### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRAPPC11) # 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}}" "TRAPPC11" "trafficking protein particle complex 11" "4" "q35.1" "unknown" "NG_033102.1" "UD_136018112625" "" "https://www.LOVD.nl/TRAPPC11" "" "1" "25751" "60684" "614138" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/TRAPPC11_codingDNA.html" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)." "-1" "" "-1" "00001" "2013-01-02 00:00:00" "00006" "2017-09-08 12:09:39" "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}}" "00021766" "TRAPPC11" "transcript variant 1" "001" "NM_021942.5" "" "NP_068761.4" "" "" "" "-202" "4352" "3402" "184580420" "184634747" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00141" "LGMD2" "dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2)" "" "" "" "" "" "00006" "2013-06-10 21:06:19" "00006" "2021-12-11 13:56:28" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01273" "hCK" "hyperCKemia (hCK, elevated serum creatine phosphokinase)" "AD" "123320" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03907" "LGMDR18;LGMD2S" "dystrophy, muscular, limb-girdle, autosomal recessive, type 18 (LGMD2S)" "AR" "615356" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-10-24 15:18:22" "04229" "CDG2" "glycosylation, congenital disorder of, type II (CDG-2)" "" "" "" "" "" "00006" "2015-03-20 21:54:25" "00006" "2021-12-11 13:56:28" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "TRAPPC11" "00141" "TRAPPC11" "03907" "TRAPPC11" "05126" ## Individuals ## Do not remove or alter this header ## ## Count = 56 "{{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}}" "00081546" "" "" "" "1" "" "01789" "" "" "M" "no" "Spain" "00y05m" "0" "" "" "" "" "00103908" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH6980_1" "00111404" "" "" "" "1" "" "00729" "{PMID:Popp 2017:29158550}, {DOI:Popp 2017:10.1038/s41431-017-0022-1}" "" "F" "no" "" "" "0" "" "" "" "S_081" "00119098" "" "" "" "1" "" "02237" "" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "Chinese" "" "00119122" "" "" "" "1" "" "00006" "ASHG2012, Bogershausen, P2944" "" "M" "" "United States" "" "0" "" "" "" "Fam2" "00119123" "" "" "" "3" "" "00006" "{PMID:Bögershausen 2013:23830518}" "3-generation family, 3 affecteds (3F), unaffected heterozygous carrier parents" "F" "yes" "Syria" "" "0" "" "" "" "23830518-Fam1" "00119124" "" "" "" "3" "" "00006" "{PMID:Bögershausen 2013:23830518}" "2-generation family, 3 affecteds (3M), unaffected heterozygous carrier parents" "M" "yes" "United States" "" "0" "" "" "Hutterite" "23830518-Fam2" "00119125" "" "" "" "2" "" "00006" "{PMID:Bögershausen 2013:23830518}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "yes" "United States" "" "0" "" "" "Hutterite" "23830518-Fam2" "00119126" "" "" "" "1" "" "00006" "{PMID:Bögershausen 2013:23830518}" "isolated patient" "" "" "United States" "" "0" "" "" "Hutterite" "23830518-Ind1" "00119127" "" "" "" "1" "" "00006" "{PMID:Bögershausen 2013:23830518}" "isolated patient" "" "" "United States" "" "0" "" "" "Hutterite" "23830518-Ind2" "00119128" "" "" "" "1" "" "00006" "{PMID:Liang 2015:26322222}, {DOI:Liang 2015:10.1186/s13395-015-0056-4}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Taiwan" "" "0" "" "" "Han Chinese" "26322222-Pat" "00119129" "" "" "" "2" "" "00006" "{PMID:Koehler 2017:27707803}, {DOI:Koehler 2017:10.1136/jmedgenet-2016-104108}" "2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents (first degree cousins)" "F;M" "yes" "Turkey" "" "0" "" "" "" "27707803-Fam1" "00119130" "" "" "" "2" "" "00006" "{PMID:Koehler 2017:27707803}, {DOI:Koehler 2017:10.1136/jmedgenet-2016-104108}" "2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents (first degree cousins)" "F;M" "yes" "Turkey" "" "0" "" "" "" "27707803-Fam2" "00174791" "" "" "" "1" "" "00006" "{PMID:Fichna 2018:29970176}" "" "F" "yes" "Poland" "" "0" "" "" "" "Pat229a" "00208755" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00228187" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00266270" "" "" "" "1" "" "00006" "Bharatendu 2019, ASHG P1254" "" "M" "" "China" "" "0" "" "" "" "Pat" "00293595" "" "" "" "45" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293596" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293597" "" "" "" "20" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293598" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00314485" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314486" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314487" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314488" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00399393" "" "" "" "1" "" "00006" "{PMID:Larson 2018:29855340}" "" "F" "" "United States" "" "0" "" "" "" "Pat1" "00438777" "" "" "" "2" "" "00006" "{PMID:Justel 2023: 37197784}" "family, 2 affected (2F)" "F" "" "Spain" "" "0" "" "" "Roma" "Fam1Pat1" "00438778" "" "" "00438777" "1" "" "00006" "{PMID:Justel 2023: 37197784}" "relative" "F" "" "Spain" "" "0" "" "" "Roma" "Fam1Pat2" "00438779" "" "" "" "1" "" "00006" "{PMID:Justel 2023: 37197784}" "" "M" "" "Spain" "" "0" "" "" "Roma" "Fam2Pat3" "00438780" "" "" "" "2" "" "00006" "{PMID:Justel 2023: 37197784}" "family, 2 affected (2M)" "M" "" "Spain" "" "0" "" "" "Roma" "Fam3Pat4" "00438781" "" "" "00438780" "1" "" "00006" "{PMID:Justel 2023: 37197784}" "relative" "M" "" "Spain" "" "0" "" "" "Roma" "Fam3Pat5" "00438782" "" "" "" "2" "" "00006" "{PMID:Justel 2023: 37197784}" "family, 2 affected (F, M)" "F" "" "Spain" "" "0" "" "" "Roma" "Fam4Pat6" "00438783" "" "" "00438782" "1" "" "00006" "{PMID:Justel 2023: 37197784}" "relative" "M" "" "Spain" "" "0" "" "" "Roma" "Fam4Pat7" "00438784" "" "" "" "1" "" "00006" "{PMID:Justel 2023: 37197784}" "" "F" "" "Spain" "" "0" "" "" "Roma" "Fam5Pat8" "00438785" "" "" "" "3" "" "00006" "{PMID:Justel 2023: 37197784}" "family, 2 affected (F, 2M)" "F" "" "Spain" "" "0" "" "" "Roma" "Fam6Pat9" "00438786" "" "" "00438785" "1" "" "00006" "{PMID:Justel 2023: 37197784}" "relative" "M" "" "Spain" "" "0" "" "" "Roma" "Fam6Pat10" "00438787" "" "" "00438785" "1" "" "00006" "{PMID:Justel 2023: 37197784}" "relative" "M" "" "Spain" "" "0" "" "" "Roma" "Fam6Pat11" "00438788" "" "" "" "1" "" "00006" "{PMID:Justel 2023: 37197784}" "" "F" "" "Spain" "" "0" "" "" "Roma" "Fam7Pat12" "00438789" "" "" "" "1" "" "00006" "{PMID:Justel 2023: 37197784}" "" "F" "" "Spain" "" "0" "" "" "Roma" "Fam8Pat13" "00438790" "" "" "" "1" "" "00006" "{PMID:Justel 2023: 37197784}" "" "F" "" "Spain" "" "0" "" "" "Roma" "Fam9Pat14" "00438791" "" "" "" "2" "" "00006" "{PMID:Justel 2023: 37197784}" "family, 2 affected (2M)" "M" "" "Spain" "" "0" "" "" "Roma" "Fam10Pat15" "00438792" "" "" "00438791" "1" "" "00006" "{PMID:Justel 2023: 37197784}" "relative" "M" "" "Spain" "" "0" "" "" "Roma" "Fam10Pat16" "00438793" "" "" "" "1" "" "00006" "{PMID:Justel 2023: 37197784}" "" "M" "" "Spain" "" "0" "" "" "Roma" "Fam11Pat17" "00438794" "" "" "" "1" "" "00006" "{PMID:Justel 2023: 37197784}" "" "F" "" "Spain" "" "0" "" "" "Roma" "Fam12Pat18" "00438795" "" "" "" "1" "" "00006" "{PMID:Justel 2023: 37197784}" "" "M" "" "Spain" "" "0" "" "" "Roma" "Fam13Pat19" "00438796" "" "" "" "1" "" "00006" "{PMID:Justel 2023: 37197784}" "" "F" "" "Spain" "" "0" "" "" "Roma" "Fam14Pat20" "00438797" "" "" "" "1" "" "00006" "{PMID:Justel 2023: 37197784}" "" "M" "" "Spain" "" "0" "" "" "Roma" "Fam15Pat21" "00438798" "" "" "" "1" "" "00006" "{PMID:Justel 2023: 37197784}" "" "M" "" "Spain" "" "0" "" "" "Roma" "Fam16Pat22" "00438799" "" "" "" "2" "" "00006" "{PMID:Justel 2023: 37197784}" "family, 2 affected (F, M)" "M" "" "Spain" "" "0" "" "" "Roma" "Fam17Pat23" "00438800" "" "" "00438799" "1" "" "00006" "{PMID:Justel 2023: 37197784}" "relative" "F" "" "Spain" "" "0" "" "" "Roma" "Fam17Pat24" "00438801" "" "" "" "1" "" "00006" "{PMID:Justel 2023: 37197784}" "" "F" "" "Spain" "" "0" "" "" "Roma" "Fam18Pat25" "00446904" "" "" "" "1" "cc_by-nc-nd_4.0;0" "00447" "" "" "F" "no" "" "" "" "" "" "" "" "00446905" "" "" "" "1" "" "00447" "" "" "M" "" "" "" "" "" "" "" "" "00446906" "" "" "" "1" "" "00447" "" "" "M" "" "" "" "" "" "" "" "" "00454539" "" "" "" "1" "" "00006" "{PMID:Xie 