### LOVD-version 3000-280 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PEX19) # 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}}" "PEX19" "peroxisomal biogenesis factor 19" "1" "q22" "unknown" "NG_008637.1" "UD_132118545654" "" "https://www.LOVD.nl/PEX19" "" "1" "9713" "5824" "600279" "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/PEX19_codingDNA.html" "1" "" " This database is one of the dbPEX gene variant databases.\r\n
\r\n
" "-1" "" "-1" "00001" "2006-05-05 00:00:00" "00006" "2020-09-10 16:14:42" "00000" "2022-11-01 13:01:21" ## 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}}" "00015997" "PEX19" "transcript variant 1" "004" "NM_002857.3" "" "NP_002848.1" "" "" "" "-27" "3642" "900" "160254941" "160246599" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "03777" "PBD12A" "peroxisome biogenesis disorder, type 12A (PBD12A)" "AR" "614886" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-09 15:54:55" "05079" "PBD" "peroxisome biogenesis disorder (Zellweger syndrome)" "PG" "" "" "" "" "00006" "2015-09-25 13:40:55" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PEX19" "03777" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00309875" "" "" "" "1" "" "02015" "{PMID:Mohamed 2010:20683989}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "patient" "00309876" "" "" "" "1" "" "03774" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "patient" "00309877" "" "" "" "1" "" "02015" "{PMID:Matsuzono 1999:10051604}" "" "" "" "Japan" "" "0" "" "" "" "PBDJ-01" "00309879" "" "" "" "1" "" "00006" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "patient" "00334927" "" "" "" "2" "" "03286" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "family, 2 affected (2M)" "M" "yes" "Malta" "" "0" "" "" "" "PME21" "00334928" "" "" "00334927" "1" "" "03286" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "relative of PME21" "M" "yes" "Malta" "" "0" "" "" "" "PME22" "00334930" "" "" "" "1" "" "03286" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "F" "no" "Malta" "" "0" "" "" "" "PME60" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00309875" "05079" "00309876" "05079" "00309877" "05079" "00309879" "05079" "00334927" "03777" "00334928" "03777" "00334930" "03777" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03777, 05079 ## Count = 7 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000235194" "05079" "00309875" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "PBD12A" "peroxisome biogenesis disorder" "0000235195" "05079" "00309876" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "PBD12A" "Zellweger syndrome" "0000235196" "05079" "00309879" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "PBD12A" "Zellweger syndrome" "0000235197" "05079" "00309877" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "PBD12A" "Zellweger syndrome" "0000257416" "03777" "00334927" "00006" "Familial, autosomal recessive" "" "Sibling pair, both with a history of developmental delay presenting at 7 and 8 years of age with progressive ataxia, occasional myoclonus and TCS and dementia. Associated with limb spasticity." "" "" "" "" "" "" "" "" "progressive myoclonus epilepsy , dementia" "0000257417" "03777" "00334928" "00006" "Familial, autosomal recessive" "" "see sib" "" "" "" "" "" "" "" "" "progressive myoclonus epilepsy , dementia" "0000257424" "03777" "00334930" "00006" "Familial, autosomal recessive" "" "Onset age 8 ataxia, then TCS from age 12, on a background of normal developmental history prior to onset. Progressive severe ataxia. Hypertonia noted. Death age 