### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ABCA13) # 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}}" "ABCA13" "ATP-binding cassette, sub-family A (ABC1), member 13" "7" "p12.3" "unknown" "NG_012385.2" "UD_132118759545" "" "https://www.LOVD.nl/ABCA13" "" "1" "14638" "154664" "607807" "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/ABCA13_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2007-04-25 00:00:00" "00006" "2017-07-30 11:57:01" "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}}" "00001856" "ABCA13" "ATP-binding cassette, sub-family A (ABC1), member 13" "001" "NM_152701.3" "" "NP_689914.2" "" "" "" "-24" "17160" "15177" "48211057" "48687091" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00212" "SCZD" "schizophrenia (SCZD)" "AD" "181500" "" "" "" "00006" "2013-09-24 21:08:12" "00006" "2021-12-10 21:51:32" "00291" "ADHD" "attention deficit-hyperactivity disorder (ADHD)" "AD" "143465" "" "" "" "00006" "2013-12-20 10:47:26" "00006" "2021-12-10 21:51:32" "05309" "MAFD" "major affective disorder (MAFD, bipolar affective disorder, manic-depressive psychosis)" "" "125480" "" "" "" "00006" "2017-07-24 11:27:53" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 77 "{{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}}" "00110432" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110433" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110434" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110435" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110436" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110437" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110438" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110439" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110440" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110441" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110442" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110443" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110444" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110445" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110446" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110447" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110448" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110449" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110450" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110451" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110452" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110453" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110454" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110455" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110456" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110457" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110458" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110460" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110461" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110462" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110463" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110464" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110465" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110466" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110467" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110468" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110469" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110470" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110471" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110472" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "2-generation family, 4 affecteds" "" "" "" "" "0" "" "" "" "" "00110473" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110474" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110475" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110476" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110477" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110478" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110479" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110480" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110481" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110482" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110483" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110484" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110485" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110486" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110487" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110488" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110489" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110490" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110491" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110492" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110493" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110494" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110495" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110496" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110497" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110498" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110499" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110500" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110501" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110502" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110503" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110504" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110505" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110506" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00110507" "" "" "" "1" "" "00006" "{PMID:Knight 2009:19944402}" "" "" "" "" "" "0" "" "" "" "" "00183062" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "F" "" "Netherlands" "" "0" "" "" "" "23033978-Trio59" "00466042" "" "" "" "1" "" "04866" "" "" "M" "" "Hong Kong" "" "" "" "" "Chinese" "275C" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 77 "{{individualid}}" "{{diseaseid}}" "00110432" "05309" "00110433" "05309" "00110434" "05309" "00110435" "05309" "00110436" "05309" "00110437" "05309" "00110438" "00198" "00110439" "00198" "00110440" "00198" "00110441" "00198" "00110442" "00198" "00110443" "00198" "00110444" "00198" "00110445" "00198" "00110446" "00198" "00110447" "00198" "00110448" "00198" "00110449" "00198" "00110450" "00198" "00110451" "00198" "00110452" "00198" "00110453" "00198" "00110454" "00198" "00110455" "00198" "00110456" "00198" "00110457" "00198" "00110458" "00198" "00110460" "00198" "00110461" "00198" "00110462" "00198" "00110463" "00198" "00110464" "00198" "00110465" "00198" "00110466" "00198" "00110467" "00198" "00110468" "00198" "00110469" "00198" "00110470" "00198" "00110471" "00198" "00110472" "05309" "00110473" "05309" "00110474" "05309" "00110475" "05309" "00110476" "05309" "00110477" "05309" "00110478" "00212" "00110479" "00212" "00110480" "00212" "00110481" "00212" "00110482" "00212" "00110483" "00212" "00110484" "00212" "00110485" "00212" "00110486" "00212" "00110487" "00212" "00110488" "00212" "00110489" "00212" "00110490" "00212" "00110491" "00212" "00110492" "00212" "00110493" "00212" "00110494" "00212" "00110495" "00212" "00110496" "00212" "00110497" "00212" "00110498" "00212" "00110499" "00212" "00110500" "00212" "00110501" "00212" "00110502" "00212" "00110503" "00212" "00110504" "00212" "00110505" "00212" "00110506" "00212" "00110507" "00212" "00183062" "00139" "00466042" "00291" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00212, 00291, 05309 ## Count = 44 "{{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}}" "0000087089" "00212" "00110478" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087090" "00212" "00110479" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087091" "00212" "00110480" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087092" "00212" "00110481" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087093" "00212" "00110482" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087094" "00212" "00110483" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087095" "00212" "00110484" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087096" "00212" "00110485" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087097" "00212" "00110486" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087098" "00212" "00110487" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087099" "00212" "00110488" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087100" "00212" "00110489" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087101" "00212" "00110490" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087102" "00212" "00110491" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087103" "00212" "00110492" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087104" "05309" "00110432" "00006" "-" "" "BP" "" "" "" "" "" "" "" "" "" "" "" "0000087105" "05309" "00110473" "00006" "-" "" "MDD" "" "" "" "" "" "" "" "" "" "" "" "0000087106" "00212" "00110493" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087107" "00212" "00110494" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087108" "00212" "00110495" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087109" "00212" "00110496" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087110" "05309" "00110472" "00006" "-" "" "BP;MDD;SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087111" "00212" "00110497" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087112" "00212" "00110498" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087113" "05309" "00110433" "00006" "-" "" "BP" "" "" "" "" "" "" "" "" "" "" "" "0000087114" "00212" "00110499" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087115" "00212" "00110500" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087116" "05309" "00110434" "00006" "-" "" "BP" "" "" "" "" "" "" "" "" "" "" "" "0000087117" "05309" "00110474" "00006" "-" "" "MDD" "" "" "" "" "" "" "" "" "" "" "" "0000087118" "00212" "00110501" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087119" "05309" "00110435" "00006" "-" "" "BP" "" "" "" "" "" "" "" "" "" "" "" "0000087120" "05309" "00110475" "00006" "-" "" "MDD" "" "" "" "" "" "" "" "" "" "" "" "0000087121" "00212" "00110502" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087122" "00212" "00110503" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087123" "05309" "00110436" "00006" "-" "" "BP" "" "" "" "" "" "" "" "" "" "" "" "0000087124" "05309" "00110476" "00006" "-" "" "MDD" "" "" "" "" "" "" "" "" "" "" "" "0000087125" "00212" "00110504" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087126" "00212" "00110505" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087127" "05309" "00110437" "00006" "-" "" "BP" "" "" "" "" "" "" "" "" "" "" "" "0000087128" "05309" "00110477" "00006" "-" "" "MDD" "" "" "" "" "" "" "" "" "" "" "" "0000087129" "00212" "00110506" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000087130" "00212" "00110507" "00006" "-" "" "SCZ" "" "" "" "" "" "" "" "" "" "" "" "0000143815" "00139" "00183062" "00006" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000351426" "00291" "00466042" "04866" "Unknown" "6y-15y" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 77 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000110899" "00110457" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110900" "00110458" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110901" "00110472" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110902" "00110497" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110903" "00110454" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110904" "00110455" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110905" "00110432" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110906" "00110473" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110907" "00110493" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110908" "00110494" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110909" "00110495" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110910" "00110456" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110911" "00110496" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110912" "00110460" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110913" "00110498" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110914" "00110446" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110915" "00110486" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110916" "00110478" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110917" "00110451" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110918" "00110492" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110919" "00110490" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110920" "00110491" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110921" "00110441" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110922" "00110452" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110923" "00110487" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110924" "00110447" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110925" "00110488" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110926" "00110433" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110927" "00110499" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110928" "00110442" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110929" "00110483" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110930" "00110443" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110931" "00110484" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110932" "00110453" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110933" "00110461" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110934" "00110500" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110935" "00110448" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110936" "00110489" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110937" "00110439" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110938" "00110481" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110939" "00110465" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110940" "00110466" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110941" "00110435" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110942" "00110475" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110943" "00110502" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110944" "00110503" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110945" "00110462" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110946" "00110463" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110947" "00110464" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110948" "00110434" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110949" "00110474" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110950" "00110501" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110951" "00110444" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110952" "00110485" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110953" "00110445" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110954" "00110467" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110955" "00110438" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110956" "00110479" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110957" "00110468" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110958" "00110469" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110959" "00110436" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110960" "00110476" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110961" "00110504" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110962" "00110505" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110963" "00110449" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110964" "00110450" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110965" "00110480" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110966" "00110470" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110967" "00110471" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110968" "00110437" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110969" "00110477" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110970" "00110506" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110971" "00110507" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110972" "00110440" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000110973" "00110482" "1" "00006" "00006" "2010-01-05 