2024:39198981}" "patient" "M" "" "China" "" "0" "" "not treated" "" "Pat284" "00460257" "" "" "" "1" "" "00006" "{PMID:Marti 2025:39666917}" "patient, no family history" "" "" "Spain" "" "0" "" "" "" "Pat28" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 55 "{{individualid}}" "{{diseaseid}}" "00081546" "04229" "00103908" "00198" "00111404" "03907" "00119098" "03907" "00119122" "05126" "00119123" "05126" "00119124" "05126" "00119125" "05126" "00119126" "05126" "00119127" "05126" "00119128" "05121" "00119129" "00198" "00119130" "00198" "00174791" "05126" "00228187" "00198" "00266270" "05126" "00293595" "00198" "00293596" "00198" "00293597" "00198" "00293598" "00198" "00314485" "05126" "00314486" "05126" "00314487" "05126" "00314488" "05126" "00399393" "05521" "00438777" "05121" "00438778" "05121" "00438779" "05121" "00438780" "05121" "00438781" "05121" "00438782" "05121" "00438783" "05121" "00438784" "05121" "00438785" "05121" "00438786" "05121" "00438787" "05121" "00438788" "05121" "00438789" "05121" "00438790" "05121" "00438791" "05121" "00438792" "05121" "00438793" "05121" "00438794" "05121" "00438795" "05121" "00438796" "05121" "00438797" "05121" "00438798" "05121" "00438799" "05121" "00438800" "05121" "00438801" "05121" "00446904" "03907" "00446905" "03907" "00446906" "03907" "00454539" "05121" "00460257" "01273" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00141, 00198, 01273, 03907, 04229, 05121, 05126, 05521 ## Count = 45 "{{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}}" "0000061148" "04229" "00081546" "01789" "Familial, autosomal recessive" "" "HP:0008947 Hypotonia, HP:0000252 Microcephaly, HP: 0000278 Retrognathia, HP:0100490 Camptodactilia, HP:0001761 Pes cavus, HP:0002611 Cholestatic liver, HP: 0000112 nephropathy, HP:0000938 osteopenia, HP: 0007178 Peripheral motor neuronopathy" "" "" "" "" "" "" "" "" "" "" "" "0000081835" "00198" "00103908" "00006" "Familial, autosomal recessive" "" "developmental delay, intellectual disability, hypotonia, dysmorphic features, short stature, failure to thrive, skeletal anomalies, scoliosis" "" "" "" "" "" "" "" "" "" "" "" "0000087489" "03907" "00111404" "00729" "Familial, autosomal recessive" "" "Strabismus, mildly elevated CK, moderate ID, movement disorder" "" "" "" "" "" "" "" "" "" "" "" "0000094091" "03907" "00119098" "02237" "Familial, autosomal recessive" "05y" "early onset limb girdle muscular dystrophy (HP:0006785); walk-22m, muscular pseudohypertrophy (HP:0003707), proximal weakness (HP:0003701), bilateral cataracts (HP:0000519), normal cognition (no ntellectual disability, HP:0001249)" "01y" "03y" "" "" "" "" "" "" "" "" "" "0000094120" "05126" "00119122" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000094121" "05126" "00119123" "00006" "Familial, autosomal recessive" "" "see paper; ...; progressive muscle weakness proximal limbs, hip dysplasia, scoliosis, hypertrichosis; eye abnormalities 2 patients; no obvious cardiac or bulbar muscle involvement; CPK level 9-16x" "" "" "" "" "" "" "" "" "" "" "" "0000094122" "05126" "00119124" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000094123" "05126" "00119125" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000094124" "05126" "00119126" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000094125" "05126" "00119127" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000094126" "05121" "00119128" "00006" "Familial, autosomal recessive" "" "see paper; ..., congenital muscular dystrophy, fatty liver, infantile-onset cataract" "" "" "" "" "" "" "" "" "" "" "" "0000094127" "00198" "00119129" "00006" "Familial, autosomal recessive" "" "see paper; ..., cerebral atrophy, global retardation, scoliosis, achalasia, alacrima" "" "" "" "" "" "" "" "" "" "Triple A syndrome" "" "0000094128" "00198" "00119130" "00006" "Familial, autosomal recessive" "" "see paper; ..., cerebral atrophy, global retardation, scoliosis, achalasia, alacrima" "" "" "" "" "" "" "" "" "" "Triple A syndrome" "" "0000139618" "05126" "00174791" "00006" "Isolated (sporadic)" "6y" "CPK raised 19x; asymptomatic hyper-CKmia" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000157373" "00198" "00208755" "01164" "Unknown" "" "HP:0003198 (Myopathy); HP:0003457 (EMG abnormality)" "" "" "" "" "" "" "" "" "" "" "" "0000172092" "00198" "00228187" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000204045" "05126" "00266270" "00006" "Familial, autosomal recessive" "" "see abstract; ..." "" "" "" "" "" "" "" "" "LGMD2S" "limb-girdle muscular dystrophy" "" "0000292504" "05521" "00399393" "00006" "Familial, autosomal recessive" "" "see paper; ..., 6m-status epilepticus, vomiting illness" "" "" "" "" "" "" "" "" "" "status epilepticus" "" "0000328675" "05121" "00438777" "00006" "Familial, autosomal recessive" "13y-16y" "severe intellectual disability; CK level 300-600IU; muscle weakness; no movement disorder; 6m-onset seizure; infection-related seizures; bilateral tonic-clonic seizure, generalized onset tonic seizures; no status epilepticus; epilepsy course Brodie class A; EEG normal background, ultifocal spikes, sharp, slow and spike-waves, mainly left centro-parieto-temporal; MRI brain normal" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328676" "05121" "00438778" "00006" "Familial, autosomal recessive" "9y-12y" "severe intellectual disability; CK level 300-1100IU; muscle weakness; movement disorder; 6m-onset seizure; infection-related seizures; focal motor with impaired awareness seizure, focal non-motor with impaired awareness seizure, focal onset to bilateral tonic-clonic seizure; status epilepticus (several status with fever); epilepsy course Brodie class C; EEG normal background, focal sharp waves in right fronto-temporal; MRI brain generalized decrease in cortico-subcortical volume" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328677" "05121" "00438779" "00006" "Familial, autosomal recessive" "17y-20y" "moderate intellectual disability; CK level 500-1400IU; muscle weakness; movement disorder; 4m-onset seizure; infection-related seizures; bilateral tonic-clonic seizure, focal onset to bilateral tonic-clonic seizure, focal motor with impaired awareness seizure; status epilepticus (febrile status epilepticus); epilepsy course Brodie class C; EEG normal background, ultifocal spike-waves, mainly left parieto-temporal; MRI brain normal" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328678" "05121" "00438780" "00006" "Familial, autosomal recessive" "5y-8y" "moderate intellectual disability; CK level 500-800IU; muscle weakness; muscle biopsy unspecific myopathic pattern; movement disorder; no epilepsy; EEG normal background, ; MRI brain normal" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328679" "05121" "00438781" "00006" "Familial, autosomal recessive" "5y-8y" "moderate-severe intellectual disability; CK level 300-500IU; muscle weakness; muscle biopsy unspecific myopathic pattern; movement disorder; 14m-onset seizure; infection-related seizures; focal onset to bilateral tonic-clonic seizure, bilateral tonic-clonic seizure; status epilepticus (febrile status epilepticus); epilepsy course Brodie class B; EEG slow background, multifocal spike-waves, mainly left parieto-occipital and right parieto-temporal; MRI brain generalized decrease in cortico-subcortical volume" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328680" "05121" "00438782" "00006" "Familial, autosomal recessive" "13y-16y" "moderate-severe intellectual disability; CK level 450IU; muscle weakness; movement disorder; ; no epilepsy; MRI brain generalized decrease in cortico-subcortical volume" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328681" "05121" "00438783" "00006" "Familial, autosomal recessive" "9y-12y" "mild intellectual disability; muscle weakness; movement disorder; ; no epilepsy" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328682" "05121" "00438784" "00006" "Familial, autosomal recessive" "13y-16y" "moderate intellectual disability; CK level 800-3000IU; muscle weakness; muscle biopsy unspecific myopathic pattern; movement disorder; 6m-onset seizure; infection-related seizures; bilateral tonic-clonic