### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BRD4) # 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}}" "BRD4" "bromodomain containing 4" "19" "" "unknown" "NC_000019.9" "UD_132462848953" "" "https://www.LOVD.nl/BRD4" "" "1" "13575" "23476" "608749" "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/BRD4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-09 18:45:23" "00000" "2025-11-01 13:22:20" ## 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}}" "00003484" "BRD4" "transcript variant long" "001" "NM_058243.2" "" "NP_490597.1" "" "" "" "-222" "4976" "4089" "15391262" "15348301" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00219399" "" "" "" "3" "" "00006" "{PMID:Olivé 2015:25801283}" "4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "M" "" "Spain" "" "0" "" "" "" "25801283-FamPatIII4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00219399" "00351" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00351 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000167937" "00351" "00219399" "00006" "Familial, autosomal recessive" "60y" "20y-ECG hypertrophic cardiomyopathy; 4th decade slowly progressing weakness proximal muscles four limbs, difficulties on stairs and lifting heavy objects; ..." "15y" "" "dyspnoea upon exertion" "" "" "" "" "" "protein aggregate myopathies" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000220471" "00219399" "1" "00006" "00006" "2019-02-09 18:18:07" "00006" "2019-02-09 18:34:14" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "candidate gene screening and WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000220471" "TRIM54" "0000220471" "TRIM63" ## 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 = 37 "{{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}}" "0000269373" "0" "30" "19" "15353814" "15353814" "subst" "0.000731323" "02326" "BRD4_000001" "g.15353814C>G" "" "" "" "BRD4(NM_058243.2):c.3066G>C (p.P1022=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15243003C>G" "" "likely benign" "" "0000272155" "0" "50" "19" "15355248" "15355248" "subst" "0" "01943" "BRD4_000002" "g.15355248G>A" "" "" "" "BRD4(NM_058243.2):c.2375C>T (p.A792V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15244437G>A" "" "VUS" "" "0000272156" "0" "50" "19" "15379843" "15379843" "subst" "0" "01943" "BRD4_000003" "g.15379843T>G" "" "" "" "BRD4(NM_058243.2):c.296A>C (p.K99T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15269032T>G" "" "VUS" "" "0000344710" "0" "50" "19" "15376242" "15376242" "subst" "0" "02327" "BRD4_000004" "g.15376242G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15265431G>A" "" "VUS" "" "0000455434" "0" "50" "19" "15349764" "15349764" "" "0" "00006" "BRD4_000005" "g.15349764C>R" "" "{PMID:Olivé 2015:25801283}" "" "Glu1270Asp" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000566436" "0" "50" "19" "15349549" "15349549" "subst" "0" "01804" "BRD4_000006" "g.15349549C>A" "" "" "" "BRD4(NM_058243.2):c.4020+5G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15238738C>A" "" "VUS" "" "0000617419" "0" "70" "19" "15367774" "15367774" "subst" "0" "01804" "BRD4_000007" "g.15367774C>T" "" "" "" "BRD4(NM_058243.2):c.1551+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15256963C>T" "" "likely pathogenic" "" "0000727182" "0" "30" "19" "15349752" "15349752" "subst" "0.000145778" "02325" "BRD4_000008" "g.15349752C>T" "" "" "" "BRD4(NM_058243.3):c.3822G>A (p.R1274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727183" "0" "70" "19" "15353825" "15353825" "dup" "0" "02325" "BRD4_000009" "g.15353825dup" "" "" "" "BRD4(NM_058243.3):c.3061dupC (p.H1021Pfs*72)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727184" "0" "30" "19" "15366403" "15366403" "subst" "2.08796E-5" "02325" "BRD4_000010" "g.15366403G>A" "" "" "" "BRD4(NM_058243.3):c.1752C>T (p.S584=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808737" "0" "50" "19" "15366998" "15366998" "subst" "0" "02325" "BRD4_000011" "g.15366998T>C" "" "" "" "BRD4(NM_058243.3):c.1628A>G (p.K543R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865941" "0" "30" "19" "15355399" "15355399" "subst" "0" "01943" "BRD4_000012" "g.15355399G>A" "" "" "" "BRD4(NM_058243.2):c.2224C>T (p.H742Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915153" "0" "70" "19" "15353756" "15353756" "dup" "0" "02329" "BRD4_000013" "g.15353756dup" "" "" "" "BRD4(NM_001379291.1):c.3124dupC (p.H1042Pfs*51)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000951234" "0" "50" "19" "15366892" "15366894" "del" "0" "02325" "BRD4_000014" "g.15366892_15366894del" "" "" "" "BRD4(NM_058243.3):c.1736_1738delGCA (p.S579del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983282" "0" "30" "19" "15349971" "15349971" "subst" "0.00350504" "01804" "BRD4_000015" "g.15349971G>A" "" "" "" "BRD4(NM_001379291.1):c.3681C>T (p.