### LOVD-version 3000-26c ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FBN1) # 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}}" "FBN1" "fibrillin 1" "15" "q21.1" "unknown" "NG_008805.2" "UD_129076430875" "" "https://www.LOVD.nl/FBN1" "UMD Locus Specific Databases " "1" "3603" "2200" "134797" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/FBN1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2020-04-02 12:14:32" "00006" "2021-06-29 10:38:18" ## 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}}" "00007761" "FBN1" "fibrillin 1" "001" "NM_000138.4" "" "NP_000129.3" "" "" "" "-395" "11300" "8616" "48937985" "48700503" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 13 "{{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" "" "" "00127" "SSKS" "stiff skin syndrome (SSKS)" "" "184900" "" "" "" "00006" "2013-05-07 07:36:09" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00236" "ACMID" "dysplasia, acromicric (ACMID)" "" "102370" "" "" "" "00006" "2013-10-09 21:31:37" "00006" "2015-12-07 07:11:25" "00237" "ECTOL-1" "ectopia lentis, type 1 (ECTOL-1)" "" "129600" "" "" "" "00006" "2013-10-09 21:32:43" "00006" "2015-12-07 07:11:25" "00238" "GPHYSD-2" "dysplasia, geleophysic, type 2 (GPHYSD-2)" "" "614185" "" "" "" "00006" "2013-10-09 21:33:58" "00006" "2015-12-07 07:11:25" "00239" "MFS" "syndrome, Marfan (MFS)" "" "154700" "" "autosomal dominant" "" "00006" "2013-10-09 21:34:54" "00006" "2019-07-22 15:53:52" "00240" "MASS" "MASS syndrome (MASS)" "" "604308" "" "" "" "00006" "2013-10-09 21:35:58" "00006" "2015-12-07 07:11:25" "00241" "WMS-2" "Weill-Marchesani syndrome, type 2 (WMS-2)" "" "608328" "" "" "" "00006" "2013-10-09 21:37:37" "00006" "2015-12-07 07:11:25" "04214" "retinal disease" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00006" "2020-08-25 10:54:40" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05911" "MFLS" "syndrome, lipodystrophy, Marfan (MFLS)" "AD" "616914" "" "" "" "00006" "2021-03-23 08:35:25" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{geneid}}" "{{diseaseid}}" "FBN1" "00127" "FBN1" "00236" "FBN1" "00237" "FBN1" "00238" "FBN1" "00239" "FBN1" "00240" "FBN1" "00241" "FBN1" "05911" ## Individuals ## Do not remove or alter this header ## ## Count = 322 "{{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}}" "00003031" "" "" "" "1" "" "00141" "" "" "F" "no" "Russian Federation" "" "0" "" "" "russian" "" "00003035" "" "" "" "1" "" "00141" "" "" "F" "no" "Russian Federation" "" "0" "" "" "russian" "" "00004042" "" "" "" "1" "" "00141" "" "" "M" "no" "- (not applicable)" ">01y" "0" "" "" "russian" "" "00035734" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035735" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035736" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035737" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035738" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035739" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035740" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035741" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035742" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035743" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035744" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035745" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035746" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035747" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035748" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035749" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035750" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035751" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035752" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035753" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035754" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035755" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035756" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035757" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035758" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035759" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035760" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035761" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035762" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035763" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035764" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035765" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035766" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035767" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035768" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035769" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035770" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035771" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035772" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035773" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035774" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035775" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035776" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035777" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035778" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035779" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035780" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035781" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035782" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035783" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035784" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035785" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035786" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035787" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035788" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035789" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035790" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035791" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035792" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035793" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035794" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035795" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035796" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035797" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035798" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035799" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035800" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00050496" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected mother/child" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00053061" "" "" "" "1" "" "01450" "" "" "M" "" "Iran" "" "0" "" "" "Iranian" "" "00053062" "" "" "" "1" "" "00154" "" "" "F" "" "Sweden" ">5y" "0" "" "" "" "" "00053063" "" "" "" "1" "" "00154" "" "" "F" "" "Sweden" ">41y" "0" "" "" "" "" "00053064" "" "" "" "1" "" "00154" "" "" "M" "" "Finland" ">41y" "0" "" "" "" "" "00053065" "" "" "" "1" "" "00154" "" "" "M" "" "Jordan" ">37y" "0" "" "" "" "" "00053066" "" "" "" "1" "" "00154" "" "" "M" "" "Sweden" ">9y" "0" "" "" "" "" "00053067" "" "" "" "1" "" "01449" "" "" "M" "no" "" "" "0" "" "" "" "" "00053068" "" "" "" "1" "" "00006" "{PMID:Carmignac 2014:23103230}, {DOI:Carmignac 2014:10.1016/j.ajhg.2012.10.002}" "" "M" "no" "" ">15y" "0" "" "" "" "" "00081038" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00100212" "" "" "" "1" "" "01741" "" "" "" "" "Germany" "" "0" "" "" "" "" "00134051" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00151813" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00152020" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00164695" "" "" "00164697" "1" "" "02497" "" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00164697" "" "" "" "3" "" "02497" "" "" "M" "no" "Netherlands" "" "0" "yes" "" "white" "" "00181211" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00207904" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00207966" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00229824" "" "" "" "1" "" "02515" "" "" "M" "no" "Italy" "27y" "0" "" "" "" "Individual 1" "00229832" "" "" "" "1" "" "02515" "" "" "F" "?" "Italy" "" "0" "" "" "" "individual 2" "00234330" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00239167" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00248176" "" "" "" "1" "" "03367" "" "" "M" "" "Russia" ">33y" "0" "" "" "" "" "00269781" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00269782" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00274062" "" "" "" "1" "" "00006" "{PMID:Wei 2011:22216297}" "" "" "" "China" "" "0" "" "" "" "P3" "00289348" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00291232" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291233" "" "" "" "0" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291234" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291235" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291236" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291237" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291238" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291239" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291240" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291241" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291242" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291243" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291244" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291245" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291246" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291247" "" "" "" "170" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291248" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291249" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291250" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291251" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291252" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291253" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291254" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291255" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291256" "" "" "" "0" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291257" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291258" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291259" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291260" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295152" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295153" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295268" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295269" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295270" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295271" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295272" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295273" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296004" "" "" "" "1" "" "03644" "Author 2020, submitted" "" "F" "no" "Spain" ">49y" "0" "" "" "white" "" "00296005" "" "" "" "1" "" "03644" "Author 2020, submitted" "" "M" "no" "(Spain)" ">54y" "0" "" "" "white" "" "00296006" "" "" "" "1" "" "03644" "Author 2020, submitted" "" "F" "no" "(Spain)" ">42y" "0" "" "" "white" "" "00296008" "" "" "" "1" "" "03644" "Author 2020, submitted" "" "F" "no" "(Spain)" ">34y" "0" "12y" "" "white" "" "00296009" "" "" "" "1" "" "03644" "Author 2020, submitted" "" "M" "no" "(Spain)" ">42y" "0" "" "" "white" "" "00296010" "" "" "" "1" "" "03644" "Author 2020, submitted" "" "M" "no" "(Spain)" ">36y" "0" "" "" "white" "" "00296011" "" "" "" "1" "" "03644" "Author 2020, submitted" "" "M" "no" "(Spain)" ">22y" "0" "" "" "white" "" "00296012" "" "" "" "1" "" "03644" "Author 2020, submitted" "" "F" "no" "(Spain)" ">26y" "0" "" "" "" "" "00296013" "" "" "" "1" "" "03644" "Author 2020, submitted" "" "M" "no" "(Spain)" ">17y" "0" "" "" "white" "" "00296014" "" "" "" "1" "" "03644" "Author 2020, submitted" "" "M" "no" "Spain" ">23y" "0" "" "" "white" "" "00296015" "" "" "" "1" "" "03644" "Author 2020, submitted" "" "M" "no" "Spain" ">43y" "0" "" "" "white" "" "00296016" "" "" "" "1" "" "03644" "Author 2020, submitted" "" "F" "no" "Spain" ">14y" "0" "" "" "white" "" "00296137" "" "" "" "1" "" "03644" "Author 2020, submitted" "" "M" "no" "Spain" "20y" "0" "" "" "white" "" "00296249" "" "" "" "1" "" "03644" "Author 2020, submitted" "" "F" "no" "Spain" "08y" "0" "" "" "white" "" "00296250" "" "" "" "1" "" "03644" "Author 2020, submitted" "" "F" "no" "Spain" ">43y" "0" "" "" "white" "" "00296251" "" "" "" "1" "" "03644" "Author 2020, submitted" "" "F" "no" "Spain" ">43y" "0" "" "" "white" "" "00296252" "" "" "" "1" "" "03644" "Author 2020, submitted" "" "M" "no" "Spain" "05y" "0" "" "" "white" "" "00296253" "" "" "" "1" "" "03644" "Author 2020, submitted" "" "F" "no" "Spain" ">43y" "0" "" "" "white" "" "00296254" "" "" "" "1" "" "03644" "Author 2020, submitted" "" "F" "no" "" ">54y" "0" "" "" "white" "" "00296255" "" "" "" "1" "" "03644" "Author 2020, submitted" "" "M" "no" "Spain" ">43y" "0" "" "" "white" "" "00296256" "" "" "" "1" "" "03644" "Author 2020, submitted" "" "M" "no" "Spain" "40y" "0" "" "" "white" "" "00296257" "" "" "" "1" "" "03644" "Author 2020, submitted" "" "M" "no" "Spain" "28y" "0" "" "" "white" "" "00296676" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00296726" "" "" "" "1" "" "00006" "{PMID:Haskell 2017:28611029}" "analysis 55 patients" "F" "" "United States" "" "0" "" "" "white" "NCG_00721" "00303307" "" "" "" "1" "" "02958" "" "" "F" "no" "India" "" "0" "" "" "" "P1" "00303308" "" "" "" "1" "" "02958" "" "" "F" "no" "India" "" "0" "" "" "" "P3" "00303309" "" "" "" "2" "" "02958" "" "" "M" "yes" "India" "" "0" "" "" "" "P4" "00303310" "" "" "" "2" "" "02958" "" "" "M" "no" "India" "" "0" "" "" "" "P5" "00303311" "" "" "" "3" "" "02958" "" "" "M" "no" "India" "" "0" "" "" "" "P6" "00303312" "" "" "" "2" "" "02958" "" "" "F" "no" "India" "" "0" "" "" "" "P8" "00303313" "" "" "" "2" "" "02958" "" "" "F" "no" "India" "" "0" "" "" "" "P9" "00303314" "" "" "" "1" "" "02958" "" "" "F" "no" "India" "" "0" "" "" "" "P14" "00303315" "" "" "" "2" "" "02958" "" "" "M" "no" "India" "" "0" "" "" "" "P18" "00303316" "" "" "" "1" "" "02958" "" "" "M" "no" "India" "" "0" "" "" "" "P20" "00303317" "" "" "" "2" "" "02958" "" "" "M" "no" "India" "" "0" "" "" "" "P21" "00303318" "" "" "" "1" "" "02958" "" "" "M" "no" "India" "" "0" "" "" "" "P22" "00303319" "" "" "" "3" "" "02958" "" "" "M" "no" "India" "" "0" "" "" "" "P25" "00303320" "" "" "" "3" "" "02958" "" "" "F" "yes" "India" "" "0" "" "" "" "P26" "00303321" "" "" "" "1" "" "02958" "" "" "M" "no" "India" "" "0" "" "" "" "P28" "00303322" "" "" "" "1" "" "02958" "" "" "F" "no" "India" "" "0" "" "" "" "P29" "00303323" "" "" "" "3" "" "02958" "" "" "M" "no" "India" "" "0" "" "" "" "P30" "00303324" "" "" "" "2" "" "02958" "" "" "F" "no" "India" "" "0" "" "" "" "P32" "00303325" "" "" "" "2" "" "02958" "" "" "F" "no" "India" "" "0" "" "" "" "P34" "00304468" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304469" "" "" "" "33" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304470" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306166" "" "" "" "2" "" "03731" "{PMID:Chesneau 2021:33414558}, {DOI:Chesneau 2021:10.1038/s41431-020-00797-3}" "2-generation family, affected mosaic mother/daughter" "F" "no" "France" "" "0" "" "" "" "MF00140-M0018" "00306167" "" "" "" "3" "" "03731" "{PMID:Chesneau 2021:33414558}, {DOI:Chesneau 2021:10.1038/s41431-020-00797-3}" "2-generation family, affected mosaic father/son and fetus" "M" "no" "France" "" "0" "" "" "" "MF0050-M0083" "00306168" "" "" "" "4" "" "03731" "{PMID:Chesneau 2021:33414558}, {DOI:Chesneau 2021:10.1038/s41431-020-00797-3}" "3-generation family, affected mosaic mother, son and 2 grand-children (F, 3M)" "M" "no" "France" "" "0" "" "" "" "MF0140-M0235" "00307945" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "simplex case" "F" "" "" "" "0" "" "" "" "16DG0105" "00324286" "" "" "" "1" "" "02958" "" "" "F" "no" "India" "" "0" "" "" "" "P16" "00324287" "" "" "" "1" "" "02958" "" "" "M" "no" "India" "" "0" "" "" "" "P27" "00325390" "" "" "" "1" "" "00006" "{PMID:Hong 2020:33333793}" "" "F" "" "Taiwan" "" "0" "" "" "" "Pat3" "00326211" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00328390" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690806" "00331433" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "no" "" "" "0" "" "" "Arab" "16DG0010" "00331434" "" "" "" "5" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 5 affected (2F, 3M)" "F;M" "no" "" "" "0" "" "" "Arab" "11DG0409, 11DG0410, 11DG0411, 11DG0412, 11DG0414" "00331435" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "no" "" "" "0" "" "" "" "15DG1140" "00331436" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "no" "" "" "0" "" "" "Arab" "13DG0338" "00331437" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "no" "" "" "0" "" "" "Arab" "16DG0105" "00359497" "" "" "" "1" "" "01396" "" "" "" "" "Brazil" "" "0" "" "" "" "" "00359594" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00363345" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM650" "00363362" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM769" "00363384" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM679" "00372403" "" "" "" "5" "" "04070" "" "" "M" "yes" "China" "30y-40y" "" "" "" "African" "2020F112" "00372767" "" "" "" "1" "" "04070" "{PMID:Zhao 2020:32676886}" "2-generation family, affected mother (adopted) and carrier daughter" "F" "?" "China" "30y" "0" "" "" "African" "2018F158" "00376463" "" "" "" "1" "" "04101" "" "" "F" "yes" "" "" "" "" "" "" "EENT001" "00376464" "" "" "" "1" "" "04101" "" "" "" "" "" "" "" "" "" "" "EENT002" "00376659" "" "" "" "1" "" "04101" "" "" "" "" "China" "" "" "" "" "" "EENT003" "00376660" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT004" "00376661" "" "" "" "1" "" "04101" "" "" "" "" "China" "" "" "" "" "" "EENT005" "00376662" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT006" "00376663" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT007" "00376664" "" "" "" "1" "" "04101" "" "" "" "" "China" "" "" "" "" "" "EENT008" "00376669" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0012" "00376671" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0014" "00376672" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0015" "00376673" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0016" "00376674" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0017" "00376675" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0019" "00376743" "" "" "" "1" "" "04101" "" "" "" "" "China" "" "" "" "" "" "EENT0018" "00376799" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0021" "00376800" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0022" "00376801" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0023" "00376802" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0024" "00376803" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0025" "00376804" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0026" "00376805" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0027" "00376806" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0028" "00376807" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0029" "00376808" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0030" "00376809" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0031" "00376827" "" "" "" "1" "" "04101" "" "" "" "" "China" "" "" "" "" "" "EENT0032" "00376829" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0033" "00376830" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0034" "00376837" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0035" "00376838" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0036" "00376840" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0037" "00376841" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0038" "00376842" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0039" "00376844" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0040" "00376845" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0041" "00376872" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0042" "00376873" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0043" "00376874" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0045" "00376875" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0044" "00376876" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0046" "00376877" "" "" "" "1" "" "04101" "" "" "" "" "China" "" "0" "" "" "" "EENT0047" "00376878" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0048" "00376879" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0049" "00376880" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0050" "00376881" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0051" "00376882" "" "" "" "1" "" "04101" "" "" "" "" "China" "" "" "" "" "" "EENT0052" "00376883" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0053" "00376884" "" "" "" "1" "" "04101" "" "" "-" "" "China" "" "" "" "" "" "EENT0054" "00376885" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0055" "00376886" "" "" "" "1" "" "04101" "" "" "" "" "China" "" "" "" "" "" "EENT0056" "00376887" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0057" "00376888" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0058" "00376889" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0059" "00376890" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0060" "00376891" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0061" "00376892" "" "" "" "1" "" "04101" "" "" "" "" "China" "" "" "" "" "" "EENT0062" "00376893" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0063" "00376894" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0064" "00376895" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0065" "00376896" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0066" "00376897" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0067" "00376898" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0068" "00376899" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0069" "00376900" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0070" "00376901" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0071" "00376902" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0072" "00376903" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0073" "00376904" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0074" "00376905" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0075" "00376906" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0076" "00376907" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0077" "00376908" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0078" "00376909" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0079" "00376910" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0080" "00376911" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0081" "00376912" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0082" "00376913" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0083" "00376914" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0084" "00376915" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0085" "00376916" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0086" "00376917" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0087" "00376918" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0012" "00376919" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0089" "00376920" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0090" "00376921" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0012" "00376922" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0092" "00376923" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0093" "00376924" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0094" "00376925" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0095" "00376926" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0096" "00376928" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0097" "00376930" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0098" "00376931" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0099" "00376933" "" "" "" "1" "" "04101" "" "" "" "" "China" "" "" "" "" "" "EENT0100" "00376934" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0101" "00376935" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0102" "00376936" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0103" "00376937" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0105" "00376938" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0104" "00376939" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0106" "00376940" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0107" "00376941" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0108" "00376942" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0109" "00376943" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0110" "00376944" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0111" "00376945" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0112" "00376946" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0113" "00376947" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0114" "00376948" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0115" "00376949" "" "" "" "1" "" "04101" "" "" "" "" "China" "" "" "" "" "" "EENT0116" "00376950" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0117" "00376951" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0012" "00376952" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0119" "00376953" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0120" "00376954" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0121" "00376955" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0122" "00376956" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0123" "00376957" "" "" "" "1" "" "04101" "" "" "M" "" "China" "" "" "" "" "" "EENT0124" "00376958" "" "" "" "1" "" "04101" "" "" "F" "" "China" "" "" "" "" "" "EENT0125" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 283 "{{individualid}}" "{{diseaseid}}" "00003031" "00198" "00004042" "00239" "00035737" "00198" "00035738" "00198" "00035740" "00198" "00035742" "00198" "00035746" "00198" "00035747" "00198" "00035751" "00198" "00035752" "00198" "00035753" "00239" "00035757" "00239" "00035758" "00198" "00035760" "00198" "00035761" "00198" "00035762" "00198" "00035763" "00198" "00035765" "00239" "00035767" "00198" "00035768" "00198" "00035769" "00198" "00035771" "00198" "00035773" "00198" "00035774" "00198" "00035777" "00198" "00035782" "00198" "00035785" "00239" "00035789" "00198" "00035790" "00239" "00035791" "00198" "00035792" "00198" "00035794" "00198" "00050496" "00198" "00053061" "00239" "00053062" "00237" "00053063" "00239" "00053064" "00239" "00053065" "00239" "00053066" "00239" "00053067" "00239" "00053068" "00198" "00081038" "00239" "00100212" "00239" "00134051" "00198" "00151813" "00198" "00152020" "00239" "00164695" "00000" "00164697" "00198" "00181211" "00198" "00207904" "00239" "00229824" "00239" "00229832" "00240" "00234330" "00198" "00239167" "00198" "00248176" "00239" "00269781" "00239" "00269782" "00239" "00274062" "00239" "00289348" "00198" "00291232" "00198" "00291233" "00198" "00291234" "00198" "00291235" "00198" "00291236" "00198" "00291237" "00198" "00291238" "00198" "00291239" "00198" "00291240" "00198" "00291241" "00198" "00291242" "00198" "00291243" "00198" "00291244" "00198" "00291245" "00198" "00291246" "00198" "00291247" "00198" "00291248" "00198" "00291249" "00198" "00291250" "00198" "00291251" "00198" "00291252" "00198" "00291253" "00198" "00291254" "00198" "00291255" "00198" "00291256" "00198" "00291257" "00198" "00291258" "00198" "00291259" "00198" "00291260" "00198" "00295152" "00198" "00295153" "00198" "00295268" "00198" "00295269" "00198" "00295270" "00198" "00295271" "00198" "00295272" "00198" "00295273" "00198" "00296004" "00239" "00296005" "00239" "00296006" "00239" "00296008" "00239" "00296009" "00239" "00296010" "00239" "00296011" "00239" "00296012" "00239" "00296013" "00239" "00296014" "00239" "00296015" "00239" "00296016" "00239" "00296137" "00239" "00296249" "00239" "00296250" "00239" "00296251" "00239" "00296252" "00239" "00296253" "00239" "00296254" "00239" "00296255" "00239" "00296256" "00239" "00296257" "00239" "00296676" "00198" "00296726" "00198" "00303307" "00239" "00303308" "00239" "00303309" "00239" "00303310" "00239" "00303311" "00239" "00303312" "00239" "00303313" "00239" "00303314" "00239" "00303315" "00239" "00303316" "00239" "00303317" "00239" "00303318" "00239" "00303319" "00239" "00303320" "00239" "00303321" "00239" "00303322" "00239" "00303323" "00239" "00303324" "00239" "00303325" "00239" "00304468" "00198" "00304469" "00198" "00304470" "00198" "00306166" "00239" "00306167" "00239" "00306168" "00239" "00307945" "00139" "00324286" "00239" "00324287" "00239" "00325390" "00198" "00326211" "00198" "00328390" "04214" "00331433" "05517" "00331434" "05517" "00331435" "05517" "00331436" "05517" "00331437" "05517" "00359497" "05517" "00359594" "00239" "00363345" "04214" "00363362" "04214" "00363384" "04214" "00372403" "00239" "00372767" "05911" "00376463" "00237" "00376464" "00239" "00376659" "00239" "00376660" "00239" "00376661" "00239" "00376662" "00239" "00376663" "00239" "00376664" "00239" "00376669" "00239" "00376671" "00239" "00376672" "00239" "00376673" "00239" "00376674" "00239" "00376675" "00239" "00376743" "00237" "00376799" "00239" "00376800" "00239" "00376801" "00239" "00376802" "00239" "00376803" "00239" "00376804" "00239" "00376805" "00239" "00376806" "00239" "00376807" "00239" "00376808" "00239" "00376809" "00239" "00376827" "00239" "00376829" "00239" "00376830" "00239" "00376837" "00239" "00376838" "00239" "00376840" "00239" "00376841" "00239" "00376842" "00239" "00376844" "00239" "00376845" "00239" "00376872" "00237" "00376873" "00239" "00376874" "00239" "00376875" "00239" "00376876" "00239" "00376877" "00239" "00376878" "00239" "00376879" "00239" "00376880" "00239" "00376881" "00239" "00376882" "00239" "00376883" "00239" "00376884" "00239" "00376885" "00237" "00376886" "00239" "00376887" "00237" "00376888" "00239" "00376889" "00239" "00376890" "00239" "00376891" "00239" "00376892" "00237" "00376893" "00239" "00376894" "00239" "00376895" "00239" "00376896" "00239" "00376897" "00237" "00376898" "00237" "00376899" "00239" "00376900" "00239" "00376901" "00237" "00376902" "00239" "00376903" "00237" "00376904" "00239" "00376905" "00239" "00376906" "00239" "00376907" "00239" "00376908" "00239" "00376909" "00239" "00376910" "00237" "00376911" "00239" "00376912" "00239" "00376913" "00239" "00376914" "00239" "00376915" "00239" "00376916" "00239" "00376917" "00239" "00376918" "00239" "00376919" "00239" "00376920" "00239" "00376921" "00239" "00376922" "00239" "00376923" "00239" "00376924" "00237" "00376925" "00239" "00376926" "00239" "00376928" "00237" "00376930" "00239" "00376931" "00239" "00376933" "00239" "00376934" "00239" "00376935" "00239" "00376936" "00239" "00376937" "00239" "00376938" "00239" "00376939" "00239" "00376940" "00239" "00376941" "00239" "00376942" "00237" "00376943" "00239" "00376944" "00237" "00376945" "00239" "00376946" "00239" "00376947" "00239" "00376948" "00239" "00376949" "00239" "00376950" "00239" "00376951" "00237" "00376952" "00239" "00376953" "00239" "00376954" "00239" "00376955" "00239" "00376956" "00237" "00376957" "00239" "00376958" "00237" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00127, 00139, 00198, 00236, 00237, 00238, 00239, 00240, 00241, 04214, 05517, 05911 ## Count = 225 "{{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}}" "0000001881" "00198" "00003031" "00141" "Unknown" "21y" "" "" "" "" "" "" "" "" "" "" "" "" "0000037108" "00198" "00050496" "00006" "Unknown" "" "tracheomalacia, tracheoesophageal fistula, preauricular pit, duplication of phalanx of thumb, thoracic scoliosis" "" "" "" "" "" "" "" "" "" "" "" "0000039786" "00239" "00053061" "01450" "Unknown" "" "Marfan syndrome, ectopia lentis, retinal detachment, mitral valve prolapse, severe pectus excavatum; wrist and thumb sign, plain flat foot, reduced upper segment/lower segment and increased armspan/height" "0d" "" "" "" "" "" "" "" "" "" "" "0000039787" "00237" "00053062" "00154" "Isolated (sporadic)" "5y" "bilateral ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000039788" "00239" "00053063" "00154" "Unknown" "41y" "Marfan syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000039789" "00239" "00053064" "00154" "Unknown" "41y" "Marfan sydnrome,aortic dissection, dural ectasia" "37y" "" "" "" "" "" "" "" "" "" "" "0000039790" "00239" "00053065" "00154" "Familial, autosomal dominant" "37y" "Marfan syndrome,tall stature, aortic dissection, long narrow feet" "32y" "" "" "" "" "" "" "" "" "" "" "0000039791" "00239" "00053066" "00154" "Unknown" "9y" "Marfan syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000039792" "00239" "00053067" "01449" "Familial, autosomal dominant" "" "Marfan syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000039793" "00198" "00053068" "00006" "Isolated (sporadic)" "15y" "non-SGS marfanoid-craniosynostosis; craniosynostosis, arachnodactyly, pectus deformity, scoliosis, no joint contractures, no camptodactyly, foot malposition, scaphocephaly or dolichocephaly, no hypertelorism, no proptosis, no downslanting palpebral fissures, no micrognathiaretrognathia, no intellectual disability, hernias, no loss of subcutaneous fat, valvular anomalies, aortic root dilatation requiring surgery in childhood, no myopia" "" "" "" "" "" "" "" "" "" "" "" "0000046762" "00239" "00004042" "00141" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060607" "00239" "00081038" "01758" "Isolated (sporadic)" "" "Marfan syndrome (OMIM:154700)" "" "" "" "" "" "" "" "" "" "" "" "0000078453" "00239" "00100212" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000106809" "00198" "00134051" "01807" "Unknown" "" "HP:0003549 (Abnormality of connective tissue)" "" "" "" "" "" "" "" "" "" "" "" "0000124182" "00198" "00151813" "01807" "Unknown" "" "Delayed speech and language development (HP:0000750); Generalized joint laxity (HP:0002761)" "" "" "" "" "" "" "" "" "" "" "" "0000129736" "00343" "00164697" "02497" "Familial, autosomal recessive" "" "HP:0000098, HP:0001166, HP:0001724, HP:0001382" "" "" "" "" "" "" "" "" "" "" "" "0000143380" "00198" "00181211" "01807" "Unknown" "" "Aortic root aneurysm (HP:0002616); Ascending aortic dissection (HP:0004933)" "" "" "" "" "" "" "" "" "" "" "" "0000155735" "00198" "00207966" "01164" "Unknown" "" "HP:0001634 (Mitral valve prolapse); HP:0001166 (Arachnodactyly); HP:0000276 (Long face)" "" "" "" "" "" "" "" "" "" "" "" "0000156239" "00198" "00035737" "01164" "Unknown" "" "suspected Marfan syndrome" "" "" "" "" "" "" "" "" "" "Marfan syndrome?" "" "0000156240" "00198" "00035738" "01164" "Unknown" "" "suspected Marfan syndrome" "" "" "" "" "" "" "" "" "" "Marfan syndrome?" "" "0000156241" "00198" "00035740" "01164" "Unknown" "" "non-ischemic CMP und AI Grade 2- 3, both daughters have lens luxation" "" "" "" "" "" "" "" "" "" "lens luxation" "" "0000156242" "00198" "00035742" "01164" "Unknown" "" "suspected Marfan syndrome" "" "" "" "" "" "" "" "" "" "Marfan syndrome?" "" "0000156243" "00198" "00035746" "01164" "Unknown" "" "lens luxation bilateral., somatomegaly" "" "" "" "" "" "" "" "" "" "lens luxation" "" "0000156244" "00198" "00035747" "01164" "Unknown" "" "lens luxation bilateral., somatomegaly" "" "" "" "" "" "" "" "" "" "lens luxation" "" "0000156245" "00198" "00035751" "01164" "Unknown" "" "suspected Marfan syndrome" "" "" "" "" "" "" "" "" "" "Marfan syndrome?" "" "0000156246" "00198" "00035752" "01164" "Unknown" "" "lens luxation bilateral" "" "" "" "" "" "" "" "" "" "lens luxation" "" "0000156247" "00239" "00035753" "01164" "Unknown" "" "Marfan syndrome" "" "" "" "" "" "" "" "" "" "Marfan syndrome" "" "0000156248" "00239" "00035757" "01164" "Unknown" "" "Marfan syndrome" "" "" "" "" "" "" "" "" "" "Marfan syndrome" "" "0000156249" "00198" "00035758" "01164" "Unknown" "" "suspected Marfan syndrome" "" "" "" "" "" "" "" "" "" "Marfan syndrome?" "" "0000156250" "00198" "00035760" "01164" "Unknown" "" "lens luxation bilateral., somatomegaly" "" "" "" "" "" "" "" "" "" "lens luxation" "" "0000156251" "00198" "00035761" "01164" "Unknown" "" "lens luxation, family history normal" "" "" "" "" "" "" "" "" "" "lens luxation" "" "0000156252" "00198" "00035762" "01164" "Unknown" "" "lens luxation bilateral" "" "" "" "" "" "" "" "" "" "lens luxation" "" "0000156253" "00198" "00035763" "01164" "Unknown" "" "lens luxation, family history normal" "" "" "" "" "" "" "" "" "" "lens luxation" "" "0000156254" "00239" "00035765" "01164" "Familial" "" "Marfan syndrome, familial" "" "" "" "" "" "" "" "" "" "Marfan syndrome, familial" "" "0000156255" "00198" "00035767" "01164" "Unknown" "" "lens luxation, family history normal" "" "" "" "" "" "" "" "" "" "lens luxation" "" "0000156256" "00198" "00035768" "01164" "Unknown" "" "suspected Marfan syndrome" "" "" "" "" "" "" "" "" "" "Marfan syndrome?" "" "0000156257" "00198" "00035769" "01164" "Unknown" "" "lens luxation, family history normal" "" "" "" "" "" "" "" "" "" "lens luxation" "" "0000156258" "00198" "00035771" "01164" "Unknown" "" "lens luxation, family history normal" "" "" "" "" "" "" "" "" "" "lens luxation" "" "0000156259" "00198" "00035773" "01164" "Unknown" "" "lens luxation, family history normal" "" "" "" "" "" "" "" "" "" "lens luxation" "" "0000156260" "00198" "00035774" "01164" "Unknown" "" "lens luxation, family history normal" "" "" "" "" "" "" "" "" "" "lens luxation" "" "0000156261" "00198" "00035777" "01164" "Unknown" "" "lens luxation, family history normal" "" "" "" "" "" "" "" "" "" "lens luxation" "" "0000156262" "00198" "00035782" "01164" "Unknown" "" "Weill-Marchesani syndrome" "" "" "" "" "" "" "" "" "" "Weill-Marchesani syndrome" "" "0000156263" "00239" "00035785" "01164" "Unknown" "" "Marfan syndrome" "" "" "" "" "" "" "" "" "" "Marfan syndrome" "" "0000156264" "00198" "00035789" "01164" "Unknown" "" "suspected Marfan syndrome" "" "" "" "" "" "" "" "" "" "Marfan syndrome?" "" "0000156265" "00239" "00035790" "01164" "Familial" "" "Marfan syndrome, familial" "" "" "" "" "" "" "" "" "" "Marfan syndrome, familial" "" "0000156266" "00198" "00035791" "01164" "Unknown" "" "suspected Marfan syndrome" "" "" "" "" "" "" "" "" "" "Marfan syndrome?" "" "0000156267" "00198" "00035792" "01164" "Unknown" "" "suspected Marfan syndrome" "" "" "" "" "" "" "" "" "" "Marfan syndrome?" "" "0000156268" "00198" "00035794" "01164" "Unknown" "" "Myopia, ectopia lentis downward and glaukome in patient, his father, and myopia in his younger brother" "" "" "" "" "" "" "" "" "" "myopia" "" "0000173006" "00239" "00229824" "02515" "Familial, autosomal dominant" "27y" "Dilatation of the aortic root and ascending aorta, minimal insufficiency of the aortic valve, prolapse of the anterior mitral leaflet, mild insufficiency of the tricuspid valve, progressive scoliosis, spontaneous pneumothorax, mild myopia (-2 diopters on the right and -1.5 diopters on the left), bilateral positive wrist sign, bilateral negative thumb sign, apparent enophthalmos, downslanting palpebral fissures, malar hypoplasia, high-arched palate, severe scoliosis, pectus carinatum, bilateral valgus deformity of the elbow, bilateral metatarsus varus, some mildly atrophic post-surgical scars of the thorax, and striae rubrae of the back." "" "" "" "p.(?)" "" "" "" "" "Marfan syndrome (MFS; OMIM 154700)" "Marfan syndrome (MFS; OMIM 154700)" "" "0000173007" "00240" "00229832" "02515" "Unknown" "" "Chronic back pain, diffuse spondylosis and marked dural ectasias of the lumbar spine. Moderately severe scoliosis since her teens, severe myopia (-6 diopters on the right and -8 dipters on the left) and chronic fatigue. Physical examination showed height 181 cm, weight 80 cm, arm span 188 cm, arm span/height ratio 1.038 (normal), bilaterally positive wrist and thumb signs, hypermobility of fingers but Beighton score 0/9, elbow limitation on both sides, enophthalmos, downslanting palpebral fissures, retrognathia, high-arched palate, striae distensae of the shoulders. Presence of 10 points of systemic features and an aortic root diameter < 2 SD." "" "" "" "" "" "" "" "" "MASS" "MASS" "" "0000174750" "00198" "00234330" "01807" "Unknown" "" "HP:0005294 (Arterial dissection)" "" "" "" "" "" "" "" "" "" "" "" "0000179389" "00198" "00239167" "01807" "Unknown" "" "HP:0000218 (High palate)" "" "" "" "" "" "" "" "" "" "" "" "0000187185" "00239" "00248176" "03367" "Familial, autosomal dominant" "" "Myopia, Dental crowding, Pectus excavatum, \r\nJoint hypermobility, Arachnodactyly, Tall stature" "" "" "" "" "" "" "" "" "" "" "" "0000209036" "00239" "00274062" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000222967" "00198" "00289348" "01164" "Unknown" "" "Muscular hypotonia (HP:0001252); Toe syndactyly (HP:0001770); Disproportionate tall stature (HP:0001519); Scoliosis (HP:0002650); Myopathy (HP:0003198)" "" "" "" "" "" "" "" "" "" "" "" "0000223471" "00239" "00296004" "03644" "Familial, autosomal dominant" "49y" "" "" "" "" "" "" "" "" "" "MFS" "MFS" "" "0000223472" "00239" "00296005" "03644" "Familial, autosomal dominant" "54y" "" "" "20y" "" "" "" "" "" "" "MFS" "MFS" "" "0000223473" "00239" "00296006" "03644" "Familial, autosomal dominant" "42y" "" "" "15y" "" "" "" "" "" "" "MFS" "MFS" "" "0000223475" "00239" "00296008" "03644" "Familial, autosomal dominant" "34y" "" "" "12y" "" "" "" "" "" "" "MFS" "MFS" "" "0000223476" "00239" "00296009" "03644" "Familial, autosomal dominant" "42y" "" "" "20y" "" "" "" "" "" "" "MFS" "MFS" "" "0000223477" "00239" "00296010" "03644" "Familial, autosomal dominant" "36y" "" "" "10y" "" "" "" "" "" "" "MFS" "MFS" "" "0000223478" "00239" "00296011" "03644" "Familial, autosomal dominant" "22y" "" "" "22y" "" "" "" "" "" "" "MFS" "MFS" "" "0000223479" "00239" "00296012" "03644" "Familial, autosomal dominant" "26y" "" "" "08y" "" "" "" "" "" "" "MFS" "MFS" "" "0000223480" "00239" "00296013" "03644" "Familial, autosomal dominant" "17y" "" "" "17y" "" "" "" "" "" "" "MFS" "MFS" "" "0000223481" "00239" "00296014" "03644" "Familial, autosomal dominant" "23y" "" "" "15y" "" "" "" "" "" "" "MFS" "MFS" "" "0000223482" "00239" "00296015" "03644" "Familial, autosomal dominant" "43y" "" "" "18y" "" "" "" "" "" "" "MFS" "MFS" "" "0000223483" "00239" "00296016" "03644" "Familial, autosomal dominant" "14y" "" "" "14y" "" "" "" "" "" "" "MFS" "MFS" "" "0000223604" "00239" "00296137" "03644" "Familial, autosomal dominant" "20y" "" "" "19y" "" "" "" "" "" "" "MFS" "MFS" "" "0000223716" "00239" "00296249" "03644" "Familial, autosomal dominant" "08y" "" "" "08y" "" "" "" "" "" "" "MFS" "MFS" "" "0000223717" "00239" "00296250" "03644" "Familial, autosomal dominant" "48y" "" "" "19y" "" "" "" "" "" "" "MFS" "MFS" "" "0000223718" "00239" "00296251" "03644" "Familial, autosomal dominant" "50y" "" "" "23y" "" "" "" "" "" "" "MFS" "MFS" "" "0000223719" "00239" "00296252" "03644" "Familial, autosomal dominant" "05y" "" "" "05y" "" "" "" "" "" "" "MFS" "MFS" "" "0000223720" "00239" "00296253" "03644" "Familial, autosomal dominant" "44y" "" "" "15y" "" "" "" "" "" "" "MFS" "MFS" "" "0000223721" "00239" "00296254" "03644" "Familial, autosomal dominant" "56y" "" "" "25y" "" "" "" "" "" "" "MFS" "MFS" "" "0000223722" "00239" "00296255" "03644" "Familial, autosomal dominant" "48y" "" "" "28y" "" "" "" "" "" "" "MFS" "MFS" "" "0000223723" "00239" "00296256" "03644" "Familial, autosomal dominant" "40y" "" "" "12y" "" "" "" "" "" "" "MFS" "MFS" "" "0000223724" "00239" "00296257" "03644" "Familial, autosomal dominant" "28y" "" "" "20y" "" "" "" "" "" "" "MFS" "MFS" "" "0000224077" "00198" "00296676" "01164" "Unknown" "" "Lack of skin elasticity (HP:0100679); Muscle weakness (HP:0001324); Severe Myopia (HP:0011003)" "" "" "" "" "" "" "" "" "" "" "" "0000224126" "00198" "00296726" "00006" "Unknown" "43y" "thoracic aneurysm, aortic dissection" "" "" "" "" "" "" "" "" "" "aortic aneurysm" "" "0000230384" "00239" "00303307" "02958" "Familial, autosomal dominant" "10y" "Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000230385" "00239" "00303308" "02958" "Familial, autosomal dominant" "30y" "Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000230386" "00239" "00303309" "02958" "Familial, autosomal dominant" "6y" "Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000230387" "00239" "00303310" "02958" "Familial, autosomal dominant" "4y" "Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000230388" "00239" "00303311" "02958" "Familial, autosomal dominant" "14y" "Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000230389" "00239" "00303312" "02958" "Familial, autosomal dominant" "15y" "Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000230390" "00239" "00303313" "02958" "Familial, autosomal dominant" "6y" "Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000230391" "00239" "00303314" "02958" "Familial, autosomal dominant" "1y" "Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000230392" "00239" "00303315" "02958" "Familial, autosomal dominant" "10y" "Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000230393" "00239" "00303316" "02958" "Familial, autosomal dominant" "13y" "Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000230394" "00239" "00303317" "02958" "Familial, autosomal dominant" "14y" "Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000230395" "00239" "00303318" "02958" "Familial, autosomal dominant" "13y" "Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000230396" "00239" "00303319" "02958" "Familial, autosomal dominant" "3y6m" "Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000230397" "00239" "00303320" "02958" "Familial, autosomal dominant" "5y" "Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000230398" "00239" "00303321" "02958" "Familial, autosomal dominant" "8y" "Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000230399" "00239" "00303322" "02958" "Familial, autosomal dominant" "3y" "Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000230400" "00239" "00303323" "02958" "Familial, autosomal dominant" "8y" "Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000230401" "00239" "00303324" "02958" "Familial, autosomal dominant" "17y" "Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000230402" "00239" "00303325" "02958" "Familial, autosomal dominant" "16y" "Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000232009" "00239" "00306166" "03731" "-" "" "Thoracic Aortic Aneurysm and systemic score of 8" "" "28y" "" "" "" "" "" "" "Marfan" "Marfan" "" "0000232011" "00239" "00306167" "03731" "Complex" "" "neonatal MFS" "" "" "" "" "" "" "" "" "" "" "" "0000232012" "00239" "00306168" "03731" "Familial" "" "" "" "" "" "" "" "" "" "" "Marfan" "Marfan" "" "0000233368" "00139" "00307945" "00006" "Isolated (sporadic)" "6y5m" "see paper; ..., Ectopia lentis, Myopia, High, narrow palate, Arachnodactyly, Abnormality of the mitral valve, Mitral regurgitation, Tall stature, weight" "" "" "" "" "" "" "" "" "" "intellectual diability" "" "0000242855" "00239" "00324286" "02958" "Familial, autosomal dominant" "4m" "disproportionate tall stature (HP:0001519), aortic root dilatation (HP:0002616), ectopia lentis (HP:0001083), myopia (HP:0000545), mitral valve prolapse (HP: 0001634)" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000242856" "00239" "00324287" "02958" "Familial, autosomal dominant" "4y6m" "disproportionate tall stature (HP:0001519), aortic root dilatation (HP:0002616), ectopia lentis (HP:0001083), myopia (HP:0000545), mitral valve prolapse (HP: 0001634)" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000243877" "00198" "00325390" "00006" "Unknown" "" "no seizures" "" "16y" "" "" "" "" "" "" "" "Marfan syndrome" "" "0000244672" "00198" "00326211" "01807" "Unknown" "" "Abnormality of finger (HP:0001167); Abnormality of toe (HP:0001780); Aortic root aneurysm (HP:0002616); Thoracic aortic aneurysm (HP:0012727)" "" "" "" "" "" "" "" "" "" "" "" "0000246616" "04214" "00328390" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000249625" "05517" "00331433" "00000" "Familial, autosomal dominant" "" "Tall stature, Aortic dilatation, Dolichocephaly, Deeply set eye, Downslanted palpebral fissuYes" "" "" "" "" "" "" "" "" "Overgrowth (tall stature) syndromes with skeletal involvement)" "skeletal dysplasia" "" "0000249626" "05517" "00331434" "00000" "Familial, autosomal dominant" "" "Ectopia lentis" "" "" "" "" "" "" "" "" "Acromelic dysplasias" "skeletal dysplasia" "" "0000249627" "05517" "00331435" "00000" "Familial, autosomal dominant" "" "Non-Arab ( Short stature, Acromesomelia" "" "" "" "" "" "" "" "" "Acromelic dysplasias" "skeletal dysplasia" "" "0000249628" "05517" "00331436" "00000" "Familial, autosomal dominant" "" "Short stature, Abnormality of the heart valves, Anteverted nares, Round face, Upslanted pYes" "" "" "" "" "" "" "" "" "Acromelic dysplasias" "skeletal dysplasia" "" "0000249629" "05517" "00331437" "00000" "Familial, autosomal dominant" "" "Tall stature, Ectopia lentis, Myopia, Hemangioma, High, narrow palate, Arachnodactyly Yes" "" "" "" "" "" "" "" "" "Overgrowth (tall stature) syndromes with skeletal involvement)" "skeletal dysplasia" "" "0000254745" "05517" "00359497" "01396" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Albright hereditary osteodystrophy" "" "0000258710" "04214" "00363345" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258727" "04214" "00363362" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258749" "04214" "00363384" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000267718" "00239" "00372403" "04070" "Familial, autosomal dominant" "" "Wrist and thumb sign\r\nPectus Excavatum\r\nPlain Flat Foot\r\nFacial features\r\nMyopia\r\nRetinal detachment\r\nOvergrowth of the long bones\r\nAortic dissection" "" "" "" "" "" "" "" "" "" "" "" "0000268044" "05911" "00372767" "04070" "Familial, autosomal dominant" "30y" "HP:0002647, HP:0001065, HP:0001765, HP:0000098; 30y-deceased, acute aortic rupture (ECG pericardial effusion); hospitalized owing to sudden persistent abdominal pain, aggravated when lying down, relieved when sitting" "30y" "30y" "HP:0002647" "" "" "" "" "" "Marfan" "Marfan" "" "0000271669" "00237" "00376463" "04101" "Familial, autosomal dominant" "30y" "" "" "" "" "" "" "" "" "" "ectopia lentis syndrome" "suspected Marfan syndrome" "" "0000271671" "00239" "00376464" "04101" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000271866" "00239" "00376659" "04101" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Marfan syndrome" "suspected Marfan syndrome" "" "0000271867" "00239" "00376660" "04101" "Unknown" "" "" "" "" "" "" "" "" "" "" "Marfan syndrome" "suspected Marfan syndrome" "" "0000271868" "00239" "00376661" "04101" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000271869" "00239" "00376662" "04101" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ectopia lentis syndrome" "suspected Marfan syndrome" "" "0000271870" "00239" "00376663" "04101" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ectopia lentis syndrome" "suspected Marfan syndrome" "" "0000271871" "00239" "00376664" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "Marfan syndrome" "suspected Marfan syndrome" "" "0000271879" "00239" "00376669" "04101" "Isolated (sporadic)" "" "ectopia lentis\r\nmicrospherophakia" "" "" "" "" "" "" "" "" "" "" "" "0000271881" "00239" "00376671" "04101" "Familial, autosomal dominant" "" "ectopia lentis\r\nmicroshpheriphakia" "" "" "" "" "" "" "" "" "" "" "" "0000271882" "00239" "00376672" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000271883" "00239" "00376673" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "potential Marfan syndrome" "suspected Marfan syndrome" "" "0000271885" "00239" "00376675" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "Marfan syndrome" "suspected Marfan syndrome" "" "0000271886" "00239" "00376674" "04101" "Unknown" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000271954" "00237" "00376743" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272010" "00239" "00376799" "04101" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Marfan syndrome" "suspected Marfan syndrome" "" "0000272011" "00239" "00376800" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272012" "00239" "00376801" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "Marfan syndrome" "suspected Marfan syndrome" "" "0000272013" "00239" "00376802" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "Marfan syndrome" "suspected Marfan syndrome" "" "0000272014" "00239" "00376803" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272015" "00239" "00376804" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "Marfan syndrome" "suspected Marfan syndrome" "" "0000272016" "00239" "00376805" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272017" "00239" "00376806" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "Marfan syndrome" "suspected Marfan syndrome" "" "0000272018" "00239" "00376807" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272019" "00239" "00376808" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272038" "00239" "00376827" "04101" "Unknown" "" "ectopia lentis" "" "" "" "" "" "" "" "" "Marfan syndrome" "suspected Marfan syndrome" "" "0000272040" "00239" "00376829" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272041" "00239" "00376830" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272047" "00239" "00376837" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272048" "00239" "00376838" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272050" "00239" "00376840" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272051" "00239" "00376841" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272052" "00239" "00376842" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272053" "00239" "00376844" "04101" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000272054" "00239" "00376845" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272083" "00237" "00376872" "04101" "Familial, autosomal dominant" "" "ectopia lentis\r\nmicrospherophakia" "" "" "" "" "" "" "" "" "ectopia lentis syndrome" "suspected Marfan syndrome" "" "0000272084" "00239" "00376873" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "Marfan syndrome" "suspected Marfan syndrome" "" "0000272085" "00239" "00376875" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272086" "00239" "00376874" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272087" "00239" "00376876" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "ectopia lentis syndrome" "suspected Marfan syndrome" "" "0000272088" "00239" "00376878" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272089" "00239" "00376880" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272090" "00239" "00376881" "04101" "Di-genic" "" "ectopia lentis" "" "" "" "" "" "" "" "" "potential Marfan syndrome" "suspected Marfan syndrome" "" "0000272091" "00239" "00376882" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272092" "00239" "00376884" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "Marfan syndrome" "suspected Marfan syndrome" "" "0000272093" "00239" "00376885" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272094" "00239" "00376886" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272095" "00239" "00376887" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272096" "00239" "00376888" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272097" "00239" "00376889" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272098" "00239" "00376890" "04101" "Isolated (sporadic)" "" "ectopia lentis \r\nmicrospherophakia" "" "" "" "" "" "" "" "" "" "" "" "0000272099" "00237" "00376892" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272100" "00239" "00376893" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272101" "00239" "00376894" "04101" "Isolated (sporadic)" "" "ectopia lentis\r\nretinal detachment" "" "" "" "" "" "" "" "" "" "" "" "0000272102" "00239" "00376895" "04101" "Isolated (sporadic)" "" "ectopia lentis\r\nhigh myopia" "" "" "" "" "" "" "" "" "" "" "" "0000272103" "00239" "00376896" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272104" "00239" "00376897" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272105" "00239" "00376899" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272106" "00239" "00376900" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272107" "00239" "00376901" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272108" "00239" "00376902" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272109" "00239" "00376903" "04101" "Isolated (sporadic)" "" "ectopia lentis\r\nmicrospherophakia" "" "" "" "" "" "" "" "" "" "" "" "0000272110" "00239" "00376904" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272111" "00239" "00376906" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272112" "00239" "00376907" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272113" "00239" "00376908" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272114" "00239" "00376909" "04101" "Isolated (sporadic)" "" "ectopia lentis \r\nmicrospherophakia" "" "" "" "" "" "" "" "" "" "" "" "0000272115" "00237" "00376910" "04101" "Familial, autosomal dominant" "" "ectopia lentis\r\nmicrospherophakia\r\nglaucoma" "" "" "" "" "" "" "" "" "" "" "" "0000272116" "00239" "00376911" "04101" "Isolated (sporadic)" "" "ectopia lentis\r\nstrabismus" "" "" "" "" "" "" "" "" "Marfan syndrome" "suspected Marfan syndrome" "" "0000272117" "00239" "00376913" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272118" "00239" "00376916" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272119" "00239" "00376917" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272120" "00239" "00376918" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272121" "00239" "00376919" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272122" "00239" "00376921" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272123" "00239" "00376923" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272124" "00239" "00376922" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272125" "00237" "00376924" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272126" "00239" "00376925" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272127" "00239" "00376926" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272129" "00237" "00376928" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272130" "00239" "00376930" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272132" "00239" "00376931" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272134" "00239" "00376933" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272135" "00239" "00376933" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272136" "00239" "00376934" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272137" "00239" "00376935" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272138" "00239" "00376937" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272139" "00239" "00376938" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272140" "00239" "00376939" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272141" "00239" "00376940" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272142" "00239" "00376941" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272143" "00237" "00376942" "04101" "Familial, autosomal dominant" "" "ectopia lentis\r\nglaucoma" "" "" "" "" "" "" "" "" "" "" "" "0000272144" "00237" "00376944" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272145" "00239" "00376945" "04101" "Isolated (sporadic)" "" "ectopia lentis \r\nneonatal MFS" "" "" "" "" "" "" "" "" "" "" "" "0000272146" "00239" "00376946" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272147" "00239" "00376947" "04101" "Isolated (sporadic)" "" "ectopia lentis\r\naortic root dilation" "" "" "" "" "" "" "" "" "" "" "" "0000272148" "00239" "00376948" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272149" "00239" "00376949" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272150" "00239" "00376950" "04101" "Isolated (sporadic)" "" "ectopia lentis \r\naortic root