### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRAPPC4) # 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}}" "TRAPPC4" "trafficking protein particle complex 4" "11" "q23.3" "unknown" "NC_000011.9" "UD_136019267372" "" "https://www.LOVD.nl/TRAPPC4" "" "1" "19943" "51399" "610971" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/TRAPPC4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-08-25 10:23:45" "00000" "2025-07-08 13:22:38" ## 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}}" "00021759" "TRAPPC4" "trafficking protein particle complex 4" "001" "NM_016146.4" "" "NP_057230.1" "" "" "" "-265" "935" "660" "118889241" "118894384" "" "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}}" "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" "05819" "NEDESBA" "neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (NEDESBA)" "AR" "618741" "" "" "" "00006" "2020-08-25 10:25:28" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TRAPPC4" "05819" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00306235" "" "" "" "1" "" "03565" "" "" "" "" "Egypt" "" "" "" "" "" "" "00307905" "" "" "" "2" "" "03219" "" "" "M" "yes" "India" "" "0" "" "Sodium valproate" "" "" "00307984" "" "" "" "2" "" "03219" "" "" "M" "yes" "India" "" "0" "" "Sodium valproate" "" "" "00308011" "" "" "" "2" "" "00006" "{PMID:Van Bergen 2020:31794024}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "no" "" "" "0" "" "Epilim, gabapentin and clobazam" "white" "Fam1PatII1" "00308012" "" "" "00308011" "1" "" "00006" "{PMID:Van Bergen 2020:31794024}" "brother" "M" "no" "" "" "0" "" "" "white" "Fam1PatII3" "00308013" "" "" "" "3" "" "00006" "{PMID:Van Bergen 2020:31794024}" "2-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous carrier parents" "M" "yes" "Turkey" "7y" "0" "" "" "" "Fam2PatII4" "00308014" "" "" "00308013" "1" "" "00006" "{PMID:Van Bergen 2020:31794024}" "sister" "F" "yes" "Turkey" "2y6m" "0" "" "" "" "Fam2PatII5" "00308015" "" "" "00308013" "1" "" "00006" "{PMID:Van Bergen 2020:31794024}" "sister" "F" "yes" "Turkey" "" "0" "" "Baclofen, levetiracetam" "" "Fam2PatII6" "00308016" "" "" "" "2" "" "00006" "{PMID:Van Bergen 2020:31794024}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "Canada" "3y" "0" "" "" "French-Canadian" "Fam3PatII1" "00308017" "" "" "00308016" "1" "" "00006" "{PMID:Van Bergen 2020:31794024}" "sister" "F" "no" "Canada" "" "0" "" "Keppra" "French-Canadian" "Fam3PatII2" "00314931" "" "" "" "1" "" "00006" "{PMID:Kaur 2020:32125366}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "" "India" "" "0" "" "" "" "FamPatIII2" "00449841" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00306235" "00198" "00307905" "00198" "00307984" "00198" "00308011" "00198" "00308012" "00198" "00308013" "00198" "00308014" "00198" "00308015" "00198" "00308016" "00198" "00308017" "00198" "00314931" "00198" "00449841" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05819 ## Count = 12 "{{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}}" "0000232084" "00198" "00306235" "03565" "Familial, autosomal recessive" "" "Neurodevelopmental disorder with epilepsy, spasticity, brain atrophy, and regression (OMIM #618741)" "" "" "" "" "" "" "" "" "" "" "" "0000233420" "00198" "00307905" "03219" "Familial, autosomal recessive" "" "neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy" "" "" "" "" "" "" "" "" "NEDESBA" "" "" "0000233434" "00198" "00308011" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., severe global developmental delay, developmental regression, spastic quadraplegia, dystonia, tremor, progressive scoliosis, epilepsy, cortical visual impairment, impaired hearing; facial dysmorphism, bitemporal narrowing, full