seizure; status epilepticus (febrile status epilepticus); epilepsy course Brodie class A; EEG normal background, multifocal spike-waves, mainly frontal, no photosensitivity; MRI brain generalized decrease in cortico-subcortical volume" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328683" "05121" "00438785" "00006" "Familial, autosomal recessive" "9y-12y" "severe intellectual disability; CK level 350-750IU; muscle weakness; movement disorder; 15m-onset seizure; no infection-related seizures; bilateral tonic-clonic seizure; no status epilepticus; epilepsy course Brodie class C; EEG normal background, multifocal discharges; MRI brain periventricular leukomalacia (history of prematurity)" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328684" "05121" "00438786" "00006" "Familial, autosomal recessive" "21y-24y" "severe intellectual disability; CK level 3500IU; no muscle weakness; movement disorder; 7y-onset seizure; bilateral tonic-clonic seizure; no status epilepticus; epilepsy course Brodie class B; EEG slow background, some EEG with multifocal activity, spikes in the right centrotemporal region and left centrotemporal region; MRI brain normal" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328685" "05121" "00438787" "00006" "Familial, autosomal recessive" "5y-8y" "moderate intellectual disability; CK level 700-1000IU; no muscle weakness; muscle biopsy unspecific myopathic pattern; movement disorder; ; no epilepsy; MRI brain normal" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328686" "05121" "00438788" "00006" "Familial, autosomal recessive" "5y-8y" "moderate intellectual disability; CK level 1700- 4500IU; muscle weakness; movement disorder; ; no epilepsy; MRI brain normal" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328687" "05121" "00438789" "00006" "Familial, autosomal recessive" "9y-12y" "severe intellectual disability; CK level 820-1500IU; muscle weakness; muscle biopsy unspecific myopathic pattern; movement disorder; 4m-onset seizure; infection-related seizures; generalized onset myoclonic seizure, focal motor with impaired awareness seizure; no status epilepticus; epilepsy course Brodie class C; EEG focal discharges (left centro-temporal); MRI brain generalized decrease in cortico-subcortical volume" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328688" "05121" "00438790" "00006" "Familial, autosomal recessive" "17y-20y" "moderate intellectual disability; CK level 600-5000IU; no muscle weakness; muscle biopsy unspecific myopathic pattern; no movement disorder; ; no epilepsy; MRI brain normal" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328689" "05121" "00438791" "00006" "Familial, autosomal recessive" "5y-8y" "moderate intellectual disability; CK level 1950IU; muscle weakness; movement disorder; ; no epilepsy; MRI brain bilateral parieto-occipital corticosubcortical volume decrease with prominence cerebellar folia, thin corpus callosum" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328690" "05121" "00438792" "00006" "Familial, autosomal recessive" "13y-16y" "severe intellectual disability; CK level 2970IU; muscle weakness; movement disorder; no status epilepticus; epilepsy; EEG slow background activity" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328691" "05121" "00438793" "00006" "Familial, autosomal recessive" "21y-24y" "severe intellectual disability; CK level 1660IU; no muscle weakness; muscle biopsy unspecific myopathic pattern; movement disorder; 13m-onset seizure; infection-related seizures; bilateral tonic-clonic seizure; status epilepticus; epilepsy course Brodie class A; EEG slow background activity, epileptic abnormalities not detected; MRI brain normal" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328692" "05121" "00438794" "00006" "Familial, autosomal recessive" "9y-12y" "moderate-severe intellectual disability; CK level 260-780IU; no muscle weakness; movement disorder; 12m-onset seizure; infection-related seizures; bilateral tonic-clonic seizure; status epilepticus; epilepsy course Brodie class A; EEG normal background activity, epileptic abnormalities not detected; MRI brain normal" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328693" "05121" "00438795" "00006" "Familial, autosomal recessive" "5y-8y" "moderate-severe intellectual disability; CK level 370IU; no muscle weakness; movement disorder; ; no epilepsy; MRI brain normal" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328694" "05121" "00438796" "00006" "Familial, autosomal recessive" "13y-16y" "severe intellectual disability; CK level 2450IU; muscle weakness; no movement disorder; ; no epilepsy; MRI brain normal" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328695" "05121" "00438797" "00006" "Familial, autosomal recessive" "2y-4y" "CK level 1035IU; no muscle weakness; movement disorder; 14m-onset seizure; infection-related seizures; bilateral tonic-clonic seizure; no status epilepticus; epilepsy course Brodie class A; EEG slow background activity, multifocal discharges; MRI brain generalized decrease in cortico-subcortical volume" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328696" "05121" "00438798" "00006" "Familial, autosomal recessive" "13y-16y" "intellectual disability; CK level 1200- 2400IU; muscle weakness; movement disorder; ; no epilepsy; MRI brain megacisterna magna" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328697" "05121" "00438799" "00006" "Familial, autosomal recessive" "2y-4y" "CK level 550IU; muscle weakness; no movement disorder; ; no epilepsy" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328698" "05121" "00438800" "00006" "Familial, autosomal recessive" "9y-12y" "intellectual disability; CK level 330-1720IU; muscle weakness; no movement disorder; ; no epilepsy" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000328699" "05121" "00438801" "00006" "Familial, autosomal recessive" "17y-20y" "moderate-severe intellectual disability; CK level 370IU; muscle weakness; movement disorder; 8y-onset seizure; infection-related seizures; focal motor with impaired awareness seizure, bilateral tonic-clonic seizure; no status epilepticus; epilepsy course Brodie class A; EEG slow background activity, epileptic abnormalities not detected; MRI brain normal" "" "" "" "" "" "" "" "" "LGMDR18" "muscular dystrophy" "" "0000343194" "05121" "00454539" "00006" "Unknown" "" "Hepatic dysfunction; no Gowers\' sign; hypertrophy gastrocnemius; limb muscle force 5; 10m walk 5 sec; elevated serum CK level (2477 U/L); no family history" "6y" "" "" "" "" "" "" "" "LGMD2S" "BMD/DMD" "" "0000347986" "01273" "00460257" "00006" "Unknown" "0y-9y" "asymptomatic, hyperCKemia; elevated CK level 1500-3000 UI/L; dystrophic features; EMG myopathic" "" "" "" "IHC normal sarcolemma immunostaining" "" "" "" "" "" "asymptomatic, hyperCKemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 57 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081676" "00081546" "1" "01789" "01789" "2016-10-17 16:56:24" "00006" "2016-10-21 17:24:14" "SEQ-NG" "DNA" "" "" "0000104366" "00103908" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000111868" "00111404" "1" "00729" "00729" "2017-08-03 01:31:13" "" "" "SEQ-NG" "DNA" "" "" "0000119567" "00119098" "1" "02237" "02237" "2017-09-07 13:53:02" "" "" "SEQ-NG" "DNA" "Blood" "Whole exome sequencing, confirmed by bi-directional fluorescent sequencing" "0000119591" "00119122" "1" "00006" "00006" "2013-01-15 09:57:52" "" "" "SEQ" "DNA" "" "" "0000119592" "00119123" "1" "00006" "00006" "2013-01-15 09:57:52" "" "" "SEQ" "DNA" "" "" "0000119593" "00119124" "1" "00006" "00006" "2017-09-08 11:57:42" "00006" "2017-09-08 12:06:14" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000119594" "00119125" "1" "00006" "00006" "2017-09-08 11:57:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000119595" "00119126" "1" "00006" "00006" "2017-09-08 11:57:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000119596" "00119127" "1" "00006" "00006" "2017-09-08 11:57:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000119597" "00119128" "1" "00006" "00006" "2017-09-08 12:19:31" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000119598" "00119129" "1" "00006" "00006" "2017-09-08 