21:11:59" "" "" "SEQ" "DNA" "" "" "0000184022" "00183062" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467695" "00466042" "1" "04866" "04866" "2025-07-13 11:02:05" "04866" "2025-08-18 09:24:08" "MS;SEQ-NG-I" "DNA" "blood" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 75 "{{screeningid}}" "{{geneid}}" "0000110899" "ABCA13" "0000110900" "ABCA13" "0000110901" "ABCA13" "0000110902" "ABCA13" "0000110903" "ABCA13" "0000110904" "ABCA13" "0000110905" "ABCA13" "0000110906" "ABCA13" "0000110907" "ABCA13" "0000110908" "ABCA13" "0000110909" "ABCA13" "0000110910" "ABCA13" "0000110911" "ABCA13" "0000110912" "ABCA13" "0000110913" "ABCA13" "0000110914" "ABCA13" "0000110915" "ABCA13" "0000110916" "ABCA13" "0000110917" "ABCA13" "0000110918" "ABCA13" "0000110919" "ABCA13" "0000110920" "ABCA13" "0000110921" "ABCA13" "0000110922" "ABCA13" "0000110923" "ABCA13" "0000110924" "ABCA13" "0000110925" "ABCA13" "0000110926" "ABCA13" "0000110927" "ABCA13" "0000110928" "ABCA13" "0000110929" "ABCA13" "0000110930" "ABCA13" "0000110931" "ABCA13" "0000110932" "ABCA13" "0000110933" "ABCA13" "0000110934" "ABCA13" "0000110935" "ABCA13" "0000110936" "ABCA13" "0000110937" "ABCA13" "0000110938" "ABCA13" "0000110939" "ABCA13" "0000110940" "ABCA13" "0000110941" "ABCA13" "0000110942" "ABCA13" "0000110943" "ABCA13" "0000110944" "ABCA13" "0000110945" "ABCA13" "0000110946" "ABCA13" "0000110947" "ABCA13" "0000110948" "ABCA13" "0000110949" "ABCA13" "0000110950" "ABCA13" "0000110951" "ABCA13" "0000110952" "ABCA13" "0000110953" "ABCA13" "0000110954" "ABCA13" "0000110955" "ABCA13" "0000110956" "ABCA13" "0000110957" "ABCA13" "0000110958" "ABCA13" "0000110959" "ABCA13" "0000110960" "ABCA13" "0000110961" "ABCA13" "0000110962" "ABCA13" "0000110963" "ABCA13" "0000110964" "ABCA13" "0000110965" "ABCA13" "0000110966" "ABCA13" "0000110967" "ABCA13" "0000110968" "ABCA13" "0000110969" "ABCA13" "0000110970" "ABCA13" "0000110971" "ABCA13" "0000110972" "ABCA13" "0000110973" "ABCA13" ## 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 = 134 "{{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}}" "0000177881" "0" "10" "7" "48634295" "48634295" "subst" "0.113645" "00006" "ABCA13_000032" "g.48634295C>A" "0.0789" "{PMID:Knight 2009:19944402}" "" "hg18 48,604,841C>A" "" "Germline" "" "" "0" "" "" "g.48594699C>A" "" "benign" "" "0000177882" "0" "10" "7" "48634295" "48634295" "subst" "0.113645" "00006" "ABCA13_000032" "g.48634295C>A" "0.0519" "{PMID:Knight 2009:19944402}" "" "hg18 48,604,841C>A" "" "Germline" "" "" "0" "" "" "g.48594699C>A" "" "benign" "" "0000177883" "0" "30" "7" "48411791" "48411791" "subst" "8.17448E-6" "00006" "ABCA13_000003" "g.48411791A>C" "0.0096" "{PMID:Knight 2009:19944402}" "" "hg18 48,382,337A>C" "not found in controls; synonymous" "Germline" "" "" "0" "" "" "g.48372194A>C" "" "likely benign" "" "0000177884" "0" "30" "7" "48411791" "48411791" "subst" "0" "00006" "ABCA13_000004" "g.48411791A>T" "0.0037" "{PMID:Knight 2009:19944402}" "" "hg18 48,382,337A>T" "synonymous" "Germline" "" "" "0" "" "" "g.48372194A>T" "" "likely benign" "" "0000177885" "0" "30" "7" "48411791" "48411791" "subst" "0" "00006" "ABCA13_000004" "g.48411791A>T" "0.0048" "{PMID:Knight 2009:19944402}" "" "hg18 48,382,337A>T" "synonymous" "Germline" "" "" "0" "" "" "g.48372194A>T" "" "likely benign" "" "0000177886" "0" "30" "7" "48413818" "48413818" "subst" "0" "00006" "ABCA13_000006" "g.48413818C>T" "0.0160" "{PMID:Knight 2009:19944402}" "" "hg18 48,384,364C>T" "" "Germline" "" "" "0" "" "" "g.48374221C>T" "" "likely benign" "" "0000177887" "0" "30" "7" "48413818" "48413818" "subst" "0" "00006" "ABCA13_000006" "g.48413818C>T" "0.0095" "{PMID:Knight 2009:19944402}" "" "hg18 48,384,364C>T" "" "Germline" "" "" "0" "" "" "g.48374221C>T" "" "likely benign" "" "0000177888" "0" "30" "7" "48413928" "48413928" "subst" "8.65584E-6" "00006" "ABCA13_000007" "g.48413928A>G" "0.0045" "{PMID:Knight 2009:19944402}" "" "hg18 48,384,474A>G" "not found in controls" "Germline" "" "" "0" "" "" "g.48374331A>G" "" "likely benign" "" "0000177889" "0" "30" "7" "48414077" "48414077" "subst" "0" "00006" "ABCA13_000008" "g.48414077T>C" "0.0053" "{PMID:Knight 2009:19944402}" "" "hg18 48,384,623T>C" "" "Germline" "" "" "0" "" "" "g.48374480T>C" "" "likely benign" "" "0000177890" "0" "30" "7" "48414077" "48414077" "subst" "0" "00006" "ABCA13_000008" "g.48414077T>C" "0.0048" "{PMID:Knight 2009:19944402}" "" "hg18 48,384,623T>C" "" "Germline" "" "" "0" "" "" "g.48374480T>C" "" "likely benign" "" "0000177891" "0" "30" "7" "48427610" "48427610" "subst" "0" "00006" "ABCA13_000009" "g.48427610G>A" "0.0523" "{PMID:Knight 2009:19944402}" "" "hg18 48,398,156G>A" "not analysed in controls" "Germline" "" "" "0" "" "" "g.48388013G>A" "" "likely benign" "" "0000177892" "0" "30" "7" "48427686" "48427686" "subst" "0" "00006" "ABCA13_000010" "g.48427686G>C" "0.0048" "{PMID:Knight 2009:19944402}" "" "hg18 48,398,232G>C" "not analysed in controls" "Germline" "" "" "0" "" "" "g.48388089G>C" "" "likely benign" "" "0000177893" "0" "30" "7" "48428746" "48428746" "subst" "0" "00006" "ABCA13_000011" "g.48428746C>G" "0.0052" "{PMID:Knight 2009:19944402}" "" "hg18 48,399,292C>G" "not found in cases;synonymous" "Germline" "" "" "0" "" "" "g.48389149C>G" "" "likely benign" "" "0000177894" "0" "30" "7" "48428776" "48428776" "subst" "0.00054499" "00006" "ABCA13_000012" "g.48428776C>T" "0.0052" "{PMID:Knight 2009:19944402}" "" "hg18 48,399,322T>C" "not found in cases" "Germline" "" "" "0" "" "" "g.48389179C>T" "" "likely benign" "" "0000177895" "0" "30" "7" "48443192" "48443192" "subst" "0" "00006" "ABCA13_000013" "g.48443192C>T" "0.0092" "{PMID:Knight 2009:19944402}" "" "hg18 48,413,738C>T" "not analysed in controls" "Germline" "" "" "0" "" "" "g.48403595C>T" "" "likely benign" "" "0000177896" "0" "30" "7" "48450097" "48450097" "subst" "0.207294" "00006" "ABCA13_000014" "g.48450097C>T" "0.2067" "{PMID:Knight 2009:19944402}" "" "hg18 48,420,643C>T" "" "Germline" "" "" "0" "" "" "g.48410500C>T" "" "likely benign" "" "0000177897" "0" "30" "7" "48450097" "48450097" "subst" "0.207294" "00006" "ABCA13_000014" "g.48450097C>T" "0.1651" "{PMID:Knight 2009:19944402}" "" "hg18 48,420,643C>T" "" "Germline" "" "" "0" "" "" "g.48410500C>T" "" "likely benign" "" "0000177898" "0" "30" "7" "48450185" "48450185" "subst" "0.0119091" "00006" "ABCA13_000016" "g.48450185C>G" "0.0104" "{PMID:Knight 2009:19944402}" "" "hg18 48,420,731C>G" "" "Germline" "" "" "0" "" "" "g.48410588C>G" "" "likely benign" "" "0000177899" "0" "30" "7" "48450185" "48450185" "subst" "0.0119091" "00006" "ABCA13_000016" "g.48450185C>G" "0.0169" "{PMID:Knight 2009:19944402}" "" "hg18 48,420,731C>G" "" "Germline" "" "" "0" "" "" "g.48410588C>G" "" "likely benign" "" "0000177900" "0" "30" "7" "48450288" "48450288" "subst" "0" "00006" "ABCA13_000017" "g.48450288C>G" "0.2067" "{PMID:Knight 2009:19944402}" "" "hg18 48,420,834C>G" "" "Germline" "" "" "0" "" "" "g.48410691C>G" "" "likely benign" "" "0000177901" "0" "30" "7" "48450288" "48450288" "subst" "0" "00006" "ABCA13_000017" "g.48450288C>G" "0.1651" "{PMID:Knight 2009:19944402}" "" "hg18 48,420,834C>G" "" "Germline" "" "" "0" "" "" "g.48410691C>G" "" "likely benign" "" "0000177902" "0" "30" "7" "48494848" "48494848" "subst" "0" "00006" "ABCA13_000018" "g.48494848T>C" "0.0052" "{PMID:Knight 2009:19944402}" "" "hg18 48,465,394T>C" "not found in cases;synonymous" "Germline" "" "" "0" "" "" "g.48455251T>C" "" "likely benign" "" "0000177903" "0" "30" "7" "48547481" "48547481" "subst" "0.00468318" "00006" "ABCA13_000020" "g.48547481C>T" "0.0156" "{PMID:Knight 2009:19944402}" "" "hg18 48,518,027C>T" "" "Germline" "" "" "0" "" "" "g.48507885C>T" "" "likely