### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NAGPA) # 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}}" "NAGPA" "N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase" "16" "p13.3" "no" "NG_028152.1" "UD_132118836924" "" "http://www.LOVD.nl/NAGPA" "" "1" "17378" "51172" "607985" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/NAGPA_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2014-12-19 16:06:51" "00000" "2020-07-09 12:01:30" ## 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}}" "00014260" "NAGPA" "N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase" "001" "NM_016256.3" "" "NP_057340.2" "" "" "" "-27" "2182" "1548" "5083942" "5074845" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04160" "STUT1" "stuttering, familial, persistent, type 1 (STUT-1)" "AD" "184450" "" "" "" "00006" "2014-12-19 16:16:42" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 27 "{{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}}" "00028886" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028887" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028888" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028889" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028890" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028891" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028892" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028893" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028894" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028895" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028896" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028897" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028898" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028899" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028900" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028901" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028902" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028903" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028904" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028905" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028906" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028907" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028908" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028909" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028910" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00028911" "" "" "" "1" "" "01178" "" "" "" "" "" "" "0" "" "" "" "" "00291484" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 27 "{{individualid}}" "{{diseaseid}}" "00028886" "04160" "00028887" "04160" "00028888" "04160" "00028889" "04160" "00028890" "04160" "00028891" "04160" "00028892" "04160" "00028893" "04160" "00028894" "04160" "00028895" "04160" "00028896" "04160" "00028897" "04160" "00028898" "04160" "00028899" "04160" "00028900" "04160" "00028901" "04160" "00028902" "04160" "00028903" "04160" "00028904" "04160" "00028905" "04160" "00028906" "04160" "00028907" "04160" "00028908" "04160" "00028909" "04160" "00028910" "04160" "00028911" "04160" "00291484" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04160 ## Count = 26 "{{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}}" "0000024956" "04160" "00028886" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024957" "04160" "00028887" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024958" "04160" "00028888" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024959" "04160" "00028889" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024960" "04160" "00028890" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024961" "04160" "00028891" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024962" "04160" "00028892" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024963" "04160" "00028893" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024964" "04160" "00028894" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024965" "04160" "00028895" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024966" "04160" "00028896" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