### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COG4) # 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}}" "COG4" "component of oligomeric golgi complex 4" "16" "" "unknown" "NG_027529.1" "UD_132118686904" "" "http://www.LOVD.nl/COG4" "" "1" "18620" "25839" "606976" "1" "1" "1" "1" "The establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/COG4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-09-05 00:00:00" "00006" "2014-10-23 06:24:37" "00000" "2025-05-05 21:14:00" ## 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}}" "00023968" "COG4" "transcript variant 1" "002" "NM_015386.2" "" "NP_056201.2" "" "" "" "-11" "2811" "2370" "70557457" "70514472" "00006" "2014-10-23 06:22:50" "" "" ## 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}}" "03346" "CDG2J" "glycosylation, congenital disorder of, type IIj (CDG-2J)" "AR" "613489" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05492" "SWILS" "Saul-Wilson syndrome (SWILS)" "AD" "618150" "" "autosomal dominant" "" "00006" "2018-10-28 22:51:27" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "COG4" "03346" "COG4" "05492" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00184280" "" "" "" "9" "" "00006" "{PMID:Ferreira 2018:30290151}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "yes" "United States" "" "0" "" "" "" "30290151-Pat1.1" "00184283" "" "" "" "1" "" "00006" "{PMID:Ferreira 2018:30290151}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "yes" "United States" "" "0" "" "" "" "30290151-Pat2" "00184284" "" "" "" "1" "" "00006" "{PMID:Ferreira 2018:30290151}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "yes" "Germany" "" "0" "" "" "" "30290151-Pat3" "00184285" "" "" "" "1" "" "00006" "{PMID:Ferreira 2018:30290151}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "yes" "Brazil" "" "0" "" "" "" "30290151-Pat4" "00184286" "" "" "" "2" "" "00006" "{PMID:Ferreira 2018:30290151}" "2-generation family, affected BROTHERS, unaffected non-carrier parents" "M" "yes" "United States" "" "0" "" "" "" "30290151-Pat5.1" "00184287" "" "" "00184286" "1" "" "00006" "{PMID:Ferreira 2018:30290151}" "Pat5.2" "M" "yes" "United States" "" "0" "" "" "" "30290151-Pat5.2" "00184288" "" "" "" "1" "" "00006" "{PMID:Ferreira 2018:30290151}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "yes" "United States" "" "0" "" "" "" "30290151-Pat6" "00184289" "" "" "" "1" "" "00006" "{PMID:Ferreira 2018:30290151}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "yes" "United States" "" "0" "" "" "" "30290151-Pat7" "00184290" "" "" "" "1" "" "00006" "{PMID:Ferreira 2018:30290151}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "yes" "Sweden" "" "0" "" "" "" "30290151-Pat8" "00184291" "" "" "" "1" "" "00006" "{PMID:Ferreira 2018:30290151}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "yes" "Canada" "" "0" "" "" "" "30290151-Pat9" "00184292" "" "" "" "1" "" "00006" "{PMID:Ferreira 2018:30290151}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "yes" "Denmark" "" "0" "" "" "" "30290151-Pat10" "00184293" "" "" "" "1" "" "00006" "{PMID:Ferreira 2018:30290151}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "yes" "" "" "0" "" "" "Hispanic" "30290151-Pat11" "00184294" "" "" "" "1" "" "00006" "{PMID:Ferreira 2018:30290151}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "yes" "United States" "" "0" "" "" "" "30290151-Pat12" "00184295" "" "" "" "1" "" "00006" "{PMID:Ferreira 2018:30290151}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "yes" "Korea" "" "0" "" "" "" "30290151-Pat13" "00385104" "" "" "" "1" "" "00006" "{PMID:Gershlick 