### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ABCA1) # 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}}" "ABCA1" "ATP-binding cassette, sub-family A (ABC1), member 1" "9" "q31" "unknown" "NG_007981.1" "UD_132085339804" "" "https://www.LOVD.nl/ABCA1" "" "1" "29" "19" "600046" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ABCA1_codingDNA.html" "1" "" "" "-1" "" "-1" "00008" "2012-06-04 00:00:00" "00006" "2020-11-11 14:46:58" "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}}" "00000207" "ABCA1" "ATP-binding cassette, sub-family A (ABC1), member 1" "001" "NM_005502.3" "" "NP_005493.2" "" "" "" "-404" "10099" "6786" "107690527" "107543283" "00008" "2012-06-04 11:39:33" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00174" "FH" "hypercholesterolemia, familial (FH)" "AD" "" "" "" "" "00006" "2013-08-11 14:06:36" "00006" "2020-02-26 12:49:47" "00175" "TGD" "Tangier disease (TGD)" "AR" "205400" "" "" "" "00006" "2013-08-11 14:07:26" "00006" "2021-12-10 21:51:32" "00176" "HDLCD2" "hypoalphalipoproteinemia (HDL deficiency, type 2 (HDLCD-2))" "" "604091" "" "" "" "00006" "2013-08-11 14:08:14" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04204" "ASD" "septal defect, atrial (ASD)" "" "" "" "" "" "00006" "2015-02-20 21:20:25" "00006" "2015-12-08 23:53:05" "04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" "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}}" "ABCA1" "00174" "ABCA1" "00175" "ABCA1" "00176" ## Individuals ## Do not remove or alter this header ## ## Count = 186 "{{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}}" "00001833" "" "" "" "1" "" "00025" "" "" "F" "" "Germany" "" "" "" "" "white" "" "00001837" "" "" "" "1" "" "00025" "" "" "F" "" "Germany" "" "" "" "" "white" "" "00001838" "" "" "" "1" "" "00025" "" "" "F" "" "Germany;Poland" "" "" "" "" "white" "" "00001839" "" "" "" "1" "" "00025" "" "" "F" "" "Germany" "" "" "" "" "white" "" "00001845" "" "" "" "1" "" "00025" "" "" "F" "" "United Kingdom (Great Britain)" "" "" "" "" "white" "" "00001850" "" "" "" "1" "" "00025" "" "" "F" "" "Spain" "" "" "" "" "white" "" "00001853" "" "" "" "1" "" "00025" "" "" "F" "" "United Kingdom (Great Britain);Cyprus" "" "" "" "" "white" "" "00001856" "" "" "" "1" "" "00025" "" "" "F" "" "Spain" "" "" "" "" "white" "" "00001857" "" "" "" "1" "" "00025" "" "" "F" "" "Spain" "" "" "" "" "white" "" "00001858" "" "" "" "1" "" "00025" "" "" "F" "" "Spain" "" "" "" "" "white" "" "00001861" "" "" "" "1" "" "00025" "" "" "F" "" "Germany" "" "" "" "" "white" "" "00001864" "" "" "" "1" "" "00025" "" "" "F" "" "Germany" "" "" "" "" "white" "" "00001865" "" "" "" "1" "" "00025" "" "" "F" "" "Germany" "" "" "" "" "white" "" "00001868" "" "" "" "1" "" "00025" "" "" "F" "" "Italy" "" "" "" "" "white" "" "00001869" "" "" "" "1" "" "00025" "" "" "F" "" "Italy" "" "" "" "" "white" "" "00001871" "" "" "" "1" "" "00025" "" "" "F" "" "Italy" "" "" "" "" "white" "" "00001873" "" "" "" "1" "" "00025" "" "" "F" "" "United States" "" "" "" "" "white" "" "00001877" "" "" "" "1" "" "00025" "" "" "F" "" "Poland" "" "" "" "" "white" "" "00001880" "" "" "" "1" "" "00025" "" "" "F" "" "Poland" "" "" "" "" "white" "" "00001881" "" "" "" "1" "" "00025" "" "" "F" "" "Poland" "" "" "" "" "white" "" "00001882" "" "" "" "1" "" "00025" "" "" "F" "" "Poland" "" "" "" "" "white" "" "00001887" "" "" "" "1" "" "00025" "" "" "F" "" "Poland" "" "" "" "" "white" "" "00001888" "" "" "" "1" "" "00025" "" "" "F" "" "Poland" "" "" "" "" "white" "" "00001889" "" "" "" "1" "" "00025" "" "" "F" "" "Poland" "" "" "" "" "white" "" "00001891" "" "" "" "1" "" "00025" "" "" "F" "" "Poland" "" "" "" "" "white" "" "00001901" "" "" "" "1" "" "00025" "" "" "F" "" "Switzerland" "" "" "" "" "white" "" "00001955" "" "" "" "1" "" "00025" "" "" "M" "" "Italy" "" "" "" "" "white" "" "00046624" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046625" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046626" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046627" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046628" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046629" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046630" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046631" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046632" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046633" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046634" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046635" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046636" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046637" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046638" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046639" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046640" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046641" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046642" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046643" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046644" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046645" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046646" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046647" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046648" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046649" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046650" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046651" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046652" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046653" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046654" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046655" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046656" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046657" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046658" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046659" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046660" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046661" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046662" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046663" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046664" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046665" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046666" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046667" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046668" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046669" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046670" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046671" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046672" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046673" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046674" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046675" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046676" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046677" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046678" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046679" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046680" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046681" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046682" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046683" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046684" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046685" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046686" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046687" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046688" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046689" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046690" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046691" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046692" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046693" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046694" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046695" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046696" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046697" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046698" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046699" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046700" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046701" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046702" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046703" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046704" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046705" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046706" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046707" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046708" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046709" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046710" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046711" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046712" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046713" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046714" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046715" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046716" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046717" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046718" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046719" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046720" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046721" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046722" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046723" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046724" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046725" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046726" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046727" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046728" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046729" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046730" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046731" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046732" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046733" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046734" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046735" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046736" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046737" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046738" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046739" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046740" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046741" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046742" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046743" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046744" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046745" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046746" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046747" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046748" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046749" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046750" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046751" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046752" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046753" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046754" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046755" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046756" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046757" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046758" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046759" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046760" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046761" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046762" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046763" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046764" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046765" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046766" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046767" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046768" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046769" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046770" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00046771" "" "" "" "1" "" "01350" "Peloso, submitted" "" "" "" "" "" "0" "" "" "" "" "00104965" "" "" "" "1" "" "00006" "{PMID:Bi 2012:22865819}, {DOI:Bi 2012:10.1002/humu.22174}" "" "" "" "" "" "0" "" "" "white" "27866708-Fam1Pat1/2" "00267046" "" "" "" "1" "" "03462" "{PMID:Wong 2019:31617323}, {DOI:Wong 2019:10.1002/mgg3.1007}" "3-generation family" "F" "" "United States" "" "0" "" "" "white" "Fam1PatI1" "00294706" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294707" "" "" "" "25" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294708" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00315501" "" "" "" "1" "" "01602" "{PMID:Neubauer 2021:33895855}" "" "M" "" "Switzerland" "19y" "" "" "" "Europe" "SUDS080" "00428018" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A162" "00438564" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0002" "00451185" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072003" "00451206" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072039" "00451267" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "073313" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 186 "{{individualid}}" "{{diseaseid}}" "00001833" "00000" "00001837" "00000" "00001838" "00000" "00001839" "00000" "00001845" "00000" "00001850" "00000" "00001853" "00000" "00001856" "00000" "00001857" "00000" "00001858" "00000" "00001861" "00000" "00001864" "00000" "00001865" "00000" "00001868" "00000" "00001869" "00000" "00001871" "00000" "00001873" "00000" "00001877" "00000" "00001880" "00000" "00001881" "00000" "00001882" "00000" "00001887" "00000" "00001888" "00000" "00001889" "00000" "00001891" "00000" "00001901" "00000" "00001955" "00000" "00046624" "00198" "00046625" "00198" "00046626" "00198" "00046627" "00198" "00046628" "00198" "00046629" "00198" "00046630" "00198" "00046631" "00198" "00046632" "00198" "00046633" "00198" "00046634" "00198" "00046635" "00198" "00046636" "00198" "00046637" "00198" "00046638" "00198" "00046639" "00198" "00046640" "00198" "00046641" "00198" "00046642" "00198" "00046643" "00198" "00046644" "00198" "00046645" "00198" "00046646" "00198" "00046647" "00198" "00046648" "00198" "00046649" "00198" "00046650" "00198" "00046651" "00198" "00046652" "00198" "00046653" "00198" "00046654" "00198" "00046655" "00198" "00046656" "00198" "00046657" "00198" "00046658" "00198" "00046659" "00198" "00046660" "00198" "00046661" "00198" "00046662" "00198" "00046663" "00198" "00046664" "00198" "00046665" "00198" "00046666" "00198" "00046667" "00198" "00046668" "00198" "00046669" "00198" "00046670" "00198" "00046671" "00198" "00046672" "00198" "00046673" "00198" "00046674" "00198" "00046675" "00198" "00046676" "00198" "00046677" "00198" "00046678" "00198" "00046679" "00198" "00046680" "00198" "00046681" "00198" "00046682" "00198" "00046683" "00198" "00046684" "00198" "00046685" "00198" "00046686" "00198" "00046687" "00198" "00046688" "00198" "00046689" "00198" "00046690" "00198" "00046691" "00198" "00046692" "00198" "00046693" "00198" "00046694" "00198" "00046695" "00198" "00046696" "00198" "00046697" "00198" "00046698" "00198" "00046699" "00198" "00046700" "00198" "00046701" "00198" "00046702" "00198" "00046703" "00198" "00046704" "00198" "00046705" "00198" "00046706" "00198" "00046707" "00198" "00046708" "00198" "00046709" "00198" "00046710" "00198" "00046711" "00198" "00046712" "00198" "00046713" "00198" "00046714" "00198" "00046715" "00198" "00046716" "00198" "00046717" "00198" "00046718" "00198" "00046719" "00198" "00046720" "00198" "00046721" "00198" "00046722" "00198" "00046723" "00198" "00046724" "00198" "00046725" "00198" "00046726" "00198" "00046727" "00198" "00046728" "00198" "00046729" "00198" "00046730" "00198" "00046731" "00198" "00046732" "00198" "00046733" "00198" "00046734" "00198" "00046735" "00198" "00046736" "00198" "00046737" "00198" "00046738" "00198" "00046739" "00198" "00046740" "00198" "00046741" "00198" "00046742" "00198" "00046743" "00198" "00046744" "00198" "00046745" "00198" "00046746" "00198" "00046747" "00198" "00046748" "00198" "00046749" "00198" "00046750" "00198" "00046751" "00198" "00046752" "00198" "00046753" "00198" "00046754" "00198" "00046755" "00198" "00046756" "00198" "00046757" "00198" "00046758" "00198" "00046759" "00198" "00046760" "00198" "00046761" "00198" "00046762" "00198" "00046763" "00198" "00046764" "00198" "00046765" "00198" "00046766" "00198" "00046767" "00198" "00046768" "00198" "00046769" "00198" "00046770" "00198" "00046771" "00198" "00104965" "04204" "00267046" "00174" "00294706" "00198" "00294707" "00198" "00294708" "00198" "00315501" "05166" "00428018" "00198" "00438564" "06906" "00451185" "04249" "00451206" "04249" "00451267" "04249" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00174, 00175, 00176, 00198, 04204, 04249, 05166, 06906 ## Count = 154 "{{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}}" "0000039528" "00198" "00046624" "01350" "Unknown" "" "HDL=56 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039529" "00198" "00046625" "01350" "Unknown" "" "HDL=41 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039530" "00198" "00046626" "01350" "Unknown" "" "HDL=63 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039531" "00198" "00046627" "01350" "Unknown" "" "HDL=32 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039532" "00198" "00046628" "01350" "Unknown" "" "HDL=54 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039533" "00198" "00046629" "01350" "Unknown" "" "HDL=41 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039534" "00198" "00046630" "01350" "Unknown" "" "HDL=55 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039535" "00198" "00046631" "01350" "Unknown" "" "HDL=37 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039536" "00198" "00046632" "01350" "Unknown" "" "HDL=81 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039537" "00198" "00046633" "01350" "Unknown" "" "HDL=46 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039538" "00198" "00046634" "01350" "Unknown" "" "HDL=65 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039539" "00198" "00046635" "01350" "Unknown" "" "HDL=74 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039540" "00198" "00046636" "01350" "Unknown" "" "HDL=61 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039541" "00198" "00046637" "01350" "Unknown" "" "HDL=37 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039542" "00198" "00046638" "01350" "Unknown" "" "HDL=42 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039543" "00198" "00046639" "01350" "Unknown" "" "HDL=28 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039544" "00198" "00046640" "01350" "Unknown" "" "HDL=28 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039545" "00198" "00046641" "01350" "Unknown" "" "HDL=40 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039546" "00198" "00046642" "01350" "Unknown" "" "HDL=30 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039547" "00198" "00046643" "01350" "Unknown" "" "HDL=22 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039548" "00198" "00046644" "01350" "Unknown" "" "HDL=46 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039549" "00198" "00046645" "01350" "Unknown" "" "HDL=47 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039550" "00198" "00046646" "01350" "Unknown" "" "HDL=37 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039551" "00198" "00046647" "01350" "Unknown" "" "HDL=58 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039552" "00198" "00046648" "01350" "Unknown" "" "HDL=81 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039553" "00198" "00046649" "01350" "Unknown" "" "HDL=54 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039554" "00198" "00046650" "01350" "Unknown" "" "HDL=59 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039555" "00198" "00046651" "01350" "Unknown" "" "HDL=37 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039556" "00198" "00046652" "01350" "Unknown" "" "HDL=59 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039557" "00198" "00046653" "01350" "Unknown" "" "HDL=51 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039558" "00198" "00046654" "01350" "Unknown" "" "HDL=28 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039559" "00198" "00046655" "01350" "Unknown" "" "HDL=60 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039560" "00198" "00046656" "01350" "Unknown" "" "HDL=69 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039561" "00198" "00046657" "01350" "Unknown" "" "HDL=54 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039562" "00198" "00046658" "01350" "Unknown" "" "HDL=46 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039563" "00198" "00046659" "01350" "Unknown" "" "HDL=37 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039564" "00198" "00046660" "01350" "Unknown" "" "HDL=41 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039565" "00198" "00046661" "01350" "Unknown" "" "HDL=31 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039566" "00198" "00046662" "01350" "Unknown" "" "HDL=36 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039567" "00198" "00046663" "01350" "Unknown" "" "HDL=44 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039568" "00198" "00046664" "01350" "Unknown" "" "HDL=54 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039569" "00198" "00046665" "01350" "Unknown" "" "HDL=52 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039570" "00198" "00046666" "01350" "Unknown" "" "HDL=42 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039571" "00198" "00046667" "01350" "Unknown" "" "HDL=30 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039572" "00198" "00046668" "01350" "Unknown" "" "HDL=70 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039573" "00198" "00046669" "01350" "Unknown" "" "HDL=49 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039574" "00198" "00046670" "01350" "Unknown" "" "HDL=43 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039575" "00198" "00046671" "01350" "Unknown" "" "HDL=63 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039576" "00198" "00046672" "01350" "Unknown" "" "HDL=33 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039577" "00198" "00046673" "01350" "Unknown" "" "HDL=68 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039578" "00198" "00046674" "01350" "Unknown" "" "HDL=62 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039579" "00198" "00046675" "01350" "Unknown" "" "HDL=16 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039580" "00198" "00046676" "01350" "Unknown" "" "HDL=48 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039581" "00198" "00046677" "01350" "Unknown" "" "HDL=30 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039582" "00198" "00046678" "01350" "Unknown" "" "HDL=55 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039583" "00198" "00046679" "01350" "Unknown" "" "HDL=81 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039584" "00198" "00046680" "01350" "Unknown" "" "HDL=35 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039585" "00198" "00046681" "01350" "Unknown" "" "HDL=55 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039586" "00198" "00046682" "01350" "Unknown" "" "HDL=48 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039587" "00198" "00046683" "01350" "Unknown" "" "HDL=39 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039588" "00198" "00046684" "01350" "Unknown" "" "HDL=65 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039589" "00198" "00046685" "01350" "Unknown" "" "HDL=66 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039590" "00198" "00046686" "01350" "Unknown" "" "HDL=35 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039591" "00198" "00046687" "01350" "Unknown" "" "HDL=52 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039592" "00198" "00046688" "01350" "Unknown" "" "HDL=60 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039593" "00198" "00046689" "01350" "Unknown" "" "HDL=44 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039594" "00198" "00046690" "01350" "Unknown" "" "HDL=34 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039595" "00198" "00046691" "01350" "Unknown" "" "HDL=41 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039596" "00198" "00046692" "01350" "Unknown" "" "HDL=37 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039597" "00198" "00046693" "01350" "Unknown" "" "HDL=86 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039598" "00198" "00046694" "01350" "Unknown" "" "HDL=92 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039599" "00198" "00046695" "01350" "Unknown" "" "HDL=39 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039600" "00198" "00046696" "01350" "Unknown" "" "HDL=44 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039601" "00198" "00046697" "01350" "Unknown" "" "HDL=51 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039602" "00198" "00046698" "01350" "Unknown" "" "HDL=49 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039603" "00198" "00046699" "01350" "Unknown" "" "HDL=56 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039604" "00198" "00046700" "01350" "Unknown" "" "HDL=58 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039605" "00198" "00046701" "01350" "Unknown" "" "HDL=52 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039606" "00198" "00046702" "01350" "Unknown" "" "HDL=66 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039607" "00198" "00046703" "01350" "Unknown" "" "HDL=45 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039608" "00198" "00046704" "01350" "Unknown" "" "HDL=49 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039609" "00198" "00046705" "01350" "Unknown" "" "HDL=54 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039610" "00198" "00046706" "01350" "Unknown" "" "HDL=70 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039611" "00198" "00046707" "01350" "Unknown" "" "HDL=55 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039612" "00198" "00046708" "01350" "Unknown" "" "HDL=44 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039613" "00198" "00046709" "01350" "Unknown" "" "HDL=53 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039614" "00198" "00046710" "01350" "Unknown" "" "HDL=30 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039615" "00198" "00046711" "01350" "Unknown" "" "HDL=39 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039616" "00198" "00046712" "01350" "Unknown" "" "HDL=35 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039617" "00198" "00046713" "01350" "Unknown" "" "HDL=48 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039618" "00198" "00046714" "01350" "Unknown" "" "HDL=64 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039619" "00198" "00046715" "01350" "Unknown" "" "HDL=50 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039620" "00198" "00046716" "01350" "Unknown" "" "HDL=48 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039621" "00198" "00046717" "01350" "Unknown" "" "HDL=35 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039622" "00198" "00046718" "01350" "Unknown" "" "HDL=46 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039623" "00198" "00046719" "01350" "Unknown" "" "HDL=41 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039624" "00198" "00046720" "01350" "Unknown" "" "HDL=96 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039625" "00198" "00046721" "01350" "Unknown" "" "HDL=115 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039626" "00198" "00046722" "01350" "Unknown" "" "HDL=30 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039627" "00198" "00046723" "01350" "Unknown" "" "HDL=85 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039628" "00198" "00046724" "01350" "Unknown" "" "HDL=26 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039629" "00198" "00046725" "01350" "Unknown" "" "HDL=33 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039630" "00198" "00046726" "01350" "Unknown" "" "HDL=41 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039631" "00198" "00046727" "01350" "Unknown" "" "HDL=31 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039632" "00198" "00046728" "01350" "Unknown" "" "HDL=41 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039633" "00198" "00046729" "01350" "Unknown" "" "HDL=40 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039634" "00198" "00046730" "01350" "Unknown" "" "HDL=41 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039635" "00198" "00046731" "01350" "Unknown" "" "HDL=82 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039636" "00198" "00046732" "01350" "Unknown" "" "HDL=26 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039637" "00198" "00046733" "01350" "Unknown" "" "HDL=36 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039638" "00198" "00046734" "01350" "Unknown" "" "HDL=30 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039639" "00198" "00046735" "01350" "Unknown" "" "HDL=126 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039640" "00198" "00046736" "01350" "Unknown" "" "HDL=103 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039641" "00198" "00046737" "01350" "Unknown" "" "HDL=42 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039642" "00198" "00046738" "01350" "Unknown" "" "HDL=105 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039643" "00198" "00046739" "01350" "Unknown" "" "HDL=26 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039644" "00198" "00046740" "01350" "Unknown" "" "HDL=120 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039645" "00198" "00046741" "01350" "Unknown" "" "HDL=23 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039646" "00198" "00046742" "01350" "Unknown" "" "HDL=29 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039647" "00198" "00046743" "01350" "Unknown" "" "HDL=113 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039648" "00198" "00046744" "01350" "Unknown" "" "HDL=106 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039649" "00198" "00046745" "01350" "Unknown" "" "HDL=41 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039650" "00198" "00046746" "01350" "Unknown" "" "HDL=30 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039651" "00198" "00046747" "01350" "Unknown" "" "HDL=34 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039652" "00198" "00046748" "01350" "Unknown" "" "HDL=29 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039653" "00198" "00046749" "01350" "Unknown" "" "HDL=23 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039654" "00198" "00046750" "01350" "Unknown" "" "HDL=123 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039655" "00198" "00046751" "01350" "Unknown" "" "HDL=35 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039656" "00198" "00046752" "01350" "Unknown" "" "HDL=81 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039657" "00198" "00046753" "01350" "Unknown" "" "HDL=101 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039658" "00198" "00046754" "01350" "Unknown" "" "HDL=41 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039659" "00198" "00046755" "01350" "Unknown" "" "HDL=30 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039660" "00198" "00046756" "01350" "Unknown" "" "HDL=26 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039661" "00198" "00046757" "01350" "Unknown" "" "HDL=40 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039662" "00198" "00046758" "01350" "Unknown" "" "HDL=34 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039663" "00198" "00046759" "01350" "Unknown" "" "HDL=31 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039664" "00198" "00046760" "01350" "Unknown" "" "HDL=31 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039665" "00198" "00046761" "01350" "Unknown" "" "HDL=34 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039666" "00198" "00046762" "01350" "Unknown" "" "HDL=27 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039667" "00198" "00046763" "01350" "Unknown" "" "HDL=30 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039668" "00198" "00046764" "01350" "Unknown" "" "HDL=41 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039669" "00198" "00046765" "01350" "Unknown" "" "HDL=29 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039670" "00198" "00046766" "01350" "Unknown" "" "HDL=29 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039671" "00198" "00046767" "01350" "Unknown" "" "HDL=27 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039672" "00198" "00046768" "01350" "Unknown" "" "HDL=39 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039673" "00198" "00046769" "01350" "Unknown" "" "HDL=30 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039674" "00198" "00046770" "01350" "Unknown" "" "HDL=29 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000039675" "00198" "00046771" "01350" "Unknown" "" "HDL=74 mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000082847" "04204" "00104965" "00006" "Unknown" "" "autism spectrum disorder" "" "" "" "" "" "" "" "" "" "" "" "0000082856" "00138" "00104965" "00006" "Unknown" "" "autism spectrum disorder" "" "" "" "" "" "" "" "" "" "" "" "0000204976" "00174" "00267046" "03462" "Familial, autosomal dominant" "06y" "LDL 719mg/dl" "" "" "" "" "" "" "" "" "Homozygous familial hypercholesterolemia" "Homozygous familial hypercholesterolemia" "" "0000318964" "00198" "00428018" "00006" "Familial, autosomal dominant" "50y" "" "" "" "" "" "" "" "" "" "HDL deficiency, familial, 1" "" "" "0000322111" "05166" "00315501" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" "0000328467" "06906" "00438564" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 186 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000002230" "00001833" "1" "00025" "00006" "2010-03-11 15:48:00" "" "" "SEQ" "DNA" "" "" "0000002232" "00001837" "1" "00025" "00006" "2010-03-15 15:12:18" "" "" "SEQ" "DNA" "" "" "0000002233" "00001838" "1" "00025" "00006" "2010-03-15 16:16:49" "" "" "SEQ" "DNA" "" "" "0000002234" "00001839" "1" "00025" "00006" "2010-03-15 16:40:45" "" "" "SEQ" "DNA" "" "" "0000002237" "00001845" "1" "00025" "00006" "2010-03-22 18:34:49" "" "" "SEQ" "DNA" "" "" "0000002239" "00001850" "1" "00025" "00006" "2010-03-24 18:09:16" "" "" "SEQ" "DNA" "" "" "0000002242" "00001853" "1" "00025" "00006" "2010-03-24 18:34:27" "" "" "SEQ" "DNA" "" "" "0000002244" "00001856" "1" "00025" "00006" "2010-03-25 18:12:48" "" "" "SEQ" "DNA" "" "" "0000002245" "00001857" "1" "00025" "00006" "2010-03-25 18:20:02" "" "" "SEQ" "DNA" "" "" "0000002246" "00001858" "1" "00025" "00006" "2010-03-25 18:39:01" "" "" "SEQ" "DNA" "" "" "0000002248" "00001861" "1" "00025" "00006" "2010-03-29 18:13:43" "" "" "SEQ" "DNA" "" "" "0000002250" "00001864" "1" "00025" "00006" "2010-04-21 13:45:46" "" "" "SEQ" "DNA" "" "" "0000002251" "00001865" "1" "00025" "00006" "2010-04-21 13:57:26" "" "" "SEQ" "DNA" "" "" "0000002253" "00001868" "1" "00025" "00006" "2010-04-21 14:38:18" "" "" "SEQ" "DNA" "" "" "0000002254" "00001869" "0" "00025" "00006" "2010-04-21 14:43:54" "" "" "SEQ" "DNA" "" "" "0000002255" "00001871" "1" "00025" "00006" "2010-04-21 14:59:33" "" "" "SEQ" "DNA" "" "" "0000002257" "00001873" "1" "00025" "00006" "2010-04-21 15:42:00" "" "" "SEQ" "DNA" "" "" "0000002260" "00001877" "0" "00025" "00006" "2010-05-04 16:08:28" "" "" "SEQ" "DNA" "" "" "0000002263" "00001880" "1" "00025" "00006" "2012-04-16 11:39:32" "" "" "SEQ" "DNA" "" "" "0000002264" "00001881" "1" "00025" "00006" "2012-04-16 11:46:54" "" "" "SEQ" "DNA" "" "" "0000002265" "00001882" "1" "00025" "00006" "2012-04-16 11:52:09" "" "" "SEQ" "DNA" "" "" "0000002269" "00001887" "0" "00025" "00006" "2012-04-16 12:46:42" "" "" "SEQ" "DNA" "" "" "0000002270" "00001888" "1" "00025" "00006" "2012-04-16 13:09:17" "" "" "SEQ" "DNA" "" "" "0000002271" "00001889" "0" "00025" "00006" "2012-04-16 13:19:01" "" "" "SEQ" "DNA" "" "" "0000002273" "00001891" "0" "00025" "00006" "2012-04-16 14:31:37" "" "" "SEQ" "DNA" "" "" "0000002282" "00001901" "1" "00025" "00006" "2012-04-17 11:58:49" "" "" "SEQ" "DNA" "" "" "0000002286" "00001955" "0" "00025" "00006" "2012-05-18 13:18:03" "" "" "SEQ" "DNA" "" "" "0000046733" "00046624" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046734" "00046625" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046735" "00046626" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046736" "00046627" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046737" "00046628" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046738" "00046629" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046739" "00046630" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046740" "00046631" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046741" "00046632" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046742" "00046633" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046743" "00046634" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046744" "00046635" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046745" "00046636" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046746" "00046637" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046747" "00046638" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046748" "00046639" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046749" "00046640" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046750" "00046641" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046751" "00046642" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046752" "00046643" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046753" "00046644" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046754" "00046645" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046755" "00046646" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046756" "00046647" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046757" "00046648" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046758" "00046649" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046759" "00046650" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046760" "00046651" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046761" "00046652" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046762" "00046653" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046763" "00046654" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046764" "00046655" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046765" "00046656" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046766" "00046657" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046767" "00046658" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046768" "00046659" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046769" "00046660" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046770" "00046661" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046771" "00046662" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046772" "00046663" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046773" "00046664" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046774" "00046665" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046775" "00046666" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046776" "00046667" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046777" "00046668" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046778" "00046669" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046779" "00046670" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046780" "00046671" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046781" "00046672" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046782" "00046673" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046783" "00046674" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046784" "00046675" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046785" "00046676" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046786" "00046677" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046787" "00046678" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046788" "00046679" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046789" "00046680" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046790" "00046681" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046791" "00046682" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046792" "00046683" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046793" "00046684" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046794" "00046685" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046795" "00046686" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046796" "00046687" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046797" "00046688" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046798" "00046689" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046799" "00046690" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046800" "00046691" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046801" "00046692" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046802" "00046693" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046803" "00046694" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046804" "00046695" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046805" "00046696" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046806" "00046697" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046807" "00046698" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046808" "00046699" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046809" "00046700" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046810" "00046701" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046811" "00046702" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046812" "00046703" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046813" "00046704" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046814" "00046705" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046815" "00046706" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046816" "00046707" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046817" "00046708" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046818" "00046709" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046819" "00046710" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046820" "00046711" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046821" "00046712" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046822" "00046713" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046823" "00046714" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046824" "00046715" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046825" "00046716" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046826" "00046717" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046827" "00046718" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046828" "00046719" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046829" "00046720" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046830" "00046721" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046831" "00046722" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046832" "00046723" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046833" "00046724" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046834" "00046725" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046835" "00046726" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046836" "00046727" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046837" "00046728" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046838" "00046729" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046839" "00046730" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046840" "00046731" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046841" "00046732" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046842" "00046733" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046843" "00046734" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046844" "00046735" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046845" "00046736" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046846" "00046737" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046847" "00046738" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046848" "00046739" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046849" "00046740" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046850" "00046741" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046851" "00046742" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046852" "00046743" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046853" "00046744" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046854" "00046745" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046855" "00046746" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046856" "00046747" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046857" "00046748" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046858" "00046749" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046859" "00046750" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046860" "00046751" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046861" "00046752" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046862" "00046753" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046863" "00046754" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046864" "00046755" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046865" "00046756" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046866" "00046757" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046867" "00046758" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046868" "00046759" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046869" "00046760" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046870" "00046761" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046871" "00046762" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046872" "00046763" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046873" "00046764" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046874" "00046765" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046875" "00046766" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046876" "00046767" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046877" "00046768" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046878" "00046769" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046879" "00046770" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000046880" "00046771" "1" "01350" "00008" "2015-07-23 15:30:16" "" "" "SEQ-NG" "DNA" "" "" "0000105438" "00104965" "1" "00006" "00006" "2017-06-13 23:33:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000268175" "00267046" "1" "03462" "03462" "2019-11-01 01:23:56" "" "" "SEQ-NG" "DNA" "" "" "0000295874" "00294706" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295875" "00294707" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295876" "00294708" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000316680" "00315501" "1" "01602" "01602" "2020-10-27 16:29:17" "01602" "2023-02-15 09:48:01" "SEQ-NG" "DNA" "" "" "0000429431" "00428018" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "singleton WES" "0000440046" "00438564" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000452784" "00451185" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452805" "00451206" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452866" "00451267" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 177 "{{screeningid}}" "{{geneid}}" "0000002230" "ABCA1" "0000002232" "ABCA1" "0000002233" "ABCA1" "0000002234" "ABCA1" "0000002237" "ABCA1" "0000002239" "ABCA1" "0000002242" "ABCA1" "0000002244" "ABCA1" "0000002245" "ABCA1" "0000002246" "ABCA1" "0000002248" "ABCA1" "0000002250" "ABCA1" "0000002251" "ABCA1" "0000002253" "ABCA1" "0000002254" "ABCA1" "0000002255" "ABCA1" "0000002257" "ABCA1" "0000002260" "ABCA1" "0000002263" "ABCA1" "0000002264" "ABCA1" "0000002265" "ABCA1" "0000002269" "ABCA1" "0000002270" "ABCA1" "0000002271" "ABCA1" "0000002273" "ABCA1" "0000002282" "ABCA1" "0000002286" "ABCA1" "0000046733" "ABCA1" "0000046734" "ABCA1" "0000046735" "ABCA1" "0000046736" "ABCA1" "0000046737" "ABCA1" "0000046738" "ABCA1" "0000046739" "ABCA1" "0000046740" "ABCA1" "0000046741" "ABCA1" "0000046742" "ABCA1" "0000046743" "ABCA1" "0000046744" "ABCA1" "0000046745" "ABCA1" "0000046746" "ABCA1" "0000046747" "ABCA1" "0000046748" "ABCA1" "0000046749" "ABCA1" "0000046750" "ABCA1" "0000046751" "ABCA1" "0000046752" "ABCA1" "0000046753" "ABCA1" "0000046754" "ABCA1" "0000046755" "ABCA1" "0000046756" "ABCA1" "0000046757" "ABCA1" "0000046758" "ABCA1" "0000046759" "ABCA1" "0000046760" "ABCA1" "0000046761" "ABCA1" "0000046762" "ABCA1" "0000046763" "ABCA1" "0000046764" "ABCA1" "0000046765" "ABCA1" "0000046766" "ABCA1" "0000046767" "ABCA1" "0000046768" "ABCA1" "0000046769" "ABCA1" "0000046770" "ABCA1" "0000046771" "ABCA1" "0000046772" "ABCA1" "0000046773" "ABCA1" "0000046774" "ABCA1" "0000046775" "ABCA1" "0000046776" "ABCA1" "0000046777" "ABCA1" "0000046778" "ABCA1" "0000046779" "ABCA1" "0000046780" "ABCA1" "0000046781" "ABCA1" "0000046782" "ABCA1" "0000046783" "ABCA1" "0000046784" "ABCA1" "0000046785" "ABCA1" "0000046786" "ABCA1" "0000046787" "ABCA1" "0000046788" "ABCA1" "0000046789" "ABCA1" "0000046790" "ABCA1" "0000046791" "ABCA1" "0000046792" "ABCA1" "0000046793" "ABCA1" "0000046794" "ABCA1" "0000046795" "ABCA1" "0000046796" "ABCA1" "0000046797" "ABCA1" "0000046798" "ABCA1" "0000046799" "ABCA1" "0000046800" "ABCA1" "0000046801" "ABCA1" "0000046802" "ABCA1" "0000046803" "ABCA1" "0000046804" "ABCA1" "0000046805" "ABCA1" "0000046806" "ABCA1" "0000046807" "ABCA1" "0000046808" "ABCA1" "0000046809" "ABCA1" "0000046810" "ABCA1" "0000046811" "ABCA1" "0000046812" "ABCA1" "0000046813" "ABCA1" "0000046814" "ABCA1" "0000046815" "ABCA1" "0000046816" "ABCA1" "0000046817" "ABCA1" "0000046818" "ABCA1" "0000046819" "ABCA1" "0000046820" "ABCA1" "0000046821" "ABCA1" "0000046822" "ABCA1" "0000046823" "ABCA1" "0000046824" "ABCA1" "0000046825" "ABCA1" "0000046826" "ABCA1" "0000046827" "ABCA1" "0000046828" "ABCA1" "0000046829" "ABCA1" "0000046830" "ABCA1" "0000046831" "ABCA1" "0000046832" "ABCA1" "0000046833" "ABCA1" "0000046834" "ABCA1" "0000046835" "ABCA1" "0000046836" "ABCA1" "0000046837" "ABCA1" "0000046838" "ABCA1" "0000046839" "ABCA1" "0000046840" "ABCA1" "0000046841" "ABCA1" "0000046842" "ABCA1" "0000046843" "ABCA1" "0000046844" "ABCA1" "0000046845" "ABCA1" "0000046846" "ABCA1" "0000046847" "ABCA1" "0000046848" "ABCA1" "0000046849" "ABCA1" "0000046850" "ABCA1" "0000046851" "ABCA1" "0000046852" "ABCA1" "0000046853" "ABCA1" "0000046854" "ABCA1" "0000046855" "ABCA1" "0000046856" "ABCA1" "0000046857" "ABCA1" "0000046858" "ABCA1" "0000046859" "ABCA1" "0000046860" "ABCA1" "0000046861" "ABCA1" "0000046862" "ABCA1" "0000046863" "ABCA1" "0000046864" "ABCA1" "0000046865" "ABCA1" "0000046866" "ABCA1" "0000046867" "ABCA1" "0000046868" "ABCA1" "0000046869" "ABCA1" "0000046870" "ABCA1" "0000046871" "ABCA1" "0000046872" "ABCA1" "0000046873" "ABCA1" "0000046874" "ABCA1" "0000046875" "ABCA1" "0000046876" "ABCA1" "0000046877" "ABCA1" "0000046878" "ABCA1" "0000046879" "ABCA1" "0000046880" "ABCA1" "0000105438" "ABCA1" "0000268175" "LDLR" ## 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 = 1144 "{{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}}" "0000001337" "0" "70" "9" "107594868" "107594868" "subst" "0" "00013" "ABCA1_000001" "g.107594868G>C" "1/67 patients" "{PMID:Bi 2012:22865819}, {DOI:Bi 2012:10.1002/humu.22174}" "" "c.1496C>G;p.