### LOVD-version 3000-30b ### 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" "NC_000015.9" "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" "" "FBN1 variants classified by the Clinical Genome Resource\'s FBN1 variant curation expert panel." "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2025-01-28 16:30:08" "00006" "2025-09-23 14:50:41" ## 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 = 20 "{{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)" "AD" "184900" "" "" "" "00006" "2013-05-07 07:36:09" "00006" "2021-12-10 21:51:32" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00236" "ACMID" "dysplasia, acromicric (ACMID)" "AD" "102370" "" "" "" "00006" "2013-10-09 21:31:37" "00006" "2021-12-10 21:51:32" "00237" "ECTOL1" "ectopia lentis, type 1 (ECTOL-1)" "AD" "129600" "" "" "" "00006" "2013-10-09 21:32:43" "00006" "2021-12-10 21:51:32" "00238" "GPHYSD2" "dysplasia, geleophysic, type 2 (GPHYSD-2)" "AD" "614185" "" "" "" "00006" "2013-10-09 21:33:58" "00006" "2021-12-10 21:51:32" "00239" "MFS" "Marfan syndrome (MFS)" "AD" "154700" "" "autosomal dominant" "" "00006" "2013-10-09 21:34:54" "00006" "2021-12-10 21:51:32" "00240" "MASS" "MASS syndrome (MASS)" "AD" "604308" "" "" "" "00006" "2013-10-09 21:35:58" "00006" "2021-12-10 21:51:32" "00241" "WMS2" "Weill-Marchesani syndrome, type 2 (WMS-2)" "AD" "608328" "" "" "" "00006" "2013-10-09 21:37:37" "00006" "2021-12-10 21:51:32" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "04184" "stature, short" "stature, short" "" "" "" "" "" "00006" "2015-02-09 15:44:22" "00006" "2015-02-09 15:45:17" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05165" "CCTRCT" "cataract, congenital (CCTRCT)" "" "" "" "" "" "00006" "2016-05-15 20:37:47" "" "" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05321" "MYP2" "myopia, autosomal dominant, type 2 (MYP-2)" "" "160700" "" "" "" "00006" "2017-09-01 15:05:47" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05911" "MFLS" "lipodystrophy, Marfan syndrome (MFLS)" "AD" "616914" "" "" "" "00006" "2021-03-23 08:35:25" "00006" "2021-12-10 21:51:32" "06887" "dysplasia, bone" "dysplasia, bone" "" "" "" "" "" "00006" "2021-12-27 10:53:47" "" "" ## 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 = 697 "{{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" "" ">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" "00319369" "" "" "" "1" "" "01233" "{PMID:Overwater 2018:29907982}" "In this patient, a variant of uncertain significance has been identified also in the FBN1 gene.The technique used was the custom NGS Gene panel." "" "" "Netherlands" "" "0" "" "" "" "Pat75" "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" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat10" "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" "{PMID:Zhao 2021:34598112}" "" "M" "yes" "China" "30y-40y" "0" "" "" "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" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "F" "yes" "China" "" "0" "" "" "" "EENT001" "00376464" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "China" "" "0" "" "" "" "EENT002" "00376659" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "China" "" "0" "" "" "" "EENT003" "00376660" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT004" "00376661" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "China" "" "0" "" "" "" "EENT005" "00376662" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT006" "00376663" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "F" "" "China" "" "0" "" "" "" "EENT007" "00376664" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "China" "" "0" "" "" "" "EENT008" "00376665" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT009" "00376666" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "F" "" "China" "" "0" "" "" "" "EENT0010" "00376667" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0020" "00376668" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0011" "00376669" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0012" "00376670" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0013" "00376671" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0014" "00376672" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "F" "" "China" "" "0" "" "" "" "EENT0015" "00376673" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0016" "00376674" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "F" "" "China" "" "0" "" "" "" "EENT0017" "00376675" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0019" "00376743" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "China" "" "0" "" "" "" "EENT0018" "00376799" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0021" "00376800" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "F" "" "China" "" "0" "" "" "" "EENT0022" "00376801" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0023" "00376802" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0024" "00376803" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "F" "" "China" "" "0" "" "" "" "EENT0025" "00376804" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0026" "00376805" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0027" "00376806" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0028" "00376807" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "F" "" "China" "" "0" "" "" "" "EENT0029" "00376808" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0030" "00376809" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0031" "00376827" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "China" "" "0" "" "" "" "EENT0032" "00376829" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0033" "00376830" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0034" "00376837" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "F" "" "China" "" "0" "" "" "" "EENT0035" "00376838" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "F" "" "China" "" "0" "" "" "" "EENT0036" "00376840" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "F" "" "China" "" "0" "" "" "" "EENT0037" "00376841" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0038" "00376842" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0039" "00376844" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0040" "00376845" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0041" "00376872" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0042" "00376873" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0043" "00376874" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "F" "" "China" "" "0" "" "" "" "EENT0044" "00376875" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "F" "" "China" "" "0" "" "" "" "EENT0045" "00376876" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "F" "" "China" "" "0" "" "" "" "EENT0046" "00376877" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "China" "" "0" "" "" "" "EENT0047" "00376878" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0048" "00376879" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "F" "" "China" "" "0" "" "" "" "EENT0049" "00376880" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0050" "00376881" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "F" "" "China" "" "0" "" "" "" "EENT0051" "00376882" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "China" "" "0" "" "" "" "EENT0052" "00376883" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "F" "" "China" "" "0" "" "" "" "EENT0053" "00376884" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "-" "" "China" "" "0" "" "" "" "EENT0054" "00376885" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "F" "" "China" "" "0" "" "" "" "EENT0055" "00376886" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "China" "" "0" "" "" "" "EENT0056" "00376887" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "F" "" "China" "" "0" "" "" "" "EENT0057" "00376888" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0058" "00376889" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "F" "" "China" "" "0" "" "" "" "EENT0059" "00376890" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "M" "" "China" "" "0" "" "" "" "EENT0060" "00376891" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "F" "" "China" "" "0" "" "" "" "EENT0061" "00376892" "" "" "" "1" "" "04101" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "China" "" "0" "" "" "" 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"00398139" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat84" "00398140" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat85" "00398141" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat86" "00398142" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat87" "00398143" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat88" "00398144" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat89" "00398145" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat90" "00398146" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat91" "00398147" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat92" "00398148" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat93" "00398149" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat94" "00401660" "" "" "" "3" "" "00006" "{PMID:Sheng 2015:26040324}" "2-generation family, affected mother/son/daughter" "F" "" "China" "" "0" "" "" "Hui" "FamXLH01PatII2" "00411915" "" "" "" "1" "" "01233" "" "" "M" "" "Tanzania" "" "0" "" "" "" "" "00411990" "" "" "" "1" "" "01233" "" "" "" "" "" "" "0" "" "" "" "" "00414439" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP106" "00414447" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP114" "00417571" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00419502" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "7004" "00419503" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9057" "00419504" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9091" "00419505" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9125" "00419506" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9150" "00419507" "" "" "" "2" "" "02300" "{PMID:Marinakis 2021:34008892}" "2-generation family, patient and similarly affected father" "M" "" "Greece" "" "0" "" "" "" "20152" "00419613" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "8099" "00419614" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "8117" "00419615" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9089" "00419616" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9038" "00419617" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9096" "00419618" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9097" "00433095" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "F" "" "Canada" "" "0" "" "" "Native American" "Pat71,1" "00434074" "" "" "" "1" "" "00006" "{PMID:Li 2016:27307692}" "" "" "" "China" "" "0" "" "" "" "Pat24" "00435043" "" "" "" "1" "" "03256" "{PMID:Topyıldız 2023:37114700}, {DOI:Topyıldız 2023:10.24953/turkjped.2022.637}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00444533" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat1" "00444534" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat2" "00444535" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat3" "00444536" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat4" "00444537" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat5" "00444538" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat6" "00444539" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat7" "00444540" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat8" "00444541" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat9" "00444542" "" "" "" "2" "" "00006" "{PMID:Yoon 2023:37558401}" "family 2 affected, 1 unaffected" "" "" "Korea" "" "0" "" "" "" "Pat10" "00444543" "" "" "" "5" "" "00006" "{PMID:Yoon 2023:37558401}" "family 5 affected, 3 unaffected" "" "" "Korea" "" "0" "" "" "" "Pat11" "00444544" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat12" "00444545" "" "" "" "2" "" "00006" "{PMID:Yoon 2023:37558401}" "family 2 affected, no unaffected" "" "" "Korea" "" "0" "" "" "" "Pat13" "00444546" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat14" "00444547" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat15" "00444548" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat16" "00444549" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat17" "00444550" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat18" "00444551" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat19" "00444552" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat20" "00444553" "" "" "" "2" "" "00006" "{PMID:Yoon 2023:37558401}" "family 2 affected, no unaffected" "" "" "Korea" "" "0" "" "" "" "Pat21" "00444554" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat22" "00444555" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat23" "00444556" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat24" "00444557" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "family, 1 affected, 1 unaffected" "" "" "Korea" "" "0" "" "" "" "Pat25" "00444558" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat26" "00444559" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat27" "00444560" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat28" "00444561" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat29" "00444562" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat30" "00444563" "" "" "" "2" "" "00006" "{PMID:Yoon 2023:37558401}" "family 2 affected, no unaffected" "" "" "Korea" "" "0" "" "" "" "Pat31" "00444564" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat32" "00444565" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat33" "00444566" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat34" "00444567" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat35" "00444568" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat36" "00444569" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat37" "00444570" "" "" "" "3" "" "00006" "{PMID:Yoon 2023:37558401}" "family 3 affected, 2 