cheeks, prominent nasal tip, long philtrum, open, wide mouth, tented upper lip, thin upper lip, pointed chin, abnormal dentition, hirsuitism; feeding difficulties, NG tube feeding, PEG tube feeds; premature adrenarche, temperature dysregulation, MRI progressive cortical and cerebellar atrophy with relative sparing of the basal ganglia, cortical atrophy preceded the cerebellar atrophy, no diffusion restriction has been obvious on sequential scans, no suggestion of iron deposition in the brainstem/basal ganglia, spastic quadraparesis with minimal spontaneous movement of limbs and hyperreflexia" "0d" "" "" "" "" "" "" "" "NEDESBA" "severe syndromic intellectual disability" "" "0000233435" "00198" "00308012" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., severe global developmental delay, developmental regression, spastic quadraplegia, dystonia, tremor, progressive scoliosis, epilepsy, cortical visual impairment, impaired hearing; facial dysmorphism, bitemporal narrowing, full cheeks, prominent nasal tip, long philtrum, open, wide mouth, tented upper lip, thin upper lip, pointed chin, abnormal dentition, hirsuitism; feeding difficulties, NG tube feeding, PEG tube feeds; no premature adrenarche, temperature dysregulation, MRI progressive cortical and cerebellar atrophy" "0d" "" "" "" "" "" "" "" "NEDESBA" "severe syndromic intellectual disability" "" "0000233436" "00198" "00308013" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., severe global developmental delay, spastic quadraplegia, dystonia, no progressive scoliosis, 3m-4m epilepsy, no cortical visual impairment, no tracking, no impaired hearing, contractures in elbows, knees, anales and fingers, hip dislocation; facial dysmorphism, bitemporal narrowing, full cheeks, prominent nasal tip, long philtrum, open, wide mouth, tented upper lip, thin upper lip, pointed chin; feeding difficulties, PEG tube feeds, G-tube procedure, maintained borderline weight; increased deep tendon reflexes" "" "" "" "" "" "" "" "" "NEDESBA" "severe syndromic intellectual disability" "" "0000233437" "00198" "00308014" "00006" "Familial, autosomal recessive" "2y6m" "see paper; ..., severe global developmental delay, spastic quadraplegia, no dystonia, no progressive scoliosis, 3m-4m epilepsy, no cortical visual impairment, no tracking, no impaired hearing, contractures in fingers; facial dysmorphism, bitemporal narrowing, full cheeks, prominent nasal tip, long philtrum, open, wide mouth, tented upper lip, thin upper lip, pointed chin; feeding difficulties, G-tube procedure refused; MRI severe cerebral atrophy and relatively milder cerebellar atrophy, preservation of deep gray matter structures, increased deep tendon reflexes" "" "" "" "" "" "" "" "" "NEDESBA" "severe syndromic intellectual disability" "" "0000233438" "00198" "00308015" "00006" "Familial, autosomal recessive" "17m" "see paper; ..., severe global developmental delay, spastic quadraplegia, no dystonia, no progressive scoliosis, 3m-4m epilepsy, no cortical visual impairment, no tracking, no impaired hearing, no visual tracking, head control, rolling over any other visual-motor function; facial dysmorphism, bitemporal narrowing, full cheeks, prominent nasal tip, long philtrum, open, wide mouth, tented upper lip, thin upper lip, pointed chin; feeding difficulties, G-tube procedure refused; no head control, no rolling over, no any other motor function, increased deep tendon reflexes" "" "" "" "" "" "" "" "" "NEDESBA" "severe syndromic intellectual disability" "" "0000233439" "00198" "00308016" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., severe global developmental delay, spastic quadraplegia, dystonia, progressive scoliosis, >11m epilepsy, optic atrophy, 