### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TAF4) # 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}}" "TAF4" "TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa" "20" "q13.33" "unknown" "NC_000020.10" "UD_132464898039" "" "https://www.LOVD.nl/TAF4" "" "1" "11537" "6874" "601796" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2022-07-21 09:12:56" "00000" "2026-04-17 12:03:03" ## 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}}" "00001199" "TAF4" "TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa" "001" "NM_003185.3" "" "NP_003176.2" "" "" "" "1" "4628" "3258" "60549854" "60640866" "00000" "2012-09-13 13:18:34" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00413611" "" "" "" "1" "" "04353" "{PMID:Janssen 2022:35904126}, {DOI:Janssen 2022:10.1002/humu.24444}" "2 generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Proband 1" "00413612" "" "" "" "1" "" "04353" "{PMID:Janssen 2022:35904126}, {DOI:Janssen 2022:10.1002/humu.24444}" "2 generation family, 1 affected, unaffected non carrier parents" "F" "" "Poland" "" "0" "" "" "" "Proband 2" "00413614" "" "" "" "1" "" "04353" "{PMID:Janssen 2022:35904126}, {DOI:Janssen 2022:10.1002/humu.24444}" "2 generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Proband 3" "00413615" "" "" "" "1" "" "04353" "{PMID:Janssen 2022:35904126}, {DOI:Janssen 2022:10.1002/humu.24444}" "2 generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Proband 4" "00413616" "" "" "" "1" "" "04353" "{PMID:Janssen 2022:35904126}, {DOI:Janssen 2022:10.1002/humu.24444}" "2 generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Proband 5" "00413617" "" "" "" "1" "" "04353" "{PMID:Janssen 2022:35904126}, {DOI:Janssen 2022:10.1002/humu.24444}" "2 generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Proband 6" "00413618" "" "" "" "1" "" "04353" "{PMID:Janssen 2022:35904126}, {DOI:Janssen 2022:10.1002/humu.24444}" "2 generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "Proband 7" "00413619" "" "" "" "1" "" "04353" "{PMID:Janssen 2022:35904126}, {DOI:Janssen 2022:10.1002/humu.24444}" "2 generation family, 1 affected, unaffected non carrier parents" "F" "" "" "" "0" "" "" "" "Proband 8" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00413611" "00198" "00413612" "00198" "00413614" "00198" "00413615" "00198" "00413616" "00198" "00413617" "00198" "00413618" "00198" "00413619" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157 ## Count = 9 "{{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}}" "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" "" "" "" "" "" "" "" "" "" "0000306582" "00198" "00413611" "00006" "Isolated (sporadic)" "14y" "see paper; ..., birth 38/40w; no perinatal complications ; weight 63.5 kg (75th centile), height 173.4 cm (75th centile), OFC 55.5 cm (75th centile); mild/moderate intellectual disability; attended mainstrem school, 16y-sat exams; mild/moderate atism ; very shy; no delayed language development ; no seizures/epilepsy; prominent nasal bridge, convex nose; tounge tie; prominent philtrum; prominent, long palpebral fissures; large, anteverted ears; upswept eyebrows ; small chin; bilateral single palamar creases ; aortic dilatation; dilated ureters; undescened testes, hypermetropia; laxity large and small joints; normal spine; tight tendon achilles" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000306583" "00198" "00413612" "00006" "Isolated (sporadic)" "09y09m" "see paper; ..., birth 42w, weight 3150 gr (-0.63 SD), OFC 35 cm (+0.83 SD); no perinatal complications ; weight 25.3kg (-1.33 SD), height 129.9cm (-1.16SD), OFC 50cm (-2.9SD); microcephaly; no intellectual disability; attends mainstream school with no