### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRAPPC2) # 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}}" "TRAPPC2" "trafficking protein particle complex 2" "X" "p22" "unknown" "NC_000023.10" "UD_132084510563" "" "https://ww.LOVD.nl/TRAPPC2" "" "1" "23068" "6399" "300202" "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/TRAPPC2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-12-27 10:24:41" "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}}" "00025672" "TRAPPC2" "transcript variant 1" "003" "NM_001011658.3" "" "NP_001011658.1" "" "" "" "-272" "2588" "423" "13752754" "13730361" "00006" "2021-12-27 10:22:56" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "02266" "SEDT" "Spondyloepiphyseal dysplasia tarda" "XLR" "313400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "06887" "dysplasia, bone" "dysplasia, bone" "" "" "" "" "" "00006" "2021-12-27 10:53:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TRAPPC2" "02266" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00177066" "" "" "" "1" "" "02552" "{PMID:Nahorski 2018:29868776}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Switzerland" "" "0" "" "" "" "76366" "00334779" "" "" "" "6" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00397617" "" "" "" "1" "" "00006" "{PMID:Zhang 2015:26377240}" "" "" "" "China" "" "0" "" "" "" "Tab4-Pat10" "00418507" "" "" "" "1" "" "00006" "{PMID:He 2022:35121647}" "" "" "" "China" "" "0" "" "" "" "Fam4" "00440471" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED3376.1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00177066" "00344" "00334779" "04214" "00397617" "06887" "00418507" "00198" "00440471" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00344, 02266, 04214, 06887 ## Count = 3 "{{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}}" "0000141876" "00344" "00177066" "02552" "Unknown" "" "HP:0007325\r\nHP:0001285\r\nHP:0005348\r\nHP:0002705\r\nHP:0010804\r\nHP:0000293\r\nHP:0011800\r\nHP:0009748\r\nHP:0009803" "00y03m" "" "" "" "" "" "" "" "" "" "" "0000290741" "06887" "00397617" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "SEDT" "spondyloepiphyseal dysplasia tarda" "" "0000330381" "00198" "00440471" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "Spondyloepiphyseal dysplasia tarda (MIM #313400)" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000177962" "00177066" "1" "02552" "02552" "2018-08-17 14:00:24" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000336008" "00334779" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000398855" "00397617" "1" "00006" "00006" "2021-12-27 11:55:19" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000419802" "00418507" "1" "00006" "00006" "2022-09-29 15:33:30" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "WES" "0000441956" "00440471" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 189 "{{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}}" "0000247724" "0" "10" "X" "13785309" "13785309" "subst" "0.00112001" "02330" "OFD1_000038" "g.13785309A>C" "" "" "" "OFD1(NM_003611.2):c.2663A>C (p.K888T, p.(Lys888Thr)), OFD1(NM_003611.3):c.2663A>C (p.K888T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13767190A>C" "" "benign" "" "0000247991" "0" "10" "X" "13774739" "13774739" "subst" "0.00162205" "02325" "OFD1_000021" "g.13774739A>G" "" "" "" "OFD1(NM_003611.2):c.1264A>G (p.K422E), OFD1(NM_003611.3):c.1264A>G (p.K422E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13756620A>G" "" "benign" "" "0000248029" "0" "10" "X" "13771576" "13771576" "subst" "0.348252" "02325" "OFD1_000020" "g.13771576A>G" "" "" "" "OFD1(NM_003611.2):c.1129+16A>G, OFD1(NM_003611.3):c.1129+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13753457A>G" "" "benign" "" "0000251668" "0" "10" "X" "13769595" "13769595" "subst" "0" "02326" "OFD1_000017" "g.13769595A>G" "" "" "" "OFD1(NM_003611.3):c.1055+108A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13751476A>G" "" "benign" "" "0000251669" "0" "10" "X" "13786120" "13786120" "subst" "0" "02326" "OFD1_000039" "g.13786120A>C" "" "" "" "OFD1(NM_003611.3):c.2758-53A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13768001A>C" "" "benign" "" "0000251897" "0" "30" "X" "13774769" "13774769" "subst" "0.00019258" "02326" "OFD1_000022" "g.13774769A>G" "" "" "" "OFD1(NM_001330210.1):c.874A>G (p.K292E), OFD1(NM_003611.2):c.1294A>G (p.(Lys432Glu)), OFD1(NM_003611.3):c.1294A>G (p.K432E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13756650A>G" "" "likely benign" "" "0000252527" "0" "90" "X" "13764954" "13764954" "del" "0" "02326" "OFD1_000015" "g.13764954del" "" "" "" "OFD1(NM_003611.3):c.710delA (p.K237Sfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13746835del" "" "pathogenic" "" "0000253252" "0" "10" "X" "13774739" "13774739" "subst" "0.00162205" "01943" "OFD1_000021" "g.13774739A>G" "" "" "" "OFD1(NM_003611.2):c.1264A>G (p.K422E), OFD1(NM_003611.3):c.1264A>G (p.K422E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13756620A>G" "" "benign" "" "0000253290" "0" "10" "X" "13771576" "13771576" "subst" "0.348252" "01943" "OFD1_000020" "g.13771576A>G" "" "" "" "OFD1(NM_003611.2):c.1129+16A>G, OFD1(NM_003611.3):c.1129+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13753457A>G" "" "benign" "" "0000253376" "0" "10" "X" "13785309" "13785309" "subst" "0.00112001" "01943" "OFD1_000038" "g.13785309A>C" "" "" "" "OFD1(NM_003611.2):c.2663A>C (p.K888T, p.(Lys888Thr)), OFD1(NM_003611.3):c.2663A>C (p.K888T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13767190A>C" "" "benign" "" "0000256153" "0" "50" "X" "13771559" "13771559" "subst" "1.11919E-5" "01943" "OFD1_000019" "g.13771559A>C" "" "" "" "OFD1(NM_001330210.1):c.708A>C (p.K236N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13753440A>C" "" "VUS" "" "0000256199" "0" "50" "X" "13786846" "13786846" "subst" "3.35926E-5" "01943" "OFD1_000041" "g.13786846A>C" "" "" "" "OFD1(NM_001330210.1):c.2518A>C (p.K840Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13768727A>C" "" "VUS" "" "0000293365" "0" "10" "X" "13778502" "13778502" "subst" "0.0027803" "02330" "OFD1_000027" "g.13778502G>A" "" "" "" "OFD1(NM_003611.2):c.1923G>A (p.E641=), OFD1(NM_003611.3):c.1923G>A (p.E641=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13760383G>A" "" "benign" "" "0000293366" "0" "10" "X" "13786924" "13786925" "del" "0" "02330" "OFD1_000042" "g.13786924_13786925del" "" "" "" "OFD1(NM_003611.3):c.2996+20_2996+21delAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13768805_13768806del" "" "benign" "" "0000293367" "0" "10" "X" "13762591" "13762591" "subst" "0" "02330" "OFD1_000013" "g.13762591G>A" "" "" "" "OFD1(NM_003611.3):c.470G>A (p.C157Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13744472G>A" "" "benign" "" "0000296673" "0" "30" "X" "13778321" "13778321" "subst" "3.91512E-5" "02325" "OFD1_000026" "g.13778321G>A" "" "" "" "OFD1(NM_003611.3):c.1742G>A (p.