4m-nystagmus, no impaired hearing; facial dysmorphism, bitemporal narrowing, full cheeks, prominent nasal tip, long philtrum, open, wide mouth, tented upper lip, thin upper lip, pointed chin, tooth discolouration; feeding difficulties, 3m-reflux after switching to formula, progressive loss of swallowing but died before G-tube; progressive contractures, hips became nearly fixed" "" "" "" "" "" "" "" "" "NEDESBA" "severe syndromic intellectual disability" "" "0000233440" "00198" "00308017" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe global developmental delay, developmental regression, spastic quadraplegia, dystonia, <1y-epilepsy; facial dysmorphism, bitemporal narrowing, full cheeks, prominent nasal tip, long philtrum, open, wide mouth, tented upper lip, thin upper lip, pointed chin; MRI cerebral atrophy; EEG showed frontal lobe spikes, abnormal movements, spacticity, contractures" "" "" "" "" "" "" "" "" "NEDESBA" "severe syndromic intellectual disability" "" "0000233441" "00198" "00307984" "03219" "Familial, autosomal recessive" "" "neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy" "" "" "" "" "" "" "" "" "" "" "" "0000238688" "00198" "00314931" "00006" "Familial, autosomal recessive" "02y03m" "see paper; progressive encephalopathy and muscle involvement, ..." "" "" "" "" "" "" "" "" "" "encephalopathy" "" "0000338988" "00139" "00449841" "03544" "Isolated (sporadic)" "" "HP:0001511, HP:0003202, HP:0008897, HP:0010864, HP:0000252, HP:0001257" "" "" "" "" "" "" "" "" "NEDESBA" "intellectual disability" "" ## 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}}" "0000307370" "00306235" "1" "03565" "03565" "2020-07-11 19:17:13" "" "" "SEQ-NG" "DNA" "" "" "0000309047" "00307905" "1" "03219" "03219" "2020-08-22 08:57:44" "" "" "SEQ-NG-I" "DNA" "" "" "0000309128" "00307984" "1" "03219" "03219" "2020-08-25 06:08:40" "" "" "SEQ-NG-I" "DNA" "" "" "0000309155" "00308011" "1" "00006" "00006" "2020-08-25 13:30:59" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000309156" "00308012" "1" "00006" "00006" "2020-08-25 13:30:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000309157" "00308013" "1" "00006" "00006" "2020-08-25 13:30:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000309158" "00308014" "1" "00006" "00006" "2020-08-25 13:30:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000309159" "00308015" "1" "00006" "00006" "2020-08-25 13:30:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000309160" "00308016" "1" "00006" "00006" "2020-08-25 13:30:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000309161" "00308017" "1" "00006" "00006" "2020-08-25 13:30:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000316105" "00314931" "1" "00006" "00006" "2020-10-21 10:27:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451437" "00449841" "1" "03544" "03544" "2024-05-17 07:47:04" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000307370" "TRAPPC4" "0000309047" "TRAPPC4" "0000309128" "TRAPPC4" "0000309155" "TRAPPC4" "0000309156" "TRAPPC4" "0000309157" "TRAPPC4" "0000309158" "TRAPPC4" "0000309159" "TRAPPC4" "0000309160" "TRAPPC4" "0000309161" "TRAPPC4" "0000316105" "TRAPPC4" ## 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 = 59 "{{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}}" "0000298305" "0" "30" "11" "118895962" "118895962" "subst" "0.00923969" "02325" "SLC37A4_000042" "g.118895962G>A" "" "" "" "SLC37A4(NM_001164277.1):c.1062C>T (p.