### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PDS5B) # 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}}" "PDS5B" "PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)" "13" "q12.3" "unknown" "NG_021308.1" "UD_132118658504" "" "https://www.LOVD.nl/PDS5B" "" "1" "20418" "23047" "605333" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PDS5B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-03-01 00:00:00" "00006" "2018-08-22 08:40:28" "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}}" "00015934" "PDS5B" "PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)" "001" "NM_015032.3" "" "NP_055847.1" "" "" "" "-186" "7312" "4344" "33160564" "33352158" "" "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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "04281" "CDLS" "Cornelia de Lange syndrome (CDLS)" "" "" "" "" "" "00006" "2015-06-15 14:50:45" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00179523" "" "" "" "4" "" "00006" "{PMID:Zhang 2009:19412548}" "parents distantly consanguineous, unaffected carrier father, decased son 19412548-CDL238.II1" "M" "" "United States" "" "0" "" "" "" "19412548-CDL238.I1" "00179524" "" "" "00179523" "1" "" "00006" "{PMID:Zhang 2009:19412548}" "son of 19412548-CDL238.I1" "M" "" "United States" "" "0" "" "" "" "19412548-CDL238.II2" "00179525" "" "" "00179523" "1" "" "00006" "{PMID:Zhang 2009:19412548}" "daugther of 19412548-CDL238.I1" "F" "" "United States" "" "0" "" "" "" "19412548-CDL238.II3" "00179526" "" "" "00179523" "1" "" "00006" "{PMID:Zhang 2009:19412548}" "son of 19412548-CDL238.I1" "M" "" "United States" "" "0" "" "" "" "19412548-CDL238.II4" "00179527" "" "" "" "111" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179528" "" "" "" "111" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179529" "" "" "" "110" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179530" "" "" "" "107" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179531" "" "" "" "117" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179532" "" "" "" "110" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179533" "" "" "" "111" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179534" "" "" "" "5" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179535" "" "" "" "52" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179536" "" "" "" "1" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179537" "" "" "" "1" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179538" "" "" "" "1" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" "00179539" "" "" "" "1" "" "00006" "{PMID:Zhang 2009:19412548}" "" "" "" "United States" "" "0" "" "" "" "19412548-Pat" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00179523" "00000" "00179524" "04281" "00179525" "04281" "00179526" "00000" "00179527" "04281" "00179528" "04281" "00179529" "04281" "00179530" "04281" "00179531" "04281" "00179532" "04281" "00179533" "04281" "00179534" "04281" "00179535" "04281" "00179536" "04281" "00179537" "04281" "00179538" "04281" "00179539" "04281" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 04281 ## Count = 2 "{{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}}" "0000142008" "04281" "00179524" "00006" "Familial" "" "typical facial dysmorphisms (microbrachycephaly, arched eye brows, synophrys, ptosis, long philtrum, low posterior hairline, short neck), single palmar creases, hirsutism, mental retardation, seizures, growth retardation (height and weight below 3rd centiles); small hands, no structural limb abnormalities, severe form megacolon" "" "" "" "" "" "" "" "" "Cornelia de Lange syndrome" "0000142009" "04281" "00179525" "00006" "Familial" "" "typical facial dysmorphisms (microbrachycephaly, arched eye brows, synophrys, ptosis, long philtrum, low posterior hairline, short neck), single palmar creases, hirsutism, mental retardation, seizures, growth retardation (height and weight below 3rd centiles); small hands, no structural limb abnormalities, severe form megacolon" "" "" "" "" "" "" "" "" "Cornelia de Lange syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000180426" "00179523" "1" "00006" "00006" "2010-04-02 14:18:40" "" "" "SEQ" "DNA" "" "" "0000180427" "00179524" "1" "00006" "00006" "2010-04-02 14:18:40" "" "" "SEQ" "DNA" "" "" "0000180428" "00179525" "1" "00006" "00006" "2010-04-02 14:18:40" "" "" "SEQ" "DNA" "" "" "0000180429" "00179526" "1" "00006" "00006" "2010-04-02 14:18:40" "" "" "SEQ" "DNA" "" "" "0000180430" "00179527" "1" "00006" "00006" "2010-04-02 14:18:40" "" "" "SEQ" "DNA" "" "" "0000180431" "00179528" "1" "00006" "00006" "2010-04-02 14:18:40" "" "" "SEQ" "DNA" "" "" "0000180432" "00179529" "1" "00006" "00006" "2010-04-02 14:18:40" "" "" "SEQ" "DNA" "" "" "0000180433" "00179530" "1" "00006" "00006" "2010-04-02 14:18:40" "" "" "SEQ" "DNA" "" "" "0000180434" "00179531" "1" "00006" "00006" "2010-04-02 14:18:40" "" "" "SEQ" "DNA" "" "" "0000180435" "00179532" "1" "00006" "00006" "2010-04-02 14:18:40" "" "" "SEQ" "DNA" "" "" "0000180436" "00179533" "1" "00006" "00006" "2010-04-02 14:18:40" "" "" "SEQ" "DNA" "" "" "0000180437" "00179534" "1" "00006" "00006" "2010-04-02 14:18:40" "" "" "SEQ" "DNA" "" "" "0000180438" "00179535" "1" "00006" "00006" "2010-04-02 14:18:40" "" "" "SEQ" "DNA" "" "" "0000180439" "00179536" "1" "00006" "00006" "2010-04-02 14:18:40" "" "" "SEQ" "DNA" "" "" "0000180440" "00179537" "1" "00006" "00006" "2010-04-02 14:18:40" "" "" "SEQ" "DNA" "" "" "0000180441" "00179538" "1" "00006" "00006" "2010-04-02 14:18:40" "" "" "SEQ" "DNA" "" "" "0000180442" "00179539" "1" "00006" "00006" "2010-04-02 14:18:40" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{geneid}}" "0000180426" "PDS5B" "0000180427" "PDS5B" "0000180428" "PDS5B" "0000180429" "PDS5B" "0000180430" "PDS5B" "0000180431" "PDS5B" "0000180432" "PDS5B" "0000180433" "PDS5B" "0000180434" "PDS5B" "0000180435" "PDS5B" "0000180436" "PDS5B" "0000180437" "PDS5B" "0000180438" "PDS5B" "0000180439" "PDS5B" "0000180440" "PDS5B" "0000180441" "PDS5B" "0000180442" "PDS5B" ## 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 = 30 "{{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}}" "0000255284" "0" "30" "13" "33315210" "33315210" "subst" "0" "01943" "PDS5B_000015" "g.33315210A>T" "" "" "" "PDS5B(NM_015032.3):c.2407-8A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32741072A>T" "" "likely