unaffected" "" "" "Korea" "" "0" "" "" "" "Pat38" "00444571" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat39" "00444572" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat40" "00444573" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat41" "00444574" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat42" "00444575" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat43" "00444576" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat44" "00444577" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat45" "00444578" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat46" "00444579" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat47" "00444580" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat48" "00444581" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat49" "00444582" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat50" "00444583" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat51" "00444584" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat52" "00444585" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat53" "00444586" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat54" "00444587" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat55" "00444588" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat56" "00444589" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat57" "00444590" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat58" "00444591" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat59" "00444592" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat60" "00444593" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat61" "00444594" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat62" "00444595" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat63" "00444596" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat64" "00444597" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat65" "00444598" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat66" "00444599" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat67" "00444600" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat68" "00444601" "" "" "" "1" "" "00006" "{PMID:Yoon 2023:37558401}" "patient" "" "" "Korea" "" "0" "" "" "" "Pat69" "00444873" "" "" "" "2" "" "00006" "{PMID:Fan 2020:32883240}" "2-generation family, affected father/sib" "" "" "China" "" "0" "" "" "" "Fam13" "00446466" "" "" "" "2" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, affected mother/daughter" "F" "" "China" "" "0" "" "" "" "Fam62Pat170" "00446467" "" "" "00446466" "1" "" "00006" "{PMID:Liu 2023:37337769}" "daughter" "F" "" "China" "" "0" "" "" "" "Fam62Pat171" "00446523" "" "" "" "3" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, affected father/daughter" "F" "" "China" "" "0" "" "" "" "Fam128Pat340" "00446524" "" "" "00446523" "1" "" "00006" "{PMID:Liu 2023:37337769}" "father" "M" "" "China" "" "0" "" "" "" "Fam128Pat341" "00446525" "" "" "00446523" "1" "" "00006" "{PMID:Liu 2023:37337769}" "mother" "F" "" "China" "" "0" "" "" "" "Fam128Pat342" "00448530" "" "" "" "1" "" "04670" "" "" "F" "no" "China" "" "" "" "" "Chinese" "CEL-01" "00448531" "" "" "" "1" "" "04670" "" "" "M" "no" "China" "" "" "" "" "Chinese" "CEL-02" "00448532" "" "" "" "1" "" "04670" "" "" "F" "yes" "China" "" "" "" "" "Chinese" "CEL-03" "00448535" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-04" "00448537" "" "" "" "1" "" "04670" "" "" "M" "" "" "" "" "" "" "" "CEL-05" "00448553" "" "" "" "3" "" "04670" "" "" "M" "" "" "" "" "" "" "" "CEL-06" "00448554" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-07" "00448555" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-08" "00448556" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-09" "00448557" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-10" "00448558" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-11" "00448559" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-12" "00448560" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-13" "00448561" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-14" "00448562" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-15" "00448563" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-16" "00448564" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-17" "00448565" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-18" "00448566" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-19" "00448567" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-20" "00448568" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-21" "00448569" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-22" "00448570" "" "" "" "3" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-23" "00448571" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-24" "00448572" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-25" "00448573" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-26" "00448574" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-27" "00448575" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-28" "00448576" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-29" "00448577" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-30" "00448578" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-31" "00448579" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-32" "00448580" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-33" "00448581" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-34" "00448582" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-35" "00448583" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-36" "00448584" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-37" "00448585" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-38" "00448586" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-39" "00448587" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-40" "00448588" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-41" "00448589" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-42" "00448591" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-44" "00448592" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-45" "00448593" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-46" "00448594" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-47" "00448595" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-48" "00448596" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-49" "00448597" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-50" "00448598" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-51" "00448599" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-52" "00448600" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-53" "00448601" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-54" "00448602" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-55" "00448603" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-56" "00448604" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-57" "00448605" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-58" "00448606" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-59" "00448607" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-60" "00448608" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-61" "00448609" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-62" "00448610" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-63" "00448611" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-64" "00448612" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-65" "00448613" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-66" "00448614" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-67" "00448615" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-68" "00448616" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-69" "00448617" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-70" "00448618" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-71" "00448619" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-72" "00448620" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-73" "00448621" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-74" "00448622" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-75" "00448623" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-76" "00448624" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-77" "00448626" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-79" "00448627" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-80" "00448628" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-81" "00448629" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-82" "00448630" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-83" "00448631" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-84" "00448632" "" "" "" "3" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-85" "00448633" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-86" "00448634" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-87" "00448635" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-88" "00448636" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-89" "00448637" "" "" "" "3" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-90" "00448638" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-91" "00448639" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-92" "00448640" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-93" "00448641" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-94" "00448642" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-95" "00448643" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-96" "00448645" "" "" "" "3" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-98" "00448646" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-99" "00448647" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-100" "00448648" "" "" "" "3" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-101" "00448649" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-102" "00448650" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-103" "00448651" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-104" "00448652" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-105" "00448653" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-106" "00448654" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-107" "00448655" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-108" "00448656" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-109" "00448657" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-110" "00448658" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-111" "00448659" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-112" "00448660" "" "" "" "3" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-113" "00448661" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-114" "00448662" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-115" "00448663" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-116" "00448664" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-117" "00448665" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-118" "00448666" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-119" "00448667" "" "" "" "3" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-120" "00448674" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-121" "00448675" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-122" "00448676" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-123" "00448677" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-124" "00448678" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-125" "00448679" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-126" "00448680" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-127" "00448681" "" "" "" "3" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-128" "00448682" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-129" "00448683" "" "" "" "4" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-130" "00448684" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-131" "00448685" "" "" "" "4" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-132" "00448686" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-133" "00448694" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-134" "00448695" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-135" "00448696" "" "" "" "5" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-136" "00448697" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-137" "00448698" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-138" "00448699" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-139" "00448700" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-140" "00448701" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-141" "00448702" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-142" "00448703" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-143" "00448704" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-144" "00448705" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-145" "00448707" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-147" "00448709" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-148" "00448710" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-149" "00448711" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-150" "00448712" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-151" "00448713" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-152" "00448714" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-153" "00448715" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-154" "00448716" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-155" "00448717" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-156" "00448718" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-157" "00448719" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-158" "00448720" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-159" "00448721" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-160" "00448722" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-161" "00448723" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-162" "00448724" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-163" "00448725" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-164" "00448726" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-165" "00448727" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-166" "00448728" "" "" "" "3" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-167" "00448729" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-168" "00448730" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-169" "00448731" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-170" "00448733" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-172" "00448734" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-173" "00448735" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-174" "00448736" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-175" "00448737" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-176" "00448738" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-177" "00448739" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-178" "00448740" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-179" "00448741" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-180" "00448742" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-181" "00448743" "" "" "" "3" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-182" "00448744" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-183" "00448745" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-184" "00448746" "" "" "" "3" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-185" "00448747" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-186" "00448748" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-187" "00448749" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-188" "00448750" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-189" "00448751" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-190" "00448752" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-191" "00448753" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-192" "00448754" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-193" "00448755" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-194" "00448756" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-195" "00448757" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-196" "00448758" "" "" "" "3" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-197" "00448759" "" "" "" "4" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-198" "00448760" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-199" "00448761" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-200" "00448762" "" "" "" "3" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-201" "00448763" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-202" "00448764" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-203" "00448765" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-204" "00448766" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-205" "00448767" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-206" "00448768" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-207" "00448769" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-208" "00448770" "" "" "" "2" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-209" "00448772" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-211" "00448773" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-212" "00448774" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-213" "00448776" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-215" "00448777" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-216" "00448778" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-217" "00448779" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-218" "00448780" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-219" "00448781" "" "" "" "1" "" "04670" "" "" "" "" "" "" "" "" "" "" "CEL-220" "00451605" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00453735" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV894" "00458560" "" "" "" "5" "" "00006" "contact me for details" "2-generation family, 5 affected (mother, 4 children)" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "private email" "00460894" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00461036" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00466696" "" "" "" "1" "" "00006" "{PMID:Plachy 2019:30753492}" "" "M" "" "Czech Republic" "" "0" "" "" "" "Pat17" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 658 "{{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" 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"00239" "00448657" "00239" "00448658" "00239" "00448659" "00239" "00448660" "00239" "00448661" "00239" "00448662" "00239" "00448663" "00239" "00448664" "00239" "00448665" "00237" "00448666" "00239" "00448667" "00239" "00448674" "00239" "00448675" "00237" "00448676" "00239" "00448677" "00239" "00448678" "00239" "00448679" "00239" "00448680" "00239" "00448681" "00239" "00448682" "00239" "00448683" "00239" "00448684" "00239" "00448685" "00237" "00448686" "00237" "00448694" "00239" "00448695" "00239" "00448696" "00239" "00448697" "00239" "00448698" "00239" "00448699" "00239" "00448700" "00239" "00448701" "00239" "00448702" "00239" "00448703" "00239" "00448704" "00239" "00448705" "00237" "00448707" "00239" "00448709" "00239" "00448710" "00239" "00448711" "00239" "00448712" "00239" "00448713" "00239" "00448714" "00239" "00448715" "00239" "00448716" "00239" "00448717" "00239" "00448718" "00239" "00448719" "00239" "00448720" "00239" "00448721" "00239" "00448722" "00239" "00448723" "00239" "00448724" "00239" "00448725" "00237" "00448726" "00239" "00448727" "00239" "00448728" "00239" "00448729" "00237" "00448730" "00239" "00448731" "00239" "00448733" "00239" "00448734" "00239" "00448735" "00239" "00448736" "00239" "00448737" "00239" "00448738" "00239" "00448739" "00239" "00448740" "00237" "00448741" "00237" "00448742" "00239" "00448743" "00239" "00448744" "00239" "00448745" "00237" "00448746" "00239" "00448747" "00239" "00448748" "00237" "00448749" "00239" "00448750" "00239" "00448751" "00239" "00448752" "00239" "00448753" "00239" "00448754" "00237" "00448755" "00237" "00448756" "00237" "00448757" "00237" "00448758" "00239" "00448759" "00239" "00448760" "00239" "00448761" "00239" "00448762" "00237" "00448763" "00237" "00448764" "00239" "00448765" "00239" "00448766" "00237" "00448767" "00239" "00448768" "00239" "00448769" "00239" "00448770" "00239" "00448772" "00239" "00448773" "00239" "00448774" "00239" "00448776" "00239" "00448777" "00239" "00448778" "00239" "00448779" "00239" "00448780" "00239" "00448781" "00239" "00451605" "00198" "00453735" "00152" "00458560" "00239" "00460894" "00198" "00461036" "00198" "00466696" "04184" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00127, 00139, 00152, 00198, 00236, 00237, 00238, 00239, 00240, 00241, 00296, 04184, 04214, 05165, 05292, 05321, 05517, 05911, 06887 ## Count = 597 "{{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" "" "0000241886" "00198" "00319369" "01233" "-" "" "Aortic aneurysms and/or dissection," "" "" "" "" "" "" "" "" "" "" "" "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" "" "0000271873" "00237" "00376665" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000271874" "00237" "00376666" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "ectopia lentis syndrome" "suspected Marfan syndrome" "" "0000271875" "00239" "00376667" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "Marfan syndrome" "suspected Marfan syndrome" "" "0000271876" "00239" "00376667" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "Marfan syndrome" "suspected Marfan syndrome" "" "0000271877" "00239" "00376667" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "Marfan syndrome" "suspected Marfan syndrome" "" "0000271878" "00239" "00376668" "04101" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "potential Marfan syndrome" "suspected Marfan syndrome" "" "0000271879" "00239" "00376669" "04101" "Isolated (sporadic)" "" "ectopia lentis\r\nmicrospherophakia" "" "" "" "" "" "" "" "" "" "" "" "0000271880" "00237" "00376670" "04101" "Familial, autosomal dominant" "" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "" "" "0000273273" "04214" "00379400" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000278026" "00239" "00384241" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Marfan syndrome" "" "0000278072" "05321" "00384287" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "high myopia?" "" "0000278078" "00239" "00384293" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Marfan syndrome?" "" "0000278155" "00239" "00384370" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Marfan syndrome" "" "0000278186" "00239" "00384401" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Marfan syndrome?" "" "0000278207" "00239" "00384422" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Marfan syndrome?" "" "0000278216" "05165" "00384431" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Cataract" "" "0000278263" "05165" "00384478" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Congenital cataract" "" "0000278284" "05321" "00384499" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "high myopia" "" "0000279301" "04214" "00385506" "00000" "Familial, autosomal dominant" "" "" "4y" "" "" "" "" "" "" "" "bilateral ectopia lentis (n=8)" "ectopia lentis" "" "0000279312" "04214" "00385517" "00000" "Familial, autosomal dominant" "" "" "3y" "" "" "" "" "" "" "" "bilateral ectopia lentis (n=8)" "ectopia lentis" "" "0000280306" "00198" "00386500" "00006" "Unknown" "" "tall stature (neurological)" "" "" "" "" "" "" "" "" "" "" "" "0000289621" "00239" "00396460" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Marfan syndrome" "" "0000290746" "06887" "00397622" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "GPHYSD2" "geleophysic dysplasia" "" "0000290747" "06887" "00397623" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "GPHYSD2" "geleophysic dysplasia" "" "0000290748" "06887" "00397624" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "ACMICD" "acromicric dysplasia" "" "0000290749" "06887" "00397625" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "WMS2" "Weill-Marchesani syndrome" "" "0000291187" "00198" "00398077" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291188" "00198" "00398078" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291189" "00198" "00398079" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291190" "00198" "00398080" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291191" "00198" "00398081" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291192" "00198" "00398082" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291193" "00198" "00398083" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291194" "00198" "00398084" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291195" "00198" "00398085" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291196" "00198" "00398086" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291197" "00198" "00398087" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291198" "00198" "00398088" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291199" "00198" "00398089" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291200" "00198" "00398090" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291201" "00198" "00398091" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291202" "00198" "00398092" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291203" "00198" "00398093" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291204" "00198" "00398094" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291224" "00198" "00398114" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291244" "00198" "00398134" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291245" "00198" "00398135" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291246" "00198" "00398136" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291247" "00198" "00398137" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291248" "00198" "00398138" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291249" "00198" "00398139" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291250" "00198" "00398140" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291251" "00198" "00398141" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291252" "00198" "00398142" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291253" "00198" "00398143" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291254" "00198" "00398144" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291255" "00198" "00398145" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291256" "00198" "00398146" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291257" "00198" "00398147" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291258" "00198" "00398148" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291259" "00198" "00398149" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000294431" "00198" "00401660" "00006" "Unknown" "" "see paper; ...bilateral ectopia lentis, atrial septal defect, ventricular septal defect, widening tibial metaphysis with medial bowing, dolichostenomelia in digits" "" "" "" "" "" "" "" "" "XLHR;MFS" "" "" "0000306274" "00198" "00414439" "00000" "Familial, autosomal dominant" "32y" "" "" "" "" "" "" "" "" "" "Marfan Syndrome" "" "" "0000306282" "00198" "00414447" "00000" "Familial, autosomal dominant" "35y" "" "" "" "" "" "" "" "" "" "Marfan Syndrome" "" "" "0000310783" "00198" "00419502" "02300" "Isolated (sporadic)" "11y" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000310784" "00198" "00419503" "02300" "Isolated (sporadic)" "3y" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000310785" "00198" "00419504" "02300" "Isolated (sporadic)" "5y" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000310786" "00198" "00419505" "02300" "Isolated (sporadic)" "23y" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000310787" "00198" "00419506" "02300" "Isolated (sporadic)" "3y" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000310788" "00198" "00419507" "02300" "Familial, autosomal dominant" "31y" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000310894" "00198" "00419613" "02300" "Isolated (sporadic)" "26y" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000310895" "00198" "00419614" "02300" "Isolated (sporadic)" "31y" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000310896" "00198" "00419615" "02300" "Isolated (sporadic)" "30y" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000310897" "00198" "00419616" "02300" "Isolated (sporadic)" "38y" "cardiomyopathy, scoliosis, myopia" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000310898" "00198" "00419617" "02300" "Isolated (sporadic)" "34y" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000310899" "00198" "00419618" "02300" "Isolated (sporadic)" "2y" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000323621" "05292" "00433095" "00006" "Familial, autosomal recessive" "13y" "defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000324450" "00296" "00434074" "00006" "Familial, autosomal dominant" "" "unilateral nuclear cataract" "" "" "" "" "" "" "" "" "" "cataract" "" "0000325283" "00239" "00435043" "03256" "Familial" "09y" "Marfan