dilation" "" "" "" "" "" "" "" "" "" "" "" "0000272151" "00237" "00376951" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272152" "00239" "00376952" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272153" "00239" "00376953" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272154" "00239" "00376954" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272155" "00237" "00376956" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272156" "00239" "00376957" "04101" "Isolated (sporadic)" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000272157" "00237" "00376958" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 322 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000002942" "00003035" "1" "00141" "00141" "2013-10-06 18:13:11" "00006" "2013-10-09 21:17:38" "PCR;SEQ" "DNA" "" "" "0000002943" "00003031" "1" "00141" "00141" "2013-10-06 19:25:08" "00006" "2013-10-09 21:19:32" "PCR;SEQ" "DNA" "" "" "0000003963" "00004042" "1" "00141" "00141" "2013-11-18 07:02:11" "" "" "PCR;SEQ" "DNA" "" "" "0000035804" "00035734" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035805" "00035735" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035806" "00035736" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035807" "00035737" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035808" "00035738" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035809" "00035739" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035810" "00035740" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035811" "00035741" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035812" "00035742" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035813" "00035743" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035814" "00035744" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035815" "00035745" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035816" "00035746" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035817" "00035747" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035818" "00035748" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035819" "00035749" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035820" "00035750" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035821" "00035751" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035822" "00035752" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035823" "00035753" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035824" "00035754" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035825" "00035755" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035826" "00035756" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035827" "00035757" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035828" "00035758" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035829" "00035759" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035830" "00035760" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035831" "00035761" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035832" "00035762" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035833" "00035763" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035834" "00035764" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035835" "00035765" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035836" "00035766" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035837" "00035767" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035838" "00035768" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035839" "00035769" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035840" "00035770" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035841" "00035771" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035842" "00035772" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035843" "00035773" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035844" "00035774" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035845" "00035775" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035846" "00035776" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035847" "00035777" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035848" "00035778" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035849" "00035779" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035850" "00035780" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035851" "00035781" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035852" "00035782" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035853" "00035783" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035854" "00035784" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035855" "00035785" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035856" "00035786" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035857" "00035787" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035858" "00035788" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035859" "00035789" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035860" "00035790" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035861" "00035791" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035862" "00035792" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035863" "00035793" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035864" "00035794" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035865" "00035795" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035866" "00035796" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035867" "00035797" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035868" "00035798" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035869" "00035799" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035870" "00035800" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000050441" "00050496" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000053009" "00053061" "1" "00006" "00006" "2015-10-30 13:09:06" "" "" "SEQ" "DNA" "" "" "0000053010" "00053063" "1" "00006" "00006" "2015-10-30 13:09:06" "" "" "SEQ" "DNA" "" "" "0000053011" "00053064" "1" "00006" "00006" "2015-10-30 13:09:06" "" "" "SEQ" "DNA" "" "" "0000053012" "00053065" "1" "00006" "00006" "2015-10-30 13:09:06" "" "" "SEQ" "DNA" "" "" "0000053013" "00053066" "1" "00006" "00006" "2015-10-30 13:09:06" "" "" "SEQ" "DNA" "" "" "0000053016" "00053068" "1" "00006" "00006" "2015-10-30 13:19:13" "00006" "2015-10-30 13:27:20" "SEQ" "DNA" "" "" "0000081150" "00081038" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000100616" "00100212" "1" "01741" "01741" "2017-02-03 14:38:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000134891" "00134051" "0" "01807" "01807" "2017-11-23 20:06:06" "" "" "SEQ" "DNA" "" "" "0000152670" "00151813" "0" "01807" "01807" "2018-01-24 21:42:32" "" "" "SEQ" "DNA" "" "" "0000152874" "00152020" "1" "01741" "01741" "2018-02-01 14:21:12" "" "" "SEQ" "DNA" "" "" "0000165561" "00164695" "1" "02497" "02497" "2018-06-05 10:51:54" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000165572" "00164697" "1" "02497" "02497" "2018-06-05 12:45:12" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000181884" "00053062" "1" "00154" "00006" "2012-02-15 12:39:56" "00006" "2014-07-18 17:26:53" "SEQ" "DNA" "" "" "0000181886" "00053067" "1" "01449" "00006" "2015-10-30 13:09:06" "" "" "SEQ" "DNA" "" "" "0000182169" "00181211" "1" "01807" "01807" "2018-10-04 18:53:30" "" "" "SEQ" "DNA" "" "" "0000208949" "00207904" "1" "01741" "01741" "2018-12-03 10:47:57" "" "" "SEQ-NG" "DNA" "" "" "0000209011" "00207966" "1" "01164" "01164" "2018-12-05 09:44:53" "" "" "SEQ-NG" "DNA" "" "" "0000230921" "00229824" "1" "02515" "02515" "2019-04-11 11:19:29" "" "" "SEQ" "DNA;RNA" "" "" "0000230926" "00229832" "1" "02515" "02515" "2019-04-11 11:31:58" "" "" "SEQ-NG-I" "DNA;RNA" "" "" "0000235432" "00234330" "1" "01807" "01807" "2019-05-08 10:13:09" "" "" "SEQ" "DNA" "" "" "0000240271" "00239167" "1" "01807" "01807" "2019-06-03 15:30:39" "" "" "SEQ" "DNA" "" "" "0000249281" "00248176" "1" "03367" "03367" "2019-07-19 15:48:58" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000270936" "00269781" "1" "01741" "01741" "2019-12-06 12:33:08" "" "" "SEQ-NG" "DNA" "" "" "0000270937" "00269782" "1" "01741" "01741" "2019-12-06 12:36:07" "" "" "SEQ-NG" "DNA" "" "" "0000275219" "00274062" "1" "00006" "00006" "2019-12-23 20:45:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000290518" "00289348" "1" "01164" "01164" "2020-03-05 10:31:52" "" "" "SEQ-NG-S" "DNA" "" "" "0000292400" "00291232" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292401" "00291233" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292402" "00291234" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292403" "00291235" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292404" "00291236" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292405" "00291237" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292406" "00291238" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292407" "00291239" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292408" "00291240" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292409" "00291241" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292410" "00291242" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292411" "00291243" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292412" "00291244" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292413" "00291245" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292414" "00291246" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292415" "00291247" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292416" "00291248" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292417" "00291249" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292418" "00291250" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292419" "00291251" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292420" "00291252" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292421" "00291253" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292422" "00291254" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292423" "00291255" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292424" "00291256" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292425" "00291257" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292426" "00291258" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292427" "00291259" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292428" "00291260" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296320" "00295152" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296321" "00295153" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296436" "00295268" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296437" "00295269" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296438" "00295270" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296439" "00295271" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296440" "00295272" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296441" "00295273" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297175" "00296004" "1" "03644" "03644" "2020-04-01 23:53:09" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297176" "00296005" "1" "03644" "03644" "2020-04-02 00:03:28" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297177" "00296006" "1" "03644" "03644" "2020-04-02 00:09:43" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297179" "00296008" "1" "03644" "03644" "2020-04-02 12:16:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000297181" "00296009" "1" "03644" "03644" "2020-04-02 12:37:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297183" "00296010" "1" "03644" "03644" "2020-04-02 12:46:56" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297184" "00296011" "1" "03644" "03644" "2020-04-02 12:57:24" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297185" "00296012" "1" "03644" "03644" "2020-04-02 13:09:25" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297186" "00296013" "1" "03644" "03644" "2020-04-02 13:15:13" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297187" "00296014" "1" "03644" "03644" "2020-04-02 13:19:13" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297188" "00296015" "1" "03644" "03644" "2020-04-02 13:25:15" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297189" "00296016" "1" "03644" "03644" "2020-04-02 13:48:24" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297307" "00296137" "1" "03644" "03644" "2020-04-03 15:17:08" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297419" "00296249" "1" "03644" "03644" "2020-04-03 15:22:56" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297420" "00296250" "1" "03644" "03644" "2020-04-03 15:33:25" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297421" "00296251" "1" "03644" "03644" "2020-04-03 15:37:34" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297423" "00296252" "1" "03644" "03644" "2020-04-03 15:41:41" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297424" "00296253" "1" "03644" "03644" "2020-04-03 15:46:08" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297425" "00296254" "1" "03644" "03644" "2020-04-03 15:51:07" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297426" "00296255" "1" "03644" "03644" "2020-04-03 15:58:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297427" "00296256" "1" "03644" "03644" "2020-04-03 16:02:55" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297428" "00296257" "1" "03644" "03644" "2020-04-03 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297786" "00296676" "1" "01164" "01164" "2020-04-10 08:53:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000297836" "00296726" "1" "00006" "00006" "2020-04-11 10:26:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304432" "00303307" "1" "02958" "00006" "2020-06-04 16:44:02" "" "" "MLPA;SEQ;SEQ-NG-I" "DNA" "blood" "panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI" "0000304433" "00303308" "1" "02958" "00006" "2020-06-04 16:44:02" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI" "0000304434" "00303309" "1" "02958" "00006" "2020-06-04 16:44:02" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI" "0000304435" "00303310" "1" "02958" "00006" "2020-06-04 16:44:02" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI" "0000304436" "00303311" "1" "02958" "00006" "2020-06-04 16:44:02" "" "" "MLPA;SEQ;SEQ-NG-I" "DNA" "blood" "panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI" "0000304437" "00303312" "1" "02958" "00006" "2020-06-04 16:44:02" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI" "0000304438" "00303313" "1" "02958" "00006" "2020-06-04 16:44:02" "" "" "MLPA;SEQ;SEQ-NG-I" "DNA" "blood" "panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI" "0000304439" "00303314" "1" "02958" "00006" "2020-06-04 16:44:02" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI" "0000304440" "00303315" "1" "02958" "00006" "2020-06-04 16:44:02" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI" "0000304441" "00303316" "1" "02958" "00006" "2020-06-04 16:44:02" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI" "0000304442" "00303317" "1" "02958" "00006" "2020-06-04 16:44:02" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI" "0000304443" "00303318" "1" "02958" "00006" "2020-06-04 16:44:02" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI" "0000304444" "00303319" "1" "02958" "00006" "2020-06-04 16:44:02" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI" "0000304445" "00303320" "1" "02958" "00006" "2020-06-04 16:44:02" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI" "0000304446" "00303321" "1" "02958" "00006" "2020-06-04 16:44:02" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI" "0000304447" "00303322" "1" "02958" "00006" "2020-06-04 16:44:02" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI" "0000304448" "00303323" "1" "02958" "00006" "2020-06-04 16:44:02" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI" "0000304449" "00303324" "1" "02958" "00006" "2020-06-04 16:44:02" "" "" "MLPA;SEQ;SEQ-NG-I" "DNA" "blood" "panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI" "0000304450" "00303325" "1" "02958" "00006" "2020-06-04 16:44:02" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" "panel FBN1,TGFBR1,TGFBR2,TGFB2,TGFB3,SMAD3,SKI" "0000305597" "00304468" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305598" "00304469" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305599" "00304470" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307298" "00306166" "1" "03731" "03731" "2020-07-09 17:14:04" "" "" "SEQ-NG-IT" "DNA" "blood" "" "0000307300" "00306167" "1" "03731" "03731" "2020-07-09 17:39:57" "" "" "SEQ-NG-IT" "DNA" "" "" "0000307301" "00306168" "1" "03731" "03731" "2020-07-09 18:03:15" "" "" "SEQ-NG-IT" "DNA" "blood" "" "0000309089" "00307945" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000325476" "00324286" "1" "02958" "00006" "2020-12-04 13:50:44" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "blood" "screened FBN1, TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD3, SKI" "0000325477" "00324287" "1" "02958" "00006" "2020-12-04 13:50:44" "" "" "MLPA;SEQ;SEQ-NG" "DNA" "blood" "screened FBN1, TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD3, SKI" "0000326601" "00325390" "1" "00006" "00006" "2021-01-02 12:18:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000327425" "00326211" "1" "01807" "01807" "2021-01-11 10:31:01" "" "" "SEQ" "DNA" "" "" "0000329604" "00328390" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000332652" "00331433" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332653" "00331434" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332654" "00331435" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332655" "00331436" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332656" "00331437" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360727" "00359497" "1" "01396" "01396" "2021-03-23 03:08:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000360824" "00359594" "1" "01741" "01741" "2021-03-29 11:00:19" "" "" "SEQ-NG" "DNA" "" "" "0000364573" "00363345" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364590" "00363362" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364612" "00363384" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000373637" "00372403" "1" "04070" "04070" "2021-05-08 08:24:15" "00006" "2021-05-11 10:17:17" "SEQ-NG" "DNA" "heart blood" "WGS" "0000374012" "00372767" "1" "04070" "04070" "2021-05-12 08:47:30" "00006" "2021-06-29 10:38:18" "RT-PCR;SEQ" "DNA;RNA" "heart blood" "WGS" "0000377667" "00376463" "1" "04101" "04101" "2021-06-24 16:09:24" "" "" "SEQ-NG-I" "DNA" "" "" "0000377669" "00376464" "1" "04101" "04101" "2021-06-24 16:21:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000377864" "00376659" "1" "04101" "04101" "2021-06-25 03:45:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000377865" "00376660" "1" "04101" "04101" "2021-06-25 03:49:54" "" "" "SEQ-NG-I" "DNA" "" "" "0000377866" "00376661" "1" "04101" "04101" "2021-06-25 03:53:44" "" "" "SEQ-NG-I" "DNA" "" "" "0000377867" "00376662" "1" "04101" "04101" "2021-06-25 04:04:28" "" "" "SEQ-NG-I" "DNA" "" "" "0000377868" "00376663" "1" "04101" "04101" "2021-06-25 04:08:05" "" "" "SEQ-NG-I" "DNA" "" "" "0000377869" "00376664" "1" "04101" "04101" "2021-06-25 04:13:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000377874" "00376669" "1" "04101" "04101" "2021-06-25 04:48:04" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000377876" "00376671" "1" "04101" "04101" "2021-06-25 05:02:24" "" "" "SEQ-NG-I" "DNA" "" "" "0000377877" "00376672" "1" "04101" "04101" "2021-06-25 05:09:55" "" "" "SEQ-NG" "DNA" "" "" "0000377878" "00376673" "1" "04101" "04101" "2021-06-25 09:22:31" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000377879" "00376674" "1" "04101" "04101" "2021-06-25 09:37:28" "" "" "SEQ-ON" "DNA" "blood" "gene panel" "0000377881" "00376675" "1" "04101" "04101" "2021-06-25 10:11:28" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000377949" "00376743" "1" "04101" "04101" "2021-06-25 10:34:12" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378005" "00376799" "1" "04101" "04101" "2021-06-25 14:53:39" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378006" "00376800" "1" "04101" "04101" "2021-06-25 14:57:25" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378007" "00376801" "1" "04101" "04101" "2021-06-25 14:59:11" "" "" "SEQ-NG-I" "DNA" "" "" "0000378008" "00376802" "1" "04101" "04101" "2021-06-25 15:03:30" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378009" "00376803" "1" "04101" "04101" "2021-06-25 15:13:48" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378010" "00376804" "1" "04101" "04101" "2021-06-25 15:18:58" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378011" "00376805" "1" "04101" "04101" "2021-06-25 15:28:56" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378012" "00376806" "1" "04101" "04101" "2021-06-25 15:37:36" "" "" "SEQ-NG" "DNA" "blood" "gene panel" "0000378013" "00376807" "1" "04101" "04101" "2021-06-25 15:42:29" "" "" "SEQ-NG-I" "DNA" "" "" "0000378014" "00376808" "1" "04101" "04101" "2021-06-25 15:46:22" "" "" "SEQ-NG-I" "DNA" "" "" "0000378032" "00376809" "1" "04101" "04101" "2021-06-25 15:50:42" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378033" "00376827" "1" "04101" "04101" "2021-06-25 15:54:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000378034" "00376829" "1" "04101" "04101" "2021-06-25 15:58:34" "" "" "SEQ-ON" "DNA" "" "" "0000378040" "00376830" "1" "04101" "04101" "2021-06-25 16:01:17" "" "" "SEQ-NG-I" "DNA" "" "" "0000378042" "00376837" "1" "04101" "04101" "2021-06-25 16:05:38" "" "" "SEQ-NG" "DNA" "" "" "0000378043" "00376838" "1" "04101" "04101" "2021-06-25 16:08:24" "" "" "SEQ-NG-I" "DNA" "" "" "0000378045" "00376840" "1" "04101" "04101" "2021-06-25 16:11:44" "" "" "SEQ-NG-I" "DNA" "" "" "0000378046" "00376841" "1" "04101" "04101" "2021-06-25 16:14:27" "" "" "SEQ-NG-I" "DNA" "" "" "0000378047" "00376842" "1" "04101" "04101" "2021-06-25 16:20:54" "" "" "SEQ-NG-I" "DNA" "" "" "0000378049" "00376844" "1" "04101" "04101" "2021-06-25 16:24:20" "" "" "SEQ-NG-I" "DNA" "" "" "0000378050" "00376845" "1" "04101" "04101" "2021-06-25 16:31:04" "" "" "SEQ-NG-I" "DNA" "" "" "0000378077" "00376872" "1" "04101" "04101" "2021-06-26 02:31:07" "" "" "SEQ-NG-I" "DNA" "" "" "0000378078" "00376873" "1" "04101" "04101" "2021-06-26 02:37:13" "" "" "SEQ-NG-I" "DNA" "" "" "0000378079" "00376875" "1" "04101" "04101" "2021-06-26 02:44:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000378080" "00376874" "1" "04101" "04101" "2021-06-26 03:40:16" "" "" "SEQ-NG-I" "DNA" "" "" "0000378081" "00376876" "1" "04101" "04101" "2021-06-26 03:45:04" "" "" "SEQ-NG-I" "DNA" "" "" "0000378082" "00376877" "1" "04101" "04101" "2021-06-26 03:48:01" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378083" "00376878" "1" "04101" "04101" "2021-06-26 03:51:24" "00006" "2021-06-28 19:41:22" "MLPA" "DNA" "" "" "0000378084" "00376879" "1" "04101" "04101" "2021-06-26 03:55:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000378085" "00376880" "1" "04101" "04101" "2021-06-26 03:59:14" "" "" "SEQ-NG-I" "DNA" "" "" "0000378086" "00376881" "1" "04101" "04101" "2021-06-26 04:02:22" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378087" "00376882" "1" "04101" "04101" "2021-06-26 04:07:11" "" "" "SEQ-NG-I" "DNA" "" "" "0000378088" "00376883" "1" "04101" "04101" "2021-06-26 04:10:06" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378089" "00376884" "1" "04101" "04101" "2021-06-26 04:14:06" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378090" "00376885" "1" "04101" "04101" "2021-06-26 04:17:07" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378091" "00376886" "1" "04101" "04101" "2021-06-26 04:24:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000378092" "00376887" "1" "04101" "04101" "2021-06-26 04:28:10" "" "" "SEQ-NG-I" "DNA" "" "" "0000378093" "00376888" "1" "04101" "04101" "2021-06-26 04:33:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000378094" "00376889" "1" "04101" "04101" "2021-06-26 04:35:59" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378095" "00376890" "1" "04101" "04101" "2021-06-26 04:41:55" "" "" "SEQ-NG-I" "DNA" "" "" "0000378096" "00376891" "1" "04101" "04101" "2021-06-26 04:44:51" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378097" "00376892" "1" "04101" "04101" "2021-06-26 04:52:01" "" "" "SEQ-NG-I" "DNA" "" "" "0000378098" "00376893" "1" "04101" "04101" "2021-06-26 09:32:56" "" "" "SEQ-NG-I" "DNA" "" "" "0000378099" "00376894" "1" "04101" "04101" "2021-06-26 09:39:12" "" "" "SEQ-NG-I" "DNA" "" "" "0000378100" "00376895" "1" "04101" "04101" "2021-06-26 09:43:39" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378101" "00376896" "1" "04101" "04101" "2021-06-26 09:46:19" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378102" "00376897" "1" "04101" "04101" "2021-06-26 09:57:56" "" "" "SEQ-NG-I" "DNA" "" "" "0000378103" "00376898" "1" "04101" "04101" "2021-06-26 10:00:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000378104" "00376899" "1" "04101" "04101" "2021-06-26 10:06:54" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378105" "00376900" "1" "04101" "04101" "2021-06-26 10:12:13" "" "" "SEQ-NG-I" "DNA" "" "" "0000378106" "00376901" "1" "04101" "04101" "2021-06-26 13:18:29" "" "" "SEQ-NG-I" "DNA" "" "" "0000378107" "00376902" "1" "04101" "04101" "2021-06-26 13:25:29" "" "" "SEQ-ON" "DNA" "" "" "0000378108" "00376903" "1" "04101" "04101" "2021-06-26 13:45:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000378109" "00376904" "1" "04101" "04101" "2021-06-26 13:47:50" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378110" "00376905" "1" "04101" "04101" "2021-06-26 13:51:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000378111" "00376906" "1" "04101" "04101" "2021-06-26 13:54:58" "" "" "SEQ-NG-I" "DNA" "" "" "0000378112" "00376907" "1" "04101" "04101" "2021-06-26 13:58:09" "" "" "SEQ-ON" "DNA" "" "" "0000378113" "00376908" "1" "04101" "04101" "2021-06-26 14:00:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000378114" "00376909" "1" "04101" "04101" "2021-06-26 14:04:16" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378115" "00376910" "1" "04101" "04101" "2021-06-26 14:08:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000378116" "00376911" "1" "04101" "04101" "2021-06-26 14:11:26" "" "" "SEQ-NG-I" "DNA" "" "" "0000378117" "00376912" "1" "04101" "04101" "2021-06-26 14:13:41" "" "" "SEQ-ON" "DNA" "" "" "0000378118" "00376913" "1" "04101" "04101" "2021-06-26 14:15:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000378119" "00376914" "1" "04101" "04101" "2021-06-26 14:18:06" "" "" "SEQ-ON" "DNA" "" "" "0000378120" "00376915" "1" "04101" "04101" "2021-06-26 14:20:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000378121" "00376916" "1" "04101" "04101" "2021-06-26 14:22:34" "" "" "SEQ-NG-I" "DNA" "" "" "0000378122" "00376917" "1" "04101" "04101" "2021-06-26 14:25:50" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378123" "00376918" "1" "04101" "04101" "2021-06-26 14:29:40" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378124" "00376919" "1" "04101" "04101" "2021-06-26 14:36:09" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378125" "00376920" "1" "04101" "04101" "2021-06-26 14:39:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000378126" "00376921" "1" "04101" "04101" "2021-06-26 14:44:16" "" "" "SEQ-NG-I" "DNA" "" "" "0000378127" "00376922" "1" "04101" "04101" "2021-06-26 14:47:20" "" "" "SEQ-ON" "DNA" "" "" "0000378128" "00376923" "1" "04101" "04101" "2021-06-26 14:49:42" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378129" "00376924" "1" "04101" "04101" "2021-06-26 14:53:55" "" "" "SEQ-NG-I" "DNA" "" "" "0000378130" "00376925" "1" "04101" "04101" "2021-06-26 14:56:33" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378131" "00376926" "1" "04101" "04101" "2021-06-26 14:59:41" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378133" "00376928" "1" "04101" "04101" "2021-06-26 15:53:13" "" "" "SEQ-NG-I" "DNA" "" "" "0000378134" "00376930" "1" "04101" "04101" "2021-06-26 16:03:51" "" "" "SEQ-NG-I" "DNA" "" "" "0000378136" "00376931" "1" "04101" "04101" "2021-06-26 16:08:31" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378138" "00376933" "1" "04101" "04101" "2021-06-26 16:21:14" "" "" "SEQ-NG-I" "DNA" "" "" "0000378139" "00376934" "1" "04101" "04101" "2021-06-26 16:24:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000378140" "00376935" "1" "04101" "04101" "2021-06-26 16:27:16" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378141" "00376937" "1" "04101" "04101" "2021-06-26 16:30:37" "00006" "2021-06-28 19:41:22" "SEQ-NG-I" "DNA" "" "" "0000378142" "00376938" "1" "04101" "04101" "2021-06-26 16:32:47" "" "" "SEQ-NG-I" "DNA" "" "" "0000378143" "00376936" "1" "04101" "04101" "2021-06-27 02:21:13" "" "" "SEQ-NG-I" "DNA" "" "" "0000378144" "00376939" "1" "04101" "04101" "2021-06-27 02:30:29" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378145" "00376940" "1" "04101" "04101" "2021-06-27 02:35:00" "" "" "SEQ-NG-I" "DNA" "" "" "0000378146" "00376941" "1" "04101" "04101" "2021-06-27 02:42:21" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378147" "00376942" "1" "04101" "04101" "2021-06-27 02:46:28" "" "" "SEQ-NG-I" "DNA" "" "" "0000378148" "00376943" "1" "04101" "04101" "2021-06-27 02:50:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000378149" "00376944" "1" "04101" "04101" "2021-06-27 08:15:07" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378150" "00376945" "1" "04101" "04101" "2021-06-27 08:18:12" "" "" "SEQ-NG-H" "DNA" "" "" "0000378151" "00376946" "1" "04101" "04101" "2021-06-27 08:20:50" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378152" "00376947" "1" "04101" "04101" "2021-06-27 08:25:43" "" "" "SEQ-NG-I" "DNA" "" "" "0000378153" "00376948" "1" "04101" "04101" "2021-06-27 08:32:50" "00006" "2021-06-28 19:41:22" "MLPA" "DNA" "" "" "0000378154" "00376949" "1" "04101" "04101" "2021-06-27 08:39:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000378155" "00376950" "1" "04101" "04101" "2021-06-27 08:43:17" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378156" "00376951" "1" "04101" "04101" "2021-06-27 08:46:07" "" "" "SEQ-ON" "DNA" "" "" "0000378157" "00376952" "1" "04101" "04101" "2021-06-27 09:01:10" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378158" "00376953" "1" "04101" "04101" "2021-06-27 09:09:12" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378159" "00376954" "1" "04101" "04101" "2021-06-27 09:16:38" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378160" "00376955" "1" "04101" "04101" "2021-06-27 09:19:27" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378161" "00376956" "1" "04101" "04101" "2021-06-27 09:25:27" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378162" "00376957" "1" "04101" "04101" "2021-06-27 09:29:46" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000378163" "00376958" "1" "04101" "04101" "2021-06-27 09:32:54" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 290 "{{screeningid}}" "{{geneid}}" "0000002942" "FBN1" "0000002943" "FBN1" "0000003963" "FBN1" "0000003963" "TGFBR1" "0000003963" "TGFBR2" "0000035804" "FBN1" "0000035805" "FBN1" "0000035806" "FBN1" "0000035807" "FBN1" "0000035808" "FBN1" "0000035809" "FBN1" "0000035810" "FBN1" "0000035811" "FBN1" "0000035812" "FBN1" "0000035813" "FBN1" "0000035814" "FBN1" "0000035815" "FBN1" "0000035816" "FBN1" "0000035817" "FBN1" "0000035818" "FBN1" "0000035819" "FBN1" "0000035820" "FBN1" "0000035821" "FBN1" "0000035822" "FBN1" "0000035823" "FBN1" "0000035824" "FBN1" "0000035825" "FBN1" "0000035826" "FBN1" "0000035827" "FBN1" "0000035828" "FBN1" "0000035829" "FBN1" "0000035830" "FBN1" "0000035831" "FBN1" "0000035832" "FBN1" "0000035833" "FBN1" "0000035834" "FBN1" "0000035835" "FBN1" "0000035836" "FBN1" "0000035837" "FBN1" "0000035838" "FBN1" "0000035839" "FBN1" "0000035840" "FBN1" "0000035841" "FBN1" "0000035842" "FBN1" "0000035843" "FBN1" "0000035844" "FBN1" "0000035845" "FBN1" "0000035846" "FBN1" "0000035847" "FBN1" "0000035848" "FBN1" "0000035849" "FBN1" "0000035850" "FBN1" "0000035851" "FBN1" "0000035852" "FBN1" "0000035853" "FBN1" "0000035854" "FBN1" "0000035855" "FBN1" "0000035856" "FBN1" "0000035857" "FBN1" "0000035858" "FBN1" "0000035859" "FBN1" "0000035860" "FBN1" "0000035861" "FBN1" "0000035862" "FBN1" "0000035863" "FBN1" "0000035864" "FBN1" "0000035865" "FBN1" "0000035866" "FBN1" "0000035867" "FBN1" "0000035868" "FBN1" "0000035869" "FBN1" "0000035870" "FBN1" "0000050441" "FBN1" "0000053009" "FBN1" "0000053010" "FBN1" "0000053011" "FBN1" "0000053012" "FBN1" "0000053013" "FBN1" "0000053016" "FBN1" "0000053016" "SKI" "0000081150" "FBN1" "0000100616" "FBN1" "0000152874" "FBN1" "0000165561" "FBN1" "0000165572" "FBN1" "0000181884" "FBN1" "0000181886" "FBN1" "0000208949" "FBN1" "0000208949" "TGFB1" "0000208949" "TGFB2" "0000230921" "FBN1" "0000230926" "FBN1" "0000270936" "FBN1" "0000270937" "FBN1" "0000275219" "FBN1" "0000297175" "FBN1" "0000297176" "FBN1" "0000297177" "FBN1" "0000297179" "FBN1" "0000297181" "FBN1" "0000297183" "FBN1" "0000297184" "FBN1" "0000297185" "FBN1" "0000297186" "FBN1" "0000297187" "FBN1" "0000297188" "FBN1" "0000297189" "FBN1" "0000297307" "FBN1" "0000297419" "FBN1" "0000297420" "FBN1" "0000297421" "FBN1" "0000297423" "FBN1" "0000297424" "FBN1" "0000297425" "FBN1" "0000297426" "FBN1" "0000297427" "FBN1" "0000297428" "FBN1" "0000297836" "FBN1" "0000304432" "FBN1" "0000304433" "FBN1" "0000304434" "FBN1" "0000304435" "FBN1" "0000304436" "FBN1" "0000304437" "FBN1" "0000304438" "FBN1" "0000304439" "FBN1" "0000304440" "FBN1" "0000304441" "FBN1" "0000304442" "FBN1" "0000304443" "FBN1" "0000304444" "FBN1" "0000304445" "FBN1" "0000304446" "FBN1" "0000304447" "FBN1" "0000304448" "FBN1" "0000304449" "FBN1" "0000304450" "FBN1" "0000307298" "ACTA2" "0000307298" "COL3A1" "0000307298" "FBN1" "0000307298" "MFAP5" "0000307298" "MYH11" "0000307298" "MYLK" "0000307298" "NOTCH1" "0000307298" "SMAD3" "0000307298" "TGFB2" "0000307298" "TGFB3" "0000307298" "TGFBR1" "0000307298" "TGFBR2" "0000307300" "FBN1" "0000307301" "ACTA2" "0000307301" "COL3A1" "0000307301" "FBN1" "0000307301" "MYH11" "0000307301" "MYLK" "0000307301" "NOTCH1" "0000307301" "SLC22A10" "0000307301" "SMAD3" "0000307301" "TGFB2" "0000307301" "TGFB3" "0000307301" "TGFBR1" "0000307301" "TGFBR2" "0000309089" "FBN1" "0000325476" "FBN1" "0000325477" "FBN1" "0000326601" "FBN1" "0000329604" "FBN1" "0000332652" "FBN1" "0000332653" "FBN1" "0000332654" "FBN1" "0000332655" "FBN1" "0000332656" "FBN1" "0000360727" "FBN1" "0000360824" "FBN1" "0000364573" "FBN1" "0000364590" "FBN1" "0000364612" "FBN1" "0000373637" "FBN1" "0000377667" "FBN1" "0000377669" "FBN1" "0000377866" "FBN1" "0000377867" "FBN1" "0000377868" "FBN1" "0000377869" "FBN1" "0000377874" "FBN1" "0000377878" "FBN1" "0000377879" "FBN1" "0000378006" "FBN1" "0000378007" "FBN1" "0000378008" "FBN1" "0000378009" "FBN1" "0000378010" "FBN1" "0000378011" "FBN1" "0000378012" "FBN1" "0000378013" "FBN1" "0000378014" "FBN1" "0000378032" "FBN1" "0000378033" "FBN1" "0000378040" "FBN1" "0000378042" "FBN1" "0000378043" "FBN1" "0000378045" "FBN1" "0000378046" "FBN1" "0000378047" "FBN1" "0000378049" "FBN1" "0000378050" "FBN1" "0000378077" "FBN1" "0000378078" "FBN1" "0000378079" "FBN1" "0000378080" "FBN1" "0000378081" "FBN1" "0000378082" "FBN1" "0000378083" "FBN1" "0000378084" "FBN1" "0000378085" "FBN1" "0000378086" "FBN1" "0000378087" "FBN1" "0000378088" "FBN1" "0000378089" "FBN1" "0000378090" "FBN1" "0000378091" "FBN1" "0000378092" "FBN1" "0000378093" "FBN1" "0000378094" "FBN1" "0000378095" "FBN1" "0000378096" "FBN1" "0000378097" "FBN1" "0000378098" "FBN1" "0000378099" "FBN1" "0000378100" "FBN1" "0000378101" "FBN1" "0000378102" "FBN1" "0000378103" "FBN1" "0000378104" "FBN1" "0000378105" "FBN1" "0000378106" "FBN1" "0000378107" "FBN1" "0000378108" "FBN1" "0000378109" "FBN1" "0000378110" "FBN1" "0000378111" "FBN1" "0000378112" "FBN1" "0000378113" "FBN1" "0000378114" "FBN1" "0000378115" "FBN1" "0000378116" "FBN1" "0000378117" "FBN1" "0000378118" "FBN1" "0000378119" "FBN1" "0000378120" "FBN1" "0000378121" "FBN1" "0000378122" "FBN1" "0000378123" "FBN1" "0000378124" "FBN1" "0000378125" "FBN1" "0000378126" "FBN1" "0000378127" "FBN1" "0000378128" "FBN1" "0000378129" "FBN1" "0000378130" "FBN1" "0000378131" "FBN1" "0000378133" "FBN1" "0000378134" "FBN1" "0000378136" "FBN1" "0000378138" "FBN1" "0000378139" "FBN1" "0000378140" "FBN1" "0000378141" "FBN1" "0000378142" "FBN1" "0000378143" "FBN1" "0000378144" "FBN1" "0000378145" "FBN1" "0000378146" "FBN1" "0000378147" "FBN1" "0000378148" "FBN1" "0000378149" "FBN1" "0000378150" "FBN1" "0000378151" "FBN1" "0000378152" "FBN1" "0000378153" "FBN1" "0000378154" "FBN1" "0000378155" "FBN1" "0000378156" "FBN1" "0000378157" "FBN1" "0000378158" "FBN1" "0000378159" "FBN1" "0000378160" "FBN1" "0000378161" "FBN1" "0000378162" "FBN1" "0000378163" "FBN1" ## 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 = 1446 "{{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}}" "0000021425" "10" "55" "15" "48784751" "48784751" "subst" "0" "00141" "FBN1_000001" "g.48784751A>G" "1/26" "" "" "" "" "Germline" "?" "" "0" "" "" "g.48492554A>G" "" "VUS" "" "0000021426" "1" "55" "15" "48784663" "48784663" "subst" "0" "00141" "FBN1_000002" "g.48784663C>G" "1/26" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.48492466C>G" "" "VUS" "" "0000022842" "0" "95" "15" "48780630" "48780630" "subst" "0" "00141" "FBN1_000070" "g.48780630A>G" "1/27 patients" "" "" "" "de novo in patient" "De novo" "yes" "" "0" "" "" "g.48488433A>G" "" "pathogenic" "" "0000062929" "1" "10" "15" "48720526" "48720526" "subst" "0.747237" "01164" "FBN1_000057" "g.48720526G>C" "frequency up to44%" "" "" "" "" "Germline" "" "rs363832" "0" "" "" "g.48428329G>C" "" "benign" "" "0000062930" "1" "90" "15" "48805839" "48805839" "subst" "0" "01164" "FBN1_000039" "g.48805839A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48513642A>G" "" "pathogenic" "" "0000062931" "1" "10" "15" "48763008" "48763008" "subst" "0" "01164" "FBN1_000061" "g.48763008A>T" "" "" "" "" "LCP only" "Germline" "" "rs75227249" "0" "" "" "g.48470811A>T" "" "benign" "" "0000062932" "1" "50" "15" "48729361" "48729361" "subst" "0" "01164" "FBN1_000008" "g.48729361G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48437164G>C" "" "VUS" "" "0000062933" "1" "50" "15" "48744862" "48744862" "subst" "0.0000975824" "01164" "FBN1_000017" "g.48744862G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48452665G>A" "" "VUS" "" "0000062934" "1" "50" "15" "48718303" "48718303" "subst" "0" "01164" "FBN1_000055" "g.48718303A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48426106A>T" "" "VUS" "" "0000062935" "1" "50" "15" "48779337" "48779337" "subst" "0" "01164" "FBN1_000051" "g.48779337A>G" "" "" "" "" "PolyPhen-2 :benign (PSIC: 0.091)" "Germline" "" "" "0" "" "" "g.48487140A>G" "" "VUS" "" "0000062936" "1" "10" "15" "48736684" "48736684" "subst" "0" "01164" "FBN1_000012" "g.48736684A>T" "frequency up to42%" "" "" "" "" "Germline" "" "rs2303502" "0" "" "" "g.48444487A>T" "" "benign" "" "0000062937" "1" "90" "15" "48779271" "48779271" "subst" "0" "01164" "FBN1_000050" "g.48779271C>T" "" "" "" "" "c.3589G>C described as pathogenic in Stheneur (2009) Eur J Hum Genet 17, 1121" "Germline" "" "" "0" "" "" "g.48487074C>T" "" "pathogenic" "" "0000062938" "1" "10" "15" "48729648" "48729648" "subst" "0" "01164" "FBN1_000010" "g.48729648T>C" "frequency up to10%" "" "" "" "" "Germline" "" "rs2042746" "0" "" "" "g.48437451T>C" "" "benign" "" "0000062939" "1" "10" "15" "48764942" "48764942" "subst" "0" "01164" "FBN1_000062" "g.48764942A>G" "" "" "" "" "" "Germline" "" "rs16960981" "0" "" "" "g.48472745A>G" "" "benign" "" "0000062940" "1" "10" "15" "48725206" "48725206" "subst" "0.0295989" "01164" "FBN1_000003" "g.48725206T>A" "" "" "" "" "" "Germline" "" "rs363823" "0" "" "" "g.48433009T>A" "" "benign" "" "0000062941" "1" "10" "15" "48888610" "48888610" "subst" "0.0158777" "01164" "FBN1_000032" "g.48888610T>C" "" "" "" "" "" "Germline" "" "rs116842662" "0" "" "" "g.48596413T>C" "" "benign" "" "0000062942" "1" "10" "15" "48812828" "48812828" "subst" "0.0322068" "01164" "FBN1_000030" "g.48812828T>C" "" "" "" "" "LCP only" "Germline" "" "rs55699652" "0" "" "" "g.48520631T>C" "" "benign" "" "0000062943" "1" "10" "15" "48762786" "48762786" "subst" "0" "01164" "FBN1_000027" "g.48762786C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48470589C>T" "" "benign" "" "0000062944" "1" "10" "15" "48797424" "48797424" "subst" "0" "01164" "FBN1_000036" "g.48797424C>A" "" "" "" "" "" "Germline" "" "rs8037304" "0" "" "" "g.48505227C>A" "" "benign" "" "0000062945" "1" "10" "15" "48797307" "48797307" "subst" "0.191862" "01164" "FBN1_000035" "g.48797307A>G" "" "" "" "" "" "Germline" "" "rs25458" "0" "" "" "g.48505110A>G" "" "benign" "" "0000062946" "1" "90" "15" "48888539" "48888539" "subst" "0" "01164" "FBN1_000031" "g.48888539C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48596342C>T" "" "pathogenic" "" "0000062947" "1" "90" "15" "48788301" "48788301" "subst" "0" "01164" "FBN1_000046" "g.48788301A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48496104A>C" "" "pathogenic" "" "0000062948" "1" "50" "15" "48714231" "48714231" "subst" "0" "01164" "FBN1_000053" "g.48714231G>C" "" "" "" "" "(c.7487G>A,p.Cys2496Tyr Hung (2009) Ann Hum Genet 73, 559); PolyPhen-2:probably damaging (PSIC:0.997)" "Germline" "" "" "0" "" "" "g.48422034G>C" "" "VUS" "" "0000062949" "1" "10" "15" "48726933" "48726933" "subst" "0.0396657" "01164" "FBN1_000005" "g.48726933C>G" "" "" "" "" "" "Germline" "" "rs3825962" "0" "" "" "g.48434736C>G" "" "benign" "" "0000062950" "1" "10" "15" "48779257" "48779261" "del" "0" "01164" "FBN1_000048" "g.48779257_48779261del" "" "" "" "" "" "Germline" "" "rs72158035" "0" "" "" "g.48487060_48487064del" "" "benign" "" "0000062951" "1" "10" "15" "48779402" "48779402" "subst" "0.168696" "01164" "FBN1_000052" "g.48779402C>T" "" "" "" "" "" "Germline" "" "rs11853943" "0" "" "" "g.48487205C>T" "" "benign" "" "0000062952" "1" "90" "15" "48740980" "48740980" "subst" "0" "01164" "FBN1_000016" "g.48740980G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48448783G>A" "" "pathogenic" "" "0000062953" "1" "50" "15" "48805725" "48805725" "subst" "0.00115112" "01164" "FBN1_000038" "g.48805725C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48513528C>T" "" "VUS" "" "0000062954" "1" "10" "15" "48722884" "48722884" "subst" "0.0295853" "01164" "FBN1_000059" "g.48722884A>G" "" "" "" "" "" "Germline" "" "rs363836" "0" "" "" "g.48430687A>G" "" "benign" "" "0000062955" "1" "10" "15" "48779530" "48779530" "subst" "0.0310706" "01164" "FBN1_000043" "g.48779530G>C" "" "" "" "" "" "Germline" "" "rs140598" "0" "" "" "g.48487333G>C" "" "benign" "" "0000062956" "1" "50" "15" "48757802" "48757802" "subst" "0.00341823" "01164" "FBN1_000021" "g.48757802G>C" "" "" "" "" "found in a patient in combination with pathogenic FBN1 mutation" "Germline" "" "rs113115949" "0" "" "" "g.48465605G>C" "" "VUS" "" "0000062957" "1" "10" "15" "48902965" "48902965" "subst" "0.00377317" "01164" "FBN1_000033" "g.48902965G>A" "" "" "" "" "found in a patient in combination with pathogenic mutation p.Cys805Trp" "Germline" "" "rs25388" "0" "" "" "g.48610768G>A" "" "benign" "" "0000062958" "1" "50" "15" "48702230" "48702230" "del" "0" "01164" "FBN1_000069" "g.48702230del" "" "" "" "" "found in a patient in combination with pathogenic mutation" "Germline" "" "" "0" "" "" "g.48410033del" "" "VUS" "" "0000062959" "1" "50" "15" "48766769" "48766769" "subst" "0" "01164" "FBN1_000064" "g.48766769C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48474572C>T" "" "VUS" "" "0000062960" "1" "90" "15" "48797223" "48797224" "dup" "0" "01164" "FBN1_000034" "g.48797223_48797224dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48505026_48505027dup" "" "pathogenic" "" "0000062961" "1" "10" "15" "48720652" "48720652" "subst" "0.029553" "01164" "FBN1_000058" "g.48720652C>T" "" "" "" "" "" "Germline" "" "rs363830" "0" "" "" "g.48428455C>T" "" "benign" "" "0000062962" "1" "50" "15" "48726813" "48726813" "subst" "0.003415" "01164" "FBN1_000004" "g.48726813G>A" "" "" "" "" "foundin a patient in combination with pathogenic mutation" "Germline" "" "rs111844882" "0" "" "" "g.48434616G>A" "" "VUS" "" "0000062963" "1" "50" "15" "48808532" "48808532" "subst" "0.0000040816" "01164" "FBN1_000029" "g.48808532G>A" "" "" "" "" "PolyPhen-2: benign (PSIC:0.001)" "Germline" "" "" "0" "" "" "g.48516335G>A" "" "VUS" "" "0000062964" "1" "50" "15" "48740943" "48740943" "dup" "0" "01164" "FBN1_000015" "g.48740943dup" "" "" "" "" "found in a patient in combination with pathogenic mutation" "Germline" "" "rs55649234" "0" "" "" "g.48448746dup" "" "VUS" "" "0000062965" "1" "10" "15" "48760545" "48760545" "subst" "0" "01164" "FBN1_000026" "g.48760545T>C" "" "" "" "" "" "Germline" "" "rs2279235" "0" "" "" "g.48468348T>C" "" "benign" "" "0000062966" "1" "50" "15" "48757926" "48757926" "subst" "0.00341525" "01164" "FBN1_000022" "g.48757926T>C" "" "" "" "" "found in a patient in combination with pathogenic mutation" "Germline" "" "rs142367537" "0" "" "" "g.48465729T>C" "" "VUS" "" "0000062967" "1" "90" "15" "48760294" "48760294" "subst" "0" "01164" "FBN1_000025" "g.48760294G>A" "" "" "" "" "" "Germline" "" "rs111401431" "0" "" "" "g.48468097G>A" "" "pathogenic" "" "0000062968" "1" "50" "15" "48766680" "48766680" "subst" "0.00343765" "01164" "FBN1_000063" "g.48766680T>C" "" "" "" "" "found in a patient in combination with pathogenic mutation" "Germline" "" "rs111676388" "0" "" "" "g.48474483T>C" "" "VUS" "" "0000062969" "1" "50" "15" "48800870" "48800870" "subst" "0.00343081" "01164" "FBN1_000037" "g.48800870G>A" "" "" "" "" "found in a patient in combination with pathogenic mutation" "Germline" "" "rs112366266" "0" "" "" "g.48508673G>A" "" "VUS" "" "0000062970" "1" "90" "15" "48776092" "48776092" "subst" "0" "01164" "FBN1_000067" "g.48776092C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48483895C>T" "" "pathogenic" "" "0000062971" "1" "10" "15" "48773691" "48773691" "subst" "0" "01164" "FBN1_000066" "g.48773691C>A" "" "" "" "" "LCP only" "Germline" "" "rs34070783" "0" "" "" "g.48481494C>A" "" "benign" "" "0000062972" "1" "50" "15" "48738866" "48738866" "subst" "0" "01164" "FBN1_000013" "g.48738866T>C" "" "" "" "" "found in a patient in combination with pathogenic mutation" "Germline" "" "" "0" "" "" "g.48446669T>C" "" "VUS" "" "0000062973" "1" "10" "15" "48779220" "48779224" "del" "0" "01164" "FBN1_000068" "g.48779220_48779224del" "" "" "" "" "" "Germline" "" "rs72132658" "0" "" "" "g.48487023_48487027del" "" "benign" "" "0000062974" "1" "10" "15" "48729359" "48729359" "subst" "0" "01164" "FBN1_000007" "g.48729359A>T" "" "" "" "" "" "Germline" "" "rs363817" "0" "" "" "g.48437162A>T" "" "benign" "" "0000062975" "1" "10" "15" "48729404" "48729404" "subst" "0" "01164" "FBN1_000009" "g.48729404G>A" "" "" "" "" "" "Germline" "" "rs1991330" "0" "" "" "g.48437207G>A" "" "benign" "" "0000062976" "1" "50" "15" "48773647" "48773647" "subst" "0" "01164" "FBN1_000065" "g.48773647G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48481450G>A" "" "VUS" "" "0000062977" "1" "90" "15" "48758016" "48758016" "subst" "0" "01164" "FBN1_000023" "g.48758016C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48465819C>G" "" "pathogenic" "" "0000062978" "1" "90" "15" "48730095" "48730095" "dup" "0" "01164" "FBN1_000011" "g.48730095dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48437898dup" "" "pathogenic" "" "0000062979" "1" "10" "15" "48806027" "48806027" "subst" "0" "01164" "FBN1_000041" "g.48806027T>C" "" "" "" "" "" "Germline" "" "rs8034829" "0" "" "" "g.48513830T>C" "" "benign" "" "0000062980" "1" "10" "15" "48719757" "48719757" "subst" "0.0000773458" "01164" "FBN1_000056" "g.48719757G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48427560G>C" "" "benign" "" "0000062981" "1" "10" "15" "48789634" "48789634" "subst" "0.278184" "01164" "FBN1_000047" "g.48789634T>C" "" "" "" "" "" "Germline" "" "rs140605" "0" "" "" "g.48497437T>C" "" "benign" "" "0000062982" "1" "10" "15" "48758132" "48758132" "subst" "0" "01164" "FBN1_000024" "g.48758132A>C" "" "" "" "" "LCP only" "Germline" "" "rs55694948" "0" "" "" "g.48465935A>C" "" "benign" "" "0000062983" "1" "10" "15" "48780511" "48780516" "del" "0" "01164" "FBN1_000044" "g.48780511_48780516del" "" "" "" "" "" "Germline" "" "rs143836403" "0" "" "" "g.48488314_48488319del" "" "benign" "" "0000062984" "1" "50" "15" "48807631" "48807631" "subst" "0" "01164" "FBN1_000042" "g.48807631C>T" "" "" "" "" "PolyPhen-2: probably damaging (PSIC:0.986)" "Germline" "" "" "0" "" "" "g.48515434C>T" "" "VUS" "" "0000062985" "1" "50" "15" "48725102" "48725102" "subst" "0.000785223" "01164" "FBN1_000060" "g.48725102C>T" "" "" "" "" "" "Germline" "" "rs112084407" "0" "" "" "g.48432905C>T" "" "VUS" "" "0000062986" "1" "10" "15" "48779257" "48779261" "dup" "0" "01164" "FBN1_000049" "g.48779257_48779261dup" "" "" "" "" "" "Germline" "" "rs72158035" "0" "" "" "g.48487060_48487064dup" "" "benign" "" "0000062987" "1" "90" "15" "48780564" "48780564" "subst" "0" "01164" "FBN1_000045" "g.48780564C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48488367C>T" "" "pathogenic" "" "0000062988" "1" "90" "15" "48718026" "48718026" "subst" "0" "01164" "FBN1_000054" "g.48718026G>A" "" "" "" "" "" "Germline" "" "rs112550005" "0" "" "" "g.48425829G>A" "" "pathogenic" "" "0000062989" "1" "10" "15" "48726959" "48726959" "subst" "0.000359842" "01164" "FBN1_000006" "g.48726959C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48434762C>T" "" "benign" "" "0000062990" "1" "10" "15" "48807637" "48807637" "subst" "1" "01164" "FBN1_000028" "g.48807637C>T" "" "" "" "" "A=WT, dbSNP!\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs4775765" "0" "" "" "g.48515440C>T" "" "benign" "" "0000062991" "1" "10" "15" "48748913" "48748913" "subst" "0.0048432" "01164" "FBN1_000018" "g.48748913C>T" "frequency up to 4%" "" "" "" "" "Germline" "" "rs140649" "0" "" "" "g.48456716C>T" "" "benign" "" "0000062992" "1" "50" "15" "48805960" "48805960" "subst" "0" "01164" "FBN1_000040" "g.48805960C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48513763C>T" "" "VUS" "" "0000062993" "1" "50" "15" "48756287" "48756287" "subst" "0" "01164" "FBN1_000020" "g.48756287T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48464090T>C" "" "VUS" "" "0000062994" "1" "10" "15" "48739082" "48739082" "subst" "0" "01164" "FBN1_000014" "g.48739082C>A" "" "" "" "" "" "Germline" "" "rs363800" "0" "" "" "g.48446885C>A" "" "benign" "" "0000062995" "1" "10" "15" "48755472" "48755472" "subst" "0.0702336" "01164" "FBN1_000019" "g.48755472G>A" "" "" "" "" "LCP only" "Germline" "" "rs77105137" "0" "" "" "g.48463275G>A" "" "benign" "" "0000079421" "21" "90" "15" "48738953" "48738953" "subst" "0.00000406881" "00006" "FBN1_000071" "g.48738953T>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "Germline" "" "" "0" "" "" "g.48446756T>C" "" "pathogenic" "" "0000082941" "0" "90" "15" "48892393" "48892393" "subst" "0" "01450" "FBN1_000075" "g.48892393A>C" "1/200" "" "" "" "de novo, germline and somatic mosaicism" "De novo" "" "" "0" "" "" "g.48600196A>C" "" "pathogenic" "" "0000082943" "0" "90" "15" "48818414" "48818414" "del" "0" "00154" "FBN1_000073" "g.48818414del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48526217del" "" "pathogenic" "" "0000082944" "0" "70" "15" "48802321" "48802321" "subst" "0" "00154" "FBN1_000072" "g.48802321C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48510124C>G" "" "likely pathogenic" "" "0000082945" "10" "90" "15" "48797258" "48797258" "subst" "0" "00154" "FBN1_000078" "g.48797258C>A" "" "yes" "" "" "" "Germline" "" "" "0" "" "" "g.48505061C>A" "" "pathogenic" "" "0000082946" "0" "90" "15" "48782093" "48782093" "subst" "0" "00154" "FBN1_000077" "g.48782093C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48489896C>T" "" "pathogenic" "" "0000082948" "0" "90" "15" "48776092" "48776092" "subst" "0" "00006" "FBN1_000067" "g.48776092C>T" "" "{PMID:Carmignac 2014:23103230}, {DOI:Carmignac 2014:10.1016/j.ajhg.2012.10.002}" "" "Cys1254Tyr" "" "De novo" "-" "" "0" "" "" "g.48483895C>T" "" "pathogenic" "" "0000130236" "0" "70" "15" "48703528" "48703528" "subst" "0" "01758" "FBN1_000079" "g.48703528C>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.48411331C>A" "" "likely pathogenic" "ACMG" "0000162916" "0" "90" "15" "48748877" "48748877" "subst" "0" "01741" "FBN1_000080" "g.48748877A>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "needs Curator approval" "" "g.48456680A>T" "" "pathogenic" "" "0000225085" "0" "90" "15" "48737660" "48737661" "dup" "0" "01807" "FBN1_000081" "g.48737660_48737661dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48445463_48445464dup" "" "pathogenic" "" "0000248165" "0" "50" "15" "48787697" "48787697" "subst" "0.00000813703" "02325" "FBN1_000167" "g.48787697A>T" "" "" "" "FBN1(NM_000138.4):c.2508T>A (p.S836R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48495500A>T" "" "VUS" "" "0000249910" "0" "10" "15" "48797307" "48797307" "subst" "0.191862" "02329" "FBN1_000035" "g.48797307A>G" "" "" "" "FBN1(NM_000138.4):c.1875T>C (p.N625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48505110A>G" "" "benign" "" "0000249954" "0" "10" "15" "48703301" "48703301" "subst" "0.00112544" "02329" "FBN1_000083" "g.48703301A>G" "" "" "" "FBN1(NM_000138.4):c.8502T>C (p.T2834=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48411104A>G" "" "benign" "" "0000249976" "0" "30" "15" "48766468" "48766468" "subst" "0" "02329" "FBN1_000144" "g.48766468A>G" "" "" "" "FBN1(NM_000138.4):c.4194T>C (p.D1398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48474271A>G" "" "likely benign" "" "0000250124" "0" "10" "15" "48722884" "48722884" "subst" "0.0295853" "02329" "FBN1_000059" "g.48722884A>G" "" "" "" "FBN1(NM_000138.4):c.6855T>C (p.(=), p.D2285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48430687A>G" "" "benign" "" "0000250474" "0" "30" "15" "48752527" "48752527" "subst" "0.0000367857" "02329" "FBN1_000134" "g.48752527A>C" "" "" "" "FBN1(NM_000138.4):c.5225-13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48460330A>C" "" "likely benign" "" "0000250494" "0" "70" "15" "48936935" "48936935" "subst" "0" "02329" "FBN1_000203" "g.48936935A>C" "" "" "" "FBN1(NM_000138.4):c.32T>G (p.L11R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48644738A>C" "" "likely pathogenic" "" "0000250561" "0" "50" "15" "48726858" "48726858" "subst" "0" "02329" "FBN1_000115" "g.48726858A>T" "" "" "" "FBN1(NM_000138.4):c.6549T>A (p.N2183K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48434661A>T" "" "VUS" "" "0000250822" "0" "70" "15" "48712949" "48712949" "subst" "0.0000162819" "02326" "FBN1_000213" "g.48712949A>G" "" "" "" "FBN1(NM_000138.4):c.7754T>C (p.I2585T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48420752A>G" "" "likely pathogenic" "" "0000251583" "0" "10" "15" "48704963" "48704963" "subst" "0.000749473" "02326" "FBN1_000091" "g.48704963A>G" "" "" "" "FBN1(NM_000138.4):c.8052-23T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48412766A>G" "" "benign" "" "0000251584" "0" "10" "15" "48787793" "48787793" "subst" "0.000260275" "02326" "FBN1_000215" "g.48787793A>G" "" "" "" "FBN1(NM_000138.4):c.2420-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48495596A>G" "" "benign" "" "0000251806" "0" "30" "15" "48902998" "48902998" "subst" "0.0000650089" "02326" "FBN1_000197" "g.48902998A>G" "" "" "" "FBN1(NM_000138.4):c.273T>C (p.D91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48610801A>G" "" "likely benign" "" "0000252245" "0" "30" "15" "48784790" "48784790" "del" "0" "02326" "FBN1_000161" "g.48784790del" "" "" "" "FBN1(NM_000138.4):c.2729-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48492593del" "" "likely benign" "" "0000252455" "0" "70" "15" "48757759" "48757759" "subst" "0" "02326" "FBN1_000135" "g.48757759A>G" "" "" "" "FBN1(NM_000138.4):c.4942+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48465562A>G" "" "likely pathogenic" "" "0000253134" "0" "10" "15" "48797307" "48797307" "subst" "0.191862" "01943" "FBN1_000035" "g.48797307A>G" "" "" "" "FBN1(NM_000138.4):c.1875T>C (p.N625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48505110A>G" "" "benign" "" "0000254045" "0" "30" "15" "48703301" "48703301" "subst" "0.00112544" "01943" "FBN1_000083" "g.48703301A>G" "" "" "" "FBN1(NM_000138.4):c.8502T>C (p.T2834=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48411104A>G" "" "likely benign" "" "0000254067" "0" "30" "15" "48766468" "48766468" "subst" "0" "01943" "FBN1_000144" "g.48766468A>G" "" "" "" "FBN1(NM_000138.4):c.4194T>C (p.D1398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48474271A>G" "" "likely benign" "" "0000255344" "0" "70" "15" "48712949" "48712949" "subst" "0.0000162819" "01943" "FBN1_000213" "g.48712949A>G" "" "" "" "FBN1(NM_000138.4):c.7754T>C (p.I2585T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48420752A>G" "" "likely pathogenic" "" "0000255379" "0" "70" "15" "48762829" "48762829" "subst" "0" "01943" "FBN1_000141" "g.48762829A>C" "" "" "" "FBN1(NM_000138.4):c.4459+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48470632A>C" "" "likely pathogenic" "" "0000255803" "0" "50" "15" "48787697" "48787697" "subst" "0.00000813703" "01943" "FBN1_000167" "g.48787697A>T" "" "" "" "FBN1(NM_000138.4):c.2508T>A (p.S836R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48495500A>T" "" "VUS" "" "0000256116" "0" "50" "15" "48787754" "48787754" "subst" "0.00000813517" "01943" "FBN1_000214" "g.48787754A>C" "" "" "" "FBN1(NM_000138.4):c.2451T>G (p.I817M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48495557A>C" "" "VUS" "" "0000280730" "0" "10" "15" "48807637" "48807637" "subst" "1" "02325" "FBN1_000028" "g.48807637C>T" "" "" "" "FBN1(NM_000138.4):c.1415G>A (p.C472Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48515440=" "" "benign" "" "0000280731" "0" "10" "15" "48780353" "48780353" "subst" "0.00803655" "02325" "FBN1_000156" "g.48780353G>A" "" "" "" "FBN1(NM_000138.4):c.3294C>T (p.D1098=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48488156G>A" "" "benign" "" "0000280732" "0" "70" "15" "48760723" "48760723" "subst" "0" "02325" "FBN1_000139" "g.48760723C>T" "" "" "" "FBN1(NM_000138.4):c.4468G>A (p.E1490K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48468526C>T" "" "likely pathogenic" "" "0000280733" "0" "50" "15" "48936908" "48936908" "subst" "0.00015437" "02325" "FBN1_000202" "g.48936908T>C" "" "" "" "FBN1(NM_000138.4):c.59A>G (p.Y20C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48644711T>C" "" "VUS" "" "0000280734" "0" "10" "15" "48734008" "48734008" "subst" "0.00031759" "02325" "FBN1_000123" "g.48734008C>A" "" "" "" "FBN1(NM_000138.4):c.6073G>T (p.A2025S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48441811C>A" "" "benign" "" "0000280735" "0" "10" "15" "48720526" "48720526" "subst" "0.747237" "02325" "FBN1_000057" "g.48720526G>C" "" "" "" "FBN1(NM_000138.4):c.6997+17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48428329G>C" "" "benign" "" "0000283013" "0" "30" "15" "48812977" "48812977" "subst" "0.00000812671" "02329" "FBN1_000184" "g.48812977G>A" "" "" "" "FBN1(NM_000138.4):c.1026C>T (p.N342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48520780G>A" "" "likely benign" "" "0000283014" "0" "90" "15" "48812856" "48812856" "subst" "0" "02329" "FBN1_000182" "g.48812856C>T" "" "" "" "FBN1(NM_000138.4):c.1147G>A (p.E383K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48520659C>T" "" "pathogenic" "" "0000283015" "0" "30" "15" "48808373" "48808373" "subst" "0.000069095" "02329" "FBN1_000179" "g.48808373T>C" "" "" "" "FBN1(NM_000138.4):c.1327+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48516176T>C" "" "likely benign" "" "0000283016" "0" "10" "15" "48807637" "48807637" "subst" "1" "02329" "FBN1_000028" "g.48807637C>T" "" "" "" "FBN1(NM_000138.4):c.1415G>A (p.C472Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48515440=" "" "benign" "" "0000283017" "0" "70" "15" "48807599" "48807599" "subst" "0" "02329" "FBN1_000177" "g.48807599G>A" "" "" "" "FBN1(NM_000138.4):c.1453C>T (p.R485C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48515402G>A" "" "likely pathogenic" "" "0000283018" "0" "30" "15" "48936817" "48936817" "subst" "0" "02329" "FBN1_000200" "g.48936817G>A" "" "" "" "FBN1(NM_000138.4):c.150C>T (p.H50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48644620G>A" "" "likely benign" "" "0000283019" "0" "10" "15" "48936811" "48936811" "subst" "0.0158343" "02329" "FBN1_000199" "g.48936811C>A" "" "" "" "FBN1(NM_000138.4):c.156G>T (p.A52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48644614C>A" "" "benign" "" "0000283020" "0" "90" "15" "48802322" "48802322" "subst" "0" "02329" "FBN1_000175" "g.48802322G>A" "" "" "" "FBN1(NM_000138.4):c.1633C>T (p.R545C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48510125G>A" "" "pathogenic" "" "0000283021" "0" "90" "15" "48802277" "48802280" "del" "0" "02329" "FBN1_000174" "g.48802277_48802280del" "" "" "" "FBN1(NM_000138.4):c.1677_1680delGGGC (p.G560Ffs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48510080_48510083del" "" "pathogenic" "" "0000283022" "0" "10" "15" "48800870" "48800870" "subst" "0.00343081" "02329" "FBN1_000037" "g.48800870G>A" "" "" "" "FBN1(NM_000138.4):c.1746C>T (p.C582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48508673G>A" "" "benign" "" "0000283023" "0" "10" "15" "48796042" "48796042" "subst" "0.000743262" "02329" "FBN1_000170" "g.48796042G>A" "" "" "" "FBN1(NM_000138.4):c.2055C>T (p.C685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48503845G>A" "" "benign" "" "0000283024" "0" "30" "15" "48788376" "48788376" "subst" "0" "02329" "FBN1_000169" "g.48788376T>C" "" "" "" "FBN1(NM_000138.4):c.2340A>G (p.Q780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48496179T>C" "" "likely benign" "" "0000283025" "0" "50" "15" "48787425" "48787425" "subst" "0" "02329" "FBN1_000166" "g.48787425T>C" "" "" "" "FBN1(NM_000138.4):c.2572A>G (p.I858V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48495228T>C" "" "VUS" "" "0000283026" "0" "30" "15" "48787360" "48787360" "subst" "0.0000649989" "02329" "FBN1_000165" "g.48787360G>A" "" "" "" "FBN1(NM_000138.4):c.2637C>T (p.L879=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48495163G>A" "" "likely benign" "" "0000283027" "0" "10" "15" "48786466" "48786466" "subst" "0.000742269" "02329" "FBN1_000163" "g.48786466G>A" "" "" "" "FBN1(NM_000138.4):c.2678-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48494269G>A" "" "benign" "" "0000283028" "0" "10" "15" "48782284" "48782284" "subst" "0.00117" "02329" "FBN1_000160" "g.48782284G>A" "" "" "" "FBN1(NM_000138.4):c.2855-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48490087G>A" "" "benign" "" "0000283029" "0" "30" "15" "48782235" "48782235" "subst" "0.000328945" "02329" "FBN1_000159" "g.48782235C>T" "" "" "" "FBN1(NM_000138.4):c.2895G>A (p.E965=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48490038C>T" "" "likely benign" "" "0000283030" "0" "70" "15" "48782093" "48782093" "subst" "0" "02329" "FBN1_000077" "g.48782093C>T" "" "" "" "FBN1(NM_000138.4):c.3037G>A (p.G1013R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48489896C>T" "" "likely pathogenic" "" "0000283031" "0" "10" "15" "48782061" "48782061" "subst" "0.00182256" "02329" "FBN1_000158" "g.48782061C>T" "" "" "" "FBN1(NM_000138.4):c.3069G>A (p.K1023=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48489864C>T" "" "benign" "" "0000283032" "0" "10" "15" "48902965" "48902965" "subst" "0.00377317" "02329" "FBN1_000033" "g.48902965G>A" "" "" "" "FBN1(NM_000138.4):c.306C>T (p.C102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48610768G>A" "" "benign" "" "0000283033" "0" "10" "15" "48780353" "48780353" "subst" "0.00803655" "02329" "FBN1_000156" "g.48780353G>A" "" "" "" "FBN1(NM_000138.4):c.3294C>T (p.D1098=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48488156G>A" "" "benign" "" "0000283034" "0" "10" "15" "48779530" "48779530" "subst" "0.0310706" "02329" "FBN1_000043" "g.48779530G>C" "" "" "" "FBN1(NM_000138.4):c.3442C>G (p.