(Cys581Tyr), p.C581Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13760202G>A" "" "likely benign" "" "0000296674" "0" "30" "X" "13778502" "13778502" "subst" "0.0027803" "02325" "OFD1_000027" "g.13778502G>A" "" "" "" "OFD1(NM_003611.2):c.1923G>A (p.E641=), OFD1(NM_003611.3):c.1923G>A (p.E641=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13760383G>A" "" "likely benign" "" "0000296675" "0" "30" "X" "13778851" "13778851" "subst" "0.000137553" "02325" "OFD1_000034" "g.13778851G>A" "" "" "" "OFD1(NM_003611.3):c.2260+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13760732G>A" "" "likely benign" "" "0000300512" "0" "10" "X" "13770844" "13770844" "subst" "0" "02326" "OFD1_000018" "g.13770844C>T" "" "" "" "OFD1(NM_003611.3):c.1056-643C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13752725C>T" "" "benign" "" "0000300513" "0" "10" "X" "13754534" "13754534" "subst" "0" "02326" "OFD1_000011" "g.13754534C>T" "" "" "" "OFD1(NM_003611.3):c.112-63C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13736415C>T" "" "benign" "" "0000300514" "0" "30" "X" "13778273" "13778273" "subst" "0.00119703" "02326" "OFD1_000025" "g.13778273T>C" "" "" "" "OFD1(NM_001330210.1):c.1274T>C (p.V425A), OFD1(NM_001330210.2):c.1274T>C (p.V425A), OFD1(NM_003611.3):c.1694T>C (p.V565A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13760154T>C" "" "likely benign" "" "0000300515" "0" "30" "X" "13778502" "13778502" "subst" "0.0027803" "02326" "OFD1_000027" "g.13778502G>A" "" "" "" "OFD1(NM_003611.2):c.1923G>A (p.E641=), OFD1(NM_003611.3):c.1923G>A (p.E641=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13760383G>A" "" "likely benign" "" "0000300516" "0" "30" "X" "13778639" "13778639" "subst" "0.000301091" "02326" "OFD1_000030" "g.13778639C>T" "" "" "" "OFD1(NM_001330210.2):c.1640C>T (p.P547L), OFD1(NM_003611.3):c.2060C>T (p.P687L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13760520C>T" "" "likely benign" "" "0000300517" "0" "30" "X" "13778781" "13778781" "subst" "5.63657E-6" "02326" "OFD1_000032" "g.13778781C>G" "" "" "" "OFD1(NM_003611.3):c.2202C>G (p.L734=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13760662C>G" "" "likely benign" "" "0000300518" "0" "30" "X" "13778822" "13778822" "subst" "0" "02326" "OFD1_000033" "g.13778822G>A" "" "" "" "OFD1(NM_003611.3):c.2243G>A (p.(Ser748Asn), p.S748N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13760703G>A" "" "likely benign" "" "0000300519" "0" "30" "X" "13779341" "13779341" "subst" "0.0130494" "02326" "OFD1_000036" "g.13779341C>T" "" "" "" "OFD1(NM_003611.2):c.2387+11C>T, OFD1(NM_003611.3):c.2387+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13761222C>T" "" "likely benign" "" "0000300520" "0" "10" "X" "13779421" "13779421" "del" "0" "02326" "OFD1_000037" "g.13779421del" "" "" "" "OFD1(NM_003611.3):c.2387+91delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13761302del" "" "benign" "" "0000300521" "0" "30" "X" "13786356" "13786356" "subst" "0" "02326" "OFD1_000040" "g.13786356T>C" "" "" "" "OFD1(NM_003611.3):c.2928+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13768237T>C" "" "likely benign" "" "0000304766" "0" "30" "X" "13778273" "13778273" "subst" "0.00119703" "01943" "OFD1_000025" "g.13778273T>C" "" "" "" "OFD1(NM_001330210.1):c.1274T>C (p.V425A), OFD1(NM_001330210.2):c.1274T>C (p.V425A), OFD1(NM_003611.3):c.1694T>C (p.V565A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13760154T>C" "" "likely benign" "" "0000304767" "0" "30" "X" "13778502" "13778502" "subst" "0.0027803" "01943" "OFD1_000027" "g.13778502G>A" "" "" "" "OFD1(NM_003611.2):c.1923G>A (p.E641=), OFD1(NM_003611.3):c.1923G>A (p.E641=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13760383G>A" "" "likely benign" "" "0000304768" "0" "10" "X" "13778631" "13778631" "subst" "0.00335561" "01943" "OFD1_000029" "g.13778631C>T" "" "" "" "OFD1(NM_003611.2):c.2052C>T (p.S684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13760512C>T" "" "benign" "" "0000304769" "0" "30" "X" "13778715" "13778715" "subst" "1.7179E-5" "01943" "OFD1_000031" "g.13778715C>T" "" "" "" "OFD1(NM_003611.2):c.2136C>T (p.D712=), OFD1(NM_003611.3):c.2136C>T (p.D712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13760596C>T" "" "likely benign" "" "0000304770" "0" "10" "X" "13779341" "13779341" "subst" "0.0130494" "01943" "OFD1_000036" "g.13779341C>T" "" "" "" "OFD1(NM_003611.2):c.2387+11C>T, OFD1(NM_003611.3):c.2387+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13761222C>T" "" "benign" "" "0000304771" "0" "50" "X" "13769414" "13769414" "subst" "0" "01943" "OFD1_000016" "g.13769414C>T" "" "" "" "OFD1(NM_003611.2):c.982C>T (p.L328F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13751295C>T" "" "VUS" "" "0000317011" "0" "30" "X" "13752240" "13752240" "subst" "0.000399118" "01943" "OFD1_000009" "g.13752240C>T" "" "" "" "TRAPPC2(NM_001128835.2):c.12G>A (p.W4*), TRAPPC2(NM_001128835.3):c.12G>A (p.(Trp4Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13734121C>T" "" "likely benign" "" "0000333197" "0" "50" "X" "13727206" "13727206" "subst" "0.000145638" "01804" "RAB9A_000001" "g.13727206C>T" "" "" "" "RAB9A(NM_001195328.1):c.341C>T (p.(Pro114Leu)), RAB9A(NM_004251.4):c.341C>T (p.P114L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13709087C>T" "" "VUS" "" "0000333198" "0" "50" "X" "13752240" "13752240" "subst" "0.000399118" "01804" "OFD1_000009" "g.13752240C>T" "" "" "" "TRAPPC2(NM_001128835.2):c.12G>A (p.W4*), TRAPPC2(NM_001128835.3):c.12G>A (p.(Trp4Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13734121C>T" "" "VUS" "" "0000333199" "0" "50" "X" "13752306" "13752309" "del" "0" "01804" "OFD1_000010" "g.13752306_13752309del" "" "" "" "TRAPPC2(NM_001011658.3):c.-161-3_-161del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13734187_13734190del" "" "VUS" "" "0000333200" "0" "50" "X" "13754649" "13754649" "subst" "0" "01804" "OFD1_000012" "g.13754649G>T" "" "" "" "OFD1(NM_003611.2):c.164G>T (p.(Gly55Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13736530G>T" "" "VUS" "" "0000333201" "0" "50" "X" "13762646" "13762646" "subst" "2.84612E-5" "01804" "OFD1_000014" "g.13762646T>C" "" "" "" "OFD1(NM_003611.2):c.517+8T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13744527T>C" "" "VUS" "" "0000333202" "0" "50" "X" "13774769" "13774769" "subst" "0.00019258" "01804" "OFD1_000022" "g.13774769A>G" "" "" "" "OFD1(NM_001330210.1):c.874A>G (p.K292E), OFD1(NM_003611.2):c.1294A>G (p.