(Phe1227=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983283" "0" "30" "19" "15355060" "15355060" "subst" "0" "01804" "BRD4_000016" "g.15355060C>T" "" "" "" "BRD4(NM_001379291.1):c.2563G>A (p.(Ala855Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983284" "0" "30" "19" "15355260" "15355260" "subst" "7.46891E-5" "01804" "BRD4_000017" "g.15355260T>C" "" "" "" "BRD4(NM_001379291.1):c.2363A>G (p.(Gln788Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983285" "0" "30" "19" "15366353" "15366353" "subst" "1.63495E-5" "01804" "BRD4_000018" "g.15366353G>C" "" "" "" "BRD4(NM_001379291.1):c.1802C>G (p.(Ser601Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983286" "0" "30" "19" "15376268" "15376268" "subst" "5.52196E-5" "01804" "BRD4_000019" "g.15376268G>A" "" "" "" "BRD4(NM_001379291.1):c.746C>T (p.(Thr249Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004474" "0" "30" "19" "15354055" "15354055" "subst" "0" "01804" "BRD4_000020" "g.15354055G>A" "" "" "" "BRD4(NM_058243.2):c.2825C>T (p.(Thr942Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004475" "0" "30" "19" "15355374" "15355374" "subst" "1.27188E-5" "01804" "BRD4_000021" "g.15355374G>A" "" "" "" "BRD4(NM_058243.2):c.2249C>T (p.(Pro750Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004476" "0" "30" "19" "15366380" "15366380" "subst" "4.10863E-6" "01804" "BRD4_000022" "g.15366380T>C" "" "" "" "BRD4(NM_058243.2):c.1775A>G (p.(Lys592Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004477" "0" "30" "19" "15366893" "15366893" "subst" "1.23482E-5" "01804" "BRD4_000023" "g.15366893C>T" "" "" "" "BRD4(NM_058243.2):c.1733G>A (p.(Ser578Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004478" "0" "50" "19" "15366908" "15366908" "subst" "3.71999E-5" "01804" "BRD4_000024" "g.15366908G>A" "" "" "" "BRD4(NM_058243.2):c.1718C>T (p.(Thr573Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004479" "0" "30" "19" "15367884" "15367884" "subst" "1.7367E-5" "01804" "BRD4_000025" "g.15367884G>T" "" "" "" "BRD4(NM_058243.2):c.1442C>A (p.(Ala481Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004480" "0" "30" "19" "15367924" "15367924" "subst" "1.68203E-5" "01804" "BRD4_000026" "g.15367924C>G" "" "" "" "BRD4(NM_058243.2):c.1402G>C (p.(Val468Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004481" "0" "30" "19" "15374334" "15374334" "subst" "4.46682E-5" "01804" "BRD4_000027" "g.15374334C>T" "" "" "" "BRD4(NM_058243.2):c.1238G>A (p.(Arg413His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004482" "0" "30" "19" "15375496" "15375496" "subst" "8.20432E-6" "01804" "BRD4_000028" "g.15375496G>C" "" "" "" "BRD4(NM_058243.2):c.931C>G (p.(Pro311Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004483" "0" "50" "19" "15376305" "15376305" "subst" "0" "01804" "BRD4_000029" "g.15376305G>A" "" "" "" "BRD4(NM_058243.2):c.709C>T (p.(Pro237Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042737" "0" "30" "19" "15355353" "15355353" "subst" "3.26675E-5" "01804" "BRD4_000030" "g.15355353G>A" "" "" "" "BRD4(NM_001379291.1):c.2270C>T (p.(Pro757Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042738" "0" "30" "19" "15366408" "15366408" "subst" "8.40442E-6" "01804" "BRD4_000031" "g.15366408G>A" "" "" "" "BRD4(NM_001379291.1):c.1752-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056540" "0" "50" "19" "15349677" "15349677" "subst" "0" "01804" "BRD4_000032" "g.15349677C>G" "" "" "" "BRD4(NM_001379291.1):c.3897G>C (p.(Gln1299His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056541" "0" "50" "19" "15350330" "15350330" "subst" "0" "01804" "BRD4_000033" "g.15350330G>T" "" "" "" "BRD4(NM_001379291.1):c.3449C>A (p.