(Asn354=), p.N354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119025252G>A" "" "likely benign" "" "0000298306" "0" "10" "11" "118898437" "118898437" "del" "0" "02325" "SLC37A4_000045" "g.118898437del" "" "" "" "SLC37A4(NM_001164277.1):c.527delG (p.C176Lfs*36), SLC37A4(NM_001164278.2):c.528delG (p.C176Wfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119027727del" "" "benign" "" "0000302236" "0" "10" "11" "118895962" "118895962" "subst" "0.00923969" "02326" "SLC37A4_000042" "g.118895962G>A" "" "" "" "SLC37A4(NM_001164277.1):c.1062C>T (p.(Asn354=), p.N354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119025252G>A" "" "benign" "" "0000302237" "0" "10" "11" "118899150" "118899150" "subst" "0.0179009" "02326" "SLC37A4_000047" "g.118899150T>C" "" "" "" "SLC37A4(NM_001164278.2):c.149-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119028440T>C" "" "benign" "" "0000302238" "0" "10" "11" "118898324" "118898324" "subst" "0.0179436" "02326" "SLC37A4_000044" "g.118898324G>A" "" "" "" "SLC37A4(NM_001164278.2):c.626+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119027614G>A" "" "benign" "" "0000308434" "0" "50" "11" "118896449" "118896449" "subst" "0.000712769" "01943" "SLC37A4_000043" "g.118896449G>C" "" "" "" "SLC37A4(NM_001164278.2):c.1004C>G (p.P335R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119025739G>C" "" "VUS" "" "0000308435" "0" "30" "11" "118899135" "118899135" "subst" "9.29449E-5" "01943" "SLC37A4_000046" "g.118899135C>A" "" "" "" "SLC37A4(NM_001164277.1):c.150G>T (p.G50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119028425C>A" "" "likely benign" "" "0000346458" "0" "50" "11" "118896407" "118896407" "subst" "5.70524E-5" "02327" "SLC37A4_000048" "g.118896407G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119025697G>A" "" "VUS" "" "0000542621" "0" "30" "11" "118895670" "118895670" "subst" "0.0002275" "01943" "SLC37A4_000049" "g.118895670G>A" "" "" "" "SLC37A4(NM_001164278.2):c.1307C>T (p.P436L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119024960G>A" "" "likely benign" "" "0000542622" "0" "30" "11" "118895670" "118895670" "subst" "0.0002275" "02326" "SLC37A4_000049" "g.118895670G>A" "" "" "" "SLC37A4(NM_001164278.2):c.1307C>T (p.P436L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119024960G>A" "" "likely benign" "" "0000542623" "0" "10" "11" "118896087" "118896087" "subst" "0.00307134" "02326" "SLC37A4_000050" "g.118896087G>A" "" "" "" "SLC37A4(NM_001164277.1):c.985-48C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119025377G>A" "" "benign" "" "0000542624" "0" "50" "11" "118897326" "118897326" "subst" "0.000225637" "02325" "SLC37A4_000051" "g.118897326C>T" "" "" "" "SLC37A4(NM_001164277.1):c.857G>A (p.R286Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119026616C>T" "" "VUS" "" "0000542625" "0" "30" "11" "118898370" "118898370" "subst" "0.00361609" "01943" "SLC37A4_000052" "g.118898370T>A" "" "" "" "SLC37A4(NM_001164277.1):c.593A>T (p.N198I, p.(Asn198Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119027660T>A" "" "likely benign" "" "0000542626" "0" "30" "11" "118898370" "118898370" "subst" "0.00361609" "02325" "SLC37A4_000052" "g.118898370T>A" "" "" "" "SLC37A4(NM_001164277.1):c.593A>T (p.N198I, p.(Asn198Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119027660T>A" "" "likely benign" "" "0000542627" "0" "30" "11" "118898370" "118898370" "subst" "0.00361609" "02326" "SLC37A4_000052" "g.118898370T>A" "" "" "" "SLC37A4(NM_001164277.1):c.593A>T (p.N198I, p.(Asn198Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119027660T>A" "" "likely benign" "" "0000542628" "0" "30" "11" "118898407" "118898407" "subst" "0.00015466" "01943" "SLC37A4_000053" "g.118898407G>A" "" "" "" "SLC37A4(NM_001164277.1):c.556C>T (p.L186F), SLC37A4(NM_001164277.2):c.556C>T (p.