extra help, at/ just below average performance; minor speech difficulties, good with numbers; no autism; 10m-sit; 14m-walk; 2y6m-speech \'mamma\' and \'dadda\', initially delayed language development, 2y6m-4 words, now speech and language norml, speaks both Polish and English well, only minor grammar errors ; no seizures/epilepsy; MRI X2 (5y and 6y9m) mild superior cerebellar vermis atrophy, and inferior vermian hypoplasia, stable over 2 scans; walks on tiptoes, spasticity in legs, botox to hip adductors and flexors, tight L hamstring now; prominent nose, high nasal bridge, not beaked, alae normal; full lips; short philtrum ; normal eyes/palpebral fissures; ears not dysplastic; synophrys, mildly arched eyebrows; normal chin/jaws; Prominent midface; clinodactyly bilateral 5th digit of hands, but father has the same, right foot 3-4 toe clinodactyly; no cardiac anomalies, echo normal; no kidney anomalies; no joint laxity, mild flexion contractures at knees; 9y6m-lumbar hyperlordosis, mild thoracolumbar scoliosis (Cobb angle 14 degrees); external tibial torsion of right leg" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000306584" "00198" "00413614" "00006" "Isolated (sporadic)" "08y" "see paper; ..., birth 40+4w, weight 3025 gr (-1.0 SD), length 49 cm (-1.0 SD), OFC 33 cm (-1.5 SD); no perinatal complications ; weight 22 kg (-1,16 SD), height 124 (-1.0 SD), OFC 50 cm (-0,91 SD); intellectual disability; TIQ 66 (60-77), VIQ 74 (67-87), PIQ 63 (57-77); no autism; very shy, sometimes staring ; 1y-sit; 2y2m-walk; 18m-speech first words, delayed language development, no verbral apraxia, no speech therapy necessary ; no seizures/epilepsy; EEG delta paroxysmen - not epileptiform, posteriorly slow rhythm; MRI prominente sulci cerebellum and 4th ventricle; long nose, high nasal bridge, slightly beaked, underdeveloped alae nasi; overbite, sligntly full lower vermillion ; short philtrum; normal eyes/palpebral fissures; ears not dysplastic; arched eyebrows; relative retrognathia ; prominent midface; clinodactyly dig 3-5 feet; no cardiac anomalies; joint laxity elbows; hyperlordosis; premature adrenarche, drooling" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000306585" "00198" "00413615" "00006" "Isolated (sporadic)" "03y" "see paper; ..., birth 42w, weight 2940 gr (9th centile), length 51 cm (99th centile), OFC 34 cm (25th centile); no perinatal complications ; weight 20 kg (0 SD), height 113 cm (+0.5 SD), OFC 51.1 cm (0 SD); normal growth; 6y5m-WPPSI-IV intellectually slightly delayed, cognitive profile uneven; attends kindergarten with special program, school 1y later than normal; autistic features, not enough for diagnosis; can be agressive; 7m-sit; 13m-walk; 12m-speech first words, 3y-50 words and few two-word sentences, 5y-around 100 words and does not understand more complex sentences; no seizures/epilepsy; 5y5m-MRI brain no organic pathology; sometimes stumbles and can fall, hand coordination weak; small upturned nose with wide nose tip, rather wide and prominent nasal bridge; higher palate; rather long/deep philtrum; deep set eyes, a little widely spaced and upslanted, bilateral epiblepharon; peculiar ears, bigger than normal, posteriorly rotated; rather thick and a little arched eyebrows, rather straight forehead; normal chin/jaws; nothing specific; hypermetrophy; overall mild joint hypermobility; normal spine; when walking drags her feet, when walking then the right foot is turned a little inwards; 3 cafe au lait spots" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000306586" "00198" "00413616" "00006" "Isolated (sporadic)" "02y" "see paper; .., birth 40w, weight 2750 gr; weight 10.75 kg (9-25th centile), height 82.9cm ((9-25th centile), OFC 46.7cm (27th centile); normal growth; intellectual disability; very quiet as baby, did not cry; expressive and receptive speech delay ; 8m-febrile seizures (x5), one non-febrile seizure; EEG no epileptiform abnormalities; low nasal bridge, short columella; flat philtrum ; short, slightly upslanting palpebral fissures, synophrys; normal ears; arched eyebrows; normal chin/jaws; Hairy back as a baby; severe constipation; no joint laxity; normal spine; susceptible to colds, feeding difficulties in infancy, gagged on liquids and foods" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000306587" "00198" "00413617" "00006" "Isolated (sporadic)" "16y" "see paper; ..., birth 40w, weight 3470 gr (50th percentile); no perinatal complications ; weight 36.2 kg ( -0.5 SD), height 156 cm ( +0.2 SD), OFC 54.3 ( -0.5 SD); normal growth; severe intellectual disability, 9m-smiling; BSID-ll N 48m-developmental age 15m; speech words, 12y-2-3 word sentencs; autistic features; PICA, automutilation, sleeping disorder and self hugging; 18m-sit; 3y-walk; speech delayed, 12y-2-3 word sentences; febrile seizure 1x; EEG no epilepsy; 2y-MRI no abnomalities; toe walking, handflapping; low and wide nasal bridge, upturned nasal tip; spacing teeth, protruding lower lip, carpe shaped mouth; prominent philtrum ; normal eyes/palpebral fissures; ears dysplastic helix l>r; thick eyebrows; normal chin/jaws; flat feet; no cardiac anomalies; no kidney anomalies; flat feet, no generalised laxity; normal spine" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000306588" "00198" "00413618" "00006" "Isolated (sporadic)" "18y" "see paper; ..., birth 40+11w, weight 3500 gr (-0.83 SD/20th percentile), length 50 cm (-1.06 SD/14th percentile), OFC 36 cm (-0.64 SD/26th percentile); no perinatal complications ; weight 50.3 kg (11th centile), height 185.6 (95th centile), OFC 54.5 cm (25th-50th centile); tall, very slender, long arm span; moderate intellectual disability; 16y-WISC-V FSIQ 46-58, verbal Comprehension 57-73, visual Spatial 59-75, fluid Reasoning 54-58, working Memory 42-55, processing Speed 53-72; no autism; shy, compliant; 15m-sit; 2y-walk; <12m-speech first words, moderate receptive speech delay, severe expressive delay, severe ongoing dyspraxia, required long-term speech therapy, speaks in sentences but can be hard to understand; no seizures/epilepsy; 9y-CT head demonstrated small, dysplastic ossicular chains bilaterally; described as stiff, with increased extensor tone as a baby, later hypotonic; long nose, convex profile, high nasal bridge, had surgery for deviated nasal septum in teens; cleft soft palate, 1/3 hard palate repaired age 7m, mild oligodontia upper and lower dentition, thin upper lip; wide philtrum; narrow palpebral fissures vertically (not short); ears mildly overfolded r upper helix;recurrent otitis media as baby, had tympanoplasty on l, severe high frequency conductive hearing loss on l, mild on r, CT showed bilateral hypoplasia ossicular chains; mildly arched eyebrows; mild retrognathia; Inguinal hernia repaired age 3 months; prominent interphalangeal joints, mild flexion contractures fingers, moderate 2-3 syndactyly toes, mother has unilateral 2-3 syndactyly; 18y-aortic root upper limit normal, echocardiogram otherwise normal; normal renal ultrasound; in childhood mildly hypermobile, not now, mild flexion limitation at elbows; kyphosis, mild scoliosis, narrow thorax, no vertebral anomalies on X-ray; prominent elbows, limited elbow extension, prominent sternal head pectoralis major, anterior axillary webbing; feeding diiculties and drooling in infancy, severe constipation until over 15 months, then resolved, multiple pigmented