### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PIGB) # 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}}" "PIGB" "phosphatidylinositol glycan anchor biosynthesis, class B" "15" "q21.3" "unknown" "NC_000015.9" "UD_136019768494" "" "https://www.LOVD.nl/PIGB" "" "1" "8959" "9488" "604122" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/PIGB_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-08-07 19:46:11" "00006" "2025-12-04 10:36:49" ## 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}}" "00016145" "PIGB" "phosphatidylinositol glycan anchor biosynthesis, class B" "001" "NM_004855.4" "" "NP_004846.4" "" "" "" "-316" "1881" "1665" "55611133" "55647846" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "00286" "DOORS" "deafness, onychodystrophy, osteodystrophy, mental retardation syndrome (DOORS)" "AR" "220500" "" "" "" "00081" "2013-11-28 16:01:26" "00006" "2021-12-10 21:51:32" "06282" "EIEE80" "Epileptic encephalopathy, early infantile, 80" "AR" "618580" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PIGB" "06282" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00240361" "" "" "" "1" "" "00081" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "F" "" "" "" "0" "" "" "" "" "00240373" "" "" "" "1" "" "00081" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "M" "" "" "" "0" "" "" "" "" "00240374" "" "" "" "1" "" "00081" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "F" "" "" "" "0" "" "" "" "" "00240375" "" "" "" "1" "" "00081" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "" "" "" "" "0" "" "" "" "" "00240376" "" "" "" "1" "" "00081" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "" "" "" "" "0" "" "" "" "" "00240377" "" "" "" "1" "" "00081" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "" "" "" "" "0" "" "" "" "" "00240470" "" "" "" "1" "" "00081" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "" "" "" "" "0" "" "" "" "" "00240471" "" "" "" "1" "" "00081" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "" "" "" "" "0" "" "" "" "" "00244445" "" "" "" "1" "" "00081" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "" "" "" "" "0" "" "" "" "" "00244446" "" "" "" "1" "" "00081" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "" "" "" "" "0" "" "" "" "" "00470599" "" "" "" "1" "" "00006" "{PMID:Wai 2020:32123317}" "studied effect of variant on RNA" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat228" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00240361" "00286" "00240373" "00198" "00240374" "00198" "00240375" "00198" "00240376" "00198" "00240377" "00198" "00240470" "00198" "00240471" "00198" "00244445" "00198" "00244446" "00198" "00470599" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00286, 06282 ## Count = 10 "{{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}}" "0000180435" "00286" "00240361" "00081" "Familial" "" "DD/ID, Seizures, Dysmorphic features, Deafness, Ophthalmological anomalies, Hand and feet anomalies, Brain MRI or CT anomalies, 2-oxoglutaric aciduria increase" "" "" "" "" "" "" "" "" "" "" "" "0000180438" "00198" "00240373" "00081" "Familial, autosomal recessive" "" "DD/ID, Seizures, Deafness, Ophthalmological anomalies" "" "" "" "" "" "" "" "" "" "" "" "0000180439" "00198" "00240374" "00081" "Familial, autosomal recessive" "" "DD/ID, Seizures, Dysmorphic features, Deafness, Ophthalmological anomalies, Hand and feet anomalies, Brain MRI or CT anomalies, Elevated serum alkaline