(S499C)" "" "Unknown" "" "" "0" "" "" "g.104832587G>C" "" "likely pathogenic" "" "0000020523" "1" "55" "9" "107562804" "107562804" "subst" "0.7093" "00025" "ABCA1_000002" "g.107562804T>C" "" "{PMID:Fitzky et al. 1998:9653161}" "" "" "" "Unknown" "" "" "0" "" "" "g.104800523T>C" "" "VUS" "" "0000020524" "1" "55" "9" "107562804" "107562804" "subst" "0.7093" "00025" "ABCA1_000002" "g.107562804T>C" "" "{PMID:Witsch-Baumgartner et al. 2000:10677299}, {PMID:Witsch-Baumgartner et al. 2008:17965227}" "" "" "" "Unknown" "" "" "0" "" "" "g.104800523T>C" "" "VUS" "" "0000020525" "1" "55" "9" "107562804" "107562804" "subst" "0.7093" "00025" "ABCA1_000002" "g.107562804T>C" "" "{PMID:Fitzky et al. 1998:9653161}" "" "" "" "Unknown" "" "" "0" "" "" "g.104800523T>C" "" "VUS" "" "0000020526" "1" "55" "9" "107562804" "107562804" "subst" "0.7093" "00025" "ABCA1_000002" "g.107562804T>C" "" "{PMID:Fitzky et al. 1998:9653161}" "" "" "" "Unknown" "" "" "0" "" "" "g.104800523T>C" "" "VUS" "" "0000020527" "1" "55" "9" "107562804" "107562804" "subst" "0.7093" "00025" "ABCA1_000002" "g.107562804T>C" "" "{PMID:Yu et al. 2000:10814720}" "" "" "" "Unknown" "" "" "0" "" "" "g.104800523T>C" "" "VUS" "" "0000020528" "1" "55" "9" "107562804" "107562804" "subst" "0.7093" "00025" "ABCA1_000002" "g.107562804T>C" "" "{PMID:Witsch-Baumgartner et al. 2000:10677299}" "" "" "" "Unknown" "" "" "0" "" "" "g.104800523T>C" "" "VUS" "" "0000020529" "1" "55" "9" "107562804" "107562804" "subst" "0.7093" "00025" "ABCA1_000002" "g.107562804T>C" "" "{PMID:Witsch-Baumgartner et al. 2000:10677299}, {PMID:Witsch-Baumgartner et al. 2008:17965227}" "" "" "" "Unknown" "" "" "0" "" "" "g.104800523T>C" "" "VUS" "" "0000020530" "1" "55" "9" "107562804" "107562804" "subst" "0.7093" "00025" "ABCA1_000002" "g.107562804T>C" "" "{PMID:Jira et al. 2001:11427181}" "" "" "" "Unknown" "" "" "0" "" "" "g.104800523T>C" "" "VUS" "" "0000020531" "1" "55" "9" "107562804" "107562804" "subst" "0.7093" "00025" "ABCA1_000002" "g.107562804T>C" "" "{PMID:Fitzky et al. 1998:9653161}" "" "" "" "Unknown" "" "" "0" "" "" "g.104800523T>C" "" "VUS" "" "0000020532" "1" "55" "9" "107562804" "107562804" "subst" "0.7093" "00025" "ABCA1_000002" "g.107562804T>C" "" "{PMID:Yu et al. 2000:10814720}" "" "" "" "Unknown" "" "" "0" "" "" "g.104800523T>C" "" "VUS" "" "0000020533" "1" "55" "9" "107562804" "107562804" "subst" "0.7093" "00025" "ABCA1_000002" "g.107562804T>C" "" "{PMID:Fitzky et al. 1998:9653161}, {PMID:Witsch-Baumgartner et al. 2008:17965227}" "" "" "" "Unknown" "" "" "0" "" "" "g.104800523T>C" "" "VUS" "" "0000020534" "1" "55" "9" "107562804" "107562804" "subst" "0.7093" "00025" "ABCA1_000002" "g.107562804T>C" "" "{PMID:Fitzky et al. 1998:9653161}" "" "" "" "Unknown" "" "" "0" "" "" "g.104800523T>C" "" "VUS" "" "0000020535" "1" "55" "9" "107562804" "107562804" "subst" "0.7093" "00025" "ABCA1_000002" "g.107562804T>C" "" "{PMID:Witsch-Baumgartner et al. 2000:10677299}, {PMID:Witsch-Baumgartner et al. 2008:17965227}" "" "" "" "Unknown" 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"Unknown" "" "" "0" "" "" "g.104826965T>G" "" "" "" "0000075339" "0" "00" "9" "107589246" "107589246" "subst" "0.00206159" "01350" "ABCA1_000009" "g.107589246T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.104826965T>G" "" "" "" "0000075340" "0" "00" "9" "107589246" "107589246" "subst" "0.00206159" "01350" "ABCA1_000009" "g.107589246T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.104826965T>G" "" "" "" "0000075341" "0" "00" "9" "107589246" "107589246" "subst" "0.00206159" "01350" "ABCA1_000009" "g.107589246T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.104826965T>G" "" "" "" "0000075342" "0" "00" "9" "107591334" "107591334" "subst" "8.12275E-6" "01350" "ABCA1_000025" "g.107591334C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.104829053C>T" "" "" "" "0000075343" "0" "00" "9" "107593329" "107593329" "subst" "6.09191E-5" "01350" "ABCA1_000032" "g.107593329C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.104831048C>A" "" "" "" "0000075344" "0" "00" "9" "107594878" "107594878" "subst" "0.000556332" "01350" "ABCA1_000027" "g.107594878G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.104832597G>A" "" "" "" "0000075345" "0" "00" "9" "107594878" "107594878" "subst" "0.000556332" "01350" "ABCA1_000027" "g.107594878G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.104832597G>A" "" "" "" "0000075346" "0" "00" "9" "107595026" "107595026" "subst" "0.000475158" "01350" "ABCA1_000028" "g.107595026G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.104832745G>C" "" "" "" "0000075347" "0" "00" "9" "107599376" "107599376" "subst" "0.00365255" "01350" "ABCA1_000031" "g.107599376A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.104837095A>G" "" "" "" "0000075348" "0" "00" "9" "107599376" "107599376" "subst" "0.00365255" "01350" "ABCA1_000031" "g.107599376A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.104837095A>G" "" "" "" "0000075349" "0" "00" "9" "107599376" "107599376" "subst" "0.00365255" "01350" "ABCA1_000031" "g.107599376A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.104837095A>G" "" "" "" "0000075350" "0" "00" "9" "107599376" "107599376" "subst" "0.00365255" "01350" "ABCA1_000031" "g.107599376A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.104837095A>G" "" "" "" "0000075351" "0" "00" "9" "107599376" "107599376" "subst" "0.00365255" "01350" "ABCA1_000031" "g.107599376A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.104837095A>G" "" "" "" "0000075352" "0" "00" "9" "107599376" "107599376" "subst" "0.00365255" "01350" "ABCA1_000031" "g.107599376A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.104837095A>G" "" "" "" "0000075353" "0" "00" "9" "107599376" "107599376" "subst" "0.00365255" "01350" "ABCA1_000031" "g.107599376A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.104837095A>G" "" "" "" "0000075354" "0" "00" "9" "107599376" "107599376" "subst" "0.00365255" "01350" "ABCA1_000031" "g.107599376A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.104837095A>G" "" "" "" "0000075355" "0" "00" "9" "107599376" "107599376" "subst" "0.00365255" "01350" "ABCA1_000031" "g.107599376A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.104837095A>G" "" "" "" "0000075356" "0" "00" "9" "107599376" "107599376" "subst" "0.00365255" "01350" "ABCA1_000031" "g.107599376A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.104837095A>G" "" "" "" "0000075357" "0" "00" "9" "107607822" "107607822" "subst" "9.7511E-5" "01350" "ABCA1_000035" "g.107607822G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.104845541G>A" "" "" "" "0000075358" "0" "00" "9" "107607828" "107607828" "subst" "0" "01350" "ABCA1_000036" "g.107607828G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.104845547G>A" "" "" "" "0000075359" "0" "00" "9" "107645379" "107645379" "subst" "0" "01350" "ABCA1_000040" "g.107645379C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.104883098C>G" "" "" "" "0000075360" "0" "00" "9" "107651451" "107651451" "subst" "0" "01350" "ABCA1_000042" "g.107651451C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.104889170C>A" "" "" "" "0000246781" "0" "10" "9" "107556811" "107556811" "del" "0" "02330" "ABCA1_000076" "g.107556811del" "" "" "" "ABCA1(NM_005502.3):c.5383-3delT, ABCA1(NM_005502.4):c.5383-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104794530del" "" "benign" "" "0000246802" "0" "10" "9" "107554274" "107554274" "subst" "0.0086922" "02330" "ABCA1_000155" "g.107554274A>G" "" "" "" "ABCA1(NM_005502.4):c.5763T>C (p.Y1921=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104791993A>G" "" "benign" "" "0000246803" "0" "10" "9" "107558415" "107558415" "subst" "0.000459338" "02330" "ABCA1_000170" "g.107558415A>G" "" "" "" "ABCA1(NM_005502.3):c.5301T>C (p.Y1767=), ABCA1(NM_005502.4):c.5301T>C (p.Y1767=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104796134A>G" "" "benign" "" "0000246804" "0" "10" "9" "107581949" "107581949" "subst" "0.0075621" "02330" "ABCA1_000081" "g.107581949A>C" "" "" "" "ABCA1(NM_005502.4):c.3159T>G (p.V1053=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104819668A>C" "" "benign" "" "0000246821" "0" "10" "9" "107602728" "107602728" "subst" "7.30982E-5" "02330" "ABCA1_000133" "g.107602728A>T" "" "" "" "ABCA1(NM_005502.4):c.886T>A (p.S296T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104840447A>T" "" "benign" "" "0000246823" "0" "10" "9" "107599376" "107599376" "subst" "0.00365255" "02330" "ABCA1_000031" "g.107599376A>G" "" "" "" "ABCA1(NM_005502.3):c.1196T>C (p.V399A), ABCA1(NM_005502.4):c.1196T>C (p.V399A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104837095A>G" "" "benign" "" "0000246824" "0" "10" "9" "107553185" "107553185" "subst" "0.180177" "02330" "ABCA1_000152" "g.107553185A>G" "" "" "" "ABCA1(NM_005502.4):c.5927+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104790904A>G" "" "benign" "" "0000246825" "0" "10" "9" "107564328" "107564328" "subst" "0.00136915" "02330" "ABCA1_000079" "g.107564328A>G" "" "" "" "ABCA1(NM_005502.4):c.4698+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104802047A>G" "" "benign" "" "0000246826" "0" "10" "9" "107565551" "107565551" "subst" "4.06085E-6" "02330" "ABCA1_000080" "g.107565551A>G" "" "" "" "ABCA1(NM_005502.4):c.4592+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104803270A>G" "" "benign" "" "0000246827" "0" "10" "9" "107588185" "107588185" "subst" "0.0036788" "02330" "ABCA1_000102" "g.107588185A>G" "" "" "" "ABCA1(NM_005502.4):c.2338-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104825904A>G" "" "benign" "" "0000246828" "0" "10" "9" "107599855" "107599855" "subst" "0.00168146" "02330" "ABCA1_000129" "g.107599855A>G" "" "" "" "ABCA1(NM_005502.4):c.1055-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104837574A>G" "" "benign" "" "0000246829" "0" "10" "9" "107620791" "107620791" "subst" "4.87337E-5" "02330" "ABCA1_000138" "g.107620791A>G" "" "" "" "ABCA1(NM_005502.4):c.720+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104858510A>G" "" "benign" "" "0000246830" "0" "10" "9" "107620797" "107620797" "subst" "0.0010193" "02330" "ABCA1_000139" "g.107620797A>G" "" "" "" "ABCA1(NM_005502.4):c.720+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104858516A>G" "" "benign" "" "0000246838" "0" "30" "9" "107588124" "107588124" "subst" "6.90389E-5" "02330" "ABCA1_000100" "g.107588124A>G" "" "" "" "ABCA1(NM_005502.4):c.2382T>C (p.F794=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104825843A>G" "" "likely benign" "" "0000246842" "0" "30" "9" "107607789" "107607789" "subst" "0" "02330" "ABCA1_000137" "g.107607789A>G" "" "" "" "ABCA1(NM_005502.4):c.782T>C (p.L261S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104845508A>G" "" "likely benign" "" "0000246845" "0" "30" "9" "107624057" "107624057" "subst" "0" "02330" "ABCA1_000143" "g.107624057A>C" "" "" "" "ABCA1(NM_005502.4):c.446T>G (p.V149G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104861776A>C" "" "likely benign" "" "0000246846" "0" "30" "9" "107562880" "107562880" "subst" "0" "02330" "ABCA1_000078" "g.107562880A>T" "" "" "" "ABCA1(NM_005502.4):c.4699-15T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104800599A>T" "" "likely benign" "" "0000246849" "0" "70" "9" "107588135" "107588135" "subst" "0" "02330" "ABCA1_000101" "g.107588135A>G" "" "" "" "ABCA1(NM_005502.4):c.2371T>C (p.C791R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104825854A>G" "" "likely pathogenic" "" "0000246851" "0" "50" "9" "107583713" "107583713" "subst" "3.24899E-5" "02330" "ABCA1_000085" "g.107583713A>G" "" "" "" "ABCA1(NM_005502.4):c.2903T>C (p.M968T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104821432A>G" "" "VUS" "" "0000246852" "0" "70" "9" "107593215" "107593215" "subst" "1.21829E-5" "02330" "ABCA1_000116" "g.107593215A>G" "" "" "" "ABCA1(NM_005502.4):c.1883T>C (p.V628A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104830934A>G" "" "likely pathogenic" "" "0000246853" "0" "70" "9" "107562282" "107562282" "subst" "0" "02330" "ABCA1_000077" "g.107562282A>T" "" "" "" "ABCA1(NM_005502.4):c.4774-13T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104800001A>T" "" "likely pathogenic" "" "0000246856" "0" "90" "9" "107568557" "107568557" "subst" "0" "02330" "ABCA1_000186" "g.107568557A>G" "" "" "" "ABCA1(NM_005502.4):c.4429T>C (p.C1477R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104806276A>G" "" "pathogenic" "" "0000246857" "0" "90" "9" "107550741" "107550741" "subst" "0" "02330" "ABCA1_000151" "g.107550741A>G" "" "" "" "ABCA1(NM_005502.4):c.6035T>C (p.L2012P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104788460A>G" "" "pathogenic" "" "0000246859" "0" "90" "9" "107589401" "107589401" "subst" "0" "02330" "ABCA1_000107" "g.107589401A>G" "" "" "" "ABCA1(NM_005502.4):c.2165T>C (p.L722P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104827120A>G" "" "pathogenic" "" "0000253412" "0" "10" "9" "107556811" "107556811" "del" "0" "01943" "ABCA1_000076" "g.107556811del" "" "" "" "ABCA1(NM_005502.3):c.5383-3delT, ABCA1(NM_005502.4):c.5383-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104794530del" "" "benign" "" "0000256760" "0" "10" "9" "107665978" "107665978" "subst" "0.144631" "02330" "ABCA1_000149" "g.107665978C>G" "" "" "" "ABCA1(NM_005502.4):c.-18G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104903697C>G" "" "benign" "" "0000256761" "0" "10" "9" "107665978" "107665995" "del" "0" "02330" "ABCA1_000150" "g.107665978_107665995del" "" "" "" "ABCA1(NM_005502.4):c.-35_-18delCCGAGCCACACGCTGGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104903697_104903714del" "" "benign" "" "0000256762" "0" "30" "9" "107546580" "107546580" "del" "0.000386119" "02330" "ABCA1_000060" "g.107546580del" "" "" "" "ABCA1(NM_005502.4):c.*16delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104784299del" "" "likely benign" "" "0000256763" "0" "30" "9" "107546577" "107546577" "subst" "0.000235719" "02330" "ABCA1_000059" "g.107546577C>A" "" "" "" "ABCA1(NM_005502.4):c.*19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104784296C>A" "" "likely benign" "" "0000256764" "0" "50" "9" "107602562" "107602562" "subst" "0" "02330" "ABCA1_000130" "g.107602562G>T" "" "" "" "ABCA1(NM_005502.4):c.1052C>A (p.T351K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104840281G>T" "" "VUS" "" "0000256765" "0" "70" "9" "107599795" "107599795" "subst" "0" "02330" "ABCA1_000128" "g.107599795T>A" "" "" "" "ABCA1(NM_005502.4):c.1108A>T (p.I370F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104837514T>A" "" "likely pathogenic" "" "0000256766" "0" "50" "9" "107599706" "107599706" "subst" "0" "02330" "ABCA1_000127" "g.107599706T>C" "" "" "" "ABCA1(NM_005502.4):c.1194+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104837425T>C" "" "VUS" "" "0000256767" "0" "10" "9" "107599390" "107599390" "subst" "0.090569" "02330" "ABCA1_000125" "g.107599390G>A" "" "" "" "ABCA1(NM_005502.4):c.1195-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104837109G>A" "" "benign" "" "0000256768" "0" "10" "9" "107599395" "107599395" "subst" "0" "02330" "ABCA1_000126" "g.107599395G>A" "" "" "" "ABCA1(NM_005502.4):c.1195-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104837114G>A" "" "benign" "" "0000256769" "0" "10" "9" "107594975" "107594975" "subst" "1.62429E-5" "02330" "ABCA1_000124" "g.107594975G>A" "" "" "" "ABCA1(NM_005502.4):c.1389C>T (p.I463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104832694G>A" "" "benign" "" "0000256770" "0" "10" "9" "107594974" "107594974" "subst" "0.000101523" "02330" "ABCA1_000123" "g.107594974C>T" "" "" "" "ABCA1(NM_005502.4):c.1390G>A (p.V464M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104832693C>T" "" "benign" "" "0000256771" "0" "10" "9" "107594897" "107594897" "subst" "3.65458E-5" "02330" "ABCA1_000122" "g.107594897G>A" "" "" "" "ABCA1(NM_005502.4):c.1467C>T (p.N489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104832616G>A" "" "benign" "" "0000256772" "0" "10" "9" "107594088" "107594088" "subst" "0.000898133" "02330" "ABCA1_000121" "g.107594088T>C" "" "" "" "ABCA1(NM_005502.4):c.1530A>G (p.L510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104831807T>C" "" "benign" "" "0000256773" "0" "10" "9" "107594007" "107594007" "subst" "0" "02330" "ABCA1_000120" "g.107594007C>T" "" "" "" "ABCA1(NM_005502.4):c.1611G>A (p.V537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104831726C>T" "" "benign" "" "0000256774" "0" "10" "9" "107593983" "107593983" "subst" "0.00202234" "02330" "ABCA1_000119" "g.107593983G>A" "" "" "" "ABCA1(NM_005502.4):c.1635C>T (p.S545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104831702G>A" "" "benign" "" "0000256775" "0" "30" "9" "107593900" "107593900" "subst" "0" "02330" "ABCA1_000118" "g.107593900T>C" "" "" "" "ABCA1(NM_005502.4):c.1715+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104831619T>C" "" "likely benign" "" "0000256776" "0" "70" "9" "107593329" "107593329" "subst" "6.09191E-5" "02330" "ABCA1_000032" "g.107593329C>A" "" "" "" "ABCA1(NM_005502.4):c.1769G>T (p.W590L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104831048C>A" "" "likely pathogenic" "" "0000256777" "0" "30" "9" "107593318" "107593318" "subst" "4.87381E-5" "02330" "ABCA1_000045" "g.107593318C>T" "" "" "" "ABCA1(NM_005502.4):c.1780G>A (p.A594T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104831037C>T" "" "likely benign" "" "0000256778" "0" "70" "9" "107646822" "107646822" "subst" "0" "02330" "ABCA1_000146" "g.107646822G>C" "" "" "" "ABCA1(NM_005502.4):c.188C>G (p.S63C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104884541G>C" "" "likely pathogenic" "" "0000256779" "0" "50" "9" "107591400" "107591400" "subst" "2.03321E-5" "02330" "ABCA1_000115" "g.107591400G>A" "" "" "" "ABCA1(NM_005502.4):c.1912C>T (p.R638W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104829119G>A" "" "VUS" "" "0000256780" "0" "30" "9" "107591399" "107591399" "subst" "0.00192747" "02330" "ABCA1_000114" "g.107591399C>T" "" "" "" "ABCA1(NM_005502.4):c.1913G>A (p.R638Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104829118C>T" "" "likely benign" "" "0000256781" "0" "10" "9" "107591335" "107591335" "subst" "0.00090576" "02330" "ABCA1_000113" "g.107591335G>A" "" "" "" "ABCA1(NM_005502.4):c.1977C>T (p.I659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104829054G>A" "" "benign" "" "0000256782" "0" "30" "9" "107591320" "107591320" "subst" "8.12288E-5" "02330" "ABCA1_000112" "g.107591320C>T" "" "" "" "ABCA1(NM_005502.4):c.1992G>A (p.E664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104829039C>T" "" "likely benign" "" "0000256783" "0" "50" "9" "107591292" "107591292" "subst" "0.0001056" "02330" "ABCA1_000111" "g.107591292T>G" "" "" "" "ABCA1(NM_005502.4):c.2020A>C (p.M674L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104829011T>G" "" "VUS" "" "0000256784" "0" "10" "9" "107591272" "107591272" "subst" "0.199104" "02330" "ABCA1_000110" "g.107591272G>T" "" "" "" "ABCA1(NM_005502.4):c.2040C>A (p.I680=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104828991G>T" "" "benign" "" "0000256785" "0" "30" "9" "107591223" "107591223" "subst" "0.000463151" "02330" "ABCA1_000109" "g.107591223C>T" "" "" "" "ABCA1(NM_005502.4):c.2089G>A (p.A697T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104828942C>T" "" "likely benign" "" "0000256786" "0" "30" "9" "107589466" "107589466" "subst" "0.000253658" "02330" "ABCA1_000108" "g.107589466C>T" "" "" "" "ABCA1(NM_005502.4):c.2116-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104827185C>T" "" "likely benign" "" "0000256787" "0" "50" "9" "107589396" "107589396" "subst" "2.43681E-5" "02330" "ABCA1_000106" "g.107589396C>T" "" "" "" "ABCA1(NM_005502.4):c.2170G>A (p.V724M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104827115C>T" "" "VUS" "" "0000256788" "0" "10" "9" "107589331" "107589331" "subst" "0.00023556" "02330" "ABCA1_000105" "g.107589331C>A" "" "" "" "ABCA1(NM_005502.4):c.2235G>T (p.L745=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104827050C>A" "" "benign" "" "0000256789" "0" "30" "9" "107589283" "107589283" "subst" "6.50169E-5" "02330" "ABCA1_000104" "g.107589283G>A" "" "" "" "ABCA1(NM_005502.4):c.2283C>T (p.Y761=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104827002G>A" "" "likely benign" "" "0000256790" "0" "10" "9" "107589255" "107589255" "subst" "0.0540105" "02330" "ABCA1_000103" "g.107589255C>T" "" "" "" "ABCA1(NM_005502.4):c.2311G>A (p.V771M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104826974C>T" "" "benign" "" "0000256791" "0" "10" "9" "107589246" "107589246" "subst" "0.00206159" "02330" "ABCA1_000009" "g.107589246T>G" "" "" "" "ABCA1(NM_005502.3):c.2320A>C (p.T774P), ABCA1(NM_005502.4):c.2320A>C (p.T774P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104826965T>G" "" "benign" "" "0000256792" "0" "10" "9" "107589238" "107589238" "subst" "0.00330329" "02330" "ABCA1_000008" "g.107589238C>G" "" "" "" "ABCA1(NM_005502.4):c.2328G>C (p.K776N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104826957C>G" "" "benign" "" "0000256793" "0" "10" "9" "107588062" "107588062" "subst" "0.000150255" "02330" "ABCA1_000006" "g.107588062T>C" "" "" "" "ABCA1(NM_005502.4):c.2444A>G (p.E815G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104825781T>C" "" "benign" "" "0000256794" "0" "90" "9" "107588035" "107588035" "subst" "2.84282E-5" "02330" "ABCA1_000099" "g.107588035G>A" "" "" "" "ABCA1(NM_005502.4):c.2471C>T (p.S824L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104825754G>A" "" "pathogenic" "" "0000256795" "0" "10" "9" "107588034" "107588034" "subst" "0.000897542" "02330" "ABCA1_000098" "g.107588034C>T" "" "" "" "ABCA1(NM_005502.4):c.2472G>A (p.S824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104825753C>T" "" "benign" "" "0000256796" "0" "10" "9" "107588033" "107588033" "subst" "0.0809805" "02330" "ABCA1_000097" "g.107588033C>T" "" "" "" "ABCA1(NM_005502.4):c.2473G>A (p.V825I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104825752C>T" "" "benign" "" "0000256797" "0" "30" "9" "107586871" "107586871" "subst" "4.06603E-6" "02330" "ABCA1_000096" "g.107586871G>A" "" "" "" "ABCA1(NM_005502.4):c.2543-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104824590G>A" "" "likely benign" "" "0000256798" "0" "70" "9" "107646756" "107646756" "subst" "0.00144985" "02330" "ABCA1_000041" "g.107646756G>A" "" "" "" "ABCA1(NM_005502.3):c.254C>T (p.P85L), ABCA1(NM_005502.4):c.254C>T (p.P85L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104884475G>A" "" "likely pathogenic" "" "0000256799" "0" "30" "9" "107646755" "107646755" "subst" "1.21834E-5" "02330" "ABCA1_000145" "g.107646755C>T" "" "" "" "ABCA1(NM_005502.4):c.255G>A (p.P85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104884474C>T" "" "likely benign" "" "0000256800" "0" "50" "9" "107586800" "107586800" "subst" "0.00114934" "02330" "ABCA1_000095" "g.107586800C>T" "" "" "" "ABCA1(NM_005502.4):c.2602G>A (p.E868K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104824519C>T" "" "VUS" "" "0000256801" "0" "10" "9" "107586753" "107586753" "subst" "0.208308" "02330" "ABCA1_000094" "g.107586753T>C" "" "" "" "ABCA1(NM_005502.4):c.2649A>G (p.I883M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104824472T>C" "" "benign" "" "0000256802" "0" "10" "9" "107584965" "107584965" "subst" "0" "02330" "ABCA1_000093" "g.107584965G>C" "" "" "" "ABCA1(NM_005502.4):c.2657-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104822684G>C" "" "benign" "" "0000256803" "0" "50" "9" "107584945" "107584945" "subst" "0.000471265" "02330" "ABCA1_000005" "g.107584945C>A" "" "" "" "ABCA1(NM_005502.4):c.2660G>T (p.C887F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104822664C>A" "" "VUS" "" "0000256804" "0" "90" "9" "107584866" "107584866" "del" "0" "02330" "ABCA1_000092" "g.107584866del" "" "" "" "ABCA1(NM_005502.4):c.2740delG (p.V914Wfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104822585del" "" "pathogenic" "" "0000256805" "0" "10" "9" "107584806" "107584806" "subst" "4.06111E-5" "02330" "ABCA1_000091" "g.107584806G>A" "" "" "" "ABCA1(NM_005502.4):c.2799C>T (p.G933=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104822525G>A" "" "benign" "" "0000256806" "0" "10" "9" "107584791" "107584791" "subst" "0.00131591" "02330" "ABCA1_000090" "g.107584791C>T" "" "" "" "ABCA1(NM_005502.4):c.2814G>A (p.G938=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104822510C>T" "" "benign" "" "0000256807" "0" "70" "9" "107584781" "107584781" "subst" "0" "02330" "ABCA1_000089" "g.107584781T>C" "" "" "" "ABCA1(NM_005502.4):c.2824A>G (p.T942A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104822500T>C" "" "likely pathogenic" "" "0000256808" "0" "50" "9" "107583755" "107583755" "subst" "4.06207E-6" "02330" "ABCA1_000088" "g.107583755G>A" "" "" "" "ABCA1(NM_005502.4):c.2861C>T (p.S954L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104821474G>A" "" "VUS" "" "0000256809" "0" "10" "9" "107583748" "107583748" "subst" "0.0025711" "02330" "ABCA1_000087" "g.107583748G>A" "" "" "" "ABCA1(NM_005502.4):c.2868C>T (p.T956=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104821467G>A" "" "benign" "" "0000256810" "0" "30" "9" "107583738" "107583738" "subst" "0" "02330" "ABCA1_000086" "g.107583738G>A" "" "" "" "ABCA1(NM_005502.4):c.2878C>T (p.L960=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104821457G>A" "" "likely benign" "" "0000256811" "0" "10" "9" "107583670" "107583670" "subst" "4.062E-6" "02330" "ABCA1_000084" "g.107583670G>A" "" "" "" "ABCA1(NM_005502.4):c.2946C>T (p.N982=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104821389G>A" "" "benign" "" "0000256812" "0" "10" "9" "107583638" "107583638" "subst" "0.00629465" "02330" "ABCA1_000083" "g.107583638C>T" "" "" "" "ABCA1(NM_005502.4):c.2960+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104821357C>T" "" "benign" "" "0000256813" "0" "10" "9" "107582360" "107582360" "subst" "0.00173957" "02330" "ABCA1_000082" "g.107582360G>A" "" "" "" "ABCA1(NM_005502.4):c.2961-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104820079G>A" "" "benign" "" "0000256814" "0" "90" "9" "107582316" "107582316" "subst" "8.12229E-6" "02330" "ABCA1_000211" "g.107582316G>C" "" "" "" "ABCA1(NM_005502.4):c.2995C>G (p.R999G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104820035G>C" "" "pathogenic" "" "0000256815" "0" "30" "9" "107582275" "107582275" "subst" "8.5282E-5" "02330" "ABCA1_000210" "g.107582275C>T" "" "" "" "ABCA1(NM_005502.4):c.3036G>A (p.M1012I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104819994C>T" "" "likely benign" "" "0000256816" "0" "50" "9" "107582258" "107582258" "subst" "0.000621345" "02330" "ABCA1_000003" "g.107582258T>C" "" "" "" "ABCA1(NM_005502.4):c.3053A>G (p.D1018G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104819977T>C" "" "VUS" "" "0000256817" "0" "10" "9" "107582212" "107582212" "subst" "0.00048426" "02330" "ABCA1_000209" "g.107582212C>G" "" "" "" "ABCA1(NM_005502.4):c.3099G>C (p.L1033=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104819931C>G" "" "benign" "" "0000256818" "0" "50" "9" "107582205" "107582205" "subst" "0" "02330" "ABCA1_000208" "g.107582205C>A" "" "" "" "ABCA1(NM_005502.4):c.3103+3G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104819924C>A" "" "VUS" "" "0000256820" "0" "50" "9" "107581915" "107581915" "subst" "0" "02330" "ABCA1_000206" "g.107581915G>T" "" "" "" "ABCA1(NM_005502.4):c.3193C>A (p.P1065T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104819634G>T" "" "VUS" "" "0000256821" "0" "10" "9" "107581904" "107581904" "subst" "0.00134416" "02330" "ABCA1_000205" "g.107581904G>A" "" "" "" "ABCA1(NM_005502.3):c.3204C>T (p.R1068=), ABCA1(NM_005502.4):c.3204C>T (p.R1068=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104819623G>A" "" "benign" "" "0000256822" "0" "10" "9" "107581042" "107581042" "subst" "0.0099814" "02330" "ABCA1_000204" "g.107581042G>A" "" "" "" "ABCA1(NM_005502.4):c.3364C>T (p.L1122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104818761G>A" "" "benign" "" "0000256823" "0" "30" "9" "107580974" "107580974" "subst" "3.24863E-5" "02330" "ABCA1_000203" "g.107580974G>A" "" "" "" "ABCA1(NM_005502.3):c.3432C>T (p.N1144=), ABCA1(NM_005502.4):c.3432C>T (p.N1144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104818693G>A" "" "likely benign" "" "0000256824" "0" "30" "9" "107579633" "107579633" "subst" "0.00125888" "02330" "ABCA1_000043" "g.107579633T>C" "" "" "" "ABCA1(NM_005502.4):c.3515A>G (p.E1172G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104817352T>C" "" "likely benign" "" "0000256825" "0" "10" "9" "107579632" "107579632" "subst" "0.0344409" "02330" "ABCA1_000202" "g.107579632C>G" "" "" "" "ABCA1(NM_005502.4):c.3516G>C (p.E1172D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104817351C>G" "" "benign" "" "0000256826" "0" "70" "9" "107578620" "107578620" "subst" "0.00136471" "02330" "ABCA1_000046" "g.107578620G>A" "" "" "" "ABCA1(NM_005502.3):c.3542C>T (p.S1181F), ABCA1(NM_005502.4):c.3542C>T (p.S1181F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104816339G>A" "" "likely pathogenic" "" "0000256827" "0" "30" "9" "107578618" "107578618" "subst" "0.000426458" "02330" "ABCA1_000048" "g.107578618C>T" "" "" "" "ABCA1(NM_005502.4):c.3544G>A (p.A1182T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104816337C>T" "" "likely benign" "" "0000256828" "0" "10" "9" "107578608" "107578608" "subst" "8.93416E-5" "02330" "ABCA1_000047" "g.107578608T>C" "" "" "" "ABCA1(NM_005502.4):c.3554A>G (p.N1185S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104816327T>C" "" "benign" "" "0000256829" "0" "50" "9" "107578578" "107578578" "subst" "6.90327E-5" "02330" "ABCA1_000201" "g.107578578C>T" "" "" "" "ABCA1(NM_005502.4):c.3584G>A (p.R1195Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104816297C>T" "" "VUS" "" "0000256830" "0" "10" "9" "107578529" "107578529" "subst" "0.0137613" "02330" "ABCA1_000200" "g.107578529T>C" "" "" "" "ABCA1(NM_005502.4):c.3633A>G (p.E1211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104816248T>C" "" "benign" "" "0000256832" "0" "10" "9" "107578478" "107578478" "subst" "0.0141716" "02330" "ABCA1_000198" "g.107578478C>T" "" "" "" "ABCA1(NM_005502.4):c.3684G>A (p.R1228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104816197C>T" "" "benign" "" "0000256833" "0" "10" "9" "107578436" "107578436" "subst" "0.000203037" "02330" "ABCA1_000197" "g.107578436C>T" "" "" "" "ABCA1(NM_005502.4):c.3726G>A (p.T1242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104816155C>T" "" "benign" "" "0000256834" "0" "50" "9" "107576738" "107576738" "subst" "6.09132E-5" "02330" "ABCA1_000055" "g.107576738C>T" "" "" "" "ABCA1(NM_005502.4):c.3757G>A (p.E1253K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104814457C>T" "" "VUS" "" "0000256835" "0" "50" "9" "107576449" "107576449" "subst" "2.03062E-5" "02330" "ABCA1_000196" "g.107576449G>A" "" "" "" "ABCA1(NM_005502.4):c.3851C>T (p.P1284L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104814168G>A" "" "VUS" "" "0000256836" "0" "30" "9" "107576403" "107576403" "subst" "8.53312E-5" "02330" "ABCA1_000195" "g.107576403G>A" "" "" "" "ABCA1(NM_005502.4):c.3897C>T (p.D1299=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104814122G>A" "" "likely benign" "" "0000256837" "0" "30" "9" "107574961" "107574961" "subst" "4.06055E-6" "02330" "ABCA1_000194" "g.107574961C>T" "" "" "" "ABCA1(NM_005502.4):c.3944G>A (p.G1315E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104812680C>T" "" "likely benign" "" "0000256838" "0" "10" "9" "107574960" "107574960" "subst" "0.00562386" "02330" "ABCA1_000193" "g.107574960C>T" "" "" "" "ABCA1(NM_005502.4):c.3945G>A (p.G1315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104812679C>T" "" "benign" "" "0000256839" "0" "10" "9" "107574928" "107574928" "subst" "0" "02330" "ABCA1_000192" "g.107574928T>C" "" "" "" "ABCA1(NM_005502.4):c.3977A>G (p.Q1326R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104812647T>C" "" "benign" "" "0000256840" "0" "10" "9" "107574848" "107574848" "subst" "3.65577E-5" "02330" "ABCA1_000191" "g.107574848G>A" "" "" "" "ABCA1(NM_005502.4):c.4050+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104812567G>A" "" "benign" "" "0000256841" "0" "30" "9" "107573101" "107573101" "subst" "8.1215E-5" "02330" "ABCA1_000190" "g.107573101G>A" "" "" "" "ABCA1(NM_005502.3):c.4155C>T (p.N1385=), ABCA1(NM_005502.4):c.4155C>T (p.N1385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104810820G>A" "" "likely benign" "" "0000256842" "0" "10" "9" "107624093" "107624093" "subst" "8.16193E-6" "02330" "ABCA1_000144" "g.107624093T>C" "" "" "" "ABCA1(NM_005502.4):c.422-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104861812T>C" "" "benign" "" "0000256843" "0" "50" "9" "107571772" "107571772" "subst" "2.84366E-5" "02330" "ABCA1_000189" "g.107571772G>A" "" "" "" "ABCA1(NM_005502.4):c.4249C>T (p.R1417C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104809491G>A" "" "VUS" "" "0000256844" "0" "90" "9" "107571771" "107571771" "subst" "0.00017061" "02330" "ABCA1_000188" "g.107571771C>T" "" "" "" "ABCA1(NM_005502.4):c.4250G>A (p.R1417H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104809490C>T" "" "pathogenic" "" "0000256845" "0" "10" "9" "107568705" "107568705" "subst" "0.113733" "02330" "ABCA1_000187" "g.107568705C>T" "" "" "" "ABCA1(NM_005502.4):c.4281G>A (p.T1427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104806424C>T" "" "benign" "" "0000256846" "0" "10" "9" "107568546" "107568546" "subst" "0.00568791" "02330" "ABCA1_000185" "g.107568546C>A" "" "" "" "ABCA1(NM_005502.4):c.4440G>T (p.G1480=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104806265C>A" "" "benign" "" "0000256847" "0" "70" "9" "107568519" "107568519" "subst" "0" "02330" "ABCA1_000184" "g.107568519C>T" "" "" "" "ABCA1(NM_005502.4):c.4464+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104806238C>T" "" "likely pathogenic" "" "0000256848" "0" "10" "9" "107566930" "107566930" "subst" "0.0141092" "02330" "ABCA1_000183" "g.107566930C>A" "" "" "" "ABCA1(NM_005502.4):c.4536G>T (p.T1512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104804649C>A" "" "benign" "" "0000256849" "0" "10" "9" "107665916" "107665916" "subst" "2.40704E-5" "02330" "ABCA1_000148" "g.107665916G>A" "" "" "" "ABCA1(NM_005502.4):c.45C>T (p.L15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104903635G>A" "" "benign" "" "0000256850" "0" "50" "9" "107624036" "107624036" "subst" "2.03032E-5" "02330" "ABCA1_000038" "g.107624036C>A" "" "" "" "ABCA1(NM_005502.4):c.467G>T (p.G156V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104861755C>A" "" "VUS" "" "0000256851" "0" "10" "9" "107564325" "107564325" "subst" "0" "02330" "ABCA1_000181" "g.107564325G>C" "" "" "" "ABCA1(NM_005502.4):c.4698+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104802044G>C" "" "benign" "" "0000256852" "0" "70" "9" "107564335" "107564335" "subst" "1.21882E-5" "02330" "ABCA1_000182" "g.107564335C>G" "" "" "" "ABCA1(NM_005502.4):c.4698G>C (p.K1566N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104802054C>G" "" "likely pathogenic" "" "0000256853" "0" "30" "9" "107562883" "107562883" "subst" "0.000105693" "02330" "ABCA1_000180" "g.107562883C>G" "" "" "" "ABCA1(NM_005502.4):c.4699-18G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104800602C>G" "" "likely benign" "" "0000256854" "0" "10" "9" "107624029" "107624029" "subst" "0.298615" "02330" "ABCA1_000142" "g.107624029C>T" "" "" "" "ABCA1(NM_005502.4):c.474G>A (p.L158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104861748C>T" "" "benign" "" "0000256855" "0" "10" "9" "107562804" "107562804" "subst" "0.7093" "02330" "ABCA1_000002" "g.107562804T>C" "" "" "" "ABCA1(NM_005502.4):c.4760A>G (p.K1587R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104800523T>C" "" "benign" "" "0000256856" "0" "30" "9" "107562283" "107562283" "subst" "0.000105764" "02330" "ABCA1_000178" "g.107562283T>C" "" "" "" "ABCA1(NM_005502.4):c.4774-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104800002T>C" "" "likely benign" "" "0000256857" "0" "30" "9" "107562286" "107562286" "subst" "0.00330013" "02330" "ABCA1_000179" "g.107562286C>T" "" "" "" "ABCA1(NM_005502.3):c.4774-17G>A, ABCA1(NM_005502.4):c.4774-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104800005C>T" "" "likely benign" "" "0000256858" "0" "10" "9" "107562090" "107562090" "subst" "2.84329E-5" "02330" "ABCA1_000177" "g.107562090C>A" "" "" "" "ABCA1(NM_005502.4):c.4943+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104799809C>A" "" "benign" "" "0000256859" "0" "30" "9" "107560894" "107560894" "subst" "5.35508E-5" "02330" "ABCA1_000175" "g.107560894C>T" "" "" "" "ABCA1(NM_005502.4):c.4944-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104798613C>T" "" "likely benign" "" "0000256860" "0" "10" "9" "107560894" "107560894" "subst" "2.88351E-5" "02330" "ABCA1_000176" "g.107560894C>G" "" "" "" "ABCA1(NM_005502.4):c.4944-15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104798613C>G" "" "benign" "" "0000256861" "0" "10" "9" "107560860" "107560860" "subst" "0" "02330" "ABCA1_000174" "g.107560860C>G" "" "" "" "ABCA1(NM_005502.4):c.4963G>C (p.V1655L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104798579C>G" "" "benign" "" "0000256862" "0" "50" "9" "107560803" "107560803" "subst" "0.00057297" "02330" "ABCA1_000024" "g.107560803C>T" "" "" "" "ABCA1(NM_005502.4):c.5020G>A (p.V1674I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104798522C>T" "" "VUS" "" "0000256863" "0" "30" "9" "107558675" "107558675" "subst" "0" "02330" "ABCA1_000173" "g.107558675T>C" "" "" "" "ABCA1(NM_005502.4):c.5152A>G (p.I1718V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104796394T>C" "" "likely benign" "" "0000256864" "0" "10" "9" "107558579" "107558580" "del" "0" "02330" "ABCA1_000172" "g.107558579_107558580del" "" "" "" "ABCA1(NM_005502.4):c.5237+12_5237+13delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104796298_104796299del" "" "benign" "" "0000256865" "0" "30" "9" "107558471" "107558471" "subst" "8.53575E-5" "02330" "ABCA1_000171" "g.107558471T>C" "" "" "" "ABCA1(NM_005502.4):c.5245A>G (p.I1749V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104796190T>C" "" "likely benign" "" "0000256866" "0" "10" "9" "107558340" "107558340" "subst" "0.00195716" "02330" "ABCA1_000169" "g.107558340G>A" "" "" "" "ABCA1(NM_005502.4):c.5376C>T (p.T1792=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104796059G>A" "" "benign" "" "0000256872" "0" "10" "9" "107556810" "107556811" "del" "0" "02330" "ABCA1_000166" "g.107556810_107556811del" "" "" "" "ABCA1(NM_005502.3):c.5383-4_5383-3delTT, ABCA1(NM_005502.4):c.5383-4_5383-3delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104794529_104794530del" "" "benign" "" "0000256873" "0" "10" "9" "107556809" "107556811" "dup" "0" "02330" "ABCA1_000168" "g.107556809_107556811dup" "" "" "" "ABCA1(NM_005502.3):c.5383-5_5383-3dupTTT, ABCA1(NM_005502.4):c.5383-5_5383-3dupTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104794528_104794530dup" "" "benign" "" "0000256875" "0" "90" "9" "107556776" "107556776" "subst" "0.000291849" "02330" "ABCA1_000020" "g.107556776T>G" "" "" "" "ABCA1(NM_005502.4):c.5398A>C (p.N1800H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104794495T>G" "" "pathogenic" "" "0000256876" "0" "10" "9" "107556768" "107556768" "subst" "0.000198523" "02330" "ABCA1_000160" "g.107556768G>A" "" "" "" "ABCA1(NM_005502.4):c.5406C>T (p.I1802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104794487G>A" "" "benign" "" "0000256877" "0" "70" "9" "107555536" "107555536" "subst" "8.13299E-6" "02330" "ABCA1_000017" "g.107555536C>T" "" "" "" "ABCA1(NM_005502.4):c.5552G>A (p.R1851Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104793255C>T" "" "likely pathogenic" "" "0000256878" "0" "10" "9" "107555195" "107555195" "del" "0" "02330" "ABCA1_000158" "g.107555195del" "" "" "" "ABCA1(NM_005502.4):c.5637-4delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104792914del" "" "benign" "" "0000256879" "0" "10" "9" "107555175" "107555175" "subst" "5.28275E-5" "02330" "ABCA1_000157" "g.107555175T>C" "" "" "" "ABCA1(NM_005502.4):c.5649A>G (p.A1883=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104792894T>C" "" "benign" "" "0000256880" "0" "30" "9" "107555063" "107555064" "del" "0" "02330" "ABCA1_000156" "g.107555063_107555064del" "" "" "" "ABCA1(NM_005502.4):c.5757+8_5757+9delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104792782_104792783del" "" "likely benign" "" "0000256881" "0" "30" "9" "107554263" "107554263" "subst" "0.00235452" "02330" "ABCA1_000014" "g.107554263C>T" "" "" "" "ABCA1(NM_005502.4):c.5774G>A (p.R1925Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104791982C>T" "" "likely benign" "" "0000256882" "0" "90" "9" "107554252" "107554252" "subst" "0" "02330" "ABCA1_000154" "g.107554252C>A" "" "" "" "ABCA1(NM_005502.4):c.5785G>T (p.V1929F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104791971C>A" "" "pathogenic" "" "0000256883" "0" "10" "9" "107550688" "107550688" "subst" "0.000158673" "02330" "ABCA1_000075" "g.107550688T>C" "" "" "" "ABCA1(NM_005502.4):c.6069+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104788407T>C" "" "benign" "" "0000256884" "0" "50" "9" "107550322" "107550322" "subst" "0.000174821" "02330" "ABCA1_000074" "g.107550322G>A" "" "" "" "ABCA1(NM_005502.4):c.6083C>T (p.A2028V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104788041G>A" "" "VUS" "" "0000256885" "0" "50" "9" "107550316" "107550316" "subst" "3.2519E-5" "02330" "ABCA1_000073" "g.107550316C>T" "" "" "" "ABCA1(NM_005502.4):c.6089G>A (p.R2030Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104788035C>T" "" "VUS" "" "0000256886" "0" "30" "9" "107550302" "107550302" "subst" "8.12783E-6" "02330" "ABCA1_000072" "g.107550302C>T" "" "" "" "ABCA1(NM_005502.4):c.6103G>A (p.V2035M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104788021C>T" "" "likely benign" "" "0000256887" "0" "90" "9" "107550254" "107550254" "subst" "1.21845E-5" "02330" "ABCA1_000071" "g.107550254G>A" "" "" "" "ABCA1(NM_005502.4):c.6151C>T (p.R2051C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104787973G>A" "" "pathogenic" "" "0000256888" "0" "10" "9" "107550222" "107550222" "subst" "0.0321898" "02330" "ABCA1_000070" "g.107550222G>A" "" "" "" "ABCA1(NM_005502.4):c.6183C>T (p.G2061=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104787941G>A" "" "benign" "" "0000256889" "0" "70" "9" "107550203" "107550203" "subst" "0" "02330" "ABCA1_000069" "g.107550203G>T" "" "" "" "ABCA1(NM_005502.4):c.6202C>A (p.L2068M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104787922G>T" "" "likely pathogenic" "" "0000256890" "0" "10" "9" "107548675" "107548675" "subst" "0.000366187" "02330" "ABCA1_000067" "g.107548675C>T" "" "" "" "ABCA1(NM_005502.4):c.6309-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104786394C>T" "" "benign" "" "0000256891" "0" "50" "9" "107548634" "107548634" "subst" "8.12909E-6" "02330" "ABCA1_000066" "g.107548634T>C" "" "" "" "ABCA1(NM_005502.4):c.6346A>G (p.I2116V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104786353T>C" "" "VUS" "" "0000256892" "0" "10" "9" "107548566" "107548566" "subst" "0.0865498" "02330" "ABCA1_000065" "g.107548566T>C" "" "" "" "ABCA1(NM_005502.4):c.6401+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104786285T>C" "" "benign" "" "0000256893" "0" "10" "9" "107547872" "107547872" "subst" "0.00298692" "02330" "ABCA1_000063" "g.107547872C>T" "" "" "" "ABCA1(NM_005502.4):c.6450G>A (p.P2150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104785591C>T" "" "benign" "" "0000256894" "0" "10" "9" "107547872" "107547872" "subst" "0" "02330" "ABCA1_000064" "g.107547872C>A" "" "" "" "ABCA1(NM_005502.4):c.6450G>T (p.P2150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104785591C>A" "" "benign" "" "0000256895" "0" "10" "9" "107620872" "107620872" "subst" "0.000921775" "02330" "ABCA1_000141" "g.107620872T>C" "" "" "" "ABCA1(NM_005502.4):c.651A>G (p.L217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104858591T>C" "" "benign" "" "0000256896" "0" "70" "9" "107547734" "107547734" "subst" "0.000142413" "02330" "ABCA1_000056" "g.107547734C>G" "" "" "" "ABCA1(NM_005502.4):c.6588G>C (p.Q2196H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104785453C>G" "" "likely pathogenic" "" "0000256897" "0" "70" "9" "107546634" "107546638" "del" "0" "02330" "ABCA1_000061" "g.107546634_107546638del" "" "" "" "ABCA1(NM_005502.4):c.6744_6748delATCTT (p.F2250Tfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104784353_104784357del" "" "likely pathogenic" "" "0000256898" "0" "50" "9" "107620834" "107620834" "subst" "2.03036E-5" "02330" "ABCA1_000140" "g.107620834C>T" "" "" "" "ABCA1(NM_005502.4):c.689G>A (p.R230H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104858553C>T" "" "VUS" "" "0000256899" "0" "30" "9" "107607822" "107607822" "subst" "9.7511E-5" "02330" "ABCA1_000035" "g.107607822G>A" "" "" "" "ABCA1(NM_005502.4):c.749C>T (p.P250L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104845541G>A" "" "likely benign" "" "0000256900" "0" "10" "9" "107607741" "107607741" "subst" "0.0041509" "02330" "ABCA1_000136" "g.107607741G>A" "" "" "" "ABCA1(NM_005502.4):c.813+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104845460G>A" "" "benign" "" "0000256902" "0" "30" "9" "107602806" "107602806" "subst" "3.76714E-5" "02330" "ABCA1_000134" "g.107602806G>A" "" "" "" "ABCA1(NM_005502.4):c.814-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104840525G>A" "" "likely benign" "" "0000256903" "0" "10" "9" "107602678" "107602678" "subst" "0.0848604" "02330" "ABCA1_000132" "g.107602678G>A" "" "" "" "ABCA1(NM_005502.4):c.936C>T (p.P312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104840397G>A" "" "benign" "" "0000256904" "0" "10" "9" "107602666" "107602666" "subst" "0.122318" "02330" "ABCA1_000131" "g.107602666C>T" "" "" "" "ABCA1(NM_005502.4):c.948G>A (p.G316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104840385C>T" "" "benign" "" "0000256905" "0" "30" "9" "107651444" "107651444" "subst" "0.000910288" "02330" "ABCA1_000147" "g.107651444T>C" "" "" "" "ABCA1(NM_005502.4):c.99A>G (p.L33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104889163T>C" "" "likely benign" "" "0000258697" "0" "10" "9" "107586753" "107586753" "subst" "0.208308" "02325" "ABCA1_000094" "g.107586753T>C" "" "" "" "ABCA1(NM_005502.4):c.2649A>G (p.I883M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104824472T>C" "" "benign" "" "0000258698" "0" "10" "9" "107562804" "107562804" "subst" "0.7093" "02325" "ABCA1_000002" "g.107562804T>C" "" "" "" "ABCA1(NM_005502.4):c.4760A>G (p.K1587R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104800523T>C" "" "benign" "" "0000259840" "0" "70" "9" "107555583" "107555583" "subst" "0" "02329" "ABCA1_000159" "g.107555583T>A" "" "" "" "ABCA1(NM_005502.4):c.5507-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104793302T>A" "" "likely pathogenic" "" "0000261569" "0" "30" "9" "107554244" "107554244" "subst" "0" "01943" "ABCA1_000153" "g.107554244C>A" "" "" "" "ABCA1(NM_005502.3):c.5793G>T (p.R1931S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104791963C>A" "" "likely benign" "" "0000261570" "0" "30" "9" "107549191" "107549191" "subst" "4.06412E-6" "01943" "ABCA1_000068" "g.107549191C>T" "" "" "" "ABCA1(NM_005502.3):c.6271G>A (p.V2091I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104786910C>T" "" "likely benign" "" "0000261571" "0" "50" "9" "107547738" "107547738" "subst" "0" "01943" "ABCA1_000062" "g.107547738G>T" "" "" "" "ABCA1(NM_005502.3):c.6584C>A (p.S2195Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104785457G>T" "" "VUS" "" "0000535673" "0" "10" "9" "107546290" "107546290" "del" "0" "02330" "ABCA1_000212" "g.107546290del" "" "" "" "ABCA1(NM_005502.4):c.