35. (Affected brother not recruited)" "" "" "" "" "" "" "" "" "progressive myoclonus epilepsy , dementia" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000311020" "00309875" "1" "02015" "02015" "2010-08-16 11:39:00" "02015" "2010-08-17 11:43:14" "SEQ" "DNA" "" "" "0000311021" "00309876" "1" "03774" "02015" "2012-05-07 13:11:02" "" "" "SEQ" "DNA" "" "" "0000311022" "00309877" "1" "02015" "02015" "2006-05-05 10:23:00" "02015" "2007-10-15 19:26:00" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311023" "00309879" "1" "00006" "00006" "2020-09-04 16:56:42" "" "" "SEQ" "DNA" "" "" "0000336157" "00334927" "1" "03286" "03286" "2021-03-02 13:36:50" "00006" "2021-04-14 09:22:08" "SEQ;SEQ-NG" "DNA" "WES sibling pair" "" "0000336158" "00334928" "1" "03286" "03286" "2021-03-02 13:38:35" "00006" "2021-04-14 09:22:08" "SEQ;SEQ-NG" "DNA" "WES sibling pair" "" "0000336160" "00334930" "1" "03286" "03286" "2021-03-02 13:40:02" "00006" "2021-04-14 09:22:08" "SEQ;SEQ-NG" "DNA" "WES" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000311020" "PEX19" "0000311021" "PEX19" "0000311022" "PEX19" "0000311023" "PEX19" ## 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 = 36 "{{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}}" "0000274324" "0" "50" "1" "160264338" "160264338" "subst" "0" "01943" "COPA_000002" "g.160264338C>A" "" "" "" "COPA(NM_001098398.2):c.2639G>T (p.G880V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160294548C>A" "" "VUS" "" "0000274326" "0" "50" "1" "160261984" "160261984" "subst" "0.00000407897" "01943" "COPA_000001" "g.160261984C>T" "" "" "" "COPA(NM_001098398.2):c.2992G>A (p.D998N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160292194C>T" "" "VUS" "" "0000305485" "0" "30" "1" "160252904" "160252904" "subst" "0.00102028" "01943" "PEX19_000004" "g.160252904G>A" "" "" "" "PEX19(NM_002857.3):c.181-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.160283114G>A" "" "likely benign" "" "0000503951" "0" "30" "1" "160260267" "160260267" "subst" "0.00000410149" "02326" "COPA_000011" "g.160260267G>T" "" "" "" "COPA(NM_001098398.2):c.3642+15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160290477G>T" "" "likely benign" "" "0000503952" "0" "30" "1" "160261786" "160261786" "subst" "0.0000731464" "02326" "COPA_000012" "g.160261786G>A" "" "" "" "COPA(NM_001098398.2):c.3174+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160291996G>A" "" "likely benign" "" "0000503953" "0" "30" "1" "160262330" "160262330" "subst" "0.00134892" "01943" "COPA_000013" "g.160262330T>G" "" "" "" "COPA(NM_001098398.2):c.2931A>C (p.T977=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160292540T>G" "" "likely benign" "" "0000503954" "0" "30" "1" "160264280" "160264280" "subst" "0" "01943" "COPA_000014" "g.160264280A>C" "" "" "" "COPA(NM_001098398.2):c.2697T>G (p.P899=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160294490A>C" "" "likely benign" "" "0000503955" "0" "50" "1" "160264593" "160264593" "subst" "0.000633569" "01943" "COPA_000015" "g.160264593C>T" "" "" "" "COPA(NM_001098398.2):c.2558G>A (p.G853D), COPA(NM_004371.4):c.2531G>A (p.G844D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160294803C>T" "" "VUS" "" "0000503956" "0" "30" "1" "160264615" "160264615" "subst" "0" "01943" "COPA_000016" "g.160264615T>A" "" "" "" "COPA(NM_001098398.2):c.2536A>T (p.I846F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160294825T>A" "" "likely benign" "" "0000604938" "0" "30" "1" "160265582" "160265582" "subst" "0.000508954" "01943" "COPA_000028" "g.160265582T>G" "" "" "" "COPA(NM_001098398.2):c.2447A>C (p.N816T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.160295792T>G" "" "likely benign" "" "0000686189" "3" "90" "1" "160252760" "160252760" "del" "0" "02015" "PEX19_000002" "g.160252760del" "" "{PMID:Mohamed 2010:20683989}" "" "320delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686190" "3" "90" "1" "160252760" "160252760" "del" "0" "03774" "PEX19_000003" "g.160252760del" "" "{PMID:Ebberink 2011:21031596}" "" "320delA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686191" "3" "90" "1" "160249868" "160249868" "dup" "0" "02015" "PEX19_000001" "g.160249868dup" "" "{PMID:Matsuzono 1999:10051604}" "" "764insA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686192" "3" "90" "1" "160249862" "160249862" "subst" "0" "00006" "PEX19_000005" "g.160249862G>A" "" "{PMID:Ebberink 2011:21031596}" "" "739C>T (Q257X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000687915" "0" "30" "1" "160260464" "160260464" "subst" "0.00000406164" "01943" "COPA_000043" "g.160260464G>A" "" "" "" "COPA(NM_001098398.2):c.3460C>T (p.L1154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716936" "0" "70" "1" "160249859" "160249859" "subst" "0" "01943" "COPA_000047" "g.160249859C>T" "" "" "" "PEX19(NM_002857.3):c.771+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000716937" "0" "90" "1" "160252205" "160252205" "subst" "0.0000162434" "02329" "COPA_000010" "g.160252205A>G" "" "" "" "PEX19(NM_002857.3):c.432+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000716938" "0" "30" "1" "160252819" "160252819" "subst" "0.00181517" "01943" "COPA_000048" "g.160252819G>A" "" "" "" "PEX19(NM_002857.3):c.261C>T (p.F87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000735262" "3" "50" "1" "160252826" "160252826" "subst" "0.000511671" "03286" "PEX19_000006" "g.160252826G>A" "" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "" "ACMG PM2, PP3, PP4, BP1; The sib-pair\'s electroclinical phenotype is different to the previously reported phenotype in a single case, with childhood onset, no dysmorphic features and a less rapidly progressive clinical course. However, the same predicted damaging missense variant is homozygous in four unrelated families (two reported here) with similar presentation from Malta; the same haplotype was confirmed supporting a founder effect. The variant was not present in the Maltese human genome project (n=400). It is therefore with high confidence we expand the PEX19 clinical spectrum to PME." "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000735265" "3" "50" "1" "160252826" "160252826" "subst" "0.000511671" "03286" "PEX19_000006" "g.160252826G>A" "" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "" "ACMG PM2, PP3, PP4, BP1; The sib-pair\'s electroclinical phenotype is different to the previously reported phenotype in a single case, with childhood onset, no dysmorphic features and a less rapidly progressive clinical course. However, the same predicted damaging missense variant is homozygous in four unrelated families (two reported here) with similar presentation from Malta; the same haplotype was confirmed supporting a founder effect. The variant was not present in the Maltese human genome project (n=400). It is therefore with high confidence we expand the PEX19 clinical spectrum to PME." "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000735266" "3" "50" "1" "160252826" "160252826" "subst" "0.000511671" "03286" "PEX19_000006" "g.160252826G>A" "" "{PMID:Courage 2021:33798445}, {DOI:Courage 2021:10.1016/j.ajhg.2021.03.013}" "" "" "ACMG PM2, PP3, PP4, BP1; The