phosphatase" "" "" "" "" "pcampeau" "" "" "" "" "" "" "0000180440" "00198" "00240375" "00081" "Familial, autosomal recessive" "" "DD/ID, Seizures, Elevated serum alkaline phosphatase" "" "" "" "" "" "" "" "" "" "" "" "0000180441" "00198" "00240376" "00081" "Familial, autosomal recessive" "" "DD/ID, Seizures, Dysmorphic features, Hand and feet anomalies, Elevated serum alkaline phosphatase" "" "" "" "" "" "" "" "" "" "" "" "0000180442" "00198" "00240377" "00081" "Familial, autosomal recessive" "" "DD/ID, Seizures, Dysmorphic features, Ophthalmological anomalies, Elevated serum alkaline phosphatase" "" "" "" "" "" "" "" "" "" "" "" "0000180482" "00198" "00240470" "00081" "Familial, autosomal recessive" "" "DD/ID, Seizures, Dysmorphic features, Deafness, Ophthalmological anomalies, Hand and feet anomalies, Brain MRI or CT anomalies, Elevated serum alkaline phosphatase" "" "" "" "" "" "" "" "" "" "" "" "0000180483" "00198" "00240471" "00081" "Unknown" "" "Seizures, Dysmorphic features, Hand and feet anomalies, Brain MRI or CT anomalies" "" "" "" "" "" "" "" "" "" "" "" "0000184418" "00198" "00244445" "00081" "Unknown" "" "DD/ID and Seizures" "" "" "" "" "" "" "" "" "" "" "" "0000184419" "00198" "00244446" "00081" "Familial, autosomal recessive" "" "DD/ID, Seizures, Dysmorphic features, Deafness, Hand and feet anomalies, Brain MRI or CT anomalies, and Elevated serum alkaline phosphatase" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000241466" "00240361" "1" "00081" "00081" "2019-06-14 20:34:17" "" "" "SEQ-NG" "DNA" "" "" "0000241473" "00240361" "1" "00081" "00081" "2019-06-14 22:31:43" "" "" "SEQ-NG" "DNA" "" "" "0000241483" "00240373" "1" "00081" "00081" "2019-06-18 22:35:45" "" "" "SEQ-NG" "DNA" "" "" "0000241484" "00240374" "1" "00081" "00081" "2019-06-18 22:52:00" "" "" "SEQ-NG" "DNA" "" "" "0000241485" "00240375" "1" "00081" "00081" "2019-06-18 23:04:31" "" "" "SEQ-NG" "DNA" "" "" "0000241486" "00240376" "1" "00081" "00081" "2019-06-18 23:15:45" "" "" "SEQ-NG" "DNA" "" "" "0000241487" "00240377" "1" "00081" "00081" "2019-06-18 23:22:19" "" "" "SEQ-NG" "DNA" "" "" "0000241580" "00240470" "1" "00081" "00081" "2019-06-20 23:23:48" "" "" "SEQ-NG" "DNA" "" "" "0000241581" "00240471" "1" "00081" "00081" "2019-06-20 23:29:58" "" "" "SEQ-NG" "DNA" "" "" "0000245557" "00244445" "1" "00081" "00081" "2019-06-24 17:15:44" "" "" "SEQ-NG" "DNA" "" "" "0000245558" "00244446" "1" "00081" "00081" "2019-06-24 17:20:47" "" "" "SEQ-NG" "DNA" "" "" "0000472266" "00470599" "1" "00006" "00006" "2025-12-04 10:36:21" "" "" "RT-PCR;SEQ" "DNA;RNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000241466" "P2RX1" "0000472266" "PIGB" ## 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 = 46 "{{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}}" "0000256509" "0" "50" "15" "55652389" "55652389" "subst" "0" "01943" "CCPG1_000001" "g.55652389A>C" "" "" "" "CCPG1(NM_004748.4):c.1582T>G (p.S528A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55360191A>C" "" "VUS" "" "0000305602" "0" "50" "15" "55612577" "55612577" "subst" "0" "01943" "PIGB_000001" "g.55612577T>C" "" "" "" "PIGB(NM_004855.5):c.268T>C (p.S90P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55320379T>C" "" "VUS" "" "0000487443" "21" "99" "15" "55612521" "55612521" "subst" "8.12955E-6" "00081" "PIGB_000002" "g.55612521G>A" "" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "" "" "Germline" "" "" "0" "" "" "g.55320323G>A" "" "pathogenic (recessive)" "" "0000487446" "11" "99" "15" "55642935" "55642935" "subst" "0" "00081" "PIGB_000009" "g.55642935G>C" "" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "" "" "Germline" "" "" "0" "" "" "g.55350737G>C" "" "pathogenic (recessive)" "" "0000487454" "21" "99" "15" "55626106" "55626106" "subst" "4.14955E-5" "00081" "PIGB_000003" "g.55626106G>A" "" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "" "" "Germline" "" "" "0" "" "" "g.55333908G>A" "" "pathogenic (recessive)" "" "0000487455" "11" "99" "15" "55632819" "55632819" "subst" "0" "00081" "PIGB_000004" "g.55632819G>C" "" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "" "" "Germline" "" "" "0" "" "" "g.55340621G>C" "" "pathogenic (recessive)" "" "0000487456" "0" "99" "15" "55642993" "55642993" "subst" "0" "00081" "PIGB_000005" "g.55642993A>G" "" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "" "" "Germline" "" "" "0" "" "" "g.55350795A>G" "" "pathogenic (recessive)" "" "0000487457" "0" "99" "15" "55632800" "55632800" "subst" "7.03253E-5" "00081" "PIGB_000006" "g.55632800A>G" "" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "" "" "Germline" "" "" "0" "" "" "g.55340602A>G" "" "pathogenic (recessive)" "" "0000487458" "0" "99" "15" "55613563" "55613563" "subst" "4.33832E-6" "00081" "PIGB_000007" "g.55613563T>G" "" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "" "" "Germline" "" "" "0" "" "" "g.55321365T>G" "" "pathogenic (recessive)" "" "0000487459" "0" "99" "15" "55647576" "55647576" "subst" "0" "00081" "PIGB_000008" "g.55647576A>G" "" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "" "" "Germline" "" "" "0" "" "" "g.55355378A>G" "" "pathogenic (recessive)" "" "0000487460" "0" "99" "15" "55632800" "55632800" "subst" "7.03253E-5" "00081" "PIGB_000006" "g.55632800A>G" "" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "" "" "Germline" "" "" "0" "" "" "g.55340602A>G" "" "pathogenic (recessive)" "" "0000487590" "3" "99" "15" "55632800" "55632800" "subst" "7.03253E-5" "00081" "PIGB_000006" "g.55632800A>G" "" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "" "" "Germline" "" "" "0" "" "" "g.55340602A>G" "" "pathogenic (recessive)" "" "0000487591" "0" "57" "15" "55612577" "55612577" "subst" "0" "00081" "PIGB_000001" "g.55612577T>C" "" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.55320379T>C" "" "VUS" "" "0000497703" "0" "77" "15" "55619774" "55619774" "subst" "8.17822E-6" "00081" "PIGB_000010" "g.55619774G>C" "" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.55327576G>C" "" "likely pathogenic (recessive)" "" "0000497704" "3" "99" "15" "55632800" "55632800" "subst" "7.03253E-5" "00081" "PIGB_000006" "g.55632800A>G" "" "{PMID:Murakami 2019:31256876}, {DOI:Murakami 2019:10.1016/j.ajhg.2019.05.019}" "" "" "" "Germline" "" "" "0" "" "" "g.55340602A>G" "" "pathogenic (recessive)" "" "0000554817" "0" "50" "15" "55727164" "55727164" "subst" "4.07432E-6" "01804" "CCPG1_000002" "g.55727164T>A" "" "" "" "DYX1C1(NM_001033559.2):c.986A>T (p.(Asn329Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55434966T>A" "" "VUS" "" "0000554818" "0" "50" "15" "55731682" "55731682" "subst" "0.00116172" "01804" "CCPG1_000003" "g.55731682T>A" "" "" "" "DNAAF4(NM_130810.4):c.881A>T (p.(Lys294Met), p.K294M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55439484T>A" "" "VUS" "" "0000554819" "0" "50" "15" "55731754" "55731754" "subst" "0" "01804" "CCPG1_000004" "g.55731754C>G" "" "" "" "DYX1C1(NM_001033559.2):c.809G>C (p.