2019:30624672}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00184280" "05492" "00184283" "05492" "00184284" "05492" "00184285" "05492" "00184286" "05492" "00184287" "05492" "00184288" "05492" "00184289" "05492" "00184290" "05492" "00184291" "05492" "00184292" "05492" "00184293" "05492" "00184294" "05492" "00184295" "05492" "00385104" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03346, 05492, 05611 ## Count = 15 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000144414" "05492" "00184280" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "SWILS" "" "0000144415" "05492" "00184283" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "SWILS" "" "0000144416" "05492" "00184284" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "SWILS" "" "0000144417" "05492" "00184285" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "SWILS" "" "0000144418" "05492" "00184286" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "SWILS" "" "0000144419" "05492" "00184287" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "SWILS" "" "0000144420" "05492" "00184288" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "SWILS" "" "0000144421" "05492" "00184289" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "SWILS" "" "0000144422" "05492" "00184290" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "SWILS" "" "0000144423" "05492" "00184291" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "SWILS" "" "0000144424" "05492" "00184292" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "SWILS" "" "0000144425" "05492" "00184293" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "SWILS" "" "0000144426" "05492" "00184294" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "SWILS" "" "0000144427" "05492" "00184295" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "SWILS" "" "0000278887" "05611" "00385104" "00006" "Familial, autosomal recessive" "06y" "see paper; ..., early infancy cholestatic hepatitis, feeding difficulties, failure to thrive; ongoing liver dysfunction requiring treatment with bile acid ursodiol, gastrostomy tube dependence, hypotonia, marked microcephaly, severe global developmental delay, inability to sit, lack of spoken language, electrical status epilepticus in sleep requiring anticonvulsant therapy, cortical vision impairment, strabismus, sleep apnea, gastric volvulus, constipation, asthma, episodic respiratory infections (incl. respiratory syncytial virus), adenoviral pneumonia, pleural effusion; minor dysmorphic features, epicanthal folds, long eyelashes, slightly overfolded ears, upturned nasal tip, thin upper lip, high/narrow anterior palate, full/rounded cheeks, low posterior hairline, single flexion creases fifth fingers, mild clubbing thumbnails/other fingernails, increased hair upper back; 6y-bilateral lower extremity edema; 4m-MRI brain normal, 4y-6y-multiple abnormalities, small cerebellar vermis, small pons/brainstem, enlarged infra-vermian cistern with suspicion Dandy–Walker variant, small hippocampus, thin corpus callosum, abnormal white matter signal cerebral hemispheres" "" "" "" "" "" "" "" "PCH13" "neurodevelopmental delay" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000185247" "00184280" "1" "00006" "00006" "2018-10-28 22:31:10" "00006" "2018-10-28 22:53:48" "SEQ-NG" "DNA" "" "" "0000185250" "00184283" "1" "00006" "00006" "2018-10-28 22:31:10" "00006" "2018-10-28 22:53:48" "SEQ-NG" "DNA" "" "WGS" "0000185251" "00184284" "1" "00006" "00006" "2018-10-28 