### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BRPF1) # 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}}" "BRPF1" "bromodomain and PHD finger containing, 1" "3" "p26-p25" "unknown" "NG_052955.1" "UD_132438212247" "" "https://www.LOVD.nl/BRPF1" "" "1" "14255" "7862" "602410" "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/BRPF1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-01-26 17:13:03" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00003502" "BRPF1" "transcript variant 1" "001" "NM_001003694.1" "" "NP_001003694.1" "" "" "" "-399" "4329" "3663" "9773434" "9789699" "" "0000-00-00 00:00:00" "" "" ## 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" "06574" "IDDDFP" "Intellectual developmental disorder with dysmorphic facies and ptosis" "AD" "617333" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "BRPF1" "06574" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00151814" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00287095" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00302893" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00447893" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "282708" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00151814" "00198" "00287095" "00198" "00302893" "00198" "00447893" "06574" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 06574 ## Count = 4 "{{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}}" "0000124183" "00198" "00151814" "01807" "Unknown" "" "HP:0000288 (Abnormality of the philtrum)" "" "" "" "" "" "" "" "" "" "" "" "0000220831" "00198" "00287095" "01807" "Unknown" "" "Microcephaly (HP:0000252); Feeding difficulties (HP:0011968); Hypospadias (HP:0000047); Long philtrum (HP:0000343); Ptosis (HP:0000508); Hypertelorism (HP:0000316); Failure to thrive (HP:0001508)" "" "" "" "" "" "" "" "" "" "" "" "0000229970" "00198" "00302893" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Strabismus (HP:0000486); Abnormal facial shape (HP:0001999); Hypertelorism (HP:0000316); Synophrys (HP:0000664); Hypertrichosis (HP:0000998); Delayed speech and language development (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000337085" "06574" "00447893" "01164" "Familial, autosomal dominant" "02y" "Neurodevelopmental delay, Hypertelorism, Low-set ears, Wide nasal bridge, Intellectual disability" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000152671" "00151814" "0" "01807" "01807" "2018-01-24 21:42:33" "" "" "SEQ" "DNA" "" "" "0000288260" "00287095" "1" "01807" "01807" "2020-02-12 11:23:46" "" "" "SEQ" "DNA" "" "" "0000304018" "00302893" "1" "01807" "01807" "2020-06-03 15:10:01" "" "" "SEQ" "DNA" "" "" "0000449464" "00447893" "1" "01164" "01164" "2024-01-31 14:57:17" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000449464" "BRPF1" ## 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 = 51 "{{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}}" "0000268006" "0" "50" "3" "9786079" "9786079" "subst" "1.71296E-5" "02329" "BRPF1_000004" "g.9786079C>T" "" "" "" "BRPF1(NM_001003694.1):c.2807C>T (p.P936L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9744395C>T" "" "VUS" "" "0000272160" "0" "70" "3" "9786753" "9786753" "subst" "0" "01943" "BRPF1_000005" "g.9786753C>G" "" "" "" "BRPF1(NM_001003694.1):c.2982C>G (p.Y994*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9745069C>G" "" "likely pathogenic" "" "0000298757" "0" "30" "3" "9791985" "9791985" "subst" "1.22601E-5" "02329" "OGG1_000018" "g.9791985G>T" "" "" "" "OGG1(NM_016821.3):c.15G>T (p.A5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9750301G>T" "" "likely benign" "" "0000298758" "0" "30" "3" "9792781" "9792781" "subst" "0" "02329" "OGG1_000019" "g.9792781G>A" "" "" "" "OGG1(NM_016821.3):c.290G>A (p.R97H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9751097G>A" "" "likely benign" "" "0000298759" "0" "50" "3" "9793529" "9793529" "subst" "0.000328907" "02329" "OGG1_000012" "g.9793529G>A" "" "" "" "OGG1(NM_016821.3):c.461G>A (p.R154H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9751845G>A" "" "VUS" "" "0000329222" "0" "50" "3" "9782525" "9782529" "dup" "0" "01804" "BRPF1_000001" "g.9782525_9782529dup" "" "" "" "BRPF1(NM_001003694.1):c.1619_1620insGCACA (p.