### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRIO) # 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}}" "TRIO" "trio Rho guanine nucleotide exchange factor" "5" "p14-p15.1" "unknown" "NG_052962.1" "UD_132438429040" "" "https://www.LOVD.nl/TRIO" "" "1" "12303" "7204" "601893" "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/TRIO_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2017-12-01 10:34:25" "00000" "2025-08-29 09:49:04" ## 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}}" "00001400" "TRIO" "triple functional domain (PTPRF interacting)" "001" "NM_007118.2" "" "NP_009049.2" "" "" "" "-6" "10221" "9294" "14143829" "14509458" "00000" "2012-09-13 13:30:54" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "05527" "MRD44" "mental retardation, autosomal dominant, type 44 (MRD-44)" "AD" "617061" "" "autosomal dominant" "" "00006" "2018-12-02 17:43:30" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06687" "MRD63" "Intellectual developmental disorder, autosomal dominant 63, with macrocephaly" "AD" "618825" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TRIO" "05527" "TRIO" "06687" ## Individuals ## Do not remove or alter this header ## ## Count = 51 "{{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}}" "00000024" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00024238" "" "" "" "1" "" "00006" "{PMID:Gilissen 2014:24896178}" "" "" "" "" "" "0" "" "" "" "" "00050535" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050565" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050631" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00143200" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00144523" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00183048" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "F" "" "Netherlands" "" "0" "" "" "" "23033978-Trio15" "00207895" "" "" "" "1" "" "00006" "{PMID:Lionel 2018:28771251}" "" "F" "" "Canada" "" "0" "" "" "" "28771251-Pat111" "00229656" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00238999" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00276048" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00289303" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00289381" "" "" "" "1" "" "00006" "{PMID:Barbosa 2020:32109419}" "" "M" "" "" "" "0" "" "" "" "Pat1" "00289382" "" "" "" "1" "" "00006" "{PMID:Barbosa 2020:32109419}" "" "M" "" "" "" "0" "" "" "" "Pat2" "00289383" "" "" "" "1" "" "00006" "{PMID:Barbosa 2020:32109419}" "" "M" "" "" "" "0" "" "" "" "Pat3" "00289384" "" "" "" "1" "" "00006" "{PMID:Barbosa 2020:32109419}" "" "M" "" "" "" "0" "" "" "" "Pat4" "00289385" "" "" "" "1" "" "00006" "{PMID:Barbosa 2020:32109419}" "" "M" "" "" "" "0" "" "" "" "Pat5" "00289386" "" "" "" "1" "" "00006" "{PMID:Barbosa 2020:32109419}" "" "M" "" "" "" "0" "" "" "" "Pat6" "00289387" "" "" "" "1" "" "00006" "{PMID:Barbosa 2020:32109419}" "" "F" "" "" "" "0" "" "" "" "Pat7" "00289388" "" "" "" "1" "" "00006" "{PMID:Barbosa 2020:32109419}" "" "F" "" "" "" "0" "" "" "" "Pat8" "00289389" "" "" "" "1" "" "00006" "{PMID:Pengelly 2016:27418539}, {PMID:Barbosa 2020:32109419}" "" "F" "" "" "" "0" "" "" "" "Pat9" "00289390" "" "" "" "1" "" "00006" "{PMID:Barbosa 2020:32109419}" "" "M" "" "" "" "0" "" "" "" "Pat10" "00289391" "" "" "" "1" "" "00006" "{PMID:Pengelly 2016:27418539}, {PMID:Barbosa 2020:32109419}" "" "F" "" "" "" "0" "" "" "" "Pat11" "00289392" "" "" "" "1" "" "00006" "{PMID:Barbosa 2020:32109419}" "" "F" "" "" "" "0" "" "" "" "Pat12" "00289393" "" "" "" "1" "" "00006" "{PMID:Pengelly 2016:27418539}, {PMID:Barbosa 2020:32109419}" "" "F" "" "" "" "0" "" "" "" "Pat13" "00289394" "" "" "" "1" "" "00006" "{PMID:Barbosa 2020:32109419}" "" "M" "" "" "" "0" "" "" "" "Pat14" "00289395" "" "" "" "1" "" "00006" "{PMID:Barbosa 2020:32109419}" "" "F" "" "" "" "0" "" "" "" "Pat15" "00289396" "" "" "" "1" "" "00006" "{PMID:Barbosa 2020:32109419}" "" "F" "" "" "" "0" "" "" "" "Pat16" "00289397" "" "" "" "3" "" "00006" "{PMID:Pengelly 2016:27418539}, {PMID:Barbosa 2020:32109419}" "2-generation family, 3 affected (F, 2M), proband" "F" "" "" "" "0" "" "" "" "Pat17a" "00289398" "" "" "00289397" "1" "" "00006" "{PMID:Pengelly 2016:27418539}, {PMID:Barbosa 2020:32109419}" "father" "M" "" "" "" "0" "" "" "" "Pat17b" "00289399" "" "" "00289397" "1" "" "00006" "{PMID:Pengelly 2016:27418539}, {PMID:Barbosa 2020:32109419}" "uncle" "M" "" "" "" "0" "" "" "" "Pat17c" "00289400" "" "" "" "1" "" "00006" "{PMID:Barbosa 2020:32109419}" "" "F" "" "" "" "0" "" "" "" "Pat18" "00289401" "" "" "" "1" "" "00006" "{PMID:Barbosa 2020:32109419}" "" "F" "" "" "" "0" "" "" "" "Pat19" "00289402" "" "" "" "1" "" "00006" "{PMID:Barbosa 2020:32109419}" "" "M" "" "" "" "0" "" "" "" "Pat20" "00289403" "" "" "" "1" "" "00006" "{PMID:Barbosa 2020:32109419}" "" "M" "" "" "" "0" "" "" "" "Pat21" "00289404" "" "" "" "1" "" "00006" "{PMID:Barbosa 2020:32109419}" "" "M" "" "" "" "0" "" "" "" "Pat22" "00295762" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00301663" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00320138" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00398533" "" "" "" "1" "" "00006" "{PMID:Froyen 2012:22840365}, {PMID:Moey 2015:26059843}" "" "M" "" "" "" "0" "" "" "" "F538" "00401568" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "162P" "00408050" "" "" "" "1" "" "01164" "" "" "M" "?" "Turkey" "" "0" "" "" "" "194894" "00435328" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "262720" "00453088" "" "" "" "1" "" "00006" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "F" "" "" "" "0" "" "" "" "Pat44" "00453448" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00464408" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "321808" "00464627" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "324984" "00465246" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00466182" "" "" "" "1" "" "03820" "" "" "F" "" "Brazil" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 51 "{{individualid}}" "{{diseaseid}}" "00000024" "05378" "00000209" "01157" "00024238" "00139" "00050535" "00198" "00050565" "00198" "00050631" "00198" "00143200" "00198" "00144523" "00198" "00183048" "00139" "00207895" "00198" "00229656" "00198" "00238999" "00198" "00276048" "00198" "00289303" "00198" "00289381" "05611" "00289382" "05611" "00289383" "05611" "00289384" "05611" "00289385" "05611" "00289386" "05611" "00289387" "05611" "00289388" "05611" "00289389" "05611" "00289390" "05611" "00289391" "05611" "00289392" "05611" "00289393" "05611" "00289394" "05611" "00289395" "05611" "00289396" "05611" "00289397" "05611" "00289398" "05611" "00289399" "05611" "00289400" "05611" "00289401" "05611" "00289402" "05611" "00289403" "05611" "00289404" "05611" "00295762" "00198" "00301663" "00198" "00320138" "00198" "00398533" "00139" "00401568" "00139" "00408050" "05527" "00435328" "05527" "00453088" "05611" "00453448" "00198" "00464408" "05527" "00464627" "06687" "00465246" "05611" "00466182" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01157, 05378, 05527, 05611, 06687 ## Count = 49 "{{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}}" "0000020366" "00139" "00024238" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037147" "00198" "00050535" "00006" "Isolated (sporadic)" "" "progressive microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000037177" "00198" "00050565" "00006" "Isolated (sporadic)" "" "cognitive impairment, restlessness, inappropriate behavior" "" "" "" "" "" "" "" "" "" "" "" "0000037243" "00198" "00050631" "00006" "Isolated (sporadic)" "" "hypomimic face, upslanted palpebral fissure, short palm, small feet, third toe clinodactyly, fifth toe clinodactyly, joint hypermobility, iron deficiency anemia, intellectual disability, delayed speech and language development, global developmental delay, delayed speech and language development, delayed gross motor development, amblyopia, strabismus" "" "" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000115952" "00198" "00143200" "01807" "Unknown" "" "Expressive language delay (HP:0002474); Microcephaly (HP:0000252); Behavioral abnormality (HP:0000708)" "" "" "" "" "" "" "" "" "" "" "" "0000117263" "00198" "00144523" "01807" "Unknown" "" "HP:0002360 (Sleep disturbance)" "" "" "" "" "" "" "" "" "" "" "" "0000143801" "00139" "00183048" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000155679" "00198" "00207895" "00006" "Familial, autosomal dominant" "" "Microcephaly; global developmental delay" "" "" "" "" "" "" "" "" "MRD-44" "" "" "0000172881" "00198" "00229656" "01807" "Unknown" "" "Intellectual disability, mild (HP:0001256); Delayed speech and language development (HP:0000750); Poor fine motor coordination (HP:0007010); Poor gross motor coordination (HP:0007015)" "" "" "" "" "" "" "" "" "" "" "" "0000179284" "00198" "00238999" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Delayed speech and language development (HP:0000750); Behavioral abnormality (HP:0000708)" "" "" "" "" "" "" "" "" "" "" "" "0000210604" "00198" "00276048" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Short stature (HP:0004322); Behavioral abnormality (HP:0000708)" "" "" "" "" "" "" "" "" "" "" "" "0000222934" "00198" "00289303" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Tall stature (HP:0000098); Attention deficit hyperactivity disorder (HP:0007018); Muscular hypotonia (HP:0001252); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" "" "0000222993" "05611" "00289381" "00006" "Unknown" "15y" "sit-12m; walk-30m; speech first words-66m; moderate learning difficulties; language delay dysarthria, short sentences; language delay; OFC +0.7 SD" "" "" "" "" "" "" "" "" "" "" "" "0000222994" "05611" "00289382" "00006" "Isolated (sporadic)" "12y" "walk-84m; severe learning difficulties; language delay 7y-50 words; language delay; OFC +2.9 SD" "" "" "" "" "" "" "" "" "" "" "" "0000222995" "05611" "00289383" "00006" "Isolated (sporadic)" "3y" "first smile <36w; sit not achieved; crawling; no speech; severe learning difficulties; language delay babble only; language delay; OFC +2.2 SD" "" "" "" "" "" "" "" "" "" "" "" "0000222996" "05611" "00289384" "00006" "Isolated (sporadic)" "4y" "first smile 52w; sit-36m; walk not achieved; no speech; severe learning difficulties; language delay babble only; language delay; OFC +2.7 SD" "" "" "" "" "" "" "" "" "" "" "" "0000222997" "05611" "00289385" "00006" "Isolated (sporadic)" "7y" "; sit-36m; speech first words-36m; walk not achieved; severe learning difficulties; language delay <10 words; language delay; OFC +2.8 SD" "" "" "" "" "" "" "" "" "" "" "" "0000222998" "05611" "00289386" "00006" "Isolated (sporadic)" "6y" "first smile normal; sit-7m; walk-24m; no speech; severe learning difficulties; language delay severe, sounds only; language delay, comprehension better; OFC +3 SD" "" "" "" "" "" "" "" "" "" "" "" "0000222999" "05611" "00289387" "00006" "Isolated (sporadic)" "19y" "; sit-10.5m; walk-24m; speech first words-48–60m; moderate learning difficulties; language delay impaired articulation; language delay; OFC +2.4 SD" "" "" "" "" "" "" "" "" "" "" "" "0000223000" "05611" "00289388" "00006" "Isolated (sporadic)" "40y" "first smile 24w; sit-9m; walk-36m; speech first words-52m; severe learning difficulties; language delay short sentences only; language delay; OFC +4.7 SD" "" "" "" "" "" "" "" "" "" "" "" "0000223001" "05611" "00289389" "00006" "Isolated (sporadic)" "9y" "; sit-11m; walk-48–60m; severe learning difficulties; language delay non-verbal, uses Makaton; language delay; OFC +1.8 SD" "" "" "" "" "" "" "" "" "" "" "" "0000223002" "05611" "00289390" "00006" "Isolated (sporadic)" "20m" "first smile 12w; sit-9m; speech first words-24m; walk not achieved; moderate learning difficulties; language delay only a few two-syllable words; language delay; OFC -3.8 SD" "" "" "" "" "" "" "" "" "" "" "" "0000223003" "05611" "00289391" "00006" "Isolated (sporadic)" "16y" "first smile 8w; sit-10m; walk-22m; learning difficulties missing level in charts; language delay very talkative; language delay, unable to read or write; OFC -5.9 SD" "" "" "" "" "" "" "" "" "" "" "" "0000223004" "05611" "00289392" "00006" "Isolated (sporadic)" "8y" "first smile 6w; sit-8m; walk-12m; moderate learning difficulties; language delay talkative; language delay; microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000223005" "05611" "00289393" "00006" "Isolated (sporadic)" "8y" "first smile 36w; sit-11m; walk-30–36m; speech first words-48–60m; global learning difficulties; language delay; language delay; OFC -3.8 SD" "" "" "" "" "" "" "" "" "" "" "" "0000223006" "05611" "00289394" "00006" "Isolated (sporadic)" "14y" "; sit-9m; walk-17m; speech first words-60m; mild learning difficulties; language delay 9y-first sentences; no language delay; OFC -4 SD" "" "" "" "" "" "" "" "" "" "" "" "0000223007" "05611" "00289395" "00006" "Isolated (sporadic)" "19y" "first smile 8w; sit-11m; walk-21m; mild learning difficulties; language delay; language delay; OFC +1.5 SD" "" "" "" "" "" "" "" "" "" "" "" "0000223008" "05611" "00289396" "00006" "Isolated (sporadic)" "11y" "first smile 28w; sit-13m; walk-24m; speech first words-24–36m; moderate learning difficulties; language delay literal speech; language delay; OFC 0.3 