benign" "" "0000305418" "0" "50" "13" "33233330" "33233330" "subst" "0" "01943" "PDS5B_000014" "g.33233330C>G" "" "" "" "PDS5B(NM_015032.3):c.537C>G (p.D179E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32659193C>G" "" "VUS" "" "0000403910" "1" "90" "13" "33344509" "33344509" "subst" "0" "00006" "PDS5B_000001" "g.33344509G>A" "" "{PMID:Zhang 2009:19412548}" "" "" "not in 432 control chromosomes" "Germline" "" "" "0" "" "" "g.32770371G>A" "" "pathogenic" "" "0000403911" "11" "90" "13" "33344509" "33344509" "subst" "0" "00006" "PDS5B_000001" "g.33344509G>A" "" "{PMID:Zhang 2009:19412548}" "" "" "not in 432 control chromosomes" "Germline" "" "" "0" "" "" "g.32770371G>A" "" "pathogenic" "" "0000403912" "11" "90" "13" "33344509" "33344509" "subst" "0" "00006" "PDS5B_000001" "g.33344509G>A" "" "{PMID:Zhang 2009:19412548}" "" "" "not in 432 control chromosomes" "Germline" "" "" "0" "" "" "g.32770371G>A" "" "pathogenic" "" "0000403913" "11" "90" "13" "33344509" "33344509" "subst" "0" "00006" "PDS5B_000001" "g.33344509G>A" "" "{PMID:Zhang 2009:19412548}" "" "" "not in 432 control chromosomes" "Germline" "" "" "0" "" "" "g.32770371G>A" "" "pathogenic" "" "0000403914" "0" "10" "13" "33222831" "33222831" "subst" "0" "00006" "PDS5B_000002" "g.33222831G>A" "111/228" "{PMID:Zhang 2009:19412548}" "" "-79G>A" "" "Germline" "" "" "0" "" "" "g.32648694G>A" "" "benign" "" "0000403915" "0" "10" "13" "33232334" "33232334" "subst" "0.363567" "00006" "PDS5B_000003" "g.33232334G>A" "111/228" "{PMID:Zhang 2009:19412548}" "" "" "" "Germline" "" "" "0" "" "" "g.32658197G>A" "" "benign" "" "0000403916" "0" "10" "13" "33232435" "33232435" "subst" "0.365789" "00006" "PDS5B_000004" "g.33232435A>G" "110/228" "{PMID:Zhang 2009:19412548}" "" "" "" "Germline" "" "" "0" "" "" "g.32658298A>G" "" "benign" "" "0000403917" "0" "10" "13" "33253144" "33253144" "del" "0" "00006" "PDS5B_000005" "g.33253144del" "107/228" "{PMID:Zhang 2009:19412548}" "" "1057+78A>-" "" "Germline" "" "" "0" "" "" "g.32679007del" "" "benign" "" "0000403918" "0" "10" "13" "33315206" "33315206" "subst" "0" "00006" "PDS5B_000006" "g.33315206G>A" "117/228" "{PMID:Zhang 2009:19412548}" "" "" "" "Germline" "" "" "0" "" "" "g.32741068G>A" "" "benign" "" "0000403919" "0" "10" "13" "33332648" "33332648" "subst" "0.37674" "00006" "PDS5B_000007" "g.33332648G>T" "110/228" "{PMID:Zhang 2009:19412548}" "" "" "" "Germline" "" "" "0" "" "" "g.32758510G>T" "" "benign" "" "0000403920" "0" "10" "13" "33333876" "33333876" "subst" "0.391215" "00006" "PDS5B_000008" "g.33333876A>C" "111/228" "{PMID:Zhang 2009:19412548}" "" "" "" "Germline" "" "" "0" "" "" "g.32759738A>C" "" "benign" "" "0000403921" "0" "10" "13" "33232524" "33232524" "subst" "0.0340462" "00006" "PDS5B_000012" "g.33232524T>C" "5/228" "{PMID:Zhang 2009:19412548}" "" "" "" "Germline" "" "" "0" "" "" "g.32658387T>C" "" "benign" "" "0000403922" "0" "10" "13" "33233159" "33233159" "subst" "0" "00006" "PDS5B_000013" "g.33233159A>G" "52/228" "{PMID:Zhang 