### LOVD-version 3000-25c ### 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}}" "{{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}}" "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" "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" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304306" "" "" "" "2" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "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" "0.810816" "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" "0.999992" "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" "0.803195" "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" "0.000150758" "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" "0.000546747" "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" "0.000819044" "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" "0.00390797" "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" "0.000219784" "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" "0.00273417" "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" "0.000910192" "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" "0.810816" "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" "0.00000824749" "02327" "PEX16_000005" "g.45935427C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45913876C>T" "" "VUS" "" "0000543950" "0" "30" "11" "45935689" "45935689" "subst" "0.0193796" "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" "0.803195" "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" "0.999992" "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" "0.0230232" "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" "0.00684865" "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" "0.00580115" "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" "0.00000406154" "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" "0.0230232" "03575" "PEX16_000008" "g.45937306C>T" "118/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "118 heterozygous; {DB:CLININrs11553094}" "Germline" "" "rs11553094" "0" "" "" "g.45915755C>T" "" "benign" "" "0000656793" "0" "30" "11" "45931646" "45931646" "subst" "0.000819044" "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" "0.0230232" "03575" "PEX16_000008" "g.45937306C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs11553094}" "Germline" "" "rs11553094" "0" "" "" "g.45915755C>T" "" "benign" "" "0000679189" "0" "30" "11" "45932480" "45932480" "subst" "0.0000162599" "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" "0.00000406154" "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" "0.0000040626" "02015" "PEX16_000002" "g.45932447A>G" "" "{PMID:Shimozawa 2002:11890679}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686224" "3" "90" "11" "45932447" "45932447" "subst" "0.0000040626" "02015" "PEX16_000002" "g.45932447A>G" "" "{PMID:Shimozawa 2002:11890679}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686225" "3" "90" "11" "45932447" "45932447" "subst" "0.0000040626" "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" "0.0000163333" "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"