benign" "" "0000177904" "0" "30" "7" "48547481" "48547481" "subst" "0.00468318" "00006" "ABCA13_000020" "g.48547481C>T" "0.0142" "{PMID:Knight 2009:19944402}" "" "hg18 48,518,027C>T" "" "Germline" "" "" "0" "" "" "g.48507885C>T" "" "likely benign" "" "0000177905" "0" "30" "7" "48547511" "48547511" "subst" "0.00866156" "00006" "ABCA13_000021" "g.48547511C>A" "0.0208" "{PMID:Knight 2009:19944402}" "" "hg18 48,518,057C>A" "" "Germline" "" "" "0" "" "" "g.48507915C>A" "" "likely benign" "" "0000177906" "0" "30" "7" "48547511" "48547511" "subst" "0.00866156" "00006" "ABCA13_000021" "g.48547511C>A" "0.0095" "{PMID:Knight 2009:19944402}" "" "hg18 48,518,057C>A" "" "Germline" "" "" "0" "" "" "g.48507915C>A" "" "likely benign" "" "0000177907" "0" "30" "7" "48556566" "48556566" "subst" "0" "00006" "ABCA13_000024" "g.48556566C>G" "0.0161" "{PMID:Knight 2009:19944402}" "" "hg18 48,527,112C>G" "" "Germline" "" "" "0" "" "" "g.48516970C>G" "" "likely benign" "" "0000177908" "0" "30" "7" "48556566" "48556566" "subst" "0" "00006" "ABCA13_000024" "g.48556566C>G" "0.0286" "{PMID:Knight 2009:19944402}" "" "hg18 48,527,112C>G" "" "Germline" "" "" "0" "" "" "g.48516970C>G" "" "likely benign" "" "0000177909" "0" "30" "7" "48559781" "48559781" "subst" "0" "00006" "ABCA13_000025" "g.48559781C>G" "0.0004" "{PMID:Knight 2009:19944402}" "" "hg18 48,530,327C>G" "not found in cases" "Germline" "" "" "0" "" "" "g.48520185C>G" "" "likely benign" "" "0000177910" "0" "30" "7" "48559781" "48559781" "subst" "0" "00006" "ABCA13_000025" "g.48559781C>G" "" "{PMID:Knight 2009:19944402}" "" "hg18 48,530,327C>G" "0/1488 cases (869 SCZ, 619 BP), 0/959 controls; conserved amino acid" "Germline" "" "" "0" "" "" "g.48520185C>G" "" "likely benign" "" "0000177911" "0" "30" "7" "48563913" "48563913" "subst" "0.0521535" "00006" "ABCA13_000026" "g.48563913A>G" "0.0526" "{PMID:Knight 2009:19944402}" "" "hg18 48,534,459A>G" "synonymous" "Germline" "" "" "0" "" "" "g.48524317A>G" "" "likely benign" "" "0000177912" "0" "30" "7" "48563913" "48563913" "subst" "0.0521535" "00006" "ABCA13_000026" "g.48563913A>G" "0.0500" "{PMID:Knight 2009:19944402}" "" "hg18 48,534,459A>G" "synonymous" "Germline" "" "" "0" "" "" "g.48524317A>G" "" "likely benign" "" "0000177913" "0" "30" "7" "48567998" "48567998" "subst" "0" "00006" "ABCA13_000028" "g.48567998C>T" "0.0153" "{PMID:Knight 2009:19944402}" "" "hg18 48,538,544C>T" "not found in cases" "Germline" "" "" "0" "" "" "g.48528402C>T" "" "likely benign" "" "0000177914" "0" "30" "7" "48567999" "48567999" "subst" "0" "00006" "ABCA13_000029" "g.48567999C>T" "0.0052" "{PMID:Knight 2009:19944402}" "" "hg18 48,538,545C>T" "not found in cases" "Germline" "" "" "0" "" "" "g.48528403C>T" "" "likely benign" "" "0000177915" "0" "30" "7" "48626765" "48626765" "subst" "0.00273387" "00006" "ABCA13_000030" "g.48626765A>G" "0.0040" "{PMID:Knight 2009:19944402}" "" "hg18 48,597,311A>G" "not found in controls" "Germline" "" "" "0" "" "" "g.48587169A>G" "" "likely benign" "" "0000177916" "0" "50" "7" "48556448" "48556448" "subst" "0.00138023" "00006" "ABCA13_000023" "g.48556448C>T" "0.0019" "{PMID:Knight 2009:19944402}" "" "hg18 48,526,994C>T" "" "Germline" "" "" "0" "" "" "g.48516852C>T" "" "VUS" "" "0000177917" "0" "50" "7" "48556448" "48556448" "subst" "0.00138023" "00006" "ABCA13_000023" "g.48556448C>T" "0.0019" "{PMID:Knight 2009:19944402}" "" "hg18 48,526,994C>T" "" "Germline" "" "" "0" "" "" "g.48516852C>T" "" "VUS" "" "0000177918" "0" "50" "7" "48556448" "48556448" "subst" "0.00138023" "00006" "ABCA13_000023" "g.48556448C>T" "4/971" "{PMID:Knight 2009:19944402}" "" "hg18 48,526,994C>T" "conserved amino acid" "Germline" "" "" "0" "" "" "g.48516852C>T" "" "VUS" "" "0000177919" "0" "50" "7" "48556448" "48556448" "subst" "0.00138023" "00006" "ABCA13_000023" "g.48556448C>T" "7/622" "{PMID:Knight 2009:19944402}" "" "hg18 48,526,994C>T" "conserved amino acid" "Germline" "" "" "0" "" "" "g.48516852C>T" "" "VUS" "" "0000177920" "0" "50" "7" "48556448" "48556448" "subst" "0.00138023" "00006" "ABCA13_000023" "g.48556448C>T" "4/350" "{PMID:Knight 2009:19944402}" "" "hg18 48,526,994C>T" "conserved amino acid" "Germline" "" "" "0" "" "" "g.48516852C>T" "" "VUS" "" "0000177921" "0" "50" "7" "48556448" "48556448" "subst" "0.00138023" "00006" "ABCA13_000023" "g.48556448C>T" "6/874" "{PMID:Knight 2009:19944402}" "" "hg18 48,526,994C>T" "conserved amino acid" "Germline" "" "" "0" "" "" "g.48516852C>T" "" "VUS" "" "0000177922" "0" "70" "7" "48411772" "48411772" "subst" "0.000410985" "00006" "ABCA13_000001" "g.48411772G>A" "1/951" "{PMID:Knight 2009:19944402}" "" "hg18 48,382,318G>A" "controls; 0/1666 cases (841 SCZ, 484 BP, 331 MDD); conserved amino acid" "Germline" "" "" "0" "" "" "g.48372175G>A" "" "likely pathogenic" "" "0000177923" "0" "70" "7" "48411772" "48411772" "subst" "0.000410985" "00006" "ABCA13_000001" "g.48411772G>A" "0.0005" "{PMID:Knight 2009:19944402}" "" "hg18 48,382,318G>A" "" "Germline" "" "" "0" "" "" "g.48372175G>A" "" "likely pathogenic" "" "0000177924" "0" "70" "7" "48411772" "48411772" "subst" "0.000410985" "00006" "ABCA13_000001" "g.48411772G>A" "" "{PMID:Knight 2009:19944402}" "" "hg18 48,382,318G>A" "" "Germline" "" "" "0" "" "" "g.48372175G>A" "" "likely pathogenic" "" "0000177925" "0" "70" "7" "48411772" "48411772" "subst" "0.000410985" "00006" "ABCA13_000001" "g.48411772G>A" "0.0003" "{PMID:Knight 2009:19944402}" "" "hg18 48,382,318G>A" "" "Germline" "" "" "0" "" "" "g.48372175G>A" "" "likely pathogenic" "" "0000177926" "0" "70" "7" "48411787" "48411787" "subst" "0.0107846" "00006" "ABCA13_000002" "g.48411787A>C" "0.0043" "{PMID:Knight 2009:19944402}" "" "hg18 48,382,333A>C" "" "Germline" "" "" "0" "" "" "g.48372190A>C" "" "likely pathogenic" "" "0000177927" "0" "70" "7" "48411787" "48411787" "subst" "0.0107846" "00006" "ABCA13_000002" "g.48411787A>C" "8/939" "{PMID:Knight 2009:19944402}" "" "hg18 48,382,333A>C" "conserved amino acid" "Germline" "" "" "0" "" "" "g.48372190A>C" "" "likely pathogenic" "" "0000177928" "0" "70" "7" "48411787" "48411787" "subst" "0.0107846" "00006" "ABCA13_000002" "g.48411787A>C" "10/488" "{PMID:Knight 2009:19944402}" "" "hg18 48,382,333A>C" "conserved amino acid" "Germline" "" "" "0" "" "" "g.48372190A>C" "" "likely pathogenic" "" "0000177929" "0" "70" "7" "48411787" "48411787" "subst" "0.0107846" "00006" "ABCA13_000002" "g.48411787A>C" "5/262" "{PMID:Knight 2009:19944402}" "" "hg18 48,382,333A>C" "conserved amino acid" "Germline" "" "" "0" "" "" "g.48372190A>C" "" "likely pathogenic" "" "0000177930" "0" "70" "7" "48411787" "48411787" "subst" "0.0107846" "00006" "ABCA13_000002" "g.48411787A>C" "0.0085" "{PMID:Knight 2009:19944402}" "" "hg18 48,382,333A>C" "" "Germline" "" "" "0" "" "" "g.48372190A>C" "" "likely pathogenic" "" "0000177931" "0" "70" "7" "48411787" "48411787" "subst" "0.0107846" "00006" "ABCA13_000002" "g.48411787A>C" "10/857" "{PMID:Knight 2009:19944402}" "" "hg18 48,382,333A>C" "conserved amino acid" "Germline" "" "" "0" "" "" "g.48372190A>C" "" "likely pathogenic" "" "0000177932" "0" "70" "7" "48450137" "48450137" "subst" "0.000105652" "00006" "ABCA13_000015" "g.48450137A>G" "3/678" "{PMID:Knight 2009:19944402}" "" "hg18 48,420,683A>G" "0/1019 SCZ, 0/365 MDD, 0/2262 controls; conserved amino acid; on specific haplotype" "Germline" "" "" "0" "" "" "g.48410540A>G" "" "likely pathogenic" "" "0000177933" "0" "70" "7" "48450137" "48450137" "subst" "0.000105652" "00006" "ABCA13_000015" "g.48450137A>G" "0.0009" "{PMID:Knight 2009:19944402}" "" "hg18 48,420,683A>G" "not found in controls" "Germline" "" "" "0" "" "" "g.48410540A>G" "" "likely pathogenic" "" "0000177934" "0" "70" "7" "48494853" "48494853" "subst" "1.30484E-5" "00006" "ABCA13_000019" "g.48494853A>G" "" "{PMID:Knight 2009:19944402}" "" "hg18 48,465,399A>G" "0/1717 cases (837 SCZ, 562 BP, 318 MDD), 0/980 controls; conserved amino acid" "Germline" "" "" "0" "" "" "g.48455256A>G" "" "likely pathogenic" "" "0000177935" "0" "70" "7" "48494853" "48494853" "subst" "1.30484E-5" "00006" "ABCA13_000019" "g.48494853A>G" "0.0003" "{PMID:Knight 2009:19944402}" "" "hg18 48,465,399A>G" "not found in controls" "Germline" "" "" "0" "" "" "g.48455256A>G" "" "likely