(Tyr543ThrfsTer6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9740841_9740845dup" "" "VUS" "" "0000329223" "0" "50" "3" "9782591" "9782592" "del" "0" "01804" "BRPF1_000002" "g.9782591_9782592del" "" "" "" "BRPF1(NM_001003694.1):c.1684_1685del (p.(His563ProfsTer8))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9740907_9740908del" "" "VUS" "" "0000339000" "0" "50" "3" "9787588" "9787588" "subst" "4.07266E-6" "02327" "BRPF1_000007" "g.9787588C>T" "" "" "" "BRPF1(NM_001003694.2):c.3298C>T (p.R1100*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9745904C>T" "" "VUS" "" "0000351495" "0" "90" "3" "9781185" "9781185" "del" "0" "01807" "BRPF1_000006" "g.9781185del" "" "" "" "1102delC" "" "Unknown" "" "" "0" "" "" "g.9739501del" "" "pathogenic" "" "0000520829" "0" "50" "3" "9780778" "9780778" "subst" "4.06365E-6" "02327" "BRPF1_000009" "g.9780778G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9739094G>A" "" "VUS" "" "0000520830" "0" "70" "3" "9781241" "9781241" "subst" "0" "01804" "BRPF1_000010" "g.9781241C>G" "" "" "" "BRPF1(NM_001003694.1):c.1158C>G (p.(Cys386Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9739557C>G" "" "likely pathogenic" "" "0000520836" "0" "10" "3" "9787527" "9787527" "subst" "0.0376905" "01804" "BRPF1_000015" "g.9787527C>T" "" "" "" "BRPF1(NM_001003694.1):c.3237C>T (p.(Gly1079=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9745843C>T" "" "benign" "" "0000520837" "0" "50" "3" "9792107" "9792107" "subst" "0.00221961" "01943" "OGG1_000016" "g.9792107G>A" "" "" "" "OGG1(NM_016828.2):c.137G>A (p.R46Q), OGG1(NM_016828.3):c.137G>A (p.R46Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9750423G>A" "" "VUS" "" "0000520838" "0" "30" "3" "9792744" "9792744" "subst" "0.00140586" "01943" "OGG1_000009" "g.9792744G>T" "" "" "" "OGG1(NM_016828.2):c.253G>T (p.A85S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9751060G>T" "" "likely benign" "" "0000608908" "0" "70" "3" "9788074" "9788074" "subst" "0" "02327" "BRPF1_000018" "g.9788074C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9746390C>T" "" "likely pathogenic" "" "0000621320" "0" "50" "3" "9785426" "9785426" "subst" "0" "02325" "BRPF1_000016" "g.9785426C>T" "" "" "" "BRPF1(NM_001003694.2):c.2476C>T (p.R826W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9743742C>T" "" "VUS" "" "0000621321" "0" "70" "3" "9785529" "9785542" "dup" "0" "02329" "BRPF1_000017" "g.9785529_9785542dup" "" "" "" "BRPF1(NM_001003694.2):c.2579_2592dupAGGATGGGCAGACA (p.D865Rfs*66)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9743845_9743858dup" "" "likely pathogenic" "" "0000644173" "0" "90" "3" "9781625" "9781625" "dup" "0" "01807" "BRPF1_000019" "g.9781625dup" "" "" "" "1542dupC" "" "Unknown" "" "" "0" "" "" "g.9739941dup" "" "pathogenic" "" "0000655031" "0" "90" "3" "9785444" "9785444" "subst" "0" "02325" "BRPF1_000020" "g.9785444C>T" "" "" "" "BRPF1(NM_001003694.2):c.2494C>T (p.Q832*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9743760C>T" "" "pathogenic" "" "0000655032" "0" "50" "3" "9787598" "9787598" "subst" "0" "02329" "BRPF1_000021" "g.9787598C>T" "" "" "" "BRPF1(NM_001003694.1):c.3308C>T (p.P1103L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9745914C>T" "" "VUS" "" "0000667409" "0" "90" "3" "9785409" "9785410" "del" "0" "01807" "BRPF1_000022" "g.9785409_9785410del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.9743725_9743726del" "" "pathogenic" "" "0000677108" "0" "70" "3" "9787588" "9787588" "subst" "4.07266E-6" "02325" "BRPF1_000007" "g.9787588C>T" "" "" "" "BRPF1(NM_001003694.2):c.3298C>T (p.R1100*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000689163" "0" "50" "3" "9785426" "9785426" "subst" "0" "02327" "BRPF1_000016" "g.9785426C>T" "" "" "" "BRPF1(NM_001003694.2):c.2476C>T (p.R826W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719649" "0" "90" "3" "9780834" "9780834" "subst" "0" "02329" "BRPF1_000023" "g.9780834C>T" "" "" "" "BRPF1(NM_001003694.2):c.751C>T (p.R251*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719650" "0" "90" "3" "9781265" "9781266" "del" "0" "02329" "BRPF1_000011" "g.9781265_9781266del" "" "" "" "BRPF1(NM_001003694.2):c.1182_1183delAG (p.A396Lfs*69)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719651" "0" "30" "3" "9781465" "9781465" "subst" "0.000122284" "02325" "BRPF1_000012" "g.9781465A>G" "" "" "" "BRPF1(NM_001003694.2):c.1382A>G (p.H461R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719652" "0" "50" "3" "9783082" "9783082" "subst" "0" "02329" "BRPF1_000003" "g.9783082G>A" "" "" "" "BRPF1(NM_001003694.1):c.1813G>A (p.V605M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719653" "0" "50" "3" "9792107" "9792107" "subst" "0.00221961" "02329" "OGG1_000016" "g.9792107G>A" "" "" "" "OGG1(NM_016828.2):c.137G>A (p.R46Q), OGG1(NM_016828.3):c.137G>A (p.R46Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801400" "0" "30" "3" "9784618" "9784618" "subst" "4.0991E-6" "01943" "BRPF1_000024" "g.9784618G>C" "" "" "" "BRPF1(NM_001003694.1):c.2002-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801401" "0" "30" "3" "9786173" "9786173" "subst" "0.000130307" "01943" "BRPF1_000025" "g.9786173C>T" "" "" "" "BRPF1(NM_001003694.1):c.2901C>T (p.S967=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801402" "0" "30" "3" "9792731" "9792731" "subst" "4.07445E-5" "01943" "BRPF1_000026" "g.9792731A>G" "" "" "" "OGG1(NM_016828.2):c.240A>G (p.G80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850436" "0" "50" "3" "9781212" "9781212" "subst" "0" "02329" "BRPF1_000027" "g.9781212A>G" "" "" "" "BRPF1(NM_001003694.1):c.1129A>G (p.I377V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850437" "0" "30" "3" "9792643" "9792643" "subst" "5.2815E-5" "02326" "BRPF1_000028" "g.9792643G>C" "" "" "" "OGG1(NM_016828.2):c.152G>C (p.S51T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886024" "0" "30" "3" "9787253" "9787253" "subst" "0.000722989" "02325" "BRPF1_000029" "g.9787253A>T" "" "" "" "BRPF1(NM_001003694.2):c.3069-4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886025" "0" "70" "3" "9788005" "9788005" "subst" "0" "02327" "BRPF1_000030" "g.9788005C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000959672" "11" "70" "3" "9781058" "9781059" "del" "0" "01164" "BRPF1_000031" "g.9781058_9781059del" "" "" "" "" "ACMG: PVS1, PM2_SUP, inherited from affected father" "Germline" "yes" "" "" "" "" "g.9739374_9739375del" "" "likely pathogenic (dominant)" "ACMG" "0000962940" "0" "50" "3" "9788916" "9788916" "dup" "0" "02326" "BRPF1_000033" "g.9788916dup" "" "" "" "BRPF1(NM_001003694.2):c.3546dupG (p.L1183Afs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000971517" "0" "30" "3" "9780756" "9780756" "subst" "0" "03779" "BRPF1_000032" "g.9780756C>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000976016" "0" "70" "3" "9781224" "9781224" "subst" "0" "01804" "BRPF1_000034" "g.9781224C>T" "" "" "" "BRPF1(NM_001003694.2):c.1141C>T (p.