### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PEX13) # 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}}" "PEX13" "peroxisomal biogenesis factor 13" "2" "p16.1" "unknown" "NG_008665.1" "UD_132084497213" "" "https://www.LOVD.nl/PEX13" "" "1" "8855" "5194" "601789" "1" "1" "1" "1" " This database is one of the dbPEX gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PEX13_codingDNA.html" "1" "" " This database is one of the dbPEX gene variant databases.\r\n
\r\n
" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-09-10 16:28:42" "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}}" "00015994" "PEX13" "peroxisomal biogenesis factor 13" "001" "NM_002618.3" "" "NP_002609.1" "" "" "" "-83" "4432" "1212" "61244812" "61279125" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03775" "PBD11A" "peroxisome biogenesis disorder, type 11A (PBD-11A)" "AR" "614883" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03776" "PBD11B" "peroxisome biogenesis disorder, type 11B (PBD-11B)" "AR" "614885" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05079" "PBD" "peroxisome biogenesis disorder (Zellweger syndrome)" "PG" "" "" "" "" "00006" "2015-09-25 13:40:55" "00006" "2021-12-10 21:51:32" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "PEX13" "00139" "PEX13" "03775" "PEX13" "03776" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00309923" "" "" "" "1" "" "02015" "{PMID:Shimozawa 1999:10332040}, {PMID:Shimozawa 1998:9480815}" "" "" "" "Japan" "" "0" "" "" "" "H-01" "00309924" "" "" "" "1" "" "02015" "{PMID:Shimozawa 1999:10332040}" "" "" "" "" "" "0" "" "" "" "H-02" "00309925" "" "" "" "1" "" "02015" "{PMID:Krause 2006:17041890}" "" "F" "" "Turkey" "" "0" "" "" "" "PBD-HR11" "00309926" "" "" "" "1" "" "02015" "{PMID:Al-Dirbashi:19449432}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Pat2" "00309927" "" "" "" "1" "" "02015" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00309928" "" "" "" "1" "" "02015" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00309929" "" "" "" "1" "" "02015" "{PMID:Ebberink 2011:21031596}" "2 patients" "" "" "" "" "0" "" "" "" "" "00309930" "" "" "" "1" "" "02015" "{PMID:Ebberink 2011:21031596}" "" "" "" "" "" "0" "" "" "" "" "00309931" "" "" "" "1" "" "00006" "{PMID:Al-Dirbashi:19449432}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "Pat1" "00358887" "" "" "" "1" "" "03566" "" "" "" "" "" "" "" "" "" "" "pex13" "00438586" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0035" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00309923" "05079" "00309924" "05079" "00309925" "05079" "00309926" "05079" "00309927" "05079" "00309928" "05079" "00309929" "05079" "00309930" "05079" "00309931" "05079" "00358887" "00198" "00438586" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03775, 03776, 05079, 06906 ## Count = 11 "{{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}}" "0000235237" "05079" "00309923" "00006" "Familial, autosomal recessive" "" "see paper; ..., relatively mild phenotype, neonatal adrenoleukodys- trophy" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235238" "05079" "00309924" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235239" "05079" "00309925" "00006" "Familial, autosomal recessive" "02y07m" "see paper; ..., cerebral hypotonia, cataract; caudal neuropore, inverted nipples; progressive clinical course; 31m-died" "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235240" "05079" "00309926" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235241" "05079" "00309927" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235242" "05079" "00309928" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235243" "05079" "00309929" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235244" "05079" "00309930" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000235245" "05079" "00309931" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Zellweger syndrome" "" "0000254147" "00198" "00358887" "03566" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000328489" "06906" "00438586" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000311070" "00309923" "1" "02015" "00006" "2006-12-03 13:19:00" "00006" "2020-09-07 08:47:27" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311071" "00309924" "1" "02015" "00006" "2006-12-03 13:29:00" "00006" "2020-09-07 08:48:10" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311072" "00309925" "1" "02015" "00006" "2006-12-03 