(Leu186Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119027697G>A" "" "likely benign" "" "0000613086" "0" "30" "11" "118898472" "118898472" "subst" "6.14925E-5" "01943" "SLC37A4_000055" "g.118898472G>A" "" "" "" "SLC37A4(NM_001164277.1):c.492C>T (p.S164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119027762G>A" "" "likely benign" "" "0000613087" "0" "50" "11" "118899043" "118899043" "subst" "7.64442E-5" "01943" "SLC37A4_000057" "g.118899043G>A" "" "" "" "SLC37A4(NM_001164277.1):c.242C>T (p.S81F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119028333G>A" "" "VUS" "" "0000622566" "0" "50" "11" "118895957" "118895957" "subst" "0.00110372" "01943" "SLC37A4_000054" "g.118895957C>G" "" "" "" "SLC37A4(NM_001164277.1):c.1067G>C (p.S356T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119025247C>G" "" "VUS" "" "0000622567" "0" "50" "11" "118898497" "118898497" "subst" "0.00163562" "01943" "SLC37A4_000056" "g.118898497G>A" "" "" "" "SLC37A4(NM_001164277.1):c.467C>T (p.A156V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119027787G>A" "" "VUS" "" "0000673996" "0" "90" "11" "118890966" "118890966" "subst" "0.000237133" "03565" "TRAPPC4_000001" "g.118890966A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000679073" "0" "30" "11" "118899102" "118899102" "subst" "0.0109887" "01804" "SLC37A4_000061" "g.118899102A>G" "" "" "" "SLC37A4(NM_001164277.1):c.183T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683497" "3" "70" "11" "118889955" "118889955" "subst" "4.06098E-6" "03219" "TRAPPC4_000002" "g.118889955C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.119019245C>T" "" "VUS" "ACMG" "0000683598" "3" "70" "11" "118889955" "118889955" "subst" "4.06098E-6" "03219" "TRAPPC4_000002" "g.118889955C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000683635" "3" "90" "11" "118890966" "118890966" "subst" "0.000237133" "00006" "TRAPPC4_000001" "g.118890966A>G" "" "{PMID:Van Bergen 2020:31794024}" "" "" "" "Germline" "yes" "" "0" "" "" "g.119020256A>G" "" "pathogenic (recessive)" "" "0000683636" "3" "90" "11" "118890966" "118890966" "subst" "0.000237133" "00006" "TRAPPC4_000001" "g.118890966A>G" "" "{PMID:Van Bergen 2020:31794024}" "" "" "" "Germline" "yes" "" "0" "" "" "g.119020256A>G" "" "pathogenic (recessive)" "" "0000683637" "3" "90" "11" "118890966" "118890966" "subst" "0.000237133" "00006" "TRAPPC4_000001" "g.118890966A>G" "" "{PMID:Van Bergen 2020:31794024}" "" "" "" "Germline" "yes" "" "0" "" "" "g.119020256A>G" "" "pathogenic (recessive)" "" "0000683638" "3" "90" "11" "118890966" "118890966" "subst" "0.000237133" "00006" "TRAPPC4_000001" "g.118890966A>G" "" "{PMID:Van Bergen 2020:31794024}" "" "" "" "Germline" "yes" "" "0" "" "" "g.119020256A>G" "" "pathogenic (recessive)" "" "0000683639" "3" "90" "11" "118890966" "118890966" "subst" "0.000237133" "00006" "TRAPPC4_000001" "g.118890966A>G" "" "{PMID:Van Bergen 2020:31794024}" "" "" "" "Germline" "yes" "" "0" "" "" "g.119020256A>G" "" "pathogenic (recessive)" "" "0000683640" "3" "90" "11" "118890966" "118890966" "subst" "0.000237133" "00006" "TRAPPC4_000001" "g.118890966A>G" "" "{PMID:Van Bergen 2020:31794024}" "" "" "" "Germline" "yes" "" "0" "" "" "g.119020256A>G" "" "pathogenic (recessive)" "" "0000683641" "3" "90" "11" "118890966" "118890966" "subst" "0.000237133" "00006" "TRAPPC4_000001" "g.118890966A>G" "" "{PMID:Van Bergen 2020:31794024}" "" "" "" "Germline" "yes" "" "0" "" "" "g.119020256A>G" "" "pathogenic (recessive)" "" "0000690958" "0" "10" "11" "118895632" "118895632" "subst" "0.00398118" "01804" "SLC37A4_000058" "g.118895632C>T" "" "" "" "SLC37A4(NM_001164277.1):c.1278G>A (p.(Lys426=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690959" "0" "10" "11" "118895962" "118895962" "subst" "0.00923969" "01804" "SLC37A4_000042" "g.118895962G>A" "" "" "" "SLC37A4(NM_001164277.1):c.1062C>T (p.