13:04:14" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000119599" "00119130" "1" "00006" "00006" "2017-09-08 13:12:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000175682" "00174791" "1" "00006" "00006" "2018-08-10 19:10:48" "" "" "SEQ-NG" "DNA" "" "WES" "0000209804" "00208755" "1" "01164" "01164" "2018-12-14 14:03:29" "" "" "SEQ-NG" "DNA" "" "" "0000229276" "00228187" "1" "01807" "01807" "2019-03-20 12:20:12" "" "" "SEQ" "DNA" "" "" "0000267392" "00266270" "1" "00006" "00006" "2019-10-19 05:12:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000294763" "00293595" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294764" "00293596" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294765" "00293597" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294766" "00293598" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000315658" "00314485" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315659" "00314486" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315660" "00314487" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315661" "00314488" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400635" "00399393" "1" "00006" "00006" "2022-01-20 14:01:26" "00006" "2022-01-20 14:09:06" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "trio WES" "0000440259" "00438777" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440260" "00438778" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440261" "00438779" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440262" "00438780" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440263" "00438781" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440264" "00438782" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440265" "00438783" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440266" "00438784" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440267" "00438785" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440268" "00438786" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440269" "00438787" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440270" "00438788" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440271" "00438789" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440272" "00438790" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440273" "00438791" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440274" "00438792" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440275" "00438793" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440276" "00438794" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440277" "00438795" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440278" "00438796" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440279" "00438797" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440280" "00438798" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440281" "00438799" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440282" "00438800" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000440283" "00438801" "1" "00006" "00006" "2023-10-24 15:32:51" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000448479" "00446904" "1" "00447" "00447" "2024-01-25 19:21:27" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000448480" "00446904" "1" "00447" "00447" "2024-01-25 19:30:38" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000448481" "00446905" "1" "00447" "00447" "2024-01-25 19:44:12" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000448482" "00446906" "1" "00447" "00447" "2024-01-25 19:48:30" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000456152" "00454539" "1" "00006" "00006" "2024-09-13 17:19:08" "" "" "MLPA;SEQ-NG" "DNA" "" "" "0000461888" "00460257" "1" "00006" "00006" "2025-01-22 12:23:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{geneid}}" "0000081676" "TRAPPC11" "0000104366" "TRAPPC11" "0000111868" "TRAPPC11" "0000119591" "TRAPPC11" "0000119592" "TRAPPC11" "0000119593" "TRAPPC11" "0000119594" "TRAPPC11" "0000119595" "TRAPPC11" "0000119596" "TRAPPC11" "0000119597" "TRAPPC11" "0000119598" "TRAPPC11" "0000119599" "TRAPPC11" "0000267392" "TRAPPC11" "0000315658" "TRAPPC11" "0000315659" "TRAPPC11" "0000315660" "TRAPPC11" "0000315661" "TRAPPC11" "0000400635" "TRAPPC11" ## 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 = 122 "{{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}}" "0000132350" "21" "70" "4" "184603912" "184603912" "subst" "0" "01789" "TRAPPC11_000004" "g.184603912C>G" "" "submitted for publication" "" "" "" "Germline" "" "" "0" "" "" "g.183682759C>G" "" "likely pathogenic" "" "0000169046" "1" "90" "4" "184585162" "184585162" "subst" "4.06085E-6" "00006" "TRAPPC11_000005" "g.184585162C>T" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "NM_199053:c.142C>T (R48*)" "" "Germline" "" "" "0" "" "" "g.183664009C>T" "" "pathogenic" "" "0000169061" "2" "90" "4" "0" "0" "" "0" "00006" "TRAPPC11_000000" "g.?" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "NM_199053 g.27324T>A" "described variant unclear (NG_033102.1 not 27324T)" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000179026" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00729" "TRAPPC11_000003" "g.184605212G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.183684059G>A" "" "pathogenic" "ACMG" "0000195690" "21" "70" "4" "184585120" "184585120" "subst" "1.21819E-5" "02237" "TRAPPC11_000008" "g.184585120C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.183663967C>T" "" "likely pathogenic" "" "0000195691" "11" "90" "4" "184622936" "184622936" "subst" "6.90731E-5" "02237" "TRAPPC11_000001" "g.184622936G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.183701783G>A" "" "pathogenic" "" "0000195716" "3" "70" "4" "184618936" "184618936" "subst" "0.133167" "00006" "TRAPPC11_000002" "g.184618936G>C" "" "ASHG2012, Bogershausen, P2944, {PMID:Bögershausen 2013:23830518}" "" "g.184618936G>C" "homozygosity mapping" "Germline" "" "" "0" "" "" "g.183697783G>C" "" "likely pathogenic" "" "0000195717" "3" "70" "4" "184622936" "184622936" "subst" "6.90731E-5" "00006" "TRAPPC11_000001" "g.184622936G>A" "" "ASHG2012, Bogershausen, P2944, {PMID:Bögershausen 2013:23830518}, {OMIM614138:0001}" "" "" "WES and homozygosity mapping; not in 200 control chromosomes (Turkish)" "Germline" "yes" "" "0" "" "" "g.183701783G>A" "" "likely pathogenic" "" "0000195718" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Bögershausen 2013:23830518}, {OMIM614138:0002}" "" "" "" "Germline" "yes" "" "0" "" "" "g.183684059G>A" "" "pathogenic" "" "0000195719" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Bögershausen 2013:23830518}, {OMIM614138:0002}" "" "" "" "Germline" "yes" "" "0" "" "" "g.183684059G>A" "" "pathogenic" "" "0000195720" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Bögershausen 2013:23830518}, {OMIM614138:0002}" "" "" "" "Germline" "yes" "" "0" "" "" "g.183684059G>A" "" "pathogenic" "" "0000195721" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Bögershausen 2013:23830518}, {OMIM614138:0002}" "" "" "" "Germline" "yes" "" "0" "" "" "g.183684059G>A" "" "pathogenic" "" "0000195722" "11" "90" "4" "184622936" "184622936" "subst" "6.90731E-5" "00006" "TRAPPC11_000001" "g.184622936G>A" "" "{PMID:Liang 2015:26322222}, {DOI:Liang 2015:10.1186/s13395-015-0056-4}, {OMIM614138:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.183701783G>A" "" "pathogenic" "" "0000195723" "21" "90" "4" "184596316" "184596316" "subst" "0" "00006" "TRAPPC11_000006" "g.184596316G>T" "" "{PMID:Liang 2015:26322222}, {DOI:Liang 2015:10.1186/s13395-015-0056-4}, {OMIM614138:0003}" "" "" "" "Germline" "yes" "" "0" "" "" "g.183675163G>T" "" "pathogenic" "" "0000195724" "3" "90" "4" "184607904" "184607904" "subst" "0" "00006" "TRAPPC11_000007" "g.184607904A>G" "" "{PMID:Koehler 2017:27707803}, {DOI:Koehler 2017:10.1136/jmedgenet-2016-104108}, {OMIM614138:0004}" "" "" "level normal transcript 0.20" "Germline" "yes" "" "0" "" "" "g.183686751A>G" "" "pathogenic" "" "0000195725" "3" "90" "4" "184607904" "184607904" "subst" "0" "00006" "TRAPPC11_000007" "g.184607904A>G" "" "{PMID:Koehler 2017:27707803}, {DOI:Koehler 