### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EPG5) # 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}}" "EPG5" "ectopic P-granules autophagy protein 5 homolog (C. elegans)" "18" "q12.3" "unknown" "NC_000018.9" "UD_132378699430" "" "https://www.LOVD.nl/EPG5" "" "1" "29331" "57724" "615068" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-09-26 11:18:24" "00006" "2025-11-13 13:04:16" ## 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}}" "00007152" "EPG5" "ectopic P-granules autophagy protein 5 homolog (C. elegans)" "001" "NM_020964.2" "" "NP_066015.2" "" "" "" "-100" "12598" "7740" "43547305" "43427574" "" "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" "00854" "VICIS" "Vici syndrome (VICIS)" "AR" "242840" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "EPG5" "00139" "EPG5" "00854" ## Individuals ## Do not remove or alter this header ## ## Count = 37 "{{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}}" "00050659" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected and affected2nd degree relatives" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00080831" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00164724" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00291957" "" "" "" "243" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291958" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291960" "" "" "" "30" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304625" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304626" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309134" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309135" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00334302" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334311" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334316" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334321" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334352" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334368" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334373" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334406" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334479" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334481" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334483" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334526" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334542" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334544" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334842" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334847" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334869" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334871" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334879" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334926" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335037" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00433100" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "Chile" "" "0" "" "" "" "Pat76,1" "00443881" "" "" "" "1" "" "00006" "{PMID:Chatron 2020:32282878}" "3-generation family, 1 affected brother, unaffected heterozygous parents/relatives" "F" "yes" "Brazil" "" "0" "" "" "" "FamFPatIV1" "00466858" "" "" "" "2" "" "04901" "" "family, 2 affected (1M,1F)" "M" "yes" "Pakistan" "" "0" "" "" "South asian" "NDAR07-1" "00468863" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468864" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468865" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 37 "{{individualid}}" "{{diseaseid}}" "00050659" "00198" "00080831" "00854" "00164724" "00198" "00291957" "00198" "00291958" "00198" "00291960" "00198" "00304625" "00198" "00304626" "00198" "00309134" "04214" "00309135" "04214" "00334302" "05793" "00334311" "05793" "00334316" "05793" "00334321" "05793" "00334352" "05793" "00334368" "05793" "00334373" "05793" "00334406" "05793" "00334479" "05793" "00334481" "05793" "00334483" "05793" "00334526" "05793" "00334542" "05793" "00334544" "05793" "00334842" "05793" "00334847" "05793" "00334869" "05793" "00334871" "05793" "00334879" "05793" "00334926" "05793" "00335037" "05793" "00433100" "05292" "00443881" "06906" "00466858" "00854" "00468863" "00198" "00468864" "00198" "00468865" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00854, 04214, 05292, 05793, 06906 ## Count = 32 "{{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}}" "0000037271" "00198" "00050659" "00006" "Unknown" "" "feeding difficulties in infancy, seizures, poor head control, seizures, microcephaly, specific learning disability, congenital cataract, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000060400" "00854" "00080831" "01758" "Familial, autosomal recessive" "" "Vici syndrome (OMIM:242840)" "" "" "" "" "" "" "" "" "" "" "" "0000129763" "00198" "00164724" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Myopathy (HP:0003198)" "" "" "" "" "" "" "" "" "" "" "" "0000234454" "04214" "00309134" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa- syndromic" "" "0000234455" "04214" "00309135" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa- syndromic" "" "0000253112" "05793" "00334302" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253121" "05793" "00334311" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253126" "05793" "00334316" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253131" "05793" "00334321" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253147" "05793" "00334352" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253163" "05793" "00334368" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253167" "05793" "00334373" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253189" "05793" "00334406" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253192" "05793" "00334479" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253194" "05793" "00334481" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253196" "05793" "00334483" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253220" "05793" "00334526" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253232" "05793" "00334542" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253234" "05793" "00334544" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253239" "05793" "00334842" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253244" "05793" "00334847" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253264" "05793" "00334869" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253266" "05793" "00334871" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253270" "05793" "00334879" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253277" "05793" "00334926" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253319" "05793" "00335037" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000323626" "05292" "00433100" "00006" "Familial, autosomal recessive" "12y" "defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000333158" "06906" "00443881" "00006" "Familial, autosomal recessive" "6y11m" "see paper; ..., 7d-myoclonic seizure; tonic seizures, epileptic spasms, focal seizures; EEG at onset suppression-burst pattern; occasional seizure; dystonia and hyperkinetic movements; profound intellectual disability; no pes equinovarus; no omphalocele; no cleft palate; joint contractures; no dysmorphic facial features; MRI brain 4m-normal, 13m-mild cerebral atrophy, 6y-mild cerebral atrophy with ventricular dilation" "" "" "" "" "" "" "" "" "DEE89" "neonatal developmental and epileptic encephalopathy" "" "0000352222" "00854" "00466858" "04901" "Familial, autosomal recessive" "00y08m" "Hypotonia HP:0001252, Agenesis of corpus callosum HP:0001274, seizures HP:0001250, Global developmental delay HP:0001263" "00y03m" "01y06m" "" "" "" "" "" "" "VICIS (OMIM#242840)" "" "" "0000354016" "00198" "00468863" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000354017" "00198" "00468864" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000354018" "00198" "00468865" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 37 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050604" "00050659" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000080943" "00080831" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000165591" "00164724" "1" "01807" "01807" "2018-06-05 19:09:33" "" "" "SEQ" "DNA" "" "" "0000293125" "00291957" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293126" "00291958" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293128" "00291960" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305754" "00304625" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305755" "00304626" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000310279" "00309134" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310280" "00309135" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000335529" "00334302" "1" "04011" "04011" "2021-02-27 06:26:24" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335539" "00334311" "1" "04011" "04011" "2021-02-27 07:22:13" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335544" "00334316" "1" "04011" "04011" "2021-02-27 08:23:43" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335549" "00334321" "1" "04011" "04011" "2021-02-27 14:15:38" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335580" "00334352" "1" "04011" "04011" "2021-02-28 03:57:06" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335596" "00334368" "1" "04011" "04011" "2021-02-28 08:40:49" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335601" "00334373" "1" "04011" "04011" "2021-02-28 10:00:23" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335635" "00334406" "1" "04011" "04011" "2021-02-28 14:52:07" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335708" "00334479" "1" "04011" "04011" "2021-03-01 02:59:38" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335710" "00334481" "1" "04011" "04011" "2021-03-01 03:42:49" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335712" "00334483" "1" "04011" "04011" "2021-03-01 03:55:08" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335755" "00334526" "1" "04011" "04011" "2021-03-01 11:46:17" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335771" "00334542" "1" "04011" "04011" "2021-03-01 13:52:29" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335773" "00334544" "1" "04011" "04011" "2021-03-01 14:22:35" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336071" "00334842" "1" "04011" "04011" "2021-03-02 01:47:14" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336076" "00334847" "1" "04011" "04011" "2021-03-02 02:56:20" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336098" "00334869" "1" "04011" "04011" "2021-03-02 09:21:10" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336100" "00334871" "1" "04011" "04011" "2021-03-02 09:27:44" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336108" "00334879" "1" "04011" "04011" "2021-03-02 09:52:28" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336156" "00334926" "1" "04011" "04011" "2021-03-02 13:36:35" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336266" "00335037" "1" "04011" "04011" "2021-03-03 06:11:42" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000434531" "00433100" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000445378" "00443881" "1" "00006" "00006" "2023-12-05 10:17:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000468522" "00466858" "1" "04901" "04901" "2025-09-24 21:26:21" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "WES" "0000470531" "00468863" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470532" "00468864" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470533" "00468865" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000050604" "EPG5" "0000050604" "ORC1" "0000080943" "EPG5" "0000310279" "EPG5" "0000310280" "EPG5" ## 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 = 259 "{{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}}" "0000079584" "3" "90" "18" "43447589" "43447589" "subst" "8.12704E-6" "00006" "EPG5_000001" "g.43447589A>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.45867624A>G" "" "pathogenic" "" "0000130029" "3" "70" "18" "43534386" "43534386" "dup" "0" "01758" "EPG5_000002" "g.43534386dup" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.45954420dup" "" "likely pathogenic" "ACMG" "0000250717" "0" "10" "18" "43445747" "43445747" "del" "0" "02326" "EPG5_000006" "g.43445747del" "" "" "" "EPG5(NM_020964.2):c.6622-7del (p.