### LOVD-version 3000-250 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PEX16) # 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}}" "{{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}}" "PEX16" "peroxisomal biogenesis factor 16" "11" "p" "unknown" "NG_008460.1" "UD_132118871428" "" "https://www.LOVD.nl/PEX16" "" "1" "8857" "9409" "603360" "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/PEX16_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 16:29:23" "00000" "2020-09-15 15:50:26" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00015996" "PEX16" "transcript variant 2" "001" "NM_057174.2" "" "NP_476515.1" "" "" "" "-312" "1461" "1041" "45939674" "45931220" "" "0000-00-00 00:00:00" "" "" "00025547" "PEX16" "transcript variant 1" "002" "NM_004813.2" "" "NP_004804.1" "" "" "" "-312" "1596" "1011" "45939674" "45931220" "00006" "2020-09-06 14:24:17" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "03768" "PBD-8A" "peroxisome biogenesis disorder, type 8A (PBD-8A)" "" "614876" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:59:30" "03769" "PBD-8B" "peroxisome biogenesis disorder, type 8B (PBD-8B)" "" "614877" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:59:30" "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)" "" "" "" "" "" "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 = 2 "{{geneid}}" "{{diseaseid}}" "PEX16" "03768" "PEX16" "03769" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00290398" "" "" "" "118" "03575" "Faruq 2020, submitted" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304306" "" "" "" "2" "03575" "Faruq 2020, subitted" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309901" "" "" "" "1" "02015" "{PMID:Honsho 1998:9837814}, {PMID:South 1999:9922452}" "" "" "" "Japan" "" "0" "" "" "" "PBDD-01" "00309902" "" "" "" "1" "02015" "{PMID:Shimozawa 2002:11890679}" "" "" "" "" "" "0" "" "" "" "GM06231/D-01" "00309903" "" "" "" "1" "02015" "{PMID:Shimozawa 2002:11890679}" "" "" "" "" "" "0" "" "" "" "D-02" "00309904" "" "" "" "1" "00006" "{PMID:Shimozawa 2002:11890679}" "" "" "" "" "" "0" "" "" "" "D-03" "00309905" "" "" "" "1" "02015" "{PMID:Shaheen 2010:20681997}" "family, 1 affected, 4 deceased siblings had similar phenotype" "M" "" "Saudi Arabia" "00y08m" "0" "" "" "" "Pat07" "00309906" "" "" "" "1" "02015" "{PMID:Ebberink 2010:20647552}" "" "F" "yes" "India" "" "0" "" "" "" "Pat6" "00309907" "" "" "" "2" "00006" "{PMID:Ebberink 2010:20647552}" "2-generation family, 2 affected (F, M)" "F" "yes" "Turkey" "" "0" "" "" "" "Pat1" "00309908" "" "" "00309907" "1" "00006" "{PMID:Ebberink 2010:20647552}" "brother" "M" "yes" "Turkey" "" "0" "" "" "" "Pat2" "00309909" "" "" "" "1" "00006" "{PMID:Ebberink 2010:20647552}, {PMID:Pineda 1999:10573465}" "" "M" "" "Spain" "" "0" "" "" "" "Pat3/FJGG" "00309910" "" "" "" "1" "00006" "{PMID:Ebberink 2010:20647552}" "" "" "" "" "" "0" "" "" "" "Pat4" "00309911" "" "" "" "1" "00006" "{PMID:Ebberink 2010:20647552}" "" "F" "" "" "" "0" "" "" "" "Pat5" "00309912" "" "" "" "1" "00006" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00290398" "00198" "00304306" "00198" "00309901" "05079" "00309902" "05079" "00309903" "05079" "00309904" "05079" "00309905" "05079" "00309906" "05079" "00309907" "05079" "00309908" "05079" "00309909" "05079" "00309910" "04214" "00309911" "04214" "00309912" "05079" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03768, 03769, 04214, 05079 ## Count = 11 "{{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}}" "0000235218" "05079" "00309901" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235219" "05079" "00309902" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235220" "05079" "00309903" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235221" "05079" "00309905" "00006" "Familial, autosomal recessive" "" "born at term, low birth weight; 1d-tyypical Zellweger facies, talibes, hypotonia; liver enzymes slightly elevated; MRI brain prominent ventricles, wideningsulci and sylivian fissures, cerebellar vermis hypoplasia; died 8m" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235222" "05079" "00309906" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235223" "05079" "00309907" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235224" "05079" "00309908" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235225" "05079" "00309909" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235226" "05079" "00309910" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235227" "05079" "00309911" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235228" "05079" "00309912" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000291566" "00290398" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305435" "00304306" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000311047" "00309901" "1" "02015" "00006" "2006-10-22 21:39:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311048" "00309902" "1" "02015" "00006" "2006-10-22 21:39:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311049" "00309903" "1" "02015" "00006" "2006-10-22 21:39:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311050" "00309904" "1" "00006" "00006" "2020-09-06 10:30:40" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311051" "00309905" "1" "02015" "00006" "2010-08-16 15:08:43" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311052" "00309906" "1" "02015" "00006" "2012-05-07 13:09:03" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311053" "00309907" "1" "00006" "00006" "2020-09-06 14:04:51" "" "" "SEQ" "DNA" "" "" "0000311054" "00309908" "1" "00006" "00006" "2020-09-06 14:04:51" "" "" "SEQ" "DNA" "" "" "0000311055" "00309909" "1" "00006" "00006" "2020-09-06 14:04:51" "" "" "SEQ" "DNA" "" "" "0000311056" "00309910" "1" "00006" "00006" "2020-09-06 14:04:51" "" "" "SEQ" "DNA" "" "" "0000311057" "00309911" "1" "00006" "00006" "2020-09-06 14:04:51" "" "" "SEQ" "DNA" "" "" "0000311058" "00309912" "1" "00006" "00006" "2020-09-06 14:17:48" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000311047" "PEX16" "0000311048" "PEX16" "0000311049" "PEX16" "0000311050" "PEX16" "0000311051" "PEX16" "0000311052" "PEX16" "0000311053" "PEX16" "0000311054" "PEX16" "0000311055" "PEX16" "0000311056" "PEX16" "0000311057" "PEX16" "0000311058" "PEX16" ## 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 = 39 "{{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}}" "0000248642" "0" "10" "11" "45935384" "45935384" "subst" "0.811366" "02325" "PEX16_000012" "g.45935384A>G" "" "" "" "PEX16(NM_004813.3):c.873T>C (p.Y291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45913833A>G" "" "benign" "" "0000296906" "0" "10" "11" "45937267" "45937267" "subst" "0" "02325" "PEX16_000014" "g.45937267C>T" "" "" "" "PEX16(NM_004813.3):c.346G>A (p.V116I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45915716C>T" "" "benign" "" "0000296907" "0" "10" "11" "45936035" "45936035" "subst" "0.806598" "02325" "PEX16_000013" "g.45936035G>A" "" "" "" "PEX16(NM_004813.3):c.542-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45914484G>A" "" "benign" "" "0000296908" "0" "50" "11" "45935380" "45935380" "subst" "0" "02325" "PEX16_000015" "g.45935380G>A" "" "" "" "PEX16(NM_004813.3):c.877C>T (p.R293C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45913829G>A" "" "VUS" "" "0000543941" "0" "30" "11" "45931630" "45931630" "subst" "0.000461396" "02330" "C11orf94_000001" "g.45931630G>T" "" "" "" "PEX16(NM_004813.3):c.