### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRAPPC9) # 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}}" "TRAPPC9" "trafficking protein particle complex 9" "8" "q24.3" "unknown" "NG_016478.2" "UD_132118684787" "" "https://www.LOVD.nl/TRAPPC9" "" "1" "30832" "83696" "611966" "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/TRAPPC9_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2017-06-26 12:37:33" "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}}" "00025713" "TRAPPC9" "transcript variant 2" "003" "NM_001160372.1" "" "NP_001153844.1" "" "" "" "-134" "4165" "3447" "141467861" "140742586" "00006" "2022-06-27 15:07:22" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "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" "00801" "MRT13" "mental retardation, autosomal recessive, type 13" "AR" "613192" "" "hypoplastic supraorbital ridges; global developmental delay (HP:0001263); intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); no short stature (-HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); tapering fingers, stereotypies, MRI changes (cerebral and cerebellar atrophy, thin corpus callosum, and multifocal supratentorial white matter abnormalities)" "" "00006" "2014-09-25 23:29:40" "00006" "2023-01-03 20:52:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04147" "MRT" "mental retardation, autosomal recessive (MRT, intellectual disability (IDT))" "" "" "" "autosomal recessive" "" "00006" "2014-10-11 12:21:35" "00006" "2018-12-18 09:25:11" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TRAPPC9" "00139" "TRAPPC9" "00801" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00050367" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00080804" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected heterozygous carrier mother" "" "" "" "" "0" "" "" "" "" "00105899" "" "" "" "3" "" "01971" "Mortreux et al., submitted" "2-generation family, 3 affected (1M, 2F), unaffected heterozygous carrier parents" "F" "yes" "Tunisia" ">30y" "0" "Yes" "Supportive" "Arab" "TRAPPC9-Patient1" "00294575" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294576" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294577" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294578" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294579" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294580" "" "" "" "24" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307979" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "simplex case" "M" "" "" "" "0" "" "" "" "17DG0781" "00361639" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "12DG2139" "00387752" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "" "" "0" "" "" "Arab" "M294" "00412313" "" "" "" "1" "" "01164" "" "" "F" "yes" "Syria" "" "0" "" "" "" "200577" "00414555" "" "" "" "1" "cc_by-nc-nd_4.0;1" "01343" "{PMID:Uctepe 2023:38058760}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "Pat2" "00433359" "" "" "" "3" "" "00006" "{PMID:Duerinckx 2018:29693325}, {PMID:Duerinckx 2021: 34402213}" "2-generation family, affected sister/brother" "F" "yes" "Morocco" "" "0" "" "" "" "FamPatII1/3;Pat28" "00433370" "" "" "00433359" "1" "" "00006" "{PMID:Duerinckx 2018:29693325}" "unaffected sister" "F" "yes" "Morocco" "" "0" "" "" "" "FamPatII2" "00440435" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2274.1" "00460329" "" "" "" "1" "" "01343" "{PMID:Uctepe 2023:38058760}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00050367" "00198" "00080804" "00801" "00105899" "00801" "00294575" "00198" "00294576" "00198" "00294577" "00198" "00294578" "00198" "00294579" "00198" "00294580" "00198" "00307979" "00139" "00361639" "00139" "00387752" "00139" "00412313" "00801" "00414555" "04147" "00433359" "05421" "00433370" "00000" "00440435" "00198" "00460329" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00801, 01157, 04147, 05421 ## Count = 12 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000036979" "00198" "00050367" "00006" "Unknown" "" "apneic episodes in infancy, tachypnea episodic, muscular hypotonia, recurrent viral infections, motor delay, strabismus, constipation" "" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000060373" "00801" "00080804" "01758" "Familial, autosomal recessive" "" "Mental retardation, autosomal recessive 13 (OMIM:613192)" "" "" "" "" "" "" "" "" "" "" "" "" "0000083799" "00801" "00105899" "01971" "Familial, autosomal recessive" "30y" "Intellectual disability (HP:0001249); truncal obesity (HP:0001956); no neutropenia (HP:0001875)" "00y06m" "" "" "" "" "" "" "" "" "" "" "" "0000233402" "00139" "00307979" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., Intellectual disability, Broad-based gait, Microcephaly, Periventricular leukomalacia, Bilateral coxa valga, Skeletal dysplasia" "" "" "" "" "" "" "" "" "" "" "intellectual diability" "" "0000257044" "00139" "00361639" "00006" "Familial, autosomal recessive" "4y6m" "syndromic; intellectual disability, progressive microcephaly, dysmorphism, hand flapping motions" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281320" "00139" "00387752" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000304318" "00801" "00412313" "01164" "Familial, autosomal recessive" "10y" "Microcephaly, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Short stature, Pain insensitivity, Neurodevelopmental delay, Posterior atrophy of corpus callosum, Self-injurious behavior" "" "" "" "" "" "" "" "" "" "" "" "" "0000323880" "05421" "00433359" "00006" "Familial, autosomal recessive" "13y" "primary microcephaly, hyperkinesia; OFC (SD-4), weigth (SD-1), length (SD-2); 8y-generalized, tonic‐clonic, treatment VPA; severe intellectual disability, no speech; MRI atrophy of the corpus callosum and cerebellum, abnormal signals in the supratentorial white matter; OFC (SD-4), weigth (SD-1), length (SD-2); 8y-generalized, tonic‐clonic, treatment VPA; severe intellectual disability, no speech; MRI atrophy of the corpus callosum and cerebellum, abnormal signals in the supratentorial white matter" "" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000330345" "00198" "00440435" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Autosomal recessive mental retardation-13 (MIM #613192)" "" "" "0000348060" "04147" "00414555" "01343" "Familial, autosomal recessive" "11y" "see paper; ..., intellectual disability, autistic features" "" "" "" "" "" "" "" "" "" "MRT13" "intellectual disability" "" "0000348061" "00139" "00460329" "01343" "Familial, autosomal recessive" "09y" "see paper; ..., 3.9y-microcephali, intellectual disability, motor retardation; round face, full cheeks, thin upper lip, ptosis; spasticity left ankle" "" "" "" "" "" "" "" "" "" "MRT13" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000050312" "00050367" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000080916" "00080804" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000106368" "00105899" "1" "01971" "01971" "2017-06-25 15:33:42" "" "" "SEQ-NG" "DNA" "" "" "0000295743" "00294575" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295744" "00294576" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295745" "00294577" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295746" "00294578" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295747" "00294579" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295748" "00294580" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309123" "00307979" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical WES" "0000362867" "00361639" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" "0000388983" "00387752" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000413585" "00412313" "1" "01164" "01164" "2022-06-27 14:52:37" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000415836" "00414555" "1" "01343" "" "2022-07-29 11:11:17" "00006" "2025-01-23 12:30:25" "SEQ-NG" "DNA" "" "WES" "0000434813" "00433359" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000434824" "00433370" "1" "00006" "00006" "2023-03-06 15:07:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441920" "00440435" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461961" "00460329" "1" "01343" "00006" "2025-01-23 12:43:22" "00006" "2025-01-23 13:00:51" "arrayCGH;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000050312" "NALCN" "0000050312" "TRAPPC9" "0000080916" "TRAPPC9" "0000309123" "TRAPPC9" "0000362867" "TRAPPC9" "0000388983" "TRAPPC9" "0000413585" "TRAPPC9" "0000461961" "TRAPPC9" ## 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 = 82 "{{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}}" "0000004676" "3" "50" "8" "141288769" "141288769" "subst" "0" "00037" "TRAPPC9_000001" "g.141288769C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.140278670C>T" "" "VUS" "" "0000079644" "21" "90" "8" "141321437" "141321437" "subst" "2.43813E-5" "00006" "TRAPPC9_000002" "g.141321437G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.140311338G>A" "" "pathogenic" "" "0000079645" "11" "90" "8" "141445217" "141445217" "subst" "0.000483359" "00006" "TRAPPC9_000003" "g.141445217G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.140435118G>A" "" "pathogenic" "" "0000129999" "21" "90" "8" "141407724" "141407724" "subst" "1.21836E-5" "01758" "TRAPPC9_000004" "g.141407724G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.140397625G>A" "" "pathogenic" "ACMG" "0000130000" "11" "70" "8" "140744447" "140744447" "subst" "0" "01758" "TRAPPC9_000005" "g.140744447T>C" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.139732204T>C" "" "likely