*321delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104784009del" "" "benign" "" "0000535674" "0" "30" "9" "107546638" "107546638" "subst" "9.3483E-5" "02330" "ABCA1_000213" "g.107546638T>C" "" "" "" "ABCA1(NM_005502.4):c.6744A>G (p.T2248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104784357T>C" "" "likely benign" "" "0000535675" "0" "50" "9" "107546652" "107546652" "subst" "0.000203224" "02330" "ABCA1_000058" "g.107546652C>T" "" "" "" "ABCA1(NM_005502.4):c.6730G>A (p.V2244I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104784371C>T" "" "VUS" "" "0000535676" "0" "30" "9" "107546653" "107546653" "subst" "0.00143491" "02330" "ABCA1_000214" "g.107546653G>T" "" "" "" "ABCA1(NM_005502.4):c.6729C>A (p.D2243E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104784372G>T" "" "likely benign" "" "0000535677" "0" "70" "9" "107546684" "107546685" "del" "0" "02330" "ABCA1_000215" "g.107546684_107546685del" "" "" "" "ABCA1(NM_005502.4):c.6700_6701delTC (p.S2234Ifs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104784403_104784404del" "" "likely pathogenic" "" "0000535678" "0" "30" "9" "107546756" "107546756" "dup" "0" "02330" "ABCA1_000216" "g.107546756dup" "" "" "" "ABCA1(NM_005502.4):c.6646-19dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104784475dup" "" "likely benign" "" "0000535679" "0" "10" "9" "107546901" "107546901" "subst" "0" "02330" "ABCA1_000217" "g.107546901A>G" "" "" "" "ABCA1(NM_005502.4):c.6646-165T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104784620A>G" "" "benign" "" "0000535680" "0" "10" "9" "107547024" "107547024" "subst" "0" "02330" "ABCA1_000218" "g.107547024G>A" "" "" "" "ABCA1(NM_005502.4):c.6646-288C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104784743G>A" "" "benign" "" "0000535681" "0" "10" "9" "107547215" "107547215" "subst" "0" "02330" "ABCA1_000219" "g.107547215A>G" "" "" "" "ABCA1(NM_005502.4):c.6645+462T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104784934A>G" "" "benign" "" "0000535682" "0" "10" "9" "107547217" "107547217" "subst" "0" "02330" "ABCA1_000220" "g.107547217G>A" "" "" "" "ABCA1(NM_005502.4):c.6645+460C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104784936G>A" "" "benign" "" "0000535683" "0" "10" "9" "107547230" "107547230" "subst" "0" "02330" "ABCA1_000221" "g.107547230C>T" "" "" "" "ABCA1(NM_005502.4):c.6645+447G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104784949C>T" "" "benign" "" "0000535684" "0" "10" "9" "107547622" "107547622" "subst" "0" "02330" "ABCA1_000222" "g.107547622C>G" "" "" "" "ABCA1(NM_005502.4):c.6645+55G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104785341C>G" "" "benign" "" "0000535685" "0" "30" "9" "107547731" "107547731" "subst" "0" "01943" "ABCA1_000223" "g.107547731G>T" "" "" "" "ABCA1(NM_005502.3):c.6591C>A (p.S2197R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104785450G>T" "" "likely benign" "" "0000535686" "0" "50" "9" "107547757" "107547757" "subst" "8.13815E-6" "02330" "ABCA1_000224" "g.107547757T>C" "" "" "" "ABCA1(NM_005502.4):c.6565A>G (p.R2189G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104785476T>C" "" "VUS" "" "0000535687" "0" "50" "9" "107547804" "107547804" "subst" "4.06779E-6" "02330" "ABCA1_000057" "g.107547804C>T" "" "" "" "ABCA1(NM_005502.4):c.6518G>A (p.R2173Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104785523C>T" "" "VUS" "" "0000535688" "0" "70" "9" "107547920" "107547920" "subst" "0" "02330" "ABCA1_000225" "g.107547920C>T" "" "" "" "ABCA1(NM_005502.4):c.6402G>A (p.R2134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104785639C>T" "" "likely pathogenic" "" "0000535689" "0" "30" "9" "107548032" "107548032" "subst" "0" "02330" "ABCA1_000226" "g.107548032C>T" "" "" "" "ABCA1(NM_005502.4):c.6402-112G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104785751C>T" "" "likely benign" "" "0000535690" "0" "10" "9" "107548250" "107548250" "subst" "0" "02330" "ABCA1_000227" "g.107548250T>A" "" "" "" "ABCA1(NM_005502.4):c.6401+329A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104785969T>A" "" "benign" "" "0000535691" "0" "10" "9" "107548375" "107548375" "subst" "0" "02330" "ABCA1_000228" "g.107548375C>A" "" "" "" "ABCA1(NM_005502.4):c.6401+204G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104786094C>A" "" "benign" "" "0000535692" "0" "10" "9" "107548462" "107548462" "subst" "0" "02330" "ABCA1_000229" "g.107548462T>C" "" "" "" "ABCA1(NM_005502.4):c.6401+117A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104786181T>C" "" "benign" "" "0000535693" "0" "10" "9" "107548493" "107548493" "subst" "0" "02330" "ABCA1_000230" "g.107548493G>T" "" "" "" "ABCA1(NM_005502.4):c.6401+86C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104786212G>T" "" "benign" "" "0000535694" "0" "30" "9" "107548602" "107548602" "subst" "0" "02330" "ABCA1_000231" "g.107548602G>A" "" "" "" "ABCA1(NM_005502.4):c.6378C>T (p.G2126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104786321G>A" "" "likely benign" "" "0000535695" "0" "30" "9" "107548676" "107548676" "subst" "8.13756E-6" "02330" "ABCA1_000232" "g.107548676G>A" "" "" "" "ABCA1(NM_005502.4):c.6309-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104786395G>A" "" "likely benign" "" "0000535696" "0" "30" "9" "107548677" "107548677" "subst" "3.6619E-5" "02330" "ABCA1_000233" "g.107548677G>A" "" "" "" "ABCA1(NM_005502.4):c.6309-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104786396G>A" "" "likely benign" "" "0000535697" "0" "10" "9" "107548818" "107548818" "subst" "0" "02330" "ABCA1_000234" "g.107548818A>G" "" "" "" "ABCA1(NM_005502.4):c.6309-147T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104786537A>G" "" "benign" "" "0000535698" "0" "30" "9" "107549150" "107549150" "subst" "8.12995E-6" "02330" "ABCA1_000235" "g.107549150G>A" "" "" "" "ABCA1(NM_005502.4):c.6308+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104786869G>A" "" "likely benign" "" "0000535699" "0" "30" "9" "107549291" "107549291" "subst" "0.0218161" "02330" "ABCA1_000236" "g.107549291G>A" "" "" "" "ABCA1(NM_005502.4):c.6205-34C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104787010G>A" "" "likely benign" "" "0000535700" "0" "10" "9" "107549593" "107549593" "subst" "0" "02330" "ABCA1_000237" "g.107549593C>G" "" "" "" "ABCA1(NM_005502.4):c.6205-336G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104787312C>G" "" "benign" "" "0000535701" "0" "10" "9" "107549827" "107549827" "subst" "0" "02330" "ABCA1_000238" "g.107549827G>A" "" "" "" "ABCA1(NM_005502.4):c.6204+374C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104787546G>A" "" "benign" "" "0000535702" "0" "30" "9" "107550184" "107550184" "subst" "1.2197E-5" "02330" "ABCA1_000239" "g.107550184T>C" "" "" "" "ABCA1(NM_005502.4):c.6204+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104787903T>C" "" "likely benign" "" "0000535703" "0" "50" "9" "107550221" "107550221" "subst" "1.62473E-5" "02330" "ABCA1_000012" "g.107550221C>T" "" "" "" "ABCA1(NM_005502.4):c.6184G>A (p.G2062R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104787940C>T" "" "VUS" "" "0000535704" "0" "50" "9" "107550328" "107550328" "subst" "8.12975E-6" "02330" "ABCA1_000240" "g.107550328T>C" "" "" "" "ABCA1(NM_005502.4):c.6077A>G (p.E2026G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104788047T>C" "" "VUS" "" "0000535705" "0" "10" "9" "107550639" "107550639" "subst" "0" "02330" "ABCA1_000241" "g.107550639A>G" "" "" "" "ABCA1(NM_005502.4):c.6069+68T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104788358A>G" "" "benign" "" "0000535706" "0" "10" "9" "107550667" "107550667" "subst" "2.44276E-5" "02330" "ABCA1_000242" "g.107550667T>A" "" "" "" "ABCA1(NM_005502.4):c.6069+40A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104788386T>A" "" "benign" "" "0000535707" "0" "30" "9" "107550758" "107550758" "subst" "0.000203403" "02330" "ABCA1_000243" "g.107550758G>A" "" "" "" "ABCA1(NM_005502.4):c.6018C>T (p.H2006=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104788477G>A" "" "likely benign" "" "0000535708" "0" "50" "9" "107550823" "107550823" "subst" "4.07073E-5" "02330" "ABCA1_000013" "g.107550823G>A" "" "" "" "ABCA1(NM_005502.4):c.5953C>T (p.H1985Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104788542G>A" "" "VUS" "" "0000535709" "0" "10" "9" "107551180" "107551180" "subst" "0" "02330" "ABCA1_000244" "g.107551180C>T" "" "" "" "ABCA1(NM_005502.4):c.5928-332G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104788899C>T" "" "benign" "" "0000535710" "0" "10" "9" "107551247" "107551247" "subst" "0" "02330" "ABCA1_000245" "g.107551247A>C" "" "" "" "ABCA1(NM_005502.4):c.5928-399T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104788966A>C" "" "benign" "" "0000535711" "0" "10" "9" "107552924" "107552924" "subst" "0" "02330" "ABCA1_000246" "g.107552924A>G" "" "" "" "ABCA1(NM_005502.4):c.5927+279T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104790643A>G" "" "benign" "" "0000535712" "0" "10" "9" "107552939" "107552939" "subst" "0" "02330" "ABCA1_000247" "g.107552939A>G" "" "" "" "ABCA1(NM_005502.4):c.5927+264T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104790658A>G" "" "benign" "" "0000535713" "0" "70" "9" "107553275" "107553275" "subst" "0" "02330" "ABCA1_000248" "g.107553275T>C" "" "" "" "ABCA1(NM_005502.4):c.5855A>G (p.K1952R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104790994T>C" "" "likely pathogenic" "" "0000535714" "0" "10" "9" "107553478" "107553478" "subst" "0" "02330" "ABCA1_000249" "g.107553478A>T" "" "" "" "ABCA1(NM_005502.4):c.5821-169T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104791197A>T" "" "benign" "" "0000535715" "0" "10" "9" "107553524" "107553524" "subst" "0" "02330" "ABCA1_000250" "g.107553524A>G" "" "" "" "ABCA1(NM_005502.4):c.5821-215T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104791243A>G" "" "benign" "" "0000535716" "0" "10" "9" "107553786" "107553787" "ins" "0" "02330" "ABCA1_000251" "g.107553786_107553787insTCACTGC" "" "" "" "ABCA1(NM_005502.4):c.5820+432_5820+433insAGTGAGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104791505_104791506insTCACTGC" "" "benign" "" "0000535717" "0" "10" "9" "107554069" "107554069" "subst" "0" "02330" "ABCA1_000252" "g.107554069C>T" "" "" "" "ABCA1(NM_005502.4):c.5820+148G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104791788C>T" "" "benign" "" "0000535718" "0" "70" "9" "107554224" "107554224" "subst" "8.16426E-6" "02330" "ABCA1_000253" "g.107554224G>A" "" "" "" "ABCA1(NM_005502.4):c.5813C>T (p.P1938L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104791943G>A" "" "likely pathogenic" "" "0000535719" "0" "30" "9" "107554296" "107554296" "subst" "0" "02330" "ABCA1_000254" "g.107554296G>A" "" "" "" "ABCA1(NM_005502.4):c.5758-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104792015G>A" "" "likely benign" "" "0000535720" "0" "10" "9" "107554521" "107554521" "subst" "0" "02330" "ABCA1_000255" "g.107554521T>C" "" "" "" "ABCA1(NM_005502.4):c.5758-242A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104792240T>C" "" "benign" "" "0000535721" "0" "10" "9" "107554534" "107554534" "subst" "0" "02330" "ABCA1_000256" "g.107554534T>C" "" "" "" "ABCA1(NM_005502.4):c.5758-255A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104792253T>C" "" "benign" "" "0000535722" "0" "10" "9" "107554744" "107554744" "subst" "0" "02330" "ABCA1_000257" "g.107554744A>G" "" "" "" "ABCA1(NM_005502.4):c.5757+323T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104792463A>G" "" "benign" "" "0000535723" "0" "10" "9" "107554745" "107554745" "subst" "0" "02330" "ABCA1_000258" "g.107554745A>T" "" "" "" "ABCA1(NM_005502.4):c.5757+322T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104792464A>T" "" "benign" "" "0000535724" "0" "50" "9" "107555071" "107555071" "subst" "4.47409E-5" "02330" "ABCA1_000259" "g.107555071G>A" "" "" "" "ABCA1(NM_005502.4):c.5753C>T (p.T1918M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104792790G>A" "" "VUS" "" "0000535725" "0" "30" "9" "107555088" "107555088" "subst" "0" "02330" "ABCA1_000260" "g.107555088T>C" "" "" "" "ABCA1(NM_005502.4):c.5736A>G (p.L1912=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104792807T>C" "" "likely benign" "" "0000535726" "0" "30" "9" "107555090" "107555090" "subst" "0" "02330" "ABCA1_000261" "g.107555090A>G" "" "" "" "ABCA1(NM_005502.4):c.5734T>C (p.L1912=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104792809A>G" "" "likely benign" "" "0000535727" "0" "30" "9" "107555434" "107555434" "subst" "0.000146447" "02330" "ABCA1_000262" "g.107555434T>G" "" "" "" "ABCA1(NM_005502.4):c.5636+18A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104793153T>G" "" "likely benign" "" "0000535728" "0" "30" "9" "107555525" "107555525" "subst" "4.06607E-6" "02330" "ABCA1_000263" "g.107555525C>T" "" "" "" "ABCA1(NM_005502.4):c.5563G>A (p.A1855T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104793244C>T" "" "likely benign" "" "0000535729" "0" "10" "9" "107555711" "107555711" "subst" "0" "02330" "ABCA1_000264" "g.107555711C>G" "" "" "" "ABCA1(NM_005502.4):c.5507-130G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104793430C>G" "" "benign" "" "0000535730" "0" "10" "9" "107556416" "107556416" "subst" "0" "02330" "ABCA1_000265" "g.107556416G>A" "" "" "" "ABCA1(NM_005502.4):c.5506+252C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104794135G>A" "" "benign" "" "0000535731" "0" "10" "9" "107556417" "107556417" "subst" "0" "02330" "ABCA1_000266" "g.107556417C>A" "" "" "" "ABCA1(NM_005502.4):c.5506+251G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104794136C>A" "" "benign" "" "0000535732" "0" "50" "9" "107556682" "107556682" "subst" "0.00017876" "02330" "ABCA1_000267" "g.107556682G>A" "" "" "" "ABCA1(NM_005502.4):c.5492C>T (p.A1831V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104794401G>A" "" "VUS" "" "0000535733" "0" "30" "9" "107556765" "107556765" "subst" "0" "02330" "ABCA1_000268" "g.107556765C>T" "" "" "" "ABCA1(NM_005502.4):c.5409G>A (p.L1803=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104794484C>T" "" "likely benign" "" "0000535734" "0" "30" "9" "107556807" "107556811" "del" "0" "02330" "ABCA1_000269" "g.107556807_107556811del" "" "" "" "ABCA1(NM_005502.4):c.5383-7_5383-3delTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104794526_104794530del" "" "likely benign" "" "0000535735" "0" "10" "9" "107556807" "107556811" "dup" "0" "02330" "ABCA1_000270" "g.107556807_107556811dup" "" "" "" "ABCA1(NM_005502.4):c.5383-7_5383-3dupTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104794526_104794530dup" "" "benign" "" "0000535736" "0" "10" "9" "107556808" "107556811" "dup" "0" "02330" "ABCA1_000271" "g.107556808_107556811dup" "" "" "" "ABCA1(NM_005502.3):c.5383-6_5383-3dupTTTT, ABCA1(NM_005502.4):c.5383-6_5383-3dupTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104794527_104794530dup" "" "benign" "" "0000535737" "0" "10" "9" "107556808" "107556811" "dup" "0" "01943" "ABCA1_000271" "g.107556808_107556811dup" "" "" "" "ABCA1(NM_005502.3):c.5383-6_5383-3dupTTTT, ABCA1(NM_005502.4):c.5383-6_5383-3dupTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104794527_104794530dup" "" "benign" "" "0000535739" "0" "10" "9" "107556809" "107556811" "dup" "0" "01943" "ABCA1_000168" "g.107556809_107556811dup" "" "" "" "ABCA1(NM_005502.3):c.5383-5_5383-3dupTTT, ABCA1(NM_005502.4):c.5383-5_5383-3dupTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104794528_104794530dup" "" "benign" "" "0000535740" "0" "10" "9" "107556810" "107556811" "dup" "0" "02330" "ABCA1_000272" "g.107556810_107556811dup" "" "" "" "ABCA1(NM_005502.3):c.5383-4_5383-3dupTT, ABCA1(NM_005502.4):c.5383-4_5383-3dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104794529_104794530dup" "" "benign" "" "0000535741" "0" "10" "9" "107556810" "107556811" "dup" "0" "01943" "ABCA1_000272" "g.107556810_107556811dup" "" "" "" "ABCA1(NM_005502.3):c.5383-4_5383-3dupTT, ABCA1(NM_005502.4):c.5383-4_5383-3dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104794529_104794530dup" "" "benign" "" "0000535744" "0" "10" "9" "107556811" "107556811" "dup" "0" "02330" "ABCA1_000273" "g.107556811dup" "" "" "" "ABCA1(NM_005502.3):c.5383-3dupT, ABCA1(NM_005502.4):c.5383-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104794530dup" "" "benign" "" "0000535745" "0" "10" "9" "107556811" "107556811" "dup" "0" "01943" "ABCA1_000273" "g.107556811dup" "" "" "" "ABCA1(NM_005502.3):c.5383-3dupT, ABCA1(NM_005502.4):c.5383-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104794530dup" "" "benign" "" "0000535747" "0" "10" "9" "107557177" "107557177" "subst" "0" "02330" "ABCA1_000274" "g.107557177T>C" "" "" "" "ABCA1(NM_005502.4):c.5383-386A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104794896T>C" "" "benign" "" "0000535748" "0" "10" "9" "107557865" "107557865" "subst" "0" "02330" "ABCA1_000275" "g.107557865A>G" "" "" "" "ABCA1(NM_005502.4):c.5382+469T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104795584A>G" "" "benign" "" "0000535749" "0" "10" "9" "107558369" "107558369" "subst" "2.03378E-5" "02330" "ABCA1_000276" "g.107558369C>T" "" "" "" "ABCA1(NM_005502.3):c.5347G>A (p.V1783M), ABCA1(NM_005502.4):c.5347G>A (p.V1783M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104796088C>T" "" "benign" "" "0000535750" "0" "50" "9" "107558369" "107558369" "subst" "2.03378E-5" "01943" "ABCA1_000276" "g.107558369C>T" "" "" "" "ABCA1(NM_005502.3):c.5347G>A (p.V1783M), ABCA1(NM_005502.4):c.5347G>A (p.V1783M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104796088C>T" "" "VUS" "" "0000535751" "0" "30" "9" "107558399" "107558399" "subst" "2.84597E-5" "02330" "ABCA1_000277" "g.107558399C>T" "" "" "" "ABCA1(NM_005502.4):c.5317G>A (p.V1773M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104796118C>T" "" "likely benign" "" "0000535752" "0" "30" "9" "107558580" "107558580" "subst" "0" "02330" "ABCA1_000278" "g.107558580G>C" "" "" "" "ABCA1(NM_005502.4):c.5237+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104796299G>C" "" "likely benign" "" "0000535753" "0" "50" "9" "107558664" "107558664" "subst" "0" "02330" "ABCA1_000279" "g.107558664G>A" "" "" "" "ABCA1(NM_005502.4):c.5163C>T (p.F1721=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104796383G>A" "" "VUS" "" "0000535754" "0" "30" "9" "107558696" "107558696" "subst" "0.000209054" "02330" "ABCA1_000280" "g.107558696C>T" "" "" "" "ABCA1(NM_005502.4):c.5131G>A (p.V1711I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104796415C>T" "" "likely benign" "" "0000535755" "0" "30" "9" "107558697" "107558697" "subst" "3.68998E-5" "02330" "ABCA1_000281" "g.107558697G>A" "" "" "" "ABCA1(NM_005502.4):c.5130C>T (p.Y1710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104796416G>A" "" "likely benign" "" "0000535756" "0" "10" "9" "107558752" "107558752" "subst" "0.00580369" "02330" "ABCA1_000282" "g.107558752A>G" "" "" "" "ABCA1(NM_005502.4):c.5122-47T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104796471A>G" "" "benign" "" "0000535757" "0" "10" "9" "107558983" "107558983" "subst" "0" "02330" "ABCA1_000283" "g.107558983C>A" "" "" "" "ABCA1(NM_005502.4):c.5122-278G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104796702C>A" "" "benign" "" "0000535758" "0" "10" "9" "107559059" "107559059" "subst" "0" "02330" "ABCA1_000284" "g.107559059G>A" "" "" "" "ABCA1(NM_005502.4):c.5122-354C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104796778G>A" "" "benign" "" "0000535759" "0" "10" "9" "107560291" "107560291" "subst" "0" "02330" "ABCA1_000285" "g.107560291G>A" "" "" "" "ABCA1(NM_005502.4):c.5121+411C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104798010G>A" "" "benign" "" "0000535760" "0" "10" "9" "107560747" "107560747" "subst" "0" "02330" "ABCA1_000286" "g.107560747T>C" "" "" "" "ABCA1(NM_005502.4):c.5076A>G (p.G1692=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104798466T>C" "" "benign" "" "0000535761" "0" "50" "9" "107560784" "107560784" "subst" "0.000337302" "02330" "ABCA1_000023" "g.107560784C>T" "" "" "" "ABCA1(NM_005502.4):c.5039G>A (p.R1680Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104798503C>T" "" "VUS" "" "0000535762" "0" "30" "9" "107560804" "107560804" "subst" "0.000113784" "02330" "ABCA1_000287" "g.107560804G>A" "" "" "" "ABCA1(NM_005502.4):c.5019C>T (p.V1673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104798523G>A" "" "likely benign" "" "0000535763" "0" "50" "9" "107562286" "107562286" "subst" "0.00330013" "01943" "ABCA1_000179" "g.107562286C>T" "" "" "" "ABCA1(NM_005502.3):c.4774-17G>A, ABCA1(NM_005502.4):c.4774-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104800005C>T" "" "VUS" "" "0000535764" "0" "10" "9" "107562557" "107562557" "subst" "0" "02330" "ABCA1_000288" "g.107562557G>A" "" "" "" "ABCA1(NM_005502.4):c.4773+234C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104800276G>A" "" "benign" "" "0000535765" "0" "30" "9" "107562800" "107562800" "subst" "2.8434E-5" "02330" "ABCA1_000289" "g.107562800A>G" "" "" "" "ABCA1(NM_005502.4):c.4764T>C (p.N1588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104800519A>G" "" "likely benign" "" "0000535766" "0" "10" "9" "107562835" "107562835" "subst" "0" "02330" "ABCA1_000290" "g.107562835A>G" "" "" "" "ABCA1(NM_005502.4):c.4729T>C (p.L1577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104800554A>G" "" "benign" "" "0000535767" "0" "10" "9" "107563227" "107563227" "subst" "0" "02330" "ABCA1_000291" "g.107563227T>C" "" "" "" "ABCA1(NM_005502.4):c.4699-362A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104800946T>C" "" "benign" "" "0000535768" "0" "10" "9" "107563269" "107563269" "subst" "0" "02330" "ABCA1_000292" "g.107563269T>C" "" "" "" "ABCA1(NM_005502.4):c.4699-404A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104800988T>C" "" "benign" "" "0000535769" "0" "10" "9" "107563687" "107563687" "subst" "0" "02330" "ABCA1_000293" "g.107563687G>A" "" "" "" "ABCA1(NM_005502.4):c.4698+648C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104801406G>A" "" "benign" "" "0000535770" "0" "10" "9" "107564014" "107564014" "subst" "0" "02330" "ABCA1_000294" "g.107564014G>A" "" "" "" "ABCA1(NM_005502.4):c.4698+321C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104801733G>A" "" "benign" "" "0000535771" "0" "10" "9" "107564077" "107564077" "subst" "0" "02330" "ABCA1_000295" "g.107564077G>A" "" "" "" "ABCA1(NM_005502.4):c.4698+258C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104801796G>A" "" "benign" "" "0000535772" "0" "10" "9" "107564466" "107564466" "subst" "0.0778747" "02330" "ABCA1_000296" "g.107564466C>G" "" "" "" "ABCA1(NM_005502.4):c.4593-26G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104802185C>G" "" "benign" "" "0000535773" "0" "10" "9" "107564574" "107564575" "del" "0" "02330" "ABCA1_000297" "g.107564574_107564575del" "" "" "" "ABCA1(NM_005502.4):c.4593-132_4593-131delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104802293_104802294del" "" "benign" "" "0000535774" "0" "10" "9" "107564741" "107564741" "subst" "0" "02330" "ABCA1_000298" "g.107564741T>G" "" "" "" "ABCA1(NM_005502.4):c.4593-301A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104802460T>G" "" "benign" "" "0000535775" "0" "10" "9" "107564846" "107564846" "subst" "0" "02330" "ABCA1_000299" "g.107564846T>C" "" "" "" "ABCA1(NM_005502.4):c.4593-406A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104802565T>C" "" "benign" "" "0000535776" "0" "10" "9" "107565900" "107565900" "dup" "0" "02330" "ABCA1_000300" "g.107565900dup" "" "" "" "ABCA1(NM_005502.4):c.4560-294dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104803619dup" "" "benign" "" "0000535777" "0" "10" "9" "107565919" "107565919" "subst" "0" "02330" "ABCA1_000301" "g.107565919G>A" "" "" "" "ABCA1(NM_005502.4):c.4560-322C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104803638G>A" "" "benign" "" "0000535778" "0" "10" "9" "107565993" "107565993" "subst" "0" "02330" "ABCA1_000302" "g.107565993A>G" "" "" "" "ABCA1(NM_005502.4):c.4560-396T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104803712A>G" "" "benign" "" "0000535779" "0" "10" "9" "107566516" "107566516" "dup" "0" "02330" "ABCA1_000303" "g.107566516dup" "" "" "" "ABCA1(NM_005502.4):c.4559+391dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104804235dup" "" "benign" "" "0000535780" "0" "10" "9" "107566877" "107566877" "subst" "0.887244" "02330" "ABCA1_000304" "g.107566877C>A" "" "" "" "ABCA1(NM_005502.4):c.4559+30G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104804596C>A" "" "benign" "" "0000535781" "0" "90" "9" "107566949" "107566949" "subst" "4.06289E-6" "02330" "ABCA1_000305" "g.107566949G>A" "" "" "" "ABCA1(NM_005502.4):c.4517C>T (p.S1506L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104804668G>A" "" "pathogenic" "" "0000535782" "0" "30" "9" "107568508" "107568508" "subst" "0" "02330" "ABCA1_000306" "g.107568508T>G" "" "" "" "ABCA1(NM_005502.4):c.4464+14A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104806227T>G" "" "likely benign" "" "0000535783" "0" "50" "9" "107568560" "107568560" "subst" "0" "02330" "ABCA1_000307" "g.107568560C>G" "" "" "" "ABCA1(NM_005502.4):c.4426G>C (p.V1476L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104806279C>G" "" "VUS" "" "0000535784" "0" "30" "9" "107568560" "107568560" "subst" "0" "02330" "ABCA1_000308" "g.107568560C>T" "" "" "" "ABCA1(NM_005502.4):c.4426G>A (p.V1476M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104806279C>T" "" "likely benign" "" "0000535785" "0" "10" "9" "107571375" "107571375" "subst" "0" "02330" "ABCA1_000309" "g.107571375G>A" "" "" "" "ABCA1(NM_005502.4):c.4274+372C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104809094G>A" "" "benign" "" "0000535786" "0" "70" "9" "107571796" "107571796" "subst" "0" "02330" "ABCA1_000310" "g.107571796T>C" "" "" "" "ABCA1(NM_005502.4):c.4225A>G (p.T1409A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104809515T>C" "" "likely pathogenic" "" "0000535787" "0" "30" "9" "107573064" "107573064" "subst" "4.06068E-5" "02330" "ABCA1_000311" "g.107573064G>A" "" "" "" "ABCA1(NM_005502.4):c.4175+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104810783G>A" "" "likely benign" "" "0000535788" "0" "50" "9" "107573169" "107573169" "subst" "8.12222E-6" "02330" "ABCA1_000312" "g.107573169C>T" "" "" "" "ABCA1(NM_005502.4):c.4087G>A (p.V1363M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104810888C>T" "" "VUS" "" "0000535789" "0" "30" "9" "107574835" "107574835" "subst" "4.06382E-6" "02330" "ABCA1_000313" "g.107574835G>A" "" "" "" "ABCA1(NM_005502.4):c.4050+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104812554G>A" "" "likely benign" "" "0000535790" "0" "50" "9" "107574874" "107574874" "subst" "4.06075E-6" "02330" "ABCA1_000314" "g.107574874C>T" "" "" "" "ABCA1(NM_005502.4):c.4031G>A (p.R1344Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104812593C>T" "" "VUS" "" "0000535791" "0" "50" "9" "107574946" "107574946" "subst" "0" "02330" "ABCA1_000315" "g.107574946T>C" "" "" "" "ABCA1(NM_005502.4):c.3959A>G (p.K1320R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104812665T>C" "" "VUS" "" "0000535792" "0" "10" "9" "107576246" "107576246" "subst" "0" "02330" "ABCA1_000316" "g.107576246G>A" "" "" "" "ABCA1(NM_005502.4):c.3901+153C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104813965G>A" "" "benign" "" "0000535793" "0" "30" "9" "107576407" "107576407" "subst" "8.12513E-6" "02330" "ABCA1_000317" "g.107576407A>G" "" "" "" "ABCA1(NM_005502.4):c.3893T>C (p.I1298T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104814126A>G" "" "likely benign" "" "0000535795" "0" "70" "9" "107576491" "107576491" "subst" "2.0308E-5" "02330" "ABCA1_000319" "g.107576491C>T" "" "" "" "ABCA1(NM_005502.4):c.3809G>A (p.R1270Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104814210C>T" "" "likely pathogenic" "" "0000535796" "0" "30" "9" "107576693" "107576693" "subst" "8.12295E-6" "02330" "ABCA1_000320" "g.107576693C>G" "" "" "" "ABCA1(NM_005502.4):c.3787+15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104814412C>G" "" "likely benign" "" "0000535797" "0" "30" "9" "107576724" "107576724" "subst" "0" "02330" "ABCA1_000321" "g.107576724C>T" "" "" "" "ABCA1(NM_005502.4):c.3771G>A (p.V1257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104814443C>T" "" "likely benign" "" "0000535798" "0" "10" "9" "107576727" "107576727" "subst" "0.000129947" "02330" "ABCA1_000322" "g.107576727C>T" "" "" "" "ABCA1(NM_005502.4):c.3768G>A (p.G1256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104814446C>T" "" "benign" "" "0000535799" "0" "10" "9" "107578103" "107578103" "subst" "0" "02330" "ABCA1_000323" "g.107578103A>C" "" "" "" "ABCA1(NM_005502.4):c.3738+321T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104815822A>C" "" "benign" "" "0000535800" "0" "90" "9" "107578423" "107578423" "subst" "0" "02330" "ABCA1_000324" "g.107578423C>G" "" "" "" "ABCA1(NM_005502.4):c.3738+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104816142C>G" "" "pathogenic" "" "0000535801" "0" "30" "9" "107578543" "107578543" "subst" "0" "02330" "ABCA1_000325" "g.107578543C>T" "" "" "" "ABCA1(NM_005502.4):c.3619G>A (p.V1207M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104816262C>T" "" "likely benign" "" "0000535803" "0" "30" "9" "107578936" "107578939" "del" "0" "02330" "ABCA1_000326" "g.107578936_107578939del" "" "" "" "ABCA1(NM_005502.4):c.3536-298_3536-295delCCCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104816655_104816658del" "" "likely benign" "" "0000535804" "0" "50" "9" "107579613" "107579613" "subst" "0" "02330" "ABCA1_000327" "g.107579613C>T" "" "" "" "ABCA1(NM_005502.4):c.3535G>A (p.D1179N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104817332C>T" "" "VUS" "" "0000535805" "0" "30" "9" "107579638" "107579638" "subst" "0" "02330" "ABCA1_000328" "g.107579638G>A" "" "" "" "ABCA1(NM_005502.4):c.3510C>T (p.D1170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104817357G>A" "" "likely benign" "" "0000535806" "0" "50" "9" "107579651" "107579651" "subst" "0" "02330" "ABCA1_000329" "g.107579651C>T" "" "" "" "ABCA1(NM_005502.4):c.3497G>A (p.G1166D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104817370C>T" "" "VUS" "" "0000535807" "0" "30" "9" "107579678" "107579678" "subst" "0.000113734" "02330" "ABCA1_000010" "g.107579678C>T" "" "" "" "ABCA1(NM_005502.4):c.3470G>A (p.S1157N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104817397C>T" "" "likely benign" "" "0000535808" "0" "30" "9" "107579750" "107579750" "subst" "0" "02330" "ABCA1_000330" "g.107579750C>T" "" "" "" "ABCA1(NM_005502.4):c.3463-65G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104817469C>T" "" "likely benign" "" "0000535809" "0" "30" "9" "107579818" "107579818" "subst" "0" "02330" "ABCA1_000331" "g.107579818T>C" "" "" "" "ABCA1(NM_005502.4):c.3463-133A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104817537T>C" "" "likely benign" "" "0000535810" "0" "10" "9" "107580464" "107580464" "del" "0" "02330" "ABCA1_000332" "g.107580464del" "" "" "" "ABCA1(NM_005502.4):c.3462+493delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104818183del" "" "benign" "" "0000535811" "0" "10" "9" "107580657" "107580657" "subst" "0" "02330" "ABCA1_000333" "g.107580657G>A" "" "" "" "ABCA1(NM_005502.4):c.3462+287C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104818376G>A" "" "benign" "" "0000535812" "0" "10" "9" "107580659" "107580659" "subst" "0" "02330" "ABCA1_000334" "g.107580659C>T" "" "" "" "ABCA1(NM_005502.4):c.3462+285G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104818378C>T" "" "benign" "" "0000535813" "0" "10" "9" "107580842" "107580842" "subst" "0" "02330" "ABCA1_000335" "g.107580842T>C" "" "" "" "ABCA1(NM_005502.4):c.3462+102A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104818561T>C" "" "benign" "" "0000535814" "0" "30" "9" "107580974" "107580974" "subst" "3.24863E-5" "01943" "ABCA1_000203" "g.107580974G>A" "" "" "" "ABCA1(NM_005502.3):c.3432C>T (p.N1144=), ABCA1(NM_005502.4):c.3432C>T (p.N1144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104818693G>A" "" "likely benign" "" "0000535815" "0" "50" "9" "107581018" "107581018" "subst" "0" "02330" "ABCA1_000336" "g.107581018A>C" "" "" "" "ABCA1(NM_005502.4):c.3388T>G (p.L1130V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104818737A>C" "" "VUS" "" "0000535816" "0" "30" "9" "107581028" "107581028" "subst" "4.06081E-6" "02330" "ABCA1_000337" "g.107581028G>A" "" "" "" "ABCA1(NM_005502.4):c.3378C>T (p.Y1126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104818747G>A" "" "likely benign" "" "0000535817" "0" "50" "9" "107581162" "107581162" "subst" "2.90035E-5" "02330" "ABCA1_000338" "g.107581162G>A" "" "" "" "ABCA1(NM_005502.4):c.3244C>T (p.R1082C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104818881G>A" "" "VUS" "" "0000535818" "0" "10" "9" "107581307" "107581307" "subst" "0" "02330" "ABCA1_000339" "g.107581307C>T" "" "" "" "ABCA1(NM_005502.4):c.3242-143G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104819026C>T" "" "benign" "" "0000535819" "0" "10" "9" "107581749" "107581749" "subst" "0" "02330" "ABCA1_000340" "g.107581749A>C" "" "" "" "ABCA1(NM_005502.4):c.3241+118T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104819468A>C" "" "benign" "" "0000535820" "0" "50" "9" "107581963" "107581963" "subst" "1.62475E-5" "02330" "ABCA1_000341" "g.107581963C>T" "" "" "" "ABCA1(NM_005502.4):c.3145G>A (p.G1049R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104819682C>T" "" "VUS" "" "0000535821" "0" "50" "9" "107581983" "107581983" "subst" "0" "02330" "ABCA1_000342" "g.107581983G>A" "" "" "" "ABCA1(NM_005502.4):c.3125C>T (p.S1042F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104819702G>A" "" "VUS" "" "0000535822" "0" "10" "9" "107582015" "107582015" "dup" "0" "02330" "ABCA1_000343" "g.107582015dup" "" "" "" "ABCA1(NM_005502.4):c.3104-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104819734dup" "" "benign" "" "0000535823" "0" "50" "9" "107582231" "107582231" "subst" "0" "02330" "ABCA1_000344" "g.107582231T>C" "" "" "" "ABCA1(NM_005502.4):c.3080A>G (p.K1027R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104819950T>C" "" "VUS" "" "0000535824" "0" "30" "9" "107582317" "107582317" "subst" "0" "02330" "ABCA1_000345" "g.107582317G>T" "" "" "" "ABCA1(NM_005502.4):c.2994C>A (p.A998=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104820036G>T" "" "likely benign" "" "0000535825" "0" "10" "9" "107582341" "107582341" "subst" "4.0627E-5" "02330" "ABCA1_000346" "g.107582341G>A" "" "" "" "ABCA1(NM_005502.4):c.2970C>T (p.V990=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104820060G>A" "" "benign" "" "0000535826" "0" "10" "9" "107582780" "107582780" "subst" "0" "02330" "ABCA1_000347" "g.107582780G>A" "" "" "" "ABCA1(NM_005502.4):c.2961-430C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104820499G>A" "" "benign" "" "0000535827" "0" "30" "9" "107583513" "107583513" "subst" "0" "02330" "ABCA1_000348" "g.107583513A>G" "" "" "" "ABCA1(NM_005502.4):c.2960+143T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104821232A>G" "" "likely benign" "" "0000535828" "0" "10" "9" "107584031" "107584031" "subst" "0" "02330" "ABCA1_000349" "g.107584031C>T" "" "" "" "ABCA1(NM_005502.4):c.2829-244G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104821750C>T" "" "benign" "" "0000535829" "0" "30" "9" "107584794" "107584794" "subst" "4.06144E-6" "02330" "ABCA1_000350" "g.107584794C>G" "" "" "" "ABCA1(NM_005502.4):c.2811G>C (p.A937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104822513C>G" "" "likely benign" "" "0000535830" "0" "30" "9" "107584854" "107584854" "subst" "0" "02330" "ABCA1_000351" "g.107584854A>G" "" "" "" "ABCA1(NM_005502.4):c.2751T>C (p.D917=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104822573A>G" "" "likely benign" "" "0000535831" "0" "10" "9" "107585016" "107585016" "subst" "0" "02330" "ABCA1_000352" "g.107585016G>C" "" "" "" "ABCA1(NM_005502.4):c.2657-68C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104822735G>C" "" "benign" "" "0000535832" "0" "30" "9" "107585023" "107585023" "subst" "0" "02330" "ABCA1_000353" "g.107585023C>T" "" "" "" "ABCA1(NM_005502.4):c.2657-75G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104822742C>T" "" "likely benign" "" "0000535833" "0" "30" "9" "107585316" "107585316" "subst" "0" "02330" "ABCA1_000354" "g.107585316T>G" "" "" "" "ABCA1(NM_005502.4):c.2657-368A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104823035T>G" "" "likely benign" "" "0000535834" "0" "30" "9" "107585358" "107585358" "del" "0" "02330" "ABCA1_000355" "g.107585358del" "" "" "" "ABCA1(NM_005502.4):c.2657-398delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104823077del" "" "likely benign" "" "0000535835" "0" "10" "9" "107585358" "107585358" "dup" "0" "02330" "ABCA1_000356" "g.107585358dup" "" "" "" "ABCA1(NM_005502.4):c.2657-398dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104823077dup" "" "benign" "" "0000535836" "0" "10" "9" "107586524" "107586527" "del" "0" "02330" "ABCA1_000357" "g.107586524_107586527del" "" "" "" "ABCA1(NM_005502.4):c.2656+222_2656+225delCTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104824243_104824246del" "" "benign" "" "0000535837" "0" "10" "9" "107587325" "107587325" "subst" "0" "02330" "ABCA1_000358" "g.107587325G>A" "" "" "" "ABCA1(NM_005502.4):c.2543-466C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104825044G>A" "" "benign" "" "0000535838" "0" "30" "9" "107588572" "107588572" "subst" "0" "02330" "ABCA1_000359" "g.107588572A>G" "" "" "" "ABCA1(NM_005502.4):c.2338-404T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104826291A>G" "" "likely benign" "" "0000535839" "0" "10" "9" "107589134" "107589134" "subst" "0" "02330" "ABCA1_000360" "g.107589134A>T" "" "" "" "ABCA1(NM_005502.4):c.2337+95T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104826853A>T" "" "benign" "" "0000535840" "0" "30" "9" "107589255" "107589255" "subst" "0.000439639" "02330" "ABCA1_000361" "g.107589255C>G" "" "" "" "ABCA1(NM_005502.4):c.2311G>C (p.V771L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104826974C>G" "" "likely benign" "" "0000535841" "0" "30" "9" "107589277" "107589277" "subst" "4.06405E-6" "02330" "ABCA1_000362" "g.107589277C>A" "" "" "" "ABCA1(NM_005502.4):c.2289G>T (p.L763=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104826996C>A" "" "likely benign" "" "0000535842" "0" "10" "9" "107589397" "107589397" "subst" "0.000755446" "02330" "ABCA1_000363" "g.107589397G>A" "" "" "" "ABCA1(NM_005502.4):c.2169C>T (p.S723=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104827116G>A" "" "benign" "" "0000535843" "0" "50" "9" "107589432" "107589432" "subst" "8.12546E-6" "02330" "ABCA1_000364" "g.107589432A>G" "" "" "" "ABCA1(NM_005502.4):c.2134T>C (p.Y712H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104827151A>G" "" "VUS" "" "0000535844" "0" "10" "9" "107589580" "107589580" "subst" "0" "02330" "ABCA1_000365" "g.107589580A>T" "" "" "" "ABCA1(NM_005502.4):c.2116-130T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104827299A>T" "" "benign" "" "0000535845" "0" "10" "9" "107589630" "107589630" "subst" "0" "02330" "ABCA1_000366" "g.107589630C>T" "" "" "" "ABCA1(NM_005502.4):c.2116-180G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104827349C>T" "" "benign" "" "0000535846" "0" "10" "9" "107589744" "107589744" "subst" "0" "02330" "ABCA1_000367" "g.107589744C>T" "" "" "" "ABCA1(NM_005502.4):c.2116-294G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104827463C>T" "" "benign" "" "0000535847" "0" "30" "9" "107589795" "107589795" "subst" "0" "02330" "ABCA1_000368" "g.107589795C>G" "" "" "" "ABCA1(NM_005502.4):c.2116-345G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104827514C>G" "" "likely benign" "" "0000535848" "0" "10" "9" "107591024" "107591024" "subst" "0" "02330" "ABCA1_000369" "g.107591024C>T" "" "" "" "ABCA1(NM_005502.4):c.2115+173G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104828743C>T" "" "benign" "" "0000535849" "0" "10" "9" "107591082" "107591082" "subst" "0" "02330" "ABCA1_000370" "g.107591082G>T" "" "" "" "ABCA1(NM_005502.4):c.2115+115C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104828801G>T" "" "benign" "" "0000535850" "0" "10" "9" "107591116" "107591116" "subst" "0" "02330" "ABCA1_000371" "g.107591116T>C" "" "" "" "ABCA1(NM_005502.4):c.2115+81A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104828835T>C" "" "benign" "" "0000535851" "0" "30" "9" "107591185" "107591185" "subst" "0" "02330" "ABCA1_000372" "g.107591185A>C" "" "" "" "ABCA1(NM_005502.4):c.2115+12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104828904A>C" "" "likely benign" "" "0000535853" "0" "70" "9" "107591394" "107591394" "subst" "1.21923E-5" "02330" "ABCA1_000374" "g.107591394T>C" "" "" "" "ABCA1(NM_005502.4):c.1918A>G (p.M640V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104829113T>C" "" "likely pathogenic" "" "0000535854" "0" "10" "9" "107591478" "107591478" "subst" "0" "02330" "ABCA1_000375" "g.107591478G>A" "" "" "" "ABCA1(NM_005502.4):c.1893-59C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104829197G>A" "" "benign" "" "0000535855" "0" "10" "9" "107591807" "107591807" "subst" "0" "02330" "ABCA1_000376" "g.107591807C>T" "" "" "" "ABCA1(NM_005502.4):c.1893-388G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104829526C>T" "" "benign" "" "0000535856" "0" "10" "9" "107592977" "107592977" "subst" "0" "02330" "ABCA1_000377" "g.107592977A>T" "" "" "" "ABCA1(NM_005502.4):c.1892+229T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104830696A>T" "" "benign" "" "0000535857" "0" "10" "9" "107592981" "107592981" "del" "0" "02330" "ABCA1_000378" "g.107592981del" "" "" "" "ABCA1(NM_005502.4):c.1892+235delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104830700del" "" "benign" "" "0000535858" "0" "30" "9" "107592981" "107592981" "dup" "0" "02330" "ABCA1_000379" "g.107592981dup" "" "" "" "ABCA1(NM_005502.4):c.1892+235dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104830700dup" "" "likely