(Asn354=), p.N354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690960" "0" "30" "11" "118898370" "118898370" "subst" "0.00361609" "01804" "SLC37A4_000052" "g.118898370T>A" "" "" "" "SLC37A4(NM_001164277.1):c.593A>T (p.N198I, p.(Asn198Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698245" "3" "90" "11" "118890966" "118890966" "subst" "0.000237133" "00006" "TRAPPC4_000001" "g.118890966A>G" "" "{PMID:Kaur 2020:32125366}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000723254" "0" "50" "11" "118895687" "118895687" "subst" "0" "01943" "TRAPPC4_000003" "g.118895687G>A" "" "" "" "SLC37A4(NM_001164277.1):c.1223C>T (p.T408M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804921" "0" "30" "11" "118894023" "118894023" "subst" "0.00190077" "01943" "CCDC84_000002" "g.118894023C>T" "" "" "" "TRAPPC4(NM_001318492.1):c.267-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804922" "0" "50" "11" "118897644" "118897644" "subst" "4.07425E-6" "01943" "TRAPPC4_000004" "g.118897644T>C" "" "" "" "SLC37A4(NM_001164277.1):c.784+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852786" "0" "50" "11" "118897326" "118897326" "subst" "0.000225637" "01943" "SLC37A4_000051" "g.118897326C>T" "" "" "" "SLC37A4(NM_001164277.1):c.857G>A (p.R286Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862331" "0" "10" "11" "118895635" "118895635" "subst" "0.00570254" "02326" "SLC37A4_000059" "g.118895635G>A" "" "" "" "SLC37A4(NM_001164277.1):c.1275C>T (p.S425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862332" "0" "30" "11" "118898497" "118898497" "subst" "0.00163562" "02326" "SLC37A4_000056" "g.118898497G>A" "" "" "" "SLC37A4(NM_001164277.1):c.467C>T (p.A156V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889655" "0" "30" "11" "118895957" "118895957" "subst" "0.00110372" "02326" "SLC37A4_000054" "g.118895957C>G" "" "" "" "SLC37A4(NM_001164277.1):c.1067G>C (p.S356T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889656" "0" "10" "11" "118896430" "118896430" "subst" "0.0029455" "02327" "TRAPPC4_000005" "g.118896430G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889657" "0" "50" "11" "118897719" "118897719" "subst" "0" "02327" "TRAPPC4_000006" "g.118897719C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929807" "0" "50" "11" "118895624" "118895624" "subst" "0.000114096" "02325" "TRAPPC4_000007" "g.118895624T>G" "" "" "" "SLC37A4(NM_001164277.1):c.1286A>C (p.E429A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949599" "0" "90" "11" "118895981" "118895982" "del" "0.000176678" "02329" "SLC37A4_000065" "g.118895981_118895982del" "" "" "" "SLC37A4(NM_001164277.1):c.1042_1043delCT (p.(Leu348fs)), SLC37A4(NM_001164277.1):c.1042_1043delCT (p.L348Vfs*53)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949600" "0" "30" "11" "118898497" "118898497" "subst" "0.00163562" "02325" "SLC37A4_000056" "g.118898497G>A" "" "" "" "SLC37A4(NM_001164277.1):c.467C>T (p.A156V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966196" "0" "30" "11" "118898437" "118898437" "del" "0" "02326" "SLC37A4_000045" "g.118898437del" "" "" "" "SLC37A4(NM_001164277.1):c.527delG (p.C176Lfs*36), SLC37A4(NM_001164278.2):c.528delG (p.C176Wfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979388" "0" "50" "11" "118889889" "118889889" "subst" "0" "01804" "CCDC84_000003" "g.118889889T>G" "" "" "" "TRAPPC4(NM_016146.6):c.212T>G (p.(Val71Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979389" "0" "70" "11" "118895925" "118895925" "subst" "4.89201E-5" "01804" "SLC37A4_000017" "g.118895925C>T" "" "" "" "SLC37A4(NM_001164277.2):c.1099G>A (p.(Ala367Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000979390" "0" "50" "11" "118898407" "118898407" "subst" "0.00015466" "01804" "SLC37A4_000053" "g.118898407G>A" "" "" "" "SLC37A4(NM_001164277.1):c.556C>T (p.L186F), SLC37A4(NM_001164277.2):c.556C>T (p.