(Pro1148Ala), p.P1148A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48487333G>C" "" "benign" "" "0000283035" "0" "10" "15" "48779506" "48779506" "subst" "0.00338263" "02329" "FBN1_000150" "g.48779506T>C" "" "" "" "FBN1(NM_000138.4):c.3463+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48487309T>C" "" "benign" "" "0000283036" "0" "10" "15" "48779402" "48779402" "subst" "0.168696" "02329" "FBN1_000052" "g.48779402C>T" "" "" "" "FBN1(NM_000138.4):c.3464-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48487205C>T" "" "benign" "" "0000283037" "0" "90" "15" "48779403" "48779403" "subst" "0" "02329" "FBN1_000149" "g.48779403G>T" "" "" "" "FBN1(NM_000138.4):c.3464-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48487206G>T" "" "pathogenic" "" "0000283038" "0" "30" "15" "48779352" "48779352" "subst" "0.00123452" "02329" "FBN1_000147" "g.48779352C>T" "" "" "" "FBN1(NM_000138.4):c.3509G>A (p.R1170H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48487155C>T" "" "likely benign" "" "0000283039" "0" "90" "15" "48773888" "48773888" "subst" "0" "02329" "FBN1_000146" "g.48773888C>A" "" "" "" "FBN1(NM_000138.4):c.3928G>T (p.G1310C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48481691C>A" "" "pathogenic" "" "0000283040" "0" "90" "15" "48766575" "48766575" "subst" "0" "02329" "FBN1_000145" "g.48766575C>A" "" "" "" "FBN1(NM_000138.4):c.4088-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48474378C>A" "" "pathogenic" "" "0000283041" "0" "30" "15" "48888588" "48888588" "subst" "0" "02329" "FBN1_000195" "g.48888588G>A" "" "" "" "FBN1(NM_000138.4):c.443-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48596391G>A" "" "likely benign" "" "0000283042" "0" "10" "15" "48760750" "48760750" "subst" "0.0246416" "02329" "FBN1_000140" "g.48760750T>C" "" "" "" "FBN1(NM_000138.4):c.4460-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48468553T>C" "" "benign" "" "0000283043" "0" "10" "15" "48757802" "48757802" "subst" "0.00341823" "02329" "FBN1_000021" "g.48757802G>C" "" "" "" "FBN1(NM_000138.4):c.4905C>G (p.T1635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48465605G>C" "" "benign" "" "0000283044" "0" "90" "15" "48888509" "48888509" "subst" "0" "02329" "FBN1_000194" "g.48888509T>C" "" "" "" "FBN1(NM_000138.4):c.509A>G (p.Y170C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48596312T>C" "" "pathogenic" "" "0000283045" "0" "10" "15" "48888508" "48888508" "subst" "0.000576903" "02329" "FBN1_000193" "g.48888508G>A" "" "" "" "FBN1(NM_000138.4):c.510C>T (p.Y170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48596311G>A" "" "benign" "" "0000283046" "0" "90" "15" "48752496" "48752497" "del" "0" "02329" "FBN1_000133" "g.48752496_48752497del" "" "" "" "FBN1(NM_000138.4):c.5244_5245delTG (p.C1748Wfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48460299_48460300del" "" "pathogenic" "" "0000283047" "0" "10" "15" "48748913" "48748913" "subst" "0.0048432" "02329" "FBN1_000018" "g.48748913C>T" "" "" "" "FBN1(NM_000138.4):c.5343G>A (p.V1781=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48456716C>T" "" "benign" "" "0000283048" "0" "90" "15" "48738992" "48738992" "subst" "0" "02329" "FBN1_000129" "g.48738992C>G" "" "" "" "FBN1(NM_000138.4):c.5699G>C (p.C1900S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48446795C>G" "" "pathogenic" "" "0000283049" "0" "50" "15" "48738915" "48738915" "subst" "0" "02329" "FBN1_000128" "g.48738915T>C" "" "" "" "FBN1(NM_000138.4):c.5776A>G (p.N1926D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48446718T>C" "" "VUS" "" "0000283051" "0" "90" "15" "48729242" "48729242" "subst" "0" "02329" "FBN1_000119" "g.48729242T>A" "" "" "" "FBN1(NM_000138.4):c.6412A>T (p.K2138*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48437045T>A" "" "pathogenic" "" "0000283052" "0" "90" "15" "48729201" "48729201" "subst" "0" "02329" "FBN1_000118" "g.48729201G>A" "" "" "" "FBN1(NM_000138.4):c.6453C>T (p.C2151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48437004G>A" "" "pathogenic" "" "0000283053" "0" "90" "15" "48726865" "48726865" "subst" "0" "02329" "FBN1_000116" "g.48726865C>G" "" "" "" "FBN1(NM_000138.4):c.6542G>C (p.C2181S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48434668C>G" "" "pathogenic" "" "0000283054" "0" "10" "15" "48726813" "48726813" "subst" "0.003415" "02329" "FBN1_000004" "g.48726813G>A" "" "" "" "FBN1(NM_000138.4):c.6594C>T (p.P2198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48434616G>A" "" "benign" "" "0000283055" "0" "10" "15" "48726774" "48726774" "subst" "0.000178881" "02329" "FBN1_000114" "g.48726774C>T" "" "" "" "FBN1(NM_000138.4):c.6616+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48434577C>T" "" "benign" "" "0000283056" "0" "10" "15" "48725121" "48725121" "subst" "0.00107006" "02329" "FBN1_000112" "g.48725121T>G" "" "" "" "FBN1(NM_000138.4):c.6681A>C (p.S2227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48432924T>G" "" "benign" "" "0000283057" "0" "10" "15" "48725102" "48725102" "subst" "0.000785223" "02329" "FBN1_000060" "g.48725102C>T" "" "" "" "FBN1(NM_000138.4):c.6700G>A (p.V2234M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48432905C>T" "" "benign" "" "0000283058" "0" "10" "15" "48725097" "48725097" "subst" "0.000170876" "02329" "FBN1_000111" "g.48725097T>G" "" "" "" "FBN1(NM_000138.4):c.6705A>C (p.G2235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48432900T>G" "" "benign" "" "0000283059" "0" "90" "15" "48723000" "48723000" "subst" "0" "02329" "FBN1_000109" "g.48723000C>T" "" "" "" "FBN1(NM_000138.4):c.6740-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48430803C>T" "" "pathogenic" "" "0000283060" "0" "10" "15" "48720652" "48720652" "subst" "0.029553" "02329" "FBN1_000058" "g.48720652C>T" "" "" "" "FBN1(NM_000138.4):c.6888G>A (p.Q2296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48428455C>T" "" "benign" "" "0000283061" "0" "10" "15" "48720526" "48720526" "subst" "0.747237" "02329" "FBN1_000057" "g.48720526G>C" "" "" "" "FBN1(NM_000138.4):c.6997+17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48428329G>C" "" "benign" "" "0000283062" "0" "30" "15" "48720524" "48720524" "subst" "0.00000407242" "02329" "FBN1_000105" "g.48720524C>A" "" "" "" "FBN1(NM_000138.4):c.6997+19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48428327C>A" "" "likely benign" "" "0000283063" "0" "50" "15" "48717971" "48717971" "subst" "0" "02329" "FBN1_000103" "g.48717971C>A" "" "" "" "FBN1(NM_000138.4):c.7295G>T (p.G2432V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48425774C>A" "" "VUS" "" "0000283064" "0" "90" "15" "48717944" "48717944" "del" "0" "02329" "FBN1_000102" "g.48717944del" "" "" "" "FBN1(NM_000138.4):c.7323delC (p.C2442Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48425747del" "" "pathogenic" "" "0000283065" "0" "50" "15" "48717673" "48717673" "subst" "0.0000935598" "02329" "FBN1_000101" "g.48717673T>C" "" "" "" "FBN1(NM_000138.4):c.7346A>G (p.N2449S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48425476T>C" "" "VUS" "" "0000283066" "0" "10" "15" "48826427" "48826428" "del" "0" "02329" "FBN1_000190" "g.48826427_48826428del" "" "" "" "FBN1(NM_000138.4):c.737-21_737-20delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48534230_48534231del" "" "benign" "" "0000283067" "0" "50" "15" "48717640" "48717640" "subst" "0.0000650264" "02329" "FBN1_000100" "g.48717640T>C" "" "" "" "FBN1(NM_000138.4):c.7379A>G (p.K2460R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48425443T>C" "" "VUS" "" "0000283068" "0" "30" "15" "48714278" "48714278" "subst" "0" "02329" "FBN1_000098" "g.48714278G>A" "" "" "" "FBN1(NM_000138.4):c.7454-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48422081G>A" "" "likely benign" "" "0000283069" "0" "90" "15" "48714192" "48714192" "subst" "0" "02329" "FBN1_000096" "g.48714192G>T" "" "" "" "FBN1(NM_000138.4):c.7527C>A (p.C2509*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48421995G>T" "" "pathogenic" "" "0000283070" "0" "30" "15" "48714189" "48714189" "subst" "0.00000406431" "02329" "FBN1_000095" "g.48714189T>C" "" "" "" "FBN1(NM_000138.4):c.7530A>G (p.K2510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48421992T>C" "" "likely benign" "" "0000283071" "0" "30" "15" "48714159" "48714159" "subst" "0.0000934997" "02329" "FBN1_000094" "g.48714159C>T" "" "" "" "FBN1(NM_000138.4):c.7560G>A (p.T2520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48421962C>T" "" "likely benign" "" "0000283072" "0" "30" "15" "48826377" "48826377" "subst" "0.0000447035" "02329" "FBN1_000189" "g.48826377G>A" "" "" "" "FBN1(NM_000138.4):c.762C>T (p.P254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48534180G>A" "" "likely benign" "" "0000283073" "0" "90" "15" "48826367" "48826367" "subst" "0" "02329" "FBN1_000188" "g.48826367G>A" "" "" "" "FBN1(NM_000138.4):c.772C>T (p.Q258*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48534170G>A" "" "pathogenic" "" "0000283074" "0" "10" "15" "48712876" "48712876" "subst" "0.0262395" "02329" "FBN1_000092" "g.48712876T>G" "" "" "" "FBN1(NM_000138.4):c.7819+8A>C (, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48420679T>G" "" "benign" "" "0000283075" "0" "30" "15" "48936888" "48936888" "subst" "0.000471074" "02329" "FBN1_000201" "g.48936888C>T" "" "" "" "FBN1(NM_000138.4):c.79G>A (p.A27T, p.(Ala27Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48644691C>T" "" "likely benign" "" "0000283076" "0" "50" "15" "48704837" "48704837" "subst" "0" "02329" "FBN1_000090" "g.48704837T>C" "" "" "" "FBN1(NM_000138.4):c.8155A>G (p.K2719E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48412640T>C" "" "VUS" "" "0000283077" "0" "70" "15" "48704804" "48704804" "subst" "0" "02329" "FBN1_000089" "g.48704804G>A" "" "" "" "FBN1(NM_000138.4):c.8188C>T (p.R2730W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48412607G>A" "" "likely pathogenic" "" "0000283078" "0" "30" "15" "48704774" "48704774" "subst" "0.00000812374" "02329" "FBN1_000088" "g.48704774T>C" "" "" "" "FBN1(NM_000138.4):c.8218A>G (p.N2740D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48412577T>C" "" "likely benign" "" "0000283079" "0" "30" "15" "48703571" "48703571" "subst" "0.000130317" "02329" "FBN1_000086" "g.48703571C>T" "" "" "" "FBN1(NM_000138.4):c.8232G>A (p.Q2744=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48411374C>T" "" "likely benign" "" "0000283080" "0" "10" "15" "48703520" "48703520" "subst" "0.000674523" "02329" "FBN1_000085" "g.48703520T>A" "" "" "" "FBN1(NM_000138.4):c.8283A>T (p.T2761=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48411323T>A" "" "benign" "" "0000283082" "0" "50" "15" "48818416" "48818416" "subst" "0.00000406204" "02329" "FBN1_000187" "g.48818416T>C" "" "" "" "FBN1(NM_000138.4):c.899A>G (p.E300G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48526219T>C" "" "VUS" "" "0000283855" "0" "70" "15" "48787352" "48787352" "subst" "0" "02326" "FBN1_000164" "g.48787352G>A" "" "" "" "FBN1(NM_000138.4):c.2645C>T (p.A882V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48495155G>A" "" "likely pathogenic" "" "0000283856" "0" "30" "15" "48782284" "48782284" "subst" "0.00117" "02326" "FBN1_000160" "g.48782284G>A" "" "" "" "FBN1(NM_000138.4):c.2855-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48490087G>A" "" "likely benign" "" "0000283857" "0" "30" "15" "48780353" "48780353" "subst" "0.00803655" "02326" "FBN1_000156" "g.48780353G>A" "" "" "" "FBN1(NM_000138.4):c.3294C>T (p.D1098=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48488156G>A" "" "likely benign" "" "0000283858" "0" "30" "15" "48779352" "48779352" "subst" "0.00123452" "02326" "FBN1_000147" "g.48779352C>T" "" "" "" "FBN1(NM_000138.4):c.3509G>A (p.R1170H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48487155C>T" "" "likely benign" "" "0000283859" "0" "10" "15" "48752429" "48752429" "subst" "0.00161988" "02326" "FBN1_000131" "g.48752429C>T" "" "" "" "FBN1(NM_000138.4):c.5296+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48460232C>T" "" "benign" "" "0000283860" "0" "30" "15" "48752435" "48752435" "subst" "0.00000407814" "02326" "FBN1_000132" "g.48752435T>A" "" "" "" "FBN1(NM_000138.4):c.5296+8A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48460238T>A" "" "likely benign" "" "0000283861" "0" "10" "15" "48748913" "48748913" "subst" "0.0048432" "02326" "FBN1_000018" "g.48748913C>T" "" "" "" "FBN1(NM_000138.4):c.5343G>A (p.V1781=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48456716C>T" "" "benign" "" "0000283862" "0" "10" "15" "48737794" "48737794" "subst" "0" "02326" "FBN1_000127" "g.48737794C>T" "" "" "" "FBN1(NM_000138.4):c.5789-93G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48445597C>T" "" "benign" "" "0000283863" "0" "50" "15" "48725143" "48725143" "subst" "0.00000813862" "02326" "FBN1_000113" "g.48725143C>T" "" "" "" "FBN1(NM_000138.4):c.6659G>A (p.R2220Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48432946C>T" "" "VUS" "" "0000283864" "0" "30" "15" "48725097" "48725097" "subst" "0.000170876" "02326" "FBN1_000111" "g.48725097T>G" "" "" "" "FBN1(NM_000138.4):c.6705A>C (p.G2235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48432900T>G" "" "likely benign" "" "0000283865" "0" "30" "15" "48722907" "48722907" "subst" "0.00252386" "02326" "FBN1_000108" "g.48722907G>A" "" "" "" "FBN1(NM_000138.4):c.6832C>T (p.P2278S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48430710G>A" "" "likely benign" "" "0000283866" "0" "70" "15" "48720624" "48720624" "subst" "0" "02326" "FBN1_000107" "g.48720624G>A" "" "" "" "FBN1(NM_000138.4):c.6916C>T (p.R2306C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48428427G>A" "" "likely pathogenic" "" "0000283867" "0" "90" "15" "48714220" "48714220" "subst" "0" "02326" "FBN1_000097" "g.48714220C>T" "" "" "" "FBN1(NM_000138.4):c.7499G>A (p.C2500Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48422023C>T" "" "pathogenic" "" "0000283868" "0" "30" "15" "48714189" "48714189" "subst" "0.00000406431" "02326" "FBN1_000095" "g.48714189T>C" "" "" "" "FBN1(NM_000138.4):c.7530A>G (p.K2510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48421992T>C" "" "likely benign" "" "0000283869" "0" "10" "15" "48712876" "48712876" "subst" "0.0262395" "02326" "FBN1_000092" "g.48712876T>G" "" "" "" "FBN1(NM_000138.4):c.7819+8A>C (, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48420679T>G" "" "benign" "" "0000283870" "0" "30" "15" "48703571" "48703571" "subst" "0.000130317" "02326" "FBN1_000086" "g.48703571C>T" "" "" "" "FBN1(NM_000138.4):c.8232G>A (p.Q2744=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48411374C>T" "" "likely benign" "" "0000283871" "0" "30" "15" "48703571" "48703571" "subst" "0.0000122172" "02326" "FBN1_000087" "g.48703571C>G" "" "" "" "FBN1(NM_000138.4):c.8232G>C (p.Q2744H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48411374C>G" "" "likely benign" "" "0000287206" "0" "30" "15" "48812895" "48812895" "subst" "0" "01943" "FBN1_000183" "g.48812895C>T" "" "" "" "FBN1(NM_000138.4):c.1108G>A (p.V370I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48520698C>T" "" "likely benign" "" "0000287207" "0" "30" "15" "48808507" "48808507" "subst" "0.00000407518" "01943" "FBN1_000181" "g.48808507T>C" "" "" "" "FBN1(NM_000138.4):c.1200A>G (p.E400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48516310T>C" "" "likely benign" "" "0000287208" "0" "50" "15" "48808418" "48808418" "subst" "0.0000203163" "01943" "FBN1_000180" "g.48808418G>A" "" "" "" "FBN1(NM_000138.4):c.1289C>T (p.P430L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48516221G>A" "" "VUS" "" "0000287209" "0" "50" "15" "48807682" "48807682" "subst" "0.0000162617" "01943" "FBN1_000178" "g.48807682C>T" "" "" "" "FBN1(NM_000138.4):c.1370G>A (p.R457H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48515485C>T" "" "VUS" "" "0000287211" "0" "30" "15" "48805804" "48805804" "subst" "0.0000203211" "01943" "FBN1_000176" "g.48805804C>T" "" "" "" "FBN1(NM_000138.4):c.1530G>A (p.S510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48513607C>T" "" "likely benign" "" "0000287212" "0" "30" "15" "48800870" "48800870" "subst" "0.00343081" "01943" "FBN1_000037" "g.48800870G>A" "" "" "" "FBN1(NM_000138.4):c.1746C>T (p.C582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48508673G>A" "" "likely benign" "" "0000287213" "0" "30" "15" "48800775" "48800775" "subst" "0.0000365699" "01943" "FBN1_000173" "g.48800775G>A" "" "" "" "FBN1(NM_000138.4):c.1837+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48508578G>A" "" "likely benign" "" "0000287214" "0" "30" "15" "48797337" "48797337" "subst" "0.00000812361" "01943" "FBN1_000172" "g.48797337G>A" "" "" "" "FBN1(NM_000138.4):c.1845C>T (p.N615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48505140G>A" "" "likely benign" "" "0000287215" "0" "10" "15" "48797192" "48797192" "subst" "0.00597729" "01943" "FBN1_000171" "g.48797192C>T" "" "" "" "FBN1(NM_000138.4):c.1960+30G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48504995C>T" "" "benign" "" "0000287216" "0" "50" "15" "48787771" "48787771" "subst" "0.000032546" "01943" "FBN1_000168" "g.48787771C>T" "" "" "" "FBN1(NM_000138.4):c.2434G>A (p.E812K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48495574C>T" "" "VUS" "" "0000287217" "0" "30" "15" "48903040" "48903040" "subst" "0" "01943" "FBN1_000198" "g.48903040G>C" "" "" "" "FBN1(NM_000138.4):c.248-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48610843G>C" "" "likely benign" "" "0000287218" "0" "30" "15" "48787360" "48787360" "subst" "0.0000649989" "01943" "FBN1_000165" "g.48787360G>A" "" "" "" "FBN1(NM_000138.4):c.2637C>T (p.L879=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48495163G>A" "" "likely benign" "" "0000287219" "0" "30" "15" "48786418" "48786418" "subst" "0.0000162633" "01943" "FBN1_000162" "g.48786418T>C" "" "" "" "FBN1(NM_000138.4):c.2711A>G (p.K904R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48494221T>C" "" "likely benign" "" "0000287220" "0" "30" "15" "48782235" "48782235" "subst" "0.000328945" "01943" "FBN1_000159" "g.48782235C>T" "" "" "" "FBN1(NM_000138.4):c.2895G>A (p.E965=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48490038C>T" "" "likely benign" "" "0000287221" "0" "30" "15" "48902965" "48902965" "subst" "0.00377317" "01943" "FBN1_000033" "g.48902965G>A" "" "" "" "FBN1(NM_000138.4):c.306C>T (p.C102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48610768G>A" "" "likely benign" "" "0000287222" "0" "50" "15" "48780628" "48780628" "subst" "0.0000162429" "01943" "FBN1_000157" "g.48780628C>T" "" "" "" "FBN1(NM_000138.4):c.3145G>A (p.G1049S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48488431C>T" "" "VUS" "" "0000287223" "0" "30" "15" "48779590" "48779590" "subst" "0" "01943" "FBN1_000155" "g.48779590C>T" "" "" "" "FBN1(NM_000138.4):c.3382G>A (p.V1128I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48487393C>T" "" "likely benign" "" "0000287224" "0" "50" "15" "48779550" "48779550" "subst" "0.000889318" "01943" "FBN1_000154" "g.48779550G>A" "" "" "" "FBN1(NM_000138.4):c.3422C>T (p.P1141L, p.(Pro1141Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48487353G>A" "" "VUS" "" "0000287225" "0" "30" "15" "48779519" "48779519" "subst" "0.000032487" "01943" "FBN1_000153" "g.48779519G>A" "" "" "" "FBN1(NM_000138.4):c.3453C>T (p.S1151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48487322G>A" "" "likely benign" "" "0000287226" "0" "50" "15" "48779517" "48779517" "subst" "0.0000284269" "01943" "FBN1_000152" "g.48779517G>A" "" "" "" "FBN1(NM_000138.4):c.3455C>T (p.A1152V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48487320G>A" "" "VUS" "" "0000287227" "0" "50" "15" "48779514" "48779514" "subst" "0" "01943" "FBN1_000151" "g.48779514C>A" "" "" "" "FBN1(NM_000138.4):c.3458G>T (p.C1153F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48487317C>A" "" "VUS" "" "0000287228" "0" "10" "15" "48779402" "48779402" "subst" "0.168696" "01943" "FBN1_000052" "g.48779402C>T" "" "" "" "FBN1(NM_000138.4):c.3464-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48487205C>T" "" "benign" "" "0000287229" "0" "30" "15" "48779358" "48779358" "subst" "0.0000690355" "01943" "FBN1_000148" "g.48779358T>C" "" "" "" "FBN1(NM_000138.4):c.3503A>G (p.N1168S, p.(Asn1168Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48487161T>C" "" "likely benign" "" "0000287230" "0" "30" "15" "48779352" "48779352" "subst" "0.00123452" "01943" "FBN1_000147" "g.48779352C>T" "" "" "" "FBN1(NM_000138.4):c.3509G>A (p.R1170H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48487155C>T" "" "likely benign" "" "0000287231" "0" "50" "15" "48764778" "48764778" "subst" "0.000581065" "01943" "FBN1_000143" "g.48764778C>T" "" "" "" "FBN1(NM_000138.4):c.4306G>A (p.V1436M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48472581C>T" "" "VUS" "" "0000287232" "0" "50" "15" "48762849" "48762849" "subst" "0.000276387" "01943" "FBN1_000142" "g.48762849T>C" "" "" "" "FBN1(NM_000138.4):c.4441A>G (p.S1481G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48470652T>C" "" "VUS" "" "0000287233" "0" "50" "15" "48760680" "48760680" "subst" "0" "01943" "FBN1_000138" "g.48760680T>C" "" "" "" "FBN1(NM_000138.4):c.4511A>G (p.N1504S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48468483T>C" "" "VUS" "" "0000287234" "0" "50" "15" "48760623" "48760623" "subst" "0.0000162697" "01943" "FBN1_000137" "g.48760623C>T" "" "" "" "FBN1(NM_000138.4):c.4568G>A (p.R1523Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48468426C>T" "" "VUS" "" "0000287235" "0" "90" "15" "48757891" "48757891" "subst" "0" "01943" "FBN1_000136" "g.48757891C>T" "" "" "" "FBN1(NM_000138.4):c.4817-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48465694C>T" "" "pathogenic" "" "0000287236" "0" "30" "15" "48757802" "48757802" "subst" "0.00341823" "01943" "FBN1_000021" "g.48757802G>C" "" "" "" "FBN1(NM_000138.4):c.4905C>G (p.T1635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48465605G>C" "" "likely benign" "" "0000287237" "0" "30" "15" "48888508" "48888508" "subst" "0.000576903" "01943" "FBN1_000193" "g.48888508G>A" "" "" "" "FBN1(NM_000138.4):c.510C>T (p.Y170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48596311G>A" "" "likely benign" "" "0000287238" "0" "90" "15" "48752496" "48752497" "del" "0" "01943" "FBN1_000133" "g.48752496_48752497del" "" "" "" "FBN1(NM_000138.4):c.5244_5245delTG (p.C1748Wfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48460299_48460300del" "" "pathogenic" "" "0000287239" "0" "30" "15" "48748916" "48748916" "subst" "0.00000813359" "01943" "FBN1_000130" "g.48748916T>G" "" "" "" "FBN1(NM_000138.4):c.5340A>C (p.G1780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48456719T>G" "" "likely benign" "" "0000287240" "0" "10" "15" "48748913" "48748913" "subst" "0.0048432" "01943" "FBN1_000018" "g.48748913C>T" "" "" "" "FBN1(NM_000138.4):c.5343G>A (p.V1781=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48456716C>T" "" "benign" "" "0000287241" "0" "30" "15" "48737685" "48737685" "subst" "0.0000122141" "01943" "FBN1_000126" "g.48737685T>G" "" "" "" "FBN1(NM_000138.4):c.5805A>C (p.A1935=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48445488T>G" "" "likely benign" "" "0000287242" "0" "50" "15" "48829954" "48829954" "subst" "0.00000812262" "01943" "FBN1_000191" "g.48829954C>T" "" "" "" "FBN1(NM_000138.4):c.590G>A (p.G197E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48537757C>T" "" "VUS" "" "0000287243" "0" "50" "15" "48936908" "48936908" "subst" "0.00015437" "01943" "FBN1_000202" "g.48936908T>C" "" "" "" "FBN1(NM_000138.4):c.59A>G (p.Y20C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48644711T>C" "" "VUS" "" "0000287244" "0" "50" "15" "48734026" "48734026" "subst" "0.0000163026" "01943" "FBN1_000124" "g.48734026C>T" "" "" "" "FBN1(NM_000138.4):c.6055G>A (p.E2019K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48441829C>T" "" "VUS" "" "0000287245" "0" "50" "15" "48729989" "48729989" "subst" "0" "01943" "FBN1_000122" "g.48729989C>T" "" "" "" "FBN1(NM_000138.4):c.6289G>A (p.E2097K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48437792C>T" "" "VUS" "" "0000287246" "0" "50" "15" "48729976" "48729976" "subst" "0.000211835" "01943" "FBN1_000121" "g.48729976G>A" "" "" "" "FBN1(NM_000138.4):c.6302C>T (p.T2101M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48437779G>A" "" "VUS" "" "0000287247" "0" "10" "15" "48729261" "48729261" "subst" "0.00111175" "01943" "FBN1_000120" "g.48729261G>A" "" "" "" "FBN1(NM_000138.4):c.6393C>T (p.C2131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48437064G>A" "" "benign" "" "0000287248" "0" "70" "15" "48729200" "48729200" "subst" "0.00000406845" "01943" "FBN1_000117" "g.48729200C>T" "" "" "" "FBN1(NM_000138.4):c.6454G>A (p.E2152K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48437003C>T" "" "likely pathogenic" "" "0000287249" "0" "30" "15" "48726813" "48726813" "subst" "0.003415" "01943" "FBN1_000004" "g.48726813G>A" "" "" "" "FBN1(NM_000138.4):c.6594C>T (p.P2198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48434616G>A" "" "likely benign" "" "0000287250" "0" "30" "15" "48725121" "48725121" "subst" "0.00107006" "01943" "FBN1_000112" "g.48725121T>G" "" "" "" "FBN1(NM_000138.4):c.6681A>C (p.S2227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48432924T>G" "" "likely benign" "" "0000287251" "0" "30" "15" "48725102" "48725102" "subst" "0.000785223" "01943" "FBN1_000060" "g.48725102C>T" "" "" "" "FBN1(NM_000138.4):c.6700G>A (p.V2234M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48432905C>T" "" "likely benign" "" "0000287252" "0" "30" "15" "48725097" "48725097" "subst" "0.000170876" "01943" "FBN1_000111" "g.48725097T>G" "" "" "" "FBN1(NM_000138.4):c.6705A>C (p.G2235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48432900T>G" "" "likely benign" "" "0000287253" "0" "50" "15" "48725078" "48725078" "subst" "0.0000122088" "01943" "FBN1_000110" "g.48725078G>A" "" "" "" "FBN1(NM_000138.4):c.6724C>T (p.R2242C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48432881G>A" "" "VUS" "" "0000287254" "0" "30" "15" "48720553" "48720553" "subst" "0.000654546" "01943" "FBN1_000106" "g.48720553G>C" "" "" "" "FBN1(NM_000138.4):c.6987C>G (p.D2329E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48428356G>C" "" "likely benign" "" "0000287255" "0" "10" "15" "48720526" "48720526" "subst" "0.747237" "01943" "FBN1_000057" "g.48720526G>C" "" "" "" "FBN1(NM_000138.4):c.6997+17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48428329G>C" "" "benign" "" "0000287256" "0" "90" "15" "48719971" "48719971" "subst" "0" "01943" "FBN1_000104" "g.48719971C>G" "" "" "" "FBN1(NM_000138.4):c.6998-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48427774C>G" "" "pathogenic" "" "0000287257" "0" "30" "15" "48719757" "48719757" "subst" "0.0000773458" "01943" "FBN1_000056" "g.48719757G>C" "" "" "" "FBN1(NM_000138.4):c.7204+7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48427560G>C" "" "likely benign" "" "0000287258" "0" "50" "15" "48717640" "48717640" "subst" "0.0000650264" "01943" "FBN1_000100" "g.48717640T>C" "" "" "" "FBN1(NM_000138.4):c.7379A>G (p.K2460R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48425443T>C" "" "VUS" "" "0000287259" "0" "50" "15" "48717607" "48717607" "subst" "0.0000203148" "01943" "FBN1_000099" "g.48717607G>C" "" "" "" "FBN1(NM_000138.4):c.7412C>G (p.P2471R, p.(Pro2471Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48425410G>C" "" "VUS" "" "0000287260" "0" "30" "15" "48714159" "48714159" "subst" "0.0000934997" "01943" "FBN1_000094" "g.48714159C>T" "" "" "" "FBN1(NM_000138.4):c.7560G>A (p.T2520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48421962C>T" "" "likely benign" "" "0000287261" "0" "30" "15" "48936888" "48936888" "subst" "0.000471074" "01943" "FBN1_000201" "g.48936888C>T" "" "" "" "FBN1(NM_000138.4):c.79G>A (p.A27T, p.(Ala27Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48644691C>T" "" "likely benign" "" "0000287262" "0" "30" "15" "48703571" "48703571" "subst" "0.000130317" "01943" "FBN1_000086" "g.48703571C>T" "" "" "" "FBN1(NM_000138.4):c.8232G>A (p.Q2744=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48411374C>T" "" "likely benign" "" "0000287263" "0" "30" "15" "48703520" "48703520" "subst" "0.000674523" "01943" "FBN1_000085" "g.48703520T>A" "" "" "" "FBN1(NM_000138.4):c.8283A>T (p.T2761=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48411323T>A" "" "likely benign" "" "0000287264" "0" "30" "15" "48703495" "48703495" "subst" "0" "01943" "FBN1_000084" "g.48703495G>T" "" "" "" "FBN1(NM_000138.4):c.8308C>A (p.H2770N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48411298G>T" "" "likely benign" "" "0000324087" "0" "50" "15" "48713770" "48713770" "subst" "0.000016361" "01804" "FBN1_000093" "g.48713770C>T" "" "" "" "FBN1(NM_000138.4):c.7684G>A (p.(Gly2562Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48421573C>T" "" "VUS" "" "0000324088" "0" "50" "15" "48779358" "48779358" "subst" "0.0000690355" "01804" "FBN1_000148" "g.48779358T>C" "" "" "" "FBN1(NM_000138.4):c.3503A>G (p.N1168S, p.(Asn1168Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48487161T>C" "" "VUS" "" "0000324089" "0" "50" "15" "48818329" "48818329" "subst" "0.00155168" "01804" "FBN1_000186" "g.48818329A>G" "" "" "" "FBN1(NM_000138.4):c.986T>C (p.(Ile329Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48526132A>G" "" "VUS" "" "0000324090" "0" "50" "15" "48888507" "48888507" "subst" "0" "01804" "FBN1_000192" "g.48888507C>T" "" "" "" "FBN1(NM_000138.4):c.511G>A (p.(Gly171Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48596310C>T" "" "VUS" "" "0000324091" "0" "50" "15" "48902987" "48902987" "subst" "0.0000121875" "01804" "FBN1_000196" "g.48902987G>A" "" "" "" "FBN1(NM_000138.4):c.284C>T (p.(Ser95Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48610790G>A" "" "VUS" "" "0000341545" "0" "50" "15" "48796068" "48796068" "subst" "0" "02327" "FBN1_000210" "g.48796068C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48503871C>T" "" "VUS" "" "0000345835" "0" "70" "15" "48736768" "48736768" "subst" "0" "02327" "FBN1_000206" "g.48736768C>T" "" "" "" "FBN1(NM_000138.4):c.6007G>A (p.G2003R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48444571C>T" "" "likely pathogenic" "" "0000346011" "0" "50" "15" "48812976" "48812976" "subst" "0.00018693" "02327" "FBN1_000211" "g.48812976C>T" "" "" "" "FBN1(NM_000138.4):c.1027G>A (p.G343R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48520779C>T" "" "VUS" "" "0000346836" "0" "50" "15" "48782110" "48782110" "subst" "0" "02327" "FBN1_000209" "g.48782110A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48489913A>C" "" "VUS" "" "0000349221" "0" "50" "15" "48902987" "48902987" "subst" "0.0000121875" "02327" "FBN1_000196" "g.48902987G>A" "" "" "" "FBN1(NM_000138.4):c.284C>T (p.(Ser95Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48610790G>A" "" "VUS" "" "0000350399" "0" "50" "15" "48726893" "48726893" "subst" "0" "02327" "FBN1_000205" "g.48726893C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48434696C>T" "" "VUS" "" "0000351239" "0" "90" "15" "48756220" "48756220" "subst" "0" "02327" "FBN1_000207" "g.48756220T>C" "" "" "" "FBN1(NM_000138.4):c.4943-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48464023T>C" "" "pathogenic" "" "0000351240" "0" "50" "15" "48764849" "48764849" "subst" "0" "02327" "FBN1_000208" "g.48764849A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48472652A>T" "" "VUS" "" "0000351494" "0" "90" "15" "48812913" "48812913" "subst" "0" "01807" "FBN1_000204" "g.48812913G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48520716G>A" "" "pathogenic" "" "0000351713" "0" "90" "15" "48703288" "48703294" "del" "0" "01741" "FBN1_000212" "g.48703288_48703294del" "" "" "" "8509_8515delTATAAAA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.48411091_48411097del" "" "pathogenic" "" "0000369285" "0" "30" "15" "48808532" "48808532" "subst" "0.0000040816" "02497" "FBN1_000029" "g.48808532G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48516335G>A" "" "likely benign" "" "0000369297" "11" "30" "15" "48808532" "48808532" "subst" "0.0000040816" "02497" "FBN1_000029" "g.48808532G>A" "" "" "" "" "" "Germline" "no" "" "0" "" "" "g.48516335G>A" "" "likely benign" "" "0000405589" "11" "90" "15" "48829826" "48829826" "subst" "0" "00154" "FBN1_000074" "g.48829826G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48537629G>A" "" "pathogenic" "" "0000405592" "11" "90" "15" "48776105" "48776105" "subst" "0" "01449" "FBN1_000076" "g.48776105C>A" "" "yes" "" "" "" "Germline" "" "" "0" "" "" "g.48483908C>A" "" "pathogenic" "" "0000406046" "0" "90" "15" "48737585" "48737585" "del" "0" "01807" "FBN1_000216" "g.48737585del" "" "" "" "5905delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.48445388del" "" "pathogenic" "" "0000438993" "0" "70" "15" "48789463" "48789463" "subst" "0" "01741" "FBN1_000217" "g.48789463C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.48497266C>A" "" "likely pathogenic" "" "0000439091" "0" "90" "15" "48707732" "48707732" "subst" "0" "01164" "FBN1_000218" "g.48707732C>T" "" "" "" "" "ACMG grading: PVS1,PM2,PP5; reported in Liu 1997. Genet Test 1: 237" "Germline" "" "" "0" "" "" "g.48415535C>T" "" "pathogenic" "ACMG" "0000459067" "0" "50" "15" "48936917" "48936917" "subst" "0" "03211" "FBN1_000219" "g.48936917A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48644720A>G" "" "VUS" "ACMG" "0000459080" "0" "50" "15" "48936917" "48936917" "subst" "0" "03211" "FBN1_000219" "g.48936917A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48644720A>G" "present" "VUS" "ACMG" "0000459081" "0" "50" "15" "48936911" "48936911" "subst" "0" "03211" "FBN1_000854" "g.48936911G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48644714G>A" "present" "VUS" "ACMG" "0000459082" "0" "50" "15" "48936908" "48936908" "subst" "0.00015437" "03211" "FBN1_000202" "g.48936908T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48644711T>C" "present" "VUS" "ACMG" "0000459083" "0" "30" "15" "48936888" "48936888" "subst" "0.000471074" "03211" "FBN1_000201" "g.48936888C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48644691C>T" "present" "likely benign" "ACMG" "0000459084" "0" "50" "15" "48936884" "48936884" "subst" "0.0000487302" "03211" "FBN1_000853" "g.48936884T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48644687T>C" "present" "VUS" "ACMG" "0000459085" "0" "30" "15" "48936843" "48936843" "subst" "0.0000324881" "03211" "FBN1_000852" "g.48936843C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48644646C>G" "present" "likely benign" "ACMG" "0000459086" "0" "50" "15" "48936830" "48936830" "subst" "0" "03211" "FBN1_000851" "g.48936830C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48644633C>T" "present" "VUS" "ACMG" "0000459087" "0" "50" "15" "48936828" "48936828" "subst" "0.00000812275" "03211" "FBN1_000850" "g.48936828C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48644631C>T" "present" "VUS" "ACMG" "0000459088" "0" "50" "15" "48936818" "48936818" "subst" "0" "03211" "FBN1_000849" "g.48936818T>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48644621T>A" "present" "VUS" "ACMG" "0000459089" "0" "50" "15" "48936814" "48936814" "subst" "0" "03211" "FBN1_000848" "g.48936814G>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48644617G>T" "present" "VUS" "ACMG" "0000459090" "0" "70" "15" "48905270" "48905270" "subst" "0" "03211" "FBN1_000847" "g.48905270G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48613073G>A" "present" "likely pathogenic" "ACMG" "0000459091" "0" "30" "15" "48905269" "48905269" "subst" "0.0000532529" "03211" "FBN1_000846" "g.48905269C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48613072C>T" "present" "likely benign" "ACMG" "0000459092" "0" "70" "15" "48905266" "48905266" "subst" "0.00000409561" "03211" "FBN1_000845" "g.48905266T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48613069T>C" "present" "likely pathogenic" "ACMG" "0000459093" "0" "70" "15" "48905252" "48905252" "subst" "0" "03211" "FBN1_000844" "g.48905252A>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48613055A>T" "present" "likely pathogenic" "ACMG" "0000459094" "0" "70" "15" "48905242" "48905242" "subst" "0" "03211" "FBN1_000843" "g.48905242C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48613045C>G" "present" "likely pathogenic" "ACMG" "0000459095" "0" "50" "15" "48905231" "48905231" "subst" "0.00000409903" "03211" "FBN1_000842" "g.48905231G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48613034G>A" "present" "VUS" "ACMG" "0000459096" "0" "30" "15" "48905225" "48905225" "subst" "0" "03211" "FBN1_000841" "g.48905225C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48613028C>T" "present" "likely benign" "ACMG" "0000459097" "0" "70" "15" "48905215" "48905215" "subst" "0" "03211" "FBN1_000840" "g.48905215C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48613018C>T" "present" "likely pathogenic" "ACMG" "0000459098" "0" "50" "15" "48903011" "48903011" "subst" "0" "03211" "FBN1_000839" "g.48903011T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48610814T>C" "present" "VUS" "ACMG" "0000459099" "0" "70" "15" "48903005" "48903005" "subst" "0" "03211" "FBN1_000837" "g.48903005C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48610808C>T" "present" "likely pathogenic" "ACMG" "0000459100" "0" "70" "15" "48903005" "48903005" "subst" "0" "03211" "FBN1_000838" "g.48903005C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48610808C>G" "present" "likely pathogenic" "ACMG" "0000459101" "0" "70" "15" "48902990" "48902990" "subst" "0" "03211" "FBN1_000836" "g.48902990C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48610793C>A" "present" "likely pathogenic" "ACMG" "0000459102" "0" "50" "15" "48902984" "48902984" "subst" "0" "03211" "FBN1_000835" "g.48902984C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48610787C>G" "present" "VUS" "ACMG" "0000459103" "0" "70" "15" "48902972" "48902972" "subst" "0" "03211" "FBN1_000833" "g.48902972C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48610775C>T" "present" "likely pathogenic" "ACMG" "0000459104" "0" "70" "15" "48902972" "48902972" "subst" "0" "03211" "FBN1_000834" "g.48902972C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48610775C>A" "present" "likely pathogenic" "ACMG" "0000459105" "0" "70" "15" "48902966" "48902966" "subst" "0" "03211" "FBN1_000832" "g.48902966C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48610769C>A" "present" "likely pathogenic" "ACMG" "0000459106" "0" "70" "15" "48902933" "48902933" "subst" "0" "03211" "FBN1_000831" "g.48902933G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48610736G>C" "present" "likely pathogenic" "ACMG" "0000459107" "0" "50" "15" "48892425" "48892425" "subst" "0.0000366814" "03211" "FBN1_000830" "g.48892425T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48600228T>C" "present" "VUS" "ACMG" "0000459108" "0" "90" "15" "48892414" "48892414" "subst" "0" "03211" "FBN1_000829" "g.48892414G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48600217G>A" "present" "pathogenic" "ACMG" "0000459109" "0" "90" "15" "48892410" "48892410" "subst" "0" "03211" "FBN1_000828" "g.48892410C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48600213C>T" "present" "pathogenic" "ACMG" "0000459110" "0" "30" "15" "48892408" "48892408" "subst" "0.0000162823" "03211" "FBN1_000827" "g.48892408T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48600211T>C" "present" "likely benign" "ACMG" "0000459111" "0" "50" "15" "48892399" "48892399" "subst" "0" "03211" "FBN1_000826" "g.48892399C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48600202C>G" "present" "VUS" "ACMG" "0000459112" "0" "70" "15" "48892393" "48892393" "subst" "0" "03211" "FBN1_000075" "g.48892393A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48600196A>C" "present" "likely pathogenic" "ACMG" "0000459113" "0" "50" "15" "48892366" "48892366" "subst" "0" "03211" "FBN1_000825" "g.48892366T>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48600169T>G" "present" "VUS" "ACMG" "0000459114" "0" "50" "15" "48892363" "48892363" "subst" "0" "03211" "FBN1_000824" "g.48892363C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48600166C>G" "present" "VUS" "ACMG" "0000459115" "0" "70" "15" "48892344" "48892344" "subst" "0" "03211" "FBN1_000823" "g.48892344C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48600147C>T" "present" "likely pathogenic" "ACMG" "0000459116" "0" "70" "15" "48888564" "48888564" "subst" "0" "03211" "FBN1_000822" "g.48888564T>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48596367T>A" "present" "likely pathogenic" "ACMG" "0000459117" "0" "70" "15" "48888557" "48888557" "subst" "0" "03211" "FBN1_000821" "g.48888557C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48596360C>G" "present" "likely pathogenic" "ACMG" "0000459118" "0" "50" "15" "48888552" "48888552" "subst" "0" "03211" "FBN1_000820" "g.48888552T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48596355T>C" "present" "VUS" "ACMG" "0000459119" "0" "70" "15" "48888540" "48888540" "subst" "0" "03211" "FBN1_000819" "g.48888540A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48596343A>G" "present" "likely pathogenic" "ACMG" "0000459120" "0" "50" "15" "48888534" "48888534" "subst" "0" "03211" "FBN1_000818" "g.48888534C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48596337C>T" "present" "VUS" "ACMG" "0000459121" "0" "50" "15" "48888524" "48888524" "subst" "0" "03211" "FBN1_000817" "g.48888524C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48596327C>G" "present" "VUS" "ACMG" "0000459122" "0" "70" "15" "48888521" "48888521" "subst" "0" "03211" "FBN1_000816" "g.48888521C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48596324C>G" "present" "likely pathogenic" "ACMG" "0000459123" "0" "70" "15" "48888489" "48888489" "subst" "0" "03211" "FBN1_000815" "g.48888489A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48596292A>G" "present" "likely pathogenic" "ACMG" "0000459124" "0" "50" "15" "48829988" "48829988" "subst" "0" "03211" "FBN1_000814" "g.48829988A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48537791A>G" "present" "VUS" "ACMG" "0000459125" "0" "50" "15" "48829955" "48829955" "subst" "0" "03211" "FBN1_000813" "g.48829955C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48537758C>G" "present" "VUS" "ACMG" "0000459126" "0" "50" "15" "48829915" "48829915" "subst" "0" "03211" "FBN1_000812" "g.48829915C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48537718C>T" "present" "VUS" "ACMG" "0000459127" "0" "70" "15" "48829904" "48829904" "subst" "0" "03211" "FBN1_000811" "g.48829904C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48537707C>T" "present" "likely pathogenic" "ACMG" "0000459128" "0" "70" "15" "48829895" "48829895" "subst" "0.0000040621" "03211" "FBN1_000810" "g.48829895A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48537698A>C" "present" "likely pathogenic" "ACMG" "0000459129" "0" "50" "15" "48829847" "48829847" "subst" "0" "03211" "FBN1_000809" "g.48829847G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48537650G>A" "present" "VUS" "ACMG" "0000459130" "0" "90" "15" "48829826" "48829826" "subst" "0" "03211" "FBN1_000074" "g.48829826G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48537629G>A" "present" "pathogenic" "ACMG" "0000459131" "0" "50" "15" "48829822" "48829822" "subst" "0" "03211" "FBN1_000808" "g.48829822G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48537625G>A" "present" "VUS" "ACMG" "0000459132" "0" "50" "15" "48826352" "48826352" "subst" "0" "03211" "FBN1_000807" "g.48826352T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48534155T>C" "present" "VUS" "ACMG" "0000459133" "0" "70" "15" "48826328" "48826328" "subst" "0" "03211" "FBN1_000806" "g.48826328A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48534131A>C" "present" "likely pathogenic" "ACMG" "0000459134" "0" "50" "15" "48826325" "48826325" "subst" "0.0000121825" "03211" "FBN1_000805" "g.48826325T>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48534128T>G" "present" "VUS" "ACMG" "0000459135" "0" "50" "15" "48826318" "48826318" "subst" "0.00000406098" "03211" "FBN1_000804" "g.48826318G>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48534121G>T" "present" "VUS" "ACMG" "0000459136" "0" "50" "15" "48826296" "48826296" "subst" "0.0000203036" "03211" "FBN1_000803" "g.48826296T>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48534099T>G" "present" "VUS" "ACMG" "0000459137" "0" "30" "15" "48818430" "48818430" "subst" "0.0000121859" "03211" "FBN1_000802" "g.48818430A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48526233A>C" "present" "likely benign" "ACMG" "0000459138" "0" "30" "15" "48818413" "48818413" "subst" "0.000190913" "03211" "FBN1_000801" "g.48818413C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48526216C>A" "present" "likely benign" "ACMG" "0000459139" "0" "50" "15" "48818335" "48818335" "subst" "0.0000121868" "03211" "FBN1_000800" "g.48818335C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48526138C>G" "present" "VUS" "ACMG" "0000459140" "0" "10" "15" "48818329" "48818329" "subst" "0.00155168" "03211" "FBN1_000186" "g.48818329A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48526132A>G" "present" "benign" "ACMG" "0000459141" "0" "50" "15" "48812976" "48812976" "subst" "0.00018693" "03211" "FBN1_000211" "g.48812976C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48520779C>T" "present" "VUS" "ACMG" "0000459142" "0" "50" "15" "48812967" "48812967" "subst" "0" "03211" "FBN1_000799" "g.48812967A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48520770A>G" "present" "VUS" "ACMG" "0000459143" "0" "50" "15" "48812912" "48812912" "subst" "0" "03211" "FBN1_000798" "g.48812912C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48520715C>G" "present" "VUS" "ACMG" "0000459144" "0" "70" "15" "48812874" "48812874" "subst" "0" "03211" "FBN1_000797" "g.48812874A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48520677A>G" "present" "likely pathogenic" "ACMG" "0000459145" "0" "50" "15" "48812856" "48812856" "subst" "0" "03211" "FBN1_000182" "g.48812856C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48520659C>T" "present" "VUS" "ACMG" "0000459146" "0" "30" "15" "48808549" "48808549" "subst" "0.0000654461" "03211" "FBN1_000796" "g.48808549G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48516352G>C" "present" "likely benign" "ACMG" "0000459147" "0" "50" "15" "48808532" "48808532" "subst" "0.0000040816" "03211" "FBN1_000029" "g.48808532G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48516335G>A" "present" "VUS" "ACMG" "0000459148" "0" "50" "15" "48808514" "48808514" "subst" "0" "03211" "FBN1_000795" "g.48808514C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48516317C>T" "present" "VUS" "ACMG" "0000459149" "0" "50" "15" "48808512" "48808512" "subst" "0.00000407637" "03211" "FBN1_000794" "g.48808512G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48516315G>C" "present" "VUS" "ACMG" "0000459150" "0" "50" "15" "48808472" "48808472" "subst" "0.0000121931" "03211" "FBN1_000793" "g.48808472A>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48516275A>T" "present" "VUS" "ACMG" "0000459151" "0" "30" "15" "48808442" "48808442" "subst" "0.000065029" "03211" "FBN1_000792" "g.48808442C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48516245C>T" "present" "likely benign" "ACMG" "0000459152" "0" "50" "15" "48808425" "48808425" "subst" "0" "03211" "FBN1_000791" "g.48808425G>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48516228G>T" "present" "VUS" "ACMG" "0000459153" "0" "50" "15" "48808421" "48808421" "subst" "0.0000284451" "03211" "FBN1_000790" "g.48808421C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48516224C>T" "present" "VUS" "ACMG" "0000459154" "0" "50" "15" "48808418" "48808418" "subst" "0.0000203163" "03211" "FBN1_000180" "g.48808418G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48516221G>A" "present" "VUS" "ACMG" "0000459155" "0" "30" "15" "48807707" "48807707" "subst" "0.0000528859" "03211" "FBN1_000789" "g.48807707C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48515510C>T" "present" "likely benign" "ACMG" "0000459156" "0" "50" "15" "48807662" "48807662" "subst" "0.00000406507" "03211" "FBN1_000788" "g.48807662G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48515465G>C" "present" "VUS" "ACMG" "0000459157" "0" "70" "15" "48807631" "48807631" "subst" "0" "03211" "FBN1_000042" "g.48807631C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48515434C>T" "present" "likely pathogenic" "ACMG" "0000459158" "0" "70" "15" "48807626" "48807626" "subst" "0" "03211" "FBN1_000786" "g.48807626A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48515429A>G" "present" "likely pathogenic" "ACMG" "0000459159" "0" "90" "15" "48807626" "48807626" "subst" "0" "03211" "FBN1_000787" "g.48807626A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48515429A>C" "present" "pathogenic" "ACMG" "0000459160" "0" "70" "15" "48807599" "48807599" "subst" "0" "03211" "FBN1_000177" "g.48807599G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48515402G>A" "present" "likely pathogenic" "ACMG" "0000459161" "0" "50" "15" "48807598" "48807598" "subst" "0.00000813312" "03211" "FBN1_000785" "g.48807598C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48515401C>A" "present" "VUS" "ACMG" "0000459162" "0" "70" "15" "48805853" "48805853" "subst" "0" "03211" "FBN1_000783" "g.48805853C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48513656C>T" "present" "likely pathogenic" "ACMG" "0000459163" "0" "70" "15" "48805853" "48805853" "subst" "0" "03211" "FBN1_000784" "g.48805853C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48513656C>A" "present" "likely pathogenic" "ACMG" "0000459164" "0" "90" "15" "48805838" "48805838" "subst" "0" "03211" "FBN1_000782" "g.48805838C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48513641C>T" "present" "pathogenic" "ACMG" "0000459165" "0" "50" "15" "48805836" "48805836" "subst" "0" "03211" "FBN1_000781" "g.48805836C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48513639C>G" "present" "VUS" "ACMG" "0000459166" "0" "70" "15" "48805809" "48805809" "subst" "0" "03211" "FBN1_000780" "g.48805809C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48513612C>A" "present" "likely pathogenic" "ACMG" "0000459167" "0" "70" "15" "48805802" "48805802" "subst" "0" "03211" "FBN1_000779" "g.48805802T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48513605T>C" "present" "likely pathogenic" "ACMG" "0000459168" "0" "70" "15" "48805796" "48805796" "subst" "0" "03211" "FBN1_000778" "g.48805796C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48513599C>A" "present" "likely pathogenic" "ACMG" "0000459169" "0" "30" "15" "48805787" "48805787" "subst" "0.0000203181" "03211" "FBN1_000777" "g.48805787C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48513590C>T" "present" "likely benign" "ACMG" "0000459170" "0" "50" "15" "48805782" "48805782" "subst" "0" "03211" "FBN1_000776" "g.48805782C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48513585C>T" "present" "VUS" "ACMG" "0000459171" "0" "50" "15" "48805781" "48805781" "subst" "0" "03211" "FBN1_000775" "g.48805781C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48513584C>A" "present" "VUS" "ACMG" "0000459172" "0" "30" "15" "48805763" "48805763" "subst" "0.0000325142" "03211" "FBN1_000774" "g.48805763G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48513566G>A" "present" "likely benign" "ACMG" "0000459173" "0" "70" "15" "48805751" "48805751" "subst" "0" "03211" "FBN1_000773" "g.48805751C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48513554C>T" "present" "likely pathogenic" "ACMG" "0000459174" "0" "70" "15" "48802366" "48802366" "subst" "0" "03211" "FBN1_000772" "g.48802366T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48510169T>C" "present" "likely pathogenic" "ACMG" "0000459175" "0" "70" "15" "48802354" "48802354" "subst" "0" "03211" "FBN1_000771" "g.48802354C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48510157C>T" "present" "likely pathogenic" "ACMG" "0000459176" "0" "50" "15" "48802327" "48802327" "subst" "0" "03211" "FBN1_000770" "g.48802327T>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48510130T>A" "present" "VUS" "ACMG" "0000459177" "0" "70" "15" "48802325" "48802325" "subst" "0" "03211" "FBN1_000769" "g.48802325C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48510128C>T" "present" "likely pathogenic" "ACMG" "0000459178" "0" "90" "15" "48802322" "48802322" "subst" "0" "03211" "FBN1_000175" "g.48802322G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48510125G>A" "present" "pathogenic" "ACMG" "0000459179" "0" "50" "15" "48802321" "48802321" "subst" "0" "03211" "FBN1_000768" "g.48802321C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48510124C>T" "present" "VUS" "ACMG" "0000459180" "0" "90" "15" "48802312" "48802312" "subst" "0" "03211" "FBN1_000767" "g.48802312T>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48510115T>A" "present" "pathogenic" "ACMG" "0000459181" "0" "70" "15" "48802291" "48802291" "subst" "0" "03211" "FBN1_000766" "g.48802291C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48510094C>A" "present" "likely pathogenic" "ACMG" "0000459182" "0" "70" "15" "48802285" "48802285" "subst" "0" "03211" "FBN1_000765" "g.48802285C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48510088C>T" "present" "likely pathogenic" "ACMG" "0000459183" "0" "50" "15" "48802279" "48802279" "subst" "0.0000162595" "03211" "FBN1_000764" "g.48802279G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48510082G>A" "present" "VUS" "ACMG" "0000459184" "0" "50" "15" "48802277" "48802277" "subst" "0" "03211" "FBN1_000763" "g.48802277C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48510080C>T" "present" "VUS" "ACMG" "0000459185" "0" "50" "15" "48802261" "48802261" "subst" "0.00000813001" "03211" "FBN1_000762" "g.48802261C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48510064C>T" "present" "VUS" "ACMG" "0000459186" "0" "70" "15" "48800890" "48800890" "subst" "0" "03211" "FBN1_000761" "g.48800890A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48508693A>C" "present" "likely pathogenic" "ACMG" "0000459187" "0" "70" "15" "48800863" "48800863" "subst" "0" "03211" "FBN1_000760" "g.48800863C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48508666C>T" "present" "likely pathogenic" "ACMG" "0000459188" "0" "50" "15" "48800862" "48800862" "subst" "0" "03211" "FBN1_000759" "g.48800862C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48508665C>G" "present" "VUS" "ACMG" "0000459189" "0" "70" "15" "48800842" "48800842" "subst" "0" "03211" "FBN1_000758" "g.48800842C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48508645C>A" "present" "likely pathogenic" "ACMG" "0000459190" "0" "70" "15" "48800830" "48800830" "subst" "0" "03211" "FBN1_000757" "g.48800830A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48508633A>C" "present" "likely pathogenic" "ACMG" "0000459191" "0" "70" "15" "48800791" "48800791" "subst" "0.00000406312" "03211" "FBN1_000756" "g.48800791G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48508594G>A" "present" "likely pathogenic" "ACMG" "0000459192" "0" "50" "15" "48800790" "48800790" "subst" "0.0000121893" "03211" "FBN1_000755" "g.48800790C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48508593C>T" "present" "VUS" "ACMG" "0000459193" "0" "50" "15" "48797338" "48797338" "subst" "0.0000121855" "03211" "FBN1_000754" "g.48797338T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48505141T>C" "present" "VUS" "ACMG" "0000459194" "0" "70" "15" "48797336" "48797336" "subst" "0" "03211" "FBN1_000753" "g.48797336C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48505139C>T" "present" "likely pathogenic" "ACMG" "0000459195" "0" "70" "15" "48797333" "48797333" "subst" "0" "03211" "FBN1_000752" "g.48797333A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48505136A>C" "present" "likely pathogenic" "ACMG" "0000459196" "0" "70" "15" "48797306" "48797306" "subst" "0" "03211" "FBN1_000751" "g.48797306C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48505109C>T" "present" "likely pathogenic" "ACMG" "0000459197" "0" "90" "15" "48797303" "48797303" "subst" "0" "03211" "FBN1_000750" "g.48797303G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48505106G>A" "present" "pathogenic" "ACMG" "0000459198" "0" "50" "15" "48797302" "48797302" "subst" "0.0000365556" "03211" "FBN1_000749" "g.48797302C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48505105C>T" "present" "VUS" "ACMG" "0000459199" "0" "70" "15" "48797299" "48797299" "subst" "0" "03211" "FBN1_000748" "g.48797299C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48505102C>A" "present" "likely pathogenic" "ACMG" "0000459200" "0" "70" "15" "48797294" "48797294" "subst" "0" "03211" "FBN1_000747" "g.48797294T>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48505097T>A" "present" "likely pathogenic" "ACMG" "0000459201" "0" "70" "15" "48797293" "48797293" "subst" "0" "03211" "FBN1_000746" "g.48797293T>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48505096T>A" "present" "likely