SD" "" "" "" "" "" "" "" "" "" "" "" "0000223009" "05611" "00289397" "00006" "Familial, autosomal dominant" "17m" "first smile; sit-9m; walk-17m; speech first words-17m; mild learning difficulties; language delay; language delay; OFC -3.3 SD" "" "" "" "" "" "" "" "" "" "" "" "0000223010" "05611" "00289398" "00006" "Familial, autosomal dominant" "36y" "first smile; mild learning difficulties; OFC -2.1 SD" "" "" "" "" "" "" "" "" "" "" "" "0000223011" "05611" "00289399" "00006" "Familial, autosomal dominant" "10y" "first smile; mild learning difficulties; OFC -3.9 SD" "" "" "" "" "" "" "" "" "" "" "" "0000223012" "05611" "00289400" "00006" "Unknown" "14y" "first smile; walk-14m; speech first words-24m; yes learning difficulties; language delay; language delay; OFC -3.5 SD" "" "" "" "" "" "" "" "" "" "" "" "0000223013" "05611" "00289401" "00006" "Isolated (sporadic)" "8y" "first smile; sit-8m; walk-12m; speech first words-10m; mild learning difficulties; language delay; language delay; OFC -4.4 SD" "" "" "" "" "" "" "" "" "" "" "" "0000223014" "05611" "00289402" "00006" "Isolated (sporadic)" "16y" "first smile 6w; sit-6m; walk-12m; speech first words-Delayed; severe learning difficulties; language delay short sentences; nolanguage delay; OFC -1.4 SD" "" "" "" "" "" "" "" "" "" "" "" "0000223015" "05611" "00289403" "00006" "Isolated (sporadic)" "9y" "first smile >8w; walk->24m; speech first words->18m; moderate learning difficulties; language delay; language delay; OFC +1.4 SD" "" "" "" "" "" "" "" "" "" "" "" "0000223016" "05611" "00289404" "00006" "Unknown" "21m" "first smile 21m; sit not achieved, walk not achieved; no speech; severe learning difficulties; language delay no language development; language delay; OFC -4.6 SD" "" "" "" "" "" "" "" "" "" "" "" "0000223280" "00198" "00295762" "01807" "Unknown" "" "Microcephaly (HP:0000252); Intellectual disability (HP:0001249); EEG abnormality (HP:0002353)" "" "" "" "" "" "" "" "" "" "" "" "0000228764" "00198" "00301663" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750); Congenital microcephaly (HP:0011451); Muscular hypotonia (HP:0001252); Hypospadias (HP:0000047); Elevated serum creatine kinase (HP:0003236); Short attention span (HP:0000736); Impaired pain sensation (HP:0007328)" "" "" "" "" "" "" "" "" "" "" "" "0000242184" "00198" "00320138" "01807" "Unknown" "" "Microcephaly (HP:0000252); Strabismus (HP:0000486); Delayed speech and language development (HP:0000750); Global developmental delay (HP:0001263); Generalized hypotonia (HP:0001290)" "" "" "" "" "" "" "" "" "" "" "" "0000291661" "00139" "00398533" "00006" "Unknown" "" "see paper; ..., moderate intellectual disability; stutter, limited speech;" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000300180" "05527" "00408050" "01164" "Isolated (sporadic)" "04y" "Global developmental delay, Autistic behavior, Intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "0000325524" "05527" "00435328" "01164" "Isolated (sporadic)" "12y" "Tall stature, Microcephaly, Delayed speech and language development, Intellectual disability, Global developmental delay, Motor delay" "" "" "" "" "" "" "" "" "" "" "" "0000341733" "05611" "00453088" "00006" "Isolated (sporadic)" "6y11m" "see paper; ... (very detailed phenotype descriptions)" "" "" "" "" "" "" "" "" "KLEFS2" "neurodevelopmental disorder" "" "0000342113" "00198" "00453448" "03544" "Isolated (sporadic)" "" "HP:0010864, HP:0001250" "" "" "" "" "" "" "" "" "" "intellectual disability, epilepsy" "" "0000350431" "05527" "00464408" "01164" "Unknown" "04y" "Neurodevelopmental delay, Strabismus, Hypotonia, Intellectual disability, Motor delay, Delayed speech and language development, Microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000350618" "06687" "00464627" "01164" "Unknown" "06y" "Neurodevelopmental delay, Motor delay, Delayed speech and language development, Short stature, Decreased body weight, Hypotonia, Lower limb muscle weakness, Abnormality of mitochondrial metabolism, Supernumerary tooth, Abnormality of the digestive system" "" "" "" "" "" "" "" "" "" "" "" "0000350781" "05611" "00465246" "03544" "Isolated (sporadic)" "" "HP:0001256, HP:0000717" "" "" "" "" "" "" "" "" "TRIO-related disorder" "neurodevelopmental disorder" "" "0000351569" "00198" "00466182" "03820" "Unknown" "" "Hypertelorism, Behavioral disorders, Intellectual disability" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 51 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000024" "00000024" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000024232" "00024238" "1" "00006" "00006" "2014-11-08 16:39:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000050480" "00050535" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050510" "00050565" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050576" "00050631" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000144057" "00143200" "0" "01807" "01807" "2017-11-30 19:09:11" "" "" "SEQ" "DNA" "" "" "0000145380" "00144523" "0" "01807" "01807" "2017-12-16 16:30:51" "" "" "SEQ" "DNA" "" "" "0000184008" "00183048" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000208937" "00207895" "1" "00006" "00006" "2018-12-02 17:52:50" "" "" "SEQ" "DNA" "" "WGS" "0000230749" "00229656" "1" "01807" "01807" "2019-04-08 10:01:40" "" "" "SEQ" "DNA" "" "" "0000240104" "00238999" "1" "01807" "01807" "2019-05-30 15:47:02" "" "" "SEQ" "DNA" "" "" "0000277195" "00276048" "1" "01807" "01807" "2020-01-24 11:02:56" "" "" "SEQ" "DNA" "" "" "0000290473" "00289303" "1" "01807" "01807" "2020-03-02 12:27:18" "" "" "SEQ" "DNA" "" "" "0000290551" "00289381" "1" "00006" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290552" "00289382" "1" "00006" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290553" "00289383" "1" "00006" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290554" "00289384" "1" "00006" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290555" "00289385" "1" "00006" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290556" "00289386" "1" "00006" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290557" "00289387" "1" "00006" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290558" "00289388" "1" "00006" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290559" "00289389" "1" "00006" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290560" "00289390" "1" "00006" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290561" "00289391" "1" "00006" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290562" "00289392" "1" "00006" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290563" "00289393" "1" "00006" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290564" "00289394" "1" "00006" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290565" "00289395" "1" "00006" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290566" "00289396" "1" "00006" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290567" "00289397" "1" "00006" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290568" "00289398" "1" "00006" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290569" "00289399" "1" "00006" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290570" "00289400" "1" "00006" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290571" "00289401" "1" "00006" "00006" "2020-03-08 09:42:30" "00006" "2020-03-08 09:51:53" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000290572" "00289402" "1" "00006" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290573" "00289403" "1" "00006" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290574" "00289404" "1" "03384" "00006" "2020-03-08 09:42:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000296935" "00295762" "1" "01807" "01807" "2020-03-26 12:30:34" "" "" "SEQ" "DNA" "" "" "0000302788" "00301663" "1" "01807" "01807" "2020-05-20 08:46:01" "" "" "SEQ" "DNA" "" "" "0000321323" "00320138" "1" "01807" "01807" "2020-11-23 17:34:14" "" "" "SEQ" "DNA" "" "" "0000399779" "00398533" "1" "00006" "00006" "2022-01-06 09:27:03" "" "" "arrayCGH" "DNA" "" "" "0000402811" "00401568" "1" "02494" "02494" "2022-02-01 09:54:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000409305" "00408050" "1" "01164" "01164" "2022-04-12 15:17:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000436808" "00435328" "1" "01164" "01164" "2023-07-06 12:35:23" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000454699" "00453088" "1" "00006" "00006" "2024-08-15 19:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000455062" "00453448" "1" "03544" "03544" "2024-08-29 13:19:52" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000466043" "00464408" "1" "01164" "01164" "2025-03-10 12:45:16" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000466273" "00464627" "1" "01164" "01164" "2025-04-04 10:55:57" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000466896" "00465246" "1" "03544" "03544" "2025-04-27 15:42:45" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000467840" "00466182" "1" "03820" "03820" "2025-08-06 15:37:02" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 46 "{{screeningid}}" "{{geneid}}" "0000000024" "AGA" "0000000024" "AMPD1" "0000000024" "ATP7B" "0000000024" "CBS" "0000000024" "CPT1A" "0000000024" "CYP21A2" "0000000024" "DPYD" "0000000024" "ETFB" "0000000024" "MEFV" "0000000024" "NPHP4" "0000000024" "NPHS1" "0000000024" "SERPINA1" "0000024232" "TRIO" "0000050480" "TRIO" "0000050510" "GSPT2" "0000050576" "FAT4" "0000050576" "TRIO" "0000208937" "TRIO" "0000290551" "TRIO" "0000290552" "TRIO" "0000290553" "TRIO" "0000290554" "TRIO" "0000290555" "TRIO" "0000290556" "TRIO" "0000290557" "TRIO" "0000290558" "TRIO" "0000290559" "TRIO" "0000290560" "TRIO" "0000290561" "TRIO" "0000290562" "TRIO" "0000290563" "TRIO" "0000290564" "TRIO" "0000290565" "TRIO" "0000290566" "TRIO" "0000290567" "TRIO" "0000290568" "TRIO" "0000290569" "TRIO" "0000290570" "TRIO" "0000290571" "TRIO" "0000290572" "TRIO" "0000290573" "TRIO" "0000290574" "TRIO" "0000409305" "TRIO" "0000436808" "TRIO" "0000466043" "TRIO" "0000466273" "TRIO" ## 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 = 269 "{{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}}" "0000000124" "0" "50" "1" "5935064" "5935064" "subst" "0.00279209" "00002" "NPHP4_000003" "g.5935064T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.5875004T>C" "" "likely pathogenic (recessive)" "" "0000012100" "3" "50" "5" "14200168" "14200168" "subst" "0" "00037" "TRIO_000001" "g.14200168C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.14200059C>G" "" "VUS" "" "0000046790" "0" "30" "5" "14390384" "14390384" "subst" "0" "00006" "TRIO_000002" "g.14390384A>T" "" "{PMID:Gilissen 2014:24896178}" "" "" "" "De novo" "" "" "0" "" "" "g.14390275A>T" "" "likely benign" "" "0000079460" "0" "90" "5" "14397221" "14397221" "subst" "0" "00006" "TRIO_000004" "g.14397221C>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.14397112C>A" "" "pathogenic" "" "0000079490" "0" "90" "5" "10973413" "15937446" "del" "0" "00006" "CTNND2_000002" "g.10973413_15937446del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000079690" "0" "90" "5" "14397222" "14397222" "subst" "0" "00006" "TRIO_000003" "g.14397222C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.14397113C>T" "" "pathogenic" "" "0000234496" "0" "90" "5" "14387881" "14387881" "del" "0" "01807" "TRIO_000005" "g.14387881del" "" "" "" "g.14387879del" "" "Unknown" "" "" "0" "" "" "g.14387772del" "" "pathogenic" "" "0000236493" "0" "50" "5" "14441339" "14463054" "del" "0" "01807" "TRIO_000006" "g.14441339_14463054del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.14441230_14462945del" "" "VUS" "" "0000248548" "0" "10" "5" "14420027" "14420027" "subst" "0.827184" "02325" "TRIO_000026" "g.14420027A>C" "" "" "" "TRIO(NM_007118.4):c.5100A>C (p.T1700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14419918A>C" "" "benign" "" "0000249744" "0" "50" "5" "14389467" "14389467" "subst" "0" "02325" "TRIO_000020" "g.14389467A>G" "" "" "" "TRIO(NM_007118.2):c.4018A>G (p.