naevi" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000306589" "00198" "00413619" "00006" "Isolated (sporadic)" "12y" "see paper; ..., birth at term, weight 25th percentile, length 10-25th percentile; weight 22.6 kg, height 127 cm, OFC normocephalic; short stature; intellectual disability; delayed language development ; no seizures/epilepsy; downward slanting palpebral fissures; ears small, low set, posteriorly rotated; normal hand/feet; delayed bone age; wide intermammillary distance" "" "" "" "" "" "" "" "" "" "developmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000414890" "00413611" "1" "04353" "04353" "2022-07-20 13:59:21" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000414891" "00413612" "1" "04353" "04353" "2022-07-20 14:07:36" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000414893" "00413614" "1" "04353" "04353" "2022-07-20 14:10:07" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000414894" "00413615" "1" "04353" "04353" "2022-07-20 14:21:35" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000414895" "00413616" "1" "04353" "04353" "2022-07-20 14:29:04" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000414896" "00413617" "1" "04353" "04353" "2022-07-20 14:31:07" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000414897" "00413618" "1" "04353" "04353" "2022-07-20 14:33:05" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000414898" "00413619" "1" "04353" "04353" "2022-07-20 14:35:07" "" "" "SEQ-NG-I" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 31 "{{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}}" "0000013924" "3" "50" "20" "60565596" "60565596" "subst" "0" "00037" "TAF4_000001" "g.60565596G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.61990540G>A" "" "VUS" "" "0000872611" "0" "70" "20" "60639519" "60639519" "subst" "0" "04353" "TAF4_000003" "g.60639519G>A" "" "{PMID:Janssen 2022:35904126}, {DOI:Janssen 2022:10.1002/humu.24444}" "" "" "" "De novo" "" "" "0" "" "" "g.62064463G>A" "" "pathogenic (dominant)" "ACMG" "0000872612" "0" "70" "20" "60581760" "60581760" "subst" "0" "04353" "TAF4_000004" "g.60581760G>A" "" "{PMID:Janssen 2022:35904126}, {DOI:Janssen 2022:10.1002/humu.24444}" "" "" "" "De novo" "" "" "0" "" "" "g.62006704G>A" "" "pathogenic (dominant)" "ACMG" "0000872614" "0" "70" "20" "60581604" "60581604" "subst" "0" "04353" "TAF4_000005" "g.60581604G>A" "" "{PMID:Janssen 2022:35904126}, {DOI:Janssen 2022:10.1002/humu.24444}" "" "" "" "De novo" "" "" "0" "" "" "g.62006548G>A" "" "pathogenic (dominant)" "ACMG" "0000872615" "0" "70" "20" "60578253" "60578253" "dup" "0" "04353" "TAF4_000006" "g.60578253dup" "" "{PMID:Janssen 2022:35904126}, {DOI:Janssen 2022:10.1002/humu.24444}" "" "" "" "De novo" "" "" "0" "" "" "g.62003197dup" "" "pathogenic (dominant)" "ACMG" "0000872616" "0" "70" "20" "60575695" "60575696" "del" "0" "04353" "TAF4_000007" "g.60575695_60575696del" "" "{PMID:Janssen 2022:35904126}, {DOI:Janssen 2022:10.1002/humu.24444}" "" "" "" "De novo" "" "" "0" "" "" "g.62000639_62000640del" "" "pathogenic (dominant)" "ACMG" "0000872617" "0" "70" "20" "60575308" "60575308" "del" "0" "04353" "TAF4_000008" "g.60575308del" "" "{PMID:Janssen 2022:35904126}, {DOI:Janssen 2022:10.1002/humu.24444}" "" "" "" "De novo" "" "" "0" "" "" "g.62000252del" "" "pathogenic (dominant)" "ACMG" "0000872618" "0" "70" "20" "60551385" "60551386" "ins" "0" "04353" "TAF4_000009" "g.60551385_60551386insGTCG" "" "{PMID:Janssen 2022:35904126}, {DOI:Janssen 2022:10.1002/humu.24444}" "" "" "" "De novo" "" "" "0" "" "" "g.61976329_61976330insGTCG" "" "pathogenic (dominant)" "ACMG" "0000872619" "0" "70" "20" "60551382" "60551383" "del" "0" "04353" "TAF4_000010" "g.60551382_60551383del" "" "{PMID:Janssen 