*175C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45910079G>T" "" "likely benign" "" "0000543942" "0" "30" "11" "45931646" "45931646" "subst" "0" "02330" "C11orf94_000002" "g.45931646G>A" "" "" "" "PEX16(NM_057174.2):c.1035C>T (p.H345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45910095G>A" "" "likely benign" "" "0000543943" "0" "10" "11" "45931647" "45931647" "subst" "0.0120732" "02330" "C11orf94_000003" "g.45931647T>G" "" "" "" "PEX16(NM_057174.2):c.1034A>C (p.H345P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45910096T>G" "" "benign" "" "0000543945" "0" "50" "11" "45931735" "45931735" "subst" "0" "01804" "C11orf94_000004" "g.45931735G>C" "" "" "" "PEX16(NM_004813.2):c.*70C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45910184G>C" "" "VUS" "" "0000543946" "0" "10" "11" "45931740" "45931740" "subst" "0.00745924" "02330" "C11orf94_000005" "g.45931740A>G" "" "" "" "PEX16(NM_004813.3):c.*65T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45910189A>G" "" "benign" "" "0000543947" "0" "10" "11" "45931800" "45931800" "subst" "0.00446017" "02330" "C11orf94_000006" "g.45931800G>T" "" "" "" "PEX16(NM_004813.3):c.*5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45910249G>T" "" "benign" "" "0000543948" "0" "10" "11" "45935384" "45935384" "subst" "0.811366" "02330" "PEX16_000012" "g.45935384A>G" "" "" "" "PEX16(NM_004813.3):c.873T>C (p.Y291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45913833A>G" "" "benign" "" "0000543949" "0" "50" "11" "45935427" "45935427" "subst" "0" "02327" "PEX16_000005" "g.45935427C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45913876C>T" "" "VUS" "" "0000543950" "0" "30" "11" "45935689" "45935689" "subst" "0.0187125" "02330" "PEX16_000006" "g.45935689C>G" "" "" "" "PEX16(NM_004813.3):c.760G>C (p.V254L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45914138C>G" "" "likely benign" "" "0000543952" "0" "10" "11" "45936035" "45936035" "subst" "0.806598" "02330" "PEX16_000013" "g.45936035G>A" "" "" "" "PEX16(NM_004813.3):c.542-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45914484G>A" "" "benign" "" "0000543953" "0" "30" "11" "45937248" "45937248" "dup" "0" "01804" "PEX16_000007" "g.45937248dup" "" "" "" "PEX16(NM_004813.2):c.359+7dupT (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45915697dup" "" "likely benign" "" "0000543954" "0" "10" "11" "45937267" "45937267" "subst" "0" "02330" "PEX16_000014" "g.45937267C>T" "" "" "" "PEX16(NM_004813.3):c.346G>A (p.V116I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45915716C>T" "" "benign" "" "0000543955" "0" "10" "11" "45937306" "45937306" "subst" "0.0197631" "02330" "PEX16_000008" "g.45937306C>T" "" "" "" "PEX16(NM_004813.3):c.307G>A (p.V103M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45915755C>T" "" "benign" "" "0000543956" "0" "30" "11" "45944554" "45944554" "subst" "0.00211685" "01804" "GYLTL1B_000010" "g.45944554C>G" "" "" "" "GYLTL1B(NM_152312.3):c.121C>G (p.