000648652" "0000305508" "0000669196" "0000311081" "0000686369" "0000311083" "0000686371" "0000311084" "0000686372" "0000311085" "0000686373" "0000311085" "0000686389" "0000311085" "0000686390" "0000311086" "0000686374" "0000311087" "0000686375" "0000311089" "0000686377" "0000311091" "0000686379" "0000311092" "0000686380" "0000311093" "0000686381" "0000311094" "0000686382" "0000311095" "0000686383" "0000311096" "0000686384" "0000428264" "0000905972"