22:31:10" "00006" "2018-10-28 22:53:48" "SEQ-NG" "DNA" "" "" "0000185252" "00184285" "1" "00006" "00006" "2018-10-28 22:31:10" "00006" "2018-10-28 22:53:48" "SEQ-NG" "DNA" "" "" "0000185253" "00184286" "1" "00006" "00006" "2018-10-28 22:31:10" "00006" "2018-10-28 22:53:48" "SEQ-NG" "DNA" "" "WES" "0000185254" "00184287" "1" "00006" "00006" "2018-10-28 22:31:10" "00006" "2018-10-28 22:53:48" "SEQ-NG" "DNA" "" "WES" "0000185255" "00184288" "1" "00006" "00006" "2018-10-28 22:31:10" "00006" "2018-10-28 22:53:48" "SEQ-NG" "DNA" "" "WES" "0000185256" "00184289" "1" "00006" "00006" "2018-10-28 22:31:10" "00006" "2018-10-28 22:53:48" "SEQ-NG" "DNA" "" "WGS" "0000185257" "00184290" "1" "00006" "00006" "2018-10-28 22:31:10" "00006" "2018-10-28 22:53:48" "SEQ-NG" "DNA" "" "" "0000185258" "00184291" "1" "00006" "00006" "2018-10-28 22:31:10" "00006" "2018-10-28 22:53:48" "SEQ-NG" "DNA" "" "WES" "0000185259" "00184292" "1" "00006" "00006" "2018-10-28 22:31:10" "00006" "2018-10-28 22:53:48" "SEQ-NG" "DNA" "" "WES trio" "0000185260" "00184293" "1" "00006" "00006" "2018-10-28 22:31:10" "00006" "2018-10-28 22:53:48" "SEQ-NG" "DNA" "" "WES trio" "0000185261" "00184294" "1" "00006" "00006" "2018-10-28 22:31:10" "00006" "2018-10-28 22:53:48" "SEQ" "DNA" "" "" "0000185262" "00184295" "1" "00006" "00006" "2018-10-28 22:31:10" "00006" "2018-10-28 22:53:48" "SEQ-NG" "DNA" "" "WES trio" "0000386333" "00385104" "1" "00006" "00006" "2021-10-07 10:37:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000185247" "COG4" "0000185250" "COG4" "0000185251" "COG4" "0000185252" "COG4" "0000185253" "COG4" "0000185254" "COG4" "0000185255" "COG4" "0000185256" "COG4" "0000185257" "COG4" "0000185258" "COG4" "0000185259" "COG4" "0000185260" "COG4" "0000185261" "COG4" "0000185262" "COG4" "0000386333" "VPS51" ## 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 = 50 "{{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}}" "0000266873" "0" "10" "16" "70515355" "70515355" "subst" "0.416012" "02325" "COG4_000001" "g.70515355C>T" "" "" "" "COG4(NM_015386.3):c.2142G>A (p.S714=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70481452C>T" "" "benign" "" "0000266874" "0" "10" "16" "70548297" "70548297" "subst" "0.945346" "02325" "COG4_000004" "g.70548297G>A" "" "" "" "COG4(NM_015386.3):c.485C>T (p.T162I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70514394G>A" "" "benign" "" "0000266875" "0" "10" "16" "70546234" "70546234" "subst" "0.453781" "02325" "COG4_000003" "g.70546234G>A" "" "" "" "COG4(NM_015386.3):c.646C>T (p.L216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70512331G>A" "" "benign" "" "0000324865" "0" "30" "16" "70512518" "70512518" "subst" "4.06597E-5" "01804" "FUK_000006" "g.70512518G>A" "" "" "" "FUK(NM_145059.2):c.2894G>A (p.(Arg965Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70478615G>A" "" "likely benign" "" "0000345503" "0" "50" "16" "70516637" "70516637" "subst" "4.06217E-6" "02327" "COG4_000005" "g.70516637C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70482734C>G" "" "VUS" "" "0000348402" "0" "50" "16" "70534984" "70534984" "subst" "0.000349918" "02327" "COG4_000006" "g.70534984G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70501081G>T" "" "VUS" "" "0000410647" "0" "90" "16" "70530270" "70530270" "subst" "0" "00006" "COG4_000007" "g.70530270C>T" "" "{PMID:Ferreira 2018:30290151}" "" "" "" "De novo" "" "" "0" "" "" "g.70496367C>T" "" "pathogenic (dominant)" "" "0000410648" "0" "90" "16" "70530270" "70530270" "subst" "0" "00006" "COG4_000007" "g.70530270C>T" "" "{PMID:Ferreira 2018:30290151}" "" "" "" "De novo" "" "" "0" "" "" "g.70496367C>T" "" "pathogenic (dominant)" "" "0000410649" "0" "90" "16" "70530270" "70530270" "subst" "0" "00006" "COG4_000007" "g.70530270C>T" "" "{PMID:Ferreira 2018:30290151}" "" "" "" "De novo" "" "" "0" "" "" "g.70496367C>T" "" "pathogenic (dominant)" "" "0000410650" "0" "90" "16" "70530270" "70530270" "subst" "0" "00006" "COG4_000008" "g.70530270C>G" "" "{PMID:Ferreira 2018:30290151}" "" "" "" "De novo" "" "" "0" "" "" "g.70496367C>G" "" "pathogenic (dominant)" "" "0000410651" "0" "90" "16" "70530270" "70530270" "subst" "0" "00006" "COG4_000007" "g.70530270C>T" "" "{PMID:Ferreira 2018:30290151}" "" "" "" "De novo" "" "" "0" "" "" "g.70496367C>T" "" "pathogenic (dominant)" "" "0000410652" "0" "90" "16" "70530270" "70530270" "subst" "0" "00006" "COG4_000007" "g.70530270C>T" "" "{PMID:Ferreira 2018:30290151}" "" "" "" "De novo" "" "" "0" "" "" "g.70496367C>T" "" "pathogenic (dominant)" "" "0000410653" "0" "90" "16" "70530270" "70530270" "subst" "0" "00006" "COG4_000007" "g.70530270C>T" "" "{PMID:Ferreira 2018:30290151}" "" "" "" "De novo" "" "" "0" "" "" "g.70496367C>T" "" "pathogenic (dominant)" "" "0000410654" "0" "90" "16" "70530270" "70530270" "subst" "0" "00006" "COG4_000007" "g.70530270C>T" "" "{PMID:Ferreira 2018:30290151}" "" "" "" "De novo" "" "" "0" "" "" "g.70496367C>T" "" "pathogenic (dominant)" "" "0000410655" "0" "90" "16" "70530270" "70530270" "subst" "0" "00006" "COG4_000007" "g.70530270C>T" "" "{PMID:Ferreira 2018:30290151}" "" "" "" "De novo" "" "" "0" "" "" "g.70496367C>T" "" "pathogenic (dominant)" "" "0000410656" "0" "90" "16" "70530270" "70530270" "subst" "0" "00006" "COG4_000007" "g.70530270C>T" "" "{PMID:Ferreira 2018:30290151}" "" "" "" "De novo" "" "" "0" "" "" "g.70496367C>T" "" "pathogenic (dominant)" "" "0000410657" "0" "90" "16" "70530270" "70530270" "subst" "0" "00006" "COG4_000007" "g.70530270C>T" "" "{PMID:Ferreira 2018:30290151}" "" "" "" "De novo" "" "" "0" "" "" "g.70496367C>T" "" "pathogenic (dominant)" "" "0000410658" "0" "90" "16" "70530270" "70530270" "subst" "0" "00006" "COG4_000007" "g.70530270C>T" "" "{PMID:Ferreira 2018:30290151}" "" "" "" "De novo" "" "" "0" "" "" "g.70496367C>T" "" "pathogenic (dominant)" "" "0000410659" "0" "90" "16" "70530270" "70530270" "subst" "0" "00006" "COG4_000008" "g.70530270C>G" "" "{PMID:Ferreira 2018:30290151}" "" "" "" "De novo" "" "" "0" "" "" "g.70496367C>G" "" "pathogenic (dominant)" "" "0000410660" "0" "90" "16" "70530270" "70530270" "subst" "0" "00006" "COG4_000008" "g.70530270C>G" "" "{PMID:Ferreira 2018:30290151}" "" "" "" "De novo" "" "" "0" "" "" "g.70496367C>G" "" "pathogenic (dominant)" "" "0000558958" "0" "30" "16" "70513576" "70513576" "subst" "0.000248371" "01943" "FUK_000008" "g.70513576T>A" "" "" "" "FUK(NM_145059.3):c.3248T>A (p.F1083Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70479673T>A" "" "likely benign" "" "0000558961" "0" "30" "16" "70517785" "70517785" "subst" "2.84428E-5" "01804" "FUK_000011" "g.70517785C>T" "" "" "" "COG4(NM_001195139.1):c.1735G>A (p.(Val579Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70483882C>T" "" "likely benign" "" "0000558962" "0" "30" "16" "70517820" "70517820" "subst" "0" "01804" "FUK_000012" "g.70517820G>A" "" "" "" "COG4(NM_001195139.1):c.1700C>T (p.