pathogenic" "ACMG" "0000459202" "0" "70" "15" "48797292" "48797292" "subst" "0" "03211" "FBN1_000745" "g.48797292G>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48505095G>T" "present" "likely pathogenic" "ACMG" "0000459203" "0" "70" "15" "48797273" "48797273" "subst" "0" "03211" "FBN1_000744" "g.48797273A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48505076A>G" "present" "likely pathogenic" "ACMG" "0000459204" "0" "50" "15" "48797268" "48797268" "subst" "0" "03211" "FBN1_000743" "g.48797268T>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48505071T>G" "present" "VUS" "ACMG" "0000459205" "0" "70" "15" "48797267" "48797267" "subst" "0" "03211" "FBN1_000742" "g.48797267A>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48505070A>T" "present" "likely pathogenic" "ACMG" "0000459206" "0" "70" "15" "48797266" "48797266" "subst" "0" "03211" "FBN1_000741" "g.48797266C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48505069C>T" "present" "likely pathogenic" "ACMG" "0000459207" "0" "90" "15" "48797234" "48797234" "subst" "0" "03211" "FBN1_000740" "g.48797234G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48505037G>A" "present" "pathogenic" "ACMG" "0000459208" "0" "50" "15" "48796124" "48796124" "subst" "0" "03211" "FBN1_000739" "g.48796124C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48503927C>T" "present" "VUS" "ACMG" "0000459209" "0" "70" "15" "48796115" "48796115" "subst" "0" "03211" "FBN1_000738" "g.48796115C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48503918C>T" "present" "likely pathogenic" "ACMG" "0000459210" "0" "50" "15" "48796075" "48796075" "subst" "0" "03211" "FBN1_000737" "g.48796075C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48503878C>G" "present" "VUS" "ACMG" "0000459211" "0" "90" "15" "48796042" "48796042" "subst" "0" "03211" "FBN1_000736" "g.48796042G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48503845G>C" "present" "pathogenic" "ACMG" "0000459212" "0" "30" "15" "48796041" "48796041" "subst" "0.0000609216" "03211" "FBN1_000735" "g.48796041C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48503844C>T" "present" "likely benign" "ACMG" "0000459213" "0" "50" "15" "48796040" "48796040" "subst" "0" "03211" "FBN1_000734" "g.48796040G>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48503843G>T" "present" "VUS" "ACMG" "0000459214" "0" "50" "15" "48796026" "48796026" "subst" "0" "03211" "FBN1_000733" "g.48796026C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48503829C>G" "present" "VUS" "ACMG" "0000459215" "0" "30" "15" "48796005" "48796005" "subst" "0" "03211" "FBN1_000732" "g.48796005G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48503808G>A" "present" "likely benign" "ACMG" "0000459216" "0" "30" "15" "48796004" "48796004" "subst" "0.0000121885" "03211" "FBN1_000731" "g.48796004G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48503807G>A" "present" "likely benign" "ACMG" "0000459217" "0" "50" "15" "48791223" "48791223" "subst" "0" "03211" "FBN1_000730" "g.48791223G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48499026G>C" "present" "VUS" "ACMG" "0000459218" "0" "50" "15" "48791202" "48791202" "subst" "0" "03211" "FBN1_000729" "g.48791202C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48499005C>T" "present" "VUS" "ACMG" "0000459219" "0" "50" "15" "48791196" "48791196" "subst" "0.00000406068" "03211" "FBN1_000728" "g.48791196G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48498999G>A" "present" "VUS" "ACMG" "0000459220" "0" "70" "15" "48789588" "48789588" "subst" "0" "03211" "FBN1_000727" "g.48789588T>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48497391T>G" "present" "likely pathogenic" "ACMG" "0000459221" "0" "50" "15" "48789585" "48789585" "subst" "0" "03211" "FBN1_000726" "g.48789585A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48497388A>G" "present" "VUS" "ACMG" "0000459222" "0" "70" "15" "48789577" "48789577" "subst" "0" "03211" "FBN1_000725" "g.48789577A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48497380A>G" "present" "likely pathogenic" "ACMG" "0000459223" "0" "50" "15" "48789568" "48789568" "subst" "0.00000406233" "03211" "FBN1_000724" "g.48789568C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48497371C>T" "present" "VUS" "ACMG" "0000459224" "0" "70" "15" "48789555" "48789555" "subst" "0" "03211" "FBN1_000722" "g.48789555C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48497358C>T" "present" "likely pathogenic" "ACMG" "0000459225" "0" "70" "15" "48789555" "48789555" "subst" "0" "03211" "FBN1_000723" "g.48789555C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48497358C>A" "present" "likely pathogenic" "ACMG" "0000459226" "0" "50" "15" "48789550" "48789550" "subst" "0.0000040622" "03211" "FBN1_000721" "g.48789550T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48497353T>C" "present" "VUS" "ACMG" "0000459227" "0" "70" "15" "48789529" "48789529" "subst" "0" "03211" "FBN1_000720" "g.48789529G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48497332G>A" "present" "likely pathogenic" "ACMG" "0000459228" "0" "50" "15" "48789528" "48789528" "subst" "0.0000162477" "03211" "FBN1_000719" "g.48789528C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48497331C>T" "present" "VUS" "ACMG" "0000459229" "0" "70" "15" "48789514" "48789514" "subst" "0" "03211" "FBN1_000718" "g.48789514A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48497317A>G" "present" "likely pathogenic" "ACMG" "0000459230" "0" "70" "15" "48789513" "48789513" "subst" "0" "03211" "FBN1_000717" "g.48789513C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48497316C>T" "present" "likely pathogenic" "ACMG" "0000459231" "0" "50" "15" "48789498" "48789498" "subst" "0" "03211" "FBN1_000716" "g.48789498C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48497301C>A" "present" "VUS" "ACMG" "0000459232" "0" "90" "15" "48789495" "48789495" "subst" "0" "03211" "FBN1_000715" "g.48789495T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48497298T>C" "present" "pathogenic" "ACMG" "0000459233" "0" "70" "15" "48788413" "48788413" "subst" "0" "03211" "FBN1_000714" "g.48788413T>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48496216T>G" "present" "likely pathogenic" "ACMG" "0000459234" "0" "70" "15" "48788411" "48788411" "subst" "0" "03211" "FBN1_000713" "g.48788411A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48496214A>G" "present" "likely pathogenic" "ACMG" "0000459235" "0" "50" "15" "48788377" "48788377" "subst" "0.00000406296" "03211" "FBN1_000712" "g.48788377T>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48496180T>A" "present" "VUS" "ACMG" "0000459236" "0" "70" "15" "48788375" "48788375" "subst" "0" "03211" "FBN1_000711" "g.48788375A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48496178A>G" "present" "likely pathogenic" "ACMG" "0000459237" "0" "70" "15" "48788347" "48788347" "subst" "0" "03211" "FBN1_000709" "g.48788347C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48496150C>G" "present" "likely pathogenic" "ACMG" "0000459238" "0" "70" "15" "48788347" "48788347" "subst" "0" "03211" "FBN1_000710" "g.48788347C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48496150C>A" "present" "likely pathogenic" "ACMG" "0000459239" "0" "70" "15" "48788341" "48788341" "subst" "0" "03211" "FBN1_000708" "g.48788341C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48496144C>A" "present" "likely pathogenic" "ACMG" "0000459240" "0" "70" "15" "48788330" "48788330" "subst" "0" "03211" "FBN1_000707" "g.48788330A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48496133A>G" "present" "likely pathogenic" "ACMG" "0000459241" "0" "70" "15" "48788323" "48788323" "subst" "0.00000406322" "03211" "FBN1_000706" "g.48788323T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48496126T>C" "present" "likely pathogenic" "ACMG" "0000459242" "0" "50" "15" "48787771" "48787771" "subst" "0.000032546" "03211" "FBN1_000168" "g.48787771C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495574C>T" "present" "VUS" "ACMG" "0000459243" "0" "70" "15" "48787758" "48787758" "subst" "0" "03211" "FBN1_000705" "g.48787758C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495561C>G" "present" "likely pathogenic" "ACMG" "0000459244" "0" "70" "15" "48787757" "48787757" "subst" "0" "03211" "FBN1_000704" "g.48787757G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495560G>C" "present" "likely pathogenic" "ACMG" "0000459245" "0" "50" "15" "48787726" "48787726" "subst" "0" "03211" "FBN1_000703" "g.48787726A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495529A>G" "present" "VUS" "ACMG" "0000459246" "0" "70" "15" "48787717" "48787717" "subst" "0" "03211" "FBN1_000702" "g.48787717A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495520A>C" "present" "likely pathogenic" "ACMG" "0000459247" "0" "70" "15" "48787716" "48787716" "subst" "0" "03211" "FBN1_000701" "g.48787716C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495519C>G" "present" "likely pathogenic" "ACMG" "0000459248" "0" "70" "15" "48787710" "48787710" "subst" "0" "03211" "FBN1_000700" "g.48787710C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495513C>T" "present" "likely pathogenic" "ACMG" "0000459249" "0" "70" "15" "48787709" "48787709" "subst" "0" "03211" "FBN1_000699" "g.48787709A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495512A>C" "present" "likely pathogenic" "ACMG" "0000459250" "0" "50" "15" "48787697" "48787697" "subst" "0.00000813703" "03211" "FBN1_000167" "g.48787697A>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495500A>T" "present" "VUS" "ACMG" "0000459251" "0" "30" "15" "48787686" "48787686" "subst" "0" "03211" "FBN1_000698" "g.48787686G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495489G>A" "present" "likely benign" "ACMG" "0000459252" "0" "50" "15" "48787668" "48787668" "subst" "0" "03211" "FBN1_000697" "g.48787668A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495471A>G" "present" "VUS" "ACMG" "0000459253" "0" "50" "15" "48787455" "48787455" "subst" "0" "03211" "FBN1_000696" "g.48787455T>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495258T>G" "present" "VUS" "ACMG" "0000459254" "0" "50" "15" "48787454" "48787454" "subst" "0" "03211" "FBN1_000695" "g.48787454G>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495257G>T" "present" "VUS" "ACMG" "0000459255" "0" "30" "15" "48787450" "48787450" "subst" "0.0000324984" "03211" "FBN1_000694" "g.48787450G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495253G>C" "present" "likely benign" "ACMG" "0000459256" "0" "50" "15" "48787415" "48787415" "subst" "0.00000406108" "03211" "FBN1_000693" "g.48787415C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495218C>T" "present" "VUS" "ACMG" "0000459257" "0" "50" "15" "48787401" "48787401" "subst" "0.00000406114" "03211" "FBN1_000692" "g.48787401T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495204T>C" "present" "VUS" "ACMG" "0000459258" "0" "70" "15" "48787373" "48787373" "subst" "0" "03211" "FBN1_000691" "g.48787373C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495176C>T" "present" "likely pathogenic" "ACMG" "0000459259" "0" "70" "15" "48787370" "48787370" "subst" "0" "03211" "FBN1_000690" "g.48787370C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495173C>T" "present" "likely pathogenic" "ACMG" "0000459260" "0" "50" "15" "48787359" "48787359" "subst" "0" "03211" "FBN1_000689" "g.48787359C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495162C>G" "present" "VUS" "ACMG" "0000459261" "0" "70" "15" "48787358" "48787358" "subst" "0" "03211" "FBN1_000688" "g.48787358C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495161C>T" "present" "likely pathogenic" "ACMG" "0000459262" "0" "70" "15" "48787352" "48787352" "subst" "0" "03211" "FBN1_000164" "g.48787352G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495155G>A" "present" "likely pathogenic" "ACMG" "0000459263" "0" "50" "15" "48787340" "48787340" "subst" "0" "03211" "FBN1_000687" "g.48787340G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495143G>A" "present" "VUS" "ACMG" "0000459264" "0" "70" "15" "48787328" "48787328" "subst" "0" "03211" "FBN1_000686" "g.48787328C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495131C>T" "present" "likely pathogenic" "ACMG" "0000459265" "0" "50" "15" "48787320" "48787320" "subst" "0" "03211" "FBN1_000685" "g.48787320C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48495123C>G" "present" "VUS" "ACMG" "0000459266" "0" "50" "15" "48786434" "48786434" "subst" "0" "03211" "FBN1_000684" "g.48786434C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48494237C>T" "present" "VUS" "ACMG" "0000459267" "0" "50" "15" "48786416" "48786416" "subst" "0.00000406567" "03211" "FBN1_000683" "g.48786416C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48494219C>T" "present" "VUS" "ACMG" "0000459268" "0" "50" "15" "48786415" "48786415" "subst" "0" "03211" "FBN1_000682" "g.48786415C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48494218C>T" "present" "VUS" "ACMG" "0000459269" "0" "70" "15" "48786407" "48786407" "subst" "0" "03211" "FBN1_000681" "g.48786407A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48494210A>G" "present" "likely pathogenic" "ACMG" "0000459270" "0" "70" "15" "48786406" "48786406" "subst" "0" "03211" "FBN1_000680" "g.48786406C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48494209C>G" "present" "likely pathogenic" "ACMG" "0000459271" "0" "50" "15" "48784769" "48784769" "subst" "0.00000406306" "03211" "FBN1_000679" "g.48784769C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48492572C>T" "present" "VUS" "ACMG" "0000459272" "0" "30" "15" "48784766" "48784766" "subst" "0.0000487563" "03211" "FBN1_000678" "g.48784766C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48492569C>T" "present" "likely benign" "ACMG" "0000459273" "0" "70" "15" "48784702" "48784702" "subst" "0" "03211" "FBN1_000677" "g.48784702C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48492505C>T" "present" "likely pathogenic" "ACMG" "0000459274" "0" "50" "15" "48782269" "48782269" "subst" "0" "03211" "FBN1_000676" "g.48782269C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48490072C>T" "present" "VUS" "ACMG" "0000459275" "0" "30" "15" "48782248" "48782248" "subst" "0" "03211" "FBN1_000675" "g.48782248C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48490051C>T" "present" "likely benign" "ACMG" "0000459276" "0" "50" "15" "48782227" "48782227" "subst" "0" "03211" "FBN1_000674" "g.48782227G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48490030G>A" "present" "VUS" "ACMG" "0000459277" "0" "90" "15" "48782210" "48782210" "subst" "0" "03211" "FBN1_000673" "g.48782210G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48490013G>A" "present" "pathogenic" "ACMG" "0000459278" "0" "70" "15" "48782204" "48782204" "subst" "0.0000121827" "03211" "FBN1_000672" "g.48782204G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48490007G>A" "present" "likely pathogenic" "ACMG" "0000459279" "0" "30" "15" "48782203" "48782203" "subst" "0.000109646" "03211" "FBN1_000671" "g.48782203C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48490006C>T" "present" "likely benign" "ACMG" "0000459280" "0" "50" "15" "48782200" "48782200" "subst" "0.0000162437" "03211" "FBN1_000670" "g.48782200A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48490003A>C" "present" "VUS" "ACMG" "0000459281" "0" "50" "15" "48782199" "48782199" "subst" "0" "03211" "FBN1_000669" "g.48782199C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48490002C>G" "present" "VUS" "ACMG" "0000459282" "0" "30" "15" "48782196" "48782196" "subst" "0.000308639" "03211" "FBN1_000668" "g.48782196G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48489999G>C" "present" "likely benign" "ACMG" "0000459283" "0" "70" "15" "48782188" "48782188" "subst" "0" "03211" "FBN1_000667" "g.48782188C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48489991C>G" "present" "likely pathogenic" "ACMG" "0000459284" "0" "70" "15" "48782185" "48782185" "subst" "0" "03211" "FBN1_000666" "g.48782185C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48489988C>G" "present" "likely pathogenic" "ACMG" "0000459285" "0" "50" "15" "48782177" "48782177" "subst" "0" "03211" "FBN1_000665" "g.48782177C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48489980C>T" "present" "VUS" "ACMG" "0000459286" "0" "50" "15" "48782176" "48782176" "subst" "0" "03211" "FBN1_000664" "g.48782176C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48489979C>T" "present" "VUS" "ACMG" "0000459287" "0" "30" "15" "48782174" "48782174" "subst" "0.00118987" "03211" "FBN1_000663" "g.48782174C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48489977C>T" "present" "likely benign" "ACMG" "0000459288" "0" "30" "15" "48782117" "48782117" "subst" "0.000012183" "03211" "FBN1_000662" "g.48782117C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48489920C>T" "present" "likely benign" "ACMG" "0000459289" "0" "50" "15" "48782110" "48782110" "subst" "0" "03211" "FBN1_000209" "g.48782110A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48489913A>C" "present" "VUS" "ACMG" "0000459290" "0" "50" "15" "48782104" "48782104" "subst" "0.0000649831" "03211" "FBN1_000661" "g.48782104G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48489907G>C" "present" "VUS" "ACMG" "0000459291" "0" "90" "15" "48782093" "48782093" "subst" "0" "03211" "FBN1_000077" "g.48782093C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48489896C>T" "present" "pathogenic" "ACMG" "0000459292" "0" "30" "15" "48782087" "48782087" "subst" "0.000020311" "03211" "FBN1_000660" "g.48782087C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48489890C>T" "present" "likely benign" "ACMG" "0000459293" "0" "30" "15" "48782072" "48782072" "subst" "0.000459223" "03211" "FBN1_000659" "g.48782072T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48489875T>C" "present" "likely benign" "ACMG" "0000459294" "0" "30" "15" "48782053" "48782053" "subst" "0.000639313" "03211" "FBN1_000658" "g.48782053A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48489856A>G" "present" "likely benign" "ACMG" "0000459295" "0" "70" "15" "48780690" "48780690" "subst" "0" "03211" "FBN1_000657" "g.48780690T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488493T>C" "present" "likely pathogenic" "ACMG" "0000459296" "0" "70" "15" "48780684" "48780684" "subst" "0.000276403" "03211" "FBN1_000656" "g.48780684T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488487T>C" "present" "likely pathogenic" "ACMG" "0000459297" "0" "70" "15" "48780682" "48780682" "subst" "0" "03211" "FBN1_000655" "g.48780682C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488485C>T" "present" "likely pathogenic" "ACMG" "0000459298" "0" "70" "15" "48780679" "48780679" "subst" "0" "03211" "FBN1_000654" "g.48780679A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488482A>G" "present" "likely pathogenic" "ACMG" "0000459299" "0" "70" "15" "48780678" "48780678" "subst" "0" "03211" "FBN1_000653" "g.48780678C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488481C>T" "present" "likely pathogenic" "ACMG" "0000459300" "0" "50" "15" "48780650" "48780650" "subst" "0" "03211" "FBN1_000652" "g.48780650G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488453G>C" "present" "VUS" "ACMG" "0000459301" "0" "70" "15" "48780649" "48780649" "subst" "0" "03211" "FBN1_000651" "g.48780649C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488452C>T" "present" "likely pathogenic" "ACMG" "0000459302" "0" "70" "15" "48780648" "48780648" "subst" "0" "03211" "FBN1_000650" "g.48780648C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488451C>T" "present" "likely pathogenic" "ACMG" "0000459303" "0" "50" "15" "48780645" "48780645" "subst" "0.00000812189" "03211" "FBN1_000649" "g.48780645T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488448T>C" "present" "VUS" "ACMG" "0000459304" "0" "70" "15" "48780642" "48780642" "subst" "0" "03211" "FBN1_000648" "g.48780642C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488445C>T" "present" "likely pathogenic" "ACMG" "0000459305" "0" "70" "15" "48780628" "48780628" "subst" "0" "03211" "FBN1_000647" "g.48780628C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488431C>A" "present" "likely pathogenic" "ACMG" "0000459306" "0" "50" "15" "48780627" "48780627" "subst" "0" "03211" "FBN1_000646" "g.48780627C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488430C>T" "present" "VUS" "ACMG" "0000459307" "0" "90" "15" "48780609" "48780609" "subst" "0" "03211" "FBN1_000645" "g.48780609C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488412C>T" "present" "pathogenic" "ACMG" "0000459308" "0" "50" "15" "48780601" "48780601" "subst" "0" "03211" "FBN1_000644" "g.48780601C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488404C>T" "present" "VUS" "ACMG" "0000459309" "0" "50" "15" "48780600" "48780600" "subst" "0" "03211" "FBN1_000643" "g.48780600C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488403C>A" "present" "VUS" "ACMG" "0000459310" "0" "50" "15" "48780589" "48780589" "subst" "0.0000121819" "03211" "FBN1_000642" "g.48780589C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488392C>T" "present" "VUS" "ACMG" "0000459311" "0" "50" "15" "48780576" "48780576" "subst" "0.0000406068" "03211" "FBN1_000641" "g.48780576C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488379C>G" "present" "VUS" "ACMG" "0000459312" "0" "90" "15" "48780430" "48780430" "subst" "0" "03211" "FBN1_000640" "g.48780430C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488233C>T" "present" "pathogenic" "ACMG" "0000459313" "0" "90" "15" "48780427" "48780427" "subst" "0" "03211" "FBN1_000639" "g.48780427A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488230A>G" "present" "pathogenic" "ACMG" "0000459314" "0" "90" "15" "48780426" "48780426" "subst" "0" "03211" "FBN1_000638" "g.48780426C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488229C>T" "present" "pathogenic" "ACMG" "0000459315" "0" "30" "15" "48780421" "48780421" "subst" "0.0000243657" "03211" "FBN1_000637" "g.48780421T>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488224T>G" "present" "likely benign" "ACMG" "0000459316" "0" "90" "15" "48780390" "48780390" "subst" "0" "03211" "FBN1_000636" "g.48780390C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488193C>T" "present" "pathogenic" "ACMG" "0000459317" "0" "70" "15" "48780364" "48780364" "subst" "0" "03211" "FBN1_000635" "g.48780364A>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488167A>T" "present" "likely pathogenic" "ACMG" "0000459318" "0" "70" "15" "48780358" "48780358" "subst" "0" "03211" "FBN1_000634" "g.48780358A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48488161A>G" "present" "likely pathogenic" "ACMG" "0000459319" "0" "90" "15" "48779628" "48779628" "subst" "0" "03211" "FBN1_000633" "g.48779628T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487431T>C" "present" "pathogenic" "ACMG" "0000459320" "0" "90" "15" "48779622" "48779622" "subst" "0" "03211" "FBN1_000632" "g.48779622C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487425C>T" "present" "pathogenic" "ACMG" "0000459321" "0" "50" "15" "48779598" "48779598" "subst" "0.0000243671" "03211" "FBN1_000631" "g.48779598C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487401C>T" "present" "VUS" "ACMG" "0000459322" "0" "70" "15" "48779593" "48779593" "subst" "0" "03211" "FBN1_000630" "g.48779593C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487396C>T" "present" "likely pathogenic" "ACMG" "0000459323" "0" "70" "15" "48779592" "48779592" "subst" "0" "03211" "FBN1_000628" "g.48779592C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487395C>T" "present" "likely pathogenic" "ACMG" "0000459324" "0" "70" "15" "48779592" "48779592" "subst" "0" "03211" "FBN1_000629" "g.48779592C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487395C>A" "present" "likely pathogenic" "ACMG" "0000459325" "0" "70" "15" "48779586" "48779586" "subst" "0" "03211" "FBN1_000627" "g.48779586C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487389C>T" "present" "likely pathogenic" "ACMG" "0000459326" "0" "50" "15" "48779583" "48779583" "subst" "0.0000121827" "03211" "FBN1_000626" "g.48779583T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487386T>C" "present" "VUS" "ACMG" "0000459327" "0" "70" "15" "48779581" "48779581" "subst" "0" "03211" "FBN1_000625" "g.48779581T>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487384T>A" "present" "likely pathogenic" "ACMG" "0000459328" "0" "70" "15" "48779580" "48779580" "subst" "0" "03211" "FBN1_000624" "g.48779580T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487383T>C" "present" "likely pathogenic" "ACMG" "0000459329" "0" "50" "15" "48779562" "48779562" "subst" "0" "03211" "FBN1_000623" "g.48779562C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487365C>G" "present" "VUS" "ACMG" "0000459330" "0" "70" "15" "48779560" "48779560" "subst" "0" "03211" "FBN1_000622" "g.48779560A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487363A>G" "present" "likely pathogenic" "ACMG" "0000459331" "0" "70" "15" "48779559" "48779559" "subst" "0" "03211" "FBN1_000621" "g.48779559C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487362C>A" "present" "likely pathogenic" "ACMG" "0000459332" "0" "30" "15" "48779557" "48779557" "subst" "0.0000365467" "03211" "FBN1_000620" "g.48779557C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487360C>G" "present" "likely benign" "ACMG" "0000459333" "0" "70" "15" "48779553" "48779553" "subst" "0" "03211" "FBN1_000619" "g.48779553C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487356C>T" "present" "likely pathogenic" "ACMG" "0000459334" "0" "30" "15" "48779550" "48779550" "subst" "0.000889318" "03211" "FBN1_000154" "g.48779550G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487353G>A" "present" "likely benign" "ACMG" "0000459335" "0" "10" "15" "48779530" "48779530" "subst" "0.0310706" "03211" "FBN1_000043" "g.48779530G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487333G>C" "present" "benign" "ACMG" "0000459336" "0" "30" "15" "48779518" "48779518" "subst" "0.000032487" "03211" "FBN1_000618" "g.48779518C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487321C>T" "present" "likely benign" "ACMG" "0000459337" "0" "70" "15" "48779515" "48779515" "subst" "0" "03211" "FBN1_000617" "g.48779515A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487318A>G" "present" "likely pathogenic" "ACMG" "0000459338" "0" "70" "15" "48779509" "48779509" "subst" "0" "03211" "FBN1_000616" "g.48779509C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487312C>T" "present" "likely pathogenic" "ACMG" "0000459339" "0" "70" "15" "48779386" "48779386" "subst" "0" "03211" "FBN1_000615" "g.48779386A>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487189A>T" "present" "likely pathogenic" "ACMG" "0000459340" "0" "70" "15" "48779365" "48779365" "subst" "0" "03211" "FBN1_000614" "g.48779365A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487168A>G" "present" "likely pathogenic" "ACMG" "0000459341" "0" "30" "15" "48779358" "48779358" "subst" "0.0000690355" "03211" "FBN1_000148" "g.48779358T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487161T>C" "present" "likely benign" "ACMG" "0000459342" "0" "70" "15" "48779355" "48779355" "subst" "0" "03211" "FBN1_000612" "g.48779355C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487158C>T" "present" "likely pathogenic" "ACMG" "0000459343" "0" "70" "15" "48779355" "48779355" "subst" "0" "03211" "FBN1_000613" "g.48779355C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487158C>A" "present" "likely pathogenic" "ACMG" "0000459344" "0" "30" "15" "48779352" "48779352" "subst" "0.00123452" "03211" "FBN1_000147" "g.48779352C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487155C>T" "present" "likely benign" "ACMG" "0000459345" "0" "30" "15" "48779347" "48779347" "subst" "0.0000568523" "03211" "FBN1_000611" "g.48779347C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487150C>T" "present" "likely benign" "ACMG" "0000459346" "0" "70" "15" "48779343" "48779343" "subst" "0" "03211" "FBN1_000610" "g.48779343T>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487146T>G" "present" "likely pathogenic" "ACMG" "0000459347" "0" "50" "15" "48779301" "48779301" "subst" "0.00000812394" "03211" "FBN1_000609" "g.48779301T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487104T>C" "present" "VUS" "ACMG" "0000459348" "0" "50" "15" "48779290" "48779290" "subst" "0.00000813101" "03211" "FBN1_000608" "g.48779290C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487093C>T" "present" "VUS" "ACMG" "0000459349" "0" "70" "15" "48779277" "48779277" "subst" "0" "03211" "FBN1_000607" "g.48779277C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487080C>T" "present" "likely pathogenic" "ACMG" "0000459350" "0" "70" "15" "48779272" "48779272" "subst" "0" "03211" "FBN1_000605" "g.48779272C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487075C>T" "present" "likely pathogenic" "ACMG" "0000459351" "0" "70" "15" "48779272" "48779272" "subst" "0" "03211" "FBN1_000606" "g.48779272C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48487075C>G" "present" "likely pathogenic" "ACMG" "0000459352" "0" "70" "15" "48777687" "48777687" "subst" "0" "03211" "FBN1_000604" "g.48777687T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48485490T>C" "present" "likely pathogenic" "ACMG" "0000459353" "0" "50" "15" "48777669" "48777669" "subst" "0" "03211" "FBN1_000603" "g.48777669T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48485472T>C" "present" "VUS" "ACMG" "0000459354" "0" "70" "15" "48777648" "48777648" "subst" "0" "03211" "FBN1_000602" "g.48777648C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48485451C>G" "present" "likely pathogenic" "ACMG" "0000459355" "0" "70" "15" "48777621" "48777621" "subst" "0" "03211" "FBN1_000601" "g.48777621C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48485424C>T" "present" "likely pathogenic" "ACMG" "0000459356" "0" "70" "15" "48777615" "48777615" "subst" "0" "03211" "FBN1_000599" "g.48777615C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48485418C>T" "present" "likely pathogenic" "ACMG" "0000459357" "0" "70" "15" "48777615" "48777615" "subst" "0" "03211" "FBN1_000600" "g.48777615C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48485418C>A" "present" "likely pathogenic" "ACMG" "0000459358" "0" "50" "15" "48777594" "48777594" "subst" "0.0000081217" "03211" "FBN1_000598" "g.48777594A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48485397A>G" "present" "VUS" "ACMG" "0000459359" "0" "70" "15" "48777571" "48777571" "subst" "0" "03211" "FBN1_000597" "g.48777571C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48485374C>T" "present" "likely pathogenic" "ACMG" "0000459360" "0" "70" "15" "48776135" "48776135" "subst" "0.0000367326" "03211" "FBN1_000596" "g.48776135C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48483938C>T" "present" "likely pathogenic" "ACMG" "0000459361" "0" "70" "15" "48776128" "48776128" "subst" "0" "03211" "FBN1_000595" "g.48776128C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48483931C>T" "present" "likely pathogenic" "ACMG" "0000459362" "0" "30" "15" "48776113" "48776113" "subst" "0.000109903" "03211" "FBN1_000594" "g.48776113T>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48483916T>A" "present" "likely benign" "ACMG" "0000459363" "0" "70" "15" "48776107" "48776107" "subst" "0" "03211" "FBN1_000593" "g.48776107C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48483910C>G" "present" "likely pathogenic" "ACMG" "0000459364" "0" "70" "15" "48776092" "48776092" "subst" "0" "03211" "FBN1_000067" "g.48776092C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48483895C>T" "present" "likely pathogenic" "ACMG" "0000459365" "0" "50" "15" "48776081" "48776081" "subst" "0" "03211" "FBN1_000592" "g.48776081G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48483884G>A" "present" "VUS" "ACMG" "0000459366" "0" "50" "15" "48776068" "48776068" "subst" "0.000020333" "03211" "FBN1_000591" "g.48776068C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48483871C>T" "present" "VUS" "ACMG" "0000459367" "0" "70" "15" "48776064" "48776064" "subst" "0" "03211" "FBN1_000590" "g.48776064G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48483867G>C" "present" "likely pathogenic" "ACMG" "0000459368" "0" "70" "15" "48776060" "48776060" "subst" "0" "03211" "FBN1_000589" "g.48776060A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48483863A>G" "present" "likely pathogenic" "ACMG" "0000459369" "0" "30" "15" "48776056" "48776056" "subst" "0.0000569323" "03211" "FBN1_000588" "g.48776056T>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48483859T>A" "present" "likely benign" "ACMG" "0000459370" "0" "70" "15" "48776019" "48776019" "subst" "0" "03211" "FBN1_000587" "g.48776019A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48483822A>C" "present" "likely pathogenic" "ACMG" "0000459371" "0" "70" "15" "48776015" "48776015" "subst" "0" "03211" "FBN1_000586" "g.48776015C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48483818C>T" "present" "likely pathogenic" "ACMG" "0000459372" "0" "70" "15" "48773971" "48773971" "subst" "0.0000528382" "03211" "FBN1_000585" "g.48773971T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48481774T>C" "present" "likely pathogenic" "ACMG" "0000459373" "0" "70" "15" "48773968" "48773968" "subst" "0" "03211" "FBN1_000584" "g.48773968T>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48481771T>G" "present" "likely pathogenic" "ACMG" "0000459374" "0" "70" "15" "48773935" "48773935" "subst" "0" "03211" "FBN1_000583" "g.48773935C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48481738C>A" "present" "likely pathogenic" "ACMG" "0000459375" "0" "70" "15" "48773930" "48773930" "subst" "0" "03211" "FBN1_000582" "g.48773930A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48481733A>G" "present" "likely pathogenic" "ACMG" "0000459376" "0" "30" "15" "48773926" "48773926" "subst" "0.00119866" "03211" "FBN1_000581" "g.48773926T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48481729T>C" "present" "likely benign" "ACMG" "0000459377" "0" "30" "15" "48773920" "48773920" "subst" "0.000292578" "03211" "FBN1_000580" "g.48773920G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48481723G>A" "present" "likely benign" "ACMG" "0000459378" "0" "50" "15" "48773854" "48773854" "subst" "0.00000406716" "03211" "FBN1_000579" "g.48773854G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48481657G>A" "present" "VUS" "ACMG" "0000459379" "0" "70" "15" "48766838" "48766838" "subst" "0" "03211" "FBN1_000578" "g.48766838T>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48474641T>G" "present" "likely pathogenic" "ACMG" "0000459380" "0" "70" "15" "48766835" "48766835" "subst" "0" "03211" "FBN1_000577" "g.48766835C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48474638C>T" "present" "likely pathogenic" "ACMG" "0000459381" "0" "50" "15" "48766811" "48766811" "subst" "0.0000040653" "03211" "FBN1_000576" "g.48766811C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48474614C>T" "present" "VUS" "ACMG" "0000459382" "0" "50" "15" "48766805" "48766805" "subst" "0.00000406511" "03211" "FBN1_000575" "g.48766805T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48474608T>C" "present" "VUS" "ACMG" "0000459383" "0" "70" "15" "48766796" "48766796" "subst" "0" "03211" "FBN1_000574" "g.48766796C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48474599C>G" "present" "likely pathogenic" "ACMG" "0000459384" "0" "70" "15" "48766790" "48766790" "subst" "0" "03211" "FBN1_000573" "g.48766790T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48474593T>C" "present" "likely pathogenic" "ACMG" "0000459385" "0" "70" "15" "48766764" "48766764" "subst" "0" "03211" "FBN1_000572" "g.48766764A>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48474567A>T" "present" "likely pathogenic" "ACMG" "0000459386" "0" "70" "15" "48766568" "48766568" "subst" "0" "03211" "FBN1_000571" "g.48766568T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48474371T>C" "present" "likely pathogenic" "ACMG" "0000459387" "0" "70" "15" "48766566" "48766566" "subst" "0" "03211" "FBN1_000569" "g.48766566C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48474369C>T" "present" "likely pathogenic" "ACMG" "0000459388" "0" "70" "15" "48766566" "48766566" "subst" "0.00000406293" "03211" "FBN1_000570" "g.48766566C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48474369C>G" "present" "likely pathogenic" "ACMG" "0000459389" "0" "50" "15" "48766556" "48766556" "subst" "0.00000812526" "03211" "FBN1_000568" "g.48766556T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48474359T>C" "present" "VUS" "ACMG" "0000459390" "0" "70" "15" "48766524" "48766524" "subst" "0" "03211" "FBN1_000567" "g.48766524A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48474327A>G" "present" "likely pathogenic" "ACMG" "0000459391" "0" "70" "15" "48766517" "48766517" "subst" "0" "03211" "FBN1_000566" "g.48766517T>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48474320T>A" "present" "likely pathogenic" "ACMG" "0000459392" "0" "70" "15" "48766516" "48766516" "subst" "0" "03211" "FBN1_000565" "g.48766516A>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48474319A>T" "present" "likely pathogenic" "ACMG" "0000459393" "0" "50" "15" "48766512" "48766512" "subst" "0.0000284403" "03211" "FBN1_000564" "g.48766512T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48474315T>C" "present" "VUS" "ACMG" "0000459394" "0" "70" "15" "48766503" "48766503" "subst" "0" "03211" "FBN1_000563" "g.48766503A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48474306A>C" "present" "likely pathogenic" "ACMG" "0000459395" "0" "70" "15" "48766502" "48766502" "subst" "0" "03211" "FBN1_000562" "g.48766502T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48474305T>C" "present" "likely pathogenic" "ACMG" "0000459396" "0" "70" "15" "48766497" "48766497" "subst" "0" "03211" "FBN1_000561" "g.48766497A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48474300A>C" "present" "likely pathogenic" "ACMG" "0000459397" "0" "70" "15" "48766496" "48766496" "subst" "0" "03211" "FBN1_000560" "g.48766496C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48474299C>G" "present" "likely pathogenic" "ACMG" "0000459398" "0" "70" "15" "48766452" "48766452" "subst" "0" "03211" "FBN1_000559" "g.48766452C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48474255C>T" "present" "likely pathogenic" "ACMG" "0000459399" "0" "50" "15" "48764870" "48764870" "subst" "0.000109664" "03211" "FBN1_000558" "g.48764870A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48472673A>C" "present" "VUS" "ACMG" "0000459400" "0" "90" "15" "48764862" "48764862" "subst" "0" "03211" "FBN1_000557" "g.48764862A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48472665A>G" "present" "pathogenic" "ACMG" "0000459401" "0" "70" "15" "48764832" "48764832" "subst" "0" "03211" "FBN1_000556" "g.48764832C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48472635C>A" "present" "likely pathogenic" "ACMG" "0000459402" "0" "70" "15" "48764825" "48764825" "subst" "0" "03211" "FBN1_000554" "g.48764825C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48472628C>T" "present" "likely pathogenic" "ACMG" "0000459403" "0" "70" "15" "48764825" "48764825" "subst" "0" "03211" "FBN1_000555" "g.48764825C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48472628C>A" "present" "likely pathogenic" "ACMG" "0000459404" "0" "70" "15" "48764819" "48764819" "subst" "0" "03211" "FBN1_000553" "g.48764819T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48472622T>C" "present" "likely pathogenic" "ACMG" "0000459405" "0" "50" "15" "48764814" "48764814" "subst" "0.00019497" "03211" "FBN1_000552" "g.48764814G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48472617G>C" "present" "VUS" "ACMG" "0000459406" "0" "30" "15" "48764778" "48764778" "subst" "0.000581065" "03211" "FBN1_000143" "g.48764778C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48472581C>T" "present" "likely benign" "ACMG" "0000459407" "0" "50" "15" "48764778" "48764778" "subst" "0.00000812678" "03211" "FBN1_000551" "g.48764778C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48472581C>A" "present" "VUS" "ACMG" "0000459408" "0" "30" "15" "48764771" "48764771" "subst" "0.0000243803" "03211" "FBN1_000550" "g.48764771C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48472574C>T" "present" "likely benign" "ACMG" "0000459409" "0" "30" "15" "48764768" "48764768" "subst" "0" "03211" "FBN1_000549" "g.48764768G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48472571G>A" "present" "likely benign" "ACMG" "0000459410" "0" "70" "15" "48764754" "48764754" "subst" "0" "03211" "FBN1_000548" "g.48764754A>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48472557A>T" "present" "likely pathogenic" "ACMG" "0000459411" "0" "70" "15" "48764753" "48764753" "subst" "0" "03211" "FBN1_000547" "g.48764753C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48472556C>T" "present" "likely pathogenic" "ACMG" "0000459412" "0" "70" "15" "48764748" "48764748" "subst" "0" "03211" "FBN1_000546" "g.48764748C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48472551C>T" "present" "likely pathogenic" "ACMG" "0000459413" "0" "70" "15" "48762953" "48762953" "subst" "0" "03211" "FBN1_000545" "g.48762953T>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48470756T>A" "present" "likely pathogenic" "ACMG" "0000459414" "0" "70" "15" "48762947" "48762947" "subst" "0" "03211" "FBN1_000544" "g.48762947T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48470750T>C" "present" "likely pathogenic" "ACMG" "0000459415" "0" "50" "15" "48762926" "48762926" "subst" "0.00000406425" "03211" "FBN1_000543" "g.48762926A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48470729A>C" "present" "VUS" "ACMG" "0000459416" "0" "70" "15" "48762923" "48762923" "subst" "0" "03211" "FBN1_000540" "g.48762923C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48470726C>T" "present" "likely pathogenic" "ACMG" "0000459417" "0" "70" "15" "48762923" "48762923" "subst" "0" "03211" "FBN1_000541" "g.48762923C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48470726C>G" "present" "likely pathogenic" "ACMG" "0000459418" "0" "70" "15" "48762923" "48762923" "subst" "0" "03211" "FBN1_000542" "g.48762923C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48470726C>A" "present" "likely pathogenic" "ACMG" "0000459419" "0" "70" "15" "48762908" "48762908" "subst" "0" "03211" "FBN1_000538" "g.48762908C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48470711C>G" "present" "likely pathogenic" "ACMG" "0000459420" "0" "70" "15" "48762908" "48762908" "subst" "0" "03211" "FBN1_000539" "g.48762908C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48470711C>A" "present" "likely pathogenic" "ACMG" "0000459421" "0" "70" "15" "48762885" "48762885" "subst" "0.00000812896" "03211" "FBN1_000537" "g.48762885G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48470688G>A" "present" "likely pathogenic" "ACMG" "0000459422" "0" "50" "15" "48762884" "48762884" "subst" "0" "03211" "FBN1_000536" "g.48762884C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48470687C>G" "present" "VUS" "ACMG" "0000459423" "0" "50" "15" "48762861" "48762861" "subst" "0" "03211" "FBN1_000535" "g.48762861C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48470664C>T" "present" "VUS" "ACMG" "0000459424" "0" "50" "15" "48762853" "48762853" "subst" "0.0000121939" "03211" "FBN1_000534" "g.48762853G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48470656G>C" "present" "VUS" "ACMG" "0000459425" "0" "30" "15" "48762849" "48762849" "subst" "0.000276387" "03211" "FBN1_000142" "g.48762849T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48470652T>C" "present" "likely benign" "ACMG" "0000459426" "0" "50" "15" "48762846" "48762846" "subst" "0.00000812929" "03211" "FBN1_000533" "g.48762846C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48470649C>T" "present" "VUS" "ACMG" "0000459427" "0" "50" "15" "48762843" "48762843" "subst" "0" "03211" "FBN1_000532" "g.48762843C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48470646C>T" "present" "VUS" "ACMG" "0000459428" "0" "70" "15" "48762837" "48762837" "subst" "0" "03211" "FBN1_000531" "g.48762837A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48470640A>G" "present" "likely pathogenic" "ACMG" "0000459429" "0" "70" "15" "48762836" "48762836" "subst" "0" "03211" "FBN1_000530" "g.48762836C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48470639C>G" "present" "likely pathogenic" "ACMG" "0000459430" "0" "70" "15" "48760725" "48760725" "subst" "0" "03211" "FBN1_000529" "g.48760725T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48468528T>C" "present" "likely pathogenic" "ACMG" "0000459431" "0" "70" "15" "48760724" "48760724" "subst" "0" "03211" "FBN1_000528" "g.48760724A>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48468527A>T" "present" "likely pathogenic" "ACMG" "0000459432" "0" "70" "15" "48760702" "48760702" "subst" "0" "03211" "FBN1_000527" "g.48760702A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48468505A>G" "present" "likely pathogenic" "ACMG" "0000459433" "0" "50" "15" "48760699" "48760699" "subst" "0.00000406736" "03211" "FBN1_000526" "g.48760699T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48468502T>C" "present" "VUS" "ACMG" "0000459434" "0" "70" "15" "48760686" "48760686" "subst" "0" "03211" "FBN1_000525" "g.48760686C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48468489C>T" "present" "likely pathogenic" "ACMG" "0000459435" "0" "50" "15" "48760675" "48760675" "subst" "0" "03211" "FBN1_000524" "g.48760675G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48468478G>A" "present" "VUS" "ACMG" "0000459436" "0" "70" "15" "48760671" "48760671" "subst" "0" "03211" "FBN1_000522" "g.48760671C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48468474C>T" "present" "likely pathogenic" "ACMG" "0000459437" "0" "70" "15" "48760671" "48760671" "subst" "0" "03211" "FBN1_000523" "g.48760671C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48468474C>A" "present" "likely pathogenic" "ACMG" "0000459438" "0" "70" "15" "48760665" "48760665" "subst" "0" "03211" "FBN1_000521" "g.48760665T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48468468T>C" "present" "likely pathogenic" "ACMG" "0000459439" "0" "70" "15" "48760660" "48760660" "subst" "0" "03211" "FBN1_000520" "g.48760660A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48468463A>G" "present" "likely pathogenic" "ACMG" "0000459440" "0" "70" "15" "48760659" "48760659" "subst" "0" "03211" "FBN1_000519" "g.48760659C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48468462C>T" "present" "likely pathogenic" "ACMG" "0000459441" "0" "50" "15" "48760630" "48760630" "subst" "0" "03211" "FBN1_000518" "g.48760630G>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48468433G>T" "present" "VUS" "ACMG" "0000459442" "0" "70" "15" "48760614" "48760614" "subst" "0" "03211" "FBN1_000517" "g.48760614C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48468417C>T" "present" "likely pathogenic" "ACMG" "0000459443" "0" "50" "15" "48760296" "48760296" "subst" "0" "03211" "FBN1_000516" "g.48760296G>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48468099G>T" "present" "VUS" "ACMG" "0000459444" "0" "90" "15" "48760294" "48760294" "subst" "0" "03211" "FBN1_000025" "g.48760294G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48468097G>A" "present" "pathogenic" "ACMG" "0000459445" "0" "30" "15" "48760242" "48760242" "subst" "0.0000284516" "03211" "FBN1_000515" "g.48760242G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48468045G>A" "present" "likely benign" "ACMG" "0000459446" "0" "70" "15" "48760234" "48760234" "subst" "0" "03211" "FBN1_000514" "g.48760234T>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48468037T>A" "present" "likely pathogenic" "ACMG" "0000459447" "0" "70" "15" "48760198" "48760198" "subst" "0" "03211" "FBN1_000513" "g.48760198A>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48468001A>T" "present" "likely pathogenic" "ACMG" "0000459448" "0" "70" "15" "48760194" "48760194" "subst" "0" "03211" "FBN1_000512" "g.48760194C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48467997C>G" "present" "likely pathogenic" "ACMG" "0000459449" "0" "90" "15" "48760191" "48760191" "subst" "0" "03211" "FBN1_000511" "g.48760191C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48467994C>G" "present" "pathogenic" "ACMG" "0000459450" "0" "90" "15" "48760172" "48760172" "subst" "0" "03211" "FBN1_000509" "g.48760172C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48467975C>G" "present" "pathogenic" "ACMG" "0000459451" "0" "90" "15" "48760172" "48760172" "subst" "0" "03211" "FBN1_000510" "g.48760172C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48467975C>A" "present" "pathogenic" "ACMG" "0000459452" "0" "30" "15" "48760155" "48760155" "subst" "0.000101612" "03211" "FBN1_000508" "g.48760155A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48467958A>G" "present" "likely benign" "ACMG" "0000459453" "0" "70" "15" "48760153" "48760153" "subst" "0" "03211" "FBN1_000507" "g.48760153A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48467956A>C" "present" "likely pathogenic" "ACMG" "0000459454" "0" "50" "15" "48760144" "48760144" "subst" "0.0000040656" "03211" "FBN1_000506" "g.48760144C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48467947C>T" "present" "VUS" "ACMG" "0000459455" "0" "30" "15" "48758053" "48758053" "subst" "0.000150627" "03211" "FBN1_000505" "g.48758053C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48465856C>T" "present" "likely benign" "ACMG" "0000459456" "0" "50" "15" "48758031" "48758031" "subst" "0.00000406623" "03211" "FBN1_000504" "g.48758031C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48465834C>T" "present" "VUS" "ACMG" "0000459457" "0" "50" "15" "48758022" "48758022" "subst" "0" "03211" "FBN1_000503" "g.48758022C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48465825C>T" "present" "VUS" "ACMG" "0000459458" "0" "70" "15" "48757771" "48757771" "subst" "0" "03211" "FBN1_000502" "g.48757771A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48465574A>C" "present" "likely pathogenic" "ACMG" "0000459459" "0" "70" "15" "48757770" "48757770" "subst" "0" "03211" "FBN1_000501" "g.48757770C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48465573C>T" "present" "likely pathogenic" "ACMG" "0000459460" "0" "70" "15" "48757765" "48757765" "subst" "0" "03211" "FBN1_000500" "g.48757765C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48465568C>T" "present" "likely pathogenic" "ACMG" "0000459461" "0" "70" "15" "48756210" "48756210" "subst" "0" "03211" "FBN1_000499" "g.48756210C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48464013C>T" "present" "likely pathogenic" "ACMG" "0000459462" "0" "70" "15" "48756206" "48756206" "subst" "0" "03211" "FBN1_000498" "g.48756206C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48464009C>T" "present" "likely pathogenic" "ACMG" "0000459463" "0" "50" "15" "48756176" "48756176" "subst" "0" "03211" "FBN1_000497" "g.48756176G>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48463979G>T" "present" "VUS" "ACMG" "0000459464" "0" "70" "15" "48756174" "48756174" "subst" "0" "03211" "FBN1_000496" "g.48756174A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48463977A>G" "present" "likely pathogenic" "ACMG" "0000459465" "0" "50" "15" "48756162" "48756162" "subst" "0.0000365892" "03211" "FBN1_000495" "g.48756162C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48463965C>T" "present" "VUS" "ACMG" "0000459466" "0" "70" "15" "48756146" "48756146" "subst" "0" "03211" "FBN1_000494" "g.48756146C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48463949C>T" "present" "likely pathogenic" "ACMG" "0000459467" "0" "70" "15" "48756140" "48756140" "subst" "0" "03211" "FBN1_000493" "g.48756140C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48463943C>A" "present" "likely pathogenic" "ACMG" "0000459468" "0" "70" "15" "48755416" "48755416" "subst" "0" "03211" "FBN1_000492" "g.48755416T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48463219T>C" "present" "likely pathogenic" "ACMG" "0000459469" "0" "70" "15" "48755407" "48755407" "subst" "0" "03211" "FBN1_000491" "g.48755407T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48463210T>C" "present" "likely pathogenic" "ACMG" "0000459470" "0" "70" "15" "48755404" "48755404" "subst" "0" "03211" "FBN1_000490" "g.48755404T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48463207T>C" "present" "likely pathogenic" "ACMG" "0000459471" "0" "50" "15" "48755361" "48755361" "subst" "0.0000162541" "03211" "FBN1_000489" "g.48755361C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48463164C>T" "present" "VUS" "ACMG" "0000459472" "0" "70" "15" "48755348" "48755348" "subst" "0" "03211" "FBN1_000488" "g.48755348A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48463151A>G" "present" "likely pathogenic" "ACMG" "0000459473" "0" "50" "15" "48755326" "48755326" "subst" "0" "03211" "FBN1_000487" "g.48755326C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48463129C>T" "present" "VUS" "ACMG" "0000459474" "0" "50" "15" "48755323" "48755323" "subst" "0.0000162602" "03211" "FBN1_000486" "g.48755323C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48463126C>T" "present" "VUS" "ACMG" "0000459475" "0" "70" "15" "48755321" "48755321" "subst" "0" "03211" "FBN1_000485" "g.48755321C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48463124C>T" "present" "likely pathogenic" "ACMG" "0000459476" "0" "70" "15" "48755320" "48755320" "subst" "0" "03211" "FBN1_000484" "g.48755320G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48463123G>A" "present" "likely pathogenic" "ACMG" "0000459477" "0" "70" "15" "48755306" "48755306" "subst" "0" "03211" "FBN1_000483" "g.48755306A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48463109A>C" "present" "likely pathogenic" "ACMG" "0000459478" "0" "70" "15" "48755296" "48755296" "subst" "0" "03211" "FBN1_000482" "g.48755296C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48463099C>T" "present" "likely pathogenic" "ACMG" "0000459479" "0" "70" "15" "48752455" "48752455" "subst" "0" "03211" "FBN1_000481" "g.48752455C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48460258C>T" "present" "likely pathogenic" "ACMG" "0000459480" "0" "50" "15" "48752454" "48752454" "subst" "0" "03211" "FBN1_000480" "g.48752454C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48460257C>A" "present" "VUS" "ACMG" "0000459481" "0" "70" "15" "48748926" "48748926" "subst" "0" "03211" "FBN1_000479" "g.48748926C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48456729C>T" "present" "likely pathogenic" "ACMG" "0000459482" "0" "70" "15" "48748884" "48748884" "subst" "0" "03211" "FBN1_000478" "g.48748884C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48456687C>T" "present" "likely pathogenic" "ACMG" "0000459483" "0" "50" "15" "48748851" "48748851" "subst" "0" "03211" "FBN1_000477" "g.48748851T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48456654T>C" "present" "VUS" "ACMG" "0000459484" "0" "50" "15" "48748843" "48748843" "subst" "0.00000406501" "03211" "FBN1_000476" "g.48748843C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48456646C>T" "present" "VUS" "ACMG" "0000459485" "0" "70" "15" "48744873" "48744873" "subst" "0.00000406593" "03211" "FBN1_000475" "g.48744873C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48452676C>T" "present" "likely pathogenic" "ACMG" "0000459486" "0" "50" "15" "48744861" "48744861" "subst" "0.0000162623" "03211" "FBN1_000474" "g.48744861C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48452664C>T" "present" "VUS" "ACMG" "0000459487" "0" "70" "15" "48744834" "48744834" "subst" "0" "03211" "FBN1_000473" "g.48744834A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48452637A>G" "present" "likely pathogenic" "ACMG" "0000459488" "0" "50" "15" "48744809" "48744809" "subst" "0.00000406524" "03211" "FBN1_000472" "g.48744809C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48452612C>T" "present" "VUS" "ACMG" "0000459489" "0" "70" "15" "48744800" "48744800" "subst" "0" "03211" "FBN1_000470" "g.48744800C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48452603C>T" "present" "likely pathogenic" "ACMG" "0000459490" "0" "70" "15" "48744800" "48744800" "subst" "0" "03211" "FBN1_000471" "g.48744800C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48452603C>G" "present" "likely pathogenic" "ACMG" "0000459491" "0" "50" "15" "48744795" "48744795" "subst" "0.00000812975" "03211" "FBN1_000469" "g.48744795G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48452598G>A" "present" "VUS" "ACMG" "0000459492" "0" "70" "15" "48744792" "48744792" "subst" "0" "03211" "FBN1_000468" "g.48744792C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48452595C>A" "present" "likely pathogenic" "ACMG" "0000459493" "0" "50" "15" "48744791" "48744791" "subst" "0" "03211" "FBN1_000467" "g.48744791C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48452594C>T" "present" "VUS" "ACMG" "0000459494" "0" "50" "15" "48744788" "48744788" "subst" "0.0000243896" "03211" "FBN1_000466" "g.48744788T>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48452591T>A" "present" "VUS" "ACMG" "0000459495" "0" "70" "15" "48741084" "48741084" "subst" "0" "03211" "FBN1_000465" "g.48741084T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48448887T>C" "present" "likely pathogenic" "ACMG" "0000459496" "0" "70" "15" "48741081" "48741081" "subst" "0" "03211" "FBN1_000464" "g.48741081T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48448884T>C" "present" "likely pathogenic" "ACMG" "0000459497" "0" "30" "15" "48741063" "48741063" "subst" "0.0000570037" "03211" "FBN1_000463" "g.48741063T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48448866T>C" "present" "likely benign" "ACMG" "0000459498" "0" "50" "15" "48741054" "48741054" "subst" "0.0000162841" "03211" "FBN1_000462" "g.48741054C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48448857C>T" "present" "VUS" "ACMG" "0000459499" "0" "70" "15" "48741049" "48741049" "subst" "0" "03211" "FBN1_000461" "g.48741049C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48448852C>T" "present" "likely pathogenic" "ACMG" "0000459500" "0" "70" "15" "48741048" "48741048" "subst" "0" "03211" "FBN1_000460" "g.48741048C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48448851C>T" "present" "likely pathogenic" "ACMG" "0000459501" "0" "70" "15" "48741009" "48741009" "subst" "0" "03211" "FBN1_000459" "g.48741009C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48448812C>T" "present" "likely pathogenic" "ACMG" "0000459502" "0" "70" "15" "48740998" "48740998" "subst" "0" "03211" "FBN1_000458" "g.48740998A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48448801A>C" "present" "likely pathogenic" "ACMG" "0000459503" "0" "50" "15" "48740972" "48740972" "subst" "0" "03211" "FBN1_000457" "g.48740972C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48448775C>T" "present" "VUS" "ACMG" "0000459504" "0" "70" "15" "48740965" "48740965" "subst" "0" "03211" "FBN1_000456" "g.48740965C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48448768C>G" "present" "likely pathogenic" "ACMG" "0000459505" "0" "50" "15" "48739011" "48739011" "subst" "0" "03211" "FBN1_000455" "g.48739011C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48446814C>T" "present" "VUS" "ACMG" "0000459506" "0" "70" "15" "48739008" "48739008" "subst" "0" "03211" "FBN1_000454" "g.48739008A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48446811A>G" "present" "likely pathogenic" "ACMG" "0000459507" "0" "90" "15" "48738992" "48738992" "subst" "0" "03211" "FBN1_000453" "g.48738992C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48446795C>T" "present" "pathogenic" "ACMG" "0000459508" "0" "50" "15" "48738972" "48738972" "subst" "0" "03211" "FBN1_000452" "g.48738972T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48446775T>C" "present" "VUS" "ACMG" "0000459509" "0" "50" "15" "48738971" "48738971" "subst" "0" "03211" "FBN1_000451" "g.48738971T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48446774T>C" "present" "VUS" "ACMG" "0000459510" "0" "70" "15" "48738970" "48738970" "subst" "0" "03211" "FBN1_000450" "g.48738970G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48446773G>C" "present" "likely