2017:10.1136/jmedgenet-2016-104108}, {OMIM614138:0004}" "" "" "" "Germline" "yes" "" "0" "" "" "g.183686751A>G" "" "pathogenic" "" "0000246247" "0" "10" "4" "184600601" "184600601" "subst" "0.446573" "02330" "TRAPPC11_000024" "g.184600601A>G" "" "" "" "TRAPPC11(NM_021942.6):c.927A>G (p.A309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183679448A>G" "" "benign" "" "0000246256" "0" "10" "4" "184615117" "184615117" "subst" "0.0815436" "02330" "TRAPPC11_000031" "g.184615117A>C" "" "" "" "TRAPPC11(NM_021942.6):c.2434A>C (p.T812P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183693964A>C" "" "benign" "" "0000256043" "0" "50" "4" "184598696" "184598696" "subst" "8.15315E-6" "01943" "TRAPPC11_000014" "g.184598696A>G" "" "" "" "TRAPPC11(NM_021942.5):c.820A>G (p.I274V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183677543A>G" "" "VUS" "" "0000256201" "0" "50" "4" "184587467" "184587467" "subst" "0" "01943" "TRAPPC11_000012" "g.184587467A>G" "" "" "" "TRAPPC11(NM_021942.5):c.262A>G (p.K88E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183666314A>G" "" "VUS" "" "0000256445" "0" "50" "4" "184606539" "184606539" "subst" "5.68565E-5" "01943" "TRAPPC11_000017" "g.184606539A>G" "" "" "" "TRAPPC11(NM_021942.5):c.1745A>G (p.Q582R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183685386A>G" "" "VUS" "" "0000309449" "0" "10" "4" "184585015" "184585015" "subst" "0.0367143" "02330" "TRAPPC11_000009" "g.184585015G>A" "" "" "" "TRAPPC11(NM_021942.6):c.-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183663862G>A" "" "benign" "" "0000309450" "0" "30" "4" "184585165" "184585165" "subst" "0.0141845" "02330" "TRAPPC11_000010" "g.184585165G>C" "" "" "" "TRAPPC11(NM_021942.5):c.145G>C (p.(Val49Leu)), TRAPPC11(NM_021942.6):c.145G>C (p.V49L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183664012G>C" "" "likely benign" "" "0000309451" "0" "10" "4" "184612553" "184612553" "subst" "0.084626" "02330" "TRAPPC11_000026" "g.184612553G>C" "" "" "" "TRAPPC11(NM_021942.6):c.1978G>C (p.V660L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183691400G>C" "" "benign" "" "0000309452" "0" "10" "4" "184614874" "184614874" "subst" "0.217323" "02330" "TRAPPC11_000018" "g.184614874C>T" "" "" "" "TRAPPC11(NM_021942.6):c.2370C>T (p.T790=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183693721C>T" "" "benign" "" "0000309453" "0" "10" "4" "184615886" "184615886" "del" "0" "02330" "TRAPPC11_000020" "g.184615886del" "" "" "" "TRAPPC11(NM_021942.5):c.2628+10delT, TRAPPC11(NM_021942.6):c.2628+10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183694733del" "" "benign" "" "0000309454" "0" "10" "4" "184618936" "184618936" "subst" "0.133167" "02330" "TRAPPC11_000002" "g.184618936G>C" "" "" "" "TRAPPC11(NM_021942.6):c.2799G>C (p.Q933H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183697783G>C" "" "benign" "" "0000309455" "0" "10" "4" "184596314" "184596314" "del" "0" "02330" "TRAPPC11_000013" "g.184596314del" "" "" "" "TRAPPC11(NM_021942.6):c.661-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183675161del" "" "benign" "" "0000309456" "0" "10" "4" "184600571" "184600571" "subst" "0.0575049" "02330" "TRAPPC11_000015" "g.184600571C>A" "" "" "" "TRAPPC11(NM_021942.6):c.897C>A (p.I299=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183679418C>A" "" "benign" "" "0000314816" "0" "70" "4" "184605212" "184605212" "subst" "5.68819E-5" "02326" "TRAPPC11_000003" "g.184605212G>A" "" "" "" "TRAPPC11(NM_021942.6):c.1287+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183684059G>A" "" "likely pathogenic" "" "0000314817" "0" "30" "4" "184618683" "184618683" "subst" "0.00083581" "02326" "TRAPPC11_000032" "g.184618683T>A" "" "" "" "TRAPPC11(NM_021942.6):c.2656T>A (p.F886I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183697530T>A" "" "likely benign" "" "0000317007" "0" "30" "4" "184605217" "184605217" "subst" "0.00130027" "01943" "TRAPPC11_000029" "g.184605217G>A" "" "" "" "TRAPPC11(NM_021942.5):c.1287+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183684064G>A" "" "likely benign" "" "0000317008" "0" "50" "4" "184615102" "184615102" "subst" "0.00026831" "01943" "TRAPPC11_000019" "g.184615102G>A" "" "" "" "TRAPPC11(NM_021942.5):c.2419G>A (p.V807M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183693949G>A" "" "VUS" "" "0000317009" "0" "10" "4" "184626187" "184626187" "subst" "0.00414012" "01943" "TRAPPC11_000027" "g.184626187G>A" "" "" "" "TRAPPC11(NM_021942.5):c.3019G>A (p.V1007M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183705034G>A" "" "benign" "" "0000317010" "0" "50" "4" "184633795" "184633795" "subst" "0.000203085" "01943" "TRAPPC11_000033" "g.184633795T>C" "" "" "" "TRAPPC11(NM_021942.5):c.3400T>C (p.*1134Rext*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183712642T>C" "" "VUS" "" "0000330192" "0" "30" "4" "184587424" "184587424" "subst" "0.0038766" "01804" "TRAPPC11_000011" "g.184587424G>C" "" "" "" "TRAPPC11(NM_021942.5):c.219G>C (p.E73D, p.(Glu73Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183666271G>C" "" "likely benign" "" "0000330193" "0" "50" "4" "184605123" "184605123" "subst" "0.000219423" "01804" "TRAPPC11_000016" "g.184605123C>T" "" "" "" "TRAPPC11(NM_021942.5):c.1208-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183683970C>T" "" "VUS" "" "0000330194" "0" "90" "4" "184622936" "184622936" "subst" "6.90731E-5" "01804" "TRAPPC11_000001" "g.184622936G>A" "" "" "" "TRAPPC11(NM_021942.5):c.2938G>A (p.(Gly980Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183701783G>A" "" "pathogenic" "" "0000330195" "0" "50" "4" "184629699" "184629699" "subst" "0.00141465" "01804" "TRAPPC11_000021" "g.184629699G>A" "" "" "" "TRAPPC11(NM_021942.5):c.3329G>A (p.(Arg1110His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183708546G>A" "" "VUS" "" "0000339578" "0" "10" "4" "184600601" "184600601" "subst" "0.446573" "02327" "TRAPPC11_000024" "g.184600601A>G" "" "" "" "TRAPPC11(NM_021942.6):c.927A>G (p.A309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183679448A>G" "" "benign" "" "0000339579" "0" "10" "4" "184614874" "184614874" "subst" "0.217323" "02327" "TRAPPC11_000018" "g.184614874C>T" "" "" "" "TRAPPC11(NM_021942.6):c.2370C>T (p.T790=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183693721C>T" "" "benign" "" "0000348115" "0" "50" "4" "184627996" "184627996" "subst" "0.00108066" "02327" "TRAPPC11_000028" "g.184627996C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183706843C>G" "" "VUS" "" "0000348744" "0" "50" "4" "184589174" "184589174" "subst" "0" "02327" "TRAPPC11_000022" "g.184589174C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183668021C>T" "" "VUS" "" "0000350627" "0" "10" "4" "184612553" "184612553" "subst" "0.084626" "02327" "TRAPPC11_000026" "g.184612553G>C" "" "" "" "TRAPPC11(NM_021942.6):c.1978G>C (p.V660L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183691400G>C" "" "benign" "" "0000398564" "3" "70" "4" "184585097" "184585097" "subst" "0" "00006" "TRAPPC11_000034" "g.184585097A>G" "" "{PMID:Fichna 2018:29970176}" "" "" "ACMG grading: PS4, PM2, PM3, PP3; additional variants in NEB , ITGA7, POMGNT1" "Germline" "" "" "0" "" "" "g.183663944A>G" "" "likely pathogenic" "ACMG" "0000440022" "0" "50" "4" "184618683" "184618683" "subst" "0.00083581" "01164" "TRAPPC11_000032" "g.184618683T>A" "" "" "" "" "" "Germline" "" "rs376514277" "0" "" "" "g.183697530T>A" "" "VUS" "ACMG" "0000470433" "0" "70" "4" "184606513" "184606513" "del" "0" "01807" "TRAPPC11_000025" "g.184606513del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.183685360del" "" "likely pathogenic" "" "0000522216" "0" "30" "4" "184585165" "184585165" "subst" "0.0141845" "01804" "TRAPPC11_000010" "g.184585165G>C" "" "" "" "TRAPPC11(NM_021942.5):c.145G>C (p.(Val49Leu)), TRAPPC11(NM_021942.6):c.145G>C (p.V49L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183664012G>C" "" "likely benign" "" "0000522217" "0" "50" "4" "184587424" "184587424" "subst" "0.0038766" "01943" "TRAPPC11_000011" "g.184587424G>C" "" "" "" "TRAPPC11(NM_021942.5):c.219G>C (p.E73D, p.