(Leu186Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985324" "21" "70" "11" "118889528" "118889529" "del" "0" "03544" "TRAPPC4_000008" "g.118889528_118889529del" "" "" "" "" "" "Germline" "yes" "rs781880480" "0" "" "" "g.119018818_119018819del" "{CV:3378415}" "likely pathogenic (recessive)" "ACMG" "0000985325" "11" "70" "11" "118890966" "118890966" "subst" "0.000237133" "03544" "TRAPPC4_000001" "g.118890966A>G" "" "" "" "" "" "Germline" "yes" "rs375776811" "0" "" "" "g.119020256A>G" "" "likely pathogenic (recessive)" "ACMG" "0000998806" "0" "50" "11" "118895751" "118895751" "subst" "8.12341E-5" "01804" "TRAPPC4_000009" "g.118895751T>C" "" "" "" "SLC37A4(NM_001164277.1):c.1159A>G (p.(Ile387Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998807" "0" "70" "11" "118895981" "118895982" "del" "0.000176678" "01804" "SLC37A4_000065" "g.118895981_118895982del" "" "" "" "SLC37A4(NM_001164277.1):c.1042_1043delCT (p.(Leu348fs)), SLC37A4(NM_001164277.1):c.1042_1043delCT (p.L348Vfs*53)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000998808" "0" "70" "11" "118896009" "118896009" "subst" "7.46479E-5" "01804" "SLC37A4_000011" "g.118896009C>A" "" "" "" "SLC37A4(NM_001164278.1):c.1081G>T (p.(Gly361Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001038267" "0" "50" "11" "118898975" "118898975" "subst" "8.45616E-6" "01804" "TRAPPC4_000010" "g.118898975C>T" "" "" "" "SLC37A4(NM_001164277.2):c.310G>A (p.(Ala104Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046288" "0" "50" "11" "118896012" "118896012" "subst" "0.000418757" "02325" "TRAPPC4_000011" "g.118896012A>G" "" "" "" "SLC37A4(NM_001164277.1):c.1012T>C (p.F338L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046289" "0" "30" "11" "118898370" "118898370" "subst" "0.00361609" "02327" "SLC37A4_000052" "g.118898370T>A" "" "" "" "SLC37A4(NM_001164277.1):c.593A>T (p.N198I, p.(Asn198Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TRAPPC4 ## Count = 59 "{{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}}" "0000298305" "00021759" "30" "2513" "0" "2513" "0" "c.*1853G>A" "r.(=)" "p.(=)" "" "0000298306" "00021759" "10" "4988" "0" "4988" "0" "c.*4328del" "r.(?)" "p.(=)" "" "0000302236" "00021759" "10" "2513" "0" "2513" "0" "c.*1853G>A" "r.(=)" "p.(=)" "" "0000302237" "00021759" "10" "5701" "0" "5701" "0" "c.*5041T>C" "r.(=)" "p.(=)" "" "0000302238" "00021759" "10" "4875" "0" "4875" "0" "c.*4215G>A" "r.(=)" "p.(=)" "" "0000308434" "00021759" "50" "3000" "0" "3000" "0" "c.*2340G>C" "r.(=)" "p.(=)" "" "0000308435" "00021759" "30" "5686" "0" "5686" "0" "c.*5026C>A" "r.(=)" "p.(=)" "" "0000346458" "00021759" "50" "2958" "0" "2958" "0" "c.*2298G>A" "r.(=)" "p.(=)" "" "0000542621" "00021759" "30" "2221" "0" "2221" "0" "c.*1561G>A" "r.(=)" "p.(=)" "" "0000542622" "00021759" "30" "2221" "0" "2221" "0" "c.*1561G>A" "r.(=)" "p.(=)" "" "0000542623" "00021759" "10" "2638" "0" "2638" "0" "c.*1978G>A" "r.(=)" "p.(=)" "" "0000542624" "00021759" "50" "3877" "0" "3877" "0" "c.*3217C>T" "r.(=)" "p.(=)" "" "0000542625" "00021759" "30" "4921" "0" "4921" "0" "c.*4261T>A" "r.(=)" "p.(=)" "" "0000542626" "00021759" "30" "4921" "0" "4921" "0" "c.*4261T>A" "r.(=)" "p.(=)" "" "0000542627" "00021759" "30" "4921" "0" "4921" "0" "c.*4261T>A" "r.(=)" "p.(=)" "" "0000542628" "00021759" "30" "4958" "0" "4958" "0" "c.*4298G>A" "r.(=)" "p.(=)" "" "0000613086" "00021759" "30" "5023" "0" "5023" "0" "c.*4363G>A" "r.(=)" "p.(=)" "" "0000613087" "00021759" "50" "5594" "0" "5594" "0" "c.*4934G>A" "r.(=)" "p.(=)" "" "0000622566" "00021759" "50" "2508" "0" "2508" "0" "c.*1848C>G" "r.(=)" "p.(=)" "" "0000622567" "00021759" "50" "5048" "0" "5048" "0" "c.*4388G>A" "r.(=)" "p.