pathogenic" "ACMG" "0000459511" "0" "50" "15" "48738966" "48738966" "subst" "0" "03211" "FBN1_000449" "g.48738966T>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48446769T>G" "present" "VUS" "ACMG" "0000459512" "0" "50" "15" "48738965" "48738965" "subst" "0" "03211" "FBN1_000448" "g.48738965A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48446768A>G" "present" "VUS" "ACMG" "0000459513" "0" "70" "15" "48738945" "48738945" "subst" "0" "03211" "FBN1_000447" "g.48738945A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48446748A>G" "present" "likely pathogenic" "ACMG" "0000459514" "0" "70" "15" "48738944" "48738944" "subst" "0" "03211" "FBN1_000446" "g.48738944C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48446747C>T" "present" "likely pathogenic" "ACMG" "0000459515" "0" "50" "15" "48738924" "48738924" "subst" "0" "03211" "FBN1_000445" "g.48738924A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48446727A>G" "present" "VUS" "ACMG" "0000459516" "0" "50" "15" "48738915" "48738915" "subst" "0" "03211" "FBN1_000128" "g.48738915T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48446718T>C" "present" "VUS" "ACMG" "0000459517" "0" "70" "15" "48738908" "48738908" "subst" "0" "03211" "FBN1_000443" "g.48738908C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48446711C>T" "present" "likely pathogenic" "ACMG" "0000459518" "0" "70" "15" "48738908" "48738908" "subst" "0" "03211" "FBN1_000444" "g.48738908C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48446711C>A" "present" "likely pathogenic" "ACMG" "0000459519" "0" "70" "15" "48737689" "48737689" "subst" "0" "03211" "FBN1_000442" "g.48737689C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48445492C>T" "present" "likely pathogenic" "ACMG" "0000459520" "0" "50" "15" "48737684" "48737684" "subst" "0" "03211" "FBN1_000441" "g.48737684T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48445487T>C" "present" "VUS" "ACMG" "0000459521" "0" "70" "15" "48737665" "48737665" "subst" "0" "03211" "FBN1_000439" "g.48737665C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48445468C>G" "present" "likely pathogenic" "ACMG" "0000459522" "0" "70" "15" "48737665" "48737665" "subst" "0" "03211" "FBN1_000440" "g.48737665C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48445468C>A" "present" "likely pathogenic" "ACMG" "0000459523" "0" "70" "15" "48737651" "48737651" "subst" "0" "03211" "FBN1_000438" "g.48737651A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48445454A>G" "present" "likely pathogenic" "ACMG" "0000459524" "0" "70" "15" "48737650" "48737650" "subst" "0" "03211" "FBN1_000437" "g.48737650C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48445453C>T" "present" "likely pathogenic" "ACMG" "0000459525" "0" "70" "15" "48737629" "48737629" "subst" "0" "03211" "FBN1_000436" "g.48737629A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48445432A>C" "present" "likely pathogenic" "ACMG" "0000459526" "0" "70" "15" "48736857" "48736857" "subst" "0" "03211" "FBN1_000435" "g.48736857T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48444660T>C" "present" "likely pathogenic" "ACMG" "0000459527" "0" "50" "15" "48736854" "48736854" "subst" "0.0000162843" "03211" "FBN1_000434" "g.48736854A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48444657A>G" "present" "VUS" "ACMG" "0000459528" "0" "70" "15" "48736816" "48736816" "subst" "0" "03211" "FBN1_000433" "g.48736816C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48444619C>G" "present" "likely pathogenic" "ACMG" "0000459529" "0" "70" "15" "48736804" "48736804" "subst" "0" "03211" "FBN1_000432" "g.48736804T>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48444607T>A" "present" "likely pathogenic" "ACMG" "0000459530" "0" "70" "15" "48736782" "48736782" "subst" "0" "03211" "FBN1_000431" "g.48736782C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48444585C>T" "present" "likely pathogenic" "ACMG" "0000459531" "0" "50" "15" "48736771" "48736771" "subst" "0" "03211" "FBN1_000430" "g.48736771G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48444574G>A" "present" "VUS" "ACMG" "0000459532" "0" "50" "15" "48736750" "48736750" "subst" "0.0000040664" "03211" "FBN1_000429" "g.48736750C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48444553C>T" "present" "VUS" "ACMG" "0000459533" "0" "70" "15" "48736743" "48736743" "subst" "0" "03211" "FBN1_000428" "g.48736743C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48444546C>T" "present" "likely pathogenic" "ACMG" "0000459534" "0" "70" "15" "48734043" "48734043" "subst" "0" "03211" "FBN1_000427" "g.48734043T>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48441846T>A" "present" "likely pathogenic" "ACMG" "0000459535" "0" "50" "15" "48734038" "48734038" "subst" "0.00000408033" "03211" "FBN1_000426" "g.48734038C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48441841C>T" "present" "VUS" "ACMG" "0000459536" "0" "30" "15" "48734029" "48734029" "subst" "0.000199724" "03211" "FBN1_000425" "g.48734029C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48441832C>T" "present" "likely benign" "ACMG" "0000459537" "0" "50" "15" "48734013" "48734013" "subst" "0" "03211" "FBN1_000424" "g.48734013A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48441816A>G" "present" "VUS" "ACMG" "0000459538" "0" "10" "15" "48734008" "48734008" "subst" "0.00031759" "03211" "FBN1_000123" "g.48734008C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48441811C>A" "present" "benign" "ACMG" "0000459539" "0" "70" "15" "48734001" "48734001" "subst" "0" "03211" "FBN1_000423" "g.48734001C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48441804C>A" "present" "likely pathogenic" "ACMG" "0000459540" "0" "70" "15" "48733995" "48733995" "subst" "0" "03211" "FBN1_000422" "g.48733995C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48441798C>T" "present" "likely pathogenic" "ACMG" "0000459541" "0" "50" "15" "48733986" "48733986" "subst" "0.00000813875" "03211" "FBN1_000421" "g.48733986G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48441789G>C" "present" "VUS" "ACMG" "0000459542" "0" "70" "15" "48733969" "48733969" "subst" "0" "03211" "FBN1_000420" "g.48733969A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48441772A>C" "present" "likely pathogenic" "ACMG" "0000459543" "0" "70" "15" "48733968" "48733968" "subst" "0" "03211" "FBN1_000419" "g.48733968C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48441771C>T" "present" "likely pathogenic" "ACMG" "0000459544" "0" "70" "15" "48733962" "48733962" "subst" "0" "03211" "FBN1_000418" "g.48733962C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48441765C>T" "present" "likely pathogenic" "ACMG" "0000459545" "0" "50" "15" "48733941" "48733941" "subst" "0" "03211" "FBN1_000417" "g.48733941G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48441744G>A" "present" "VUS" "ACMG" "0000459546" "0" "50" "15" "48730091" "48730091" "subst" "0.00000406679" "03211" "FBN1_000416" "g.48730091C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437894C>T" "present" "VUS" "ACMG" "0000459547" "0" "70" "15" "48730069" "48730069" "subst" "0" "03211" "FBN1_000415" "g.48730069C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437872C>A" "present" "likely pathogenic" "ACMG" "0000459548" "0" "70" "15" "48730027" "48730027" "subst" "0" "03211" "FBN1_000414" "g.48730027C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437830C>A" "present" "likely pathogenic" "ACMG" "0000459549" "0" "50" "15" "48730014" "48730014" "subst" "0" "03211" "FBN1_000413" "g.48730014C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437817C>G" "present" "VUS" "ACMG" "0000459550" "0" "50" "15" "48730006" "48730006" "subst" "0" "03211" "FBN1_000412" "g.48730006C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437809C>T" "present" "VUS" "ACMG" "0000459551" "0" "50" "15" "48730004" "48730004" "subst" "0" "03211" "FBN1_000411" "g.48730004A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437807A>G" "present" "VUS" "ACMG" "0000459552" "0" "50" "15" "48730001" "48730001" "subst" "0" "03211" "FBN1_000410" "g.48730001C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437804C>T" "present" "VUS" "ACMG" "0000459553" "0" "70" "15" "48729982" "48729982" "subst" "0" "03211" "FBN1_000409" "g.48729982C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437785C>A" "present" "likely pathogenic" "ACMG" "0000459554" "0" "50" "15" "48729979" "48729979" "subst" "0" "03211" "FBN1_000408" "g.48729979G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437782G>A" "present" "VUS" "ACMG" "0000459555" "0" "30" "15" "48729976" "48729976" "subst" "0.000211835" "03211" "FBN1_000121" "g.48729976G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437779G>A" "present" "likely benign" "ACMG" "0000459556" "0" "50" "15" "48729965" "48729965" "subst" "0" "03211" "FBN1_000407" "g.48729965C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437768C>G" "present" "VUS" "ACMG" "0000459557" "0" "70" "15" "48729566" "48729566" "subst" "0" "03211" "FBN1_000406" "g.48729566C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437369C>T" "present" "likely pathogenic" "ACMG" "0000459558" "0" "50" "15" "48729544" "48729544" "subst" "0" "03211" "FBN1_000405" "g.48729544G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437347G>C" "present" "VUS" "ACMG" "0000459559" "0" "50" "15" "48729543" "48729543" "subst" "0" "03211" "FBN1_000404" "g.48729543C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437346C>T" "present" "VUS" "ACMG" "0000459560" "0" "70" "15" "48729269" "48729269" "subst" "0" "03211" "FBN1_000403" "g.48729269C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437072C>A" "present" "likely pathogenic" "ACMG" "0000459561" "0" "70" "15" "48729266" "48729266" "subst" "0" "03211" "FBN1_000402" "g.48729266C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437069C>T" "present" "likely pathogenic" "ACMG" "0000459562" "0" "70" "15" "48729251" "48729251" "subst" "0.0000040712" "03211" "FBN1_000401" "g.48729251C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437054C>T" "present" "likely pathogenic" "ACMG" "0000459563" "0" "50" "15" "48729238" "48729238" "subst" "0.00000813961" "03211" "FBN1_000400" "g.48729238T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437041T>C" "present" "VUS" "ACMG" "0000459564" "0" "70" "15" "48729236" "48729236" "subst" "0" "03211" "FBN1_000399" "g.48729236C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437039C>T" "present" "likely pathogenic" "ACMG" "0000459565" "0" "70" "15" "48729235" "48729235" "subst" "0" "03211" "FBN1_000398" "g.48729235C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437038C>T" "present" "likely pathogenic" "ACMG" "0000459566" "0" "70" "15" "48729229" "48729229" "subst" "0" "03211" "FBN1_000397" "g.48729229C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437032C>T" "present" "likely pathogenic" "ACMG" "0000459567" "0" "70" "15" "48729224" "48729224" "subst" "0" "03211" "FBN1_000396" "g.48729224T>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437027T>G" "present" "likely pathogenic" "ACMG" "0000459568" "0" "90" "15" "48729223" "48729223" "subst" "0" "03211" "FBN1_000395" "g.48729223T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437026T>C" "present" "pathogenic" "ACMG" "0000459569" "0" "70" "15" "48729208" "48729208" "subst" "0" "03211" "FBN1_000394" "g.48729208T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437011T>C" "present" "likely pathogenic" "ACMG" "0000459570" "0" "70" "15" "48729206" "48729206" "subst" "0.0000081369" "03211" "FBN1_000393" "g.48729206G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437009G>A" "present" "likely pathogenic" "ACMG" "0000459571" "0" "50" "15" "48729205" "48729205" "subst" "0" "03211" "FBN1_000392" "g.48729205C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437008C>A" "present" "VUS" "ACMG" "0000459572" "0" "70" "15" "48729201" "48729201" "subst" "0" "03211" "FBN1_000391" "g.48729201G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48437004G>C" "present" "likely pathogenic" "ACMG" "0000459573" "0" "50" "15" "48729158" "48729158" "subst" "0" "03211" "FBN1_000388" "g.48729158C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48436961C>T" "present" "VUS" "ACMG" "0000459574" "0" "70" "15" "48729158" "48729158" "subst" "0" "03211" "FBN1_000389" "g.48729158C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48436961C>G" "present" "likely pathogenic" "ACMG" "0000459575" "0" "70" "15" "48729158" "48729158" "subst" "0" "03211" "FBN1_000390" "g.48729158C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48436961C>A" "present" "likely pathogenic" "ACMG" "0000459576" "0" "70" "15" "48726908" "48726908" "subst" "0" "03211" "FBN1_000387" "g.48726908T>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48434711T>G" "present" "likely pathogenic" "ACMG" "0000459577" "0" "70" "15" "48726898" "48726898" "subst" "0" "03211" "FBN1_000386" "g.48726898C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48434701C>T" "present" "likely pathogenic" "ACMG" "0000459578" "0" "70" "15" "48726866" "48726866" "subst" "0" "03211" "FBN1_000385" "g.48726866A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48434669A>G" "present" "likely pathogenic" "ACMG" "0000459579" "0" "70" "15" "48726831" "48726831" "subst" "0" "03211" "FBN1_000384" "g.48726831G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48434634G>C" "present" "likely pathogenic" "ACMG" "0000459580" "0" "30" "15" "48726830" "48726830" "subst" "0.0000162612" "03211" "FBN1_000383" "g.48726830C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48434633C>T" "present" "likely benign" "ACMG" "0000459581" "0" "50" "15" "48726824" "48726824" "subst" "0" "03211" "FBN1_000382" "g.48726824C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48434627C>T" "present" "VUS" "ACMG" "0000459582" "0" "70" "15" "48726796" "48726796" "subst" "0" "03211" "FBN1_000381" "g.48726796C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48434599C>T" "present" "likely pathogenic" "ACMG" "0000459583" "0" "70" "15" "48726791" "48726791" "subst" "0" "03211" "FBN1_000380" "g.48726791C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48434594C>T" "present" "likely pathogenic" "ACMG" "0000459584" "0" "70" "15" "48725176" "48725176" "subst" "0" "03211" "FBN1_000379" "g.48725176T>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48432979T>G" "present" "likely pathogenic" "ACMG" "0000459585" "0" "70" "15" "48725174" "48725174" "subst" "0" "03211" "FBN1_000378" "g.48725174A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48432977A>G" "present" "likely pathogenic" "ACMG" "0000459586" "0" "70" "15" "48725172" "48725172" "subst" "0" "03211" "FBN1_000377" "g.48725172A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48432975A>C" "present" "likely pathogenic" "ACMG" "0000459587" "0" "70" "15" "48725152" "48725152" "subst" "0" "03211" "FBN1_000376" "g.48725152C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48432955C>T" "present" "likely pathogenic" "ACMG" "0000459588" "0" "50" "15" "48725146" "48725146" "subst" "0" "03211" "FBN1_000374" "g.48725146A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48432949A>G" "present" "VUS" "ACMG" "0000459589" "0" "70" "15" "48725146" "48725146" "subst" "0" "03211" "FBN1_000375" "g.48725146A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48432949A>C" "present" "likely pathogenic" "ACMG" "0000459590" "0" "70" "15" "48725141" "48725141" "subst" "0" "03211" "FBN1_000373" "g.48725141A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48432944A>G" "present" "likely pathogenic" "ACMG" "0000459591" "0" "70" "15" "48725140" "48725140" "subst" "0" "03211" "FBN1_000372" "g.48725140C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48432943C>G" "present" "likely pathogenic" "ACMG" "0000459592" "0" "70" "15" "48725119" "48725119" "subst" "0" "03211" "FBN1_000371" "g.48725119T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48432922T>C" "present" "likely pathogenic" "ACMG" "0000459593" "0" "70" "15" "48725112" "48725112" "subst" "0" "03211" "FBN1_000370" "g.48725112G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48432915G>C" "present" "likely pathogenic" "ACMG" "0000459594" "0" "70" "15" "48725108" "48725108" "subst" "0" "03211" "FBN1_000369" "g.48725108A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48432911A>G" "present" "likely pathogenic" "ACMG" "0000459595" "0" "70" "15" "48725107" "48725107" "subst" "0" "03211" "FBN1_000368" "g.48725107C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48432910C>T" "present" "likely pathogenic" "ACMG" "0000459596" "0" "50" "15" "48725105" "48725105" "subst" "0" "03211" "FBN1_000367" "g.48725105G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48432908G>A" "present" "VUS" "ACMG" "0000459597" "0" "30" "15" "48725102" "48725102" "subst" "0.000785223" "03211" "FBN1_000060" "g.48725102C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48432905C>T" "present" "likely benign" "ACMG" "0000459598" "0" "70" "15" "48725095" "48725095" "subst" "0" "03211" "FBN1_000365" "g.48725095T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48432898T>C" "present" "likely pathogenic" "ACMG" "0000459599" "0" "50" "15" "48725095" "48725095" "subst" "0.00000406855" "03211" "FBN1_000366" "g.48725095T>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48432898T>A" "present" "VUS" "ACMG" "0000459600" "0" "70" "15" "48725078" "48725078" "subst" "0.0000122088" "03211" "FBN1_000110" "g.48725078G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48432881G>A" "present" "likely pathogenic" "ACMG" "0000459601" "0" "70" "15" "48722999" "48722999" "subst" "0" "03211" "FBN1_000364" "g.48722999T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48430802T>C" "present" "likely pathogenic" "ACMG" "0000459602" "0" "70" "15" "48722993" "48722993" "subst" "0" "03211" "FBN1_000363" "g.48722993T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48430796T>C" "present" "likely pathogenic" "ACMG" "0000459603" "0" "70" "15" "48722987" "48722987" "subst" "0" "03211" "FBN1_000362" "g.48722987C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48430790C>T" "present" "likely pathogenic" "ACMG" "0000459604" "0" "70" "15" "48722967" "48722967" "subst" "0" "03211" "FBN1_000361" "g.48722967A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48430770A>G" "present" "likely pathogenic" "ACMG" "0000459605" "0" "70" "15" "48722966" "48722966" "subst" "0" "03211" "FBN1_000360" "g.48722966C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48430769C>T" "present" "likely pathogenic" "ACMG" "0000459606" "0" "70" "15" "48722946" "48722946" "subst" "0" "03211" "FBN1_000359" "g.48722946A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48430749A>C" "present" "likely pathogenic" "ACMG" "0000459607" "0" "70" "15" "48722945" "48722945" "subst" "0" "03211" "FBN1_000358" "g.48722945C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48430748C>T" "present" "likely pathogenic" "ACMG" "0000459608" "0" "70" "15" "48722939" "48722939" "subst" "0" "03211" "FBN1_000357" "g.48722939T>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48430742T>A" "present" "likely pathogenic" "ACMG" "0000459609" "0" "90" "15" "48722933" "48722933" "subst" "0" "03211" "FBN1_000356" "g.48722933A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48430736A>G" "present" "pathogenic" "ACMG" "0000459610" "0" "70" "15" "48722931" "48722931" "subst" "0" "03211" "FBN1_000355" "g.48722931C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48430734C>A" "present" "likely pathogenic" "ACMG" "0000459611" "0" "70" "15" "48722919" "48722919" "subst" "0" "03211" "FBN1_000354" "g.48722919A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48430722A>G" "present" "likely pathogenic" "ACMG" "0000459612" "0" "30" "15" "48722907" "48722907" "subst" "0.000105669" "03211" "FBN1_000353" "g.48722907G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48430710G>C" "present" "likely benign" "ACMG" "0000459613" "0" "30" "15" "48722907" "48722907" "subst" "0.00252386" "03211" "FBN1_000108" "g.48722907G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48430710G>A" "present" "likely benign" "ACMG" "0000459614" "0" "70" "15" "48722874" "48722874" "subst" "0" "03211" "FBN1_000352" "g.48722874A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48430677A>G" "present" "likely pathogenic" "ACMG" "0000459615" "0" "70" "15" "48722868" "48722868" "subst" "0" "03211" "FBN1_000351" "g.48722868C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48430671C>T" "present" "likely pathogenic" "ACMG" "0000459616" "0" "70" "15" "48720656" "48720656" "subst" "0" "03211" "FBN1_000350" "g.48720656C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48428459C>T" "present" "likely pathogenic" "ACMG" "0000459617" "0" "70" "15" "48720636" "48720636" "subst" "0" "03211" "FBN1_000349" "g.48720636A>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48428439A>T" "present" "likely pathogenic" "ACMG" "0000459618" "0" "50" "15" "48720623" "48720623" "subst" "0.0000162583" "03211" "FBN1_000348" "g.48720623C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48428426C>T" "present" "VUS" "ACMG" "0000459619" "0" "70" "15" "48720620" "48720620" "subst" "0" "03211" "FBN1_000346" "g.48720620C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48428423C>T" "present" "likely pathogenic" "ACMG" "0000459620" "0" "70" "15" "48720620" "48720620" "subst" "0" "03211" "FBN1_000347" "g.48720620C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48428423C>G" "present" "likely pathogenic" "ACMG" "0000459621" "0" "50" "15" "48720617" "48720617" "subst" "0" "03211" "FBN1_000345" "g.48720617A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48428420A>G" "present" "VUS" "ACMG" "0000459622" "0" "30" "15" "48720608" "48720608" "subst" "0.0000203239" "03211" "FBN1_000344" "g.48720608C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48428411C>T" "present" "likely benign" "ACMG" "0000459623" "0" "70" "15" "48720599" "48720599" "subst" "0" "03211" "FBN1_000343" "g.48720599T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48428402T>C" "present" "likely pathogenic" "ACMG" "0000459624" "0" "50" "15" "48720581" "48720581" "subst" "0" "03211" "FBN1_000342" "g.48720581T>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48428384T>A" "present" "VUS" "ACMG" "0000459625" "0" "50" "15" "48720570" "48720570" "subst" "0.00000813041" "03211" "FBN1_000341" "g.48720570C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48428373C>T" "present" "VUS" "ACMG" "0000459626" "0" "30" "15" "48720553" "48720553" "subst" "0.000654546" "03211" "FBN1_000106" "g.48720553G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48428356G>C" "present" "likely benign" "ACMG" "0000459627" "0" "70" "15" "48720549" "48720549" "subst" "0" "03211" "FBN1_000340" "g.48720549A>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48428352A>T" "present" "likely pathogenic" "ACMG" "0000459628" "0" "70" "15" "48720548" "48720548" "subst" "0" "03211" "FBN1_000339" "g.48720548C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48428351C>T" "present" "likely pathogenic" "ACMG" "0000459629" "0" "50" "15" "48719920" "48719920" "subst" "0" "03211" "FBN1_000338" "g.48719920T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48427723T>C" "present" "VUS" "ACMG" "0000459630" "0" "50" "15" "48719917" "48719917" "subst" "0.0000162878" "03211" "FBN1_000337" "g.48719917C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48427720C>T" "present" "VUS" "ACMG" "0000459631" "0" "50" "15" "48719911" "48719911" "subst" "0" "03211" "FBN1_000336" "g.48719911T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48427714T>C" "present" "VUS" "ACMG" "0000459632" "0" "50" "15" "48719901" "48719901" "subst" "0" "03211" "FBN1_000335" "g.48719901T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48427704T>C" "present" "VUS" "ACMG" "0000459633" "0" "30" "15" "48719896" "48719896" "subst" "0.000191399" "03211" "FBN1_000334" "g.48719896C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48427699C>T" "present" "likely benign" "ACMG" "0000459634" "0" "50" "15" "48719886" "48719886" "subst" "0" "03211" "FBN1_000332" "g.48719886G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48427689G>C" "present" "VUS" "ACMG" "0000459635" "0" "50" "15" "48719886" "48719886" "subst" "0.00000814531" "03211" "FBN1_000333" "g.48719886G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48427689G>A" "present" "VUS" "ACMG" "0000459636" "0" "70" "15" "48719874" "48719874" "subst" "0" "03211" "FBN1_000331" "g.48719874C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48427677C>T" "present" "likely pathogenic" "ACMG" "0000459637" "0" "50" "15" "48719857" "48719857" "subst" "0" "03211" "FBN1_000330" "g.48719857A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48427660A>G" "present" "VUS" "ACMG" "0000459638" "0" "70" "15" "48719855" "48719855" "subst" "0" "03211" "FBN1_000329" "g.48719855C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48427658C>A" "present" "likely pathogenic" "ACMG" "0000459639" "0" "50" "15" "48719847" "48719847" "subst" "0" "03211" "FBN1_000328" "g.48719847T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48427650T>C" "present" "VUS" "ACMG" "0000459640" "0" "70" "15" "48719836" "48719836" "subst" "0" "03211" "FBN1_000327" "g.48719836A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48427639A>G" "present" "likely pathogenic" "ACMG" "0000459641" "0" "70" "15" "48719800" "48719800" "subst" "0" "03211" "FBN1_000326" "g.48719800A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48427603A>G" "present" "likely pathogenic" "ACMG" "0000459642" "0" "70" "15" "48719799" "48719799" "subst" "0" "03211" "FBN1_000325" "g.48719799C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48427602C>T" "present" "likely pathogenic" "ACMG" "0000459643" "0" "50" "15" "48719784" "48719784" "subst" "0" "03211" "FBN1_000324" "g.48719784C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48427587C>A" "present" "VUS" "ACMG" "0000459644" "0" "70" "15" "48719764" "48719764" "subst" "0" "03211" "FBN1_000323" "g.48719764C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48427567C>G" "present" "likely pathogenic" "ACMG" "0000459645" "0" "70" "15" "48718049" "48718049" "subst" "0" "03211" "FBN1_000322" "g.48718049C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48425852C>T" "present" "likely pathogenic" "ACMG" "0000459646" "0" "50" "15" "48718037" "48718037" "subst" "0" "03211" "FBN1_000321" "g.48718037T>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48425840T>G" "present" "VUS" "ACMG" "0000459647" "0" "50" "15" "48718031" "48718031" "subst" "0" "03211" "FBN1_000320" "g.48718031A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48425834A>G" "present" "VUS" "ACMG" "0000459648" "0" "50" "15" "48718025" "48718025" "subst" "0.0000325219" "03211" "FBN1_000319" "g.48718025C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48425828C>T" "present" "VUS" "ACMG" "0000459649" "0" "70" "15" "48718020" "48718020" "subst" "0" "03211" "FBN1_000318" "g.48718020C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48425823C>T" "present" "likely pathogenic" "ACMG" "0000459650" "0" "70" "15" "48718013" "48718013" "subst" "0" "03211" "FBN1_000317" "g.48718013C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48425816C>T" "present" "likely pathogenic" "ACMG" "0000459651" "0" "70" "15" "48717992" "48717992" "subst" "0" "03211" "FBN1_000316" "g.48717992T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48425795T>C" "present" "likely pathogenic" "ACMG" "0000459652" "0" "70" "15" "48717688" "48717688" "subst" "0" "03211" "FBN1_000315" "g.48717688T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48425491T>C" "present" "likely pathogenic" "ACMG" "0000459653" "0" "90" "15" "48717680" "48717680" "subst" "0" "03211" "FBN1_000314" "g.48717680C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48425483C>T" "present" "pathogenic" "ACMG" "0000459654" "0" "30" "15" "48717673" "48717673" "subst" "0.0000935598" "03211" "FBN1_000101" "g.48717673T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48425476T>C" "present" "likely benign" "ACMG" "0000459655" "0" "70" "15" "48717656" "48717656" "subst" "0" "03211" "FBN1_000313" "g.48717656A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48425459A>G" "present" "likely pathogenic" "ACMG" "0000459656" "0" "30" "15" "48717640" "48717640" "subst" "0.0000650264" "03211" "FBN1_000100" "g.48717640T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48425443T>C" "present" "likely benign" "ACMG" "0000459657" "0" "70" "15" "48717637" "48717637" "subst" "0" "03211" "FBN1_000312" "g.48717637T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48425440T>C" "present" "likely pathogenic" "ACMG" "0000459658" "0" "70" "15" "48717636" "48717636" "subst" "0.00000406445" "03211" "FBN1_000311" "g.48717636G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48425439G>C" "present" "likely pathogenic" "ACMG" "0000459659" "0" "70" "15" "48717622" "48717622" "subst" "0" "03211" "FBN1_000310" "g.48717622T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48425425T>C" "present" "likely pathogenic" "ACMG" "0000459660" "0" "70" "15" "48717617" "48717617" "subst" "0" "03211" "FBN1_000309" "g.48717617A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48425420A>G" "present" "likely pathogenic" "ACMG" "0000459661" "0" "50" "15" "48717607" "48717607" "subst" "0.0000203148" "03211" "FBN1_000099" "g.48717607G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48425410G>C" "present" "VUS" "ACMG" "0000459662" "0" "70" "15" "48717598" "48717598" "subst" "0" "03211" "FBN1_000308" "g.48717598T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48425401T>C" "present" "likely pathogenic" "ACMG" "0000459663" "0" "50" "15" "48717589" "48717589" "subst" "0.0000121864" "03211" "FBN1_000307" "g.48717589T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48425392T>C" "present" "VUS" "ACMG" "0000459664" "0" "70" "15" "48714265" "48714265" "subst" "0" "03211" "FBN1_000306" "g.48714265T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48422068T>C" "present" "likely pathogenic" "ACMG" "0000459665" "0" "70" "15" "48714254" "48714254" "subst" "0" "03211" "FBN1_000305" "g.48714254A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48422057A>G" "present" "likely pathogenic" "ACMG" "0000459666" "0" "70" "15" "48714253" "48714253" "subst" "0" "03211" "FBN1_000304" "g.48714253C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48422056C>T" "present" "likely pathogenic" "ACMG" "0000459667" "0" "70" "15" "48714220" "48714220" "subst" "0" "03211" "FBN1_000097" "g.48714220C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48422023C>T" "present" "likely pathogenic" "ACMG" "0000459668" "0" "70" "15" "48714214" "48714214" "subst" "0" "03211" "FBN1_000303" "g.48714214T>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48422017T>A" "present" "likely pathogenic" "ACMG" "0000459669" "0" "70" "15" "48714194" "48714194" "subst" "0" "03211" "FBN1_000302" "g.48714194A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48421997A>C" "present" "likely pathogenic" "ACMG" "0000459670" "0" "30" "15" "48714190" "48714190" "subst" "0.0000690922" "03211" "FBN1_000301" "g.48714190T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48421993T>C" "present" "likely benign" "ACMG" "0000459671" "0" "70" "15" "48714188" "48714188" "subst" "0" "03211" "FBN1_000300" "g.48714188A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48421991A>G" "present" "likely pathogenic" "ACMG" "0000459672" "0" "50" "15" "48714179" "48714179" "subst" "0" "03211" "FBN1_000299" "g.48714179C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48421982C>T" "present" "VUS" "ACMG" "0000459673" "0" "70" "15" "48713877" "48713877" "subst" "0" "03211" "FBN1_000298" "g.48713877T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48421680T>C" "present" "likely pathogenic" "ACMG" "0000459674" "0" "70" "15" "48713874" "48713874" "subst" "0" "03211" "FBN1_000297" "g.48713874T>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48421677T>G" "present" "likely pathogenic" "ACMG" "0000459675" "0" "50" "15" "48713856" "48713856" "subst" "0.00000814744" "03211" "FBN1_000296" "g.48713856T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48421659T>C" "present" "VUS" "ACMG" "0000459676" "0" "50" "15" "48713854" "48713854" "subst" "0" "03211" "FBN1_000295" "g.48713854G>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48421657G>T" "present" "VUS" "ACMG" "0000459677" "0" "90" "15" "48713848" "48713848" "subst" "0" "03211" "FBN1_000294" "g.48713848C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48421651C>T" "present" "pathogenic" "ACMG" "0000459678" "0" "50" "15" "48713814" "48713814" "subst" "0" "03211" "FBN1_000293" "g.48713814C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48421617C>A" "present" "VUS" "ACMG" "0000459679" "0" "50" "15" "48713794" "48713794" "subst" "0.000024481" "03211" "FBN1_000292" "g.48713794G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48421597G>A" "present" "VUS" "ACMG" "0000459680" "0" "30" "15" "48713793" "48713793" "subst" "0.000134677" "03211" "FBN1_000291" "g.48713793C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48421596C>T" "present" "likely benign" "ACMG" "0000459681" "0" "70" "15" "48713788" "48713788" "subst" "0" "03211" "FBN1_000290" "g.48713788A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48421591A>C" "present" "likely pathogenic" "ACMG" "0000459682" "0" "50" "15" "48713785" "48713785" "subst" "0" "03211" "FBN1_000289" "g.48713785A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48421588A>G" "present" "VUS" "ACMG" "0000459683" "0" "50" "15" "48713001" "48713001" "subst" "0.0000163099" "03211" "FBN1_000288" "g.48713001C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48420804C>T" "present" "VUS" "ACMG" "0000459684" "0" "70" "15" "48712995" "48712995" "subst" "0" "03211" "FBN1_000287" "g.48712995C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48420798C>T" "present" "likely pathogenic" "ACMG" "0000459685" "0" "70" "15" "48712977" "48712977" "subst" "0.00000407256" "03211" "FBN1_000286" "g.48712977G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48420780G>A" "present" "likely pathogenic" "ACMG" "0000459686" "0" "90" "15" "48712949" "48712949" "subst" "0.0000162819" "03211" "FBN1_000213" "g.48712949A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48420752A>G" "present" "pathogenic" "ACMG" "0000459687" "0" "70" "15" "48712934" "48712934" "subst" "0" "03211" "FBN1_000285" "g.48712934C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48420737C>T" "present" "likely pathogenic" "ACMG" "0000459688" "0" "70" "15" "48712933" "48712933" "subst" "0" "03211" "FBN1_000284" "g.48712933G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48420736G>C" "present" "likely pathogenic" "ACMG" "0000459689" "0" "70" "15" "48712928" "48712928" "subst" "0" "03211" "FBN1_000282" "g.48712928C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48420731C>T" "present" "likely pathogenic" "ACMG" "0000459690" "0" "70" "15" "48712928" "48712928" "subst" "0" "03211" "FBN1_000283" "g.48712928C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48420731C>A" "present" "likely pathogenic" "ACMG" "0000459691" "0" "50" "15" "48712919" "48712919" "subst" "0" "03211" "FBN1_000281" "g.48712919C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48420722C>A" "present" "VUS" "ACMG" "0000459692" "0" "70" "15" "48707956" "48707956" "subst" "0" "03211" "FBN1_000280" "g.48707956C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415759C>T" "present" "likely pathogenic" "ACMG" "0000459693" "0" "70" "15" "48707952" "48707952" "subst" "0" "03211" "FBN1_000279" "g.48707952C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415755C>T" "present" "likely pathogenic" "ACMG" "0000459694" "0" "30" "15" "48707938" "48707938" "subst" "0.000052855" "03211" "FBN1_000278" "g.48707938T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415741T>C" "present" "likely benign" "ACMG" "0000459695" "0" "50" "15" "48707936" "48707936" "subst" "0.00000813107" "03211" "FBN1_000277" "g.48707936G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415739G>C" "present" "VUS" "ACMG" "0000459696" "0" "50" "15" "48707932" "48707932" "subst" "0.000215468" "03211" "FBN1_000276" "g.48707932C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415735C>T" "present" "VUS" "ACMG" "0000459697" "0" "70" "15" "48707922" "48707922" "subst" "0" "03211" "FBN1_000275" "g.48707922G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415725G>C" "present" "likely pathogenic" "ACMG" "0000459698" "0" "50" "15" "48707907" "48707907" "subst" "0" "03211" "FBN1_000274" "g.48707907A>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415710A>T" "present" "VUS" "ACMG" "0000459699" "0" "70" "15" "48707905" "48707905" "subst" "0" "03211" "FBN1_000272" "g.48707905C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415708C>T" "present" "likely pathogenic" "ACMG" "0000459700" "0" "70" "15" "48707905" "48707905" "subst" "0" "03211" "FBN1_000273" "g.48707905C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415708C>G" "present" "likely pathogenic" "ACMG" "0000459701" "0" "70" "15" "48707892" "48707892" "subst" "0" "03211" "FBN1_000271" "g.48707892C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415695C>T" "present" "likely pathogenic" "ACMG" "0000459702" "0" "70" "15" "48707886" "48707886" "subst" "0" "03211" "FBN1_000270" "g.48707886C>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415689C>G" "present" "likely pathogenic" "ACMG" "0000459703" "0" "50" "15" "48707878" "48707878" "subst" "0" "03211" "FBN1_000269" "g.48707878C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415681C>T" "present" "VUS" "ACMG" "0000459704" "0" "90" "15" "48707868" "48707868" "subst" "0" "03211" "FBN1_000268" "g.48707868T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415671T>C" "present" "pathogenic" "ACMG" "0000459705" "0" "50" "15" "48707835" "48707835" "subst" "0.00000812651" "03211" "FBN1_000267" "g.48707835T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415638T>C" "present" "VUS" "ACMG" "0000459706" "0" "70" "15" "48707829" "48707829" "subst" "0" "03211" "FBN1_000266" "g.48707829C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415632C>T" "present" "likely pathogenic" "ACMG" "0000459707" "0" "30" "15" "48707820" "48707820" "subst" "0.000276544" "03211" "FBN1_000265" "g.48707820G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415623G>A" "present" "likely benign" "ACMG" "0000459708" "0" "50" "15" "48707804" "48707804" "subst" "0" "03211" "FBN1_000264" "g.48707804G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415607G>C" "present" "VUS" "ACMG" "0000459709" "0" "70" "15" "48707790" "48707790" "subst" "0.00000407461" "03211" "FBN1_000263" "g.48707790T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415593T>C" "present" "likely pathogenic" "ACMG" "0000459710" "0" "30" "15" "48707785" "48707785" "subst" "0.0000203922" "03211" "FBN1_000262" "g.48707785C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415588C>T" "present" "likely benign" "ACMG" "0000459711" "0" "70" "15" "48707782" "48707782" "subst" "0" "03211" "FBN1_000261" "g.48707782C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415585C>A" "present" "likely pathogenic" "ACMG" "0000459712" "0" "70" "15" "48707779" "48707779" "subst" "0" "03211" "FBN1_000260" "g.48707779C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415582C>A" "present" "likely pathogenic" "ACMG" "0000459713" "0" "50" "15" "48707778" "48707778" "subst" "0" "03211" "FBN1_000259" "g.48707778C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415581C>A" "present" "VUS" "ACMG" "0000459714" "0" "70" "15" "48707768" "48707768" "subst" "0" "03211" "FBN1_000258" "g.48707768A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415571A>C" "present" "likely pathogenic" "ACMG" "0000459715" "0" "70" "15" "48707764" "48707764" "subst" "0" "03211" "FBN1_000257" "g.48707764A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415567A>G" "present" "likely pathogenic" "ACMG" "0000459716" "0" "70" "15" "48707763" "48707763" "subst" "0" "03211" "FBN1_000256" "g.48707763C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415566C>T" "present" "likely pathogenic" "ACMG" "0000459717" "0" "30" "15" "48707757" "48707757" "subst" "0.0000368152" "03211" "FBN1_000255" "g.48707757G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415560G>A" "present" "likely benign" "ACMG" "0000459718" "0" "70" "15" "48707746" "48707746" "subst" "0" "03211" "FBN1_000254" "g.48707746G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48415549G>A" "present" "likely pathogenic" "ACMG" "0000459719" "0" "30" "15" "48704921" "48704921" "subst" "0.0000650105" "03211" "FBN1_000253" "g.48704921C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48412724C>T" "present" "likely benign" "ACMG" "0000459720" "0" "50" "15" "48704912" "48704912" "subst" "0.00000406293" "03211" "FBN1_000252" "g.48704912G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48412715G>C" "present" "VUS" "ACMG" "0000459721" "0" "50" "15" "48704911" "48704911" "subst" "0.00000406279" "03211" "FBN1_000251" "g.48704911C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48412714C>T" "present" "VUS" "ACMG" "0000459722" "0" "50" "15" "48704893" "48704893" "subst" "0" "03211" "FBN1_000250" "g.48704893G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48412696G>A" "present" "VUS" "ACMG" "0000459723" "0" "50" "15" "48704884" "48704884" "subst" "0" "03211" "FBN1_000249" "g.48704884C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48412687C>A" "present" "VUS" "ACMG" "0000459724" "0" "30" "15" "48704843" "48704843" "subst" "0.000138073" "03211" "FBN1_000248" "g.48704843C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48412646C>T" "present" "likely benign" "ACMG" "0000459725" "0" "50" "15" "48704822" "48704822" "subst" "0" "03211" "FBN1_000247" "g.48704822G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48412625G>A" "present" "VUS" "ACMG" "0000459726" "0" "30" "15" "48704816" "48704816" "subst" "0.000722878" "03211" "FBN1_000246" "g.48704816G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48412619G>A" "present" "likely benign" "ACMG" "0000459727" "0" "30" "15" "48704815" "48704815" "subst" "0.0000446722" "03211" "FBN1_000245" "g.48704815C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48412618C>T" "present" "likely benign" "ACMG" "0000459728" "0" "30" "15" "48704807" "48704807" "subst" "0.000292391" "03211" "FBN1_000244" "g.48704807T>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48412610T>G" "present" "likely benign" "ACMG" "0000459729" "0" "30" "15" "48704803" "48704803" "subst" "0.000109651" "03211" "FBN1_000243" "g.48704803C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48412606C>T" "present" "likely benign" "ACMG" "0000459730" "0" "50" "15" "48704794" "48704794" "subst" "0" "03211" "FBN1_000242" "g.48704794G>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48412597G>C" "present" "VUS" "ACMG" "0000459731" "0" "50" "15" "48704774" "48704774" "subst" "0.00000812374" "03211" "FBN1_000088" "g.48704774T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48412577T>C" "present" "VUS" "ACMG" "0000459732" "0" "50" "15" "48704773" "48704773" "subst" "0.000024371" "03211" "FBN1_000241" "g.48704773T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48412576T>C" "present" "VUS" "ACMG" "0000459733" "0" "50" "15" "48704766" "48704766" "subst" "0" "03211" "FBN1_000240" "g.48704766C>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48412569C>A" "present" "VUS" "ACMG" "0000459734" "0" "50" "15" "48703533" "48703533" "subst" "0" "03211" "FBN1_000239" "g.48703533T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48411336T>C" "present" "VUS" "ACMG" "0000459735" "0" "30" "15" "48703503" "48703503" "subst" "0.0000650068" "03211" "FBN1_000238" "g.48703503T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48411306T>C" "present" "likely benign" "ACMG" "0000459736" "0" "30" "15" "48703492" "48703492" "subst" "0.0000568787" "03211" "FBN1_000237" "g.48703492C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48411295C>T" "present" "likely benign" "ACMG" "0000459737" "0" "50" "15" "48703476" "48703476" "subst" "0.0000121864" "03211" "FBN1_000236" "g.48703476C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48411279C>T" "present" "VUS" "ACMG" "0000459738" "0" "50" "15" "48703464" "48703464" "subst" "0" "03211" "FBN1_000235" "g.48703464A>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48411267A>G" "present" "VUS" "ACMG" "0000459739" "0" "30" "15" "48703440" "48703440" "subst" "0.0000690524" "03211" "FBN1_000234" "g.48703440G>A" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48411243G>A" "present" "likely benign" "ACMG" "0000459740" "0" "50" "15" "48703425" "48703425" "subst" "0" "03211" "FBN1_000233" "g.48703425T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48411228T>C" "present" "VUS" "ACMG" "0000459741" "0" "50" "15" "48703410" "48703410" "subst" "0" "03211" "FBN1_000232" "g.48703410C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48411213C>T" "present" "VUS" "ACMG" "0000459742" "0" "50" "15" "48703398" "48703398" "subst" "0" "03211" "FBN1_000231" "g.48703398C>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48411201C>T" "present" "VUS" "ACMG" "0000459743" "0" "50" "15" "48703391" "48703391" "subst" "0" "03211" "FBN1_000230" "g.48703391A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48411194A>C" "present" "VUS" "ACMG" "0000459744" "0" "50" "15" "48703354" "48703354" "subst" "0.0000162475" "03211" "FBN1_000229" "g.48703354A>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48411157A>C" "present" "VUS" "ACMG" "0000459745" "0" "50" "15" "48703342" "48703342" "subst" "0" "03211" "FBN1_000228" "g.48703342T>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48411145T>G" "present" "VUS" "ACMG" "0000459746" "0" "50" "15" "48703332" "48703332" "subst" "0" "03211" "FBN1_000227" "g.48703332G>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48411135G>T" "present" "VUS" "ACMG" "0000459747" "0" "50" "15" "48703323" "48703323" "subst" "0" "03211" "FBN1_000226" "g.48703323T>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48411126T>G" "present" "VUS" "ACMG" "0000459748" "0" "30" "15" "48703309" "48703309" "subst" "0.00000812414" "03211" "FBN1_000225" "g.48703309T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48411112T>C" "present" "likely benign" "ACMG" "0000459749" "0" "50" "15" "48703260" "48703260" "subst" "0.0000121962" "03211" "FBN1_000224" "g.48703260T>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48411063T>G" "present" "VUS" "ACMG" "0000459750" "0" "50" "15" "48703252" "48703252" "subst" "0.0000121984" "03211" "FBN1_000223" "g.48703252T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48411055T>C" "present" "VUS" "ACMG" "0000459751" "0" "50" "15" "48703224" "48703224" "subst" "0.00000406547" "03211" "FBN1_000222" "g.48703224T>C" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48411027T>C" "present" "VUS" "ACMG" "0000459752" "0" "50" "15" "48703212" "48703212" "subst" "0" "03211" "FBN1_000221" "g.48703212A>T" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48411015A>T" "present" "VUS" "ACMG" "0000459753" "0" "50" "15" "48703203" "48703203" "subst" "0" "03211" "FBN1_000220" "g.48703203T>G" "" "Baudhuin 2019, submitted" "" "" "classification based on FBN1-specific modified 2015 ACMGG/AMP/CAP criteria" "CLASSIFICATION record" "-" "" "0" "" "" "g.48411006T>G" "present" "VUS" "ACMG" "0000472616" "11" "70" "15" "48720692" "48720692" "subst" "0" "02515" "FBN1_000856" "g.48720692A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.48428495A>T" "" "likely pathogenic" "" "0000472621" "0" "70" "15" "48713895" "48713895" "subst" "0" "02515" "FBN1_000855" "g.48713895A>T" "" "" "" "r.7572-7582ins10" "" "Germline" "yes" "" "0" "" "" "g.48421698A>T" "" "likely pathogenic" "" "0000478185" "0" "50" "15" "48744845" "48744845" "subst" "0" "01807" "FBN1_000857" "g.48744845C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48452648C>A" "" "VUS" "" "0000484301" "0" "50" "15" "48936861" "48936861" "subst" "0" "01807" "FBN1_000858" "g.48936861C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48644664C>T" "" "VUS" "" "0000554533" "0" "90" "15" "48703224" "48703225" "dup" "0" "02329" "FBN1_000859" "g.48703224_48703225dup" "" "" "" "FBN1(NM_000138.4):c.8578_8579dupGA (p.D2860Efs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48411027_48411028dup" "" "pathogenic" "" "0000554534" "0" "30" "15" "48703493" "48703493" "subst" "0.000255966" "01943" "FBN1_000860" "g.48703493G>A" "" "" "" "FBN1(NM_000138.4):c.8310C>T (p.H2770=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48411296G>A" "" "likely benign" "" "0000554535" "0" "30" "15" "48703503" "48703503" "subst" "0.0000650068" "01804" "FBN1_000238" "g.48703503T>C" "" "" "" "FBN1(NM_000138.4):c.8300A>G (p.(Asn2767Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48411306T>C" "" "likely benign" "" "0000554536" "0" "30" "15" "48704815" "48704815" "subst" "0.0000446722" "02327" "FBN1_000245" "g.48704815C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48412618C>T" "" "likely benign" "" "0000554537" "0" "50" "15" "48704816" "48704816" "subst" "0.000722878" "01943" "FBN1_000246" "g.48704816G>A" "" "" "" "FBN1(NM_000138.4):c.8176C>T (p.R2726W, p.(Arg2726Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48412619G>A" "" "VUS" "" "0000554538" "0" "50" "15" "48704816" "48704816" "subst" "0.000722878" "02325" "FBN1_000246" "g.48704816G>A" "" "" "" "FBN1(NM_000138.4):c.8176C>T (p.R2726W, p.(Arg2726Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48412619G>A" "" "VUS" "" "0000554539" "0" "30" "15" "48704910" "48704910" "subst" "0" "01943" "FBN1_000861" "g.48704910T>G" "" "" "" "FBN1(NM_000138.4):c.8082A>C (p.R2694=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48412713T>G" "" "likely benign" "" "0000554540" "0" "90" "15" "48707814" "48707814" "dup" "0" "01943" "FBN1_000862" "g.48707814dup" "" "" "" "FBN1(NM_000138.4):c.7974dupC (p.C2659Lfs*46)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48415617dup" "" "pathogenic" "" "0000554541" "0" "50" "15" "48707827" "48707827" "subst" "0.00000406458" "01943" "FBN1_000863" "g.48707827C>T" "" "" "" "FBN1(NM_000138.4):c.7957G>A (p.G2653S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48415630C>T" "" "VUS" "" "0000554542" "0" "90" "15" "48707887" "48707887" "subst" "0" "02329" "FBN1_000864" "g.48707887A>G" "" "" "" "FBN1(NM_000138.4):c.7897T>C (p.C2633R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48415690A>G" "" "pathogenic" "" "0000554543" "0" "30" "15" "48707942" "48707942" "subst" "0.0000203326" "02329" "FBN1_000865" "g.48707942A>C" "" "" "" "FBN1(NM_000138.4):c.7842T>G (p.A2614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48415745A>C" "" "likely benign" "" "0000554544" "0" "30" "15" "48712876" "48712876" "subst" "0.0262395" "01804" "FBN1_000092" "g.48712876T>G" "" "" "" "FBN1(NM_000138.4):c.7819+8A>C (, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48420679T>G" "" "likely benign" "" "0000554545" "0" "70" "15" "48712995" "48712995" "subst" "0" "02329" "FBN1_000287" "g.48712995C>T" "" "" "" "FBN1(NM_000138.4):c.7708G>A (p.E2570K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48420798C>T" "" "likely pathogenic" "" "0000554546" "0" "30" "15" "48713793" "48713793" "subst" "0.000134677" "02326" "FBN1_000291" "g.48713793C>T" "" "" "" "FBN1(NM_000138.4):c.7661G>A (p.R2554Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48421596C>T" "" "likely benign" "" "0000554547" "0" "50" "15" "48717581" "48717581" "subst" "0" "02329" "FBN1_000866" "g.48717581C>T" "" "" "" "FBN1(NM_000138.4):c.7438G>A (p.G2480R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48425384C>T" "" "VUS" "" "0000554548" "0" "50" "15" "48717596" "48717596" "subst" "0" "02329" "FBN1_000867" "g.48717596T>C" "" "" "" "FBN1(NM_000138.4):c.7423A>G (p.I2475V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48425399T>C" "" "VUS" "" "0000554549" "0" "50" "15" "48717607" "48717607" "subst" "0.0000203148" "01804" "FBN1_000099" "g.48717607G>C" "" "" "" "FBN1(NM_000138.4):c.7412C>G (p.P2471R, p.(Pro2471Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48425410G>C" "" "VUS" "" "0000554550" "0" "50" "15" "48717619" "48717619" "subst" "0.0000162521" "02329" "FBN1_000868" "g.48717619T>C" "" "" "" "FBN1(NM_000138.4):c.7400A>G (p.Q2467R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48425422T>C" "" "VUS" "" "0000554551" "0" "90" "15" "48717940" "48717940" "subst" "0" "02329" "FBN1_000869" "g.48717940A>C" "" "" "" "FBN1(NM_000138.4):c.7326T>G (p.C2442W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48425743A>C" "" "pathogenic" "" "0000554552" "0" "50" "15" "48718025" "48718025" "subst" "0.0000325219" "02329" "FBN1_000319" "g.48718025C>T" "" "" "" "FBN1(NM_000138.4):c.7241G>A (p.R2414Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48425828C>T" "" "VUS" "" "0000554553" "0" "30" "15" "48718036" "48718036" "subst" "0.0000731892" "02329" "FBN1_000870" "g.48718036G>A" "" "" "" "FBN1(NM_000138.4):c.7230C>T (p.H2410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48425839G>A" "" "likely benign" "" "0000554554" "0" "30" "15" "48718059" "48718059" "subst" "0" "02327" "FBN1_000871" "g.48718059T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48425862T>C" "" "likely benign" "" "0000554555" "0" "30" "15" "48719757" "48719757" "subst" "0.0000773458" "02327" "FBN1_000056" "g.48719757G>C" "" "" "" "FBN1(NM_000138.4):c.7204+7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48427560G>C" "" "likely benign" "" "0000554556" "0" "50" "15" "48719782" "48719782" "subst" "0.00000406815" "01943" "FBN1_000872" "g.48719782A>G" "" "" "" "FBN1(NM_000138.4):c.7186T>C (p.F2396L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48427585A>G" "" "VUS" "" "0000554557" "0" "50" "15" "48719904" "48719904" "subst" "0.00000407219" "02329" "FBN1_000873" "g.48719904C>T" "" "" "" "FBN1(NM_000138.4):c.7064G>A (p.R2355K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48427707C>T" "" "VUS" "" "0000554558" "0" "30" "15" "48719912" "48719912" "subst" "0.0000488683" "02327" "FBN1_000874" "g.48719912G>A" "" "" "" "FBN1(NM_000138.4):c.7056C>T (p.S2352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48427715G>A" "" "likely benign" "" "0000554559" "0" "30" "15" "48719912" "48719912" "subst" "0.0000488683" "02329" "FBN1_000874" "g.48719912G>A" "" "" "" "FBN1(NM_000138.4):c.7056C>T (p.S2352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48427715G>A" "" "likely benign" "" "0000554560" "0" "50" "15" "48719918" "48719918" "subst" "0.0000244369" "02327" "FBN1_000875" "g.48719918G>A" "" "" "" "FBN1(NM_000138.4):c.7050C>T (p.I2350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48427721G>A" "" "VUS" "" "0000554561" "0" "90" "15" "48720598" "48720598" "subst" "0" "02329" "FBN1_000876" "g.48720598G>C" "" "" "" "FBN1(NM_000138.4):c.6942C>G (p.Y2314*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48428401G>C" "" "pathogenic" "" "0000554562" "0" "50" "15" "48720623" "48720623" "subst" "0.0000162583" "01804" "FBN1_000348" "g.48720623C>T" "" "" "" "FBN1(NM_000138.4):c.6917G>A (p.R2306H, p.(Arg2306His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48428426C>T" "" "VUS" "" "0000554563" "0" "50" "15" "48722895" "48722895" "subst" "0.0000121927" "02326" "FBN1_000877" "g.48722895G>A" "" "" "" "FBN1(NM_000138.4):c.6844C>T (p.R2282W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48430698G>A" "" "VUS" "" "0000554564" "0" "30" "15" "48722902" "48722902" "subst" "0.000239773" "02329" "FBN1_000878" "g.48722902C>T" "" "" "" "FBN1(NM_000138.4):c.6837G>A (p.G2279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48430705C>T" "" "likely benign" "" "0000554565" "0" "30" "15" "48722905" "48722905" "subst" "0.000126002" "01943" "FBN1_000879" "g.48722905G>A" "" "" "" "FBN1(NM_000138.4):c.6834C>T (p.P2278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48430708G>A" "" "likely benign" "" "0000554566" "0" "30" "15" "48722907" "48722907" "subst" "0.00252386" "02329" "FBN1_000108" "g.48722907G>A" "" "" "" "FBN1(NM_000138.4):c.6832C>T (p.P2278S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48430710G>A" "" "likely benign" "" "0000554567" "0" "50" "15" "48725099" "48725099" "subst" "0" "01943" "FBN1_000880" "g.48725099C>T" "" "" "" "FBN1(NM_000138.4):c.6703G>A (p.G2235R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48432902C>T" "" "VUS" "" "0000554569" "0" "50" "15" "48725143" "48725143" "subst" "0.00000813862" "02329" "FBN1_000113" "g.48725143C>T" "" "" "" "FBN1(NM_000138.4):c.6659G>A (p.R2220Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48432946C>T" "" "VUS" "" "0000554571" "0" "50" "15" "48726830" "48726830" "subst" "0.0000162612" "02327" "FBN1_000383" "g.48726830C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48434633C>T" "" "VUS" "" "0000554572" "0" "50" "15" "48729205" "48729205" "subst" "0" "02329" "FBN1_000882" "g.48729205C>T" "" "" "" "FBN1(NM_000138.4):c.6449G>A (p.R2150H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48437008C>T" "" "VUS" "" "0000554573" "0" "10" "15" "48729261" "48729261" "subst" "0.00111175" "02329" "FBN1_000120" "g.48729261G>A" "" "" "" "FBN1(NM_000138.4):c.6393C>T (p.C2131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48437064G>A" "" "benign" "" "0000554574" "0" "50" "15" "48729277" "48729277" "subst" "0.0000366772" "02329" "FBN1_000883" "g.48729277T>C" "" "" "" "FBN1(NM_000138.4):c.6380-3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48437080T>C" "" "VUS" "" "0000554575" "0" "50" "15" "48729584" "48729584" "subst" "0.0000040795" "02329" "FBN1_000884" "g.48729584T>A" "" "" "" "FBN1(NM_000138.4):c.6314A>T (p.E2105V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48437387T>A" "" "VUS" "" "0000554576" "0" "30" "15" "48729990" "48729990" "subst" "0.0000855251" "01943" "FBN1_000885" "g.48729990G>A" "" "" "" "FBN1(NM_000138.4):c.6288C>T (p.C2096=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48437793G>A" "" "likely benign" "" "0000554577" "0" "30" "15" "48733971" "48733971" "subst" "0.0000122062" "01943" "FBN1_000886" "g.48733971T>G" "" "" "" "FBN1(NM_000138.4):c.6110A>C (p.K2037T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48441774T>G" "" "likely benign" "" "0000554578" "0" "50" "15" "48734026" "48734026" "subst" "0.0000163026" "02329" "FBN1_000124" "g.48734026C>T" "" "" "" "FBN1(NM_000138.4):c.6055G>A (p.E2019K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48441829C>T" "" "VUS" "" "0000554580" "0" "90" "15" "48736738" "48736738" "subst" "0" "02329" "FBN1_000887" "g.48736738C>A" "" "" "" "FBN1(NM_000138.4):c.6037G>T (p.D2013Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48444541C>A" "" "pathogenic" "" "0000554581" "0" "90" "15" "48736744" "48736744" "subst" "0" "02329" "FBN1_000888" "g.48736744A>G" "" "" "" "FBN1(NM_000138.4):c.6031T>C (p.C2011R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48444547A>G" "" "pathogenic" "" "0000554582" "0" "50" "15" "48736750" "48736750" "subst" "0.0000040664" "01943" "FBN1_000429" "g.48736750C>T" "" "" "" "FBN1(NM_000138.4):c.6025G>A (p.E2009K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48444553C>T" "" "VUS" "" "0000554583" "0" "70" "15" "48736768" "48736768" "subst" "0" "01943" "FBN1_000206" "g.48736768C>T" "" "" "" "FBN1(NM_000138.4):c.6007G>A (p.G2003R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48444571C>T" "" "likely pathogenic" "" "0000554584" "0" "50" "15" "48736812" "48736812" "subst" "0.000020334" "02326" "FBN1_000889" "g.48736812G>A" "" "" "" "FBN1(NM_000138.4):c.5963C>T (p.T1988I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48444615G>A" "" "VUS" "" "0000554585" "0" "70" "15" "48736819" "48736820" "ins" "0" "02329" "FBN1_000890" "g.48736819_48736820insGTGCAC" "" "" "" "FBN1(NM_000138.4):c.5955_5956insGTGCAC (p.A1985_P1986insVH)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48444622_48444623insGTGCAC" "" "likely pathogenic" "" "0000554587" "0" "30" "15" "48737714" "48737714" "subst" "0.00000407289" "02329" "FBN1_000893" "g.48737714C>T" "" "" "" "FBN1(NM_000138.4):c.5789-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48445517C>T" "" "likely benign" "" "0000554588" "0" "30" "15" "48738893" "48738893" "subst" "0.000455785" "02326" "FBN1_000894" "g.48738893G>T" "" "" "" "FBN1(NM_000138.4):c.5788+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48446696G>T" "" "likely benign" "" "0000554589" "0" "10" "15" "48744911" "48744913" "del" "0" "02325" "FBN1_000895" "g.48744911_48744913del" "" "" "" "FBN1(NM_000138.4):c.5423-30_5423-28delCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48452714_48452716del" "" "benign" "" "0000554590" "0" "30" "15" "48748893" "48748893" "subst" "0.00000406564" "01943" "FBN1_000896" "g.48748893C>G" "" "" "" "FBN1(NM_000138.4):c.5363G>C (p.S1788T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48456696C>G" "" "likely benign" "" "0000554591" "0" "50" "15" "48748893" "48748893" "subst" "0.00000406564" "02329" "FBN1_000896" "g.48748893C>G" "" "" "" "FBN1(NM_000138.4):c.5363G>C (p.S1788T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48456696C>G" "" "VUS" "" "0000554592" "0" "90" "15" "48748951" "48748951" "subst" "0" "02329" "FBN1_000897" "g.48748951C>T" "" "" "" "FBN1(NM_000138.4):c.5305G>A (p.E1769K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48456754C>T" "" "pathogenic" "" "0000554593" "0" "10" "15" "48752429" "48752429" "subst" "0.00161988" "02329" "FBN1_000131" "g.48752429C>T" "" "" "" "FBN1(NM_000138.4):c.5296+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48460232C>T" "" "benign" "" "0000554595" "0" "50" "15" "48755380" "48755380" "subst" "0.00000812665" "01943" "FBN1_000898" "g.48755380C>T" "" "" "" "FBN1(NM_000138.4):c.5123G>A (p.G1708E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48463183C>T" "" "VUS" "" "0000554596" "0" "10" "15" "48755458" "48755458" "dup" "0" "02326" "FBN1_000899" "g.48755458dup" "" "" "" "FBN1(NM_000138.4):c.5066-14dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48463261dup" "" "benign" "" "0000554597" "0" "10" "15" "48755458" "48755458" "dup" "0" "02329" "FBN1_000899" "g.48755458dup" "" "" "" "FBN1(NM_000138.4):c.5066-14dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48463261dup" "" "benign" "" "0000554598" "0" "90" "15" "48756146" "48756146" "del" "0" "02329" "FBN1_000900" "g.48756146del" "" "" "" "FBN1(NM_000138.4):c.5015delG (p.C1672Lfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48463949del" "" "pathogenic" "" "0000554599" "0" "90" "15" "48756174" "48756174" "subst" "0" "02329" "FBN1_000496" "g.48756174A>G" "" "" "" "FBN1(NM_000138.4):c.4987T>C (p.C1663R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48463977A>G" "" "pathogenic" "" "0000554600" "0" "50" "15" "48756176" "48756176" "subst" "0" "02327" "FBN1_000497" "g.48756176G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48463979G>T" "" "VUS" "" "0000554601" "0" "90" "15" "48756220" "48756220" "subst" "0" "02329" "FBN1_000207" "g.48756220T>C" "" "" "" "FBN1(NM_000138.4):c.4943-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48464023T>C" "" "pathogenic" "" "0000554602" "0" "50" "15" "48757777" "48757777" "subst" "0" "01804" "FBN1_000901" "g.48757777G>A" "" "" "" "FBN1(NM_000138.4):c.4930C>T (p.