(=)), EPG5(NM_020964.3):c.6622-6delT, EPG5(NM_020964.3):c.6622-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45865782del" "" "benign" "" "0000253069" "0" "10" "18" "43445747" "43445747" "del" "0" "01943" "EPG5_000006" "g.43445747del" "" "" "" "EPG5(NM_020964.2):c.6622-7del (p.(=)), EPG5(NM_020964.3):c.6622-6delT, EPG5(NM_020964.3):c.6622-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45865782del" "" "benign" "" "0000253620" "0" "10" "18" "43502494" "43502494" "subst" "0.000994956" "01943" "EPG5_000030" "g.43502494A>C" "" "" "" "EPG5(NM_020964.2):c.2911T>G (p.(Leu971Val)), EPG5(NM_020964.3):c.2911T>G (p.L971V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45922528A>C" "" "benign" "" "0000254318" "0" "30" "18" "43502441" "43502441" "subst" "0.000121838" "01943" "EPG5_000029" "g.43502441A>G" "" "" "" "EPG5(NM_020964.3):c.2964T>C (p.C988=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45922475A>G" "" "likely benign" "" "0000254430" "0" "30" "18" "43532607" "43532607" "subst" "0.000101712" "01943" "EPG5_000035" "g.43532607A>C" "" "" "" "EPG5(NM_020964.3):c.1011T>G (p.G337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45952641A>C" "" "likely benign" "" "0000255143" "0" "30" "18" "43514843" "43514843" "subst" "0.000113744" "01943" "EPG5_000033" "g.43514843A>G" "" "" "" "EPG5(NM_020964.3):c.2189T>C (p.V730A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45934877A>G" "" "likely benign" "" "0000256473" "0" "50" "18" "43495547" "43495547" "subst" "2.43706E-5" "01943" "EPG5_000027" "g.43495547A>G" "" "" "" "EPG5(NM_020964.3):c.3622T>C (p.S1208P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45915582A>G" "" "VUS" "" "0000267849" "0" "70" "18" "43458977" "43458977" "subst" "4.06316E-6" "02325" "EPG5_000015" "g.43458977C>T" "" "" "" "EPG5(NM_020964.3):c.5869+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45879012C>T" "" "likely pathogenic" "" "0000276186" "0" "10" "18" "43535264" "43535264" "subst" "0.00118708" "01943" "EPG5_000040" "g.43535264C>T" "" "" "" "EPG5(NM_020964.2):c.104G>A (p.(Ser35Asn)), EPG5(NM_020964.3):c.104G>A (p.S35N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45955298C>T" "" "benign" "" "0000276187" "0" "50" "18" "43514856" "43514856" "subst" "3.24968E-5" "01943" "EPG5_000034" "g.43514856G>A" "" "" "" "EPG5(NM_020964.3):c.2176C>T (p.L726F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45934890G>A" "" "VUS" "" "0000276188" "0" "10" "18" "43496063" "43496063" "subst" "0.00150693" "01943" "EPG5_000028" "g.43496063T>C" "" "" "" "EPG5(NM_020964.3):c.3493A>G (p.I1165V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45916098T>C" "" "benign" "" "0000276189" "0" "30" "18" "43490652" "43490652" "subst" "0.00436871" "01943" "EPG5_000025" "g.43490652T>G" "" "" "" "EPG5(NM_020964.2):c.4039A>C (p.(Asn1347His)), EPG5(NM_020964.3):c.4039A>C (p.N1347H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45910687T>G" "" "likely benign" "" "0000276190" "0" "30" "18" "43481105" "43481105" "subst" "0.000773616" "01943" "EPG5_000024" "g.43481105C>T" "" "" "" "EPG5(NM_020964.3):c.4502G>A (p.R1501Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45901140C>T" "" "likely benign" "" "0000276191" "0" "50" "18" "43467837" "43467837" "subst" "3.70361E-5" "01943" "EPG5_000023" "g.43467837G>A" "" "" "" "EPG5(NM_020964.3):c.4988C>T (p.P1663L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45887872G>A" "" "VUS" "" "0000276192" "0" "30" "18" "43464740" "43464740" "subst" "6.39776E-5" "01943" "EPG5_000022" "g.43464740C>T" "" "" "" "EPG5(NM_020964.3):c.5146G>A (p.V1716I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45884775C>T" "" "likely benign" "" "0000276193" "0" "30" "18" "43460124" "43460124" "subst" "0.00242191" "01943" "EPG5_000020" "g.43460124G>A" "" "" "" "EPG5(NM_020964.3):c.5583C>T (p.C1861=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45880159G>A" "" "likely benign" "" "0000276194" "0" "30" "18" "43460123" "43460123" "subst" "8.70705E-5" "01943" "EPG5_000018" "g.43460123C>A" "" "" "" "EPG5(NM_020964.3):c.5584G>T (p.A1862S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45880158C>A" "" "likely benign" "" "0000276195" "0" "30" "18" "43459122" "43459122" "subst" "0" "01943" "EPG5_000016" "g.43459122T>A" "" "" "" "EPG5(NM_020964.3):c.5725A>T (p.M1909L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45879157T>A" "" "likely benign" "" "0000276196" "0" "30" "18" "43450610" "43450610" "subst" "0.000174651" "01943" "EPG5_000013" "g.43450610G>A" "" "" "" "EPG5(NM_020964.3):c.6147C>T (p.Y2049=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45870645G>A" "" "likely benign" "" "0000276197" "0" "50" "18" "43450542" "43450542" "subst" "4.47748E-5" "01943" "EPG5_000012" "g.43450542G>C" "" "" "" "EPG5(NM_020964.3):c.6215C>G (p.A2072G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45870577G>C" "" "VUS" "" "0000276198" "0" "30" "18" "43447598" "43447598" "subst" "7.721E-5" "01943" "EPG5_000011" "g.43447598C>T" "" "" "" "EPG5(NM_020964.3):c.6341G>A (p.R2114H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45867633C>T" "" "likely benign" "" "0000276199" "0" "50" "18" "43447536" "43447536" "subst" "0.000228048" "01943" "EPG5_000010" "g.43447536C>T" "" "" "" "EPG5(NM_020964.3):c.6403G>A (p.D2135N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45867571C>T" "" "VUS" "" "0000276201" "0" "30" "18" "43534628" "43534628" "subst" "0.00652216" "01943" "EPG5_000038" "g.43534628G>A" "" "" "" "EPG5(NM_020964.3):c.740C>T (p.P247L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45954662G>A" "" "likely benign" "" "0000276202" "0" "50" "18" "43435554" "43435554" "subst" "0" "01943" "EPG5_000003" "g.43435554G>A" "" "" "" "EPG5(NM_020964.3):c.7541C>T (p.T2514I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45855589G>A" "" "VUS" "" "0000325883" "0" "50" "18" "43438000" "43438000" "subst" "0" "01804" "EPG5_000004" "g.43438000C>A" "" "" "" "EPG5(NM_020964.2):c.7260G>T (p.(Trp2420Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45858035C>A" "" "VUS" "" "0000325884" "0" "30" "18" "43445747" "43445747" "dup" "0" "01804" "EPG5_000007" "g.43445747dup" "" "" "" "EPG5(NM_020964.2):c.6622-7dupT (p.(=)), EPG5(NM_020964.3):c.6622-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45865782dup" "" "likely benign" "" "0000325887" "0" "50" "18" "43460077" "43460077" "del" "0" "01804" "EPG5_000017" "g.43460077del" "" "" "" "EPG5(NM_020964.2):c.5631delT (p.(Ser1879AlafsTer12))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45880112del" "" "VUS" "" "0000325888" "0" "50" "18" "43460123" "43460123" "subst" "0.000928751" "01804" "EPG5_000019" "g.43460123C>T" "" "" "" "EPG5(NM_020964.2):c.5584G>A (p.(Ala1862Thr)), EPG5(NM_020964.3):c.5584G>A (p.A1862T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45880158C>T" "" "VUS" "" "0000325889" "0" "50" "18" "43460190" "43460190" "dup" "0" "01804" "EPG5_000021" "g.43460190dup" "" "" "" "EPG5(NM_020964.2):c.5519-2dupA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45880225dup" "" "VUS" "" "0000325890" "0" "10" "18" "43490652" "43490652" "subst" "0.00436871" "01804" "EPG5_000025" "g.43490652T>G" "" "" "" "EPG5(NM_020964.2):c.4039A>C (p.(Asn1347His)), EPG5(NM_020964.3):c.4039A>C (p.N1347H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45910687T>G" "" "benign" "" "0000325891" "0" "50" "18" "43492273" "43492273" "subst" "0.000582033" "01804" "EPG5_000026" "g.43492273C>T" "" "" "" "EPG5(NM_020964.2):c.3965G>A (p.(Arg1322His)), EPG5(NM_020964.3):c.3965G>A (p.R1322H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45912308C>T" "" "VUS" "" "0000325892" "0" "50" "18" "43502494" "43502494" "subst" "0.000994956" "01804" "EPG5_000030" "g.43502494A>C" "" "" "" "EPG5(NM_020964.2):c.2911T>G (p.(Leu971Val)), EPG5(NM_020964.3):c.2911T>G (p.L971V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45922528A>C" "" "VUS" "" "0000325893" "0" "50" "18" "43505732" "43505732" "subst" "0" "01804" "EPG5_000031" "g.43505732T>C" "" "" "" "EPG5(NM_020964.2):c.2690A>G (p.(Glu897Gly)), EPG5(NM_020964.3):c.2690A>G (p.E897G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45925766T>C" "" "VUS" "" "0000325894" "0" "50" "18" "43510795" "43510795" "subst" "0.000582815" "01804" "EPG5_000032" "g.43510795G>A" "" "" "" "EPG5(NM_020964.2):c.2259C>T (p.?), EPG5(NM_020964.3):c.2259C>T (p.D753=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45930829G>A" "" "VUS" "" "0000325896" "0" "50" "18" "43535169" "43535169" "subst" "0" "01804" "EPG5_000039" "g.43535169G>C" "" "" "" "EPG5(NM_020964.2):c.199C>G (p.(Gln67Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45955203G>C" "" "VUS" "" "0000325897" "0" "50" "18" "43535264" "43535264" "subst" "0.00118708" "01804" "EPG5_000040" "g.43535264C>T" "" "" "" "EPG5(NM_020964.2):c.104G>A (p.(Ser35Asn)), EPG5(NM_020964.3):c.104G>A (p.S35N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45955298C>T" "" "VUS" "" "0000340075" "0" "10" "18" "43490602" "43490602" "subst" "0.225319" "02327" "EPG5_000044" "g.43490602G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45910637G>A" "" "benign" "" "0000341184" "0" "10" "18" "43481075" "43481075" "subst" "0.237691" "02327" "EPG5_000043" "g.43481075G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45901110G>A" "" "benign" "" "0000342216" "0" "90" "18" "43447707" "43447707" "subst" "1.29078E-5" "02327" "EPG5_000042" "g.43447707G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45867742G>A" "" "pathogenic" "" "0000345571" "0" "10" "18" "43508856" "43508856" "subst" "0.0543392" "02327" "EPG5_000047" "g.43508856C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45928890C>G" "" "benign" "" "0000347450" "0" "10" "18" "43534824" "43534824" "subst" "0.0847156" "02327" "EPG5_000048" "g.43534824T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45954858T>C" "" "benign" "" "0000348005" "0" "50" "18" "43435620" "43435620" "subst" "0" "02327" "EPG5_000041" "g.43435620A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45855655A>C" "" "VUS" "" "0000348650" "0" "10" "18" "43496539" "43496539" "subst" "0.0267392" "02327" "EPG5_000045" "g.43496539G>A" "" "" "" "EPG5(NM_020964.2):c.3248C>T (p.