pathogenic" "ACMG" "0000171966" "3" "90" "8" "141370230" "141370230" "subst" "2.84243E-5" "01971" "TRAPPC9_000006" "g.141370230G>A" "" "" "" "NM_031466.5:c.1708C>T" "" "Germline" "yes" "" "0" "" "" "g.140360131G>A" "" "pathogenic" "" "0000248599" "0" "10" "8" "141461074" "141461074" "subst" "0.0706377" "02325" "TRAPPC9_000020" "g.141461074A>G" "" "" "" "TRAPPC9(NM_031466.8):c.399T>C (p.A133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140450975A>G" "" "benign" "" "0000248600" "0" "10" "8" "141461185" "141461185" "subst" "0.540123" "02325" "TRAPPC9_000023" "g.141461185A>G" "" "" "" "TRAPPC9(NM_031466.8):c.288T>C (p.F96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140451086A>G" "" "benign" "" "0000248601" "0" "10" "8" "141461266" "141461266" "subst" "0.539492" "02325" "TRAPPC9_000026" "g.141461266A>G" "" "" "" "TRAPPC9(NM_031466.8):c.207T>C (p.G69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140451167A>G" "" "benign" "" "0000249124" "0" "10" "8" "141034189" "141034189" "subst" "0" "02325" "TRAPPC9_000014" "g.141034189A>T" "" "" "" "TRAPPC9(NM_031466.8):c.2557-13T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140024092A>T" "" "benign" "" "0000256475" "0" "50" "8" "140743337" "140743337" "subst" "0.000891861" "01943" "TRAPPC9_000007" "g.140743337A>C" "" "" "" "TRAPPC9(NM_031466.6):c.3708T>G (p.S1236R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139731094A>C" "" "VUS" "" "0000312026" "0" "50" "8" "141301129" "141301129" "subst" "1.21821E-5" "02325" "TRAPPC9_000018" "g.141301129T>C" "" "" "" "TRAPPC9(NM_031466.8):c.1817A>G (p.Y606C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140291030T>C" "" "VUS" "" "0000312027" "0" "30" "8" "140744376" "140744376" "subst" "0.000267593" "02325" "TRAPPC9_000010" "g.140744376C>T" "" "" "" "TRAPPC9(NM_031466.8):c.3125G>A (p.R1042H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139732133C>T" "" "likely benign" "" "0000312028" "0" "10" "8" "141461116" "141461116" "subst" "0.0706521" "02325" "TRAPPC9_000022" "g.141461116C>T" "" "" "" "TRAPPC9(NM_031466.8):c.357G>A (p.G119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140451017C>T" "" "benign" "" "0000312029" "0" "50" "8" "141449268" "141449268" "subst" "0" "02325" "TRAPPC9_000034" "g.141449268T>C" "" "" "" "TRAPPC9(NM_031466.8):c.613A>G (p.M205V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140439169T>C" "" "VUS" "" "0000314818" "0" "90" "8" "141461483" "141461483" "subst" "0" "02326" "TRAPPC9_000028" "g.141461483C>T" "" "" "" "TRAPPC9(NM_031466.6):c.285-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140451384C>T" "" "pathogenic" "" "0000317014" "0" "30" "8" "141381250" "141381250" "subst" "0.00115169" "01943" "TRAPPC9_000019" "g.141381250G>A" "" "" "" "TRAPPC9(NM_031466.6):c.1458C>T (p.Y486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140371151G>A" "" "likely benign" "" "0000317015" "0" "30" "8" "141468477" "141468477" "subst" "0.00077425" "01943" "TRAPPC9_000030" "g.141468477T>C" "" "" "" "TRAPPC9(NM_031466.6):c.187A>G (p.R63G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140458378T>C" "" "likely benign" "" "0000317016" "0" "30" "8" "141297789" "141297789" "subst" "9.7473E-5" "01943" "TRAPPC9_000017" "g.141297789C>T" "" "" "" "TRAPPC9(NM_031466.6):c.2193G>A (p.A731=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140287690C>T" "" "likely benign" "" "0000317017" "0" "50" "8" "141297730" "141297730" "subst" "0.000105585" "01943" "TRAPPC9_000016" "g.141297730G>A" "" "" "" "TRAPPC9(NM_031466.6):c.2252C>T (p.T751M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140287631G>A" "" "VUS" "" "0000317018" "0" "50" "8" "141294071" "141294071" "subst" "3.65461E-5" "01943" "TRAPPC9_000015" "g.141294071G>C" "" "" "" "TRAPPC9(NM_031466.6):c.2325C>G (p.N775K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140283972G>C" "" "VUS" "" "0000317019" "0" "30" "8" "141034075" "141034075" "subst" "0.000231461" "01943" "TRAPPC9_000013" "g.141034075C>T" "" "" "" "TRAPPC9(NM_001321646.1):c.2631G>A (p.P877=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140023978C>T" "" "likely benign" "" "0000317020" "0" "50" "8" "140744403" "140744403" "subst" "0" "01943" "TRAPPC9_000011" "g.140744403G>A" "" "" "" "TRAPPC9(NM_001321646.1):c.3071C>T (p.A1024V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139732160G>A" "" "VUS" "" "0000317021" "0" "30" "8" "141461333" "141461333" "subst" "0.000345714" "01943" "TRAPPC9_000027" "g.141461333C>T" "" "" "" "TRAPPC9(NM_031466.6):c.434G>A (p.R145Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140451234C>T" "" "likely benign" "" "0000332324" "0" "50" "8" "140744353" "140744353" "subst" "0.000335433" "01804" "TRAPPC9_000009" "g.140744353G>A" "" "" "" "TRAPPC9(NM_001160372.1):c.3148C>T (p.(Arg1050Trp)), TRAPPC9(NM_001321646.1):c.3121C>T (p.R1041W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.139732110G>A" "" "VUS" "" "0000332326" "0" "50" "8" "141445265" "141445265" "subst" "0.000129963" "01804" "TRAPPC9_000046" "g.141445265G>A" "" "" "" "TRAPPC9(NM_001160372.1):c.805C>T (p.(Arg269Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140435166G>A" "" "VUS" "" "0000332327" "0" "30" "8" "141461079" "141461079" "subst" "4.06108E-6" "01804" "TRAPPC9_000021" "g.141461079C>T" "" "" "" "TRAPPC9(NM_001160372.1):c.394G>A (p.(Val132Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140450980C>T" "" "likely benign" "" "0000332328" "0" "50" "8" "141461189" "141461189" "subst" "0.000576715" "01804" "TRAPPC9_000024" "g.141461189G>A" "" "" "" "TRAPPC9(NM_001160372.1):c.284C>T (p.(Thr95Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140451090G>A" "" "VUS" "" "0000339435" "0" "10" "8" "141460918" "141460918" "subst" "0.0700502" "02327" "TRAPPC9_000033" "g.141460918C>T" "" "" "" "TRAPPC9(NM_031466.8):c.555G>A (p.K185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140450819C>T" "" "benign" "" "0000339436" "0" "10" "8" "141461074" "141461074" "subst" "0.0706377" "02327" "TRAPPC9_000020" "g.141461074A>G" "" "" "" "TRAPPC9(NM_031466.8):c.399T>C (p.A133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140450975A>G" "" "benign" "" "0000339437" "0" "10" "8" "141461116" "141461116" "subst" "0.0706521" "02327" "TRAPPC9_000022" "g.141461116C>T" "" "" "" "TRAPPC9(NM_031466.8):c.357G>A (p.G119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140451017C>T" "" "benign" "" "0000339438" "0" "10" "8" "141461185" "141461185" "subst" "0.540123" "02327" "TRAPPC9_000023" "g.141461185A>G" "" "" "" "TRAPPC9(NM_031466.8):c.288T>C (p.F96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140451086A>G" "" "benign" "" "0000339439" "0" "10" "8" "141461266" "141461266" "subst" "0.539492" "02327" "TRAPPC9_000026" "g.141461266A>G" "" "" "" "TRAPPC9(NM_031466.8):c.207T>C (p.G69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140451167A>G" "" "benign" "" "0000350919" "0" "10" "8" "141034189" "141034189" "subst" "0" "02327" "TRAPPC9_000014" "g.141034189A>T" "" "" "" "TRAPPC9(NM_031466.8):c.2557-13T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140024092A>T" "" "benign" "" "0000533843" "0" "50" "8" "140744353" "140744353" "subst" "0.000335433" "01943" "TRAPPC9_000009" "g.140744353G>A" "" "" "" "TRAPPC9(NM_001160372.1):c.3148C>T (p.(Arg1050Trp)), TRAPPC9(NM_001321646.1):c.3121C>T (p.R1041W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139732110G>A" "" "VUS" "" "0000533844" "0" "30" "8" "140922548" "140922548" "subst" "0.000667073" "01804" "TRAPPC9_000035" "g.140922548C>T" "" "" "" "TRAPPC9(NM_001160372.1):c.2811-4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139910304C>T" "" "likely benign" "" "0000533845" "0" "10" "8" "140998945" "140998945" "subst" "0.095824" "02325" "TRAPPC9_000036" "g.140998945G>A" "" "" "" "TRAPPC9(NM_031466.8):c.2799C>T (p.G933=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139988737G>A" "" "benign" "" "0000533847" "0" "50" "8" "141034062" "141034062" "subst" "0.000138072" "01804" "TRAPPC9_000038" "g.141034062T>G" "" "" "" "TRAPPC9(NM_001160372.1):c.2671A>C (p.(Thr891Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140023965T>G" "" "VUS" "" "0000533848" "0" "30" "8" "141231639" "141231639" "subst" "4.06091E-6" "01943" "TRAPPC9_000039" "g.141231639C>T" "" "" "" "TRAPPC9(NM_001321646.1):c.2448G>A (p.R816=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140221540C>T" "" "likely benign" "" "0000533849" "0" "30" "8" "141262966" "141262966" "subst" "1.62553E-5" "01943" "TRAPPC9_000040" "g.141262966G>T" "" "" "" "TRAPPC9(NM_001321646.1):c.2314C>A (p.Q772K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140252867G>T" "" "likely benign" "" "0000533850" "0" "30" "8" "141310597" "141310597" "subst" "0" "01804" "TRAPPC9_000041" "g.141310597T>C" "" "" "" "TRAPPC9(NM_001160372.1):c.1739A>G (p.