(Arg1644Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48465580G>A" "" "VUS" "" "0000554603" "0" "30" "15" "48757871" "48757871" "subst" "0.00000406441" "02326" "FBN1_000902" "g.48757871C>T" "" "" "" "FBN1(NM_000138.4):c.4836G>A (p.E1612=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48465674C>T" "" "likely benign" "" "0000554605" "0" "90" "15" "48760294" "48760294" "subst" "0" "02329" "FBN1_000025" "g.48760294G>A" "" "" "" "FBN1(NM_000138.4):c.4588C>T (p.R1530C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48468097G>A" "" "pathogenic" "" "0000554607" "0" "50" "15" "48760629" "48760629" "subst" "0" "02329" "FBN1_000905" "g.48760629G>A" "" "" "" "FBN1(NM_000138.4):c.4562C>T (p.P1521L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48468432G>A" "" "VUS" "" "0000554608" "0" "90" "15" "48760739" "48760739" "subst" "0.00000406851" "02329" "FBN1_000906" "g.48760739C>T" "" "" "" "FBN1(NM_000138.4):c.4460-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48468542C>T" "" "pathogenic" "" "0000554610" "0" "90" "15" "48762856" "48762857" "del" "0" "02329" "FBN1_000907" "g.48762856_48762857del" "" "" "" "FBN1(NM_000138.4):c.4433_4434delTG (p.L1478Rfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48470659_48470660del" "" "pathogenic" "" "0000554611" "0" "30" "15" "48762862" "48762862" "subst" "0.0000121935" "02329" "FBN1_000908" "g.48762862G>A" "" "" "" "FBN1(NM_000138.4):c.4428C>T (p.Y1476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48470665G>A" "" "likely benign" "" "0000554612" "0" "30" "15" "48762962" "48762962" "subst" "0.0000284977" "01943" "FBN1_000909" "g.48762962G>A" "" "" "" "FBN1(NM_000138.4):c.4337-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48470765G>A" "" "likely benign" "" "0000554613" "0" "30" "15" "48764778" "48764778" "subst" "0.000581065" "02329" "FBN1_000143" "g.48764778C>T" "" "" "" "FBN1(NM_000138.4):c.4306G>A (p.V1436M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48472581C>T" "" "likely benign" "" "0000554614" "0" "50" "15" "48764814" "48764814" "subst" "0.00019497" "01943" "FBN1_000552" "g.48764814G>C" "" "" "" "FBN1(NM_000138.4):c.4270C>G (p.P1424A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48472617G>C" "" "VUS" "" "0000554615" "0" "50" "15" "48764870" "48764870" "subst" "0.000109664" "01943" "FBN1_000558" "g.48764870A>C" "" "" "" "FBN1(NM_000138.4):c.4214T>G (p.L1405R, p.(Leu1405Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48472673A>C" "" "VUS" "" "0000554616" "0" "30" "15" "48764870" "48764870" "subst" "0.000109664" "01804" "FBN1_000558" "g.48764870A>C" "" "" "" "FBN1(NM_000138.4):c.4214T>G (p.L1405R, p.(Leu1405Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48472673A>C" "" "likely benign" "" "0000554617" "0" "50" "15" "48764870" "48764870" "subst" "0.000109664" "02327" "FBN1_000558" "g.48764870A>C" "" "" "" "FBN1(NM_000138.4):c.4214T>G (p.L1405R, p.(Leu1405Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48472673A>C" "" "VUS" "" "0000554618" "0" "30" "15" "48764870" "48764870" "subst" "0.000109664" "02326" "FBN1_000558" "g.48764870A>C" "" "" "" "FBN1(NM_000138.4):c.4214T>G (p.L1405R, p.(Leu1405Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48472673A>C" "" "likely benign" "" "0000554619" "0" "50" "15" "48766512" "48766512" "subst" "0.0000284403" "02327" "FBN1_000564" "g.48766512T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48474315T>C" "" "VUS" "" "0000554620" "0" "90" "15" "48766729" "48766729" "subst" "0" "02329" "FBN1_000910" "g.48766729G>T" "" "" "" "FBN1(NM_000138.4):c.4083C>A (p.C1361*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48474532G>T" "" "pathogenic" "" "0000554621" "0" "30" "15" "48766737" "48766737" "subst" "0.00000812394" "01804" "FBN1_000911" "g.48766737T>C" "" "" "" "FBN1(NM_000138.4):c.4075A>G (p.(Ile1359Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48474540T>C" "" "likely benign" "" "0000554623" "0" "10" "15" "48766855" "48766855" "subst" "0.00189198" "02327" "FBN1_000912" "g.48766855A>G" "" "" "" "FBN1(NM_000138.4):c.3965-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48474658A>G" "" "benign" "" "0000554624" "0" "10" "15" "48766855" "48766855" "subst" "0.00189198" "02329" "FBN1_000912" "g.48766855A>G" "" "" "" "FBN1(NM_000138.4):c.3965-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48474658A>G" "" "benign" "" "0000554625" "0" "90" "15" "48773868" "48773868" "del" "0" "02329" "FBN1_000913" "g.48773868del" "" "" "" "FBN1(NM_000138.4):c.3952delA (p.T1318Lfs*95)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48481671del" "" "pathogenic" "" "0000554626" "0" "30" "15" "48779286" "48779286" "subst" "0.000097669" "01943" "FBN1_000914" "g.48779286C>T" "" "" "" "FBN1(NM_000138.4):c.3575G>A (p.R1192K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48487089C>T" "" "likely benign" "" "0000554627" "0" "30" "15" "48779358" "48779358" "subst" "0.0000690355" "02326" "FBN1_000148" "g.48779358T>C" "" "" "" "FBN1(NM_000138.4):c.3503A>G (p.N1168S, p.(Asn1168Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48487161T>C" "" "likely benign" "" "0000554628" "0" "10" "15" "48779530" "48779530" "subst" "0.0310706" "01804" "FBN1_000043" "g.48779530G>C" "" "" "" "FBN1(NM_000138.4):c.3442C>G (p.(Pro1148Ala), p.P1148A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48487333G>C" "" "benign" "" "0000554629" "0" "30" "15" "48779549" "48779549" "subst" "0.0000852785" "02329" "FBN1_000915" "g.48779549C>T" "" "" "" "FBN1(NM_000138.4):c.3423G>A (p.P1141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48487352C>T" "" "likely benign" "" "0000554630" "0" "90" "15" "48779599" "48779599" "subst" "0" "02326" "FBN1_000916" "g.48779599G>A" "" "" "" "FBN1(NM_000138.4):c.3373C>T (p.R1125*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48487402G>A" "" "pathogenic" "" "0000554631" "0" "90" "15" "48779599" "48779599" "subst" "0" "02329" "FBN1_000916" "g.48779599G>A" "" "" "" "FBN1(NM_000138.4):c.3373C>T (p.R1125*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48487402G>A" "" "pathogenic" "" "0000554632" "0" "30" "15" "48780299" "48780299" "subst" "0.000093398" "02329" "FBN1_000917" "g.48780299C>T" "" "" "" "FBN1(NM_000138.4):c.3337+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48488102C>T" "" "likely benign" "" "0000554633" "0" "90" "15" "48780427" "48780427" "subst" "0" "02329" "FBN1_000639" "g.48780427A>G" "" "" "" "FBN1(NM_000138.4):c.3220T>C (p.C1074R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48488230A>G" "" "pathogenic" "" "0000554634" "0" "90" "15" "48780621" "48780621" "subst" "0" "02329" "FBN1_000918" "g.48780621A>C" "" "" "" "FBN1(NM_000138.4):c.3152T>G (p.F1051C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48488424A>C" "" "pathogenic" "" "0000554635" "0" "50" "15" "48780654" "48780654" "subst" "0" "01943" "FBN1_000919" "g.48780654G>A" "" "" "" "FBN1(NM_000138.4):c.3119C>T (p.T1040I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48488457G>A" "" "VUS" "" "0000554636" "0" "10" "15" "48782040" "48782040" "del" "0.000857416" "01943" "FBN1_000920" "g.48782040del" "" "" "" "FBN1(NM_000138.4):c.3082+8delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48489843del" "" "benign" "" "0000554637" "0" "30" "15" "48782040" "48782040" "del" "0.000857416" "02329" "FBN1_000920" "g.48782040del" "" "" "" "FBN1(NM_000138.4):c.3082+8delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48489843del" "" "likely benign" "" "0000554638" "0" "10" "15" "48782042" "48782042" "subst" "0.0031744" "02326" "FBN1_000921" "g.48782042T>C" "" "" "" "FBN1(NM_000138.4):c.3082+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48489845T>C" "" "benign" "" "0000554639" "0" "10" "15" "48782042" "48782042" "subst" "0.0031744" "02329" "FBN1_000921" "g.48782042T>C" "" "" "" "FBN1(NM_000138.4):c.3082+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48489845T>C" "" "benign" "" "0000554640" "0" "30" "15" "48782052" "48782052" "subst" "0.0000977597" "01943" "FBN1_000922" "g.48782052G>A" "" "" "" "FBN1(NM_000138.4):c.3078C>T (p.F1026=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48489855G>A" "" "likely benign" "" "0000554641" "0" "30" "15" "48782061" "48782061" "subst" "0.00182256" "01943" "FBN1_000158" "g.48782061C>T" "" "" "" "FBN1(NM_000138.4):c.3069G>A (p.K1023=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48489864C>T" "" "likely benign" "" "0000554642" "0" "30" "15" "48782072" "48782072" "subst" "0.000459223" "01804" "FBN1_000659" "g.48782072T>C" "" "" "" "FBN1(NM_000138.4):c.3058A>G (p.T1020A, p.(Thr1020Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48489875T>C" "" "likely benign" "" "0000554643" "0" "50" "15" "48782072" "48782072" "subst" "0.000459223" "02326" "FBN1_000659" "g.48782072T>C" "" "" "" "FBN1(NM_000138.4):c.3058A>G (p.T1020A, p.(Thr1020Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48489875T>C" "" "VUS" "" "0000554644" "0" "30" "15" "48782072" "48782072" "subst" "0.000459223" "02329" "FBN1_000659" "g.48782072T>C" "" "" "" "FBN1(NM_000138.4):c.3058A>G (p.T1020A, p.(Thr1020Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48489875T>C" "" "likely benign" "" "0000554645" "0" "50" "15" "48782151" "48782151" "subst" "0.0000284259" "02329" "FBN1_000923" "g.48782151G>A" "" "" "" "FBN1(NM_000138.4):c.2979C>T (p.C993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48489954G>A" "" "VUS" "" "0000554646" "0" "30" "15" "48782174" "48782174" "subst" "0.00118987" "01804" "FBN1_000663" "g.48782174C>T" "" "" "" "FBN1(NM_000138.4):c.2956G>A (p.(Ala986Thr), p.A986T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48489977C>T" "" "likely benign" "" "0000554647" "0" "30" "15" "48782174" "48782174" "subst" "0.00118987" "02326" "FBN1_000663" "g.48782174C>T" "" "" "" "FBN1(NM_000138.4):c.2956G>A (p.(Ala986Thr), p.A986T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48489977C>T" "" "likely benign" "" "0000554648" "0" "10" "15" "48782174" "48782174" "subst" "0.00118987" "02329" "FBN1_000663" "g.48782174C>T" "" "" "" "FBN1(NM_000138.4):c.2956G>A (p.(Ala986Thr), p.A986T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48489977C>T" "" "benign" "" "0000554649" "0" "90" "15" "48782177" "48782177" "subst" "0" "02329" "FBN1_000665" "g.48782177C>T" "" "" "" "FBN1(NM_000138.4):c.2953G>A (p.G985R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48489980C>T" "" "pathogenic" "" "0000554650" "0" "30" "15" "48784800" "48784800" "del" "0" "01943" "FBN1_000924" "g.48784800del" "" "" "" "FBN1(NM_000138.4):c.2729-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48492603del" "" "likely benign" "" "0000554651" "0" "50" "15" "48786439" "48786439" "subst" "0" "02329" "FBN1_000925" "g.48786439C>T" "" "" "" "FBN1(NM_000138.4):c.2690G>A (p.G897D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48494242C>T" "" "VUS" "" "0000554652" "0" "90" "15" "48787324" "48787324" "subst" "0" "02329" "FBN1_000926" "g.48787324T>C" "" "" "" "FBN1(NM_000138.4):c.2673A>G (p.Q891=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48495127T>C" "" "pathogenic" "" "0000554653" "0" "90" "15" "48787329" "48787329" "subst" "0" "02329" "FBN1_000927" "g.48787329A>G" "" "" "" "FBN1(NM_000138.4):c.2668T>C (p.C890R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48495132A>G" "" "pathogenic" "" "0000554654" "0" "90" "15" "48787337" "48787337" "subst" "0" "02329" "FBN1_000928" "g.48787337C>T" "" "" "" "FBN1(NM_000138.4):c.2660G>A (p.C887Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48495140C>T" "" "pathogenic" "" "0000554655" "0" "70" "15" "48787352" "48787352" "subst" "0" "02329" "FBN1_000164" "g.48787352G>A" "" "" "" "FBN1(NM_000138.4):c.2645C>T (p.A882V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48495155G>A" "" "likely pathogenic" "" "0000554656" "0" "90" "15" "48787352" "48787352" "del" "0" "02329" "FBN1_000929" "g.48787352del" "" "" "" "FBN1(NM_000138.4):c.2645delC (p.A882Gfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48495155del" "" "pathogenic" "" "0000554657" "0" "90" "15" "48787438" "48787438" "subst" "0" "02329" "FBN1_000930" "g.48787438G>C" "" "" "" "FBN1(NM_000138.4):c.2559C>G (p.C853W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48495241G>C" "" "pathogenic" "" "0000554658" "0" "50" "15" "48787697" "48787697" "subst" "0.00000813703" "02329" "FBN1_000167" "g.48787697A>T" "" "" "" "FBN1(NM_000138.4):c.2508T>A (p.S836R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48495500A>T" "" "VUS" "" "0000554659" "0" "30" "15" "48787745" "48787745" "subst" "0" "02326" "FBN1_000931" "g.48787745G>C" "" "" "" "FBN1(NM_000138.4):c.2460C>G (p.V820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48495548G>C" "" "likely benign" "" "0000554660" "0" "90" "15" "48788302" "48788302" "subst" "0" "02329" "FBN1_000932" "g.48788302C>T" "" "" "" "FBN1(NM_000138.4):c.2414G>A (p.C805Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48496105C>T" "" "pathogenic" "" "0000554661" "0" "50" "15" "48788306" "48788306" "subst" "0" "02329" "FBN1_000933" "g.48788306T>C" "" "" "" "FBN1(NM_000138.4):c.2410A>G (p.T804A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48496109T>C" "" "VUS" "" "0000554662" "0" "50" "15" "48789496" "48789496" "subst" "0" "01943" "FBN1_000934" "g.48789496A>G" "" "" "" "FBN1(NM_000138.4):c.2260T>C (p.Y754H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48497299A>G" "" "VUS" "" "0000554663" "0" "30" "15" "48789528" "48789528" "subst" "0.0000162477" "02327" "FBN1_000719" "g.48789528C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48497331C>T" "" "likely benign" "" "0000554664" "0" "90" "15" "48789579" "48789579" "subst" "0" "02329" "FBN1_000935" "g.48789579T>C" "" "" "" "FBN1(NM_000138.4):c.2177A>G (p.E726G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48497382T>C" "" "pathogenic" "" "0000554665" "0" "30" "15" "48789603" "48789603" "dup" "0" "02329" "FBN1_000936" "g.48789603dup" "" "" "" "FBN1(NM_000138.4):c.2168-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48497406dup" "" "likely benign" "" "0000554666" "0" "50" "15" "48791235" "48791235" "subst" "0.00000406108" "01943" "FBN1_000937" "g.48791235G>A" "" "" "" "FBN1(NM_000138.4):c.2114C>T (p.A705V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48499038G>A" "" "VUS" "" "0000554667" "0" "50" "15" "48795992" "48795992" "subst" "0" "02329" "FBN1_000938" "g.48795992T>C" "" "" "" "FBN1(NM_000138.4):c.2105A>G (p.Q702R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48503795T>C" "" "VUS" "" "0000554668" "0" "10" "15" "48797192" "48797192" "subst" "0.00597729" "02326" "FBN1_000171" "g.48797192C>T" "" "" "" "FBN1(NM_000138.4):c.1960+30G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48504995C>T" "" "benign" "" "0000554669" "0" "50" "15" "48797297" "48797297" "subst" "0.0000162464" "02329" "FBN1_000939" "g.48797297C>T" "" "" "" "FBN1(NM_000138.4):c.1885G>A (p.V629I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48505100C>T" "" "VUS" "" "0000554670" "0" "90" "15" "48797303" "48797303" "subst" "0" "02329" "FBN1_000750" "g.48797303G>A" "" "" "" "FBN1(NM_000138.4):c.1879C>T (p.R627C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48505106G>A" "" "pathogenic" "" "0000554671" "0" "50" "15" "48797345" "48797345" "subst" "0" "02327" "FBN1_000940" "g.48797345C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48505148C>G" "" "VUS" "" "0000554672" "0" "50" "15" "48802279" "48802279" "subst" "0.0000162595" "01943" "FBN1_000764" "g.48802279G>A" "" "" "" "FBN1(NM_000138.4):c.1676C>T (p.A559V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48510082G>A" "" "VUS" "" "0000554673" "0" "30" "15" "48802289" "48802289" "subst" "0" "01804" "FBN1_000941" "g.48802289C>T" "" "" "" "FBN1(NM_000138.4):c.1666G>A (p.(Val556Met), p.V556M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48510092C>T" "" "likely benign" "" "0000554674" "0" "50" "15" "48802289" "48802289" "subst" "0" "02325" "FBN1_000941" "g.48802289C>T" "" "" "" "FBN1(NM_000138.4):c.1666G>A (p.(Val556Met), p.V556M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48510092C>T" "" "VUS" "" "0000554675" "0" "30" "15" "48802353" "48802353" "subst" "0.0000528481" "02327" "FBN1_000942" "g.48802353A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48510156A>G" "" "likely benign" "" "0000554676" "0" "50" "15" "48805757" "48805757" "subst" "0" "02329" "FBN1_000943" "g.48805757G>A" "" "" "" "FBN1(NM_000138.4):c.1577C>T (p.T526I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48513560G>A" "" "VUS" "" "0000554677" "0" "30" "15" "48805772" "48805772" "subst" "0.0000162537" "01804" "FBN1_000944" "g.48805772C>T" "" "" "" "FBN1(NM_000138.4):c.1562G>A (p.(Ser521Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48513575C>T" "" "likely benign" "" "0000554678" "0" "90" "15" "48805778" "48805778" "subst" "0" "02329" "FBN1_000945" "g.48805778T>C" "" "" "" "FBN1(NM_000138.4):c.1556A>G (p.Y519C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48513581T>C" "" "pathogenic" "" "0000554679" "0" "90" "15" "48805788" "48805788" "subst" "0" "02326" "FBN1_000946" "g.48805788G>A" "" "" "" "FBN1(NM_000138.4):c.1546C>T (p.R516*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48513591G>A" "" "pathogenic" "" "0000554680" "0" "30" "15" "48805804" "48805804" "subst" "0.0000203211" "02329" "FBN1_000176" "g.48805804C>T" "" "" "" "FBN1(NM_000138.4):c.1530G>A (p.S510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48513607C>T" "" "likely benign" "" "0000554681" "0" "30" "15" "48807620" "48807620" "subst" "0" "01943" "FBN1_000947" "g.48807620T>G" "" "" "" "FBN1(NM_000138.4):c.1432A>C (p.K478Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48515423T>G" "" "likely benign" "" "0000554682" "0" "30" "15" "48808418" "48808418" "subst" "0.0000203163" "02327" "FBN1_000180" "g.48808418G>A" "" "" "" "FBN1(NM_000138.4):c.1289C>T (p.P430L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48516221G>A" "" "likely benign" "" "0000554683" "0" "50" "15" "48808422" "48808422" "subst" "0" "02327" "FBN1_000948" "g.48808422G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48516225G>A" "" "VUS" "" "0000554686" "0" "30" "15" "48808532" "48808532" "subst" "0.0000040816" "01943" "FBN1_000029" "g.48808532G>A" "" "" "" "FBN1(NM_000138.4):c.1175C>T (p.P392L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48516335G>A" "" "likely benign" "" "0000554687" "0" "50" "15" "48808532" "48808532" "subst" "0.0000040816" "02325" "FBN1_000029" "g.48808532G>A" "" "" "" "FBN1(NM_000138.4):c.1175C>T (p.P392L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48516335G>A" "" "VUS" "" "0000554688" "0" "50" "15" "48808532" "48808532" "subst" "0.0000040816" "02326" "FBN1_000029" "g.48808532G>A" "" "" "" "FBN1(NM_000138.4):c.1175C>T (p.P392L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48516335G>A" "" "VUS" "" "0000554689" "0" "50" "15" "48812940" "48812940" "del" "0" "02327" "FBN1_000951" "g.48812940del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48520743del" "" "VUS" "" "0000554690" "0" "10" "15" "48812974" "48812974" "subst" "0.00144659" "02329" "FBN1_000952" "g.48812974C>T" "" "" "" "FBN1(NM_000138.4):c.1029G>A (p.G343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48520777C>T" "" "benign" "" "0000554691" "0" "50" "15" "48812976" "48812976" "subst" "0.00018693" "02326" "FBN1_000211" "g.48812976C>T" "" "" "" "FBN1(NM_000138.4):c.1027G>A (p.G343R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48520779C>T" "" "VUS" "" "0000554692" "0" "50" "15" "48812992" "48812992" "subst" "0" "02327" "FBN1_000953" "g.48812992G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48520795G>T" "" "VUS" "" "0000554693" "0" "30" "15" "48813004" "48813004" "subst" "0" "01943" "FBN1_000954" "g.48813004T>G" "" "" "" "FBN1(NM_000138.4):c.999A>C (p.P333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48520807T>G" "" "likely benign" "" "0000554694" "0" "30" "15" "48813004" "48813004" "subst" "0" "02327" "FBN1_000954" "g.48813004T>G" "" "" "" "FBN1(NM_000138.4):c.999A>C (p.P333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48520807T>G" "" "likely benign" "" "0000554695" "0" "50" "15" "48813009" "48813009" "subst" "0.00000406517" "02327" "FBN1_000955" "g.48813009G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48520812G>A" "" "VUS" "" "0000554696" "0" "90" "15" "48818329" "48818329" "dup" "0" "02329" "FBN1_000956" "g.48818329dup" "" "" "" "FBN1(NM_000138.4):c.986dupT (p.D330Rfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48526132dup" "" "pathogenic" "" "0000554697" "0" "50" "15" "48818344" "48818344" "subst" "0" "01943" "FBN1_000957" "g.48818344T>C" "" "" "" "FBN1(NM_000138.4):c.971A>G (p.D324G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48526147T>C" "" "VUS" "" "0000554698" "0" "30" "15" "48818397" "48818397" "subst" "0" "01943" "FBN1_000958" "g.48818397G>A" "" "" "" "FBN1(NM_000138.4):c.918C>T (p.N306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48526200G>A" "" "likely benign" "" "0000554699" "0" "50" "15" "48818413" "48818413" "subst" "0.000190913" "01943" "FBN1_000801" "g.48818413C>A" "" "" "" "FBN1(NM_000138.4):c.902G>T (p.G301V, p.(Gly301Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48526216C>A" "" "VUS" "" "0000554700" "0" "30" "15" "48818413" "48818413" "subst" "0.000190913" "01804" "FBN1_000801" "g.48818413C>A" "" "" "" "FBN1(NM_000138.4):c.902G>T (p.G301V, p.(Gly301Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48526216C>A" "" "likely benign" "" "0000554701" "0" "30" "15" "48818413" "48818413" "subst" "0.000190913" "02329" "FBN1_000801" "g.48818413C>A" "" "" "" "FBN1(NM_000138.4):c.902G>T (p.G301V, p.(Gly301Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48526216C>A" "" "likely benign" "" "0000554702" "0" "50" "15" "48818452" "48818452" "subst" "0.0000365756" "02325" "FBN1_000959" "g.48818452T>C" "" "" "" "FBN1(NM_000138.4):c.863A>G (p.D288G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48526255T>C" "" "VUS" "" "0000554703" "0" "50" "15" "48826343" "48826343" "subst" "0.0000081217" "02327" "FBN1_000960" "g.48826343C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48534146C>T" "" "VUS" "" "0000554704" "0" "30" "15" "48826356" "48826356" "subst" "0.00108838" "01943" "FBN1_000961" "g.48826356A>G" "" "" "" "FBN1(NM_000138.4):c.783T>C (p.N261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48534159A>G" "" "likely benign" "" "0000554705" "0" "10" "15" "48826356" "48826356" "subst" "0.00108838" "02329" "FBN1_000961" "g.48826356A>G" "" "" "" "FBN1(NM_000138.4):c.783T>C (p.N261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48534159A>G" "" "benign" "" "0000554707" "0" "90" "15" "48829826" "48829826" "subst" "0" "02329" "FBN1_000074" "g.48829826G>A" "" "" "" "FBN1(NM_000138.4):c.718C>T (p.R240C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48537629G>A" "" "pathogenic" "" "0000554708" "0" "50" "15" "48829850" "48829850" "subst" "0" "02327" "FBN1_000963" "g.48829850G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48537653G>A" "" "VUS" "" "0000554709" "0" "50" "15" "48829972" "48829972" "subst" "0.00000812401" "02327" "FBN1_000964" "g.48829972C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48537775C>A" "" "VUS" "" "0000554710" "0" "30" "15" "48888476" "48888476" "subst" "0.000333206" "01943" "FBN1_000965" "g.48888476T>C" "" "" "" "FBN1(NM_000138.4):c.538+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48596279T>C" "" "likely benign" "" "0000554711" "0" "30" "15" "48888476" "48888476" "subst" "0.000333206" "02329" "FBN1_000965" "g.48888476T>C" "" "" "" "FBN1(NM_000138.4):c.538+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48596279T>C" "" "likely benign" "" "0000554712" "0" "90" "15" "48892339" "48892339" "subst" "0" "02329" "FBN1_000966" "g.48892339G>A" "" "" "" "FBN1(NM_000138.4):c.439C>T (p.Q147*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48600142G>A" "" "pathogenic" "" "0000554713" "0" "50" "15" "48902943" "48902943" "subst" "0" "02326" "FBN1_000967" "g.48902943A>G" "" "" "" "FBN1(NM_000138.4):c.328T>C (p.S110P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48610746A>G" "" "VUS" "" "0000554714" "0" "50" "15" "48936933" "48936933" "subst" "0" "02326" "FBN1_000968" "g.48936933C>T" "" "" "" "FBN1(NM_000138.4):c.34G>A (p.G12R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48644736C>T" "" "VUS" "" "0000578029" "0" "50" "15" "48737657" "48737657" "subst" "0" "03367" "FBN1_000892" "g.48737657C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48445460C>A" "" "VUS" "" "0000615355" "0" "30" "15" "48703571" "48703571" "subst" "0.0000122172" "01943" "FBN1_000087" "g.48703571C>G" "" "" "" "FBN1(NM_000138.4):c.8232G>C (p.Q2744H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48411374C>G" "" "likely benign" "" "0000615356" "0" "30" "15" "48704816" "48704816" "subst" "0.000722878" "01804" "FBN1_000246" "g.48704816G>A" "" "" "" "FBN1(NM_000138.4):c.8176C>T (p.R2726W, p.(Arg2726Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48412619G>A" "" "likely benign" "" "0000615357" "0" "90" "15" "48707956" "48707956" "subst" "0" "02327" "FBN1_000280" "g.48707956C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48415759C>T" "" "pathogenic" "" "0000615358" "0" "10" "15" "48712876" "48712876" "subst" "0.0262395" "01943" "FBN1_000092" "g.48712876T>G" "" "" "" "FBN1(NM_000138.4):c.7819+8A>C (, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48420679T>G" "" "benign" "" "0000615359" "0" "30" "15" "48713852" "48713852" "subst" "0" "01943" "FBN1_000973" "g.48713852C>A" "" "" "" "FBN1(NM_000138.4):c.7602G>T (p.L2534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48421655C>A" "" "likely benign" "" "0000615360" "0" "30" "15" "48713882" "48713882" "subst" "0" "01943" "FBN1_000974" "g.48713882A>G" "" "" "" "FBN1(NM_000138.4):c.7572T>C (p.D2524=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48421685A>G" "" "likely benign" "" "0000615361" "0" "50" "15" "48717640" "48717640" "subst" "0.0000650264" "02327" "FBN1_000100" "g.48717640T>C" "" "" "" "FBN1(NM_000138.4):c.7379A>G (p.K2460R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48425443T>C" "" "VUS" "" "0000615362" "0" "50" "15" "48719896" "48719896" "subst" "0.000191399" "01943" "FBN1_000334" "g.48719896C>T" "" "" "" "FBN1(NM_000138.4):c.7072G>A (p.V2358I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48427699C>T" "" "VUS" "" "0000615363" "0" "30" "15" "48722902" "48722902" "subst" "0.000239773" "02327" "FBN1_000878" "g.48722902C>T" "" "" "" "FBN1(NM_000138.4):c.6837G>A (p.G2279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48430705C>T" "" "likely benign" "" "0000615364" "0" "50" "15" "48726872" "48726872" "subst" "0" "02327" "FBN1_000975" "g.48726872C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48434675C>T" "" "VUS" "" "0000615365" "0" "50" "15" "48729584" "48729584" "subst" "0.0000040795" "02325" "FBN1_000884" "g.48729584T>A" "" "" "" "FBN1(NM_000138.4):c.6314A>T (p.E2105V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48437387T>A" "" "VUS" "" "0000615366" "0" "50" "15" "48729976" "48729976" "subst" "0.000211835" "02327" "FBN1_000121" "g.48729976G>A" "" "" "" "FBN1(NM_000138.4):c.6302C>T (p.T2101M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48437779G>A" "" "VUS" "" "0000615367" "0" "30" "15" "48744911" "48744913" "del" "0" "02327" "FBN1_000895" "g.48744911_48744913del" "" "" "" "FBN1(NM_000138.4):c.5423-30_5423-28delCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48452714_48452716del" "" "likely benign" "" "0000615368" "0" "30" "15" "48756077" "48756077" "subst" "0" "02326" "FBN1_000976" "g.48756077G>C" "" "" "" "FBN1(NM_000138.4):c.5065+19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48463880G>C" "" "likely benign" "" "0000615369" "0" "50" "15" "48760346" "48760346" "dup" "0" "02327" "FBN1_000977" "g.48760346dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48468149dup" "" "VUS" "" "0000615370" "0" "90" "15" "48762920" "48762920" "del" "0" "02327" "FBN1_000978" "g.48762920del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48470723del" "" "pathogenic" "" "0000615371" "0" "30" "15" "48762959" "48762959" "subst" "0.00000406884" "02327" "FBN1_000979" "g.48762959G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48470762G>C" "" "likely benign" "" "0000615372" "0" "30" "15" "48764870" "48764870" "subst" "0.000109664" "02325" "FBN1_000558" "g.48764870A>C" "" "" "" "FBN1(NM_000138.4):c.4214T>G (p.L1405R, p.(Leu1405Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48472673A>C" "" "likely benign" "" "0000615373" "0" "30" "15" "48776016" "48776016" "subst" "0.00000406838" "02327" "FBN1_000982" "g.48776016T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48483819T>C" "" "likely benign" "" "0000615374" "0" "10" "15" "48780353" "48780353" "subst" "0.00803655" "01943" "FBN1_000156" "g.48780353G>A" "" "" "" "FBN1(NM_000138.4):c.3294C>T (p.D1098=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48488156G>A" "" "benign" "" "0000615375" "0" "30" "15" "48782072" "48782072" "subst" "0.000459223" "01943" "FBN1_000659" "g.48782072T>C" "" "" "" "FBN1(NM_000138.4):c.3058A>G (p.T1020A, p.(Thr1020Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48489875T>C" "" "likely benign" "" "0000615376" "0" "50" "15" "48787397" "48787397" "subst" "0.0000649783" "02327" "FBN1_000984" "g.48787397T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48495200T>C" "" "VUS" "" "0000615377" "0" "50" "15" "48789489" "48789489" "subst" "0.00000812275" "01804" "FBN1_000985" "g.48789489A>G" "" "" "" "FBN1(NM_000138.4):c.2267T>C (p.(Val756Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48497292A>G" "" "VUS" "" "0000615378" "0" "30" "15" "48789550" "48789550" "subst" "0.0000040622" "02325" "FBN1_000721" "g.48789550T>C" "" "" "" "FBN1(NM_000138.4):c.2206A>G (p.N736D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48497353T>C" "" "likely benign" "" "0000615379" "0" "30" "15" "48789581" "48789581" "subst" "0.000410346" "01943" "FBN1_000986" "g.48789581A>G" "" "" "" "FBN1(NM_000138.4):c.2175T>C (p.N725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48497384A>G" "" "likely benign" "" "0000615380" "0" "50" "15" "48800899" "48800899" "subst" "0" "02327" "FBN1_000987" "g.48800899T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48508702T>C" "" "VUS" "" "0000615381" "0" "50" "15" "48812967" "48812967" "subst" "0" "02327" "FBN1_000799" "g.48812967A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48520770A>G" "" "VUS" "" "0000615382" "0" "50" "15" "48818452" "48818452" "subst" "0.0000365756" "01943" "FBN1_000959" "g.48818452T>C" "" "" "" "FBN1(NM_000138.4):c.863A>G (p.D288G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48526255T>C" "" "VUS" "" "0000615384" "0" "70" "15" "48829901" "48829901" "subst" "0" "02327" "FBN1_000989" "g.48829901G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48537704G>A" "" "likely pathogenic" "" "0000615385" "0" "30" "15" "48936793" "48936793" "subst" "0" "01943" "FBN1_000990" "g.48936793G>C" "" "" "" "FBN1(NM_000138.4):c.164+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48644596G>C" "" "likely benign" "" "0000615386" "0" "30" "15" "48936888" "48936888" "subst" "0.000471074" "01804" "FBN1_000201" "g.48936888C>T" "" "" "" "FBN1(NM_000138.4):c.79G>A (p.A27T, p.(Ala27Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48644691C>T" "" "likely benign" "" "0000620308" "0" "50" "15" "48829968" "48829968" "subst" "0" "01741" "FBN1_000970" "g.48829968G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.48537771G>C" "" "VUS" "" "0000620309" "0" "50" "15" "48726803" "48726803" "subst" "0" "01741" "FBN1_000969" "g.48726803T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.48434606T>C" "" "VUS" "" "0000620310" "0" "50" "15" "48719849" "48719849" "subst" "0" "01741" "FBN1_000971" "g.48719849G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.48427652G>A" "" "VUS" "" "0000623242" "0" "30" "15" "48704910" "48704910" "subst" "0" "02326" "FBN1_000861" "g.48704910T>G" "" "" "" "FBN1(NM_000138.4):c.8082A>C (p.R2694=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48412713T>G" "" "likely benign" "" "0000623243" "0" "70" "15" "48713770" "48713770" "subst" "0" "01943" "FBN1_000972" "g.48713770C>A" "" "" "" "FBN1(NM_000138.4):c.7684G>T (p.G2562C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48421573C>A" "" "likely pathogenic" "" "0000623245" "0" "50" "15" "48720623" "48720623" "subst" "0.0000162583" "01943" "FBN1_000348" "g.48720623C>T" "" "" "" "FBN1(NM_000138.4):c.6917G>A (p.R2306H, p.(Arg2306His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48428426C>T" "" "VUS" "" "0000623247" "0" "50" "15" "48762846" "48762846" "subst" "0.00000812929" "02325" "FBN1_000533" "g.48762846C>T" "" "" "" "FBN1(NM_000138.4):c.4444G>A (p.G1482S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48470649C>T" "" "VUS" "" "0000623248" "0" "30" "15" "48766475" "48766475" "subst" "0" "02326" "FBN1_000980" "g.48766475G>A" "" "" "" "FBN1(NM_000138.4):c.4187C>T (p.T1396I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48474278G>A" "" "likely benign" "" "0000623249" "0" "90" "15" "48766724" "48766724" "subst" "0" "01943" "FBN1_000981" "g.48766724C>A" "" "" "" "FBN1(NM_000138.4):c.4087+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48474527C>A" "" "pathogenic" "" "0000623250" "0" "90" "15" "48782270" "48782270" "subst" "0" "01943" "FBN1_000983" "g.48782270G>A" "" "" "" "FBN1(NM_000138.4):c.2860C>T (p.R954C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48490073G>A" "" "pathogenic" "" "0000623251" "0" "30" "15" "48818478" "48818478" "subst" "0.00000407286" "02325" "FBN1_000988" "g.48818478G>A" "" "" "" "FBN1(NM_000138.4):c.863-26C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48526281G>A" "" "likely benign" "" "0000629180" "1" "90" "15" "48905279" "48905279" "subst" "0" "00006" "FBN1_000991" "g.48905279A>G" "" "{PMID:Wei 2011:22216297}" "" "" "" "Germline" "" "" "0" "" "" "g.48613082A>G" "" "pathogenic (dominant)" "" "0000647200" "0" "70" "15" "48707746" "48707746" "subst" "0" "01164" "FBN1_000254" "g.48707746G>A" "" "" "" "" "ACMG: PM1,PM2,PM6,PP3; Palz et al. 2000. Am J Med Genet 91: 212-21; Comeglio et al. 2007. Hum Mutat 28: 928; Grossfield et al. 1993. Am J Hum Genet 53: 1167" "Germline" "" "rs794728283" "0" "" "" "g.48415549G>A" "" "likely pathogenic" "ACMG" "0000649089" "1" "70" "15" "48703387" "48703392" "del" "0" "03575" "FBN1_000992" "g.48703387_48703392del" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs193922246}" "Germline" "" "rs193922246" "0" "" "" "g.48411190_48411195del" "" "likely pathogenic" "" "0000649090" "1" "70" "15" "48719836" "48719836" "subst" "0" "03575" "FBN1_000327" "g.48719836A>G" "0/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs794728267}" "Germline" "" "rs794728267" "0" "" "" "g.48427639A>G" "" "likely pathogenic" "" "0000649091" "1" "50" "15" "48719896" "48719896" "subst" "0.000191399" "03575" "FBN1_000334" "g.48719896C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs140537304}" "Germline" "" "rs140537304" "0" "" "" "g.48427699C>T" "" "VUS" "" "0000649092" "1" "50" "15" "48729206" "48729206" "subst" "0.0000081369" "03575" "FBN1_000393" "g.48729206G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs76702162}" "Germline" "" "rs76702162" "0" "" "" "g.48437009G>A" "" "VUS" "" "0000649093" "1" "70" "15" "48729236" "48729236" "subst" "0" "03575" "FBN1_000399" "g.48729236C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794728249}" "Germline" "" "rs794728249" "0" "" "" "g.48437039C>T" "" "likely pathogenic" "" "0000649094" "1" "50" "15" "48729965" "48729965" "subst" "0" "03575" "FBN1_000407" "g.48729965C>G" "1/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794728247}" "Germline" "" "rs794728247" "0" "" "" "g.48437768C>G" "" "VUS" "" "0000649095" "1" "70" "15" "48737602" "48737602" "del" "0" "03575" "FBN1_000993" "g.48737602del" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs727504315}" "Germline" "" "rs727504315" "0" "" "" "g.48445405del" "" "likely pathogenic" "" "0000649096" "1" "90" "15" "48738945" "48738945" "subst" "0" "03575" "FBN1_000447" "g.48738945A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794728238}" "Germline" "" "rs794728238" "0" "" "" "g.48446748A>G" "" "pathogenic" "" "0000649097" "1" "70" "15" "48741084" "48741084" "subst" "0" "03575" "FBN1_000465" "g.48741084T>C" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs193922214}" "Germline" "" "rs193922214" "0" "" "" "g.48448887T>C" "" "likely pathogenic" "" "0000649098" "1" "70" "15" "48744867" "48744867" "subst" "0" "03575" "FBN1_000994" "g.48744867G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs397515821}" "Germline" "" "rs397515821" "0" "" "" "g.48452670G>A" "" "likely pathogenic" "" "0000649099" "1" "90" "15" "48760261" "48760261" "subst" "0" "03575" "FBN1_000995" "g.48760261G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794728228}" "Germline" "" "rs794728228" "0" "" "" "g.48468064G>A" "" "pathogenic" "" "0000649100" "1" "70" "15" "48762955" "48762955" "subst" "0" "03575" "FBN1_000996" "g.48762955T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794728216}" "Germline" "" "rs794728216" "0" "" "" "g.48470758T>C" "" "likely pathogenic" "" "0000649101" "1" "50" "15" "48766811" "48766811" "subst" "0.0000040653" "03575" "FBN1_000576" "g.48766811C>T" "1/2773 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs191989961}" "Germline" "" "rs191989961" "0" "" "" "g.48474614C>T" "" "VUS" "" "0000649102" "1" "70" "15" "48776015" "48776015" "subst" "0" "03575" "FBN1_000586" "g.48776015C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs794728210}" "Germline" "" "rs794728210" "0" "" "" "g.48483818C>T" "" "likely pathogenic" "" "0000649103" "1" "90" "15" "48779508" "48779508" "subst" "0" "03575" "FBN1_000998" "g.48779508C>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs397515792}" "Germline" "" "rs397515792" "0" "" "" "g.48487311C>A" "" "pathogenic" "" "0000649104" "1" "10" "15" "48779530" "48779530" "subst" "0.0310706" "03575" "FBN1_000043" "g.48779530G>C" "170/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "170 heterozygous; {DB:CLININrs140598}" "Germline" "" "rs140598" "0" "" "" "g.48487333G>C" "" "benign" "" "0000649105" "1" "30" "15" "48780353" "48780353" "subst" "0.00803655" "03575" "FBN1_000156" "g.48780353G>A" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs140587}" "Germline" "" "rs140587" "0" "" "" "g.48488156G>A" "" "likely benign" "" "0000649106" "1" "50" "15" "48782072" "48782072" "subst" "0.000459223" "03575" "FBN1_000659" "g.48782072T>C" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs111801777}" "Germline" "" "rs111801777" "0" "" "" "g.48489875T>C" "" "VUS" "" "0000649107" "1" "30" "15" "48782174" "48782174" "subst" "0.00118987" "03575" "FBN1_000663" "g.48782174C>T" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs112287730}" "Germline" "" "rs112287730" "0" "" "" "g.48489977C>T" "" "likely benign" "" "0000649108" "1" "70" "15" "48782188" "48782188" "subst" "0" "03575" "FBN1_000667" "g.48782188C>G" "5/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs727505110}" "Germline" "" "rs727505110" "0" "" "" "g.48489991C>G" "" "likely pathogenic" "" "0000649109" "1" "70" "15" "48784679" "48784679" "del" "0" "03575" "FBN1_000999" "g.48784679del" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs397515781}" "Germline" "" "rs397515781" "0" "" "" "g.48492482del" "" "likely pathogenic" "" "0000649110" "1" "90" "15" "48787326" "48787326" "subst" "0" "03575" "FBN1_001000" "g.48787326G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794728196}" "Germline" "" "rs794728196" "0" "" "" "g.48495129G>A" "" "pathogenic" "" "0000649111" "1" "70" "15" "48787352" "48787352" "subst" "0" "03575" "FBN1_000164" "g.48787352G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794728195}" "Germline" "" "rs794728195" "0" "" "" "g.48495155G>A" "" "likely pathogenic" "" "0000649112" "1" "70" "15" "48787709" "48787709" "subst" "0" "03575" "FBN1_000699" "g.48787709A>C" "7/2774 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs397515776}" "Germline" "" "rs397515776" "0" "" "" "g.48495512A>C" "" "likely pathogenic" "" "0000649113" "1" "50" "15" "48788413" "48788413" "subst" "0" "03575" "FBN1_000714" "g.48788413T>G" "0/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs794728189}" "Germline" "" "rs794728189" "0" "" "" "g.48496216T>G" "" "VUS" "" "0000649114" "1" "50" "15" "48797306" "48797306" "subst" "0" "03575" "FBN1_001001" "g.48797306C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794728177}" "Germline" "" "rs794728177" "0" "" "" "g.48505109C>A" "" "VUS" "" "0000649115" "1" "90" "15" "48805749" "48805749" "subst" "0" "03575" "FBN1_001002" "g.48805749G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs137854476}" "Germline" "" "rs137854476" "0" "" "" "g.48513552G>A" "" "pathogenic" "" "0000649116" "1" "90" "15" "48812908" "48812908" "subst" "0" "03575" "FBN1_001003" "g.48812908G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs397515755}" "Germline" "" "rs397515755" "0" "" "" "g.48520711G>T" "" "pathogenic" "" "0000649117" "1" "70" "15" "48829826" "48829826" "subst" "0" "03575" "FBN1_000074" "g.48829826G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs137854480}" "Germline" "" "rs137854480" "0" "" "" "g.48537629G>A" "" "likely pathogenic" "" "0000653009" "1" "30" "15" "48779348" "48779348" "subst" "0.0000203047" "03575" "FBN1_000997" "g.48779348G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs775417975}" "Germline" "" "rs775417975" "0" "" "" "g.48487151G>A" "" "likely benign" "" "0000653010" "1" "90" "15" "48802291" "48802291" "subst" "0" "03575" "FBN1_000766" "g.48802291C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794728172}" "Germline" "" "rs794728172" "0" "" "" "g.48510094C>A" "" "pathogenic" "" "0000653125" "1" "50" "15" "48707785" "48707785" "subst" "0.0000203922" "03575" "FBN1_000262" "g.48707785C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs149062442}" "Germline" "" "rs149062442" "0" "" "" "g.48415588C>T" "" "VUS" "" "0000653126" "1" "70" "15" "48738992" "48738992" "subst" "0" "03575" "FBN1_000453" "g.48738992C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794728237}" "Germline" "" "rs794728237" "0" "" "" "g.48446795C>T" "" "likely pathogenic" "" "0000653127" "1" "70" "15" "48764825" "48764825" "subst" "0" "03575" "FBN1_000554" "g.48764825C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs397515804}" "Germline" "" "rs397515804" "0" "" "" "g.48472628C>T" "" "likely pathogenic" "" "0000653128" "1" "70" "15" "48805782" "48805782" "subst" "0" "03575" "FBN1_000776" "g.48805782C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794728168}" "Germline" "" "rs794728168" "0" "" "" "g.48513585C>T" "" "likely pathogenic" "" "0000653129" "1" "90" "15" "48830006" "48830006" "subst" "0" "03575" "FBN1_001004" "g.48830006C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794728161}" "Germline" "" "rs794728161" "0" "" "" "g.48537809C>T" "" "pathogenic" "" "0000653130" "1" "90" "15" "48936802" "48936802" "subst" "0" "03575" "FBN1_001005" "g.48936802C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794728213}" "Germline" "" "rs794728213" "0" "" "" "g.48644605C>T" "" "pathogenic" "" "0000657593" "0" "50" "15" "48703266" "48703266" "subst" "0.0000121944" "01943" "FBN1_001006" "g.48703266T>C" "" "" "" "FBN1(NM_000138.4):c.8537A>G (p.E2846G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48411069T>C" "" "VUS" "" "0000657594" "0" "30" "15" "48720910" "48720910" "subst" "0" "02329" "FBN1_001007" "g.48720910G>A" "" "" "" "FBN1(NM_000138.4):c.6872-242C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48428713G>A" "" "likely benign" "" "0000657595" "0" "50" "15" "48748900" "48748900" "subst" "0" "02327" "FBN1_001008" "g.48748900C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48456703C>G" "" "VUS" "" "0000657596" "0" "30" "15" "48779368" "48779368" "subst" "0" "01943" "FBN1_001009" "g.48779368G>A" "" "" "" "FBN1(NM_000138.4):c.3493C>T (p.L1165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48487171G>A" "" "likely benign" "" "0000657597" "0" "30" "15" "48788429" "48788434" "del" "0" "02325" "FBN1_001010" "g.48788429_48788434del" "" "" "" "FBN1(NM_000138.4):c.2294-9_2294-4delACTTTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48496232_48496237del" "" "likely benign" "" "0000657598" "0" "50" "15" "48797287" "48797287" "subst" "0" "01943" "FBN1_001011" "g.48797287T>C" "" "" "" "FBN1(NM_000138.4):c.1895A>G (p.D632G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48505090T>C" "" "VUS" "" "0000657599" "0" "30" "15" "48805482" "48805482" "subst" "0" "02329" "FBN1_001012" "g.48805482A>G" "" "" "" "FBN1(NM_000138.4):c.1588+264T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48513285A>G" "" "likely benign" "" "0000657600" "0" "30" "15" "48892251" "48892251" "subst" "0" "02329" "FBN1_001013" "g.48892251G>C" "" "" "" "FBN1(NM_000138.4):c.442+85C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48600054G>C" "" "likely benign" "" "0000657601" "0" "30" "15" "48902663" "48902663" "subst" "0" "02329" "FBN1_001014" "g.48902663C>T" "" "" "" "FBN1(NM_000138.4):c.346+262G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48610466C>T" "" "likely benign" "" "0000659801" "0" "70" "15" "48760300" "48760300" "subst" "0" "03644" "FBN1_001016" "g.48760300C>T" "" "Author 2020, submitted" "" "" "" "De novo" "-" "" "0" "" "" "g.48468103C>T" "" "pathogenic (dominant)" "ACMG" "0000659802" "11" "70" "15" "48764851" "48764851" "del" "0" "03644" "FBN1_001017" "g.48764851del" "" "Author 2020, submitted" "" "4234delC" "" "Germline" "yes" "" "0" "" "" "g.48472654del" "" "pathogenic (dominant)" "ACMG" "0000659803" "11" "70" "15" "48782144" "48782144" "subst" "0" "03644" "FBN1_001015" "g.48782144A>C" "" "Author 2020, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.48489947A>C" "" "pathogenic (dominant)" "ACMG" "0000659805" "11" "90" "15" "48780309" "48780309" "subst" "0" "03644" "FBN1_001022" "g.48780309C>G" "" "Author 2020, submitted" "" "g.162677G>C" "" "Germline" "yes" "" "0" "" "" "g.48488112C>G" "" "pathogenic (dominant)" "ACMG" "0000659806" "21" "90" "15" "48780331" "48780331" "subst" "0.00000406068" "03644" "FBN1_001023" "g.48780331T>C" "" "Author 2020, submitted" "" "g.162655A>G" "" "Germline" "yes" "" "0" "" "" "g.48488134T>C" "" "pathogenic (dominant)" "ACMG" "0000659807" "21" "90" "15" "48888539" "48888539" "subst" "0" "03644" "FBN1_000031" "g.48888539C>T" "" "Author 2020, submitted" "" "g.54447G>A" "" "Germline" "yes" "" "0" "" "" "g.48596342C>T" "" "pathogenic (dominant)" "ACMG" "0000659808" "11" "90" "15" "48764851" "48764851" "del" "0" "03644" "FBN1_001017" "g.48764851del" "" "Author 2020, submitted" "" "4234delC, g.178136del" "" "Germline" "yes" "" "0" "" "" "g.48472654del" "" "pathogenic (dominant)" "ACMG" "0000659809" "11" "90" "15" "48718014" "48718014" "subst" "0" "03644" "FBN1_001018" "g.48718014A>T" "" "Author 2020, submitted" "" "g.224972T>A" "" "Germline" "yes" "" "0" "" "" "g.48425817A>T" "" "pathogenic (dominant)" "ACMG" "0000659810" "11" "90" "15" "48762894" "48762894" "subst" "0" "03644" "FBN1_001021" "g.48762894C>A" "" "Author 2020, submitted" "" "g.180092G>T" "" "Germline" "yes" "" "0" "" "" "g.48470697C>A" "" "pathogenic (dominant)" "ACMG" "0000659811" "21" "90" "15" "48738951" "48738951" "subst" "0" "03644" "FBN1_001020" "g.48738951A>T" "" "Author 2020, submitted" "" "g.204035T>A" "" "Germline" "yes" "" "0" "" "" "g.48446754A>T" "" "pathogenic (dominant)" "ACMG" "0000659812" "11" "90" "15" "48734017" "48734017" "subst" "0" "03644" "FBN1_001019" "g.48734017C>A" "" "Author 2020, submitted" "" "g.208969G>T" "" "Germline" "yes" "" "0" "" "" "g.48441820C>A" "" "pathogenic (dominant)" "ACMG" "0000659813" "11" "90" "15" "48829834" "48829834" "subst" "0" "03644" "FBN1_001024" "g.48829834G>T" "" "Author 2020, submitted" "" "g.113152C>A" "" "Germline" "yes" "" "0" "" "" "g.48537637G>T" "" "likely pathogenic (dominant)" "ACMG" "0000659931" "21" "90" "15" "48757796" "48757796" "subst" "0" "03644" "FBN1_001028" "g.48757796G>C" "" "Author 2020, submitted" "" "g.185190C>G" "" "Germline" "" "" "0" "" "" "g.48465599G>C" "" "pathogenic (dominant)" "ACMG" "0000660047" "11" "90" "15" "48766535" "48766535" "subst" "0" "03644" "FBN1_001027" "g.48766535T>C" "" "Author 2020, submitted" "" "g.176451A>G" "" "Germline" "yes" "" "0" "" "" "g.48474338T>C" "" "likely pathogenic (dominant)" "ACMG" "0000660048" "11" "90" "15" "48766535" "48766535" "subst" "0" "03644" "FBN1_001027" "g.48766535T>C" "" "Author 2020, submitted" "" "g.176451A>G" "" "Germline" "yes" "" "0" "" "" "g.48474338T>C" "" "likely pathogenic (dominant)" "ACMG" "0000660049" "0" "90" "15" "48762894" "48762894" "subst" "0" "03644" "FBN1_001021" "g.48762894C>A" "" "Author 2020, submitted" "" "g.180092G>T" "" "De novo" "-" "" "0" "" "" "g.48470697C>A" "" "likely pathogenic (dominant)" "ACMG" "0000660050" "0" "90" "15" "48892362" "48892362" "subst" "0" "03644" "FBN1_001025" "g.48892362C>A" "" "Author 2020, submitted" "" "g.48892362C>A" "" "De novo" "-" "" "0" "" "" "g.48600165C>A" "" "likely pathogenic (dominant)" "ACMG" "0000660051" "11" "90" "15" "48796010" "48796010" "subst" "0" "03644" "FBN1_001026" "g.48796010C>T" "" "Author 2020, submitted" "" "g.146976G>A" "" "Germline" "yes" "" "0" "" "" "g.48503813C>T" "" "pathogenic (dominant)" "ACMG" "0000660052" "11" "90" "15" "48762894" "48762894" "subst" "0" "03644" "FBN1_001021" "g.48762894C>A" "" "Author 2020, submitted" "" "g.180092G>T" "" "Germline" "yes" "" "0" "" "" "g.48470697C>A" "" "likely pathogenic (dominant)" "ACMG" "0000660053" "0" "90" "15" "48725177" "48725177" "subst" "0" "03644" "FBN1_001029" "g.48725177C>T" "" "Author 2020, submitted" "" "g.217809G>A" "" "De novo" "-" "" "0" "" "" "g.48432980C>T" "" "pathogenic (dominant)" "ACMG" "0000660054" "0" "90" "15" "48718014" "48718014" "subst" "0" "03644" "FBN1_001018" "g.48718014A>T" "" "Author 2020, submitted" "" "g.224972T>A" "" "De novo" "yes" "" "0" "" "" "g.48425817A>T" "" "pathogenic (dominant)" "ACMG" "0000660055" "0" "90" "15" "48782144" "48782144" "subst" "0" "03644" "FBN1_001015" "g.48782144A>C" "" "Author 2020, submitted" "" "g.160842T>G" "" "De novo" "yes" "" "0" "" "" "g.48489947A>C" "" "pathogenic (dominant)" "ACMG" "0000660056" "0" "90" "15" "48888539" "48888539" "subst" "0" "03644" "FBN1_000031" "g.48888539C>T" "" "Author 2020, submitted" "" "g.54447G>A" "" "Germline" "yes" "" "0" "" "" "g.48596342C>T" "" "pathogenic (dominant)" "ACMG" "0000660449" "0" "70" "15" "48729544" "48729544" "subst" "0.00000407541" "01164" "FBN1_001031" "g.48729544G>A" "" "" "" "" "ACMG grading: PS3,PM2,PP5; Liu et al. 1997. Nat Genet 16: 328; Miller et al. 2007. Genet Med 9: 23; Attanasio et al. 2008. Clin Genet 74: 39" "Germline" "" "rs112989722" "0" "" "" "g.48437347G>A" "" "likely pathogenic" "ACMG" "0000667875" "0" "70" "15" "48799062" "48937985" "del" "0" "02958" "FBN1_001047" "g.(48797345_48800778)_(48937985_?)del" "" "" "" "(?_1317)_(1837+1_1838-1)del" "" "Germline" "yes" "" "0" "" "" "g.(48505148_48508581)_(48645788_?)del" "" "likely pathogenic (dominant)" "" "0000667876" "0" "70" "15" "48812873" "48812873" "subst" "0" "02958" "FBN1_001032" "g.48812873C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.48520676C>T" "" "likely pathogenic (dominant)" "" "0000667877" "11" "70" "15" "48807589" "48807589" "subst" "0" "02958" "FBN1_001048" "g.48807589C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.48515392C>T" "" "likely pathogenic (dominant)" "" "0000667878" "11" "70" "15" "48799062" "48806725" "del" "0" "02958" "FBN1_001046" "g.(48797345_48800778)_(48805866_48807583)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.(48505148_48508581)_(48513669_48515386)del" "" "pathogenic (dominant)" "" "0000667879" "11" "70" "15" "48799062" "48806725" "del" "0" "02958" "FBN1_001046" "g.(48797345_48800778)_(48805866_48807583)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.(48505148_48508581)_(48513669_48515386)del" "" "pathogenic (dominant)" "" "0000667880" "11" "70" "15" "48797315" "48797315" "subst" "0" "02958" "FBN1_001045" "g.48797315A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.48505118A>T" "" "likely pathogenic (dominant)" "" "0000667881" "11" "70" "15" "48788294" "48788294" "delins" "0" "02958" "FBN1_001044" "g.48788294delinsCTAAAATATGGATCTAAAA" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.48496097delinsCTAAAATATGGATCTAAAA" "" "VUS" "" "0000667882" "0" "70" "15" "48779271" "48779271" "subst" "0" "02958" "FBN1_000050" "g.48779271C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.48487074C>T" "" "pathogenic (dominant)" "" "0000667883" "11" "70" "15" "48760700" "48760700" "subst" "0" "02958" "FBN1_001043" "g.48760700G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.48468503G>C" "" "likely pathogenic (dominant)" "" "0000667884" "0" "70" "15" "48758023" "48758023" "del" "0" "02958" "FBN1_001042" "g.48758023del" "" "" "" "4781delG" "" "De novo" "yes" "" "0" "" "" "g.48465826del" "" "pathogenic (dominant)" "" "0000667885" "11" "70" "15" "48757892" "48757895" "del" "0" "02958" "FBN1_001041" "g.48757892_48757895del" "" "" "" "4817-1_4819delGATA" "" "Germline" "yes" "" "0" "" "" "g.48465695_48465698del" "" "pathogenic (dominant)" "" "0000667886" "0" "70" "15" "48744830" "48744837" "dup" "0" "02958" "FBN1_001040" "g.48744830_48744837dup" "" "" "" "5467_5474dupGAATGCAT" "" "De novo" "yes" "" "0" "" "" "g.48452633_48452640dup" "" "pathogenic (dominant)" "" "0000667887" "11" "70" "15" "48741015" "48741015" "subst" "0" "02958" "FBN1_001039" "g.48741015C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.48448818C>A" "" "likely pathogenic (dominant)" "" "0000667888" "11" "70" "15" "48740965" "48740965" "subst" "0" "02958" "FBN1_001038" "g.48740965C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.48448768C>T" "" "likely pathogenic (dominant)" "" "0000667889" "0" "70" "15" "48737572" "48737572" "subst" "0" "02958" "FBN1_001037" "g.48737572C>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.48445375C>A" "" "pathogenic (dominant)" "" "0000667890" "0" "70" "15" "48736809" "48736809" "subst" "0" "02958" "FBN1_001036" "g.48736809C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.48444612C>G" "" "likely pathogenic (dominant)" "" "0000667891" "11" "70" "15" "48736782" "48736782" "subst" "0" "02958" "FBN1_001035" "g.48736782C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.48444585C>A" "" "likely pathogenic (dominant)" "" "0000667892" "21" "70" "15" "48710424" "48718913" "del" "0" "02958" "FBN1_001033" "g.(48707965_48712883)_(48718062_48719763)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.(48415768_48420686)_(48425865_48427566)del" "" "likely pathogenic (dominant)" "" "0000667893" "11" "70" "15" "48712886" "48712886" "subst" "0" "02958" "FBN1_001034" "g.48712886A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.48420689A>T" "" "likely pathogenic (dominant)" "" "0000669285" "3" "70" "15" "48719836" "48719836" "subst" "0" "03575" "FBN1_000327" "g.48719836A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no heterozygous ; {DB:CLININrs794728267}" "Germline" "" "rs794728267" "0" "" "" "g.48427639A>G" "" "likely pathogenic" "" "0000669286" "3" "10" "15" "48779530" "48779530" "subst" "0.0310706" "03575" "FBN1_000043" "g.48779530G>C" "33/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "33 homozygous; {DB:CLININrs140598}" "Germline" "" "rs140598" "0" "" "" "g.48487333G>C" "" "benign" "" "0000669287" "3" "50" "15" "48788413" "48788413" "subst" "0" "03575" "FBN1_000714" "g.48788413T>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no heterozygous ; {DB:CLININrs794728189}" "Germline" "" "rs794728189" "0" "" "" "g.48496216T>G" "" "VUS" "" "0000673900" "21" "90" "15" "48812908" "48812908" "subst" "0" "03731" "FBN1_001003" "g.48812908G>T" "" "{PMID:Chesneau 2021:33414558}, {DOI:Chesneau 2021:10.1038/s41431-020-00797-3}" "" "" "" "Germline" "yes" "rs397515755" "0" "" "" "g.48520711G>T" "{CV-RCV:000035115.3}" "pathogenic (dominant)" "ACMG" "0000673901" "11" "90" "15" "48780615" "48780615" "subst" "0" "03731" "FBN1_001049" "g.48780615C>T" "" "{PMID:Chesneau 2021:33414558}, {DOI:Chesneau 2021:10.1038/s41431-020-00797-3}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48488418C>T" "" "pathogenic" "ACMG" "0000673902" "21" "90" "15" "48786452" "48786452" "subst" "0" "03731" "FBN1_001050" "g.48786452C>G" "" "{PMID:Chesneau 2021:33414558}, {DOI:Chesneau 2021:10.1038/s41431-020-00797-3}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48494255C>G" "" "pathogenic" "ACMG" "0000680189" "0" "30" "15" "48704773" "48704773" "subst" "0.000024371" "02325" "FBN1_000241" "g.48704773T>C" "" "" "" "FBN1(NM_000138.4):c.8219A>G (p.N2740S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680190" "0" "30" "15" "48720540" "48720540" "subst" "0.00000813385" "02326" "FBN1_001051" "g.48720540C>T" "" "" "" "FBN1(NM_000138.4):c.6997+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680191" "0" "70" "15" "48729206" "48729206" "subst" "0.0000081369" "01943" "FBN1_000393" "g.48729206G>A" "" "" "" "FBN1(NM_000138.4):c.6448C>T (p.R2150C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000680192" "0" "30" "15" "48729237" "48729237" "subst" "0.00000406981" "01943" "FBN1_001052" "g.48729237A>G" "" "" "" "FBN1(NM_000138.4):c.6417T>C (p.H2139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680193" "0" "30" "15" "48730117" "48730117" "subst" "0.0000895109" "01943" "FBN1_001053" "g.48730117G>A" "" "" "" "FBN1(NM_000138.4):c.6164-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680194" "0" "50" "15" "48738959" "48738959" "subst" "0" "01943" "FBN1_001054" "g.48738959G>A" "" "" "" "FBN1(NM_000138.4):c.5732C>T (p.S1911F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680195" "0" "30" "15" "48757832" "48757832" "subst" "0.0000365663" "02329" "FBN1_001055" "g.48757832G>C" "" "" "" "FBN1(NM_000138.4):c.4875C>G (p.T1625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680196" "0" "50" "15" "48762951" "48762951" "subst" "0" "01804" "FBN1_001056" "g.48762951T>C" "" "" "" "FBN1(NM_000138.4):c.4339A>G (p.