2022:35904126}, {DOI:Janssen 2022:10.1002/humu.24444}" "" "" "" "De novo" "" "" "0" "" "" "g.61976326_61976327del" "" "pathogenic (dominant)" "ACMG" "0000951463" "0" "50" "20" "60572631" "60572631" "subst" "4.07777E-6" "02325" "TAF4_000011" "g.60572631C>G" "" "" "" "TAF4(NM_003185.4):c.3065G>C (p.C1022S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983875" "0" "30" "20" "60581557" "60581557" "subst" "0" "01804" "TAF4_000012" "g.60581557C>A" "" "" "" "TAF4(NM_003185.4):c.2223+9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005510" "0" "50" "20" "60578322" "60578322" "subst" "1.62438E-5" "01804" "TAF4_000013" "g.60578322C>T" "" "" "" "TAF4(NM_003185.3):c.2380G>A (p.(Val794Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005511" "0" "50" "20" "60578849" "60578851" "dup" "0" "01804" "TAF4_000014" "g.60578849_60578851dup" "" "" "" "TAF4(NM_003185.3):c.2309_2311dupAGC (p.(Gln770dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005512" "0" "70" "20" "60639519" "60639519" "subst" "0" "02327" "TAF4_000003" "g.60639519G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001005513" "0" "30" "20" "60639758" "60639758" "subst" "0" "01804" "TAF4_000015" "g.60639758G>C" "" "" "" "TAF4(NM_003185.3):c.1109C>G (p.(Ala370Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005514" "0" "30" "20" "60639818" "60639818" "subst" "0" "01804" "TAF4_000016" "g.60639818A>T" "" "" "" "TAF4(NM_003185.3):c.1049T>A (p.(Val350Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015878" "0" "50" "20" "60639689" "60639689" "del" "0" "02325" "TAF4_000017" "g.60639689del" "" "" "" "TAF4(NM_003185.4):c.1182delC (p.T396Pfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043464" "0" "50" "20" "60578853" "60578853" "subst" "0" "01804" "TAF4_000018" "g.60578853G>A" "" "" "" "TAF4(NM_003185.4):c.2305C>T (p.(Arg769Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043465" "0" "30" "20" "60639800" "60639811" "del" "0" "01804" "TAF4_000019" "g.60639800_60639811del" "" "" "" "TAF4(NM_003185.4):c.1064_1075del (p.(Pro355_Ala358del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056943" "0" "30" "20" "60589596" "60589596" "subst" "0" "01804" "TAF4_000020" "g.60589596C>A" "" "" "" "TAF4(NM_003185.4):c.1521+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056944" "0" "30" "20" "60639732" "60639732" "subst" "0" "01804" "TAF4_000021" "g.60639732T>C" "" "" "" "TAF4(NM_003185.4):c.1135A>G (p.(Met379Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056945" "0" "30" "20" "60639860" "60639860" "subst" "0" "01804" "TAF4_000022" "g.60639860G>T" "" "" "" "TAF4(NM_003185.4):c.1007C>A (p.(Ala336Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056946" "0" "50" "20" "60640173" "60640173" "subst" "0" "01804" "TAF4_000023" "g.60640173C>T" "" "" "" "TAF4(NM_003185.4):c.694G>A (p.(Ala232Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067361" "0" "50" "20" "60572701" "60572701" "subst" "0" "02325" "TAF4_000024" "g.60572701T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067362" "0" "30" "20" "60585189" "60585189" "subst" "8.14233E-6" "02325" "TAF4_000025" "g.60585189C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001067363" "0" "50" "20" "60587896" "60587896" "subst" "0" "02325" "TAF4_000026" "g.60587896G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067364" "0" "50" "20" "60639722" "60639722" "subst" "0" "01804" "TAF4_000027" "g.60639722G>A" "" "" "" "TAF4(NM_003185.4):c.1145C>T (p.(Ala382Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067365" "0" "50" "20" "60639817" "60639817" "del" "0" "01804" "TAF4_000028" "g.60639817del" "" "" "" "TAF4(NM_003185.4):c.1051del (p.