(Ala567Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70483917G>A" "" "likely benign" "" "0000558963" "0" "30" "16" "70530255" "70530255" "subst" "0.00010558" "01804" "COG4_000009" "g.70530255C>T" "" "" "" "COG4(NM_001195139.1):c.1561G>A (p.(Val521Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70496352C>T" "" "likely benign" "" "0000558964" "0" "90" "16" "70530270" "70530270" "subst" "0" "02327" "COG4_000007" "g.70530270C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70496367C>T" "" "pathogenic" "" "0000558966" "0" "30" "16" "70546288" "70546288" "subst" "0.00200264" "01943" "COG4_000011" "g.70546288G>A" "" "" "" "COG4(NM_015386.2):c.592C>T (p.R198C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70512385G>A" "" "likely benign" "" "0000558967" "0" "30" "16" "70551615" "70551615" "subst" "0" "01804" "COG4_000012" "g.70551615C>T" "" "" "" "COG4(NM_001195139.1):c.283G>A (p.(Ala95Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70517712C>T" "" "likely benign" "" "0000558968" "0" "50" "16" "70553559" "70553559" "subst" "1.22002E-5" "01804" "SF3B3_000001" "g.70553559G>A" "" "" "" "COG4(NM_001195139.1):c.247C>T (p.(Arg83Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70519656G>A" "" "VUS" "" "0000623515" "0" "50" "16" "70531133" "70531133" "subst" "0" "02325" "COG4_000013" "g.70531133G>C" "" "" "" "COG4(NM_015386.3):c.1472C>G (p.S491C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70497230G>C" "" "VUS" "" "0000725933" "0" "30" "16" "70530256" "70530256" "subst" "0.000377665" "01943" "COG4_000014" "g.70530256G>A" "" "" "" "COG4(NM_015386.2):c.1560C>T (p.A520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725934" "0" "30" "16" "70542353" "70542353" "subst" "0.0017056" "01943" "COG4_000015" "g.70542353C>T" "" "" "" "COG4(NM_015386.2):c.1017G>A (p.Q339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000813810" "21" "50" "16" "70515751" "70515751" "subst" "2.44248E-5" "00006" "COG4_000016" "g.70515751G>C" "" "{PMID:Gershlick 2019:30624672}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000854611" "0" "30" "16" "70513553" "70513553" "subst" "0.00278562" "02325" "FUK_000015" "g.70513553C>T" "" "" "" "FCSK(NM_145059.3):c.3225C>T (p.T1075=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864914" "0" "30" "16" "70551519" "70551519" "subst" "0" "01943" "COG4_000017" "g.70551519G>T" "" "" "" "COG4(NM_015386.2):c.369+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950714" "0" "30" "16" "70551631" "70551631" "subst" "0.000150278" "01804" "COG4_000018" "g.70551631C>A" "" "" "" "COG4(NM_001195139.1):c.267G>T (p.(Gln89His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950715" "0" "50" "16" "70551632" "70551632" "subst" "0.000150281" "01804" "COG4_000019" "g.70551632T>G" "" "" "" "COG4(NM_001195139.1):c.266A>C (p.(Gln89Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968476" "0" "50" "16" "70512228" "70512228" "subst" "2.03153E-5" "01804" "FUK_000017" "g.70512228C>T" "" "" "" "FUK(NM_145059.2):c.2695C>T (p.(Arg899Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982022" "0" "50" "16" "70509601" "70509601" "subst" "0.0011735" "01804" "FUK_000020" "g.70509601G>A" "" "" "" "FCSK(NM_145059.3):c.2572G>A (p.(Ala858Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982023" "0" "30" "16" "70515778" "70515778" "subst" "2.4665E-5" "01804" "FUK_000021" "g.70515778G>C" "" "" "" "COG4(NM_015386.3):c.2005-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002523" "0" "30" "16" "70531271" "70531271" "subst" "4.88866E-5" "01804" "COG4_000020" "g.70531271T>C" "" "" "" "COG4(NM_001195139.1):c.1334A>G (p.