(Glu73Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183666271G>C" "" "VUS" "" "0000522219" "0" "50" "4" "184600503" "184600503" "subst" "3.2411E-5" "01943" "TRAPPC11_000035" "g.184600503C>A" "" "" "" "TRAPPC11(NM_021942.5):c.832-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183679350C>A" "" "VUS" "" "0000522222" "0" "30" "4" "184605369" "184605369" "subst" "0" "01804" "TRAPPC11_000037" "g.184605369T>A" "" "" "" "TRAPPC11(NM_021942.5):c.1359T>A (p.(Ser453Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183684216T>A" "" "likely benign" "" "0000522223" "0" "30" "4" "184605846" "184605846" "subst" "0.00221197" "01804" "TRAPPC11_000038" "g.184605846G>A" "" "" "" "TRAPPC11(NM_021942.5):c.1422-3G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183684693G>A" "" "likely benign" "" "0000522224" "0" "30" "4" "184614225" "184614225" "subst" "4.07488E-6" "01804" "TRAPPC11_000039" "g.184614225G>T" "" "" "" "TRAPPC11(NM_021942.5):c.2162G>T (p.(Arg721Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183693072G>T" "" "likely benign" "" "0000522226" "0" "50" "4" "184615166" "184615166" "subst" "0.00796754" "02330" "TRAPPC11_000041" "g.184615166T>C" "" "" "" "TRAPPC11(NM_021942.5):c.2483T>C (p.V828A), TRAPPC11(NM_021942.6):c.2483T>C (p.V828A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183694013T>C" "" "VUS" "" "0000522227" "0" "30" "4" "184615166" "184615166" "subst" "0.00796754" "01943" "TRAPPC11_000041" "g.184615166T>C" "" "" "" "TRAPPC11(NM_021942.5):c.2483T>C (p.V828A), TRAPPC11(NM_021942.6):c.2483T>C (p.V828A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183694013T>C" "" "likely benign" "" "0000522228" "0" "50" "4" "184629612" "184629612" "subst" "4.06184E-6" "01804" "TRAPPC11_000042" "g.184629612A>G" "" "" "" "TRAPPC11(NM_021942.5):c.3242A>G (p.(Tyr1081Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183708459A>G" "" "VUS" "" "0000598449" "1" "90" "4" "184585162" "184585162" "subst" "4.06085E-6" "00006" "TRAPPC11_000005" "g.184585162C>T" "" "Bharatendu 2019, ASHG P1254" "" "" "" "Germline" "" "" "0" "" "" "g.183664009C>T" "" "pathogenic (recessive)" "" "0000598450" "2" "90" "4" "184622936" "184622936" "subst" "6.90731E-5" "00006" "TRAPPC11_000001" "g.184622936G>A" "" "Bharatendu 2019, ASHG P1254" "" "" "" "Germline" "" "" "0" "" "" "g.183701783G>A" "" "pathogenic (recessive)" "" "0000609138" "0" "30" "4" "184615144" "184615144" "subst" "0.000816974" "01804" "TRAPPC11_000043" "g.184615144G>A" "" "" "" "TRAPPC11(NM_021942.5):c.2461G>A (p.(Ala821Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183693991G>A" "" "likely benign" "" "0000621381" "0" "30" "4" "184615886" "184615886" "del" "0" "01943" "TRAPPC11_000020" "g.184615886del" "" "" "" "TRAPPC11(NM_021942.5):c.2628+10delT, TRAPPC11(NM_021942.6):c.2628+10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183694733del" "" "likely benign" "" "0000651452" "1" "10" "4" "184585015" "184585015" "subst" "0.0367143" "03575" "TRAPPC11_000009" "g.184585015G>A" "45/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "45 heterozygous, no homozygous; {DB:CLININrs113604435}" "Germline" "" "rs113604435" "0" "" "" "g.183663862G>A" "" "benign" "" "0000651453" "1" "50" "4" "184600605" "184600605" "subst" "0.000568298" "03575" "TRAPPC11_000044" "g.184600605C>G" "1/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs148833310}" "Germline" "" "rs148833310" "0" "" "" "g.183679452C>G" "" "VUS" "" "0000651454" "1" "30" "4" "184626187" "184626187" "subst" "0.00414012" "03575" "TRAPPC11_000027" "g.184626187G>A" "20/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "20 heterozygous, no homozygous; {DB:CLININrs79804817}" "Germline" "" "rs79804817" "0" "" "" "g.183705034G>A" "" "likely benign" "" "0000651455" "1" "50" "4" "184627996" "184627996" "subst" "0.00108066" "03575" "TRAPPC11_000028" "g.184627996C>G" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs200466260}" "Germline" "" "rs200466260" "0" "" "" "g.183706843C>G" "" "VUS" "" "0000689270" "0" "50" "4" "184600605" "184600605" "subst" "0.000568298" "01943" "TRAPPC11_000044" "g.184600605C>G" "" "" "" "TRAPPC11(NM_021942.5):c.931C>G (p.L311V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000697747" "0" "70" "4" "184585097" "184585097" "subst" "0" "00006" "TRAPPC11_000034" "g.184585097A>G" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.183663944A>G" "" "likely pathogenic" "" "0000697748" "0" "70" "4" "184622936" "184622936" "subst" "6.90731E-5" "00006" "TRAPPC11_000001" "g.184622936G>A" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.183701783G>A" "" "likely pathogenic" "" "0000697749" "0" "70" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "likely pathogenic" "" "0000697750" "0" "70" "4" "184633774" "184633775" "ins" "0" "00006" "TRAPPC11_000045" "g.184633774_184633775insT" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.183712621_183712622insT" "" "likely pathogenic" "" "0000719856" "0" "70" "4" "184605212" "184605212" "subst" "5.68819E-5" "02329" "TRAPPC11_000003" "g.184605212G>A" "" "" "" "TRAPPC11(NM_021942.6):c.1287+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000719857" "0" "30" "4" "184605293" "184605293" "subst" "4.06951E-5" "01943" "TRAPPC11_000046" "g.184605293A>G" "" "" "" "TRAPPC11(NM_021942.5):c.1288-5A>G, TRAPPC11(NM_021942.6):c.1288-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719858" "0" "30" "4" "184614095" "184614095" "subst" "0.000411381" "02326" "TRAPPC11_000047" "g.184614095C>T" "" "" "" "TRAPPC11(NM_021942.6):c.2050-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719859" "0" "30" "4" "184614210" "184614210" "subst" "0.000593708" "01943" "TRAPPC11_000048" "g.184614210C>G" "" "" "" "TRAPPC11(NM_021942.5):c.2147C>G (p.A716G, p.(Ala716Gly)), TRAPPC11(NM_021942.6):c.2147C>G (p.A716G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719860" "0" "50" "4" "184614834" "184614834" "subst" "0" "01943" "TRAPPC11_000049" "g.184614834A>G" "" "" "" "TRAPPC11(NM_021942.5):c.2330A>G (p.Q777R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719861" "0" "30" "4" "184615071" "184615071" "subst" "0.00150455" "01943" "TRAPPC11_000030" "g.184615071A>C" "" "" "" "TRAPPC11(NM_021942.5):c.2388A>C (p.G796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719862" "0" "50" "4" "184626166" "184626166" "subst" "0" "01943" "TRAPPC11_000050" "g.184626166A>C" "" "" "" "TRAPPC11(NM_021942.5):c.2998A>C (p.T1000P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801596" "0" "30" "4" "184607796" "184607796" "subst" "0" "01943" "TRAPPC11_000051" "g.184607796C>T" "" "" "" "TRAPPC11(NM_021942.5):c.1788C>T (p.A596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000833592" "1" "70" "4" "184600525" "184600525" "subst" "0" "00006" "TRAPPC11_000052" "g.184600525A>C" "" "{PMID:Larson 2018:29855340}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000833593" "2" "90" "4" "184600644" "184600644" "subst" "4.4249E-6" "00006" "TRAPPC11_000053" "g.184600644G>T" "" "{PMID:Larson 2018:29855340}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000850577" "0" "30" "4" "184605293" "184605293" "subst" "4.06951E-5" "02326" "TRAPPC11_000046" "g.184605293A>G" "" "" "" "TRAPPC11(NM_021942.5):c.1288-5A>G, TRAPPC11(NM_021942.6):c.1288-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886220" "0" "50" "4" "184601362" "184601362" "subst" "1.62439E-5" "02329" "TRAPPC11_000054" "g.184601362A>G" "" "" "" "TRAPPC11(NM_021942.6):c.1055A>G (p.Q352R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000936588" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936589" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936590" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936591" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936592" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936593" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936594" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936595" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936596" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936597" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936598" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936599" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936600" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936601" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936602" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936603" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936604" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936605" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936606" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936607" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936608" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936609" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936610" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936611" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000936612" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Justel 