pathogenic" "" "0000177936" "0" "70" "7" "48556328" "48556328" "subst" "0.00400831" "00006" "ABCA13_000022" "g.48556328A>G" "0.0014" "{PMID:Knight 2009:19944402}" "" "hg18 48,526,874G>A (T4550A)" "" "Germline" "" "" "0" "" "" "g.48516732A>G" "" "likely pathogenic" "" "0000177937" "0" "70" "7" "48556328" "48556328" "subst" "0.00400831" "00006" "ABCA13_000022" "g.48556328A>G" "3/938" "{PMID:Knight 2009:19944402}" "" "hg18 48,526,874G>A (T4550A)" "conserved amino acid" "Germline" "" "" "0" "" "" "g.48516732A>G" "" "likely pathogenic" "" "0000177938" "0" "70" "7" "48556328" "48556328" "subst" "0.00400831" "00006" "ABCA13_000022" "g.48556328A>G" "8/482" "{PMID:Knight 2009:19944402}" "" "hg18 48,526,874G>A (T4550A)" "conserved amino acid" "Germline" "" "" "0" "" "" "g.48516732A>G" "" "likely pathogenic" "" "0000177939" "0" "70" "7" "48556328" "48556328" "subst" "0.00400831" "00006" "ABCA13_000022" "g.48556328A>G" "1/265" "{PMID:Knight 2009:19944402}" "" "hg18 48,526,874G>A (T4550A)" "conserved amino acid" "Germline" "" "" "0" "" "" "g.48516732A>G" "" "likely pathogenic" "" "0000177940" "0" "70" "7" "48556328" "48556328" "subst" "0.00400831" "00006" "ABCA13_000022" "g.48556328A>G" "0.0056" "{PMID:Knight 2009:19944402}" "" "hg18 48,526,874G>A (T4550A)" "" "Germline" "" "" "0" "" "" "g.48516732A>G" "" "likely pathogenic" "" "0000177941" "0" "70" "7" "48556328" "48556328" "subst" "0.00400831" "00006" "ABCA13_000022" "g.48556328A>G" "9/861" "{PMID:Knight 2009:19944402}" "" "hg18 48,526,874G>A (T4550A)" "conserved amino acid" "Germline" "" "" "0" "" "" "g.48516732A>G" "" "likely pathogenic" "" "0000177942" "0" "70" "7" "48563974" "48563974" "subst" "0.000697948" "00006" "ABCA13_000027" "g.48563974C>T" "0.001" "{PMID:Knight 2009:19944402}" "" "hg18 48,534,520C>T" "" "Unknown" "" "" "0" "" "" "g.48524378C>T" "" "likely pathogenic" "" "0000177943" "0" "70" "7" "48563974" "48563974" "subst" "0.000697948" "00006" "ABCA13_000027" "g.48563974C>T" "5/2270" "{PMID:Knight 2009:19944402}" "" "hg18 48,534,520C>T" "conserved amino acid" "Unknown" "" "" "0" "" "" "g.48524378C>T" "" "likely pathogenic" "" "0000177944" "0" "70" "7" "48563974" "48563974" "subst" "0.000697948" "00006" "ABCA13_000027" "g.48563974C>T" "5/680" "{PMID:Knight 2009:19944402}" "" "hg18 48,534,520C>T" "conserved amino acid" "Unknown" "" "" "0" "" "" "g.48524378C>T" "" "likely pathogenic" "" "0000177945" "0" "70" "7" "48563974" "48563974" "subst" "0.000697948" "00006" "ABCA13_000027" "g.48563974C>T" "1/374" "{PMID:Knight 2009:19944402}" "" "hg18 48,534,520C>T" "conserved amino acid" "Unknown" "" "" "0" "" "" "g.48524378C>T" "" "likely pathogenic" "" "0000177946" "0" "70" "7" "48563974" "48563974" "subst" "0.000697948" "00006" "ABCA13_000027" "g.48563974C>T" "0.0025" "{PMID:Knight 2009:19944402}" "" "hg18 48,534,520C>T" "" "Unknown" "" "" "0" "" "" "g.48524378C>T" "" "likely pathogenic" "" "0000177947" "0" "70" "7" "48563974" "48563974" "subst" "0.000697948" "00006" "ABCA13_000027" "g.48563974C>T" "4/1004" "{PMID:Knight 2009:19944402}" "" "hg18 48,534,520C>T" "conserved amino acid" "Unknown" "" "" "0" "" "" "g.48524378C>T" "" "likely pathogenic" "" "0000177948" "0" "70" "7" "48626771" "48626771" "subst" "0.00308622" "00006" "ABCA13_000031" "g.48626771C>T" "0.0031" "{PMID:Knight 2009:19944402}" "" "hg18 48,597,317C>T" "" "Germline" "" "" "0" "" "" "g.48587175C>T" "" "likely pathogenic" "" "0000177949" "0" "70" "7" "48626771" "48626771" "subst" "0.00308622" "00006" "ABCA13_000031" "g.48626771C>T" "6/1025" "{PMID:Knight 2009:19944402}" "" "hg18 48,597,317C>T" "conserved amino acid" "Germline" "" "" "0" "" "" "g.48587175C>T" "" "likely pathogenic" "" "0000177950" "0" "70" "7" "48626771" "48626771" "subst" "0.00308622" "00006" "ABCA13_000031" "g.48626771C>T" "5/619" "{PMID:Knight 2009:19944402}" "" "hg18 48,597,317C>T" "conserved amino acid" "Germline" "" "" "0" "" "" "g.48587175C>T" "" "likely pathogenic" "" "0000177951" "0" "70" "7" "48626771" "48626771" "subst" "0.00308622" "00006" "ABCA13_000031" "g.48626771C>T" "2/336" "{PMID:Knight 2009:19944402}" "" "hg18 48,597,317C>T" "conserved amino acid" "Germline" "" "" "0" "" "" "g.48587175C>T" "" "likely pathogenic" "" "0000177952" "0" "70" "7" "48626771" "48626771" "subst" "0.00308622" "00006" "ABCA13_000031" "g.48626771C>T" "0.0050" "{PMID:Knight 2009:19944402}" "" "hg18 48,597,317C>T" "" "Germline" "" "" "0" "" "" "g.48587175C>T" "" "likely pathogenic" "" "0000177953" "0" "70" "7" "48626771" "48626771" "subst" "0.00308622" "00006" "ABCA13_000031" "g.48626771C>T" "12/815" "{PMID:Knight 2009:19944402}" "" "hg18 48,597,317C>T" "conserved amino acid" "Germline" "" "" "0" "" "" "g.48587175C>T" "" "likely pathogenic" "" "0000177954" "0" "90" "7" "48412073" "48412073" "subst" "2.19647E-5" "00006" "ABCA13_000005" "g.48412073T>G" "" "{PMID:Knight 2009:19944402}" "" "hg18 48,382,619T>G" "0/1606 cases (851 SCZ, 496 BP, 259 MDD), 0/939 controls; conserved amino acid; miss./splice" "Unknown" "" "" "0" "" "" "g.48372476T>G" "" "pathogenic" "" "0000177955" "0" "90" "7" "48412073" "48412073" "subst" "2.19647E-5" "00006" "ABCA13_000005" "g.48412073T>G" "0.0003" "{PMID:Knight 2009:19944402}" "" "hg18 48,382,619T>G" "not found in controls; missense/splice variant" "Unknown" "" "" "0" "" "" "g.48372476T>G" "" "pathogenic" "" "0000254626" "0" "30" "7" "48311598" "48311598" "subst" "8.9632E-5" "01943" "ABCA13_000033" "g.48311598A>C" "" "" "" "ABCA13(NM_152701.4):c.2335A>C (p.K779Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48272001A>C" "" "likely benign" "" "0000261574" "0" "30" "7" "48313381" "48313381" "subst" "1.65438E-5" "01943" "ABCA13_000034" "g.48313381G>A" "" "" "" "ABCA13(NM_152701.4):c.4118G>A (p.R1373H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48273784G>A" "" "likely benign" "" "0000261575" "0" "50" "7" "48327673" "48327673" "subst" "0" "01943" "ABCA13_000037" "g.48327673C>A" "" "" "" "ABCA13(NM_152701.4):c.8953C>A (p.Q2985K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48288076C>A" "" "VUS" "" "0000261576" "0" "50" "7" "48356856" "48356856" "subst" "0.000162762" "01943" "ABCA13_000038" "g.48356856C>T" "" "" "" "ABCA13(NM_152701.4):c.9962C>T (p.T3321I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48317259C>T" "" "VUS" "" "0000331568" "0" "50" "7" "48313761" "48313761" "subst" "0" "01804" "ABCA13_000035" "g.48313761G>A" "" "" "" "ABCA13(NM_152701.3):c.4498G>A (p.(Val1500Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48274164G>A" "" "VUS" "" "0000331569" "0" "50" "7" "48316080" "48316080" "subst" "4.18753E-6" "01804" "ABCA13_000036" "g.48316080T>C" "" "" "" "ABCA13(NM_152701.3):c.6817T>C (p.(Ser2273Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48276483T>C" "" "VUS" "" "0000407960" "0" "50" "7" "48285522" "48285522" "subst" "2.85044E-5" "00006" "ABCA13_000041" "g.48285522G>A" "" "{PMID:de Ligt 2012:23033978}" "" "NM_152701.3:c.1554G>A (=)" "variant not associated with phenotype" "De novo" "" "" "0" "" "" "g.48245925G>A" "" "VUS" "" "0000532181" "0" "30" "7" "48259073" "48259084" "del" "8.96693E-5" "01943" "ABCA13_000042" "g.48259073_48259084del" "" "" "" "ABCA13(NM_152701.4):c.410_421delGACTTTGGGTAG (p.R137_E141delinsK)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48219476_48219487del" "" "likely benign" "" "0000532195" "0" "50" "7" "48312057" "48312057" "subst" "0" "01943" "ABCA13_000043" "g.48312057G>C" "" "" "" "ABCA13(NM_152701.4):c.2794G>C (p.A932P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48272460G>C" "" "VUS" "" "0000532196" "0" "50" "7" "48312670" "48312670" "subst" "0" "01943" "ABCA13_000044" "g.48312670G>A" "" "" "" "ABCA13(NM_152701.4):c.3407G>A (p.S1136N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48273073G>A" "" "VUS" "" "0000532199" "0" "30" "7" "48390325" "48390325" "subst" "0.000243875" "01943" "ABCA13_000046" "g.48390325C>T" "" "" "" "ABCA13(NM_152701.4):c.10290C>T (p.C3430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48350728C>T" "" "likely benign" "" "0000532201" "0" "30" "7" "48427520" "48427520" "subst" "0.000676171" "01943" "ABCA13_000047" "g.48427520A>C" "" "" "" "ABCA13(NM_152701.4):c.11437A>C (p.S3813R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48387923A>C" "" "likely benign" "" "0000611126" "0" "50" "7" "48520639" "48520639" "subst" "0" "01943" "ABCA13_000049" "g.48520639C>G" "" "" "" "ABCA13(NM_152701.4):c.12982C>G (p.P4328A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48481042C>G" "" "VUS" "" "0000611127" "0" "30" "7" "48547540" "48547540" "subst" "0.00022845" "01943" "ABCA13_000050" "g.48547540C>T" "" "" "" "ABCA13(NM_152701.4):c.13419C>T (p.I4473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48507944C>T" "" "likely benign" "" "0000678123" "0" "30" "7" "48314591" "48314591" "subst" "2.03239E-5" "01943" "ABCA13_000051" "g.48314591A>C" "" "" "" "ABCA13(NM_152701.4):c.5328A>C (p.T1776=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721490" "0" "30" "7" "48352801" "48352801" "subst" "0.0004372" "01943" "ABCA13_000053" "g.48352801C>G" "" "" "" "ABCA13(NM_152701.4):c.9654C>G (p.A3218=), ABCA13(NM_152701.5):c.9654C>G (p.