(Arg381Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976017" "0" "30" "3" "9783865" "9783865" "subst" "0" "01804" "BRPF1_000035" "g.9783865C>T" "" "" "" "BRPF1(NM_001003694.2):c.2001+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976018" "0" "50" "3" "9785461" "9785475" "del" "0" "01804" "BRPF1_000036" "g.9785461_9785475del" "" "" "" "BRPF1(NM_001003694.2):c.2511_2525del (p.(Asp838_Arg842del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976019" "0" "30" "3" "9787103" "9787103" "subst" "0" "01804" "BRPF1_000037" "g.9787103T>C" "" "" "" "BRPF1(NM_001003694.2):c.3069-154T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993958" "0" "50" "3" "9776149" "9776149" "subst" "4.06891E-6" "01804" "BRPF1_000038" "g.9776149C>T" "" "" "" "BRPF1(NM_001003694.1):c.325C>T (p.(Arg109Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993959" "0" "30" "3" "9782632" "9782632" "subst" "0" "01804" "BRPF1_000039" "g.9782632T>G" "" "" "" "BRPF1(NM_001003694.1):c.1722+7T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993960" "0" "30" "3" "9784713" "9784713" "subst" "0" "01804" "BRPF1_000040" "g.9784713T>G" "" "" "" "BRPF1(NM_001003694.1):c.2087T>G (p.(Phe696Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993961" "0" "30" "3" "9785277" "9785277" "subst" "4.12752E-6" "01804" "BRPF1_000041" "g.9785277G>A" "" "" "" "BRPF1(NM_001003694.1):c.2327G>A (p.(Arg776Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993962" "0" "30" "3" "9785500" "9785500" "subst" "0" "01804" "BRPF1_000042" "g.9785500T>A" "" "" "" "BRPF1(NM_001003694.1):c.2550T>A (p.(Ser850Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993963" "0" "50" "3" "9787262" "9787262" "subst" "2.43679E-5" "01804" "BRPF1_000043" "g.9787262C>T" "" "" "" "BRPF1(NM_001003694.1):c.3074C>T (p.(Thr1025Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993964" "0" "50" "3" "9787381" "9787381" "subst" "4.06342E-5" "01804" "BRPF1_000044" "g.9787381G>A" "" "" "" "BRPF1(NM_001003694.1):c.3193G>A (p.(Val1065Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034211" "0" "70" "3" "9781356" "9781356" "subst" "0" "01804" "BRPF1_000045" "g.9781356C>G" "" "" "" "BRPF1(NM_001003694.2):c.1273C>G (p.(Pro425Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001034212" "0" "30" "3" "9786704" "9786704" "subst" "0.000121822" "01804" "BRPF1_000046" "g.9786704A>G" "" "" "" "BRPF1(NM_001003694.2):c.2933A>G (p.(Asn978Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 BRPF1 ## Count = 51 "{{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}}" "0000268006" "00003502" "50" "2807" "0" "2807" "0" "c.2807C>T" "r.(?)" "p.(Pro936Leu)" "" "0000272160" "00003502" "70" "2982" "0" "2982" "0" "c.2982C>G" "r.(?)" "p.(Tyr994Ter)" "" "0000298757" "00003502" "30" "6615" "0" "6615" "0" "c.*2952G>T" "r.(=)" "p.(=)" "" "0000298758" "00003502" "30" "7411" "0" "7411" "0" "c.*3748G>A" "r.(=)" "p.(=)" "" "0000298759" "00003502" "50" "8159" "0" "8159" "0" "c.*4496G>A" "r.(=)" "p.(=)" "" "0000329222" "00003502" "50" "1622" "0" "1626" "0" "c.1622_1626dup" "r.(?)" "p.(Tyr543ThrfsTer6)" "" "0000329223" "00003502" "50" "1688" "0" "1689" "0" "c.1688_1689del" "r.(?)" "p.(His563ProfsTer8)" "" "0000339000" "00003502" "50" "3298" "0" "3298" "0" "c.3298C>T" "r.(?)" "p.(Arg1100Ter)" "" "0000351495" "00003502" "90" "1102" "0" "1102" "0" "c.1102del" "r.(?)" "p.(Leu368*)" "" "0000520829" "00003502" "50" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Arg232Gln)" "" "0000520830" "00003502" "70" "1158" "0" "1158" "0" "c.1158C>G" "r.(?)" "p.(Cys386Trp)" "" "0000520836" "00003502" "10" "3237" "0" "3237" "0" "c.3237C>T" "r.(?)" "p.