(=)" "" "0000673996" "00021759" "90" "454" "3" "454" "3" "c.454+3A>G" "r.spl?" "p.?" "" "0000679073" "00021759" "30" "5653" "0" "5653" "0" "c.*4993A>G" "r.(=)" "p.(=)" "" "0000683497" "00021759" "70" "278" "0" "278" "0" "c.278C>T" "r.(?)" "p.(Pro93Leu)" "2" "0000683598" "00021759" "70" "278" "0" "278" "0" "c.278C>T" "r.(?)" "p.(Pro93Leu)" "2" "0000683635" "00021759" "90" "454" "3" "454" "3" "c.454+3A>G" "r.351_454del" "p.Leu120Aspfs*9" "3i" "0000683636" "00021759" "90" "454" "3" "454" "3" "c.454+3A>G" "r.spl" "p.(Leu120Aspfs*9)" "3i" "0000683637" "00021759" "90" "454" "3" "454" "3" "c.454+3A>G" "r.spl" "p.(Leu120Aspfs*9)" "3i" "0000683638" "00021759" "90" "454" "3" "454" "3" "c.454+3A>G" "r.spl" "p.(Leu120Aspfs*9)" "3i" "0000683639" "00021759" "90" "454" "3" "454" "3" "c.454+3A>G" "r.spl" "p.(Leu120Aspfs*9)" "3i" "0000683640" "00021759" "90" "454" "3" "454" "3" "c.454+3A>G" "r.spl" "p.(Leu120Aspfs*9)" "3i" "0000683641" "00021759" "90" "454" "3" "454" "3" "c.454+3A>G" "r.spl" "p.(Leu120Aspfs*9)" "3i" "0000690958" "00021759" "10" "2183" "0" "2183" "0" "c.*1523C>T" "r.(=)" "p.(=)" "" "0000690959" "00021759" "10" "2513" "0" "2513" "0" "c.*1853G>A" "r.(=)" "p.(=)" "" "0000690960" "00021759" "30" "4921" "0" "4921" "0" "c.*4261T>A" "r.(=)" "p.(=)" "" "0000698245" "00021759" "90" "454" "3" "454" "3" "c.454+3A>G" "r.spl" "p.?" "" "0000723254" "00021759" "50" "2238" "0" "2238" "0" "c.*1578G>A" "r.(=)" "p.(=)" "" "0000804921" "00021759" "30" "582" "-8" "582" "-8" "c.582-8C>T" "r.(=)" "p.(=)" "" "0000804922" "00021759" "50" "4195" "0" "4195" "0" "c.*3535T>C" "r.(=)" "p.(=)" "" "0000852786" "00021759" "50" "3877" "0" "3877" "0" "c.*3217C>T" "r.(=)" "p.(=)" "" "0000862331" "00021759" "10" "2186" "0" "2186" "0" "c.*1526G>A" "r.(=)" "p.(=)" "" "0000862332" "00021759" "30" "5048" "0" "5048" "0" "c.*4388G>A" "r.(=)" "p.(=)" "" "0000889655" "00021759" "30" "2508" "0" "2508" "0" "c.*1848C>G" "r.(=)" "p.(=)" "" "0000889656" "00021759" "10" "2981" "0" "2981" "0" "c.*2321G>A" "r.(=)" "p.(=)" "" "0000889657" "00021759" "50" "4270" "0" "4270" "0" "c.*3610C>G" "r.(=)" "p.(=)" "" "0000929807" "00021759" "50" "2175" "0" "2175" "0" "c.*1515T>G" "r.(=)" "p.(=)" "" "0000949599" "00021759" "90" "2532" "0" "2533" "0" "c.*1872_*1873del" "r.(=)" "p.(=)" "" "0000949600" "00021759" "30" "5048" "0" "5048" "0" "c.*4388G>A" "r.(=)" "p.(=)" "" "0000966196" "00021759" "30" "4988" "0" "4988" "0" "c.*4328del" "r.(?)" "p.(=)" "" "0000979388" "00021759" "50" "212" "0" "212" "0" "c.212T>G" "r.(?)" "p.(Val71Gly)" "" "0000979389" "00021759" "70" "2476" "0" "2476" "0" "c.*1816C>T" "r.(=)" "p.(=)" "" "0000979390" "00021759" "50" "4958" "0" "4958" "0" "c.*4298G>A" "r.(=)" "p.(=)" "" "0000985324" "00021759" "70" "23" "0" "24" "0" "c.23_24del" "r.(?)" "p.(Val8Glyfs*19)" "1" "0000985325" "00021759" "70" "454" "3" "454" "3" "c.454+3A>G" "r.spl?" "p.?" "" "0000998806" "00021759" "50" "2302" "0" "2302" "0" "c.*1642T>C" "r.(=)" "p.(=)" "" "0000998807" "00021759" "70" "2532" "0" "2533" "0" "c.*1872_*1873del" "r.(=)" "p.(=)" "" "0000998808" "00021759" "70" "2560" "0" "2560" "0" "c.*1900C>A" "r.(=)" "p.(=)" "" "0001038267" "00021759" "50" "5526" "0" "5526" "0" "c.*4866C>T" "r.(=)" "p.(=)" "" "0001046288" "00021759" "50" "2563" "0" "2563" "0" "c.*1903A>G" "r.(=)" "p.(=)" "" "0001046289" "00021759" "30" "4921" "0" "4921" "0" "c.*4261T>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000307370" "0000673996" "0000309047" "0000683497" "0000309128" "0000683598" "0000309155" "0000683635" "0000309156" "0000683636" "0000309157" "0000683637" "0000309158" "0000683638" "0000309159" "0000683639" "0000309160" "0000683640" "0000309161" "0000683641" "0000316105" "0000698245" "0000451437" "0000985324" "0000451437" "0000985325"