sib-pair\'s electroclinical phenotype is different to the previously reported phenotype in a single case, with childhood onset, no dysmorphic features and a less rapidly progressive clinical course. However, the same predicted damaging missense variant is homozygous in four unrelated families (two reported here) with similar presentation from Malta; the same haplotype was confirmed supporting a founder effect. The variant was not present in the Maltese human genome project (n=400). It is therefore with high confidence we expand the PEX19 clinical spectrum to PME." "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000798867" "0" "90" "1" "160249868" "160249868" "dup" "0" "01943" "PEX19_000001" "g.160249868dup" "" "" "" "PEX19(NM_002857.3):c.763dupA (p.M255Nfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000798868" "0" "30" "1" "160260414" "160260414" "subst" "0.000190863" "02326" "COPA_000052" "g.160260414G>A" "" "" "" "COPA(NM_004371.4):c.3483C>T (p.D1161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798869" "0" "30" "1" "160261618" "160261618" "subst" "0" "01943" "COPA_000053" "g.160261618G>A" "" "" "" "COPA(NM_001098398.2):c.3276C>T (p.R1092=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798870" "0" "50" "1" "160261619" "160261619" "subst" "0.00012595" "02325" "COPA_000054" "g.160261619C>A" "" "" "" "COPA(NM_004371.4):c.3248G>T (p.R1083L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798871" "0" "30" "1" "160261672" "160261672" "subst" "0.000024373" "01943" "COPA_000055" "g.160261672G>A" "" "" "" "COPA(NM_001098398.2):c.3222C>T (p.S1074=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798872" "0" "30" "1" "160263169" "160263169" "subst" "0.0000367767" "01943" "COPA_000056" "g.160263169C>T" "" "" "" "COPA(NM_001098398.2):c.2781+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857101" "0" "30" "1" "160254836" "160254837" "ins" "0" "01943" "COPA_000059" "g.160254836_160254837insAGCG" "" "" "" "PEX19(NM_002857.3):c.70+9_70+10insGCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857102" "0" "50" "1" "160261924" "160261924" "subst" "0.0000406138" "01943" "COPA_000060" "g.160261924G>A" "" "" "" "COPA(NM_001098398.2):c.3052C>T (p.R1018W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857103" "0" "30" "1" "160263172" "160263172" "subst" "0.00261725" "02326" "COPA_000061" "g.160263172T>C" "" "" "" "COPA(NM_004371.4):c.2754+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882867" "0" "50" "1" "160261924" "160261924" "subst" "0.0000406138" "02329" "COPA_000060" "g.160261924G>A" "" "" "" "COPA(NM_001098398.2):c.3052C>T (p.R1018W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882868" "0" "30" "1" "160264370" "160264370" "subst" "0.0000121846" "02326" "COPA_000067" "g.160264370C>T" "" "" "" "COPA(NM_004371.4):c.2580G>A (p.E860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882869" "0" "30" "1" "160264547" "160264547" "subst" "0.0000325227" "02326" "COPA_000068" "g.160264547A>G" "" "" "" "COPA(NM_004371.4):c.2566+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882870" "0" "30" "1" "160264593" "160264593" "subst" "0.000633569" "02325" "COPA_000015" "g.160264593C>T" "" "" "" "COPA(NM_001098398.2):c.2558G>A (p.G853D), COPA(NM_004371.4):c.2531G>A (p.G844D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882871" "0" "30" "1" "160265635" "160265635" "subst" "0.0000083129" "02326" "COPA_000069" "g.160265635G>T" "" "" "" "COPA(NM_004371.4):c.2367C>A (p.D789E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882872" "0" "30" "1" "160265884" "160265884" "subst" "0.00324675" "02326" "COPA_000070" "g.160265884G>A" "" "" "" "COPA(NM_004371.4):c.2319C>T (p.S773=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 PEX19 ## Count = 36 "{{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}}" "0000274324" "00015997" "50" "-9424" "0" "-9424" "0" "c.