(Arg270Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55439556C>G" "" "VUS" "" "0000554820" "0" "90" "15" "55759223" "55759223" "subst" "0" "02325" "CCPG1_000005" "g.55759223A>C" "" "" "" "DNAAF4(NM_130810.4):c.542T>G (p.L181*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55467025A>C" "" "pathogenic" "" "0000554821" "0" "10" "15" "55789910" "55789910" "subst" "0.0472891" "01804" "CCPG1_000006" "g.55789910C>T" "" "" "" "DNAAF4(NM_130810.4):c.271G>A (p.(Val91Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55497712C>T" "" "benign" "" "0000615398" "0" "70" "15" "55724734" "55724734" "subst" "4.06151E-6" "02329" "CCPG1_000007" "g.55724734G>A" "" "" "" "DNAAF4(NM_130810.4):c.1114C>T (p.R372C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55432536G>A" "" "likely pathogenic" "" "0000615399" "0" "90" "15" "55731780" "55731780" "subst" "0" "02329" "CCPG1_000008" "g.55731780C>T" "" "" "" "DNAAF4(NM_130810.4):c.784-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55439582C>T" "" "pathogenic" "" "0000691820" "0" "50" "15" "55722919" "55722919" "subst" "0" "01943" "CCPG1_000009" "g.55722919A>T" "" "" "" "DNAAF4(NM_001033559.2):c.1106T>A (p.L369*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725193" "0" "50" "15" "55652305" "55652305" "subst" "8.15468E-6" "01943" "CCPG1_000010" "g.55652305T>C" "" "" "" "CCPG1(NM_004748.4):c.1666A>G (p.K556E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725194" "0" "50" "15" "55652618" "55652618" "subst" "0" "01943" "CCPG1_000011" "g.55652618C>A" "" "" "" "CCPG1(NM_004748.4):c.1353G>T (p.L451F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806771" "0" "50" "15" "55631510" "55631510" "del" "0" "02325" "CCPG1_000012" "g.55631510del" "" "" "" "PIGB(NM_004855.5):c.840delT (p.F280Lfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806772" "0" "50" "15" "55724715" "55724715" "subst" "0" "02329" "CCPG1_000013" "g.55724715T>G" "" "" "" "DNAAF4(NM_130810.4):c.1133A>C (p.Q378P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854089" "0" "50" "15" "55727237" "55727237" "subst" "0" "02325" "CCPG1_000014" "g.55727237T>G" "" "" "" "DNAAF4(NM_130810.4):c.913A>C (p.N305H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854090" "0" "30" "15" "55759342" "55759342" "subst" "0" "01943" "CCPG1_000015" "g.55759342C>T" "" "" "" "DNAAF4(NM_130810.3):c.423G>A (p.R141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854091" "0" "30" "15" "55759345" "55759345" "subst" "0" "01943" "CCPG1_000016" "g.55759345C>T" "" "" "" "DNAAF4(NM_130810.3):c.420G>A (p.E140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892156" "0" "70" "15" "55727162" "55727162" "subst" "2.44688E-5" "02329" "CCPG1_000017" "g.55727162G>A" "" "" "" "DNAAF4(NM_130810.4):c.988C>T (p.R330W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892157" "0" "50" "15" "55731682" "55731682" "subst" "0.00116172" "02325" "CCPG1_000003" "g.55731682T>A" "" "" "" "DNAAF4(NM_130810.4):c.881A>T (p.(Lys294Met), p.K294M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892158" "0" "90" "15" "55759250" "55759250" "dup" "0" "02329" "CCPG1_000018" "g.55759250dup" "" "" "" "DNAAF4(NM_130810.4):c.523dupA (p.I175Nfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926001" "0" "30" "15" "55790426" "55790426" "subst" "8.13809E-5" "02325" "CCPG1_000019" "g.55790426G>A" "" "" "" "DNAAF4(NM_130810.4):c.102C>T (p.F34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967856" "0" "50" "15" "55783427" "55783427" "subst" "0" "02325" "CCPG1_000020" "g.55783427C>T" "" "" "" "DNAAF4(NM_130810.4):c.299G>A (p.R100K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981301" "0" "50" "15" "55611595" "55611595" "subst" "0" "01804" "CCPG1_000021" "g.55611595C>T" "" "" "" "PIGB(NM_004855.5):c.147C>T (p.