(Ser1083Leu)), EPG5(NM_020964.3):c.3248C>T (p.S1083L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45916574G>A" "" "benign" "" "0000350237" "0" "10" "18" "43497710" "43497710" "subst" "0.489593" "02327" "EPG5_000046" "g.43497710A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45917745A>G" "" "benign" "" "0000351194" "0" "70" "18" "43458977" "43458977" "subst" "4.06316E-6" "02327" "EPG5_000015" "g.43458977C>T" "" "" "" "EPG5(NM_020964.3):c.5869+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45879012C>T" "" "likely pathogenic" "" "0000369316" "0" "70" "18" "43469762" "43469762" "subst" "0" "01807" "EPG5_000050" "g.43469762C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.45889797C>T" "" "likely pathogenic" "" "0000564790" "0" "30" "18" "43432551" "43432551" "subst" "0.0001584" "01943" "EPG5_000051" "g.43432551A>G" "" "" "" "EPG5(NM_020964.3):c.7621T>C (p.L2541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45852586A>G" "" "likely benign" "" "0000564791" "0" "30" "18" "43435523" "43435523" "subst" "0.00319013" "02327" "EPG5_000052" "g.43435523A>G" "" "" "" "EPG5(NM_020964.3):c.7557+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45855558A>G" "" "likely benign" "" "0000564792" "0" "50" "18" "43440193" "43440193" "subst" "0" "01943" "EPG5_000053" "g.43440193C>G" "" "" "" "EPG5(NM_020964.2):c.6885G>C (p.(Trp2295Cys)), EPG5(NM_020964.3):c.6885G>C (p.W2295C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45860228C>G" "" "VUS" "" "0000564793" "0" "30" "18" "43440223" "43440223" "subst" "0.000101639" "01943" "EPG5_000054" "g.43440223T>A" "" "" "" "EPG5(NM_020964.3):c.6855A>T (p.A2285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45860258T>A" "" "likely benign" "" "0000564794" "0" "50" "18" "43440239" "43440239" "subst" "7.72552E-5" "01943" "EPG5_000055" "g.43440239G>A" "" "" "" "EPG5(NM_020964.3):c.6839C>T (p.A2280V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45860274G>A" "" "VUS" "" "0000564795" "0" "50" "18" "43440291" "43440291" "subst" "6.92509E-5" "01943" "EPG5_000056" "g.43440291G>C" "" "" "" "EPG5(NM_020964.3):c.6787C>G (p.H2263D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45860326G>C" "" "VUS" "" "0000564796" "0" "50" "18" "43440293" "43440293" "subst" "0" "01943" "EPG5_000057" "g.43440293C>A" "" "" "" "EPG5(NM_020964.3):c.6785G>T (p.R2262L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45860328C>A" "" "VUS" "" "0000564799" "0" "30" "18" "43445746" "43445747" "del" "0" "01804" "EPG5_000060" "g.43445746_43445747del" "" "" "" "EPG5(NM_020964.2):c.6622-8_6622-7del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45865781_45865782del" "" "likely benign" "" "0000564800" "0" "10" "18" "43445747" "43445747" "del" "0" "01804" "EPG5_000006" "g.43445747del" "" "" "" "EPG5(NM_020964.2):c.6622-7del (p.(=)), EPG5(NM_020964.3):c.6622-6delT, EPG5(NM_020964.3):c.6622-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45865782del" "" "benign" "" "0000564801" "0" "30" "18" "43445747" "43445747" "dup" "0" "01943" "EPG5_000007" "g.43445747dup" "" "" "" "EPG5(NM_020964.2):c.6622-7dupT (p.(=)), EPG5(NM_020964.3):c.6622-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45865782dup" "" "likely benign" "" "0000564802" "0" "30" "18" "43445747" "43445747" "dup" "0" "02326" "EPG5_000007" "g.43445747dup" "" "" "" "EPG5(NM_020964.2):c.6622-7dupT (p.(=)), EPG5(NM_020964.3):c.6622-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45865782dup" "" "likely benign" "" "0000564803" "0" "10" "18" "43446734" "43446734" "subst" "0.763367" "02327" "EPG5_000061" "g.43446734T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45866769T>C" "" "benign" "" "0000564805" "0" "30" "18" "43456241" "43456241" "subst" "0" "01943" "EPG5_000062" "g.43456241C>T" "" "" "" "EPG5(NM_020964.3):c.6009G>A (p.L2003=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45876276C>T" "" "likely benign" "" "0000564807" "0" "50" "18" "43456269" "43456269" "subst" "6.90395E-5" "01943" "EPG5_000064" "g.43456269G>A" "" "" "" "EPG5(NM_020964.3):c.5981C>T (p.T1994I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45876304G>A" "" "VUS" "" "0000564808" "0" "30" "18" "43456296" "43456296" "subst" "0.00500357" "01804" "EPG5_000065" "g.43456296C>T" "" "" "" "EPG5(NM_020964.2):c.5954G>A (p.(Arg1985Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45876331C>T" "" "likely benign" "" "0000564809" "0" "30" "18" "43458960" "43458960" "subst" "0.000741719" "02326" "EPG5_000066" "g.43458960G>A" "" "" "" "EPG5(NM_020964.3):c.5869+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45878995G>A" "" "likely benign" "" "0000564810" "0" "10" "18" "43460116" "43460116" "subst" "0.0125318" "01804" "EPG5_000067" "g.43460116C>T" "" "" "" "EPG5(NM_020964.2):c.5591G>A (p.(Ser1864Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45880151C>T" "" "benign" "" "0000564812" "0" "10" "18" "43460123" "43460123" "subst" "0.000928751" "01943" "EPG5_000019" "g.43460123C>T" "" "" "" "EPG5(NM_020964.2):c.5584G>A (p.(Ala1862Thr)), EPG5(NM_020964.3):c.5584G>A (p.A1862T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45880158C>T" "" "benign" "" "0000564813" "0" "30" "18" "43460162" "43460162" "subst" "7.21403E-5" "02327" "EPG5_000068" "g.43460162C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45880197C>T" "" "likely benign" "" "0000564814" "0" "30" "18" "43462429" "43462429" "subst" "3.66187E-5" "01943" "EPG5_000069" "g.43462429G>A" "" "" "" "EPG5(NM_020964.3):c.5328C>T (p.S1776=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45882464G>A" "" "likely benign" "" "0000564815" "0" "30" "18" "43467755" "43467755" "subst" "0.000258616" "01943" "EPG5_000070" "g.43467755T>C" "" "" "" "EPG5(NM_020964.3):c.5070A>G (p.T1690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45887790T>C" "" "likely benign" "" "0000564816" "0" "30" "18" "43467773" "43467773" "subst" "0.000482452" "01943" "EPG5_000071" "g.43467773C>T" "" "" "" "EPG5(NM_020964.3):c.5052G>A (p.T1684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45887808C>T" "" "likely benign" "" "0000564817" "0" "50" "18" "43467773" "43467773" "subst" "0.000482452" "02327" "EPG5_000071" "g.43467773C>T" "" "" "" "EPG5(NM_020964.3):c.5052G>A (p.T1684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45887808C>T" "" "VUS" "" "0000564819" "0" "90" "18" "43469853" "43469853" "subst" "0" "02325" "EPG5_000073" "g.43469853C>T" "" "" "" "EPG5(NM_020964.3):c.4862G>A (p.R1621Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45889888C>T" "" "pathogenic" "" "0000564820" "0" "50" "18" "43469890" "43469891" "ins" "0" "01943" "EPG5_000074" "g.43469890_43469891insTA" "" "" "" "EPG5(NM_020964.3):c.4824_4825insTA (p.K1609*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45889925_45889926insTA" "" "VUS" "" "0000564821" "0" "50" "18" "43469892" "43469892" "subst" "0" "01943" "EPG5_000075" "g.43469892T>G" "" "" "" "EPG5(NM_020964.3):c.4823A>C (p.H1608P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45889927T>G" "" "VUS" "" "0000564822" "0" "30" "18" "43479387" "43479387" "subst" "0.000235594" "01943" "EPG5_000076" "g.43479387G>A" "" "" "" "EPG5(NM_020964.3):c.4791C>T (p.A1597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45899422G>A" "" "likely benign" "" "0000564824" "0" "50" "18" "43481023" "43481023" "subst" "0.000459297" "01943" "EPG5_000078" "g.43481023C>G" "" "" "" "EPG5(NM_020964.3):c.4584G>C (p.L1528F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45901058C>G" "" "VUS" "" "0000564825" "0" "30" "18" "43490539" "43490539" "subst" "0.000284613" "01943" "EPG5_000079" "g.43490539G>C" "" "" "" "EPG5(NM_020964.3):c.4152C>G (p.H1384Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45910574G>C" "" "likely benign" "" "0000564826" "0" "30" "18" "43490557" "43490557" "subst" "0.000975269" "01943" "EPG5_000080" "g.43490557T>C" "" "" "" "EPG5(NM_020964.3):c.4134A>G (p.E1378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45910592T>C" "" "likely benign" "" "0000564827" "0" "50" "18" "43492273" "43492273" "subst" "0.000582033" "01943" "EPG5_000026" "g.43492273C>T" "" "" "" "EPG5(NM_020964.2):c.3965G>A (p.(Arg1322His)), EPG5(NM_020964.3):c.3965G>A (p.R1322H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45912308C>T" "" "VUS" "" "0000564828" "0" "90" "18" "43496075" "43496075" "subst" "4.06207E-6" "02327" "EPG5_000081" "g.43496075G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45916110G>A" "" "pathogenic" "" "0000564829" "0" "50" "18" "43496110" "43496110" "subst" "0" "01804" "EPG5_000082" "g.43496110C>A" "" "" "" "EPG5(NM_020964.2):c.3446G>T (p.(Trp1149Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45916145C>A" "" "VUS" "" "0000564830" "0" "50" "18" "43496507" "43496507" "subst" "0.000260285" "01943" "EPG5_000083" "g.43496507C>T" "" "" "" "EPG5(NM_020964.3):c.3280G>A (p.G1094S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45916542C>T" "" "VUS" "" "0000564831" "0" "10" "18" "43496539" "43496539" "subst" "0.0267392" "02326" "EPG5_000045" "g.43496539G>A" "" "" "" "EPG5(NM_020964.2):c.3248C>T (p.(Ser1083Leu)), EPG5(NM_020964.3):c.3248C>T (p.S1083L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45916574G>A" "" "benign" "" "0000564832" "0" "30" "18" "43496563" "43496563" "subst" "0.000601599" "02326" "EPG5_000084" "g.43496563G>A" "" "" "" "EPG5(NM_020964.3):c.3240-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45916598G>A" "" "likely benign" "" "0000564833" "0" "50" "18" "43505732" "43505732" "subst" "0" "01943" "EPG5_000031" "g.43505732T>C" "" "" "" "EPG5(NM_020964.2):c.2690A>G (p.(Glu897Gly)), EPG5(NM_020964.3):c.2690A>G (p.E897G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45925766T>C" "" "VUS" "" "0000564834" "0" "30" "18" "43508800" "43508800" "subst" "0.167653" "02327" "EPG5_000085" "g.43508800G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45928834G>A" "" "likely benign" "" "0000564835" "0" "30" "18" "43508987" "43508987" "dup" "0" "01943" "EPG5_000086" "g.43508987dup" "" "" "" "EPG5(NM_020964.3):c.2413-7dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45929021dup" "" "likely benign" "" "0000564836" "0" "30" "18" "43510795" "43510795" "subst" "0.000582815" "01943" "EPG5_000032" "g.43510795G>A" "" "" "" "EPG5(NM_020964.2):c.2259C>T (p.?), EPG5(NM_020964.3):c.2259C>T (p.D753=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45930829G>A" "" "likely benign" "" "0000564837" "0" "10" "18" "43519602" "43519602" "subst" "0.000759477" "01943" "EPG5_000087" "g.43519602A>G" "" "" "" "EPG5(NM_020964.3):c.2063T>C (p.F688S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45939636A>G" "" "benign" "" "0000564838" "0" "30" "18" "43519602" "43519602" "subst" "0.000759477" "02326" "EPG5_000087" "g.43519602A>G" "" "" "" "EPG5(NM_020964.3):c.2063T>C (p.F688S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45939636A>G" "" "likely benign" "" "0000564839" "0" "30" "18" "43519646" "43519646" "subst" "0" "01943" "EPG5_000088" "g.43519646C>A" "" "" "" "EPG5(NM_020964.3):c.2019G>T (p.Q673H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45939680C>A" "" "likely benign" "" "0000564840" "0" "30" "18" "43519659" "43519659" "subst" "4.06128E-6" "01943" "EPG5_000089" "g.43519659C>T" "" "" "" "EPG5(NM_020964.3):c.2006G>A (p.G669E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45939693C>T" "" "likely benign" "" "0000564841" "0" "50" "18" "43519717" "43519717" "subst" "3.25608E-5" "01943" "EPG5_000090" "g.43519717T>C" "" "" "" "EPG5(NM_020964.3):c.1948A>G (p.T650A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45939751T>C" "" "VUS" "" "0000564842" "0" "30" "18" "43523203" "43523203" "subst" "0.000239617" "01943" "EPG5_000091" "g.43523203G>T" "" "" "" "EPG5(NM_020964.3):c.1867C>A (p.L623I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45943237G>T" "" "likely benign" "" "0000564843" "0" "50" "18" "43523240" "43523240" "subst" "0.000203084" "01943" "EPG5_000092" "g.43523240C>T" "" "" "" "EPG5(NM_020964.3):c.1830G>A (p.M610I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45943274C>T" "" "VUS" "" "0000564845" "0" "10" "18" "43523312" "43523312" "subst" "0.248721" "02327" "EPG5_000094" "g.43523312G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45943346G>A" "" "benign" "" "0000564846" "0" "30" "18" "43523997" "43523997" "subst" "0.0121308" "01804" "EPG5_000095" "g.43523997T>C" "" "" "" "EPG5(NM_020964.2):c.1766A>G (p.