2023: 37197784}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0000957963" "0" "90" "4" "184585097" "184585097" "subst" "0" "00447" "TRAPPC11_000034" "g.184585097A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.183663944A>G" "" "pathogenic (recessive)" "" "0000957964" "0" "90" "4" "184593471" "184600588" "del" "0" "00447" "TRAPPC11_000055" "g.184593471_184600588del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.183672318_183679435del" "" "pathogenic (recessive)" "" "0000957965" "0" "90" "4" "184605203" "184605203" "subst" "0" "00447" "TRAPPC11_000056" "g.184605203A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.183684050A>G" "" "pathogenic (recessive)" "" "0000957966" "0" "90" "4" "184618604" "184621047" "delins" "0" "00447" "TRAPPC11_000057" "g.184618604_184621047delinsTAAAACTTTAAAGCTTTAAAAA" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.183697451_183699894delinsTAAAACTTTAAAGCTTTAAAAA" "" "pathogenic (recessive)" "" "0000957967" "0" "90" "4" "184622856" "184622856" "subst" "0" "00447" "TRAPPC11_000058" "g.184622856T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.183701703T>C" "" "pathogenic (recessive)" "" "0000957968" "0" "90" "4" "184621040" "184642189" "del" "0" "00447" "TRAPPC11_000059" "g.184621040_184642189del" "" "" "" "c.2852-1810_*8392del" "" "Germline" "" "" "0" "" "" "g.183699887_183721036del" "" "pathogenic (recessive)" "" "0000976235" "0" "50" "4" "184605356" "184605356" "subst" "0" "01804" "TRAPPC11_000060" "g.184605356C>G" "" "" "" "TRAPPC11(NM_021942.6):c.1346C>G (p.(Pro449Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976236" "0" "50" "4" "184605381" "184605381" "subst" "2.03221E-5" "01804" "TRAPPC11_000061" "g.184605381G>A" "" "" "" "TRAPPC11(NM_021942.6):c.1366+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976237" "0" "50" "4" "184615191" "184615191" "subst" "0.000216355" "01804" "TRAPPC11_000062" "g.184615191G>A" "" "" "" "TRAPPC11(NM_021942.6):c.2508G>A (p.(Gln836=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994225" "0" "50" "4" "184588206" "184588206" "subst" "0" "01804" "TRAPPC11_000063" "g.184588206A>G" "" "" "" "TRAPPC11(NM_021942.5):c.375-7A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994226" "0" "30" "4" "184614210" "184614210" "subst" "0.000593708" "01804" "TRAPPC11_000048" "g.184614210C>G" "" "" "" "TRAPPC11(NM_021942.5):c.2147C>G (p.A716G, p.(Ala716Gly)), TRAPPC11(NM_021942.6):c.2147C>G (p.A716G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994227" "0" "30" "4" "184614210" "184614210" "subst" "0.000593708" "02326" "TRAPPC11_000048" "g.184614210C>G" "" "" "" "TRAPPC11(NM_021942.5):c.2147C>G (p.A716G, p.(Ala716Gly)), TRAPPC11(NM_021942.6):c.2147C>G (p.A716G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001008321" "0" "90" "4" "184596369" "184596369" "subst" "4.53083E-6" "00006" "TRAPPC11_000064" "g.184596369A>C" "" "{PMID:Xie 2024:39198981}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.183675216A>C" "" "pathogenic" "" "0001021254" "3" "90" "4" "184605212" "184605212" "subst" "5.68819E-5" "00006" "TRAPPC11_000003" "g.184605212G>A" "" "{PMID:Marti 2025:39666917}" "" "" "" "Germline" "" "" "0" "" "" "g.183684059G>A" "" "pathogenic (recessive)" "" "0001034463" "0" "50" "4" "184603950" "184603950" "subst" "1.2187E-5" "01804" "TRAPPC11_000065" "g.184603950A>G" "" "" "" "TRAPPC11(NM_021942.6):c.1179A>G (p.(Gly393=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034464" "0" "50" "4" "184614747" "184614747" "subst" "8.37276E-6" "01804" "TRAPPC11_000066" "g.184614747T>C" "" "" "" "TRAPPC11(NM_021942.6):c.2243T>C (p.(Ile748Thr))" "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 TRAPPC11 ## Count = 122 "{{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}}" "0000132350" "00021766" "70" "1141" "0" "1141" "0" "c.1141C>G" "r.(1141c>g)" "p.(Pro381Ala)" "11" "0000169046" "00021766" "90" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.(Arg48*)" "2" "0000169061" "00021766" "90" "0" "0" "0" "0" "c.?" "r.spl?" "p.?" "" "0000179026" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.spl?" "p.?" "" "0000195690" "00021766" "70" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Arg34*)" "2" "0000195691" "00021766" "90" "2938" "0" "2938" "0" "c.2938G>A" "r.(?)" "p.(Gly980Arg)" "26" "0000195716" "00021766" "70" "2799" "0" "2799" "0" "c.2799G>C" "r.(?)" "p.(Gln933His)" "25" "0000195717" "00021766" "70" "2938" "0" "2938" "0" "c.2938G>A" "r.(?)" "p.(Gly980Arg)" "26" "0000195718" "00021766" "70" "1287" "5" "1287" "5" "c.1287+5G>A" "r.[1114_1287del, 1208_1287del]" "p.[Ala372_Ser429del, Ser403fs]" "12i" "0000195719" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.spl" "p.?" "12i" "0000195720" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.spl" "p.?" "12i" "0000195721" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.spl" "p.?" "12i" "0000195722" "00021766" "90" "2938" "0" "2938" "0" "c.2938G>A" "r.(?)" "p.(Gly980Arg)" "26" "0000195723" "00021766" "90" "661" "-1" "661" "-1" "c.661-1G>T" "r.[661_674del, 661_674delins661+1_661+58]" "p.0" "6i" "0000195724" "00021766" "90" "1893" "3" "1893" "3" "c.1893+3A>G" "r.[1763_1893del,=]" "p.[Val588fs, =]" "18i" "0000195725" "00021766" "90" "1893" "3" "1893" "3" "c.1893+3A>G" "r.spl" "p.?" "18i" "0000246247" "00021766" "10" "927" "0" "927" "0" "c.927A>G" "r.(?)" "p.(Ala309=)" "" "0000246256" "00021766" "10" "2434" "0" "2434" "0" "c.2434A>C" "r.(?)" "p.(Thr812Pro)" "" "0000256043" "00021766" "50" "820" "0" "820" "0" "c.820A>G" "r.(?)" "p.(Ile274Val)" "" "0000256201" "00021766" "50" "262" "0" "262" "0" "c.262A>G" "r.(?)" "p.(Lys88Glu)" "" "0000256445" "00021766" "50" "1745" "0" "1745" "0" "c.1745A>G" "r.(?)" "p.(Gln582Arg)" "" "0000309449" "00021766" "10" "-6" "0" "-6" "0" "c.-6G>A" "r.(?)" "p.(=)" "" "0000309450" "00021766" "30" "145" "0" "145" "0" "c.145G>C" "r.(?)" "p.(Val49Leu)" "" "0000309451" "00021766" "10" "1978" "0" "1978" "0" "c.1978G>C" "r.(?)" "p.(Val660Leu)" "" "0000309452" "00021766" "10" "2370" "0" "2370" "0" "c.2370C>T" "r.(?)" "p.(Thr790=)" "" "0000309453" "00021766" "10" "2628" "10" "2628" "10" "c.2628+10del" "r.(=)" "p.(=)" "" "0000309454" "00021766" "10" "2799" "0" "2799" "0" "c.2799G>C" "r.(?)" "p.(Gln933His)" "" "0000309455" "00021766" "10" "661" "-3" "661" "-3" "c.661-3del" "r.spl?" "p.?" "" "0000309456" "00021766" "10" "897" "0" "897" "0" "c.897C>A" "r.(?)" "p.(Ile299=)" "" "0000314816" "00021766" "70" "1287" "5" "1287" "5" "c.1287+5G>A" "r.spl?" "p.?" "" "0000314817" "00021766" "30" "2656" "0" "2656" "0" "c.2656T>A" "r.(?)" "p.(Phe886Ile)" "" "0000317007" "00021766" "30" "1287" "10" "1287" "10" "c.1287+10G>A" "r.(=)" "p.(=)" "" "0000317008" "00021766" "50" "2419" "0" "2419" "0" "c.2419G>A" "r.(?)" "p.(Val807Met)" "" "0000317009" "00021766" "10" "3019" "0" "3019" "0" "c.3019G>A" "r.(?)" "p.(Val1007Met)" "" "0000317010" "00021766" "50" "3400" "0" "3400" "0" "c.3400T>C" "r.(?)" "p.(Ter1134ArgextTer23)" "" "0000330192" "00021766" "30" "219" "0" "219" "0" "c.219G>C" "r.(?)" "p.(Glu73Asp)" "" "0000330193" "00021766" "50" "1208" "-5" "1208" "-5" "c.1208-5C>T" "r.spl?" "p.?" "" "0000330194" "00021766" "90" "2938" "0" "2938" "0" "c.2938G>A" "r.(?)" "p.(Gly980Arg)" "" "0000330195" "00021766" "50" "3329" "0" "3329" "0" "c.3329G>A" "r.(?)" "p.(Arg1110His)" "" "0000339578" "00021766" "10" "927" "0" "927" "0" "c.927A>G" "r.(?)" "p.(Ala309=)" "" "0000339579" "00021766" "10" "2370" "0" "2370" "0" "c.2370C>T" "r.(?)" "p.(Thr790=)" "" "0000348115" "00021766" "50" "3092" "0" "3092" "0" "c.3092C>G" "r.(?)" "p.