(Ala3218=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721491" "0" "30" "7" "48528940" "48528940" "subst" "2.98083E-5" "01943" "ABCA13_000054" "g.48528940C>T" "" "" "" "ABCA13(NM_152701.4):c.13290C>T (p.Y4430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803176" "0" "30" "7" "48314092" "48314092" "subst" "4.07691E-6" "01943" "ABCA13_000055" "g.48314092A>T" "" "" "" "ABCA13(NM_152701.4):c.4829A>T (p.H1610L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803177" "0" "50" "7" "48317987" "48317987" "subst" "7.72546E-5" "01943" "ABCA13_000056" "g.48317987C>A" "" "" "" "ABCA13(NM_152701.4):c.7196C>A (p.S2399Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803178" "0" "30" "7" "48319077" "48319077" "subst" "0" "01943" "ABCA13_000057" "g.48319077G>A" "" "" "" "ABCA13(NM_152701.4):c.8286G>A (p.M2762I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803179" "0" "50" "7" "48392054" "48392054" "subst" "5.83431E-5" "01943" "ABCA13_000058" "g.48392054C>T" "" "" "" "ABCA13(NM_152701.4):c.10658C>T (p.A3553V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860851" "0" "30" "7" "48316076" "48316076" "subst" "0.000238974" "01943" "ABCA13_000059" "g.48316076C>A" "" "" "" "ABCA13(NM_152701.4):c.6813C>A (p.F2271L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860852" "0" "50" "7" "48349586" "48349586" "subst" "2.84315E-5" "01943" "ABCA13_000060" "g.48349586G>A" "" "" "" "ABCA13(NM_152701.4):c.9364G>A (p.D3122N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860853" "0" "50" "7" "48353866" "48353866" "subst" "0.000207878" "01943" "ABCA13_000061" "g.48353866G>C" "" "" "" "ABCA13(NM_152701.4):c.9719G>C (p.G3240A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977751" "0" "50" "7" "48280495" "48280495" "subst" "0" "01804" "ABCA13_000062" "g.48280495T>C" "" "" "" "ABCA13(NM_152701.5):c.1094T>C (p.(Leu365Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977755" "0" "30" "7" "48311468" "48311468" "subst" "4.26239E-6" "01804" "ABCA13_000063" "g.48311468A>G" "" "" "" "ABCA13(NM_152701.5):c.2205A>G (p.(Ser735=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977756" "0" "30" "7" "48311691" "48311691" "subst" "4.07242E-6" "01804" "ABCA13_000064" "g.48311691C>A" "" "" "" "ABCA13(NM_152701.5):c.2428C>A (p.(His810Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977757" "0" "50" "7" "48314661" "48314661" "del" "0" "01804" "ABCA13_000065" "g.48314661del" "" "" "" "ABCA13(NM_152701.5):c.5398del (p.(Asp1800IlefsTer5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977758" "0" "30" "7" "48317683" "48317683" "del" "0" "01804" "ABCA13_000066" "g.48317683del" "" "" "" "ABCA13(NM_152701.5):c.6900-8del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977759" "0" "50" "7" "48318526" "48318526" "del" "0" "01804" "ABCA13_000067" "g.48318526del" "" "" "" "ABCA13(NM_152701.5):c.7735del (p.(Ile2579Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977760" "0" "50" "7" "48335308" "48335308" "subst" "0" "01804" "ABCA13_000068" "g.48335308G>T" "" "" "" "ABCA13(NM_152701.5):c.8967G>T (p.(Lys2989Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977761" "0" "30" "7" "48352801" "48352801" "subst" "0.0004372" "01804" "ABCA13_000053" "g.48352801C>G" "" "" "" "ABCA13(NM_152701.4):c.9654C>G (p.A3218=), ABCA13(NM_152701.5):c.9654C>G (p.(Ala3218=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977762" "0" "30" "7" "48431746" "48431746" "subst" "0" "01804" "ABCA13_000069" "g.48431746C>A" "" "" "" "ABCA13(NM_152701.5):c.11873+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977763" "0" "50" "7" "48443302" "48443306" "del" "0" "01804" "ABCA13_000070" "g.48443302_48443306del" "" "" "" "ABCA13(NM_152701.5):c.11896_11900del (p.(Thr3966AlafsTer34))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977764" "0" "50" "7" "48443368" "48443368" "subst" "0.000138128" "01804" "ABCA13_000071" "g.48443368A>T" "" "" "" "ABCA13(NM_152701.5):c.11962A>T (p.(Ile3988Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977765" "0" "50" "7" "48528893" "48528893" "del" "0" "01804" "ABCA13_000072" "g.48528893del" "" "" "" "ABCA13(NM_152701.5):c.13243del (p.(Ile4416PhefsTer17))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977766" "0" "50" "7" "48547533" "48547533" "subst" "8.16013E-6" "01804" "ABCA13_000073" "g.48547533C>T" "" "" "" "ABCA13(NM_152701.5):c.13412C>T (p.(Ala4471Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977767" "0" "50" "7" "48563974" "48563974" "subst" "0.000697948" "01804" "ABCA13_000027" "g.48563974C>T" "" "" "" "ABCA13(NM_152701.5):c.14182C>T (p.(Arg4728Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977768" "0" "30" "7" "48626771" "48626771" "subst" "0.00308622" "01804" "ABCA13_000031" "g.48626771C>T" "" "" "" "ABCA13(NM_152701.5):c.14527C>T (p.(Arg4843Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996563" "0" "30" "7" "48313998" "48313998" "subst" "4.49053E-5" "01804" "ABCA13_000074" "g.48313998A>G" "" "" "" "ABCA13(NM_152701.3):c.4735A>G (p.(Asn1579Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996564" "0" "50" "7" "48337984" "48337984" "subst" "8.23276E-6" "01804" "ABCA13_000075" "g.48337984T>C" "" "" "" "ABCA13(NM_152701.3):c.9221T>C (p.(Met3074Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036424" "0" "50" "7" "48211098" "48211098" "subst" "1.4566E-5" "01804" "ABCA13_000076" "g.48211098C>A" "" "" "" "ABCA13(NM_152701.5):c.18C>A (p.(Cys6*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036429" "0" "50" "7" "48269511" "48269511" "subst" "2.43813E-5" "01804" "ABCA13_000077" "g.48269511C>T" "" "" "" "ABCA13(NM_152701.5):c.722C>T (p.(Ser241Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036430" "0" "30" "7" "48308603" "48308603" "subst" "8.28452E-6" "01804" "ABCA13_000078" "g.48308603G>A" "" "" "" "ABCA13(NM_152701.5):c.2032G>A (p.(Glu678Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036432" "0" "50" "7" "48314138" "48314138" "del" "4.08253E-6" "01804" "ABCA13_000079" "g.48314138del" "" "" "" "ABCA13(NM_152701.5):c.4875del (p.(Met1625Ilefs*10))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036433" "0" "50" "7" "48314139" "48314139" "subst" "4.08293E-6" "01804" "ABCA13_000080" "g.48314139A>T" "" "" "" "ABCA13(NM_152701.5):c.4876A>T (p.(Lys1626*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036434" "0" "50" "7" "48314872" "48314872" "subst" "0" "01804" "ABCA13_000081" "g.48314872A>G" "" "" "" "ABCA13(NM_152701.5):c.5609A>G (p.(Asp1870Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036435" "0" "30" "7" "48315129" "48315129" "subst" "4.07498E-6" "01804" "ABCA13_000082" "g.48315129A>G" "" "" "" "ABCA13(NM_152701.5):c.5866A>G (p.(Ile1956Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036436" "0" "30" "7" "48317677" "48317684" "dup" "0" "01804" "ABCA13_000083" "g.48317677_48317684dup" "" "" "" "ABCA13(NM_152701.5):c.6900-14_6900-7dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036437" "0" "30" "7" "48317683" "48317684" "del" "0" "01804" "ABCA13_000084" "g.48317683_48317684del" "" "" "" "ABCA13(NM_152701.5):c.6900-8_6900-7del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036438" "0" "50" "7" "48318518" "48318518" "subst" "7.01326E-5" "01804" "ABCA13_000085" "g.48318518T>A" "" "" "" "ABCA13(NM_152701.5):c.7727T>A (p.