(Val351Cysfs*58))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067366" "0" "30" "20" "60640342" "60640353" "del" "0" "02325" "TAF4_000029" "g.60640342_60640353del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001067367" "0" "50" "20" "60640866" "60640866" "subst" "0" "02325" "TAF4_000030" "g.60640866T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001074028" "0" "50" "20" "60640865" "60640887" "del" "0" "03779" "TAF4_000031" "g.60640865_60640887del" "" "" "" "" "" "Unknown" "" "rs2516042500" "0" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TAF4 ## Count = 31 "{{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}}" "0000013924" "00001199" "50" "3090" "7010" "3090" "7010" "c.3090+7010C>T" "r.(=)" "p.(=)" "" "0000872611" "00001199" "70" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Gln450*)" "" "0000872612" "00001199" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Gln677*)" "" "0000872614" "00001199" "70" "2185" "0" "2185" "0" "c.2185C>T" "r.(?)" "p.(Gln729*)" "" "0000872615" "00001199" "70" "2453" "0" "2453" "0" "c.2453dup" "r.(?)" "p.(Asn818Lysfs*2)" "" "0000872616" "00001199" "70" "2570" "0" "2571" "0" "c.2570_2571del" "r.(?)" "p.(Ser857*)" "" "0000872617" "00001199" "70" "2664" "0" "2664" "0" "c.2664del" "r.(?)" "p.(Lys888Asnfs*4)" "" "0000872618" "00001199" "70" "3096" "0" "3097" "0" "c.3096_3097insCGAC" "r.(?)" "p.(Gly1033Argfs*39)" "" "0000872619" "00001199" "70" "3101" "0" "3102" "0" "c.3101_3102del" "r.(?)" "p.(Pro1034Argfs*36)" "" "0000951463" "00001199" "50" "3065" "0" "3065" "0" "c.3065G>C" "r.(?)" "p.(Cys1022Ser)" "" "0000983875" "00001199" "30" "2223" "9" "2223" "9" "c.2223+9G>T" "r.(=)" "p.(=)" "" "0001005510" "00001199" "50" "2380" "0" "2380" "0" "c.2380G>A" "r.(?)" "p.(Val794Met)" "" "0001005511" "00001199" "50" "2309" "0" "2311" "0" "c.2309_2311dup" "r.(?)" "p.(Gln770dup)" "" "0001005512" "00001199" "70" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Gln450*)" "" "0001005513" "00001199" "30" "1109" "0" "1109" "0" "c.1109C>G" "r.(?)" "p.(Ala370Gly)" "" "0001005514" "00001199" "30" "1049" "0" "1049" "0" "c.1049T>A" "r.(?)" "p.(Val350Glu)" "" "0001015878" "00001199" "50" "1182" "0" "1182" "0" "c.1182del" "r.(?)" "p.(Thr396Profs*13)" "" "0001043464" "00001199" "50" "2305" "0" "2305" "0" "c.2305C>T" "r.(?)" "p.(Arg769Trp)" "" "0001043465" "00001199" "30" "1064" "0" "1075" "0" "c.1064_1075del" "r.(?)" "p.(Pro355_Ala358del)" "" "0001056943" "00001199" "30" "1521" "7" "1521" "7" "c.1521+7G>T" "r.(=)" "p.(=)" "" "0001056944" "00001199" "30" "1135" "0" "1135" "0" "c.1135A>G" "r.(?)" "p.(Met379Val)" "" "0001056945" "00001199" "30" "1007" "0" "1007" "0" "c.1007C>A" "r.(?)" "p.(Ala336Glu)" "" "0001056946" "00001199" "50" "694" "0" "694" "0" "c.694G>A" "r.(?)" "p.(Ala232Thr)" "" "0001067361" "00001199" "50" "2995" "0" "2995" "0" "c.2995A>T" "r.(?)" "p.(Met999Leu)" "" "0001067362" "00001199" "30" "1674" "0" "1674" "0" "c.1674G>A" "r.(?)" "p.(=)" "" "0001067363" "00001199" "50" "1616" "0" "1616" "0" "c.1616C>T" "r.(?)" "p.(Thr539Ile)" "" "0001067364" "00001199" "50" "1145" "0" "1145" "0" "c.1145C>T" "r.(?)" "p.(Ala382Val)" "" "0001067365" "00001199" "50" "1051" "0" "1051" "0" "c.1051del" "r.(?)" "p.(Val351Cysfs*58)" "" "0001067366" "00001199" "30" "525" "0" "536" "0" "c.525_536del" "r.(?)" "p.(Pro184_Gly187del)" "" "0001067367" "00001199" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.?" "" "0001074028" "00001199" "50" "-13" "0" "10" "0" "c.-13_10del" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000000210" "0000013924" "0000414890" "0000872611" "0000414891" "0000872612" "0000414893" "0000872614" "0000414894" "0000872615" "0000414895" "0000872616" "0000414896" "0000872617" "0000414897" "0000872618" "0000414898" "0000872619"