(Ile1340Val)), TRIO(NM_007118.4):c.4018A>G (p.I1340V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14389358A>G" "" "VUS" "" "0000253787" "0" "10" "5" "14369479" "14369479" "subst" "0.00466909" "01943" "TRIO_000012" "g.14369479A>T" "" "" "" "TRIO(NM_007118.3):c.3067-4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14369370A>T" "" "benign" "" "0000255874" "0" "50" "5" "14471470" "14471470" "subst" "0" "01943" "TRIO_000028" "g.14471470A>T" "" "" "" "TRIO(NM_007118.3):c.5807A>T (p.D1936V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14471361A>T" "" "VUS" "" "0000255904" "0" "50" "5" "14388736" "14388736" "subst" "0" "01943" "TRIO_000016" "g.14388736A>G" "" "" "" "TRIO(NM_007118.3):c.3896A>G (p.E1299G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14388627A>G" "" "VUS" "" "0000256363" "0" "50" "5" "14397234" "14397234" "subst" "0" "01943" "TRIO_000023" "g.14397234A>G" "" "" "" "TRIO(NM_007118.3):c.4394A>G (p.N1465S), TRIO(NM_007118.4):c.4394A>G (p.N1465S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14397125A>G" "" "VUS" "" "0000312045" "0" "10" "5" "14184079" "14184079" "subst" "0" "02325" "TRIO_000007" "g.14184079G>A" "" "" "" "TRIO(NM_007118.4):c.157+40088G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14183970G>A" "" "benign" "" "0000312046" "0" "10" "5" "14368975" "14368975" "subst" "0.254737" "02325" "TRIO_000011" "g.14368975C>T" "" "" "" "TRIO(NM_007118.4):c.3033C>T (p.N1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14368866C>T" "" "benign" "" "0000312047" "0" "10" "5" "14397238" "14397238" "subst" "0.342729" "02325" "TRIO_000024" "g.14397238T>C" "" "" "" "TRIO(NM_007118.4):c.4398T>C (p.D1466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14397129T>C" "" "benign" "" "0000312048" "0" "10" "5" "14290805" "14290805" "subst" "0.503536" "02325" "TRIO_000008" "g.14290805G>A" "" "" "" "TRIO(NM_007118.4):c.541-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14290696G>A" "" "benign" "" "0000312049" "0" "50" "5" "14488173" "14488173" "subst" "0" "02325" "TRIO_000037" "g.14488173T>G" "" "" "" "TRIO(NM_007118.4):c.7436T>G (p.L2479R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14488064T>G" "" "VUS" "" "0000313509" "0" "50" "5" "14471530" "14471530" "subst" "0" "02329" "TRIO_000029" "g.14471530T>C" "" "" "" "TRIO(NM_007118.4):c.5867T>C (p.I1956T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14471421T>C" "" "VUS" "" "0000314834" "0" "30" "5" "14394252" "14394252" "subst" "2.59166E-5" "02326" "TRIO_000022" "g.14394252C>T" "" "" "" "TRIO(NM_007118.4):c.4311+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14394143C>T" "" "likely benign" "" "0000314835" "0" "30" "5" "14482786" "14482786" "subst" "2.0412E-5" "02326" "TRIO_000031" "g.14482786C>T" "" "" "" "TRIO(NM_007118.4):c.6561C>T (p.R2187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14482677C>T" "" "likely benign" "" "0000314836" "0" "10" "5" "14488104" "14488104" "subst" "0.000647389" "02326" "TRIO_000035" "g.14488104C>T" "" "" "" "TRIO(NM_007118.4):c.7367C>T (p.P2456L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14487995C>T" "" "benign" "" "0000317055" "0" "10" "5" "14367025" "14367025" "subst" "0.00122639" "01943" "TRIO_000009" "g.14367025C>G" "" "" "" "TRIO(NM_007118.3):c.2811C>G (p.A937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14366916C>G" "" "benign" "" "0000317056" "0" "30" "5" "14368831" "14368831" "subst" "0.000554382" "01943" "TRIO_000010" "g.14368831C>T" "" "" "" "TRIO(NM_007118.3):c.2889C>T (p.S963=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14368722C>T" "" "likely benign" "" "0000317057" "0" "30" "5" "14378137" "14378137" "subst" "3.2788E-5" "01943" "TRIO_000015" "g.14378137C>T" "" "" "" "TRIO(NM_007118.3):c.3348C>T (p.L1116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14378028C>T" "" "likely benign" "" "0000317058" "0" "10" "5" "14388814" "14388815" "del" "0" "01943" "TRIO_000019" "g.14388814_14388815del" "" "" "" "TRIO(NM_007118.3):c.3948+26_3948+27delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14388705_14388706del" "" "benign" "" "0000317060" "0" "10" "5" "14388815" "14388815" "del" "0" "01943" "TRIO_000018" "g.14388815del" "" "" "" "TRIO(NM_007118.3):c.3948+27delT, TRIO(NM_007118.4):c.3948+27delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14388706del" "" "benign" "" "0000317061" "0" "30" "5" "14391001" "14391001" "subst" "0" "01943" "TRIO_000021" "g.14391001G>T" "" "" "" "TRIO(NM_007118.3):c.4129-9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14390892G>T" "" "likely benign" "" "0000317062" "0" "50" "5" "14406743" "14406743" "subst" "9.35522E-5" "01943" "TRIO_000025" "g.14406743G>A" "" "" "" "TRIO(NM_007118.3):c.4921G>A (p.A1641T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14406634G>A" "" "VUS" "" "0000317063" "0" "30" "5" "14462959" "14462959" "subst" "4.91244E-5" "01943" "TRIO_000027" "g.14462959C>T" "" "" "" "TRIO(NM_007118.3):c.5592C>T (p.A1864=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14462850C>T" "" "likely benign" "" "0000317064" "0" "10" "5" "14482765" "14482765" "subst" "0.0013296" "01943" "TRIO_000030" "g.14482765G>C" "" "" "" "TRIO(NM_007118.3):c.6540G>C (p.L2180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14482656G>C" "" "benign" "" "0000317065" "0" "30" "5" "14487651" "14487651" "subst" "0" "01943" "TRIO_000032" "g.14487651G>A" "" "" "" "TRIO(NM_007118.2):c.6914G>A (p.(Gly2305Asp)), TRIO(NM_007118.3):c.6914G>A (p.G2305D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14487542G>A" "" "likely benign" "" "0000317066" "0" "10" "5" "14487852" "14487852" "subst" "0.00128224" "01943" "TRIO_000033" "g.14487852C>T" "" "" "" "TRIO(NM_007118.3):c.7115C>T (p.P2372L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14487743C>T" "" "benign" "" "0000317067" "0" "30" "5" "14487954" "14487954" "subst" "0" "01943" "TRIO_000034" "g.14487954C>T" "" "" "" "TRIO(NM_007118.3):c.7217C>T (p.A2406V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14487845C>T" "" "likely benign" "" "0000317068" "0" "30" "5" "14488142" "14488142" "subst" "0.000322641" "01943" "TRIO_000036" "g.14488142G>A" "" "" "" "TRIO(NM_007118.3):c.7405G>A (p.G2469S), TRIO(NM_007118.4):c.7405G>A (p.(Gly2469Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14488033G>A" "" "likely benign" "" "0000330290" "0" "30" "5" "14488194" "14488205" "del" "0.00213092" "01804" "TRIO_000038" "g.14488194_14488205del" "" "" "" "TRIO(NM_007118.2):c.7457_7468del (p.(Trp2486_Pro2490delinsSer))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14488085_14488096del" "" "likely benign" "" "0000339175" "0" "50" "5" "14502712" "14502712" "subst" "0" "02327" "TRIO_000046" "g.14502712T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14502603T>A" "" "VUS" "" "0000341286" "0" "50" "5" "14487806" "14487806" "subst" "0" "02327" "TRIO_000045" "g.14487806G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14487697G>C" "" "VUS" "" "0000341700" "0" "50" "5" "14374354" "14374354" "subst" "0" "02327" "TRIO_000013" "g.14374354G>A" "" "" "" "TRIO(NM_007118.4):c.3233G>A (p.R1078Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14374245G>A" "" "VUS" "" "0000341915" "0" "70" "5" "14394211" "14394211" "subst" "0" "02327" "TRIO_000043" "g.14394211G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14394102G>A" "" "likely pathogenic" "" "0000342903" "0" "50" "5" "14297323" "14297323" "subst" "1.21906E-5" "02327" "TRIO_000039" "g.14297323G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14297214G>A" "" "VUS" "" "0000344251" "0" "30" "5" "14387635" "14387635" "subst" "0" "02327" "TRIO_000042" "g.14387635G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14387526G>A" "" "likely benign" "" "0000346852" "0" "50" "5" "14378160" "14378160" "subst" "0" "02327" "TRIO_000041" "g.14378160T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14378051T>C" "" "VUS" "" "0000348221" "0" "30" "5" "14406075" "14406075" "subst" "0" "02327" "TRIO_000044" "g.14406075C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14405966C>A" "" "likely benign" "" "0000407979" "0" "70" "5" "14492731" "14492731" "subst" "1.62455E-5" "00006" "TRIO_000047" "g.14492731C>T" "" "{PMID:de Ligt 2012:23033978}" "" "NM_007118.2:c.7688C>T (Thr2563Met)" "candidate variant" "De novo" "" "" "0" "" "" "g.14492622C>T" "" "likely pathogenic" "" "0000438973" "0" "90" "5" "14394240" "14394240" "subst" "0" "00006" "TRIO_000048" "g.14394240G>A" "" "{PMID:Lionel 2018:28771251}" "" "" "" "De novo" "" "" "0" "" "" "g.14394131G>A" "" "pathogenic" "" "0000472369" "0" "90" "5" "14487777" "14487777" "del" "0" "01807" "TRIO_000049" "g.14487777del" "" "" "" "7040delA" "" "Unknown" "" "" "0" "" "" "g.14487668del" "" "pathogenic" "" "0000484102" "0" "70" "5" "14487764" "14487764" "del" "0" "01807" "TRIO_000050" "g.14487764del" "" "" "" "7027delC" "" "Unknown" "" "" "0" "" "" "g.14487655del" "" "likely pathogenic" "" "0000524609" "0" "30" "5" "14143868" "14143868" "subst" "0" "01804" "TRIO_000051" "g.14143868G>A" "" "" "" "TRIO(NM_007118.2):c.34G>A (p.(Ala12Thr)), TRIO(NM_007118.4):c.34G>A (p.A12T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14143759G>A" "" "likely benign" "" "0000524610" "0" "30" "5" "14143868" "14143868" "subst" "0" "02326" "TRIO_000051" "g.14143868G>A" "" "" "" "TRIO(NM_007118.2):c.34G>A (p.(Ala12Thr)), TRIO(NM_007118.4):c.34G>A (p.A12T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14143759G>A" "" "likely benign" "" "0000524616" "0" "90" "5" "14287071" "14287071" "subst" "0" "01943" "TRIO_000052" "g.14287071G>T" "" "" "" "TRIO(NM_007118.3):c.439G>T (p.E147*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14286962G>T" "" "pathogenic" "" "0000524617" "0" "50" "5" "14287137" "14287138" "del" "0" "01943" "TRIO_000053" "g.14287137_14287138del" "" "" "" "TRIO(NM_007118.3):c.505_506delAG (p.R169Dfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14287028_14287029del" "" "VUS" "" "0000524618" "0" "30" "5" "14291299" "14291299" "subst" "0" "02327" "TRIO_000054" "g.14291299T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14291190T>G" "" "likely benign" "" "0000524620" "0" "30" "5" "14358293" "14358293" "subst" "8.17494E-6" "01804" "TRIO_000055" "g.14358293A>T" "" "" "" "TRIO(NM_007118.2):c.2053A>T (p.(Thr685Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14358184A>T" "" "likely benign" "" "0000524621" "0" "30" "5" "14358422" "14358422" "subst" "0" "02327" "TRIO_000056" "g.14358422A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14358313A>G" "" "likely benign" "" "0000524622" "0" "30" "5" "14364857" "14364857" "subst" "2.43841E-5" "01804" "TRIO_000057" "g.14364857G>A" "" "" "" "TRIO(NM_007118.2):c.2686G>A (p.(Ala896Thr)), TRIO(NM_007118.3):c.2686G>A (p.A896T), TRIO(NM_007118.4):c.2686G>A (p.A896T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14364748G>A" "" "likely benign" "" "0000524623" "0" "30" "5" "14364919" "14364919" "subst" "6.60382E-5" "02326" "TRIO_000058" "g.14364919G>T" "" "" "" "TRIO(NM_007118.4):c.2748G>T (p.V916=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14364810G>T" "" "likely benign" "" "0000524624" "0" "30" "5" "14368906" "14368906" "subst" "5.2794E-5" "02326" "TRIO_000059" "g.14368906C>T" "" "" "" "TRIO(NM_007118.3):c.2964C>T (p.C988=), TRIO(NM_007118.4):c.2964C>T (p.C988=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14368797C>T" "" "likely benign" "" "0000524625" "0" "30" "5" "14369565" "14369565" "subst" "0.000235619" "02326" "TRIO_000060" "g.14369565A>T" "" "" "" "TRIO(NM_007118.3):c.3149A>T (p.N1050I), TRIO(NM_007118.4):c.3149A>T (p.N1050I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14369456A>T" "" "likely benign" "" "0000524626" "0" "30" "5" "14378113" "14378113" "subst" "0.000231368" "01943" "TRIO_000061" "g.14378113T>C" "" "" "" "TRIO(NM_007118.3):c.3332-8T>C, TRIO(NM_007118.4):c.3332-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14378004T>C" "" "likely benign" "" "0000524627" "0" "50" "5" "14381265" "14381265" "subst" "7.72364E-5" "01943" "TRIO_000062" "g.14381265C>T" "" "" "" "TRIO(NM_007118.3):c.3474C>T (p.G1158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14381156C>T" "" "VUS" "" "0000524628" "0" "70" "5" "14387951" "14387951" "subst" "0" "02329" "TRIO_000063" "g.14387951G>C" "" "" "" "TRIO(NM_007118.4):c.3876G>C (p.R1292S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14387842G>C" "" "likely pathogenic" "" "0000524629" "0" "10" "5" "14388814" "14388815" "dup" "0" "01943" "TRIO_000064" "g.14388814_14388815dup" "" "" "" "TRIO(NM_007118.3):c.3948+27_3948+28dupTT, TRIO(NM_007118.4):c.3948+25_3948+26dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14388705_14388706dup" "" "benign" "" "0000524630" "0" "30" "5" "14388814" "14388815" "dup" "0" "02326" "TRIO_000064" "g.14388814_14388815dup" "" "" "" "TRIO(NM_007118.3):c.3948+27_3948+28dupTT, TRIO(NM_007118.4):c.3948+25_3948+26dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14388705_14388706dup" "" "likely benign" "" "0000524631" "0" "30" "5" "14391002" "14391002" "subst" "0" "01804" "TRIO_000065" "g.14391002G>T" "" "" "" "TRIO(NM_007118.2):c.4129-8G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14390893G>T" "" "likely benign" "" "0000524632" "0" "30" "5" "14391003" "14391003" "subst" "0" "01804" "TRIO_000066" "g.14391003C>T" "" "" "" "TRIO(NM_007118.2):c.4129-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14390894C>T" "" "likely benign" "" "0000524633" "0" "30" "5" "14391006" "14391006" "subst" "0" "01804" "TRIO_000067" "g.14391006A>T" "" "" "" "TRIO(NM_007118.2):c.4129-4A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14390897A>T" "" "likely benign" "" "0000524634" "0" "50" "5" "14394208" "14394208" "subst" "0" "01943" "TRIO_000068" "g.14394208A>T" "" "" "" "TRIO(NM_007118.3):c.4280A>T (p.Q1427L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14394099A>T" "" "VUS" "" "0000524635" "0" "30" "5" "14406795" "14406795" "subst" "0.000146927" "02326" "TRIO_000069" "g.14406795G>A" "" "" "" "TRIO(NM_007118.4):c.4959+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14406686G>A" "" "likely benign" "" "0000524640" "0" "50" "5" "14461301" "14461301" "subst" "0" "01943" "TRIO_000070" "g.14461301G>A" "" "" "" "TRIO(NM_007118.3):c.5377G>A (p.V1793M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14461192G>A" "" "VUS" "" "0000524641" "0" "50" "5" "14474111" "14474111" "subst" "0" "02327" "TRIO_000071" "g.14474111G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14474002G>A" "" "VUS" "" "0000524642" "0" "30" "5" "14474112" "14474112" "subst" "0.000410219" "01804" "TRIO_000072" "g.14474112G>A" "" "" "" "TRIO(NM_007118.2):c.5989G>A (p.