2009:19412548}" "" "" "" "Germline" "" "" "0" "" "" "g.32659022A>G" "" "benign" "" "0000403923" "0" "10" "13" "33222887" "33222887" "subst" "0.000126319" "00006" "PDS5B_000018" "g.33222887T>A" "1/228" "{PMID:Zhang 2009:19412548}" "" "-23T>A" "" "Germline" "" "" "0" "" "" "g.32648750T>A" "" "benign" "" "0000403924" "0" "10" "13" "33320238" "33320238" "subst" "0.000319457" "00006" "PDS5B_000019" "g.33320238C>T" "1/228" "{PMID:Zhang 2009:19412548}" "" "" "" "Germline" "" "" "0" "" "" "g.32746100C>T" "" "benign" "" "0000403925" "0" "10" "13" "33332806" "33332806" "subst" "0.00628653" "00006" "PDS5B_000020" "g.33332806A>G" "1/228" "{PMID:Zhang 2009:19412548}" "" "" "" "Germline" "" "" "0" "" "" "g.32758668A>G" "" "benign" "" "0000403926" "0" "10" "13" "33347411" "33347411" "subst" "2.85116E-5" "00006" "PDS5B_000021" "g.33347411C>T" "1/228" "{PMID:Zhang 2009:19412548}" "" "" "" "Germline" "" "" "0" "" "" "g.32773273C>T" "" "benign" "" "0000403952" "0" "50" "13" "33222831" "33222831" "subst" "0" "00006" "PDS5B_000002" "g.33222831G>A" "0.07-0.50" "" "" "" "" "Germline" "" "rs2301389" "0" "" "" "g.32648694G>A" "" "VUS" "" "0000403953" "0" "50" "13" "33232334" "33232334" "subst" "0.363567" "00006" "PDS5B_000003" "g.33232334G>A" "0.15-0.54" "" "" "" "" "Germline" "" "rs7335546" "0" "" "" "g.32658197G>A" "" "VUS" "" "0000403954" "0" "50" "13" "33232435" "33232435" "subst" "0.365789" "00006" "PDS5B_000004" "g.33232435A>G" "0.11-0.49" "" "" "" "" "Germline" "" "rs2301393" "0" "" "" "g.32658298A>G" "" "VUS" "" "0000403955" "0" "50" "13" "33253144" "33253144" "del" "0" "00006" "PDS5B_000005" "g.33253144del" "107/228" "" "" "" "" "Germline" "" "rs11355777" "0" "" "" "g.32679007del" "" "VUS" "" "0000403956" "0" "50" "13" "33315206" "33315206" "subst" "0" "00006" "PDS5B_000006" "g.33315206G>A" "0.05-0.13" "" "" "" "" "Germline" "" "rs733487" "0" "" "" "g.32741068G>A" "" "VUS" "" "0000403957" "0" "50" "13" "33332648" "33332648" "subst" "0.37674" "00006" "PDS5B_000007" "g.33332648G>T" "0.03-0.49" "" "" "" "" "Germline" "" "rs3752474" "0" "" "" "g.32758510G>T" "" "VUS" "" "0000403958" "0" "50" "13" "33333876" "33333876" "subst" "0.391215" "00006" "PDS5B_000008" "g.33333876A>C" "0.05-0.47" "" "" "" "" "Germline" "" "rs7988089" "0" "" "" "g.32759738A>C" "" "VUS" "" "0000403959" "0" "90" "13" "33344509" "33344509" "subst" "0" "00006" "PDS5B_000001" "g.33344509G>A" "" "{PMID:Zhang 2009:19412548}" "" "" "electrophoretic mobility shift assay decreased DNA binding" "In vitro (cloned)" "" "" "0" "" "" "g.32770371G>A" "" "NA" "" "0000679800" "0" "30" "13" "33344455" "33344455" "subst" "2.03795E-5" "01943" "PDS5B_000022" "g.33344455T>C" "" "" "" "PDS5B(NM_015032.3):c.3821T>C (p.I1274T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980670" "0" "50" "13" "33271023" "33271023" "subst" "0" "01804" "PDS5B_000027" "g.33271023A>G" "" "" "" "PDS5B(NM_015032.4):c.1584A>G (p.(Lys528=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054653" "0" "50" "13" "33232441" "33232441" "subst" "1.25167E-5" "01804" "PDS5B_000028" "g.33232441T>C" "" "" "" "PDS5B(NM_015032.4):c.378T>C (p.(Asn126=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PDS5B ## Count = 30 "{{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}}" "0000255284" "00015934" "30" "2407" "-8" "2407" "-8" "c.2407-8A>T" "r.