(Ser49=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981302" "0" "30" "15" "55619725" "55619725" "subst" "0.000740974" "01804" "CCPG1_000022" "g.55619725G>A" "" "" "" "PIGB(NM_004855.5):c.418-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981303" "0" "50" "15" "55727128" "55727128" "subst" "8.20351E-6" "01804" "CCPG1_000023" "g.55727128T>A" "" "" "" "DNAAF4(NM_130810.4):c.1022A>T (p.(His341Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026465" "0" "90" "15" "55731780" "55731780" "subst" "0" "02327" "CCPG1_000008" "g.55731780C>T" "" "" "" "DNAAF4(NM_130810.4):c.784-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026466" "0" "50" "15" "55742479" "55742479" "subst" "0" "02325" "CCPG1_000024" "g.55742479A>C" "" "" "" "DNAAF4(NM_130810.4):c.724T>G (p.F242V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040449" "0" "70" "15" "55622053" "55622053" "subst" "0" "01804" "CCPG1_000025" "g.55622053G>A" "" "" "" "PIGB(NM_004855.5):c.653+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001040450" "0" "50" "15" "55731701" "55731701" "subst" "0.000150271" "01804" "CCPG1_000026" "g.55731701T>C" "" "" "" "DNAAF4(NM_130810.4):c.862A>G (p.(Lys288Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040451" "0" "50" "15" "55789966" "55789966" "subst" "5.68643E-5" "01804" "CCPG1_000027" "g.55789966A>C" "" "" "" "DNAAF4(NM_130810.4):c.215T>G (p.(Val72Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040452" "0" "50" "15" "55789984" "55789984" "subst" "0.000223394" "01804" "CCPG1_000028" "g.55789984A>G" "" "" "" "DNAAF4(NM_130810.4):c.197T>C (p.(Ile66Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040453" "0" "30" "15" "55790414" "55790414" "subst" "0.0134139" "01804" "CCPG1_000029" "g.55790414G>T" "" "" "" "DNAAF4(NM_130810.4):c.114C>A (p.(Asn38Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001060678" "0" "70" "15" "55632800" "55632800" "subst" "7.03253E-5" "00006" "PIGB_000006" "g.55632800A>G" "" "{PMID:Wai 2020:32123317}" "" "" "alternative intronic 3´splice site activated" "Germline" "" "" "0" "" "" "g.55340602A>G" "" "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 PIGB ## Count = 46 "{{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}}" "0000256509" "00016145" "50" "6424" "0" "6424" "0" "c.*4759A>C" "r.(=)" "p.(=)" "" "0000305602" "00016145" "50" "268" "0" "268" "0" "c.268T>C" "r.(?)" "p.(Ser90Pro)" "" "0000487443" "00016145" "99" "212" "0" "212" "0" "c.212G>A" "r.(212g>a)" "p.(Arg71Gln)" "" "0000487446" "00016145" "99" "1162" "0" "1162" "0" "c.1162G>C" "r.(1162g>c)" "p.Ala388Pro" "" "0000487454" "00016145" "99" "695" "0" "695" "0" "c.695G>A" "r.(695g>a)" "p.(Arg232His)" "" "0000487455" "00016145" "99" "856" "0" "856" "0" "c.856G>C" "r.(856g>c)" "p.(Val286Leu)" "" "0000487456" "00016145" "99" "1220" "0" "1220" "0" "c.1220A>G" "r.(1220a>g)" "p.(His407Arg)" "" "0000487457" "00016145" "99" "847" "-10" "847" "-10" "c.847-10A>G" "r.(?)" "p.(Gln282_Trp283insArgCysGln)" "" "0000487458" "00016145" "99" "392" "0" "392" "0" "c.392T>G" "r.(392u>g)" "p.(Leu131*)" "" "0000487459" "00016145" "99" "1611" "0" "1611" "0" "c.1611A>G" "r.(1611a>g)" "p.(Ile537Met)" "" "0000487460" "00016145" "99" "847" "-10" "847" "-10" "c.847-10A>G" "r.(?)" "p.(Gln282_Trp283insArgCysGln)" "" "0000487590" "00016145" "99" "847" "-10" "847" "-10" "c.847-10A>G" "r.