(Ala1997Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14474003G>A" "" "likely benign" "" "0000524643" "0" "30" "5" "14482688" "14482688" "subst" "2.90823E-5" "01804" "TRIO_000073" "g.14482688T>C" "" "" "" "TRIO(NM_007118.2):c.6466-3T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14482579T>C" "" "likely benign" "" "0000524644" "0" "30" "5" "14487651" "14487651" "subst" "0" "01804" "TRIO_000032" "g.14487651G>A" "" "" "" "TRIO(NM_007118.2):c.6914G>A (p.(Gly2305Asp)), TRIO(NM_007118.3):c.6914G>A (p.G2305D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14487542G>A" "" "likely benign" "" "0000524645" "0" "30" "5" "14488071" "14488071" "subst" "2.14832E-5" "02326" "TRIO_000074" "g.14488071C>T" "" "" "" "TRIO(NM_007118.2):c.7334C>T (p.(Pro2445Leu)), TRIO(NM_007118.4):c.7334C>T (p.P2445L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14487962C>T" "" "likely benign" "" "0000524646" "0" "30" "5" "14498623" "14498623" "subst" "0.00013431" "02326" "TRIO_000075" "g.14498623C>T" "" "" "" "TRIO(NM_007118.4):c.8211-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14498514C>T" "" "likely benign" "" "0000524648" "0" "50" "5" "14498750" "14498756" "dup" "0" "02325" "TRIO_000077" "g.14498750_14498756dup" "" "" "" "TRIO(NM_007118.4):c.8332_8332+1insGTAAGCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14498641_14498647dup" "" "VUS" "" "0000524649" "0" "30" "5" "14508112" "14508112" "subst" "2.43641E-5" "01804" "TRIO_000078" "g.14508112G>A" "" "" "" "TRIO(NM_007118.4):c.8875G>A (p.(Ala2959Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14508003G>A" "" "likely benign" "" "0000524651" "0" "30" "5" "14508401" "14508401" "subst" "0" "01804" "TRIO_000080" "g.14508401G>T" "" "" "" "TRIO(NM_007118.2):c.9164G>T (p.(Gly3055Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14508292G>T" "" "likely benign" "" "0000609545" "0" "30" "5" "14291055" "14291055" "subst" "4.06534E-5" "02326" "TRIO_000081" "g.14291055C>G" "" "" "" "TRIO(NM_007118.4):c.771C>G (p.I257M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14290946C>G" "" "likely benign" "" "0000609547" "0" "30" "5" "14397277" "14397277" "subst" "0.000354084" "02326" "TRIO_000083" "g.14397277C>T" "" "" "" "TRIO(NM_007118.4):c.4423+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14397168C>T" "" "likely benign" "" "0000609548" "0" "50" "5" "14488086" "14488086" "subst" "0" "01943" "TRIO_000085" "g.14488086G>A" "" "" "" "TRIO(NM_007118.3):c.7349G>A (p.R2450Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14487977G>A" "" "VUS" "" "0000609549" "0" "30" "5" "14488089" "14488089" "subst" "0.000104194" "02326" "TRIO_000086" "g.14488089C>A" "" "" "" "TRIO(NM_007118.4):c.7352C>A (p.A2451D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14487980C>A" "" "likely benign" "" "0000609551" "0" "30" "5" "14502714" "14502714" "subst" "0.000276135" "01943" "TRIO_000088" "g.14502714A>T" "" "" "" "TRIO(NM_007118.2):c.8359A>T (p.(Thr2787Ser)), TRIO(NM_007118.3):c.8359A>T (p.T2787S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14502605A>T" "" "likely benign" "" "0000621498" "0" "50" "5" "14488028" "14488028" "subst" "0" "01943" "TRIO_000084" "g.14488028G>C" "" "" "" "TRIO(NM_007118.3):c.7291G>C (p.D2431H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14487919G>C" "" "VUS" "" "0000631939" "0" "90" "5" "14290935" "14290936" "del" "0" "01807" "TRIO_000089" "g.14290935_14290936del" "" "" "" "651_652delAG" "" "Unknown" "" "" "0" "" "" "g.14290826_14290827del" "" "pathogenic" "" "0000647142" "0" "70" "5" "14336786" "14336786" "subst" "0" "01807" "TRIO_000090" "g.14336786C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.14336677C>T" "" "likely pathogenic" "" "0000647236" "0" "90" "5" "14374345" "14374345" "subst" "0" "00006" "TRIO_000093" "g.14374345C>T" "" "{PMID:Barbosa 2020:32109419}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.14374236C>T" "" "pathogenic (dominant)" "" "0000647237" "0" "90" "5" "14374353" "14374353" "subst" "0" "00006" "TRIO_000094" "g.14374353C>T" "" "{PMID:Barbosa 2020:32109419}" "" "" "14q21.1 microdeletion" "De novo" "" "" "0" "" "" "g.14374244C>T" "" "pathogenic (dominant)" "" "0000647238" "0" "90" "5" "14374353" "14374353" "subst" "0" "00006" "TRIO_000094" "g.14374353C>T" "" "{PMID:Barbosa 2020:32109419}" "" "" "" "De novo" "" "" "0" "" "" "g.14374244C>T" "" "pathogenic (dominant)" "" "0000647239" "0" "90" "5" "14374353" "14374353" "subst" "0" "00006" "TRIO_000094" "g.14374353C>T" "" "{PMID:Barbosa 2020:32109419}" "" "" "" "De novo" "" "" "0" "" "" "g.14374244C>T" "" "pathogenic (dominant)" "" "0000647240" "0" "90" "5" "14374353" "14374353" "subst" "0" "00006" "TRIO_000094" "g.14374353C>T" "" "{PMID:Barbosa 2020:32109419}" "" "" "" "De novo" "" "" "0" "" "" "g.14374244C>T" "" "pathogenic (dominant)" "" "0000647241" "0" "90" "5" "14374353" "14374353" "subst" "0" "00006" "TRIO_000095" "g.14374353C>G" "" "{PMID:Barbosa 2020:32109419}" "" "" "" "De novo" "" "" "0" "" "" "g.14374244C>G" "" "pathogenic (dominant)" "" "0000647242" "0" "90" "5" "14374354" "14374354" "subst" "0" "00006" "TRIO_000013" "g.14374354G>A" "" "{PMID:Barbosa 2020:32109419}" "" "" "" "De novo" "" "" "0" "" "" "g.14374245G>A" "" "pathogenic (dominant)" "" "0000647243" "0" "90" "5" "14374354" "14374354" "subst" "0" "00006" "TRIO_000013" "g.14374354G>A" "" "{PMID:Barbosa 2020:32109419}" "" "" "" "De novo" "" "" "0" "" "" "g.14374245G>A" "" "pathogenic (dominant)" "" "0000647244" "0" "90" "5" "14374360" "14374360" "subst" "0" "00006" "TRIO_000096" "g.14374360A>T" "" "{PMID:Pengelly 2016:27418539}, {PMID:Barbosa 2020:32109419}" "" "" "" "De novo" "" "" "0" "" "" "g.14374251A>T" "" "pathogenic (dominant)" "" "0000647245" "0" "90" "5" "14388735" "14388735" "subst" "0" "00006" "TRIO_000097" "g.14388735G>A" "" "{PMID:Barbosa 2020:32109419}" "" "" "" "De novo" "" "" "0" "" "" "g.14388626G>A" "" "pathogenic (dominant)" "" "0000647246" "0" "90" "5" "14394211" "14394211" "subst" "0" "00006" "TRIO_000043" "g.14394211G>A" "" "{PMID:Pengelly 2016:27418539}, {PMID:Sadybekov 2017:28928363}, {PMID:Barbosa 2020:32109419}" "" "" "" "De novo" "" "" "0" "" "" "g.14394102G>A" "" "pathogenic (dominant)" "" "0000647247" "0" "90" "5" "14394211" "14394211" "subst" "0" "00006" "TRIO_000043" "g.14394211G>A" "" "{PMID:Pengelly 2016:27418539}, {PMID:Sadybekov 2017:28928363}, {PMID:Barbosa 2020:32109419}" "" "" "maternally inherited 4p microdeletion" "De novo" "" "" "0" "" "" "g.14394102G>A" "" "pathogenic (dominant)" "" "0000647248" "0" "90" "5" "14397221" "14397221" "subst" "0" "00006" "TRIO_000004" "g.14397221C>A" "" "{PMID:Pengelly 2016:27418539}, {PMID:Sadybekov 2017:28928363}, {PMID:Barbosa 2020:32109419}" "" "" "-" "De novo" "" "" "0" "" "" "g.14397112C>A" "" "pathogenic (dominant)" "" "0000647249" "0" "90" "5" "14397246" "14397246" "subst" "0" "00006" "TRIO_000098" "g.14397246A>G" "" "{PMID:Barbosa 2020:32109419}" "" "" "-" "De novo" "" "" "0" "" "" "g.14397137A>G" "" "pathogenic (dominant)" "" "0000647250" "0" "90" "5" "14397222" "14397222" "subst" "0" "00006" "TRIO_000003" "g.14397222C>T" "" "{PMID:Sadybekov 2017:28928363}, {PMID:Barbosa 2020:32109419}" "" "" "" "De novo" "" "" "0" "" "" "g.14397113C>T" "" "pathogenic (dominant)" "" "0000647251" "0" "90" "5" "14397222" "14397222" "subst" "0" "00006" "TRIO_000003" "g.14397222C>T" "" "{PMID:Sadybekov 2017:28928363}, {PMID:Barbosa 2020:32109419}" "" "" "bi-allelic FAT4 variants regarded as VUS" "De novo" "" "" "0" "" "" "g.14397113C>T" "" "pathogenic (dominant)" "" "0000647252" "11" "90" "5" "14399031" "14399031" "del" "0" "00006" "TRIO_000099" "g.14399031del" "" "{PMID:Pengelly 2016:27418539}, {PMID:Barbosa 2020:32109419}" "" "4466delA" "" "Germline" "yes" "" "0" "" "" "g.14398922del" "" "pathogenic (dominant)" "" "0000647253" "0" "90" "5" "14399031" "14399031" "del" "0" "00006" "TRIO_000099" "g.14399031del" "" "{PMID:Pengelly 2016:27418539}, {PMID:Barbosa 2020:32109419}" "" "4467delA" "15q11.2 microdeletion and maternal DM" "Germline" "yes" "" "0" "" "" "g.14398922del" "" "pathogenic (dominant)" "" "0000647254" "0" "90" "5" "14399031" "14399031" "del" "0" "00006" "TRIO_000099" "g.14399031del" "" "{PMID:Pengelly 2016:27418539}, {PMID:Barbosa 2020:32109419}" "" "4468delA" "15q11.2 microdeletion" "Germline" "yes" "" "0" "" "" "g.14398922del" "" "pathogenic (dominant)" "" "0000647255" "0" "90" "5" "14359551" "14359551" "subst" "0" "00006" "TRIO_000092" "g.14359551C>T" "" "{PMID:Barbosa 2020:32109419}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.14359442C>T" "" "pathogenic (dominant)" "" "0000647257" "0" "90" "5" "14477011" "14477011" "dup" "0" "00006" "TRIO_000091" "g.14477011dup" "" "{PMID:Barbosa 2020:32109419}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.14476902dup" "" "pathogenic (dominant)" "" "0000647258" "0" "90" "5" "14487787" "14487787" "del" "0" "00006" "TRIO_000100" "g.14487787del" "" "{PMID:Barbosa 2020:32109419}" "" "" "5p15.31 VUS paternally inherited, father phetypically rmal\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.14487678del" "" "pathogenic (dominant)" "" "0000647259" "0" "90" "5" "14488198" "14488198" "del" "0" "00006" "TRIO_000101" "g.14488198del" "" "{PMID:Barbosa 2020:32109419}" "" "Phe2473Serfs∗54" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline/De novo (untested)" "" "" "0" "" "" "g.14488089del" "" "pathogenic (dominant)" "" "0000655311" "0" "30" "5" "14291244" "14291244" "subst" "0.000398526" "02326" "TRIO_000103" "g.14291244G>A" "" "" "" "TRIO(NM_007118.4):c.960G>A (p.S320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14291135G>A" "" "likely benign" "" "0000655313" "0" "70" "5" "14374353" "14374353" "subst" "0" "02327" "TRIO_000094" "g.14374353C>T" "" "" "" "TRIO(NM_007118.4):c.3232C>T (p.R1078W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14374244C>T" "" "likely pathogenic" "" "0000659588" "0" "70" "5" "14336647" "14336650" "dup" "0" "01807" "TRIO_000102" "g.14336647_14336650dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.14336538_14336541dup" "" "likely pathogenic" "" "0000666142" "0" "90" "5" "14363863" "14363863" "subst" "0" "01807" "TRIO_000105" "g.14363863G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.14363754G>A" "" "pathogenic" "" "0000677419" "0" "30" "5" "14143875" "14143875" "subst" "0.00320513" "02326" "TRIO_000106" "g.14143875C>T" "" "" "" "TRIO(NM_007118.4):c.41C>T (p.S14F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677421" "0" "30" "5" "14364857" "14364857" "subst" "2.43841E-5" "02326" "TRIO_000057" "g.14364857G>A" "" "" "" "TRIO(NM_007118.2):c.2686G>A (p.(Ala896Thr)), TRIO(NM_007118.3):c.2686G>A (p.A896T), TRIO(NM_007118.4):c.2686G>A (p.A896T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677422" "0" "30" "5" "14387543" "14387543" "subst" "0.00419353" "01804" "TRIO_000107" "g.14387543G>A" "" "" "" "TRIO(NM_007118.2):c.3571-4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677423" "0" "70" "5" "14397227" "14397227" "subst" "0" "01804" "TRIO_000108" "g.14397227C>T" "" "" "" "TRIO(NM_007118.2):c.4387C>T (p.(Arg1463Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000677424" "0" "30" "5" "14406001" "14406001" "subst" "5.28326E-5" "02326" "TRIO_000109" "g.14406001C>T" "" "" "" "TRIO(NM_007118.4):c.4761C>T (p.R1587=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677425" "0" "50" "5" "14479455" "14479455" "subst" "0" "01943" "TRIO_000110" "g.14479455T>C" "" "" "" "TRIO(NM_007118.3):c.6239T>C (p.F2080S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689447" "0" "50" "5" "14488062" "14488062" "subst" "0" "01943" "TRIO_000111" "g.14488062G>A" "" "" "" "TRIO(NM_007118.3):c.7325G>A (p.G2442D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689448" "0" "30" "5" "14498270" "14498270" "subst" "2.84243E-5" "02325" "TRIO_000112" "g.14498270G>A" "" "" "" "TRIO(NM_007118.2):c.8120G>A (p.