(Gln589Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45944031T>C" "" "likely benign" "" "0000564847" "0" "30" "18" "43528462" "43528462" "subst" "0.000357692" "01943" "EPG5_000096" "g.43528462C>T" "" "" "" "EPG5(NM_020964.3):c.1571+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45948496C>T" "" "likely benign" "" "0000564848" "0" "10" "18" "43529486" "43529486" "subst" "0.000886489" "01943" "EPG5_000097" "g.43529486G>A" "" "" "" "EPG5(NM_020964.3):c.1461C>T (p.P487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45949520G>A" "" "benign" "" "0000564849" "0" "50" "18" "43529490" "43529490" "subst" "0" "01943" "EPG5_000098" "g.43529490C>A" "" "" "" "EPG5(NM_020964.3):c.1457G>T (p.C486F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45949524C>A" "" "VUS" "" "0000564850" "0" "90" "18" "43529494" "43529494" "subst" "1.2195E-5" "01943" "EPG5_000099" "g.43529494G>A" "" "" "" "EPG5(NM_020964.3):c.1453C>T (p.R485*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45949528G>A" "" "pathogenic" "" "0000564851" "0" "10" "18" "43531186" "43531186" "subst" "0.0110249" "01943" "EPG5_000100" "g.43531186C>T" "" "" "" "EPG5(NM_020964.2):c.1271G>A (p.(Ser424Asn)), EPG5(NM_020964.3):c.1271G>A (p.S424N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45951220C>T" "" "benign" "" "0000564852" "0" "10" "18" "43531186" "43531186" "subst" "0.0110249" "01804" "EPG5_000100" "g.43531186C>T" "" "" "" "EPG5(NM_020964.2):c.1271G>A (p.(Ser424Asn)), EPG5(NM_020964.3):c.1271G>A (p.S424N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45951220C>T" "" "benign" "" "0000564853" "0" "30" "18" "43531186" "43531186" "subst" "0.0110249" "02327" "EPG5_000100" "g.43531186C>T" "" "" "" "EPG5(NM_020964.2):c.1271G>A (p.(Ser424Asn)), EPG5(NM_020964.3):c.1271G>A (p.S424N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45951220C>T" "" "likely benign" "" "0000564854" "0" "10" "18" "43531186" "43531186" "subst" "0.0110249" "02326" "EPG5_000100" "g.43531186C>T" "" "" "" "EPG5(NM_020964.2):c.1271G>A (p.(Ser424Asn)), EPG5(NM_020964.3):c.1271G>A (p.S424N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45951220C>T" "" "benign" "" "0000564855" "0" "30" "18" "43531241" "43531241" "subst" "0.0426476" "02327" "EPG5_000101" "g.43531241T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45951275T>C" "" "likely benign" "" "0000564856" "0" "30" "18" "43532601" "43532601" "subst" "2.84594E-5" "01943" "EPG5_000102" "g.43532601A>G" "" "" "" "EPG5(NM_020964.3):c.1017T>C (p.C339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45952635A>G" "" "likely benign" "" "0000564857" "0" "30" "18" "43532618" "43532619" "dup" "0" "01943" "EPG5_000103" "g.43532618_43532619dup" "" "" "" "EPG5(NM_020964.3):c.1009-10_1009-9dupCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45952652_45952653dup" "" "likely benign" "" "0000564858" "0" "30" "18" "43534568" "43534568" "subst" "0.00116202" "01943" "EPG5_000037" "g.43534568G>A" "" "" "" "EPG5(NM_020964.3):c.800C>T (p.S267L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45954602G>A" "" "likely benign" "" "0000564859" "0" "30" "18" "43534568" "43534568" "subst" "0.00116202" "02326" "EPG5_000037" "g.43534568G>A" "" "" "" "EPG5(NM_020964.3):c.800C>T (p.S267L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45954602G>A" "" "likely benign" "" "0000564860" "0" "30" "18" "43535069" "43535069" "subst" "0.000687668" "01804" "EPG5_000104" "g.43535069G>A" "" "" "" "EPG5(NM_020964.2):c.299C>T (p.(Thr100Ile)), EPG5(NM_020964.3):c.299C>T (p.T100I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45955103G>A" "" "likely benign" "" "0000564861" "0" "30" "18" "43535154" "43535154" "subst" "0.00113318" "02326" "EPG5_000105" "g.43535154C>T" "" "" "" "EPG5(NM_020964.3):c.214G>A (p.A72T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45955188C>T" "" "likely benign" "" "0000617158" "0" "30" "18" "43450570" "43450570" "subst" "3.65592E-5" "01943" "EPG5_000106" "g.43450570G>A" "" "" "" "EPG5(NM_020964.3):c.6187C>T (p.L2063=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45870605G>A" "" "likely benign" "" "0000617159" "0" "50" "18" "43469853" "43469853" "subst" "0" "01943" "EPG5_000073" "g.43469853C>T" "" "" "" "EPG5(NM_020964.3):c.4862G>A (p.R1621Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45889888C>T" "" "VUS" "" "0000617160" "0" "30" "18" "43481063" "43481063" "subst" "0.000382201" "01943" "EPG5_000109" "g.43481063G>A" "" "" "" "EPG5(NM_020964.3):c.4544C>T (p.T1515M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45901098G>A" "" "likely benign" "" "0000617161" "0" "30" "18" "43488043" "43488043" "subst" "0" "01804" "EPG5_000110" "g.43488043G>A" "" "" "" "EPG5(NM_020964.2):c.4209C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45908078G>A" "" "likely benign" "" "0000617162" "0" "10" "18" "43496508" "43496508" "subst" "0.00972615" "01804" "EPG5_000113" "g.43496508G>A" "" "" "" "EPG5(NM_020964.2):c.3279C>T (p.(Ser1093=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45916543G>A" "" "benign" "" "0000617163" "0" "50" "18" "43505701" "43505701" "subst" "0.000204214" "01943" "EPG5_000115" "g.43505701T>C" "" "" "" "EPG5(NM_020964.3):c.2718+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45925735T>C" "" "VUS" "" "0000617164" "0" "30" "18" "43505803" "43505803" "subst" "0" "01943" "EPG5_000116" "g.43505803C>T" "" "" "" "EPG5(NM_020964.3):c.2619G>A (p.A873=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45925837C>T" "" "likely benign" "" "0000617165" "0" "30" "18" "43514799" "43514799" "subst" "0.000199578" "01804" "EPG5_000117" "g.43514799C>T" "" "" "" "EPG5(NM_020964.2):c.2233G>A (p.(Ala745Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45934833C>T" "" "likely benign" "" "0000617166" "0" "50" "18" "43534400" "43534400" "subst" "7.33174E-5" "01943" "EPG5_000118" "g.43534400C>A" "" "" "" "EPG5(NM_020964.3):c.968G>T (p.S323I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45954434C>A" "" "VUS" "" "0000617167" "0" "30" "18" "43534660" "43534660" "subst" "0.000138162" "01943" "EPG5_000119" "g.43534660C>T" "" "" "" "EPG5(NM_020964.3):c.708G>A (p.L236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45954694C>T" "" "likely benign" "" "0000617168" "0" "30" "18" "43534961" "43534961" "subst" "3.24915E-5" "01943" "EPG5_000120" "g.43534961T>C" "" "" "" "EPG5(NM_020964.3):c.407A>G (p.K136R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45954995T>C" "" "likely benign" "" "0000617169" "0" "30" "18" "43535069" "43535069" "subst" "0.000687668" "01943" "EPG5_000104" "g.43535069G>A" "" "" "" "EPG5(NM_020964.2):c.299C>T (p.(Thr100Ile)), EPG5(NM_020964.3):c.299C>T (p.T100I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45955103G>A" "" "likely benign" "" "0000617170" "0" "30" "18" "43547173" "43547173" "subst" "0.00130134" "01804" "EPG5_000122" "g.43547173G>C" "" "" "" "EPG5(NM_020964.2):c.33C>G (p.(=)), EPG5(NM_020964.3):c.33C>G (p.A11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45967207G>C" "" "likely benign" "" "0000623847" "0" "50" "18" "43450689" "43450689" "subst" "0" "02325" "EPG5_000107" "g.43450689T>A" "" "" "" "EPG5(NM_020964.3):c.6068A>T (p.D2023V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45870724T>A" "" "VUS" "" "0000623848" "0" "30" "18" "43460097" "43460097" "subst" "1.23426E-5" "01943" "EPG5_000108" "g.43460097C>T" "" "" "" "EPG5(NM_020964.3):c.5610G>A (p.A1870=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45880132C>T" "" "likely benign" "" "0000623850" "0" "30" "18" "43496018" "43496018" "subst" "4.06309E-6" "01943" "EPG5_000112" "g.43496018T>C" "" "" "" "EPG5(NM_020964.3):c.3538A>G (p.M1180V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45916053T>C" "" "likely benign" "" "0000623851" "0" "50" "18" "43502407" "43502407" "subst" "0.000556363" "01943" "EPG5_000114" "g.43502407T>C" "" "" "" "EPG5(NM_020964.3):c.2998A>G (p.M1000V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45922441T>C" "" "VUS" "" "0000623852" "0" "30" "18" "43535113" "43535113" "subst" "2.03194E-5" "01943" "EPG5_000121" "g.43535113G>A" "" "" "" "EPG5(NM_020964.3):c.255C>T (p.L85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45955147G>A" "" "likely benign" "" "0000649814" "1" "10" "18" "43432625" "43432625" "subst" "0.104929" "03575" "EPG5_000123" "g.43432625C>T" "243/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "243 heterozygous; {DB:CLININrs57761448}" "Germline" "" "rs57761448" "0" "" "" "g.45852660C>T" "" "benign" "" "0000649815" "1" "10" "18" "43496508" "43496508" "subst" "0.00972615" "03575" "EPG5_000113" "g.43496508G>A" "19/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "19 heterozygous, no homozygous; {DB:CLININrs72918350}" "Germline" "" "rs72918350" "0" "" "" "g.45916543G>A" "" "benign" "" "0000649817" "1" "10" "18" "43534628" "43534628" "subst" "0.00652216" "03575" "EPG5_000038" "g.43534628G>A" "30/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "30 heterozygous; {DB:CLININrs140494095}" "Germline" "" "rs140494095" "0" "" "" "g.45954662G>A" "" "benign" "" "0000658378" "0" "30" "18" "43445616" "43445616" "subst" "0.000564623" "01943" "EPG5_000124" "g.43445616T>C" "" "" "" "EPG5(NM_020964.3):c.6730A>G (p.K2244E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45865651T>C" "" "likely benign" "" "0000658379" "0" "30" "18" "43447589" "43447589" "subst" "8.12704E-6" "01943" "EPG5_000001" "g.43447589A>G" "" "" "" "EPG5(NM_020964.3):c.6350T>C (p.I2117T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45867624A>G" "" "likely benign" "" "0000658380" "0" "30" "18" "43450595" "43450595" "subst" "0.000507742" "01943" "EPG5_000125" "g.43450595C>T" "" "" "" "EPG5(NM_020964.3):c.6162G>A (p.T2054=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45870630C>T" "" "likely benign" "" "0000658381" "0" "50" "18" "43490657" "43490657" "subst" "0.000121928" "01804" "EPG5_000126" "g.43490657T>C" "" "" "" "EPG5(NM_020964.2):c.4034A>G (p.