benign" "" "0000535859" "0" "10" "9" "107593182" "107593182" "subst" "0.359612" "02330" "ABCA1_000380" "g.107593182A>T" "" "" "" "ABCA1(NM_005502.4):c.1892+24T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104830901A>T" "" "benign" "" "0000535860" "0" "50" "9" "107593272" "107593272" "subst" "3.24886E-5" "02330" "ABCA1_000117" "g.107593272G>A" "" "" "" "ABCA1(NM_005502.4):c.1826C>T (p.T609M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104830991G>A" "" "VUS" "" "0000535861" "0" "50" "9" "107593279" "107593279" "subst" "4.06078E-6" "02330" "ABCA1_000381" "g.107593279C>A" "" "" "" "ABCA1(NM_005502.4):c.1819G>T (p.V607L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104830998C>A" "" "VUS" "" "0000535862" "0" "70" "9" "107593362" "107593362" "subst" "0" "02330" "ABCA1_000382" "g.107593362C>T" "" "" "" "ABCA1(NM_005502.4):c.1736G>A (p.R579Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104831081C>T" "" "likely pathogenic" "" "0000535863" "0" "90" "9" "107593374" "107593374" "subst" "0" "02330" "ABCA1_000383" "g.107593374T>A" "" "" "" "ABCA1(NM_005502.4):c.1724A>T (p.D575V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104831093T>A" "" "pathogenic" "" "0000535864" "0" "30" "9" "107593382" "107593382" "subst" "0.000134215" "02330" "ABCA1_000384" "g.107593382C>T" "" "" "" "ABCA1(NM_005502.4):c.1716G>A (p.G572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104831101C>T" "" "likely benign" "" "0000535865" "0" "10" "9" "107593430" "107593430" "subst" "0" "02330" "ABCA1_000385" "g.107593430T>A" "" "" "" "ABCA1(NM_005502.4):c.1716-48A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104831149T>A" "" "benign" "" "0000535866" "0" "10" "9" "107593450" "107593451" "del" "0" "02330" "ABCA1_000386" "g.107593450_107593451del" "" "" "" "ABCA1(NM_005502.4):c.1716-50_1716-49delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104831169_104831170del" "" "benign" "" "0000535867" "0" "10" "9" "107593451" "107593451" "del" "0" "02330" "ABCA1_000387" "g.107593451del" "" "" "" "ABCA1(NM_005502.4):c.1716-49delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104831170del" "" "benign" "" "0000535868" "0" "10" "9" "107593451" "107593451" "dup" "0" "02330" "ABCA1_000388" "g.107593451dup" "" "" "" "ABCA1(NM_005502.4):c.1716-49dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104831170dup" "" "benign" "" "0000535869" "0" "30" "9" "107593515" "107593515" "del" "0" "02330" "ABCA1_000389" "g.107593515del" "" "" "" "ABCA1(NM_005502.4):c.1716-121delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104831234del" "" "likely benign" "" "0000535870" "0" "10" "9" "107593515" "107593515" "dup" "0" "02330" "ABCA1_000390" "g.107593515dup" "" "" "" "ABCA1(NM_005502.4):c.1716-121dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104831234dup" "" "benign" "" "0000535871" "0" "10" "9" "107593620" "107593620" "subst" "0" "02330" "ABCA1_000391" "g.107593620T>C" "" "" "" "ABCA1(NM_005502.4):c.1716-238A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104831339T>C" "" "benign" "" "0000535872" "0" "70" "9" "107593939" "107593939" "subst" "2.0311E-5" "02330" "ABCA1_000392" "g.107593939A>G" "" "" "" "ABCA1(NM_005502.4):c.1679T>C (p.I560T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104831658A>G" "" "likely pathogenic" "" "0000535873" "0" "30" "9" "107593982" "107593982" "subst" "6.90378E-5" "02330" "ABCA1_000393" "g.107593982T>C" "" "" "" "ABCA1(NM_005502.4):c.1636A>G (p.I546V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104831701T>C" "" "likely benign" "" "0000535874" "0" "30" "9" "107594113" "107594113" "subst" "0" "02330" "ABCA1_000394" "g.107594113T>C" "" "" "" "ABCA1(NM_005502.4):c.1510-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104831832T>C" "" "likely benign" "" "0000535875" "0" "10" "9" "107594364" "107594364" "subst" "0" "02330" "ABCA1_000395" "g.107594364A>G" "" "" "" "ABCA1(NM_005502.4):c.1510-256T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104832083A>G" "" "benign" "" "0000535876" "0" "10" "9" "107594474" "107594474" "subst" "0" "02330" "ABCA1_000396" "g.107594474T>C" "" "" "" "ABCA1(NM_005502.4):c.1510-366A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104832193T>C" "" "benign" "" "0000535877" "0" "10" "9" "107594515" "107594515" "subst" "0" "02330" "ABCA1_000397" "g.107594515A>G" "" "" "" "ABCA1(NM_005502.4):c.1509+340T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104832234A>G" "" "benign" "" "0000535878" "0" "10" "9" "107594772" "107594772" "del" "0" "02330" "ABCA1_000398" "g.107594772del" "" "" "" "ABCA1(NM_005502.4):c.1509+84delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104832491del" "" "benign" "" "0000535879" "0" "50" "9" "107594878" "107594878" "subst" "0.000556332" "02330" "ABCA1_000027" "g.107594878G>A" "" "" "" "ABCA1(NM_005502.4):c.1486C>T (p.R496W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104832597G>A" "" "VUS" "" "0000535880" "0" "70" "9" "107594883" "107594883" "subst" "0" "02330" "ABCA1_000399" "g.107594883G>T" "" "" "" "ABCA1(NM_005502.4):c.1481C>A (p.A494E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104832602G>T" "" "likely pathogenic" "" "0000535881" "0" "50" "9" "107594968" "107594968" "subst" "0" "02330" "ABCA1_000400" "g.107594968A>G" "" "" "" "ABCA1(NM_005502.4):c.1396T>C (p.F466L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104832687A>G" "" "VUS" "" "0000535882" "0" "30" "9" "107595020" "107595020" "subst" "1.62443E-5" "02330" "ABCA1_000401" "g.107595020A>G" "" "" "" "ABCA1(NM_005502.4):c.1344T>C (p.F448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104832739A>G" "" "likely benign" "" "0000535883" "0" "50" "9" "107595024" "107595024" "subst" "0" "02330" "ABCA1_000402" "g.107595024T>G" "" "" "" "ABCA1(NM_005502.4):c.1340A>C (p.H447P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104832743T>G" "" "VUS" "" "0000535884" "0" "10" "9" "107595228" "107595228" "dup" "0" "02330" "ABCA1_000403" "g.107595228dup" "" "" "" "ABCA1(NM_005502.4):c.1312-168dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104832947dup" "" "benign" "" "0000535885" "0" "10" "9" "107595602" "107595602" "subst" "0" "02330" "ABCA1_000404" "g.107595602A>C" "" "" "" "ABCA1(NM_005502.4):c.1312-550T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104833321A>C" "" "benign" "" "0000535886" "0" "10" "9" "107598884" "107598884" "subst" "0" "02330" "ABCA1_000405" "g.107598884T>G" "" "" "" "ABCA1(NM_005502.4):c.1311+377A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104836603T>G" "" "benign" "" "0000535887" "0" "50" "9" "107599371" "107599371" "subst" "4.47191E-5" "02330" "ABCA1_000406" "g.107599371T>G" "" "" "" "ABCA1(NM_005502.4):c.1201A>C (p.K401Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104837090T>G" "" "VUS" "" "0000535888" "0" "10" "9" "107599376" "107599376" "subst" "0.00365255" "01943" "ABCA1_000031" "g.107599376A>G" "" "" "" "ABCA1(NM_005502.3):c.1196T>C (p.V399A), ABCA1(NM_005502.4):c.1196T>C (p.V399A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104837095A>G" "" "benign" "" "0000535889" "0" "30" "9" "107599385" "107599385" "subst" "0.000269665" "02330" "ABCA1_000407" "g.107599385C>T" "" "" "" "ABCA1(NM_005502.4):c.1195-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104837104C>T" "" "likely benign" "" "0000535890" "0" "30" "9" "107599396" "107599396" "subst" "0" "02330" "ABCA1_000408" "g.107599396C>A" "" "" "" "ABCA1(NM_005502.4):c.1195-19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104837115C>A" "" "likely benign" "" "0000535891" "0" "10" "9" "107599418" "107599420" "del" "0" "02330" "ABCA1_000409" "g.107599418_107599420del" "" "" "" "ABCA1(NM_005502.4):c.1195-38_1195-36delCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104837137_104837139del" "" "benign" "" "0000535892" "0" "10" "9" "107599438" "107599439" "ins" "0" "02330" "ABCA1_000410" "g.107599438_107599439insC" "" "" "" "ABCA1(NM_005502.4):c.1195-62_1195-61insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104837157_104837158insC" "" "benign" "" "0000535893" "0" "10" "9" "107599481" "107599481" "subst" "0" "02330" "ABCA1_000411" "g.107599481T>C" "" "" "" "ABCA1(NM_005502.4):c.1195-104A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104837200T>C" "" "benign" "" "0000535894" "0" "30" "9" "107599685" "107599693" "del" "0" "02330" "ABCA1_000412" "g.107599685_107599693del" "" "" "" "ABCA1(NM_005502.4):c.1194+19_1194+27delAAGACTCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104837404_104837412del" "" "likely benign" "" "0000535895" "0" "10" "9" "107600168" "107600168" "subst" "0" "02330" "ABCA1_000413" "g.107600168A>G" "" "" "" "ABCA1(NM_005502.4):c.1055-320T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104837887A>G" "" "benign" "" "0000535896" "0" "10" "9" "107600193" "107600193" "subst" "0" "02330" "ABCA1_000414" "g.107600193A>G" "" "" "" "ABCA1(NM_005502.4):c.1055-345T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104837912A>G" "" "benign" "" "0000535897" "0" "10" "9" "107602342" "107602342" "subst" "0" "02330" "ABCA1_000415" "g.107602342T>G" "" "" "" "ABCA1(NM_005502.4):c.1054+218A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104840061T>G" "" "benign" "" "0000535898" "0" "30" "9" "107602586" "107602586" "subst" "0.000812209" "02330" "ABCA1_000034" "g.107602586G>A" "" "" "" "ABCA1(NM_005502.4):c.1028C>T (p.A343V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104840305G>A" "" "likely benign" "" "0000535899" "0" "30" "9" "107602687" "107602687" "subst" "2.43651E-5" "02330" "ABCA1_000416" "g.107602687G>A" "" "" "" "ABCA1(NM_005502.4):c.927C>T (p.C309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104840406G>A" "" "likely benign" "" "0000535900" "0" "50" "9" "107602794" "107602794" "subst" "2.44573E-5" "02330" "ABCA1_000417" "g.107602794T>G" "" "" "" "ABCA1(NM_005502.4):c.820A>C (p.S274R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104840513T>G" "" "VUS" "" "0000535901" "0" "10" "9" "107602814" "107602814" "dup" "0" "02330" "ABCA1_000418" "g.107602814dup" "" "" "" "ABCA1(NM_005502.4):c.814-14dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104840533dup" "" "benign" "" "0000535902" "0" "10" "9" "107603043" "107603043" "subst" "0" "02330" "ABCA1_000419" "g.107603043G>A" "" "" "" "ABCA1(NM_005502.4):c.814-243C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104840762G>A" "" "benign" "" "0000535903" "0" "30" "9" "107603085" "107603085" "subst" "0" "02330" "ABCA1_000420" "g.107603085C>T" "" "" "" "ABCA1(NM_005502.4):c.814-285G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104840804C>T" "" "likely benign" "" "0000535904" "0" "30" "9" "107603158" "107603158" "subst" "0" "02330" "ABCA1_000421" "g.107603158C>T" "" "" "" "ABCA1(NM_005502.4):c.814-358G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104840877C>T" "" "likely benign" "" "0000535905" "0" "10" "9" "107603174" "107603174" "subst" "0" "02330" "ABCA1_000422" "g.107603174C>T" "" "" "" "ABCA1(NM_005502.4):c.814-374G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104840893C>T" "" "benign" "" "0000535906" "0" "10" "9" "107603209" "107603210" "del" "0" "02330" "ABCA1_000423" "g.107603209_107603210del" "" "" "" "ABCA1(NM_005502.4):c.814-408_814-407delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104840928_104840929del" "" "benign" "" "0000535907" "0" "30" "9" "107607817" "107607817" "subst" "0" "02330" "ABCA1_000424" "g.107607817T>C" "" "" "" "ABCA1(NM_005502.4):c.754A>G (p.K252E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104845536T>C" "" "likely benign" "" "0000535908" "0" "10" "9" "107620332" "107620332" "subst" "0" "02330" "ABCA1_000425" "g.107620332G>A" "" "" "" "ABCA1(NM_005502.4):c.720+471C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104858051G>A" "" "benign" "" "0000535909" "0" "10" "9" "107620387" "107620387" "subst" "0" "02330" "ABCA1_000426" "g.107620387C>T" "" "" "" "ABCA1(NM_005502.4):c.720+416G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104858106C>T" "" "benign" "" "0000535910" "0" "30" "9" "107620468" "107620468" "del" "0" "02330" "ABCA1_000427" "g.107620468del" "" "" "" "ABCA1(NM_005502.4):c.720+345delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104858187del" "" "likely benign" "" "0000535911" "0" "30" "9" "107620797" "107620797" "subst" "0.0010193" "02325" "ABCA1_000139" "g.107620797A>G" "" "" "" "ABCA1(NM_005502.4):c.720+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104858516A>G" "" "likely benign" "" "0000535912" "0" "30" "9" "107620808" "107620808" "subst" "8.1213E-6" "02330" "ABCA1_000428" "g.107620808T>C" "" "" "" "ABCA1(NM_005502.4):c.715A>G (p.I239V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104858527T>C" "" "likely benign" "" "0000535913" "0" "30" "9" "107620835" "107620835" "subst" "0.0127504" "02330" "ABCA1_000429" "g.107620835G>A" "" "" "" "ABCA1(NM_005502.4):c.688C>T (p.R230C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104858554G>A" "" "likely benign" "" "0000535914" "0" "50" "9" "107620852" "107620852" "subst" "0" "02330" "ABCA1_000430" "g.107620852G>A" "" "" "" "ABCA1(NM_005502.4):c.671C>T (p.A224V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104858571G>A" "" "VUS" "" "0000535915" "0" "10" "9" "107620867" "107620867" "subst" "0.322173" "02330" "ABCA1_000431" "g.107620867C>T" "" "" "" "ABCA1(NM_005502.4):c.656G>A (p.R219K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104858586C>T" "" "benign" "" "0000535916" "0" "10" "9" "107620889" "107620889" "subst" "0.00109232" "02330" "ABCA1_000432" "g.107620889A>T" "" "" "" "ABCA1(NM_005502.4):c.634T>A (p.S212T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104858608A>T" "" "benign" "" "0000535917" "0" "10" "9" "107621140" "107621140" "subst" "0" "02330" "ABCA1_000433" "g.107621140A>C" "" "" "" "ABCA1(NM_005502.4):c.544-161T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104858859A>C" "" "benign" "" "0000535918" "0" "10" "9" "107623570" "107623570" "subst" "0" "02330" "ABCA1_000434" "g.107623570G>T" "" "" "" "ABCA1(NM_005502.4):c.543+390C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104861289G>T" "" "benign" "" "0000535919" "0" "10" "9" "107623626" "107623626" "subst" "0" "02330" "ABCA1_000435" "g.107623626C>T" "" "" "" "ABCA1(NM_005502.4):c.543+334G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104861345C>T" "" "benign" "" "0000535920" "0" "10" "9" "107623750" "107623750" "subst" "0" "02330" "ABCA1_000436" "g.107623750T>G" "" "" "" "ABCA1(NM_005502.4):c.543+210A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104861469T>G" "" "benign" "" "0000535921" "0" "10" "9" "107624095" "107624095" "subst" "0" "02330" "ABCA1_000437" "g.107624095G>C" "" "" "" "ABCA1(NM_005502.4):c.422-14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104861814G>C" "" "benign" "" "0000535922" "0" "30" "9" "107624097" "107624097" "subst" "4.11303E-5" "02330" "ABCA1_000438" "g.107624097G>A" "" "" "" "ABCA1(NM_005502.4):c.422-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104861816G>A" "" "likely benign" "" "0000535923" "0" "10" "9" "107624138" "107624138" "del" "0" "02330" "ABCA1_000439" "g.107624138del" "" "" "" "ABCA1(NM_005502.4):c.422-43delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104861857del" "" "benign" "" "0000535924" "0" "10" "9" "107624138" "107624138" "dup" "0" "02330" "ABCA1_000440" "g.107624138dup" "" "" "" "ABCA1(NM_005502.4):c.422-43dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104861857dup" "" "benign" "" "0000535925" "0" "10" "9" "107624209" "107624209" "subst" "0" "02330" "ABCA1_000441" "g.107624209C>T" "" "" "" "ABCA1(NM_005502.4):c.422-128G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104861928C>T" "" "benign" "" "0000535926" "0" "10" "9" "107624352" "107624357" "dup" "0" "02330" "ABCA1_000442" "g.107624352_107624357dup" "" "" "" "ABCA1(NM_005502.4):c.422-255_422-250dupGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104862071_104862076dup" "" "benign" "" "0000535927" "0" "10" "9" "107624356" "107624357" "del" "0" "02330" "ABCA1_000443" "g.107624356_107624357del" "" "" "" "ABCA1(NM_005502.4):c.422-251_422-250delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104862075_104862076del" "" "benign" "" "0000535928" "0" "10" "9" "107624356" "107624357" "dup" "0" "02330" "ABCA1_000444" "g.107624356_107624357dup" "" "" "" "ABCA1(NM_005502.4):c.422-251_422-250dupGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104862075_104862076dup" "" "benign" "" "0000535929" "0" "10" "9" "107624383" "107624383" "subst" "0" "02330" "ABCA1_000445" "g.107624383T>C" "" "" "" "ABCA1(NM_005502.4):c.422-302A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104862102T>C" "" "benign" "" "0000535930" "0" "10" "9" "107624389" "107624389" "subst" "0" "02330" "ABCA1_000446" "g.107624389T>C" "" "" "" "ABCA1(NM_005502.4):c.422-308A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104862108T>C" "" "benign" "" "0000535931" "0" "10" "9" "107645080" "107645080" "subst" "0" "02330" "ABCA1_000447" "g.107645080C>T" "" "" "" "ABCA1(NM_005502.4):c.421+240G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104882799C>T" "" "benign" "" "0000535932" "0" "50" "9" "107645320" "107645320" "subst" "4.06101E-6" "02330" "ABCA1_000448" "g.107645320T>C" "" "" "" "ABCA1(NM_005502.4):c.421A>G (p.N141D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104883039T>C" "" "VUS" "" "0000535933" "0" "10" "9" "107645674" "107645674" "subst" "0" "02330" "ABCA1_000449" "g.107645674T>C" "" "" "" "ABCA1(NM_005502.4):c.303-236A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104883393T>C" "" "benign" "" "0000535934" "0" "10" "9" "107646260" "107646260" "subst" "0" "02330" "ABCA1_000450" "g.107646260T>C" "" "" "" "ABCA1(NM_005502.4):c.302+448A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104883979T>C" "" "benign" "" "0000535935" "0" "10" "9" "107646289" "107646289" "subst" "0" "02330" "ABCA1_000451" "g.107646289C>T" "" "" "" "ABCA1(NM_005502.4):c.302+419G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104884008C>T" "" "benign" "" "0000535936" "0" "70" "9" "107646702" "107646702" "subst" "0" "02330" "ABCA1_000452" "g.107646702A>G" "" "" "" "ABCA1(NM_005502.4):c.302+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104884421A>G" "" "likely pathogenic" "" "0000535937" "0" "50" "9" "107646762" "107646762" "subst" "1.21829E-5" "02330" "ABCA1_000453" "g.107646762C>T" "" "" "" "ABCA1(NM_005502.4):c.248G>A (p.R83H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104884481C>T" "" "VUS" "" "0000535938" "0" "70" "9" "107646803" "107646803" "subst" "0" "02330" "ABCA1_000454" "g.107646803C>T" "" "" "" "ABCA1(NM_005502.4):c.207G>A (p.W69*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104884522C>T" "" "likely pathogenic" "" "0000535939" "0" "50" "9" "107647019" "107647019" "subst" "0" "02330" "ABCA1_000455" "g.107647019C>T" "" "" "" "ABCA1(NM_005502.4):c.161-170G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104884738C>T" "" "VUS" "" "0000535940" "0" "10" "9" "107647077" "107647077" "subst" "0" "02330" "ABCA1_000456" "g.107647077G>A" "" "" "" "ABCA1(NM_005502.4):c.161-228C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104884796G>A" "" "benign" "" "0000535941" "0" "10" "9" "107647121" "107647121" "subst" "0" "02330" "ABCA1_000457" "g.107647121A>G" "" "" "" "ABCA1(NM_005502.4):c.161-272T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104884840A>G" "" "benign" "" "0000535942" "0" "10" "9" "107647220" "107647220" "subst" "0" "02330" "ABCA1_000458" "g.107647220C>T" "" "" "" "ABCA1(NM_005502.4):c.161-371G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104884939C>T" "" "benign" "" "0000535943" "0" "10" "9" "107651174" "107651174" "subst" "0" "02330" "ABCA1_000459" "g.107651174T>C" "" "" "" "ABCA1(NM_005502.4):c.160+209A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104888893T>C" "" "benign" "" "0000535944" "0" "10" "9" "107651212" "107651212" "subst" "0" "02330" "ABCA1_000460" "g.107651212T>C" "" "" "" "ABCA1(NM_005502.4):c.160+171A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104888931T>C" "" "benign" "" "0000535945" "0" "50" "9" "107651440" "107651440" "subst" "4.46998E-5" "02330" "ABCA1_000461" "g.107651440T>C" "" "" "" "ABCA1(NM_005502.4):c.103A>G (p.I35V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104889159T>C" "" "VUS" "" "0000535946" "0" "50" "9" "107651449" "107651449" "subst" "0" "02330" "ABCA1_000462" "g.107651449G>T" "" "" "" "ABCA1(NM_005502.4):c.94C>A (p.P32T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104889168G>T" "" "VUS" "" "0000535947" "0" "10" "9" "107651526" "107651526" "subst" "0.14169" "02330" "ABCA1_000463" "g.107651526A>G" "" "" "" "ABCA1(NM_005502.4):c.67-50T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104889245A>G" "" "benign" "" "0000535948" "0" "10" "9" "107651945" "107651945" "subst" "0" "02330" "ABCA1_000464" "g.107651945T>C" "" "" "" "ABCA1(NM_005502.4):c.67-469A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104889664T>C" "" "benign" "" "0000535949" "0" "10" "9" "107665511" "107665511" "subst" "0" "02330" "ABCA1_000465" "g.107665511C>T" "" "" "" "ABCA1(NM_005502.4):c.66+384G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104903230C>T" "" "benign" "" "0000535950" "0" "10" "9" "107665739" "107665739" "subst" "0" "02330" "ABCA1_000466" "g.107665739G>A" "" "" "" "ABCA1(NM_005502.4):c.66+156C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104903458G>A" "" "benign" "" "0000535951" "0" "10" "9" "107665751" "107665751" "subst" "0" "02330" "ABCA1_000467" "g.107665751C>T" "" "" "" "ABCA1(NM_005502.4):c.66+144G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104903470C>T" "" "benign" "" "0000535952" "0" "10" "9" "107665886" "107665886" "subst" "6.61389E-5" "02330" "ABCA1_000468" "g.107665886C>A" "" "" "" "ABCA1(NM_005502.3):c.66+9G>T, ABCA1(NM_005502.4):c.66+9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104903605C>A" "" "benign" "" "0000535953" "0" "30" "9" "107665886" "107665886" "subst" "6.61389E-5" "01943" "ABCA1_000468" "g.107665886C>A" "" "" "" "ABCA1(NM_005502.3):c.66+9G>T, ABCA1(NM_005502.4):c.66+9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104903605C>A" "" "likely benign" "" "0000535954" "0" "30" "9" "107665898" "107665898" "subst" "0" "02330" "ABCA1_000469" "g.107665898T>G" "" "" "" "ABCA1(NM_005502.4):c.63A>C (p.Q21H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104903617T>G" "" "likely benign" "" "0000535955" "0" "10" "9" "107666037" "107666037" "dup" "0" "02330" "ABCA1_000470" "g.107666037dup" "" "" "" "ABCA1(NM_005502.4):c.-76dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104903756dup" "" "benign" "" "0000535956" "0" "10" "9" "107666268" "107666268" "subst" "0" "02330" "ABCA1_000471" "g.107666268A>G" "" "" "" "ABCA1(NM_005502.4):c.-92-216T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104903987A>G" "" "benign" "" "0000535957" "0" "10" "9" "107666345" "107666345" "subst" "0" "02330" "ABCA1_000472" "g.107666345C>T" "" "" "" "ABCA1(NM_005502.4):c.-92-293G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104904064C>T" "" "benign" "" "0000535958" "0" "10" "9" "107666414" "107666414" "subst" "0" "02330" "ABCA1_000473" "g.107666414T>C" "" "" "" "ABCA1(NM_005502.4):c.-92-362A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104904133T>C" "" "benign" "" "0000601050" "11" "70" "9" "107589238" "107589238" "subst" "0.00330329" "00006" "ABCA1_000008" "g.107589238C>G" "" "{PMID:Wong 2019:31617323}, {DOI:Wong 2019:10.1002/mgg3.1007}" "" "" "" "Germline" "" "" "0" "" "" "g.104826957C>G" "" "VUS" "" "0000611761" "0" "50" "9" "107546695" "107546695" "subst" "1.62619E-5" "02330" "ABCA1_000475" "g.107546695G>C" "" "" "" "ABCA1(NM_005502.4):c.6687C>G (p.H2229Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104784414G>C" "" "VUS" "" "0000611762" "0" "30" "9" "107549641" "107549641" "del" "0" "02330" "ABCA1_000477" "g.107549641del" "" "" "" "ABCA1(NM_005502.4):c.6205-374delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104787360del" "" "likely benign" "" "0000611763" "0" "30" "9" "107550194" "107550194" "subst" "0.000304799" "02330" "ABCA1_000478" "g.107550194T>C" "" "" "" "ABCA1(NM_005502.3):c.6204+7A>G, ABCA1(NM_005502.4):c.6204+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104787913T>C" "" "likely benign" "" "0000611764" "0" "50" "9" "107555467" "107555467" "subst" "8.13147E-6" "02330" "ABCA1_000480" "g.107555467A>C" "" "" "" "ABCA1(NM_005502.4):c.5621T>G (p.F1874C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104793186A>C" "" "VUS" "" "0000611765" "0" "30" "9" "107555606" "107555606" "subst" "0.00677128" "02330" "ABCA1_000482" "g.107555606G>A" "" "" "" "ABCA1(NM_005502.4):c.5507-25C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104793325G>A" "" "likely benign" "" "0000611766" "0" "30" "9" "107558354" "107558354" "subst" "2.84775E-5" "02330" "ABCA1_000484" "g.107558354G>A" "" "" "" "ABCA1(NM_005502.4):c.5362C>T (p.L1788=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104796073G>A" "" "likely benign" "" "0000611767" "0" "30" "9" "107558496" "107558496" "subst" "0.000113854" "02330" "ABCA1_000485" "g.107558496G>A" "" "" "" "ABCA1(NM_005502.4):c.5238-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104796215G>A" "" "likely benign" "" "0000611768" "0" "30" "9" "107558691" "107558691" "subst" "8.17708E-6" "02330" "ABCA1_000486" "g.107558691G>A" "" "" "" "ABCA1(NM_005502.4):c.5136C>T (p.V1712=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104796410G>A" "" "likely benign" "" "0000611769" "0" "50" "9" "107560848" "107560848" "subst" "0" "02330" "ABCA1_000489" "g.107560848T>G" "" "" "" "ABCA1(NM_005502.4):c.4975A>C (p.I1659L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104798567T>G" "" "VUS" "" "0000611770" "0" "50" "9" "107564321" "107564321" "subst" "5.28232E-5" "02330" "ABCA1_000491" "g.107564321G>C" "" "" "" "ABCA1(NM_005502.4):c.4698+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104802040G>C" "" "VUS" "" "0000611771" "0" "30" "9" "107566930" "107566930" "subst" "2.43752E-5" "02330" "ABCA1_000495" "g.107566930C>T" "" "" "" "ABCA1(NM_005502.3):c.4536G>A (p.T1512=), ABCA1(NM_005502.4):c.4536G>A (p.T1512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104804649C>T" "" "likely benign" "" "0000611772" "0" "30" "9" "107572119" "107572119" "subst" "0" "02330" "ABCA1_000498" "g.107572119T>G" "" "" "" "ABCA1(NM_005502.4):c.4176-274A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104809838T>G" "" "likely benign" "" "0000611773" "0" "30" "9" "107573173" "107573173" "subst" "4.06098E-6" "02330" "ABCA1_000499" "g.107573173G>C" "" "" "" "ABCA1(NM_005502.4):c.4083C>G (p.A1361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104810892G>C" "" "likely benign" "" "0000611774" "0" "30" "9" "107574847" "107574847" "subst" "8.12374E-6" "02330" "ABCA1_000500" "g.107574847C>T" "" "" "" "ABCA1(NM_005502.4):c.4050+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104812566C>T" "" "likely benign" "" "0000611775" "0" "30" "9" "107576120" "107576120" "subst" "0" "02330" "ABCA1_000501" "g.107576120A>G" "" "" "" "ABCA1(NM_005502.4):c.3901+279T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104813839A>G" "" "likely benign" "" "0000611776" "0" "30" "9" "107576739" "107576739" "subst" "1.62446E-5" "02330" "ABCA1_000503" "g.107576739G>C" "" "" "" "ABCA1(NM_005502.4):c.3756C>G (p.A1252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104814458G>C" "" "likely benign" "" "0000611777" "0" "30" "9" "107578059" "107578059" "subst" "0" "02330" "ABCA1_000505" "g.107578059A>T" "" "" "" "ABCA1(NM_005502.4):c.3738+365T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104815778A>T" "" "likely benign" "" "0000611778" "0" "30" "9" "107579472" "107579472" "subst" "0" "02330" "ABCA1_000507" "g.107579472A>C" "" "" "" "ABCA1(NM_005502.4):c.3535+141T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104817191A>C" "" "likely benign" "" "0000611779" "0" "30" "9" "107580463" "107580464" "del" "0" "02330" "ABCA1_000508" "g.107580463_107580464del" "" "" "" "ABCA1(NM_005502.4):c.3462+492_3462+493delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104818182_104818183del" "" "likely benign" "" "0000611780" "0" "30" "9" "107582305" "107582305" "subst" "0" "02330" "ABCA1_000512" "g.107582305C>T" "" "" "" "ABCA1(NM_005502.4):c.3006G>A (p.G1002=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104820024C>T" "" "likely benign" "" "0000611781" "0" "50" "9" "107583722" "107583722" "subst" "4.06147E-6" "02330" "ABCA1_000514" "g.107583722C>T" "" "" "" "ABCA1(NM_005502.4):c.2894G>A (p.R965H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104821441C>T" "" "VUS" "" "0000611782" "0" "50" "9" "107588128" "107588128" "subst" "0" "02330" "ABCA1_000518" "g.107588128T>C" "" "" "" "ABCA1(NM_005502.4):c.2378A>G (p.Y793C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104825847T>C" "" "VUS" "" "0000611783" "0" "30" "9" "107588182" "107588182" "subst" "0" "02330" "ABCA1_000519" "g.107588182G>T" "" "" "" "ABCA1(NM_005502.4):c.2338-14C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104825901G>T" "" "likely benign" "" "0000611784" "0" "30" "9" "107589232" "107589232" "subst" "8.16573E-6" "02330" "ABCA1_000520" "g.107589232G>A" "" "" "" "ABCA1(NM_005502.4):c.2334C>T (p.F778=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104826951G>A" "" "likely benign" "" "0000611785" "0" "30" "9" "107593243" "107593243" "subst" "0" "02330" "ABCA1_000525" "g.107593243T>C" "" "" "" "ABCA1(NM_005502.4):c.1855A>G (p.M619V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104830962T>C" "" "likely benign" "" "0000611786" "0" "30" "9" "107593334" "107593334" "subst" "2.43683E-5" "02330" "ABCA1_000526" "g.107593334G>A" "" "" "" "ABCA1(NM_005502.4):c.1764C>T (p.Y588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104831053G>A" "" "likely benign" "" "0000611787" "0" "90" "9" "107593949" "107593949" "subst" "4.06217E-6" "02330" "ABCA1_000527" "g.107593949G>A" "" "" "" "ABCA1(NM_005502.4):c.1669C>T (p.R557*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104831668G>A" "" "pathogenic" "" "0000611788" "0" "70" "9" "107595053" "107595053" "subst" "0" "02330" "ABCA1_000529" "g.107595053C>T" "" "" "" "ABCA1(NM_005502.4):c.1312-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104832772C>T" "" "likely pathogenic" "" "0000611789" "0" "30" "9" "107599242" "107599242" "subst" "4.06108E-6" "02330" "ABCA1_000532" "g.107599242T>A" "" "" "" "ABCA1(NM_005502.4):c.1311+19A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104836961T>A" "" "likely benign" "" "0000611790" "0" "10" "9" "107600251" "107600251" "subst" "0" "02330" "ABCA1_000533" "g.107600251T>C" "" "" "" "ABCA1(NM_005502.4):c.1055-403A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104837970T>C" "" "benign" "" "0000611791" "0" "50" "9" "107602759" "107602759" "subst" "0" "02330" "ABCA1_000535" "g.107602759C>T" "" "" "" "ABCA1(NM_005502.4):c.855G>A (p.V285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104840478C>T" "" "VUS" "" "0000611792" "0" "30" "9" "107620920" "107620920" "subst" "0" "02330" "ABCA1_000537" "g.107620920T>A" "" "" "" "ABCA1(NM_005502.4):c.603A>T (p.E201D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104858639T>A" "" "likely benign" "" "0000611793" "0" "30" "9" "107651030" "107651030" "subst" "0" "02330" "ABCA1_000545" "g.107651030G>T" "" "" "" "ABCA1(NM_005502.4):c.160+353C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104888749G>T" "" "likely benign" "" "0000611794" "0" "30" "9" "107651357" "107651357" "subst" "0.0150413" "02330" "ABCA1_000546" "g.107651357C>T" "" "" "" "ABCA1(NM_005502.4):c.160+26G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104889076C>T" "" "likely benign" "" "0000611795" "0" "30" "9" "107665871" "107665871" "subst" "0.00021229" "02330" "ABCA1_000547" "g.107665871C>A" "" "" "" "ABCA1(NM_005502.4):c.66+24G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104903590C>A" "" "likely benign" "" "0000622105" "0" "30" "9" "107546289" "107546290" "del" "0" "02330" "ABCA1_000474" "g.107546289_107546290del" "" "" "" "ABCA1(NM_005502.4):c.*320_*321delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104784008_104784009del" "" "likely benign" "" "0000622106" "0" "10" "9" "107547767" "107547767" "subst" "0.000207503" "02330" "ABCA1_000476" "g.107547767A>C" "" "" "" "ABCA1(NM_005502.4):c.6555T>G (p.S2185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104785486A>C" "" "benign" "" "0000622107" "0" "30" "9" "107550696" "107550696" "subst" "0" "02330" "ABCA1_000479" "g.107550696G>A" "" "" "" "ABCA1(NM_005502.4):c.6069+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104788415G>A" "" "likely benign" "" "0000622108" "0" "50" "9" "107555573" "107555573" "subst" "1.22002E-5" "02330" "ABCA1_000481" "g.107555573G>A" "" "" "" "ABCA1(NM_005502.4):c.5515C>T (p.R1839C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104793292G>A" "" "VUS" "" "0000622109" "0" "10" "9" "107556349" "107556349" "subst" "0" "02330" "ABCA1_000483" "g.107556349T>C" "" "" "" "ABCA1(NM_005502.4):c.5506+319A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104794068T>C" "" "benign" "" "0000622110" "0" "50" "9" "107560713" "107560713" "subst" "0" "02330" "ABCA1_000487" "g.107560713C>T" "" "" "" "ABCA1(NM_005502.4):c.5110G>A (p.V1704I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104798432C>T" "" "VUS" "" "0000622111" "0" "30" "9" "107560822" "107560822" "subst" "2.03145E-5" "02330" "ABCA1_000488" "g.107560822G>A" "" "" "" "ABCA1(NM_005502.4):c.5001C>T (p.F1667=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104798541G>A" "" "likely benign" "" "0000622112" "0" "30" "9" "107561716" "107561717" "del" "0" "02330" "ABCA1_000490" "g.107561716_107561717del" "" "" "" "ABCA1(NM_005502.4):c.4943+423_4943+424delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104799435_104799436del" "" "likely benign" "" "0000622113" "0" "30" "9" "107564447" "107564447" "subst" "2.84481E-5" "02330" "ABCA1_000492" "g.107564447G>T" "" "" "" "ABCA1(NM_005502.4):c.4593-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104802166G>T" "" "likely benign" "" "0000622114" "0" "10" "9" "107564676" "107564676" "subst" "0" "02330" "ABCA1_000493" "g.107564676T>C" "" "" "" "ABCA1(NM_005502.4):c.4593-236A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104802395T>C" "" "benign" "" "0000622115" "0" "10" "9" "107564839" "107564839" "subst" "0" "02330" "ABCA1_000494" "g.107564839C>T" "" "" "" "ABCA1(NM_005502.4):c.4593-399G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104802558C>T" "" "benign" "" "0000622116" "0" "30" "9" "107571565" "107571565" "subst" "0" "02330" "ABCA1_000496" "g.107571565G>A" "" "" "" "ABCA1(NM_005502.4):c.4274+182C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104809284G>A" "" "likely benign" "" "0000622117" "0" "50" "9" "107571825" "107571825" "subst" "1.62501E-5" "02330" "ABCA1_000497" "g.107571825G>A" "" "" "" "ABCA1(NM_005502.4):c.4196C>T (p.T1399M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104809544G>A" "" "VUS" "" "0000622118" "0" "30" "9" "107576408" "107576408" "subst" "2.43744E-5" "02330" "ABCA1_000502" "g.107576408T>A" "" "" "" "ABCA1(NM_005502.4):c.3892A>T (p.I1298L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104814127T>A" "" "likely benign" "" "0000622119" "0" "10" "9" "107578048" "107578048" "subst" "0" "02330" "ABCA1_000504" "g.107578048C>G" "" "" "" "ABCA1(NM_005502.4):c.3738+376G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104815767C>G" "" "benign" "" "0000622120" "0" "30" "9" "107578595" "107578595" "subst" "2.84255E-5" "02330" "ABCA1_000506" "g.107578595C>T" "" "" "" "ABCA1(NM_005502.4):c.3567G>A (p.K1189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104816314C>T" "" "likely benign" "" "0000622121" "0" "10" "9" "107580480" "107580480" "subst" "0" "02330" "ABCA1_000509" "g.107580480C>T" "" "" "" "ABCA1(NM_005502.4):c.3462+464G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104818199C>T" "" "benign" "" "0000622122" "0" "30" "9" "107580937" "107580937" "subst" "0" "02330" "ABCA1_000510" "g.107580937A>T" "" "" "" "ABCA1(NM_005502.4):c.3462+7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104818656A>T" "" "likely benign" "" "0000622123" "0" "30" "9" "107580995" "107580995" "subst" "0" "02330" "ABCA1_000511" "g.107580995G>A" "" "" "" "ABCA1(NM_005502.4):c.3411C>T (p.S1137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104818714G>A" "" "likely benign" "" "0000622124" "0" "30" "9" "107581904" "107581904" "subst" "0.00134416" "01943" "ABCA1_000205" "g.107581904G>A" "" "" "" "ABCA1(NM_005502.3):c.3204C>T (p.R1068=), ABCA1(NM_005502.4):c.3204C>T (p.R1068=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104819623G>A" "" "likely benign" "" "0000622125" "0" "30" "9" "107582675" "107582675" "subst" "0" "02330" "ABCA1_000513" "g.107582675C>T" "" "" "" "ABCA1(NM_005502.4):c.2961-325G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104820394C>T" "" "likely benign" "" "0000622126" "0" "30" "9" "107583775" "107583775" "subst" "2.84456E-5" "02330" "ABCA1_000515" "g.107583775G>A" "" "" "" "ABCA1(NM_005502.4):c.2841C>T (p.T947=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104821494G>A" "" "likely benign" "" "0000622127" "0" "10" "9" "107584309" "107584309" "subst" "0" "02330" "ABCA1_000516" "g.107584309T>C" "" "" "" "ABCA1(NM_005502.4):c.2828+468A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104822028T>C" "" "benign" "" "0000622128" "0" "10" "9" "107585213" "107585213" "subst" "0" "02330" "ABCA1_000517" "g.107585213C>T" "" "" "" "ABCA1(NM_005502.4):c.2657-265G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104822932C>T" "" "benign" "" "0000622129" "0" "10" "9" "107589947" "107589947" "subst" "0" "02330" "ABCA1_000521" "g.107589947G>C" "" "" "" "ABCA1(NM_005502.4):c.2116-497C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104827666G>C" "" "benign" "" "0000622130" "0" "30" "9" "107590883" "107590883" "subst" "0" "02330" "ABCA1_000522" "g.107590883T>C" "" "" "" "ABCA1(NM_005502.4):c.2115+314A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104828602T>C" "" "likely benign" "" "0000622131" "0" "30" "9" "107591398" "107591398" "subst" "0" "02330" "ABCA1_000523" "g.107591398C>T" "" "" "" "ABCA1(NM_005502.4):c.1914G>A (p.R638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104829117C>T" "" "likely benign" "" "0000622132" "0" "30" "9" "107591433" "107591433" "subst" "4.08037E-6" "02330" "ABCA1_000524" "g.107591433G>A" "" "" "" "ABCA1(NM_005502.4):c.1893-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104829152G>A" "" "likely benign" "" "0000622133" "0" "50" "9" "107594698" "107594698" "subst" "0" "02330" "ABCA1_000528" "g.107594698G>A" "" "" "" "ABCA1(NM_005502.4):c.1509+157C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104832417G>A" "" "VUS" "" "0000622134" "0" "10" "9" "107595210" "107595210" "subst" "0" "02330" "ABCA1_000530" "g.107595210G>A" "" "" "" "ABCA1(NM_005502.4):c.1312-158C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104832929G>A" "" "benign" "" "0000622135" "0" "10" "9" "107598740" "107598740" "subst" "0" "02330" "ABCA1_000531" "g.107598740C>T" "" "" "" "ABCA1(NM_005502.4):c.1311+521G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104836459C>T" "" "benign" "" "0000622136" "0" "30" "9" "107602732" "107602732" "subst" "4.06098E-6" "02330" "ABCA1_000534" "g.107602732G>A" "" "" "" "ABCA1(NM_005502.4):c.882C>T (p.S294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104840451G>A" "" "likely benign" "" "0000622137" "0" "30" "9" "107607860" "107607860" "del" "0.000200475" "02330" "ABCA1_000536" "g.107607860del" "" "" "" "ABCA1(NM_005502.4):c.721-10delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104845579del" "" "likely benign" "" "0000622138" "0" "30" "9" "107624007" "107624007" "subst" "0" "02330" "ABCA1_000538" "g.107624007T>C" "" "" "" "ABCA1(NM_005502.4):c.496A>G (p.K166E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104861726T>C" "" "likely benign" "" "0000622139" "0" "10" "9" "107624242" "107624242" "subst" "0" "02330" "ABCA1_000539" "g.107624242A>G" "" "" "" "ABCA1(NM_005502.4):c.422-161T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104861961A>G" "" "benign" "" "0000622140" "0" "10" "9" "107624358" "107624363" "del" "0" "02330" "ABCA1_000540" "g.107624358_107624363del" "" "" "" "ABCA1(NM_005502.4):c.422-277_422-272delATGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104862077_104862082del" "" "benign" "" "0000622141" "0" "30" "9" "107624358" "107624365" "del" "0" "02330" "ABCA1_000541" "g.107624358_107624365del" "" "" "" "ABCA1(NM_005502.4):c.422-277_422-270delATGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104862077_104862084del" "" "likely benign" "" "0000622142" "0" "50" "9" "107646711" "107646711" "subst" "4.06121E-6" "02330" "ABCA1_000542" "g.107646711G>C" "" "" "" "ABCA1(NM_005502.4):c.299C>G (p.S100C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104884430G>C" "" "VUS" "" "0000622143" "0" "10" "9" "107650843" "107650843" "subst" "0" "02330" "ABCA1_000543" "g.107650843C>T" "" "" "" "ABCA1(NM_005502.4):c.160+540G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104888562C>T" "" "benign" "" "0000622144" "0" "30" "9" "107650992" "107650992" "subst" "0" "02330" "ABCA1_000544" "g.107650992G>A" "" "" "" "ABCA1(NM_005502.4):c.160+391C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104888711G>A" "" "likely benign" "" "0000652563" "1" "30" "9" "107560803" "107560803" "subst" "0.00057297" "03575" "ABCA1_000024" "g.107560803C>T" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs138422574}" "Germline" "" "rs138422574" "0" "" "" "g.104798522C>T" "" "likely benign" "" "0000652564" "1" "30" "9" "107566930" "107566930" "subst" "0.0141092" "03575" "ABCA1_000183" "g.107566930C>A" "25/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "25 heterozygous, no homozygous; {DB:CLININrs41277763}" "Germline" "" "rs41277763" "0" "" "" "g.104804649C>A" "" "likely benign" "" "0000652565" "1" "10" "9" "107620835" "107620835" "subst" "0.0127504" "03575" "ABCA1_000429" "g.107620835G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs9282541}" "Germline" "" "rs9282541" "0" "" "" "g.104858554G>A" "" "benign" "" "0000656170" "0" "30" "9" "107546752" "107546752" "subst" "1.22187E-5" "02330" "ABCA1_000548" "g.107546752G>C" "" "" "" "ABCA1(NM_005502.4):c.6646-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104784471G>C" "" "likely benign" "" "0000656171" "0" "30" "9" "107547273" "107547273" "subst" "0" "02330" "ABCA1_000549" "g.107547273C>T" "" "" "" "ABCA1(NM_005502.4):c.6645+404G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104784992C>T" "" "likely benign" "" "0000656172" "0" "30" "9" "107547881" "107547881" "subst" "0" "02330" "ABCA1_000550" "g.107547881C>T" "" "" "" "ABCA1(NM_005502.4):c.6441G>A (p.G2147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104785600C>T" "" "likely benign" "" "0000656173" "0" "30" "9" "107549303" "107549303" "del" "0" "02330" "ABCA1_000551" "g.107549303del" "" "" "" "ABCA1(NM_005502.4):c.6205-39delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104787022del" "" "likely benign" "" "0000656174" "0" "30" "9" "107550194" "107550194" "subst" "0.000304799" "01943" "ABCA1_000478" "g.107550194T>C" "" "" "" "ABCA1(NM_005502.3):c.6204+7A>G, ABCA1(NM_005502.4):c.6204+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104787913T>C" "" "likely benign" "" "0000656175" "0" "70" "9" "107550253" "107550253" "subst" "0" "02330" "ABCA1_000552" "g.107550253C>G" "" "" "" "ABCA1(NM_005502.4):c.6152G>C (p.R2051P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104787972C>G" "" "likely pathogenic" "" "0000656176" "0" "30" "9" "107556810" "107556811" "ins" "0" "02330" "ABCA1_000553" "g.107556810_107556811insGAA" "" "" "" "ABCA1(NM_005502.4):c.5383-18_5383-17insCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104794529_104794530insGAA" "" "likely benign" "" "0000656177" "0" "70" "9" "107562145" "107562145" "subst" "8.12367E-6" "02330" "ABCA1_000554" "g.107562145T>C" "" "" "" "ABCA1(NM_005502.4):c.4898A>G (p.N1633S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104799864T>C" "" "likely pathogenic" "" "0000656178" "0" "30" "9" "107568585" "107568585" "subst" "2.03105E-5" "02330" "ABCA1_000555" "g.107568585G>A" "" "" "" "ABCA1(NM_005502.4):c.4401C>T (p.S1467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104806304G>A" "" "likely benign" "" "0000656179" "0" "50" "9" "107571791" "107571791" "subst" "0" "02330" "ABCA1_000556" "g.107571791T>G" "" "" "" "ABCA1(NM_005502.4):c.4230A>C (p.K1410N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104809510T>G" "" "VUS" "" "0000656180" "0" "50" "9" "107571845" "107571845" "subst" "8.12724E-6" "02330" "ABCA1_000557" "g.107571845G>A" "" "" "" "ABCA1(NM_005502.4):c.4176C>T (p.S1392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104809564G>A" "" "VUS" "" "0000656181" "0" "50" "9" "107578507" "107578507" "subst" "0" "02325" "ABCA1_000558" "g.107578507C>A" "" "" "" "ABCA1(NM_005502.4):c.3655G>T (p.V1219L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104816226C>A" "" "VUS" "" "0000656182" "0" "50" "9" "107578579" "107578579" "subst" "2.03034E-5" "02330" "ABCA1_000559" "g.107578579G>A" "" "" "" "ABCA1(NM_005502.4):c.3583C>T (p.R1195W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104816298G>A" "" "VUS" "" "0000656183" "0" "70" "9" "107579687" "107579687" "subst" "0" "02330" "ABCA1_000560" "g.107579687T>C" "" "" "" "ABCA1(NM_005502.4):c.3463-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104817406T>C" "" "likely pathogenic" "" "0000656184" "0" "30" "9" "107586791" "107586791" "subst" "0" "02330" "ABCA1_000561" "g.107586791C>A" "" "" "" "ABCA1(NM_005502.4):c.2611G>T (p.D871Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104824510C>A" "" "likely benign" "" "0000656185" "0" "70" "9" "107586851" "107586851" "subst" "8.12453E-6" "02330" "ABCA1_000562" "g.107586851C>T" "" "" "" "ABCA1(NM_005502.4):c.2551G>A (p.G851R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104824570C>T" "" "likely pathogenic" "" "0000656186" "0" "50" "9" "107593300" "107593300" "subst" "4.06121E-6" "02330" "ABCA1_000563" "g.107593300C>T" "" "" "" "ABCA1(NM_005502.4):c.1798G>A (p.V600M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104831019C>T" "" "VUS" "" "0000656187" "0" "50" "9" "107599534" "107599534" "subst" "0" "02330" "ABCA1_000564" "g.107599534C>T" "" "" "" "ABCA1(NM_005502.4):c.1195-157G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104837253C>T" "" "VUS" "" "0000656188" "0" "30" "9" "107599765" "107599765" "subst" "4.46798E-5" "02330" "ABCA1_000565" "g.107599765C>T" "" "" "" "ABCA1(NM_005502.4):c.1138G>A (p.V380I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104837484C>T" "" "likely benign" "" "0000656189" "0" "30" "9" "107620596" "107620596" "subst" "0" "02330" "ABCA1_000566" "g.107620596G>A" "" "" "" "ABCA1(NM_005502.4):c.720+207C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104858315G>A" "" "likely benign" "" "0000656190" "0" "30" "9" "107646644" "107646644" "subst" "0" "02330" "ABCA1_000567" "g.107646644G>A" "" "" "" "ABCA1(NM_005502.4):c.302+64C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104884363G>A" "" "likely benign" "" "0000678473" "0" "10" "9" "107546290" "107546290" "dup" "0" "02330" "ABCA1_000568" "g.107546290dup" "" "" "" "ABCA1(NM_005502.4):c.