024967" "04160" "00028897" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024968" "04160" "00028898" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024969" "04160" "00028899" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024970" "04160" "00028900" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024971" "04160" "00028901" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024972" "04160" "00028902" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024973" "04160" "00028903" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024974" "04160" "00028904" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024975" "04160" "00028905" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024976" "04160" "00028906" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024977" "04160" "00028907" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024978" "04160" "00028908" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024979" "04160" "00028909" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024980" "04160" "00028910" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000024981" "04160" "00028911" "01178" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 27 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000028916" "00028886" "1" "01178" "01178" "2014-12-19 20:11:47" "00006" "2014-12-23 12:43:34" "SEQ" "DNA" "" "" "0000028917" "00028887" "1" "01178" "01178" "2014-12-19 20:41:47" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028918" "00028888" "1" "01178" "01178" "2014-12-19 20:55:53" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028919" "00028889" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028920" "00028890" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028921" "00028891" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028922" "00028892" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028923" "00028893" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028924" "00028894" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028925" "00028895" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028926" "00028896" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028927" "00028897" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028928" "00028898" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028929" "00028899" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028930" "00028900" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028931" "00028901" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028932" "00028902" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028933" "00028903" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028934" "00028904" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028935" "00028905" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028936" "00028906" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028937" "00028907" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028938" "00028908" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028939" "00028909" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028940" "00028910" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000028941" "00028911" "1" "01178" "01178" "2014-12-19 21:29:55" "00006" "2015-01-04 12:00:00" "SEQ" "DNA" "" "" "0000292652" "00291484" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{geneid}}" "0000028916" "NAGPA" "0000028917" "NAGPA" "0000028918" "NAGPA" "0000028919" "NAGPA" "0000028920" "NAGPA" "0000028921" "NAGPA" "0000028922" "NAGPA" "0000028923" "NAGPA" "0000028924" "NAGPA" "0000028925" "NAGPA" "0000028926" "NAGPA" "0000028927" "NAGPA" "0000028928" "NAGPA" "0000028929" "NAGPA" "0000028930" "NAGPA" "0000028931" "NAGPA" "0000028932" "NAGPA" "0000028933" "NAGPA" "0000028934" "NAGPA" "0000028935" "NAGPA" "0000028936" "NAGPA" "0000028937" "NAGPA" "0000028938" "NAGPA" "0000028939" "NAGPA" "0000028940" "NAGPA" "0000028941" "NAGPA" ## 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 = 27 "{{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}}" "0000052204" "0" "50" "16" "5083685" "5083685" "subst" "0.000395946" "01178" "NAGPA_000001" "g.5083685C>G" "" "" "" "" "" "Germline" "" "rs374266430" "0" "" "" "g.5033684C>G" "" "VUS" "" "0000052205" "0" "70" "16" "5083680" "5083680" "subst" "0" "01178" "NAGPA_000003" "g.5083680G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.5033679G>A" "" "likely pathogenic" "" "0000052206" "0" "50" "16" "5083596" "5083596" "subst" "2.91177E-5" "01178" "NAGPA_000002" "g.5083596C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.5033595C>G" "" "VUS" "" "0000052207" "0" "50" "16" "5083580" "5083580" "subst" "0.000218945" "01178" "NAGPA_000004" "g.5083580C>T" "" "" "" "" "" "Germline" "" "rs373128375" "0" "" "" "g.5033579C>T" "" "VUS" "" "0000052208" "0" "50" "16" "5083564" "5083564" "subst" "0.000164838" "01178" "NAGPA_000005" "g.5083564G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.5033563G>C" "" "VUS" "" "0000052209" "0" "50" "16" "5083559" "5083559" "subst" "0.00109031" "01178" "NAGPA_000006" "g.5083559C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.5033558C>T" "" "VUS" "" "0000052210" "0" "50" "16" "5083517" "5083517" "subst" "0.000139951" "01178" "NAGPA_000007" "g.5083517G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.5033516G>A" "" "VUS" "" "0000052211" "0" "50" "16" "5081866" "5081866" "subst" "1.62426E-5" "01178" "NAGPA_000008" "g.5081866C>T" "" "" "" "" "" "Germline" "" "rs138721187" "0" "" "" "g.5031865C>T" "" "VUS" "" "0000052212" "0" "50" "16" "5081837" "5081837" "subst" "0.000292372" "01178" "NAGPA_000009" "g.5081837C>G" "" "" "" "" "" "Germline" "" "rs146071322" "0" "" "" "g.5031836C>G" "" "VUS" "" "0000052213" "0" "50" "16" "5081787" "5081787" "subst" "0.000272086" "01178" "NAGPA_000010" "g.5081787T>C" "" "" "" "" "" "Germline" "" "rs140529374" "0" "" "" "g.5031786T>C" "" "VUS" "" "0000052214" "0" "50" "16" "5081761" "5081761" "subst" "0.000129947" "01178" "NAGPA_000011" "g.5081761C>T" "" "" "" "" "" "Germline" "" "rs143077001" "0" "" "" "g.5031760C>T" "" "VUS" "" "0000052215" "0" "50" "16" "5081752" "5081752" "subst" "8.12176E-5" "01178" "NAGPA_000012" "g.5081752C>G" "" "" "" "" "" "Germline" "" "rs200736428" "0" "" "" "g.5031751C>G" "" "VUS" "" "0000052216" "0" "50" "16" "5080392" "5080392" "subst" "0" "01178" "NAGPA_000013" "g.5080392T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.5030391T>C" "" "VUS" "" "0000052217" "0" "50" "16" "5078950" "5078950" "subst" "0" "01178" "NAGPA_000014" "g.5078950T>G" "" "" "" "" "" "Germline" "" "rs139565850" "0" "" "" "g.5028949T>G" "" "VUS" "" "0000052218" "0" "50" "16" "5078160" "5078160" "subst" "0" "01178" "NAGPA_000015" "g.5078160C>T" "" "" "" "" "" "Germline" "" "rs201325687" "0" "" "" "g.5028159C>T" "" "VUS" "" "0000052219" "0" "50" "16" "5078125" "5078125" "subst" "0.00103114" "01178" "NAGPA_000016" "g.5078125G>A" "" "" "" "" "" "Germline" "" "rs139526942" "0" "" "" "g.5028124G>A" "" "VUS" "" "0000052220" "0" "50" "16" "5077892" "5077892" "subst" "1.96839E-5" "01178" "NAGPA_000017" "g.5077892C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.5027891C>T" "" "VUS" "" "0000052221" "0" "50" "16" "5077368" "5077368" "subst" "0" "01178" "NAGPA_000018" "g.5077368C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.5027367C>G" "" "VUS" "" "0000052222" "0" "50" "16" "5077346" "5077346" "subst" "1.6251E-5" "01178" "NAGPA_000019" "g.5077346C>G" "" "" "" "" "" "Germline" "" "rs141084182" "0" "" "" "g.5027345C>G" "" "VUS" "" "0000052223" "0" "50" "16" "5077312" "5077312" "subst" "8.12189E-6" "01178" "NAGPA_000020" "g.5077312C>G" "" "" "" "" "" "Germline" "" "rs147782887" "0" "" "" "g.5027311C>G" "" "VUS" "" "0000052224" "0" "50" "16" "5077291" "5077291" "subst" "9.34018E-5" "01178" "NAGPA_000021" "g.5077291T>A" "" "" "" "" "" "Germline" "" "rs367664804" "0" "" "" "g.5027290T>A" "" "VUS" "" "0000052225" "0" "50" "16" "5077157" "5077157" "subst" "0.00084871" "01178" "NAGPA_000022" "g.5077157C>G" "" "" "" "" "" "Germline" "" "rs149923128" "0" "" "" "g.5027156C>G" "" "VUS" "" "0000052226" "0" "50" "16" "5075660" "5075660" "subst" "8.38764E-6" "01178" "NAGPA_000023" "g.5075660G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.5025659G>A" "" "VUS" "" "0000052227" "0" "50" "16" "5075620" "5075620" "del" "0" "01178" "NAGPA_000024" "g.5075620del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.5025619del" "" "VUS" "" "0000052228" "0" "50" "16" "5075526" "5075526" "subst" "0.000544578" "01178" "NAGPA_000025" "g.5075526C>T" "" "" "" "" "" "Germline" "" "rs141568446" "0" "" "" "g.5025525C>T" "" "VUS" "" "0000052229" "0" "50" "16" "5075477" "5075492" "del" "0" "01178" "NAGPA_000026" "g.5075477_5075492del" "" "" "" "1538_1553del16 (Phe513SerfsX113)" "" "Germline" "" "" "0" "" "" "g.5025476_5025491del" "" "VUS" "" "0000649341" "1" "50" "16" "5078125" "5078125" "subst" "0.00103114" "03575" "NAGPA_000016" "g.5078125G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs139526942}" "Germline" "" "rs139526942" "0" "" "" "g.5028124G>A" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes NAGPA ## Count = 27 "{{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}}" "0000052204" "00014260" "50" "131" "0" "131" "0" "c.131G>C" "r.(?)" "p.(Arg44Pro)" "2" "0000052205" "00014260" "70" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46Cys)" "2" "0000052206" "00014260" "50" "220" "0" "220" "0" "c.220G>C" "r.(?)" "p.(Gly74Arg)" "2" "0000052207" "00014260" "50" "236" "0" "236" "0" "c.236G>A" "r.(?)" "p.(Arg79His)" "2" "0000052208" "00014260" "50" "252" "0" "252" "0" "c.252C>G" "r.(?)" "p.(His84Gln)" "2" "0000052209" "00014260" "50" "257" "0" "257" "0" "c.257G>A" "r.(?)" "p.(Arg86Lys)" "2" "0000052210" "00014260" "50" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Pro100Leu)" "2" "0000052211" "00014260" "50" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Val188Met)" "3" "0000052212" "00014260" "50" "591" "0" "591" "0" "c.591G>C" "r.(?)" "p.(Gln197His)" "3" "0000052213" "00014260" "50" "641" "0" "641" "0" "c.641A>G" "r.(?)" "p.(Asn214Ser)" "3" "0000052214" "00014260" "50" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Glu223Lys)" "3" "0000052215" "00014260" "50" "676" "0" "676" "0" "c.676G>C" "r.(?)" "p.(Glu226Gln)" "3" "0000052216" "00014260" "50" "785" "0" "785" "0" "c.785A>G" "r.(?)" "p.(Gln262Arg)" "4" "0000052217" "00014260" "50" "851" "0" "851" "0" "c.851A>C" "r.(?)" "p.(Asn284Thr)" "5" "0000052218" "00014260" "50" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Arg316His)" "6" "0000052219" "00014260" "50" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Arg328Cys)" "6" "0000052220" "00014260" "50" "1129" "0" "1129" "0" "c.1129G>A" "r.(?)" "p.(Gly377Ser)" "7" "0000052221" "00014260" "50" "1187" "0" "1187" "0" "c.1187G>C" "r.(?)" "p.(Gly396Ala)" "8" "0000052222" "00014260" "50" "1209" "0" "1209" "0" "c.1209G>C" "r.(?)" "p.(Gln403His)" "8" "0000052223" "00014260" "50" "1243" "0" "1243" "0" "c.1243G>C" "r.(?)" "p.(Asp415His)" "8" "0000052224" "00014260" "50" "1264" "0" "1264" "0" "c.1264A>T" "r.(?)" "p.(Ser422Cys)" "8" "0000052225" "00014260" "50" "1319" "0" "1319" "0" "c.1319G>C" "r.(?)" "p.(Gly440Ala)" "9" "0000052226" "00014260" "50" "1367" "0" "1367" "0" "c.1367C>T" "r.(?)" "p.(Ala456Val)" "10" "0000052227" "00014260" "50" "1407" "0" "1407" "0" "c.1407del" "r.(?)" "p.(Ser470ProfsTer25)" "10" "0000052228" "00014260" "50" "1501" "0" "1501" "0" "c.1501G>A" "r.(?)" "p.(Ala501Thr)" "10" "0000052229" "00014260" "50" "1538" "0" "1553" "0" "c.1538_*5del" "r.(?)" "p.(Phe513Serfs*113)" "10" "0000649341" "00014260" "50" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Arg328Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{variantid}}" "0000028916" "0000052204" "0000028917" "0000052205" "0000028918" "0000052207" "0000028919" "0000052218" "0000028920" "0000052206" "0000028921" "0000052208" "0000028922" "0000052209" "0000028923" "0000052210" "0000028924" "0000052211" "0000028925" "0000052212" "0000028926" "0000052213" "0000028927" "0000052214" "0000028928" "0000052215" "0000028929" "0000052216" "0000028930" "0000052217" "0000028931" "0000052219" "0000028932" "0000052220" "0000028933" "0000052221" "0000028934" "0000052222" "0000028935" "0000052223" "0000028936" "0000052224" "0000028937" "0000052225" "0000028938" "0000052226" "0000028939" "0000052227" "0000028940" "0000052228" "0000028941" "0000052229" "0000292652" "0000649341"