(His1345Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45910692T>C" "" "VUS" "" "0000658382" "0" "30" "18" "43502328" "43502328" "subst" "0" "02326" "EPG5_000127" "g.43502328G>C" "" "" "" "EPG5(NM_020964.3):c.3077C>G (p.S1026C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45922362G>C" "" "likely benign" "" "0000658383" "0" "30" "18" "43514854" "43514854" "subst" "0" "01943" "EPG5_000128" "g.43514854G>T" "" "" "" "EPG5(NM_020964.3):c.2178C>A (p.L726=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45934888G>T" "" "likely benign" "" "0000658384" "0" "30" "18" "43534930" "43534930" "subst" "0.000548968" "01943" "EPG5_000129" "g.43534930C>T" "" "" "" "EPG5(NM_020964.3):c.438G>A (p.S146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45954964C>T" "" "likely benign" "" "0000669442" "3" "10" "18" "43432625" "43432625" "subst" "0.104929" "03575" "EPG5_000123" "g.43432625C>T" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs57761448}" "Germline" "" "rs57761448" "0" "" "" "g.45852660C>T" "" "benign" "" "0000669443" "3" "10" "18" "43534628" "43534628" "subst" "0.00652216" "03575" "EPG5_000038" "g.43534628G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs140494095}" "Germline" "" "rs140494095" "0" "" "" "g.45954662G>A" "" "benign" "" "0000681150" "0" "50" "18" "43432482" "43432482" "subst" "0" "01943" "EPG5_000130" "g.43432482G>C" "" "" "" "EPG5(NM_020964.3):c.7690C>G (p.L2564V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681151" "0" "30" "18" "43460091" "43460091" "subst" "4.52407E-5" "02326" "EPG5_000131" "g.43460091G>T" "" "" "" "EPG5(NM_020964.3):c.5616C>A (p.T1872=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681152" "0" "50" "18" "43460105" "43460105" "subst" "4.53283E-5" "01943" "EPG5_000132" "g.43460105C>A" "" "" "" "EPG5(NM_020964.3):c.5602G>T (p.G1868W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681153" "0" "30" "18" "43462450" "43462450" "subst" "1.70311E-5" "01804" "EPG5_000133" "g.43462450G>A" "" "" "" "EPG5(NM_020964.2):c.5307C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681154" "0" "30" "18" "43481026" "43481026" "subst" "0.000540602" "01943" "EPG5_000134" "g.43481026T>C" "" "" "" "EPG5(NM_020964.3):c.4581A>G (p.L1527=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681155" "0" "30" "18" "43508962" "43508962" "subst" "0.000158548" "01943" "EPG5_000135" "g.43508962G>A" "" "" "" "EPG5(NM_020964.3):c.2426C>T (p.T809I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681156" "0" "50" "18" "43510751" "43510751" "subst" "0.000184102" "01943" "EPG5_000136" "g.43510751T>C" "" "" "" "EPG5(NM_020964.3):c.2303A>G (p.N768S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000685190" "0" "90" "18" "43496109" "43496109" "subst" "0" "00004" "EPG5_000137" "g.43496109C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685191" "0" "70" "18" "43505813" "43505813" "subst" "4.60265E-6" "00004" "EPG5_000138" "g.43505813G>C" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000692596" "0" "30" "18" "43432480" "43432480" "subst" "1.21843E-5" "02326" "EPG5_000139" "g.43432480G>A" "" "" "" "EPG5(NM_020964.3):c.7692C>T (p.L2564=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692597" "0" "50" "18" "43447647" "43447647" "subst" "1.62509E-5" "01943" "EPG5_000140" "g.43447647C>A" "" "" "" "EPG5(NM_020964.3):c.6292G>T (p.V2098F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692598" "0" "30" "18" "43450727" "43450727" "subst" "0.000107823" "02326" "EPG5_000141" "g.43450727T>C" "" "" "" "EPG5(NM_020964.3):c.6050-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692599" "0" "10" "18" "43459147" "43459147" "subst" "0.00307652" "01804" "EPG5_000142" "g.43459147A>G" "" "" "" "EPG5(NM_020964.2):c.5700T>C (p.(Phe1900=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692600" "0" "30" "18" "43480986" "43480986" "subst" "1.22053E-5" "01943" "EPG5_000143" "g.43480986G>A" "" "" "" "EPG5(NM_020964.3):c.4621C>T (p.L1541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692601" "0" "50" "18" "43490486" "43490486" "subst" "2.95723E-5" "01943" "EPG5_000144" "g.43490486C>T" "" "" "" "EPG5(NM_020964.3):c.4205G>A (p.R1402K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692602" "0" "30" "18" "43492340" "43492340" "subst" "6.97923E-5" "01943" "EPG5_000145" "g.43492340C>T" "" "" "" "EPG5(NM_020964.3):c.3898G>A (p.V1300I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692603" "0" "30" "18" "43496175" "43496175" "subst" "0.000145413" "01943" "EPG5_000146" "g.43496175T>A" "" "" "" "EPG5(NM_020964.3):c.3385-4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692604" "0" "30" "18" "43519674" "43519674" "subst" "0" "01943" "EPG5_000147" "g.43519674T>G" "" "" "" "EPG5(NM_020964.3):c.1991A>C (p.H664P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692605" "0" "50" "18" "43523275" "43523275" "subst" "4.06438E-6" "02325" "EPG5_000148" "g.43523275C>A" "" "" "" "EPG5(NM_020964.3):c.1795G>T (p.D599Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692606" "0" "30" "18" "43526693" "43526693" "subst" "0.000174628" "01943" "EPG5_000149" "g.43526693C>T" "" "" "" "EPG5(NM_020964.3):c.1613G>A (p.R538Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726884" "0" "50" "18" "43534397" "43534397" "subst" "0.000134627" "01943" "EPG5_000150" "g.43534397C>T" "" "" "" "EPG5(NM_020964.3):c.971G>A (p.R324Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726885" "0" "50" "18" "43534607" "43534607" "subst" "0" "01943" "EPG5_000151" "g.43534607G>A" "" "" "" "EPG5(NM_020964.3):c.761C>T (p.P254L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726886" "0" "30" "18" "43535122" "43535122" "subst" "8.12572E-6" "01943" "EPG5_000152" "g.43535122A>G" "" "" "" "EPG5(NM_020964.3):c.246T>C (p.D82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726887" "0" "30" "18" "43535154" "43535154" "subst" "0.00113318" "01943" "EPG5_000105" "g.43535154C>T" "" "" "" "EPG5(NM_020964.3):c.214G>A (p.A72T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726888" "0" "30" "18" "43547194" "43547194" "subst" "8.96765E-6" "02325" "EPG5_000153" "g.43547194C>A" "" "" "" "EPG5(NM_020964.3):c.12G>T (p.A4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000733990" "0" "70" "18" "43534628" "43534628" "subst" "0.00652216" "04011" "EPG5_000038" "g.43534628G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734024" "0" "70" "18" "43460089" "43460089" "subst" "0.00100697" "04011" "EPG5_000156" "g.43460089T>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734039" "0" "70" "18" "43534628" "43534628" "subst" "0.00652216" "04011" "EPG5_000038" "g.43534628G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734057" "0" "70" "18" "43496165" "43496165" "subst" "0.000801617" "04011" "EPG5_000157" "g.43496165T>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734154" "0" "70" "18" "43510680" "43510680" "subst" "0.000291737" "04011" "EPG5_000158" "g.43510680C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734203" "0" "70" "18" "43496165" "43496165" "subst" "0.000801617" "04011" "EPG5_000157" "g.43496165T>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734232" "0" "70" "18" "43460089" "43460089" "subst" "0.00100697" "04011" "EPG5_000156" "g.43460089T>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734326" "0" "70" "18" "43447567" "43447567" "subst" "0.00031721" "04011" "EPG5_000154" "g.43447567C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734436" "0" "70" "18" "43447567" "43447567" "subst" "0.000207406" "04011" "EPG5_000155" "g.43447567C>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734443" "0" "70" "18" "43510680" "43510680" "subst" "0.000291737" "04011" "EPG5_000158" "g.43510680C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734454" "0" "70" "18" "43534628" "43534628" "subst" "0.00652216" "04011" "EPG5_000038" "g.43534628G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734455" "0" "70" "18" "43462449" "43462449" "subst" "0.000412545" "04011" "EPG5_000160" "g.43462449C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734585" "0" "70" "18" "43526697" "43526697" "subst" "0.000540132" "04011" "EPG5_000162" "g.43526697C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734645" "0" "70" "18" "43447567" "43447567" "subst" "0.000207406" "04011" "EPG5_000155" "g.43447567C>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734651" "0" "70" "18" "43460089" "43460089" "subst" "0.00100697" "04011" "EPG5_000156" "g.43460089T>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734983" "0" "70" "18" "43496165" "43496165" "subst" "0.000801617" "04011" "EPG5_000157" "g.43496165T>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735005" "0" "70" "18" "43447567" "43447567" "subst" "0.000207406" "04011" "EPG5_000155" "g.43447567C>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735116" "0" "70" "18" "43526697" "43526697" "subst" "0.000540132" "04011" "EPG5_000162" "g.43526697C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735123" "0" "70" "18" "43510753" "43510753" "subst" "0" "04011" "EPG5_000161" "g.43510753C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735146" "0" "70" "18" "43526697" "43526697" "subst" "0.000540132" "04011" "EPG5_000162" "g.43526697C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735260" "0" "70" "18" "43460089" "43460089" "subst" "0.00100697" "04011" "EPG5_000156" "g.43460089T>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735511" "0" "70" "18" "43456260" "43456260" "subst" "0" "04011" "EPG5_000159" "g.43456260G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000808489" "0" "30" "18" "43445581" "43445581" "subst" "0.000195263" "01943" "EPG5_000163" "g.43445581G>A" "" "" "" "EPG5(NM_020964.3):c.6765C>T (p.P2255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808490" "0" "50" "18" "43445585" "43445585" "subst" "3.25378E-5" "01943" "EPG5_000164" "g.43445585G>A" "" "" "" "EPG5(NM_020964.3):c.6761C>T (p.P2254L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808491" "0" "30" "18" "43450679" "43450679" "subst" "0.000284507" "01943" "EPG5_000165" "g.43450679G>T" "" "" "" "EPG5(NM_020964.3):c.6078C>A (p.A2026=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808492" "0" "30" "18" "43490557" "43490557" "subst" "0.000975269" "02326" "EPG5_000080" "g.43490557T>C" "" "" "" "EPG5(NM_020964.3):c.4134A>G (p.E1378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808493" "0" "30" "18" "43495965" "43495965" "subst" "0" "01943" "EPG5_000166" "g.43495965G>A" "" "" "" "EPG5(NM_020964.3):c.3582+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808494" "0" "50" "18" "43496044" "43496044" "subst" "0" "01943" "EPG5_000167" "g.43496044T>C" "" "" "" "EPG5(NM_020964.3):c.3512A>G (p.H1171R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808495" "0" "50" "18" "43534517" "43534517" "subst" "4.06256E-6" "01943" "EPG5_000168" "g.43534517T>C" "" "" "" "EPG5(NM_020964.3):c.851A>G (p.H284R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855304" "0" "30" "18" "43479412" "43479412" "subst" "6.09305E-5" "01943" "EPG5_000172" "g.43479412C>T" "" "" "" "EPG5(NM_020964.3):c.4766G>A (p.S1589N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855305" "0" "30" "18" "43481014" "43481014" "subst" "0" "01943" "EPG5_000173" "g.43481014C>T" "" "" "" "EPG5(NM_020964.3):c.4593G>A (p.K1531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855306" "0" "90" "18" "43523146" "43523146" "subst" "4.06194E-6" "01943" "EPG5_000179" "g.43523146G>A" "" "" "" "EPG5(NM_020964.3):c.1924C>T (p.R642*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855307" "0" "50" "18" "43529530" "43529530" "subst" "0" "01943" "EPG5_000181" "g.43529530G>A" "" "" "" "EPG5(NM_020964.3):c.1417C>T (p.P473S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855308" "0" "30" "18" "43534744" "43534744" "subst" "3.2607E-5" "01943" "EPG5_000183" "g.43534744C>T" "" "" "" "EPG5(NM_020964.3):c.624G>A (p.Q208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865687" "0" "70" "18" "43438751" "43438751" "del" "0" "01943" "EPG5_000169" "g.43438751del" "" "" "" "EPG5(NM_020964.3):c.7010-2delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000865688" "0" "30" "18" "43446868" "43446868" "subst" "0.00397699" "02326" "EPG5_000170" "g.43446868G>A" "" "" "" "EPG5(NM_020964.3):c.6516C>T (p.Y2172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865689" "0" "30" "18" "43447618" "43447618" "subst" "4.06286E-6" "02326" "EPG5_000171" "g.43447618G>A" "" "" "" "EPG5(NM_020964.3):c.6321C>T (p.S2107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865690" "0" "30" "18" "43490479" "43490479" "subst" "2.57319E-5" "01943" "EPG5_000174" "g.43490479T>A" "" "" "" "EPG5(NM_020964.3):c.4205+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865691" "0" "30" "18" "43496124" "43496124" "subst" "4.06388E-6" "01943" "EPG5_000175" "g.43496124A>G" "" "" "" "EPG5(NM_020964.3):c.3432T>C (p.A1144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865692" "0" "10" "18" "43496539" "43496539" "subst" "0.0267392" "01804" "EPG5_000045" "g.43496539G>A" "" "" "" "EPG5(NM_020964.2):c.3248C>T (p.