*321dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000678474" "0" "30" "9" "107549144" "107549144" "subst" "0" "02330" "ABCA1_000569" "g.107549144T>C" "" "" "" "ABCA1(NM_005502.4):c.6308+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678475" "0" "10" "9" "107552695" "107552695" "subst" "0" "02330" "ABCA1_000570" "g.107552695G>A" "" "" "" "ABCA1(NM_005502.4):c.5927+508C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000678476" "0" "30" "9" "107561169" "107561169" "del" "0" "02330" "ABCA1_000571" "g.107561169del" "" "" "" "ABCA1(NM_005502.4):c.4944-290delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678477" "0" "30" "9" "107561708" "107561717" "del" "0" "02330" "ABCA1_000572" "g.107561708_107561717del" "" "" "" "ABCA1(NM_005502.4):c.4943+415_4943+424delTGTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678478" "0" "70" "9" "107562095" "107562095" "subst" "0" "02330" "ABCA1_000573" "g.107562095C>T" "" "" "" "ABCA1(NM_005502.4):c.4943+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000678479" "0" "30" "9" "107562135" "107562135" "subst" "4.06187E-6" "02330" "ABCA1_000574" "g.107562135C>T" "" "" "" "ABCA1(NM_005502.4):c.4908G>A (p.L1636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678480" "0" "10" "9" "107563880" "107563880" "subst" "0" "02330" "ABCA1_000575" "g.107563880C>T" "" "" "" "ABCA1(NM_005502.4):c.4698+455G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000678481" "0" "30" "9" "107568703" "107568703" "subst" "4.06511E-6" "02330" "ABCA1_000576" "g.107568703G>A" "" "" "" "ABCA1(NM_005502.4):c.4283C>T (p.P1428L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678482" "0" "50" "9" "107574883" "107574883" "subst" "0.000174608" "02330" "ABCA1_000577" "g.107574883C>G" "" "" "" "ABCA1(NM_005502.4):c.4022G>C (p.R1341T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678483" "0" "70" "9" "107578437" "107578437" "subst" "2.03037E-5" "02330" "ABCA1_000578" "g.107578437G>A" "" "" "" "ABCA1(NM_005502.4):c.3725C>T (p.T1242M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000678484" "0" "10" "9" "107584351" "107584351" "subst" "0" "02330" "ABCA1_000579" "g.107584351T>C" "" "" "" "ABCA1(NM_005502.4):c.2828+426A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000678485" "0" "30" "9" "107589234" "107589234" "subst" "0" "02330" "ABCA1_000580" "g.107589234A>G" "" "" "" "ABCA1(NM_005502.4):c.2332T>C (p.F778L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678486" "0" "30" "9" "107589246" "107589246" "subst" "0.00206159" "01943" "ABCA1_000009" "g.107589246T>G" "" "" "" "ABCA1(NM_005502.3):c.2320A>C (p.T774P), ABCA1(NM_005502.4):c.2320A>C (p.T774P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678487" "0" "70" "9" "107591250" "107591257" "del" "0" "02330" "ABCA1_000581" "g.107591250_107591257del" "" "" "" "ABCA1(NM_005502.4):c.2057_2064delTCATTAGT (p.F686*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000678488" "0" "30" "9" "107591371" "107591371" "subst" "0" "01943" "ABCA1_000582" "g.107591371G>T" "" "" "" "ABCA1(NM_005502.3):c.1941C>A (p.A647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678489" "0" "30" "9" "107593264" "107593264" "subst" "8.12163E-6" "02330" "ABCA1_000583" "g.107593264C>T" "" "" "" "ABCA1(NM_005502.4):c.1834G>A (p.E612K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678490" "0" "50" "9" "107593270" "107593270" "subst" "0" "01943" "ABCA1_000584" "g.107593270C>T" "" "" "" "ABCA1(NM_005502.3):c.1828G>A (p.G610S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678491" "0" "30" "9" "107594972" "107594972" "subst" "0" "02330" "ABCA1_000585" "g.107594972C>A" "" "" "" "ABCA1(NM_005502.4):c.1392G>T (p.V464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678492" "0" "30" "9" "107594987" "107594987" "subst" "0.000361404" "02330" "ABCA1_000586" "g.107594987T>G" "" "" "" "ABCA1(NM_005502.4):c.1377A>C (p.T459=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678493" "0" "50" "9" "107607784" "107607784" "subst" "1.62522E-5" "02330" "ABCA1_000587" "g.107607784G>C" "" "" "" "ABCA1(NM_005502.4):c.787C>G (p.H263D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678494" "0" "30" "9" "107607808" "107607808" "subst" "4.06306E-6" "02330" "ABCA1_000588" "g.107607808C>T" "" "" "" "ABCA1(NM_005502.4):c.763G>A (p.A255T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678495" "0" "50" "9" "107607818" "107607818" "subst" "0" "02330" "ABCA1_000589" "g.107607818G>C" "" "" "" "ABCA1(NM_005502.4):c.753C>G (p.S251R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678496" "0" "30" "9" "107645922" "107645922" "subst" "0" "02330" "ABCA1_000590" "g.107645922T>C" "" "" "" "ABCA1(NM_005502.4):c.303-484A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678497" "0" "30" "9" "107646776" "107646776" "subst" "0" "02330" "ABCA1_000591" "g.107646776G>A" "" "" "" "ABCA1(NM_005502.4):c.234C>T (p.N78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690346" "0" "30" "9" "107558370" "107558370" "subst" "1.22041E-5" "02330" "ABCA1_000592" "g.107558370G>A" "" "" "" "ABCA1(NM_005502.4):c.5346C>T (p.S1782=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690347" "0" "50" "9" "107558612" "107558612" "subst" "0" "02330" "ABCA1_000593" "g.107558612C>T" "" "" "" "ABCA1(NM_005502.4):c.5215G>A (p.A1739T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690348" "0" "30" "9" "107561714" "107561717" "dup" "0" "02330" "ABCA1_000594" "g.107561714_107561717dup" "" "" "" "ABCA1(NM_005502.4):c.4943+421_4943+424dupTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690349" "0" "10" "9" "107571208" "107571208" "subst" "0" "02330" "ABCA1_000595" "g.107571208G>A" "" "" "" "ABCA1(NM_005502.4):c.4274+539C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690350" "0" "10" "9" "107571241" "107571241" "subst" "0" "02330" "ABCA1_000596" "g.107571241C>T" "" "" "" "ABCA1(NM_005502.4):c.4274+506G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690351" "0" "30" "9" "107576698" "107576698" "subst" "8.12222E-6" "02330" "ABCA1_000597" "g.107576698A>C" "" "" "" "ABCA1(NM_005502.4):c.3787+10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690352" "0" "50" "9" "107578620" "107578620" "subst" "0.00136471" "01943" "ABCA1_000046" "g.107578620G>A" "" "" "" "ABCA1(NM_005502.3):c.3542C>T (p.S1181F), ABCA1(NM_005502.4):c.3542C>T (p.S1181F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690353" "0" "30" "9" "107578908" "107578915" "dup" "0" "02330" "ABCA1_000598" "g.107578908_107578915dup" "" "" "" "ABCA1(NM_005502.4):c.3536-277_3536-270dupCCTCCCAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690354" "0" "30" "9" "107579641" "107579641" "subst" "1.21836E-5" "02330" "ABCA1_000599" "g.107579641G>A" "" "" "" "ABCA1(NM_005502.4):c.3507C>T (p.S1169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690355" "0" "30" "9" "107579666" "107579666" "subst" "4.06147E-6" "02330" "ABCA1_000600" "g.107579666C>T" "" "" "" "ABCA1(NM_005502.4):c.3482G>A (p.S1161N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690356" "0" "30" "9" "107584794" "107584794" "subst" "7.31059E-5" "02330" "ABCA1_000601" "g.107584794C>T" "" "" "" "ABCA1(NM_005502.4):c.2811G>A (p.A937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690357" "0" "30" "9" "107586739" "107586739" "subst" "0" "02330" "ABCA1_000602" "g.107586739C>A" "" "" "" "ABCA1(NM_005502.4):c.2656+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690358" "0" "50" "9" "107588401" "107588401" "subst" "0" "02330" "ABCA1_000603" "g.107588401T>C" "" "" "" "ABCA1(NM_005502.4):c.2338-233A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690359" "0" "50" "9" "107589231" "107589231" "subst" "4.49291E-5" "02330" "ABCA1_000604" "g.107589231C>T" "" "" "" "ABCA1(NM_005502.4):c.2335G>A (p.A779T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690360" "0" "30" "9" "107594993" "107594993" "subst" "1.62437E-5" "01943" "ABCA1_000605" "g.107594993A>G" "" "" "" "ABCA1(NM_005502.3):c.1371T>C (p.D457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690361" "0" "70" "9" "107620844" "107620844" "subst" "4.06075E-6" "02330" "ABCA1_000606" "g.107620844G>A" "" "" "" "ABCA1(NM_005502.4):c.679C>T (p.R227*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690362" "0" "30" "9" "107620985" "107620985" "subst" "0" "02330" "ABCA1_000607" "g.107620985A>G" "" "" "" "ABCA1(NM_005502.4):c.544-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690363" "0" "30" "9" "107624095" "107624095" "subst" "0" "02330" "ABCA1_000608" "g.107624095G>A" "" "" "" "ABCA1(NM_005502.4):c.422-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698842" "0" "50" "9" "107556776" "107556776" "subst" "0.000291849" "01602" "ABCA1_000020" "g.107556776T>G" "" "{PMID:Neubauer 2021:33895855}" "" "" "" "Unknown" "" "" "" "" "" "" "" "VUS" "" "0000722146" "0" "30" "9" "107546288" "107546290" "del" "0" "02330" "ABCA1_000609" "g.107546288_107546290del" "" "" "" "ABCA1(NM_005502.4):c.*319_*321delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722147" "0" "50" "9" "107546634" "107546638" "del" "0" "02325" "ABCA1_000061" "g.107546634_107546638del" "" "" "" "ABCA1(NM_005502.4):c.6744_6748delATCTT (p.F2250Tfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722148" "0" "30" "9" "107547794" "107547794" "subst" "0" "02330" "ABCA1_000610" "g.107547794T>C" "" "" "" "ABCA1(NM_005502.4):c.6528A>G (p.L2176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722149" "0" "30" "9" "107547937" "107547937" "dup" "0" "02330" "ABCA1_000611" "g.107547937dup" "" "" "" "ABCA1(NM_005502.4):c.6402-12dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722150" "0" "50" "9" "107550215" "107550215" "subst" "0" "02330" "ABCA1_000612" "g.107550215G>A" "" "" "" "ABCA1(NM_005502.4):c.6190C>T (p.P2064S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722151" "0" "50" "9" "107550773" "107550773" "subst" "0" "02330" "ABCA1_000613" "g.107550773C>G" "" "" "" "ABCA1(NM_005502.4):c.6003G>C (p.L2001F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722152" "0" "10" "9" "107554828" "107554828" "subst" "0" "02330" "ABCA1_000614" "g.107554828T>G" "" "" "" "ABCA1(NM_005502.4):c.5757+239A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722153" "0" "50" "9" "107555077" "107555077" "subst" "0.000447311" "02330" "ABCA1_000615" "g.107555077T>G" "" "" "" "ABCA1(NM_005502.4):c.5747A>C (p.E1916A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722154" "0" "10" "9" "107555306" "107555306" "subst" "0" "02330" "ABCA1_000616" "g.107555306G>A" "" "" "" "ABCA1(NM_005502.4):c.5637-119C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722155" "0" "30" "9" "107556758" "107556758" "subst" "1.6358E-5" "02330" "ABCA1_000617" "g.107556758C>T" "" "" "" "ABCA1(NM_005502.4):c.5416G>A (p.V1806M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722156" "0" "50" "9" "107557969" "107557969" "subst" "0" "02330" "ABCA1_000618" "g.107557969T>C" "" "" "" "ABCA1(NM_005502.4):c.5382+365A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722157" "0" "30" "9" "107558339" "107558339" "subst" "2.03454E-5" "02330" "ABCA1_000619" "g.107558339C>T" "" "" "" "ABCA1(NM_005502.4):c.5377G>A (p.D1793N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722158" "0" "30" "9" "107558452" "107558452" "subst" "0" "02330" "ABCA1_000620" "g.107558452G>A" "" "" "" "ABCA1(NM_005502.4):c.5264C>T (p.P1755L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722159" "0" "30" "9" "107560895" "107560895" "subst" "6.18623E-5" "02330" "ABCA1_000621" "g.107560895G>A" "" "" "" "ABCA1(NM_005502.4):c.4944-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722160" "0" "10" "9" "107561710" "107561717" "dup" "0" "02330" "ABCA1_000622" "g.107561710_107561717dup" "" "" "" "ABCA1(NM_005502.4):c.4943+417_4943+424dupTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722161" "0" "30" "9" "107563407" "107563409" "dup" "0" "02330" "ABCA1_000623" "g.107563407_107563409dup" "" "" "" "ABCA1(NM_005502.4):c.4699-535_4699-533dupTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722162" "0" "50" "9" "107566902" "107566902" "subst" "7.31339E-5" "02330" "ABCA1_000624" "g.107566902G>T" "" "" "" "ABCA1(NM_005502.4):c.4559+5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722163" "0" "90" "9" "107566916" "107566917" "del" "0" "02330" "ABCA1_000625" "g.107566916_107566917del" "" "" "" "ABCA1(NM_005502.4):c.4550_4551delTA (p.I1517Sfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722164" "0" "30" "9" "107568396" "107568396" "dup" "0" "02330" "ABCA1_000626" "g.107568396dup" "" "" "" "ABCA1(NM_005502.4):c.4464+134dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722165" "0" "30" "9" "107571531" "107571531" "subst" "0" "02330" "ABCA1_000627" "g.107571531C>T" "" "" "" "ABCA1(NM_005502.4):c.4274+216G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722166" "0" "30" "9" "107573101" "107573101" "subst" "8.1215E-5" "01943" "ABCA1_000190" "g.107573101G>A" "" "" "" "ABCA1(NM_005502.3):c.4155C>T (p.N1385=), ABCA1(NM_005502.4):c.4155C>T (p.N1385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722167" "0" "30" "9" "107573319" "107573319" "subst" "0" "02330" "ABCA1_000628" "g.107573319G>A" "" "" "" "ABCA1(NM_005502.4):c.4051-114C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722168" "0" "30" "9" "107574906" "107574906" "subst" "0.000170549" "02330" "ABCA1_000629" "g.107574906C>T" "" "" "" "ABCA1(NM_005502.4):c.3999G>A (p.L1333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722169" "0" "10" "9" "107579880" "107579880" "subst" "0" "02330" "ABCA1_000630" "g.107579880C>T" "" "" "" "ABCA1(NM_005502.4):c.3463-195G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722170" "0" "30" "9" "107582200" "107582200" "subst" "2.85488E-5" "01943" "ABCA1_000631" "g.107582200G>C" "" "" "" "ABCA1(NM_005502.3):c.3103+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722171" "0" "50" "9" "107582340" "107582340" "subst" "1.21881E-5" "02330" "ABCA1_000632" "g.107582340C>T" "" "" "" "ABCA1(NM_005502.4):c.2971G>A (p.E991K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722172" "0" "90" "9" "107584801" "107584801" "subst" "8.12183E-6" "02330" "ABCA1_000633" "g.107584801T>C" "" "" "" "ABCA1(NM_005502.4):c.2804A>G (p.N935S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722173" "0" "30" "9" "107584875" "107584875" "subst" "0.000324855" "02330" "ABCA1_000634" "g.107584875A>G" "" "" "" "ABCA1(NM_005502.4):c.2730T>C (p.D910=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722174" "0" "30" "9" "107586819" "107586819" "subst" "0" "02330" "ABCA1_000635" "g.107586819G>A" "" "" "" "ABCA1(NM_005502.4):c.2583C>T (p.T861=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722175" "0" "30" "9" "107587673" "107587673" "subst" "0" "02330" "ABCA1_000636" "g.107587673G>C" "" "" "" "ABCA1(NM_005502.4):c.2542+291C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722176" "0" "10" "9" "107588777" "107588777" "subst" "0" "02330" "ABCA1_000637" "g.107588777C>T" "" "" "" "ABCA1(NM_005502.4):c.2337+452G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722177" "0" "50" "9" "107589333" "107589333" "subst" "0" "02330" "ABCA1_000638" "g.107589333G>C" "" "" "" "ABCA1(NM_005502.4):c.2233C>G (p.L745V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722178" "0" "10" "9" "107593450" "107593451" "dup" "0" "02330" "ABCA1_000639" "g.107593450_107593451dup" "" "" "" "ABCA1(NM_005502.4):c.1716-50_1716-49dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722179" "0" "30" "9" "107594898" "107594898" "subst" "0" "02330" "ABCA1_000640" "g.107594898T>C" "" "" "" "ABCA1(NM_005502.4):c.1466A>G (p.N489S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722180" "0" "30" "9" "107594969" "107594969" "subst" "9.74603E-5" "02330" "ABCA1_000641" "g.107594969C>T" "" "" "" "ABCA1(NM_005502.4):c.1395G>A (p.A465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722181" "0" "30" "9" "107599823" "107599823" "subst" "4.06151E-5" "02330" "ABCA1_000642" "g.107599823C>T" "" "" "" "ABCA1(NM_005502.4):c.1080G>A (p.K360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722182" "0" "50" "9" "107602698" "107602698" "subst" "4.06085E-6" "01943" "ABCA1_000643" "g.107602698G>A" "" "" "" "ABCA1(NM_005502.3):c.916C>T (p.R306C), ABCA1(NM_005502.4):c.916C>T (p.R306C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722183" "0" "10" "9" "107604722" "107604722" "subst" "0" "02330" "ABCA1_000644" "g.107604722A>C" "" "" "" "ABCA1(NM_005502.4):c.814-1922T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722184" "0" "30" "9" "107607811" "107607811" "subst" "1.21884E-5" "02330" "ABCA1_000645" "g.107607811G>C" "" "" "" "ABCA1(NM_005502.4):c.760C>G (p.L254V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722185" "0" "10" "9" "107620299" "107620299" "subst" "0" "02330" "ABCA1_000646" "g.107620299C>T" "" "" "" "ABCA1(NM_005502.4):c.720+504G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722186" "0" "30" "9" "107620346" "107620346" "subst" "0" "02330" "ABCA1_000647" "g.107620346G>T" "" "" "" "ABCA1(NM_005502.4):c.720+457C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722187" "0" "10" "9" "107622483" "107622483" "subst" "0" "02330" "ABCA1_000648" "g.107622483A>G" "" "" "" "ABCA1(NM_005502.4):c.543+1477T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722188" "0" "10" "9" "107622498" "107622498" "subst" "0" "02330" "ABCA1_000649" "g.107622498A>C" "" "" "" "ABCA1(NM_005502.4):c.543+1462T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722189" "0" "10" "9" "107624137" "107624138" "del" "0" "02330" "ABCA1_000650" "g.107624137_107624138del" "" "" "" "ABCA1(NM_005502.4):c.422-44_422-43delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722190" "0" "10" "9" "107624397" "107624397" "dup" "0" "02330" "ABCA1_000651" "g.107624397dup" "" "" "" "ABCA1(NM_005502.4):c.422-304dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722191" "0" "30" "9" "107624563" "107624564" "del" "0" "02330" "ABCA1_000652" "g.107624563_107624564del" "" "" "" "ABCA1(NM_005502.4):c.422-472_422-471delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722192" "0" "10" "9" "107645244" "107645244" "subst" "0" "02330" "ABCA1_000653" "g.107645244A>C" "" "" "" "ABCA1(NM_005502.4):c.421+76T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722193" "0" "50" "9" "107646756" "107646756" "subst" "0.00144985" "01943" "ABCA1_000041" "g.107646756G>A" "" "" "" "ABCA1(NM_005502.3):c.254C>T (p.P85L), ABCA1(NM_005502.4):c.254C>T (p.P85L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722194" "0" "10" "9" "107647106" "107647106" "subst" "0" "02330" "ABCA1_000654" "g.107647106C>T" "" "" "" "ABCA1(NM_005502.4):c.161-257G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722195" "0" "30" "9" "107649280" "107649280" "subst" "0" "02330" "ABCA1_000655" "g.107649280C>A" "" "" "" "ABCA1(NM_005502.4):c.160+2103G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722196" "0" "70" "9" "107651406" "107651406" "subst" "4.06332E-6" "02330" "ABCA1_000656" "g.107651406T>C" "" "" "" "ABCA1(NM_005502.4):c.137A>G (p.Y46C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722197" "0" "10" "9" "107660780" "107660780" "subst" "0" "02330" "ABCA1_000657" "g.107660780A>T" "" "" "" "ABCA1(NM_005502.4):c.66+5115T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722198" "0" "10" "9" "107679141" "107679141" "subst" "0" "02330" "ABCA1_000658" "g.107679141T>C" "" "" "" "ABCA1(NM_005502.4):c.-93+11075A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722199" "0" "10" "9" "107682517" "107682517" "subst" "0" "02330" "ABCA1_000659" "g.107682517T>C" "" "" "" "ABCA1(NM_005502.4):c.-93+7699A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803802" "0" "50" "9" "107550311" "107550311" "subst" "8.12922E-6" "02330" "ABCA1_000660" "g.107550311G>T" "" "" "" "ABCA1(NM_005502.4):c.6094C>A (p.L2032M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803803" "0" "50" "9" "107550757" "107550757" "subst" "4.06818E-6" "02330" "ABCA1_000661" "g.107550757C>A" "" "" "" "ABCA1(NM_005502.4):c.6019G>T (p.V2007L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803804" "0" "30" "9" "107562783" "107562783" "subst" "0" "02330" "ABCA1_000662" "g.107562783C>T" "" "" "" "ABCA1(NM_005502.4):c.4773+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803805" "0" "30" "9" "107571788" "107571788" "subst" "0" "02330" "ABCA1_000663" "g.107571788G>A" "" "" "" "ABCA1(NM_005502.4):c.4233C>T (p.D1411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803806" "0" "70" "9" "107581134" "107581134" "subst" "0" "02330" "ABCA1_000664" "g.107581134A>G" "" "" "" "ABCA1(NM_005502.4):c.3272T>C (p.M1091T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000803807" "0" "30" "9" "107581964" "107581964" "subst" "3.2496E-5" "02330" "ABCA1_000665" "g.107581964G>A" "" "" "" "ABCA1(NM_005502.4):c.3144C>T (p.V1048=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803808" "0" "70" "9" "107582207" "107582207" "subst" "0" "02330" "ABCA1_000666" "g.107582207C>T" "" "" "" "ABCA1(NM_005502.4):c.3103+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000803809" "0" "50" "9" "107583706" "107583706" "subst" "8.12341E-5" "02330" "ABCA1_000667" "g.107583706G>A" "" "" "" "ABCA1(NM_005502.4):c.2910C>T (p.T970=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803810" "0" "30" "9" "107588157" "107588157" "subst" "0" "02330" "ABCA1_000668" "g.107588157A>G" "" "" "" "ABCA1(NM_005502.4):c.2349T>C (p.S783=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803811" "0" "70" "9" "107589296" "107589296" "subst" "1.62489E-5" "02330" "ABCA1_000669" "g.107589296A>G" "" "" "" "ABCA1(NM_005502.4):c.2270T>C (p.L757P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000803812" "0" "30" "9" "107594432" "107594432" "subst" "0" "02330" "ABCA1_000670" "g.107594432C>A" "" "" "" "ABCA1(NM_005502.4):c.1510-324G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803813" "0" "50" "9" "107595026" "107595026" "subst" "0.000475158" "02330" "ABCA1_000028" "g.107595026G>C" "" "" "" "ABCA1(NM_005502.4):c.1338C>G (p.D446E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803814" "0" "30" "9" "107602231" "107602231" "subst" "0" "02330" "ABCA1_000671" "g.107602231G>T" "" "" "" "ABCA1(NM_005502.4):c.1054+329C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803815" "0" "30" "9" "107620868" "107620868" "subst" "8.93365E-5" "02330" "ABCA1_000672" "g.107620868T>G" "" "" "" "ABCA1(NM_005502.4):c.655A>C (p.R219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803816" "0" "30" "9" "107624397" "107624397" "del" "0" "02330" "ABCA1_000673" "g.107624397del" "" "" "" "ABCA1(NM_005502.4):c.422-304delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803817" "0" "30" "9" "107645396" "107645396" "subst" "7.31101E-5" "02330" "ABCA1_000674" "g.107645396G>A" "" "" "" "ABCA1(NM_005502.4):c.345C>T (p.Y115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803818" "0" "50" "9" "107646861" "107646861" "subst" "9.74968E-5" "02330" "ABCA1_000675" "g.107646861G>C" "" "" "" "ABCA1(NM_005502.4):c.161-12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803819" "0" "50" "9" "107665977" "107665977" "subst" "1.11378E-5" "02330" "ABCA1_000676" "g.107665977C>T" "" "" "" "ABCA1(NM_005502.4):c.-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852046" "0" "50" "9" "107547805" "107547805" "subst" "2.84764E-5" "02330" "ABCA1_000677" "g.107547805G>A" "" "" "" "ABCA1(NM_005502.4):c.6517C>T (p.R2173W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852047" "0" "30" "9" "107550757" "107550757" "subst" "2.84773E-5" "02330" "ABCA1_000678" "g.107550757C>T" "" "" "" "ABCA1(NM_005502.4):c.6019G>A (p.V2007M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852048" "0" "30" "9" "107553244" "107553244" "subst" "4.06435E-6" "02330" "ABCA1_000679" "g.107553244A>G" "" "" "" "ABCA1(NM_005502.4):c.5886T>C (p.D1962=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852049" "0" "30" "9" "107556810" "107556811" "del" "0" "01943" "ABCA1_000166" "g.107556810_107556811del" "" "" "" "ABCA1(NM_005502.3):c.5383-4_5383-3delTT, ABCA1(NM_005502.4):c.5383-4_5383-3delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852050" "0" "50" "9" "107558450" "107558450" "subst" "0" "02330" "ABCA1_000682" "g.107558450C>G" "" "" "" "ABCA1(NM_005502.4):c.5266G>C (p.A1756P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852051" "0" "50" "9" "107560791" "107560791" "subst" "0" "02330" "ABCA1_000684" "g.107560791G>C" "" "" "" "ABCA1(NM_005502.4):c.5032C>G (p.Q1678E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852052" "0" "10" "9" "107561708" "107561717" "dup" "0" "02330" "ABCA1_000685" "g.107561708_107561717dup" "" "" "" "ABCA1(NM_005502.4):c.4943+415_4943+424dupTGTGTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852053" "0" "50" "9" "107564404" "107564404" "subst" "0" "02330" "ABCA1_000687" "g.107564404T>A" "" "" "" "ABCA1(NM_005502.4):c.4629A>T (p.Q1543H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852054" "0" "30" "9" "107568537" "107568537" "subst" "4.06567E-6" "02330" "ABCA1_000688" "g.107568537C>T" "" "" "" "ABCA1(NM_005502.4):c.4449G>A (p.G1483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852055" "0" "90" "9" "107576715" "107576715" "dup" "0" "02330" "ABCA1_000692" "g.107576715dup" "" "" "" "ABCA1(NM_005502.4):c.3780dupG (p.T1261Dfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000852056" "0" "30" "9" "107591180" "107591180" "subst" "0.000420388" "02330" "ABCA1_000701" "g.107591180G>A" "" "" "" "ABCA1(NM_005502.4):c.2115+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852057" "0" "70" "9" "107602698" "107602698" "subst" "4.06085E-6" "02330" "ABCA1_000643" "g.107602698G>A" "" "" "" "ABCA1(NM_005502.3):c.916C>T (p.R306C), ABCA1(NM_005502.4):c.916C>T (p.R306C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000852058" "0" "30" "9" "107620468" "107620468" "dup" "0" "02330" "ABCA1_000706" "g.107620468dup" "" "" "" "ABCA1(NM_005502.4):c.720+345dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852059" "0" "90" "9" "107651401" "107651401" "del" "0" "02330" "ABCA1_000708" "g.107651401del" "" "" "" "ABCA1(NM_005502.4):c.144delC (p.Y49Mfs*74)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000852060" "0" "30" "9" "107651417" "107651417" "subst" "0.000105641" "02330" "ABCA1_000709" "g.107651417A>G" "" "" "" "ABCA1(NM_005502.4):c.126T>C (p.V42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861322" "0" "50" "9" "107555138" "107555138" "subst" "0" "02330" "ABCA1_000680" "g.107555138T>C" "" "" "" "ABCA1(NM_005502.4):c.5686A>G (p.R1896G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861323" "0" "30" "9" "107556333" "107556333" "subst" "0" "02330" "ABCA1_000681" "g.107556333C>T" "" "" "" "ABCA1(NM_005502.4):c.5506+335G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861324" "0" "30" "9" "107558415" "107558415" "subst" "0.000459338" "01943" "ABCA1_000170" "g.107558415A>G" "" "" "" "ABCA1(NM_005502.3):c.5301T>C (p.Y1767=), ABCA1(NM_005502.4):c.5301T>C (p.Y1767=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861325" "0" "30" "9" "107560789" "107560789" "subst" "0.000503885" "02330" "ABCA1_000683" "g.107560789C>T" "" "" "" "ABCA1(NM_005502.4):c.5034G>A (p.Q1678=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861326" "0" "30" "9" "107563404" "107563409" "dup" "0" "02330" "ABCA1_000686" "g.107563404_107563409dup" "" "" "" "ABCA1(NM_005502.4):c.4699-538_4699-533dupTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861327" "0" "30" "9" "107566930" "107566930" "subst" "2.43752E-5" "01943" "ABCA1_000495" "g.107566930C>T" "" "" "" "ABCA1(NM_005502.3):c.4536G>A (p.T1512=), ABCA1(NM_005502.4):c.4536G>A (p.T1512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861328" "0" "50" "9" "107568547" "107568547" "subst" "8.12506E-6" "02330" "ABCA1_000689" "g.107568547C>G" "" "" "" "ABCA1(NM_005502.4):c.4439G>C (p.G1480A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861329" "0" "30" "9" "107571755" "107571755" "subst" "0" "02330" "ABCA1_000690" "g.107571755G>A" "" "" "" "ABCA1(NM_005502.4):c.4266C>T (p.N1422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861330" "0" "30" "9" "107573458" "107573458" "subst" "0" "02330" "ABCA1_000691" "g.107573458C>G" "" "" "" "ABCA1(NM_005502.4):c.4051-253G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861331" "0" "50" "9" "107578507" "107578507" "subst" "0" "02330" "ABCA1_000558" "g.107578507C>A" "" "" "" "ABCA1(NM_005502.4):c.3655G>T (p.V1219L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861332" "0" "50" "9" "107579677" "107579677" "subst" "4.06184E-6" "02330" "ABCA1_000693" "g.107579677A>C" "" "" "" "ABCA1(NM_005502.4):c.3471T>G (p.S1157R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861333" "0" "50" "9" "107581007" "107581007" "subst" "0" "02330" "ABCA1_000694" "g.107581007T>G" "" "" "" "ABCA1(NM_005502.4):c.3399A>C (p.K1133N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861334" "0" "50" "9" "107581168" "107581168" "subst" "0" "02330" "ABCA1_000695" "g.107581168C>A" "" "" "" "ABCA1(NM_005502.4):c.3242-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861335" "0" "50" "9" "107582244" "107582244" "subst" "4.06227E-6" "02330" "ABCA1_000696" "g.107582244A>C" "" "" "" "ABCA1(NM_005502.4):c.3067T>G (p.S1023A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861336" "0" "10" "9" "107588328" "107588328" "subst" "0" "02330" "ABCA1_000697" "g.107588328G>A" "" "" "" "ABCA1(NM_005502.4):c.2338-160C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861337" "0" "30" "9" "107588497" "107588497" "subst" "0" "02330" "ABCA1_000698" "g.107588497G>T" "" "" "" "ABCA1(NM_005502.4):c.2338-329C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861338" "0" "50" "9" "107589393" "107589393" "subst" "0" "02330" "ABCA1_000699" "g.107589393A>T" "" "" "" "ABCA1(NM_005502.4):c.2173T>A (p.F725I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861339" "0" "10" "9" "107589567" "107589567" "subst" "0" "02330" "ABCA1_000700" "g.107589567C>T" "" "" "" "ABCA1(NM_005502.4):c.2116-117G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861340" "0" "50" "9" "107593252" "107593252" "subst" "0" "02330" "ABCA1_000702" "g.107593252C>A" "" "" "" "ABCA1(NM_005502.4):c.1846G>T (p.G616C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861341" "0" "30" "9" "107593448" "107593451" "del" "0" "02330" "ABCA1_000703" "g.107593448_107593451del" "" "" "" "ABCA1(NM_005502.4):c.1716-52_1716-49delTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861342" "0" "30" "9" "107593449" "107593451" "del" "0" "02330" "ABCA1_000704" "g.107593449_107593451del" "" "" "" "ABCA1(NM_005502.4):c.1716-51_1716-49delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861343" "0" "50" "9" "107595030" "107595030" "subst" "0" "02330" "ABCA1_000705" "g.107595030T>C" "" "" "" "ABCA1(NM_005502.4):c.1334A>G (p.N445S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861344" "0" "50" "9" "107620814" "107620814" "subst" "5.685E-5" "02330" "ABCA1_000707" "g.107620814T>C" "" "" "" "ABCA1(NM_005502.4):c.709A>G (p.K237E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888502" "0" "50" "9" "107546579" "107546579" "subst" "4.06441E-5" "02330" "ABCA1_000710" "g.107546579C>T" "" "" "" "ABCA1(NM_005502.4):c.*17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888503" "0" "50" "9" "107546587" "107546587" "del" "2.84483E-5" "02330" "ABCA1_000711" "g.107546587del" "" "" "" "ABCA1(NM_005502.4):c.*9delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888504" "0" "50" "9" "107546652" "107546652" "subst" "0.000203224" "02325" "ABCA1_000058" "g.107546652C>T" "" "" "" "ABCA1(NM_005502.4):c.6730G>A (p.V2244I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888505" "0" "50" "9" "107546681" "107546681" "subst" "4.87769E-5" "02330" "ABCA1_000712" "g.107546681G>A" "" "" "" "ABCA1(NM_005502.4):c.6701C>T (p.S2234L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888506" "0" "50" "9" "107547847" "107547847" "subst" "0" "02330" "ABCA1_000713" "g.107547847A>G" "" "" "" "ABCA1(NM_005502.4):c.6475T>C (p.F2159L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888507" "0" "30" "9" "107549143" "107549143" "subst" "1.21949E-5" "02330" "ABCA1_000714" "g.107549143T>C" "" "" "" "ABCA1(NM_005502.4):c.6308+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888508" "0" "30" "9" "107549303" "107549303" "del" "0" "02326" "ABCA1_000551" "g.107549303del" "" "" "" "ABCA1(NM_005502.4):c.6205-39delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888509" "0" "30" "9" "107550868" "107550868" "subst" "6.11377E-5" "02330" "ABCA1_000715" "g.107550868T>C" "" "" "" "ABCA1(NM_005502.4):c.5928-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888510" "0" "10" "9" "107553621" "107553621" "subst" "0" "02330" "ABCA1_000716" "g.107553621G>A" "" "" "" "ABCA1(NM_005502.4):c.5821-312C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888511" "0" "50" "9" "107554237" "107554237" "subst" "9.38079E-5" "02330" "ABCA1_000717" "g.107554237C>T" "" "" "" "ABCA1(NM_005502.4):c.5800G>A (p.V1934M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888512" "0" "50" "9" "107554264" "107554264" "subst" "8.17976E-6" "02330" "ABCA1_000718" "g.107554264G>A" "" "" "" "ABCA1(NM_005502.4):c.5773C>T (p.R1925W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888513" "0" "30" "9" "107555169" "107555169" "subst" "5.6893E-5" "02330" "ABCA1_000719" "g.107555169T>C" "" "" "" "ABCA1(NM_005502.4):c.5655A>G (p.L1885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888514" "0" "30" "9" "107555502" "107555502" "subst" "4.06564E-6" "02330" "ABCA1_000720" "g.107555502C>T" "" "" "" "ABCA1(NM_005502.4):c.5586G>A (p.V1862=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888515" "0" "50" "9" "107555504" "107555504" "subst" "0" "02330" "ABCA1_000721" "g.107555504C>T" "" "" "" "ABCA1(NM_005502.4):c.5584G>A (p.V1862M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888516" "0" "30" "9" "107558320" "107558320" "subst" "0" "02330" "ABCA1_000722" "g.107558320T>G" "" "" "" "ABCA1(NM_005502.4):c.5382+14A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888517" "0" "30" "9" "107562138" "107562138" "subst" "0" "02330" "ABCA1_000723" "g.107562138G>A" "" "" "" "ABCA1(NM_005502.4):c.4905C>T (p.P1635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888518" "0" "50" "9" "107562269" "107562269" "subst" "8.13121E-6" "02330" "ABCA1_000724" "g.107562269C>A" "" "" "" "ABCA1(NM_005502.4):c.4774G>T (p.V1592L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888519" "0" "30" "9" "107562779" "107562779" "subst" "3.25039E-5" "02330" "ABCA1_000725" "g.107562779A>G" "" "" "" "ABCA1(NM_005502.4):c.4773+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888520" "0" "30" "9" "107564323" "107564323" "subst" "2.43791E-5" "02330" "ABCA1_000726" "g.107564323T>C" "" "" "" "ABCA1(NM_005502.4):c.4698+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888521" "0" "30" "9" "107566668" "107566668" "subst" "0" "02330" "ABCA1_000727" "g.107566668C>T" "" "" "" "ABCA1(NM_005502.4):c.4559+239G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888522" "0" "10" "9" "107568207" "107568207" "subst" "0" "02330" "ABCA1_000728" "g.107568207G>A" "" "" "" "ABCA1(NM_005502.4):c.4464+315C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888523" "0" "30" "9" "107568503" "107568503" "subst" "0" "02330" "ABCA1_000729" "g.107568503C>A" "" "" "" "ABCA1(NM_005502.4):c.4464+19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888524" "0" "30" "9" "107568510" "107568510" "subst" "0.000512967" "02330" "ABCA1_000730" "g.107568510A>G" "" "" "" "ABCA1(NM_005502.4):c.4464+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888525" "0" "50" "9" "107568650" "107568650" "subst" "8.12499E-6" "02330" "ABCA1_000731" "g.107568650T>C" "" "" "" "ABCA1(NM_005502.4):c.4336A>G (p.M1446V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888526" "0" "30" "9" "107568667" "107568667" "subst" "0" "02330" "ABCA1_000732" "g.107568667G>A" "" "" "" "ABCA1(NM_005502.4):c.4319C>T (p.P1440L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888527" "0" "30" "9" "107571779" "107571779" "subst" "8.12401E-6" "02330" "ABCA1_000733" "g.107571779G>A" "" "" "" "ABCA1(NM_005502.4):c.4242C>T (p.F1414=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888528" "0" "30" "9" "107571782" "107571782" "subst" "4.06174E-6" "02330" "ABCA1_000734" "g.107571782G>A" "" "" "" "ABCA1(NM_005502.4):c.4239C>T (p.G1413=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888529" "0" "50" "9" "107571826" "107571826" "subst" "0.0002153" "02330" "ABCA1_000735" "g.107571826T>A" "" "" "" "ABCA1(NM_005502.4):c.4195A>T (p.T1399S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888530" "0" "10" "9" "107572024" "107572024" "subst" "0" "02330" "ABCA1_000736" "g.107572024G>A" "" "" "" "ABCA1(NM_005502.4):c.4176-179C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888531" "0" "50" "9" "107573154" "107573154" "subst" "2.43655E-5" "02330" "ABCA1_000737" "g.107573154C>T" "" "" "" "ABCA1(NM_005502.4):c.4102G>A (p.V1368M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888532" "0" "30" "9" "107573220" "107573220" "subst" "0" "02330" "ABCA1_000738" "g.107573220T>C" "" "" "" "ABCA1(NM_005502.4):c.4051-15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888533" "0" "50" "9" "107575011" "107575011" "subst" "0" "02330" "ABCA1_000739" "g.107575011A>T" "" "" "" "ABCA1(NM_005502.4):c.3902-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888534" "0" "30" "9" "107576382" "107576382" "subst" "1.22078E-5" "02330" "ABCA1_000740" "g.107576382A>T" "" "" "" "ABCA1(NM_005502.4):c.3901+17T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888535" "0" "30" "9" "107576490" "107576490" "subst" "0" "02330" "ABCA1_000741" "g.107576490T>G" "" "" "" "ABCA1(NM_005502.4):c.3810A>C (p.R1270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888536" "0" "50" "9" "107576519" "107576519" "subst" "1.62571E-5" "02330" "ABCA1_000742" "g.107576519G>T" "" "" "" "ABCA1(NM_005502.4):c.3788-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888537" "0" "10" "9" "107578401" "107578401" "subst" "0.0221631" "02330" "ABCA1_000743" "g.107578401C>T" "" "" "" "ABCA1(NM_005502.4):c.3738+23G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888538" "0" "50" "9" "107580961" "107580961" "subst" "0" "02330" "ABCA1_000744" "g.107580961C>G" "" "" "" "ABCA1(NM_005502.4):c.3445G>C (p.V1149L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888539" "0" "30" "9" "107581088" "107581088" "subst" "0" "02330" "ABCA1_000745" "g.107581088A>G" "" "" "" "ABCA1(NM_005502.4):c.3318T>C (p.H1106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888540" "0" "90" "9" "107581996" "107581996" "subst" "0" "02330" "ABCA1_000746" "g.107581996G>A" "" "" "" "ABCA1(NM_005502.4):c.3112C>T (p.Q1038*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888541" "0" "30" "9" "107582197" "107582197" "subst" "0" "02330" "ABCA1_000747" "g.107582197C>T" "" "" "" "ABCA1(NM_005502.4):c.3103+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888542" "0" "30" "9" "107582204" "107582204" "subst" "2.44606E-5" "02330" "ABCA1_000748" "g.107582204G>A" "" "" "" "ABCA1(NM_005502.4):c.3103+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888543" "0" "30" "9" "107582205" "107582205" "subst" "2.85158E-5" "02330" "ABCA1_000749" "g.107582205C>T" "" "" "" "ABCA1(NM_005502.4):c.3103+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888544" "0" "50" "9" "107582270" "107582270" "subst" "0" "02330" "ABCA1_000750" "g.107582270T>C" "" "" "" "ABCA1(NM_005502.4):c.3041A>G (p.Q1014R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888545" "0" "30" "9" "107583802" "107583802" "subst" "0" "02330" "ABCA1_000751" "g.107583802T>A" "" "" "" "ABCA1(NM_005502.4):c.2829-15A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888546" "0" "50" "9" "107584856" "107584856" "subst" "0" "02330" "ABCA1_000752" "g.107584856C>T" "" "" "" "ABCA1(NM_005502.4):c.2749G>A (p.D917N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888547" "0" "50" "9" "107589414" "107589414" "subst" "4.06154E-5" "02330" "ABCA1_000753" "g.107589414C>A" "" "" "" "ABCA1(NM_005502.4):c.2152G>T (p.V718L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888548" "0" "30" "9" "107593192" "107593192" "subst" "0" "02330" "ABCA1_000754" "g.107593192T>G" "" "" "" "ABCA1(NM_005502.4):c.1892+14A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888549" "0" "70" "9" "107593326" "107593326" "subst" "0" "02330" "ABCA1_000755" "g.107593326C>T" "" "" "" "ABCA1(NM_005502.4):c.1772G>A (p.G591E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888550" "0" "50" "9" "107593333" "107593333" "subst" "8.12249E-5" "02330" "ABCA1_000756" "g.107593333C>T" "" "" "" "ABCA1(NM_005502.4):c.1765G>A (p.V589I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888551" "0" "50" "9" "107593940" "107593940" "subst" "0" "02330" "ABCA1_000757" "g.107593940T>C" "" "" "" "ABCA1(NM_005502.4):c.1678A>G (p.I560V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888552" "0" "30" "9" "107594877" "107594877" "subst" "1.21823E-5" "02330" "ABCA1_000758" "g.107594877C>T" "" "" "" "ABCA1(NM_005502.4):c.1487G>A (p.R496Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888553" "0" "50" "9" "107594992" "107594992" "subst" "0" "02330" "ABCA1_000759" "g.107594992A>G" "" "" "" "ABCA1(NM_005502.4):c.1372T>C (p.W458R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888554" "0" "50" "9" "107595038" "107595038" "subst" "5.68616E-5" "02330" "ABCA1_000760" "g.107595038G>C" "" "" "" "ABCA1(NM_005502.4):c.1326C>G (p.S442R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888555" "0" "30" "9" "107599766" "107599766" "subst" "2.8434E-5" "02330" "ABCA1_000761" "g.107599766G>A" "" "" "" "ABCA1(NM_005502.4):c.1137C>T (p.L379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888556" "0" "50" "9" "107602554" "107602554" "subst" "0" "02330" "ABCA1_000762" "g.107602554A>G" "" "" "" "ABCA1(NM_005502.4):c.1054+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888557" "0" "90" "9" "107602639" "107602639" "del" "0" "02330" "ABCA1_000763" "g.107602639del" "" "" "" "ABCA1(NM_005502.4):c.975delT (p.Y325*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888558" "0" "30" "9" "107607829" "107607829" "subst" "0.000117844" "02330" "ABCA1_000764" "g.107607829G>C" "" "" "" "ABCA1(NM_005502.4):c.742C>G (p.P248A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888559" "0" "50" "9" "107620843" "107620843" "subst" "0" "02330" "ABCA1_000765" "g.107620843C>T" "" "" "" "ABCA1(NM_005502.4):c.680G>A (p.R227Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888560" "0" "50" "9" "107620910" "107620910" "subst" "0.000170553" "02330" "ABCA1_000766" "g.107620910G>T" "" "" "" "ABCA1(NM_005502.4):c.613C>A (p.Q205K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888561" "0" "30" "9" "107620994" "107620994" "subst" "0" "02330" "ABCA1_000767" "g.107620994T>C" "" "" "" "ABCA1(NM_005502.4):c.544-15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888562" "0" "30" "9" "107623944" "107623944" "subst" "0" "02330" "ABCA1_000768" "g.107623944G>A" "" "" "" "ABCA1(NM_005502.4):c.543+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888563" "0" "30" "9" "107646516" "107646516" "subst" "0" "02330" "ABCA1_000769" "g.107646516G>A" "" "" "" "ABCA1(NM_005502.4):c.302+192C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888564" "0" "50" "9" "107646756" "107646756" "subst" "0.00144985" "02325" "ABCA1_000041" "g.107646756G>A" "" "" "" "ABCA1(NM_005502.3):c.254C>T (p.P85L), ABCA1(NM_005502.4):c.254C>T (p.P85L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888565" "0" "30" "9" "107665934" "107665934" "subst" "0" "02330" "ABCA1_000770" "g.107665934C>T" "" "" "" "ABCA1(NM_005502.4):c.27G>A (p.L9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888566" "0" "30" "9" "107665963" "107665963" "subst" "5.36579E-6" "02330" "ABCA1_000771" "g.107665963T>A" "" "" "" "ABCA1(NM_005502.4):c.