(Arg2707Gln)), TRIO(NM_007118.4):c.8120G>A (p.R2707Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689449" "0" "50" "5" "14507347" "14507347" "subst" "0" "02327" "TRIO_000113" "g.14507347G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000704152" "0" "90" "5" "14293202" "14293202" "subst" "0" "01807" "TRIO_000114" "g.14293202G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000720233" "0" "30" "5" "14297306" "14297306" "subst" "2.43742E-5" "01943" "TRIO_000115" "g.14297306G>A" "" "" "" "TRIO(NM_007118.3):c.1302G>A (p.A434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720234" "0" "90" "5" "14330974" "14330974" "subst" "0" "02325" "TRIO_000116" "g.14330974C>T" "" "" "" "TRIO(NM_007118.4):c.1819C>T (p.Q607*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720235" "0" "50" "5" "14374354" "14374354" "subst" "0" "02329" "TRIO_000013" "g.14374354G>A" "" "" "" "TRIO(NM_007118.4):c.3233G>A (p.R1078Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720236" "0" "50" "5" "14374389" "14374389" "subst" "0" "02329" "TRIO_000014" "g.14374389A>G" "" "" "" "TRIO(NM_007118.4):c.3268A>G (p.R1090G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720237" "0" "90" "5" "14378209" "14378209" "subst" "0" "02329" "TRIO_000082" "g.14378209C>G" "" "" "" "TRIO(NM_007118.4):c.3420C>G (p.Y1140*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000720238" "0" "50" "5" "14479436" "14479436" "subst" "0" "02329" "TRIO_000117" "g.14479436G>C" "" "" "" "TRIO(NM_007118.4):c.6220G>C (p.E2074Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720239" "0" "30" "5" "14487903" "14487903" "subst" "0.000213925" "02326" "TRIO_000118" "g.14487903C>T" "" "" "" "TRIO(NM_007118.4):c.7166C>T (p.A2389V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720240" "0" "30" "5" "14488386" "14488386" "dup" "0" "02326" "TRIO_000119" "g.14488386dup" "" "" "" "TRIO(NM_007118.4):c.7632+17dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720241" "0" "50" "5" "14492853" "14492853" "subst" "4.06388E-6" "02329" "TRIO_000087" "g.14492853G>A" "" "" "" "TRIO(NM_007118.4):c.7810G>A (p.G2604S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720242" "0" "30" "5" "14498670" "14498670" "subst" "3.65494E-5" "02326" "TRIO_000120" "g.14498670G>A" "" "" "" "TRIO(NM_007118.4):c.8253G>A (p.T2751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720243" "0" "30" "5" "14498691" "14498691" "subst" "0.000146192" "02326" "TRIO_000121" "g.14498691G>A" "" "" "" "TRIO(NM_007118.4):c.8274G>A (p.T2758=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720244" "0" "30" "5" "14507385" "14507385" "subst" "0.000217643" "02326" "TRIO_000122" "g.14507385G>A" "" "" "" "TRIO(NM_007118.4):c.8751+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801934" "0" "50" "5" "14358431" "14358431" "subst" "8.12717E-6" "02325" "TRIO_000123" "g.14358431G>A" "" "" "" "TRIO(NM_007118.4):c.2191G>A (p.G731R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801935" "0" "50" "5" "14364779" "14364779" "subst" "0" "01943" "TRIO_000124" "g.14364779A>G" "" "" "" "TRIO(NM_007118.3):c.2608A>G (p.R870G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801936" "0" "30" "5" "14368906" "14368906" "subst" "5.2794E-5" "01943" "TRIO_000059" "g.14368906C>T" "" "" "" "TRIO(NM_007118.3):c.2964C>T (p.C988=), TRIO(NM_007118.4):c.2964C>T (p.C988=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801937" "0" "50" "5" "14369565" "14369565" "subst" "0.000235619" "01943" "TRIO_000060" "g.14369565A>T" "" "" "" "TRIO(NM_007118.3):c.3149A>T (p.N1050I), TRIO(NM_007118.4):c.3149A>T (p.N1050I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801938" "0" "70" "5" "14374353" "14374353" "subst" "0" "02325" "TRIO_000094" "g.14374353C>T" "" "" "" "TRIO(NM_007118.4):c.3232C>T (p.R1078W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000801939" "0" "30" "5" "14387615" "14387615" "subst" "0.000934412" "01943" "TRIO_000125" "g.14387615T>C" "" "" "" "TRIO(NM_007118.3):c.3639T>C (p.H1213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801940" "0" "50" "5" "14397215" "14397215" "subst" "0" "02325" "TRIO_000126" "g.14397215A>G" "" "" "" "TRIO(NM_007118.2):c.4375A>G (p.(Ser1459Gly)), TRIO(NM_007118.4):c.4375A>G (p.S1459G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801941" "0" "70" "5" "14397234" "14397234" "subst" "0" "02329" "TRIO_000023" "g.14397234A>G" "" "" "" "TRIO(NM_007118.3):c.4394A>G (p.N1465S), TRIO(NM_007118.4):c.4394A>G (p.N1465S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000801942" "0" "50" "5" "14479443" "14479443" "subst" "0" "01943" "TRIO_000127" "g.14479443T>C" "" "" "" "TRIO(NM_007118.3):c.6227T>C (p.I2076T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801943" "0" "70" "5" "14487639" "14487639" "del" "0" "02329" "TRIO_000128" "g.14487639del" "" "" "" "TRIO(NM_007118.4):c.6902delG (p.G2301Afs*112)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000801944" "0" "30" "5" "14487703" "14487703" "subst" "0" "01943" "TRIO_000129" "g.14487703C>T" "" "" "" "TRIO(NM_007118.3):c.6966C>T (p.G2322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801945" "0" "50" "5" "14502771" "14502771" "subst" "0" "01943" "TRIO_000130" "g.14502771G>T" "" "" "" "TRIO(NM_007118.3):c.8411+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801946" "0" "30" "5" "14508068" "14508068" "subst" "0.000779632" "01943" "TRIO_000131" "g.14508068A>G" "" "" "" "TRIO(NM_007118.3):c.8831A>G (p.N2944S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801947" "0" "50" "5" "14508257" "14508257" "subst" "0" "02327" "TRIO_000132" "g.14508257T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000837048" "0" "70" "5" "14374353" "14374353" "subst" "0" "02494" "TRIO_000094" "g.14374353C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000846445" "0" "70" "5" "14291041" "14291041" "dup" "0" "01164" "TRIO_000133" "g.14291041dup" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline/De novo (untested)" "?" "" "0" "" "" "g.14290932dup" "" "likely pathogenic (dominant)" "ACMG" "0000850812" "0" "30" "5" "14316747" "14316747" "subst" "1.22015E-5" "01943" "TRIO_000135" "g.14316747C>T" "" "" "" "TRIO(NM_007118.3):c.1626C>T (p.H542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850813" "0" "30" "5" "14364857" "14364857" "subst" "2.43841E-5" "01943" "TRIO_000057" "g.14364857G>A" "" "" "" "TRIO(NM_007118.2):c.2686G>A (p.(Ala896Thr)), TRIO(NM_007118.3):c.2686G>A (p.A896T), TRIO(NM_007118.4):c.2686G>A (p.A896T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850814" "0" "30" "5" "14378113" "14378113" "subst" "0.000231368" "02326" "TRIO_000061" "g.14378113T>C" "" "" "" "TRIO(NM_007118.3):c.3332-8T>C, TRIO(NM_007118.4):c.3332-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850815" "0" "10" "5" "14388815" "14388815" "del" "0" "02325" "TRIO_000018" "g.14388815del" "" "" "" "TRIO(NM_007118.3):c.3948+27delT, TRIO(NM_007118.4):c.3948+27delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850816" "0" "30" "5" "14405966" "14405966" "subst" "8.93815E-5" "02325" "TRIO_000137" "g.14405966A>G" "" "" "" "TRIO(NM_007118.4):c.4726A>G (p.I1576V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850817" "0" "30" "5" "14488134" "14488134" "subst" "0.000159205" "01943" "TRIO_000138" "g.14488134C>T" "" "" "" "TRIO(NM_007118.3):c.7397C>T (p.P2466L), TRIO(NM_007118.4):c.7397C>T (p.P2466L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850818" "0" "30" "5" "14488134" "14488134" "subst" "0.000159205" "02326" "TRIO_000138" "g.14488134C>T" "" "" "" "TRIO(NM_007118.3):c.7397C>T (p.P2466L), TRIO(NM_007118.4):c.7397C>T (p.P2466L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850819" "0" "30" "5" "14508411" "14508411" "subst" "0.000504311" "01943" "TRIO_000139" "g.14508411G>T" "" "" "" "TRIO(NM_007118.3):c.9174G>T (p.T3058=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859793" "0" "50" "5" "14297290" "14297290" "subst" "4.062E-6" "02329" "TRIO_000134" "g.14297290A>G" "" "" "" "TRIO(NM_007118.4):c.1286A>G (p.E429G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886653" "0" "70" "5" "14390366" "14390367" "del" "0" "02329" "TRIO_000140" "g.14390366_14390367del" "" "" "" "TRIO(NM_007118.4):c.4085_4086delAT (p.Y1362*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000886654" "0" "50" "5" "14487609" "14487609" "subst" "0" "02325" "TRIO_000141" "g.14487609G>A" "" "" "" "TRIO(NM_007118.4):c.6872G>A (p.S2291N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886655" "0" "50" "5" "14487797" "14487797" "subst" "0" "02325" "TRIO_000142" "g.14487797T>G" "" "" "" "TRIO(NM_007118.4):c.7060T>G (p.S2354A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886656" "0" "50" "5" "14492832" "14492832" "subst" "0" "02326" "TRIO_000143" "g.14492832G>C" "" "" "" "TRIO(NM_007118.4):c.7789G>C (p.D2597H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886657" "0" "30" "5" "14492907" "14492907" "subst" "4.901E-5" "02325" "TRIO_000144" "g.14492907C>A" "" "" "" "TRIO(NM_007118.4):c.7864C>A (p.P2622T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912248" "0" "30" "5" "14293213" "14293213" "subst" "3.65595E-5" "02326" "TRIO_000145" "g.14293213G>A" "" "" "" "TRIO(NM_007118.4):c.1146G>A (p.T382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912249" "0" "10" "5" "14388815" "14388815" "del" "0" "02326" "TRIO_000018" "g.14388815del" "" "" "" "TRIO(NM_007118.3):c.3948+27delT, TRIO(NM_007118.4):c.3948+27delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912250" "0" "70" "5" "14390384" "14390384" "subst" "0" "02327" "TRIO_000002" "g.14390384A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912251" "0" "30" "5" "14465657" "14465657" "subst" "0.000337045" "02325" "TRIO_000146" "g.14465657T>C" "" "" "" "TRIO(NM_007118.4):c.5671T>C (p.S1891P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912252" "0" "70" "5" "14496986" "14496986" "subst" "0" "02327" "TRIO_000147" "g.14496986A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912253" "0" "70" "5" "14507265" "14507265" "subst" "0" "02327" "TRIO_000148" "g.14507265C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000924266" "0" "50" "5" "14368974" "14368974" "subst" "4.06131E-6" "02327" "TRIO_000149" "g.14368974A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924267" "0" "30" "5" "14369565" "14369565" "subst" "0.000235619" "02325" "TRIO_000060" "g.14369565A>T" "" "" "" "TRIO(NM_007118.3):c.3149A>T (p.N1050I), TRIO(NM_007118.4):c.3149A>T (p.N1050I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924268" "0" "50" "5" "14488161" "14488161" "subst" "3.13584E-5" "02325" "TRIO_000150" "g.14488161C>A" "" "" "" "TRIO(NM_007118.4):c.7424C>A (p.P2475H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924269" "0" "70" "5" "14507269" "14507269" "subst" "0" "02327" "TRIO_000151" "g.14507269G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000927956" "0" "70" "5" "14394195" "14394195" "subst" "0" "01164" "TRIO_000152" "g.14394195A>T" "" "" "LanerMGZ" "" "ACMG: PM1, PS2_SUP, PM2_SUP, PP2, PP3" "De novo" "-" "" "0" "" "" "g.14394086A>T" "" "likely pathogenic (dominant)" "ACMG" "0000929029" "0" "70" "5" "14297358" "14297358" "subst" "0" "02327" "TRIO_000153" "g.14297358C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000929030" "0" "50" "5" "14336753" "14336753" "subst" "0" "02325" "TRIO_000154" "g.14336753C>T" "" "" "" "TRIO(NM_007118.4):c.1963C>T (p.R655W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929032" "0" "50" "5" "14482725" "14482725" "subst" "0" "02327" "TRIO_000155" "g.14482725A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948501" "0" "50" "5" "14471577" "14471580" "del" "0" "02329" "TRIO_000156" "g.14471577_14471580del" "" "" "" "TRIO(NM_007118.4):c.5912_5912+3delAGTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963494" "0" "50" "5" "14461389" "14461389" "subst" "0" "02325" "TRIO_000157" "g.14461389C>T" "" "" "" "TRIO(NM_007118.4):c.5465C>T (p.A1822V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963495" "0" "50" "5" "14462870" "14462870" "subst" "0" "02325" "TRIO_000158" "g.14462870C>T" "" "" "" "TRIO(NM_007118.4):c.5503C>T (p.R1835W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963497" "0" "50" "5" "14488290" "14488290" "subst" "0" "02325" "TRIO_000159" "g.14488290C>A" "" "" "" "TRIO(NM_007118.2):c.7553C>A (p.(Ala2518Asp)), TRIO(NM_007118.4):c.7553C>A (p.A2518D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976620" "0" "50" "5" "14184364" "14184364" "subst" "0" "01804" "TRIO_000160" "g.14184364C>T" "" "" "" "TRIO(NM_007118.4):c.157+40373C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976623" "0" "30" "5" "14280497" "14280497" "subst" "8.12315E-6" "01804" "TRIO_000161" "g.14280497G>A" "" "" "" "TRIO(NM_007118.4):c.299G>A (p.(Arg100Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976624" "0" "30" "5" "14293574" "14293574" "subst" "0" "01804" "TRIO_000162" "g.14293574C>T" "" "" "" "TRIO(NM_007118.4):c.1176+331C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976625" "0" "30" "5" "14363929" "14363929" "subst" "0.000125884" "01804" "TRIO_000163" "g.14363929G>A" "" "" "" "TRIO(NM_007118.4):c.2480G>A (p.(Arg827His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976626" "0" "50" "5" "14389440" "14389440" "subst" "0" "01804" "TRIO_000164" "g.14389440C>T" "" "" "" "TRIO(NM_007118.4):c.3991C>T (p.(Pro1331Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976627" "0" "30" "5" "14461357" "14461357" "subst" "0" "01804" "TRIO_000165" "g.14461357C>G" "" "" "" "TRIO(NM_007118.4):c.5433C>G (p.(Asp1811Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976628" "0" "50" "5" "14463003" "14463003" "subst" "0" "01804" "TRIO_000166" "g.14463003G>A" "" "" "" "TRIO(NM_007118.4):c.5636G>A (p.(Ser1879Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976629" "0" "30" "5" "14472201" "14472201" "subst" "0" "01804" "TRIO_000167" "g.14472201A>G" "" "" "" "TRIO(NM_007118.4):c.5913-500A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976630" "0" "30" "5" "14487631" "14487636" "dup" "0" "01804" "TRIO_000168" "g.14487631_14487636dup" "" "" "" "TRIO(NM_007118.4):c.6894_6899dup (p.(Ser2299_Gly2300dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976631" "0" "30" "5" "14488142" "14488142" "subst" "0.000322641" "01804" "TRIO_000036" "g.14488142G>A" "" "" "" "TRIO(NM_007118.3):c.7405G>A (p.G2469S), TRIO(NM_007118.4):c.7405G>A (p.(Gly2469Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976632" "0" "50" "5" "14488292" "14488292" "subst" "0" "01804" "TRIO_000169" "g.14488292C>T" "" "" "" "TRIO(NM_007118.4):c.7555C>T (p.(Pro2519Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989919" "0" "70" "5" "14397221" "14397221" "subst" "0" "03779" "TRIO_000170" "g.14397221C>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000994721" "0" "30" "5" "14143853" "14143853" "subst" "0" "01804" "TRIO_000171" "g.14143853G>A" "" "" "" "TRIO(NM_007118.2):c.19G>A (p.(Gly7Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994722" "0" "30" "5" "14290917" "14290917" "subst" "0" "01804" "TRIO_000172" "g.14290917A>C" "" "" "" "TRIO(NM_007118.2):c.633A>C (p.