(Ser1083Leu)), EPG5(NM_020964.3):c.3248C>T (p.S1083L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865693" "0" "30" "18" "43502391" "43502391" "subst" "8.12216E-6" "01943" "EPG5_000176" "g.43502391G>A" "" "" "" "EPG5(NM_020964.3):c.3014C>T (p.T1005M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865694" "0" "30" "18" "43502447" "43502447" "subst" "2.43677E-5" "02326" "EPG5_000177" "g.43502447C>T" "" "" "" "EPG5(NM_020964.3):c.2958G>A (p.P986=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865695" "0" "30" "18" "43503263" "43503263" "subst" "4.06461E-5" "01943" "EPG5_000178" "g.43503263C>A" "" "" "" "EPG5(NM_020964.3):c.2809G>T (p.A937S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865696" "0" "30" "18" "43529529" "43529529" "subst" "0.000195146" "01943" "EPG5_000180" "g.43529529G>A" "" "" "" "EPG5(NM_020964.3):c.1418C>T (p.P473L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865697" "0" "30" "18" "43529548" "43529548" "subst" "0.00877607" "01804" "EPG5_000182" "g.43529548G>A" "" "" "" "EPG5(NM_020964.2):c.1399C>T (p.(Leu467=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865698" "0" "30" "18" "43534782" "43534782" "subst" "0.000353823" "01943" "EPG5_000184" "g.43534782C>T" "" "" "" "EPG5(NM_020964.3):c.586G>A (p.G196S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894566" "0" "30" "18" "43490727" "43490727" "subst" "0.000841081" "02326" "EPG5_000185" "g.43490727G>C" "" "" "" "EPG5(NM_020964.3):c.3984-20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894567" "0" "30" "18" "43495485" "43495485" "subst" "0" "02326" "EPG5_000186" "g.43495485C>T" "" "" "" "EPG5(NM_020964.3):c.3684G>A (p.T1228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894568" "0" "30" "18" "43505812" "43505812" "subst" "0" "02326" "EPG5_000187" "g.43505812A>C" "" "" "" "EPG5(NM_020964.3):c.2610T>G (p.S870=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894569" "0" "30" "18" "43534930" "43534930" "subst" "0.000548968" "02326" "EPG5_000129" "g.43534930C>T" "" "" "" "EPG5(NM_020964.3):c.438G>A (p.S146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894570" "0" "30" "18" "43535069" "43535069" "subst" "0.000687668" "02326" "EPG5_000104" "g.43535069G>A" "" "" "" "EPG5(NM_020964.2):c.299C>T (p.(Thr100Ile)), EPG5(NM_020964.3):c.299C>T (p.T100I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894571" "0" "30" "18" "43547173" "43547173" "subst" "0.00130134" "02326" "EPG5_000122" "g.43547173G>C" "" "" "" "EPG5(NM_020964.2):c.33C>G (p.(=)), EPG5(NM_020964.3):c.33C>G (p.A11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915060" "0" "10" "18" "43435523" "43435523" "subst" "0.00319013" "02326" "EPG5_000052" "g.43435523A>G" "" "" "" "EPG5(NM_020964.3):c.7557+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915061" "0" "30" "18" "43445747" "43445747" "del" "0" "02330" "EPG5_000006" "g.43445747del" "" "" "" "EPG5(NM_020964.2):c.6622-7del (p.(=)), EPG5(NM_020964.3):c.6622-6delT, EPG5(NM_020964.3):c.6622-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915062" "0" "30" "18" "43445747" "43445747" "del" "0" "02325" "EPG5_000006" "g.43445747del" "" "" "" "EPG5(NM_020964.2):c.6622-7del (p.(=)), EPG5(NM_020964.3):c.6622-6delT, EPG5(NM_020964.3):c.6622-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915063" "0" "30" "18" "43460123" "43460123" "subst" "0.000928751" "02326" "EPG5_000019" "g.43460123C>T" "" "" "" "EPG5(NM_020964.2):c.5584G>A (p.(Ala1862Thr)), EPG5(NM_020964.3):c.5584G>A (p.A1862T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915064" "0" "50" "18" "43462265" "43462265" "subst" "1.6247E-5" "02325" "EPG5_000188" "g.43462265C>T" "" "" "" "EPG5(NM_020964.3):c.5492G>A (p.S1831N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915065" "0" "30" "18" "43464657" "43464657" "subst" "0.00360179" "02326" "EPG5_000189" "g.43464657G>A" "" "" "" "EPG5(NM_020964.3):c.5229C>T (p.F1743=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915066" "0" "90" "18" "43496537" "43496538" "ins" "0" "02326" "EPG5_000190" "g.43496537_43496538insAG" "" "" "" "EPG5(NM_020964.3):c.3250_3251insTC (p.H1084Lfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915067" "0" "50" "18" "43532569" "43532569" "subst" "1.62521E-5" "02325" "EPG5_000191" "g.43532569C>A" "" "" "" "EPG5(NM_020964.3):c.1049G>T (p.R350L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915068" "0" "10" "18" "43547132" "43547132" "del" "0" "02325" "EPG5_000049" "g.43547132del" "" "" "" "EPG5(NM_020964.3):c.63+15delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000920285" "1" "50" "18" "43450645" "43450645" "subst" "8.12341E-6" "00006" "EPG5_000193" "g.43450645A>C" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.45870680A>C" "" "VUS" "ACMG" "0000920350" "2" "50" "18" "43447529" "43447529" "subst" "0" "00006" "EPG5_000192" "g.43447529G>C" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.45867564G>C" "" "VUS" "ACMG" "0000926744" "0" "30" "18" "43481063" "43481063" "subst" "0.000382201" "02326" "EPG5_000109" "g.43481063G>A" "" "" "" "EPG5(NM_020964.3):c.4544C>T (p.T1515M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926745" "0" "30" "18" "43496015" "43496015" "subst" "0" "02326" "EPG5_000194" "g.43496015G>C" "" "" "" "EPG5(NM_020964.3):c.3541C>G (p.Q1181E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930960" "0" "30" "18" "43432551" "43432551" "subst" "0.0001584" "02330" "EPG5_000051" "g.43432551A>G" "" "" "" "EPG5(NM_020964.3):c.7621T>C (p.L2541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951135" "0" "90" "18" "43438000" "43438000" "subst" "0" "02325" "EPG5_000195" "g.43438000C>T" "" "" "" "EPG5(NM_020964.3):c.7260G>A (p.W2420*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000951136" "0" "70" "18" "43459133" "43459133" "subst" "0" "02325" "EPG5_000196" "g.43459133C>T" "" "" "" "EPG5(NM_020964.3):c.5714G>A (p.R1905Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000951137" "0" "30" "18" "43529486" "43529486" "subst" "0.000886489" "02326" "EPG5_000097" "g.43529486G>A" "" "" "" "EPG5(NM_020964.3):c.1461C>T (p.P487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952370" "3" "50" "18" "43469824" "43469824" "subst" "0.000220008" "00006" "EPG5_000197" "g.43469824C>T" "" "{PMID:Chatron 2020:32282878}" "" "ENST00000282041:c.4891G>A" "" "Germline" "" "" "0" "" "" "g.45889859C>T" "" "VUS" "" "0000983046" "0" "50" "18" "43445664" "43445664" "subst" "0" "01804" "EPG5_000198" "g.43445664C>T" "" "" "" "EPG5(NM_020964.3):c.6682G>A (p.(Glu2228Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983047" "0" "30" "18" "43508880" "43508880" "subst" "2.43839E-5" "01804" "EPG5_000199" "g.43508880G>A" "" "" "" "EPG5(NM_020964.3):c.2508C>T (p.(Ser836=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004121" "0" "50" "18" "43438592" "43438592" "subst" "0.000609385" "01804" "EPG5_000200" "g.43438592A>C" "" "" "" "EPG5(NM_020964.2):c.7165T>G (p.(Leu2389Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004122" "0" "50" "18" "43440193" "43440193" "subst" "0" "01804" "EPG5_000053" "g.43440193C>G" "" "" "" "EPG5(NM_020964.2):c.6885G>C (p.(Trp2295Cys)), EPG5(NM_020964.3):c.6885G>C (p.W2295C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004123" "0" "50" "18" "43462450" "43462450" "subst" "4.25778E-6" "01804" "EPG5_000201" "g.43462450G>T" "" "" "" "EPG5(NM_020964.2):c.5307C>A (p.(Phe1769Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004124" "0" "70" "18" "43480959" "43480959" "subst" "4.07817E-6" "01804" "EPG5_000202" "g.43480959A>G" "" "" "" "EPG5(NM_020964.2):c.4646+2T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001004125" "0" "30" "18" "43496165" "43496165" "subst" "0.000801617" "01804" "EPG5_000157" "g.43496165T>C" "" "" "" "EPG5(NM_020964.2):c.3391A>G (p.(Ile1131Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004126" "0" "30" "18" "43514845" "43514845" "subst" "4.46875E-5" "01804" "EPG5_000203" "g.43514845C>G" "" "" "" "EPG5(NM_020964.2):c.2187G>C (p.(Gln729His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015701" "0" "50" "18" "43487994" "43487994" "subst" "6.03199E-5" "02325" "EPG5_000204" "g.43487994C>T" "" "" "" "EPG5(NM_020964.3):c.4258G>A (p.D1420N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015702" "0" "50" "18" "43496474" "43496474" "subst" "7.71849E-5" "02325" "EPG5_000205" "g.43496474G>A" "" "" "" "EPG5(NM_020964.3):c.3313C>T (p.H1105Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001017941" "0" "30" "18" "43490652" "43490652" "subst" "0.00436871" "03779" "EPG5_000025" "g.43490652T>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs144860976" "0" "" "" "" "" "likely benign" "" "0001046701" "0" "90" "18" "43437927" "43437927" "subst" "4.06583E-6" "02325" "EPG5_000206" "g.43437927G>A" "" "" "" "EPG5(NM_020964.3):c.7333C>T (p.R2445*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046702" "0" "90" "18" "43437983" "43437983" "dup" "0" "02325" "EPG5_000207" "g.43437983dup" "" "" "" "EPG5(NM_020964.3):c.7277dupA (p.L2427Afs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046703" "0" "90" "18" "43480987" "43480987" "del" "0" "02325" "EPG5_000208" "g.43480987del" "" "" "" "EPG5(NM_020964.3):c.4621delC (p.L1541*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046704" "0" "50" "18" "43502403" "43502403" "subst" "2.84282E-5" "02325" "EPG5_000209" "g.43502403G>A" "" "" "" "EPG5(NM_020964.3):c.3002C>T (p.T1001I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001048369" "3" "90" "18" "43535179" "43535179" "del" "0" "04901" "EPG5_000210" "g.43535179del" "" "" "" "" "variant absent from the in-house exome data of 400 unrelated, ethnically matched individuals" "Germline" "yes" "" "0" "" "" "g.45955213del" "" "pathogenic (recessive)" "ACMG" "0001056326" "0" "50" "18" "43459134" "43459134" "subst" "4.0655E-6" "01804" "EPG5_000211" "g.43459134G>A" "" "" "" "EPG5(NM_020964.3):c.5713C>T (p.(Arg1905Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056327" "0" "50" "18" "43467855" "43467855" "subst" "0" "01804" "EPG5_000212" "g.43467855T>C" "" "" "" "EPG5(NM_020964.3):c.4970A>G (p.(Tyr1657Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056328" "0" "50" "18" "43505712" "43505712" "subst" "4.10193E-5" "01804" "EPG5_000213" "g.43505712C>T" "" "" "" "EPG5(NM_020964.3):c.2710G>A (p.(Ala904Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058653" "0" "90" "18" "43495474" "43495477" "del" "0" "00006" "EPG5_000215" "g.43495474_43495477del" "" "{PMID:Retterer 2016:26633542}" "" "3693+2_3693+5delTAGG" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.45915509_45915512del" "" "pathogenic" "" "0001058654" "0" "90" "18" "43505706" "43505706" "subst" "3.10122E-5" "00006" "EPG5_000216" "g.43505706G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.45925740G>A" "" "pathogenic" "" "0001058655" "0" "70" "18" "43484074" "43484074" "subst" "2.06233E-5" "00006" "EPG5_000214" "g.43484074C>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.45904109C>A" "" "likely pathogenic" "" ## 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 EPG5 ## Count = 259 "{{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}}" "0000079584" "00007152" "00" "6350" "0" "6350" "0" "c.6350T>C" "r.(?)" "p.(Ile2117Thr)" "" "0000130029" "00007152" "70" "984" "0" "984" "0" "c.984dup" "r.(?)" "p.(Lys329*)" "" "0000250717" "00007152" "10" "6622" "-7" "6622" "-7" "c.6622-7del" "r.(=)" "p.(=)" "" "0000253069" "00007152" "10" "6622" "-7" "6622" "-7" "c.6622-7del" "r.(=)" "p.(=)" "" "0000253620" "00007152" "10" "2911" "0" "2911" "0" "c.2911T>G" "r.(?)" "p.(Leu971Val)" "" "0000254318" "00007152" "30" "2964" "0" "2964" "0" "c.2964T>C" "r.(?)" "p.(Cys988=)" "" "0000254430" "00007152" "30" "1011" "0" "1011" "0" "c.1011T>G" "r.(?)" "p.(Gly337=)" "" "0000255143" "00007152" "30" "2189" "0" "2189" "0" "c.2189T>C" "r.(?)" "p.(Val730Ala)" "" "0000256473" "00007152" "50" "3622" "0" "3622" "0" "c.3622T>C" "r.(?)" "p.(Ser1208Pro)" "" "0000267849" "00007152" "70" "5869" "1" "5869" "1" "c.5869+1G>A" "r.spl?" "p.?" "" "0000276186" "00007152" "10" "104" "0" "104" "0" "c.104G>A" "r.