(Lys432Glu)), OFD1(NM_003611.3):c.1294A>G (p.K432E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13756650A>G" "" "VUS" "" "0000333203" "0" "30" "X" "13775771" "13775771" "subst" "0" "01804" "OFD1_000023" "g.13775771C>T" "" "" "" "OFD1(NM_001330210.1):c.992-8C>T, OFD1(NM_003611.2):c.1412-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13757652C>T" "" "likely benign" "" "0000333204" "0" "30" "X" "13775774" "13775774" "subst" "0" "01804" "OFD1_000024" "g.13775774C>T" "" "" "" "OFD1(NM_001330210.1):c.992-5C>T, OFD1(NM_003611.2):c.1412-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13757655C>T" "" "likely benign" "" "0000333205" "0" "50" "X" "13778569" "13778569" "subst" "0" "01804" "OFD1_000028" "g.13778569C>A" "" "" "" "OFD1(NM_003611.2):c.1990C>A (p.(Pro664Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13760450C>A" "" "VUS" "" "0000333206" "0" "50" "X" "13779315" "13779315" "subst" "3.9165E-5" "01804" "OFD1_000035" "g.13779315C>T" "" "" "" "OFD1(NM_003611.2):c.2372C>T (p.(Pro791Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13761196C>T" "" "VUS" "" "0000333207" "0" "50" "X" "13785309" "13785309" "subst" "0.00112001" "01804" "OFD1_000038" "g.13785309A>C" "" "" "" "OFD1(NM_003611.2):c.2663A>C (p.K888T, p.(Lys888Thr)), OFD1(NM_003611.3):c.2663A>C (p.K888T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13767190A>C" "" "VUS" "" "0000337185" "0" "90" "X" "13737985" "13737985" "subst" "0" "02327" "TRAPPC2_000006" "g.13737985C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13719866C>T" "" "pathogenic" "" "0000342152" "0" "30" "X" "13764488" "13764488" "subst" "0" "02327" "OFD1_000048" "g.13764488C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13746369C>T" "" "likely benign" "" "0000342744" "0" "90" "X" "13771530" "13771530" "subst" "0" "02327" "OFD1_000051" "g.13771530C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13753411C>T" "" "pathogenic" "" "0000344216" "0" "50" "X" "13786874" "13786874" "subst" "0" "02327" "OFD1_000055" "g.13786874A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13768755A>T" "" "VUS" "" "0000345005" "0" "90" "X" "13734176" "13734176" "subst" "0" "02327" "TRAPPC2_000002" "g.13734176G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13716057G>A" "" "pathogenic" "" "0000347821" "0" "70" "X" "13738081" "13738081" "subst" "0" "02327" "TRAPPC2_000007" "g.13738081A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13719962A>G" "" "likely pathogenic" "" "0000348681" "0" "90" "X" "13757015" "13757015" "dup" "0" "02327" "OFD1_000044" "g.13757015dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13738896dup" "" "pathogenic" "" "0000348762" "0" "50" "X" "13762612" "13762612" "subst" "5.61038E-6" "02327" "OFD1_000047" "g.13762612G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13744493G>A" "" "VUS" "" "0000350057" "0" "70" "X" "13771512" "13771512" "subst" "0" "02327" "OFD1_000050" "g.13771512T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13753393T>C" "" "likely pathogenic" "" "0000350210" "0" "70" "X" "13754745" "13754745" "subst" "0" "02327" "OFD1_000043" "g.13754745A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13736626A>G" "" "likely pathogenic" "" "0000350905" "0" "10" "X" "13771576" "13771576" "subst" "0.348252" "02327" "OFD1_000020" "g.13771576A>G" "" "" "" "OFD1(NM_003611.2):c.1129+16A>G, OFD1(NM_003611.3):c.1129+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13753457A>G" "" "benign" "" "0000406026" "21" "50" "X" "13752218" "13752224" "del" "0" "02552" "TRAPPC2_000008" "g.13752218_13752224del" "" "{PMID:Papuc 2019:30552426}" "" "NM_001128835.2:c.29_35del p.(Gly10Aspfs*5)" "" "Germline" "" "" "0" "" "" "g.13734099_13734105del" "" "VUS" "" "0000573830" "0" "50" "X" "13727206" "13727206" "subst" "0.000145638" "01943" "RAB9A_000001" "g.13727206C>T" "" "" "" "RAB9A(NM_001195328.1):c.341C>T (p.(Pro114Leu)), RAB9A(NM_004251.4):c.341C>T (p.P114L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13709087C>T" "" "VUS" "" "0000573831" "0" "90" "X" "13732585" "13732585" "subst" "0" "02327" "OFD1_000062" "g.13732585G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13714466G>A" "" "pathogenic" "" "0000573832" "0" "50" "X" "13734648" "13734648" "subst" "0" "02327" "OFD1_000063" "g.13734648G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13716529G>A" "" "VUS" "" "0000573833" "0" "30" "X" "13734780" "13734780" "subst" "8.99564E-5" "01943" "OFD1_000064" "g.13734780C>T" "" "" "" "TRAPPC2(NM_001011658.3):c.111G>A (p.L37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13716661C>T" "" "likely benign" "" "0000573834" "0" "50" "X" "13738082" "13738082" "subst" "0" "02327" "OFD1_000065" "g.13738082T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13719963T>C" "" "VUS" "" "0000573835" "0" "30" "X" "13753364" "13753364" "subst" "5.59256E-6" "01943" "OFD1_000066" "g.13753364T>C" "" "" "" "OFD1(NM_001330210.1):c.-533-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13735245T>C" "" "likely benign" "" "0000573837" "0" "90" "X" "13754657" "13754657" "subst" "0" "02327" "OFD1_000068" "g.13754657C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13736538C>T" "" "pathogenic" "" "0000573838" "0" "30" "X" "13756958" "13756958" "dup" "0" "02330" "OFD1_000069" "g.13756958dup" "" "" "" "OFD1(NM_003611.3):c.313-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13738839dup" "" "likely benign" "" "0000573839" "0" "30" "X" "13756965" "13756965" "subst" "5.69667E-6" "02330" "OFD1_000070" "g.13756965G>A" "" "" "" "OFD1(NM_003611.3):c.313G>A (p.V105I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13738846G>A" "" "likely benign" "" "0000573840" "0" "30" "X" "13762658" "13762658" "subst" "0.000535033" "02330" "OFD1_000071" "g.13762658T>C" "" "" "" "OFD1(NM_001330210.1):c.97+20T>C, OFD1(NM_003611.3):c.517+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13744539T>C" "" "likely benign" "" "0000573841" "0" "10" "X" "13764958" "13764958" "subst" "0.00158766" "02330" "OFD1_000002" "g.13764958T>C" "" "" "" "OFD1(NM_001330210.1):c.294T>C (p.Y98=), OFD1(NM_003611.3):c.714T>C (p.Y238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13746839T>C" "" "benign" "" "0000573842" "0" "30" "X" "13764958" "13764958" "subst" "0.00158766" "01943" "OFD1_000002" "g.13764958T>C" "" "" "" "OFD1(NM_001330210.1):c.294T>C (p.Y98=), OFD1(NM_003611.3):c.714T>C (p.Y238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13746839T>C" "" "likely benign" "" "0000573843" "0" "30" "X" "13765025" "13765025" "subst" "9.51539E-5" "01943" "OFD1_000072" "g.13765025G>A" "" "" "" "OFD1(NM_001330210.1):c.361G>A (p.V121I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13746906G>A" "" "likely benign" "" "0000573845" "0" "50" "X" "13769462" "13769462" "subst" "1.12919E-5" "01804" "OFD1_000074" "g.13769462C>T" "" "" "" "OFD1(NM_003611.2):c.1030C>T (p.