-9424G>T" "r.(?)" "p.(=)" "" "0000274326" "00015997" "50" "-7070" "0" "-7070" "0" "c.-7070G>A" "r.(?)" "p.(=)" "" "0000305485" "00015997" "30" "181" "-5" "181" "-5" "c.181-5C>T" "r.spl?" "p.?" "" "0000503951" "00015997" "30" "-5353" "0" "-5353" "0" "c.-5353C>A" "r.(?)" "p.(=)" "" "0000503952" "00015997" "30" "-6872" "0" "-6872" "0" "c.-6872C>T" "r.(?)" "p.(=)" "" "0000503953" "00015997" "30" "-7416" "0" "-7416" "0" "c.-7416A>C" "r.(?)" "p.(=)" "" "0000503954" "00015997" "30" "-9366" "0" "-9366" "0" "c.-9366T>G" "r.(?)" "p.(=)" "" "0000503955" "00015997" "50" "-9679" "0" "-9679" "0" "c.-9679G>A" "r.(?)" "p.(=)" "" "0000503956" "00015997" "30" "-9701" "0" "-9701" "0" "c.-9701A>T" "r.(?)" "p.(=)" "" "0000604938" "00015997" "30" "-10668" "0" "-10668" "0" "c.-10668A>C" "r.(?)" "p.(=)" "" "0000686189" "00015997" "90" "320" "0" "320" "0" "c.320del" "r.(?)" "p.(Lys107Serfs*13)" "3" "0000686190" "00015997" "90" "320" "0" "320" "0" "c.320del" "r.(?)" "p.(Lys107Serfs*13)" "3" "0000686191" "00015997" "90" "763" "0" "763" "0" "c.763dup" "r.(?)" "p.(Met255Asnfs*25)" "6" "0000686192" "00015997" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Gln257*)" "" "0000687915" "00015997" "30" "-5550" "0" "-5550" "0" "c.-5550C>T" "r.(?)" "p.(=)" "" "0000716936" "00015997" "70" "771" "1" "771" "1" "c.771+1G>A" "r.spl?" "p.?" "" "0000716937" "00015997" "90" "432" "2" "432" "2" "c.432+2T>C" "r.spl?" "p.?" "" "0000716938" "00015997" "30" "261" "0" "261" "0" "c.261C>T" "r.(?)" "p.(Phe87=)" "" "0000735262" "00015997" "50" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Ala85Val)" "" "0000735265" "00015997" "50" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Ala85Val)" "" "0000735266" "00015997" "50" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Ala85Val)" "" "0000798867" "00015997" "90" "763" "0" "763" "0" "c.763dup" "r.(?)" "p.(Met255Asnfs*25)" "" "0000798868" "00015997" "30" "-5500" "0" "-5500" "0" "c.-5500C>T" "r.(?)" "p.(=)" "" "0000798869" "00015997" "30" "-6704" "0" "-6704" "0" "c.-6704C>T" "r.(?)" "p.(=)" "" "0000798870" "00015997" "50" "-6705" "0" "-6705" "0" "c.-6705G>T" "r.(?)" "p.(=)" "" "0000798871" "00015997" "30" "-6758" "0" "-6758" "0" "c.-6758C>T" "r.(?)" "p.(=)" "" "0000798872" "00015997" "30" "-8255" "0" "-8255" "0" "c.-8255G>A" "r.(?)" "p.(=)" "" "0000857101" "00015997" "30" "70" "9" "70" "10" "c.70+9_70+10insGCTC" "r.(=)" "p.(=)" "" "0000857102" "00015997" "50" "-7010" "0" "-7010" "0" "c.-7010C>T" "r.(?)" "p.(=)" "" "0000857103" "00015997" "30" "-8258" "0" "-8258" "0" "c.-8258A>G" "r.(?)" "p.(=)" "" "0000882867" "00015997" "50" "-7010" "0" "-7010" "0" "c.-7010C>T" "r.(?)" "p.(=)" "" "0000882868" "00015997" "30" "-9456" "0" "-9456" "0" "c.-9456G>A" "r.(?)" "p.(=)" "" "0000882869" "00015997" "30" "-9633" "0" "-9633" "0" "c.-9633T>C" "r.(?)" "p.(=)" "" "0000882870" "00015997" "30" "-9679" "0" "-9679" "0" "c.-9679G>A" "r.(?)" "p.(=)" "" "0000882871" "00015997" "30" "-10721" "0" "-10721" "0" "c.-10721C>A" "r.(?)" "p.(=)" "" "0000882872" "00015997" "30" "-10970" "0" "-10970" "0" "c.-10970C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000311020" "0000686189" "0000311021" "0000686190" "0000311022" "0000686191" "0000311023" "0000686192" "0000336157" "0000735262" "0000336158" "0000735265" "0000336160" "0000735266"