(Arg41Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45923003C>G" "" "likely benign" "" "0000613340" "0" "50" "11" "45936150" "45936150" "subst" "0" "02329" "PEX16_000009" "g.45936150C>T" "" "" "" "PEX16(NM_004813.3):c.541+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45914599C>T" "" "VUS" "" "0000613341" "0" "10" "11" "45937310" "45937310" "subst" "0.0249154" "02330" "PEX16_000011" "g.45937310G>A" "" "" "" "PEX16(NM_004813.3):c.303C>T (p.A101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45915759G>A" "" "benign" "" "0000613342" "0" "50" "11" "45939320" "45939320" "subst" "0" "02330" "GYLTL1B_000024" "g.45939320C>T" "" "" "" "PEX16(NM_004813.3):c.43G>A (p.V15M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45917769C>T" "" "VUS" "" "0000622632" "0" "90" "11" "45936170" "45936170" "subst" "0" "02325" "PEX16_000010" "g.45936170G>A" "" "" "" "PEX16(NM_004813.3):c.526C>T (p.R176*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45914619G>A" "" "pathogenic" "" "0000648255" "1" "10" "11" "45937306" "45937306" "subst" "0.0197631" "03575" "PEX16_000008" "g.45937306C>T" "118/2795 individuals" "Faruq 2020, submtted" "" "" "118 heterozygous; {DB:CLININrs11553094}" "Germline" "" "rs11553094" "0" "" "" "g.45915755C>T" "" "benign" "" "0000656793" "0" "30" "11" "45931646" "45931646" "subst" "0" "01943" "C11orf94_000002" "g.45931646G>A" "" "" "" "PEX16(NM_057174.2):c.1035C>T (p.H345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45910095G>A" "" "likely benign" "" "0000669123" "3" "10" "11" "45937306" "45937306" "subst" "0.0197631" "03575" "PEX16_000008" "g.45937306C>T" "2/2795 individuals" "Faruq 2020, submtted" "" "" "2 homozygous; {DB:CLININrs11553094}" "Germline" "" "rs11553094" "0" "" "" "g.45915755C>T" "" "benign" "" "0000679189" "0" "30" "11" "45932480" "45932480" "subst" "0.0000768994" "01943" "C11orf94_000007" "g.45932480G>A" "" "" "" "PEX16(NM_057174.2):c.921C>T (p.A307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000686222" "3" "90" "11" "45936170" "45936170" "subst" "0" "02015" "PEX16_000001" "g.45936170G>A" "" "{PMID:Honsho 1998:9837814}, {PMID:South 1999:9922452}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686223" "3" "90" "11" "45932447" "45932447" "subst" "0" "02015" "PEX16_000002" "g.45932447A>G" "" "{PMID:Shimozawa 2002:11890679}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686224" "3" "90" "11" "45932447" "45932447" "subst" "0" "02015" "PEX16_000002" "g.45932447A>G" "" "{PMID:Shimozawa 2002:11890679}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686225" "3" "90" "11" "45932447" "45932447" "subst" "0" "00006" "PEX16_000002" "g.45932447A>G" "" "{PMID:Shimozawa 2002:11890679}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686226" "3" "90" "11" "45937014" "45937014" "subst" "0" "02015" "PEX16_000003" "g.45937014C>T" "" "{PMID:Shaheen 2010:20681997}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686227" "3" "90" "11" "45931725" "45932331" "del" "0" "02015" "PEX16_000016" "g.45931725_45932331del" "" "{PMID:Ebberink 2010:20647552}" "" "NM_004813.2:c.952+118_1011+80del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686228" "3" "90" "11" "45931832" "45931832" "del" "0" "00006" "PEX16_000017" "g.45931832del" "" "{PMID:Ebberink 2010:20647552}" "" "NM_0004813.2:c.984delG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686233" "3" "90" "11" "45937018" "45937018" "dup" "0" "00006" "PEX16_000021" "g.45937018dup" "" "{PMID:Ebberink 2011:21031596}" "" "460+2insG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686234" "3" "90" "11" "45931832" "45931832" "del" "0" "00006" "PEX16_000017" "g.45931832del" "" "{PMID:Ebberink 2010:20647552}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686235" "3" "90" "11" "45931824" "45931824" "subst" "0" "00006" "PEX16_000020" "g.45931824T>C" "" "{PMID:Ebberink 