(Ile1447Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680197" "0" "10" "15" "48763008" "48763008" "dup" "0" "02326" "FBN1_001057" "g.48763008dup" "" "" "" "FBN1(NM_000138.4):c.4337-48dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000680198" "0" "30" "15" "48782196" "48782196" "subst" "0.000308639" "01943" "FBN1_000668" "g.48782196G>C" "" "" "" "FBN1(NM_000138.4):c.2934C>G (p.D978E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680199" "0" "30" "15" "48808496" "48808496" "subst" "0.0000162762" "01943" "FBN1_001058" "g.48808496G>C" "" "" "" "FBN1(NM_000138.4):c.1211C>G (p.P404R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680200" "0" "90" "15" "48888525" "48888525" "subst" "0" "02326" "FBN1_001059" "g.48888525G>A" "" "" "" "FBN1(NM_000138.4):c.493C>T (p.R165*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000680201" "0" "90" "15" "48905206" "48905206" "subst" "0" "02326" "FBN1_001060" "g.48905206C>T" "" "" "" "FBN1(NM_000138.4):c.247+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000680202" "0" "50" "15" "48936834" "48936834" "subst" "0" "02325" "FBN1_001061" "g.48936834T>C" "" "" "" "FBN1(NM_000138.4):c.133A>G (p.R45G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683552" "0" "90" "15" "48787363" "48787371" "del" "0" "00006" "FBN1_001062" "g.48787363_48787371del" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PVS1,PS2" "De novo" "" "" "0" "" "" "g.48495166_48495174del" "" "pathogenic (dominant)" "ACMG" "0000691807" "0" "50" "15" "48729193" "48729193" "subst" "0.00000813623" "01804" "FBN1_001063" "g.48729193G>C" "" "" "" "FBN1(NM_000138.4):c.6461C>G (p.(Pro2154Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691808" "0" "30" "15" "48729976" "48729976" "subst" "0.000211835" "02325" "FBN1_000121" "g.48729976G>A" "" "" "" "FBN1(NM_000138.4):c.6302C>T (p.T2101M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691809" "0" "30" "15" "48781915" "48781915" "subst" "0" "02329" "FBN1_001064" "g.48781915A>T" "" "" "" "FBN1(NM_000138.4):c.3082+133T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691810" "0" "70" "15" "48788327" "48788327" "dup" "0" "01804" "FBN1_001065" "g.48788327dup" "" "" "" "FBN1(NM_000138.4):c.2389dup (p.(Ile797Asnfs*5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000691811" "0" "30" "15" "48795751" "48795751" "subst" "0" "02329" "FBN1_001066" "g.48795751T>C" "" "" "" "FBN1(NM_000138.4):c.2113+233A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691812" "0" "30" "15" "48937427" "48937427" "subst" "0" "02329" "FBN1_001067" "g.48937427G>C" "" "" "" "FBN1(NM_000138.4):c.-181-280C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000701790" "0" "70" "15" "48773914" "48773914" "subst" "0" "00006" "FBN1_001068" "g.48773914C>A" "" "{PMID:Haskell 2017:28611029}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000708485" "0" "70" "15" "48777648" "48777648" "subst" "0" "02958" "FBN1_001070" "g.48777648C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.48485451C>T" "" "likely pathogenic (dominant)" "" "0000708486" "0" "70" "15" "48740964" "48740964" "subst" "0" "02958" "FBN1_001069" "g.48740964C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.48448767C>G" "" "likely pathogenic (dominant)" "" "0000710186" "0" "90" "15" "48826344" "48826345" "ins" "0" "00006" "FBN1_001071" "g.48826344_48826345insATAC" "" "{PMID:Hong 2020:33333793}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.48534147_48534148insATAC" "" "pathogenic (dominant)" "" "0000711131" "0" "70" "15" "48777634" "48777634" "subst" "0" "01807" "FBN1_001072" "g.48777634C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000713952" "1" "90" "15" "48741087" "48741087" "subst" "0.00000407628" "00000" "FBN1_001073" "g.48741087C>T" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.48448890C>T" "" "pathogenic (dominant)" "" "0000725139" "0" "70" "15" "48714179" "48714179" "subst" "0" "02327" "FBN1_000299" "g.48714179C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725140" "0" "50" "15" "48719775" "48719775" "subst" "0" "02325" "FBN1_001074" "g.48719775G>A" "" "" "" "FBN1(NM_000138.4):c.7193C>T (p.T2398I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725141" "0" "30" "15" "48719918" "48719918" "subst" "0.0000244369" "02329" "FBN1_000875" "g.48719918G>A" "" "" "" "FBN1(NM_000138.4):c.7050C>T (p.I2350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725142" "0" "30" "15" "48722884" "48722884" "subst" "0.0295853" "01804" "FBN1_000059" "g.48722884A>G" "" "" "" "FBN1(NM_000138.4):c.6855T>C (p.(=), p.D2285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725143" "0" "30" "15" "48726665" "48726665" "subst" "0" "02329" "FBN1_001076" "g.48726665C>T" "" "" "" "FBN1(NM_000138.4):c.6616+126G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725144" "0" "30" "15" "48726813" "48726813" "subst" "0.003415" "02327" "FBN1_000004" "g.48726813G>A" "" "" "" "FBN1(NM_000138.4):c.6594C>T (p.P2198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725145" "0" "30" "15" "48734051" "48734051" "subst" "0.000653921" "01943" "FBN1_001077" "g.48734051A>T" "" "" "" "FBN1(NM_000138.4):c.6038-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725146" "0" "30" "15" "48748913" "48748913" "subst" "0.0048432" "02327" "FBN1_000018" "g.48748913C>T" "" "" "" "FBN1(NM_000138.4):c.5343G>A (p.V1781=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725147" "0" "30" "15" "48749036" "48749036" "subst" "0" "02329" "FBN1_001078" "g.48749036C>T" "" "" "" "FBN1(NM_000138.4):c.5297-77G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725148" "0" "90" "15" "48752455" "48752455" "subst" "0" "02329" "FBN1_000481" "g.48752455C>T" "" "" "" "FBN1(NM_000138.4):c.5284G>A (p.G1762S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725149" "0" "30" "15" "48755449" "48755449" "subst" "0.0000488289" "02329" "FBN1_001079" "g.48755449G>A" "" "" "" "FBN1(NM_000138.4):c.5066-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725150" "0" "30" "15" "48757802" "48757802" "subst" "0.00341823" "02327" "FBN1_000021" "g.48757802G>C" "" "" "" "FBN1(NM_000138.4):c.4905C>G (p.T1635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725151" "0" "30" "15" "48758304" "48758304" "subst" "0" "02329" "FBN1_001080" "g.48758304C>A" "" "" "" "FBN1(NM_000138.4):c.4748-249G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725152" "0" "30" "15" "48760127" "48760127" "subst" "0.00000406686" "01943" "FBN1_001081" "g.48760127C>T" "" "" "" "FBN1(NM_000138.4):c.4747+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725153" "0" "70" "15" "48760294" "48760294" "subst" "0" "02327" "FBN1_001082" "g.48760294G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725154" "0" "50" "15" "48766469" "48766469" "subst" "0" "01943" "FBN1_001083" "g.48766469T>C" "" "" "" "FBN1(NM_000138.4):c.4193A>G (p.D1398G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725155" "0" "30" "15" "48773880" "48773880" "subst" "0.000195162" "01943" "FBN1_001084" "g.48773880G>A" "" "" "" "FBN1(NM_000138.4):c.3936C>T (p.S1312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725156" "0" "30" "15" "48779550" "48779550" "subst" "0.000889318" "01804" "FBN1_000154" "g.48779550G>A" "" "" "" "FBN1(NM_000138.4):c.3422C>T (p.P1141L, p.(Pro1141Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725157" "0" "50" "15" "48780352" "48780352" "subst" "0.00000812163" "01943" "FBN1_001085" "g.48780352C>T" "" "" "" "FBN1(NM_000138.4):c.3295G>A (p.E1099K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725158" "0" "30" "15" "48780841" "48780841" "subst" "0" "02329" "FBN1_001086" "g.48780841G>A" "" "" "" "FBN1(NM_000138.4):c.3083-151C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725159" "0" "50" "15" "48782151" "48782151" "subst" "0.0000284259" "01943" "FBN1_000923" "g.48782151G>A" "" "" "" "FBN1(NM_000138.4):c.2979C>T (p.C993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725160" "0" "30" "15" "48788743" "48788743" "subst" "0" "02329" "FBN1_001088" "g.48788743T>G" "" "" "" "FBN1(NM_000138.4):c.2294-321A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725161" "0" "30" "15" "48800870" "48800870" "subst" "0.00343081" "02327" "FBN1_000037" "g.48800870G>A" "" "" "" "FBN1(NM_000138.4):c.1746C>T (p.C582=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725162" "0" "30" "15" "48802581" "48802581" "subst" "0" "02329" "FBN1_001090" "g.48802581T>C" "" "" "" "FBN1(NM_000138.4):c.1589-215A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725163" "0" "30" "15" "48892321" "48892321" "subst" "0.000036611" "02326" "FBN1_001091" "g.48892321C>A" "" "" "" "FBN1(NM_000138.4):c.442+15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725164" "0" "30" "15" "48936673" "48936673" "subst" "0" "02329" "FBN1_001092" "g.48936673C>T" "" "" "" "FBN1(NM_000138.4):c.164+130G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729934" "0" "90" "15" "48720669" "48720669" "subst" "0" "00000" "FBN1_001075" "g.48720669C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000138.4:c.6872-1G>A" "" "De novo" "" "" "0" "" "" "g.48428472C>T" "" "likely pathogenic (dominant)" "" "0000729935" "1" "90" "15" "48796046" "48796046" "subst" "0" "00000" "FBN1_001089" "g.48796046C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000138.4:c.2051G>A:p.(Cys684Tyr)" "" "Germline" "" "" "0" "" "" "g.48503849C>T" "" "pathogenic (dominant)" "" "0000729936" "0" "90" "15" "48752455" "48752455" "subst" "0" "00000" "FBN1_000481" "g.48752455C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000138.4:c.5284G>A:p.(Gly1762Ser)" "" "De novo" "" "" "0" "" "" "g.48460258C>T" "" "pathogenic (dominant)" "" "0000729937" "0" "90" "15" "48755407" "48755407" "subst" "0" "00000" "FBN1_000491" "g.48755407T>C" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000138.4:c.5096A>G:p.(Tyr1699Cys)" "" "De novo" "" "" "0" "" "" "g.48463210T>C" "" "pathogenic (dominant)" "" "0000729938" "0" "90" "15" "48787364" "48787372" "del" "0" "00000" "FBN1_001087" "g.48787364_48787372del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000138.4:c.2626_2634del:p.(Cys876_Ser878del)" "" "De novo" "" "" "0" "" "" "g.48495167_48495175del" "" "likely pathogenic (dominant)" "" "0000760808" "0" "70" "15" "48755320" "48755320" "subst" "0" "01396" "FBN1_000484" "g.48755320G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.48463123G>A" "" "pathogenic" "" "0000760928" "0" "50" "15" "48789552" "48789552" "subst" "0" "01741" "FBN1_001093" "g.48789552G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "" "0000765438" "1" "90" "15" "48829821" "48829821" "del" "0" "00000" "FBN1_001096" "g.48829821del" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "723del" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.48537624del" "" "pathogenic" "" "0000765455" "1" "70" "15" "48773967" "48773967" "subst" "0" "00000" "FBN1_001095" "g.48773967C>G" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.48481770C>G" "" "likely pathogenic" "" "0000765477" "1" "70" "15" "48725093" "48725093" "subst" "0.00000813703" "00000" "FBN1_001094" "g.48725093C>T" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.48432896C>T" "" "likely pathogenic" "" "0000783785" "11" "90" "15" "48818382" "48818382" "subst" "0" "04070" "FBN1_001097" "g.48818382G>T" "" "" "" "" "" "Somatic" "no" "" "0" "" "" "" "" "pathogenic" "other" "0000784699" "11" "90" "15" "48739021" "48739021" "del" "0" "04070" "FBN1_001167" "g.48739021del" "" "{PMID:Zhao 2020:32676886}" "" "5672-2delA" "ACMG PVS1, PM2, PP4" "Germline" "" "" "0" "" "" "g.48739021del" "" "likely pathogenic" "ACMG" "0000790081" "10" "90" "15" "48782210" "48782210" "subst" "0" "04101" "FBN1_000673" "g.48782210G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000790083" "0" "90" "15" "48776059" "48776059" "subst" "0" "04101" "FBN1_001100" "g.48776059C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000790293" "0" "90" "15" "48738898" "48738898" "subst" "0" "04101" "FBN1_001101" "g.48738898C>T" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000790294" "0" "90" "15" "48787671" "48787671" "subst" "0" "04101" "FBN1_001102" "g.48787671C>A" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000790295" "0" "90" "15" "48788302" "48788302" "subst" "0" "04101" "FBN1_000932" "g.48788302C>T" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000790296" "0" "90" "15" "48737689" "48737689" "subst" "0" "04101" "FBN1_001103" "g.48737689C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000790297" "0" "90" "15" "48788301" "48788301" "subst" "0" "04101" "FBN1_000046" "g.48788301A>C" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790298" "0" "90" "15" "48802297" "48802297" "subst" "0" "04101" "FBN1_001104" "g.48802297A>C" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000790303" "0" "70" "15" "48784664" "48784664" "subst" "0" "04101" "FBN1_001105" "g.48784664A>G" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000790305" "21" "90" "15" "48744801" "48744801" "subst" "0" "04101" "FBN1_001099" "g.48744801A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790306" "0" "70" "15" "48802246" "48802246" "subst" "0" "04101" "FBN1_001106" "g.48802246C>G" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790307" "21" "70" "15" "48784708" "48784708" "subst" "0" "04101" "FBN1_001098" "g.48784708C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790308" "21" "70" "15" "48888539" "48888539" "subst" "0" "04101" "FBN1_000031" "g.48888539C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790309" "0" "90" "15" "48780625" "48780625" "subst" "0" "04101" "FBN1_001140" "g.48780625T>A" "" "" "" "" "" "Unknown" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790387" "21" "90" "15" "48905270" "48905270" "subst" "0" "04101" "FBN1_000847" "g.48905270G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790664" "21" "70" "15" "48802262" "48802262" "subst" "0" "04101" "FBN1_001158" "g.48802262G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790665" "21" "70" "15" "48764799" "48764799" "subst" "0" "04101" "FBN1_001129" "g.48764799A>G" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790666" "0" "70" "15" "48800889" "48800889" "subst" "0" "04101" "FBN1_001156" "g.48800889C>T" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790667" "0" "70" "15" "48760654" "48760654" "subst" "0" "04101" "FBN1_001126" "g.48760654A>G" "" "" "" "" "" "Germline" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790668" "0" "70" "15" "48802317" "48802317" "subst" "0" "04101" "FBN1_001159" "g.48802317G>C" "" "" "" "" "" "Germline" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790669" "0" "70" "15" "48902933" "48902933" "subst" "0" "04101" "FBN1_000831" "g.48902933G>C" "" "" "" "" "" "Germline" "-" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000790670" "0" "70" "15" "48756179" "48756179" "subst" "0" "04101" "FBN1_001121" "g.48756179C>T" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000790671" "0" "70" "15" "48725105" "48725105" "subst" "0" "04101" "FBN1_001110" "g.48725105G>C" "" "" "" "" "" "Germline" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790672" "0" "70" "15" "48786405" "48786405" "subst" "0" "04101" "FBN1_001145" "g.48786405A>C" "" "" "" "" "" "Germline" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790673" "0" "70" "15" "48802355" "48802355" "subst" "0" "04101" "FBN1_001160" "g.48802355A>G" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790679" "0" "70" "15" "48888569" "48888569" "subst" "0" "04101" "FBN1_001163" "g.48888569C>T" "" "" "" "" "" "Germline" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790692" "0" "70" "15" "48725114" "48725114" "subst" "0" "04101" "FBN1_001111" "g.48725114A>G" "" "" "" "" "" "Unknown" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000790693" "0" "70" "15" "48786407" "48786407" "subst" "0" "04101" "FBN1_000681" "g.48786407A>G" "" "" "" "" "" "Germline" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790706" "0" "70" "15" "48760281" "48760281" "subst" "0" "04101" "FBN1_001124" "g.48760281C>A" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790707" "0" "70" "15" "48760188" "48760188" "subst" "0" "04101" "FBN1_001123" "g.48760188G>A" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790708" "0" "70" "15" "48757777" "48757777" "subst" "0" "04101" "FBN1_000901" "g.48757777G>A" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790709" "0" "70" "15" "48797278" "48797278" "subst" "0" "04101" "FBN1_001152" "g.48797278T>C" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790711" "0" "70" "15" "48905255" "48905255" "subst" "0" "04101" "FBN1_001166" "g.48905255A>G" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000790714" "21" "70" "15" "48779385" "48779385" "subst" "0" "04101" "FBN1_001137" "g.48779385C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790715" "0" "70" "15" "48796043" "48796043" "subst" "0" "04101" "FBN1_001150" "g.48796043C>T" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000790717" "11" "70" "15" "48733923" "48733923" "subst" "0" "04101" "FBN1_001114" "g.48733923C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790747" "0" "70" "15" "48829826" "48829826" "subst" "0" "04101" "FBN1_000074" "g.48829826G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000790748" "0" "70" "15" "48766519" "48766521" "del" "0" "04101" "FBN1_001130" "g.48766519_48766521del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.48474322_48474324del" "" "pathogenic" "ACMG" "0000790750" "11" "70" "15" "48905270" "48905270" "subst" "0" "04101" "FBN1_000847" "g.48905270G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790751" "11" "70" "15" "48729519" "48729519" "subst" "0" "04101" "FBN1_001112" "g.48729519C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACGS" "0000790752" "0" "70" "15" "48782098" "48782098" "subst" "0" "04101" "FBN1_001141" "g.48782098C>T" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790753" "0" "70" "15" "48829904" "48829904" "subst" "0" "04101" "FBN1_000811" "g.48829904C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790754" "0" "90" "15" "48700504" "48937986" "del" "0" "04101" "FBN1_001108" "g.(?_48700504)_(48937986_?)del" "" "" "" "c.1_8616del" "" "De novo" "-" "" "0" "" "" "g.(?_48408307)_(48645789_?)del" "" "pathogenic" "ACMG" "0000790755" "0" "70" "15" "48766542" "48766542" "subst" "0" "04101" "FBN1_001131" "g.48766542A>G" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790756" "20" "70" "15" "48800871" "48800871" "subst" "0" "04101" "FBN1_001155" "g.48800871C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790757" "0" "70" "15" "48788347" "48788347" "subst" "0" "04101" "FBN1_001149" "g.48788347C>T" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790758" "0" "70" "15" "48784771" "48784771" "subst" "0" "04101" "FBN1_001144" "g.48784771C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790759" "0" "70" "15" "48737690" "48737690" "subst" "0" "04101" "FBN1_001117" "g.48737690A>G" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790760" "21" "70" "15" "48757843" "48757843" "subst" "0" "04101" "FBN1_001122" "g.48757843A>G" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790761" "0" "90" "15" "48905270" "48905270" "subst" "0" "04101" "FBN1_000847" "g.48905270G>A" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790762" "0" "70" "15" "48829903" "48829903" "subst" "0" "04101" "FBN1_001162" "g.48829903C>T" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790763" "21" "90" "15" "48802322" "48802322" "subst" "0" "04101" "FBN1_000175" "g.48802322G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790764" "11" "70" "15" "48782270" "48782270" "subst" "0" "04101" "FBN1_000983" "g.48782270G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790765" "0" "70" "15" "48779317" "48779317" "subst" "0" "04101" "FBN1_001136" "g.48779317A>G" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790766" "0" "90" "15" "48738898" "48738898" "subst" "0" "04101" "FBN1_001101" "g.48738898C>T" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790767" "0" "90" "15" "48829904" "48829904" "subst" "0" "04101" "FBN1_000811" "g.48829904C>T" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790768" "11" "90" "15" "48829826" "48829826" "subst" "0" "04101" "FBN1_000074" "g.48829826G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790769" "21" "70" "15" "48734031" "48734031" "subst" "0" "04101" "FBN1_001115" "g.48734031C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790770" "0" "70" "15" "48779316" "48779316" "subst" "0" "04101" "FBN1_001135" "g.48779316C>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790771" "0" "70" "15" "48797314" "48797314" "subst" "0" "04101" "FBN1_001154" "g.48797314C>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000790772" "11" "70" "15" "48782258" "48782258" "subst" "0" "04101" "FBN1_001142" "g.48782258A>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790773" "0" "90" "15" "48905270" "48905270" "subst" "0" "04101" "FBN1_000847" "g.48905270G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790774" "0" "90" "15" "48905270" "48905270" "subst" "0" "04101" "FBN1_000847" "g.48905270G>A" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790775" "0" "70" "15" "48762836" "48762836" "subst" "0" "04101" "FBN1_001127" "g.48762836C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000790776" "21" "70" "15" "48902965" "48902965" "subst" "0" "04101" "FBN1_001165" "g.48902965G>C" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000790777" "0" "70" "15" "48802322" "48802322" "subst" "0" "04101" "FBN1_000175" "g.48802322G>A" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790778" "0" "70" "15" "48766566" "48766566" "subst" "0" "04101" "FBN1_000569" "g.48766566C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790780" "0" "70" "15" "48755430" "48755432" "del" "0" "04101" "FBN1_001120" "g.48755430_48755432del" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.48463233_48463235del" "" "likely pathogenic" "ACMG" "0000790781" "21" "70" "15" "48787338" "48787338" "subst" "0" "04101" "FBN1_001147" "g.48787338A>G" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790782" "0" "70" "15" "48802262" "48802262" "subst" "0" "04101" "FBN1_001158" "g.48802262G>A" "" "" "" "" "" "De novo" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790783" "0" "70" "15" "48766815" "48766815" "subst" "0" "04101" "FBN1_001132" "g.48766815A>G" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790784" "0" "70" "15" "48780418" "48780418" "subst" "0" "04101" "FBN1_001139" "g.48780418A>G" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790785" "0" "70" "15" "48782269" "48782269" "subst" "0" "04101" "FBN1_001143" "g.48782269C>G" "" "" "" "" "" "De novo" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790786" "0" "90" "15" "48780430" "48780430" "subst" "0" "04101" "FBN1_000640" "g.48780430C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790787" "0" "70" "15" "48780403" "48780403" "subst" "0" "04101" "FBN1_001138" "g.48780403C>A" "" "" "" "" "" "De novo" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790788" "0" "70" "15" "48741009" "48741009" "subst" "0" "04101" "FBN1_000459" "g.48741009C>T" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790789" "21" "70" "15" "48797291" "48797291" "subst" "0" "04101" "FBN1_001153" "g.48797291T>G" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790790" "0" "70" "15" "48807672" "48807672" "subst" "0" "04101" "FBN1_001161" "g.48807672A>C" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790791" "0" "70" "15" "48784702" "48784702" "subst" "0" "04101" "FBN1_000677" "g.48784702C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790792" "0" "90" "15" "48738898" "48738898" "subst" "0" "04101" "FBN1_001101" "g.48738898C>T" "" "" "" "" "" "De novo" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790793" "0" "70" "15" "48892371" "48892371" "subst" "0" "04101" "FBN1_001164" "g.48892371C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790794" "0" "70" "15" "48729576" "48729576" "subst" "0" "04101" "FBN1_001113" "g.48729576G>A" "" "" "" "" "" "De novo" "?" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790795" "0" "90" "15" "48703539" "48703539" "del" "0" "04101" "FBN1_001109" "g.48703539delC" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790796" "0" "70" "15" "48787773" "48787773" "subst" "0" "04101" "FBN1_001148" "g.48787773C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790797" "11" "90" "15" "48766566" "48766566" "subst" "0" "04101" "FBN1_000569" "g.48766566C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790798" "0" "70" "15" "48760294" "48760294" "subst" "0" "04101" "FBN1_000025" "g.48760294G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790799" "0" "70" "15" "48773895" "48773895" "subst" "0" "04101" "FBN1_001134" "g.48773895A>C" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000790800" "0" "70" "15" "48766566" "48766566" "subst" "0" "04101" "FBN1_000569" "g.48766566C>T" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790801" "0" "90" "15" "48905270" "48905270" "subst" "0" "04101" "FBN1_000847" "g.48905270G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790802" "0" "70" "15" "48800842" "48800842" "subst" "0" "04101" "FBN1_000758" "g.48800842C>A" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000790803" "0" "90" "15" "48829826" "48829826" "subst" "0" "04101" "FBN1_000074" "g.48829826G>A" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790805" "11" "90" "15" "48802322" "48802322" "subst" "0" "04101" "FBN1_000175" "g.48802322G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790806" "11" "70" "15" "48802285" "48802285" "subst" "0" "04101" "FBN1_000765" "g.48802285C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000790808" "11" "70" "15" "48718026" "48718026" "subst" "0" "04101" "FBN1_000054" "g.48718026G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790810" "0" "70" "15" "48902966" "48902966" "subst" "0" "04101" "FBN1_000832" "g.48902966C>A" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790811" "0" "70" "15" "48786442" "48786442" "subst" "0" "04101" "FBN1_001146" "g.48786442C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790812" "21" "70" "15" "48738950" "48738950" "subst" "0" "04101" "FBN1_001119" "g.48738950C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790813" "0" "70" "15" "48797267" "48797267" "subst" "0" "04101" "FBN1_001151" "g.48797267A>G" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790814" "11" "70" "15" "48802246" "48802246" "subst" "0" "04101" "FBN1_001106" "g.48802246C>G" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790815" "0" "70" "15" "48892414" "48892414" "subst" "0" "04101" "FBN1_000829" "g.48892414G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790816" "0" "70" "15" "48779592" "48779592" "subst" "0" "04101" "FBN1_000629" "g.48779592C>A" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790817" "0" "70" "15" "48729544" "48729544" "subst" "0.00000407541" "04101" "FBN1_001031" "g.48729544G>A" "" "" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000790818" "10" "70" "15" "48807626" "48807626" "subst" "0" "04101" "FBN1_000786" "g.48807626A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000790819" "20" "90" "15" "48780403" "48780403" "subst" "0" "04101" "FBN1_001138" "g.48780403C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790820" "0" "70" "15" "48797234" "48797234" "subst" "0" "04101" "FBN1_000740" "g.48797234G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790821" "21" "70" "15" "48737599" "48737609" "del" "0" "04101" "FBN1_001116" "g.48737599_48737609del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.48445402_48445412del" "" "pathogenic" "ACMG" "0000790822" "0" "70" "15" "48782093" "48782093" "subst" "0" "04101" "FBN1_000077" "g.48782093C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790823" "0" "70" "15" "48787758" "48787758" "subst" "0" "04101" "FBN1_000705" "g.48787758C>G" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790824" "0" "70" "15" "48892344" "48892344" "subst" "0" "04101" "FBN1_000823" "g.48892344C>T" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790825" "0" "70" "15" "48763851" "48765663" "dup" "0" "04101" "FBN1_001128" "g.(48762954_48764747)_(48764874_48766451)dup" "" "" "" "4211_4336dup" "" "De novo" "-" "" "0" "" "" "g.(48470757_48472550)_(48472677_48474254)dup" "" "pathogenic" "ACMG" "0000790826" "0" "70" "15" "48776128" "48776128" "subst" "0" "04101" "FBN1_000595" "g.48776128C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790827" "0" "70" "15" "48807589" "48807589" "subst" "0" "04101" "FBN1_001048" "g.48807589C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790828" "0" "70" "15" "48738909" "48738909" "subst" "0" "04101" "FBN1_001118" "g.48738909A>G" "" "" "" "" "" "De novo" "yes" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000790829" "21" "70" "15" "48784702" "48784702" "subst" "0" "04101" "FBN1_000677" "g.48784702C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000790830" "0" "70" "15" "48892414" "48892414" "subst" "0" "04101" "FBN1_000829" "g.48892414G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790831" "0" "70" "15" "48744800" "48744800" "subst" "0" "04101" "FBN1_000470" "g.48744800C>T" "" "" "" "" "" "De novo" "-" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790832" "11" "70" "15" "48800901" "48800901" "subst" "0" "04101" "FBN1_001157" "g.48800901T>G" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000790833" "21" "70" "15" "48773890" "48773895" "delins" "0" "04101" "FBN1_001133" "g.48773890_48773895delinsCCGGCAAAAAATGAG" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000790834" "0" "70" "15" "48760653" "48760653" "subst" "0" "04101" "FBN1_001125" "g.48760653C>G" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000790835" "11" "70" "15" "48797336" "48797336" "subst" "0" "04101" "FBN1_000753" "g.48797336C>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" ## 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 FBN1 ## Count = 1446 "{{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}}" "0000021425" "00007761" "55" "2761" "0" "2761" "0" "c.2761T>C" "r.(?)" "p.(Cys921Arg)" "24" "0000021426" "00007761" "55" "2849" "0" "2849" "0" "c.2849G>C" "r.(?)" "p.(Cys950Ser)" "24" "0000022842" "00007761" "90" "3143" "0" "3143" "0" "c.3143T>C" "r.(?)" "p.(Ile1048Thr)" "26" "0000062929" "00007761" "10" "6997" "17" "6997" "17" "c.6997+17C>G" "r.(=)" "p.(=)" "" "0000062930" "00007761" "90" "1495" "0" "1495" "0" "c.1495T>C" "r.(?)" "p.(Cys499Arg)" "" "0000062931" "00007761" "10" "4337" "-55" "4337" "-55" "c.4337-55T>A" "r.(=)" "p.(=)" "" "0000062932" "00007761" "50" "6380" "-87" "6380" "-87" "c.6380-87C>G" "r.(=)" "p.(=)" "" "0000062933" "00007761" "50" "5442" "0" "5442" "0" "c.5442C>T" "r.(=)" "p.(=)" "" "0000062934" "00007761" "50" "7205" "-242" "7205" "-242" "c.7205-242T>A" "r.(=)" "p.(=)" "" "0000062935" "00007761" "50" "3524" "0" "3524" "0" "c.3524T>C" "r.(?)" "p.(Ile1175Thr)" "" "0000062936" "00007761" "10" "6037" "54" "6037" "54" "c.6037+54T>A" "r.(=)" "p.(=)" "" "0000062937" "00007761" "90" "3589" "1" "3589" "1" "c.3589+1G>A" "r.spl?" "p.?" "" "0000062938" "00007761" "10" "6314" "-64" "6314" "-64" "c.6314-64A>G" "r.(=)" "p.(=)" "" "0000062939" "00007761" "10" "4211" "-69" "4211" "-69" "c.4211-69T>C" "r.(=)" "p.(=)" "" "0000062940" "00007761" "10" "6617" "-21" "6617" "-21" "c.6617-21A>T" "r.(=)" "p.(=)" "" "0000062941" "00007761" "10" "443" "-35" "443" "-35" "c.443-35A>G" "r.(=)" "p.(=)" "" "0000062942" "00007761" "10" "1147" "28" "1147" "28" "c.1147+28A>G" "r.(=)" "p.(=)" "" "0000062943" "00007761" "10" "4459" "45" "4459" "45" "c.4459+45G>A" "r.(=)" "p.(=)" "" "0000062944" "00007761" "10" "1838" "-80" "1838" "-80" "c.1838-80G>T" "r.(=)" "p.(=)" "" "0000062945" "00007761" "10" "1875" "0" "1875" "0" "c.1875T>C" "r.(=)" "p.(=)" "" "0000062946" "00007761" "90" "479" "0" "479" "0" "c.479G>A" "r.(?)" "p.(Cys160Tyr)" "" "0000062947" "00007761" "90" "2415" "0" "2415" "0" "c.2415T>G" "r.(?)" "p.(Cys805Trp)" "" "0000062948" "00007761" "50" "7488" "0" "7488" "0" "c.7488C>G" "r.(?)" "p.(Cys2496Trp)" "" "0000062949" "00007761" "10" "6497" "-23" "6497" "-23" "c.6497-23G>C" "r.(=)" "p.(=)" "" "0000062950" "00007761" "10" "3589" "36" "3589" "40" "c.3589+36_3589+40del" "r.(=)" "p.(=)" "" "0000062951" "00007761" "10" "3464" "-5" "3464" "-5" "c.3464-5G>A" "r.spl?" "p.?" "" "0000062952" "00007761" "90" "5656" "0" "5656" "0" "c.5656C>T" "r.(?)" "p.(Gln1886*)" "" "0000062953" "00007761" "50" "1588" "21" "1588" "21" "c.1588+21G>A" "r.(=)" "p.(=)" "" "0000062954" "00007761" "10" "6855" "0" "6855" "0" "c.6855T>C" "r.(=)" "p.(=)" "" "0000062955" "00007761" "10" "3442" "0" "3442" "0" "c.3442C>G" "r.(?)" "p.(Pro1148Ala)" "" "0000062956" "00007761" "50" "4905" "0" "4905" "0" "c.4905C>G" "r.(=)" "p.(=)" "" "0000062957" "00007761" "10" "306" "0" "306" "0" "c.306C>T" "r.(=)" "p.(=)" "" "0000062958" "00007761" "50" "9576" "0" "9576" "0" "c.*960del" "r.(=)" "p.(=)" "" "0000062959" "00007761" "50" "4043" "0" "4043" "0" "c.4043G>A" "r.(?)" "p.(Cys1348Tyr)" "" "0000062960" "00007761" "90" "1958" "0" "1959" "0" "c.1958_1959dup" "r.(?)" "p.(Asp654Leufs*65)" "" "0000062961" "00007761" "10" "6888" "0" "6888" "0" "c.6888G>A" "r.(=)" "p.(=)" "" "0000062962" "00007761" "50" "6594" "0" "6594" "0" "c.6594C>T" "r.(=)" "p.(=)" "" "0000062963" "00007761" "50" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Pro392Leu)" "" "0000062964" "00007761" "50" "5671" "28" "5671" "28" "c.5671+28dup" "r.(=)" "p.(=)" "" "0000062965" "00007761" "10" "4582" "64" "4582" "64" "c.4582+64A>G" "r.(=)" "p.(=)" "" "0000062966" "00007761" "50" "4817" "-36" "4817" "-36" "c.4817-36A>G" "r.(=)" "p.(=)" "" "0000062967" "00007761" "90" "4588" "0" "4588" "0" "c.4588C>T" "r.(?)" "p.(Arg1530Cys)" "" "0000062968" "00007761" "50" "4087" "45" "4087" "45" "c.4087+45A>G" "r.(=)" "p.(=)" "" "0000062969" "00007761" "50" "1746" "0" "1746" "0" "c.1746C>T" "r.(=)" "p.(=)" "" "0000062970" "00007761" "90" "3761" "0" "3761" "0" "c.3761G>A" "r.(?)" "p.(Cys1254Tyr)" "" "0000062971" "00007761" "10" "3964" "161" "3964" "161" "c.3964+161G>T" "r.(=)" "p.(=)" "" "0000062972" "00007761" "50" "5788" "37" "5788" "37" "c.5788+37A>G" "r.(=)" "p.(=)" "" "0000062973" "00007761" "10" "3589" "67" "3589" "71" "c.3589+67_3589+71del" "r.(=)" "p.(=)" "" "0000062974" "00007761" "10" "6380" "-85" "6380" "-85" "c.6380-85T>A" "r.(=)" "p.(=)" "" "0000062975" "00007761" "10" "6379" "115" "6379" "115" "c.6379+115C>T" "r.(=)" "p.(=)" "" "0000062976" "00007761" "50" "3964" "205" "3964" "205" "c.3964+205C>T" "r.(=)" "p.(=)" "" "0000062977" "00007761" "90" "4787" "0" "4787" "0" "c.4787G>C" "r.(?)" "p.(Arg1596Pro)" "" "0000062978" "00007761" "90" "6184" "0" "6184" "0" "c.6184dup" "r.(?)" "p.(Tyr2062Leufs*5)" "" "0000062979" "00007761" "10" "1469" "-162" "1469" "-162" "c.1469-162A>G" "r.(=)" "p.(=)" "" "0000062980" "00007761" "10" "7204" "7" "7204" "7" "c.7204+7C>G" "r.(=)" "p.(=)" "" "0000062981" "00007761" "10" "2168" "-46" "2168" "-46" "c.2168-46A>G" "r.(=)" "p.(=)" "" "0000062982" "00007761" "10" "4748" "-77" "4748" "-77" "c.4748-77T>G" "r.(=)" "p.(=)" "" "0000062983" "00007761" "10" "3208" "55" "3208" "60" "c.3208+55_3208+60del" "r.(=)" "p.(=)" "" "0000062984" "00007761" "50" "1421" "0" "1421" "0" "c.1421G>A" "r.(?)" "p.(Cys474Tyr)" "" "0000062985" "00007761" "50" "6700" "0" "6700" "0" "c.6700G>A" "r.(?)" "p.(Val2234Met)" "" "0000062986" "00007761" "10" "3589" "36" "3589" "40" "c.3589+36_3589+40dup" "r.(=)" "p.(=)" "" "0000062987" "00007761" "90" "3208" "1" "3208" "1" "c.3208+1G>A" "r.spl?" "p.?" "" "0000062988" "00007761" "90" "7240" "0" "7240" "0" "c.7240C>T" "r.(?)" "p.(Arg2414*)" "" "0000062989" "00007761" "10" "6497" "-49" "6497" "-49" "c.6497-49G>A" "r.(=)" "p.(=)" "" "0000062990" "00007761" "10" "1415" "0" "1415" "0" "c.1415G>A" "r.(?)" "p.(Cys472Tyr)" "" "0000062991" "00007761" "10" "5343" "0" "5343" "0" "c.5343G>A" "r.(=)" "p.(=)" "" "0000062992" "00007761" "50" "1469" "-95" "1469" "-95" "c.1469-95G>A" "r.(=)" "p.(=)" "" "0000062993" "00007761" "50" "4943" "-69" "4943" "-69" "c.4943-69A>G" "r.(=)" "p.(=)" "" "0000062994" "00007761" "10" "5672" "-63" "5672" "-63" "c.5672-63G>T" "r.(=)" "p.(=)" "" "0000062995" "00007761" "10" "5066" "-35" "5066" "-35" "c.5066-35C>T" "r.(=)" "p.(=)" "" "0000079421" "00007761" "00" "5738" "0" "5738" "0" "c.5738A>G" "r.(?)" "p.(Asn1913Ser)" "" "0000082941" "00007761" "90" "385" "0" "385" "0" "c.385T>G" "r.(?)" "p.(Cys129Gly)" "5" "0000082943" "00007761" "90" "905" "0" "905" "0" "c.905del" "r.(?)" "p.(Gly302Valfs*28)" "9" "0000082944" "00007761" "70" "1634" "0" "1634" "0" "c.1634G>C" "r.(?)" "p.(Arg545Pro)" "14" "0000082945" "00007761" "90" "1924" "0" "1924" "0" "c.1924G>T" "r.(?)" "p.(Gly642*)" "16" "0000082946" "00007761" "90" "3037" "0" "3037" "0" "c.3037G>A" "r.(?)" "p.(Gly1013Arg)" "25" "0000082948" "00007761" "90" "3761" "0" "3761" "0" "c.3761G>A" "r.(?)" "p.(Cys1254Tyr)" "31" "0000130236" "00007761" "70" "8275" "0" "8275" "0" "c.8275G>T" "r.(?)" "p.(Glu2759*)" "" "0000162916" "00007761" "90" "5379" "0" "5379" "0" "c.5379T>A" "r.(?)" "p.(Cys1793*)" "44" "0000225085" "00007761" "90" "5830" "0" "5831" "0" "c.5830_5831dup" "r.(?)" "p.(Asn1944Lysfs*37)" "" "0000248165" "00007761" "50" "2508" "0" "2508" "0" "c.2508T>A" "r.(?)" "p.(Ser836Arg)" "" "0000249910" "00007761" "10" "1875" "0" "1875" "0" "c.1875T>C" "r.(?)" "p.(Asn625=)" "" "0000249954" "00007761" "10" "8502" "0" "8502" "0" "c.8502T>C" "r.(?)" "p.(Thr2834=)" "" "0000249976" "00007761" "30" "4194" "0" "4194" "0" "c.4194T>C" "r.(?)" "p.(Asp1398=)" "" "0000250124" "00007761" "10" "6855" "0" "6855" "0" "c.6855T>C" "r.(?)" "p.(Asp2285=)" "" "0000250474" "00007761" "30" "5225" "-13" "5225" "-13" "c.5225-13T>G" "r.(=)" "p.(=)" "" "0000250494" "00007761" "70" "32" "0" "32" "0" "c.32T>G" "r.(?)" "p.(Leu11Arg)" "" "0000250561" "00007761" "50" "6549" "0" "6549" "0" "c.6549T>A" "r.(?)" "p.(Asn2183Lys)" "" "0000250822" "00007761" "70" "7754" "0" "7754" "0" "c.7754T>C" "r.(?)" "p.(Ile2585Thr)" "" "0000251583" "00007761" "10" "8052" "-23" "8052" "-23" "c.8052-23T>C" "r.(=)" "p.(=)" "" "0000251584" "00007761" "10" "2420" "-8" "2420" "-8" "c.2420-8T>C" "r.(=)" "p.(=)" "" "0000251806" "00007761" "30" "273" "0" "273" "0" "c.273T>C" "r.(?)" "p.(Asp91=)" "" "0000252245" "00007761" "30" "2729" "-3" "2729" "-3" "c.2729-3del" "r.spl?" "p.?" "" "0000252455" "00007761" "70" "4942" "6" "4942" "6" "c.4942+6T>C" "r.(=)" "p.(=)" "" "0000253134" "00007761" "10" "1875" "0" "1875" "0" "c.1875T>C" "r.(?)" "p.(Asn625=)" "" "0000254045" "00007761" "30" "8502" "0" "8502" "0" "c.8502T>C" "r.(?)" "p.(Thr2834=)" "" "0000254067" "00007761" "30" "4194" "0" "4194" "0" "c.4194T>C" "r.(?)" "p.(Asp1398=)" "" "0000255344" "00007761" "70" "7754" "0" "7754" "0" "c.7754T>C" "r.(?)" "p.(Ile2585Thr)" "" "0000255379" "00007761" "70" "4459" "2" "4459" "2" "c.4459+2T>G" "r.spl?" "p.?" "" "0000255803" "00007761" "50" "2508" "0" "2508" "0" "c.2508T>A" "r.(?)" "p.(Ser836Arg)" "" "0000256116" "00007761" "50" "2451" "0" "2451" "0" "c.2451T>G" "r.(?)" "p.(Ile817Met)" "" "0000280730" "00007761" "10" "1415" "0" "1415" "0" "c.1415=" "r.(=)" "p.(Tyr472=)" "" "0000280731" "00007761" "10" "3294" "0" "3294" "0" "c.3294C>T" "r.(?)" "p.(Asp1098=)" "" "0000280732" "00007761" "70" "4468" "0" "4468" "0" "c.4468G>A" "r.(?)" "p.(Glu1490Lys)" "" "0000280733" "00007761" "50" "59" "0" "59" "0" "c.59A>G" "r.(?)" "p.(Tyr20Cys)" "" "0000280734" "00007761" "10" "6073" "0" "6073" "0" "c.6073G>T" "r.(?)" "p.(Ala2025Ser)" "" "0000280735" "00007761" "10" "6997" "17" "6997" "17" "c.6997+17C>G" "r.(=)" "p.(=)" "" "0000283013" "00007761" "30" "1026" "0" "1026" "0" "c.1026C>T" "r.(?)" "p.(Asn342=)" "" "0000283014" "00007761" "90" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Glu383Lys)" "" "0000283015" "00007761" "30" "1327" "7" "1327" "7" "c.1327+7A>G" "r.(=)" "p.(=)" "" "0000283016" "00007761" "10" "1415" "0" "1415" "0" "c.1415=" "r.(=)" "p.(Tyr472=)" "" "0000283017" "00007761" "70" "1453" "0" "1453" "0" "c.1453C>T" "r.(?)" "p.(Arg485Cys)" "" "0000283018" "00007761" "30" "150" "0" "150" "0" "c.150C>T" "r.(?)" "p.(His50=)" "" "0000283019" "00007761" "10" "156" "0" "156" "0" "c.156G>T" "r.(?)" "p.(Ala52=)" "" "0000283020" "00007761" "90" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000283021" "00007761" "90" "1677" "0" "1680" "0" "c.1677_1680del" "r.(?)" "p.(Gly560PhefsTer18)" "" "0000283022" "00007761" "10" "1746" "0" "1746" "0" "c.1746C>T" "r.(?)" "p.(Cys582=)" "" "0000283023" "00007761" "10" "2055" "0" "2055" "0" "c.2055C>T" "r.(?)" "p.(Cys685=)" "" "0000283024" "00007761" "30" "2340" "0" "2340" "0" "c.2340A>G" "r.(?)" "p.(Gln780=)" "" "0000283025" "00007761" "50" "2572" "0" "2572" "0" "c.2572A>G" "r.(?)" "p.(Ile858Val)" "" "0000283026" "00007761" "30" "2637" "0" "2637" "0" "c.2637C>T" "r.(?)" "p.(Leu879=)" "" "0000283027" "00007761" "10" "2678" "-15" "2678" "-15" "c.2678-15C>T" "r.(=)" "p.(=)" "" "0000283028" "00007761" "10" "2855" "-9" "2855" "-9" "c.2855-9C>T" "r.(=)" "p.(=)" "" "0000283029" "00007761" "30" "2895" "0" "2895" "0" "c.2895G>A" "r.(?)" "p.(Glu965=)" "" "0000283030" "00007761" "70" "3037" "0" "3037" "0" "c.3037G>A" "r.(?)" "p.(Gly1013Arg)" "" "0000283031" "00007761" "10" "3069" "0" "3069" "0" "c.3069G>A" "r.(?)" "p.(Lys1023=)" "" "0000283032" "00007761" "10" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Cys102=)" "" "0000283033" "00007761" "10" "3294" "0" "3294" "0" "c.3294C>T" "r.(?)" "p.(Asp1098=)" "" "0000283034" "00007761" "10" "3442" "0" "3442" "0" "c.3442C>G" "r.(?)" "p.(Pro1148Ala)" "" "0000283035" "00007761" "10" "3463" "3" "3463" "3" "c.3463+3A>G" "r.spl?" "p.?" "" "0000283036" "00007761" "10" "3464" "-5" "3464" "-5" "c.3464-5G>A" "r.spl?" "p.?" "" "0000283037" "00007761" "90" "3464" "-6" "3464" "-6" "c.3464-6C>A" "r.(=)" "p.(=)" "" "0000283038" "00007761" "30" "3509" "0" "3509" "0" "c.3509G>A" "r.(?)" "p.(Arg1170His)" "" "0000283039" "00007761" "90" "3928" "0" "3928" "0" "c.3928G>T" "r.(?)" "p.(Gly1310Cys)" "" "0000283040" "00007761" "90" "4088" "-1" "4088" "-1" "c.4088-1G>T" "r.spl?" "p.?" "" "0000283041" "00007761" "30" "443" "-13" "443" "-13" "c.443-13C>T" "r.(=)" "p.(=)" "" "0000283042" "00007761" "10" "4460" "-19" "4460" "-19" "c.4460-19A>G" "r.(=)" "p.(=)" "" "0000283043" "00007761" "10" "4905" "0" "4905" "0" "c.4905C>G" "r.(?)" "p.(Thr1635=)" "" "0000283044" "00007761" "90" "509" "0" "509" "0" "c.509A>G" "r.(?)" "p.(Tyr170Cys)" "" "0000283045" "00007761" "10" "510" "0" "510" "0" "c.510C>T" "r.(?)" "p.(Tyr170=)" "" "0000283046" "00007761" "90" "5244" "0" "5245" "0" "c.5244_5245del" "r.(?)" "p.(Cys1748TrpfsTer18)" "" "0000283047" "00007761" "10" "5343" "0" "5343" "0" "c.5343G>A" "r.(?)" "p.(Val1781=)" "" "0000283048" "00007761" "90" "5699" "0" "5699" "0" "c.5699G>C" "r.(?)" "p.(Cys1900Ser)" "" "0000283049" "00007761" "50" "5776" "0" "5776" "0" "c.5776A>G" "r.(?)" "p.(Asn1926Asp)" "" "0000283051" "00007761" "90" "6412" "0" "6412" "0" "c.6412A>T" "r.(?)" "p.(Lys2138Ter)" "" "0000283052" "00007761" "90" "6453" "0" "6453" "0" "c.6453C>T" "r.(?)" "p.(Cys2151=)" "" "0000283053" "00007761" "90" "6542" "0" "6542" "0" "c.6542G>C" "r.(?)" "p.(Cys2181Ser)" "" "0000283054" "00007761" "10" "6594" "0" "6594" "0" "c.6594C>T" "r.(?)" "p.(Pro2198=)" "" "0000283055" "00007761" "10" "6616" "17" "6616" "17" "c.6616+17G>A" "r.(=)" "p.(=)" "" "0000283056" "00007761" "10" "6681" "0" "6681" "0" "c.6681A>C" "r.(?)" "p.(Ser2227=)" "" "0000283057" "00007761" "10" "6700" "0" "6700" "0" "c.6700G>A" "r.(?)" "p.(Val2234Met)" "" "0000283058" "00007761" "10" "6705" "0" "6705" "0" "c.6705A>C" "r.(?)" "p.(Gly2235=)" "" "0000283059" "00007761" "90" "6740" "-1" "6740" "-1" "c.6740-1G>A" "r.spl?" "p.?" "" "0000283060" "00007761" "10" "6888" "0" "6888" "0" "c.6888G>A" "r.(?)" "p.(Gln2296=)" "" "0000283061" "00007761" "10" "6997" "17" "6997" "17" "c.6997+17C>G" "r.(=)" "p.(=)" "" "0000283062" "00007761" "30" "6997" "19" "6997" "19" "c.6997+19G>T" "r.(=)" "p.(=)" "" "0000283063" "00007761" "50" "7295" "0" "7295" "0" "c.7295G>T" "r.(?)" "p.(Gly2432Val)" "" "0000283064" "00007761" "90" "7323" "0" "7323" "0" "c.7323del" "r.(?)" "p.(Cys2442ValfsTer2)" "" "0000283065" "00007761" "50" "7346" "0" "7346" "0" "c.7346A>G" "r.(?)" "p.(Asn2449Ser)" "" "0000283066" "00007761" "10" "737" "-21" "737" "-20" "c.737-21_737-20del" "r.(=)" "p.(=)" "" "0000283067" "00007761" "50" "7379" "0" "7379" "0" "c.7379A>G" "r.(?)" "p.(Lys2460Arg)" "" "0000283068" "00007761" "30" "7454" "-13" "7454" "-13" "c.7454-13C>T" "r.(=)" "p.(=)" "" "0000283069" "00007761" "90" "7527" "0" "7527" "0" "c.7527C>A" "r.(?)" "p.(Cys2509Ter)" "" "0000283070" "00007761" "30" "7530" "0" "7530" "0" "c.7530A>G" "r.(?)" "p.(Lys2510=)" "" "0000283071" "00007761" "30" "7560" "0" "7560" "0" "c.7560G>A" "r.(?)" "p.(Thr2520=)" "" "0000283072" "00007761" "30" "762" "0" "762" "0" "c.762C>T" "r.(?)" "p.(Pro254=)" "" "0000283073" "00007761" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Gln258Ter)" "" "0000283074" "00007761" "10" "7819" "8" "7819" "8" "c.7819+8A>C" "r.(=)" "p.(=)" "" "0000283075" "00007761" "30" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Ala27Thr)" "" "0000283076" "00007761" "50" "8155" "0" "8155" "0" "c.8155A>G" "r.(?)" "p.(Lys2719Glu)" "" "0000283077" "00007761" "70" "8188" "0" "8188" "0" "c.8188C>T" "r.(?)" "p.(Arg2730Trp)" "" "0000283078" "00007761" "30" "8218" "0" "8218" "0" "c.8218A>G" "r.(?)" "p.(Asn2740Asp)" "" "0000283079" "00007761" "30" "8232" "0" "8232" "0" "c.8232G>A" "r.(?)" "p.(Gln2744=)" "" "0000283080" "00007761" "10" "8283" "0" "8283" "0" "c.8283A>T" "r.(?)" "p.(Thr2761=)" "" "0000283082" "00007761" "50" "899" "0" "899" "0" "c.899A>G" "r.(?)" "p.(Glu300Gly)" "" "0000283855" "00007761" "70" "2645" "0" "2645" "0" "c.2645C>T" "r.(?)" "p.(Ala882Val)" "" "0000283856" "00007761" "30" "2855" "-9" "2855" "-9" "c.2855-9C>T" "r.(=)" "p.(=)" "" "0000283857" "00007761" "30" "3294" "0" "3294" "0" "c.3294C>T" "r.(?)" "p.(Asp1098=)" "" "0000283858" "00007761" "30" "3509" "0" "3509" "0" "c.3509G>A" "r.(?)" "p.(Arg1170His)" "" "0000283859" "00007761" "10" "5296" "14" "5296" "14" "c.5296+14G>A" "r.(=)" "p.(=)" "" "0000283860" "00007761" "30" "5296" "8" "5296" "8" "c.5296+8A>T" "r.(=)" "p.(=)" "" "0000283861" "00007761" "10" "5343" "0" "5343" "0" "c.5343G>A" "r.(?)" "p.(Val1781=)" "" "0000283862" "00007761" "10" "5789" "-93" "5789" "-93" "c.5789-93G>A" "r.(=)" "p.(=)" "" "0000283863" "00007761" "50" "6659" "0" "6659" "0" "c.6659G>A" "r.(?)" "p.(Arg2220Gln)" "" "0000283864" "00007761" "30" "6705" "0" "6705" "0" "c.6705A>C" "r.(?)" "p.(Gly2235=)" "" "0000283865" "00007761" "30" "6832" "0" "6832" "0" "c.6832C>T" "r.(?)" "p.(Pro2278Ser)" "" "0000283866" "00007761" "70" "6916" "0" "6916" "0" "c.6916C>T" "r.(?)" "p.(Arg2306Cys)" "" "0000283867" "00007761" "90" "7499" "0" "7499" "0" "c.7499G>A" "r.(?)" "p.(Cys2500Tyr)" "" "0000283868" "00007761" "30" "7530" "0" "7530" "0" "c.7530A>G" "r.(?)" "p.(Lys2510=)" "" "0000283869" "00007761" "10" "7819" "8" "7819" "8" "c.7819+8A>C" "r.(=)" "p.(=)" "" "0000283870" "00007761" "30" "8232" "0" "8232" "0" "c.8232G>A" "r.(?)" "p.(Gln2744=)" "" "0000283871" "00007761" "30" "8232" "0" "8232" "0" "c.8232G>C" "r.(?)" "p.(Gln2744His)" "" "0000287206" "00007761" "30" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Val370Ile)" "" "0000287207" "00007761" "30" "1200" "0" "1200" "0" "c.1200A>G" "r.(?)" "p.(Glu400=)" "" "0000287208" "00007761" "50" "1289" "0" "1289" "0" "c.1289C>T" "r.(?)" "p.(Pro430Leu)" "" "0000287209" "00007761" "50" "1370" "0" "1370" "0" "c.1370G>A" "r.(?)" "p.(Arg457His)" "" "0000287211" "00007761" "30" "1530" "0" "1530" "0" "c.1530G>A" "r.(?)" "p.(Ser510=)" "" "0000287212" "00007761" "30" "1746" "0" "1746" "0" "c.1746C>T" "r.(?)" "p.(Cys582=)" "" "0000287213" "00007761" "30" "1837" "4" "1837" "4" "c.1837+4C>T" "r.spl?" "p.?" "" "0000287214" "00007761" "30" "1845" "0" "1845" "0" "c.1845C>T" "r.(?)" "p.(Asn615=)" "" "0000287215" "00007761" "10" "1960" "30" "1960" "30" "c.1960+30G>A" "r.(=)" "p.(=)" "" "0000287216" "00007761" "50" "2434" "0" "2434" "0" "c.2434G>A" "r.(?)" "p.(Glu812Lys)" "" "0000287217" "00007761" "30" "248" "-17" "248" "-17" "c.248-17C>G" "r.(=)" "p.(=)" "" "0000287218" "00007761" "30" "2637" "0" "2637" "0" "c.2637C>T" "r.(?)" "p.(Leu879=)" "" "0000287219" "00007761" "30" "2711" "0" "2711" "0" "c.2711A>G" "r.(?)" "p.(Lys904Arg)" "" "0000287220" "00007761" "30" "2895" "0" "2895" "0" "c.2895G>A" "r.(?)" "p.(Glu965=)" "" "0000287221" "00007761" "30" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Cys102=)" "" "0000287222" "00007761" "50" "3145" "0" "3145" "0" "c.3145G>A" "r.(?)" "p.(Gly1049Ser)" "" "0000287223" "00007761" "30" "3382" "0" "3382" "0" "c.3382G>A" "r.(?)" "p.(Val1128Ile)" "" "0000287224" "00007761" "50" "3422" "0" "3422" "0" "c.3422C>T" "r.(?)" "p.(Pro1141Leu)" "" "0000287225" "00007761" "30" "3453" "0" "3453" "0" "c.3453C>T" "r.(?)" "p.(Ser1151=)" "" "0000287226" "00007761" "50" "3455" "0" "3455" "0" "c.3455C>T" "r.(?)" "p.(Ala1152Val)" "" "0000287227" "00007761" "50" "3458" "0" "3458" "0" "c.3458G>T" "r.(?)" "p.(Cys1153Phe)" "" "0000287228" "00007761" "10" "3464" "-5" "3464" "-5" "c.3464-5G>A" "r.spl?" "p.?" "" "0000287229" "00007761" "30" "3503" "0" "3503" "0" "c.3503A>G" "r.(?)" "p.(Asn1168Ser)" "" "0000287230" "00007761" "30" "3509" "0" "3509" "0" "c.3509G>A" "r.(?)" "p.(Arg1170His)" "" "0000287231" "00007761" "50" "4306" "0" "4306" "0" "c.4306G>A" "r.(?)" "p.(Val1436Met)" "" "0000287232" "00007761" "50" "4441" "0" "4441" "0" "c.4441A>G" "r.(?)" "p.(Ser1481Gly)" "" "0000287233" "00007761" "50" "4511" "0" "4511" "0" "c.4511A>G" "r.(?)" "p.(Asn1504Ser)" "" "0000287234" "00007761" "50" "4568" "0" "4568" "0" "c.4568G>A" "r.(?)" "p.(Arg1523Gln)" "" "0000287235" "00007761" "90" "4817" "-1" "4817" "-1" "c.4817-1G>A" "r.spl?" "p.?" "" "0000287236" "00007761" "30" "4905" "0" "4905" "0" "c.4905C>G" "r.(?)" "p.(Thr1635=)" "" "0000287237" "00007761" "30" "510" "0" "510" "0" "c.510C>T" "r.(?)" "p.(Tyr170=)" "" "0000287238" "00007761" "90" "5244" "0" "5245" "0" "c.5244_5245del" "r.(?)" "p.(Cys1748TrpfsTer18)" "" "0000287239" "00007761" "30" "5340" "0" "5340" "0" "c.5340A>C" "r.(?)" "p.(Gly1780=)" "" "0000287240" "00007761" "10" "5343" "0" "5343" "0" "c.5343G>A" "r.(?)" "p.(Val1781=)" "" "0000287241" "00007761" "30" "5805" "0" "5805" "0" "c.5805A>C" "r.(?)" "p.(Ala1935=)" "" "0000287242" "00007761" "50" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Gly197Glu)" "" "0000287243" "00007761" "50" "59" "0" "59" "0" "c.59A>G" "r.(?)" "p.(Tyr20Cys)" "" "0000287244" "00007761" "50" "6055" "0" "6055" "0" "c.6055G>A" "r.(?)" "p.(Glu2019Lys)" "" "0000287245" "00007761" "50" "6289" "0" "6289" "0" "c.6289G>A" "r.(?)" "p.(Glu2097Lys)" "" "0000287246" "00007761" "50" "6302" "0" "6302" "0" "c.6302C>T" "r.(?)" "p.(Thr2101Met)" "" "0000287247" "00007761" "10" "6393" "0" "6393" "0" "c.6393C>T" "r.(?)" "p.(Cys2131=)" "" "0000287248" "00007761" "70" "6454" "0" "6454" "0" "c.6454G>A" "r.(?)" "p.(Glu2152Lys)" "" "0000287249" "00007761" "30" "6594" "0" "6594" "0" "c.6594C>T" "r.(?)" "p.(Pro2198=)" "" "0000287250" "00007761" "30" "6681" "0" "6681" "0" "c.6681A>C" "r.(?)" "p.(Ser2227=)" "" "0000287251" "00007761" "30" "6700" "0" "6700" "0" "c.6700G>A" "r.(?)" "p.(Val2234Met)" "" "0000287252" "00007761" "30" "6705" "0" "6705" "0" "c.6705A>C" "r.(?)" "p.(Gly2235=)" "" "0000287253" "00007761" "50" "6724" "0" "6724" "0" "c.6724C>T" "r.(?)" "p.(Arg2242Cys)" "" "0000287254" "00007761" "30" "6987" "0" "6987" "0" "c.6987C>G" "r.(?)" "p.(Asp2329Glu)" "" "0000287255" "00007761" "10" "6997" "17" "6997" "17" "c.6997+17C>G" "r.(=)" "p.(=)" "" "0000287256" "00007761" "90" "6998" "-1" "6998" "-1" "c.6998-1G>C" "r.spl?" "p.?" "" "0000287257" "00007761" "30" "7204" "7" "7204" "7" "c.7204+7C>G" "r.(=)" "p.(=)" "" "0000287258" "00007761" "50" "7379" "0" "7379" "0" "c.7379A>G" "r.(?)" "p.(Lys2460Arg)" "" "0000287259" "00007761" "50" "7412" "0" "7412" "0" "c.7412C>G" "r.(?)" "p.(Pro2471Arg)" "" "0000287260" "00007761" "30" "7560" "0" "7560" "0" "c.7560G>A" "r.(?)" "p.(Thr2520=)" "" "0000287261" "00007761" "30" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Ala27Thr)" "" "0000287262" "00007761" "30" "8232" "0" "8232" "0" "c.8232G>A" "r.(?)" "p.(Gln2744=)" "" "0000287263" "00007761" "30" "8283" "0" "8283" "0" "c.8283A>T" "r.(?)" "p.(Thr2761=)" "" "0000287264" "00007761" "30" "8308" "0" "8308" "0" "c.8308C>A" "r.(?)" "p.(His2770Asn)" "" "0000324087" "00007761" "50" "7684" "0" "7684" "0" "c.7684G>A" "r.(?)" "p.(Gly2562Ser)" "" "0000324088" "00007761" "50" "3503" "0" "3503" "0" "c.3503A>G" "r.(?)" "p.(Asn1168Ser)" "" "0000324089" "00007761" "50" "986" "0" "986" "0" "c.986T>C" "r.(?)" "p.(Ile329Thr)" "" "0000324090" "00007761" "50" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Gly171Arg)" "" "0000324091" "00007761" "50" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Ser95Leu)" "" "0000341545" "00007761" "50" "2029" "0" "2029" "0" "c.2029G>A" "r.(?)" "p.(Ala677Thr)" "" "0000345835" "00007761" "70" "6007" "0" "6007" "0" "c.6007G>A" "r.(?)" "p.(Gly2003Arg)" "" "0000346011" "00007761" "50" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.(Gly343Arg)" "" "0000346836" "00007761" "50" "3020" "0" "3020" "0" "c.3020T>G" "r.(?)" "p.(Leu1007Arg)" "" "0000349221" "00007761" "50" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Ser95Leu)" "" "0000350399" "00007761" "50" "6514" "0" "6514" "0" "c.6514G>A" "r.(?)" "p.(Val2172Ile)" "" "0000351239" "00007761" "90" "4943" "-2" "4943" "-2" "c.4943-2A>G" "r.spl?" "p.?" "" "0000351240" "00007761" "50" "4235" "0" "4235" "0" "c.4235T>A" "r.(?)" "p.(Leu1412Gln)" "" "0000351494" "00007761" "90" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364*)" "" "0000351713" "00007761" "90" "8509" "0" "8515" "0" "c.8509_8515del" "r.(?)" "p.(Tyr2837Argfs*7)" "" "0000369285" "00007761" "30" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Pro392Leu)" "11" "0000369297" "00007761" "30" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Pro392Leu)" "11" "0000405589" "00007761" "90" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "7" "0000405592" "00007761" "90" "3748" "0" "3748" "0" "c.3748G>T" "r.(?)" "p.(Asp1250Tyr)" "31" "0000406046" "00007761" "90" "5905" "0" "5905" "0" "c.5905del" "r.(?)" "p.(Arg1969Glyfs*11)" "" "0000438993" "00007761" "70" "2293" "0" "2293" "0" "c.2293G>T" "r.(?)" "p.(Asp765Tyr)" "" "0000439091" "00007761" "90" "8051" "1" "8051" "1" "c.8051+1G>A" "r.(?)" "p.?" "" "0000459067" "00007761" "50" "50" "0" "50" "0" "c.50T>C" "r.(?)" "p.Leu17Ser" "" "0000459080" "00007761" "50" "50" "0" "50" "0" "c.50T>C" "r.(?)" "p.Leu17Ser" "2" "0000459081" "00007761" "50" "56" "0" "56" "0" "c.56C>T" "r.(?)" "p.Ser19Phe" "2" "0000459082" "00007761" "50" "59" "0" "59" "0" "c.59A>G" "r.(?)" "p.Tyr20Cys" "2" "0000459083" "00007761" "30" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.Ala27Thr" "2" "0000459084" "00007761" "50" "83" "0" "83" "0" "c.83A>G" "r.(?)" "p.Asn28Ser" "2" "0000459085" "00007761" "30" "124" "0" "124" "0" "c.124G>C" "r.(?)" "p.Ala42Pro" "2" "0000459086" "00007761" "50" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.Gly46Asp" "2" "0000459087" "00007761" "50" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.Gly47Ser" "2" "0000459088" "00007761" "50" "149" "0" "149" "0" "c.149A>T" "r.(?)" "p.His50Leu" "2" "0000459089" "00007761" "50" "153" "0" "153" "0" "c.153C>A" "r.(?)" "p.Asp51Glu" "2" "0000459090" "00007761" "70" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.Arg62Cys" "3" "0000459091" "00007761" "30" "185" "0" "185" "0" "c.185G>A" "r.(?)" "p.Arg62His" "3" "0000459092" "00007761" "70" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.Tyr63Cys" "3" "0000459093" "00007761" "70" "202" "0" "202" "0" "c.202T>A" "r.(?)" "p.Cys68Ser" "3" "0000459094" "00007761" "70" "212" "0" "212" "0" "c.212G>C" "r.(?)" "p.Trp71Ser" "3" "0000459095" "00007761" "50" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.Pro75Ser" "3" "0000459096" "00007761" "30" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.Gly77Arg" "3" "0000459097" "00007761" "70" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.Cys80Tyr" "3" "0000459098" "00007761" "50" "260" "0" "260" "0" "c.260A>G" "r.(?)" "p.His87Arg" "4" "0000459099" "00007761" "70" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.Cys89Tyr" "4" "0000459100" "00007761" "70" "266" "0" "266" "0" "c.266G>C" "r.(?)" "p.Cys89Ser" "4" "0000459101" "00007761" "70" "281" "0" "281" "0" "c.281G>T" "r.(?)" "p.Cys94Phe" "4" "0000459102" "00007761" "50" "287" "0" "287" "0" "c.287G>C" "r.(?)" "p.Arg96Thr" "4" "0000459103" "00007761" "70" "299" "0" "299" "0" "c.299G>A" "r.(?)" "p.Cys100Tyr" "4" "0000459104" "00007761" "70" "299" "0" "299" "0" "c.299G>T" "r.(?)" "p.Cys100Phe" "4" "0000459105" "00007761" "70" "305" "0" "305" "0" "c.305G>T" "r.(?)" "p.Cys102Phe" "4" "0000459106" "00007761" "70" "338" "0" "338" "0" "c.338C>G" "r.(?)" "p.Ser113Cys" "4" "0000459107" "00007761" "50" "353" "0" "353" "0" "c.353A>G" "r.(?)" "p.His118Arg" "5" "0000459108" "00007761" "90" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.Arg122Cys" "5" "0000459109" "00007761" "90" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.Cys123Tyr" "5" "0000459110" "00007761" "30" "370" "0" "370" "0" "c.370A>G" "r.(?)" "p.Met124Val" "5" "0000459111" "00007761" "50" "379" "0" "379" "0" "c.379G>C" "r.(?)" "p.Gly127Arg" "5" "0000459112" "00007761" "70" "385" "0" "385" "0" "c.385T>G" "r.(?)" "p.Cys129Gly" "5" "0000459113" "00007761" "50" "412" "0" "412" "0" "c.412A>C" "r.(?)" "p.Lys138Gln" "5" "0000459114" "00007761" "50" "415" "0" "415" "0" "c.415G>C" "r.(?)" "p.Gly139Arg" "5" "0000459115" "00007761" "70" "434" "0" "434" "0" "c.434G>A" "r.(?)" "p.Cys145Tyr" "5" "0000459116" "00007761" "70" "454" "0" "454" "0" "c.454A>T" "r.(?)" "p.Ser152Cys" "6" "0000459117" "00007761" "70" "461" "0" "461" "0" "c.461G>C" "r.(?)" "p.Cys154Ser" "6" "0000459118" "00007761" "50" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.Asn156Asp" "6" "0000459119" "00007761" "70" "478" "0" "478" "0" "c.478T>C" "r.(?)" "p.Cys160Arg" "6" "0000459120" "00007761" "50" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.Ala162Thr" "6" "0000459121" "00007761" "50" "494" "0" "494" "0" "c.494G>C" "r.(?)" "p.Arg165Pro" "6" "0000459122" "00007761" "70" "497" "0" "497" "0" "c.497G>C" "r.(?)" "p.Cys166Ser" "6" "0000459123" "00007761" "70" "529" "0" "529" "0" "c.529T>C" "r.(?)" "p.Cys177Arg" "6" "0000459124" "00007761" "50" "556" "0" "556" "0" "c.556T>C" "r.(?)" "p.Cys186Arg" "7" "0000459125" "00007761" "50" "589" "0" "589" "0" "c.589G>C" "r.(?)" "p.Gly197Arg" "7" "0000459126" "00007761" "50" "629" "0" "629" "0" "c.629G>A" "r.(?)" "p.Cys210Tyr" "7" "0000459127" "00007761" "70" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.Gly214Ser" "7" "0000459128" "00007761" "70" "649" "0" "649" "0" "c.649T>G" "r.(?)" "p.Trp217Gly" "7" "0000459129" "00007761" "50" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.Arg233Cys" "7" "0000459130" "00007761" "90" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.Arg240Cys" "7" "0000459131" "00007761" "50" "722" "0" "722" "0" "c.722C>T" "r.(?)" "p.Thr241Met" "7" "0000459132" "00007761" "50" "787" "0" "787" "0" "c.787A>G" "r.(?)" "p.Ile263Val" "8" "0000459133" "00007761" "70" "811" "0" "811" "0" "c.811T>G" "r.(?)" "p.Cys271Gly" "8" "0000459134" "00007761" "50" "814" "0" "814" "0" "c.814A>C" "r.(?)" "p.Lys272Gln" "8" "0000459135" "00007761" "50" "821" "0" "821" "0" "c.821C>A" "r.(?)" "p.Pro274His" "8" "0000459136" "00007761" "50" "843" "0" "843" "0" "c.843A>C" "r.(?)" "p.Glu281Asp" "8" "0000459137" "00007761" "30" "885" "0" "885" "0" "c.885T>G" "r.(?)" "p.Ile295Met" "9" "0000459138" "00007761" "30" "902" "0" "902" "0" "c.902G>T" "r.(?)" "p.Gly301Val" "9" "0000459139" "00007761" "50" "980" "0" "980" "0" "c.980G>C" "r.(?)" "p.Arg327Thr" "9" "0000459140" "00007761" "10" "986" "0" "986" "0" "c.986T>C" "r.(?)" "p.Ile329Thr" "9" "0000459141" "00007761" "50" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.Gly343Arg" "10" "0000459142" "00007761" "50" "1036" "0" "1036" "0" "c.1036T>C" "r.(?)" "p.Ser346Pro" "10" "0000459143" "00007761" "50" "1091" "0" "1091" "0" "c.1091G>C" "r.(?)" "p.Arg364Pro" "10" "0000459144" "00007761" "70" "1129" "0" "1129" "0" "c.1129T>C" "r.(?)" "p.Cys377Arg" "10" "0000459145" "00007761" "50" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.Glu383Lys" "10" "0000459146" "00007761" "30" "1158" "0" "1158" "0" "c.1158C>G" "r.(?)" "p.Asn386Lys" "11" "0000459147" "00007761" "50" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.Pro392Leu" "11" "0000459148" "00007761" "50" "1193" "0" "1193" "0" "c.1193G>A" "r.(?)" "p.Arg398Lys" "11" "0000459149" "00007761" "50" "1195" "0" "1195" "0" "c.1195C>G" "r.(?)" "p.Pro399Ala" "11" "0000459150" "00007761" "50" "1235" "0" "1235" "0" "c.1235T>A" "r.(?)" "p.Val412Asp" "11" "0000459151" "00007761" "30" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.Gly422Glu" "11" "0000459152" "00007761" "50" "1282" "0" "1282" "0" "c.1282C>A" "r.