(Asn580Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140300498T>C" "" "likely benign" "" "0000533851" "0" "10" "8" "141310644" "141310644" "subst" "0.275044" "02325" "TRAPPC9_000042" "g.141310644G>A" "" "" "" "TRAPPC9(NM_031466.8):c.1692C>T (p.N564=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140300545G>A" "" "benign" "" "0000533852" "0" "30" "8" "141381088" "141381088" "subst" "0.00102993" "01943" "TRAPPC9_000043" "g.141381088C>T" "" "" "" "TRAPPC9(NM_001321646.1):c.1299G>A (p.S433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140370989C>T" "" "likely benign" "" "0000533853" "0" "30" "8" "141381277" "141381277" "subst" "8.53177E-6" "01943" "TRAPPC9_000044" "g.141381277A>G" "" "" "" "TRAPPC9(NM_001321646.1):c.1110T>C (p.L370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140371178A>G" "" "likely benign" "" "0000533855" "0" "50" "8" "141407834" "141407834" "subst" "0.000442783" "01943" "TRAPPC9_000045" "g.141407834G>A" "" "" "" "TRAPPC9(NM_001160372.4):c.1019C>T (p.(Ala340Val)), TRAPPC9(NM_001321646.1):c.992C>T (p.A331V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140397735G>A" "" "VUS" "" "0000533856" "0" "10" "8" "141445373" "141445393" "del" "0" "02325" "TRAPPC9_000047" "g.141445373_141445393del" "" "" "" "TRAPPC9(NM_031466.8):c.731-31_731-11delGGTTTTTGTTTTTTGTTTTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140435274_140435294del" "" "benign" "" "0000533857" "0" "10" "8" "141460918" "141460918" "subst" "0.0700502" "02325" "TRAPPC9_000033" "g.141460918C>T" "" "" "" "TRAPPC9(NM_031466.8):c.555G>A (p.K185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140450819C>T" "" "benign" "" "0000533858" "0" "10" "8" "141461017" "141461017" "subst" "0.0109141" "02325" "TRAPPC9_000048" "g.141461017G>A" "" "" "" "TRAPPC9(NM_031466.8):c.456C>T (p.I152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140450918G>A" "" "benign" "" "0000533859" "0" "90" "8" "141461141" "141461144" "del" "0" "02327" "TRAPPC9_000049" "g.141461141_141461144del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140451042_140451045del" "" "pathogenic" "" "0000533862" "0" "50" "8" "141461337" "141461337" "subst" "7.321E-5" "01943" "TRAPPC9_000052" "g.141461337C>T" "" "" "" "TRAPPC9(NM_001321646.1):c.136G>A (p.V46M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140451238C>T" "" "VUS" "" "0000533863" "0" "50" "8" "141461409" "141461409" "subst" "4.18417E-6" "01943" "TRAPPC9_000053" "g.141461409G>T" "" "" "" "TRAPPC9(NM_001321646.1):c.64C>A (p.P22T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140451310G>T" "" "VUS" "" "0000611464" "0" "70" "8" "140744221" "140744221" "subst" "0" "02327" "TRAPPC9_000056" "g.140744221C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139731978C>T" "" "likely pathogenic" "" "0000611465" "0" "90" "8" "141285765" "141285765" "del" "0" "02327" "TRAPPC9_000057" "g.141285765del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140275666del" "" "pathogenic" "" "0000611466" "0" "50" "8" "141461429" "141461429" "subst" "0.000181784" "01943" "TRAPPC9_000058" "g.141461429G>A" "" "" "" "TRAPPC9(NM_001321646.1):c.44C>T (p.T15M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140451330G>A" "" "VUS" "" "0000621999" "0" "30" "8" "140743340" "140743340" "subst" "0.00028914" "01943" "TRAPPC9_000055" "g.140743340G>T" "" "" "" "TRAPPC9(NM_001321646.1):c.3384C>A (p.P1128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.139731097G>T" "" "likely benign" "" "0000652432" "1" "50" "8" "140922528" "140922528" "subst" "0.000190939" "03575" "TRAPPC9_000059" "g.140922528C>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs144046998}" "Germline" "" "rs144046998" "0" "" "" "g.139910284C>G" "" "VUS" "" "0000652433" "1" "50" "8" "141034136" "141034136" "subst" "0.000178734" "03575" "TRAPPC9_000060" "g.141034136G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs199948844}" "Germline" "" "rs199948844" "0" "" "" "g.140024039G>A" "" "VUS" "" "0000652434" "1" "50" "8" "141297819" "141297819" "subst" "0.00841012" "03575" "TRAPPC9_000061" "g.141297819G>A" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs117685875}" "Germline" "" "rs117685875" "0" "" "" "g.140287720G>A" "" "VUS" "" "0000652435" "1" "90" "8" "141461106" "141461106" "subst" "2.43688E-5" "03575" "TRAPPC9_000062" "g.141461106C>A" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs587780486}" "Germline" "" "rs587780486" "0" "" "" "g.140451007C>A" "" "pathogenic" "" "0000652436" "1" "50" "8" "141461210" "141461210" "subst" "0.000702607" "03575" "TRAPPC9_000063" "g.141461210G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs139631202}" "Germline" "" "rs139631202" "0" "" "" "g.140451111G>A" "" "VUS" "" "0000652437" "1" "30" "8" "141468370" "141468370" "subst" "0.00895125" "03575" "TRAPPC9_000064" "g.141468370C>T" "24/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "24 