syndrome with cardiac involvement; 6m-aortic root dilatation, mitral valve prolapse, mitral insufficiency" "" "" "" "" "" "" "" "" "" "" "" "0000333785" "00198" "00444533" "00006" "Familial, autosomal dominant" "18y" "aortic root dilation (Z 0,8); ectopia lentis; systematic score 2; no revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333786" "00198" "00444534" "00006" "Familial, autosomal dominant" "48y" "ascending aortic dissection; no ectopia lentis; systematic score 6; no revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333787" "00198" "00444535" "00006" "Familial, autosomal dominant" "59y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333788" "00198" "00444536" "00006" "Familial, autosomal dominant" "22y" "ectopia lentis" "" "" "" "" "" "" "" "" "" "" "" "0000333789" "00198" "00444537" "00006" "Familial, autosomal dominant" "22y" "aortic root dilation (Z 5,39); ectopia lentis; systematic score 11; revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333790" "00198" "00444538" "00006" "Familial, autosomal dominant" "27y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333791" "00198" "00444539" "00006" "Familial, autosomal dominant" "16y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333792" "00198" "00444540" "00006" "Familial, autosomal dominant" "64y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333793" "00198" "00444541" "00006" "Familial, autosomal dominant" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333794" "00198" "00444542" "00006" "Familial, autosomal dominant" "35y" "aortic root dilation (Z 11,01); systematic score 6; revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333795" "00198" "00444543" "00006" "Familial, autosomal dominant" "71y" "aortic root dilation (Z 4,9); systematic score 2; revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333796" "00198" "00444544" "00006" "Familial, autosomal dominant" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333797" "00198" "00444545" "00006" "Familial, autosomal dominant" "33y" "aortic root dilation (Z 21,06); ectopia lentis; systematic score 2; revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333798" "00198" "00444546" "00006" "Familial, autosomal dominant" "37y" "aortic root dilation (Z 2,59); ectopia lentis; systematic score 8; revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333799" "00198" "00444547" "00006" "Familial, autosomal dominant" "29y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333800" "00198" "00444548" "00006" "Familial, autosomal dominant" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333801" "00198" "00444549" "00006" "Familial, autosomal dominant" "29y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333802" "00198" "00444550" "00006" "Familial, autosomal dominant" "31y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333803" "00198" "00444551" "00006" "Familial, autosomal dominant" "27y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333804" "00198" "00444552" "00006" "Familial, autosomal dominant" "25y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333805" "00198" "00444553" "00006" "Familial, autosomal dominant" "12y" "aortic root dilation (Z 0,61); ectopia lentis; systematic score 7; revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333806" "00198" "00444554" "00006" "Familial, autosomal dominant" "54y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333807" "00198" "00444555" "00006" "Familial, autosomal dominant" "37y" "aortic root dilation (Z 3,24); no ectopia lentis; systematic score 8; revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333808" "00198" "00444556" "00006" "Familial, autosomal dominant" "35y" "aortic root dilation (Z 5,69); ectopia lentis; systematic score 8; revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333809" "00198" "00444557" "00006" "Familial, autosomal dominant" "58y" "aortic root dilation (Z 10,34); no ectopia lentis; systematic score 11; revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333810" "00198" "00444558" "00006" "Isolated (sporadic)" "26y" "aortic root dilation (Z 6,56); ectopia lentis; systematic score 3; revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333811" "00198" "00444559" "00006" "Familial, autosomal dominant" "59y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333812" "00198" "00444560" "00006" "Familial, autosomal dominant" "21y" "aortic root dilation (Z 5,46); no ectopia lentis; systematic score 8; revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333813" "00198" "00444561" "00006" "Familial, autosomal dominant" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333814" "00198" "00444562" "00006" "Familial, autosomal dominant" "14y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333815" "00198" "00444563" "00006" "Familial, autosomal dominant" "13y" "aortic root dilation (Z 0,5); ectopia lentis; systematic score 7; revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333816" "00198" "00444564" "00006" "Familial, autosomal dominant" "19y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333817" "00198" "00444565" "00006" "Familial, autosomal dominant" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333818" "00198" "00444566" "00006" "Familial, autosomal dominant" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333819" "00198" "00444567" "00006" "Familial, autosomal dominant" "25y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333820" "00198" "00444568" "00006" "Isolated (sporadic)" "6y" "aortic root dilation (Z 2,45); no revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333821" "00198" "00444569" "00006" "Familial, autosomal dominant" "44y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333822" "00198" "00444570" "00006" "Familial, autosomal dominant" "25y" "aortic root dilation (Z 4,1); no ectopia lentis; systematic score 7; revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333823" "00198" "00444571" "00006" "Familial, autosomal dominant" "40y" "aortic root dilation (Z 25,04); systematic score 8; revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333824" "00198" "00444572" "00006" "Isolated (sporadic)" "9y" "aortic root dilation (Z 0,76); no ectopia lentis; no revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333825" "00198" "00444573" "00006" "Familial, autosomal dominant" "29y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333826" "00198" "00444574" "00006" "Familial, autosomal dominant" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333827" "00198" "00444575" "00006" "Familial, autosomal dominant" "5y" "aortic root dilation (Z 1,69); ectopia lentis; systematic score 0; no revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333828" "00198" "00444576" "00006" "Familial, autosomal dominant" "23y" "aortic root dilation (Z 2,95); ectopia lentis; systematic score 12; revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333829" "00198" "00444577" "00006" "Familial, autosomal dominant" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333830" "00198" "00444578" "00006" "Familial, autosomal dominant" "19y" "aortic root dilation (Z 0,45); no ectopia lentis; systematic score 2; no revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333831" "00198" "00444579" "00006" "Familial, autosomal dominant" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333832" "00198" "00444580" "00006" "Familial, autosomal dominant" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333833" "00198" "00444581" "00006" "Familial, autosomal dominant" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333834" "00198" "00444582" "00006" "Familial, autosomal dominant" "58y" "aortic root dilation (Z 8,54); no ectopia lentis; systematic score 0; no revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333835" "00198" "00444583" "00006" "Familial, autosomal dominant" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333836" "00198" "00444584" "00006" "Familial, autosomal dominant" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333837" "00198" "00444585" "00006" "Familial, autosomal dominant" "11y" "aortic root dilation (Z 3,08); systematic score 1; no revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333838" "00198" "00444586" "00006" "Familial, autosomal dominant" "0y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333839" "00198" "00444587" "00006" "Familial, autosomal dominant" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333840" "00198" "00444588" "00006" "Familial, autosomal dominant" "49y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333841" "00198" "00444589" "00006" "Familial, autosomal dominant" "51y" "no revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333842" "00198" "00444590" "00006" "Familial, autosomal dominant" "24y" "aortic root dilation (Z 5,65); equivocal; systematic score 8; revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333843" "00198" "00444591" "00006" "Familial, autosomal dominant" "54y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333844" "00198" "00444592" "00006" "Familial, autosomal dominant" "29y" "aortic root dilation (Z -0,36); systematic score 8; no revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333845" "00198" "00444593" "00006" "Familial, autosomal dominant" "42y" "aortic root dilation (Z 6,55); no ectopia lentis; systematic score 2; no revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333846" "00198" "00444594" "00006" "Familial, autosomal dominant" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333847" "00198" "00444595" "00006" "Familial, autosomal dominant" "41y" "aortic root dilation (Z 6,98); no ectopia lentis; systematic score 8; revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333848" "00198" "00444596" "00006" "Familial, autosomal dominant" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333849" "00198" "00444597" "00006" "Familial, autosomal dominant" "35y" "ascending aortic dissection; no ectopia lentis; systematic score 7; revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000333850" "00198" "00444598" "00006" "Familial, autosomal dominant" "23y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333851" "00198" "00444599" "00006" "Familial, autosomal dominant" "31y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333852" "00198" "00444600" "00006" "Familial, autosomal dominant" "0y" "" "" "" "" "" "" "" "" "" "" "" "" "0000333853" "00198" "00444601" "00006" "Familial, autosomal dominant" "34y" "aortic root dilation (Z 6,34); no ectopia lentis; systematic score 9; revised Ghent criteria" "" "" "" "" "" "" "" "" "" "" "" "0000334123" "00296" "00444873" "00006" "Familial, autosomal dominant" "" "binocular, posterior polar/subcapsular" "" "" "" "" "" "" "" "" "" "cataract" "" "0000335686" "00296" "00446466" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335687" "00296" "00446467" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335736" "00296" "00446523" "00006" "Unknown" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335737" "00296" "00446524" "00006" "Unknown" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000337705" "00239" "00448530" "04670" "Isolated (sporadic)" "" "" "" "08y" "ectopia lentis(HP:0001083)" "" "" "" "" "" "" "" "" "0000337706" "00239" "00448531" "04670" "Isolated (sporadic)" "" "" "" "04y" "ectopia lentis(HP:0001083)" "" "" "" "" "" "" "" "" "0000337712" "00237" "00448532" "04670" "Familial, autosomal dominant" "" "" "" "08y" "ectopia lentis(HP:0001083)" "" "" "" "" "" "" "" "" "0000337716" "00239" "00448535" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337720" "00239" "00448537" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337727" "00237" "00448553" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337728" "00239" "00448554" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337729" "00239" "00448555" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337730" "00239" "00448556" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337731" "00239" "00448557" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337732" "00237" "00448558" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337733" "00239" "00448559" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337734" "00239" "00448560" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337735" "00239" "00448561" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337736" "00239" "00448562" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337737" "00239" "00448563" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337738" "00239" "00448564" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337739" "00239" "00448565" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337740" "00239" "00448566" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337741" "00239" "00448567" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337742" "00239" "00448568" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337743" "00239" "00448569" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337744" "00239" "00448570" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337745" "00239" "00448571" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337746" "00239" "00448572" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337747" "00239" "00448573" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337748" "00239" "00448574" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337749" "00239" "00448575" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337750" "00239" "00448576" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337751" "00239" "00448577" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337752" "00239" "00448578" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337753" "00239" "00448579" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337754" "00239" "00448580" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337755" "00239" "00448581" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337756" "00239" "00448582" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337757" "00237" "00448583" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337758" "00237" "00448584" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337759" "00239" "00448585" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337760" "00239" "00448586" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337761" "00239" "00448587" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337762