-3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000908904" "0" "70" "9" "107558587" "107558587" "subst" "4.07087E-6" "00006" "ABCA1_000772" "g.107558587T>G" "" "{PMID:Bournazos 2022:34906502}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.104796306T>G" "" "likely pathogenic (dominant)" "" "0000913011" "0" "50" "9" "107546681" "107546681" "subst" "4.87769E-5" "02325" "ABCA1_000712" "g.107546681G>A" "" "" "" "ABCA1(NM_005502.4):c.6701C>T (p.S2234L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913012" "0" "30" "9" "107548722" "107548722" "subst" "0" "02330" "ABCA1_000773" "g.107548722A>G" "" "" "" "ABCA1(NM_005502.4):c.6309-51T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913013" "0" "30" "9" "107550225" "107550225" "subst" "3.24934E-5" "02330" "ABCA1_000774" "g.107550225G>A" "" "" "" "ABCA1(NM_005502.4):c.6180C>T (p.I2060=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913014" "0" "10" "9" "107553185" "107553185" "subst" "0.180177" "02329" "ABCA1_000152" "g.107553185A>G" "" "" "" "ABCA1(NM_005502.4):c.5927+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913015" "0" "30" "9" "107555441" "107555441" "subst" "0" "02330" "ABCA1_000775" "g.107555441A>G" "" "" "" "ABCA1(NM_005502.4):c.5636+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913016" "0" "30" "9" "107556356" "107556356" "subst" "0" "02330" "ABCA1_000776" "g.107556356A>C" "" "" "" "ABCA1(NM_005502.4):c.5506+312T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913017" "0" "10" "9" "107556809" "107556811" "dup" "0" "02329" "ABCA1_000168" "g.107556809_107556811dup" "" "" "" "ABCA1(NM_005502.3):c.5383-5_5383-3dupTTT, ABCA1(NM_005502.4):c.5383-5_5383-3dupTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913018" "0" "10" "9" "107556810" "107556811" "dup" "0" "02329" "ABCA1_000272" "g.107556810_107556811dup" "" "" "" "ABCA1(NM_005502.3):c.5383-4_5383-3dupTT, ABCA1(NM_005502.4):c.5383-4_5383-3dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913019" "0" "10" "9" "107556811" "107556811" "del" "0" "02329" "ABCA1_000076" "g.107556811del" "" "" "" "ABCA1(NM_005502.3):c.5383-3delT, ABCA1(NM_005502.4):c.5383-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913020" "0" "30" "9" "107556978" "107556978" "subst" "0" "02330" "ABCA1_000777" "g.107556978G>T" "" "" "" "ABCA1(NM_005502.4):c.5383-187C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913021" "0" "10" "9" "107561712" "107561717" "dup" "0" "02330" "ABCA1_000778" "g.107561712_107561717dup" "" "" "" "ABCA1(NM_005502.4):c.4943+419_4943+424dupTGTGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913022" "0" "50" "9" "107562239" "107562239" "subst" "3.25058E-5" "02330" "ABCA1_000779" "g.107562239T>C" "" "" "" "ABCA1(NM_005502.4):c.4804A>G (p.I1602V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913023" "0" "10" "9" "107562804" "107562804" "subst" "0.7093" "02329" "ABCA1_000002" "g.107562804T>C" "" "" "" "ABCA1(NM_005502.4):c.4760A>G (p.K1587R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913024" "0" "10" "9" "107562804" "107562804" "subst" "0.7093" "02327" "ABCA1_000002" "g.107562804T>C" "" "" "" "ABCA1(NM_005502.4):c.4760A>G (p.K1587R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913025" "0" "30" "9" "107565904" "107565904" "subst" "0" "02330" "ABCA1_000780" "g.107565904T>C" "" "" "" "ABCA1(NM_005502.4):c.4560-307A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913026" "0" "10" "9" "107568705" "107568705" "subst" "0.113733" "02329" "ABCA1_000187" "g.107568705C>T" "" "" "" "ABCA1(NM_005502.4):c.4281G>A (p.T1427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913027" "0" "10" "9" "107568705" "107568705" "subst" "0.113733" "02327" "ABCA1_000187" "g.107568705C>T" "" "" "" "ABCA1(NM_005502.4):c.4281G>A (p.T1427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913028" "0" "50" "9" "107571814" "107571814" "subst" "0" "02330" "ABCA1_000781" "g.107571814C>G" "" "" "" "ABCA1(NM_005502.4):c.4207G>C (p.E1403Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913029" "0" "50" "9" "107571832" "107571832" "subst" "8.12499E-6" "02330" "ABCA1_000782" "g.107571832C>T" "" "" "" "ABCA1(NM_005502.4):c.4189G>A (p.E1397K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913030" "0" "30" "9" "107578559" "107578559" "subst" "1.62423E-5" "02330" "ABCA1_000783" "g.107578559C>T" "" "" "" "ABCA1(NM_005502.4):c.3603G>A (p.G1201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913031" "0" "30" "9" "107579383" "107579383" "subst" "0" "02330" "ABCA1_000784" "g.107579383C>T" "" "" "" "ABCA1(NM_005502.4):c.3535+230G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913032" "0" "50" "9" "107583702" "107583702" "subst" "2.03094E-5" "02330" "ABCA1_000785" "g.107583702G>A" "" "" "" "ABCA1(NM_005502.4):c.2914C>T (p.R972W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913033" "0" "70" "9" "107583774" "107583774" "subst" "0" "02330" "ABCA1_000786" "g.107583774C>T" "" "" "" "ABCA1(NM_005502.4):c.2842G>A (p.G948R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913034" "0" "10" "9" "107586753" "107586753" "subst" "0.208308" "02329" "ABCA1_000094" "g.107586753T>C" "" "" "" "ABCA1(NM_005502.4):c.2649A>G (p.I883M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913035" "0" "50" "9" "107587997" "107587997" "subst" "2.03056E-5" "02330" "ABCA1_000787" "g.107587997C>A" "" "" "" "ABCA1(NM_005502.4):c.2509G>T (p.V837L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913036" "0" "50" "9" "107589243" "107589243" "subst" "0" "02330" "ABCA1_000788" "g.107589243G>C" "" "" "" "ABCA1(NM_005502.4):c.2323C>G (p.L775V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913037" "0" "10" "9" "107589255" "107589255" "subst" "0.0540105" "02329" "ABCA1_000103" "g.107589255C>T" "" "" "" "ABCA1(NM_005502.4):c.2311G>A (p.V771M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913038" "0" "10" "9" "107591272" "107591272" "subst" "0.199104" "02329" "ABCA1_000110" "g.107591272G>T" "" "" "" "ABCA1(NM_005502.4):c.2040C>A (p.I680=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913039" "0" "50" "9" "107593374" "107593374" "subst" "0" "02330" "ABCA1_000789" "g.107593374T>C" "" "" "" "ABCA1(NM_005502.4):c.1724A>G (p.D575G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913040" "0" "50" "9" "107594002" "107594002" "subst" "8.12176E-6" "02330" "ABCA1_000790" "g.107594002G>A" "" "" "" "ABCA1(NM_005502.4):c.1616C>T (p.T539I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913041" "0" "10" "9" "107602666" "107602666" "subst" "0.122318" "02329" "ABCA1_000131" "g.107602666C>T" "" "" "" "ABCA1(NM_005502.4):c.948G>A (p.G316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913042" "0" "10" "9" "107602666" "107602666" "subst" "0.122318" "02327" "ABCA1_000131" "g.107602666C>T" "" "" "" "ABCA1(NM_005502.4):c.948G>A (p.G316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913043" "0" "10" "9" "107602678" "107602678" "subst" "0.0848604" "02329" "ABCA1_000132" "g.107602678G>A" "" "" "" "ABCA1(NM_005502.4):c.936C>T (p.P312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913044" "0" "10" "9" "107620867" "107620867" "subst" "0.322173" "02329" "ABCA1_000431" "g.107620867C>T" "" "" "" "ABCA1(NM_005502.4):c.656G>A (p.R219K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913045" "0" "10" "9" "107620867" "107620867" "subst" "0.322173" "02327" "ABCA1_000431" "g.107620867C>T" "" "" "" "ABCA1(NM_005502.4):c.656G>A (p.R219K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913046" "0" "30" "9" "107621187" "107621187" "subst" "0" "02330" "ABCA1_000791" "g.107621187C>A" "" "" "" "ABCA1(NM_005502.4):c.544-208G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913047" "0" "30" "9" "107621188" "107621188" "subst" "0" "02330" "ABCA1_000792" "g.107621188C>A" "" "" "" "ABCA1(NM_005502.4):c.544-209G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913048" "0" "30" "9" "107623760" "107623760" "subst" "0" "02330" "ABCA1_000793" "g.107623760C>T" "" "" "" "ABCA1(NM_005502.4):c.543+200G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913049" "0" "10" "9" "107624029" "107624029" "subst" "0.298615" "02329" "ABCA1_000142" "g.107624029C>T" "" "" "" "ABCA1(NM_005502.4):c.474G>A (p.L158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913050" "0" "10" "9" "107624029" "107624029" "subst" "0.298615" "02327" "ABCA1_000142" "g.107624029C>T" "" "" "" "ABCA1(NM_005502.4):c.474G>A (p.L158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913051" "0" "30" "9" "107647077" "107647077" "subst" "0" "02330" "ABCA1_000794" "g.107647077G>C" "" "" "" "ABCA1(NM_005502.4):c.161-228C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924918" "0" "10" "9" "107548566" "107548566" "subst" "0.0865498" "02329" "ABCA1_000065" "g.107548566T>C" "" "" "" "ABCA1(NM_005502.4):c.6401+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924919" "0" "50" "9" "107554263" "107554263" "subst" "0.00235452" "02325" "ABCA1_000014" "g.107554263C>T" "" "" "" "ABCA1(NM_005502.4):c.5774G>A (p.R1925Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924920" "0" "30" "9" "107555526" "107555526" "subst" "1.62636E-5" "02330" "ABCA1_000795" "g.107555526G>A" "" "" "" "ABCA1(NM_005502.4):c.5562C>T (p.F1854=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924921" "0" "50" "9" "107555577" "107555577" "subst" "0" "02330" "ABCA1_000796" "g.107555577C>G" "" "" "" "ABCA1(NM_005502.4):c.5511G>C (p.E1837D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924922" "0" "10" "9" "107556811" "107556811" "dup" "0" "02329" "ABCA1_000273" "g.107556811dup" "" "" "" "ABCA1(NM_005502.3):c.5383-3dupT, ABCA1(NM_005502.4):c.5383-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924923" "0" "30" "9" "107564320" "107564320" "subst" "6.50132E-5" "02330" "ABCA1_000797" "g.107564320C>T" "" "" "" "ABCA1(NM_005502.4):c.4698+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924924" "0" "50" "9" "107568584" "107568584" "subst" "0" "02330" "ABCA1_000798" "g.107568584C>T" "" "" "" "ABCA1(NM_005502.4):c.4402G>A (p.D1468N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924925" "0" "50" "9" "107568586" "107568586" "subst" "4.06197E-5" "02330" "ABCA1_000799" "g.107568586C>T" "" "" "" "ABCA1(NM_005502.4):c.4400G>A (p.S1467N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924926" "0" "30" "9" "107571827" "107571827" "subst" "4.06263E-6" "02330" "ABCA1_000800" "g.107571827G>A" "" "" "" "ABCA1(NM_005502.4):c.4194C>T (p.D1398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924927" "0" "10" "9" "107578529" "107578529" "subst" "0.0137613" "02329" "ABCA1_000200" "g.107578529T>C" "" "" "" "ABCA1(NM_005502.4):c.3633A>G (p.E1211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924928" "0" "30" "9" "107578632" "107578632" "subst" "2.43803E-5" "02330" "ABCA1_000801" "g.107578632G>A" "" "" "" "ABCA1(NM_005502.4):c.3536-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924929" "0" "10" "9" "107579632" "107579632" "subst" "0.0344409" "02329" "ABCA1_000202" "g.107579632C>G" "" "" "" "ABCA1(NM_005502.4):c.3516G>C (p.E1172D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924930" "0" "50" "9" "107587972" "107587972" "subst" "3.24918E-5" "02330" "ABCA1_000802" "g.107587972A>G" "" "" "" "ABCA1(NM_005502.4):c.2534T>C (p.V845A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924931" "0" "10" "9" "107588033" "107588033" "subst" "0.0809805" "02329" "ABCA1_000097" "g.107588033C>T" "" "" "" "ABCA1(NM_005502.4):c.2473G>A (p.V825I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924932" "0" "30" "9" "107589418" "107589418" "subst" "0.000134043" "02330" "ABCA1_000803" "g.107589418G>A" "" "" "" "ABCA1(NM_005502.4):c.2148C>T (p.S716=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924933" "0" "30" "9" "107595071" "107595071" "subst" "2.84481E-5" "02330" "ABCA1_000804" "g.107595071A>G" "" "" "" "ABCA1(NM_005502.4):c.1312-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924934" "0" "10" "9" "107599390" "107599390" "subst" "0.090569" "02329" "ABCA1_000125" "g.107599390G>A" "" "" "" "ABCA1(NM_005502.4):c.1195-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924935" "0" "30" "9" "107602597" "107602597" "subst" "0" "02330" "ABCA1_000805" "g.107602597A>G" "" "" "" "ABCA1(NM_005502.4):c.1017T>C (p.T339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924936" "0" "10" "9" "107602814" "107602814" "dup" "0" "02329" "ABCA1_000418" "g.107602814dup" "" "" "" "ABCA1(NM_005502.4):c.814-14dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924937" "0" "50" "9" "107665953" "107665953" "subst" "0.000155566" "02330" "ABCA1_000806" "g.107665953C>A" "" "" "" "ABCA1(NM_005502.4):c.8G>T (p.C3F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929488" "0" "50" "9" "107547832" "107547832" "subst" "1.6267E-5" "02330" "ABCA1_000807" "g.107547832G>A" "" "" "" "ABCA1(NM_005502.4):c.6490C>T (p.P2164S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929489" "0" "50" "9" "107547873" "107547873" "subst" "3.66247E-5" "02330" "ABCA1_000808" "g.107547873G>A" "" "" "" "ABCA1(NM_005502.4):c.6449C>T (p.P2150L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929490" "0" "30" "9" "107548626" "107548626" "subst" "0" "02330" "ABCA1_000809" "g.107548626G>A" "" "" "" "ABCA1(NM_005502.4):c.6354C>T (p.V2118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929491" "0" "10" "9" "107550222" "107550222" "subst" "0.0321898" "02329" "ABCA1_000070" "g.107550222G>A" "" "" "" "ABCA1(NM_005502.4):c.6183C>T (p.G2061=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929492" "0" "30" "9" "107550857" "107550857" "subst" "0" "02330" "ABCA1_000810" "g.107550857G>A" "" "" "" "ABCA1(NM_005502.4):c.5928-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929493" "0" "90" "9" "107556748" "107556748" "del" "0" "02330" "ABCA1_000811" "g.107556748del" "" "" "" "ABCA1(NM_005502.4):c.5426delT (p.I1809Tfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929494" "0" "30" "9" "107562285" "107562285" "subst" "0" "02330" "ABCA1_000812" "g.107562285C>G" "" "" "" "ABCA1(NM_005502.4):c.4774-16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929495" "0" "30" "9" "107564321" "107564321" "subst" "1.219E-5" "02330" "ABCA1_000813" "g.107564321G>A" "" "" "" "ABCA1(NM_005502.4):c.4698+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929496" "0" "50" "9" "107574979" "107574979" "subst" "0" "02330" "ABCA1_000814" "g.107574979C>T" "" "" "" "ABCA1(NM_005502.4):c.3926G>A (p.S1309N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929497" "0" "50" "9" "107578428" "107578428" "subst" "0" "02330" "ABCA1_000815" "g.107578428T>C" "" "" "" "ABCA1(NM_005502.4):c.3734A>G (p.E1245G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929498" "0" "50" "9" "107581161" "107581161" "subst" "2.06228E-5" "02330" "ABCA1_000816" "g.107581161C>T" "" "" "" "ABCA1(NM_005502.4):c.3245G>A (p.R1082H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929499" "0" "50" "9" "107588035" "107588035" "subst" "2.84282E-5" "02325" "ABCA1_000099" "g.107588035G>A" "" "" "" "ABCA1(NM_005502.4):c.2471C>T (p.S824L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929500" "0" "50" "9" "107588077" "107588077" "subst" "0" "02330" "ABCA1_000817" "g.107588077A>G" "" "" "" "ABCA1(NM_005502.4):c.2429T>C (p.F810S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929501" "0" "30" "9" "107593217" "107593217" "subst" "0.000182732" "02330" "ABCA1_000818" "g.107593217G>A" "" "" "" "ABCA1(NM_005502.4):c.1881C>T (p.Y627=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929502" "0" "30" "9" "107593998" "107593998" "subst" "0" "02330" "ABCA1_000819" "g.107593998T>A" "" "" "" "ABCA1(NM_005502.4):c.1620A>T (p.G540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000936204" "0" "50" "9" "107584840" "107584840" "subst" "0" "00006" "ABCA1_000820" "g.107584840T>C" "" "{PMID:Hamdan 2017:29100083}" "" "NM_005502:c.A2765G (N922S)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000949136" "0" "10" "9" "107549862" "107549862" "subst" "0" "02330" "ABCA1_000821" "g.107549862G>C" "" "" "" "ABCA1(NM_005502.4):c.6204+339C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949137" "0" "50" "9" "107552954" "107552954" "subst" "0" "02330" "ABCA1_000822" "g.107552954T>C" "" "" "" "ABCA1(NM_005502.4):c.5927+249A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949138" "0" "10" "9" "107554449" "107554449" "subst" "0" "02330" "ABCA1_000823" "g.107554449G>A" "" "" "" "ABCA1(NM_005502.4):c.5758-170C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949139" "0" "50" "9" "107556713" "107556713" "subst" "0" "02330" "ABCA1_000824" "g.107556713C>T" "" "" "" "ABCA1(NM_005502.4):c.5461G>A (p.D1821N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949140" "0" "50" "9" "107560821" "107560821" "subst" "4.46951E-5" "02330" "ABCA1_000825" "g.107560821C>T" "" "" "" "ABCA1(NM_005502.4):c.5002G>A (p.V1668I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949141" "0" "50" "9" "107564393" "107564393" "subst" "2.03148E-5" "02330" "ABCA1_000826" "g.107564393G>A" "" "" "" "ABCA1(NM_005502.4):c.4640C>T (p.P1547L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949142" "0" "10" "9" "107567416" "107567416" "subst" "0" "02330" "ABCA1_000827" "g.107567416C>T" "" "" "" "ABCA1(NM_005502.4):c.4465-415G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949143" "0" "10" "9" "107575281" "107575281" "subst" "0" "02330" "ABCA1_000828" "g.107575281G>T" "" "" "" "ABCA1(NM_005502.4):c.3902-278C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949144" "0" "30" "9" "107576648" "107576648" "subst" "0" "02330" "ABCA1_000829" "g.107576648A>G" "" "" "" "ABCA1(NM_005502.4):c.3787+60T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949145" "0" "10" "9" "107576822" "107576822" "subst" "0" "02330" "ABCA1_000830" "g.107576822G>A" "" "" "" "ABCA1(NM_005502.4):c.3739-66C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949146" "0" "30" "9" "107578592" "107578592" "subst" "4.06088E-6" "02330" "ABCA1_000831" "g.107578592A>G" "" "" "" "ABCA1(NM_005502.4):c.3570T>C (p.H1190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949147" "0" "30" "9" "107583954" "107583954" "subst" "0" "02330" "ABCA1_000832" "g.107583954G>A" "" "" "" "ABCA1(NM_005502.4):c.2829-167C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949148" "0" "30" "9" "107584952" "107584953" "del" "0" "02330" "ABCA1_000833" "g.107584952_107584953del" "" "" "" "ABCA1(NM_005502.4):c.2657-3_2657-2delCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949149" "0" "50" "9" "107586834" "107586834" "subst" "0" "02330" "ABCA1_000834" "g.107586834C>G" "" "" "" "ABCA1(NM_005502.4):c.2568G>C (p.W856C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949150" "0" "50" "9" "107588129" "107588129" "subst" "0" "02330" "ABCA1_000835" "g.107588129A>T" "" "" "" "ABCA1(NM_005502.4):c.2377T>A (p.Y793N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949151" "0" "30" "9" "107588476" "107588476" "subst" "0" "02330" "ABCA1_000836" "g.107588476A>C" "" "" "" "ABCA1(NM_005502.4):c.2338-308T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949152" "0" "10" "9" "107589710" "107589710" "subst" "0" "02330" "ABCA1_000837" "g.107589710C>T" "" "" "" "ABCA1(NM_005502.4):c.2116-260G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949153" "0" "30" "9" "107591179" "107591179" "subst" "8.17047E-6" "02330" "ABCA1_000838" "g.107591179C>T" "" "" "" "ABCA1(NM_005502.4):c.2115+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949154" "0" "30" "9" "107593399" "107593399" "subst" "8.19336E-6" "02330" "ABCA1_000839" "g.107593399G>A" "" "" "" "ABCA1(NM_005502.4):c.1716-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949155" "0" "50" "9" "107594980" "107594980" "subst" "0" "02330" "ABCA1_000840" "g.107594980C>T" "" "" "" "ABCA1(NM_005502.4):c.1384G>A (p.D462N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949156" "0" "30" "9" "107599778" "107599778" "subst" "0.000142167" "02330" "ABCA1_000841" "g.107599778C>G" "" "" "" "ABCA1(NM_005502.4):c.1125G>C (p.L375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949157" "0" "50" "9" "107599840" "107599840" "subst" "0" "02330" "ABCA1_000842" "g.107599840A>C" "" "" "" "ABCA1(NM_005502.4):c.1063T>G (p.C355G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949158" "0" "30" "9" "107602568" "107602568" "subst" "0" "02330" "ABCA1_000843" "g.107602568T>C" "" "" "" "ABCA1(NM_005502.4):c.1046A>G (p.N349S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949159" "0" "10" "9" "107607420" "107607420" "subst" "0" "02330" "ABCA1_000844" "g.107607420G>C" "" "" "" "ABCA1(NM_005502.4):c.813+338C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949160" "0" "30" "9" "107620863" "107620863" "subst" "0" "02330" "ABCA1_000845" "g.107620863C>T" "" "" "" "ABCA1(NM_005502.4):c.660G>A (p.E220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949161" "0" "10" "9" "107623653" "107623653" "subst" "0" "02330" "ABCA1_000846" "g.107623653T>A" "" "" "" "ABCA1(NM_005502.4):c.543+307A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949162" "0" "10" "9" "107623807" "107623807" "subst" "0" "02330" "ABCA1_000847" "g.107623807G>C" "" "" "" "ABCA1(NM_005502.4):c.543+153C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949163" "0" "10" "9" "107645210" "107645210" "subst" "0" "02330" "ABCA1_000848" "g.107645210C>T" "" "" "" "ABCA1(NM_005502.4):c.421+110G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949164" "0" "10" "9" "107645477" "107645477" "subst" "0.0217708" "02330" "ABCA1_000849" "g.107645477G>T" "" "" "" "ABCA1(NM_005502.4):c.303-39C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949165" "0" "10" "9" "107645906" "107645906" "subst" "0" "02330" "ABCA1_000850" "g.107645906C>G" "" "" "" "ABCA1(NM_005502.4):c.303-468G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949166" "0" "50" "9" "107651232" "107651232" "subst" "0" "02330" "ABCA1_000851" "g.107651232T>C" "" "" "" "ABCA1(NM_005502.4):c.160+151A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949167" "0" "10" "9" "107651327" "107651327" "subst" "0" "02330" "ABCA1_000852" "g.107651327T>C" "" "" "" "ABCA1(NM_005502.4):c.160+56A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949168" "0" "50" "9" "107665980" "107665980" "subst" "0" "02330" "ABCA1_000853" "g.107665980C>A" "" "" "" "ABCA1(NM_005502.4):c.-20G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965106" "0" "30" "9" "107547770" "107547770" "subst" "3.25486E-5" "02330" "ABCA1_000854" "g.107547770T>C" "" "" "" "ABCA1(NM_005502.4):c.6552A>G (p.L2184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965107" "0" "50" "9" "107550298" "107550298" "subst" "4.06279E-6" "02330" "ABCA1_000855" "g.107550298T>A" "" "" "" "ABCA1(NM_005502.4):c.6107A>T (p.K2036M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965108" "0" "30" "9" "107550303" "107550303" "subst" "6.09731E-5" "02330" "ABCA1_000856" "g.107550303G>A" "" "" "" "ABCA1(NM_005502.4):c.6102C>T (p.L2034=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965109" "0" "10" "9" "107554274" "107554274" "subst" "0.0086922" "02329" "ABCA1_000155" "g.107554274A>G" "" "" "" "ABCA1(NM_005502.4):c.5763T>C (p.Y1921=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000965111" "0" "50" "9" "107558377" "107558377" "subst" "0" "02330" "ABCA1_000857" "g.107558377T>C" "" "" "" "ABCA1(NM_005502.4):c.5339A>G (p.N1780S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965113" "0" "30" "9" "107558430" "107558430" "subst" "4.06398E-6" "02330" "ABCA1_000858" "g.107558430G>T" "" "" "" "ABCA1(NM_005502.4):c.5286C>A (p.I1762=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965114" "0" "50" "9" "107562805" "107562805" "subst" "1.21857E-5" "02330" "ABCA1_000859" "g.107562805T>G" "" "" "" "ABCA1(NM_005502.4):c.4759A>C (p.K1587Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965115" "0" "10" "9" "107568546" "107568546" "subst" "0.00568791" "02329" "ABCA1_000185" "g.107568546C>A" "" "" "" "ABCA1(NM_005502.4):c.4440G>T (p.G1480=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000965116" "0" "30" "9" "107568711" "107568711" "subst" "0" "02330" "ABCA1_000860" "g.107568711T>C" "" "" "" "ABCA1(NM_005502.4):c.4275A>G (p.P1425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965117" "0" "30" "9" "107573149" "107573149" "subst" "8.12189E-6" "02330" "ABCA1_000861" "g.107573149T>C" "" "" "" "ABCA1(NM_005502.4):c.4107A>G (p.P1369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965118" "0" "30" "9" "107574930" "107574930" "subst" "2.43643E-5" "02330" "ABCA1_000862" "g.107574930T>C" "" "" "" "ABCA1(NM_005502.4):c.3975A>G (p.T1325=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965119" "0" "50" "9" "107576512" "107576512" "subst" "0" "02330" "ABCA1_000863" "g.107576512T>C" "" "" "" "ABCA1(NM_005502.4):c.3788A>G (p.D1263G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965120" "0" "10" "9" "107578478" "107578478" "subst" "0.0141716" "02329" "ABCA1_000198" "g.107578478C>T" "" "" "" "ABCA1(NM_005502.4):c.3684G>A (p.R1228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000965121" "0" "10" "9" "107583748" "107583748" "subst" "0.0025711" "02329" "ABCA1_000087" "g.107583748G>A" "" "" "" "ABCA1(NM_005502.4):c.2868C>T (p.T956=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000965122" "0" "30" "9" "107591296" "107591296" "subst" "0" "02330" "ABCA1_000864" "g.107591296C>T" "" "" "" "ABCA1(NM_005502.4):c.2016G>A (p.R672=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965124" "0" "30" "9" "107599339" "107599339" "subst" "0" "02330" "ABCA1_000865" "g.107599339A>G" "" "" "" "ABCA1(NM_005502.4):c.1233T>C (p.D411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965125" "0" "50" "9" "107645389" "107645389" "subst" "4.06134E-6" "02330" "ABCA1_000866" "g.107645389T>C" "" "" "" "ABCA1(NM_005502.4):c.352A>G (p.K118E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978328" "0" "50" "9" "107546619" "107546619" "del" "0" "02330" "ABCA1_000867" "g.107546619del" "" "" "" "ABCA1(NM_005502.4):c.6765delA (p.V2256*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978329" "0" "90" "9" "107547892" "107547892" "subst" "4.07428E-6" "02330" "ABCA1_000868" "g.107547892G>A" "" "" "" "ABCA1(NM_005502.4):c.6430C>T (p.R2144*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978330" "0" "30" "9" "107548687" "107548688" "del" "0" "02330" "ABCA1_000869" "g.107548687_107548688del" "" "" "" "ABCA1(NM_005502.4):c.6309-16_6309-15delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978331" "0" "30" "9" "107574836" "107574836" "subst" "1.62562E-5" "02330" "ABCA1_000870" "g.107574836C>T" "" "" "" "ABCA1(NM_005502.4):c.4050+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978332" "0" "50" "9" "107579640" "107579640" "subst" "4.06098E-6" "02330" "ABCA1_000871" "g.107579640C>T" "" "" "" "ABCA1(NM_005502.4):c.3508G>A (p.D1170N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978333" "0" "50" "9" "107586801" "107586801" "subst" "8.52896E-5" "02330" "ABCA1_000872" "g.107586801G>A" "" "" "" "ABCA1(NM_005502.4):c.2601C>T (p.G867=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978334" "0" "30" "9" "107591194" "107591194" "subst" "0" "02330" "ABCA1_000873" "g.107591194T>C" "" "" "" "ABCA1(NM_005502.4):c.2115+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978335" "0" "50" "9" "107591367" "107591367" "subst" "4.06187E-6" "02330" "ABCA1_000874" "g.107591367T>A" "" "" "" "ABCA1(NM_005502.4):c.1945A>T (p.I649F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978336" "0" "30" "9" "107599692" "107599692" "subst" "0" "02330" "ABCA1_000875" "g.107599692G>C" "" "" "" "ABCA1(NM_005502.4):c.1194+17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978337" "0" "50" "9" "107602721" "107602721" "subst" "0" "02330" "ABCA1_000876" "g.107602721G>A" "" "" "" "ABCA1(NM_005502.4):c.893C>T (p.T298I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978338" "0" "50" "9" "107645408" "107645408" "subst" "1.21861E-5" "02330" "ABCA1_000877" "g.107645408C>A" "" "" "" "ABCA1(NM_005502.4):c.333G>T (p.R111S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987150" "0" "70" "9" "107581983" "107581984" "ins" "0" "00006" "ABCA1_000879" "g.107581983_107581984insTTC" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.104819702_104819703insTTC" "" "likely pathogenic" "ACMG" "0000987326" "0" "70" "9" "107564367" "107564367" "del" "0" "00006" "ABCA1_000878" "g.107564367del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "no variant 2nd chromosome, case unsolved" "Germline" "" "" "0" "" "" "g.104802086del" "" "likely pathogenic" "ACMG" "0000987334" "0" "70" "9" "107623962" "107624083" "del" "0" "00006" "ABCA1_000880" "g.107623962_107624083del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "no variant 2nd chromosome, case unsolved" "Germline" "" "" "0" "" "" "g.104861681_104861802del" "" "likely pathogenic" "ACMG" "0000997405" "0" "50" "9" "107546699" "107546699" "subst" "0" "02330" "ABCA1_000881" "g.107546699T>C" "" "" "" "ABCA1(NM_005502.4):c.6683A>G (p.D2228G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997406" "0" "30" "9" "107547806" "107547806" "subst" "0" "02330" "ABCA1_000882" "g.107547806G>A" "" "" "" "ABCA1(NM_005502.4):c.6516C>T (p.H2172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997407" "0" "50" "9" "107555504" "107555504" "subst" "0" "02330" "ABCA1_000883" "g.107555504C>A" "" "" "" "ABCA1(NM_005502.4):c.5584G>T (p.V1862L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997408" "0" "50" "9" "107562875" "107562875" "subst" "0" "02330" "ABCA1_000884" "g.107562875A>G" "" "" "" "ABCA1(NM_005502.4):c.4699-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997409" "0" "90" "9" "107565580" "107565580" "subst" "0" "02330" "ABCA1_000885" "g.107565580C>T" "" "" "" "ABCA1(NM_005502.4):c.4577G>A (p.W1526*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000997410" "0" "30" "9" "107568669" "107568669" "subst" "0" "02330" "ABCA1_000886" "g.107568669G>A" "" "" "" "ABCA1(NM_005502.4):c.4317C>T (p.A1439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997411" "0" "30" "9" "107568708" "107568708" "subst" "8.13187E-6" "02330" "ABCA1_000887" "g.107568708G>A" "" "" "" "ABCA1(NM_005502.4):c.4278C>T (p.D1426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997412" "0" "30" "9" "107574837" "107574837" "subst" "0" "02330" "ABCA1_000888" "g.107574837G>A" "" "" "" "ABCA1(NM_005502.4):c.4050+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997414" "0" "50" "9" "107576732" "107576732" "subst" "0.000227411" "02330" "ABCA1_000054" "g.107576732T>G" "" "" "" "ABCA1(NM_005502.4):c.3763A>C (p.S1255R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997416" "0" "70" "9" "107581873" "107581873" "subst" "0" "02330" "ABCA1_000889" "g.107581873G>A" "" "" "" "ABCA1(NM_005502.4):c.3235C>T (p.R1079*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000997417" "0" "30" "9" "107582013" "107582013" "subst" "0" "02330" "ABCA1_000890" "g.107582013A>C" "" "" "" "ABCA1(NM_005502.4):c.3104-9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997418" "0" "50" "9" "107593967" "107593967" "subst" "1.62452E-5" "02330" "ABCA1_000891" "g.107593967G>C" "" "" "" "ABCA1(NM_005502.4):c.1651C>G (p.H551D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997419" "0" "50" "9" "107594126" "107594126" "subst" "0" "02330" "ABCA1_000892" "g.107594126T>G" "" "" "" "ABCA1(NM_005502.4):c.1510-18A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997420" "0" "50" "9" "107595036" "107595036" "subst" "0" "02330" "ABCA1_000893" "g.107595036C>T" "" "" "" "ABCA1(NM_005502.4):c.1328G>A (p.R443K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997421" "0" "50" "9" "107599320" "107599320" "subst" "4.06144E-6" "01804" "ABCA1_000894" "g.107599320C>T" "" "" "" "ABCA1(NM_005502.3):c.1252G>A (p.(Glu418Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997422" "0" "90" "9" "107599708" "107599708" "subst" "0" "02330" "ABCA1_000895" "g.107599708C>T" "" "" "" "ABCA1(NM_005502.4):c.1194+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000997423" "0" "50" "9" "107602631" "107602631" "subst" "0" "02330" "ABCA1_000896" "g.107602631T>C" "" "" "" "ABCA1(NM_005502.4):c.983A>G (p.N328S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997424" "0" "50" "9" "107620871" "107620871" "subst" "4.06072E-6" "02330" "ABCA1_000897" "g.107620871G>A" "" "" "" "ABCA1(NM_005502.4):c.652C>T (p.P218S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997425" "0" "30" "9" "107645449" "107645449" "subst" "0" "02330" "ABCA1_000898" "g.107645449T>C" "" "" "" "ABCA1(NM_005502.4):c.303-11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014471" "0" "50" "9" "107546648" "107546648" "subst" "0" "02330" "ABCA1_000899" "g.107546648G>C" "" "" "" "ABCA1(NM_005502.4):c.6734C>G (p.A2245G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014472" "0" "30" "9" "107546698" "107546698" "subst" "1.62627E-5" "02330" "ABCA1_000900" "g.107546698G>A" "" "" "" "ABCA1(NM_005502.4):c.6684C>T (p.D2228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014473" "0" "10" "9" "107547872" "107547872" "subst" "0.00298692" "02329" "ABCA1_000063" "g.107547872C>T" "" "" "" "ABCA1(NM_005502.4):c.6450G>A (p.P2150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014474" "0" "50" "9" "107553260" "107553260" "subst" "4.06392E-6" "02330" "ABCA1_000901" "g.107553260T>G" "" "" "" "ABCA1(NM_005502.4):c.5870A>C (p.K1957T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014475" "0" "50" "9" "107556672" "107556672" "subst" "2.84382E-5" "02330" "ABCA1_000902" "g.107556672C>A" "" "" "" "ABCA1(NM_005502.4):c.5502G>T (p.R1834S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014476" "0" "50" "9" "107558434" "107558434" "subst" "8.1279E-6" "02330" "ABCA1_000903" "g.107558434T>G" "" "" "" "ABCA1(NM_005502.4):c.5282A>C (p.K1761T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014477" "0" "30" "9" "107566948" "107566948" "subst" "0" "02330" "ABCA1_000904" "g.107566948C>A" "" "" "" "ABCA1(NM_005502.4):c.4518G>T (p.S1506=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014478" "0" "10" "9" "107574960" "107574960" "subst" "0.00562386" "02329" "ABCA1_000193" "g.107574960C>T" "" "" "" "ABCA1(NM_005502.4):c.3945G>A (p.G1315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014479" "0" "50" "9" "107576482" "107576482" "subst" "3.24934E-5" "02330" "ABCA1_000905" "g.107576482C>T" "" "" "" "ABCA1(NM_005502.4):c.3818G>A (p.R1273Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014480" "0" "30" "9" "107576718" "107576718" "subst" "0" "02330" "ABCA1_000906" "g.107576718A>G" "" "" "" "ABCA1(NM_005502.4):c.3777T>C (p.A1259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014481" "0" "10" "9" "107581042" "107581042" "subst" "0.0099814" "02329" "ABCA1_000204" "g.107581042G>A" "" "" "" "ABCA1(NM_005502.4):c.3364C>T (p.L1122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014482" "0" "30" "9" "107581183" "107581195" "del" "0" "02330" "ABCA1_000907" "g.107581183_107581195del" "" "" "" "ABCA1(NM_005502.4):c.3242-28_3242-16delCCCACATCCTTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014483" "0" "50" "9" "107581905" "107581905" "subst" "0" "02330" "ABCA1_000908" "g.107581905C>A" "" "" "" "ABCA1(NM_005502.4):c.3203G>T (p.R1068L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014484" "0" "50" "9" "107587997" "107587997" "subst" "2.03056E-5" "02325" "ABCA1_000787" "g.107587997C>A" "" "" "" "ABCA1(NM_005502.4):c.2509G>T (p.V837L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014485" "0" "50" "9" "107591382" "107591382" "subst" "0" "02330" "ABCA1_000909" "g.107591382T>C" "" "" "" "ABCA1(NM_005502.4):c.1930A>G (p.M644V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014486" "0" "50" "9" "107594026" "107594026" "subst" "0" "02330" "ABCA1_000910" "g.107594026T>C" "" "" "" "ABCA1(NM_005502.4):c.1592A>G (p.K531R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014487" "0" "50" "9" "107602560" "107602560" "subst" "0" "02330" "ABCA1_000911" "g.107602560T>A" "" "" "" "ABCA1(NM_005502.4):c.1054A>T (p.T352S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014488" "0" "50" "9" "107602607" "107602607" "subst" "0" "02330" "ABCA1_000912" "g.107602607C>T" "" "" "" "ABCA1(NM_005502.4):c.1007G>A (p.G336D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014489" "0" "70" "9" "107620867" "107620867" "del" "0" "02330" "ABCA1_000913" "g.107620867del" "" "" "" "ABCA1(NM_005502.4):c.658delG (p.E220Rfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025558" "0" "30" "9" "107546614" "107546614" "subst" "9.75499E-5" "02330" "ABCA1_000914" "g.107546614C>T" "" "" "" "ABCA1(NM_005502.4):c.6768G>A (p.V2256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025559" "0" "50" "9" "107547835" "107547835" "subst" "0" "02330" "ABCA1_000915" "g.107547835A>T" "" "" "" "ABCA1(NM_005502.4):c.6487T>A (p.F2163I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025560" "0" "30" "9" "107547934" "107547934" "subst" "0" "02330" "ABCA1_000916" "g.107547934A>T" "" "" "" "ABCA1(NM_005502.4):c.6402-14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025561" "0" "50" "9" "107548684" "107548684" "subst" "0" "02330" "ABCA1_000917" "g.107548684A>T" "" "" "" "ABCA1(NM_005502.4):c.6309-13T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025562" "0" "50" "9" "107578489" "107578489" "subst" "0" "02330" "ABCA1_000918" "g.107578489T>G" "" "" "" "ABCA1(NM_005502.4):c.3673A>C (p.I1225L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025563" "0" "50" "9" "107579626" "107579626" "subst" "0" "02330" "ABCA1_000919" "g.107579626G>C" "" "" "" "ABCA1(NM_005502.4):c.3522C>G (p.D1174E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025564" "0" "30" "9" "107584857" "107584857" "subst" "4.8729E-5" "02330" "ABCA1_000920" "g.107584857G>A" "" "" "" "ABCA1(NM_005502.4):c.2748C>T (p.V916=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025565" "0" "30" "9" "107586862" "107586862" "subst" "0.00037788" "02330" "ABCA1_000921" "g.107586862G>A" "" "" "" "ABCA1(NM_005502.4):c.2543-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025566" "0" "50" "9" "107589417" "107589417" "subst" "2.03082E-5" "02330" "ABCA1_000922" "g.107589417C>T" "" "" "" "ABCA1(NM_005502.4):c.2149G>A (p.V717M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025567" "0" "30" "9" "107591398" "107591398" "subst" "0" "02330" "ABCA1_000923" "g.107591398C>G" "" "" "" "ABCA1(NM_005502.4):c.1914G>C (p.R638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025568" "0" "50" "9" "107599387" "107599387" "subst" "0" "02330" "ABCA1_000924" "g.107599387G>C" "" "" "" "ABCA1(NM_005502.4):c.1195-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025569" "0" "30" "9" "107620908" "107620908" "subst" "4.06075E-6" "02330" "ABCA1_000925" "g.107620908T>C" "" "" "" "ABCA1(NM_005502.4):c.615A>G (p.Q205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025570" "0" "50" "9" "107651416" "107651416" "subst" "0" "02330" "ABCA1_000926" "g.107651416G>A" "" "" "" "ABCA1(NM_005502.4):c.127C>T (p.R43W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029760" "0" "30" "9" "107562195" "107562195" "subst" "0" "03779" "ABCA1_000927" "g.107562195G>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0001037119" "0" "50" "9" "107546660" "107546660" "subst" "4.06471E-6" "02330" "ABCA1_000928" "g.107546660A>G" "" "" "" "ABCA1(NM_005502.4):c.6722T>C (p.V2241A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037120" "0" "50" "9" "107555525" "107555525" "subst" "0" "02330" "ABCA1_000929" "g.107555525C>A" "" "" "" "ABCA1(NM_005502.4):c.5563G>T (p.A1855S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037121" "0" "50" "9" "107588172" "107588173" "del" "0" "02330" "ABCA1_000930" "g.107588172_107588173del" "" "" "" "ABCA1(NM_005502.4):c.2338-3_2338-2delCA" "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 ABCA1 ## Count = 1144 "{{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}}" "0000001337" "00000207" "70" "1496" "0" "1496" "0" "c.1496C>G" "r.(1496c>g)" "p.(Ser499Cys)" "12" "0000020523" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020524" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020525" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020526" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020527" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020528" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020529" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020530" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020531" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020532" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020533" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020534" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020535" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020536" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020537" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020538" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020539" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020540" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020541" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020542" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020543" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020544" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020545" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020546" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020547" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020548" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020549" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020550" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020551" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020552" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020553" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000020554" "00000207" "55" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "35" "0000075213" "00000207" "00" "6588" "0" "6588" "0" "c.6588G>C" "r.(?)" "p.(Gln2196His)" "49" "0000075214" "00000207" "00" "6397" "0" "6397" "0" "c.6397A>T" "r.(?)" "p.(Asn2133Tyr)" "48" "0000075215" "00000207" "00" "6184" "0" "6184" "0" "c.6184G>A" "r.(?)" "p.(Gly2062Arg)" "46" "0000075216" "00000207" "00" "5953" "0" "5953" "0" "c.5953C>T" "r.(?)" "p.(His1985Tyr)" "45" "0000075217" "00000207" "00" "5774" "0" "5774" "0" "c.5774G>A" "r.(?)" "p.(Arg1925Gln)" "43" "0000075218" "00000207" "00" "5774" "0" "5774" "0" "c.5774G>A" "r.(?)" "p.(Arg1925Gln)" "43" "0000075219" "00000207" "00" "5774" "0" "5774" "0" "c.5774G>A" "r.(?)" "p.(Arg1925Gln)" "43" "0000075220" "00000207" "00" "5774" "0" "5774" "0" "c.5774G>A" "r.(?)" "p.(Arg1925Gln)" "43" "0000075221" "00000207" "00" "5774" "0" "5774" "0" "c.5774G>A" "r.(?)" "p.(Arg1925Gln)" "43" "0000075222" "00000207" "00" "5774" "0" "5774" "0" "c.5774G>A" "r.(?)" "p.(Arg1925Gln)" "43" "0000075223" "00000207" "00" "5774" "0" "5774" "0" "c.5774G>A" "r.(?)" "p.(Arg1925Gln)" "43" "0000075224" "00000207" "00" "5774" "0" "5774" "0" "c.5774G>A" "r.(?)" "p.(Arg1925Gln)" "43" "0000075225" "00000207" "00" "5552" "0" "5552" "0" "c.5552G>A" "r.(?)" "p.(Arg1851Gln)" "41" "0000075226" "00000207" "00" "5537" "0" "5537" "0" "c.5537G>T" "r.(?)" "p.(Trp1846Leu)" "41" "0000075227" "00000207" "00" "5518" "0" "5518" "0" "c.5518T>C" "r.(?)" "p.(Phe1840Leu)" "41" "0000075228" "00000207" "00" "5398" "0" "5398" "0" "c.5398A>C" "r.(?)" "p.(Asn1800His)" "40" "0000075229" "00000207" "00" "5398" "0" "5398" "0" "c.5398A>C" "r.(?)" "p.(Asn1800His)" "40" "0000075230" "00000207" "00" "5398" "0" "5398" "0" "c.5398A>C" "r.(?)" "p.(Asn1800His)" "40" "0000075231" "00000207" "00" "5266" "0" "5266" "0" "c.5266G>A" "r.(?)" "p.(Ala1756Thr)" "39" "0000075232" "00000207" "00" "5039" "0" "5039" "0" "c.5039G>A" "r.(?)" "p.(Arg1680Gln)" "37" "0000075233" "00000207" "00" "5039" "0" "5039" "0" "c.5039G>A" "r.(?)" "p.(Arg1680Gln)" "37" "0000075234" "00000207" "00" "5020" "0" "5020" "0" "c.5020G>A" "r.(?)" "p.(Val1674Ile)" "37" "0000075235" "00000207" "00" "5020" "0" "5020" "0" "c.5020G>A" "r.(?)" "p.(Val1674Ile)" "37" "0000075236" "00000207" "00" "3757" "0" "3757" "0" "c.3757G>A" "r.(?)" "p.(Glu1253Lys)" "26" "0000075237" "00000207" "00" "3554" "0" "3554" "0" "c.3554A>G" "r.(?)" "p.(Asn1185Ser)" "25" "0000075238" "00000207" "00" "3544" "0" "3544" "0" "c.3544G>A" "r.(?)" "p.(Ala1182Thr)" "25" "0000075239" "00000207" "00" "3544" "0" "3544" "0" "c.3544G>A" "r.(?)" "p.(Ala1182Thr)" "25" "0000075240" "00000207" "00" "3544" "0" "3544" "0" "c.3544G>A" "r.(?)" "p.(Ala1182Thr)" "25" "0000075241" "00000207" "00" "3544" "0" "3544" "0" "c.3544G>A" "r.(?)" "p.(Ala1182Thr)" "25" "0000075242" "00000207" "00" "3542" "0" "3542" "0" "c.3542C>T" "r.(?)" "p.(Ser1181Phe)" "25" "0000075243" "00000207" "00" "3542" "0" "3542" "0" "c.3542C>T" "r.(?)" "p.(Ser1181Phe)" "25" "0000075244" "00000207" "00" "3542" "0" "3542" "0" "c.3542C>T" "r.(?)" "p.(Ser1181Phe)" "25" "0000075245" "00000207" "00" "3542" "0" "3542" "0" "c.3542C>T" "r.(?)" "p.(Ser1181Phe)" "25" "0000075246" "00000207" "00" "3542" "0" "3542" "0" "c.3542C>T" "r.(?)" "p.(Ser1181Phe)" "25" "0000075247" "00000207" "00" "3542" "0" "3542" "0" "c.3542C>T" "r.(?)" "p.(Ser1181Phe)" "25" "0000075248" "00000207" "00" "3470" "0" "3470" "0" "c.3470G>A" "r.(?)" "p.(Ser1157Asn)" "24" "0000075249" "00000207" "00" "3053" "0" "3053" "0" "c.3053A>G" "r.(?)" "p.(Asp1018Gly)" "21" "0000075250" "00000207" "00" "2328" "0" "2328" "0" "c.2328G>C" "r.(?)" "p.(Lys776Asn)" "16" "0000075251" "00000207" "00" "2328" "0" "2328" "0" "c.2328G>C" "r.(?)" "p.(Lys776Asn)" "16" "0000075252" "00000207" "00" "2328" "0" "2328" "0" "c.2328G>C" "r.(?)" "p.(Lys776Asn)" "16" "0000075253" "00000207" "00" "2328" "0" "2328" "0" "c.2328G>C" "r.(?)" "p.(Lys776Asn)" "16" "0000075254" "00000207" "00" "2328" "0" "2328" "0" "c.2328G>C" "r.(?)" "p.(Lys776Asn)" "16" "0000075255" "00000207" "00" "2328" "0" "2328" "0" "c.2328G>C" "r.(?)" "p.(Lys776Asn)" "16" "0000075256" "00000207" "00" "2328" "0" "2328" "0" "c.2328G>C" "r.(?)" "p.(Lys776Asn)" "16" "0000075257" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075258" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075259" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075260" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075261" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075262" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075263" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075264" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075265" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075266" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075267" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075268" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075269" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075270" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075271" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075272" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075273" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075274" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075275" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075276" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075277" "00000207" "00" "1922" "0" "1922" "0" "c.1922C>T" "r.(?)" "p.(Pro641Leu)" "15" "0000075278" "00000207" "00" "1780" "0" "1780" "0" "c.1780G>A" "r.(?)" "p.(Ala594Thr)" "14" "0000075279" "00000207" "00" "1748" "0" "1748" "0" "c.1748T>C" "r.(?)" "p.(Phe583Ser)" "14" "0000075280" "00000207" "00" "1486" "0" "1486" "0" "c.1486C>T" "r.(?)" "p.(Arg496Trp)" "12" "0000075281" "00000207" "00" "1486" "0" "1486" "0" "c.1486C>T" "r.(?)" "p.(Arg496Trp)" "12" "0000075282" "00000207" "00" "1486" "0" "1486" "0" "c.1486C>T" "r.(?)" "p.(Arg496Trp)" "12" "0000075283" "00000207" "00" "1338" "0" "1338" "0" "c.1338C>G" "r.(?)" "p.(Asp446Glu)" "12" "0000075284" "00000207" "00" "1338" "0" "1338" "0" "c.1338C>G" "r.(?)" "p.(Asp446Glu)" "12" "0000075285" "00000207" "00" "1291" "0" "1291" "0" "c.1291C>G" "r.(?)" "p.(Gln431Glu)" "11" "0000075286" "00000207" "00" "1276" "0" "1276" "0" "c.1276T>C" "r.(?)" "p.(Phe426Leu)" "11" "0000075287" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075288" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075289" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075290" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075291" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075292" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075293" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075294" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075295" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075296" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075297" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075298" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075299" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075300" "00000207" "00" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "10" "0000075301" "00000207" "00" "1028" "0" "1028" "0" "c.1028C>T" "r.(?)" "p.(Ala343Val)" "9" "0000075302" "00000207" "00" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Pro250Leu)" "8" "0000075303" "00000207" "00" "497" "0" "497" "0" "c.497A>G" "r.(?)" "p.(Lys166Arg)" "6" "0000075304" "00000207" "00" "467" "0" "467" "0" "c.467G>T" "r.(?)" "p.(Gly156Val)" "6" "0000075305" "00000207" "00" "400" "0" "400" "0" "c.400C>G" "r.(?)" "p.(Gln134Glu)" "5" "0000075306" "00000207" "00" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Pro85Leu)" "4" "0000075307" "00000207" "00" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Pro85Leu)" "4" "0000075308" "00000207" "00" "6730" "0" "6730" "0" "c.6730G>A" "r.(?)" "p.(Val2244Ile)" "50" "0000075309" "00000207" "00" "6518" "0" "6518" "0" "c.6518G>A" "r.(?)" "p.(Arg2173Gln)" "49" "0000075310" "00000207" "00" "5774" "0" "5774" "0" "c.5774G>A" "r.(?)" "p.(Arg1925Gln)" "43" "0000075311" "00000207" "00" "5774" "0" "5774" "0" "c.5774G>A" "r.(?)" "p.(Arg1925Gln)" "43" "0000075312" "00000207" "00" "5774" "0" "5774" "0" "c.5774G>A" "r.(?)" "p.(Arg1925Gln)" "43" "0000075313" "00000207" "00" "5392" "0" "5392" "0" "c.5392A>G" "r.(?)" "p.(Asn1798Asp)" "40" "0000075314" "00000207" "00" "4993" "0" "4993" "0" "c.4993A>G" "r.(?)" "p.(Met1665Val)" "37" "0000075315" "00000207" "00" "4493" "0" "4493" "0" "c.4493A>G" "r.(?)" "p.(Gln1498Arg)" "32" "0000075316" "00000207" "00" "4454" "0" "4454" "0" "c.4454C>T" "r.(?)" "p.(Pro1485Leu)" "31" "0000075317" "00000207" "00" "4037" "0" "4037" "0" "c.4037G>A" "r.