heterozygous, no homozygous; {DB:CLININrs117206975}" "Germline" "" "rs117206975" "0" "" "" "g.140458271C>T" "" "likely benign" "" "0000678291" "0" "70" "8" "141294121" "141294121" "del" "0" "01804" "TRAPPC9_000066" "g.141294121del" "" "" "" "TRAPPC9(NM_001160372.1):c.1982delG (p.(Gly759ValfsTer21))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000678292" "0" "50" "8" "141461230" "141461230" "subst" "4.06098E-6" "01804" "TRAPPC9_000067" "g.141461230G>C" "" "" "" "TRAPPC9(NM_001160372.1):c.243C>G (p.(Ile179Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683586" "3" "90" "8" "141231623" "141231623" "subst" "1.62427E-5" "00006" "TRAPPC9_000068" "g.141231623G>A" "" "{PMID:Anazi 2017:28940097}" "" "NM_031466.5:c.2785C>T" "ACMG PVS1,PS4,PM2" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000763241" "3" "70" "8" "140898144" "140898144" "subst" "0" "00006" "TRAPPC9_000069" "g.140898144G>A" "" "{PMID:Anazi 2017:27431290}" "" "NM_031466.5:c.3328C>T" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.139885900G>A" "" "likely pathogenic" "ACMG" "0000803461" "0" "50" "8" "140922536" "140922536" "subst" "0" "01943" "TRAPPC9_000070" "g.140922536A>G" "" "" "" "TRAPPC9(NM_001321646.1):c.2792T>C (p.I931T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000817776" "3" "90" "8" "141297781" "141297781" "del" "0" "00006" "TRAPPC9_000071" "g.141297781del" "" "{PMID:Hu 2019:29302074}" "" "NM_031466.5:c.2202del" "" "Germline" "" "" "0" "" "" "g.140287682del" "" "pathogenic (recessive)" "ACMG" "0000871095" "3" "90" "8" "141301106" "141301106" "subst" "0" "01164" "TRAPPC9_000072" "g.141301106G>A" "" "PMID: 29187737, 30853973, 33719327, 33710595" "" "NM_031466.5:c.2134C>T" "ACMG PVS1, PM3, PS4_SUP, PM2_SUP" "Germline" "?" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000873740" "3" "70" "8" "141449258" "141449258" "subst" "0" "01343" "TRAPPC9_000073" "g.141449258T>G" "" "{PMID:Uctepe 2023:38058760}" "" "NM_031466.8:c.623A>C" "" "Germline" "?" "" "0" "" "" "g.140439159T>G" "" "likely pathogenic (recessive)" "ACMG" "0000920690" "3" "70" "8" "141460940" "141460940" "subst" "0" "00006" "TRAPPC9_000074" "g.141460940A>G" "" "{PMID:Duerinckx 2018:29693325}, {PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "yes" "" "0" "" "" "g.140450841A>G" "" "likely pathogenic (recessive)" "" "0000920713" "1" "70" "8" "141460940" "141460940" "subst" "0" "00006" "TRAPPC9_000074" "g.141460940A>G" "" "{PMID:Duerinckx 2018:29693325}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000939862" "3" "70" "8" "141370230" "141370230" "subst" "2.84243E-5" "00006" "TRAPPC9_000006" "g.141370230G>A" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.140360131G>A" "" "likely pathogenic (recessive)" "" "0000978051" "0" "50" "8" "140998944" "140998944" "subst" "2.69378E-5" "01804" "TRAPPC9_000075" "g.140998944C>T" "" "" "" "TRAPPC9(NM_001160372.4):c.2800G>A (p.(Glu934Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978052" "0" "30" "8" "141310560" "141310560" "subst" "4.06095E-6" "01804" "TRAPPC9_000076" "g.141310560C>T" "" "" "" "TRAPPC9(NM_001160372.4):c.1768+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978053" "0" "50" "8" "141407834" "141407834" "subst" "0.000442783" "01804" "TRAPPC9_000045" "g.141407834G>A" "" "" "" "TRAPPC9(NM_001160372.4):c.1019C>T (p.(Ala340Val)), TRAPPC9(NM_001321646.1):c.992C>T (p.A331V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001021335" "2" "90" "8" "140743316" "140743316" "del" "0" "01343" "TRAPPC9_000077" "g.140743316del" "" "{PMID:Uctepe 2023:38058760}" "" "NM_031466.8:c.3435delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.139731073del" "" "pathogenic (recessive)" "" "0001021336" "1" "90" "8" "139263083" "140999045" "del" "0" "01343" "TRAPPC9_000078" "g.(139255312_139263083)_(140999045_141034033)del" "" "{PMID:Uctepe 2023:38058760}" "" "" "1.7Mb deletion (8q24.23-q24.3) encompassing last 5 exons of TRAPPC9, KCNK9, COL22A1, first 6 exons of FAM135B" "Germline/De novo (untested)" "" "" "0" "" "" "g.