" "00237" "00448588" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337763" "00239" "00448589" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337766" "00239" "00448591" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337767" "00239" "00448592" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337768" "00239" "00448593" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337769" "00239" "00448594" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337770" "00239" "00448595" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337771" "00237" "00448596" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337772" "00239" "00448597" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337773" "00237" "00448598" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337774" "00237" "00448599" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337775" "00239" "00448600" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337776" "00239" "00448601" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337777" "00239" "00448602" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337778" "00237" "00448603" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337779" "00239" "00448604" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337780" "00239" "00448605" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337781" "00237" "00448606" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337782" "00237" "00448607" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337783" "00239" "00448608" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337784" "00239" "00448609" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337785" "00237" "00448610" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337786" "00237" "00448611" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337787" "00239" "00448612" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337788" "00239" "00448613" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337789" "00239" "00448614" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337790" "00239" "00448615" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337791" "00239" "00448616" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337792" "00239" "00448617" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337793" "00237" "00448618" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337794" "00239" "00448619" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337795" "00239" "00448620" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337796" "00239" "00448621" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337797" "00239" "00448622" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337798" "00239" "00448623" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337799" "00237" "00448624" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337802" "00239" "00448626" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337803" "00239" "00448627" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337804" "00239" "00448628" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337805" "00237" "00448629" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337806" "00239" "00448630" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337807" "00239" "00448631" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337808" "00239" "00448632" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337809" "00239" "00448633" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337810" "00239" "00448634" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337811" "00237" "00448635" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337812" "00239" "00448636" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337813" "00237" "00448637" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337814" "00239" "00448638" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337816" "00237" "00448639" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337817" "00239" "00448640" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337818" "00237" "00448641" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337819" "00239" "00448642" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337820" "00239" "00448643" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337822" "00239" "00448645" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337823" "00239" "00448646" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337824" "00239" "00448647" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337825" "00239" "00448648" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337826" "00239" "00448649" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337827" "00239" "00448650" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337828" "00239" "00448651" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337829" "00239" "00448652" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337830" "00239" "00448653" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337831" "00239" "00448654" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337832" "00239" "00448655" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337833" "00239" "00448656" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337834" "00239" "00448657" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337835" "00239" "00448658" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337836" "00239" "00448659" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337837" "00239" "00448660" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337838" "00239" "00448661" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337839" "00239" "00448662" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337840" "00239" "00448663" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337841" "00239" "00448664" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337842" "00237" "00448665" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337843" "00239" "00448666" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337844" "00239" "00448667" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337850" "00239" "00448674" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337851" "00237" "00448675" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337852" "00239" "00448676" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337853" "00239" "00448677" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337854" "00239" "00448678" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337855" "00239" "00448679" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337856" "00239" "00448680" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337857" "00239" "00448681" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337858" "00239" "00448682" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337859" "00239" "00448683" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337860" "00239" "00448684" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337861" "00237" "00448685" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337862" "00237" "00448686" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337868" "00239" "00448694" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337869" "00239" "00448695" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337870" "00239" "00448696" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337871" "00239" "00448697" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337872" "00239" "00448698" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337873" "00239" "00448699" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337874" "00239" "00448700" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337875" "00239" "00448701" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337876" "00239" "00448702" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337877" "00239" "00448703" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337878" "00239" "00448704" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337879" "00237" "00448705" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337881" "00239" "00448707" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337883" "00239" "00448709" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337884" "00239" "00448710" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337885" "00239" "00448711" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337886" "00239" "00448712" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337887" "00239" "00448713" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337888" "00239" "00448714" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337889" "00239" "00448715" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337890" "00239" "00448716" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337891" "00239" "00448717" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337892" "00239" "00448718" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337893" "00239" "00448719" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337894" "00239" "00448720" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337895" "00239" "00448721" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337896" "00239" "00448722" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337897" "00239" "00448723" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337898" "00239" "00448724" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337899" "00237" "00448725" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337900" "00239" "00448726" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337901" "00239" "00448727" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337902" "00239" "00448728" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337903" "00237" "00448729" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337904" "00239" "00448730" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337905" "00239" "00448731" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337907" "00239" "00448733" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337908" "00239" "00448734" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337909" "00239" "00448735" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337910" "00239" "00448736" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337911" "00239" "00448737" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337912" "00239" "00448738" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337913" "00239" "00448739" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337914" "00237" "00448740" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337915" "00237" "00448741" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337916" "00239" "00448742" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337917" "00239" "00448743" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337918" "00239" "00448744" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337919" "00237" "00448745" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337920" "00239" "00448746" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337921" "00239" "00448746" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337922" "00239" "00448747" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337923" "00237" "00448748" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337924" "00239" "00448749" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337925" "00239" "00448750" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337926" "00239" "00448751" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337927" "00239" "00448752" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337928" "00239" "00448753" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337929" "00237" "00448754" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337930" "00237" "00448755" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337931" "00237" "00448756" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337932" "00237" "00448757" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337933" "00239" "00448758" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337934" "00239" "00448759" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337935" "00239" "00448760" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337936" "00239" "00448761" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337937" "00237" "00448762" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337938" "00237" "00448763" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337939" "00239" "00448764" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337940" "00239" "00448765" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337941" "00237" "00448766" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337942" "00239" "00448767" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337943" "00239" "00448768" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337944" "00239" "00448768" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337945" "00239" "00448769" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337946" "00239" "00448770" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337948" "00239" "00448772" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337949" "00239" "00448773" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337950" "00239" "00448774" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337952" "00239" "00448776" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337953" "00239" "00448777" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337954" "00239" "00448778" "04670" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337955" "00239" "00448779" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337956" "00239" "00448780" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337957" "00239" "00448781" "04670" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000340282" "00198" "00451605" "03544" "Isolated (sporadic)" "" "HP:0000494, HP:0000750, HP:0000774, HP:0001250, HP_0001252, HP:0001263, HP:0001270, HP:0001763, HP:0002616, HP:0007663, HP:0011003, HP:0100807, HP:0000006" "" "" "" "" "" "" "" "" "MFS" "neurodevelopmental delay" "" "0000342392" "00152" "00453735" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000346991" "00239" "00458560" "00006" "Familial, autosomal dominant" "" "mitral valve prolapse (HP:0001634); more details available upon request" "" "" "" "" "" "" "" "" "MFS" "Marfan syndrome" "" "0000352059" "04184" "00466696" "00006" "Unknown" "12y" "see