(?)" "p.(Ser35Asn)" "" "0000276187" "00007152" "50" "2176" "0" "2176" "0" "c.2176C>T" "r.(?)" "p.(Leu726Phe)" "" "0000276188" "00007152" "10" "3493" "0" "3493" "0" "c.3493A>G" "r.(?)" "p.(Ile1165Val)" "" "0000276189" "00007152" "30" "4039" "0" "4039" "0" "c.4039A>C" "r.(?)" "p.(Asn1347His)" "" "0000276190" "00007152" "30" "4502" "0" "4502" "0" "c.4502G>A" "r.(?)" "p.(Arg1501Gln)" "" "0000276191" "00007152" "50" "4988" "0" "4988" "0" "c.4988C>T" "r.(?)" "p.(Pro1663Leu)" "" "0000276192" "00007152" "30" "5146" "0" "5146" "0" "c.5146G>A" "r.(?)" "p.(Val1716Ile)" "" "0000276193" "00007152" "30" "5583" "0" "5583" "0" "c.5583C>T" "r.(?)" "p.(Cys1861=)" "" "0000276194" "00007152" "30" "5584" "0" "5584" "0" "c.5584G>T" "r.(?)" "p.(Ala1862Ser)" "" "0000276195" "00007152" "30" "5725" "0" "5725" "0" "c.5725A>T" "r.(?)" "p.(Met1909Leu)" "" "0000276196" "00007152" "30" "6147" "0" "6147" "0" "c.6147C>T" "r.(?)" "p.(Tyr2049=)" "" "0000276197" "00007152" "50" "6215" "0" "6215" "0" "c.6215C>G" "r.(?)" "p.(Ala2072Gly)" "" "0000276198" "00007152" "30" "6341" "0" "6341" "0" "c.6341G>A" "r.(?)" "p.(Arg2114His)" "" "0000276199" "00007152" "50" "6403" "0" "6403" "0" "c.6403G>A" "r.(?)" "p.(Asp2135Asn)" "" "0000276201" "00007152" "30" "740" "0" "740" "0" "c.740C>T" "r.(?)" "p.(Pro247Leu)" "" "0000276202" "00007152" "50" "7541" "0" "7541" "0" "c.7541C>T" "r.(?)" "p.(Thr2514Ile)" "" "0000325883" "00007152" "50" "7260" "0" "7260" "0" "c.7260G>T" "r.(?)" "p.(Trp2420Cys)" "" "0000325884" "00007152" "30" "6622" "-7" "6622" "-7" "c.6622-7dup" "r.(=)" "p.(=)" "" "0000325887" "00007152" "50" "5631" "0" "5631" "0" "c.5631del" "r.(?)" "p.(Ser1879AlafsTer12)" "" "0000325888" "00007152" "50" "5584" "0" "5584" "0" "c.5584G>A" "r.(?)" "p.(Ala1862Thr)" "" "0000325889" "00007152" "50" "5519" "-2" "5519" "-2" "c.5519-2dup" "r.spl?" "p.?" "" "0000325890" "00007152" "10" "4039" "0" "4039" "0" "c.4039A>C" "r.(?)" "p.(Asn1347His)" "" "0000325891" "00007152" "50" "3965" "0" "3965" "0" "c.3965G>A" "r.(?)" "p.(Arg1322His)" "" "0000325892" "00007152" "50" "2911" "0" "2911" "0" "c.2911T>G" "r.(?)" "p.(Leu971Val)" "" "0000325893" "00007152" "50" "2690" "0" "2690" "0" "c.2690A>G" "r.(?)" "p.(Glu897Gly)" "" "0000325894" "00007152" "50" "2259" "0" "2259" "0" "c.2259C>T" "r.(?)" "p.(Asp753=)" "" "0000325896" "00007152" "50" "199" "0" "199" "0" "c.199C>G" "r.(?)" "p.(Gln67Glu)" "" "0000325897" "00007152" "50" "104" "0" "104" "0" "c.104G>A" "r.(?)" "p.(Ser35Asn)" "" "0000340075" "00007152" "10" "4089" "0" "4089" "0" "c.4089C>T" "r.(?)" "p.(His1363=)" "" "0000341184" "00007152" "10" "4532" "0" "4532" "0" "c.4532C>T" "r.(?)" "p.(Ala1511Val)" "" "0000342216" "00007152" "90" "6232" "0" "6232" "0" "c.6232C>T" "r.(?)" "p.(Arg2078Ter)" "" "0000345571" "00007152" "10" "2532" "0" "2532" "0" "c.2532G>C" "r.(?)" "p.(Glu844Asp)" "" "0000347450" "00007152" "10" "544" "0" "544" "0" "c.544A>G" "r.(?)" "p.(Lys182Glu)" "" "0000348005" "00007152" "50" "7475" "0" "7475" "0" "c.7475T>G" "r.(?)" "p.(Phe2492Cys)" "" "0000348650" "00007152" "10" "3248" "0" "3248" "0" "c.3248C>T" "r.(?)" "p.(Ser1083Leu)" "" "0000350237" "00007152" "10" "3173" "0" "3173" "0" "c.3173T>C" "r.(?)" "p.(Val1058Ala)" "" "0000351194" "00007152" "70" "5869" "1" "5869" "1" "c.5869+1G>A" "r.spl?" "p.?" "" "0000369316" "00007152" "70" "4952" "1" "4952" "1" "c.4952+1G>A" "r.spl" "p.?" "" "0000564790" "00007152" "30" "7621" "0" "7621" "0" "c.7621T>C" "r.(?)" "p.(Leu2541=)" "" "0000564791" "00007152" "30" "7557" "15" "7557" "15" "c.7557+15T>C" "r.(=)" "p.(=)" "" "0000564792" "00007152" "50" "6885" "0" "6885" "0" "c.6885G>C" "r.(?)" "p.(Trp2295Cys)" "" "0000564793" "00007152" "30" "6855" "0" "6855" "0" "c.6855A>T" "r.(?)" "p.(Ala2285=)" "" "0000564794" "00007152" "50" "6839" "0" "6839" "0" "c.6839C>T" "r.(?)" "p.(Ala2280Val)" "" "0000564795" "00007152" "50" "6787" "0" "6787" "0" "c.6787C>G" "r.(?)" "p.(His2263Asp)" "" "0000564796" "00007152" "50" "6785" "0" "6785" "0" "c.6785G>T" "r.(?)" "p.(Arg2262Leu)" "" "0000564799" "00007152" "30" "6622" "-8" "6622" "-7" "c.6622-8_6622-7del" "r.(=)" "p.(=)" "" "0000564800" "00007152" "10" "6622" "-7" "6622" "-7" "c.6622-7del" "r.(=)" "p.(=)" "" "0000564801" "00007152" "30" "6622" "-7" "6622" "-7" "c.6622-7dup" "r.(=)" "p.(=)" "" "0000564802" "00007152" "30" "6622" "-7" "6622" "-7" "c.6622-7dup" "r.(=)" "p.(=)" "" "0000564803" "00007152" "10" "6621" "29" "6621" "29" "c.6621+29A>G" "r.(=)" "p.(=)" "" "0000564805" "00007152" "30" "6009" "0" "6009" "0" "c.6009G>A" "r.(?)" "p.(Leu2003=)" "" "0000564807" "00007152" "50" "5981" "0" "5981" "0" "c.5981C>T" "r.(?)" "p.(Thr1994Ile)" "" "0000564808" "00007152" "30" "5954" "0" "5954" "0" "c.5954G>A" "r.(?)" "p.(Arg1985Gln)" "" "0000564809" "00007152" "30" "5869" "18" "5869" "18" "c.5869+18C>T" "r.(=)" "p.(=)" "" "0000564810" "00007152" "10" "5591" "0" "5591" "0" "c.5591G>A" "r.(?)" "p.(Ser1864Asn)" "" "0000564812" "00007152" "10" "5584" "0" "5584" "0" "c.5584G>A" "r.(?)" "p.(Ala1862Thr)" "" "0000564813" "00007152" "30" "5545" "0" "5545" "0" "c.5545G>A" "r.(?)" "p.(Glu1849Lys)" "" "0000564814" "00007152" "30" "5328" "0" "5328" "0" "c.5328C>T" "r.(?)" "p.(Ser1776=)" "" "0000564815" "00007152" "30" "5070" "0" "5070" "0" "c.5070A>G" "r.(?)" "p.(Thr1690=)" "" "0000564816" "00007152" "30" "5052" "0" "5052" "0" "c.5052G>A" "r.(?)" "p.(Thr1684=)" "" "0000564817" "00007152" "50" "5052" "0" "5052" "0" "c.5052G>A" "r.(?)" "p.(Thr1684=)" "" "0000564819" "00007152" "90" "4862" "0" "4862" "0" "c.4862G>A" "r.(?)" "p.(Arg1621Gln)" "" "0000564820" "00007152" "50" "4824" "0" "4825" "0" "c.4824_4825insTA" "r.(?)" "p.(Lys1609Ter)" "" "0000564821" "00007152" "50" "4823" "0" "4823" "0" "c.4823A>C" "r.(?)" "p.(His1608Pro)" "" "0000564822" "00007152" "30" "4791" "0" "4791" "0" "c.4791C>T" "r.(?)" "p.(Ala1597=)" "" "0000564824" "00007152" "50" "4584" "0" "4584" "0" "c.4584G>C" "r.(?)" "p.(Leu1528Phe)" "" "0000564825" "00007152" "30" "4152" "0" "4152" "0" "c.4152C>G" "r.(?)" "p.(His1384Gln)" "" "0000564826" "00007152" "30" "4134" "0" "4134" "0" "c.4134A>G" "r.(?)" "p.(Glu1378=)" "" "0000564827" "00007152" "50" "3965" "0" "3965" "0" "c.3965G>A" "r.(?)" "p.(Arg1322His)" "" "0000564828" "00007152" "90" "3481" "0" "3481" "0" "c.3481C>T" "r.(?)" "p.(Arg1161Ter)" "" "0000564829" "00007152" "50" "3446" "0" "3446" "0" "c.3446G>T" "r.(?)" "p.(Trp1149Leu)" "" "0000564830" "00007152" "50" "3280" "0" "3280" "0" "c.3280G>A" "r.(?)" "p.(Gly1094Ser)" "" "0000564831" "00007152" "10" "3248" "0" "3248" "0" "c.3248C>T" "r.(?)" "p.(Ser1083Leu)" "" "0000564832" "00007152" "30" "3240" "-16" "3240" "-16" "c.3240-16C>T" "r.(=)" "p.(=)" "" "0000564833" "00007152" "50" "2690" "0" "2690" "0" "c.2690A>G" "r.(?)" "p.(Glu897Gly)" "" "0000564834" "00007152" "30" "2553" "35" "2553" "35" "c.2553+35C>T" "r.(=)" "p.(=)" "" "0000564835" "00007152" "30" "2413" "-7" "2413" "-7" "c.2413-7dup" "r.(=)" "p.(=)" "" "0000564836" "00007152" "30" "2259" "0" "2259" "0" "c.2259C>T" "r.(?)" "p.(Asp753=)" "" "0000564837" "00007152" "10" "2063" "0" "2063" "0" "c.2063T>C" "r.(?)" "p.(Phe688Ser)" "" "0000564838" "00007152" "30" "2063" "0" "2063" "0" "c.2063T>C" "r.(?)" "p.(Phe688Ser)" "" "0000564839" "00007152" "30" "2019" "0" "2019" "0" "c.2019G>T" "r.(?)" "p.(Gln673His)" "" "0000564840" "00007152" "30" "2006" "0" "2006" "0" "c.2006G>A" "r.(?)" "p.(Gly669Glu)" "" "0000564841" "00007152" "50" "1948" "0" "1948" "0" "c.1948A>G" "r.(?)" "p.(Thr650Ala)" "" "0000564842" "00007152" "30" "1867" "0" "1867" "0" "c.1867C>A" "r.(?)" "p.(Leu623Ile)" "" "0000564843" "00007152" "50" "1830" "0" "1830" "0" "c.1830G>A" "r.(?)" "p.(Met610Ile)" "" "0000564845" "00007152" "10" "1793" "-35" "1793" "-35" "c.1793-35C>T" "r.(=)" "p.(=)" "" "0000564846" "00007152" "30" "1766" "0" "1766" "0" "c.1766A>G" "r.(?)" "p.(Gln589Arg)" "" "0000564847" "00007152" "30" "1571" "7" "1571" "7" "c.1571+7G>A" "r.(=)" "p.(=)" "" "0000564848" "00007152" "10" "1461" "0" "1461" "0" "c.1461C>T" "r.(?)" "p.(Pro487=)" "" "0000564849" "00007152" "50" "1457" "0" "1457" "0" "c.1457G>T" "r.(?)" "p.(Cys486Phe)" "" "0000564850" "00007152" "90" "1453" "0" "1453" "0" "c.1453C>T" "r.(?)" "p.(Arg485Ter)" "" "0000564851" "00007152" "10" "1271" "0" "1271" "0" "c.1271G>A" "r.(?)" "p.(Ser424Asn)" "" "0000564852" "00007152" "10" "1271" "0" "1271" "0" "c.1271G>A" "r.(?)" "p.(Ser424Asn)" "" "0000564853" "00007152" "30" "1271" "0" "1271" "0" "c.1271G>A" "r.(?)" "p.(Ser424Asn)" "" "0000564854" "00007152" "10" "1271" "0" "1271" "0" "c.1271G>A" "r.(?)" "p.(Ser424Asn)" "" "0000564855" "00007152" "30" "1253" "-37" "1253" "-37" "c.1253-37A>G" "r.(=)" "p.(=)" "" "0000564856" "00007152" "30" "1017" "0" "1017" "0" "c.1017T>C" "r.(?)" "p.(Cys339=)" "" "0000564857" "00007152" "30" "1009" "-10" "1009" "-9" "c.1009-10_1009-9dup" "r.(=)" "p.(=)" "" "0000564858" "00007152" "30" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Ser267Leu)" "" "0000564859" "00007152" "30" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Ser267Leu)" "" "0000564860" "00007152" "30" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Ile)" "" "0000564861" "00007152" "30" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "" "0000617158" "00007152" "30" "6187" "0" "6187" "0" "c.6187C>T" "r.(?)" "p.(Leu2063=)" "" "0000617159" "00007152" "50" "4862" "0" "4862" "0" "c.4862G>A" "r.(?)" "p.(Arg1621Gln)" "" "0000617160" "00007152" "30" "4544" "0" "4544" "0" "c.4544C>T" "r.(?)" "p.(Thr1515Met)" "" "0000617161" "00007152" "30" "4209" "0" "4209" "0" "c.4209C>T" "r.(?)" "p.(Leu1403=)" "" "0000617162" "00007152" "10" "3279" "0" "3279" "0" "c.3279C>T" "r.(?)" "p.(Ser1093=)" "" "0000617163" "00007152" "50" "2718" "3" "2718" "3" "c.2718+3A>G" "r.spl?" "p.?" "" "0000617164" "00007152" "30" "2619" "0" "2619" "0" "c.2619G>A" "r.(?)" "p.(Ala873=)" "" "0000617165" "00007152" "30" "2233" "0" "2233" "0" "c.2233G>A" "r.(?)" "p.(Ala745Thr)" "" "0000617166" "00007152" "50" "968" "0" "968" "0" "c.968G>T" "r.(?)" "p.(Ser323Ile)" "" "0000617167" "00007152" "30" "708" "0" "708" "0" "c.708G>A" "r.(?)" "p.(Leu236=)" "" "0000617168" "00007152" "30" "407" "0" "407" "0" "c.407A>G" "r.(?)" "p.(Lys136Arg)" "" "0000617169" "00007152" "30" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Ile)" "" "0000617170" "00007152" "30" "33" "0" "33" "0" "c.33C>G" "r.(?)" "p.(Ala11=)" "" "0000623847" "00007152" "50" "6068" "0" "6068" "0" "c.6068A>T" "r.(?)" "p.(Asp2023Val)" "" "0000623848" "00007152" "30" "5610" "0" "5610" "0" "c.5610G>A" "r.(?)" "p.(Ala1870=)" "" "0000623850" "00007152" "30" "3538" "0" "3538" "0" "c.3538A>G" "r.(?)" "p.(Met1180Val)" "" "0000623851" "00007152" "50" "2998" "0" "2998" "0" "c.2998A>G" "r.(?)" "p.(Met1000Val)" "" "0000623852" "00007152" "30" "255" "0" "255" "0" "c.255C>T" "r.(?)" "p.(Leu85=)" "" "0000649814" "00007152" "10" "7558" "-11" "7558" "-11" "c.7558-11G>A" "r.(=)" "p.(=)" "" "0000649815" "00007152" "10" "3279" "0" "3279" "0" "c.3279C>T" "r.(=)" "p.(=)" "" "0000649817" "00007152" "10" "740" "0" "740" "0" "c.740C>T" "r.(?)" "p.(Pro247Leu)" "" "0000658378" "00007152" "30" "6730" "0" "6730" "0" "c.6730A>G" "r.(?)" "p.(Lys2244Glu)" "" "0000658379" "00007152" "30" "6350" "0" "6350" "0" "c.6350T>C" "r.(?)" "p.(Ile2117Thr)" "" "0000658380" "00007152" "30" "6162" "0" "6162" "0" "c.6162G>A" "r.(?)" "p.(Thr2054=)" "" "0000658381" "00007152" "50" "4034" "0" "4034" "0" "c.4034A>G" "r.(?)" "p.(His1345Arg)" "" "0000658382" "00007152" "30" "3077" "0" "3077" "0" "c.3077C>G" "r.(?)" "p.(Ser1026Cys)" "" "0000658383" "00007152" "30" "2178" "0" "2178" "0" "c.2178C>A" "r.(?)" "p.(Leu726=)" "" "0000658384" "00007152" "30" "438" "0" "438" "0" "c.438G>A" "r.(?)" "p.(Ser146=)" "" "0000669442" "00007152" "10" "7558" "-11" "7558" "-11" "c.7558-11G>A" "r.(=)" "p.