(Leu2576*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036439" "0" "50" "7" "48391990" "48391990" "subst" "1.22407E-5" "01804" "ABCA13_000086" "g.48391990G>A" "" "" "" "ABCA13(NM_152701.5):c.10594G>A (p.(Glu3532Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036440" "0" "30" "7" "48451966" "48451966" "subst" "0.000110716" "01804" "ABCA13_000087" "g.48451966C>T" "" "" "" "ABCA13(NM_152701.5):c.12245C>T (p.(Ala4082Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046985" "0" "50" "7" "48413592" "48413592" "subst" "0" "04866" "ABCA13_000088" "g.48413592G>T" "1/12" "" "" "" "" "De novo" "-" "" "0" "" "" "g.48373995G>T" "" "VUS" "ACMG" "0001052679" "0" "50" "7" "48258950" "48258950" "subst" "7.58815E-5" "01804" "ABCA13_000089" "g.48258950G>C" "" "" "" "ABCA13(NM_152701.5):c.288-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052680" "0" "30" "7" "48317681" "48317681" "del" "0" "01804" "ABCA13_000090" "g.48317681del" "" "" "" "ABCA13(NM_152701.5):c.6900-10del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052681" "0" "50" "7" "48407452" "48407452" "subst" "0" "01804" "ABCA13_000091" "g.48407452G>A" "" "" "" "ABCA13(NM_152701.5):c.10750G>A (p.(Val3584Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052682" "0" "50" "7" "48411986" "48411986" "dup" "0" "01804" "ABCA13_000092" "g.48411986dup" "" "" "" "ABCA13(NM_152701.5):c.11025dup (p.(Asn3676Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052683" "0" "50" "7" "48494846" "48494846" "subst" "0" "01804" "ABCA13_000093" "g.48494846C>A" "" "" "" "ABCA13(NM_152701.5):c.12778C>A (p.(Pro4260Thr))" "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 ABCA13 ## Count = 134 "{{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}}" "0000177881" "00001856" "10" "14641" "-11" "14641" "-11" "c.14641-11C>A" "r.(?)" "p.(=)" "57i" "0000177882" "00001856" "10" "14641" "-11" "14641" "-11" "c.14641-11C>A" "r.(?)" "p.(=)" "57i" "0000177883" "00001856" "30" "10830" "0" "10830" "0" "c.10830A>C" "r.(?)" "p.(Pro3610=)" "33" "0000177884" "00001856" "30" "10830" "0" "10830" "0" "c.10830A>T" "r.(?)" "p.(Pro3610=)" "33" "0000177885" "00001856" "30" "10830" "0" "10830" "0" "c.10830A>T" "r.(?)" "p.(Pro3610=)" "33" "0000177886" "00001856" "30" "11134" "-126" "11134" "-126" "c.11134-126C>T" "r.(?)" "p.(=)" "33i" "0000177887" "00001856" "30" "11134" "-126" "11134" "-126" "c.11134-126C>T" "r.(?)" "p.(=)" "33i" "0000177888" "00001856" "30" "11134" "-16" "11134" "-16" "c.11134-16A>G" "r.(?)" "p.(=)" "33i" "0000177889" "00001856" "30" "11203" "64" "11203" "64" "c.11203+64T>C" "r.(?)" "p.(=)" "34i" "0000177890" "00001856" "30" "11203" "64" "11203" "64" "c.11203+64T>C" "r.(?)" "p.(=)" "34i" "0000177891" "00001856" "30" "11473" "54" "11473" "54" "c.11473+54G>A" "r.(?)" "p.(=)" "36i" "0000177892" "00001856" "30" "11473" "130" "11473" "130" "c.11473+130G>C" "r.(?)" "p.(=)" "36i" "0000177893" "00001856" "30" "11583" "0" "11583" "0" "c.11583C>G" "r.(?)" "p.(Leu3861=)" "37" "0000177894" "00001856" "30" "11613" "0" "11613" "0" "c.11613C>T" "r.(?)" "p.(Thr3871=)" "37" "0000177895" "00001856" "30" "11874" "-88" "11874" "-88" "c.11874-88C>T" "r.(?)" "p.(=)" "38i" "0000177896" "00001856" "30" "12071" "-20" "12071" "-20" "c.12071-20C>T" "r.(?)" "p.(=)" "39i" "0000177897" "00001856" "30" "12071" "-20" "12071" "-20" "c.12071-20C>T" "r.(?)" "p.(=)" "39i" "0000177898" "00001856" "30" "12139" "0" "12139" "0" "c.12139C>G" "r.(?)" "p.(Leu4047Val)" "40" "0000177899" "00001856" "30" "12139" "0" "12139" "0" "c.12139C>G" "r.(?)" "p.(Leu4047Val)" "40" "0000177900" "00001856" "30" "12228" "14" "12228" "14" "c.12228+14C>G" "r.(?)" "p.(=)" "40i" "0000177901" "00001856" "30" "12228" "14" "12228" "14" "c.12228+14C>G" "r.(?)" "p.(=)" "40i" "0000177902" "00001856" "30" "12780" "0" "12780" "0" "c.12780T>C" "r.(?)" "p.(Pro4260=)" "43" "0000177903" "00001856" "30" "13360" "0" "13360" "0" "c.13360C>T" "r.(?)" "p.(Arg4454Cys)" "50" "0000177904" "00001856" "30" "13360" "0" "13360" "0" "c.13360C>T" "r.(?)" "p.(Arg4454Cys)" "50" "0000177905" "00001856" "30" "13390" "0" "13390" "0" "c.13390C>A" "r.(?)" "p.(Leu4464Met)" "50" "0000177906" "00001856" "30" "13390" "0" "13390" "0" "c.13390C>A" "r.(?)" "p.(Leu4464Met)" "50" "0000177907" "00001856" "30" "13797" "89" "13797" "89" "c.13797+89C>G" "r.(?)" "p.(=)" "52i" "0000177908" "00001856" "30" "13797" "89" "13797" "89" "c.13797+89C>G" "r.(?)" "p.(=)" "52i" "0000177909" "00001856" "30" "13942" "0" "13942" "0" "c.13942C>G" "r.(?)" "p.(Pro4648Ala)" "53" "0000177910" "00001856" "30" "13942" "0" "13942" "0" "c.13942C>G" "r.(?)" "p.(Pro4648Ala)" "53" "0000177911" "00001856" "30" "14121" "0" "14121" "0" "c.14121A>G" "r.(?)" "p.(Arg4707=)" "54" "0000177912" "00001856" "30" "14121" "0" "14121" "0" "c.14121A>G" "r.(?)" "p.(Arg4707=)" "54" "0000177913" "00001856" "30" "14354" "57" "14354" "57" "c.14354+57C>T" "r.(?)" "p.(=)" "55i" "0000177914" "00001856" "30" "14354" "58" "14354" "58" "c.14354+58C>T" "r.(?)" "p.(=)" "55i" "0000177915" "00001856" "30" "14521" "0" "14521" "0" "c.14521A>G" "r.(?)" "p.(Ile4841Val)" "57" "0000177916" "00001856" "50" "13768" "0" "13768" "0" "c.13768C>T" "r.(?)" "p.(Arg4590Trp)" "52" "0000177917" "00001856" "50" "13768" "0" "13768" "0" "c.13768C>T" "r.(?)" "p.(Arg4590Trp)" "52" "0000177918" "00001856" "50" "13768" "0" "13768" "0" "c.13768C>T" "r.(?)" "p.(Arg4590Trp)" "52" "0000177919" "00001856" "50" "13768" "0" "13768" "0" "c.13768C>T" "r.(?)" "p.(Arg4590Trp)" "52" "0000177920" "00001856" "50" "13768" "0" "13768" "0" "c.13768C>T" "r.(?)" "p.(Arg4590Trp)" "52" "0000177921" "00001856" "50" "13768" "0" "13768" "0" "c.13768C>T" "r.(?)" "p.(Arg4590Trp)" "52" "0000177922" "00001856" "70" "10811" "0" "10811" "0" "c.10811G>A" "r.(?)" "p.(Arg3604Gln)" "33" "0000177923" "00001856" "70" "10811" "0" "10811" "0" "c.10811G>A" "r.(?)" "p.(Arg3604Gln)" "33" "0000177924" "00001856" "70" "10811" "0" "10811" "0" "c.10811G>A" "r.(?)" "p.(Arg3604Gln)" "33" "0000177925" "00001856" "70" "10811" "0" "10811" "0" "c.10811G>A" "r.(?)" "p.(Arg3604Gln)" "33" "0000177926" "00001856" "70" "10826" "0" "10826" "0" "c.10826A>C" "r.(?)" "p.(His3609Pro)" "33" "0000177927" "00001856" "70" "10826" "0" "10826" "0" "c.10826A>C" "r.(?)" "p.(His3609Pro)" "33" "0000177928" "00001856" "70" "10826" "0" "10826" "0" "c.10826A>C" "r.(?)" "p.(His3609Pro)" "33" "0000177929" "00001856" "70" "10826" "0" "10826" "0" "c.10826A>C" "r.(?)" "p.(His3609Pro)" "33" "0000177930" "00001856" "70" "10826" "0" "10826" "0" "c.10826A>C" "r.(?)" "p.(His3609Pro)" "33" "0000177931" "00001856" "70" "10826" "0" "10826" "0" "c.10826A>C" "r.(?)" "p.(His3609Pro)" "33" "0000177932" "00001856" "70" "12091" "0" "12091" "0" "c.12091A>G" "r.(?)" "p.(Thr4031Ala)" "40" "0000177933" "00001856" "70" "12091" "0" "12091" "0" "c.12091A>G" "r.(?)" "p.(Thr4031Ala)" "40" "0000177934" "00001856" "70" "12785" "0" "12785" "0" "c.12785A>G" "r.(?)" "p.(His4262Arg)" "43" "0000177935" "00001856" "70" "12785" "0" "12785" "0" "c.12785A>G" "r.(?)" "p.(His4262Arg)" "43" "0000177936" "00001856" "70" "13648" "0" "13648" "0" "c.13648A>G" "r.(?)" "p.(Ala4550Thr)" "52" "0000177937" "00001856" "70" "13648" "0" "13648" "0" "c.13648A>G" "r.(?)" "p.(Ala4550Thr)" "52" "0000177938" "00001856" "70" "13648" "0" "13648" "0" "c.13648A>G" "r.(?)" "p.(Ala4550Thr)" "52" "0000177939" "00001856" "70" "13648" "0" "13648" "0" "c.13648A>G" "r.(?)" "p.(Ala4550Thr)" "52" "0000177940" "00001856" "70" "13648" "0" "13648" "0" "c.13648A>G" "r.(?)" "p.(Ala4550Thr)" "52" "0000177941" "00001856" "70" "13648" "0" "13648" "0" "c.13648A>G" "r.(?)" "p.(Ala4550Thr)" "52" "0000177942" "00001856" "70" "14182" "0" "14182" "0" "c.14182C>T" "r.(?)" "p.(Arg4728*)" "54" "0000177943" "00001856" "70" "14182" "0" "14182" "0" "c.14182C>T" "r.(?)" "p.(Arg4728*)" "54" "0000177944" "00001856" "70" "14182" "0" "14182" "0" "c.14182C>T" "r.(?)" "p.(Arg4728*)" "54" "0000177945" "00001856" "70" "14182" "0" "14182" "0" "c.14182C>T" "r.(?)" "p.(Arg4728*)" "54" "0000177946" "00001856" "70" "14182" "0" "14182" "0" "c.14182C>T" "r.(?)" "p.(Arg4728*)" "54" "0000177947" "00001856" "70" "14182" "0" "14182" "0" "c.14182C>T" "r.(?)" "p.(Arg4728*)" "54" "0000177948" "00001856" "70" "14527" "0" "14527" "0" "c.14527C>T" "r.(?)" "p.