2010:20647552}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686236" "3" "90" "11" "45935392" "45935392" "subst" "0" "00006" "PEX16_000019" "g.45935392G>T" "" "{PMID:Ebberink 2010:20647552}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686237" "3" "90" "11" "45935694" "45935696" "del" "0" "00006" "PEX16_000018" "g.45935694_45935696del" "" "{PMID:Ebberink 2010:20647552}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000691067" "0" "50" "11" "45935445" "45935445" "subst" "0" "02325" "PEX16_000022" "g.45935445C>T" "" "" "" "PEX16(NM_004813.3):c.812G>A (p.R271Q)" "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 PEX16 ## 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}}" "0000248642" "00015996" "10" "873" "0" "873" "0" "c.873T>C" "r.(?)" "p.(Tyr291=)" "" "0000248642" "00025547" "10" "873" "0" "873" "0" "c.873T>C" "r.(?)" "p.(Tyr291=)" "" "0000296906" "00015996" "10" "346" "0" "346" "0" "c.346=" "r.(=)" "p.(Ile116=)" "" "0000296906" "00025547" "10" "346" "0" "346" "0" "c.346=" "r.(=)" "p.(Ile116=)" "" "0000296907" "00015996" "10" "542" "-16" "542" "-16" "c.542-16C>T" "r.(=)" "p.(=)" "" "0000296907" "00025547" "10" "542" "-16" "542" "-16" "c.542-16C>T" "r.(=)" "p.(=)" "" "0000296908" "00015996" "50" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293Cys)" "" "0000296908" "00025547" "50" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293Cys)" "" "0000543941" "00015996" "30" "1051" "0" "1051" "0" "c.*10C>A" "r.(=)" "p.(=)" "" "0000543941" "00025547" "30" "1186" "0" "1186" "0" "c.*175C>A" "r.(=)" "p.(=)" "" "0000543942" "00015996" "30" "1035" "0" "1035" "0" "c.1035C>T" "r.(?)" "p.(His345=)" "" "0000543942" "00025547" "30" "1170" "0" "1170" "0" "c.*159C>T" "r.(=)" "p.(=)" "" "0000543943" "00015996" "10" "1034" "0" "1034" "0" "c.1034A>C" "r.(?)" "p.(His345Pro)" "" "0000543943" "00025547" "10" "1169" "0" "1169" "0" "c.*158A>C" "r.(=)" "p.(=)" "" "0000543945" "00015996" "50" "953" "-7" "953" "-7" "c.953-7C>G" "r.(=)" "p.(=)" "" "0000543945" "00025547" "50" "1081" "0" "1081" "0" "c.*70C>G" "r.(=)" "p.(=)" "" "0000543946" "00015996" "10" "953" "-12" "953" "-12" "c.953-12T>C" "r.(=)" "p.(=)" "" "0000543946" "00025547" "10" "1076" "0" "1076" "0" "c.*65T>C" "r.(=)" "p.(=)" "" "0000543947" "00015996" "10" "953" "-72" "953" "-72" "c.953-72C>A" "r.(=)" "p.(=)" "" "0000543947" "00025547" "10" "1016" "0" "1016" "0" "c.*5C>A" "r.(=)" "p.(=)" "" "0000543948" "00015996" "10" "873" "0" "873" "0" "c.873T>C" "r.(?)" "p.(Tyr291=)" "" "0000543948" "00025547" "10" "873" "0" "873" "0" "c.873T>C" "r.(?)" "p.(Tyr291=)" "" "0000543949" "00015996" "50" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277Gln)" "" "0000543949" "00025547" "50" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.(Arg277Gln)" "" "0000543950" "00015996" "30" "760" "0" "760" "0" "c.760G>C" "r.(?)" "p.(Val254Leu)" "" "0000543950" "00025547" "30" "760" "0" "760" "0" "c.760G>C" "r.(?)" "p.(Val254Leu)" "" "0000543952" "00015996" "10" "542" "-16" "542" "-16" "c.542-16C>T" "r.(=)" "p.(=)" "" "0000543952" "00025547" "10" "542" "-16" "542" "-16" "c.542-16C>T" "r.(=)" "p.(=)" "" "0000543953" "00015996" "30" "359" "7" "359" "7" "c.359+7dup" "r.(=)" "p.(=)" "" "0000543953" "00025547" "30" "359" "7" "359" "7" "c.359+7dup" "r.(=)" "p.(=)" "" "0000543954" "00015996" "10" "346" "0" "346" "0" "c.346=" "r.(=)" "p.(Ile116=)" "" "0000543954" "00025547" "10" "346" "0" "346" "0" "c.346=" "r.(=)" "p.(Ile116=)" "" "0000543955" "00015996" "10" "307" "0" "307" "0" "c.307G>A" "r.(?)" "p.(Val103Met)" "" "0000543955" "00025547" "10" "307" "0" "307" "0" "c.307G>A" "r.(?)" "p.(Val103Met)" "" "0000543956" "00015996" "30" "-5192" "0" "-5192" "0" "c.