(?)" "p.Pro428Thr" "11" "0000459153" "00007761" "50" "1286" "0" "1286" "0" "c.1286G>A" "r.(?)" "p.Arg429Gln" "11" "0000459154" "00007761" "50" "1289" "0" "1289" "0" "c.1289C>T" "r.(?)" "p.Pro430Leu" "11" "0000459155" "00007761" "30" "1345" "0" "1345" "0" "c.1345G>A" "r.(?)" "p.Val449Ile" "12" "0000459156" "00007761" "50" "1390" "0" "1390" "0" "c.1390C>G" "r.(?)" "p.Arg464Gly" "12" "0000459157" "00007761" "70" "1421" "0" "1421" "0" "c.1421G>A" "r.(?)" "p.Cys474Tyr" "12" "0000459158" "00007761" "70" "1426" "0" "1426" "0" "c.1426T>C" "r.(?)" "p.Cys476Arg" "12" "0000459159" "00007761" "90" "1426" "0" "1426" "0" "c.1426T>G" "r.(?)" "p.Cys476Gly" "12" "0000459160" "00007761" "70" "1453" "0" "1453" "0" "c.1453C>T" "r.(?)" "p.Arg485Cys" "12" "0000459161" "00007761" "50" "1454" "0" "1454" "0" "c.1454G>T" "r.(?)" "p.Arg485Leu" "12" "0000459162" "00007761" "70" "1481" "0" "1481" "0" "c.1481G>A" "r.(?)" "p.Cys494Tyr" "13" "0000459163" "00007761" "70" "1481" "0" "1481" "0" "c.1481G>T" "r.(?)" "p.Cys494Phe" "13" "0000459164" "00007761" "90" "1496" "0" "1496" "0" "c.1496G>A" "r.(?)" "p.Cys499Tyr" "13" "0000459165" "00007761" "50" "1498" "0" "1498" "0" "c.1498G>C" "r.(?)" "p.Ala500Pro" "13" "0000459166" "00007761" "70" "1525" "0" "1525" "0" "c.1525G>T" "r.(?)" "p.Gly509Cys" "13" "0000459167" "00007761" "70" "1532" "0" "1532" "0" "c.1532A>G" "r.(?)" "p.Tyr511Cys" "13" "0000459168" "00007761" "70" "1538" "0" "1538" "0" "c.1538G>T" "r.(?)" "p.Cys513Phe" "13" "0000459169" "00007761" "30" "1547" "0" "1547" "0" "c.1547G>A" "r.(?)" "p.Arg516Gln" "13" "0000459170" "00007761" "50" "1552" "0" "1552" "0" "c.1552G>A" "r.(?)" "p.Gly518Arg" "13" "0000459171" "00007761" "50" "1553" "0" "1553" "0" "c.1553G>T" "r.(?)" "p.Gly518Val" "13" "0000459172" "00007761" "30" "1571" "0" "1571" "0" "c.1571C>T" "r.(?)" "p.Thr524Met" "13" "0000459173" "00007761" "70" "1583" "0" "1583" "0" "c.1583G>A" "r.(?)" "p.Cys528Tyr" "13" "0000459174" "00007761" "70" "1589" "0" "1589" "0" "c.1589A>G" "r.(?)" "p.Asp530Gly" "14" "0000459175" "00007761" "70" "1601" "0" "1601" "0" "c.1601G>A" "r.(?)" "p.Cys534Tyr" "14" "0000459176" "00007761" "50" "1628" "0" "1628" "0" "c.1628A>T" "r.(?)" "p.Asn543Ile" "14" "0000459177" "00007761" "70" "1630" "0" "1630" "0" "c.1630G>A" "r.(?)" "p.Gly544Arg" "14" "0000459178" "00007761" "90" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.Arg545Cys" "14" "0000459179" "00007761" "50" "1634" "0" "1634" "0" "c.1634G>A" "r.(?)" "p.Arg545His" "14" "0000459180" "00007761" "90" "1643" "0" "1643" "0" "c.1643A>T" "r.(?)" "p.Asn548Ile" "14" "0000459181" "00007761" "70" "1664" "0" "1664" "0" "c.1664G>T" "r.(?)" "p.Cys555Phe" "14" "0000459182" "00007761" "70" "1670" "0" "1670" "0" "c.1670G>A" "r.(?)" "p.Cys557Tyr" "14" "0000459183" "00007761" "50" "1676" "0" "1676" "0" "c.1676C>T" "r.(?)" "p.Ala559Val" "14" "0000459184" "00007761" "50" "1678" "0" "1678" "0" "c.1678G>A" "r.(?)" "p.Gly560Ser" "14" "0000459185" "00007761" "50" "1694" "0" "1694" "0" "c.1694G>A" "r.(?)" "p.Arg565Gln" "14" "0000459186" "00007761" "70" "1726" "0" "1726" "0" "c.1726T>G" "r.(?)" "p.Cys576Gly" "15" "0000459187" "00007761" "70" "1753" "0" "1753" "0" "c.1753G>A" "r.(?)" "p.Gly585Arg" "15" "0000459188" "00007761" "50" "1754" "0" "1754" "0" "c.1754G>C" "r.(?)" "p.Gly585Ala" "15" "0000459189" "00007761" "70" "1774" "0" "1774" "0" "c.1774G>T" "r.(?)" "p.Gly592Cys" "15" "0000459190" "00007761" "70" "1786" "0" "1786" "0" "c.1786T>G" "r.(?)" "p.Cys596Gly" "15" "0000459191" "00007761" "70" "1825" "0" "1825" "0" "c.1825C>T" "r.(?)" "p.Arg609Cys" "15" "0000459192" "00007761" "50" "1826" "0" "1826" "0" "c.1826G>A" "r.(?)" "p.Arg609His" "15" "0000459193" "00007761" "50" "1844" "0" "1844" "0" "c.1844A>G" "r.(?)" "p.Asn615Ser" "16" "0000459194" "00007761" "70" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.Glu616Lys" "16" "0000459195" "00007761" "70" "1849" "0" "1849" "0" "c.1849T>G" "r.(?)" "p.Cys617Gly" "16" "0000459196" "00007761" "70" "1876" "0" "1876" "0" "c.1876G>A" "r.(?)" "p.Gly626Arg" "16" "0000459197" "00007761" "90" "1879" "0" "1879" "0" "c.1879C>T" "r.(?)" 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"p.Cys2674Tyr" "64" "0000459717" "00007761" "30" "8027" "0" "8027" "0" "c.8027C>T" "r.(?)" "p.Pro2676Leu" "64" "0000459718" "00007761" "70" "8038" "0" "8038" "0" "c.8038C>T" "r.(?)" "p.Arg2680Cys" "64" "0000459719" "00007761" "30" "8071" "0" "8071" "0" "c.8071G>A" "r.(?)" "p.Gly2691Ser" "65" "0000459720" "00007761" "50" "8080" "0" "8080" "0" "c.8080C>G" "r.(?)" "p.Arg2694Gly" "65" "0000459721" "00007761" "50" "8081" "0" "8081" "0" "c.8081G>A" "r.(?)" "p.Arg2694Gln" "65" "0000459722" "00007761" "50" "8099" "0" "8099" "0" "c.8099C>T" "r.(?)" "p.Pro2700Leu" "65" "0000459723" "00007761" "50" "8108" "0" "8108" "0" "c.8108G>T" "r.(?)" "p.Gly2703Val" "65" "0000459724" "00007761" "30" "8149" "0" "8149" "0" "c.8149G>A" "r.(?)" "p.Glu2717Lys" "65" "0000459725" "00007761" "50" "8170" "0" "8170" "0" "c.8170C>T" "r.(?)" "p.Pro2724Ser" "65" "0000459726" "00007761" "30" "8176" "0" "8176" "0" "c.8176C>T" "r.(?)" "p.Arg2726Trp" "65" "0000459727" "00007761" "30" "8177" "0" "8177" "0" "c.8177G>A" "r.(?)" "p.Arg2726Gln" "65" "0000459728" "00007761" "30" "8185" "0" "8185" "0" "c.8185A>C" "r.(?)" "p.Lys2729Gln" "65" "0000459729" "00007761" "30" "8189" "0" "8189" "0" "c.8189G>A" "r.(?)" "p.Arg2730Gln" "65" "0000459730" "00007761" "50" "8198" "0" "8198" "0" "c.8198C>G" "r.(?)" "p.Thr2733Arg" "65" "0000459731" "00007761" "50" "8218" "0" "8218" "0" "c.8218A>G" "r.(?)" "p.Asn2740Asp" "65" "0000459732" "00007761" "50" "8219" "0" "8219" "0" "c.8219A>G" "r.(?)" "p.Asn2740Ser" "65" "0000459733" "00007761" "50" "8226" "0" "8226" "0" "c.8226G>T" "r.(?)" "p.Glu2742Asp" "65" "0000459734" "00007761" "50" "8270" "0" "8270" "0" "c.8270A>G" "r.(?)" "p.Asp2757Gly" "66" "0000459735" "00007761" "30" "8300" "0" "8300" "0" "c.8300A>G" "r.(?)" "p.Asn2767Ser" "66" "0000459736" "00007761" "30" "8311" "0" "8311" "0" "c.8311G>A" "r.(?)" "p.Val2771Ile" "66" "0000459737" "00007761" "50" "8327" "0" "8327" "0" "c.8327G>A" "r.(?)" "p.Arg2776Gln" "66" "0000459738" "00007761" "50" "8339" "0" "8339" "0" "c.8339T>C" "r.(?)" "p.Leu2780Pro" "66" "0000459739" "00007761" "30" "8363" "0" "8363" "0" "c.8363C>T" "r.(?)" "p.Thr2788Met" "66" "0000459740" "00007761" "50" "8378" "0" "8378" "0" "c.8378A>G" "r.(?)" "p.Tyr2793Cys" "66" "0000459741" "00007761" "50" "8393" "0" "8393" "0" "c.8393G>A" "r.(?)" "p.Gly2798Glu" "66" "0000459742" "00007761" "50" "8405" "0" "8405" "0" "c.8405G>A" "r.(?)" "p.Gly2802Asp" "66" "0000459743" "00007761" "50" "8412" "0" "8412" "0" "c.8412T>G" "r.(?)" "p.Phe2804Leu" "66" "0000459744" "00007761" "50" "8449" "0" "8449" "0" "c.8449T>G" "r.(?)" "p.Phe2817Val" "66" "0000459745" "00007761" "50" "8461" "0" "8461" "0" "c.8461A>C" "r.(?)" "p.Lys2821Gln" "66" "0000459746" "00007761" "50" "8471" "0" "8471" "0" "c.8471C>A" "r.(?)" "p.Ala2824Asp" "66" "0000459747" "00007761" "50" "8480" "0" "8480" "0" "c.8480A>C" "r.(?)" "p.Tyr2827Ser" "66" "0000459748" "00007761" "30" "8494" "0" "8494" "0" "c.8494A>G" "r.(?)" "p.Ser2832Gly" "66" "0000459749" "00007761" "50" "8543" "0" "8543" "0" "c.8543A>C" "r.(?)" "p.Lys2848Thr" "66" "0000459750" "00007761" "50" "8551" "0" "8551" "0" "c.8551A>G" "r.(?)" "p.Lys2851Glu" "66" "0000459751" "00007761" "50" "8579" "0" "8579" "0" "c.8579A>G" "r.(?)" "p.Asp2860Gly" "66" "0000459752" "00007761" "50" "8591" "0" "8591" "0" "c.8591T>A" "r.(?)" "p.Met2864Lys" "66" "0000459753" "00007761" "50" "8600" "0" "8600" "0" "c.8600A>C" "r.(?)" "p.Gln2867Pro" "66" "0000472616" "00007761" "70" "6872" "-24" "6872" "-24" "c.6872-24T>A" "r.6871_6872ins6872-22_6872-1" "p.(?)" "56" "0000472621" "00007761" "70" "7571" "-12" "7571" "-12" "c.7571-12T>A" "r.7570_7571ins7571-10_7571-1" "p.(=)" "61" "0000478185" "00007761" "50" "5459" "0" "5459" "0" "c.5459G>T" "r.(?)" "p.(Arg1820Leu)" "" "0000484301" "00007761" "50" "106" "0" "106" "0" "c.106G>A" "r.(?)" "p.(Glu36Lys)" "" "0000554533" "00007761" "90" "8578" "0" "8579" "0" "c.8578_8579dup" "r.(?)" "p.(Asp2860GlufsTer4)" "" "0000554534" "00007761" "30" "8310" "0" "8310" "0" "c.8310C>T" "r.(?)" "p.(His2770=)" "" "0000554535" "00007761" "30" "8300" "0" "8300" "0" "c.8300A>G" "r.(?)" "p.(Asn2767Ser)" "" "0000554536" "00007761" "30" "8177" "0" "8177" "0" "c.8177G>A" "r.(?)" "p.(Arg2726Gln)" "" "0000554537" "00007761" "50" "8176" "0" "8176" "0" "c.8176C>T" "r.(?)" "p.(Arg2726Trp)" "" "0000554538" "00007761" "50" "8176" "0" "8176" "0" "c.8176C>T" "r.(?)" "p.(Arg2726Trp)" "" "0000554539" "00007761" "30" "8082" "0" "8082" "0" "c.8082A>C" "r.(?)" "p.(Arg2694=)" "" "0000554540" "00007761" "90" "7974" "0" "7974" "0" "c.7974dup" "r.(?)" "p.(Cys2659LeufsTer46)" "" "0000554541" "00007761" "50" "7957" "0" "7957" "0" "c.7957G>A" "r.(?)" "p.(Gly2653Ser)" "" "0000554542" "00007761" "90" "7897" "0" "7897" "0" "c.7897T>C" "r.(?)" "p.(Cys2633Arg)" "" "0000554543" "00007761" "30" "7842" "0" "7842" "0" "c.7842T>G" "r.(?)" "p.(Ala2614=)" "" "0000554544" "00007761" "30" "7819" "8" "7819" "8" "c.7819+8A>C" "r.(=)" "p.(=)" "" "0000554545" "00007761" "70" "7708" "0" "7708" "0" "c.7708G>A" "r.(?)" "p.(Glu2570Lys)" "" "0000554546" "00007761" "30" "7661" "0" "7661" "0" "c.7661G>A" "r.(?)" "p.(Arg2554Gln)" "" "0000554547" "00007761" "50" "7438" "0" "7438" "0" "c.7438G>A" "r.(?)" "p.(Gly2480Arg)" "" "0000554548" "00007761" "50" "7423" "0" "7423" "0" "c.7423A>G" "r.(?)" "p.(Ile2475Val)" "" "0000554549" "00007761" "50" "7412" "0" "7412" "0" "c.7412C>G" "r.(?)" "p.(Pro2471Arg)" "" "0000554550" "00007761" "50" "7400" "0" "7400" "0" "c.7400A>G" "r.(?)" "p.(Gln2467Arg)" "" "0000554551" "00007761" "90" "7326" "0" "7326" "0" "c.7326T>G" "r.(?)" "p.(Cys2442Trp)" "" "0000554552" "00007761" "50" "7241" "0" "7241" "0" "c.7241G>A" "r.(?)" "p.(Arg2414Gln)" "" "0000554553" "00007761" "30" "7230" "0" "7230" "0" "c.7230C>T" "r.(?)" "p.(His2410=)" "" "0000554554" "00007761" "30" "7207" "0" "7207" "0" "c.7207A>G" "r.(?)" "p.(Ile2403Val)" "" "0000554555" "00007761" "30" "7204" "7" "7204" "7" "c.7204+7C>G" "r.(=)" "p.(=)" "" "0000554556" "00007761" "50" "7186" "0" "7186" "0" "c.7186T>C" "r.(?)" "p.(Phe2396Leu)" "" "0000554557" "00007761" "50" "7064" "0" "7064" "0" "c.7064G>A" "r.(?)" "p.(Arg2355Lys)" "" "0000554558" "00007761" "30" "7056" "0" "7056" "0" "c.7056C>T" "r.(?)" "p.(Ser2352=)" "" "0000554559" "00007761" "30" "7056" "0" "7056" "0" "c.7056C>T" "r.(?)" "p.(Ser2352=)" "" "0000554560" "00007761" "50" "7050" "0" "7050" "0" "c.7050C>T" "r.(?)" "p.(Ile2350=)" "" "0000554561" "00007761" "90" "6942" "0" "6942" "0" "c.6942C>G" "r.(?)" "p.(Tyr2314Ter)" "" "0000554562" "00007761" "50" "6917" "0" "6917" "0" "c.6917G>A" "r.(?)" "p.(Arg2306His)" "" "0000554563" "00007761" "50" "6844" "0" "6844" "0" "c.6844C>T" "r.(?)" "p.(Arg2282Trp)" "" "0000554564" "00007761" "30" "6837" "0" "6837" "0" "c.6837G>A" "r.(?)" "p.(Gly2279=)" "" "0000554565" "00007761" "30" "6834" "0" "6834" "0" "c.6834C>T" "r.(?)" "p.(Pro2278=)" "" "0000554566" "00007761" "30" "6832" "0" "6832" "0" "c.6832C>T" "r.(?)" "p.(Pro2278Ser)" "" "0000554567" "00007761" "50" "6703" "0" "6703" "0" "c.6703G>A" "r.(?)" "p.(Gly2235Arg)" "" "0000554569" "00007761" "50" "6659" "0" "6659" "0" "c.6659G>A" "r.(?)" "p.(Arg2220Gln)" "" "0000554571" "00007761" "50" "6577" "0" "6577" "0" "c.6577G>A" "r.(?)" "p.(Glu2193Lys)" "" "0000554572" "00007761" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Arg2150His)" "" "0000554573" "00007761" "10" "6393" "0" "6393" "0" "c.6393C>T" "r.(?)" "p.(Cys2131=)" "" "0000554574" "00007761" "50" "6380" "-3" "6380" "-3" "c.6380-3A>G" "r.spl?" "p.?" "" "0000554575" "00007761" "50" "6314" "0" "6314" "0" "c.6314A>T" "r.(?)" "p.(Glu2105Val)" "" "0000554576" "00007761" "30" "6288" "0" "6288" "0" "c.6288C>T" "r.(?)" "p.(Cys2096=)" "" "0000554577" "00007761" "30" "6110" "0" "6110" "0" "c.6110A>C" "r.(?)" "p.(Lys2037Thr)" "" "0000554578" "00007761" "50" "6055" "0" "6055" "0" "c.6055G>A" "r.(?)" "p.(Glu2019Lys)" "" "0000554580" "00007761" "90" "6037" "0" "6037" "0" "c.6037G>T" "r.(?)" "p.(Asp2013Tyr)" "" "0000554581" "00007761" "90" "6031" "0" "6031" "0" "c.6031T>C" "r.(?)" "p.(Cys2011Arg)" "" "0000554582" "00007761" "50" "6025" "0" "6025" "0" "c.6025G>A" "r.(?)" "p.(Glu2009Lys)" "" "0000554583" "00007761" "70" "6007" "0" "6007" "0" "c.6007G>A" "r.(?)" "p.(Gly2003Arg)" "" "0000554584" "00007761" "50" "5963" "0" "5963" "0" "c.5963C>T" "r.(?)" "p.(Thr1988Ile)" "" "0000554585" "00007761" "70" "5955" "0" "5956" "0" "c.5955_5956insGTGCAC" "r.(?)" "p.(Ala1985_Pro1986insValHis)" "" "0000554587" "00007761" "30" "5789" "-13" "5789" "-13" "c.5789-13G>A" "r.(=)" "p.(=)" "" "0000554588" "00007761" "30" "5788" "10" "5788" "10" "c.5788+10C>A" "r.(=)" "p.(=)" "" "0000554589" "00007761" "10" "5423" "-30" "5423" "-28" "c.5423-30_5423-28del" "r.(=)" "p.(=)" "" "0000554590" "00007761" "30" "5363" "0" "5363" "0" "c.5363G>C" "r.(?)" "p.(Ser1788Thr)" "" "0000554591" "00007761" "50" "5363" "0" "5363" "0" "c.5363G>C" "r.(?)" "p.(Ser1788Thr)" "" "0000554592" "00007761" "90" "5305" "0" "5305" "0" "c.5305G>A" "r.(?)" "p.(Glu1769Lys)" "" "0000554593" "00007761" "10" "5296" "14" "5296" "14" "c.5296+14G>A" "r.(=)" "p.(=)" "" "0000554595" "00007761" "50" "5123" "0" "5123" "0" "c.5123G>A" "r.(?)" "p.(Gly1708Glu)" "" "0000554596" "00007761" "10" "5066" "-14" "5066" "-14" "c.5066-14dup" "r.(=)" "p.(=)" "" "0000554597" "00007761" "10" "5066" "-14" "5066" "-14" "c.5066-14dup" "r.(=)" "p.(=)" "" "0000554598" "00007761" "90" "5015" "0" "5015" "0" "c.5015del" "r.(?)" "p.(Cys1672LeufsTer10)" "" "0000554599" "00007761" "90" "4987" "0" "4987" "0" "c.4987T>C" "r.(?)" "p.(Cys1663Arg)" "" "0000554600" "00007761" "50" "4985" "0" "4985" "0" "c.4985C>A" "r.(?)" "p.(Thr1662Lys)" "" "0000554601" "00007761" "90" "4943" "-2" "4943" "-2" "c.4943-2A>G" "r.spl?" "p.?" "" "0000554602" "00007761" "50" "4930" "0" "4930" "0" "c.4930C>T" "r.(?)" "p.(Arg1644Ter)" "" "0000554603" "00007761" "30" "4836" "0" "4836" "0" "c.4836G>A" "r.(?)" "p.(Glu1612=)" "" "0000554605" "00007761" "90" "4588" "0" "4588" "0" "c.4588C>T" "r.(?)" "p.(Arg1530Cys)" "" "0000554607" "00007761" "50" "4562" "0" "4562" "0" "c.4562C>T" "r.(?)" "p.(Pro1521Leu)" "" "0000554608" "00007761" "90" "4460" "-8" "4460" "-8" "c.4460-8G>A" "r.(=)" "p.(=)" "" "0000554610" "00007761" "90" "4433" "0" "4434" "0" "c.4433_4434del" "r.(?)" "p.(Leu1478ArgfsTer12)" "" "0000554611" "00007761" "30" "4428" "0" "4428" "0" "c.4428C>T" "r.(?)" "p.(Tyr1476=)" "" "0000554612" "00007761" "30" "4337" "-9" "4337" "-9" "c.4337-9C>T" "r.(=)" "p.(=)" "" "0000554613" "00007761" "30" "4306" "0" "4306" "0" "c.4306G>A" "r.(?)" "p.(Val1436Met)" "" "0000554614" "00007761" "50" "4270" "0" "4270" "0" "c.4270C>G" "r.(?)" "p.(Pro1424Ala)" "" "0000554615" "00007761" "50" "4214" "0" "4214" "0" "c.4214T>G" "r.(?)" "p.(Leu1405Arg)" "" "0000554616" "00007761" "30" "4214" "0" "4214" "0" "c.4214T>G" "r.(?)" "p.(Leu1405Arg)" "" "0000554617" "00007761" "50" "4214" "0" "4214" "0" "c.4214T>G" "r.(?)" "p.(Leu1405Arg)" "" "0000554618" "00007761" "30" "4214" "0" "4214" "0" "c.4214T>G" "r.(?)" "p.(Leu1405Arg)" "" "0000554619" "00007761" "50" "4150" "0" "4150" "0" "c.4150A>G" "r.(?)" "p.(Met1384Val)" "" "0000554620" "00007761" "90" "4083" "0" "4083" "0" "c.4083C>A" "r.(?)" "p.(Cys1361Ter)" "" "0000554621" "00007761" "30" "4075" "0" "4075" "0" "c.4075A>G" "r.(?)" "p.(Ile1359Val)" "" "0000554623" "00007761" "10" "3965" "-8" "3965" "-8" "c.3965-8T>C" "r.(=)" "p.(=)" "" "0000554624" "00007761" "10" "3965" "-8" "3965" "-8" "c.3965-8T>C" "r.(=)" "p.(=)" "" "0000554625" "00007761" "90" "3952" "0" "3952" "0" "c.3952del" "r.(?)" "p.(Thr1318LeufsTer95)" "" "0000554626" "00007761" "30" "3575" "0" "3575" "0" "c.3575G>A" "r.(?)" "p.(Arg1192Lys)" "" "0000554627" "00007761" "30" "3503" "0" "3503" "0" "c.3503A>G" "r.(?)" "p.(Asn1168Ser)" "" "0000554628" "00007761" "10" "3442" "0" "3442" "0" "c.3442C>G" "r.(?)" "p.(Pro1148Ala)" "" "0000554629" "00007761" "30" "3423" "0" "3423" "0" "c.3423G>A" "r.(?)" "p.(Pro1141=)" "" "0000554630" "00007761" "90" "3373" "0" "3373" "0" "c.3373C>T" "r.(?)" "p.(Arg1125Ter)" "" "0000554631" "00007761" "90" "3373" "0" "3373" "0" "c.3373C>T" "r.(?)" "p.(Arg1125Ter)" "" "0000554632" "00007761" "30" "3337" "11" "3337" "11" "c.3337+11G>A" "r.(=)" "p.(=)" "" "0000554633" "00007761" "90" "3220" "0" "3220" "0" "c.3220T>C" "r.(?)" "p.(Cys1074Arg)" "" "0000554634" "00007761" "90" "3152" "0" "3152" "0" "c.3152T>G" "r.(?)" "p.(Phe1051Cys)" "" "0000554635" "00007761" "50" "3119" "0" "3119" "0" "c.3119C>T" "r.(?)" "p.(Thr1040Ile)" "" "0000554636" "00007761" "10" "3082" "8" "3082" "8" "c.3082+8del" "r.(=)" "p.(=)" "" "0000554637" "00007761" "30" "3082" "8" "3082" "8" "c.3082+8del" "r.(=)" "p.(=)" "" "0000554638" "00007761" "10" "3082" "6" "3082" "6" "c.3082+6A>G" "r.(=)" "p.(=)" "" "0000554639" "00007761" "10" "3082" "6" "3082" "6" "c.3082+6A>G" "r.(=)" "p.(=)" "" "0000554640" "00007761" "30" "3078" "0" "3078" "0" "c.3078C>T" "r.(?)" "p.(Phe1026=)" "" "0000554641" "00007761" "30" "3069" "0" "3069" "0" "c.3069G>A" "r.(?)" "p.(Lys1023=)" "" "0000554642" "00007761" "30" "3058" "0" "3058" "0" "c.3058A>G" "r.(?)" "p.(Thr1020Ala)" "" "0000554643" "00007761" "50" "3058" "0" "3058" "0" "c.3058A>G" "r.(?)" "p.(Thr1020Ala)" "" "0000554644" "00007761" "30" "3058" "0" "3058" "0" "c.3058A>G" "r.(?)" "p.(Thr1020Ala)" "" "0000554645" "00007761" "50" "2979" "0" "2979" "0" "c.2979C>T" "r.(?)" "p.(Cys993=)" "" "0000554646" "00007761" "30" "2956" "0" "2956" "0" "c.2956G>A" "r.(?)" "p.(Ala986Thr)" "" "0000554647" "00007761" "30" "2956" "0" "2956" "0" "c.2956G>A" "r.(?)" "p.(Ala986Thr)" "" "0000554648" "00007761" "10" "2956" "0" "2956" "0" "c.2956G>A" "r.(?)" "p.(Ala986Thr)" "" "0000554649" "00007761" "90" "2953" "0" "2953" "0" "c.2953G>A" "r.(?)" "p.(Gly985Arg)" "" "0000554650" "00007761" "30" "2729" "-9" "2729" "-9" "c.2729-9del" "r.(=)" "p.(=)" "" "0000554651" "00007761" "50" "2690" "0" "2690" "0" "c.2690G>A" "r.(?)" "p.(Gly897Asp)" "" "0000554652" "00007761" "90" "2673" "0" "2673" "0" "c.2673A>G" "r.(?)" "p.(Gln891=)" "" "0000554653" "00007761" "90" "2668" "0" "2668" "0" "c.2668T>C" "r.(?)" "p.(Cys890Arg)" "" "0000554654" "00007761" "90" "2660" "0" "2660" "0" "c.2660G>A" "r.(?)" "p.(Cys887Tyr)" "" "0000554655" "00007761" "70" "2645" "0" "2645" "0" "c.2645C>T" "r.(?)" "p.(Ala882Val)" "" "0000554656" "00007761" "90" "2645" "0" "2645" "0" "c.2645del" "r.(?)" "p.(Ala882GlyfsTer30)" "" "0000554657" "00007761" "90" "2559" "0" "2559" "0" "c.2559C>G" "r.(?)" "p.(Cys853Trp)" "" "0000554658" "00007761" "50" "2508" "0" "2508" "0" "c.2508T>A" "r.(?)" "p.(Ser836Arg)" "" "0000554659" "00007761" "30" "2460" "0" "2460" "0" "c.2460C>G" "r.(?)" "p.(Val820=)" "" "0000554660" "00007761" "90" "2414" "0" "2414" "0" "c.2414G>A" "r.(?)" "p.(Cys805Tyr)" "" "0000554661" "00007761" "50" "2410" "0" "2410" "0" "c.2410A>G" "r.(?)" "p.(Thr804Ala)" "" "0000554662" "00007761" "50" "2260" "0" "2260" "0" "c.2260T>C" "r.(?)" "p.(Tyr754His)" "" "0000554663" "00007761" "30" "2228" "0" "2228" "0" "c.2228G>A" "r.(?)" "p.(Arg743His)" "" "0000554664" "00007761" "90" "2177" "0" "2177" "0" "c.2177A>G" "r.(?)" "p.(Glu726Gly)" "" "0000554665" "00007761" "30" "2168" "-10" "2168" "-10" "c.2168-10dup" "r.(=)" "p.(=)" "" "0000554666" "00007761" "50" "2114" "0" "2114" "0" "c.2114C>T" "r.(?)" "p.(Ala705Val)" "" "0000554667" "00007761" "50" "2105" "0" "2105" "0" "c.2105A>G" "r.(?)" "p.(Gln702Arg)" "" "0000554668" "00007761" "10" "1960" "30" "1960" "30" "c.1960+30G>A" "r.(=)" "p.(=)" "" "0000554669" "00007761" "50" "1885" "0" "1885" "0" "c.1885G>A" "r.(?)" "p.(Val629Ile)" "" "0000554670" "00007761" "90" "1879" "0" "1879" "0" "c.1879C>T" "r.(?)" "p.(Arg627Cys)" "" "0000554671" "00007761" "50" "1838" "-1" "1838" "-1" "c.1838-1G>C" "r.spl?" "p.?" "" "0000554672" "00007761" "50" "1676" "0" "1676" "0" "c.1676C>T" "r.(?)" "p.(Ala559Val)" "" "0000554673" "00007761" "30" "1666" "0" "1666" "0" "c.1666G>A" "r.(?)" "p.(Val556Met)" "" "0000554674" "00007761" "50" "1666" "0" "1666" "0" "c.1666G>A" "r.(?)" "p.(Val556Met)" "" "0000554675" "00007761" "30" "1602" "0" "1602" "0" "c.1602T>C" "r.(?)" "p.(Cys534=)" "" "0000554676" "00007761" "50" "1577" "0" "1577" "0" "c.1577C>T" "r.(?)" "p.(Thr526Ile)" "" "0000554677" "00007761" "30" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Ser521Asn)" "" "0000554678" "00007761" "90" "1556" "0" "1556" "0" "c.1556A>G" "r.(?)" "p.(Tyr519Cys)" "" "0000554679" "00007761" "90" "1546" "0" "1546" "0" "c.1546C>T" "r.(?)" "p.(Arg516Ter)" "" "0000554680" "00007761" "30" "1530" "0" "1530" "0" "c.1530G>A" "r.(?)" "p.(Ser510=)" "" "0000554681" "00007761" "30" "1432" "0" "1432" "0" "c.1432A>C" "r.(?)" "p.(Lys478Gln)" "" "0000554682" "00007761" "30" "1289" "0" "1289" "0" "c.1289C>T" "r.(?)" "p.(Pro430Leu)" "" "0000554683" "00007761" "50" "1285" "0" "1285" "0" "c.1285C>T" "r.(?)" "p.(Arg429Ter)" "" "0000554686" "00007761" "30" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Pro392Leu)" "" "0000554687" "00007761" "50" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Pro392Leu)" "" "0000554688" "00007761" "50" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Pro392Leu)" "" "0000554689" "00007761" "50" "1066" "0" "1066" "0" "c.1066del" "r.(?)" "p.(Met356CysfsTer39)" "" "0000554690" "00007761" "10" "1029" "0" "1029" "0" "c.1029G>A" "r.(?)" "p.(Gly343=)" "" "0000554691" "00007761" "50" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.(Gly343Arg)" "" "0000554692" "00007761" "50" "1011" "0" "1011" "0" "c.1011C>A" "r.(?)" "p.(Tyr337Ter)" "" "0000554693" "00007761" "30" "999" "0" "999" "0" "c.999A>C" "r.(?)" "p.(Pro333=)" "" "0000554694" "00007761" "30" "999" "0" "999" "0" "c.999A>C" "r.(?)" "p.(Pro333=)" "" "0000554695" "00007761" "50" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332Cys)" "" "0000554696" "00007761" "90" "986" "0" "986" "0" "c.986dup" "r.(?)" "p.(Asp330ArgfsTer18)" "" "0000554697" "00007761" "50" "971" "0" "971" "0" "c.971A>G" "r.(?)" "p.(Asp324Gly)" "" "0000554698" "00007761" "30" "918" "0" "918" "0" "c.918C>T" "r.(?)" "p.(Asn306=)" "" "0000554699" "00007761" "50" "902" "0" "902" "0" "c.902G>T" "r.(?)" "p.(Gly301Val)" "" "0000554700" "00007761" "30" "902" "0" "902" "0" "c.902G>T" "r.(?)" "p.(Gly301Val)" "" "0000554701" "00007761" "30" "902" "0" "902" "0" "c.902G>T" "r.(?)" "p.(Gly301Val)" "" "0000554702" "00007761" "50" "863" "0" "863" "0" "c.863A>G" "r.(?)" "p.(Asp288Gly)" "" "0000554703" "00007761" "50" "796" "0" "796" "0" "c.796G>A" "r.(?)" "p.(Val266Ile)" "" "0000554704" "00007761" "30" "783" "0" "783" "0" "c.783T>C" "r.(?)" "p.(Asn261=)" "" "0000554705" "00007761" "10" "783" "0" "783" "0" "c.783T>C" "r.(?)" "p.(Asn261=)" "" "0000554707" "00007761" "90" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "0000554708" "00007761" "50" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232Cys)" "" "0000554709" "00007761" "50" "572" "0" "572" "0" "c.572G>T" "r.(?)" "p.(Ser191Ile)" "" "0000554710" "00007761" "30" "538" "4" "538" "4" "c.538+4A>G" "r.spl?" "p.?" "" "0000554711" "00007761" "30" "538" "4" "538" "4" "c.538+4A>G" "r.spl?" "p.?" "" "0000554712" "00007761" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Gln147Ter)" "" "0000554713" "00007761" "50" "328" "0" "328" "0" "c.328T>C" "r.(?)" "p.(Ser110Pro)" "" "0000554714" "00007761" "50" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Arg)" "" "0000578029" "00007761" "50" "5833" "0" "5833" "0" "c.5833G>T" "r.(?)" "p.(Gly1945Cys)" "48" "0000615355" "00007761" "30" "8232" "0" "8232" "0" "c.8232G>C" "r.(?)" "p.(Gln2744His)" "" "0000615356" "00007761" "30" "8176" "0" "8176" "0" "c.8176C>T" "r.(?)" "p.(Arg2726Trp)" "" "0000615357" "00007761" "90" "7828" "0" "7828" "0" "c.7828G>A" "r.(?)" "p.(Glu2610Lys)" "" "0000615358" "00007761" "10" "7819" "8" "7819" "8" "c.7819+8A>C" "r.(=)" "p.(=)" "" "0000615359" "00007761" "30" "7602" "0" "7602" "0" "c.7602G>T" "r.(?)" "p.(Leu2534=)" "" "0000615360" "00007761" "30" "7572" "0" "7572" "0" "c.7572T>C" "r.(?)" "p.(Asp2524=)" "" "0000615361" "00007761" "50" "7379" "0" "7379" "0" "c.7379A>G" "r.(?)" "p.(Lys2460Arg)" "" "0000615362" "00007761" "50" "7072" "0" "7072" "0" "c.7072G>A" "r.(?)" "p.(Val2358Ile)" "" "0000615363" "00007761" "30" "6837" "0" "6837" "0" "c.6837G>A" "r.(?)" "p.(Gly2279=)" "" "0000615364" "00007761" "50" "6535" "0" "6535" "0" "c.6535G>A" "r.(?)" "p.(Gly2179Arg)" "" "0000615365" "00007761" "50" "6314" "0" "6314" "0" "c.6314A>T" "r.(?)" "p.(Glu2105Val)" "" "0000615366" "00007761" "50" "6302" "0" "6302" "0" "c.6302C>T" "r.(?)" "p.(Thr2101Met)" "" "0000615367" "00007761" "30" "5423" "-30" "5423" "-28" "c.5423-30_5423-28del" "r.(=)" "p.(=)" "" "0000615368" "00007761" "30" "5065" "19" "5065" "19" "c.5065+19C>G" "r.(=)" "p.(=)" "" "0000615369" "00007761" "50" "4583" "-47" "4583" "-47" "c.4583-47dup" "r.(=)" "p.(=)" "" "0000615370" "00007761" "90" "4370" "0" "4370" "0" "c.4370del" "r.(?)" "p.(Val1457AlafsTer18)" "" "0000615371" "00007761" "30" "4337" "-6" "4337" "-6" "c.4337-6C>G" "r.(=)" "p.(=)" "" "0000615372" "00007761" "30" "4214" "0" "4214" "0" "c.4214T>G" "r.(?)" "p.(Leu1405Arg)" "" "0000615373" "00007761" "30" "3837" "0" "3837" "0" "c.3837A>G" "r.(?)" "p.(Val1279=)" "" "0000615374" "00007761" "10" "3294" "0" "3294" "0" "c.3294C>T" "r.(?)" "p.(Asp1098=)" "" "0000615375" "00007761" "30" "3058" "0" "3058" "0" "c.3058A>G" "r.(?)" "p.(Thr1020Ala)" "" "0000615376" "00007761" "50" "2600" "0" "2600" "0" "c.2600A>G" "r.(?)" "p.(Asn867Ser)" "" "0000615377" "00007761" "50" "2267" "0" "2267" "0" "c.2267T>C" "r.(?)" "p.(Val756Ala)" "" "0000615378" "00007761" "30" "2206" "0" "2206" "0" "c.2206A>G" "r.(?)" "p.(Asn736Asp)" "" "0000615379" "00007761" "30" "2175" "0" "2175" "0" "c.2175T>C" "r.(?)" "p.(Asn725=)" "" "0000615380" "00007761" "50" "1717" "0" "1717" "0" "c.1717A>G" "r.(?)" "p.(Met573Val)" "" "0000615381" "00007761" "50" "1036" "0" "1036" "0" "c.1036T>C" "r.(?)" "p.(Ser346Pro)" "" "0000615382" "00007761" "50" "863" "0" "863" "0" "c.863A>G" "r.(?)" "p.(Asp288Gly)" "" "0000615384" "00007761" "70" "643" "0" "643" "0" "c.643C>T" "r.(?)" "p.(Arg215Ter)" "" "0000615385" "00007761" "30" "164" "10" "164" "10" "c.164+10C>G" "r.(=)" "p.(=)" "" "0000615386" "00007761" "30" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Ala27Thr)" "" "0000620308" "00007761" "50" "576" "0" "576" "0" "c.576C>G" "r.(?)" "p.(Asn192Lys)" "" "0000620309" "00007761" "50" "6604" "0" "6604" "0" "c.6604A>G" "r.(?)" "p.(Met2202Val)" "" "0000620310" "00007761" "50" "7119" "0" "7119" "0" "c.7119C>T" "r.(=)" "p.(=)" "" "0000623242" "00007761" "30" "8082" "0" "8082" "0" "c.8082A>C" "r.(?)" "p.(Arg2694=)" "" "0000623243" "00007761" "70" "7684" "0" "7684" "0" "c.7684G>T" "r.(?)" "p.(Gly2562Cys)" "" "0000623245" "00007761" "50" "6917" "0" "6917" "0" "c.6917G>A" "r.(?)" "p.(Arg2306His)" "" "0000623247" "00007761" "50" "4444" "0" "4444" "0" "c.4444G>A" "r.(?)" "p.(Gly1482Ser)" "" "0000623248" "00007761" "30" "4187" "0" "4187" "0" "c.4187C>T" "r.(?)" "p.(Thr1396Ile)" "" "0000623249" "00007761" "90" "4087" "1" "4087" "1" "c.4087+1G>T" "r.spl?" "p.?" "" "0000623250" "00007761" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954Cys)" "" "0000623251" "00007761" "30" "863" "-26" "863" "-26" "c.863-26C>T" "r.(=)" "p.(=)" "" "0000629180" "00007761" "90" "175" "0" "175" "0" "c.175T>C" "r.(?)" "p.(Cys59Arg)" "2" "0000647200" "00007761" "70" "8038" "0" "8038" "0" "c.8038C>T" "r.(?)" "p.(Arg2680Cys)" "" "0000649089" "00007761" "70" "8412" "0" "8417" "0" "c.8412_8417del" "r.(?)" "p.(Lys2805_Ile2806del)" "" "0000649090" "00007761" "70" "7132" "0" "7132" "0" "c.7132T>C" "r.(?)" "p.(Cys2378Arg)" "" "0000649091" "00007761" "50" "7072" "0" "7072" "0" "c.7072G>A" "r.(?)" "p.(Val2358Ile)" "" "0000649092" "00007761" "50" "6448" "0" "6448" "0" "c.6448C>T" "r.(?)" "p.(Arg2150Cys)" "" "0000649093" "00007761" "70" "6418" "0" "6418" "0" "c.6418G>A" "r.(?)" "p.(Gly2140Arg)" "" "0000649094" "00007761" "50" "6313" "0" "6313" "0" "c.6313G>C" "r.(?)" "p.(Glu2105Gln)" "" "0000649095" "00007761" "70" "5888" "0" "5888" "0" "c.5888del" "r.(?)" "p.(Glu1963Glyfs*17)" "" "0000649096" "00007761" "90" "5746" "0" "5746" "0" "c.5746T>C" "r.(?)" "p.(Cys1916Arg)" "" "0000649097" "00007761" "70" "5552" "0" "5552" "0" "c.5552A>G" "r.(?)" "p.(Asn1851Ser)" "" "0000649098" "00007761" "70" "5437" "0" "5437" "0" "c.5437C>T" "r.(?)" "p.(Gln1813*)" "" "0000649099" "00007761" "90" "4621" "0" "4621" "0" "c.4621C>T" "r.(?)" "p.(Arg1541*)" "" "0000649100" "00007761" "70" "4337" "-2" "4337" "-2" "c.4337-2A>G" "r.spl?" "p.?" "" "0000649101" "00007761" "50" "4001" "0" "4001" "0" "c.4001G>A" "r.(?)" "p.(Gly1334Asp)" "" "0000649102" "00007761" "70" "3838" "0" "3838" "0" "c.3838G>A" "r.(?)" "p.(Asp1280Asn)" "" "0000649103" "00007761" "90" "3463" "1" "3463" "1" "c.3463+1G>T" "r.spl?" "p.?" "" "0000649104" "00007761" "10" "3442" "0" "3442" "0" "c.3442C>G" "r.(?)" "p.(Pro1148Ala)" "" "0000649105" "00007761" "30" "3294" "0" "3294" "0" "c.3294C>T" "r.(=)" "p.(=)" "" "0000649106" "00007761" "50" "3058" "0" "3058" "0" "c.3058A>G" "r.(?)" "p.(Thr1020Ala)" "" "0000649107" "00007761" "30" "2956" "0" "2956" "0" "c.2956G>A" "r.(?)" "p.(Ala986Thr)" "" "0000649108" "00007761" "70" "2942" "0" "2942" "0" "c.2942G>C" "r.(?)" "p.(Cys981Ser)" "" "0000649109" "00007761" "70" "2833" "0" "2833" "0" "c.2833del" "r.(?)" "p.(Ala945Profs*16)" "" "0000649110" "00007761" "90" "2671" "0" "2671" "0" "c.2671C>T" "r.(?)" "p.(Gln891*)" "" "0000649111" "00007761" "70" "2645" "0" "2645" "0" "c.2645C>T" "r.(?)" "p.(Ala882Val)" "" "0000649112" "00007761" "70" "2496" "0" "2496" "0" "c.2496T>G" "r.(?)" "p.(Cys832Trp)" "" "0000649113" "00007761" "50" "2303" "0" "2303" "0" "c.2303A>C" "r.(?)" "p.(Glu768Ala)" "" "0000649114" "00007761" "50" "1876" "0" "1876" "0" "c.1876G>T" "r.(?)" "p.(Gly626Trp)" "" "0000649115" "00007761" "90" "1585" "0" "1585" "0" "c.1585C>T" "r.(?)" "p.(Arg529*)" "" "0000649116" "00007761" "90" "1095" "0" "1095" "0" "c.1095C>A" "r.(?)" "p.(Cys365*)" "" "0000649117" "00007761" "70" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "0000653009" "00007761" "30" "3513" "0" "3513" "0" "c.3513C>T" "r.(=)" "p.(=)" "" "0000653010" "00007761" "90" "1664" "0" "1664" "0" "c.1664G>T" "r.(?)" "p.(Cys555Phe)" "" "0000653125" "00007761" "50" "7999" "0" "7999" "0" "c.7999G>A" "r.(?)" "p.(Glu2667Lys)" "" "0000653126" "00007761" "70" "5699" "0" "5699" "0" "c.5699G>A" "r.(?)" "p.(Cys1900Tyr)" "" "0000653127" "00007761" "70" "4259" "0" "4259" "0" "c.4259G>A" "r.(?)" "p.(Cys1420Tyr)" "" "0000653128" "00007761" "70" "1552" "0" "1552" "0" "c.1552G>A" "r.(?)" "p.(Gly518Arg)" "" "0000653129" "00007761" "90" "539" "-1" "539" "-1" "c.539-1G>A" "r.spl?" "p.?" "" "0000653130" "00007761" "90" "164" "1" "164" "1" "c.164+1G>A" "r.spl?" "p.?" "" "0000657593" "00007761" "50" "8537" "0" "8537" "0" "c.8537A>G" "r.(?)" "p.(Glu2846Gly)" "" "0000657594" "00007761" "30" "6872" "-242" "6872" "-242" "c.6872-242C>T" "r.(=)" "p.(=)" "" "0000657595" "00007761" "50" "5356" "0" "5356" "0" "c.5356G>C" "r.(?)" "p.(Val1786Leu)" "" "0000657596" "00007761" "30" "3493" "0" "3493" "0" "c.3493C>T" "r.(?)" "p.(Leu1165=)" "" "0000657597" "00007761" "30" "2294" "-9" "2294" "-4" "c.2294-9_2294-4del" "r.spl?" "p.?" "" "0000657598" "00007761" "50" "1895" "0" "1895" "0" "c.1895A>G" "r.(?)" "p.(Asp632Gly)" "" "0000657599" "00007761" "30" "1588" "264" "1588" "264" "c.1588+264T>C" "r.(=)" "p.(=)" "" "0000657600" "00007761" "30" "442" "85" "442" "85" "c.442+85C>G" "r.(=)" "p.(=)" "" "0000657601" "00007761" "30" "346" "262" "346" "262" "c.346+262G>A" "r.(=)" "p.(=)" "" "0000659801" "00007761" "70" "4583" "-1" "4583" "-1" "c.4583-1G>A" "r.spl" "p.?" "" "0000659802" "00007761" "70" "4234" "0" "4234" "0" "c.4234del" "r.(?)" "p.(Leu1412*)" "35" "0000659803" "00007761" "70" "2986" "0" "2986" "0" "c.2986T>G" "r.(?)" "p.(Cys996Gly)" "25" "0000659805" "00007761" "90" "3337" "1" "3337" "1" "c.3337+1G>C" "r.spl" "p.?" "" "0000659806" "00007761" "90" "3316" "0" "3316" "0" "c.3316A>G" "r.(?)" "p.(Met1106Val)" "27" "0000659807" "00007761" "90" "479" "0" "479" "0" "c.479G>A" "r.(?)" "p.(Cys160Tyr)" "6" "0000659808" "00007761" "90" "4234" "0" "4234" "0" "c.4234del" "r.(?)" "p.(Leu1412*)" "35" "0000659809" "00007761" "90" "7252" "0" "7252" "0" "c.7252T>A" "r.(?)" "p.(Cys2418Ser)" "59" "0000659810" "00007761" "90" "4396" "0" "4396" "0" "c.4396G>T" "r.(?)" "p.(Gly1466Cys)" "36" "0000659811" "00007761" "90" "5740" "0" "5740" "0" "c.5740T>A" "r.(?)" "p.(Cys1914Ser)" "47" "0000659812" "00007761" "90" "6064" "0" "6064" "0" "c.6064G>T" "r.(?)" "p.(Glu2022*)" "50" "0000659813" "00007761" "90" "710" "0" "710" "0" "c.710C>A" "r.(?)" "p.(Pro237Gln)" "7" "0000659931" "00007761" "90" "4911" "0" "4911" "0" "c.4911C>G" "r.(?)" "p.(Tyr1637*)" "39" "0000660047" "00007761" "90" "4127" "0" "4127" "0" "c.4127A>G" "r.(?)" "p.(Gln1376Arg)" "34" "0000660048" "00007761" "90" "4127" "0" "4127" "0" "c.4127A>G" "r.(?)" "p.(Gln1376Arg)" "34" "0000660049" "00007761" "90" "4396" "0" "4396" "0" "c.4396G>T" "r.(?)" "p.(Gly1466Cys)" "36" "0000660050" "00007761" "90" "416" "0" "416" "0" "c.416G>T" "r.(?)" "p.(Gly139Val)" "5" "0000660051" "00007761" "90" "2087" "0" "2087" "0" "c.2087G>A" "r.(?)" "p.(Cys696Tyr)" "17" "0000660052" "00007761" "90" "4396" "0" "4396" "0" "c.4396G>T" "r.(?)" "p.(Gly1466Cys)" "36" "0000660053" "00007761" "90" "6625" "0" "6625" "0" "c.6625G>A" "r.(?)" "p.(Glu2209Lys)" "56" "0000660054" "00007761" "90" "7252" "0" "7252" "0" "c.7252T>A" "r.(?)" "p.(Cys2418Ser)" "59" "0000660055" "00007761" "90" "2986" "0" "2986" "0" "c.2986T>G" "r.(?)" "p.(Cys996Gly)" "25" "0000660056" "00007761" "90" "479" "0" "479" "0" "c.479G>A" "r.(?)" "p.(Cys160Tyr)" "6" "0000660449" "00007761" "70" "6354" "0" "6354" "0" "c.6354C>T" "r.(?)" "p.(Ile2118Ile)" "" "0000667875" "00007761" "70" "0" "0" "0" "0" "c.-395_(1837+1_1838-1){0}" "r.0?" "p.0?" "_1_15i" "0000667876" "00007761" "70" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Cys377Tyr)" "10" "0000667877" "00007761" "70" "1463" "0" "1463" "0" "c.1463G>A" "r.(?)" "p.(Cys488Tyr)" "12" "0000667878" "00007761" "70" "1469" "0" "1838" "0" "c.(1468+1_1469-1)_(1837+1_1838-1)del" "r.?" "p.?" "12i_15i" "0000667879" "00007761" "70" "1469" "0" "1838" "0" "c.(1468+1_1469-1)_(1837+1_1838-1)del" "r.?" "p.?" "12i_15i" "0000667880" "00007761" "70" "1867" "0" "1867" "0" "c.1867T>A" "r.(?)" "p.(Cys623Ser)" "16" "0000667881" "00007761" "70" "2419" "3" "2419" "3" "c.2419+3delinsTTTTAGATCCATATTTTAG" "r.spl" "p.?" "20i" "0000667882" "00007761" "70" "3589" "1" "3589" "1" "c.3589+1G>A" "r.spl" "p.?" "29i" "0000667883" "00007761" "70" "4491" "0" "4491" "0" "c.4491C>G" "r.(?)" "p.(Cys1497Trp)" "37" "0000667884" "00007761" "70" "4781" "0" "4781" "0" "c.4781del" "r.(?)" "p.(Gly1594Valfs*46)" "39" "0000667885" "00007761" "70" "4817" "-1" "4819" "0" "c.4817-1_4819del" "r.spl" "p.?" "39i_40" "0000667886" "00007761" "70" "5467" "0" "5474" "0" "c.5467_5474dup" "r.(?)" "p.(Ile1825Metfs*71)" "45" "0000667887" "00007761" "70" "5621" "0" "5621" "0" "c.5621G>T" "r.(?)" "p.(Cys1874Phe)" "46" "0000667888" "00007761" "70" "5671" "0" "5671" "0" "c.5671G>A" "r.(?)" "p.(Asp1891Asn)" "46" "0000667889" "00007761" "70" "5917" "1" "5917" "1" "c.5917+1G>T" "r.spl" "p.?" "48i" "0000667890" "00007761" "70" "5966" "0" "5966" "0" "c.5966G>C" "r.(?)" "p.(Cys1989Ser)" "49" "0000667891" "00007761" "70" "5993" "0" "5993" "0" "c.5993G>T" "r.(?)" "p.(Cys1998Phe)" "49" "0000667892" "00007761" "70" "7205" "0" "7820" "0" "c.(7204+1_7205-1)_(7819+1_7820-1)del" "r.?" "p.?" "58i_63i" "0000667893" "00007761" "70" "7817" "0" "7817" "0" "c.7817T>A" "r.(?)" "p.(Val2606Asp)" "63" "0000669285" "00007761" "70" "7132" "0" "7132" "0" "c.7132T>C" "r.(?)" "p.(Cys2378Arg)" "" "0000669286" "00007761" "10" "3442" "0" "3442" "0" "c.3442C>G" "r.(?)" "p.(Pro1148Ala)" "" "0000669287" "00007761" "50" "2303" "0" "2303" "0" "c.2303A>C" "r.(?)" "p.(Glu768Ala)" "" "0000673900" "00007761" "90" "1095" "0" "1095" "0" "c.1095C>A" "r.(?)" "p.(Cys365*)" "" "0000673901" "00007761" "90" "3158" "0" "3158" "0" "c.3158G>A" "r.(?)" "p.(Cys1053Tyr)" "" "0000673902" "00007761" "90" "2678" "-1" "2678" "-1" "c.2678-1G>C" "r.spl" "p.?" "" "0000680189" "00007761" "30" "8219" "0" "8219" "0" "c.8219A>G" "r.(?)" "p.(Asn2740Ser)" "" "0000680190" "00007761" "30" "6997" "3" "6997" "3" "c.6997+3G>A" "r.spl?" "p.?" "" "0000680191" "00007761" "70" "6448" "0" "6448" "0" "c.6448C>T" "r.(?)" "p.(Arg2150Cys)" "" "0000680192" "00007761" "30" "6417" "0" "6417" "0" "c.6417T>C" "r.(?)" "p.(His2139=)" "" "0000680193" "00007761" "30" "6164" "-3" "6164" "-3" "c.6164-3C>T" "r.spl?" "p.?" "" "0000680194" "00007761" "50" "5732" "0" "5732" "0" "c.5732C>T" "r.(?)" "p.(Ser1911Phe)" "" "0000680195" "00007761" "30" "4875" "0" "4875" "0" "c.4875C>G" "r.(?)" "p.(Thr1625=)" "" "0000680196" "00007761" "50" "4339" "0" "4339" "0" "c.4339A>G" "r.(?)" "p.(Ile1447Val)" "" "0000680197" "00007761" "10" "4337" "-48" "4337" "-48" "c.4337-48dup" "r.(=)" "p.(=)" "" "0000680198" "00007761" "30" "2934" "0" "2934" "0" "c.2934C>G" "r.(?)" "p.(Asp978Glu)" "" "0000680199" "00007761" "30" "1211" "0" "1211" "0" "c.1211C>G" "r.(?)" "p.(Pro404Arg)" "" "0000680200" "00007761" "90" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Arg165Ter)" "" "0000680201" "00007761" "90" "247" "1" "247" "1" "c.247+1G>A" "r.spl?" "p.?" "" "0000680202" "00007761" "50" "133" "0" "133" "0" "c.133A>G" "r.(?)" "p.(Arg45Gly)" "" "0000683552" "00007761" "90" "2626" "0" "2634" "0" "c.2626_2634del" "r.(?)" "p.(Cys876_Ser878del)" "" "0000691807" "00007761" "50" "6461" "0" "6461" "0" "c.6461C>G" "r.(?)" "p.(Pro2154Arg)" "" "0000691808" "00007761" "30" "6302" "0" "6302" "0" "c.6302C>T" "r.(?)" "p.(Thr2101Met)" "" "0000691809" "00007761" "30" "3082" "133" "3082" "133" "c.3082+133T>A" "r.(=)" "p.(=)" "" "0000691810" "00007761" "70" "2389" "0" "2389" "0" "c.2389dup" "r.(?)" "p.(Ile797AsnfsTer5)" "" "0000691811" "00007761" "30" "2113" "233" "2113" "233" "c.2113+233A>G" "r.(=)" "p.(=)" "" "0000691812" "00007761" "30" "-181" "-280" "-181" "-280" "c.-181-280C>G" "r.(=)" "p.(=)" "" "0000701790" "00007761" "70" "3902" "0" "3902" "0" "c.3902G>T" "r.(?)" "p.(Gly1301Val)" "" "0000708485" "00007761" "70" "3635" "0" "3635" "0" "c.3635G>A " "r.(?)" "p.(Cys1212Tyr)" "30" "0000708486" "00007761" "70" "5671" "1" "5671" "1" "c.5671+1G>C" "r.spl" "p.?" "46i" "0000710186" "00007761" "90" "794" "0" "795" "0" "c.794_795insGTAT" "r.(?)" "p.(Val266Tyrfs*6)" "" "0000711131" "00007761" "70" "3649" "0" "3649" "0" "c.3649G>T" "r.(?)" "p.(Gly1217Cys)" "" "0000713952" "00007761" "90" "5549" "0" "5549" "0" "c.5549G>A" "r.(?)" "p.(Arg1850His)" "" "0000725139" "00007761" "70" "7540" "0" "7540" "0" "c.7540G>A" "r.(?)" "p.(Gly2514Arg)" "" "0000725140" "00007761" "50" "7193" "0" "7193" "0" "c.7193C>T" "r.(?)" "p.(Thr2398Ile)" "" "0000725141" "00007761" "30" "7050" "0" "7050" "0" "c.7050C>T" "r.(?)" "p.(Ile2350=)" "" "0000725142" "00007761" "30" "6855" "0" "6855" "0" "c.6855T>C" "r.(?)" "p.(Asp2285=)" "" "0000725143" "00007761" "30" "6616" "126" "6616" "126" "c.6616+126G>A" "r.(=)" "p.(=)" "" "0000725144" "00007761" "30" "6594" "0" "6594" "0" "c.6594C>T" "r.(?)" "p.(Pro2198=)" "" "0000725145" "00007761" "30" "6038" "-8" "6038" "-8" "c.6038-8T>A" "r.(=)" "p.(=)" "" "0000725146" "00007761" "30" "5343" "0" "5343" "0" "c.5343G>A" "r.(?)" "p.(Val1781=)" "" "0000725147" "00007761" "30" "5297" "-77" "5297" "-77" "c.5297-77G>A" "r.(=)" "p.(=)" "" "0000725148" "00007761" "90" "5284" "0" "5284" "0" "c.5284G>A" "r.(?)" "p.(Gly1762Ser)" "" "0000725149" "00007761" "30" "5066" "-12" "5066" "-12" "c.5066-12C>T" "r.(=)" "p.(=)" "" "0000725150" "00007761" "30" "4905" "0" "4905" "0" "c.4905C>G" "r.(?)" "p.(Thr1635=)" "" "0000725151" "00007761" "30" "4748" "-249" "4748" "-249" "c.4748-249G>T" "r.(=)" "p.(=)" "" "0000725152" "00007761" "30" "4747" "8" "4747" "8" "c.4747+8G>A" "r.(=)" "p.(=)" "" "0000725153" "00007761" "70" "4588" "0" "4588" "0" "c.4588C>G" "r.(?)" "p.(Arg1530Gly)" "" "0000725154" "00007761" "50" "4193" "0" "4193" "0" "c.4193A>G" "r.(?)" "p.(Asp1398Gly)" "" "0000725155" "00007761" "30" "3936" "0" "3936" "0" "c.3936C>T" "r.(?)" "p.(Ser1312=)" "" "0000725156" "00007761" "30" "3422" "0" "3422" "0" "c.3422C>T" "r.(?)" "p.(Pro1141Leu)" "" "0000725157" "00007761" "50" "3295" "0" "3295" "0" "c.3295G>A" "r.(?)" "p.(Glu1099Lys)" "" "0000725158" "00007761" "30" "3083" "-151" "3083" "-151" "c.3083-151C>T" "r.(=)" "p.(=)" "" "0000725159" "00007761" "50" "2979" "0" "2979" "0" "c.2979C>T" "r.(?)" "p.(Cys993=)" "" "0000725160" "00007761" "30" "2294" "-321" "2294" "-321" "c.2294-321A>C" "r.(=)" "p.(=)" "" "0000725161" "00007761" "30" "1746" "0" "1746" "0" "c.1746C>T" "r.(?)" "p.(Cys582=)" "" "0000725162" "00007761" "30" "1589" "-215" "1589" "-215" "c.1589-215A>G" "r.(=)" "p.(=)" "" "0000725163" "00007761" "30" "442" "15" "442" "15" "c.442+15G>T" "r.(=)" "p.(=)" "" "0000725164" "00007761" "30" "164" "130" "164" "130" "c.164+130G>A" "r.(=)" "p.(=)" "" "0000729934" "00007761" "90" "6872" "-1" "6872" "-1" "c.6872-1G>A" "r.spl?" "p.?" "" "0000729935" "00007761" "90" "2051" "0" "2051" "0" "c.2051G>A" "r.(?)" "p.(Cys684Tyr)" "" "0000729936" "00007761" "90" "5284" "0" "5284" "0" "c.5284G>A" "r.(?)" "p.(Gly1762Ser)" "" "0000729937" "00007761" "90" "5096" "0" "5096" "0" "c.5096A>G" "r.(?)" "p.(Tyr1699Cys)" "" "0000729938" "00007761" "90" "2625" "0" "2633" "0" "c.2625_2633del" "r.(?)" "p.(Cys876_Ser878del)" "" "0000760808" "00007761" "70" "5183" "0" "5183" "0" "c.5183C>T" "r.(?)" "p.(Ala1728Val)" "42" "0000760928" "00007761" "50" "2204" "0" "2204" "0" "c.2204C>G" "r.(?)" "p.(Pro735Arg)" "" "0000765438" "00007761" "90" "725" "0" "725" "0" "c.725del" "r.(?)" "p.(Gly242GlufsTer88)" "" "0000765455" "00007761" "70" "3849" "0" "3849" "0" "c.3849G>C" "r.(?)" "p.(Glu1283Asp)" "" "0000765477" "00007761" "70" "6709" "0" "6709" "0" "c.6709G>A" "r.(?)" "p.(Val2237Met)" "" "0000783785" "00007761" "90" "933" "0" "933" "0" "c.933C>A" "r.(?)" "p.(Tyr311*)" "9" "0000784699" "00007761" "90" "5672" "-2" "5672" "-2" "c.5672-2del" "r.5671_5672ins[5671+1_5672-3;g]" "p.?" "46i" "0000790081" "00007761" "90" "2920" "0" "2920" "0" "c.2920C>T" "r.(?)" "p.(Arg974Cys)" "" "0000790083" "00007761" "90" "3794" "0" "3794" "0" "c.3794G>A" "r.(?)" "p.(Cys1265Tyr)" "" "0000790293" "00007761" "90" "5788" "5" "5788" "5" "c.5788+5G>A" "r.spl?" "p.?" "" "0000790294" "00007761" "90" "2534" "0" "2534" "0" "c.2534G>T" "r.(?)" "p.(Cys845Phe)" "" "0000790295" "00007761" "90" "2414" "0" "2414" "0" "c.2414G>A" "r.(?)" "p.(Cys805Tyr)" "" "0000790296" "00007761" "90" "5801" "0" "5801" "0" "c.5801G>C" "r.(?)" "p.(Cys1934Ser)" "" "0000790297" "00007761" "90" "2415" "0" "2415" "0" "c.2415T>G" "r.(?)" "p.(Cys805Trp)" "" "0000790298" "00007761" "90" "1658" "0" "1658" "0" "c.1658T>G" "r.(?)" "p.(Phe553Cys)" "" "0000790303" "00007761" "70" "2848" "0" "2848" "0" "c.2848T>C" "r.(?)" "p.(Cys950Arg)" "" "0000790305" "00007761" "90" "5503" "0" "5503" "0" "c.5503T>A" "r.(?)" "p.(Cys1835Ser)" "" "0000790306" "00007761" "70" "1709" "0" "1709" "0" "c.1709G>C" "r.(?)" "p.(Cys570Ser)" "" "0000790307" "00007761" "70" "2804" "0" "2804" "0" "c.2804G>A" "r.(?)" "p.(Cys935Tyr)" "" "0000790308" "00007761" "70" "479" "0" "479" "0" "c.479G>A" "r.(?)" "p.(Cys160Tyr)" "" "0000790309" "00007761" "90" "3148" "0" "3148" "0" "c.3148A>T" "r.(?)" "p.(Ser1050Cys)" "" "0000790387" "00007761" "90" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62Cys)" "" "0000790664" "00007761" "70" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Arg565*)" "" "0000790665" "00007761" "70" "4285" "0" "4285" "0" "c.4285T>C" "r.(?)" "p.(Cys1429Arg)" "" "0000790666" "00007761" "70" "1727" "0" "1727" "0" "c.1727G>A" "r.(?)" "p.(Cys576Tyr)" "" "0000790667" "00007761" "70" "4537" "0" "4537" "0" "c.4537T>C" "r.(?)" "p.(Cys1513Arg)" "" "0000790668" "00007761" "70" "1638" "0" "1638" "0" "c.1638C>G" "r.(?)" "p.(Cys546Trp)" "" "0000790669" "00007761" "70" "338" "0" "338" "0" "c.338C>G" "r.(?)" "p.(Ser113Cys)" "" "0000790670" "00007761" "70" "4982" "0" "4982" "0" "c.4982G>A" "r.(?)" "p.(Gly1661Glu)" "" "0000790671" "00007761" "70" "6697" "0" "6697" "0" "c.6697C>G" "r.(?)" "p.(Pro2233Ala)" "" "0000790672" "00007761" "70" "2724" "0" "2724" "0" "c.2724T>G" "r.(?)" "p.(Cys908Trp)" "" "0000790673" "00007761" "70" "1600" "0" "1600" "0" "c.1600T>C" "r.(?)" "p.(Cys534Arg)" "" "0000790679" "00007761" "70" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Cys150Tyr)" "" "0000790692" "00007761" "70" "6688" "0" "6688" "0" "c.6688T>C" "r.(?)" "p.(Cys2230Arg)" "" "0000790693" "00007761" "70" "2722" "0" "2722" "0" "c.2722T>C" "r.(?)" "p.(Cys908Arg)" "" "0000790706" "00007761" "70" "4601" "0" "4601" "0" "c.4601G>T" "r.(?)" "p.(Cys1534Phe)" "" "0000790707" "00007761" "70" "4694" "0" "4694" "0" "c.4694C>T" "r.(?)" "p.(Ser1565Phe)" "" "0000790708" "00007761" "70" "4930" "0" "4930" "0" "c.4930C>T" "r.(?)" "p.(Arg1644*)" "" "0000790709" "00007761" "70" "1904" "0" "1904" "0" "c.1904A>G" "r.(?)" "p.(Tyr635Cys)" "" "0000790711" "00007761" "70" "199" "0" "199" "0" "c.199T>C" "r.(?)" "p.(Cys67Arg)" "" "0000790714" "00007761" "70" "3476" "0" "3476" "0" "c.3476G>T" "r.(?)" "p.(Cys1159Phe)" "" "0000790715" "00007761" "70" "2054" "0" "2054" "0" "c.2054G>A" "r.(?)" "p.(Cys685Tyr)" "" "0000790717" "00007761" "70" "6158" "0" "6158" "0" "c.6158G>T" "r.(?)" "p.(Cys2053Phe)" "" "0000790747" "00007761" "70" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "0000790748" "00007761" "70" "4143" "0" "4145" "0" "c.4143_4145del" "r.(?)" "p.(Lys1381del)" "" "0000790750" "00007761" "70" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62Cys)" "" "0000790751" "00007761" "70" "6379" "0" "6379" "0" "c.6379G>T" "r.(?)" "p.(Asp2127Tyr)" "" "0000790752" "00007761" "70" "3032" "0" "3032" "0" "c.3032G>A" "r.(?)" "p.(Gly1011Glu)" "" "0000790753" "00007761" "70" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Gly214Ser)" "" "0000790754" "00007761" "90" "0" "0" "0" "0" "c.-395_*2684{0}" "r.0" "p.0" "_1_66_" "0000790755" "00007761" "70" "4120" "0" "4120" "0" "c.4120T>C" "r.(?)" "p.(Cys1374Arg)" "" "0000790756" "00007761" "70" "1745" "0" "1745" "0" "c.1745G>A" "r.(?)" "p.(Cys582Tyr)" "" "0000790757" "00007761" "70" "2369" "0" "2369" "0" "c.2369G>A" "r.(?)" "p.(Cys790Tyr)" "" "0000790758" "00007761" "70" "2741" "0" "2741" "0" "c.2741G>T" "r.(?)" "p.(Cys914Phe)" "" "0000790759" "00007761" "70" "5800" "0" "5800" "0" "c.5800T>C" "r.(?)" "p.(Cys1934Arg)" "" "0000790760" "00007761" "70" "4864" "0" "4864" "0" "c.4864T>C" "r.(?)" "p.(Cys1622Arg)" "" "0000790761" "00007761" "90" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62Cys)" "" "0000790762" "00007761" "70" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Gly214Asp)" "" "0000790763" "00007761" "90" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000790764" "00007761" "70" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954Cys)" "" "0000790765" "00007761" "70" "3544" "0" "3544" "0" "c.3544T>C" "r.(?)" "p.(Cys1182Arg)" "" "0000790766" "00007761" "90" "5788" "5" "5788" "5" "c.5788+5G>A" "r.spl?" "p.?" "" "0000790767" "00007761" "90" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Gly214Ser)" "" "0000790768" "00007761" "90" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "0000790769" "00007761" "70" "6050" "0" "6050" "0" "c.6050G>A" "r.(?)" "p.(Cys2017Tyr)" "" "0000790770" "00007761" "70" "3545" "0" "3545" "0" "c.3545G>T" "r.(?)" "p.(Cys1182Phe)" "" "0000790771" "00007761" "70" "1868" "0" "1868" "0" "c.1868G>T" "r.(?)" "p.(Cys623Phe)" "" "0000790772" "00007761" "70" "2872" "0" "2872" "0" "c.2872T>A" "r.(?)" "p.(Cys958Ser)" "" "0000790773" "00007761" "90" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62Cys)" "" "0000790774" "00007761" "90" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62Cys)" "" "0000790775" "00007761" "70" "4454" "0" "4454" "0" "c.4454G>A" "r.(?)" "p.(Cys1485Tyr)" "" "0000790776" "00007761" "70" "306" "0" "306" "0" "c.306C>G" "r.(?)" "p.(Cys102Trp)" "" "0000790777" "00007761" "70" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000790778" "00007761" "70" "4096" "0" "4096" "0" "c.4096G>A" "r.(?)" "p.(Glu1366Lys)" "" "0000790780" "00007761" "70" "5076" "0" "5078" "0" "c.5076_5078del" "r.(?)" "p.(Arg1692del)" "" "0000790781" "00007761" "70" "2659" "0" "2659" "0" "c.2659T>C" "r.(?)" "p.(Cys887Arg)" "" "0000790782" "00007761" "70" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Arg565*)" "" "0000790783" "00007761" "70" "3997" "0" "3997" "0" "c.3997T>C" "r.(?)" "p.(Cys1333Arg)" "" "0000790784" "00007761" "70" "3229" "0" "3229" "0" "c.3229T>C" "r.(?)" "p.(Ser1077Pro)" "" "0000790785" "00007761" "70" "2861" "0" "2861" "0" "c.2861G>C" "r.(?)" "p.(Arg954Pro)" "" "0000790786" "00007761" "90" "3217" "0" "3217" "0" "c.3217G>A" "r.(?)" "p.(Glu1073Lys)" "" "0000790787" "00007761" "70" "3244" "0" "3244" "0" "c.3244G>T" "r.(?)" "p.(Gly1082Cys)" "" "0000790788" "00007761" "70" "5627" "0" "5627" "0" "c.5627G>A" "r.(?)" "p.(Cys1876Tyr)" "" "0000790789" "00007761" "70" "1891" "0" "1891" "0" "c.1891A>C" "r.(?)" "p.(Thr631Pro)" "" "0000790790" "00007761" "70" "1380" "0" "1380" "0" "c.1380T>G" "r.(?)" "p.(Cys460Trp)" "" "0000790791" "00007761" "70" "2810" "0" "2810" "0" "c.2810G>A" "r.(?)" "p.(Cys937Tyr)" "" "0000790792" "00007761" "90" "5788" "5" "5788" "5" "c.5788+5G>A" "r.spl?" "p.?" "" "0000790793" "00007761" "70" "407" "0" "407" "0" "c.407G>T" "r.(?)" "p.(Cys136Phe)" "" "0000790794" "00007761" "70" "6322" "0" "6322" "0" "c.6322C>T" "r.(?)" "p.(Arg2108Cys)" "" "0000790795" "00007761" "90" "8264" "0" "8264" "0" "c.8264delG" "r.(?)" "p.(Ser2755Ilefs*24)" "" "0000790796" "00007761" "70" "2432" "0" "2432" "0" "c.2432G>A" "r.(?)" "p.(Cys811Tyr)" "" "0000790797" "00007761" "90" "4096" "0" "4096" "0" "c.4096G>A" "r.(?)" "p.(Glu1366Lys)" "" "0000790798" "00007761" "70" "4588" "0" "4588" "0" "c.4588C>T" "r.(?)" "p.(Arg1530Cys)" "" "0000790799" "00007761" "70" "3921" "0" "3921" "0" "c.3921T>G" "r.(?)" "p.(Cys1307Trp)" "" "0000790800" "00007761" "70" "4096" "0" "4096" "0" "c.4096G>A" "r.(?)" "p.(Glu1366Lys)" "" "0000790801" "00007761" "90" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62Cys)" "" "0000790802" "00007761" "70" "1774" "0" "1774" "0" "c.1774G>T" "r.(?)" "p.(Gly592Cys)" "" "0000790803" "00007761" "90" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "0000790805" "00007761" "90" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000790806" "00007761" "70" "1670" "0" "1670" "0" "c.1670G>A" "r.(?)" "p.(Cys557Tyr)" "" "0000790808" "00007761" "70" "7240" "0" "7240" "0" "c.7240C>T" "r.(?)" "p.(Arg2414*)" "" "0000790810" "00007761" "70" "305" "0" "305" "0" "c.305G>T" "r.(?)" "p.(Cys102Phe)" "" "0000790811" "00007761" "70" "2687" "0" "2687" "0" "c.2687G>A" "r.(?)" "p.(Cys896Tyr)" "" "0000790812" "00007761" "70" "5741" "0" "5741" "0" "c.5741G>A" "r.(?)" "p.(Cys1914Tyr)" "" "0000790813" "00007761" "70" "1915" "0" "1915" "0" "c.1915T>C" "r.(?)" "p.(Cys639Arg)" "" "0000790814" "00007761" "70" "1709" "0" "1709" "0" "c.1709G>C" "r.(?)" "p.(Cys570Ser)" "" "0000790815" "00007761" "70" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "0000790816" "00007761" "70" "3380" "0" "3380" "0" "c.3380G>T" "r.(?)" "p.(Gly1127Val)" "" "0000790817" "00007761" "70" "6354" "0" "6354" "0" "c.6354C>T" "r.(=)" "p.(=)" "" "0000790818" "00007761" "70" "1426" "0" "1426" "0" "c.1426T>C" "r.(?)" "p.(Cys476Arg)" "" "0000790819" "00007761" "90" "3244" "0" "3244" "0" "c.3244G>T" "r.(?)" "p.(Gly1082Cys)" "" "0000790820" "00007761" "70" "1948" "0" "1948" "0" "c.1948C>T" "r.(?)" "p.(Arg650Cys)" "" "0000790821" "00007761" "70" "5885" "0" "5895" "0" "c.5885_5895del" "r.(?)" "p.(Tyr1962Serfs*11)" "" "0000790822" "00007761" "70" "3037" "0" "3037" "0" "c.3037G>A" "r.(?)" "p.(Gly1013Arg)" "" "0000790823" "00007761" "70" "2447" "0" "2447" "0" "c.2447G>C" "r.(?)" "p.(Cys816Ser)" "" "0000790824" "00007761" "70" "434" "0" "434" "0" "c.434G>A" "r.(?)" "p.(Cys145Tyr)" "" "0000790825" "00007761" "70" "4211" "0" "4337" "0" "c.(4210+1_4211-1)_(4336+1_4337-1)dup" "r.(?)" "p.(Leu1405_Asp1446dup)" "34i_35i" "0000790826" "00007761" "70" "3725" "0" "3725" "0" "c.3725G>A" "r.(?)" "p.(Cys1242Tyr)" "" "0000790827" "00007761" "70" "1463" "0" "1463" "0" "c.1463G>A" "r.(?)" "p.(Cys488Tyr)" "" "0000790828" "00007761" "70" "5782" "0" "5782" "0" "c.5782T>C" "r.(?)" "p.(Cys1928Arg)" "" "0000790829" "00007761" "70" "2810" "0" "2810" "0" "c.2810G>A" "r.(?)" "p.(Cys937Tyr)" "" "0000790830" "00007761" "70" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "0000790831" "00007761" "70" "5504" "0" "5504" "0" "c.5504G>A" "r.(?)" "p.(Cys1835Tyr)" "" "0000790832" "00007761" "70" "1715" "0" "1715" "0" "c.1715A>C" "r.(?)" "p.(Asp572Ala)" "" "0000790833" "00007761" "70" "3921" "0" "3926" "0" "c.3921_3926delinsCTCATTTTTTGCCGG" "r.(?)" "p.(Asp1308_Met1309delinsSerPhePheAlaGly)" "" "0000790834" "00007761" "70" "4538" "0" "4538" "0" "c.4538G>C" "r.(?)" "p.(Cys1513Ser)" "" "0000790835" "00007761" "70" "1846" "0" "1846" "0" "c.1846G>A" "r.(?)" "p.(Glu616Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 324 "{{screeningid}}" "{{variantid}}" "0000002942" "0000021425" "0000002943" "0000021426" "0000003963" "0000022842" "0000035804" "0000062929" "0000035805" "0000062930" "0000035806" "0000062931" "0000035807" "0000062932" "0000035808" "0000062933" "0000035809" "0000062934" "0000035810" "0000062935" "0000035811" "0000062936" "0000035812" "0000062937" "0000035813" "0000062938" "0000035814" "0000062939" "0000035815" "0000062940" "0000035816" "0000062941" "0000035817" "0000062942" "0000035818" "0000062943" "0000035819" "0000062944" "0000035820" "0000062945" "0000035821" "0000062946" "0000035822" "0000062947" "0000035823" "0000062948" "0000035824" "0000062949" "0000035825" "0000062950" "0000035826" "0000062951" "0000035827" "0000062952" "0000035828" "0000062953" "0000035829" "0000062954" "0000035830" "0000062955" "0000035831" "0000062956" "0000035832" "0000062957" "0000035833" "0000062958" "0000035834" "0000062959" "0000035835" "0000062960" "0000035836" "0000062961" "0000035837" "0000062962" "0000035838" "0000062963" "0000035839" "0000062964" "0000035840" "0000062965" "0000035841" "0000062966" "0000035842" "0000062967" "0000035843" "0000062968" "0000035844" "0000062969" "0000035845" "0000062970" "0000035846" "0000062971" "0000035847" "0000062972" "0000035848" "0000062973" "0000035849" "0000062974" "0000035850" "0000062975" "0000035851" "0000062976" "0000035852" "0000062977" "0000035853" "0000062978" "0000035854" "0000062979" "0000035855" "0000062980" "0000035856" "0000062981" "0000035857" "0000062982" "0000035858" "0000062983" "0000035859" "0000062984" "0000035860" "0000062985" "0000035861" "0000062986" "0000035862" "0000062987" "0000035863" "0000062988" "0000035864" "0000062989" "0000035865" "0000062990" "0000035866" "0000062991" "0000035867" "0000062992" "0000035868" "0000062993" "0000035869" "0000062994" "0000035870" "0000062995" "0000050441" "0000079421" "0000053009" "0000082941" "0000053010" "0000082943" "0000053011" "0000082944" "0000053012" "0000082945" "0000053013" "0000082946" "0000053016" "0000082948" "0000081150" "0000130236" "0000100616" "0000162916" "0000134891" "0000225085" "0000152670" "0000351494" "0000152874" "0000351713" "0000165561" "0000369285" "0000165572" "0000369297" "0000181884" "0000405589" "0000181886" "0000405592" "0000182169" "0000406046" "0000208949" "0000438993" "0000209011" "0000439091" "0000230921" "0000472616" "0000230926" "0000472621" "0000235432" "0000478185" "0000240271" "0000484301" "0000249281" "0000578029" "0000270936" "0000620308" "0000270936" "0000620309" "0000270937" "0000620310" "0000275219" "0000629180" "0000290518" "0000647200" "0000292400" "0000649089" "0000292401" "0000649090" "0000292402" "0000649091" "0000292403" "0000649092" "0000292404" "0000649093" "0000292405" "0000649094" "0000292406" "0000649095" "0000292407" "0000649096" "0000292408" "0000649097" "0000292409" "0000649098" "0000292410" "0000649099" "0000292411" "0000649100" "0000292412" "0000649101" "0000292413" "0000649102" "0000292414" "0000649103" "0000292415" "0000649104" "0000292416" "0000649105" "0000292417" "0000649106" "0000292418" "0000649107" "0000292419" "0000649108" "0000292420" "0000649109" "0000292421" "0000649110" "0000292422" "0000649111" "0000292423" "0000649112" "0000292424" "0000649113" "0000292425" "0000649114" "0000292426" "0000649115" "0000292427" "0000649116" "0000292428" "0000649117" "0000296320" "0000653009" "0000296321" "0000653010" "0000296436" "0000653125" "0000296437" "0000653126" "0000296438" "0000653127" "0000296439" "0000653128" "0000296440" "0000653129" "0000296441" "0000653130" "0000297175" "0000659801" "0000297176" "0000659802" "0000297177" "0000659803" "0000297179" "0000659805" "0000297181" "0000659806" "0000297183" "0000659807" "0000297184" "0000659808" "0000297185" "0000659809" "0000297186" "0000659810" "0000297187" "0000659811" "0000297188" "0000659812" "0000297189" "0000659813" "0000297307" "0000659931" "0000297419" "0000660047" "0000297419" "0000660048" "0000297420" "0000660049" "0000297421" "0000660050" "0000297423" "0000660051" "0000297424" "0000660052" "0000297425" "0000660053" "0000297426" "0000660054" "0000297427" "0000660055" "0000297428" "0000660056" "0000297786" "0000660449" "0000297836" "0000701790" "0000304432" "0000667875" "0000304433" "0000667876" "0000304434" "0000667877" "0000304435" "0000667878" "0000304436" "0000667879" "0000304437" "0000667880" "0000304438" "0000667881" "0000304439" "0000667882" "0000304440" "0000667883" "0000304441" "0000667884" "0000304442" "0000667885" "0000304443" "0000667886" "0000304444" "0000667887" "0000304445" "0000667888" "0000304446" "0000667889" "0000304447" "0000667890" "0000304448" "0000667891" "0000304449" "0000667892" "0000304450" "0000667893" "0000305597" "0000669285" "0000305598" "0000669286" "0000305599" "0000669287" "0000307298" "0000673900" "0000307300" "0000673901" "0000307301" "0000673902" "0000309089" "0000683552" "0000325476" "0000708485" "0000325477" "0000708486" "0000326601" "0000710186" "0000327425" "0000711131" "0000329604" "0000713952" "0000332652" "0000729934" "0000332653" "0000729935" "0000332654" "0000729936" "0000332655" "0000729937" "0000332656" "0000729938" "0000360727" "0000760808" "0000360824" "0000760928" "0000364573" "0000765438" "0000364590" "0000765455" "0000364612" "0000765477" "0000373637" "0000783785" "0000374012" "0000784699" "0000377667" "0000790081" "0000377669" "0000790083" "0000377864" "0000790293" "0000377865" "0000790294" "0000377866" "0000790295" "0000377867" "0000790296" "0000377868" "0000790297" "0000377869" "0000790298" "0000377874" "0000790303" "0000377876" "0000790305" "0000377877" "0000790306" "0000377878" "0000790307" "0000377879" "0000790308" "0000377881" "0000790309" "0000377949" "0000790387" "0000378005" "0000790664" "0000378006" "0000790665" "0000378007" "0000790666" "0000378008" "0000790667" "0000378009" "0000790668" "0000378010" "0000790669" "0000378011" "0000790670" "0000378012" "0000790671" "0000378013" "0000790672" "0000378014" "0000790673" "0000378032" "0000790679" "0000378033" "0000790692" "0000378034" "0000790693" "0000378040" "0000790706" "0000378042" "0000790707" "0000378043" "0000790708" "0000378045" "0000790709" "0000378046" "0000790711" "0000378047" "0000790714" "0000378049" "0000790715" "0000378050" "0000790717" "0000378077" "0000790747" "0000378078" "0000790748" "0000378079" "0000790750" "0000378080" "0000790751" "0000378081" "0000790752" "0000378082" "0000790753" "0000378083" "0000790754" "0000378084" "0000790755" "0000378085" "0000790756" "0000378086" "0000790757" "0000378087" "0000790758" "0000378088" "0000790759" "0000378089" "0000790760" "0000378090" "0000790761" "0000378091" "0000790762" "0000378092" "0000790763" "0000378093" "0000790764" "0000378094" "0000790765" "0000378095" "0000790766" "0000378096" "0000790767" "0000378097" "0000790768" "0000378098" "0000790769" "0000378099" "0000790770" "0000378100" "0000790771" "0000378101" "0000790772" "0000378102" "0000790773" "0000378103" "0000790774" "0000378104" "0000790775" "0000378105" "0000790776" "0000378106" "0000790777" "0000378107" "0000790778" "0000378108" "0000790780" "0000378109" "0000790781" "0000378110" "0000790782" "0000378111" "0000790783" "0000378112" "0000790784" "0000378113" "0000790785" "0000378114" "0000790786" "0000378115" "0000790787" "0000378116" "0000790788" "0000378117" "0000790789" "0000378118" "0000790790" "0000378119" "0000790791" "0000378120" "0000790792" "0000378121" "0000790793" "0000378122" "0000790794" "0000378123" "0000790795" "0000378124" "0000790796" "0000378125" "0000790797" "0000378126" "0000790798" "0000378127" "0000790799" "0000378128" "0000790800" "0000378129" "0000790801" "0000378130" "0000790802" "0000378131" "0000790803" "0000378133" "0000790805" "0000378134" "0000790806" "0000378136" "0000790808" "0000378138" "0000790810" "0000378139" "0000790811" "0000378140" "0000790812" "0000378141" "0000790813" "0000378142" 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