(Arg344Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13751343C>T" "" "VUS" "" "0000573846" "0" "50" "X" "13769478" "13769478" "subst" "0" "02327" "OFD1_000075" "g.13769478A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13751359A>G" "" "VUS" "" "0000573848" "0" "50" "X" "13771531" "13771531" "subst" "5.59628E-6" "02330" "OFD1_000076" "g.13771531G>A" "" "" "" "OFD1(NM_003611.3):c.1100G>A (p.R367Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13753412G>A" "" "VUS" "" "0000573849" "0" "30" "X" "13771542" "13771542" "subst" "0" "01943" "OFD1_000077" "g.13771542G>A" "" "" "" "OFD1(NM_001330210.1):c.691G>A (p.D231N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13753423G>A" "" "likely benign" "" "0000573850" "0" "30" "X" "13771568" "13771568" "subst" "7.28055E-5" "01804" "OFD1_000078" "g.13771568T>A" "" "" "" "OFD1(NM_003611.2):c.1129+8T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13753449T>A" "" "likely benign" "" "0000573854" "0" "30" "X" "13775769" "13775769" "subst" "0" "01943" "OFD1_000081" "g.13775769A>T" "" "" "" "OFD1(NM_001330210.1):c.992-10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13757650A>T" "" "likely benign" "" "0000573855" "0" "30" "X" "13775769" "13775771" "del" "0" "01804" "OFD1_000082" "g.13775769_13775771del" "" "" "" "OFD1(NM_003611.2):c.1412-10_1412-8del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13757650_13757652del" "" "likely benign" "" "0000573856" "0" "30" "X" "13775770" "13775770" "subst" "0" "01943" "OFD1_000083" "g.13775770C>T" "" "" "" "OFD1(NM_001330210.1):c.992-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13757651C>T" "" "likely benign" "" "0000573857" "0" "30" "X" "13775771" "13775771" "subst" "0" "01943" "OFD1_000023" "g.13775771C>T" "" "" "" "OFD1(NM_001330210.1):c.992-8C>T, OFD1(NM_003611.2):c.1412-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13757652C>T" "" "likely benign" "" "0000573858" "0" "30" "X" "13775774" "13775774" "subst" "0" "01943" "OFD1_000024" "g.13775774C>T" "" "" "" "OFD1(NM_001330210.1):c.992-5C>T, OFD1(NM_003611.2):c.1412-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13757655C>T" "" "likely benign" "" "0000573859" "0" "10" "X" "13776575" "13776575" "subst" "0.000483598" "02330" "OFD1_000084" "g.13776575A>G" "" "" "" "OFD1(NM_001330210.1):c.1234+8A>G, OFD1(NM_003611.3):c.1654+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13758456A>G" "" "benign" "" "0000573860" "0" "30" "X" "13778263" "13778263" "subst" "0" "02327" "OFD1_000085" "g.13778263A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13760144A>C" "" "likely benign" "" "0000573861" "0" "30" "X" "13778322" "13778322" "subst" "0" "01943" "OFD1_000086" "g.13778322C>G" "" "" "" "OFD1(NM_001330210.1):c.1323C>G (p.C441W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13760203C>G" "" "likely benign" "" "0000573862" "0" "50" "X" "13778374" "13778374" "subst" "5.5935E-6" "01943" "OFD1_000087" "g.13778374G>A" "" "" "" "OFD1(NM_003611.2):c.1795G>A (p.V599I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13760255G>A" "" "VUS" "" "0000573863" "0" "30" "X" "13778388" "13778388" "subst" "1.11864E-5" "01943" "OFD1_000088" "g.13778388G>T" "" "" "" "OFD1(NM_001330210.1):c.1389G>T (p.M463I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13760269G>T" "" "likely benign" "" "0000573864" "0" "30" "X" "13778416" "13778416" "subst" "3.91536E-5" "02330" "OFD1_000089" "g.13778416A>G" "" "" "" "OFD1(NM_003611.3):c.1837A>G (p.T613A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13760297A>G" "" "likely benign" "" "0000573865" "0" "30" "X" "13778540" "13778540" "subst" "0.000108915" "01943" "OFD1_000090" "g.13778540G>A" "" "" "" "OFD1(NM_001330210.1):c.1541G>A (p.R514Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13760421G>A" "" "likely benign" "" "0000573867" "0" "30" "X" "13778657" "13778657" "subst" "0" "01804" "OFD1_000092" "g.13778657G>A" "" "" "" "OFD1(NM_001330210.1):c.1658G>A (p.G553E), OFD1(NM_003611.2):c.2078G>A (p.(Gly693Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13760538G>A" "" "likely benign" "" "0000573868" "0" "50" "X" "13778657" "13778657" "subst" "0" "02327" "OFD1_000092" "g.13778657G>A" "" "" "" "OFD1(NM_001330210.1):c.1658G>A (p.G553E), OFD1(NM_003611.2):c.2078G>A (p.(Gly693Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13760538G>A" "" "VUS" "" "0000573869" "0" "30" "X" "13778718" "13778718" "subst" "2.28123E-5" "02330" "OFD1_000093" "g.13778718C>T" "" "" "" "OFD1(NM_001330210.1):c.1719C>T (p.V573=), OFD1(NM_003611.3):c.2139C>T (p.V713=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13760599C>T" "" "likely benign" "" "0000573870" "0" "50" "X" "13778818" "13778818" "subst" "5.66781E-6" "01943" "OFD1_000094" "g.13778818G>A" "" "" "" "OFD1(NM_001330210.1):c.1819G>A (p.E607K), OFD1(NM_003611.2):c.2239G>A (p.(Glu747Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13760699G>A" "" "VUS" "" "0000573871" "0" "30" "X" "13778818" "13778818" "subst" "5.66781E-6" "01804" "OFD1_000094" "g.13778818G>A" "" "" "" "OFD1(NM_001330210.1):c.1819G>A (p.E607K), OFD1(NM_003611.2):c.2239G>A (p.(Glu747Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13760699G>A" "" "likely benign" "" "0000573872" "0" "10" "X" "13778851" "13778851" "subst" "0.000137553" "02330" "OFD1_000034" "g.13778851G>A" "" "" "" "OFD1(NM_003611.3):c.2260+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13760732G>A" "" "benign" "" "0000573876" "0" "10" "X" "13779421" "13779421" "dup" "0" "02326" "OFD1_000096" "g.13779421dup" "" "" "" "OFD1(NM_003611.3):c.2387+91dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13761302dup" "" "benign" "" "0000573877" "0" "30" "X" "13780455" "13780455" "subst" "0" "02330" "OFD1_000097" "g.13780455C>T" "" "" "" "OFD1(NM_003611.3):c.2388-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13762336C>T" "" "likely benign" "" "0000573878" "0" "30" "X" "13781853" "13781853" "subst" "3.92451E-5" "02326" "OFD1_000098" "g.13781853G>A" "" "" "" "OFD1(NM_003611.3):c.2489-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13763734G>A" "" "likely benign" "" "0000573879" "0" "30" "X" "13781899" "13781899" "subst" "0.000699586" "01804" "OFD1_000060" "g.13781899G>A" "" "" "" "OFD1(NM_003611.2):c.2524G>A (p.