(?)" "p.(Gly1346Glu)" "28" "0000075318" "00000207" "00" "4030" "0" "4030" "0" "c.4030C>T" "r.(?)" "p.(Arg1344Trp)" "28" "0000075319" "00000207" "00" "3763" "0" "3763" "0" "c.3763A>C" "r.(?)" "p.(Ser1255Arg)" "26" "0000075320" "00000207" "00" "3554" "0" "3554" "0" "c.3554A>G" "r.(?)" "p.(Asn1185Ser)" "25" "0000075321" "00000207" "00" "3515" "0" "3515" "0" "c.3515A>G" "r.(?)" "p.(Glu1172Gly)" "24" "0000075322" "00000207" "00" "3470" "0" "3470" "0" "c.3470G>A" "r.(?)" "p.(Ser1157Asn)" "24" "0000075323" "00000207" "00" "3443" "0" "3443" "0" "c.3443C>T" "r.(?)" "p.(Thr1148Ile)" "23" "0000075324" "00000207" "00" "3415" "0" "3415" "0" "c.3415C>G" "r.(?)" "p.(Leu1139Val)" "23" "0000075325" "00000207" "00" "3053" "0" "3053" "0" "c.3053A>G" "r.(?)" "p.(Asp1018Gly)" "21" "0000075326" "00000207" "00" "2995" "0" "2995" "0" "c.2995C>T" "r.(?)" "p.(Arg999Cys)" "21" "0000075327" "00000207" "00" "2660" "0" "2660" "0" "c.2660G>T" "r.(?)" "p.(Cys887Phe)" "19" "0000075328" "00000207" "00" "2444" "0" "2444" "0" "c.2444A>G" "r.(?)" "p.(Glu815Gly)" "17" "0000075329" "00000207" "00" "2377" "0" "2377" "0" "c.2377T>C" "r.(?)" "p.(Tyr793His)" "17" "0000075330" "00000207" "00" "2328" "0" "2328" "0" "c.2328G>C" "r.(?)" "p.(Lys776Asn)" "16" "0000075331" "00000207" "00" "2328" "0" "2328" "0" "c.2328G>C" "r.(?)" "p.(Lys776Asn)" "16" "0000075332" "00000207" "00" "2328" "0" "2328" "0" "c.2328G>C" "r.(?)" "p.(Lys776Asn)" "16" "0000075333" "00000207" "00" "2328" "0" "2328" "0" "c.2328G>C" "r.(?)" "p.(Lys776Asn)" "16" "0000075334" "00000207" "00" "2328" "0" "2328" "0" "c.2328G>C" "r.(?)" "p.(Lys776Asn)" "16" "0000075335" "00000207" "00" "2328" "0" "2328" "0" "c.2328G>C" "r.(?)" "p.(Lys776Asn)" "16" "0000075336" "00000207" "00" "2328" "0" "2328" "0" "c.2328G>C" "r.(?)" "p.(Lys776Asn)" "16" "0000075337" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075338" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075339" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075340" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075341" "00000207" "00" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "16" "0000075342" "00000207" "00" "1978" "0" "1978" "0" "c.1978G>A" "r.(?)" "p.(Val660Met)" "15" "0000075343" "00000207" "00" "1769" "0" "1769" "0" "c.1769G>T" "r.(?)" "p.(Trp590Leu)" "14" "0000075344" "00000207" "00" "1486" "0" "1486" "0" "c.1486C>T" "r.(?)" "p.(Arg496Trp)" "12" "0000075345" "00000207" "00" "1486" "0" "1486" "0" "c.1486C>T" "r.(?)" "p.(Arg496Trp)" "12" "0000075346" "00000207" "00" "1338" "0" "1338" "0" "c.1338C>G" "r.(?)" "p.(Asp446Glu)" "12" "0000075347" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075348" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075349" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075350" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075351" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075352" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075353" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075354" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075355" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075356" "00000207" "00" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "11" "0000075357" "00000207" "00" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Pro250Leu)" "8" "0000075358" "00000207" "00" "743" "0" "743" "0" "c.743C>T" "r.(?)" "p.(Pro248Leu)" "8" "0000075359" "00000207" "00" "362" "0" "362" "0" "c.362G>C" "r.(?)" "p.(Ser121Thr)" "5" "0000075360" "00000207" "00" "92" "0" "92" "0" "c.92G>T" "r.(?)" "p.(Trp31Leu)" "3" "0000246781" "00000207" "10" "5383" "-3" "5383" "-3" "c.5383-3del" "r.spl?" "p.?" "" "0000246802" "00000207" "10" "5763" "0" "5763" "0" "c.5763T>C" "r.(?)" "p.(Tyr1921=)" "" "0000246803" "00000207" "10" "5301" "0" "5301" "0" "c.5301T>C" "r.(?)" "p.(Tyr1767=)" "" "0000246804" "00000207" "10" "3159" "0" "3159" "0" "c.3159T>G" "r.(?)" "p.(Val1053=)" "" "0000246821" "00000207" "10" "886" "0" "886" "0" "c.886T>A" "r.(?)" "p.(Ser296Thr)" "" "0000246823" "00000207" "10" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "" "0000246824" "00000207" "10" "5927" "18" "5927" "18" "c.5927+18T>C" "r.(=)" "p.(=)" "" "0000246825" "00000207" "10" "4698" "7" "4698" "7" "c.4698+7T>C" "r.(=)" "p.(=)" "" "0000246826" "00000207" "10" "4592" "14" "4592" "14" "c.4592+14T>C" "r.(=)" "p.(=)" "" "0000246827" "00000207" "10" "2338" "-17" "2338" "-17" "c.2338-17T>C" "r.(=)" "p.(=)" "" "0000246828" "00000207" "10" "1055" "-7" "1055" "-7" "c.1055-7T>C" "r.(=)" "p.(=)" "" "0000246829" "00000207" "10" "720" "12" "720" "12" "c.720+12T>C" "r.(=)" "p.(=)" "" "0000246830" "00000207" "10" "720" "6" "720" "6" "c.720+6T>C" "r.(=)" "p.(=)" "" "0000246838" "00000207" "30" "2382" "0" "2382" "0" "c.2382T>C" "r.(?)" "p.(Phe794=)" "" "0000246842" "00000207" "30" "782" "0" "782" "0" "c.782T>C" "r.(?)" "p.(Leu261Ser)" "" "0000246845" "00000207" "30" "446" "0" "446" "0" "c.446T>G" "r.(?)" "p.(Val149Gly)" "" "0000246846" "00000207" "30" "4699" "-15" "4699" "-15" "c.4699-15T>A" "r.(=)" "p.(=)" "" "0000246849" "00000207" "70" "2371" "0" "2371" "0" "c.2371T>C" "r.(?)" "p.(Cys791Arg)" "" "0000246851" "00000207" "50" "2903" "0" "2903" "0" "c.2903T>C" "r.(?)" "p.(Met968Thr)" "" "0000246852" "00000207" "70" "1883" "0" "1883" "0" "c.1883T>C" "r.(?)" "p.(Val628Ala)" "" "0000246853" "00000207" "70" "4774" "-13" "4774" "-13" "c.4774-13T>A" "r.(=)" "p.(=)" "" "0000246856" "00000207" "90" "4429" "0" "4429" "0" "c.4429T>C" "r.(?)" "p.(Cys1477Arg)" "" "0000246857" "00000207" "90" "6035" "0" "6035" "0" "c.6035T>C" "r.(?)" "p.(Leu2012Pro)" "" "0000246859" "00000207" "90" "2165" "0" "2165" "0" "c.2165T>C" "r.(?)" "p.(Leu722Pro)" "" "0000253412" "00000207" "10" "5383" "-3" "5383" "-3" "c.5383-3del" "r.spl?" "p.?" "" "0000256760" "00000207" "10" "-18" "0" "-18" "0" "c.-18G>C" "r.(?)" "p.(=)" "" "0000256761" "00000207" "10" "-35" "0" "-18" "0" "c.-35_-18del" "r.(?)" "p.(=)" "" "0000256762" "00000207" "30" "6802" "0" "6802" "0" "c.*16del" "r.(?)" "p.(=)" "" "0000256763" "00000207" "30" "6805" "0" "6805" "0" "c.*19G>T" "r.(=)" "p.(=)" "" "0000256764" "00000207" "50" "1052" "0" "1052" "0" "c.1052C>A" "r.(?)" "p.(Thr351Lys)" "" "0000256765" "00000207" "70" "1108" "0" "1108" "0" "c.1108A>T" "r.(?)" "p.(Ile370Phe)" "" "0000256766" "00000207" "50" "1194" "3" "1194" "3" "c.1194+3A>G" "r.spl?" "p.?" "" "0000256767" "00000207" "10" "1195" "-13" "1195" "-13" "c.1195-13C>T" "r.(=)" "p.(=)" "" "0000256768" "00000207" "10" "1195" "-18" "1195" "-18" "c.1195-18C>T" "r.(=)" "p.(=)" "" "0000256769" "00000207" "10" "1389" "0" "1389" "0" "c.1389C>T" "r.(?)" "p.(Ile463=)" "" "0000256770" "00000207" "10" "1390" "0" "1390" "0" "c.1390G>A" "r.(?)" "p.(Val464Met)" "" "0000256771" "00000207" "10" "1467" "0" "1467" "0" "c.1467C>T" "r.(?)" "p.(Asn489=)" "" "0000256772" "00000207" "10" "1530" "0" "1530" "0" "c.1530A>G" "r.(?)" "p.(Leu510=)" "" "0000256773" "00000207" "10" "1611" "0" "1611" "0" "c.1611G>A" "r.(?)" "p.(Val537=)" "" "0000256774" "00000207" "10" "1635" "0" "1635" "0" "c.1635C>T" "r.(?)" "p.(Ser545=)" "" "0000256775" "00000207" "30" "1715" "3" "1715" "3" "c.1715+3A>G" "r.spl?" "p.?" "" "0000256776" "00000207" "70" "1769" "0" "1769" "0" "c.1769G>T" "r.(?)" "p.(Trp590Leu)" "" "0000256777" "00000207" "30" "1780" "0" "1780" "0" "c.1780G>A" "r.(?)" "p.(Ala594Thr)" "" "0000256778" "00000207" "70" "188" "0" "188" "0" "c.188C>G" "r.(?)" "p.(Ser63Cys)" "" "0000256779" "00000207" "50" "1912" "0" "1912" "0" "c.1912C>T" "r.(?)" "p.(Arg638Trp)" "" "0000256780" "00000207" "30" "1913" "0" "1913" "0" "c.1913G>A" "r.(?)" "p.(Arg638Gln)" "" "0000256781" "00000207" "10" "1977" "0" "1977" "0" "c.1977C>T" "r.(?)" "p.(Ile659=)" "" "0000256782" "00000207" "30" "1992" "0" "1992" "0" "c.1992G>A" "r.(?)" "p.(Glu664=)" "" "0000256783" "00000207" "50" "2020" "0" "2020" "0" "c.2020A>C" "r.(?)" "p.(Met674Leu)" "" "0000256784" "00000207" "10" "2040" "0" "2040" "0" "c.2040C>A" "r.(?)" "p.(Ile680=)" "" "0000256785" "00000207" "30" "2089" "0" "2089" "0" "c.2089G>A" "r.(?)" "p.(Ala697Thr)" "" "0000256786" "00000207" "30" "2116" "-16" "2116" "-16" "c.2116-16G>A" "r.(=)" "p.(=)" "" "0000256787" "00000207" "50" "2170" "0" "2170" "0" "c.2170G>A" "r.(?)" "p.(Val724Met)" "" "0000256788" "00000207" "10" "2235" "0" "2235" "0" "c.2235G>T" "r.(?)" "p.(Leu745=)" "" "0000256789" "00000207" "30" "2283" "0" "2283" "0" "c.2283C>T" "r.(?)" "p.(Tyr761=)" "" "0000256790" "00000207" "10" "2311" "0" "2311" "0" "c.2311G>A" "r.(?)" "p.(Val771Met)" "" "0000256791" "00000207" "10" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "" "0000256792" "00000207" "10" "2328" "0" "2328" "0" "c.2328G>C" "r.(?)" "p.(Lys776Asn)" "" "0000256793" "00000207" "10" "2444" "0" "2444" "0" "c.2444A>G" "r.(?)" "p.(Glu815Gly)" "" "0000256794" "00000207" "90" "2471" "0" "2471" "0" "c.2471C>T" "r.(?)" "p.(Ser824Leu)" "" "0000256795" "00000207" "10" "2472" "0" "2472" "0" "c.2472G>A" "r.(?)" "p.(Ser824=)" "" "0000256796" "00000207" "10" "2473" "0" "2473" "0" "c.2473G>A" "r.(?)" "p.(Val825Ile)" "" "0000256797" "00000207" "30" "2543" "-12" "2543" "-12" "c.2543-12C>T" "r.(=)" "p.(=)" "" "0000256798" "00000207" "70" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Pro85Leu)" "" "0000256799" "00000207" "30" "255" "0" "255" "0" "c.255G>A" "r.(?)" "p.(Pro85=)" "" "0000256800" "00000207" "50" "2602" "0" "2602" "0" "c.2602G>A" "r.(?)" "p.(Glu868Lys)" "" "0000256801" "00000207" "10" "2649" "0" "2649" "0" "c.2649A>G" "r.(?)" "p.(Ile883Met)" "" "0000256802" "00000207" "10" "2657" "-17" "2657" "-17" "c.2657-17C>G" "r.(=)" "p.(=)" "" "0000256803" "00000207" "50" "2660" "0" "2660" "0" "c.2660G>T" "r.(?)" "p.(Cys887Phe)" "" "0000256804" "00000207" "90" "2740" "0" "2740" "0" "c.2740del" "r.(?)" "p.(Val914TrpfsTer8)" "" "0000256805" "00000207" "10" "2799" "0" "2799" "0" "c.2799C>T" "r.(?)" "p.(Gly933=)" "" "0000256806" "00000207" "10" "2814" "0" "2814" "0" "c.2814G>A" "r.(?)" "p.(Gly938=)" "" "0000256807" "00000207" "70" "2824" "0" "2824" "0" "c.2824A>G" "r.(?)" "p.(Thr942Ala)" "" "0000256808" "00000207" "50" "2861" "0" "2861" "0" "c.2861C>T" "r.(?)" "p.(Ser954Leu)" "" "0000256809" "00000207" "10" "2868" "0" "2868" "0" "c.2868C>T" "r.(?)" "p.(Thr956=)" "" "0000256810" "00000207" "30" "2878" "0" "2878" "0" "c.2878C>T" "r.(?)" "p.(Leu960=)" "" "0000256811" "00000207" "10" "2946" "0" "2946" "0" "c.2946C>T" "r.(?)" "p.(Asn982=)" "" "0000256812" "00000207" "10" "2960" "18" "2960" "18" "c.2960+18G>A" "r.(=)" "p.(=)" "" "0000256813" "00000207" "10" "2961" "-10" "2961" "-10" "c.2961-10C>T" "r.(=)" "p.(=)" "" "0000256814" "00000207" "90" "2995" "0" "2995" "0" "c.2995C>G" "r.(?)" "p.(Arg999Gly)" "" "0000256815" "00000207" "30" "3036" "0" "3036" "0" "c.3036G>A" "r.(?)" "p.(Met1012Ile)" "" "0000256816" "00000207" "50" "3053" "0" "3053" "0" "c.3053A>G" "r.(?)" "p.(Asp1018Gly)" "" "0000256817" "00000207" "10" "3099" "0" "3099" "0" "c.3099G>C" "r.(?)" "p.(Leu1033=)" "" "0000256818" "00000207" "50" "3103" "3" "3103" "3" "c.3103+3G>T" "r.spl?" "p.?" "" "0000256820" "00000207" "50" "3193" "0" "3193" "0" "c.3193C>A" "r.(?)" "p.(Pro1065Thr)" "" "0000256821" "00000207" "10" "3204" "0" "3204" "0" "c.3204C>T" "r.(?)" "p.(Arg1068=)" "" "0000256822" "00000207" "10" "3364" "0" "3364" "0" "c.3364C>T" "r.(?)" "p.(Leu1122=)" "" "0000256823" "00000207" "30" "3432" "0" "3432" "0" "c.3432C>T" "r.(?)" "p.(Asn1144=)" "" "0000256824" "00000207" "30" "3515" "0" "3515" "0" "c.3515A>G" "r.(?)" "p.(Glu1172Gly)" "" "0000256825" "00000207" "10" "3516" "0" "3516" "0" "c.3516G>C" "r.(?)" "p.(Glu1172Asp)" "" "0000256826" "00000207" "70" "3542" "0" "3542" "0" "c.3542C>T" "r.(?)" "p.(Ser1181Phe)" "" "0000256827" "00000207" "30" "3544" "0" "3544" "0" "c.3544G>A" "r.(?)" "p.(Ala1182Thr)" "" "0000256828" "00000207" "10" "3554" "0" "3554" "0" "c.3554A>G" "r.(?)" "p.(Asn1185Ser)" "" "0000256829" "00000207" "50" "3584" "0" "3584" "0" "c.3584G>A" "r.(?)" "p.(Arg1195Gln)" "" "0000256830" "00000207" "10" "3633" "0" "3633" "0" "c.3633A>G" "r.(?)" "p.(Glu1211=)" "" "0000256832" "00000207" "10" "3684" "0" "3684" "0" "c.3684G>A" "r.(?)" "p.(Arg1228=)" "" "0000256833" "00000207" "10" "3726" "0" "3726" "0" "c.3726G>A" "r.(?)" "p.(Thr1242=)" "" "0000256834" "00000207" "50" "3757" "0" "3757" "0" "c.3757G>A" "r.(?)" "p.(Glu1253Lys)" "" "0000256835" "00000207" "50" "3851" "0" "3851" "0" "c.3851C>T" "r.(?)" "p.(Pro1284Leu)" "" "0000256836" "00000207" "30" "3897" "0" "3897" "0" "c.3897C>T" "r.(?)" "p.(Asp1299=)" "" "0000256837" "00000207" "30" "3944" "0" "3944" "0" "c.3944G>A" "r.(?)" "p.(Gly1315Glu)" "" "0000256838" "00000207" "10" "3945" "0" "3945" "0" "c.3945G>A" "r.(?)" "p.(Gly1315=)" "" "0000256839" "00000207" "10" "3977" "0" "3977" "0" "c.3977A>G" "r.(?)" "p.(Gln1326Arg)" "" "0000256840" "00000207" "10" "4050" "7" "4050" "7" "c.4050+7C>T" "r.(=)" "p.(=)" "" "0000256841" "00000207" "30" "4155" "0" "4155" "0" "c.4155C>T" "r.(?)" "p.(Asn1385=)" "" "0000256842" "00000207" "10" "422" "-12" "422" "-12" "c.422-12A>G" "r.(=)" "p.(=)" "" "0000256843" "00000207" "50" "4249" "0" "4249" "0" "c.4249C>T" "r.(?)" "p.(Arg1417Cys)" "" "0000256844" "00000207" "90" "4250" "0" "4250" "0" "c.4250G>A" "r.(?)" "p.(Arg1417His)" "" "0000256845" "00000207" "10" "4281" "0" "4281" "0" "c.4281G>A" "r.(?)" "p.(Thr1427=)" "" "0000256846" "00000207" "10" "4440" "0" "4440" "0" "c.4440G>T" "r.(?)" "p.(Gly1480=)" "" "0000256847" "00000207" "70" "4464" "3" "4464" "3" "c.4464+3G>A" "r.spl?" "p.?" "" "0000256848" "00000207" "10" "4536" "0" "4536" "0" "c.4536G>T" "r.(?)" "p.(Thr1512=)" "" "0000256849" "00000207" "10" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(Leu15=)" "" "0000256850" "00000207" "50" "467" "0" "467" "0" "c.467G>T" "r.(?)" "p.(Gly156Val)" "" "0000256851" "00000207" "10" "4698" "10" "4698" "10" "c.4698+10C>G" "r.(=)" "p.(=)" "" "0000256852" "00000207" "70" "4698" "0" "4698" "0" "c.4698G>C" "r.(?)" "p.(Lys1566Asn)" "" "0000256853" "00000207" "30" "4699" "-18" "4699" "-18" "c.4699-18G>C" "r.(=)" "p.(=)" "" "0000256854" "00000207" "10" "474" "0" "474" "0" "c.474G>A" "r.(?)" "p.(Leu158=)" "" "0000256855" "00000207" "10" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "" "0000256856" "00000207" "30" "4774" "-14" "4774" "-14" "c.4774-14A>G" "r.(=)" "p.(=)" "" "0000256857" "00000207" "30" "4774" "-17" "4774" "-17" "c.4774-17G>A" "r.(=)" "p.(=)" "" "0000256858" "00000207" "10" "4943" "10" "4943" "10" "c.4943+10G>T" "r.(=)" "p.(=)" "" "0000256859" "00000207" "30" "4944" "-15" "4944" "-15" "c.4944-15G>A" "r.(=)" "p.(=)" "" "0000256860" "00000207" "10" "4944" "-15" "4944" "-15" "c.4944-15G>C" "r.(=)" "p.(=)" "" "0000256861" "00000207" "10" "4963" "0" "4963" "0" "c.4963G>C" "r.(?)" "p.(Val1655Leu)" "" "0000256862" "00000207" "50" "5020" "0" "5020" "0" "c.5020G>A" "r.(?)" "p.(Val1674Ile)" "" "0000256863" "00000207" "30" "5152" "0" "5152" "0" "c.5152A>G" "r.(?)" "p.(Ile1718Val)" "" "0000256864" "00000207" "10" "5237" "12" "5237" "13" "c.5237+12_5237+13del" "r.(=)" "p.(=)" "" "0000256865" "00000207" "30" "5245" "0" "5245" "0" "c.5245A>G" "r.(?)" "p.(Ile1749Val)" "" "0000256866" "00000207" "10" "5376" "0" "5376" "0" "c.5376C>T" "r.(?)" "p.(Thr1792=)" "" "0000256872" "00000207" "10" "5383" "-4" "5383" "-3" "c.5383-4_5383-3del" "r.spl?" "p.?" "" "0000256873" "00000207" "10" "5383" "-5" "5383" "-3" "c.5383-5_5383-3dup" "r.spl?" "p.?" "" "0000256875" "00000207" "90" "5398" "0" "5398" "0" "c.5398A>C" "r.(?)" "p.(Asn1800His)" "" "0000256876" "00000207" "10" "5406" "0" "5406" "0" "c.5406C>T" "r.(?)" "p.(Ile1802=)" "" "0000256877" "00000207" "70" "5552" "0" "5552" "0" "c.5552G>A" "r.(?)" "p.(Arg1851Gln)" "" "0000256878" "00000207" "10" "5637" "-4" "5637" "-4" "c.5637-4del" "r.spl?" "p.?" "" "0000256879" "00000207" "10" "5649" "0" "5649" "0" "c.5649A>G" "r.(?)" "p.(Ala1883=)" "" "0000256880" "00000207" "30" "5757" "8" "5757" "9" "c.5757+8_5757+9del" "r.(=)" "p.(=)" "" "0000256881" "00000207" "30" "5774" "0" "5774" "0" "c.5774G>A" "r.(?)" "p.(Arg1925Gln)" "" "0000256882" "00000207" "90" "5785" "0" "5785" "0" "c.5785G>T" "r.(?)" "p.(Val1929Phe)" "" "0000256883" "00000207" "10" "6069" "19" "6069" "19" "c.6069+19A>G" "r.(=)" "p.(=)" "" "0000256884" "00000207" "50" "6083" "0" "6083" "0" "c.6083C>T" "r.(?)" "p.(Ala2028Val)" "" "0000256885" "00000207" "50" "6089" "0" "6089" "0" "c.6089G>A" "r.(?)" "p.(Arg2030Gln)" "" "0000256886" "00000207" "30" "6103" "0" "6103" "0" "c.6103G>A" "r.(?)" "p.(Val2035Met)" "" "0000256887" "00000207" "90" "6151" "0" "6151" "0" "c.6151C>T" "r.(?)" "p.(Arg2051Cys)" "" "0000256888" "00000207" "10" "6183" "0" "6183" "0" "c.6183C>T" "r.(?)" "p.(Gly2061=)" "" "0000256889" "00000207" "70" "6202" "0" "6202" "0" "c.6202C>A" "r.(?)" "p.(Leu2068Met)" "" "0000256890" "00000207" "10" "6309" "-4" "6309" "-4" "c.6309-4G>A" "r.spl?" "p.?" "" "0000256891" "00000207" "50" "6346" "0" "6346" "0" "c.6346A>G" "r.(?)" "p.(Ile2116Val)" "" "0000256892" "00000207" "10" "6401" "13" "6401" "13" "c.6401+13A>G" "r.(=)" "p.(=)" "" "0000256893" "00000207" "10" "6450" "0" "6450" "0" "c.6450G>A" "r.(?)" "p.(Pro2150=)" "" "0000256894" "00000207" "10" "6450" "0" "6450" "0" "c.6450G>T" "r.(?)" "p.(Pro2150=)" "" "0000256895" "00000207" "10" "651" "0" "651" "0" "c.651A>G" "r.(?)" "p.(Leu217=)" "" "0000256896" "00000207" "70" "6588" "0" "6588" "0" "c.6588G>C" "r.(?)" "p.(Gln2196His)" "" "0000256897" "00000207" "70" "6744" "0" "6748" "0" "c.6744_6748del" "r.(?)" "p.(Phe2250ThrfsTer3)" "" "0000256898" "00000207" "50" "689" "0" "689" "0" "c.689G>A" "r.(?)" "p.(Arg230His)" "" "0000256899" "00000207" "30" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Pro250Leu)" "" "0000256900" "00000207" "10" "813" "17" "813" "17" "c.813+17C>T" "r.(=)" "p.(=)" "" "0000256902" "00000207" "30" "814" "-6" "814" "-6" "c.814-6C>T" "r.(=)" "p.(=)" "" "0000256903" "00000207" "10" "936" "0" "936" "0" "c.936C>T" "r.(?)" "p.(Pro312=)" "" "0000256904" "00000207" "10" "948" "0" "948" "0" "c.948G>A" "r.(?)" "p.(Gly316=)" "" "0000256905" "00000207" "30" "99" "0" "99" "0" "c.99A>G" "r.(?)" "p.(Leu33=)" "" "0000258697" "00000207" "10" "2649" "0" "2649" "0" "c.2649A>G" "r.(?)" "p.(Ile883Met)" "" "0000258698" "00000207" "10" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "" "0000259840" "00000207" "70" "5507" "-2" "5507" "-2" "c.5507-2A>T" "r.spl?" "p.?" "" "0000261569" "00000207" "30" "5793" "0" "5793" "0" "c.5793G>T" "r.(?)" "p.(Arg1931Ser)" "" "0000261570" "00000207" "30" "6271" "0" "6271" "0" "c.6271G>A" "r.(?)" "p.(Val2091Ile)" "" "0000261571" "00000207" "50" "6584" "0" "6584" "0" "c.6584C>A" "r.(?)" "p.(Ser2195Tyr)" "" "0000535673" "00000207" "10" "7107" "0" "7107" "0" "c.*321del" "r.(?)" "p.(=)" "" "0000535674" "00000207" "30" "6744" "0" "6744" "0" "c.6744A>G" "r.(?)" "p.(Thr2248=)" "" "0000535675" "00000207" "50" "6730" "0" "6730" "0" "c.6730G>A" "r.(?)" "p.(Val2244Ile)" "" "0000535676" "00000207" "30" "6729" "0" "6729" "0" "c.6729C>A" "r.(?)" "p.(Asp2243Glu)" "" "0000535677" "00000207" "70" "6700" "0" "6701" "0" "c.6700_6701del" "r.(?)" "p.(Ser2234IlefsTer20)" "" "0000535678" "00000207" "30" "6646" "-19" "6646" "-19" "c.6646-19dup" "r.(=)" "p.(=)" "" "0000535679" "00000207" "10" "6646" "-165" "6646" "-165" "c.6646-165T>C" "r.(=)" "p.(=)" "" "0000535680" "00000207" "10" "6646" "-288" "6646" "-288" "c.6646-288C>T" "r.(=)" "p.(=)" "" "0000535681" "00000207" "10" "6645" "462" "6645" "462" "c.6645+462T>C" "r.(=)" "p.(=)" "" "0000535682" "00000207" "10" "6645" "460" "6645" "460" "c.6645+460C>T" "r.(=)" "p.(=)" "" "0000535683" "00000207" "10" "6645" "447" "6645" "447" "c.6645+447G>A" "r.(=)" "p.(=)" "" "0000535684" "00000207" "10" "6645" "55" "6645" "55" "c.6645+55G>C" "r.(=)" "p.(=)" "" "0000535685" "00000207" "30" "6591" "0" "6591" "0" "c.6591C>A" "r.(?)" "p.(Ser2197Arg)" "" "0000535686" "00000207" "50" "6565" "0" "6565" "0" "c.6565A>G" "r.(?)" "p.(Arg2189Gly)" "" "0000535687" "00000207" "50" "6518" "0" "6518" "0" "c.6518G>A" "r.(?)" "p.(Arg2173Gln)" "" "0000535688" "00000207" "70" "6402" "0" "6402" "0" "c.6402G>A" "r.(?)" "p.(Arg2134=)" "" "0000535689" "00000207" "30" "6402" "-112" "6402" "-112" "c.6402-112G>A" "r.(=)" "p.(=)" "" "0000535690" "00000207" "10" "6401" "329" "6401" "329" "c.6401+329A>T" "r.(=)" "p.(=)" "" "0000535691" "00000207" "10" "6401" "204" "6401" "204" "c.6401+204G>T" "r.(=)" "p.(=)" "" "0000535692" "00000207" "10" "6401" "117" "6401" "117" "c.6401+117A>G" "r.(=)" "p.(=)" "" "0000535693" "00000207" "10" "6401" "86" "6401" "86" "c.6401+86C>A" "r.(=)" "p.(=)" "" "0000535694" "00000207" "30" "6378" "0" "6378" "0" "c.6378C>T" "r.(?)" "p.(Gly2126=)" "" "0000535695" "00000207" "30" "6309" "-5" "6309" "-5" "c.6309-5C>T" "r.spl?" "p.?" "" "0000535696" "00000207" "30" "6309" "-6" "6309" "-6" "c.6309-6C>T" "r.(=)" "p.(=)" "" "0000535697" "00000207" "10" "6309" "-147" "6309" "-147" "c.6309-147T>C" "r.(=)" "p.(=)" "" "0000535698" "00000207" "30" "6308" "4" "6308" "4" "c.6308+4C>T" "r.spl?" "p.?" "" "0000535699" "00000207" "30" "6205" "-34" "6205" "-34" "c.6205-34C>T" "r.(=)" "p.(=)" "" "0000535700" "00000207" "10" "6205" "-336" "6205" "-336" "c.6205-336G>C" "r.(=)" "p.(=)" "" "0000535701" "00000207" "10" "6204" "374" "6204" "374" "c.6204+374C>T" "r.(=)" "p.(=)" "" "0000535702" "00000207" "30" "6204" "17" "6204" "17" "c.6204+17A>G" "r.(=)" "p.(=)" "" "0000535703" "00000207" "50" "6184" "0" "6184" "0" "c.6184G>A" "r.(?)" "p.(Gly2062Arg)" "" "0000535704" "00000207" "50" "6077" "0" "6077" "0" "c.6077A>G" "r.(?)" "p.(Glu2026Gly)" "" "0000535705" "00000207" "10" "6069" "68" "6069" "68" "c.6069+68T>C" "r.(=)" "p.(=)" "" "0000535706" "00000207" "10" "6069" "40" "6069" "40" "c.6069+40A>T" "r.(=)" "p.(=)" "" "0000535707" "00000207" "30" "6018" "0" "6018" "0" "c.6018C>T" "r.(?)" "p.(His2006=)" "" "0000535708" "00000207" "50" "5953" "0" "5953" "0" "c.5953C>T" "r.(?)" "p.(His1985Tyr)" "" "0000535709" "00000207" "10" "5928" "-332" "5928" "-332" "c.5928-332G>A" "r.(=)" "p.(=)" "" "0000535710" "00000207" "10" "5928" "-399" "5928" "-399" "c.5928-399T>G" "r.(=)" "p.(=)" "" "0000535711" "00000207" "10" "5927" "279" "5927" "279" "c.5927+279T>C" "r.(=)" "p.(=)" "" "0000535712" "00000207" "10" "5927" "264" "5927" "264" "c.5927+264T>C" "r.(=)" "p.(=)" "" "0000535713" "00000207" "70" "5855" "0" "5855" "0" "c.5855A>G" "r.(?)" "p.(Lys1952Arg)" "" "0000535714" "00000207" "10" "5821" "-169" "5821" "-169" "c.5821-169T>A" "r.(=)" "p.(=)" "" "0000535715" "00000207" "10" "5821" "-215" "5821" "-215" "c.5821-215T>C" "r.(=)" "p.(=)" "" "0000535716" "00000207" "10" "5820" "432" "5820" "433" "c.5820+432_5820+433insAGTGAGC" "r.(=)" "p.(=)" "" "0000535717" "00000207" "10" "5820" "148" "5820" "148" "c.5820+148G>A" "r.(=)" "p.(=)" "" "0000535718" "00000207" "70" "5813" "0" "5813" "0" "c.5813C>T" "r.(?)" "p.(Pro1938Leu)" "" "0000535719" "00000207" "30" "5758" "-17" "5758" "-17" "c.5758-17C>T" "r.(=)" "p.(=)" "" "0000535720" "00000207" "10" "5758" "-242" "5758" "-242" "c.5758-242A>G" "r.(=)" "p.(=)" "" "0000535721" "00000207" "10" "5758" "-255" "5758" "-255" "c.5758-255A>G" "r.(=)" "p.(=)" "" "0000535722" "00000207" "10" "5757" "323" "5757" "323" "c.5757+323T>C" "r.(=)" "p.(=)" "" "0000535723" "00000207" "10" "5757" "322" "5757" "322" "c.5757+322T>A" "r.(=)" "p.(=)" "" "0000535724" "00000207" "50" "5753" "0" "5753" "0" "c.5753C>T" "r.(?)" "p.(Thr1918Met)" "" "0000535725" "00000207" "30" "5736" "0" "5736" "0" "c.5736A>G" "r.(?)" "p.(Leu1912=)" "" "0000535726" "00000207" "30" "5734" "0" "5734" "0" "c.5734T>C" "r.(?)" "p.(Leu1912=)" "" "0000535727" "00000207" "30" "5636" "18" "5636" "18" "c.5636+18A>C" "r.(=)" "p.(=)" "" "0000535728" "00000207" "30" "5563" "0" "5563" "0" "c.5563G>A" "r.(?)" "p.(Ala1855Thr)" "" "0000535729" "00000207" "10" "5507" "-130" "5507" "-130" "c.5507-130G>C" "r.(=)" "p.(=)" "" "0000535730" "00000207" "10" "5506" "252" "5506" "252" "c.5506+252C>T" "r.(=)" "p.(=)" "" "0000535731" "00000207" "10" "5506" "251" "5506" "251" "c.5506+251G>T" "r.(=)" "p.(=)" "" "0000535732" "00000207" "50" "5492" "0" "5492" "0" "c.5492C>T" "r.(?)" "p.(Ala1831Val)" "" "0000535733" "00000207" "30" "5409" "0" "5409" "0" "c.5409G>A" "r.(?)" "p.(Leu1803=)" "" "0000535734" "00000207" "30" "5383" "-7" "5383" "-3" "c.5383-7_5383-3del" "r.spl?" "p.?" "" "0000535735" "00000207" "10" "5383" "-7" "5383" "-3" "c.5383-7_5383-3dup" "r.spl?" "p.?" "" "0000535736" "00000207" "10" "5383" "-6" "5383" "-3" "c.5383-6_5383-3dup" "r.spl?" "p.?" "" "0000535737" "00000207" "10" "5383" "-6" "5383" "-3" "c.5383-6_5383-3dup" "r.spl?" "p.?" "" "0000535739" "00000207" "10" "5383" "-5" "5383" "-3" "c.5383-5_5383-3dup" "r.spl?" "p.?" "" "0000535740" "00000207" "10" "5383" "-4" "5383" "-3" "c.5383-4_5383-3dup" "r.spl?" "p.?" "" "0000535741" "00000207" "10" "5383" "-4" "5383" "-3" "c.5383-4_5383-3dup" "r.spl?" "p.?" "" "0000535744" "00000207" "10" "5383" "-3" "5383" "-3" "c.5383-3dup" "r.spl?" "p.?" "" "0000535745" "00000207" "10" "5383" "-3" "5383" "-3" "c.5383-3dup" "r.spl?" "p.?" "" "0000535747" "00000207" "10" "5383" "-386" "5383" "-386" "c.5383-386A>G" "r.(=)" "p.(=)" "" "0000535748" "00000207" "10" "5382" "469" "5382" "469" "c.5382+469T>C" "r.(=)" "p.(=)" "" "0000535749" "00000207" "10" "5347" "0" "5347" "0" "c.5347G>A" "r.(?)" "p.(Val1783Met)" "" "0000535750" "00000207" "50" "5347" "0" "5347" "0" "c.5347G>A" "r.(?)" "p.(Val1783Met)" "" "0000535751" "00000207" "30" "5317" "0" "5317" "0" "c.5317G>A" "r.(?)" "p.(Val1773Met)" "" "0000535752" "00000207" "30" "5237" "10" "5237" "10" "c.5237+10C>G" "r.(=)" "p.(=)" "" "0000535753" "00000207" "50" "5163" "0" "5163" "0" "c.5163C>T" "r.(?)" "p.(Phe1721=)" "" "0000535754" "00000207" "30" "5131" "0" "5131" "0" "c.5131G>A" "r.(?)" "p.(Val1711Ile)" "" "0000535755" "00000207" "30" "5130" "0" "5130" "0" "c.5130C>T" "r.(?)" "p.(Tyr1710=)" "" "0000535756" "00000207" "10" "5122" "-47" "5122" "-47" "c.5122-47T>C" "r.(=)" "p.(=)" "" "0000535757" "00000207" "10" "5122" "-278" "5122" "-278" "c.5122-278G>T" "r.(=)" "p.(=)" "" "0000535758" "00000207" "10" "5122" "-354" "5122" "-354" "c.5122-354C>T" "r.(=)" "p.(=)" "" "0000535759" "00000207" "10" "5121" "411" "5121" "411" "c.5121+411C>T" "r.(=)" "p.(=)" "" "0000535760" "00000207" "10" "5076" "0" "5076" "0" "c.5076A>G" "r.(?)" "p.(Gly1692=)" "" "0000535761" "00000207" "50" "5039" "0" "5039" "0" "c.5039G>A" "r.(?)" "p.(Arg1680Gln)" "" "0000535762" "00000207" "30" "5019" "0" "5019" "0" "c.5019C>T" "r.(?)" "p.(Val1673=)" "" "0000535763" "00000207" "50" "4774" "-17" "4774" "-17" "c.4774-17G>A" "r.(=)" "p.(=)" "" "0000535764" "00000207" "10" "4773" "234" "4773" "234" "c.4773+234C>T" "r.(=)" "p.(=)" "" "0000535765" "00000207" "30" "4764" "0" "4764" "0" "c.4764T>C" "r.(?)" "p.(Asn1588=)" "" "0000535766" "00000207" "10" "4729" "0" "4729" "0" "c.4729T>C" "r.(?)" "p.(Leu1577=)" "" "0000535767" "00000207" "10" "4699" "-362" "4699" "-362" "c.4699-362A>G" "r.(=)" "p.(=)" "" "0000535768" "00000207" "10" "4699" "-404" "4699" "-404" "c.4699-404A>G" "r.(=)" "p.(=)" "" "0000535769" "00000207" "10" "4698" "648" "4698" "648" "c.4698+648C>T" "r.(=)" "p.(=)" "" "0000535770" "00000207" "10" "4698" "321" "4698" "321" "c.4698+321C>T" "r.(=)" "p.(=)" "" "0000535771" "00000207" "10" "4698" "258" "4698" "258" "c.4698+258C>T" "r.(=)" "p.(=)" "" "0000535772" "00000207" "10" "4593" "-26" "4593" "-26" "c.4593-26G>C" "r.(=)" "p.(=)" "" "0000535773" "00000207" "10" "4593" "-132" "4593" "-131" "c.4593-132_4593-131del" "r.(=)" "p.(=)" "" "0000535774" "00000207" "10" "4593" "-301" "4593" "-301" "c.4593-301A>C" "r.(=)" "p.(=)" "" "0000535775" "00000207" "10" "4593" "-406" "4593" "-406" "c.4593-406A>G" "r.(=)" "p.(=)" "" "0000535776" "00000207" "10" "4560" "-294" "4560" "-294" "c.4560-294dup" "r.(=)" "p.(=)" "" "0000535777" "00000207" "10" "4560" "-322" "4560" "-322" "c.4560-322C>T" "r.(=)" "p.(=)" "" "0000535778" "00000207" "10" "4560" "-396" "4560" "-396" "c.4560-396T>C" "r.(=)" "p.(=)" "" "0000535779" "00000207" "10" "4559" "391" "4559" "391" "c.4559+391dup" "r.(=)" "p.(=)" "" "0000535780" "00000207" "10" "4559" "30" "4559" "30" "c.4559+30G>T" "r.(=)" "p.(=)" "" "0000535781" "00000207" "90" "4517" "0" "4517" "0" "c.4517C>T" "r.(?)" "p.(Ser1506Leu)" "" "0000535782" "00000207" "30" "4464" "14" "4464" "14" "c.4464+14A>C" "r.(=)" "p.(=)" "" "0000535783" "00000207" "50" "4426" "0" "4426" "0" "c.4426G>C" "r.(?)" "p.(Val1476Leu)" "" "0000535784" "00000207" "30" "4426" "0" "4426" "0" "c.4426G>A" "r.(?)" "p.(Val1476Met)" "" "0000535785" "00000207" "10" "4274" "372" "4274" "372" "c.4274+372C>T" "r.(=)" "p.(=)" "" "0000535786" "00000207" "70" "4225" "0" "4225" "0" "c.4225A>G" "r.(?)" "p.(Thr1409Ala)" "" "0000535787" "00000207" "30" "4175" "17" "4175" "17" "c.4175+17C>T" "r.(=)" "p.(=)" "" "0000535788" "00000207" "50" "4087" "0" "4087" "0" "c.4087G>A" "r.(?)" "p.(Val1363Met)" "" "0000535789" "00000207" "30" "4050" "20" "4050" "20" "c.4050+20C>T" "r.(=)" "p.(=)" "" "0000535790" "00000207" "50" "4031" "0" "4031" "0" "c.4031G>A" "r.(?)" "p.(Arg1344Gln)" "" "0000535791" "00000207" "50" "3959" "0" "3959" "0" "c.3959A>G" "r.(?)" "p.(Lys1320Arg)" "" "0000535792" "00000207" "10" "3901" "153" "3901" "153" "c.3901+153C>T" "r.(=)" "p.(=)" "" "0000535793" "00000207" "30" "3893" "0" "3893" "0" "c.3893T>C" "r.(?)" "p.(Ile1298Thr)" "" "0000535795" "00000207" "70" "3809" "0" "3809" "0" "c.3809G>A" "r.(?)" "p.(Arg1270Gln)" "" "0000535796" "00000207" "30" "3787" "15" "3787" "15" "c.3787+15G>C" "r.(=)" "p.(=)" "" "0000535797" "00000207" "30" "3771" "0" "3771" "0" "c.3771G>A" "r.(?)" "p.(Val1257=)" "" "0000535798" "00000207" "10" "3768" "0" "3768" "0" "c.3768G>A" "r.(?)" "p.(Gly1256=)" "" "0000535799" "00000207" "10" "3738" "321" "3738" "321" "c.3738+321T>G" "r.(=)" "p.(=)" "" "0000535800" "00000207" "90" "3738" "1" "3738" "1" "c.3738+1G>C" "r.spl?" "p.?" "" "0000535801" "00000207" "30" "3619" "0" "3619" "0" "c.3619G>A" "r.(?)" "p.(Val1207Met)" "" "0000535803" "00000207" "30" "3536" "-298" "3536" "-295" "c.3536-298_3536-295del" "r.(=)" "p.(=)" "" "0000535804" "00000207" "50" "3535" "0" "3535" "0" "c.3535G>A" "r.(?)" "p.(Asp1179Asn)" "" "0000535805" "00000207" "30" "3510" "0" "3510" "0" "c.3510C>T" "r.(?)" "p.(Asp1170=)" "" "0000535806" "00000207" "50" "3497" "0" "3497" "0" "c.3497G>A" "r.(?)" "p.(Gly1166Asp)" "" "0000535807" "00000207" "30" "3470" "0" "3470" "0" "c.3470G>A" "r.(?)" "p.(Ser1157Asn)" "" "0000535808" "00000207" "30" "3463" "-65" "3463" "-65" "c.3463-65G>A" "r.(=)" "p.(=)" "" "0000535809" "00000207" "30" "3463" "-133" "3463" "-133" "c.3463-133A>G" "r.(=)" "p.(=)" "" "0000535810" "00000207" "10" "3462" "493" "3462" "493" "c.3462+493del" "r.(=)" "p.(=)" "" "0000535811" "00000207" "10" "3462" "287" "3462" "287" "c.3462+287C>T" "r.(=)" "p.(=)" "" "0000535812" "00000207" "10" "3462" "285" "3462" "285" "c.3462+285G>A" "r.(=)" "p.(=)" "" "0000535813" "00000207" "10" "3462" "102" "3462" "102" "c.3462+102A>G" "r.(=)" "p.(=)" "" "0000535814" "00000207" "30" "3432" "0" "3432" "0" "c.3432C>T" "r.(?)" "p.(Asn1144=)" "" "0000535815" "00000207" "50" "3388" "0" "3388" "0" "c.3388T>G" "r.(?)" "p.(Leu1130Val)" "" "0000535816" "00000207" "30" "3378" "0" "3378" "0" "c.3378C>T" "r.(?)" "p.(Tyr1126=)" "" "0000535817" "00000207" "50" "3244" "0" "3244" "0" "c.3244C>T" "r.(?)" "p.(Arg1082Cys)" "" "0000535818" "00000207" "10" "3242" "-143" "3242" "-143" "c.3242-143G>A" "r.(=)" "p.(=)" "" "0000535819" "00000207" "10" "3241" "118" "3241" "118" "c.3241+118T>G" "r.(=)" "p.(=)" "" "0000535820" "00000207" "50" "3145" "0" "3145" "0" "c.3145G>A" "r.(?)" "p.(Gly1049Arg)" "" "0000535821" "00000207" "50" "3125" "0" "3125" "0" "c.3125C>T" "r.(?)" "p.(Ser1042Phe)" "" "0000535822" "00000207" "10" "3104" "-5" "3104" "-5" "c.3104-5dup" "r.spl?" "p.?" "" "0000535823" "00000207" "50" "3080" "0" "3080" "0" "c.3080A>G" "r.(?)" "p.(Lys1027Arg)" "" "0000535824" "00000207" "30" "2994" "0" "2994" "0" "c.2994C>A" "r.(?)" "p.(Ala998=)" "" "0000535825" "00000207" "10" "2970" "0" "2970" "0" "c.2970C>T" "r.(?)" "p.(Val990=)" "" "0000535826" "00000207" "10" "2961" "-430" "2961" "-430" "c.2961-430C>T" "r.(=)" "p.(=)" "" "0000535827" "00000207" "30" "2960" "143" "2960" "143" "c.2960+143T>C" "r.(=)" "p.(=)" "" "0000535828" "00000207" "10" "2829" "-244" "2829" "-244" "c.2829-244G>A" "r.(=)" "p.(=)" "" "0000535829" "00000207" "30" "2811" "0" "2811" "0" "c.2811G>C" "r.(?)" "p.(Ala937=)" "" "0000535830" "00000207" "30" "2751" "0" "2751" "0" "c.2751T>C" "r.(?)" "p.(Asp917=)" "" "0000535831" "00000207" "10" "2657" "-68" "2657" "-68" "c.2657-68C>G" "r.(=)" "p.(=)" "" "0000535832" "00000207" "30" "2657" "-75" "2657" "-75" "c.2657-75G>A" "r.(=)" "p.(=)" "" "0000535833" "00000207" "30" "2657" "-368" "2657" "-368" "c.2657-368A>C" "r.(=)" "p.(=)" "" "0000535834" "00000207" "30" "2657" "-398" "2657" "-398" "c.2657-398del" "r.(=)" "p.(=)" "" "0000535835" "00000207" "10" "2657" "-398" "2657" "-398" "c.2657-398dup" "r.(=)" "p.(=)" "" "0000535836" "00000207" "10" "2656" "222" "2656" "225" "c.2656+222_2656+225del" "r.(=)" "p.(=)" "" "0000535837" "00000207" "10" "2543" "-466" "2543" "-466" "c.2543-466C>T" "r.(=)" "p.(=)" "" "0000535838" "00000207" "30" "2338" "-404" "2338" "-404" "c.2338-404T>C" "r.(=)" "p.(=)" "" "0000535839" "00000207" "10" "2337" "95" "2337" "95" "c.2337+95T>A" "r.(=)" "p.(=)" "" "0000535840" "00000207" "30" "2311" "0" "2311" "0" "c.2311G>C" "r.(?)" "p.(Val771Leu)" "" "0000535841" "00000207" "30" "2289" "0" "2289" "0" "c.2289G>T" "r.(?)" "p.(Leu763=)" "" "0000535842" "00000207" "10" "2169" "0" "2169" "0" "c.2169C>T" "r.(?)" "p.(Ser723=)" "" "0000535843" "00000207" "50" "2134" "0" "2134" "0" "c.2134T>C" "r.(?)" "p.(Tyr712His)" "" "0000535844" "00000207" "10" "2116" "-130" "2116" "-130" "c.2116-130T>A" "r.(=)" "p.(=)" "" "0000535845" "00000207" "10" "2116" "-180" "2116" "-180" "c.2116-180G>A" "r.(=)" "p.(=)" "" "0000535846" "00000207" "10" "2116" "-294" "2116" "-294" "c.2116-294G>A" "r.(=)" "p.(=)" "" "0000535847" "00000207" "30" "2116" "-345" "2116" "-345" "c.2116-345G>C" "r.(=)" "p.(=)" "" "0000535848" "00000207" "10" "2115" "173" "2115" "173" "c.2115+173G>A" "r.(=)" "p.(=)" "" "0000535849" "00000207" "10" "2115" "115" "2115" "115" "c.2115+115C>A" "r.(=)" "p.(=)" "" "0000535850" "00000207" "10" "2115" "81" "2115" "81" "c.2115+81A>G" "r.(=)" "p.(=)" "" "0000535851" "00000207" "30" "2115" "12" "2115" "12" "c.2115+12T>G" "r.(=)" "p.(=)" "" "0000535853" "00000207" "70" "1918" "0" "1918" "0" "c.1918A>G" "r.(?)" "p.(Met640Val)" "" "0000535854" "00000207" "10" "1893" "-59" "1893" "-59" "c.1893-59C>T" "r.(=)" "p.(=)" "" "0000535855" "00000207" "10" "1893" "-388" "1893" "-388" "c.1893-388G>A" "r.(=)" "p.(=)" "" "0000535856" "00000207" "10" "1892" "229" "1892" "229" "c.1892+229T>A" "r.(=)" "p.(=)" "" "0000535857" "00000207" "10" "1892" "235" "1892" "235" "c.1892+235del" "r.(=)" "p.(=)" "" "0000535858" "00000207" "30" "1892" "235" "1892" "235" "c.1892+235dup" "r.(=)" "p.(=)" "" "0000535859" "00000207" "10" "1892" "24" "1892" "24" "c.1892+24T>A" "r.(=)" "p.(=)" "" "0000535860" "00000207" "50" "1826" "0" "1826" "0" "c.1826C>T" "r.(?)" "p.(Thr609Met)" "" "0000535861" "00000207" "50" "1819" "0" "1819" "0" "c.1819G>T" "r.(?)" "p.(Val607Leu)" "" "0000535862" "00000207" "70" "1736" "0" "1736" "0" "c.1736G>A" "r.(?)" "p.(Arg579Gln)" "" "0000535863" "00000207" "90" "1724" "0" "1724" "0" "c.1724A>T" "r.(?)" "p.(Asp575Val)" "" "0000535864" "00000207" "30" "1716" "0" "1716" "0" "c.1716G>A" "r.(?)" "p.(Gly572=)" "" "0000535865" "00000207" "10" "1716" "-48" "1716" "-48" "c.1716-48A>T" "r.(=)" "p.(=)" "" "0000535866" "00000207" "10" "1716" "-50" "1716" "-49" "c.1716-50_1716-49del" "r.(=)" "p.(=)" "" "0000535867" "00000207" "10" "1716" "-49" "1716" "-49" "c.1716-49del" "r.(=)" "p.(=)" "" "0000535868" "00000207" "10" "1716" "-49" "1716" "-49" "c.1716-49dup" "r.(=)" "p.(=)" "" "0000535869" "00000207" "30" "1716" "-121" "1716" "-121" "c.1716-121del" "r.(=)" "p.(=)" "" "0000535870" "00000207" "10" "1716" "-121" "1716" "-121" "c.1716-121dup" "r.(=)" "p.(=)" "" "0000535871" "00000207" "10" "1716" "-238" "1716" "-238" "c.1716-238A>G" "r.(=)" "p.(=)" "" "0000535872" "00000207" "70" "1679" "0" "1679" "0" "c.1679T>C" "r.(?)" "p.(Ile560Thr)" "" "0000535873" "00000207" "30" "1636" "0" "1636" "0" "c.1636A>G" "r.(?)" "p.(Ile546Val)" "" "0000535874" "00000207" "30" "1510" "-5" "1510" "-5" "c.1510-5A>G" "r.spl?" "p.?" "" "0000535875" "00000207" "10" "1510" "-256" "1510" "-256" "c.1510-256T>C" "r.(=)" "p.(=)" "" "0000535876" "00000207" "10" "1510" "-366" "1510" "-366" "c.1510-366A>G" "r.(=)" "p.(=)" "" "0000535877" "00000207" "10" "1509" "340" "1509" "340" "c.1509+340T>C" "r.(=)" "p.(=)" "" "0000535878" "00000207" "10" "1509" "84" "1509" "84" "c.1509+84del" "r.(=)" "p.(=)" "" "0000535879" "00000207" "50" "1486" "0" "1486" "0" "c.1486C>T" "r.(?)" "p.(Arg496Trp)" "" "0000535880" "00000207" "70" "1481" "0" "1481" "0" "c.1481C>A" "r.(?)" "p.(Ala494Glu)" "" "0000535881" "00000207" "50" "1396" "0" "1396" "0" "c.1396T>C" "r.(?)" "p.(Phe466Leu)" "" "0000535882" "00000207" "30" "1344" "0" "1344" "0" "c.1344T>C" "r.(?)" "p.(Phe448=)" "" "0000535883" "00000207" "50" "1340" "0" "1340" "0" "c.1340A>C" "r.(?)" "p.(His447Pro)" "" "0000535884" "00000207" "10" "1312" "-168" "1312" "-168" "c.1312-168dup" "r.(=)" "p.(=)" "" "0000535885" "00000207" "10" "1312" "-550" "1312" "-550" "c.1312-550T>G" "r.(=)" "p.(=)" "" "0000535886" "00000207" "10" "1311" "377" "1311" "377" "c.1311+377A>C" "r.(=)" "p.(=)" "" "0000535887" "00000207" "50" "1201" "0" "1201" "0" "c.1201A>C" "r.(?)" "p.(Lys401Gln)" "" "0000535888" "00000207" "10" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "" "0000535889" "00000207" "30" "1195" "-8" "1195" "-8" "c.1195-8G>A" "r.(=)" "p.(=)" "" "0000535890" "00000207" "30" "1195" "-19" "1195" "-19" "c.1195-19G>T" "r.(=)" "p.(=)" "" "0000535891" "00000207" "10" "1195" "-38" "1195" "-36" "c.1195-38_1195-36del" "r.(=)" "p.(=)" "" "0000535892" "00000207" "10" "1195" "-62" "1195" "-61" "c.1195-62_1195-61insG" "r.(=)" "p.(=)" "" "0000535893" "00000207" "10" "1195" "-104" "1195" "-104" "c.1195-104A>G" "r.(=)" "p.(=)" "" "0000535894" "00000207" "30" "1194" "19" "1194" "27" "c.1194+19_1194+27del" "r.(=)" "p.(=)" "" "0000535895" "00000207" "10" "1055" "-320" "1055" "-320" "c.1055-320T>C" "r.(=)" "p.(=)" "" "0000535896" "00000207" "10" "1055" "-345" "1055" "-345" "c.1055-345T>C" "r.(=)" "p.(=)" "" "0000535897" "00000207" "10" "1054" "218" "1054" "218" "c.1054+218A>C" "r.(=)" "p.(=)" "" "0000535898" "00000207" "30" "1028" "0" "1028" "0" "c.1028C>T" "r.(?)" "p.(Ala343Val)" "" "0000535899" "00000207" "30" "927" "0" "927" "0" "c.927C>T" "r.(?)" "p.(Cys309=)" "" "0000535900" "00000207" "50" "820" "0" "820" "0" "c.820A>C" "r.(?)" "p.(Ser274Arg)" "" "0000535901" "00000207" "10" "814" "-14" "814" "-14" "c.814-14dup" "r.(=)" "p.(=)" "" "0000535902" "00000207" "10" "814" "-243" "814" "-243" "c.814-243C>T" "r.(=)" "p.(=)" "" "0000535903" "00000207" "30" "814" "-285" "814" "-285" "c.814-285G>A" "r.(=)" "p.(=)" "" "0000535904" "00000207" "30" "814" "-358" "814" "-358" "c.814-358G>A" "r.(=)" "p.(=)" "" "0000535905" "00000207" "10" "814" "-374" "814" "-374" "c.814-374G>A" "r.(=)" "p.(=)" "" "0000535906" "00000207" "10" "814" "-408" "814" "-407" "c.814-408_814-407del" "r.(=)" "p.(=)" "" "0000535907" "00000207" "30" "754" "0" "754" "0" "c.754A>G" "r.(?)" "p.(Lys252Glu)" "" "0000535908" "00000207" "10" "720" "471" "720" "471" "c.720+471C>T" "r.(=)" "p.(=)" "" "0000535909" "00000207" "10" "720" "416" "720" "416" "c.720+416G>A" "r.(=)" "p.(=)" "" "0000535910" "00000207" "30" "720" "345" "720" "345" "c.720+345del" "r.(=)" "p.(=)" "" "0000535911" "00000207" "30" "720" "6" "720" "6" "c.720+6T>C" "r.(=)" "p.(=)" "" "0000535912" "00000207" "30" "715" "0" "715" "0" "c.715A>G" "r.(?)" "p.(Ile239Val)" "" "0000535913" "00000207" "30" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.(Arg230Cys)" "" "0000535914" "00000207" "50" "671" "0" "671" "0" "c.671C>T" "r.(?)" "p.(Ala224Val)" "" "0000535915" "00000207" "10" "656" "0" "656" "0" "c.656G>A" "r.(?)" "p.(Arg219Lys)" "" "0000535916" "00000207" "10" "634" "0" "634" "0" "c.634T>A" "r.(?)" "p.(Ser212Thr)" "" "0000535917" "00000207" "10" "544" "-161" "544" "-161" "c.544-161T>G" "r.(=)" "p.(=)" "" "0000535918" "00000207" "10" "543" "390" "543" "390" "c.543+390C>A" "r.(=)" "p.(=)" "" "0000535919" "00000207" "10" "543" "334" "543" "334" "c.543+334G>A" "r.(=)" "p.(=)" "" "0000535920" "00000207" "10" "543" "210" "543" "210" "c.543+210A>C" "r.(=)" "p.(=)" "" "0000535921" "00000207" "10" "422" "-14" "422" "-14" "c.422-14C>G" "r.(=)" "p.(=)" "" "0000535922" "00000207" "30" "422" "-16" "422" "-16" "c.422-16C>T" "r.(=)" "p.(=)" "" "0000535923" "00000207" "10" "422" "-43" "422" "-43" "c.422-43del" "r.(=)" "p.(=)" "" "0000535924" "00000207" "10" "422" "-43" "422" "-43" "c.422-43dup" "r.(=)" "p.(=)" "" "0000535925" "00000207" "10" "422" "-128" "422" "-128" "c.422-128G>A" "r.(=)" "p.(=)" "" "0000535926" "00000207" "10" "422" "-255" "422" "-250" "c.422-255_422-250dup" "r.(=)" "p.(=)" "" "0000535927" "00000207" "10" "422" "-251" "422" "-250" "c.422-251_422-250del" "r.(=)" "p.(=)" "" "0000535928" "00000207" "10" "422" "-251" "422" "-250" "c.422-251_422-250dup" "r.(=)" "p.(=)" "" "0000535929" "00000207" "10" "422" "-302" "422" "-302" "c.422-302A>G" "r.(=)" "p.(=)" "" "0000535930" "00000207" "10" "422" "-308" "422" "-308" "c.422-308A>G" "r.(=)" "p.(=)" "" "0000535931" "00000207" "10" "421" "240" "421" "240" "c.421+240G>A" "r.(=)" "p.(=)" "" "0000535932" "00000207" "50" "421" "0" "421" "0" "c.421A>G" "r.(?)" "p.(Asn141Asp)" "" "0000535933" "00000207" "10" "303" "-236" "303" "-236" "c.303-236A>G" "r.(=)" "p.(=)" "" "0000535934" "00000207" "10" "302" "448" "302" "448" "c.302+448A>G" "r.(=)" "p.(=)" "" "0000535935" "00000207" "10" "302" "419" "302" "419" "c.302+419G>A" "r.(=)" "p.(=)" "" "0000535936" "00000207" "70" "302" "6" "302" "6" "c.302+6T>C" "r.(=)" "p.(=)" "" "0000535937" "00000207" "50" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Arg83His)" "" "0000535938" "00000207" "70" "207" "0" "207" "0" "c.207G>A" "r.(?)" "p.(Trp69Ter)" "" "0000535939" "00000207" "50" "161" "-170" "161" "-170" "c.161-170G>A" "r.(=)" "p.(=)" "" "0000535940" "00000207" "10" "161" "-228" "161" "-228" "c.161-228C>T" "r.(=)" "p.(=)" "" "0000535941" "00000207" "10" "161" "-272" "161" "-272" "c.161-272T>C" "r.(=)" "p.(=)" "" "0000535942" "00000207" "10" "161" "-371" "161" "-371" "c.161-371G>A" "r.(=)" "p.(=)" "" "0000535943" "00000207" "10" "160" "209" "160" "209" "c.160+209A>G" "r.(=)" "p.(=)" "" "0000535944" "00000207" "10" "160" "171" "160" "171" "c.160+171A>G" "r.(=)" "p.(=)" "" "0000535945" "00000207" "50" "103" "0" "103" "0" "c.103A>G" "r.(?)" "p.(Ile35Val)" "" "0000535946" "00000207" "50" "94" "0" "94" "0" "c.94C>A" "r.(?)" "p.(Pro32Thr)" "" "0000535947" "00000207" "10" "67" "-50" "67" "-50" "c.67-50T>C" "r.(=)" "p.(=)" "" "0000535948" "00000207" "10" "67" "-469" "67" "-469" "c.67-469A>G" "r.(=)" "p.(=)" "" "0000535949" "00000207" "10" "66" "384" "66" "384" "c.66+384G>A" "r.(=)" "p.(=)" "" "0000535950" "00000207" "10" "66" "156" "66" "156" "c.66+156C>T" "r.(=)" "p.(=)" "" "0000535951" "00000207" "10" "66" "144" "66" "144" "c.66+144G>A" "r.(=)" "p.(=)" "" "0000535952" "00000207" "10" "66" "9" "66" "9" "c.66+9G>T" "r.(=)" "p.(=)" "" "0000535953" "00000207" "30" "66" "9" "66" "9" "c.66+9G>T" "r.(=)" "p.(=)" "" "0000535954" "00000207" "30" "63" "0" "63" "0" "c.63A>C" "r.(?)" "p.(Gln21His)" "" "0000535955" "00000207" "10" "-76" "0" "-76" "0" "c.-76dup" "r.(?)" "p.(=)" "" "0000535956" "00000207" "10" "-92" "-216" "-92" "-216" "c.-92-216T>C" "r.(=)" "p.(=)" "" "0000535957" "00000207" "10" "-92" "-293" "-92" "-293" "c.-92-293G>A" "r.(=)" "p.(=)" "" "0000535958" "00000207" "10" "-92" "-362" "-92" "-362" "c.-92-362A>G" "r.(=)" "p.(=)" "" "0000601050" "00000207" "70" "2328" "0" "2328" "0" "c.2328G>C" "r.(?)" "p.(Lys776Asn)" "" "0000611761" "00000207" "50" "6687" "0" "6687" "0" "c.6687C>G" "r.(?)" "p.(His2229Gln)" "" "0000611762" "00000207" "30" "6205" "-374" "6205" "-374" "c.6205-374del" "r.(=)" "p.(=)" "" "0000611763" "00000207" "30" "6204" "7" "6204" "7" "c.6204+7A>G" "r.(=)" "p.(=)" "" "0000611764" "00000207" "50" "5621" "0" "5621" "0" "c.5621T>G" "r.(?)" "p.(Phe1874Cys)" "" "0000611765" "00000207" "30" "5507" "-25" "5507" "-25" "c.5507-25C>T" "r.(=)" "p.(=)" "" "0000611766" "00000207" "30" "5362" "0" "5362" "0" "c.5362C>T" "r.(?)" "p.(Leu1788=)" "" "0000611767" "00000207" "30" "5238" "-18" "5238" "-18" "c.5238-18C>T" "r.(=)" "p.(=)" "" "0000611768" "00000207" "30" "5136" "0" "5136" "0" "c.5136C>T" "r.(?)" "p.(Val1712=)" "" "0000611769" "00000207" "50" "4975" "0" "4975" "0" "c.4975A>C" "r.(?)" "p.(Ile1659Leu)" "" "0000611770" "00000207" "50" "4698" "14" "4698" "14" "c.4698+14C>G" "r.(=)" "p.(=)" "" "0000611771" "00000207" "30" "4536" "0" "4536" "0" "c.4536G>A" "r.(?)" "p.(Thr1512=)" "" "0000611772" "00000207" "30" "4176" "-274" "4176" "-274" "c.4176-274A>C" "r.(=)" "p.(=)" "" "0000611773" "00000207" "30" "4083" "0" "4083" "0" "c.4083C>G" "r.(?)" "p.(Ala1361=)" "" "0000611774" "00000207" "30" "4050" "8" "4050" "8" "c.4050+8G>A" "r.(=)" "p.(=)" "" "0000611775" "00000207" "30" "3901" "279" "3901" "279" "c.3901+279T>C" "r.(=)" "p.(=)" "" "0000611776" "00000207" "30" "3756" "0" "3756" "0" "c.3756C>G" "r.(?)" "p.(Ala1252=)" "" "0000611777" "00000207" "30" "3738" "365" "3738" "365" "c.3738+365T>A" "r.(=)" "p.(=)" "" "0000611778" "00000207" "30" "3535" "141" "3535" "141" "c.3535+141T>G" "r.(=)" "p.(=)" "" "0000611779" "00000207" "30" "3462" "492" "3462" "493" "c.3462+492_3462+493del" "r.(=)" "p.(=)" "" "0000611780" "00000207" "30" "3006" "0" "3006" "0" "c.3006G>A" "r.(?)" "p.(Gly1002=)" "" "0000611781" "00000207" "50" "2894" "0" "2894" "0" "c.2894G>A" "r.(?)" "p.(Arg965His)" "" "0000611782" "00000207" "50" "2378" "0" "2378" "0" "c.2378A>G" "r.(?)" "p.(Tyr793Cys)" "" "0000611783" "00000207" "30" "2338" "-14" "2338" "-14" "c.2338-14C>A" "r.(=)" "p.(=)" "" "0000611784" "00000207" "30" "2334" "0" "2334" "0" "c.2334C>T" "r.(?)" "p.(Phe778=)" "" "0000611785" "00000207" "30" "1855" "0" "1855" "0" "c.1855A>G" "r.(?)" "p.(Met619Val)" "" "0000611786" "00000207" "30" "1764" "0" "1764" "0" "c.1764C>T" "r.(?)" "p.(Tyr588=)" "" "0000611787" "00000207" "90" "1669" "0" "1669" "0" "c.1669C>T" "r.(?)" "p.(Arg557Ter)" "" "0000611788" "00000207" "70" "1312" "-1" "1312" "-1" "c.1312-1G>A" "r.spl?" "p.?" "" "0000611789" "00000207" "30" "1311" "19" "1311" "19" "c.1311+19A>T" "r.(=)" "p.(=)" "" "0000611790" "00000207" "10" "1055" "-403" "1055" "-403" "c.1055-403A>G" "r.(=)" "p.(=)" "" "0000611791" "00000207" "50" "855" "0" "855" "0" "c.855G>A" "r.(?)" "p.(Val285=)" "" "0000611792" "00000207" "30" "603" "0" "603" "0" "c.603A>T" "r.(?)" "p.(Glu201Asp)" "" "0000611793" "00000207" "30" "160" "353" "160" "353" "c.160+353C>A" "r.(=)" "p.(=)" "" "0000611794" "00000207" "30" "160" "26" "160" "26" "c.160+26G>A" "r.(=)" "p.(=)" "" "0000611795" "00000207" "30" "66" "24" "66" "24" "c.66+24G>T" "r.(=)" "p.(=)" "" "0000622105" "00000207" "30" "7106" "0" "7107" "0" "c.*320_*321del" "r.(=)" "p.(=)" "" "0000622106" "00000207" "10" "6555" "0" "6555" "0" "c.6555T>G" "r.(?)" "p.(Ser2185=)" "" "0000622107" "00000207" "30" "6069" "11" "6069" "11" "c.6069+11C>T" "r.(=)" "p.(=)" "" "0000622108" "00000207" "50" "5515" "0" "5515" "0" "c.5515C>T" "r.(?)" "p.(Arg1839Cys)" "" "0000622109" "00000207" "10" "5506" "319" "5506" "319" "c.5506+319A>G" "r.(=)" "p.(=)" "" "0000622110" "00000207" "50" "5110" "0" "5110" "0" "c.5110G>A" "r.(?)" "p.(Val1704Ile)" "" "0000622111" "00000207" "30" "5001" "0" "5001" "0" "c.5001C>T" "r.