(Tyr445Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002524" "0" "30" "16" "70543230" "70543230" "subst" "1.21819E-5" "01804" "COG4_000021" "g.70543230T>A" "" "" "" "COG4(NM_001195139.1):c.906A>T (p.(Arg302Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002525" "0" "30" "16" "70546278" "70546278" "subst" "1.22224E-5" "01804" "COG4_000022" "g.70546278G>C" "" "" "" "COG4(NM_001195139.1):c.602C>G (p.(Ala201Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002526" "0" "70" "16" "70557392" "70557392" "subst" "0" "01804" "SF3B3_000005" "g.70557392G>A" "" "" "" "COG4(NM_001195139.1):c.55C>T (p.(Gln19*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001026753" "0" "50" "16" "70513133" "70513133" "subst" "0.000231873" "02325" "FUK_000024" "g.70513133A>C" "" "" "" "FCSK(NM_145059.3):c.2980A>C (p.K994Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041300" "0" "50" "16" "70512256" "70512256" "subst" "0" "01804" "FUK_000026" "g.70512256T>C" "" "" "" "FCSK(NM_145059.3):c.2723T>C (p.(Val908Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041301" "0" "50" "16" "70512306" "70512306" "subst" "0" "01804" "FUK_000027" "g.70512306G>A" "" "" "" "FCSK(NM_145059.3):c.2773G>A (p.(Asp925Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041302" "0" "50" "16" "70516038" "70516038" "subst" "1.21822E-5" "01804" "FUK_000028" "g.70516038T>C" "" "" "" "COG4(NM_015386.3):c.1961A>G (p.(Gln654Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041303" "0" "50" "16" "70534950" "70534950" "subst" "0.000130012" "01804" "COG4_000023" "g.70534950C>T" "" "" "" "COG4(NM_015386.3):c.1106G>A (p.(Arg369His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041304" "0" "50" "16" "70551636" "70551636" "subst" "0" "01804" "COG4_000024" "g.70551636G>T" "" "" "" "COG4(NM_015386.3):c.262C>A (p.(Leu88Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041305" "0" "50" "16" "70553545" "70553546" "del" "0" "01804" "SF3B3_000006" "g.70553545_70553546del" "" "" "" "COG4(NM_015386.3):c.254+7_254+8del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes COG4 ## Count = 50 "{{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}}" "0000266873" "00023968" "10" "2142" "0" "2142" "0" "c.2142G>A" "r.(?)" "p.(Ser714=)" "" "0000266874" "00023968" "10" "485" "0" "485" "0" "c.485C>T" "r.(?)" "p.(Thr162Ile)" "" "0000266875" "00023968" "10" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Leu216=)" "" "0000324865" "00023968" "30" "4765" "0" "4765" "0" "c.*2395C>T" "r.(=)" "p.(=)" "" "0000345503" "00023968" "50" "1915" "0" "1915" "0" "c.1915G>C" "r.(?)" "p.(Glu639Gln)" "" "0000348402" "00023968" "50" "1072" "0" "1072" "0" "c.1072C>A" "r.(?)" "p.(Pro358Thr)" "" "0000410647" "00023968" "90" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Gly516Arg)" "" "0000410648" "00023968" "90" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Gly516Arg)" "" "0000410649" "00023968" "90" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Gly516Arg)" "" "0000410650" "00023968" "90" "1546" "0" "1546" "0" "c.1546G>C" "r.(?)" "p.(Gly516Arg)" "" "0000410651" "00023968" "90" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Gly516Arg)" "" "0000410652" "00023968" "90" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Gly516Arg)" "" "0000410653" "00023968" "90" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Gly516Arg)" "" "0000410654" "00023968" "90" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Gly516Arg)" "" "0000410655" "00023968" "90" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Gly516Arg)" "" "0000410656" "00023968" "90" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Gly516Arg)" "" "0000410657" "00023968" "90" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Gly516Arg)" "" "0000410658" "00023968" "90" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Gly516Arg)" "" "0000410659" "00023968" "90" "1546" "0" "1546" "0" "c.1546G>C" "r.