(Gly842Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13763780G>A" "" "likely benign" "" "0000573880" "0" "10" "X" "13785309" "13785309" "subst" "0.00112001" "02326" "OFD1_000038" "g.13785309A>C" "" "" "" "OFD1(NM_003611.2):c.2663A>C (p.K888T, p.(Lys888Thr)), OFD1(NM_003611.3):c.2663A>C (p.K888T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13767190A>C" "" "benign" "" "0000573881" "0" "10" "X" "13786819" "13786819" "subst" "0.00678463" "02330" "OFD1_000099" "g.13786819C>T" "" "" "" "OFD1(NM_003611.2):c.2929-18C>T, OFD1(NM_003611.3):c.2929-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13768700C>T" "" "benign" "" "0000573882" "0" "10" "X" "13786819" "13786819" "subst" "0.00678463" "01943" "OFD1_000099" "g.13786819C>T" "" "" "" "OFD1(NM_003611.2):c.2929-18C>T, OFD1(NM_003611.3):c.2929-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13768700C>T" "" "benign" "" "0000573883" "0" "10" "X" "13786819" "13786819" "subst" "0.00678463" "02325" "OFD1_000099" "g.13786819C>T" "" "" "" "OFD1(NM_003611.2):c.2929-18C>T, OFD1(NM_003611.3):c.2929-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13768700C>T" "" "benign" "" "0000573884" "0" "10" "X" "13786819" "13786819" "subst" "0.00678463" "02326" "OFD1_000099" "g.13786819C>T" "" "" "" "OFD1(NM_003611.2):c.2929-18C>T, OFD1(NM_003611.3):c.2929-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13768700C>T" "" "benign" "" "0000573885" "0" "50" "X" "13791078" "13791078" "subst" "5.62205E-6" "01943" "OFD1_000100" "g.13791078C>G" "" "" "" "GPM6B(NM_001001995.3):c.909G>C (p.Q303H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13772959C>G" "" "VUS" "" "0000619047" "0" "30" "X" "13762624" "13762624" "subst" "5.6206E-6" "01943" "OFD1_000103" "g.13762624A>T" "" "" "" "OFD1(NM_001330210.1):c.83A>T (p.N28I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13744505A>T" "" "likely benign" "" "0000619048" "0" "30" "X" "13767656" "13767656" "subst" "0" "01804" "OFD1_000104" "g.13767656A>G" "" "" "" "OFD1(NM_003611.2):c.935+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13749537A>G" "" "likely benign" "" "0000619049" "0" "30" "X" "13778282" "13778282" "subst" "1.67811E-5" "01943" "OFD1_000057" "g.13778282G>A" "" "" "" "OFD1(NM_001330210.1):c.1283G>A (p.R428H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13760163G>A" "" "likely benign" "" "0000619050" "0" "10" "X" "13779319" "13779319" "subst" "0.000822525" "02330" "OFD1_000106" "g.13779319G>A" "" "" "" "OFD1(NM_003611.3):c.2376G>A (p.E792=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13761200G>A" "" "benign" "" "0000624445" "0" "30" "X" "13754755" "13754755" "subst" "9.51044E-5" "01943" "OFD1_000102" "g.13754755A>C" "" "" "" "OFD1(NM_003611.2):c.270A>C (p.S90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13736636A>C" "" "likely benign" "" "0000624446" "0" "30" "X" "13776575" "13776575" "subst" "0.000483598" "01943" "OFD1_000084" "g.13776575A>G" "" "" "" "OFD1(NM_001330210.1):c.1234+8A>G, OFD1(NM_003611.3):c.1654+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13758456A>G" "" "likely benign" "" "0000659104" "0" "30" "X" "13753408" "13753408" "subst" "0.000363506" "01943" "OFD1_000067" "g.13753408A>G" "" "" "" "OFD1(NM_003611.2):c.54A>G (p.E18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13735289A>G" "" "likely benign" "" "0000682129" "0" "30" "X" "13734657" "13734657" "subst" "0.000101097" "01943" "OFD1_000107" "g.13734657C>T" "" "" "" "TRAPPC2(NM_001011658.3):c.234G>A (p.A78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682130" "0" "30" "X" "13776576" "13776576" "subst" "0.000522721" "02326" "OFD1_000108" "g.13776576C>T" "" "" "" "OFD1(NM_001330210.2):c.1234+9C>T, OFD1(NM_003611.3):c.1654+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682131" "0" "30" "X" "13778278" "13778278" "subst" "0" "01943" "OFD1_000109" "g.13778278G>T" "" "" "" "OFD1(NM_001330210.1):c.1279G>T (p.D427Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682132" "0" "30" "X" "13778657" "13778657" "subst" "0" "01943" "OFD1_000092" "g.13778657G>A" "" "" "" "OFD1(NM_001330210.1):c.1658G>A (p.G553E), OFD1(NM_003611.2):c.2078G>A (p.(Gly693Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682133" "0" "30" "X" "13778715" "13778715" "subst" "1.7179E-5" "02326" "OFD1_000031" "g.13778715C>T" "" "" "" "OFD1(NM_003611.2):c.2136C>T (p.D712=), OFD1(NM_003611.3):c.2136C>T (p.D712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693381" "0" "30" "X" "13727304" "13727304" "subst" "2.23958E-5" "01943" "RAB9A_000002" "g.13727304G>A" "" "" "" "RAB9A(NM_004251.4):c.439G>A (p.D147N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693382" "0" "30" "X" "13757161" "13757161" "subst" "2.31941E-5" "01943" "OFD1_000112" "g.13757161G>A" "" "" "" "OFD1(NM_001330210.1):c.-134+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693383" "0" "30" "X" "13778612" "13778612" "subst" "0.000635669" "01943" "OFD1_000091" "g.13778612C>G" "" "" "" "OFD1(NM_001330210.1):c.1613C>G (p.A538G), OFD1(NM_001330210.2):c.1613C>G (p.A538G), OFD1(NM_003611.3):c.2033C>G (p.A678G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693384" "0" "30" "X" "13778718" "13778718" "subst" "2.28123E-5" "01943" "OFD1_000093" "g.13778718C>T" "" "" "" "OFD1(NM_001330210.1):c.1719C>T (p.V573=), OFD1(NM_003611.3):c.2139C>T (p.V713=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693385" "0" "30" "X" "13785293" "13785293" "subst" "2.24235E-5" "01943" "OFD1_000113" "g.13785293C>T" "" "" "" "OFD1(NM_001330210.1):c.2227C>T (p.R743W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728476" "0" "30" "X" "13727333" "13727333" "subst" "0" "01943" "RAB9A_000003" "g.13727333A>G" "" "" "" "RAB9A(NM_004251.4):c.468A>G (p.K156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728477" "0" "30" "X" "13753428" "13753428" "subst" "5.59247E-6" "01943" "OFD1_000115" "g.13753428A>G" "" "" "" "OFD1(NM_003611.2):c.74A>G (p.Q25R), OFD1(NM_003611.3):c.74A>G (p.Q25R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728478" "0" "30" "X" "13762658" "13762658" "subst" "0.000535033" "02326" "OFD1_000071" "g.13762658T>C" "" "" "" "OFD1(NM_001330210.1):c.97+20T>C, OFD1(NM_003611.3):c.517+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728480" "0" "30" "X" "13767575" "13767575" "subst" "2.80145E-5" "01943" "OFD1_000116" "g.13767575G>A" "" "" "" "OFD1(NM_001330210.1):c.438G>A (p.R146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728482" "0" "30" "X" "13774769" "13774769" "subst" "0.00019258" "01943" "OFD1_000022" "g.13774769A>G" "" "" "" "OFD1(NM_001330210.1):c.874A>G (p.K292E), OFD1(NM_003611.2):c.1294A>G (p.