13:33:00" "00006" "2020-09-07 08:58:06" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000311073" "00309926" "1" "02015" "00006" "2010-08-16 14:08:21" "" "" "SEQ" "DNA" "" "" "0000311074" "00309927" "1" "02015" "00006" "2012-05-07 12:56:25" "" "" "SEQ" "DNA" "" "" "0000311075" "00309928" "1" "02015" "00006" "2012-05-07 13:01:35" "" "" "SEQ" "DNA" "" "" "0000311076" "00309929" "1" "02015" "00006" "2012-05-07 13:03:45" "" "" "SEQ" "DNA" "" "" "0000311077" "00309930" "1" "02015" "00006" "2012-05-07 13:06:53" "" "" "SEQ" "DNA" "" "" "0000311078" "00309931" "1" "00006" "00006" "2020-09-07 09:03:46" "" "" "PCR;SEQ" "DNA" "" "" "0000360120" "00358887" "1" "03566" "03566" "2021-03-17 07:26:35" "00006" "2023-12-01 12:39:32" "SEQ" "DNA" "" "" "0000440068" "00438586" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000311070" "PEX13" "0000311071" "PEX13" "0000311072" "PEX13" "0000311073" "PEX13" "0000311074" "PEX13" "0000311075" "PEX13" "0000311076" "PEX13" "0000311077" "PEX13" "0000311078" "PEX13" ## 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 = 25 "{{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}}" "0000305484" "0" "50" "2" "61258816" "61258816" "subst" "0.00168213" "01943" "PEX13_000013" "g.61258816G>A" "" "" "" "PEX13(NM_002618.3):c.355G>A (p.V119I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61031681G>A" "" "VUS" "" "0000327023" "0" "30" "2" "61244926" "61244926" "subst" "0.000138021" "01804" "PEX13_000012" "g.61244926C>T" "" "" "" "PEX13(NM_002618.3):c.32C>T (p.P11L, p.(Pro11Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.61017791C>T" "" "likely benign" "" "0000516514" "0" "90" "2" "61244904" "61244904" "subst" "0" "02326" "PEX13_000014" "g.61244904C>T" "" "" "" "PEX13(NM_002618.4):c.10C>T (p.Q4*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61017769C>T" "" "pathogenic" "" "0000654702" "0" "50" "2" "61259060" "61259060" "subst" "2.84324E-5" "02327" "PEX13_000016" "g.61259060G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.61031925G>A" "" "VUS" "" "0000676694" "0" "30" "2" "61275783" "61275783" "subst" "7.30959E-5" "01943" "PEX13_000017" "g.61275783G>A" "" "" "" "PEX13(NM_002618.3):c.1090G>A (p.A364T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000686359" "3" "90" "2" "61275670" "61275670" "subst" "4.06108E-6" "02015" "PEX13_000001" "g.61275670T>C" "" "{PMID:Shimozawa 1999:10332040}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686360" "3" "90" "2" "61259163" "61259163" "subst" "0" "02015" "PEX13_000002" "g.61259163G>A" "" "{PMID:Shimozawa 1999:10332040}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686361" "3" "90" "2" "61275630" "61275630" "subst" "0" "02015" "PEX13_000003" "g.61275630T>G" "" "{PMID:Krause 2006:17041890}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686362" "3" "90" "2" "61258568" "61258581" "del" "0" "02015" "PEX13_000004" "g.61258568_61258581del" "" "{PMID:Al-Dirbashi:19449432}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686363" "3" "90" "2" "61244988" "61244988" "subst" "0" "02015" "PEX13_000005" "g.61244988T>G" "" "{PMID:Ebberink 2011:21031596}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686364" "3" "90" "2" "61258900" "61258902" "del" "0" "02015" "PEX13_000006" "g.61258900_61258902del" "" "{PMID:Ebberink 2011:21031596}" "" "439_441delATG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686365" "3" "90" "2" "61259137" "61259137" "subst" "4.06693E-6" "02015" "PEX13_000007" "g.61259137C>T" "" "{PMID:Ebberink 2011:21031596}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686366" "3" "90" "2" "61275673" "61275673" "subst" "0" "02015" "PEX13_000008" "g.61275673C>G" "" "{PMID:Ebberink 2011:21031596}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686367" "3" "90" "2" "61174775" "61322083" "del" "0" "00006" "PEX13_000018" "g.61174775_61322083del" "" "{PMID:Al-Dirbashi:19449432}" "" "PEZ13_000009" "147.308 kb deletion starting 70.094 kb upstream (incl. exons of FLJ32312), ending 45.692 kb downstream of PEX13 (incl. exons of KIAA1841 gene)" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000718915" "0" "50" "2" "61244926" "61244926" "subst" "0.000138021" "01943" "PEX13_000012" "g.61244926C>T" "" "" "" "PEX13(NM_002618.3):c.32C>T (p.P11L, p.