(Pro1031Arg)" "" "0000348744" "00021766" "50" "464" "0" "464" "0" "c.464C>T" "r.(?)" "p.(Ser155Leu)" "" "0000350627" "00021766" "10" "1978" "0" "1978" "0" "c.1978G>C" "r.(?)" "p.(Val660Leu)" "" "0000398564" "00021766" "70" "77" "0" "77" "0" "c.77A>G" "r.(?)" "p.(Asp26Gly)" "" "0000440022" "00021766" "50" "2656" "0" "2656" "0" "c.2656T>A" "r.(?)" "p.Phe886Ile" "" "0000470433" "00021766" "70" "1719" "0" "1719" "0" "c.1719del" "r.(?)" "p.Ser574Alafs*6" "" "0000522216" "00021766" "30" "145" "0" "145" "0" "c.145G>C" "r.(?)" "p.(Val49Leu)" "" "0000522217" "00021766" "50" "219" "0" "219" "0" "c.219G>C" "r.(?)" "p.(Glu73Asp)" "" "0000522219" "00021766" "50" "832" "-3" "832" "-3" "c.832-3C>A" "r.spl?" "p.?" "" "0000522222" "00021766" "30" "1359" "0" "1359" "0" "c.1359T>A" "r.(?)" "p.(Ser453Arg)" "" "0000522223" "00021766" "30" "1422" "-3" "1422" "-3" "c.1422-3G>A" "r.spl?" "p.?" "" "0000522224" "00021766" "30" "2162" "0" "2162" "0" "c.2162G>T" "r.(?)" "p.(Arg721Leu)" "" "0000522226" "00021766" "50" "2483" "0" "2483" "0" "c.2483T>C" "r.(?)" "p.(Val828Ala)" "" "0000522227" "00021766" "30" "2483" "0" "2483" "0" "c.2483T>C" "r.(?)" "p.(Val828Ala)" "" "0000522228" "00021766" "50" "3242" "0" "3242" "0" "c.3242A>G" "r.(?)" "p.(Tyr1081Cys)" "" "0000598449" "00021766" "90" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.(Arg48*)" "" "0000598450" "00021766" "90" "2938" "0" "2938" "0" "c.2938G>A" "r.(?)" "p.(Gly980Arg)" "" "0000609138" "00021766" "30" "2461" "0" "2461" "0" "c.2461G>A" "r.(?)" "p.(Ala821Thr)" "" "0000621381" "00021766" "30" "2628" "10" "2628" "10" "c.2628+10del" "r.(=)" "p.(=)" "" "0000651452" "00021766" "10" "-6" "0" "-6" "0" "c.-6G>A" "r.(=)" "p.(=)" "" "0000651453" "00021766" "50" "931" "0" "931" "0" "c.931C>G" "r.(?)" "p.(Leu311Val)" "" "0000651454" "00021766" "30" "3019" "0" "3019" "0" "c.3019G>A" "r.(?)" "p.(Val1007Met)" "" "0000651455" "00021766" "50" "3092" "0" "3092" "0" "c.3092C>G" "r.(?)" "p.(Pro1031Arg)" "" "0000689270" "00021766" "50" "931" "0" "931" "0" "c.931C>G" "r.(?)" "p.(Leu311Val)" "" "0000697747" "00021766" "70" "77" "0" "77" "0" "c.77A>G" "r.(?)" "p.(Asp26Gly)" "" "0000697748" "00021766" "70" "2938" "0" "2938" "0" "c.2938G>A" "r.(?)" "p.(Gly980Arg)" "" "0000697749" "00021766" "70" "1287" "5" "1287" "5" "c.1287+5G>A" "r.spl?" "p.?" "" "0000697750" "00021766" "70" "3379" "0" "3380" "0" "c.3379_3380insT" "r.(?)" "p.(Asp1127Valfs*47)" "" "0000719856" "00021766" "70" "1287" "5" "1287" "5" "c.1287+5G>A" "r.spl?" "p.?" "" "0000719857" "00021766" "30" "1288" "-5" "1288" "-5" "c.1288-5A>G" "r.spl?" "p.?" "" "0000719858" "00021766" "30" "2050" "-18" "2050" "-18" "c.2050-18C>T" "r.(=)" "p.(=)" "" "0000719859" "00021766" "30" "2147" "0" "2147" "0" "c.2147C>G" "r.(?)" "p.(Ala716Gly)" "" "0000719860" "00021766" "50" "2330" "0" "2330" "0" "c.2330A>G" "r.(?)" "p.(Gln777Arg)" "" "0000719861" "00021766" "30" "2388" "0" "2388" "0" "c.2388A>C" "r.(?)" "p.(Gly796=)" "" "0000719862" "00021766" "50" "2998" "0" "2998" "0" "c.2998A>C" "r.(?)" "p.(Thr1000Pro)" "" "0000801596" "00021766" "30" "1788" "0" "1788" "0" "c.1788C>T" "r.(?)" "p.(Ala596=)" "" "0000833592" "00021766" "70" "851" "0" "851" "0" "c.851A>C" "r.(?)" "p.(Gln284Pro)" "" "0000833593" "00021766" "90" "965" "5" "965" "5" "c.965+5G>T" "r.832_1053del" "p.Ile278_Gln351del" "9i" "0000850577" "00021766" "30" "1288" "-5" "1288" "-5" "c.1288-5A>G" "r.spl?" "p.?" "" "0000886220" "00021766" "50" "1055" "0" "1055" "0" "c.1055A>G" "r.(?)" "p.(Gln352Arg)" "" "0000936588" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936589" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936590" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936591" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936592" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936593" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936594" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936595" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936596" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936597" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936598" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936599" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936600" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936601" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936602" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936603" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936604" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936605" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936606" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936607" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936608" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936609" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936610" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936611" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.(1114_1287del)" "p.(Ala372_Ser429del)" "" "0000936612" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.spl" "p.(Ala372_Ser429del)" "" "0000957963" "00021766" "90" "77" "0" "77" "0" "c.77A>G" "r.(?)" "p.(Asp26Gly)" "" "0000957964" "00021766" "90" "561" "-2395" "914" "0" "c.561-2395_914del" "r.?" "p.?" "" "0000957965" "00021766" "90" "1283" "0" "1283" "0" "c.1283A>G" "r.(?)" "p.(His428Arg)" "" "0000957966" "00021766" "90" "2629" "-52" "2852" "-1803" "c.2629-52_2852-1803delinsTAAAACTTTAAAGCTTTAAAAA" "r.?" "p.?" "" "0000957967" "00021766" "90" "2858" "0" "2858" "0" "c.2858T>C" "r.(?)" "p.(Leu953Ser)" "" "0000957968" "00021766" "90" "0" "0" "0" "0" "c.2852-1810_*950{0}" "r.0?" "p.0?" "25i_30_" "0000976235" "00021766" "50" "1346" "0" "1346" "0" "c.1346C>G" "r.(?)" "p.(Pro449Arg)" "" "0000976236" "00021766" "50" "1366" "5" "1366" "5" "c.1366+5G>A" "r.spl?" "p.?" "" "0000976237" "00021766" "50" "2508" "0" "2508" "0" "c.2508G>A" "r.(?)" "p.(=)" "" "0000994225" "00021766" "50" "375" "-7" "375" "-7" "c.375-7A>G" "r.(=)" "p.(=)" "" "0000994226" "00021766" "30" "2147" "0" "2147" "0" "c.2147C>G" "r.(?)" "p.(Ala716Gly)" "" "0000994227" "00021766" "30" "2147" "0" "2147" "0" "c.2147C>G" "r.(?)" "p.(Ala716Gly)" "" "0001008321" "00021766" "90" "713" "0" "713" "0" "c.713A>C" "r.(?)" "p.(Gln238Pro)" "" "0001021254" "00021766" "90" "1287" "5" "1287" "5" "c.1287+5G>A" "r.spl?" "p.?" "" "0001034463" "00021766" "50" "1179" "0" "1179" "0" "c.1179A>G" "r.(?)" "p.(=)" "" "0001034464" "00021766" "50" "2243" "0" "2243" "0" "c.2243T>C" "r.(?)" "p.(Ile748Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 64 "{{screeningid}}" "{{variantid}}" "0000081676" "0000132350" "0000104366" "0000169046" "0000104366" "0000169061" "0000111868" "0000179026" "0000119567" "0000195690" "0000119567" "0000195691" "0000119591" "0000195716" "0000119592" "0000195717" "0000119593" "0000195718" "0000119594" "0000195719" "0000119595" "0000195720" "0000119596" "0000195721" "0000119597" "0000195722" "0000119597" "0000195723" "0000119598" "0000195724" "0000119599" "0000195725" "0000175682" "0000398564" "0000209804" "0000440022" "0000229276" "0000470433" "0000267392" "0000598449" "0000267392" "0000598450" "0000294763" "0000651452" "0000294764" "0000651453" "0000294765" "0000651454" "0000294766" "0000651455" "0000315658" "0000697747" "0000315659" "0000697748" "0000315660" "0000697749" "0000315661" "0000697750" "0000400635" "0000833592" "0000400635" "0000833593" "0000440259" "0000936588" "0000440260" "0000936589" "0000440261" "0000936590" "0000440262" "0000936591" "0000440263" "0000936592" "0000440264" "0000936593" "0000440265" "0000936594" "0000440266" "0000936595" "0000440267" "0000936596" "0000440268" "0000936597" "0000440269" "0000936598" "0000440270" "0000936599" "0000440271" "0000936600" "0000440272" "0000936601" "0000440273" "0000936602" "0000440274" "0000936603" "0000440275" "0000936604" "0000440276" "0000936605" "0000440277" "0000936606" "0000440278" "0000936607" "0000440279" "0000936608" "0000440280" "0000936609" "0000440281" "0000936610" "0000440282" "0000936611" "0000440283" "0000936612" "0000448479" "0000957963" "0000448480" "0000957964" "0000448481" "0000957965" "0000448481" "0000957966" "0000448482" "0000957967" "0000448482" "0000957968" "0000456152" "0001008321" "0000461888" "0001021254"