(Lys432Glu)), OFD1(NM_003611.3):c.1294A>G (p.K432E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728483" "0" "50" "X" "13774838" "13774838" "subst" "0" "02329" "OFD1_000079" "g.13774838A>C" "" "" "" "OFD1(NM_003611.3):c.1363A>C (p.K455Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728484" "0" "30" "X" "13775823" "13775823" "subst" "0" "01943" "OFD1_000117" "g.13775823C>T" "" "" "" "OFD1(NM_001330210.1):c.1036C>T (p.L346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728485" "0" "30" "X" "13776575" "13776575" "subst" "0.000483598" "02326" "OFD1_000084" "g.13776575A>G" "" "" "" "OFD1(NM_001330210.1):c.1234+8A>G, OFD1(NM_003611.3):c.1654+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728486" "0" "30" "X" "13778639" "13778639" "subst" "0.000301091" "02330" "OFD1_000030" "g.13778639C>T" "" "" "" "OFD1(NM_001330210.2):c.1640C>T (p.P547L), OFD1(NM_003611.3):c.2060C>T (p.P687L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728487" "0" "50" "X" "13787218" "13787218" "subst" "2.81256E-5" "01943" "OFD1_000118" "g.13787218C>G" "" "" "" "OFD1(NM_001330210.1):c.2610C>G (p.D870E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000734920" "0" "30" "X" "13732283" "13732283" "subst" "0" "00000" "TRAPPC2_000009" "g.13732283C>A" "6/25 families" "{PMID:Maranhao 2015:26352687}" "" "TRAPPC2:c.*243G>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000809947" "0" "30" "X" "13727165" "13727165" "subst" "1.11961E-5" "01943" "RAB9A_000004" "g.13727165C>T" "" "" "" "RAB9A(NM_004251.4):c.300C>T (p.N100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809948" "0" "10" "X" "13734186" "13734186" "subst" "3.58342E-5" "01943" "OFD1_000130" "g.13734186A>G" "" "" "" "TRAPPC2(NM_001011658.3):c.261T>C (p.H87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000809949" "0" "30" "X" "13734687" "13734687" "subst" "0.000336415" "01943" "OFD1_000131" "g.13734687G>A" "" "" "" "TRAPPC2(NM_001011658.3):c.204C>T (p.N68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809950" "0" "30" "X" "13764487" "13764487" "subst" "9.51986E-5" "01943" "OFD1_000132" "g.13764487G>A" "" "" "" "OFD1(NM_001330210.1):c.147G>A (p.Q49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809951" "0" "30" "X" "13767651" "13767651" "subst" "0" "01943" "OFD1_000133" "g.13767651T>C" "" "" "" "OFD1(NM_001330210.1):c.514T>C (p.L172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809953" "0" "50" "X" "13774824" "13774824" "subst" "0" "02325" "OFD1_000134" "g.13774824A>G" "" "" "" "OFD1(NM_003611.3):c.1349A>G (p.Q450R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809954" "0" "10" "X" "13778273" "13778273" "subst" "0.00119703" "02330" "OFD1_000025" "g.13778273T>C" "" "" "" "OFD1(NM_001330210.1):c.1274T>C (p.V425A), OFD1(NM_001330210.2):c.1274T>C (p.V425A), OFD1(NM_003611.3):c.1694T>C (p.V565A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000809955" "0" "30" "X" "13778631" "13778631" "subst" "0.00166022" "02326" "OFD1_000135" "g.13778631C>G" "" "" "" "OFD1(NM_001330210.2):c.1632C>G (p.S544=), OFD1(NM_003611.3):c.2052C>G (p.S684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809956" "0" "30" "X" "13778772" "13778772" "subst" "1.12672E-5" "01943" "OFD1_000136" "g.13778772C>T" "" "" "" "OFD1(NM_001330210.1):c.1773C>T (p.S591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809957" "0" "30" "X" "13778847" "13778847" "subst" "0.000114415" "01943" "OFD1_000137" "g.13778847A>G" "" "" "" "OFD1(NM_001330210.1):c.1840+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809958" "0" "30" "X" "13779248" "13779248" "subst" "1.11867E-5" "01943" "OFD1_000138" "g.13779248A>G" "" "" "" "OFD1(NM_001330210.1):c.1885A>G (p.R629G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809959" "0" "30" "X" "13780473" "13780473" "subst" "0.000151361" "01943" "OFD1_000139" "g.13780473A>G" "" "" "" "OFD1(NM_001330210.1):c.1978A>G (p.R660G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809961" "0" "50" "X" "13785240" "13785243" "dup" "0" "01943" "OFD1_000140" "g.13785240_13785243dup" "" "" "" "OFD1(NM_001330210.1):c.2180-4_2180-1dupTTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809962" "0" "30" "X" "13785337" "13785337" "subst" "0" "01943" "OFD1_000141" "g.13785337G>T" "" "" "" "OFD1(NM_001330210.1):c.2271G>T (p.R757S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809963" "0" "30" "X" "13786914" "13786914" "subst" "5.5981E-6" "01943" "OFD1_000142" "g.13786914T>C" "" "" "" "OFD1(NM_001330210.1):c.2576+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809964" "0" "30" "X" "13786924" "13786925" "del" "0" "02326" "OFD1_000042" "g.13786924_13786925del" "" "" "" "OFD1(NM_003611.3):c.2996+20_2996+21delAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000831122" "0" "90" "X" "13737985" "13737985" "subst" "0" "00006" "TRAPPC2_000006" "g.13737985C>T" "" "{PMID:Zhang 2015:26377240}" "" "IVS3+5G>A" "" "De novo" "" "" "0" "" "" "g.13719866C>T" "" "pathogenic" "" "0000856370" "0" "90" "X" "13734176" "13734180" "del" "0" "01804" "TRAPPC2_000010" "g.13734176_13734180del" "" "" "" "TRAPPC2(NM_001011658.3):c.271_275del (p.(Gln91Argfs*9)), TRAPPC2(NM_001011658.4):c.271_275delCAAGA (p.Q91Rfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000856371" "0" "50" "X" "13753428" "13753428" "subst" "5.59247E-6" "02325" "OFD1_000115" "g.13753428A>G" "" "" "" "OFD1(NM_003611.2):c.74A>G (p.Q25R), OFD1(NM_003611.3):c.74A>G (p.Q25R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856372" "0" "50" "X" "13776534" "13776534" "subst" "0" "01943" "OFD1_000152" "g.13776534G>A" "" "" "" "OFD1(NM_001330210.1):c.1201G>A (p.D401N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856373" "0" "30" "X" "13776581" "13776581" "subst" "0.000376803" "02326" "OFD1_000153" "g.13776581T>A" "" "" "" "OFD1(NM_003611.3):c.1654+14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856375" "0" "10" "X" "13778612" "13778612" "subst" "0.000635669" "02326" "OFD1_000091" "g.13778612C>G" "" "" "" "OFD1(NM_001330210.1):c.1613C>G (p.A538G), OFD1(NM_001330210.2):c.1613C>G (p.A538G), OFD1(NM_003611.3):c.2033C>G (p.A678G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856376" "0" "10" "X" "13785256" "13785256" "subst" "0" "02325" "OFD1_000156" "g.13785256G>C" "" "" "" "OFD1(NM_003611.3):c.2610G>C (p.Q870H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856377" "0" "10" "X" "13785266" "13785266" "subst" "0" "02325" "OFD1_000157" "g.13785266G>C" "" "" "" "OFD1(NM_003611.3):c.2620G>C (p.E874Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856378" "0" "10" "X" "13785269" "13785269" "subst" "0" "02325" "OFD1_000158" "g.13785269G>A" "" "" "" "OFD1(NM_003611.3):c.2623G>A (p.E875K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856379" "0" "10" "X" "13785278" "13785278" "subst" "0" "02325" "OFD1_000159" "g.13785278G>A" "" "" "" "OFD1(NM_003611.3):c.2632G>A (p.E878K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856380" "0" "10" "X" "13785281" "13785281" "subst" "0" "02325" "OFD1_000160" "g.13785281G>A" "" "" "" "OFD1(NM_003611.3):c.2635G>A (p.E879K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856381" "0" "10" "X" "13785284" "13785284" "subst" "0" "02325" "OFD1_000161" "g.13785284G>A" "" "" "" "OFD1(NM_003611.3):c.2638G>A (p.E880K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000867082" "0" "30" "X" "13757121" "13757121" "subst" "0" "01943" "OFD1_000150" "g.13757121G>A" "" "" "" "OFD1(NM_003611.2):c.382G>A (p.V128I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867083" "0" "30" "X" "13769452" "13769452" "subst" "0.00163061" "02330" "OFD1_000151" "g.13769452G>A" "" "" "" "OFD1(NM_001330210.2):c.600G>A (p.E200=), OFD1(NM_003611.3):c.1020G>A (p.E340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867084" "0" "30" "X" "13776576" "13776576" "subst" "0.000522721" "02330" "OFD1_000108" "g.13776576C>T" "" "" "" "OFD1(NM_001330210.2):c.1234+9C>T, OFD1(NM_003611.3):c.1654+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867085" "0" "30" "X" "13778604" "13778604" "subst" "2.11448E-5" "01943" "OFD1_000155" "g.13778604G>T" "" "" "" "OFD1(NM_001330210.1):c.1605G>T (p.L535F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867086" "0" "10" "X" "13778631" "13778631" "subst" "0.00166022" "02330" "OFD1_000135" "g.13778631C>G" "" "" "" "OFD1(NM_001330210.2):c.1632C>G (p.S544=), OFD1(NM_003611.3):c.2052C>G (p.S684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000867087" "0" "30" "X" "13778851" "13778851" "subst" "0.000137553" "02326" "OFD1_000034" "g.13778851G>A" "" "" "" "OFD1(NM_003611.3):c.2260+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867088" "0" "30" "X" "13785407" "13785407" "dup" "0" "01943" "OFD1_000162" "g.13785407dup" "" "" "" "OFD1(NM_001330210.1):c.2337+4dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867089" "0" "30" "X" "13791089" "13791089" "subst" "3.3761E-5" "01943" "OFD1_000163" "g.13791089G>C" "" "" "" "GPM6B(NM_001001995.3):c.898C>G (p.Q300E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000879969" "0" "70" "X" "13734647" "13734647" "subst" "0" "00006" "TRAPPC2_000011" "g.13734647G>C" "" "{PMID:He 2022:35121647}" "" "" "ACMG PM2, PP1, PP4, PS3" "Germline/De novo (untested)" "" "" "0" "" "" "g.13716528G>C" "" "likely pathogenic" "ACMG" "0000895950" "0" "30" "X" "13752240" "13752240" "subst" "0.000399118" "02327" "OFD1_000009" "g.13752240C>T" "" "" "" "TRAPPC2(NM_001128835.2):c.12G>A (p.W4*), TRAPPC2(NM_001128835.3):c.12G>A (p.(Trp4Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895951" "0" "30" "X" "13764958" "13764958" "subst" "0.00158766" "02326" "OFD1_000002" "g.13764958T>C" "" "" "" "OFD1(NM_001330210.1):c.294T>C (p.Y98=), OFD1(NM_003611.3):c.714T>C (p.Y238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895952" "0" "30" "X" "13769452" "13769452" "subst" "0.00163061" "02326" "OFD1_000151" "g.13769452G>A" "" "" "" "OFD1(NM_001330210.2):c.600G>A (p.E200=), OFD1(NM_003611.3):c.1020G>A (p.E340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895953" "0" "10" "X" "13774739" "13774739" "subst" "0.00162205" "02326" "OFD1_000021" "g.13774739A>G" "" "" "" "OFD1(NM_003611.2):c.1264A>G (p.K422E), OFD1(NM_003611.3):c.1264A>G (p.K422E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895954" "0" "50" "X" "13778747" "13778747" "subst" "3.37992E-5" "02325" "OFD1_000166" "g.13778747C>T" "" "" "" "OFD1(NM_003611.3):c.2168C>T (p.S723L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895955" "0" "50" "X" "13785245" "13785245" "subst" "5.60862E-6" "02327" "OFD1_000167" "g.13785245G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931344" "0" "90" "X" "13734176" "13734180" "del" "0" "02329" "TRAPPC2_000010" "g.13734176_13734180del" "" "" "" "TRAPPC2(NM_001011658.3):c.271_275del (p.(Gln91Argfs*9)), TRAPPC2(NM_001011658.4):c.271_275delCAAGA (p.Q91Rfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000939898" "0" "70" "X" "13752240" "13752240" "subst" "0.000399118" "00006" "OFD1_000009" "g.13752240C>T" "" "{PMID:Nambot 2018:29095811}" "" "NM_001128835.2:c.12G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13734121C>T" "" "likely pathogenic (recessive)" "" "0000951689" "0" "30" "X" "13762616" "13762616" "subst" "1.12286E-5" "02330" "OFD1_000168" "g.13762616G>T" "" "" "" "OFD1(NM_001330210.2):c.75G>T (p.S25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970794" "0" "50" "X" "13738066" "13738066" "subst" "1.948E-5" "02327" "OFD1_000170" "g.13738066T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970799" "0" "30" "X" "13778612" "13778612" "subst" "0.000635669" "02330" "OFD1_000091" "g.13778612C>G" "" "" "" "OFD1(NM_001330210.1):c.1613C>G (p.A538G), OFD1(NM_001330210.2):c.1613C>G (p.A538G), OFD1(NM_003611.3):c.2033C>G (p.A678G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984478" "0" "50" "X" "13778822" "13778822" "subst" "0" "01804" "OFD1_000033" "g.13778822G>A" "" "" "" "OFD1(NM_003611.3):c.2243G>A (p.(Ser748Asn), p.S748N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006468" "0" "30" "X" "13764463" "13764463" "subst" "0" "01804" "OFD1_000172" "g.13764463T>A" "" "" "" "OFD1(NM_003611.2):c.543T>A (p.(Asp181Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027444" "0" "90" "X" "13732567" "13732567" "subst" "0" "02327" "OFD1_000173" "g.13732567T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001044127" "0" "50" "X" "13754791" "13754791" "subst" "0" "01804" "OFD1_000176" "g.13754791A>T" "" "" "" "OFD1(NM_003611.3):c.306A>T (p.(Lys102Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044128" "0" "50" "X" "13756995" "13756995" "subst" "0" "01804" "OFD1_000177" "g.13756995A>G" "" "" "" "OFD1(NM_003611.3):c.343A>G (p.(Ile115Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044129" "0" "30" "X" "13774702" "13774702" "subst" "0" "01804" "OFD1_000178" "g.13774702A>G" "" "" "" "OFD1(NM_003611.3):c.1227A>G (p.(Glu409=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044130" "0" "30" "X" "13778321" "13778321" "subst" "3.91512E-5" "01804" "OFD1_000026" "g.13778321G>A" "" "" "" "OFD1(NM_003611.3):c.1742G>A (p.(Cys581Tyr), p.C581Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044131" "0" "50" "X" "13779294" "13779308" "dup" "0" "01804" "OFD1_000179" "g.13779294_13779308dup" "" "" "" "OFD1(NM_003611.3):c.2351_2365dup (p.