paper; ..., growth hormone deficiency; height SDS-2.53; birth weight SDS-1.6, length SDS-0.65" "" "" "" "" "" "" "" "" "" "short stature" "" ## Screenings ## Do not remove or alter this header ## ## Count = 697 "{{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" "0000320550" "00319369" "1" "01233" "01233" "2018-04-07 23:30:34" "00085" "2020-02-17 13:02:27" "SEQ-NG" "DNA" "" "" "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" "" "" "0000377870" "00376665" "1" "04101" "04101" "2021-06-25 04:22:24" "" "" "SEQ-NG-I" "DNA" "" "" "0000377871" "00376666" "1" "04101" "04101" "2021-06-25 04:25:18" "" "" "SEQ-NG-I" "DNA" "" "" "0000377872" "00376667" "1" "04101" "04101" "2021-06-25 04:29:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000377873" "00376668" "1" "04101" "04101" "2021-06-25 04:40:34" "" "" "SEQ-ON" "DNA" "" "" "0000377874" "00376669" "1" "04101" "04101" "2021-06-25 04:48:04" "" "" "SEQ-NG-I" "DNA" "blood" "gene panel" "0000377875" "00376670" "1" "04101" "04101" "2021-06-25 04:56:14" "" "" "SEQ-NG-I" "DNA" "" "" "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" "" "" "0000380600" "00379400" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000384505" "00383281" "1" "01741" "01741" "2021-09-28 12:08:10" "" "" "SEQ" "DNA" "" "" "0000385466" "00384241" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385512" "00384287" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385518" "00384293" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385595" "00384370" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385626" "00384401" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385647" "00384422" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385656" "00384431" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385703" "00384478" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385724" "00384499" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000386735" "00385506" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "12 genes panel tested" "0000386746" "00385517" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "144 genes panel tested" "0000387727" "00386500" "1" "00006" "00006" "2021-10-22 17:45:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000397700" "00396460" "1" "00006" "00006" "2021-12-15 16:38:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000398860" "00397622" "1" "00006" "00006" "2021-12-27 11:55:19" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000398861" "00397623" "1" "00006" "00006" "2021-12-27 11:55:19" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000398862" "00397624" "1" "00006" "00006" "2021-12-27 11:55:19" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000398863" "00397625" "1" "00006" "00006" "2021-12-27 11:55:19" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399320" "00398077" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399321" "00398078" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399322" "00398079" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399323" "00398080" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399324" "00398081" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399325" "00398082" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399326" "00398083" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399327" "00398084" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399328" "00398085" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399329" "00398086" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399330" "00398087" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399331" "00398088" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399332" "00398089" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399333" "00398090" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399334" "00398091" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399335" "00398092" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399336" "00398093" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399337" "00398094" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399357" "00398114" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399377" "00398134" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399378" "00398135" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399379" "00398136" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399380" "00398137" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399381" "00398138" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399382" "00398139" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399383" "00398140" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399384" "00398141" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399385" "00398142" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399386" "00398143" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399387" "00398144" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399388" "00398145" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399389" "00398146" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399390" "00398147" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399391" "00398148" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399392" "00398149" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000402903" "00401660" "1" "00006" "00006" "2022-02-01 16:12:21" "" "" "SEQ" "DNA" "" "WES" "0000413187" "00411915" "1" "01233" "01233" "2022-06-20 09:02:09" "" "" "SEQ" "DNA" "" "" "0000413262" "00411990" "1" "01233" "01233" "2022-06-20 09:02:09" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000415719" "00414439" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415727" "00414447" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000418866" "00417571" "1" "01741" "01741" "2022-09-20 11:47:46" "" "" "SEQ-NG" "DNA" "" "" "0000420806" "00419502" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000420807" "00419503" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420808" "00419504" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420809" "00419505" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420810" "00419506" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420811" "00419507" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000420917" "00419613" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000420918" "00419614" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420919" "00419615" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420920" "00419616" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000420921" "00419617" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000420922" "00419618" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000434526" "00433095" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000435541" "00434074" "1" "00006" "00006" "2023-03-19 16:52:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000436514" "00435043" "1" "03256" "03256" "2023-05-02 08:25:38" "" "" "?" "DNA" "" "" "0000446101" "00444533" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446102" "00444534" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446103" "00444535" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446104" "00444536" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446105" "00444537" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446106" "00444538" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446107" "00444539" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446108" "00444540" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446109" "00444541" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446110" "00444542" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446111" "00444543" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446112" "00444544" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446113" "00444545" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446114" "00444546" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446115" "00444547" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446116" "00444548" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446117" "00444549" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446118" "00444550" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446119" "00444551" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446120" "00444552" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446121" "00444553" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446122" "00444554" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446123" "00444555" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446124" "00444556" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446125" "00444557" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446126" "00444558" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446127" "00444559" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446128" "00444560" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446129" "00444561" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446130" "00444562" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446131" "00444563" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446132" "00444564" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446133" "00444565" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446134" "00444566" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446135" "00444567" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446136" "00444568" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446137" "00444569" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446138" "00444570" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446139" "00444571" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446140" "00444572" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446141" "00444573" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446142" "00444574" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446143" "00444575" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446144" "00444576" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446145" "00444577" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446146" "00444578" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446147" "00444579" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446148" "00444580" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446149" "00444581" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446150" "00444582" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446151" "00444583" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446152" "00444584" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446153" "00444585" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446154" "00444586" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446155" "00444587" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446156" "00444588" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446157" "00444589" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446158" "00444590" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446159" "00444591" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446160" "00444592" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446161" "00444593" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446162" "00444594" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446163" "00444595" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000446164" "00444596" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446165" "00444597" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446166" "00444598" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446167" "00444599" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446168" "00444600" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446169" "00444601" "1" "00006" "00006" "2023-12-27 10:30:59" "" "" "SEQ" "DNA" "" "" "0000446442" "00444873" "1" "00006" "00006" "2023-12-28 14:50:54" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448039" "00446466" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448040" "00446467" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448096" "00446523" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448097" "00446524" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448098" "00446525" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000450115" "00448531" "1" "04670" "04670" "2024-03-29 14:27:01" "04670" "2024-03-29 17:54:04" "SEQ-NG" "DNA" "" "gene panel" "0000450117" "00448530" "1" "04670" "04670" "2024-03-29 17:00:19" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000450118" "00448532" "1" "04670" "04670" "2024-03-29 18:05:26" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000450124" "00448535" "1" "04670" "04670" "2024-04-03 09:41:52" "" "" "SEQ-NG" "DNA" "" "" "0000450125" "00448537" "1" "04670" "04670" "2024-04-03 10:05:19" "" "" "SEQ-NG" "DNA" "" "" "0000450143" "00448553" "1" "04670" "04670" "2024-04-08 16:11:33" "" "" "SEQ-NG" "DNA" "" "" "0000450144" "00448554" "1" "04670" "04670" "2024-04-09 02:07:49" "" "" "SEQ-NG" "DNA" "" "" "0000450145" "00448555" "1" "04670" "04670" "2024-04-09 02:10:54" "" "" "SEQ-NG" "DNA" "" "" "0000450146" "00448556" "1" "04670" "04670" "2024-04-09 02:13:03" "" "" "SEQ-NG" "DNA" "" "" "0000450147" "00448557" "1" "04670" "04670" "2024-04-09 02:15:03" "" "" "SEQ-NG" "DNA" "" "" "0000450148" "00448558" "1" "04670" "04670" "2024-04-09 02:17:33" "" "" "SEQ-NG" "DNA" "" "" "0000450149" "00448559" "1" "04670" "04670" "2024-04-09 02:20:56" "" "" "SEQ-NG" "DNA" "" "" "0000450150" "00448560" "1" "04670" "04670" "2024-04-09 02:23:19" "" "" "SEQ-NG" "DNA" "" "" "0000450151" "00448561" "1" "04670" "04670" "2024-04-09 02:25:12" "" "" "SEQ-NG" "DNA" "" "" "0000450152" "00448562" "1" "04670" "04670" "2024-04-09 02:27:02" "" "" "SEQ-NG" "DNA" "" "" "0000450153" "00448563" "1" "04670" "04670" "2024-04-09 02:29:10" "" "" "SEQ-NG" "DNA" "" "" "0000450154" "00448564" "1" "04670" "04670" "2024-04-09 02:34:49" "" "" "SEQ-NG" "DNA" "" "" "0000450155" "00448565" "1" "04670" "04670" "2024-04-09 02:36:28" "" "" "SEQ-NG" "DNA" "" "" "0000450156" "00448566" "1" "04670" "04670" "2024-04-09 02:38:04" "" "" "SEQ-NG" "DNA" "" "" "0000450157" "00448567" "1" "04670" "04670" "2024-04-09 02:39:49" "" "" "SEQ-NG" "DNA" "" "" "0000450158" "00448568" "1" "04670" "04670" "2024-04-09 02:41:25" "" "" "SEQ-NG" "DNA" "" "" "0000450159" "00448569" "1" "04670" "04670" "2024-04-09 