(?)" "p.(Gln282_Trp283insArgCysGln)" "" "0000487591" "00016145" "57" "268" "0" "268" "0" "c.268T>C" "r.(268u>c)" "p.(Ser90Pro)" "" "0000497703" "00016145" "77" "463" "0" "463" "0" "c.463G>C" "r.463G>C" "p.Asp155His" "" "0000497704" "00016145" "99" "847" "-10" "847" "-10" "c.847-10A>G" "r.847-10A>G" "p.Gln282_Trp283insArgCysGln" "" "0000554817" "00016145" "50" "81199" "0" "81199" "0" "c.*79534T>A" "r.(=)" "p.(=)" "" "0000554818" "00016145" "50" "85717" "0" "85717" "0" "c.*84052T>A" "r.(=)" "p.(=)" "" "0000554819" "00016145" "50" "85789" "0" "85789" "0" "c.*84124C>G" "r.(=)" "p.(=)" "" "0000554820" "00016145" "90" "113258" "0" "113258" "0" "c.*111593A>C" "r.(=)" "p.(=)" "" "0000554821" "00016145" "10" "143945" "0" "143945" "0" "c.*142280C>T" "r.(=)" "p.(=)" "" "0000615398" "00016145" "70" "78769" "0" "78769" "0" "c.*77104G>A" "r.(=)" "p.(=)" "" "0000615399" "00016145" "90" "85815" "0" "85815" "0" "c.*84150C>T" "r.(=)" "p.(=)" "" "0000691820" "00016145" "50" "76954" "0" "76954" "0" "c.*75289A>T" "r.(=)" "p.(=)" "" "0000725193" "00016145" "50" "6340" "0" "6340" "0" "c.*4675T>C" "r.(=)" "p.(=)" "" "0000725194" "00016145" "50" "6653" "0" "6653" "0" "c.*4988C>A" "r.(=)" "p.(=)" "" "0000806771" "00016145" "50" "840" "0" "840" "0" "c.840del" "r.(?)" "p.(Phe280Leufs*12)" "" "0000806772" "00016145" "50" "78750" "0" "78750" "0" "c.*77085T>G" "r.(=)" "p.(=)" "" "0000854089" "00016145" "50" "81272" "0" "81272" "0" "c.*79607T>G" "r.(=)" "p.(=)" "" "0000854090" "00016145" "30" "113377" "0" "113377" "0" "c.*111712C>T" "r.(=)" "p.(=)" "" "0000854091" "00016145" "30" "113380" "0" "113380" "0" "c.*111715C>T" "r.(=)" "p.(=)" "" "0000892156" "00016145" "70" "81197" "0" "81197" "0" "c.*79532G>A" "r.(=)" "p.(=)" "" "0000892157" "00016145" "50" "85717" "0" "85717" "0" "c.*84052T>A" "r.(=)" "p.(=)" "" "0000892158" "00016145" "90" "113285" "0" "113285" "0" "c.*111620dup" "r.(?)" "p.(=)" "" "0000926001" "00016145" "30" "144461" "0" "144461" "0" "c.*142796G>A" "r.(=)" "p.(=)" "" "0000967856" "00016145" "50" "137462" "0" "137462" "0" "c.*135797C>T" "r.(=)" "p.(=)" "" "0000981301" "00016145" "50" "147" "0" "147" "0" "c.147C>T" "r.(?)" "p.(=)" "" "0000981302" "00016145" "30" "418" "-4" "418" "-4" "c.418-4G>A" "r.spl?" "p.?" "" "0000981303" "00016145" "50" "81163" "0" "81163" "0" "c.*79498T>A" "r.(=)" "p.(=)" "" "0001026465" "00016145" "90" "85815" "0" "85815" "0" "c.*84150C>T" "r.(=)" "p.(=)" "" "0001026466" "00016145" "50" "96514" "0" "96514" "0" "c.*94849A>C" "r.(=)" "p.(=)" "" "0001040449" "00016145" "70" "653" "1" "653" "1" "c.653+1G>A" "r.spl?" "p.?" "" "0001040450" "00016145" "50" "85736" "0" "85736" "0" "c.*84071T>C" "r.(=)" "p.(=)" "" "0001040451" "00016145" "50" "144001" "0" "144001" "0" "c.*142336A>C" "r.(=)" "p.(=)" "" "0001040452" "00016145" "50" "144019" "0" "144019" "0" "c.*142354A>G" "r.(=)" "p.(=)" "" "0001040453" "00016145" "30" "144449" "0" "144449" "0" "c.*142784G>T" "r.(=)" "p.(=)" "" "0001060678" "00016145" "70" "847" "-10" "847" "-10" "c.847-10A>G" "r.846_847ins847-9_847-1" "p.Gln282_Trp283insArgCysGln" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000241466" "0000487443" "0000241473" "0000487446" "0000241483" "0000487454" "0000241483" "0000487455" "0000241484" "0000487456" "0000241485" "0000487457" "0000241486" "0000487458" "0000241486" "0000487459" "0000241487" "0000487460" "0000241580" "0000487590" "0000241581" "0000487591" "0000245557" "0000497703" "0000245558" "0000497704" "0000472266" "0001060678"