(Pro11Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718916" "0" "50" "2" "61258603" "61258603" "subst" "0.000235625" "01943" "PEX13_000019" "g.61258603C>T" "" "" "" "PEX13(NM_002618.3):c.142C>T (p.L48F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000759818" "0" "90" "2" "61244895" "61244895" "subst" "6.92032E-6" "03566" "PEX13_000021" "g.61244895A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.61017760A>G" "" "pathogenic" "" "0000829418" "0" "50" "2" "27600408" "62081181" "dup" "0" "00000" "FSHR_000025" "g.27600408_62081181dup" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:27600408–62081181" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000936509" "0" "50" "2" "60320001" "62035000" "dup" "0" "00006" "PEX13_000020" "g.60320001_62035000dup" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.60092866_61807865dup" "" "VUS" "" "0000975388" "0" "50" "2" "61244983" "61244983" "subst" "0.000527331" "01804" "PEX13_000022" "g.61244983T>C" "" "" "" "PEX13(NM_002618.4):c.89T>C (p.(Phe30Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975389" "0" "50" "2" "61258844" "61258844" "subst" "0.000333165" "01804" "PEX13_000023" "g.61258844G>T" "" "" "" "PEX13(NM_002618.4):c.383G>T (p.(Gly128Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013778" "0" "70" "2" "61272948" "61272948" "subst" "0" "02327" "PEX13_000024" "g.61272948C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001013779" "0" "90" "2" "61275670" "61275670" "subst" "4.06108E-6" "02327" "PEX13_000001" "g.61275670T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033428" "0" "90" "2" "61258757" "61258757" "del" "0" "02325" "PEX13_000025" "g.61258757del" "" "" "" "PEX13(NM_002618.4):c.296delG (p.G99Dfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033429" "0" "50" "2" "61259027" "61259027" "subst" "0.000117799" "01804" "PEX13_000026" "g.61259027G>T" "" "" "" "PEX13(NM_002618.4):c.566G>T (p.(Arg189Leu))" "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 PEX13 ## Count = 25 "{{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}}" "0000305484" "00015994" "50" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Val119Ile)" "" "0000327023" "00015994" "30" "32" "0" "32" "0" "c.32C>T" "r.(?)" "p.(Pro11Leu)" "" "0000516514" "00015994" "90" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Gln4Ter)" "" "0000654702" "00015994" "50" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.(Gly200Asp)" "" "0000676694" "00015994" "30" "1090" "0" "1090" "0" "c.1090G>A" "r.(?)" "p.(Ala364Thr)" "" "0000686359" "00015994" "90" "977" "0" "977" "0" "c.977T>C" "r.977u>c" "p.Ile326Thr" "" "0000686360" "00015994" "90" "702" "0" "702" "0" "c.702G>A" "r.702g>a" "p.Trp234*" "" "0000686361" "00015994" "90" "937" "0" "937" "0" "c.937T>G" "r.937u>g" "p.Trp313Gly" "" "0000686362" "00015994" "90" "107" "0" "120" "0" "c.107_120del" "r.(?)" "p.(Gly36Aspfs*26)" "" "0000686363" "00015994" "90" "92" "2" "92" "2" "c.92+2T>G" "r.spl" "p.?" "" "0000686364" "00015994" "90" "439" "0" "441" "0" "c.439_441del" "r.(?)" "p.(Met147del)" "" "0000686365" "00015994" "90" "676" "0" "676" "0" "c.676C>T" "r.(?)" "p.(Arg226*)" "" "0000686366" "00015994" "90" "980" "0" "980" "0" "c.980C>G" "r.(?)" "p.(Pro327Arg)" "" "0000686367" "00015994" "90" "0" "0" "0" "0" "c.-83_*3220[0]" "r.0" "p.0" "_1_4_" "0000718915" "00015994" "50" "32" "0" "32" "0" "c.32C>T" "r.(?)" "p.(Pro11Leu)" "" "0000718916" "00015994" "50" "142" "0" "142" "0" "c.142C>T" "r.(?)" "p.(Leu48Phe)" "" "0000759818" "00015994" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000829418" "00015994" "50" "-8388608" "0" "806488" "0" "c.-33644487_*805276dup" "r.0?" "p.0?" "" "0000936509" "00015994" "50" "0" "0" "0" "0" "c.-83_*3220{2}" "r.?" "p.?" "_1_4_" "0000975388" "00015994" "50" "89" "0" "89" "0" "c.89T>C" "r.(?)" "p.(Phe30Ser)" "" "0000975389" "00015994" "50" "383" "0" "383" "0" "c.383G>T" "r.(?)" "p.(Gly128Val)" "" "0001013778" "00015994" "70" "875" "0" "875" "0" "c.875C>A" "r.(?)" "p.(Ser292Tyr)" "" "0001013779" "00015994" "90" "977" "0" "977" "0" "c.977T>C" "r.(?)" "p.(Ile326Thr)" "" "0001033428" "00015994" "90" "296" "0" "296" "0" "c.296del" "r.(?)" "p.(Gly99Aspfs*12)" "" "0001033429" "00015994" "50" "566" "0" "566" "0" "c.566G>T" "r.(?)" "p.(Arg189Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000311070" "0000686359" "0000311071" "0000686360" "0000311072" "0000686361" "0000311073" "0000686362" "0000311074" "0000686363" "0000311075" "0000686364" "0000311076" "0000686365" "0000311077" "0000686366" "0000311078" "0000686367" "0000360120" "0000759818" "0000440068" "0000936509"