02:43:12" "" "" "SEQ-NG" "DNA" "" "" "0000450160" "00448570" "1" "04670" "04670" "2024-04-09 02:45:04" "" "" "SEQ-NG" "DNA" "" "" "0000450161" "00448571" "1" "04670" "04670" "2024-04-09 02:48:34" "" "" "SEQ-NG" "DNA" "" "" "0000450162" "00448572" "1" "04670" "04670" "2024-04-09 02:50:00" "" "" "SEQ-NG" "DNA" "" "" "0000450163" "00448573" "1" "04670" "04670" "2024-04-09 02:52:36" "" "" "SEQ-NG" "DNA" "" "" "0000450165" "00448574" "1" "04670" "04670" "2024-04-09 02:54:13" "" "" "SEQ-NG" "DNA" "" "" "0000450166" "00448575" "1" "04670" "04670" "2024-04-09 02:55:55" "" "" "SEQ-NG" "DNA" "" "" "0000450167" "00448576" "1" "04670" "04670" "2024-04-09 02:57:34" "" "" "SEQ-NG" "DNA" "" "" "0000450168" "00448577" "1" "04670" "04670" "2024-04-09 02:59:10" "" "" "SEQ-NG" "DNA" "" "" "0000450169" "00448578" "1" "04670" "04670" "2024-04-09 04:42:46" "" "" "SEQ-NG" "DNA" "" "" "0000450170" "00448579" "1" "04670" "04670" "2024-04-09 04:44:52" "" "" "SEQ-NG" "DNA" "" "" "0000450171" "00448580" "1" "04670" "04670" "2024-04-09 04:46:43" "" "" "SEQ-NG" "DNA" "" "" "0000450172" "00448581" "1" "04670" "04670" "2024-04-09 04:48:28" "" "" "SEQ-NG" "DNA" "" "" "0000450173" "00448582" "1" "04670" "04670" "2024-04-09 04:50:15" "" "" "SEQ-NG" "DNA" "" "" "0000450174" "00448583" "1" "04670" "04670" "2024-04-09 04:52:10" "" "" "SEQ-NG" "DNA" "" "" "0000450175" "00448584" "1" "04670" "04670" "2024-04-09 04:53:51" "" "" "SEQ-NG" "DNA" "" "" "0000450176" "00448585" "1" "04670" "04670" "2024-04-09 04:55:28" "" "" "SEQ-NG" "DNA" "" "" "0000450177" "00448586" "1" "04670" "04670" "2024-04-09 04:57:06" "" "" "SEQ-NG" "DNA" "" "" "0000450178" "00448587" "1" "04670" "04670" "2024-04-09 04:58:40" "" "" "SEQ-NG" "DNA" "" "" "0000450179" "00448588" "1" "04670" "04670" "2024-04-09 05:00:38" "" "" "SEQ-NG" "DNA" "" "" "0000450180" "00448589" "1" "04670" "04670" "2024-04-09 08:06:55" "" "" "SEQ-NG" "DNA" "" "" "0000450182" "00448591" "1" "04670" "04670" "2024-04-09 08:11:57" "" "" "SEQ-NG" "DNA" "" "" "0000450183" "00448592" "1" "04670" "04670" "2024-04-09 08:14:04" "" "" "SEQ-NG" "DNA" "" "" "0000450184" "00448593" "1" "04670" "04670" "2024-04-09 08:16:11" "" "" "SEQ-NG" "DNA" "" "" "0000450185" "00448594" "1" "04670" "04670" "2024-04-09 08:18:05" "" "" "SEQ-NG" "DNA" "" "" "0000450186" "00448595" "1" "04670" "04670" "2024-04-09 08:19:19" "" "" "SEQ-NG" "DNA" "" "" "0000450187" "00448596" "1" "04670" "04670" "2024-04-09 08:20:52" "" "" "SEQ-NG" "DNA" "" "" "0000450188" "00448597" "1" "04670" "04670" "2024-04-09 08:22:11" "" "" "SEQ-NG" "DNA" "" "" "0000450189" "00448598" "1" "04670" "04670" "2024-04-09 08:23:54" "" "" "SEQ-NG" "DNA" "" "" "0000450190" "00448599" "1" "04670" "04670" "2024-04-09 08:25:44" "" "" "SEQ-NG" "DNA" "" "" "0000450191" "00448600" "1" "04670" "04670" "2024-04-09 08:27:38" "" "" "SEQ-NG" "DNA" "" "" "0000450192" "00448601" "1" "04670" "04670" "2024-04-09 08:29:20" "" "" "SEQ-NG" "DNA" "" "" "0000450193" "00448602" "1" "04670" "04670" "2024-04-09 08:31:33" "" "" "SEQ-NG" "DNA" "" "" "0000450194" "00448603" "1" "04670" "04670" "2024-04-09 08:33:00" "" "" "SEQ-NG" "DNA" "" "" "0000450195" "00448604" "1" "04670" "04670" "2024-04-09 08:34:36" "" "" "SEQ-NG" "DNA" "" "" "0000450196" "00448605" "1" "04670" "04670" "2024-04-09 08:35:58" "" "" "SEQ-NG" "DNA" "" "" "0000450197" "00448606" "1" "04670" "04670" "2024-04-09 08:44:59" "" "" "SEQ-NG" "DNA" "" "" "0000450198" "00448607" "1" "04670" "04670" "2024-04-09 08:49:20" "" "" "SEQ-NG" "DNA" "" "" "0000450199" "00448608" "1" "04670" "04670" "2024-04-09 08:50:30" "" "" "SEQ-NG" "DNA" "" "" "0000450200" "00448609" "1" "04670" "04670" "2024-04-09 08:53:10" "" "" "SEQ-NG" "DNA" "" "" "0000450201" "00448610" "1" "04670" "04670" "2024-04-09 08:54:56" "" "" "SEQ-NG" "DNA" "" "" "0000450202" "00448611" "1" "04670" "04670" "2024-04-09 08:56:33" "" "" "SEQ-NG" "DNA" "" "" "0000450203" "00448612" "1" "04670" "04670" "2024-04-09 08:58:04" "" "" "SEQ-NG" "DNA" "" "" "0000450204" "00448613" "1" "04670" "04670" "2024-04-09 08:59:26" "" "" "SEQ-NG" "DNA" "" "" "0000450205" "00448614" "1" "04670" "04670" "2024-04-09 09:00:59" "" "" "SEQ-NG" "DNA" "" "" "0000450206" "00448615" "1" "04670" "04670" "2024-04-09 15:47:36" "" "" "SEQ-NG" "DNA" "" "" "0000450207" "00448616" "1" "04670" "04670" "2024-04-09 15:49:25" "" "" "SEQ-NG" "DNA" "" "" "0000450208" "00448617" "1" "04670" "04670" "2024-04-09 15:50:54" "" "" "SEQ-NG" "DNA" "" "" "0000450209" "00448618" "1" "04670" "04670" "2024-04-09 15:52:41" "" "" "SEQ-NG" "DNA" "" "" "0000450210" "00448619" "1" "04670" "04670" "2024-04-09 15:54:21" "" "" "SEQ-NG" "DNA" "" "" "0000450211" "00448620" "1" "04670" "04670" "2024-04-09 15:55:46" "" "" "SEQ-NG" "DNA" "" "" "0000450212" "00448621" "1" "04670" "04670" "2024-04-09 15:57:59" "" "" "SEQ-NG" "DNA" "" "" "0000450213" "00448622" "1" "04670" "04670" "2024-04-09 15:59:43" "" "" "SEQ-NG" "DNA" "" "" "0000450214" "00448623" "1" "04670" "04670" "2024-04-09 16:01:15" "" "" "SEQ-NG" "DNA" "" "" "0000450215" "00448624" "1" "04670" "04670" "2024-04-09 16:03:20" "" "" "SEQ-NG" "DNA" "" "" "0000450217" "00448626" "1" "04670" "04670" "2024-04-09 16:07:10" "" "" "SEQ-NG" "DNA" "" "" "0000450218" "00448627" "1" "04670" "04670" "2024-04-09 16:08:46" "" "" "SEQ-NG" "DNA" "" "" "0000450219" "00448628" "1" "04670" "04670" "2024-04-09 16:10:11" "" "" "SEQ-NG" "DNA" "" "" "0000450220" "00448629" "1" "04670" "04670" "2024-04-09 16:11:30" "" "" "SEQ-NG" "DNA" "" "" "0000450221" "00448630" "1" "04670" "04670" "2024-04-09 16:13:04" "" "" "SEQ-NG" "DNA" "" "" "0000450222" "00448631" "1" "04670" "04670" "2024-04-09 16:14:34" "" "" "SEQ-NG" "DNA" "" "" "0000450223" "00448632" "1" "04670" "04670" "2024-04-09 16:16:10" "" "" "SEQ-NG" "DNA" "" "" "0000450224" "00448633" "1" "04670" "04670" "2024-04-09 16:17:25" "" "" "SEQ-NG" "DNA" "" "" "0000450225" "00448634" "1" "04670" "04670" "2024-04-09 16:18:37" "" "" "SEQ-NG" "DNA" "" "" "0000450226" "00448635" "1" "04670" "04670" "2024-04-09 16:20:48" "" "" "SEQ-NG" "DNA" "" "" "0000450227" "00448636" "1" "04670" "04670" "2024-04-09 16:22:45" "" "" "SEQ-NG" "DNA" "" "" "0000450228" "00448637" "1" "04670" "04670" "2024-04-09 16:25:09" "" "" "SEQ-NG" "DNA" "" "" "0000450229" "00448638" "1" "04670" "04670" "2024-04-09 16:26:32" "" "" "SEQ-NG" "DNA" "" "" "0000450230" "00448639" "1" "04670" "04670" "2024-04-10 06:49:48" "" "" "SEQ-NG" "DNA" "" "" "0000450231" "00448640" "1" "04670" "04670" "2024-04-10 06:51:09" "" "" "SEQ-NG" "DNA" "" "" "0000450232" "00448641" "1" "04670" "04670" "2024-04-10 06:52:39" "" "" "SEQ-NG" "DNA" "" "" "0000450233" "00448642" "1" "04670" "04670" "2024-04-10 06:53:49" "" "" "SEQ-NG" "DNA" "" "" "0000450234" "00448643" "1" "04670" "04670" "2024-04-10 06:55:07" "" "" "SEQ-NG" "DNA" "" "" "0000450236" "00448645" "1" "04670" "04670" "2024-04-10 06:58:08" "" "" "SEQ-NG" "DNA" "" "" "0000450237" "00448646" "1" "04670" "04670" "2024-04-10 06:59:39" "" "" "SEQ-NG" "DNA" "" "" "0000450238" "00448647" "1" "04670" "04670" "2024-04-10 07:00:53" "" "" "SEQ-NG" "DNA" "" "" "0000450239" "00448648" "1" "04670" "04670" "2024-04-10 07:42:15" "" "" "SEQ-NG" "DNA" "" "" "0000450240" "00448649" "1" "04670" "04670" "2024-04-10 07:44:06" "" "" "SEQ-NG" "DNA" "" "" "0000450241" "00448650" "1" "04670" "04670" "2024-04-10 07:45:17" "" "" "SEQ-NG" "DNA" "" "" "0000450242" "00448651" "1" "04670" "04670" "2024-04-10 07:47:41" "" "" "SEQ-NG" "DNA" "" "" "0000450243" "00448652" "1" "04670" "04670" "2024-04-10 07:48:59" "" "" "SEQ-NG" "DNA" "" "" "0000450244" "00448653" "1" "04670" "04670" "2024-04-10 07:50:19" "" "" "SEQ-NG" "DNA" "" "" "0000450245" "00448654" "1" "04670" "04670" "2024-04-10 07:51:39" "" "" "SEQ-NG" "DNA" "" "" "0000450246" "00448655" "1" "04670" "04670" "2024-04-10 07:53:01" "" "" "SEQ-NG" "DNA" "" "" "0000450247" "00448656" "1" "04670" "04670" "2024-04-10 07:54:24" "" "" "SEQ-NG" "DNA" "" "" "0000450248" "00448657" "1" "04670" "04670" "2024-04-10 07:55:38" "" "" "SEQ-NG" "DNA" "" "" "0000450249" "00448658" "1" "04670" "04670" "2024-04-10 07:56:50" "" "" "SEQ-NG" "DNA" "" "" "0000450250" "00448659" "1" "04670" "04670" "2024-04-10 07:58:18" "" "" "SEQ-NG" "DNA" "" "" "0000450251" "00448660" "1" "04670" "04670" "2024-04-10 08:00:09" "" "" "SEQ-NG" "DNA" "" "" "0000450252" "00448661" "1" "04670" "04670" "2024-04-10 08:02:06" "" "" "SEQ-NG" "DNA" "" "" "0000450253" "00448662" "1" "04670" "04670" "2024-04-10 08:03:51" "" "" "SEQ-NG" "DNA" "" "" "0000450254" "00448663" "1" "04670" "04670" "2024-04-10 08:05:36" "" "" "SEQ-NG" "DNA" "" "" "0000450255" "00448664" "1" "04670" "04670" "2024-04-10 08:06:58" "" "" "SEQ-NG" "DNA" "" "" "0000450256" "00448665" "1" "04670" "04670" "2024-04-10 08:08:24" "" "" "SEQ-NG" "DNA" "" "" "0000450257" "00448666" "1" "04670" "04670" "2024-04-10 08:09:48" "" "" "SEQ-NG" "DNA" "" "" "0000450258" "00448667" "1" "04670" "04670" "2024-04-10 08:11:27" "" "" "SEQ-NG" "DNA" "" "" "0000450265" "00448674" "1" "04670" "04670" "2024-04-11 16:40:09" "" "" "SEQ-NG" "DNA" "" "" "0000450266" "00448675" "1" "04670" "04670" "2024-04-11 16:42:54" "" "" "SEQ-NG" "DNA" "" "" "0000450267" "00448676" "1" "04670" "04670" "2024-04-11 16:44:39" "" "" "SEQ-NG" "DNA" "" "" "0000450268" "00448677" "1" "04670" "04670" "2024-04-11 16:46:28" "" "" "SEQ-NG" "DNA" "" "" "0000450269" "00448678" "1" "04670" "04670" "2024-04-11 16:48:19" "" "" "SEQ-NG" "DNA" "" "" "0000450270" "00448679" "1" "04670" "04670" "2024-04-11 16:50:27" "" "" "SEQ-NG" "DNA" "" "" "0000450271" "00448680" "1" "04670" "04670" "2024-04-11 16:52:01" "" "" "SEQ-NG" "DNA" "" "" "0000450272" "00448681" "1" "04670" "04670" "2024-04-11 17:00:25" "" "" "SEQ-NG" "DNA" "" "" "0000450273" "00448682" "1" "04670" "04670" "2024-04-11 17:03:52" "" "" "SEQ-NG" "DNA" "" "" "0000450274" "00448683" "1" "04670" "04670" "2024-04-11 17:08:15" "" "" "SEQ-NG" "DNA" "" "" "0000450275" "00448684" "1" "04670" "04670" "2024-04-11 17:13:39" "" "" "SEQ-NG" "DNA" "" "" "0000450276" "00448685" "1" "04670" "04670" "2024-04-11 17:15:54" "" "" "SEQ-NG" "DNA" "" "" "0000450277" "00448686" "1" "04670" "04670" "2024-04-11 17:20:44" "" "" "SEQ-NG" "DNA" "" "" "0000450285" "00448694" "1" "04670" "04670" "2024-04-12 12:57:11" "" "" "SEQ-NG" "DNA" "" "" "0000450286" "00448695" "1" "04670" "04670" "2024-04-12 12:59:11" "" "" "SEQ-NG" "DNA" "" "" "0000450287" "00448696" "1" "04670" "04670" "2024-04-12 13:01:08" "" "" "SEQ-NG" "DNA" "" "" "0000450288" "00448697" "1" "04670" "04670" "2024-04-12 13:02:13" "" "" "SEQ-NG" "DNA" "" "" "0000450289" "00448698" "1" "04670" "04670" "2024-04-12 13:03:32" "" "" "SEQ-NG" "DNA" "" "" "0000450290" "00448699" "1" "04670" "04670" "2024-04-12 13:04:48" "" "" "SEQ-NG" "DNA" "" "" "0000450291" "00448700" "1" "04670" "04670" "2024-04-12 13:06:02" "" "" "SEQ-NG" "DNA" "" "" "0000450292" "00448701" "1" "04670" "04670" "2024-04-12 13:07:08" "" "" "SEQ-NG" "DNA" "" "" "0000450293" "00448702" "1" "04670" "04670" "2024-04-12 13:08:19" "" "" "SEQ-NG" "DNA" "" "" "0000450294" "00448703" "1" "04670" "04670" "2024-04-12 13:09:30" "" "" "SEQ-NG" "DNA" "" "" "0000450295" "00448704" "1" "04670" "04670" "2024-04-12 13:10:44" "" "" "SEQ-NG" "DNA" "" "" "0000450296" "00448705" "1" "04670" "04670" "2024-04-12 13:12:06" "" "" "SEQ-NG" "DNA" "" "" "0000450298" "00448707" "1" "04670" "04670" "2024-04-12 13:14:31" "" "" "SEQ-NG" "DNA" "" "" "0000450300" "00448709" "1" "04670" "04670" "2024-04-13 04:48:23" "" "" "SEQ-NG" "DNA" "" "" "0000450301" "00448710" "1" "04670" "04670" "2024-04-13 04:49:53" "" "" "SEQ-NG" "DNA" "" "" "0000450302" "00448711" "1" "04670" "04670" "2024-04-13 04:51:31" "" "" "SEQ-NG" "DNA" "" "" "0000450303" "00448712" "1" "04670" "04670" "2024-04-13 04:52:56" "" "" "SEQ-NG" "DNA" "" "" "0000450304" "00448713" "1" "04670" "04670" "2024-04-13 04:54:28" "" "" "SEQ-NG" "DNA" "" "" "0000450305" "00448714" "1" "04670" "04670" "2024-04-13 04:56:16" "" "" "SEQ-NG" "DNA" "" "" "0000450306" "00448715" "1" "04670" "04670" "2024-04-13 04:57:34" "" "" "SEQ-NG" "DNA" "" "" "0000450307" "00448716" "1" "04670" "04670" "2024-04-13 04:58:52" "" "" "SEQ-NG" "DNA" "" "" "0000450308" "00448717" "1" "04670" "04670" "2024-04-13 05:01:30" "" "" "SEQ-NG" "DNA" "" "" "0000450309" "00448718" "1" "04670" "04670" "2024-04-13 05:02:55" "" "" "SEQ-NG" "DNA" "" "" "0000450310" "00448719" "1" "04670" "04670" "2024-04-13 05:04:06" "" "" "SEQ-NG" "DNA" "" "" "0000450311" "00448720" "1" "04670" "04670" "2024-04-13 05:05:23" "" "" "SEQ-NG" "DNA" "" "" "0000450312" "00448721" "1" "04670" "04670" "2024-04-13 05:06:43" "" "" "SEQ-NG" "DNA" "" "" "0000450313" "00448722" "1" "04670" "04670" "2024-04-13 05:08:13" "" "" "SEQ-NG" "DNA" "" "" "0000450314" "00448723" "1" "04670" "04670" "2024-04-13 05:09:23" "" "" "SEQ-NG" "DNA" "" "" "0000450315" "00448724" "1" "04670" "04670" "2024-04-13 05:10:44" "" "" "SEQ-NG" "DNA" "" "" "0000450316" "00448725" "1" "04670" "04670" "2024-04-13 05:12:09" "" "" "SEQ-NG" "DNA" "" "" "0000450317" "00448726" "1" "04670" "04670" "2024-04-13 05:13:45" "" "" "SEQ-NG" "DNA" "" "" "0000450318" "00448727" "1" "04670" "04670" "2024-04-13 05:15:02" "" "" "SEQ-NG" "DNA" "" "" "0000450319" "00448728" "1" "04670" "04670" "2024-04-13 05:16:28" "" "" "SEQ-NG" "DNA" "" "" "0000450320" "00448729" "1" "04670" "04670" "2024-04-13 05:17:51" "" "" "SEQ-NG" "DNA" "" "" "0000450321" "00448730" "1" "04670" "04670" "2024-04-13 05:19:06" "" "" "SEQ-NG" "DNA" "" "" "0000450322" "00448731" "1" "04670" "04670" "2024-04-13 05:20:16" "" "" "SEQ-NG" "DNA" "" "" "0000450324" "00448733" "1" "04670" "04670" "2024-04-13 05:23:17" "" "" "SEQ-NG" "DNA" "" "" "0000450325" "00448734" "1" "04670" "04670" "2024-04-13 05:24:31" "" "" "SEQ-NG" "DNA" "" "" "0000450326" "00448735" "1" "04670" "04670" "2024-04-13 05:26:17" "" "" "SEQ-NG" "DNA" "" "" "0000450327" "00448736" "1" "04670" "04670" "2024-04-13 05:27:24" "" "" "SEQ-NG" "DNA" "" "" "0000450328" "00448737" "1" "04670" "04670" "2024-04-13 05:28:42" "" "" "SEQ-NG" "DNA" "" "" "0000450329" "00448738" "1" "04670" "04670" "2024-04-13 05:29:52" "" "" "SEQ-NG" "DNA" "" "" "0000450330" "00448739" "1" "04670" "04670" "2024-04-13 05:31:19" "" "" "SEQ-NG" "DNA" "" "" "0000450331" "00448740" "1" "04670" "04670" "2024-04-13 05:32:41" "" "" "SEQ-NG" "DNA" "" "" "0000450332" "00448741" "1" "04670" "04670" "2024-04-13 05:33:51" "" "" "SEQ-NG" "DNA" "" "" "0000450333" "00448742" "1" "04670" "04670" "2024-04-13 06:10:57" "" "" "SEQ-NG" "DNA" "" "" "0000450334" "00448743" "1" "04670" "04670" "2024-04-13 06:12:28" "" "" "SEQ-NG" "DNA" "" "" "0000450335" "00448744" "1" "04670" "04670" "2024-04-13 