-5192G>C" "r.(?)" "p.(=)" "" "0000543956" "00025547" "30" "-5192" "0" "-5192" "0" "c.-5192G>C" "r.(?)" "p.(=)" "" "0000613340" "00015996" "50" "541" "5" "541" "5" "c.541+5G>A" "r.spl?" "p.?" "" "0000613340" "00025547" "50" "541" "5" "541" "5" "c.541+5G>A" "r.spl?" "p.?" "" "0000613341" "00015996" "10" "303" "0" "303" "0" "c.303C>T" "r.(?)" "p.(Ala101=)" "" "0000613341" "00025547" "10" "303" "0" "303" "0" "c.303C>T" "r.(?)" "p.(Ala101=)" "" "0000613342" "00015996" "50" "43" "0" "43" "0" "c.43G>A" "r.(?)" "p.(Val15Met)" "" "0000613342" "00025547" "50" "43" "0" "43" "0" "c.43G>A" "r.(?)" "p.(Val15Met)" "" "0000622632" "00015996" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000622632" "00025547" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000648255" "00015996" "10" "307" "0" "307" "0" "c.307G>A" "r.(?)" "p.(Val103Met)" "" "0000648255" "00025547" "10" "307" "0" "307" "0" "c.307G>A" "r.(?)" "p.(Val103Met)" "" "0000656793" "00015996" "30" "1035" "0" "1035" "0" "c.1035C>T" "r.(?)" "p.(His345=)" "" "0000656793" "00025547" "30" "1170" "0" "1170" "0" "c.*159C>T" "r.(=)" "p.(=)" "" "0000669123" "00015996" "10" "307" "0" "307" "0" "c.307G>A" "r.(?)" "p.(Val103Met)" "" "0000669123" "00025547" "10" "307" "0" "307" "0" "c.307G>A" "r.(?)" "p.(Val103Met)" "" "0000679189" "00015996" "30" "921" "0" "921" "0" "c.921C>T" "r.(?)" "p.(Ala307=)" "" "0000679189" "00025547" "30" "921" "0" "921" "0" "c.921C>T" "r.(?)" "p.(Ala307=)" "" "0000686222" "00015996" "90" "526" "0" "526" "0" "c.526C>T" "r.526c>u" "p.Arg176*" "" "0000686223" "00015996" "90" "952" "2" "952" "2" "c.952+2T>C" "r.888_952del" "p.Glu296fs" "" "0000686224" "00015996" "90" "952" "2" "952" "2" "c.952+2T>C" "r.888_952del" "p.Glu296fs" "" "0000686225" "00015996" "90" "952" "2" "952" "2" "c.952+2T>C" "r.888_952del" "p.Glu296fs" "" "0000686226" "00015996" "90" "460" "5" "460" "5" "c.460+5G>A" "r.360_460del" "p.Ala121fs" "" "0000686227" "00015996" "90" "952" "118" "956" "0" "c.952+118_956del" "r.?" "p.?" "" "0000686228" "00015996" "90" "953" "-104" "953" "-104" "c.953-104del" "r.(?)" "p.(=)" "" "0000686228" "00025547" "90" "984" "0" "984" "0" "c.984del" "r.(?)" "p.(Ile330Serfs*27)" "" "0000686233" "00015996" "90" "460" "1" "460" "1" "c.460+1dup" "r.spl" "p.?" "" "0000686234" "00015996" "90" "953" "-104" "953" "-104" "c.953-104del" "r.(?)" "p.(=)" "" "0000686234" "00025547" "90" "984" "0" "984" "0" "c.984del" "r.(?)" "p.(Ile330Serfs*27)" "" "0000686235" "00015996" "90" "953" "-96" "953" "-96" "c.953-96A>G" "r.(?)" "p.(=)" "" "0000686235" "00025547" "90" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(Tyr331Cys)" "" "0000686236" "00015996" "90" "865" "0" "865" "0" "c.865C>A" "r.(?)" "p.(Pro289Thr)" "" "0000686236" "00025547" "90" "865" "0" "865" "0" "c.865C>A" "r.(?)" "p.(Pro289Thr)" "" "0000686237" "00015996" "90" "753" "0" "755" "0" "c.753_755del" "r.(?)" "p.(Val252del)" "" "0000686237" "00025547" "90" "753" "0" "755" "0" "c.753_755del" "r.(?)" "p.(Val252del)" "" "0000691067" "00015996" "50" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Arg271Gln)" "" "0000691067" "00025547" "50" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Arg271Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000291566" "0000648255" "0000305435" "0000669123" "0000311047" "0000686222" "0000311048" "0000686223" "0000311049" "0000686224" "0000311050" "0000686225" "0000311051" "0000686226" "0000311052" "0000686227" "0000311053" "0000686228" "0000311054" "0000686234" "0000311055" "0000686237" "0000311056" "0000686236" "0000311057" "0000686235" "0000311058" "0000686233"