(138243069_138250840)_(139988837_140023936)del" "" "pathogenic (recessive)" "" "0001036752" "0" "50" "8" "140744290" "140744290" "subst" "0.000119097" "01804" "TRAPPC9_000079" "g.140744290C>T" "" "" "" "TRAPPC9(NM_001160372.4):c.3211G>A (p.(Gly1071Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036753" "0" "30" "8" "140999048" "140999048" "subst" "0" "01804" "TRAPPC9_000080" "g.140999048C>A" "" "" "" "TRAPPC9(NM_001160372.4):c.2700-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036754" "0" "50" "8" "141381180" "141381180" "subst" "8.13749E-5" "01804" "TRAPPC9_000081" "g.141381180C>A" "" "" "" "TRAPPC9(NM_001160372.4):c.1234G>T (p.(Ala412Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036755" "0" "30" "8" "141407710" "141407710" "subst" "0" "01804" "TRAPPC9_000082" "g.141407710T>C" "" "" "" "TRAPPC9(NM_001160372.4):c.1134+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036756" "0" "50" "8" "141445217" "141445217" "subst" "0.000483359" "01804" "TRAPPC9_000003" "g.141445217G>A" "" "" "" "TRAPPC9(NM_001160372.4):c.853C>T (p.(Arg285Trp))" "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 TRAPPC9 ## Count = 82 "{{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}}" "0000004676" "00025713" "50" "2115" "-2849" "2115" "-2849" "c.2115-2849G>A" "r.(=)" "p.(=)" "" "0000079644" "00025713" "90" "1532" "0" "1532" "0" "c.1532C>T" "r.(?)" "p.(Thr511Met)" "" "0000079645" "00025713" "90" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Arg285Trp)" "" "0000129999" "00025713" "90" "1129" "0" "1129" "0" "c.1129C>T" "r.(?)" "p.(Arg377*)" "" "0000130000" "00025713" "70" "3056" "-2" "3056" "-2" "c.3056-2A>G" "r.spl?" "p.?" "" "0000171966" "00025713" "90" "1414" "0" "1414" "0" "c.1414C>T" "r.(?)" "p.(Arg472*)" "" "0000248599" "00025713" "10" "399" "0" "399" "0" "c.399T>C" "r.(?)" "p.(Ala133=)" "" "0000248600" "00025713" "10" "288" "0" "288" "0" "c.288T>C" "r.(?)" "p.(Phe96=)" "" "0000248601" "00025713" "10" "207" "0" "207" "0" "c.207T>C" "r.(?)" "p.(Gly69=)" "" "0000249124" "00025713" "10" "2557" "-13" "2557" "-13" "c.2557-13T>A" "r.(=)" "p.(=)" "" "0000256475" "00025713" "50" "3414" "0" "3414" "0" "c.3414T>G" "r.(?)" "p.(Ser1138Arg)" "" "0000312026" "00025713" "50" "1817" "0" "1817" "0" "c.1817A>G" "r.(?)" "p.(Tyr606Cys)" "" "0000312027" "00025713" "30" "3125" "0" "3125" "0" "c.3125G>A" "r.(?)" "p.(Arg1042His)" "" "0000312028" "00025713" "10" "357" "0" "357" "0" "c.357G>A" "r.(?)" "p.(Gly119=)" "" "0000312029" "00025713" "50" "613" "0" "613" "0" "c.613A>G" "r.(?)" "p.(Met205Val)" "" "0000314818" "00025713" "90" "-10" "-1" "-10" "-1" "c.-10-1G>A" "r.spl?" "p.?" "" "0000317014" "00025713" "30" "1164" "0" "1164" "0" "c.1164C>T" "r.(?)" "p.(Tyr388=)" "" "0000317015" "00025713" "30" "-750" "0" "-750" "0" "c.-750A>G" "r.(?)" "p.(=)" "" "0000317016" "00025713" "30" "1899" "0" "1899" "0" "c.1899G>A" "r.(?)" "p.(Ala633=)" "" "0000317017" "00025713" "50" "1958" "0" "1958" "0" "c.1958C>T" "r.(?)" "p.(Thr653Met)" "" "0000317018" "00025713" "50" "2031" "0" "2031" "0" "c.2031C>G" "r.(?)" "p.(Asn677Lys)" "" "0000317019" "00025713" "30" "2658" "0" "2658" "0" "c.2658G>A" "r.(?)" "p.(Pro886=)" "" "0000317020" "00025713" "50" "3098" "0" "3098" "0" "c.3098C>T" "r.(?)" "p.(Ala1033Val)" "" "0000317021" "00025713" "30" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Arg47Gln)" "" "0000332324" "00025713" "50" "3148" "0" "3148" "0" "c.3148C>T" "r.(?)" "p.(Arg1050Trp)" "" "0000332326" "00025713" "50" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Arg269Trp)" "" "0000332327" "00025713" "30" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Val132Met)" "" "0000332328" "00025713" "50" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Thr95Ile)" "" "0000339435" "00025713" "10" "555" "0" "555" "0" "c.555G>A" "r.(?)" "p.(Lys185=)" "" "0000339436" "00025713" "10" "399" "0" "399" "0" "c.399T>C" "r.(?)" "p.(Ala133=)" "" "0000339437" "00025713" "10" "357" "0" "357" "0" "c.357G>A" "r.(?)" "p.(Gly119=)" "" "0000339438" "00025713" "10" "288" "0" "288" "0" "c.288T>C" "r.(?)" "p.(Phe96=)" "" "0000339439" "00025713" "10" "207" "0" "207" "0" "c.207T>C" "r.(?)" "p.(Gly69=)" "" "0000350919" "00025713" "10" "2557" "-13" "2557" "-13" "c.2557-13T>A" "r.(=)" "p.(=)" "" "0000533843" "00025713" "50" "3148" "0" "3148" "0" "c.3148C>T" "r.(?)" "p.(Arg1050Trp)" "" "0000533844" "00025713" "30" "2811" "-4" "2811" "-4" "c.2811-4G>A" "r.spl?" "p.?" "" "0000533845" "00025713" "10" "2799" "0" "2799" "0" "c.2799C>T" "r.(?)" "p.(Gly933=)" "" "0000533847" "00025713" "50" "2671" "0" "2671" "0" "c.2671A>C" "r.(?)" "p.(Thr891Pro)" "" "0000533848" "00025713" "30" "2475" "0" "2475" "0" "c.2475G>A" "r.