(=)" "" "0000669443" "00007152" "10" "740" "0" "740" "0" "c.740C>T" "r.(?)" "p.(Pro247Leu)" "" "0000681150" "00007152" "50" "7690" "0" "7690" "0" "c.7690C>G" "r.(?)" "p.(Leu2564Val)" "" "0000681151" "00007152" "30" "5616" "0" "5616" "0" "c.5616C>A" "r.(?)" "p.(Thr1872=)" "" "0000681152" "00007152" "50" "5602" "0" "5602" "0" "c.5602G>T" "r.(?)" "p.(Gly1868Trp)" "" "0000681153" "00007152" "30" "5307" "0" "5307" "0" "c.5307C>T" "r.(?)" "p.(Phe1769=)" "" "0000681154" "00007152" "30" "4581" "0" "4581" "0" "c.4581A>G" "r.(?)" "p.(Leu1527=)" "" "0000681155" "00007152" "30" "2426" "0" "2426" "0" "c.2426C>T" "r.(?)" "p.(Thr809Ile)" "" "0000681156" "00007152" "50" "2303" "0" "2303" "0" "c.2303A>G" "r.(?)" "p.(Asn768Ser)" "" "0000685190" "00007152" "90" "3447" "0" "3447" "0" "c.3447G>A" "r.(?)" "p.(Trp1149*)" "" "0000685191" "00007152" "70" "2609" "0" "2609" "0" "c.2609C>G" "r.(?)" "p.(Ser870Cys)" "" "0000692596" "00007152" "30" "7692" "0" "7692" "0" "c.7692C>T" "r.(?)" "p.(Leu2564=)" "" "0000692597" "00007152" "50" "6292" "0" "6292" "0" "c.6292G>T" "r.(?)" "p.(Val2098Phe)" "" "0000692598" "00007152" "30" "6050" "-20" "6050" "-20" "c.6050-20A>G" "r.(=)" "p.(=)" "" "0000692599" "00007152" "10" "5700" "0" "5700" "0" "c.5700T>C" "r.(?)" "p.(Phe1900=)" "" "0000692600" "00007152" "30" "4621" "0" "4621" "0" "c.4621C>T" "r.(?)" "p.(Leu1541=)" "" "0000692601" "00007152" "50" "4205" "0" "4205" "0" "c.4205G>A" "r.(?)" "p.(Arg1402Lys)" "" "0000692602" "00007152" "30" "3898" "0" "3898" "0" "c.3898G>A" "r.(?)" "p.(Val1300Ile)" "" "0000692603" "00007152" "30" "3385" "-4" "3385" "-4" "c.3385-4A>T" "r.spl?" "p.?" "" "0000692604" "00007152" "30" "1991" "0" "1991" "0" "c.1991A>C" "r.(?)" "p.(His664Pro)" "" "0000692605" "00007152" "50" "1795" "0" "1795" "0" "c.1795G>T" "r.(?)" "p.(Asp599Tyr)" "" "0000692606" "00007152" "30" "1613" "0" "1613" "0" "c.1613G>A" "r.(?)" "p.(Arg538Gln)" "" "0000726884" "00007152" "50" "971" "0" "971" "0" "c.971G>A" "r.(?)" "p.(Arg324Gln)" "" "0000726885" "00007152" "50" "761" "0" "761" "0" "c.761C>T" "r.(?)" "p.(Pro254Leu)" "" "0000726886" "00007152" "30" "246" "0" "246" "0" "c.246T>C" "r.(?)" "p.(Asp82=)" "" "0000726887" "00007152" "30" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "" "0000726888" "00007152" "30" "12" "0" "12" "0" "c.12G>T" "r.(?)" "p.(Ala4=)" "" "0000733990" "00007152" "50" "740" "0" "740" "0" "c.740C>T" "r.(?)" "p.(Pro247Leu)" "" "0000734024" "00007152" "50" "5618" "0" "5618" "0" "c.5618A>T" "r.(?)" "p.(Glu1873Val)" "" "0000734039" "00007152" "50" "740" "0" "740" "0" "c.740C>T" "r.(?)" "p.(Pro247Leu)" "" "0000734057" "00007152" "50" "3391" "0" "3391" "0" "c.3391A>G" "r.(?)" "p.(Ile1131Val)" "" "0000734154" "00007152" "50" "2374" "0" "2374" "0" "c.2374G>A" "r.(?)" "p.(Glu792Lys)" "" "0000734203" "00007152" "50" "3391" "0" "3391" "0" "c.3391A>G" "r.(?)" "p.(Ile1131Val)" "" "0000734232" "00007152" "50" "5618" "0" "5618" "0" "c.5618A>T" "r.(?)" "p.(Glu1873Val)" "" "0000734326" "00007152" "50" "6372" "0" "6372" "0" "c.6372G>A" "r.(?)" "p.(Met2124Ile)" "" "0000734436" "00007152" "50" "6372" "0" "6372" "0" "c.6372G>T" "r.(?)" "p.(Met2124Ile)" "" "0000734443" "00007152" "50" "2374" "0" "2374" "0" "c.2374G>A" "r.(?)" "p.(Glu792Lys)" "" "0000734454" "00007152" "50" "740" "0" "740" "0" "c.740C>T" "r.(?)" "p.(Pro247Leu)" "" "0000734455" "00007152" "50" "5308" "0" "5308" "0" "c.5308G>A" "r.(?)" "p.(Asp1770Asn)" "" "0000734585" "00007152" "50" "1609" "0" "1609" "0" "c.1609G>A" "r.(?)" "p.(Glu537Lys)" "" "0000734645" "00007152" "50" "6372" "0" "6372" "0" "c.6372G>T" "r.(?)" "p.(Met2124Ile)" "" "0000734651" "00007152" "50" "5618" "0" "5618" "0" "c.5618A>T" "r.(?)" "p.(Glu1873Val)" "" "0000734983" "00007152" "50" "3391" "0" "3391" "0" "c.3391A>G" "r.(?)" "p.(Ile1131Val)" "" "0000735005" "00007152" "50" "6372" "0" "6372" "0" "c.6372G>T" "r.(?)" "p.(Met2124Ile)" "" "0000735116" "00007152" "50" "1609" "0" "1609" "0" "c.1609G>A" "r.(?)" "p.(Glu537Lys)" "" "0000735123" "00007152" "50" "2301" "0" "2301" "0" "c.2301G>A" "r.(?)" "p.(Met767Ile)" "" "0000735146" "00007152" "50" "1609" "0" "1609" "0" "c.1609G>A" "r.(?)" "p.(Glu537Lys)" "" "0000735260" "00007152" "50" "5618" "0" "5618" "0" "c.5618A>T" "r.(?)" "p.(Glu1873Val)" "" "0000735511" "00007152" "50" "5990" "0" "5990" "0" "c.5990C>T" "r.(?)" "p.(Ala1997Val)" "" "0000808489" "00007152" "30" "6765" "0" "6765" "0" "c.6765C>T" "r.(?)" "p.(Pro2255=)" "" "0000808490" "00007152" "50" "6761" "0" "6761" "0" "c.6761C>T" "r.(?)" "p.(Pro2254Leu)" "" "0000808491" "00007152" "30" "6078" "0" "6078" "0" "c.6078C>A" "r.(?)" "p.(Ala2026=)" "" "0000808492" "00007152" "30" "4134" "0" "4134" "0" "c.4134A>G" "r.(?)" "p.(Glu1378=)" "" "0000808493" "00007152" "30" "3582" "9" "3582" "9" "c.3582+9C>T" "r.(=)" "p.(=)" "" "0000808494" "00007152" "50" "3512" "0" "3512" "0" "c.3512A>G" "r.(?)" "p.(His1171Arg)" "" "0000808495" "00007152" "50" "851" "0" "851" "0" "c.851A>G" "r.(?)" "p.(His284Arg)" "" "0000855304" "00007152" "30" "4766" "0" "4766" "0" "c.4766G>A" "r.(?)" "p.(Ser1589Asn)" "" "0000855305" "00007152" "30" "4593" "0" "4593" "0" "c.4593G>A" "r.(?)" "p.(Lys1531=)" "" "0000855306" "00007152" "90" "1924" "0" "1924" "0" "c.1924C>T" "r.(?)" "p.(Arg642*)" "" "0000855307" "00007152" "50" "1417" "0" "1417" "0" "c.1417C>T" "r.(?)" "p.(Pro473Ser)" "" "0000855308" "00007152" "30" "624" "0" "624" "0" "c.624G>A" "r.(?)" "p.(Gln208=)" "" "0000865687" "00007152" "70" "7010" "-3" "7010" "-3" "c.7010-3del" "r.spl?" "p.?" "" "0000865688" "00007152" "30" "6516" "0" "6516" "0" "c.6516C>T" "r.(?)" "p.(Tyr2172=)" "" "0000865689" "00007152" "30" "6321" "0" "6321" "0" "c.6321C>T" "r.(?)" "p.(Ser2107=)" "" "0000865690" "00007152" "30" "4205" "7" "4205" "7" "c.4205+7A>T" "r.(=)" "p.(=)" "" "0000865691" "00007152" "30" "3432" "0" "3432" "0" "c.3432T>C" "r.(?)" "p.(Ala1144=)" "" "0000865692" "00007152" "10" "3248" "0" "3248" "0" "c.3248C>T" "r.(?)" "p.(Ser1083Leu)" "" "0000865693" "00007152" "30" "3014" "0" "3014" "0" "c.3014C>T" "r.(?)" "p.(Thr1005Met)" "" "0000865694" "00007152" "30" "2958" "0" "2958" "0" "c.2958G>A" "r.(?)" "p.(Pro986=)" "" "0000865695" "00007152" "30" "2809" "0" "2809" "0" "c.2809G>T" "r.(?)" "p.(Ala937Ser)" "" "0000865696" "00007152" "30" "1418" "0" "1418" "0" "c.1418C>T" "r.(?)" "p.(Pro473Leu)" "" "0000865697" "00007152" "30" "1399" "0" "1399" "0" "c.1399C>T" "r.(?)" "p.(Leu467=)" "" "0000865698" "00007152" "30" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Gly196Ser)" "" "0000894566" "00007152" "30" "3984" "-20" "3984" "-20" "c.3984-20C>G" "r.(=)" "p.(=)" "" "0000894567" "00007152" "30" "3684" "0" "3684" "0" "c.3684G>A" "r.(?)" "p.(Thr1228=)" "" "0000894568" "00007152" "30" "2610" "0" "2610" "0" "c.2610T>G" "r.(?)" "p.(Ser870=)" "" "0000894569" "00007152" "30" "438" "0" "438" "0" "c.438G>A" "r.(?)" "p.(Ser146=)" "" "0000894570" "00007152" "30" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Ile)" "" "0000894571" "00007152" "30" "33" "0" "33" "0" "c.33C>G" "r.(?)" "p.(Ala11=)" "" "0000915060" "00007152" "10" "7557" "15" "7557" "15" "c.7557+15T>C" "r.(=)" "p.(=)" "" "0000915061" "00007152" "30" "6622" "-7" "6622" "-7" "c.6622-7del" "r.(=)" "p.(=)" "" "0000915062" "00007152" "30" "6622" "-7" "6622" "-7" "c.6622-7del" "r.(=)" "p.(=)" "" "0000915063" "00007152" "30" "5584" "0" "5584" "0" "c.5584G>A" "r.(?)" "p.(Ala1862Thr)" "" "0000915064" "00007152" "50" "5492" "0" "5492" "0" "c.5492G>A" "r.(?)" "p.(Ser1831Asn)" "" "0000915065" "00007152" "30" "5229" "0" "5229" "0" "c.5229C>T" "r.(?)" "p.(Phe1743=)" "" "0000915066" "00007152" "90" "3250" "0" "3251" "0" "c.3250_3251insTC" "r.(?)" "p.(His1084Leufs*29)" "" "0000915067" "00007152" "50" "1049" "0" "1049" "0" "c.1049G>T" "r.(?)" "p.(Arg350Leu)" "" "0000915068" "00007152" "10" "63" "15" "63" "15" "c.63+15del" "r.(=)" "p.(=)" "" "0000920285" "00007152" "50" "6112" "0" "6112" "0" "c.6112T>G" "r.(?)" "p.(Cys2038Gly)" "36" "0000920350" "00007152" "50" "6410" "0" "6410" "0" "c.6410C>G" "r.(?)" "p.(Thr2137Arg)" "37" "0000926744" "00007152" "30" "4544" "0" "4544" "0" "c.4544C>T" "r.(?)" "p.(Thr1515Met)" "" "0000926745" "00007152" "30" "3541" "0" "3541" "0" "c.3541C>G" "r.(?)" "p.(Gln1181Glu)" "" "0000930960" "00007152" "30" "7621" "0" "7621" "0" "c.7621T>C" "r.(?)" "p.(Leu2541=)" "" "0000951135" "00007152" "90" "7260" "0" "7260" "0" "c.7260G>A" "r.(?)" "p.(Trp2420*)" "" "0000951136" "00007152" "70" "5714" "0" "5714" "0" "c.5714G>A" "r.(?)" "p.(Arg1905Gln)" "" "0000951137" "00007152" "30" "1461" "0" "1461" "0" "c.1461C>T" "r.(?)" "p.(Pro487=)" "" "0000952370" "00007152" "50" "4891" "0" "4891" "0" "c.4891G>A" "r.(?)" "p.(Ala1631Thr)" "" "0000983046" "00007152" "50" "6682" "0" "6682" "0" "c.6682G>A" "r.(?)" "p.(Glu2228Lys)" "" "0000983047" "00007152" "30" "2508" "0" "2508" "0" "c.2508C>T" "r.(?)" "p.(=)" "" "0001004121" "00007152" "50" "7165" "0" "7165" "0" "c.7165T>G" "r.(?)" "p.(Leu2389Val)" "" "0001004122" "00007152" "50" "6885" "0" "6885" "0" "c.6885G>C" "r.(?)" "p.(Trp2295Cys)" "" "0001004123" "00007152" "50" "5307" "0" "5307" "0" "c.5307C>A" "r.(?)" "p.(Phe1769Leu)" "" "0001004124" "00007152" "70" "4646" "2" "4646" "2" "c.4646+2T>C" "r.spl?" "p.?" "" "0001004125" "00007152" "30" "3391" "0" "3391" "0" "c.3391A>G" "r.(?)" "p.(Ile1131Val)" "" "0001004126" "00007152" "30" "2187" "0" "2187" "0" "c.2187G>C" "r.(?)" "p.(Gln729His)" "" "0001015701" "00007152" "50" "4258" "0" "4258" "0" "c.4258G>A" "r.(?)" "p.(Asp1420Asn)" "" "0001015702" "00007152" "50" "3313" "0" "3313" "0" "c.3313C>T" "r.(?)" "p.(His1105Tyr)" "" "0001017941" "00007152" "30" "4039" "0" "4039" "0" "c.4039A>C" "r.(?)" "p.(Asn1347His)" "" "0001046701" "00007152" "90" "7333" "0" "7333" "0" "c.7333C>T" "r.(?)" "p.(Arg2445*)" "" "0001046702" "00007152" "90" "7277" "0" "7277" "0" "c.7277dup" "r.(?)" "p.(Leu2427Alafs*10)" "" "0001046703" "00007152" "90" "4621" "0" "4621" "0" "c.4621del" "r.(?)" "p.(Leu1541*)" "" "0001046704" "00007152" "50" "3002" "0" "3002" "0" "c.3002C>T" "r.(?)" "p.(Thr1001Ile)" "" "0001048369" "00007152" "90" "190" "0" "190" "0" "c.190del" "r.(190del)" "p.(Thr64LeufsTer25)" "" "0001056326" "00007152" "50" "5713" "0" "5713" "0" "c.5713C>T" "r.(?)" "p.(Arg1905Trp)" "" "0001056327" "00007152" "50" "4970" "0" "4970" "0" "c.4970A>G" "r.(?)" "p.(Tyr1657Cys)" "" "0001056328" "00007152" "50" "2710" "0" "2710" "0" "c.2710G>A" "r.(?)" "p.(Ala904Thr)" "" "0001058653" "00007152" "90" "3693" "2" "3693" "5" "c.3693+2_3693+5del" "r.spl" "p.?" "" "0001058654" "00007152" "90" "2716" "0" "2716" "0" "c.2716C>T" "r.(?)" "p.(Gln906Ter)" "" "0001058655" "00007152" "70" "4338" "0" "4338" "0" "c.4338G>T" "r.(?)" "p.(Trp1446Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 39 "{{screeningid}}" "{{variantid}}" "0000050604" "0000079584" "0000080943" "0000130029" "0000165591" "0000369316" "0000293125" "0000649814" "0000293126" "0000649815" "0000293128" "0000649817" "0000305754" "0000669442" "0000305755" "0000669443" "0000310279" "0000685190" "0000310280" "0000685191" "0000335529" "0000733990" "0000335539" "0000734024" "0000335544" "0000734039" "0000335549" "0000734057" "0000335580" "0000734154" "0000335596" "0000734203" "0000335601" "0000734232" "0000335635" "0000734326" "0000335708" "0000734436" "0000335710" "0000734443" "0000335712" "0000734454" "0000335712" "0000734455" "0000335755" "0000734585" "0000335771" "0000734645" "0000335773" "0000734651" "0000336071" "0000734983" "0000336076" "0000735005" "0000336098" "0000735116" "0000336100" "0000735123" "0000336108" "0000735146" "0000336156" "0000735260" "0000336266" "0000735511" "0000434531" "0000920285" "0000434531" "0000920350" "0000445378" "0000952370" "0000468522" "0001048369" "0000470531" "0001058653" "0000470532" "0001058654" "0000470533" "0001058655"