(Glu211Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994723" "0" "50" "5" "14316767" "14316767" "subst" "8.1357E-6" "01804" "TRIO_000173" "g.14316767G>A" "" "" "" "TRIO(NM_007118.2):c.1646G>A (p.(Arg549Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994724" "0" "50" "5" "14358336" "14358336" "subst" "0" "01804" "TRIO_000174" "g.14358336A>G" "" "" "" "TRIO(NM_007118.2):c.2096A>G (p.(Tyr699Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994725" "0" "50" "5" "14358374" "14358374" "subst" "1.62476E-5" "01804" "TRIO_000175" "g.14358374C>T" "" "" "" "TRIO(NM_007118.2):c.2134C>T (p.(Arg712Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994726" "0" "50" "5" "14358384" "14358384" "subst" "0" "01804" "TRIO_000176" "g.14358384A>G" "" "" "" "TRIO(NM_007118.2):c.2144A>G (p.(Gln715Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994727" "0" "30" "5" "14367062" "14367062" "subst" "0" "02327" "TRIO_000177" "g.14367062C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994728" "0" "50" "5" "14387557" "14387557" "subst" "0" "01804" "TRIO_000178" "g.14387557A>G" "" "" "" "TRIO(NM_007118.2):c.3581A>G (p.(Glu1194Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994729" "0" "50" "5" "14387617" "14387617" "subst" "8.12632E-6" "01804" "TRIO_000179" "g.14387617C>T" "" "" "" "TRIO(NM_007118.2):c.3641C>T (p.(Ala1214Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994730" "0" "50" "5" "14389425" "14389425" "subst" "0" "01804" "TRIO_000180" "g.14389425G>A" "" "" "" "TRIO(NM_007118.2):c.3976G>A (p.(Val1326Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994731" "0" "50" "5" "14389467" "14389467" "subst" "0" "01804" "TRIO_000020" "g.14389467A>G" "" "" "" "TRIO(NM_007118.2):c.4018A>G (p.(Ile1340Val)), TRIO(NM_007118.4):c.4018A>G (p.I1340V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994732" "0" "30" "5" "14397215" "14397215" "subst" "0" "01804" "TRIO_000126" "g.14397215A>G" "" "" "" "TRIO(NM_007118.2):c.4375A>G (p.(Ser1459Gly)), TRIO(NM_007118.4):c.4375A>G (p.S1459G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994733" "0" "50" "5" "14420023" "14420023" "subst" "0" "01804" "TRIO_000181" "g.14420023G>A" "" "" "" "TRIO(NM_007118.2):c.5096G>A (p.(Arg1699Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994734" "0" "30" "5" "14461283" "14461283" "subst" "0" "01804" "TRIO_000183" "g.14461283G>T" "" "" "" "TRIO(NM_007118.2):c.5359G>T (p.(Gly1787Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994735" "0" "30" "5" "14461301" "14461301" "subst" "6.48517E-6" "01804" "TRIO_000184" "g.14461301G>T" "" "" "" "TRIO(NM_007118.2):c.5377G>T (p.(Val1793Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994736" "0" "30" "5" "14485286" "14485286" "subst" "0" "01804" "TRIO_000185" "g.14485286C>T" "" "" "" "TRIO(NM_007118.2):c.6766C>T (p.(Pro2256Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994737" "0" "50" "5" "14485344" "14485344" "subst" "4.20822E-6" "01804" "TRIO_000186" "g.14485344A>G" "" "" "" "TRIO(NM_007118.2):c.6824A>G (p.(Asn2275Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994738" "0" "50" "5" "14485359" "14485359" "subst" "4.21969E-6" "01804" "TRIO_000187" "g.14485359A>T" "" "" "" "TRIO(NM_007118.2):c.6835+4A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994739" "0" "50" "5" "14487627" "14487627" "subst" "0" "02325" "TRIO_000188" "g.14487627G>A" "" "" "" "TRIO(NM_007118.4):c.6890G>A (p.G2297D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994740" "0" "30" "5" "14487629" "14487631" "del" "0" "01804" "TRIO_000189" "g.14487629_14487631del" "" "" "" "TRIO(NM_007118.2):c.6892_6894delGGC (p.(Gly2298del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994741" "0" "50" "5" "14487670" "14487672" "dup" "0" "01804" "TRIO_000190" "g.14487670_14487672dup" "" "" "" "TRIO(NM_007118.2):c.6933_6935dupCGG (p.(Gly2312dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994742" "0" "30" "5" "14487719" "14487719" "subst" "0" "01804" "TRIO_000191" "g.14487719G>A" "" "" "" "TRIO(NM_007118.2):c.6982G>A (p.(Gly2328Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994743" "0" "50" "5" "14487786" "14487786" "subst" "0" "01804" "TRIO_000192" "g.14487786C>A" "" "" "" "TRIO(NM_007118.2):c.7049C>A (p.(Pro2350His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994744" "0" "30" "5" "14487810" "14487810" "subst" "0" "01804" "TRIO_000193" "g.14487810C>G" "" "" "" "TRIO(NM_007118.2):c.7073C>G (p.(Ser2358Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994745" "0" "30" "5" "14488010" "14488010" "subst" "0" "01804" "TRIO_000194" "g.14488010G>A" "" "" "" "TRIO(NM_007118.2):c.7273G>A (p.(Ala2425Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994746" "0" "30" "5" "14488031" "14488031" "subst" "8.13458E-6" "01804" "TRIO_000195" "g.14488031G>A" "" "" "" "TRIO(NM_007118.2):c.7294G>A (p.(Ala2432Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994747" "0" "30" "5" "14488047" "14488047" "subst" "0" "01804" "TRIO_000196" "g.14488047C>T" "" "" "" "TRIO(NM_007118.2):c.7310C>T (p.(Ala2437Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994748" "0" "30" "5" "14488071" "14488071" "subst" "2.14832E-5" "01804" "TRIO_000074" "g.14488071C>T" "" "" "" "TRIO(NM_007118.2):c.7334C>T (p.(Pro2445Leu)), TRIO(NM_007118.4):c.7334C>T (p.P2445L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994749" "0" "50" "5" "14488200" "14488200" "subst" "0" "01804" "TRIO_000197" "g.14488200C>T" "" "" "" "TRIO(NM_007118.2):c.7463C>T (p.(Ser2488Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994750" "0" "30" "5" "14488290" "14488290" "subst" "0" "01804" "TRIO_000159" "g.14488290C>A" "" "" "" "TRIO(NM_007118.2):c.7553C>A (p.(Ala2518Asp)), TRIO(NM_007118.4):c.7553C>A (p.A2518D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994751" "0" "50" "5" "14492691" "14492691" "subst" "0" "01804" "TRIO_000198" "g.14492691A>G" "" "" "" "TRIO(NM_007118.2):c.7648A>G (p.(Ser2550Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994752" "0" "30" "5" "14497073" "14497073" "subst" "1.21819E-5" "01804" "TRIO_000199" "g.14497073G>A" "" "" "" "TRIO(NM_007118.2):c.7966G>A (p.(Glu2656Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994753" "0" "50" "5" "14497963" "14497963" "subst" "0" "01804" "TRIO_000200" "g.14497963A>T" "" "" "" "TRIO(NM_007118.2):c.8027A>T (p.(Asn2676Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994754" "0" "30" "5" "14498270" "14498270" "subst" "2.84243E-5" "01804" "TRIO_000112" "g.14498270G>A" "" "" "" "TRIO(NM_007118.2):c.8120G>A (p.(Arg2707Gln)), TRIO(NM_007118.4):c.8120G>A (p.R2707Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994755" "0" "50" "5" "14498281" "14498281" "subst" "2.84243E-5" "01804" "TRIO_000201" "g.14498281C>T" "" "" "" "TRIO(NM_007118.2):c.8131C>T (p.(Arg2711Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994756" "0" "30" "5" "14498696" "14498696" "subst" "1.6243E-5" "01804" "TRIO_000202" "g.14498696T>C" "" "" "" "TRIO(NM_007118.2):c.8279T>C (p.(Ile2760Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994757" "0" "30" "5" "14502714" "14502714" "subst" "0.000276135" "01804" "TRIO_000088" "g.14502714A>T" "" "" "" "TRIO(NM_007118.2):c.8359A>T (p.(Thr2787Ser)), TRIO(NM_007118.3):c.8359A>T (p.T2787S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994758" "0" "50" "5" "14508071" "14508071" "subst" "2.8425E-5" "01804" "TRIO_000203" "g.14508071C>T" "" "" "" "TRIO(NM_007118.2):c.8834C>T (p.(Thr2945Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007040" "0" "70" "5" "14461263" "14461263" "subst" "0" "03544" "TRIO_000182" "g.14461263C>T" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.14461154C>T" "" "likely pathogenic" "ACMG" "0001011147" "11" "70" "5" "14316689" "14316689" "subst" "0" "00006" "TRIO_000204" "g.14316689C>G" "" "{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}" "" "" "" "Germline" "" "" "0" "" "" "NC_000005.10:g.14316580C>G" "" "VUS" "" "0001014089" "0" "50" "5" "14492754" "14492754" "subst" "0" "02325" "TRIO_000205" "g.14492754A>T" "" "" "" "TRIO(NM_007118.4):c.7711A>T (p.N2571Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014090" "0" "50" "5" "14507307" "14507307" "subst" "0" "02325" "TRIO_000206" "g.14507307G>T" "" "" "" "TRIO(NM_007118.4):c.8689G>T (p.G2897W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014091" "0" "30" "5" "14508394" "14508394" "subst" "0.000109819" "02325" "TRIO_000079" "g.14508394G>A" "" "" "" "TRIO(NM_007118.4):c.9157G>A (p.G3053S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001029858" "0" "70" "5" "14374337" "14374337" "subst" "0" "01164" "TRIO_000207" "g.14374337G>C" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "" "" "" "g.14374228G>C" "" "likely pathogenic (dominant)" "ACMG" "0001030195" "0" "70" "5" "14488096" "14488096" "del" "0" "01164" "TRIO_000208" "g.14488096del" "" "" "" "" "ACMG: PVS1, PS4_SUP" "Germline" "?" "" "" "" "" "g.14487987del" "VCV001013247.26" "likely pathogenic (dominant)" "ACMG" "0001030934" "0" "70" "5" "14387554" "14387557" "del" "0" "03544" "TRIO_000209" "g.14387554_14387557del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.14387445_14387448del" "" "likely pathogenic" "ACMG" "0001034961" "0" "30" "5" "14222070" "14222070" "subst" "0" "01804" "TRIO_000210" "g.14222070G>A" "" "" "" "TRIO(NM_007118.4):c.158-48864G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034962" "0" "30" "5" "14280733" "14280733" "subst" "0" "01804" "TRIO_000211" "g.14280733C>T" "" "" "" "TRIO(NM_007118.4):c.347+188C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034963" "0" "30" "5" "14288549" "14288549" "subst" "0" "01804" "TRIO_000212" "g.14288549G>A" "" "" "" "TRIO(NM_007118.4):c.540+1377G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034964" "0" "30" "5" "14297381" "14297381" "subst" "0" "01804" "TRIO_000213" "g.14297381C>T" "" "" "" "TRIO(NM_007118.4):c.1368+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034965" "0" "30" "5" "14316619" "14316619" "subst" "0" "01804" "TRIO_000214" "g.14316619C>T" "" "" "" "TRIO(NM_007118.4):c.1501-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034966" "0" "30" "5" "14357973" "14357973" "subst" "0" "01804" "TRIO_000215" "g.14357973C>T" "" "" "" "TRIO(NM_007118.4):c.2047-314C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034967" "0" "30" "5" "14367010" "14367010" "subst" "2.84266E-5" "02326" "TRIO_000216" "g.14367010C>T" "" "" "" "TRIO(NM_007118.4):c.2796C>T (p.A932=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034968" "0" "30" "5" "14368807" "14368808" "del" "0" "01804" "TRIO_000217" "g.14368807_14368808del" "" "" "" "TRIO(NM_007118.4):c.2875-10_2875-9del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034969" "0" "30" "5" "14369547" "14369547" "subst" "0" "01804" "TRIO_000218" "g.14369547C>T" "" "" "" "TRIO(NM_007118.4):c.3131C>T (p.(Ala1044Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034970" "0" "50" "5" "14387663" "14387663" "subst" "4.06128E-6" "01804" "TRIO_000219" "g.14387663A>C" "" "" "" "TRIO(NM_007118.4):c.3687A>C (p.(Arg1229Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034971" "0" "30" "5" "14389621" "14389621" "subst" "0" "01804" "TRIO_000220" "g.14389621A>C" "" "" "" "TRIO(NM_007118.4):c.4058+114A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034972" "0" "50" "5" "14419900" "14419900" "subst" "0" "01804" "TRIO_000221" "g.14419900G>C" "" "" "" "TRIO(NM_007118.4):c.4973G>C (p.(Cys1658Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034973" "0" "30" "5" "14482732" "14482732" "subst" "0" "01804" "TRIO_000222" "g.14482732A>G" "" "" "" "TRIO(NM_007118.4):c.6507A>G (p.(Thr2169=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034974" "0" "50" "5" "14482758" "14482758" "subst" "0" "01804" "TRIO_000223" "g.14482758G>T" "" "" "" "TRIO(NM_007118.4):c.6533G>T (p.(Gly2178Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034975" "0" "30" "5" "14487776" "14487776" "subst" "6.33437E-5" "01804" "TRIO_000224" "g.14487776C>T" "" "" "" "TRIO(NM_007118.4):c.7039C>T (p.(His2347Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034976" "0" "30" "5" "14488046" "14488046" "subst" "0.000190886" "02326" "TRIO_000225" "g.14488046G>A" "" "" "" "TRIO(NM_007118.4):c.7309G>A (p.A2437T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034977" "0" "50" "5" "14488050" "14488050" "subst" "0" "01804" "TRIO_000226" "g.14488050G>A" "" "" "" "TRIO(NM_007118.4):c.7313G>A (p.(Arg2438His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034978" "0" "10" "5" "14488227" "14488227" "subst" "7.52465E-5" "01804" "TRIO_000227" "g.14488227C>T" "" "" "" "TRIO(NM_007118.4):c.7490C>T (p.(Pro2497Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001034979" "0" "30" "5" "14488378" "14488378" "subst" "0" "01804" "TRIO_000228" "g.14488378G>A" "" "" "" "TRIO(NM_007118.4):c.7632+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034980" "0" "50" "5" "14497085" "14497085" "subst" "1.62434E-5" "01804" "TRIO_000229" "g.14497085C>T" "" "" "" "TRIO(NM_007118.4):c.7978C>T (p.(Arg2660Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034981" "0" "30" "5" "14498212" "14498212" "subst" "5.68509E-5" "01804" "TRIO_000230" "g.14498212G>A" "" "" "" "TRIO(NM_007118.4):c.8062G>A (p.(Val2688Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034982" "0" "50" "5" "14498708" "14498708" "subst" "0" "02325" "TRIO_000231" "g.14498708A>C" "" "" "" "TRIO(NM_007118.4):c.8291A>C (p.D2764A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034983" "0" "50" "5" "14509493" "14509494" "ins" "0" "01804" "TRIO_000232" "g.14509493_14509494insAG" "" "" "" "TRIO(NM_007118.4):c.