(Arg4843Cys)" "57" "0000177949" "00001856" "70" "14527" "0" "14527" "0" "c.14527C>T" "r.(?)" "p.(Arg4843Cys)" "57" "0000177950" "00001856" "70" "14527" "0" "14527" "0" "c.14527C>T" "r.(?)" "p.(Arg4843Cys)" "57" "0000177951" "00001856" "70" "14527" "0" "14527" "0" "c.14527C>T" "r.(?)" "p.(Arg4843Cys)" "57" "0000177952" "00001856" "70" "14527" "0" "14527" "0" "c.14527C>T" "r.(?)" "p.(Arg4843Cys)" "57" "0000177953" "00001856" "70" "14527" "0" "14527" "0" "c.14527C>T" "r.(?)" "p.(Arg4843Cys)" "57" "0000177954" "00001856" "90" "11112" "0" "11112" "0" "c.11112T>G" "r.(?)" "p.(Ser3704Arg)" "33" "0000177955" "00001856" "90" "11112" "0" "11112" "0" "c.11112T>G" "r.(?)" "p.(Ser3704Arg)" "33" "0000254626" "00001856" "30" "2335" "0" "2335" "0" "c.2335A>C" "r.(?)" "p.(Lys779Gln)" "" "0000261574" "00001856" "30" "4118" "0" "4118" "0" "c.4118G>A" "r.(?)" "p.(Arg1373His)" "" "0000261575" "00001856" "50" "8953" "0" "8953" "0" "c.8953C>A" "r.(?)" "p.(Gln2985Lys)" "" "0000261576" "00001856" "50" "9962" "0" "9962" "0" "c.9962C>T" "r.(?)" "p.(Thr3321Ile)" "" "0000331568" "00001856" "50" "4498" "0" "4498" "0" "c.4498G>A" "r.(?)" "p.(Val1500Ile)" "" "0000331569" "00001856" "50" "6817" "0" "6817" "0" "c.6817T>C" "r.(?)" "p.(Ser2273Pro)" "" "0000407960" "00001856" "00" "1554" "0" "1554" "0" "c.1554G>A" "r.(?)" "p.(Pro518=)" "" "0000532181" "00001856" "30" "410" "0" "421" "0" "c.410_421del" "r.(?)" "p.(Arg137_Glu141delinsLys)" "" "0000532195" "00001856" "50" "2794" "0" "2794" "0" "c.2794G>C" "r.(?)" "p.(Ala932Pro)" "" "0000532196" "00001856" "50" "3407" "0" "3407" "0" "c.3407G>A" "r.(?)" "p.(Ser1136Asn)" "" "0000532199" "00001856" "30" "10290" "0" "10290" "0" "c.10290C>T" "r.(?)" "p.(Cys3430=)" "" "0000532201" "00001856" "30" "11437" "0" "11437" "0" "c.11437A>C" "r.(?)" "p.(Ser3813Arg)" "" "0000611126" "00001856" "50" "12982" "0" "12982" "0" "c.12982C>G" "r.(?)" "p.(Pro4328Ala)" "" "0000611127" "00001856" "30" "13419" "0" "13419" "0" "c.13419C>T" "r.(?)" "p.(Ile4473=)" "" "0000678123" "00001856" "30" "5328" "0" "5328" "0" "c.5328A>C" "r.(?)" "p.(Thr1776=)" "" "0000721490" "00001856" "30" "9654" "0" "9654" "0" "c.9654C>G" "r.(?)" "p.(Ala3218=)" "" "0000721491" "00001856" "30" "13290" "0" "13290" "0" "c.13290C>T" "r.(?)" "p.(Tyr4430=)" "" "0000803176" "00001856" "30" "4829" "0" "4829" "0" "c.4829A>T" "r.(?)" "p.(His1610Leu)" "" "0000803177" "00001856" "50" "7196" "0" "7196" "0" "c.7196C>A" "r.(?)" "p.(Ser2399Tyr)" "" "0000803178" "00001856" "30" "8286" "0" "8286" "0" "c.8286G>A" "r.(?)" "p.(Met2762Ile)" "" "0000803179" "00001856" "50" "10658" "0" "10658" "0" "c.10658C>T" "r.(?)" "p.(Ala3553Val)" "" "0000860851" "00001856" "30" "6813" "0" "6813" "0" "c.6813C>A" "r.(?)" "p.(Phe2271Leu)" "" "0000860852" "00001856" "50" "9364" "0" "9364" "0" "c.9364G>A" "r.(?)" "p.(Asp3122Asn)" "" "0000860853" "00001856" "50" "9719" "0" "9719" "0" "c.9719G>C" "r.(?)" "p.(Gly3240Ala)" "" "0000977751" "00001856" "50" "1094" "0" "1094" "0" "c.1094T>C" "r.(?)" "p.(Leu365Pro)" "" "0000977755" "00001856" "30" "2205" "0" "2205" "0" "c.2205A>G" "r.(?)" "p.(=)" "" "0000977756" "00001856" "30" "2428" "0" "2428" "0" "c.2428C>A" "r.(?)" "p.(His810Asn)" "" "0000977757" "00001856" "50" "5398" "0" "5398" "0" "c.5398del" "r.(?)" "p.(Asp1800Ilefs*5)" "" "0000977758" "00001856" "30" "6900" "-8" "6900" "-8" "c.6900-8del" "r.(=)" "p.(=)" "" "0000977759" "00001856" "50" "7735" "0" "7735" "0" "c.7735del" "r.(?)" "p.(Ile2579*)" "" "0000977760" "00001856" "50" "8967" "0" "8967" "0" "c.8967G>T" "r.(?)" "p.(Lys2989Asn)" "" "0000977761" "00001856" "30" "9654" "0" "9654" "0" "c.9654C>G" "r.(?)" "p.(Ala3218=)" "" "0000977762" "00001856" "30" "11873" "10" "11873" "10" "c.11873+10C>A" "r.(=)" "p.(=)" "" "0000977763" "00001856" "50" "11896" "0" "11900" "0" "c.11896_11900del" "r.(?)" "p.(Thr3966Alafs*34)" "" "0000977764" "00001856" "50" "11962" "0" "11962" "0" "c.11962A>T" "r.(?)" "p.(Ile3988Phe)" "" "0000977765" "00001856" "50" "13243" "0" "13243" "0" "c.13243del" "r.(?)" "p.(Ile4416Phefs*17)" "" "0000977766" "00001856" "50" "13412" "0" "13412" "0" "c.13412C>T" "r.(?)" "p.(Ala4471Val)" "" "0000977767" "00001856" "50" "14182" "0" "14182" "0" "c.14182C>T" "r.(?)" "p.(Arg4728*)" "" "0000977768" "00001856" "30" "14527" "0" "14527" "0" "c.14527C>T" "r.(?)" "p.(Arg4843Cys)" "" "0000996563" "00001856" "30" "4735" "0" "4735" "0" "c.4735A>G" "r.(?)" "p.(Asn1579Asp)" "" "0000996564" "00001856" "50" "9221" "0" "9221" "0" "c.9221T>C" "r.(?)" "p.(Met3074Thr)" "" "0001036424" "00001856" "50" "18" "0" "18" "0" "c.18C>A" "r.(?)" "p.(Cys6*)" "" "0001036429" "00001856" "50" "722" "0" "722" "0" "c.722C>T" "r.(?)" "p.(Ser241Leu)" "" "0001036430" "00001856" "30" "2032" "0" "2032" "0" "c.2032G>A" "r.(?)" "p.(Glu678Lys)" "" "0001036432" "00001856" "50" "4875" "0" "4875" "0" "c.4875del" "r.(?)" "p.(Met1625Ilefs*10)" "" "0001036433" "00001856" "50" "4876" "0" "4876" "0" "c.4876A>T" "r.(?)" "p.(Lys1626*)" "" "0001036434" "00001856" "50" "5609" "0" "5609" "0" "c.5609A>G" "r.(?)" "p.(Asp1870Gly)" "" "0001036435" "00001856" "30" "5866" "0" "5866" "0" "c.5866A>G" "r.(?)" "p.(Ile1956Val)" "" "0001036436" "00001856" "30" "6900" "-14" "6900" "-7" "c.6900-14_6900-7dup" "r.(=)" "p.(=)" "" "0001036437" "00001856" "30" "6900" "-8" "6900" "-7" "c.6900-8_6900-7del" "r.(=)" "p.(=)" "" "0001036438" "00001856" "50" "7727" "0" "7727" "0" "c.7727T>A" "r.(?)" "p.(Leu2576*)" "" "0001036439" "00001856" "50" "10594" "0" "10594" "0" "c.10594G>A" "r.(?)" "p.(Glu3532Lys)" "" "0001036440" "00001856" "30" "12245" "0" "12245" "0" "c.12245C>T" "r.(?)" "p.(Ala4082Val)" "" "0001046985" "00001856" "50" "11134" "-352" "11134" "-352" "c.11134-352G>T" "r.(?)" "p.(=)" "" "0001052679" "00001856" "50" "288" "-1" "288" "-1" "c.288-1G>C" "r.spl?" "p.?" "" "0001052680" "00001856" "30" "6900" "-10" "6900" "-10" "c.6900-10del" "r.(=)" "p.(=)" "" "0001052681" "00001856" "50" "10750" "0" "10750" "0" "c.10750G>A" "r.(?)" "p.(Val3584Met)" "" "0001052682" "00001856" "50" "11025" "0" "11025" "0" "c.11025dup" "r.(?)" "p.(Asn3676*)" "" "0001052683" "00001856" "50" "12778" "0" "12778" "0" "c.12778C>A" "r.(?)" "p.(Pro4260Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 77 "{{screeningid}}" "{{variantid}}" "0000110899" "0000177922" "0000110900" "0000177923" "0000110901" "0000177924" "0000110902" "0000177925" "0000110903" "0000177926" "0000110904" "0000177927" "0000110905" "0000177928" "0000110906" "0000177929" "0000110907" "0000177930" "0000110908" "0000177931" "0000110909" "0000177883" "0000110910" "0000177884" "0000110911" "0000177885" "0000110912" "0000177954" "0000110913" "0000177955" "0000110914" "0000177886" "0000110915" "0000177887" "0000110916" "0000177888" "0000110917" "0000177889" "0000110918" "0000177890" "0000110919" "0000177891" "0000110920" "0000177892" "0000110921" "0000177893" "0000110922" "0000177894" "0000110923" "0000177895" "0000110924" "0000177896" "0000110925" "0000177897" "0000110926" "0000177932" "0000110927" "0000177933" "0000110928" "0000177898" "0000110929" "0000177899" "0000110930" "0000177900" "0000110931" "0000177901" "0000110932" "0000177902" "0000110933" "0000177934" "0000110934" "0000177935" "0000110935" "0000177903" "0000110936" "0000177904" "0000110937" "0000177905" "0000110938" "0000177906" "0000110939" "0000177936" "0000110940" "0000177937" "0000110941" "0000177938" "0000110942" "0000177939" "0000110943" "0000177940" "0000110944" "0000177941" "0000110945" "0000177916" "0000110946" "0000177917" "0000110947" "0000177918" "0000110948" "0000177919" "0000110949" "0000177920" "0000110950" "0000177921" "0000110951" "0000177907" "0000110952" "0000177908" "0000110953" "0000177909" "0000110954" "0000177910" "0000110955" "0000177911" "0000110956" "0000177912" "0000110957" "0000177942" "0000110958" "0000177943" "0000110959" "0000177944" "0000110960" "0000177945" "0000110961" "0000177946" "0000110962" "0000177947" "0000110963" "0000177913" "0000110964" "0000177914" "0000110965" "0000177915" "0000110966" "0000177948" "0000110967" "0000177949" "0000110968" "0000177950" "0000110969" "0000177951" "0000110970" "0000177952" "0000110971" "0000177953" "0000110972" "0000177881" "0000110973" "0000177882" "0000184022" "0000407960" "0000467695" "0001046985"