(Gly1079=)" "" "0000520837" "00003502" "50" "6737" "0" "6737" "0" "c.*3074G>A" "r.(=)" "p.(=)" "" "0000520838" "00003502" "30" "7374" "0" "7374" "0" "c.*3711G>T" "r.(=)" "p.(=)" "" "0000608908" "00003502" "70" "3415" "0" "3415" "0" "c.3415C>T" "r.(?)" "p.(Gln1139Ter)" "" "0000621320" "00003502" "50" "2476" "0" "2476" "0" "c.2476C>T" "r.(?)" "p.(Arg826Trp)" "" "0000621321" "00003502" "70" "2579" "0" "2592" "0" "c.2579_2592dup" "r.(?)" "p.(Asp865ArgfsTer66)" "" "0000644173" "00003502" "90" "1542" "0" "1542" "0" "c.1542dup" "r.(?)" "p.(Cys515Leufs*8)" "" "0000655031" "00003502" "90" "2494" "0" "2494" "0" "c.2494C>T" "r.(?)" "p.(Gln832Ter)" "" "0000655032" "00003502" "50" "3308" "0" "3308" "0" "c.3308C>T" "r.(?)" "p.(Pro1103Leu)" "" "0000667409" "00003502" "90" "2459" "0" "2460" "0" "c.2459_2460del" "r.(?)" "p.(Lys820ArgfsTer18)" "" "0000677108" "00003502" "70" "3298" "0" "3298" "0" "c.3298C>T" "r.(?)" "p.(Arg1100Ter)" "" "0000689163" "00003502" "50" "2476" "0" "2476" "0" "c.2476C>T" "r.(?)" "p.(Arg826Trp)" "" "0000719649" "00003502" "90" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Arg251*)" "" "0000719650" "00003502" "90" "1182" "0" "1183" "0" "c.1182_1183del" "r.(?)" "p.(Ala396LeufsTer69)" "" "0000719651" "00003502" "30" "1382" "0" "1382" "0" "c.1382A>G" "r.(?)" "p.(His461Arg)" "" "0000719652" "00003502" "50" "1813" "0" "1813" "0" "c.1813G>A" "r.(?)" "p.(Val605Met)" "" "0000719653" "00003502" "50" "6737" "0" "6737" "0" "c.*3074G>A" "r.(=)" "p.(=)" "" "0000801400" "00003502" "30" "2002" "-10" "2002" "-10" "c.2002-10G>C" "r.(=)" "p.(=)" "" "0000801401" "00003502" "30" "2901" "0" "2901" "0" "c.2901C>T" "r.(?)" "p.(Ser967=)" "" "0000801402" "00003502" "30" "7361" "0" "7361" "0" "c.*3698A>G" "r.(=)" "p.(=)" "" "0000850436" "00003502" "50" "1129" "0" "1129" "0" "c.1129A>G" "r.(?)" "p.(Ile377Val)" "" "0000850437" "00003502" "30" "7273" "0" "7273" "0" "c.*3610G>C" "r.(=)" "p.(=)" "" "0000886024" "00003502" "30" "3069" "-4" "3069" "-4" "c.3069-4A>T" "r.spl?" "p.?" "" "0000886025" "00003502" "70" "3346" "0" "3346" "0" "c.3346C>T" "r.(?)" "p.(Arg1116*)" "" "0000959672" "00003502" "70" "975" "0" "976" "0" "c.975_976del" "r.(?)" "p.(Arg326Cysfs*19)" "" "0000962940" "00003502" "50" "3546" "0" "3546" "0" "c.3546dup" "r.(?)" "p.(Leu1183Alafs*33)" "" "0000971517" "00003502" "30" "673" "0" "673" "0" "c.673C>A" "r.(?)" "p.(Leu225Met)" "" "0000976016" "00003502" "70" "1141" "0" "1141" "0" "c.1141C>T" "r.(?)" "p.(Arg381Cys)" "" "0000976017" "00003502" "30" "2001" "10" "2001" "10" "c.2001+10C>T" "r.(=)" "p.(=)" "" "0000976018" "00003502" "50" "2511" "0" "2525" "0" "c.2511_2525del" "r.(?)" "p.(Asp838_Arg842del)" "" "0000976019" "00003502" "30" "3069" "-154" "3069" "-154" "c.3069-154T>C" "r.(=)" "p.(=)" "" "0000993958" "00003502" "50" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109Cys)" "" "0000993959" "00003502" "30" "1722" "7" "1722" "7" "c.1722+7T>G" "r.(=)" "p.(=)" "" "0000993960" "00003502" "30" "2087" "0" "2087" "0" "c.2087T>G" "r.(?)" "p.(Phe696Cys)" "" "0000993961" "00003502" "30" "2327" "0" "2327" "0" "c.2327G>A" "r.(?)" "p.(Arg776Gln)" "" "0000993962" "00003502" "30" "2550" "0" "2550" "0" "c.2550T>A" "r.(?)" "p.(Ser850Arg)" "" "0000993963" "00003502" "50" "3074" "0" "3074" "0" "c.3074C>T" "r.(?)" "p.(Thr1025Met)" "" "0000993964" "00003502" "50" "3193" "0" "3193" "0" "c.3193G>A" "r.(?)" "p.(Val1065Met)" "" "0001034211" "00003502" "70" "1273" "0" "1273" "0" "c.1273C>G" "r.(?)" "p.(Pro425Ala)" "" "0001034212" "00003502" "30" "2933" "0" "2933" "0" "c.2933A>G" "r.(?)" "p.(Asn978Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000152671" "0000351495" "0000288260" "0000644173" "0000304018" "0000667409" "0000449464" "0000959672"