(?)" "p.(Gly516Arg)" "" "0000410660" "00023968" "90" "1546" "0" "1546" "0" "c.1546G>C" "r.(?)" "p.(Gly516Arg)" "" "0000558958" "00023968" "30" "3707" "0" "3707" "0" "c.*1337A>T" "r.(=)" "p.(=)" "" "0000558961" "00023968" "30" "1798" "0" "1798" "0" "c.1798G>A" "r.(?)" "p.(Val600Met)" "" "0000558962" "00023968" "30" "1763" "0" "1763" "0" "c.1763C>T" "r.(?)" "p.(Ala588Val)" "" "0000558963" "00023968" "30" "1561" "0" "1561" "0" "c.1561G>A" "r.(?)" "p.(Val521Met)" "" "0000558964" "00023968" "90" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Gly516Arg)" "" "0000558966" "00023968" "30" "592" "0" "592" "0" "c.592C>T" "r.(?)" "p.(Arg198Cys)" "" "0000558967" "00023968" "30" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Ala95Thr)" "" "0000558968" "00023968" "50" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Arg83Ter)" "" "0000623515" "00023968" "50" "1472" "0" "1472" "0" "c.1472C>G" "r.(?)" "p.(Ser491Cys)" "" "0000725933" "00023968" "30" "1560" "0" "1560" "0" "c.1560C>T" "r.(?)" "p.(Ala520=)" "" "0000725934" "00023968" "30" "1017" "0" "1017" "0" "c.1017G>A" "r.(?)" "p.(Gln339=)" "" "0000813810" "00023968" "50" "2022" "0" "2022" "0" "c.2022C>G" "r.(=)" "p.(Val674=)" "" "0000854611" "00023968" "30" "3730" "0" "3730" "0" "c.*1360G>A" "r.(=)" "p.(=)" "" "0000864914" "00023968" "30" "369" "10" "369" "10" "c.369+10C>A" "r.(=)" "p.(=)" "" "0000950714" "00023968" "30" "267" "0" "267" "0" "c.267G>T" "r.(?)" "p.(Gln89His)" "" "0000950715" "00023968" "50" "266" "0" "266" "0" "c.266A>C" "r.(?)" "p.(Gln89Pro)" "" "0000968476" "00023968" "50" "5055" "0" "5055" "0" "c.*2685G>A" "r.(=)" "p.(=)" "" "0000982022" "00023968" "50" "7682" "0" "7682" "0" "c.*5312C>T" "r.(=)" "p.(=)" "" "0000982023" "00023968" "30" "2005" "-10" "2005" "-10" "c.2005-10C>G" "r.(=)" "p.(=)" "" "0001002523" "00023968" "30" "1334" "0" "1334" "0" "c.1334A>G" "r.(?)" "p.(Tyr445Cys)" "" "0001002524" "00023968" "30" "906" "0" "906" "0" "c.906A>T" "r.(?)" "p.(Arg302Ser)" "" "0001002525" "00023968" "30" "602" "0" "602" "0" "c.602C>G" "r.(?)" "p.(Ala201Gly)" "" "0001002526" "00023968" "70" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Gln19*)" "" "0001026753" "00023968" "50" "4150" "0" "4150" "0" "c.*1780T>G" "r.(=)" "p.(=)" "" "0001041300" "00023968" "50" "5027" "0" "5027" "0" "c.*2657A>G" "r.(=)" "p.(=)" "" "0001041301" "00023968" "50" "4977" "0" "4977" "0" "c.*2607C>T" "r.(=)" "p.(=)" "" "0001041302" "00023968" "50" "1961" "0" "1961" "0" "c.1961A>G" "r.(?)" "p.(Gln654Arg)" "" "0001041303" "00023968" "50" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "" "0001041304" "00023968" "50" "262" "0" "262" "0" "c.262C>A" "r.(?)" "p.(Leu88Met)" "" "0001041305" "00023968" "50" "254" "7" "254" "8" "c.254+7_254+8del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000185247" "0000410647" "0000185250" "0000410648" "0000185251" "0000410649" "0000185252" "0000410650" "0000185253" "0000410651" "0000185254" "0000410652" "0000185255" "0000410653" "0000185256" "0000410654" "0000185257" "0000410655" "0000185258" "0000410656" "0000185259" "0000410657" "0000185260" "0000410658" "0000185261" "0000410659" "0000185262" "0000410660" "0000386333" "0000813810"