(?)" "p.(Arg825=)" "" "0000533849" "00025713" "30" "2341" "0" "2341" "0" "c.2341C>A" "r.(?)" "p.(Gln781Lys)" "" "0000533850" "00025713" "30" "1739" "0" "1739" "0" "c.1739A>G" "r.(?)" "p.(Asn580Ser)" "" "0000533851" "00025713" "10" "1692" "0" "1692" "0" "c.1692C>T" "r.(?)" "p.(Asn564=)" "" "0000533852" "00025713" "30" "1326" "0" "1326" "0" "c.1326G>A" "r.(?)" "p.(Ser442=)" "" "0000533853" "00025713" "30" "1137" "0" "1137" "0" "c.1137T>C" "r.(?)" "p.(Leu379=)" "" "0000533855" "00025713" "50" "1019" "0" "1019" "0" "c.1019C>T" "r.(?)" "p.(Ala340Val)" "" "0000533856" "00025713" "10" "731" "-31" "731" "-11" "c.731-31_731-11del" "r.(=)" "p.(=)" "" "0000533857" "00025713" "10" "555" "0" "555" "0" "c.555G>A" "r.(?)" "p.(Lys185=)" "" "0000533858" "00025713" "10" "456" "0" "456" "0" "c.456C>T" "r.(?)" "p.(Ile152=)" "" "0000533859" "00025713" "90" "331" "0" "334" "0" "c.331_334del" "r.(?)" "p.(Tyr111ThrfsTer77)" "" "0000533862" "00025713" "50" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Val46Met)" "" "0000533863" "00025713" "50" "64" "0" "64" "0" "c.64C>A" "r.(?)" "p.(Pro22Thr)" "" "0000611464" "00025713" "70" "3279" "1" "3279" "1" "c.3279+1G>A" "r.spl?" "p.?" "" "0000611465" "00025713" "90" "2271" "0" "2271" "0" "c.2271del" "r.(?)" "p.(Thr758LeufsTer10)" "" "0000611466" "00025713" "50" "44" "0" "44" "0" "c.44C>T" "r.(?)" "p.(Thr15Met)" "" "0000621999" "00025713" "30" "3411" "0" "3411" "0" "c.3411C>A" "r.(?)" "p.(Pro1137=)" "" "0000652432" "00025713" "50" "2827" "0" "2827" "0" "c.2827G>C" "r.(?)" "p.(Asp943His)" "" "0000652433" "00025713" "50" "2597" "0" "2597" "0" "c.2597C>T" "r.(?)" "p.(Pro866Leu)" "" "0000652434" "00025713" "50" "1869" "0" "1869" "0" "c.1869C>T" "r.(=)" "p.(=)" "" "0000652435" "00025713" "90" "367" "0" "367" "0" "c.367G>T" "r.(?)" "p.(Glu123*)" "" "0000652436" "00025713" "50" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Ser88Leu)" "" "0000652437" "00025713" "30" "-643" "0" "-643" "0" "c.-643G>A" "r.(=)" "p.(=)" "" "0000678291" "00025713" "70" "1982" "0" "1982" "0" "c.1982del" "r.(?)" "p.(Gly661ValfsTer21)" "" "0000678292" "00025713" "50" "243" "0" "243" "0" "c.243C>G" "r.(?)" "p.(Ile81Met)" "" "0000683586" "00025713" "90" "2491" "0" "2491" "0" "c.2491C>T" "r.(?)" "p.(Arg831*)" "" "0000763241" "00025713" "70" "3034" "0" "3034" "0" "c.3034C>T" "r.(?)" "p.(Gln1012*)" "" "0000803461" "00025713" "50" "2819" "0" "2819" "0" "c.2819T>C" "r.(?)" "p.(Ile940Thr)" "" "0000817776" "00025713" "90" "1908" "0" "1908" "0" "c.1908del" "r.(?)" "p.(Pro637Argfs*9)" "" "0000871095" "00025713" "90" "1840" "0" "1840" "0" "c.1840C>T" "r.(?)" "p.(Arg614*)" "" "0000873740" "00025713" "70" "623" "0" "623" "0" "c.623A>C" "r.(?)" "p.(His208Pro)" "3" "0000920690" "00025713" "70" "533" "0" "533" "0" "c.533T>C" "r.(?)" "p.(Leu178Pro)" "2" "0000920713" "00025713" "70" "533" "0" "533" "0" "c.533T>C" "r.(?)" "p.(Leu178Pro)" "" "0000939862" "00025713" "70" "1414" "0" "1414" "0" "c.1414C>T" "r.(?)" "p.(Arg472Ter)" "9" "0000978051" "00025713" "50" "2800" "0" "2800" "0" "c.2800G>A" "r.(?)" "p.(Glu934Lys)" "" "0000978052" "00025713" "30" "1768" "8" "1768" "8" "c.1768+8G>A" "r.(=)" "p.(=)" "" "0000978053" "00025713" "50" "1019" "0" "1019" "0" "c.1019C>T" "r.(?)" "p.(Ala340Val)" "" "0001021335" "00025713" "90" "3436" "0" "3436" "0" "c.3436del" "r.(3436del)" "p.(Ala1146Argfs*86)" "" "0001021336" "00025713" "90" "2700" "-1" "1483668" "0" "c.(2699+1_2700-1)_(*1480221_*1487992)del" "r.?" "p.?" "18i_23_" "0001036752" "00025713" "50" "3211" "0" "3211" "0" "c.3211G>A" "r.(?)" "p.(Gly1071Ser)" "" "0001036753" "00025713" "30" "2700" "-4" "2700" "-4" "c.2700-4G>T" "r.spl?" "p.?" "" "0001036754" "00025713" "50" "1234" "0" "1234" "0" "c.1234G>T" "r.(?)" "p.(Ala412Ser)" "" "0001036755" "00025713" "30" "1134" "9" "1134" "9" "c.1134+9A>G" "r.(=)" "p.(=)" "" "0001036756" "00025713" "50" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Arg285Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000000209" "0000004676" "0000050312" "0000079644" "0000050312" "0000079645" "0000080916" "0000129999" "0000080916" "0000130000" "0000106368" "0000171966" "0000295743" "0000652432" "0000295744" "0000652433" "0000295745" "0000652434" "0000295746" "0000652435" "0000295747" "0000652436" "0000295748" "0000652437" "0000309123" "0000683586" "0000362867" "0000763241" "0000388983" "0000817776" "0000413585" "0000871095" "0000415836" "0000873740" "0000434813" "0000920690" "0000434824" "0000920713" "0000441920" "0000939862" "0000461961" "0001021335" "0000461961" "0001021336"