(?)" "p.(Phe1667=)" "" "0000622112" "00000207" "30" "4943" "423" "4943" "424" "c.4943+423_4943+424del" "r.(=)" "p.(=)" "" "0000622113" "00000207" "30" "4593" "-7" "4593" "-7" "c.4593-7C>A" "r.(=)" "p.(=)" "" "0000622114" "00000207" "10" "4593" "-236" "4593" "-236" "c.4593-236A>G" "r.(=)" "p.(=)" "" "0000622115" "00000207" "10" "4593" "-399" "4593" "-399" "c.4593-399G>A" "r.(=)" "p.(=)" "" "0000622116" "00000207" "30" "4274" "182" "4274" "182" "c.4274+182C>T" "r.(=)" "p.(=)" "" "0000622117" "00000207" "50" "4196" "0" "4196" "0" "c.4196C>T" "r.(?)" "p.(Thr1399Met)" "" "0000622118" "00000207" "30" "3892" "0" "3892" "0" "c.3892A>T" "r.(?)" "p.(Ile1298Leu)" "" "0000622119" "00000207" "10" "3738" "376" "3738" "376" "c.3738+376G>C" "r.(=)" "p.(=)" "" "0000622120" "00000207" "30" "3567" "0" "3567" "0" "c.3567G>A" "r.(?)" "p.(Lys1189=)" "" "0000622121" "00000207" "10" "3462" "464" "3462" "464" "c.3462+464G>A" "r.(=)" "p.(=)" "" "0000622122" "00000207" "30" "3462" "7" "3462" "7" "c.3462+7T>A" "r.(=)" "p.(=)" "" "0000622123" "00000207" "30" "3411" "0" "3411" "0" "c.3411C>T" "r.(?)" "p.(Ser1137=)" "" "0000622124" "00000207" "30" "3204" "0" "3204" "0" "c.3204C>T" "r.(?)" "p.(Arg1068=)" "" "0000622125" "00000207" "30" "2961" "-325" "2961" "-325" "c.2961-325G>A" "r.(=)" "p.(=)" "" "0000622126" "00000207" "30" "2841" "0" "2841" "0" "c.2841C>T" "r.(?)" "p.(Thr947=)" "" "0000622127" "00000207" "10" "2828" "468" "2828" "468" "c.2828+468A>G" "r.(=)" "p.(=)" "" "0000622128" "00000207" "10" "2657" "-265" "2657" "-265" "c.2657-265G>A" "r.(=)" "p.(=)" "" "0000622129" "00000207" "10" "2116" "-497" "2116" "-497" "c.2116-497C>G" "r.(=)" "p.(=)" "" "0000622130" "00000207" "30" "2115" "314" "2115" "314" "c.2115+314A>G" "r.(=)" "p.(=)" "" "0000622131" "00000207" "30" "1914" "0" "1914" "0" "c.1914G>A" "r.(?)" "p.(Arg638=)" "" "0000622132" "00000207" "30" "1893" "-14" "1893" "-14" "c.1893-14C>T" "r.(=)" "p.(=)" "" "0000622133" "00000207" "50" "1509" "157" "1509" "157" "c.1509+157C>T" "r.(=)" "p.(=)" "" "0000622134" "00000207" "10" "1312" "-158" "1312" "-158" "c.1312-158C>T" "r.(=)" "p.(=)" "" "0000622135" "00000207" "10" "1311" "521" "1311" "521" "c.1311+521G>A" "r.(=)" "p.(=)" "" "0000622136" "00000207" "30" "882" "0" "882" "0" "c.882C>T" "r.(?)" "p.(Ser294=)" "" "0000622137" "00000207" "30" "721" "-10" "721" "-10" "c.721-10del" "r.(=)" "p.(=)" "" "0000622138" "00000207" "30" "496" "0" "496" "0" "c.496A>G" "r.(?)" "p.(Lys166Glu)" "" "0000622139" "00000207" "10" "422" "-161" "422" "-161" "c.422-161T>C" "r.(=)" "p.(=)" "" "0000622140" "00000207" "10" "422" "-277" "422" "-272" "c.422-277_422-272del" "r.(=)" "p.(=)" "" "0000622141" "00000207" "30" "422" "-277" "422" "-270" "c.422-277_422-270del" "r.(=)" "p.(=)" "" "0000622142" "00000207" "50" "299" "0" "299" "0" "c.299C>G" "r.(?)" "p.(Ser100Cys)" "" "0000622143" "00000207" "10" "160" "540" "160" "540" "c.160+540G>A" "r.(=)" "p.(=)" "" "0000622144" "00000207" "30" "160" "391" "160" "391" "c.160+391C>T" "r.(=)" "p.(=)" "" "0000652563" "00000207" "30" "5020" "0" "5020" "0" "c.5020G>A" "r.(?)" "p.(Val1674Ile)" "" "0000652564" "00000207" "30" "4536" "0" "4536" "0" "c.4536G>T" "r.(=)" "p.(=)" "" "0000652565" "00000207" "10" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.(Arg230Cys)" "" "0000656170" "00000207" "30" "6646" "-16" "6646" "-16" "c.6646-16C>G" "r.(=)" "p.(=)" "" "0000656171" "00000207" "30" "6645" "404" "6645" "404" "c.6645+404G>A" "r.(=)" "p.(=)" "" "0000656172" "00000207" "30" "6441" "0" "6441" "0" "c.6441G>A" "r.(?)" "p.(Gly2147=)" "" "0000656173" "00000207" "30" "6205" "-39" "6205" "-39" "c.6205-39del" "r.(=)" "p.(=)" "" "0000656174" "00000207" "30" "6204" "7" "6204" "7" "c.6204+7A>G" "r.(=)" "p.(=)" "" "0000656175" "00000207" "70" "6152" "0" "6152" "0" "c.6152G>C" "r.(?)" "p.(Arg2051Pro)" "" "0000656176" "00000207" "30" "5383" "-18" "5383" "-17" "c.5383-18_5383-17insCTT" "r.(=)" "p.(=)" "" "0000656177" "00000207" "70" "4898" "0" "4898" "0" "c.4898A>G" "r.(?)" "p.(Asn1633Ser)" "" "0000656178" "00000207" "30" "4401" "0" "4401" "0" "c.4401C>T" "r.(?)" "p.(Ser1467=)" "" "0000656179" "00000207" "50" "4230" "0" "4230" "0" "c.4230A>C" "r.(?)" "p.(Lys1410Asn)" "" "0000656180" "00000207" "50" "4176" "0" "4176" "0" "c.4176C>T" "r.(?)" "p.(Ser1392=)" "" "0000656181" "00000207" "50" "3655" "0" "3655" "0" "c.3655G>T" "r.(?)" "p.(Val1219Leu)" "" "0000656182" "00000207" "50" "3583" "0" "3583" "0" "c.3583C>T" "r.(?)" "p.(Arg1195Trp)" "" "0000656183" "00000207" "70" "3463" "-2" "3463" "-2" "c.3463-2A>G" "r.spl?" "p.?" "" "0000656184" "00000207" "30" "2611" "0" "2611" "0" "c.2611G>T" "r.(?)" "p.(Asp871Tyr)" "" "0000656185" "00000207" "70" "2551" "0" "2551" "0" "c.2551G>A" "r.(?)" "p.(Gly851Arg)" "" "0000656186" "00000207" "50" "1798" "0" "1798" "0" "c.1798G>A" "r.(?)" "p.(Val600Met)" "" "0000656187" "00000207" "50" "1195" "-157" "1195" "-157" "c.1195-157G>A" "r.(=)" "p.(=)" "" "0000656188" "00000207" "30" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Val380Ile)" "" "0000656189" "00000207" "30" "720" "207" "720" "207" "c.720+207C>T" "r.(=)" "p.(=)" "" "0000656190" "00000207" "30" "302" "64" "302" "64" "c.302+64C>T" "r.(=)" "p.(=)" "" "0000678473" "00000207" "10" "7107" "0" "7107" "0" "c.*321dup" "r.(?)" "p.(=)" "" "0000678474" "00000207" "30" "6308" "10" "6308" "10" "c.6308+10A>G" "r.(=)" "p.(=)" "" "0000678475" "00000207" "10" "5927" "508" "5927" "508" "c.5927+508C>T" "r.(=)" "p.(=)" "" "0000678476" "00000207" "30" "4944" "-290" "4944" "-290" "c.4944-290del" "r.(=)" "p.(=)" "" "0000678477" "00000207" "30" "4943" "415" "4943" "424" "c.4943+415_4943+424del" "r.(=)" "p.(=)" "" "0000678478" "00000207" "70" "4943" "5" "4943" "5" "c.4943+5G>A" "r.spl?" "p.?" "" "0000678479" "00000207" "30" "4908" "0" "4908" "0" "c.4908G>A" "r.(?)" "p.(Leu1636=)" "" "0000678480" "00000207" "10" "4698" "455" "4698" "455" "c.4698+455G>A" "r.(=)" "p.(=)" "" "0000678481" "00000207" "30" "4283" "0" "4283" "0" "c.4283C>T" "r.(?)" "p.(Pro1428Leu)" "" "0000678482" "00000207" "50" "4022" "0" "4022" "0" "c.4022G>C" "r.(?)" "p.(Arg1341Thr)" "" "0000678483" "00000207" "70" "3725" "0" "3725" "0" "c.3725C>T" "r.(?)" "p.(Thr1242Met)" "" "0000678484" "00000207" "10" "2828" "426" "2828" "426" "c.2828+426A>G" "r.(=)" "p.(=)" "" "0000678485" "00000207" "30" "2332" "0" "2332" "0" "c.2332T>C" "r.(?)" "p.(Phe778Leu)" "" "0000678486" "00000207" "30" "2320" "0" "2320" "0" "c.2320A>C" "r.(?)" "p.(Thr774Pro)" "" "0000678487" "00000207" "70" "2057" "0" "2064" "0" "c.2057_2064del" "r.(?)" "p.(Phe686Ter)" "" "0000678488" "00000207" "30" "1941" "0" "1941" "0" "c.1941C>A" "r.(?)" "p.(Ala647=)" "" "0000678489" "00000207" "30" "1834" "0" "1834" "0" "c.1834G>A" "r.(?)" "p.(Glu612Lys)" "" "0000678490" "00000207" "50" "1828" "0" "1828" "0" "c.1828G>A" "r.(?)" "p.(Gly610Ser)" "" "0000678491" "00000207" "30" "1392" "0" "1392" "0" "c.1392G>T" "r.(?)" "p.(Val464=)" "" "0000678492" "00000207" "30" "1377" "0" "1377" "0" "c.1377A>C" "r.(?)" "p.(Thr459=)" "" "0000678493" "00000207" "50" "787" "0" "787" "0" "c.787C>G" "r.(?)" "p.(His263Asp)" "" "0000678494" "00000207" "30" "763" "0" "763" "0" "c.763G>A" "r.(?)" "p.(Ala255Thr)" "" "0000678495" "00000207" "50" "753" "0" "753" "0" "c.753C>G" "r.(?)" "p.(Ser251Arg)" "" "0000678496" "00000207" "30" "303" "-484" "303" "-484" "c.303-484A>G" "r.(=)" "p.(=)" "" "0000678497" "00000207" "30" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Asn78=)" "" "0000690346" "00000207" "30" "5346" "0" "5346" "0" "c.5346C>T" "r.(?)" "p.(Ser1782=)" "" "0000690347" "00000207" "50" "5215" "0" "5215" "0" "c.5215G>A" "r.(?)" "p.(Ala1739Thr)" "" "0000690348" "00000207" "30" "4943" "421" "4943" "424" "c.4943+421_4943+424dup" "r.(=)" "p.(=)" "" "0000690349" "00000207" "10" "4274" "539" "4274" "539" "c.4274+539C>T" "r.(=)" "p.(=)" "" "0000690350" "00000207" "10" "4274" "506" "4274" "506" "c.4274+506G>A" "r.(=)" "p.(=)" "" "0000690351" "00000207" "30" "3787" "10" "3787" "10" "c.3787+10T>G" "r.(=)" "p.(=)" "" "0000690352" "00000207" "50" "3542" "0" "3542" "0" "c.3542C>T" "r.(?)" "p.(Ser1181Phe)" "" "0000690353" "00000207" "30" "3536" "-277" "3536" "-270" "c.3536-277_3536-270dup" "r.(=)" "p.(=)" "" "0000690354" "00000207" "30" "3507" "0" "3507" "0" "c.3507C>T" "r.(?)" "p.(Ser1169=)" "" "0000690355" "00000207" "30" "3482" "0" "3482" "0" "c.3482G>A" "r.(?)" "p.(Ser1161Asn)" "" "0000690356" "00000207" "30" "2811" "0" "2811" "0" "c.2811G>A" "r.(?)" "p.(Ala937=)" "" "0000690357" "00000207" "30" "2656" "7" "2656" "7" "c.2656+7G>T" "r.(=)" "p.(=)" "" "0000690358" "00000207" "50" "2338" "-233" "2338" "-233" "c.2338-233A>G" "r.(=)" "p.(=)" "" "0000690359" "00000207" "50" "2335" "0" "2335" "0" "c.2335G>A" "r.(?)" "p.(Ala779Thr)" "" "0000690360" "00000207" "30" "1371" "0" "1371" "0" "c.1371T>C" "r.(?)" "p.(Asp457=)" "" "0000690361" "00000207" "70" "679" "0" "679" "0" "c.679C>T" "r.(?)" "p.(Arg227Ter)" "" "0000690362" "00000207" "30" "544" "-6" "544" "-6" "c.544-6T>C" "r.(=)" "p.(=)" "" "0000690363" "00000207" "30" "422" "-14" "422" "-14" "c.422-14C>T" "r.(=)" "p.(=)" "" "0000698842" "00000207" "50" "5398" "0" "5398" "0" "c.5398A>C" "r.(?)" "p.(Asn1800His)" "" "0000722146" "00000207" "30" "7105" "0" "7107" "0" "c.*319_*321del" "r.(=)" "p.(=)" "" "0000722147" "00000207" "50" "6744" "0" "6748" "0" "c.6744_6748del" "r.(?)" "p.(Phe2250ThrfsTer3)" "" "0000722148" "00000207" "30" "6528" "0" "6528" "0" "c.6528A>G" "r.(?)" "p.(Leu2176=)" "" "0000722149" "00000207" "30" "6402" "-12" "6402" "-12" "c.6402-12dup" "r.(=)" "p.(=)" "" "0000722150" "00000207" "50" "6190" "0" "6190" "0" "c.6190C>T" "r.(?)" "p.(Pro2064Ser)" "" "0000722151" "00000207" "50" "6003" "0" "6003" "0" "c.6003G>C" "r.(?)" "p.(Leu2001Phe)" "" "0000722152" "00000207" "10" "5757" "239" "5757" "239" "c.5757+239A>C" "r.(=)" "p.(=)" "" "0000722153" "00000207" "50" "5747" "0" "5747" "0" "c.5747A>C" "r.(?)" "p.(Glu1916Ala)" "" "0000722154" "00000207" "10" "5637" "-119" "5637" "-119" "c.5637-119C>T" "r.(=)" "p.(=)" "" "0000722155" "00000207" "30" "5416" "0" "5416" "0" "c.5416G>A" "r.(?)" "p.(Val1806Met)" "" "0000722156" "00000207" "50" "5382" "365" "5382" "365" "c.5382+365A>G" "r.(=)" "p.(=)" "" "0000722157" "00000207" "30" "5377" "0" "5377" "0" "c.5377G>A" "r.(?)" "p.(Asp1793Asn)" "" "0000722158" "00000207" "30" "5264" "0" "5264" "0" "c.5264C>T" "r.(?)" "p.(Pro1755Leu)" "" "0000722159" "00000207" "30" "4944" "-16" "4944" "-16" "c.4944-16C>T" "r.(=)" "p.(=)" "" "0000722160" "00000207" "10" "4943" "417" "4943" "424" "c.4943+417_4943+424dup" "r.(=)" "p.(=)" "" "0000722161" "00000207" "30" "4699" "-535" "4699" "-533" "c.4699-535_4699-533dup" "r.(=)" "p.(=)" "" "0000722162" "00000207" "50" "4559" "5" "4559" "5" "c.4559+5C>A" "r.spl?" "p.?" "" "0000722163" "00000207" "90" "4550" "0" "4551" "0" "c.4550_4551del" "r.(?)" "p.(Ile1517Serfs*12)" "" "0000722164" "00000207" "30" "4464" "134" "4464" "134" "c.4464+134dup" "r.(=)" "p.(=)" "" "0000722165" "00000207" "30" "4274" "216" "4274" "216" "c.4274+216G>A" "r.(=)" "p.(=)" "" "0000722166" "00000207" "30" "4155" "0" "4155" "0" "c.4155C>T" "r.(?)" "p.(Asn1385=)" "" "0000722167" "00000207" "30" "4051" "-114" "4051" "-114" "c.4051-114C>T" "r.(=)" "p.(=)" "" "0000722168" "00000207" "30" "3999" "0" "3999" "0" "c.3999G>A" "r.(?)" "p.(Leu1333=)" "" "0000722169" "00000207" "10" "3463" "-195" "3463" "-195" "c.3463-195G>A" "r.(=)" "p.(=)" "" "0000722170" "00000207" "30" "3103" "8" "3103" "8" "c.3103+8C>G" "r.(=)" "p.(=)" "" "0000722171" "00000207" "50" "2971" "0" "2971" "0" "c.2971G>A" "r.(?)" "p.(Glu991Lys)" "" "0000722172" "00000207" "90" "2804" "0" "2804" "0" "c.2804A>G" "r.(?)" "p.(Asn935Ser)" "" "0000722173" "00000207" "30" "2730" "0" "2730" "0" "c.2730T>C" "r.(?)" "p.(Asp910=)" "" "0000722174" "00000207" "30" "2583" "0" "2583" "0" "c.2583C>T" "r.(?)" "p.(Thr861=)" "" "0000722175" "00000207" "30" "2542" "291" "2542" "291" "c.2542+291C>G" "r.(=)" "p.(=)" "" "0000722176" "00000207" "10" "2337" "452" "2337" "452" "c.2337+452G>A" "r.(=)" "p.(=)" "" "0000722177" "00000207" "50" "2233" "0" "2233" "0" "c.2233C>G" "r.(?)" "p.(Leu745Val)" "" "0000722178" "00000207" "10" "1716" "-50" "1716" "-49" "c.1716-50_1716-49dup" "r.(=)" "p.(=)" "" "0000722179" "00000207" "30" "1466" "0" "1466" "0" "c.1466A>G" "r.(?)" "p.(Asn489Ser)" "" "0000722180" "00000207" "30" "1395" "0" "1395" "0" "c.1395G>A" "r.(?)" "p.(Ala465=)" "" "0000722181" "00000207" "30" "1080" "0" "1080" "0" "c.1080G>A" "r.(?)" "p.(Lys360=)" "" "0000722182" "00000207" "50" "916" "0" "916" "0" "c.916C>T" "r.(?)" "p.(Arg306Cys)" "" "0000722183" "00000207" "10" "814" "-1922" "814" "-1922" "c.814-1922T>G" "r.(=)" "p.(=)" "" "0000722184" "00000207" "30" "760" "0" "760" "0" "c.760C>G" "r.(?)" "p.(Leu254Val)" "" "0000722185" "00000207" "10" "720" "504" "720" "504" "c.720+504G>A" "r.(=)" "p.(=)" "" "0000722186" "00000207" "30" "720" "457" "720" "457" "c.720+457C>A" "r.(=)" "p.(=)" "" "0000722187" "00000207" "10" "543" "1477" "543" "1477" "c.543+1477T>C" "r.(=)" "p.(=)" "" "0000722188" "00000207" "10" "543" "1462" "543" "1462" "c.543+1462T>G" "r.(=)" "p.(=)" "" "0000722189" "00000207" "10" "422" "-44" "422" "-43" "c.422-44_422-43del" "r.(=)" "p.(=)" "" "0000722190" "00000207" "10" "422" "-304" "422" "-304" "c.422-304dup" "r.(=)" "p.(=)" "" "0000722191" "00000207" "30" "422" "-472" "422" "-471" "c.422-472_422-471del" "r.(=)" "p.(=)" "" "0000722192" "00000207" "10" "421" "76" "421" "76" "c.421+76T>G" "r.(=)" "p.(=)" "" "0000722193" "00000207" "50" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Pro85Leu)" "" "0000722194" "00000207" "10" "161" "-257" "161" "-257" "c.161-257G>A" "r.(=)" "p.(=)" "" "0000722195" "00000207" "30" "160" "2103" "160" "2103" "c.160+2103G>T" "r.(=)" "p.(=)" "" "0000722196" "00000207" "70" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Tyr46Cys)" "" "0000722197" "00000207" "10" "66" "5115" "66" "5115" "c.66+5115T>A" "r.(=)" "p.(=)" "" "0000722198" "00000207" "10" "-93" "11075" "-93" "11075" "c.-93+11075A>G" "r.(=)" "p.(=)" "" "0000722199" "00000207" "10" "-93" "7699" "-93" "7699" "c.-93+7699A>G" "r.(=)" "p.(=)" "" "0000803802" "00000207" "50" "6094" "0" "6094" "0" "c.6094C>A" "r.(?)" "p.(Leu2032Met)" "" "0000803803" "00000207" "50" "6019" "0" "6019" "0" "c.6019G>T" "r.(?)" "p.(Val2007Leu)" "" "0000803804" "00000207" "30" "4773" "8" "4773" "8" "c.4773+8G>A" "r.(=)" "p.(=)" "" "0000803805" "00000207" "30" "4233" "0" "4233" "0" "c.4233C>T" "r.(?)" "p.(Asp1411=)" "" "0000803806" "00000207" "70" "3272" "0" "3272" "0" "c.3272T>C" "r.(?)" "p.(Met1091Thr)" "" "0000803807" "00000207" "30" "3144" "0" "3144" "0" "c.3144C>T" "r.(?)" "p.(Val1048=)" "" "0000803808" "00000207" "70" "3103" "1" "3103" "1" "c.3103+1G>A" "r.spl?" "p.?" "" "0000803809" "00000207" "50" "2910" "0" "2910" "0" "c.2910C>T" "r.(?)" "p.(Thr970=)" "" "0000803810" "00000207" "30" "2349" "0" "2349" "0" "c.2349T>C" "r.(?)" "p.(Ser783=)" "" "0000803811" "00000207" "70" "2270" "0" "2270" "0" "c.2270T>C" "r.(?)" "p.(Leu757Pro)" "" "0000803812" "00000207" "30" "1510" "-324" "1510" "-324" "c.1510-324G>T" "r.(=)" "p.(=)" "" "0000803813" "00000207" "50" "1338" "0" "1338" "0" "c.1338C>G" "r.(?)" "p.(Asp446Glu)" "" "0000803814" "00000207" "30" "1054" "329" "1054" "329" "c.1054+329C>A" "r.(=)" "p.(=)" "" "0000803815" "00000207" "30" "655" "0" "655" "0" "c.655A>C" "r.(?)" "p.(Arg219=)" "" "0000803816" "00000207" "30" "422" "-304" "422" "-304" "c.422-304del" "r.(=)" "p.(=)" "" "0000803817" "00000207" "30" "345" "0" "345" "0" "c.345C>T" "r.(?)" "p.(Tyr115=)" "" "0000803818" "00000207" "50" "161" "-12" "161" "-12" "c.161-12C>G" "r.(=)" "p.(=)" "" "0000803819" "00000207" "50" "-17" "0" "-17" "0" "c.-17G>A" "r.(?)" "p.(=)" "" "0000852046" "00000207" "50" "6517" "0" "6517" "0" "c.6517C>T" "r.(?)" "p.(Arg2173Trp)" "" "0000852047" "00000207" "30" "6019" "0" "6019" "0" "c.6019G>A" "r.(?)" "p.(Val2007Met)" "" "0000852048" "00000207" "30" "5886" "0" "5886" "0" "c.5886T>C" "r.(?)" "p.(Asp1962=)" "" "0000852049" "00000207" "30" "5383" "-4" "5383" "-3" "c.5383-4_5383-3del" "r.spl?" "p.?" "" "0000852050" "00000207" "50" "5266" "0" "5266" "0" "c.5266G>C" "r.(?)" "p.(Ala1756Pro)" "" "0000852051" "00000207" "50" "5032" "0" "5032" "0" "c.5032C>G" "r.(?)" "p.(Gln1678Glu)" "" "0000852052" "00000207" "10" "4943" "415" "4943" "424" "c.4943+415_4943+424dup" "r.(=)" "p.(=)" "" "0000852053" "00000207" "50" "4629" "0" "4629" "0" "c.4629A>T" "r.(?)" "p.(Gln1543His)" "" "0000852054" "00000207" "30" "4449" "0" "4449" "0" "c.4449G>A" "r.(?)" "p.(Gly1483=)" "" "0000852055" "00000207" "90" "3780" "0" "3780" "0" "c.3780dup" "r.(?)" "p.(Thr1261Aspfs*27)" "" "0000852056" "00000207" "30" "2115" "17" "2115" "17" "c.2115+17C>T" "r.(=)" "p.(=)" "" "0000852057" "00000207" "70" "916" "0" "916" "0" "c.916C>T" "r.(?)" "p.(Arg306Cys)" "" "0000852058" "00000207" "30" "720" "345" "720" "345" "c.720+345dup" "r.(=)" "p.(=)" "" "0000852059" "00000207" "90" "144" "0" "144" "0" "c.144del" "r.(?)" "p.(Tyr49Metfs*74)" "" "0000852060" "00000207" "30" "126" "0" "126" "0" "c.126T>C" "r.(?)" "p.(Val42=)" "" "0000861322" "00000207" "50" "5686" "0" "5686" "0" "c.5686A>G" "r.(?)" "p.(Arg1896Gly)" "" "0000861323" "00000207" "30" "5506" "335" "5506" "335" "c.5506+335G>A" "r.(=)" "p.(=)" "" "0000861324" "00000207" "30" "5301" "0" "5301" "0" "c.5301T>C" "r.(?)" "p.(Tyr1767=)" "" "0000861325" "00000207" "30" "5034" "0" "5034" "0" "c.5034G>A" "r.(?)" "p.(Gln1678=)" "" "0000861326" "00000207" "30" "4699" "-538" "4699" "-533" "c.4699-538_4699-533dup" "r.(=)" "p.(=)" "" "0000861327" "00000207" "30" "4536" "0" "4536" "0" "c.4536G>A" "r.(?)" "p.(Thr1512=)" "" "0000861328" "00000207" "50" "4439" "0" "4439" "0" "c.4439G>C" "r.(?)" "p.(Gly1480Ala)" "" "0000861329" "00000207" "30" "4266" "0" "4266" "0" "c.4266C>T" "r.(?)" "p.(Asn1422=)" "" "0000861330" "00000207" "30" "4051" "-253" "4051" "-253" "c.4051-253G>C" "r.(=)" "p.(=)" "" "0000861331" "00000207" "50" "3655" "0" "3655" "0" "c.3655G>T" "r.(?)" "p.(Val1219Leu)" "" "0000861332" "00000207" "50" "3471" "0" "3471" "0" "c.3471T>G" "r.(?)" "p.(Ser1157Arg)" "" "0000861333" "00000207" "50" "3399" "0" "3399" "0" "c.3399A>C" "r.(?)" "p.(Lys1133Asn)" "" "0000861334" "00000207" "50" "3242" "-4" "3242" "-4" "c.3242-4G>T" "r.spl?" "p.?" "" "0000861335" "00000207" "50" "3067" "0" "3067" "0" "c.3067T>G" "r.(?)" "p.(Ser1023Ala)" "" "0000861336" "00000207" "10" "2338" "-160" "2338" "-160" "c.2338-160C>T" "r.(=)" "p.(=)" "" "0000861337" "00000207" "30" "2338" "-329" "2338" "-329" "c.2338-329C>A" "r.(=)" "p.(=)" "" "0000861338" "00000207" "50" "2173" "0" "2173" "0" "c.2173T>A" "r.(?)" "p.(Phe725Ile)" "" "0000861339" "00000207" "10" "2116" "-117" "2116" "-117" "c.2116-117G>A" "r.(=)" "p.(=)" "" "0000861340" "00000207" "50" "1846" "0" "1846" "0" "c.1846G>T" "r.(?)" "p.(Gly616Cys)" "" "0000861341" "00000207" "30" "1716" "-52" "1716" "-49" "c.1716-52_1716-49del" "r.(=)" "p.(=)" "" "0000861342" "00000207" "30" "1716" "-51" "1716" "-49" "c.1716-51_1716-49del" "r.(=)" "p.(=)" "" "0000861343" "00000207" "50" "1334" "0" "1334" "0" "c.1334A>G" "r.(?)" "p.(Asn445Ser)" "" "0000861344" "00000207" "50" "709" "0" "709" "0" "c.709A>G" "r.(?)" "p.(Lys237Glu)" "" "0000888502" "00000207" "50" "6803" "0" "6803" "0" "c.*17G>A" "r.(=)" "p.(=)" "" "0000888503" "00000207" "50" "6795" "0" "6795" "0" "c.*9del" "r.(?)" "p.(=)" "" "0000888504" "00000207" "50" "6730" "0" "6730" "0" "c.6730G>A" "r.(?)" "p.(Val2244Ile)" "" "0000888505" "00000207" "50" "6701" "0" "6701" "0" "c.6701C>T" "r.(?)" "p.(Ser2234Leu)" "" "0000888506" "00000207" "50" "6475" "0" "6475" "0" "c.6475T>C" "r.(?)" "p.(Phe2159Leu)" "" "0000888507" "00000207" "30" "6308" "11" "6308" "11" "c.6308+11A>G" "r.(=)" "p.(=)" "" "0000888508" "00000207" "30" "6205" "-39" "6205" "-39" "c.6205-39del" "r.(=)" "p.(=)" "" "0000888509" "00000207" "30" "5928" "-20" "5928" "-20" "c.5928-20A>G" "r.(=)" "p.(=)" "" "0000888510" "00000207" "10" "5821" "-312" "5821" "-312" "c.5821-312C>T" "r.(=)" "p.(=)" "" "0000888511" "00000207" "50" "5800" "0" "5800" "0" "c.5800G>A" "r.(?)" "p.(Val1934Met)" "" "0000888512" "00000207" "50" "5773" "0" "5773" "0" "c.5773C>T" "r.(?)" "p.(Arg1925Trp)" "" "0000888513" "00000207" "30" "5655" "0" "5655" "0" "c.5655A>G" "r.(?)" "p.(Leu1885=)" "" "0000888514" "00000207" "30" "5586" "0" "5586" "0" "c.5586G>A" "r.(?)" "p.(Val1862=)" "" "0000888515" "00000207" "50" "5584" "0" "5584" "0" "c.5584G>A" "r.(?)" "p.(Val1862Met)" "" "0000888516" "00000207" "30" "5382" "14" "5382" "14" "c.5382+14A>C" "r.(=)" "p.(=)" "" "0000888517" "00000207" "30" "4905" "0" "4905" "0" "c.4905C>T" "r.(?)" "p.(Pro1635=)" "" "0000888518" "00000207" "50" "4774" "0" "4774" "0" "c.4774G>T" "r.(?)" "p.(Val1592Leu)" "" "0000888519" "00000207" "30" "4773" "12" "4773" "12" "c.4773+12T>C" "r.(=)" "p.(=)" "" "0000888520" "00000207" "30" "4698" "12" "4698" "12" "c.4698+12A>G" "r.(=)" "p.(=)" "" "0000888521" "00000207" "30" "4559" "239" "4559" "239" "c.4559+239G>A" "r.(=)" "p.(=)" "" "0000888522" "00000207" "10" "4464" "315" "4464" "315" "c.4464+315C>T" "r.(=)" "p.(=)" "" "0000888523" "00000207" "30" "4464" "19" "4464" "19" "c.4464+19G>T" "r.(=)" "p.(=)" "" "0000888524" "00000207" "30" "4464" "12" "4464" "12" "c.4464+12T>C" "r.(=)" "p.(=)" "" "0000888525" "00000207" "50" "4336" "0" "4336" "0" "c.4336A>G" "r.(?)" "p.(Met1446Val)" "" "0000888526" "00000207" "30" "4319" "0" "4319" "0" "c.4319C>T" "r.(?)" "p.(Pro1440Leu)" "" "0000888527" "00000207" "30" "4242" "0" "4242" "0" "c.4242C>T" "r.(?)" "p.(Phe1414=)" "" "0000888528" "00000207" "30" "4239" "0" "4239" "0" "c.4239C>T" "r.(?)" "p.(Gly1413=)" "" "0000888529" "00000207" "50" "4195" "0" "4195" "0" "c.4195A>T" "r.(?)" "p.(Thr1399Ser)" "" "0000888530" "00000207" "10" "4176" "-179" "4176" "-179" "c.4176-179C>T" "r.(=)" "p.(=)" "" "0000888531" "00000207" "50" "4102" "0" "4102" "0" "c.4102G>A" "r.(?)" "p.(Val1368Met)" "" "0000888532" "00000207" "30" "4051" "-15" "4051" "-15" "c.4051-15A>G" "r.(=)" "p.(=)" "" "0000888533" "00000207" "50" "3902" "-8" "3902" "-8" "c.3902-8T>A" "r.(=)" "p.(=)" "" "0000888534" "00000207" "30" "3901" "17" "3901" "17" "c.3901+17T>A" "r.(=)" "p.(=)" "" "0000888535" "00000207" "30" "3810" "0" "3810" "0" "c.3810A>C" "r.(?)" "p.(Arg1270=)" "" "0000888536" "00000207" "50" "3788" "-7" "3788" "-7" "c.3788-7C>A" "r.(=)" "p.(=)" "" "0000888537" "00000207" "10" "3738" "23" "3738" "23" "c.3738+23G>A" "r.(=)" "p.(=)" "" "0000888538" "00000207" "50" "3445" "0" "3445" "0" "c.3445G>C" "r.(?)" "p.(Val1149Leu)" "" "0000888539" "00000207" "30" "3318" "0" "3318" "0" "c.3318T>C" "r.(?)" "p.(His1106=)" "" "0000888540" "00000207" "90" "3112" "0" "3112" "0" "c.3112C>T" "r.(?)" "p.(Gln1038*)" "" "0000888541" "00000207" "30" "3103" "11" "3103" "11" "c.3103+11G>A" "r.(=)" "p.(=)" "" "0000888542" "00000207" "30" "3103" "4" "3103" "4" "c.3103+4C>T" "r.spl?" "p.?" "" "0000888543" "00000207" "30" "3103" "3" "3103" "3" "c.3103+3G>A" "r.spl?" "p.?" "" "0000888544" "00000207" "50" "3041" "0" "3041" "0" "c.3041A>G" "r.(?)" "p.(Gln1014Arg)" "" "0000888545" "00000207" "30" "2829" "-15" "2829" "-15" "c.2829-15A>T" "r.(=)" "p.(=)" "" "0000888546" "00000207" "50" "2749" "0" "2749" "0" "c.2749G>A" "r.(?)" "p.(Asp917Asn)" "" "0000888547" "00000207" "50" "2152" "0" "2152" "0" "c.2152G>T" "r.(?)" "p.(Val718Leu)" "" "0000888548" "00000207" "30" "1892" "14" "1892" "14" "c.1892+14A>C" "r.(=)" "p.(=)" "" "0000888549" "00000207" "70" "1772" "0" "1772" "0" "c.1772G>A" "r.(?)" "p.(Gly591Glu)" "" "0000888550" "00000207" "50" "1765" "0" "1765" "0" "c.1765G>A" "r.(?)" "p.(Val589Ile)" "" "0000888551" "00000207" "50" "1678" "0" "1678" "0" "c.1678A>G" "r.(?)" "p.(Ile560Val)" "" "0000888552" "00000207" "30" "1487" "0" "1487" "0" "c.1487G>A" "r.(?)" "p.(Arg496Gln)" "" "0000888553" "00000207" "50" "1372" "0" "1372" "0" "c.1372T>C" "r.(?)" "p.(Trp458Arg)" "" "0000888554" "00000207" "50" "1326" "0" "1326" "0" "c.1326C>G" "r.(?)" "p.(Ser442Arg)" "" "0000888555" "00000207" "30" "1137" "0" "1137" "0" "c.1137C>T" "r.(?)" "p.(Leu379=)" "" "0000888556" "00000207" "50" "1054" "6" "1054" "6" "c.1054+6T>C" "r.(=)" "p.(=)" "" "0000888557" "00000207" "90" "975" "0" "975" "0" "c.975del" "r.(?)" "p.(Tyr325*)" "" "0000888558" "00000207" "30" "742" "0" "742" "0" "c.742C>G" "r.(?)" "p.(Pro248Ala)" "" "0000888559" "00000207" "50" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Arg227Gln)" "" "0000888560" "00000207" "50" "613" "0" "613" "0" "c.613C>A" "r.(?)" "p.(Gln205Lys)" "" "0000888561" "00000207" "30" "544" "-15" "544" "-15" "c.544-15A>G" "r.(=)" "p.(=)" "" "0000888562" "00000207" "30" "543" "16" "543" "16" "c.543+16C>T" "r.(=)" "p.(=)" "" "0000888563" "00000207" "30" "302" "192" "302" "192" "c.302+192C>T" "r.(=)" "p.(=)" "" "0000888564" "00000207" "50" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Pro85Leu)" "" "0000888565" "00000207" "30" "27" "0" "27" "0" "c.27G>A" "r.(?)" "p.(Leu9=)" "" "0000888566" "00000207" "30" "-3" "0" "-3" "0" "c.-3A>T" "r.(?)" "p.(=)" "" "0000908904" "00000207" "70" "5237" "3" "5237" "3" "c.5237+3A>C" "r.5122_5237del" "p.Cys1708Valfs*34" "" "0000913011" "00000207" "50" "6701" "0" "6701" "0" "c.6701C>T" "r.(?)" "p.(Ser2234Leu)" "" "0000913012" "00000207" "30" "6309" "-51" "6309" "-51" "c.6309-51T>C" "r.(=)" "p.(=)" "" "0000913013" "00000207" "30" "6180" "0" "6180" "0" "c.6180C>T" "r.(?)" "p.(Ile2060=)" "" "0000913014" "00000207" "10" "5927" "18" "5927" "18" "c.5927+18T>C" "r.(=)" "p.(=)" "" "0000913015" "00000207" "30" "5636" "11" "5636" "11" "c.5636+11T>C" "r.(=)" "p.(=)" "" "0000913016" "00000207" "30" "5506" "312" "5506" "312" "c.5506+312T>G" "r.(=)" "p.(=)" "" "0000913017" "00000207" "10" "5383" "-5" "5383" "-3" "c.5383-5_5383-3dup" "r.spl?" "p.?" "" "0000913018" "00000207" "10" "5383" "-4" "5383" "-3" "c.5383-4_5383-3dup" "r.spl?" "p.?" "" "0000913019" "00000207" "10" "5383" "-3" "5383" "-3" "c.5383-3del" "r.spl?" "p.?" "" "0000913020" "00000207" "30" "5383" "-187" "5383" "-187" "c.5383-187C>A" "r.(=)" "p.(=)" "" "0000913021" "00000207" "10" "4943" "419" "4943" "424" "c.4943+419_4943+424dup" "r.(=)" "p.(=)" "" "0000913022" "00000207" "50" "4804" "0" "4804" "0" "c.4804A>G" "r.(?)" "p.(Ile1602Val)" "" "0000913023" "00000207" "10" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "" "0000913024" "00000207" "10" "4760" "0" "4760" "0" "c.4760A>G" "r.(?)" "p.(Lys1587Arg)" "" "0000913025" "00000207" "30" "4560" "-307" "4560" "-307" "c.4560-307A>G" "r.(=)" "p.(=)" "" "0000913026" "00000207" "10" "4281" "0" "4281" "0" "c.4281G>A" "r.(?)" "p.(Thr1427=)" "" "0000913027" "00000207" "10" "4281" "0" "4281" "0" "c.4281G>A" "r.(?)" "p.(Thr1427=)" "" "0000913028" "00000207" "50" "4207" "0" "4207" "0" "c.4207G>C" "r.(?)" "p.(Glu1403Gln)" "" "0000913029" "00000207" "50" "4189" "0" "4189" "0" "c.4189G>A" "r.(?)" "p.(Glu1397Lys)" "" "0000913030" "00000207" "30" "3603" "0" "3603" "0" "c.3603G>A" "r.(?)" "p.(Gly1201=)" "" "0000913031" "00000207" "30" "3535" "230" "3535" "230" "c.3535+230G>A" "r.(=)" "p.(=)" "" "0000913032" "00000207" "50" "2914" "0" "2914" "0" "c.2914C>T" "r.(?)" "p.(Arg972Trp)" "" "0000913033" "00000207" "70" "2842" "0" "2842" "0" "c.2842G>A" "r.(?)" "p.(Gly948Arg)" "" "0000913034" "00000207" "10" "2649" "0" "2649" "0" "c.2649A>G" "r.(?)" "p.(Ile883Met)" "" "0000913035" "00000207" "50" "2509" "0" "2509" "0" "c.2509G>T" "r.(?)" "p.(Val837Leu)" "" "0000913036" "00000207" "50" "2323" "0" "2323" "0" "c.2323C>G" "r.(?)" "p.(Leu775Val)" "" "0000913037" "00000207" "10" "2311" "0" "2311" "0" "c.2311G>A" "r.(?)" "p.(Val771Met)" "" "0000913038" "00000207" "10" "2040" "0" "2040" "0" "c.2040C>A" "r.(?)" "p.(Ile680=)" "" "0000913039" "00000207" "50" "1724" "0" "1724" "0" "c.1724A>G" "r.(?)" "p.(Asp575Gly)" "" "0000913040" "00000207" "50" "1616" "0" "1616" "0" "c.1616C>T" "r.(?)" "p.(Thr539Ile)" "" "0000913041" "00000207" "10" "948" "0" "948" "0" "c.948G>A" "r.(?)" "p.(Gly316=)" "" "0000913042" "00000207" "10" "948" "0" "948" "0" "c.948G>A" "r.(?)" "p.(Gly316=)" "" "0000913043" "00000207" "10" "936" "0" "936" "0" "c.936C>T" "r.(?)" "p.(Pro312=)" "" "0000913044" "00000207" "10" "656" "0" "656" "0" "c.656G>A" "r.(?)" "p.(Arg219Lys)" "" "0000913045" "00000207" "10" "656" "0" "656" "0" "c.656G>A" "r.(?)" "p.(Arg219Lys)" "" "0000913046" "00000207" "30" "544" "-208" "544" "-208" "c.544-208G>T" "r.(=)" "p.(=)" "" "0000913047" "00000207" "30" "544" "-209" "544" "-209" "c.544-209G>T" "r.(=)" "p.(=)" "" "0000913048" "00000207" "30" "543" "200" "543" "200" "c.543+200G>A" "r.(=)" "p.(=)" "" "0000913049" "00000207" "10" "474" "0" "474" "0" "c.474G>A" "r.(?)" "p.(Leu158=)" "" "0000913050" "00000207" "10" "474" "0" "474" "0" "c.474G>A" "r.(?)" "p.(Leu158=)" "" "0000913051" "00000207" "30" "161" "-228" "161" "-228" "c.161-228C>G" "r.(=)" "p.(=)" "" "0000924918" "00000207" "10" "6401" "13" "6401" "13" "c.6401+13A>G" "r.(=)" "p.(=)" "" "0000924919" "00000207" "50" "5774" "0" "5774" "0" "c.5774G>A" "r.(?)" "p.(Arg1925Gln)" "" "0000924920" "00000207" "30" "5562" "0" "5562" "0" "c.5562C>T" "r.(?)" "p.(Phe1854=)" "" "0000924921" "00000207" "50" "5511" "0" "5511" "0" "c.5511G>C" "r.(?)" "p.(Glu1837Asp)" "" "0000924922" "00000207" "10" "5383" "-3" "5383" "-3" "c.5383-3dup" "r.spl?" "p.?" "" "0000924923" "00000207" "30" "4698" "15" "4698" "15" "c.4698+15G>A" "r.(=)" "p.(=)" "" "0000924924" "00000207" "50" "4402" "0" "4402" "0" "c.4402G>A" "r.(?)" "p.(Asp1468Asn)" "" "0000924925" "00000207" "50" "4400" "0" "4400" "0" "c.4400G>A" "r.(?)" "p.(Ser1467Asn)" "" "0000924926" "00000207" "30" "4194" "0" "4194" "0" "c.4194C>T" "r.(?)" "p.(Asp1398=)" "" "0000924927" "00000207" "10" "3633" "0" "3633" "0" "c.3633A>G" "r.(?)" "p.(Glu1211=)" "" "0000924928" "00000207" "30" "3536" "-6" "3536" "-6" "c.3536-6C>T" "r.(=)" "p.(=)" "" "0000924929" "00000207" "10" "3516" "0" "3516" "0" "c.3516G>C" "r.(?)" "p.(Glu1172Asp)" "" "0000924930" "00000207" "50" "2534" "0" "2534" "0" "c.2534T>C" "r.(?)" "p.(Val845Ala)" "" "0000924931" "00000207" "10" "2473" "0" "2473" "0" "c.2473G>A" "r.(?)" "p.(Val825Ile)" "" "0000924932" "00000207" "30" "2148" "0" "2148" "0" "c.2148C>T" "r.(?)" "p.(Ser716=)" "" "0000924933" "00000207" "30" "1312" "-19" "1312" "-19" "c.1312-19T>C" "r.(=)" "p.(=)" "" "0000924934" "00000207" "10" "1195" "-13" "1195" "-13" "c.1195-13C>T" "r.(=)" "p.(=)" "" "0000924935" "00000207" "30" "1017" "0" "1017" "0" "c.1017T>C" "r.(?)" "p.(Thr339=)" "" "0000924936" "00000207" "10" "814" "-14" "814" "-14" "c.814-14dup" "r.(=)" "p.(=)" "" "0000924937" "00000207" "50" "8" "0" "8" "0" "c.8G>T" "r.(?)" "p.(Cys3Phe)" "" "0000929488" "00000207" "50" "6490" "0" "6490" "0" "c.6490C>T" "r.(?)" "p.(Pro2164Ser)" "" "0000929489" "00000207" "50" "6449" "0" "6449" "0" "c.6449C>T" "r.(?)" "p.(Pro2150Leu)" "" "0000929490" "00000207" "30" "6354" "0" "6354" "0" "c.6354C>T" "r.(?)" "p.(=)" "" "0000929491" "00000207" "10" "6183" "0" "6183" "0" "c.6183C>T" "r.(?)" "p.(Gly2061=)" "" "0000929492" "00000207" "30" "5928" "-9" "5928" "-9" "c.5928-9C>T" "r.(=)" "p.(=)" "" "0000929493" "00000207" "90" "5426" "0" "5426" "0" "c.5426del" "r.(?)" "p.(Ile1809Thrfs*15)" "" "0000929494" "00000207" "30" "4774" "-16" "4774" "-16" "c.4774-16G>C" "r.(=)" "p.(=)" "" "0000929495" "00000207" "30" "4698" "14" "4698" "14" "c.4698+14C>T" "r.(=)" "p.(=)" "" "0000929496" "00000207" "50" "3926" "0" "3926" "0" "c.3926G>A" "r.(?)" "p.(Ser1309Asn)" "" "0000929497" "00000207" "50" "3734" "0" "3734" "0" "c.3734A>G" "r.(?)" "p.(Glu1245Gly)" "" "0000929498" "00000207" "50" "3245" "0" "3245" "0" "c.3245G>A" "r.(?)" "p.(Arg1082His)" "" "0000929499" "00000207" "50" "2471" "0" "2471" "0" "c.2471C>T" "r.(?)" "p.(Ser824Leu)" "" "0000929500" "00000207" "50" "2429" "0" "2429" "0" "c.2429T>C" "r.(?)" "p.(Phe810Ser)" "" "0000929501" "00000207" "30" "1881" "0" "1881" "0" "c.1881C>T" "r.(?)" "p.(=)" "" "0000929502" "00000207" "30" "1620" "0" "1620" "0" "c.1620A>T" "r.(?)" "p.(=)" "" "0000936204" "00000207" "50" "2765" "0" "2765" "0" "c.2765A>G" "r.(?)" "p.(Asn922Ser)" "" "0000949136" "00000207" "10" "6204" "339" "6204" "339" "c.6204+339C>G" "r.(=)" "p.(=)" "" "0000949137" "00000207" "50" "5927" "249" "5927" "249" "c.5927+249A>G" "r.(=)" "p.(=)" "" "0000949138" "00000207" "10" "5758" "-170" "5758" "-170" "c.5758-170C>T" "r.(=)" "p.(=)" "" "0000949139" "00000207" "50" "5461" "0" "5461" "0" "c.5461G>A" "r.(?)" "p.(Asp1821Asn)" "" "0000949140" "00000207" "50" "5002" "0" "5002" "0" "c.5002G>A" "r.(?)" "p.(Val1668Ile)" "" "0000949141" "00000207" "50" "4640" "0" "4640" "0" "c.4640C>T" "r.(?)" "p.(Pro1547Leu)" "" "0000949142" "00000207" "10" "4465" "-415" "4465" "-415" "c.4465-415G>A" "r.(=)" "p.(=)" "" "0000949143" "00000207" "10" "3902" "-278" "3902" "-278" "c.3902-278C>A" "r.(=)" "p.(=)" "" "0000949144" "00000207" "30" "3787" "60" "3787" "60" "c.3787+60T>C" "r.(=)" "p.(=)" "" "0000949145" "00000207" "10" "3739" "-66" "3739" "-66" "c.3739-66C>T" "r.(=)" "p.(=)" "" "0000949146" "00000207" "30" "3570" "0" "3570" "0" "c.3570T>C" "r.(?)" "p.(=)" "" "0000949147" "00000207" "30" "2829" "-167" "2829" "-167" "c.2829-167C>T" "r.(=)" "p.(=)" "" "0000949148" "00000207" "30" "2657" "-3" "2657" "-2" "c.2657-3_2657-2del" "r.spl?" "p.?" "" "0000949149" "00000207" "50" "2568" "0" "2568" "0" "c.2568G>C" "r.(?)" "p.(Trp856Cys)" "" "0000949150" "00000207" "50" "2377" "0" "2377" "0" "c.2377T>A" "r.(?)" "p.(Tyr793Asn)" "" "0000949151" "00000207" "30" "2338" "-308" "2338" "-308" "c.2338-308T>G" "r.(=)" "p.(=)" "" "0000949152" "00000207" "10" "2116" "-260" "2116" "-260" "c.2116-260G>A" "r.(=)" "p.(=)" "" "0000949153" "00000207" "30" "2115" "18" "2115" "18" "c.2115+18G>A" "r.(=)" "p.(=)" "" "0000949154" "00000207" "30" "1716" "-17" "1716" "-17" "c.1716-17C>T" "r.(=)" "p.(=)" "" "0000949155" "00000207" "50" "1384" "0" "1384" "0" "c.1384G>A" "r.(?)" "p.(Asp462Asn)" "" "0000949156" "00000207" "30" "1125" "0" "1125" "0" "c.1125G>C" "r.(?)" "p.(=)" "" "0000949157" "00000207" "50" "1063" "0" "1063" "0" "c.1063T>G" "r.(?)" "p.(Cys355Gly)" "" "0000949158" "00000207" "30" "1046" "0" "1046" "0" "c.1046A>G" "r.(?)" "p.(Asn349Ser)" "" "0000949159" "00000207" "10" "813" "338" "813" "338" "c.813+338C>G" "r.(=)" "p.(=)" "" "0000949160" "00000207" "30" "660" "0" "660" "0" "c.660G>A" "r.(?)" "p.(=)" "" "0000949161" "00000207" "10" "543" "307" "543" "307" "c.543+307A>T" "r.(=)" "p.(=)" "" "0000949162" "00000207" "10" "543" "153" "543" "153" "c.543+153C>G" "r.(=)" "p.(=)" "" "0000949163" "00000207" "10" "421" "110" "421" "110" "c.421+110G>A" "r.(=)" "p.(=)" "" "0000949164" "00000207" "10" "303" "-39" "303" "-39" "c.303-39C>A" "r.(=)" "p.(=)" "" "0000949165" "00000207" "10" "303" "-468" "303" "-468" "c.303-468G>C" "r.(=)" "p.(=)" "" "0000949166" "00000207" "50" "160" "151" "160" "151" "c.160+151A>G" "r.(=)" "p.(=)" "" "0000949167" "00000207" "10" "160" "56" "160" "56" "c.160+56A>G" "r.(=)" "p.(=)" "" "0000949168" "00000207" "50" "-20" "0" "-20" "0" "c.-20G>T" "r.(?)" "p.(=)" "" "0000965106" "00000207" "30" "6552" "0" "6552" "0" "c.6552A>G" "r.(?)" "p.(=)" "" "0000965107" "00000207" "50" "6107" "0" "6107" "0" "c.6107A>T" "r.(?)" "p.(Lys2036Met)" "" "0000965108" "00000207" "30" "6102" "0" "6102" "0" "c.6102C>T" "r.(?)" "p.(=)" "" "0000965109" "00000207" "10" "5763" "0" "5763" "0" "c.5763T>C" "r.(?)" "p.(Tyr1921=)" "" "0000965111" "00000207" "50" "5339" "0" "5339" "0" "c.5339A>G" "r.(?)" "p.(Asn1780Ser)" "" "0000965113" "00000207" "30" "5286" "0" "5286" "0" "c.5286C>A" "r.(?)" "p.(=)" "" "0000965114" "00000207" "50" "4759" "0" "4759" "0" "c.4759A>C" "r.(?)" "p.(Lys1587Gln)" "" "0000965115" "00000207" "10" "4440" "0" "4440" "0" "c.4440G>T" "r.(?)" "p.(Gly1480=)" "" "0000965116" "00000207" "30" "4275" "0" "4275" "0" "c.4275A>G" "r.(?)" "p.(=)" "" "0000965117" "00000207" "30" "4107" "0" "4107" "0" "c.4107A>G" "r.(?)" "p.(=)" "" "0000965118" "00000207" "30" "3975" "0" "3975" "0" "c.3975A>G" "r.(?)" "p.(=)" "" "0000965119" "00000207" "50" "3788" "0" "3788" "0" "c.3788A>G" "r.(?)" "p.(Asp1263Gly)" "" "0000965120" "00000207" "10" "3684" "0" "3684" "0" "c.3684G>A" "r.(?)" "p.(Arg1228=)" "" "0000965121" "00000207" "10" "2868" "0" "2868" "0" "c.2868C>T" "r.(?)" "p.(Thr956=)" "" "0000965122" "00000207" "30" "2016" "0" "2016" "0" "c.2016G>A" "r.(?)" "p.(=)" "" "0000965124" "00000207" "30" "1233" "0" "1233" "0" "c.1233T>C" "r.(?)" "p.(=)" "" "0000965125" "00000207" "50" "352" "0" "352" "0" "c.352A>G" "r.(?)" "p.(Lys118Glu)" "" "0000978328" "00000207" "50" "6765" "0" "6765" "0" "c.6765del" "r.(?)" "p.(Val2256*)" "" "0000978329" "00000207" "90" "6430" "0" "6430" "0" "c.6430C>T" "r.(?)" "p.(Arg2144*)" "" "0000978330" "00000207" "30" "6309" "-16" "6309" "-15" "c.6309-16_6309-15del" "r.(=)" "p.(=)" "" "0000978331" "00000207" "30" "4050" "19" "4050" "19" "c.4050+19G>A" "r.(=)" "p.(=)" "" "0000978332" "00000207" "50" "3508" "0" "3508" "0" "c.3508G>A" "r.(?)" "p.(Asp1170Asn)" "" "0000978333" "00000207" "50" "2601" "0" "2601" "0" "c.2601C>T" "r.(?)" "p.(=)" "" "0000978334" "00000207" "30" "2115" "3" "2115" "3" "c.2115+3A>G" "r.spl?" "p.?" "" "0000978335" "00000207" "50" "1945" "0" "1945" "0" "c.1945A>T" "r.(?)" "p.(Ile649Phe)" "" "0000978336" "00000207" "30" "1194" "17" "1194" "17" "c.1194+17C>G" "r.(=)" "p.(=)" "" "0000978337" "00000207" "50" "893" "0" "893" "0" "c.893C>T" "r.(?)" "p.(Thr298Ile)" "" "0000978338" "00000207" "50" "333" "0" "333" "0" "c.333G>T" "r.(?)" "p.(Arg111Ser)" "" "0000987150" "00000207" "70" "3124" "0" "3125" "0" "c.3124_3125insGAA" "r.(?)" "p.(Ser1042Ter)" "" "0000987326" "00000207" "70" "4668" "0" "4668" "0" "c.4668del" "r.(?)" "p.(Lys1556AsnfsTer3)" "" "0000987334" "00000207" "70" "422" "0" "543" "0" "c.422_543del" "r.(?)" "p.(Asn141SerfsTer27)" "" "0000997405" "00000207" "50" "6683" "0" "6683" "0" "c.6683A>G" "r.(?)" "p.(Asp2228Gly)" "" "0000997406" "00000207" "30" "6516" "0" "6516" "0" "c.6516C>T" "r.(?)" "p.(=)" "" "0000997407" "00000207" "50" "5584" "0" "5584" "0" "c.5584G>T" "r.(?)" "p.(Val1862Leu)" "" "0000997408" "00000207" "50" "4699" "-10" "4699" "-10" "c.4699-10T>C" "r.(=)" "p.(=)" "" "0000997409" "00000207" "90" "4577" "0" "4577" "0" "c.4577G>A" "r.(?)" "p.(Trp1526*)" "" "0000997410" "00000207" "30" "4317" "0" "4317" "0" "c.4317C>T" "r.(?)" "p.(=)" "" "0000997411" "00000207" "30" "4278" "0" "4278" "0" "c.4278C>T" "r.(?)" "p.(=)" "" "0000997412" "00000207" "30" "4050" "18" "4050" "18" "c.4050+18C>T" "r.(=)" "p.(=)" "" "0000997414" "00000207" "50" "3763" "0" "3763" "0" "c.3763A>C" "r.(?)" "p.(Ser1255Arg)" "" "0000997416" "00000207" "70" "3235" "0" "3235" "0" "c.3235C>T" "r.(?)" "p.(Arg1079*)" "" "0000997417" "00000207" "30" "3104" "-9" "3104" "-9" "c.3104-9T>G" "r.(=)" "p.(=)" "" "0000997418" "00000207" "50" "1651" "0" "1651" "0" "c.1651C>G" "r.(?)" "p.(His551Asp)" "" "0000997419" "00000207" "50" "1510" "-18" "1510" "-18" "c.1510-18A>C" "r.(=)" "p.(=)" "" "0000997420" "00000207" "50" "1328" "0" "1328" "0" "c.1328G>A" "r.(?)" "p.(Arg443Lys)" "" "0000997421" "00000207" "50" "1252" "0" "1252" "0" "c.1252G>A" "r.(?)" "p.(Glu418Lys)" "" "0000997422" "00000207" "90" "1194" "1" "1194" "1" "c.1194+1G>A" "r.spl?" "p.?" "" "0000997423" "00000207" "50" "983" "0" "983" "0" "c.983A>G" "r.(?)" "p.(Asn328Ser)" "" "0000997424" "00000207" "50" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Pro218Ser)" "" "0000997425" "00000207" "30" "303" "-11" "303" "-11" "c.303-11A>G" "r.(=)" "p.(=)" "" "0001014471" "00000207" "50" "6734" "0" "6734" "0" "c.6734C>G" "r.(?)" "p.(Ala2245Gly)" "" "0001014472" "00000207" "30" "6684" "0" "6684" "0" "c.6684C>T" "r.(?)" "p.(=)" "" "0001014473" "00000207" "10" "6450" "0" "6450" "0" "c.6450G>A" "r.(?)" "p.(Pro2150=)" "" "0001014474" "00000207" "50" "5870" "0" "5870" "0" "c.5870A>C" "r.(?)" "p.(Lys1957Thr)" "" "0001014475" "00000207" "50" "5502" "0" "5502" "0" "c.5502G>T" "r.(?)" "p.(Arg1834Ser)" "" "0001014476" "00000207" "50" "5282" "0" "5282" "0" "c.5282A>C" "r.(?)" "p.(Lys1761Thr)" "" "0001014477" "00000207" "30" "4518" "0" "4518" "0" "c.4518G>T" "r.(?)" "p.(=)" "" "0001014478" "00000207" "10" "3945" "0" "3945" "0" "c.3945G>A" "r.(?)" "p.(Gly1315=)" "" "0001014479" "00000207" "50" "3818" "0" "3818" "0" "c.3818G>A" "r.(?)" "p.(Arg1273Gln)" "" "0001014480" "00000207" "30" "3777" "0" "3777" "0" "c.3777T>C" "r.(?)" "p.(=)" "" "0001014481" "00000207" "10" "3364" "0" "3364" "0" "c.3364C>T" "r.(?)" "p.(Leu1122=)" "" "0001014482" "00000207" "30" "3242" "-28" "3242" "-16" "c.3242-28_3242-16del" "r.(=)" "p.(=)" "" "0001014483" "00000207" "50" "3203" "0" "3203" "0" "c.3203G>T" "r.(?)" "p.(Arg1068Leu)" "" "0001014484" "00000207" "50" "2509" "0" "2509" "0" "c.2509G>T" "r.(?)" "p.(Val837Leu)" "" "0001014485" "00000207" "50" "1930" "0" "1930" "0" "c.1930A>G" "r.(?)" "p.(Met644Val)" "" "0001014486" "00000207" "50" "1592" "0" "1592" "0" "c.1592A>G" "r.(?)" "p.(Lys531Arg)" "" "0001014487" "00000207" "50" "1054" "0" "1054" "0" "c.1054A>T" "r.(?)" "p.(Thr352Ser)" "" "0001014488" "00000207" "50" "1007" "0" "1007" "0" "c.1007G>A" "r.(?)" "p.(Gly336Asp)" "" "0001014489" "00000207" "70" "658" "0" "658" "0" "c.658del" "r.(?)" "p.(Glu220Argfs*17)" "" "0001025558" "00000207" "30" "6768" "0" "6768" "0" "c.6768G>A" "r.(?)" "p.(=)" "" "0001025559" "00000207" "50" "6487" "0" "6487" "0" "c.6487T>A" "r.(?)" "p.(Phe2163Ile)" "" "0001025560" "00000207" "30" "6402" "-14" "6402" "-14" "c.6402-14T>A" "r.(=)" "p.(=)" "" "0001025561" "00000207" "50" "6309" "-13" "6309" "-13" "c.6309-13T>A" "r.(=)" "p.(=)" "" "0001025562" "00000207" "50" "3673" "0" "3673" "0" "c.3673A>C" "r.(?)" "p.(Ile1225Leu)" "" "0001025563" "00000207" "50" "3522" "0" "3522" "0" "c.3522C>G" "r.(?)" "p.(Asp1174Glu)" "" "0001025564" "00000207" "30" "2748" "0" "2748" "0" "c.2748C>T" "r.(?)" "p.(=)" "" "0001025565" "00000207" "30" "2543" "-3" "2543" "-3" "c.2543-3C>T" "r.spl?" "p.?" "" "0001025566" "00000207" "50" "2149" "0" "2149" "0" "c.2149G>A" "r.(?)" "p.(Val717Met)" "" "0001025567" "00000207" "30" "1914" "0" "1914" "0" "c.1914G>C" "r.(?)" "p.(=)" "" "0001025568" "00000207" "50" "1195" "-10" "1195" "-10" "c.1195-10C>G" "r.(=)" "p.(=)" "" "0001025569" "00000207" "30" "615" "0" "615" "0" "c.615A>G" "r.(?)" "p.(=)" "" "0001025570" "00000207" "50" "127" "0" "127" "0" "c.127C>T" "r.(?)" "p.(Arg43Trp)" "" "0001029760" "00000207" "30" "4848" "0" "4848" "0" "c.4848C>G" "r.(?)" "p.(Ala1616=)" "" "0001037119" "00000207" "50" "6722" "0" "6722" "0" "c.6722T>C" "r.(?)" "p.(Val2241Ala)" "" "0001037120" "00000207" "50" "5563" "0" "5563" "0" "c.5563G>T" "r.(?)" "p.(Ala1855Ser)" "" "0001037121" "00000207" "50" "2338" "-3" "2338" "-2" "c.2338-3_2338-2del" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 191 "{{screeningid}}" "{{variantid}}" "0000002230" "0000020523" "0000002232" "0000020524" "0000002233" "0000020525" "0000002234" "0000020526" "0000002237" "0000020527" "0000002239" "0000020528" "0000002242" "0000020529" "0000002244" "0000020530" "0000002245" "0000020531" "0000002246" "0000020532" "0000002248" "0000020533" "0000002250" "0000020534" "0000002251" "0000020535" "0000002253" "0000020536" "0000002254" "0000020545" "0000002254" "0000020550" "0000002255" "0000020537" "0000002257" "0000020538" "0000002260" "0000020546" "0000002260" "0000020551" "0000002263" "0000020539" "0000002264" "0000020540" "0000002265" "0000020541" "0000002269" "0000020547" "0000002269" "0000020552" "0000002270" "0000020542" "0000002271" "0000020548" "0000002271" "0000020553" "0000002273" "0000020549" "0000002273" "0000020554" "0000002282" "0000020543" "0000002286" "0000020544" "0000046733" "0000075213" "0000046734" "0000075214" "0000046735" "0000075215" "0000046736" "0000075216" "0000046737" "0000075217" "0000046738" "0000075218" "0000046739" "0000075219" "0000046740" "0000075220" "0000046741" "0000075221" "0000046742" "0000075222" "0000046743" "0000075223" "0000046744" "0000075224" "0000046745" "0000075225" "0000046746" "0000075226" "0000046747" "0000075227" "0000046748" "0000075228" "0000046749" "0000075229" "0000046750" "0000075230" "0000046751" "0000075231" "0000046752" "0000075232" "0000046753" "0000075233" "0000046754" "0000075234" "0000046755" "0000075235" "0000046756" "0000075236" "0000046757" "0000075237" "0000046758" "0000075238" "0000046759" "0000075239" "0000046760" "0000075240" "0000046761" "0000075241" "0000046762" "0000075242" "0000046763" "0000075243" "0000046764" "0000075244" "0000046765" "0000075245" "0000046766" "0000075246" "0000046767" "0000075247" "0000046768" "0000075248" "0000046769" "0000075249" "0000046770" "0000075250" "0000046771" "0000075251" "0000046772" "0000075252" "0000046773" "0000075253" "0000046774" "0000075254" "0000046775" "0000075255" "0000046776" "0000075256" "0000046777" "0000075257" "0000046778" "0000075258" "0000046779" "0000075259" "0000046780" "0000075260" "0000046781" "0000075261" "0000046782" "0000075262" "0000046783" "0000075263" "0000046784" "0000075264" "0000046785" "0000075265" "0000046786" "0000075266" "0000046787" "0000075267" "0000046788" "0000075268" "0000046789" "0000075269" "0000046790" "0000075270" "0000046791" "0000075271" "0000046792" "0000075272" "0000046793" "0000075273" "0000046794" "0000075274" "0000046795" "0000075275" "0000046796" "0000075276" "0000046797" "0000075277" "0000046798" "0000075278" "0000046799" "0000075279" "0000046800" "0000075280" "0000046801" "0000075281" "0000046802" "0000075282" "0000046803" "0000075283" "0000046804" "0000075284" "0000046805" "0000075285" "0000046806" "0000075286" "0000046807" "0000075287" "0000046808" "0000075288" "0000046809" "0000075289" "0000046810" "0000075290" "0000046811" "0000075291" "0000046812" "0000075292" "0000046813" "0000075293" "0000046814" "0000075294" "0000046815" "0000075295" "0000046816" "0000075296" "0000046817" "0000075297" "0000046818" "0000075298" "0000046819" "0000075299" "0000046820" "0000075300" "0000046821" "0000075301" "0000046822" "0000075302" "0000046823" "0000075303" "0000046824" "0000075304" "0000046825" "0000075305" "0000046826" "0000075306" "0000046827" "0000075307" "0000046828" "0000075308" "0000046829" "0000075309" "0000046830" "0000075310" "0000046831" "0000075311" "0000046832" "0000075312" "0000046833" "0000075313" "0000046834" "0000075314" "0000046835" "0000075315" "0000046836" "0000075316" "0000046837" "0000075317" "0000046838" "0000075318" "0000046839" "0000075319" "0000046840" "0000075320" "0000046841" "0000075321" "0000046842" "0000075322" "0000046843" "0000075323" "0000046844" "0000075324" "0000046845" "0000075325" "0000046846" "0000075326" "0000046847" "0000075327" "0000046848" "0000075328" "0000046849" "0000075329" "0000046850" "0000075330" "0000046851" "0000075331" "0000046852" "0000075332" "0000046853" "0000075333" "0000046854" "0000075334" "0000046855" "0000075335" "0000046856" "0000075336" "0000046857" "0000075337" "0000046858" "0000075338" "0000046859" "0000075339" "0000046860" "0000075340" "0000046861" "0000075341" "0000046862" "0000075342" "0000046863" "0000075343" "0000046864" "0000075344" "0000046865" "0000075345" "0000046866" "0000075346" "0000046867" "0000075347" "0000046868" "0000075348" "0000046869" "0000075349" "0000046870" "0000075350" "0000046871" "0000075351" "0000046872" "0000075352" "0000046873" "0000075353" "0000046874" "0000075354" "0000046875" "0000075355" "0000046876" "0000075356" "0000046877" "0000075357" "0000046878" "0000075358" "0000046879" "0000075359" "0000046880" "0000075360" "0000105438" "0000001337" "0000268175" "0000601050" "0000295874" "0000652563" "0000295875" "0000652564" "0000295876" "0000652565" "0000316680" "0000698842" "0000429431" "0000908904" "0000440046" "0000936204" "0000452784" "0000987326" "0000452805" "0000987150" "0000452866" "0000987334"