(Pro1150Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056542" "0" "30" "19" "15355162" "15355162" "subst" "1.7821E-5" "01804" "BRD4_000034" "g.15355162C>T" "" "" "" "BRD4(NM_001379291.1):c.2461G>A (p.(Gly821Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056543" "0" "30" "19" "15355516" "15355516" "subst" "5.27893E-5" "01804" "BRD4_000035" "g.15355516T>C" "" "" "" "BRD4(NM_001379291.1):c.2211+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056544" "0" "30" "19" "15364525" "15364525" "subst" "0" "01804" "BRD4_000036" "g.15364525C>T" "" "" "" "BRD4(NM_001330384.2):c.2228G>A (p.(Arg743His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056545" "0" "30" "19" "15375499" "15375499" "subst" "3.28108E-5" "01804" "BRD4_000037" "g.15375499G>T" "" "" "" "BRD4(NM_001379291.1):c.928C>A (p.(Pro310Thr))" "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 BRD4 ## Count = 37 "{{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}}" "0000269373" "00003484" "30" "3066" "0" "3066" "0" "c.3066G>C" "r.(?)" "p.(Pro1022=)" "" "0000272155" "00003484" "50" "2375" "0" "2375" "0" "c.2375C>T" "r.(?)" "p.(Ala792Val)" "" "0000272156" "00003484" "50" "296" "0" "296" "0" "c.296A>C" "r.(?)" "p.(Lys99Thr)" "" "0000344710" "00003484" "50" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Gln258Ter)" "" "0000455434" "00003484" "50" "3810" "0" "3810" "0" "c.3810G>Y" "r.(?)" "p.(Glu1270Asp)" "" "0000566436" "00003484" "50" "4020" "5" "4020" "5" "c.4020+5G>T" "r.spl?" "p.?" "" "0000617419" "00003484" "70" "1551" "1" "1551" "1" "c.1551+1G>A" "r.spl?" "p.?" "" "0000727182" "00003484" "30" "3822" "0" "3822" "0" "c.3822G>A" "r.(?)" "p.(Arg1274=)" "" "0000727183" "00003484" "70" "3061" "0" "3061" "0" "c.3061dup" "r.(?)" "p.(His1021Profs*72)" "" "0000727184" "00003484" "30" "1752" "0" "1752" "0" "c.1752C>T" "r.(?)" "p.(Ser584=)" "" "0000808737" "00003484" "50" "1628" "0" "1628" "0" "c.1628A>G" "r.(?)" "p.(Lys543Arg)" "" "0000865941" "00003484" "30" "2224" "0" "2224" "0" "c.2224C>T" "r.(?)" "p.(His742Tyr)" "" "0000915153" "00003484" "70" "3124" "0" "3124" "0" "c.3124dup" "r.(?)" "p.(His1042Profs*51)" "" "0000951234" "00003484" "50" "1736" "0" "1738" "0" "c.1736_1738del" "r.(?)" "p.(Ser579del)" "" "0000983282" "00003484" "30" "3681" "0" "3681" "0" "c.3681C>T" "r.(?)" "p.(=)" "" "0000983283" "00003484" "30" "2563" "0" "2563" "0" "c.2563G>A" "r.(?)" "p.(Ala855Thr)" "" "0000983284" "00003484" "30" "2363" "0" "2363" "0" "c.2363A>G" "r.(?)" "p.(Gln788Arg)" "" "0000983285" "00003484" "30" "1802" "0" "1802" "0" "c.1802C>G" "r.(?)" "p.(Ser601Trp)" "" "0000983286" "00003484" "30" "746" "0" "746" "0" "c.746C>T" "r.(?)" "p.(Thr249Met)" "" "0001004474" "00003484" "30" "2825" "0" "2825" "0" "c.2825C>T" "r.(?)" "p.(Thr942Met)" "" "0001004475" "00003484" "30" "2249" "0" "2249" "0" "c.2249C>T" "r.(?)" "p.(Pro750Leu)" "" "0001004476" "00003484" "30" "1775" "0" "1775" "0" "c.1775A>G" "r.(?)" "p.(Lys592Arg)" "" "0001004477" "00003484" "30" "1733" "0" "1733" "0" "c.1733G>A" "r.(?)" "p.(Ser578Asn)" "" "0001004478" "00003484" "50" "1718" "0" "1718" "0" "c.1718C>T" "r.(?)" "p.(Thr573Met)" "" "0001004479" "00003484" "30" "1442" "0" "1442" "0" "c.1442C>A" "r.(?)" "p.(Ala481Asp)" "" "0001004480" "00003484" "30" "1402" "0" "1402" "0" "c.1402G>C" "r.(?)" "p.(Val468Leu)" "" "0001004481" "00003484" "30" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Arg413His)" "" "0001004482" "00003484" "30" "931" "0" "931" "0" "c.931C>G" "r.(?)" "p.(Pro311Ala)" "" "0001004483" "00003484" "50" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Pro237Ser)" "" "0001042737" "00003484" "30" "2270" "0" "2270" "0" "c.2270C>T" "r.(?)" "p.(Pro757Leu)" "" "0001042738" "00003484" "30" "1752" "-5" "1752" "-5" "c.1752-5C>T" "r.spl?" "p.?" "" "0001056540" "00003484" "50" "3897" "0" "3897" "0" "c.3897G>C" "r.(?)" "p.(Gln1299His)" "" "0001056541" "00003484" "50" "3449" "0" "3449" "0" "c.3449C>A" "r.(?)" "p.(Pro1150Gln)" "" "0001056542" "00003484" "30" "2461" "0" "2461" "0" "c.2461G>A" "r.(?)" "p.(Gly821Ser)" "" "0001056543" "00003484" "30" "2211" "5" "2211" "5" "c.2211+5A>G" "r.spl?" "p.?" "" "0001056544" "00003484" "30" "2158" "438" "2158" "438" "c.2158+438G>A" "r.(=)" "p.(=)" "" "0001056545" "00003484" "30" "928" "0" "928" "0" "c.928C>A" "r.(?)" "p.(Pro310Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000220471" "0000455434"