(=)" "p.(=)" "" "0000305418" "00015934" "50" "537" "0" "537" "0" "c.537C>G" "r.(?)" "p.(Asp179Glu)" "" "0000403910" "00015934" "90" "3875" "0" "3875" "0" "c.3875G>A" "r.(?)" "p.(Arg1292Gln)" "32" "0000403911" "00015934" "90" "3875" "0" "3875" "0" "c.3875G>A" "r.(?)" "p.(Arg1292Gln)" "32" "0000403912" "00015934" "90" "3875" "0" "3875" "0" "c.3875G>A" "r.(?)" "p.(Arg1292Gln)" "32" "0000403913" "00015934" "90" "3875" "0" "3875" "0" "c.3875G>A" "r.(?)" "p.(Arg1292Gln)" "32" "0000403914" "00015934" "10" "-19" "-60" "-19" "-60" "c.-19-60G>A" "r.(?)" "p.(=)" "1i" "0000403915" "00015934" "10" "313" "-42" "313" "-42" "c.313-42G>A" "r.(?)" "p.(=)" "3i" "0000403916" "00015934" "10" "372" "0" "372" "0" "c.372A>G" "r.(?)" "p.(=)" "4" "0000403917" "00015934" "10" "1057" "78" "1057" "78" "c.1057+78del" "r.(=)" "p.(=)" "10i" "0000403918" "00015934" "10" "2407" "-12" "2407" "-12" "c.2407-12G>A" "r.(?)" "p.(=)" "21i" "0000403919" "00015934" "10" "3190" "-24" "3190" "-24" "c.3190-24G>T" "r.(?)" "p.(=)" "27i" "0000403920" "00015934" "10" "3372" "48" "3372" "48" "c.3372+48A>C" "r.(?)" "p.(=)" "29i" "0000403921" "00015934" "10" "400" "-47" "400" "-47" "c.400-47T>C" "r.(?)" "p.(=)" "4i" "0000403922" "00015934" "10" "498" "-132" "498" "-132" "c.498-132A>G" "r.(?)" "p.(=)" "5i" "0000403923" "00015934" "10" "-19" "-4" "-19" "-4" "c.-19-4T>A" "r.spl?" "p.?" "1i" "0000403924" "00015934" "10" "2736" "0" "2736" "0" "c.2736C>T" "r.spl?" "p.(Asn912=)" "24" "0000403925" "00015934" "10" "3309" "15" "3309" "15" "c.3309+15A>G" "r.(?)" "p.(=)" "28i" "0000403926" "00015934" "10" "4257" "0" "4257" "0" "c.4257C>T" "r.(?)" "p.(=)" "34" "0000403952" "00015934" "50" "-19" "-60" "-19" "-60" "c.-19-60G>A" "r.(?)" "p.(=)" "1i" "0000403953" "00015934" "50" "313" "-42" "313" "-42" "c.313-42G>A" "r.(?)" "p.(=)" "3i" "0000403954" "00015934" "50" "372" "0" "372" "0" "c.372A>G" "r.(?)" "p.(=)" "4" "0000403955" "00015934" "50" "1057" "78" "1057" "78" "c.1057+78del" "r.(=)" "p.(=)" "10i" "0000403956" "00015934" "50" "2407" "-12" "2407" "-12" "c.2407-12G>A" "r.(?)" "p.(=)" "21i" "0000403957" "00015934" "50" "3190" "-24" "3190" "-24" "c.3190-24G>T" "r.(?)" "p.(=)" "27i" "0000403958" "00015934" "50" "3372" "48" "3372" "48" "c.3372+48A>C" "r.(?)" "p.(=)" "29i" "0000403959" "00015934" "90" "3875" "0" "3875" "0" "c.3875G>A" "r.3875g>a" "p.Arg1292Gln" "32" "0000679800" "00015934" "30" "3821" "0" "3821" "0" "c.3821T>C" "r.(?)" "p.(Ile1274Thr)" "" "0000980670" "00015934" "50" "1584" "0" "1584" "0" "c.1584A>G" "r.(?)" "p.(=)" "" "0001054653" "00015934" "50" "378" "0" "378" "0" "c.378T>C" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000180426" "0000403910" "0000180427" "0000403911" "0000180428" "0000403912" "0000180429" "0000403913" "0000180430" "0000403914" "0000180431" "0000403915" "0000180432" "0000403916" "0000180433" "0000403917" "0000180434" "0000403918" "0000180435" "0000403919" "0000180436" "0000403920" "0000180437" "0000403921" "0000180438" "0000403922" "0000180439" "0000403923" "0000180440" "0000403924" "0000180441" "0000403925" "0000180442" "0000403926"