*962_*963insAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034984" "0" "50" "5" "14509809" "14509809" "subst" "0" "01804" "TRIO_000233" "g.14509809G>A" "" "" "" "TRIO(NM_007118.4):c.*1278G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047182" "0" "50" "5" "14481704" "14481704" "subst" "0" "03820" "TRIO_000234" "g.14481704G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.14481595G>C" "" "VUS" "ACMG" "0001047561" "0" "70" "5" "14143956" "14143956" "del" "0" "03779" "TRIO_000235" "g.14143956del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" ## 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 TRIO ## Count = 269 "{{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}}" "0000000124" "00001400" "90" "7461" "0" "7461" "0" "c.7461del" "r.(?)" "p.(Ser2488Profs*39)" "" "0000012100" "00001400" "50" "157" "56177" "157" "56177" "c.157+56177C>G" "r.(=)" "p.(=)" "" "0000046790" "00001400" "30" "4103" "0" "4103" "0" "c.4103A>T" "r.(?)" "p.(Asp1368Val)" "" "0000079460" "00001400" "00" "4381" "0" "4381" "0" "c.4381C>A" "r.(?)" "p.(Pro1461Thr)" "" "0000079490" "00001400" "00" "-3170422" "0" "1438209" "0" "c.-3170422_*1428915del" "r.0?" "p.0?" "" "0000079690" "00001400" "00" "4382" "0" "4382" "0" "c.4382C>T" "r.(?)" "p.(Pro1461Leu)" "" "0000234496" "00001400" "90" "3806" "0" "3806" "0" "c.3806del" "r.(?)" "p.(Pro1269Leufs*5)" "" "0000236493" "00001400" "50" "5204" "-19789" "5667" "20" "c.5204-19789_5667+20del" "r.?" "p.?" "34i_36i" "0000248548" "00001400" "10" "5100" "0" "5100" "0" "c.5100A>C" "r.(?)" "p.(Thr1700=)" "" "0000249744" "00001400" "50" "4018" "0" "4018" "0" "c.4018A>G" "r.(?)" "p.(Ile1340Val)" "" "0000253787" "00001400" "10" "3067" "-4" "3067" "-4" "c.3067-4A>T" "r.spl?" "p.?" "" "0000255874" "00001400" "50" "5807" "0" "5807" "0" "c.5807A>T" "r.(?)" "p.(Asp1936Val)" "" "0000255904" "00001400" "50" "3896" "0" "3896" "0" "c.3896A>G" "r.(?)" "p.(Glu1299Gly)" "" "0000256363" "00001400" "50" "4394" "0" "4394" "0" "c.4394A>G" "r.(?)" "p.(Asn1465Ser)" "" "0000312045" "00001400" "10" "157" "40088" "157" "40088" "c.157+40088G>A" "r.(=)" "p.(=)" "" "0000312046" "00001400" "10" "3033" "0" "3033" "0" "c.3033C>T" "r.(?)" "p.(Asn1011=)" "" "0000312047" "00001400" "10" "4398" "0" "4398" "0" "c.4398T>C" "r.(?)" "p.(Asp1466=)" "" "0000312048" "00001400" "10" "541" "-20" "541" "-20" "c.541-20G>A" "r.(=)" "p.(=)" "" "0000312049" "00001400" "50" "7436" "0" "7436" "0" "c.7436T>G" "r.(?)" "p.(Leu2479Arg)" "" "0000313509" "00001400" "50" "5867" "0" "5867" "0" "c.5867T>C" "r.(?)" "p.(Ile1956Thr)" "" "0000314834" "00001400" "30" "4311" "13" "4311" "13" "c.4311+13C>T" "r.(=)" "p.(=)" "" "0000314835" "00001400" "30" "6561" "0" "6561" "0" "c.6561C>T" "r.(?)" "p.(Arg2187=)" "" "0000314836" "00001400" "10" "7367" "0" "7367" "0" "c.7367C>T" "r.(?)" "p.(Pro2456Leu)" "" "0000317055" "00001400" "10" "2811" "0" "2811" "0" "c.2811C>G" "r.(?)" "p.(Ala937=)" "" "0000317056" "00001400" "30" "2889" "0" "2889" "0" "c.2889C>T" "r.(?)" "p.(Ser963=)" "" "0000317057" "00001400" "30" "3348" "0" "3348" "0" "c.3348C>T" "r.(?)" "p.(Leu1116=)" "" "0000317058" "00001400" "10" "3948" "26" "3948" "27" "c.3948+26_3948+27del" "r.(=)" "p.(=)" "" "0000317060" "00001400" "10" "3948" "27" "3948" "27" "c.3948+27del" "r.(=)" "p.(=)" "" "0000317061" "00001400" "30" "4129" "-9" "4129" "-9" "c.4129-9G>T" "r.(=)" "p.(=)" "" "0000317062" "00001400" "50" "4921" "0" "4921" "0" "c.4921G>A" "r.(?)" "p.(Ala1641Thr)" "" "0000317063" "00001400" "30" "5592" "0" "5592" "0" "c.5592C>T" "r.(?)" "p.(Ala1864=)" "" "0000317064" "00001400" "10" "6540" "0" "6540" "0" "c.6540G>C" "r.(?)" "p.(Leu2180=)" "" "0000317065" "00001400" "30" "6914" "0" "6914" "0" "c.6914G>A" "r.(?)" "p.(Gly2305Asp)" "" "0000317066" "00001400" "10" "7115" "0" "7115" "0" "c.7115C>T" "r.(?)" "p.(Pro2372Leu)" "" "0000317067" "00001400" "30" "7217" "0" "7217" "0" "c.7217C>T" "r.(?)" "p.(Ala2406Val)" "" "0000317068" "00001400" "30" "7405" "0" "7405" "0" "c.7405G>A" "r.(?)" "p.(Gly2469Ser)" "" "0000330290" "00001400" "30" "7457" "0" "7468" "0" "c.7457_7468del" "r.(?)" "p.(Trp2486_Pro2490delinsSer)" "" "0000339175" "00001400" "50" "8357" "0" "8357" "0" "c.8357T>A" "r.(?)" "p.(Val2786Glu)" "" "0000341286" "00001400" "50" "7069" "0" "7069" "0" "c.7069G>C" "r.(?)" "p.(Ala2357Pro)" "" "0000341700" "00001400" "50" "3233" "0" "3233" "0" "c.3233G>A" "r.(?)" "p.(Arg1078Gln)" "" "0000341915" "00001400" "70" "4283" "0" "4283" "0" "c.4283G>A" "r.(?)" "p.(Arg1428Gln)" "" "0000342903" "00001400" "50" "1319" "0" "1319" "0" "c.1319G>A" "r.(?)" "p.(Arg440Gln)" "" "0000344251" "00001400" "30" "3659" "0" "3659" "0" "c.3659G>A" "r.(?)" "p.(Cys1220Tyr)" "" "0000346852" "00001400" "50" "3371" "0" "3371" "0" "c.3371T>C" "r.(?)" "p.(Leu1124Ser)" "" "0000348221" "00001400" "30" "4835" "0" "4835" "0" "c.4835C>A" "r.(?)" "p.(Pro1612His)" "" "0000407979" "00001400" "00" "7688" "0" "7688" "0" "c.7688C>T" "r.(?)" "p.(Thr2563Met)" "" "0000438973" "00001400" "90" "4311" "1" "4311" "1" "c.4311+1G>A" "r.spl" "p.?" "" "0000472369" "00001400" "90" "7040" "0" "7040" "0" "c.7040del" "r.(?)" "p.(His2347Profs*66)" "" "0000484102" "00001400" "70" "7027" "0" "7027" "0" "c.7027del" "r.(?)" "p.(Gln2343Serfs*70)" "" "0000524609" "00001400" "30" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Ala12Thr)" "" "0000524610" "00001400" "30" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Ala12Thr)" "" "0000524616" "00001400" "90" "439" "0" "439" "0" "c.439G>T" "r.(?)" "p.(Glu147Ter)" "" "0000524617" "00001400" "50" "505" "0" "506" "0" "c.505_506del" "r.(?)" "p.(Arg169AspfsTer2)" "" "0000524618" "00001400" "30" "1015" "0" "1015" "0" "c.1015T>G" "r.(?)" "p.(Cys339Gly)" "" "0000524620" "00001400" "30" "2053" "0" "2053" "0" "c.2053A>T" "r.(?)" "p.(Thr685Ser)" "" "0000524621" "00001400" "30" "2182" "0" "2182" "0" "c.2182A>G" "r.(?)" "p.(Ile728Val)" "" "0000524622" "00001400" "30" "2686" "0" "2686" "0" "c.2686G>A" "r.(?)" "p.(Ala896Thr)" "" "0000524623" "00001400" "30" "2748" "0" "2748" "0" "c.2748G>T" "r.(?)" "p.(Val916=)" "" "0000524624" "00001400" "30" "2964" "0" "2964" "0" "c.2964C>T" "r.(?)" "p.(Cys988=)" "" "0000524625" "00001400" "30" "3149" "0" "3149" "0" "c.3149A>T" "r.(?)" "p.(Asn1050Ile)" "" "0000524626" "00001400" "30" "3332" "-8" "3332" "-8" "c.3332-8T>C" "r.(=)" "p.(=)" "" "0000524627" "00001400" "50" "3474" "0" "3474" "0" "c.3474C>T" "r.(?)" "p.(Gly1158=)" "" "0000524628" "00001400" "70" "3876" "0" "3876" "0" "c.3876G>C" "r.(?)" "p.(Arg1292Ser)" "" "0000524629" "00001400" "10" "3948" "26" "3948" "27" "c.3948+26_3948+27dup" "r.(=)" "p.(=)" "" "0000524630" "00001400" "30" "3948" "26" "3948" "27" "c.3948+26_3948+27dup" "r.(=)" "p.(=)" "" "0000524631" "00001400" "30" "4129" "-8" "4129" "-8" "c.4129-8G>T" "r.(=)" "p.(=)" "" "0000524632" "00001400" "30" "4129" "-7" "4129" "-7" "c.4129-7C>T" "r.(=)" "p.(=)" "" "0000524633" "00001400" "30" "4129" "-4" "4129" "-4" "c.4129-4A>T" "r.spl?" "p.?" "" "0000524634" "00001400" "50" "4280" "0" "4280" "0" "c.4280A>T" "r.(?)" "p.(Gln1427Leu)" "" "0000524635" "00001400" "30" "4959" "14" "4959" "14" "c.4959+14G>A" "r.(=)" "p.(=)" "" "0000524640" "00001400" "50" "5377" "0" "5377" "0" "c.5377G>A" "r.(?)" "p.(Val1793Met)" "" "0000524641" "00001400" "50" "5988" "0" "5988" "0" "c.5988G>A" "r.(?)" "p.(Met1996Ile)" "" "0000524642" "00001400" "30" "5989" "0" "5989" "0" "c.5989G>A" "r.(?)" "p.(Ala1997Thr)" "" "0000524643" "00001400" "30" "6466" "-3" "6466" "-3" "c.6466-3T>C" "r.spl?" "p.?" "" "0000524644" "00001400" "30" "6914" "0" "6914" "0" "c.6914G>A" "r.(?)" "p.(Gly2305Asp)" "" "0000524645" "00001400" "30" "7334" "0" "7334" "0" "c.7334C>T" "r.(?)" "p.(Pro2445Leu)" "" "0000524646" "00001400" "30" "8211" "-5" "8211" "-5" "c.8211-5C>T" "r.spl?" "p.?" "" "0000524648" "00001400" "50" "8332" "1" "8332" "7" "c.8332+1_8332+7dup" "r.spl?" "p.?" "" "0000524649" "00001400" "30" "8875" "0" "8875" "0" "c.8875G>A" "r.(?)" "p.(Ala2959Thr)" "" "0000524651" "00001400" "30" "9164" "0" "9164" "0" "c.9164G>T" "r.(?)" "p.(Gly3055Val)" "" "0000609545" "00001400" "30" "771" "0" "771" "0" "c.771C>G" "r.(?)" "p.(Ile257Met)" "" "0000609547" "00001400" "30" "4423" "14" "4423" "14" "c.4423+14C>T" "r.(=)" "p.(=)" "" "0000609548" "00001400" "50" "7349" "0" "7349" "0" "c.7349G>A" "r.(?)" "p.(Arg2450Gln)" "" "0000609549" "00001400" "30" "7352" "0" "7352" "0" "c.7352C>A" "r.(?)" "p.(Ala2451Asp)" "" "0000609551" "00001400" "30" "8359" "0" "8359" "0" "c.8359A>T" "r.(?)" "p.(Thr2787Ser)" "" "0000621498" "00001400" "50" "7291" "0" "7291" "0" "c.7291G>C" "r.(?)" "p.(Asp2431His)" "" "0000631939" "00001400" "90" "651" "0" "652" "0" "c.651_652del" "r.(?)" "p.(Arg217Serfs*4)" "" "0000647142" "00001400" "70" "1996" "0" "1996" "0" "c.1996C>T" "r.(?)" "p.(Arg666*)" "" "0000647236" "00001400" "90" "3224" "0" "3224" "0" "c.3224C>T" "r.(?)" "p.(Thr1075Ile)" "" "0000647237" "00001400" "90" "3232" "0" "3232" "0" "c.3232C>T" "r.(?)" "p.(Arg1078Trp)" "" "0000647238" "00001400" "90" "3232" "0" "3232" "0" "c.3232C>T" "r.(?)" "p.(Arg1078Trp)" "" "0000647239" "00001400" "90" "3232" "0" "3232" "0" "c.3232C>T" "r.(?)" "p.(Arg1078Trp)" "" "0000647240" "00001400" "90" "3232" "0" "3232" "0" "c.3232C>T" "r.(?)" "p.(Arg1078Trp)" "" "0000647241" "00001400" "90" "3232" "0" "3232" "0" "c.3232C>G" "r.(?)" "p.(Arg1078Gly)" "" "0000647242" "00001400" "90" "3233" "0" "3233" "0" "c.3233G>A" "r.(?)" "p.(Arg1078Gln)" "" "0000647243" "00001400" "90" "3233" "0" "3233" "0" "c.3233G>A" "r.(?)" "p.(Arg1078Gln)" "" "0000647244" "00001400" "90" "3239" "0" "3239" "0" "c.3239A>T" "r.(?)" "p.(Asn1080Ile)" "" "0000647245" "00001400" "90" "3895" "0" "3895" "0" "c.3895G>A" "r.(?)" "p.(Glu1299Lys)" "" "0000647246" "00001400" "90" "4283" "0" "4283" "0" "c.4283G>A" "r.(?)" "p.(Arg1428Gln)" "" "0000647247" "00001400" "90" "4283" "0" "4283" "0" "c.4283G>A" "r.(?)" "p.(Arg1428Gln)" "" "0000647248" "00001400" "90" "4381" "0" "4381" "0" "c.4381C>A" "r.(?)" "p.(Pro1461Thr)" "" "0000647249" "00001400" "90" "4406" "0" "4406" "0" "c.4406A>G" "r.(?)" "p.(His1469Arg)" "" "0000647250" "00001400" "90" "4382" "0" "4382" "0" "c.4382C>T" "r.(?)" "p.(Pro1461Leu)" "" "0000647251" "00001400" "90" "4382" "0" "4382" "0" "c.4382C>T" "r.(?)" "p.(Pro1461Leu)" "" "0000647252" "00001400" "90" "4466" "0" "4466" "0" "c.4466del" "r.(?)" "p.(Gln1489Argfs*12)" "" "0000647253" "00001400" "90" "4466" "0" "4466" "0" "c.4466del" "r.(?)" "p.(Gln1489Argfs*12)" "" "0000647254" "00001400" "90" "4466" "0" "4466" "0" "c.4466del" "r.(?)" "p.(Gln1489Argfs*12)" "" "0000647255" "00001400" "90" "2302" "0" "2302" "0" "c.2302C>T" "r.(?)" "p.(Gln768*)" "" "0000647257" "00001400" "90" "4860" "-2" "4860" "-2" "c.4860-2A>G" "r.4859_4860ins[4860-51_4860-3;99]" "p.Arg1620delinsSDCQLSSIRN*" "32i" "0000647258" "00001400" "90" "6092" "0" "6092" "0" "c.6092dup" "r.(?)" "p.(Leu2031Phefs*9)" "" "0000647259" "00001400" "90" "7050" "0" "7050" "0" "c.7050del" "r.(?)" "p.(Val2351Cysfs*62)" "" "0000655311" "00001400" "30" "960" "0" "960" "0" "c.960G>A" "r.(?)" "p.(Ser320=)" "" "0000655313" "00001400" "70" "3232" "0" "3232" "0" "c.3232C>T" "r.(?)" "p.(Arg1078Trp)" "" "0000659588" "00001400" "70" "1857" "0" "1860" "0" "c.1857_1860dup" "r.(?)" "p.(Tyr621HisfsTer7)" "" "0000666142" "00001400" "90" "2414" "0" "2414" "0" "c.2414G>A" "r.(?)" "p.(Trp805*)" "" "0000677419" "00001400" "30" "41" "0" "41" "0" "c.41C>T" "r.(?)" "p.(Ser14Phe)" "" "0000677421" "00001400" "30" "2686" "0" "2686" "0" "c.2686G>A" "r.(?)" "p.(Ala896Thr)" "" "0000677422" "00001400" "30" "3571" "-4" "3571" "-4" "c.3571-4G>A" "r.spl?" "p.?" "" "0000677423" "00001400" "70" "4387" "0" "4387" "0" "c.4387C>T" "r.(?)" "p.(Arg1463Ter)" "" "0000677424" "00001400" "30" "4761" "0" "4761" "0" "c.4761C>T" "r.(?)" "p.(Arg1587=)" "" "0000677425" "00001400" "50" "6239" "0" "6239" "0" "c.6239T>C" "r.(?)" "p.(Phe2080Ser)" "" "0000689447" "00001400" "50" "7325" "0" "7325" "0" "c.7325G>A" "r.(?)" "p.(Gly2442Asp)" "" "0000689448" "00001400" "30" "8120" "0" "8120" "0" "c.8120G>A" "r.(?)" "p.(Arg2707Gln)" "" "0000689449" "00001400" "50" "8729" "0" "8729" "0" "c.8729G>A" "r.(?)" "p.(Arg2910Lys)" "" "0000704152" "00001400" "90" "1135" "0" "1135" "0" "c.1135G>T" "r.(?)" "p.(Glu379Ter)" "" "0000720233" "00001400" "30" "1302" "0" "1302" "0" "c.1302G>A" "r.(?)" "p.(Ala434=)" "" "0000720234" "00001400" "90" "1819" "0" "1819" "0" "c.1819C>T" "r.(?)" "p.(Gln607*)" "" "0000720235" "00001400" "50" "3233" "0" "3233" "0" "c.3233G>A" "r.(?)" "p.(Arg1078Gln)" "" "0000720236" "00001400" "50" "3268" "0" "3268" "0" "c.3268A>G" "r.(?)" "p.(Arg1090Gly)" "" "0000720237" "00001400" "90" "3420" "0" "3420" "0" "c.3420C>G" "r.(?)" "p.(Tyr1140Ter)" "" "0000720238" "00001400" "50" "6220" "0" "6220" "0" "c.6220G>C" "r.(?)" "p.(Glu2074Gln)" "" "0000720239" "00001400" "30" "7166" "0" "7166" "0" "c.7166C>T" "r.(?)" "p.(Ala2389Val)" "" "0000720240" "00001400" "30" "7632" "17" "7632" "17" "c.7632+17dup" "r.(=)" "p.(=)" "" "0000720241" "00001400" "50" "7810" "0" "7810" "0" "c.7810G>A" "r.(?)" "p.(Gly2604Ser)" "" "0000720242" "00001400" "30" "8253" "0" "8253" "0" "c.8253G>A" "r.(?)" "p.(Thr2751=)" "" "0000720243" "00001400" "30" "8274" "0" "8274" "0" "c.8274G>A" "r.(?)" "p.(Thr2758=)" "" "0000720244" "00001400" "30" "8751" "16" "8751" "16" "c.8751+16G>A" "r.(=)" "p.