(Ile784_Ser788dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044132" "0" "50" "X" "13786252" "13786252" "subst" "0" "01804" "OFD1_000180" "g.13786252A>C" "" "" "" "OFD1(NM_003611.3):c.2837A>C (p.(Glu946Ala))" "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 TRAPPC2 ## Count = 189 "{{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}}" "0000247724" "00025672" "10" "-32827" "0" "-32827" "0" "c.-32827T>G" "r.(?)" "p.(=)" "" "0000247991" "00025672" "10" "-22257" "0" "-22257" "0" "c.-22257T>C" "r.(?)" "p.(=)" "" "0000248029" "00025672" "10" "-19094" "0" "-19094" "0" "c.-19094T>C" "r.(?)" "p.(=)" "" "0000251668" "00025672" "10" "-17113" "0" "-17113" "0" "c.-17113T>C" "r.(?)" "p.(=)" "" "0000251669" "00025672" "10" "-33638" "0" "-33638" "0" "c.-33638T>G" "r.(?)" "p.(=)" "" "0000251897" "00025672" "30" "-22287" "0" "-22287" "0" "c.-22287T>C" "r.(?)" "p.(=)" "" "0000252527" "00025672" "90" "-12464" "0" "-12464" "0" "c.-12464del" "r.(?)" "p.(=)" "" "0000253252" "00025672" "10" "-22257" "0" "-22257" "0" "c.-22257T>C" "r.(?)" "p.(=)" "" "0000253290" "00025672" "10" "-19094" "0" "-19094" "0" "c.-19094T>C" "r.(?)" "p.(=)" "" "0000253376" "00025672" "10" "-32827" "0" "-32827" "0" "c.-32827T>G" "r.(?)" "p.(=)" "" "0000256153" "00025672" "50" "-19077" "0" "-19077" "0" "c.-19077T>G" "r.(?)" "p.(=)" "" "0000256199" "00025672" "50" "-34364" "0" "-34364" "0" "c.-34364T>G" "r.(?)" "p.(=)" "" "0000293365" "00025672" "10" "-26020" "0" "-26020" "0" "c.-26020C>T" "r.(?)" "p.(=)" "" "0000293366" "00025672" "10" "-34439" "0" "-34438" "0" "c.-34439_-34438del" "r.(?)" "p.(=)" "" "0000293367" "00025672" "10" "-10109" "0" "-10109" "0" "c.-10109C>T" "r.(?)" "p.(=)" "" "0000296673" "00025672" "30" "-25839" "0" "-25839" "0" "c.-25839C>T" "r.(?)" "p.(=)" "" "0000296674" "00025672" "30" "-26020" "0" "-26020" "0" "c.-26020C>T" "r.(?)" "p.(=)" "" "0000296675" "00025672" "30" "-26369" "0" "-26369" "0" "c.-26369C>T" "r.(?)" "p.(=)" "" "0000300512" "00025672" "10" "-18362" "0" "-18362" "0" "c.-18362G>A" "r.(?)" "p.(=)" "" "0000300513" "00025672" "10" "-2052" "0" "-2052" "0" "c.-2052G>A" "r.(?)" "p.(=)" "" "0000300514" "00025672" "30" "-25791" "0" "-25791" "0" "c.-25791A>G" "r.(?)" "p.(=)" "" "0000300515" "00025672" "30" "-26020" "0" "-26020" "0" "c.-26020C>T" "r.(?)" "p.(=)" "" "0000300516" "00025672" "30" "-26157" "0" "-26157" "0" "c.-26157G>A" "r.(?)" "p.(=)" "" "0000300517" "00025672" "30" "-26299" "0" "-26299" "0" "c.-26299G>C" "r.(?)" "p.(=)" "" "0000300518" "00025672" "30" "-26340" "0" "-26340" "0" "c.-26340C>T" "r.(?)" "p.(=)" "" "0000300519" "00025672" "30" "-26859" "0" "-26859" "0" "c.-26859G>A" "r.(?)" "p.(=)" "" "0000300520" "00025672" "10" "-26928" "0" "-26928" "0" "c.-26928del" "r.(?)" "p.(=)" "" "0000300521" "00025672" "30" "-33874" "0" "-33874" "0" "c.-33874A>G" "r.(?)" 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"" "0000573833" "00025672" "30" "111" "0" "111" "0" "c.111G>A" "r.(?)" "p.(Leu37=)" "" "0000573834" "00025672" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000573835" "00025672" "30" "-882" "0" "-882" "0" "c.-882A>G" "r.(?)" "p.(=)" "" "0000573837" "00025672" "90" "-2175" "0" "-2175" "0" "c.-2175G>A" "r.(?)" "p.(=)" "" "0000573838" "00025672" "30" "-4471" "0" "-4471" "0" "c.-4471dup" "r.(?)" "p.(=)" "" "0000573839" "00025672" "30" "-4483" "0" "-4483" "0" "c.-4483C>T" "r.(?)" "p.(=)" "" "0000573840" "00025672" "30" "-10176" "0" "-10176" "0" "c.-10176A>G" "r.(?)" "p.(=)" "" "0000573841" "00025672" "10" "-12476" "0" "-12476" "0" "c.-12476A>G" "r.(?)" "p.(=)" "" "0000573842" "00025672" "30" "-12476" "0" "-12476" "0" "c.-12476A>G" "r.(?)" "p.(=)" "" "0000573843" "00025672" "30" "-12543" "0" "-12543" "0" "c.-12543C>T" "r.(?)" "p.(=)" "" "0000573845" "00025672" "50" "-16980" "0" "-16980" "0" "c.-16980G>A" "r.(?)" 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"" "0000856370" "00025672" "90" "271" "0" "275" "0" "c.271_275del" "r.(?)" "p.(Gln91Argfs*9)" "" "0000856371" "00025672" "50" "-946" "0" "-946" "0" "c.-946T>C" "r.(?)" "p.(=)" "" "0000856372" "00025672" "50" "-24052" "0" "-24052" "0" "c.-24052C>T" "r.(?)" "p.(=)" "" "0000856373" "00025672" "30" "-24099" "0" "-24099" "0" "c.-24099A>T" "r.(?)" "p.(=)" "" "0000856375" "00025672" "10" "-26130" "0" "-26130" "0" "c.-26130G>C" "r.(?)" "p.(=)" "" "0000856376" "00025672" "10" "-32774" "0" "-32774" "0" "c.-32774C>G" "r.(?)" "p.(=)" "" "0000856377" "00025672" "10" "-32784" "0" "-32784" "0" "c.-32784C>G" "r.(?)" "p.(=)" "" "0000856378" "00025672" "10" "-32787" "0" "-32787" "0" "c.-32787C>T" "r.(?)" "p.(=)" "" "0000856379" "00025672" "10" "-32796" "0" "-32796" "0" "c.-32796C>T" "r.(?)" "p.(=)" "" "0000856380" "00025672" "10" "-32799" "0" "-32799" "0" "c.-32799C>T" "r.(?)" "p.(=)" "" "0000856381" "00025672" "10" "-32802" "0" "-32802" "0" "c.-32802C>T" "r.(?)" 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"p.(=)" "" "0000895952" "00025672" "30" "-16970" "0" "-16970" "0" "c.-16970C>T" "r.(?)" "p.(=)" "" "0000895953" "00025672" "10" "-22257" "0" "-22257" "0" "c.-22257T>C" "r.(?)" "p.(=)" "" "0000895954" "00025672" "50" "-26265" "0" "-26265" "0" "c.-26265G>A" "r.(?)" "p.(=)" "" "0000895955" "00025672" "50" "-32763" "0" "-32763" "0" "c.-32763C>G" "r.(?)" "p.(=)" "" "0000931344" "00025672" "90" "271" "0" "275" "0" "c.271_275del" "r.(?)" "p.(Gln91Argfs*9)" "" "0000939898" "00025672" "70" "-97" "0" "-97" "0" "c.-97G>A" "r.(=)" "p.(=)" "" "0000951689" "00025672" "30" "-10134" "0" "-10134" "0" "c.-10134C>A" "r.(?)" "p.(=)" "" "0000970794" "00025672" "50" "17" "0" "17" "0" "c.17A>G" "r.(?)" "p.(Tyr6Cys)" "" "0000970799" "00025672" "30" "-26130" "0" "-26130" "0" "c.-26130G>C" "r.(?)" "p.(=)" "" "0000984478" "00025672" "50" "-26340" "0" "-26340" "0" "c.-26340C>T" "r.(?)" "p.(=)" "" "0001006468" "00025672" "30" "-11981" "0" "-11981" "0" "c.-11981A>T" "r.(?)" "p.(=)" "" "0001027444" "00025672" "90" "382" "0" "382" "0" "c.382A>T" "r.(?)" "p.(Arg128*)" "" "0001044127" "00025672" "50" "-2309" "0" "-2309" "0" "c.-2309T>A" "r.(?)" "p.(=)" "" "0001044128" "00025672" "50" "-4513" "0" "-4513" "0" "c.-4513T>C" "r.(?)" "p.(=)" "" "0001044129" "00025672" "30" "-22220" "0" "-22220" "0" "c.-22220T>C" "r.(?)" "p.(=)" "" "0001044130" "00025672" "30" "-25839" "0" "-25839" "0" "c.-25839C>T" "r.(?)" "p.(=)" "" "0001044131" "00025672" "50" "-26820" "0" "-26806" "0" "c.-26820_-26806dup" "r.(?)" "p.(=)" "" "0001044132" "00025672" "50" "-33770" "0" "-33770" "0" "c.-33770T>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000177962" "0000406026" "0000336008" "0000734920" "0000398855" "0000831122" "0000419802" "0000879969" "0000441956" "0000939898"