(=)" "" "0000801934" "00001400" "50" "2191" "0" "2191" "0" "c.2191G>A" "r.(?)" "p.(Gly731Arg)" "" "0000801935" "00001400" "50" "2608" "0" "2608" "0" "c.2608A>G" "r.(?)" "p.(Arg870Gly)" "" "0000801936" "00001400" "30" "2964" "0" "2964" "0" "c.2964C>T" "r.(?)" "p.(Cys988=)" "" "0000801937" "00001400" "50" "3149" "0" "3149" "0" "c.3149A>T" "r.(?)" "p.(Asn1050Ile)" "" "0000801938" "00001400" "70" "3232" "0" "3232" "0" "c.3232C>T" "r.(?)" "p.(Arg1078Trp)" "" "0000801939" "00001400" "30" "3639" "0" "3639" "0" "c.3639T>C" "r.(?)" "p.(His1213=)" "" "0000801940" "00001400" "50" "4375" "0" "4375" "0" "c.4375A>G" "r.(?)" "p.(Ser1459Gly)" "" "0000801941" "00001400" "70" "4394" "0" "4394" "0" "c.4394A>G" "r.(?)" "p.(Asn1465Ser)" "" "0000801942" "00001400" "50" "6227" "0" "6227" "0" "c.6227T>C" "r.(?)" "p.(Ile2076Thr)" "" "0000801943" "00001400" "70" "6902" "0" "6902" "0" "c.6902del" "r.(?)" "p.(Gly2301Alafs*112)" "" "0000801944" "00001400" "30" "6966" "0" "6966" "0" "c.6966C>T" "r.(?)" "p.(Gly2322=)" "" "0000801945" "00001400" "50" "8411" "5" "8411" "5" "c.8411+5G>T" "r.spl?" "p.?" "" "0000801946" "00001400" "30" "8831" "0" "8831" "0" "c.8831A>G" "r.(?)" "p.(Asn2944Ser)" "" "0000801947" "00001400" "50" "9020" "0" "9020" "0" "c.9020T>C" "r.(?)" "p.(Leu3007Ser)" "" "0000837048" "00001400" "70" "3232" "0" "3232" "0" "c.3232C>T" "r.(?)" "p.(Arg1078Trp)" "" "0000846445" "00001400" "70" "757" "0" "757" "0" "c.757dup" "r.(?)" "p.(Ala253Glyfs*17)" "4" "0000850812" "00001400" "30" "1626" "0" "1626" "0" "c.1626C>T" "r.(?)" "p.(His542=)" "" "0000850813" "00001400" "30" "2686" "0" "2686" "0" "c.2686G>A" "r.(?)" "p.(Ala896Thr)" "" "0000850814" "00001400" "30" "3332" "-8" "3332" "-8" "c.3332-8T>C" "r.(=)" "p.(=)" "" "0000850815" "00001400" "10" "3948" "27" "3948" "27" "c.3948+27del" "r.(=)" "p.(=)" "" "0000850816" "00001400" "30" "4726" "0" "4726" "0" "c.4726A>G" "r.(?)" "p.(Ile1576Val)" "" "0000850817" "00001400" "30" "7397" "0" "7397" "0" "c.7397C>T" "r.(?)" "p.(Pro2466Leu)" "" "0000850818" "00001400" "30" "7397" "0" "7397" "0" "c.7397C>T" "r.(?)" "p.(Pro2466Leu)" "" "0000850819" "00001400" "30" "9174" "0" "9174" "0" "c.9174G>T" "r.(?)" "p.(Thr3058=)" "" "0000859793" "00001400" "50" "1286" "0" "1286" "0" "c.1286A>G" "r.(?)" "p.(Glu429Gly)" "" "0000886653" "00001400" "70" "4085" "0" "4086" "0" "c.4085_4086del" "r.(?)" "p.(Tyr1362*)" "" "0000886654" "00001400" "50" "6872" "0" "6872" "0" "c.6872G>A" "r.(?)" "p.(Ser2291Asn)" "" "0000886655" "00001400" "50" "7060" "0" "7060" "0" "c.7060T>G" "r.(?)" "p.(Ser2354Ala)" "" "0000886656" "00001400" "50" "7789" "0" "7789" "0" "c.7789G>C" "r.(?)" "p.(Asp2597His)" "" "0000886657" "00001400" "30" "7864" "0" "7864" "0" "c.7864C>A" "r.(?)" "p.(Pro2622Thr)" "" "0000912248" "00001400" "30" "1146" "0" "1146" "0" "c.1146G>A" "r.(?)" "p.(Thr382=)" "" "0000912249" "00001400" "10" "3948" "27" "3948" "27" "c.3948+27del" "r.(=)" "p.(=)" "" "0000912250" "00001400" "70" "4103" "0" "4103" "0" "c.4103A>T" "r.(?)" "p.(Asp1368Val)" "" "0000912251" "00001400" "30" "5671" "0" "5671" "0" "c.5671T>C" "r.(?)" "p.(Ser1891Pro)" "" "0000912252" "00001400" "70" "7881" "-2" "7881" "-2" "c.7881-2A>G" "r.spl?" "p.?" "" "0000912253" "00001400" "70" "8647" "0" "8647" "0" "c.8647C>T" "r.(?)" "p.(Arg2883*)" "" "0000924266" "00001400" "50" "3032" "0" "3032" "0" "c.3032A>G" "r.(?)" "p.(Asn1011Ser)" "" "0000924267" "00001400" "30" "3149" "0" "3149" "0" "c.3149A>T" "r.(?)" "p.(Asn1050Ile)" "" "0000924268" "00001400" "50" "7424" "0" "7424" "0" "c.7424C>A" "r.(?)" "p.(Pro2475His)" "" "0000924269" "00001400" "70" "8651" "0" "8651" "0" "c.8651G>A" "r.(?)" "p.(Trp2884*)" "" "0000927956" "00001400" "70" "4267" "0" "4267" "0" "c.4267A>T" "r.(?)" "p.(Ile1423Phe)" "" "0000929029" "00001400" "70" "1354" "0" "1354" "0" "c.1354C>T" "r.(?)" "p.(Gln452*)" "" "0000929030" "00001400" "50" "1963" "0" "1963" "0" "c.1963C>T" "r.(?)" "p.(Arg655Trp)" "" "0000929032" "00001400" "50" "6500" "0" "6500" "0" "c.6500A>C" "r.(?)" "p.(Gln2167Pro)" "" "0000948501" "00001400" "50" "5912" "2" "5912" "5" "c.5912+2_5912+5del" "r.spl?" "p.?" "" "0000963494" "00001400" "50" "5465" "0" "5465" "0" "c.5465C>T" "r.(?)" "p.(Ala1822Val)" "" "0000963495" "00001400" "50" "5503" "0" "5503" "0" "c.5503C>T" "r.(?)" "p.(Arg1835Trp)" "" "0000963497" "00001400" "50" "7553" "0" "7553" "0" "c.7553C>A" "r.(?)" "p.(Ala2518Asp)" "" "0000976620" "00001400" "50" "157" "40373" "157" "40373" "c.157+40373C>T" "r.(=)" "p.(=)" "" "0000976623" "00001400" "30" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.(Arg100Gln)" "" "0000976624" "00001400" "30" "1176" "331" "1176" "331" "c.1176+331C>T" "r.(=)" "p.(=)" "" "0000976625" "00001400" "30" "2480" "0" "2480" "0" "c.2480G>A" "r.(?)" "p.(Arg827His)" "" "0000976626" "00001400" "50" "3991" "0" "3991" "0" "c.3991C>T" "r.(?)" "p.(Pro1331Ser)" "" "0000976627" "00001400" "30" "5433" "0" "5433" "0" "c.5433C>G" "r.(?)" "p.(Asp1811Glu)" "" "0000976628" "00001400" "50" "5636" "0" "5636" "0" "c.5636G>A" "r.(?)" "p.(Ser1879Asn)" "" "0000976629" "00001400" "30" "5913" "-500" "5913" "-500" "c.5913-500A>G" "r.(=)" "p.(=)" "" "0000976630" "00001400" "30" "6894" "0" "6899" "0" "c.6894_6899dup" "r.(?)" "p.(Ser2299_Gly2300dup)" "" "0000976631" "00001400" "30" "7405" "0" "7405" "0" "c.7405G>A" "r.(?)" "p.(Gly2469Ser)" "" "0000976632" "00001400" "50" "7555" "0" "7555" "0" "c.7555C>T" "r.(?)" "p.(Pro2519Ser)" "" "0000989919" "00001400" "70" "4381" "0" "4381" "0" "c.4381C>G" "r.(?)" "p.(Pro1461Ala)" "" "0000994721" "00001400" "30" "19" "0" "19" "0" "c.19G>A" "r.(?)" "p.(Gly7Arg)" "" "0000994722" "00001400" "30" "633" "0" "633" "0" "c.633A>C" "r.(?)" "p.(Glu211Asp)" "" "0000994723" "00001400" "50" "1646" "0" "1646" "0" "c.1646G>A" "r.(?)" "p.(Arg549Gln)" "" "0000994724" "00001400" "50" "2096" "0" "2096" "0" "c.2096A>G" "r.(?)" "p.(Tyr699Cys)" "" "0000994725" "00001400" "50" "2134" "0" "2134" "0" "c.2134C>T" "r.(?)" "p.(Arg712Cys)" "" "0000994726" "00001400" "50" "2144" "0" "2144" "0" "c.2144A>G" "r.(?)" "p.(Gln715Arg)" "" "0000994727" "00001400" "30" "2848" "0" "2848" "0" "c.2848C>T" "r.(?)" "p.(His950Tyr)" "" "0000994728" "00001400" "50" "3581" "0" "3581" "0" "c.3581A>G" "r.(?)" "p.(Glu1194Gly)" "" "0000994729" "00001400" "50" "3641" "0" "3641" "0" "c.3641C>T" "r.(?)" "p.(Ala1214Val)" "" "0000994730" "00001400" "50" "3976" "0" "3976" "0" "c.3976G>A" "r.(?)" "p.(Val1326Met)" "" "0000994731" "00001400" "50" "4018" "0" "4018" "0" "c.4018A>G" "r.(?)" "p.(Ile1340Val)" "" "0000994732" "00001400" "30" "4375" "0" "4375" "0" "c.4375A>G" "r.(?)" "p.(Ser1459Gly)" "" "0000994733" "00001400" "50" "5096" "0" "5096" "0" "c.5096G>A" "r.(?)" "p.(Arg1699Gln)" "" "0000994734" "00001400" "30" "5359" "0" "5359" "0" "c.5359G>T" "r.(?)" "p.(Gly1787Cys)" "" "0000994735" "00001400" "30" "5377" "0" "5377" "0" "c.5377G>T" "r.(?)" "p.(Val1793Leu)" "" "0000994736" "00001400" "30" "6766" "0" "6766" "0" "c.6766C>T" "r.(?)" "p.(Pro2256Ser)" "" "0000994737" "00001400" "50" "6824" "0" "6824" "0" "c.6824A>G" "r.(?)" "p.(Asn2275Ser)" "" "0000994738" "00001400" "50" "6835" "4" "6835" "4" "c.6835+4A>T" "r.spl?" "p.?" "" "0000994739" "00001400" "50" "6890" "0" "6890" "0" "c.6890G>A" "r.(?)" "p.(Gly2297Asp)" "" "0000994740" "00001400" "30" "6892" "0" "6894" "0" "c.6892_6894del" "r.(?)" "p.(Gly2298del)" "" "0000994741" "00001400" "50" "6933" "0" "6935" "0" "c.6933_6935dup" "r.(?)" "p.(Gly2312dup)" "" "0000994742" "00001400" "30" "6982" "0" "6982" "0" "c.6982G>A" "r.(?)" "p.(Gly2328Ser)" "" "0000994743" "00001400" "50" "7049" "0" "7049" "0" "c.7049C>A" "r.(?)" "p.(Pro2350His)" "" "0000994744" "00001400" "30" "7073" "0" "7073" "0" "c.7073C>G" "r.(?)" "p.(Ser2358Trp)" "" "0000994745" "00001400" "30" "7273" "0" "7273" "0" "c.7273G>A" "r.(?)" "p.(Ala2425Thr)" "" "0000994746" "00001400" "30" "7294" "0" "7294" "0" "c.7294G>A" "r.(?)" "p.(Ala2432Thr)" "" "0000994747" "00001400" "30" "7310" "0" "7310" "0" "c.7310C>T" "r.(?)" "p.(Ala2437Val)" "" "0000994748" "00001400" "30" "7334" "0" "7334" "0" "c.7334C>T" "r.(?)" "p.(Pro2445Leu)" "" "0000994749" "00001400" "50" "7463" "0" "7463" "0" "c.7463C>T" "r.(?)" "p.(Ser2488Phe)" "" "0000994750" "00001400" "30" "7553" "0" "7553" "0" "c.7553C>A" "r.(?)" "p.(Ala2518Asp)" "" "0000994751" "00001400" "50" "7648" "0" "7648" "0" "c.7648A>G" "r.(?)" "p.(Ser2550Gly)" "" "0000994752" "00001400" "30" "7966" "0" "7966" "0" "c.7966G>A" "r.(?)" "p.(Glu2656Lys)" "" "0000994753" "00001400" "50" "8027" "0" "8027" "0" "c.8027A>T" "r.(?)" "p.(Asn2676Ile)" "" "0000994754" "00001400" "30" "8120" "0" "8120" "0" "c.8120G>A" "r.(?)" "p.(Arg2707Gln)" "" "0000994755" "00001400" "50" "8131" "0" "8131" "0" "c.8131C>T" "r.(?)" "p.(Arg2711Cys)" "" "0000994756" "00001400" "30" "8279" "0" "8279" "0" "c.8279T>C" "r.(?)" "p.(Ile2760Thr)" "" "0000994757" "00001400" "30" "8359" "0" "8359" "0" "c.8359A>T" "r.(?)" "p.(Thr2787Ser)" "" "0000994758" "00001400" "50" "8834" "0" "8834" "0" "c.8834C>T" "r.(?)" "p.(Thr2945Met)" "" "0001007040" "00001400" "70" "5339" "0" "5339" "0" "c.5339C>T" "r.(?)" "p.(Pro1780Leu)" "35" "0001011147" "00001400" "70" "1568" "0" "1568" "0" "c.1568C>G" "r.(?)" "p.(Ser523Cys)" "" "0001014089" "00001400" "50" "7711" "0" "7711" "0" "c.7711A>T" "r.(?)" "p.(Asn2571Tyr)" "" "0001014090" "00001400" "50" "8689" "0" "8689" "0" "c.8689G>T" "r.(?)" "p.(Gly2897Trp)" "" "0001014091" "00001400" "30" "9157" "0" "9157" "0" "c.9157G>A" "r.(?)" "p.(Gly3053Ser)" "" "0001029858" "00001400" "70" "3217" "-1" "3217" "-1" "c.3217-1G>C" "r.spl?" "p.?" "i18" "0001030195" "00001400" "70" "7359" "0" "7359" "0" "c.7359del" "r.(?)" "p.(Ala2454Leufs*4)" "48" "0001030934" "00001400" "70" "3578" "0" "3581" "0" "c.3578_3581del" "r.(?)" "p.(Lys1193Argfs*3)" "22" "0001034961" "00001400" "30" "158" "-48864" "158" "-48864" "c.158-48864G>A" "r.(=)" "p.(=)" "" "0001034962" "00001400" "30" "347" "188" "347" "188" "c.347+188C>T" "r.(=)" "p.(=)" "" "0001034963" "00001400" "30" "540" "1377" "540" "1377" "c.540+1377G>A" "r.(=)" "p.(=)" "" "0001034964" "00001400" "30" "1368" "9" "1368" "9" "c.1368+9C>T" "r.(=)" "p.(=)" "" "0001034965" "00001400" "30" "1501" "-3" "1501" "-3" "c.1501-3C>T" "r.spl?" "p.?" "" "0001034966" "00001400" "30" "2047" "-314" "2047" "-314" "c.2047-314C>T" "r.(=)" "p.(=)" "" "0001034967" "00001400" "30" "2796" "0" "2796" "0" "c.2796C>T" "r.(?)" "p.(=)" "" "0001034968" "00001400" "30" "2875" "-10" "2875" "-9" "c.2875-10_2875-9del" "r.(=)" "p.(=)" "" "0001034969" "00001400" "30" "3131" "0" "3131" "0" "c.3131C>T" "r.(?)" "p.(Ala1044Val)" "" "0001034970" "00001400" "50" "3687" "0" "3687" "0" "c.3687A>C" "r.(?)" "p.(Arg1229Ser)" "" "0001034971" "00001400" "30" "4058" "114" "4058" "114" "c.4058+114A>C" "r.(=)" "p.(=)" "" "0001034972" "00001400" "50" "4973" "0" "4973" "0" "c.4973G>C" "r.(?)" "p.(Cys1658Ser)" "" "0001034973" "00001400" "30" "6507" "0" "6507" "0" "c.6507A>G" "r.(?)" "p.(=)" "" "0001034974" "00001400" "50" "6533" "0" "6533" "0" "c.6533G>T" "r.(?)" "p.(Gly2178Val)" "" "0001034975" "00001400" "30" "7039" "0" "7039" "0" "c.7039C>T" "r.(?)" "p.(His2347Tyr)" "" "0001034976" "00001400" "30" "7309" "0" "7309" "0" "c.7309G>A" "r.(?)" "p.(Ala2437Thr)" "" "0001034977" "00001400" "50" "7313" "0" "7313" "0" "c.7313G>A" "r.(?)" "p.(Arg2438His)" "" "0001034978" "00001400" "10" "7490" "0" "7490" "0" "c.7490C>T" "r.(?)" "p.(Pro2497Leu)" "" "0001034979" "00001400" "30" "7632" "9" "7632" "9" "c.7632+9G>A" "r.(=)" "p.(=)" "" "0001034980" "00001400" "50" "7978" "0" "7978" "0" "c.7978C>T" "r.(?)" "p.(Arg2660Trp)" "" "0001034981" "00001400" "30" "8062" "0" "8062" "0" "c.8062G>A" "r.(?)" "p.(Val2688Ile)" "" "0001034982" "00001400" "50" "8291" "0" "8291" "0" "c.8291A>C" "r.(?)" "p.(Asp2764Ala)" "" "0001034983" "00001400" "50" "10256" "0" "10257" "0" "c.*962_*963insAG" "r.(=)" "p.(=)" "" "0001034984" "00001400" "50" "10572" "0" "10572" "0" "c.*1278G>A" "r.(=)" "p.(=)" "" "0001047182" "00001400" "50" "6442" "0" "6442" "0" "c.6442G>C" "r.(?)" "p.(Val2148Leu)" "" "0001047561" "00001400" "70" "122" "0" "122" "0" "c.122del" "r.(?)" "p.(Lys41ArgfsTer20)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 51 "{{screeningid}}" "{{variantid}}" "0000000024" "0000000124" "0000000210" "0000012100" "0000024232" "0000046790" "0000050480" "0000079460" "0000050510" "0000079490" "0000050576" "0000079690" "0000144057" "0000234496" "0000145380" "0000236493" "0000184008" "0000407979" "0000208937" "0000438973" "0000230749" "0000472369" "0000240104" "0000484102" "0000277195" "0000631939" "0000290473" "0000647142" "0000290551" "0000647236" "0000290552" "0000647237" "0000290553" "0000647238" "0000290554" "0000647239" "0000290555" "0000647240" "0000290556" "0000647241" "0000290557" "0000647242" "0000290558" "0000647243" "0000290559" "0000647244" "0000290560" "0000647245" "0000290561" "0000647246" "0000290562" "0000647247" "0000290563" "0000647248" "0000290564" "0000647249" "0000290565" "0000647250" "0000290566" "0000647251" "0000290567" "0000647252" "0000290568" "0000647253" "0000290569" "0000647254" "0000290570" "0000647255" "0000290571" "0000647257" "0000290572" "0000647258" "0000290573" "0000647259" "0000290574" "0000000124" "0000296935" "0000659588" "0000302788" "0000666142" "0000321323" "0000704152" "0000399779" "0000000124" "0000402811" "0000837048" "0000409305" "0000846445" "0000436808" "0000927956" "0000454699" "0001011147" "0000455062" "0001007040" "0000466043" "0001029858" "0000466273" "0001030195" "0000466896" "0001030934" "0000467840" "0001047182"