08:27:07" "" "" "SEQ-NG" "DNA" "" "" "0000450336" "00448745" "1" "04670" "04670" "2024-04-13 08:29:05" "" "" "SEQ-NG" "DNA" "" "" "0000450337" "00448746" "1" "04670" "04670" "2024-04-13 08:31:16" "" "" "SEQ-NG" "DNA" "" "" "0000450338" "00448747" "1" "04670" "04670" "2024-04-13 08:34:02" "" "" "SEQ-NG" "DNA" "" "" "0000450339" "00448748" "1" "04670" "04670" "2024-04-13 08:37:25" "" "" "SEQ-NG" "DNA" "" "" "0000450340" "00448749" "1" "04670" "04670" "2024-04-13 08:38:52" "" "" "SEQ-NG" "DNA" "" "" "0000450341" "00448750" "1" "04670" "04670" "2024-04-13 08:40:17" "" "" "SEQ-NG" "DNA" "" "" "0000450342" "00448751" "1" "04670" "04670" "2024-04-13 08:41:30" "" "" "SEQ-NG" "DNA" "" "" "0000450343" "00448752" "1" "04670" "04670" "2024-04-13 08:42:47" "" "" "SEQ-NG" "DNA" "" "" "0000450344" "00448753" "1" "04670" "04670" "2024-04-13 08:43:54" "" "" "SEQ-NG" "DNA" "" "" "0000450345" "00448754" "1" "04670" "04670" "2024-04-13 08:45:53" "" "" "SEQ-NG" "DNA" "" "" "0000450346" "00448755" "1" "04670" "04670" "2024-04-13 08:46:58" "" "" "SEQ-NG" "DNA" "" "" "0000450347" "00448756" "1" "04670" "04670" "2024-04-13 08:48:06" "" "" "SEQ-NG" "DNA" "" "" "0000450348" "00448757" "1" "04670" "04670" "2024-04-13 08:49:06" "" "" "SEQ-NG" "DNA" "" "" "0000450349" "00448758" "1" "04670" "04670" "2024-04-13 08:50:32" "" "" "SEQ-NG" "DNA" "" "" "0000450350" "00448759" "1" "04670" "04670" "2024-04-13 08:51:47" "" "" "SEQ-NG" "DNA" "" "" "0000450351" "00448760" "1" "04670" "04670" "2024-04-13 08:52:50" "" "" "SEQ-NG" "DNA" "" "" "0000450352" "00448761" "1" "04670" "04670" "2024-04-13 08:54:13" "" "" "SEQ-NG" "DNA" "" "" "0000450353" "00448762" "1" "04670" "04670" "2024-04-13 10:40:17" "" "" "SEQ-NG" "DNA" "" "" "0000450354" "00448763" "1" "04670" "04670" "2024-04-13 10:41:39" "" "" "SEQ-NG" "DNA" "" "" "0000450355" "00448764" "1" "04670" "04670" "2024-04-13 10:42:53" "" "" "SEQ-NG" "DNA" "" "" "0000450356" "00448765" "1" "04670" "04670" "2024-04-13 10:44:25" "" "" "SEQ-NG" "DNA" "" "" "0000450357" "00448766" "1" "04670" "04670" "2024-04-13 12:10:38" "" "" "SEQ-NG" "DNA" "" "" "0000450358" "00448767" "1" "04670" "04670" "2024-04-13 12:12:01" "" "" "SEQ-NG" "DNA" "" "" "0000450359" "00448768" "1" "04670" "04670" "2024-04-13 12:13:14" "" "" "SEQ-NG" "DNA" "" "" "0000450360" "00448769" "1" "04670" "04670" "2024-04-13 12:14:13" "" "" "SEQ-NG" "DNA" "" "" "0000450361" "00448770" "1" "04670" "04670" "2024-04-13 12:15:31" "" "" "SEQ-NG" "DNA" "" "" "0000450363" "00448772" "1" "04670" "04670" "2024-04-13 12:17:52" "" "" "SEQ-NG" "DNA" "" "" "0000450364" "00448773" "1" "04670" "04670" "2024-04-13 12:18:53" "" "" "SEQ-NG" "DNA" "" "" "0000450365" "00448774" "1" "04670" "04670" "2024-04-13 12:20:14" "" "" "SEQ-NG" "DNA" "" "" "0000450367" "00448776" "1" "04670" "04670" "2024-04-13 12:22:22" "" "" "SEQ-NG" "DNA" "" "" "0000450368" "00448777" "1" "04670" "04670" "2024-04-13 12:23:24" "" "" "SEQ-NG" "DNA" "" "" "0000450369" "00448778" "1" "04670" "04670" "2024-04-13 12:24:33" "" "" "SEQ-NG" "DNA" "" "" "0000450370" "00448779" "1" "04670" "04670" "2024-04-13 12:25:37" "" "" "SEQ-NG" "DNA" "" "" "0000450371" "00448780" "1" "04670" "04670" "2024-04-13 12:47:25" "" "" "SEQ-NG" "DNA" "" "" "0000450372" "00448781" "1" "04670" "04670" "2024-04-13 12:48:31" "" "" "SEQ-NG" "DNA" "" "" "0000453207" "00451605" "1" "03544" "03544" "2024-06-13 10:22:20" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000455347" "00453735" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000460181" "00458560" "1" "00006" "00006" "2024-12-18 17:31:10" "" "" "SEQ" "DNA" "" "" "0000462526" "00460894" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" "0000462668" "00461036" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" "0000468360" "00466696" "1" "00006" "00006" "2025-09-23 14:50:33" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 635 "{{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" "0000320550" "COL3A1" "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" "0000377870" "FBN1" "0000377871" "FBN1" "0000377872" "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" "0000380600" "FBN1" "0000384505" "FBN1" "0000385466" "FBN1" "0000385512" "FBN1" "0000385518" "FBN1" "0000385595" "FBN1" "0000385626" "FBN1" "0000385647" "FBN1" "0000385656" "FBN1" "0000385703" "FBN1" "0000385724" "FBN1" "0000386735" "FBN1" "0000386746" "FBN1" "0000399320" "FBN1" "0000399321" "FBN1" "0000399322" "FBN1" "0000399323" "FBN1" "0000399324" "FBN1" "0000399325" "FBN1" "0000399326" "FBN1" "0000399327" "FBN1" "0000399328" "FBN1" "0000399329" "FBN1" "0000399330" "FBN1" "0000399331" "FBN1" "0000399332" "FBN1" "0000399333" "FBN1" "0000399334" "FBN1" "0000399335" "FBN1" "0000399336" "FBN1" "0000399337" "FBN1" "0000399357" "FBN1" "0000399357" "TGFB2" "0000399377" "FBN1" "0000399378" "FBN1" "0000399379" "FBN1" "0000399380" "FBN1" "0000399381" "FBN1" "0000399382" "FBN1" "0000399383" "FBN1" "0000399384" "FBN1" "0000399385" "FBN1" "0000399386" "FBN1" "0000399387" "FBN1" "0000399388" "FBN1" "0000399388" "FBN2" "0000399389" "FBN1" "0000399390" "FBN1" "0000399391" "FBN1" "0000399392" "FBN1" "0000413187" "FBN1" "0000413262" "FBN1" "0000415719" "FBN1" "0000415727" "FBN1" "0000418866" "FBN1" "0000436514" "FBN1" "0000446101" "FBN1" "0000446102" "FBN1" "0000446103" "FBN1" "0000446104" "FBN1" "0000446105" "FBN1" "0000446106" "FBN1" "0000446107" "FBN1" "0000446108" "FBN1" "0000446109" "FBN1" "0000446110" "FBN1" "0000446111" "FBN1" "0000446112" "FBN1" "0000446113" "FBN1" "0000446114" "FBN1" "0000446115" "FBN1" "0000446116" "FBN1" "0000446117" "FBN1" "0000446118" "FBN1" "0000446119" "FBN1" "0000446120" "FBN1" "0000446121" "FBN1" "0000446122" "FBN1" "0000446123" "FBN1" "0000446124" "FBN1" "0000446125" "FBN1" "0000446126" "FBN1" "0000446127" "FBN1" "0000446128" "FBN1" "0000446129" "FBN1" "0000446130" "FBN1" "0000446131" "FBN1" "0000446132" "FBN1" "0000446133" "FBN1" "0000446134" "FBN1" "0000446135" "FBN1" "0000446136" "FBN1" "0000446137" "FBN1" "0000446138" "FBN1" "0000446139" "FBN1" "0000446140" "FBN1" "0000446141" "FBN1" "0000446142" "FBN1" "0000446143" "FBN1" "0000446144" "FBN1" "0000446145" "FBN1" "0000446146" "FBN1" "0000446147" "FBN1" "0000446148" "FBN1" "0000446149" "FBN1" "0000446150" "FBN1" "0000446151" "FBN1" "0000446152" "FBN1" "0000446153" "FBN1" "0000446154" "FBN1" "0000446155" "FBN1" "0000446156" "FBN1" "0000446157" "FBN1" "0000446158" "FBN1" "0000446159" "FBN1" "0000446160" "FBN1" "0000446161" "FBN1" "0000446162" "FBN1" "0000446163" "FBN1" "0000446164" "FBN1" "0000446165" "FBN1" "0000446166" "FBN1" "0000446167" "FBN1" "0000446168" "FBN1" "0000446169" "FBN1" "0000450115" "FBN1" "0000450117" "FBN1" "0000450118" "FBN1" "0000450124" "FBN1" "0000450125" "FBN1" "0000450143" "FBN1" "0000450144" "FBN1" "0000450145" "FBN1" "0000450146" "FBN1" "0000450147" "FBN1" "0000450148" "FBN1" "0000450149" "FBN1" "0000450150" "FBN1" "0000450151" "FBN1" "0000450152" "FBN1" "0000450153" "FBN1" "0000450154" "FBN1" "0000450155" "FBN1" "0000450156" "FBN1" "0000450157" "FBN1" "0000450158" "FBN1" "0000450159" "FBN1" "0000450160" "FBN1" "0000450161" "FBN1" "0000450162" "FBN1" "0000450163" "FBN1" "0000450165" "FBN1" "0000450166" "FBN1" "0000450167" "FBN1" "0000450168" "FBN1" "0000450169" "FBN1" "0000450170" "FBN1" "0000450171" "FBN1" "0000450172" "FBN1" "0000450173" "FBN1" "0000450174" "FBN1" "0000450175" "FBN1" "0000450176" "FBN1" "0000450177" "FBN1" "0000450178" "FBN1" "0000450179" "FBN1" "0000450180" "FBN1" "0000450182" "FBN1" "0000450183" "FBN1" "0000450184" "FBN1" "0000450185" "FBN1" "0000450186" "FBN1" "0000450187" "FBN1" "0000450188" "FBN1" "0000450189" "FBN1" "0000450190" "FBN1" "0000450191" "FBN1" "0000450192" "FBN1" "0000450193" "FBN1" "0000450194" "FBN1" "0000450195" "FBN1" "0000450196" "FBN1" "0000450197" "FBN1" "0000450198" "FBN1" "0000450199" "FBN1" "0000450200" "FBN1" "0000450201" "FBN1" "0000450202" "FBN1" "0000450203" "FBN1" "0000450204" "FBN1" "0000450205" "FBN1" "0000450206" "FBN1" "0000450207" "FBN1" "0000450208" "FBN1" "0000450209" "FBN1" "0000450210" "FBN1" "0000450211" "FBN1" "0000450212" "FBN1" "0000450213" "FBN1" "0000450214" "FBN1" "0000450215" "FBN1" "0000450217" "FBN1" "0000450218" "FBN1" "0000450219" "FBN1" "0000450220" "FBN1" "0000450221" "FBN1" "0000450222" "FBN1" "0000450223" "FBN1" "0000450224" "FBN1" "0000450225" "FBN1" "0000450226" "FBN1" "0000450227" "FBN1" "0000450228" "FBN1" "0000450229" "FBN1" "0000450230" "FBN1" "0000450231" "FBN1" "0000450232" "FBN1" "0000450233" "FBN1" "0000450234" "FBN1" "0000450236" "FBN1" "0000450237" "FBN1" "0000450238" "FBN1" "0000450239" "FBN1" "0000450240" "FBN1" "0000450241" "FBN1" "0000450242" "FBN1" "0000450243" "FBN1" "0000450244" "FBN1" "0000450245" "FBN1" "0000450246" "FBN1" "0000450247" "FBN1" "0000450248" "FBN1" "0000450249" "FBN1" "0000450250" "FBN1" "0000450251" "FBN1" "0000450252" "FBN1" "0000450253" "FBN1" "0000450254" "FBN1" "0000450255" "FBN1" "0000450256" "FBN1" "0000450257" "FBN1" "0000450258" "FBN1" "0000450265" "FBN1" "0000450266" "FBN1" "0000450267" "FBN1" "0000450268" "FBN1" "0000450269" "FBN1" "0000450270" "FBN1" "0000450271" "FBN1" "0000450272" "FBN1" "0000450273" "FBN1" "0000450274" "FBN1" "0000450275" "FBN1" "0000450276" "FBN1" "0000450277" "FBN1" "0000450285" "FBN1" "0000450286" "FBN1" "0000450287" "FBN1" "0000450288" "FBN1" "0000450289" "FBN1" "0000450290" "FBN1" "0000450291" "FBN1" "0000450292" "FBN1" "0000450293" "FBN1" "0000450294" "FBN1" "0000450295" "FBN1" "0000450296" "FBN1" "0000450298" "FBN1" "0000450300" "FBN1" "0000450301" "FBN1" "0000450302" "FBN1" "0000450303" "FBN1" "0000450304" "FBN1" "0000450305" "FBN1" "0000450306" "FBN1" "0000450307" "FBN1" "0000450308" "FBN1" "0000450309" "FBN1" "0000450310" "FBN1" "0000450311" "FBN1" "0000450312" "FBN1" "0000450313" "FBN1" "0000450314" "FBN1" "0000450315" "FBN1" "0000450316" "FBN1" "0000450317" "FBN1" "0000450318" "FBN1" "0000450319" "FBN1" "0000450320" "FBN1" "0000450321" "FBN1" "0000450322" "FBN1" "0000450324" "FBN1" "0000450325" "FBN1" "0000450326" "FBN1" "0000450327" "FBN1" "0000450328" "FBN1" "0000450329" "FBN1" "0000450330" "FBN1" "0000450331" "FBN1" "0000450332" "FBN1" "0000450333" "FBN1" "0000450334" "FBN1" "0000450335" "FBN1" "0000450336" "FBN1" "0000450337" "FBN1" "0000450338" "FBN1" "0000450339" "FBN1" "0000450340" "FBN1" "0000450341" "FBN1" "0000450342" "FBN1" "0000450343" "FBN1" "0000450344" "FBN1" "0000450345" "FBN1" "0000450346" "FBN1" "0000450347" "FBN1" "0000450348" "FBN1" "0000450349" "FBN1" "0000450350" "FBN1" "0000450351" "FBN1" "0000450352" "FBN1" "0000450353" "FBN1" "0000450354" "FBN1" "0000450355" "FBN1" "0000450356" "FBN1" "0000450357" "FBN1" "0000450358" "FBN1" "0000450359" "FBN1" "0000450360" "FBN1" "0000450361" "FBN1" "0000450363" "FBN1" "0000450364" "FBN1" "0000450365" "FBN1" "0000450367" "FBN1" "0000450368" "FBN1" "0000450369" "FBN1" "0000450370" "FBN1" "0000450371" "FBN1" "0000450372" "FBN1" "0000460181" "FBN1" "0000462526" "FBN1" "0000462668" "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 = 2281 "{{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" "9.75824E-5" "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" "4.0816E-6" "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" "7.73458E-5" "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" "4.06881E-6" "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" "8.13703E-6" "02325" "FBN1_000167" "g.48787697A>T" "" "" "" "FBN1(NM_000138.4):c.2508T>A (p.S836R), FBN1(NM_000138.5):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" "3.67857E-5" "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" "90" "15" "48712949" "48712949" "subst" "1.62819E-5" "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" "" "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" "6.50089E-5" "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" "1.62819E-5" "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" "8.13703E-6" "01943" "FBN1_000167" "g.48787697A>T" "" "" "" "FBN1(NM_000138.4):c.2508T>A (p.S836R), FBN1(NM_000138.5):c.2508T>A (p.S836R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48495500A>T" "" "VUS" "" "0000256116" "0" "50" "15" "48787754" "48787754" "subst" "8.13517E-6" "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), FBN1(NM_000138.5):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=), FBN1(NM_000138.5):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_000138.5):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), FBN1(NM_000138.5):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_000138.5):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, FBN1(NM_000138.5):c.6997+17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48428329G>C" "" "benign" "" "0000283013" "0" "30" "15" "48812977" "48812977" "subst" "8.12671E-6" "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" "6.9095E-5" "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), FBN1(NM_000138.5):c.1415G>A (p.C472Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48515440=" "" "benign" "" "0000283017" "0" "90" "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" "" "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=), FBN1(NM_000138.5):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" "6.49989E-5" "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=, p.(Cys102=))" "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=), FBN1(NM_000138.5):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, p.(Arg1170His))" "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" "" "0000283050" "0" "70" "15" "48736819" "48736824" "dup" "0" "02329" "FBN1_000125" "g.48736819_48736824dup" "" "" "" "FBN1(NM_000138.4):c.5951_5956dupGTGCAC (p.A1985_P1986insRA)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48444622_48444627dup" "" "likely pathogenic" "" "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=), FBN1(NM_000138.5):c.6681A>C (p.(Ser2227=))" "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, p.(Val2234Met))" "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.(=), 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, FBN1(NM_000138.5):c.6997+17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48428329G>C" "" "benign" "" "0000283062" "0" "30" "15" "48720524" "48720524" "subst" "4.07242E-6" "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" "9.35598E-5" "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" "6.50264E-5" "02329" "FBN1_000100" "g.48717640T>C" "" "" "" "FBN1(NM_000138.4):c.7379A>G (p.K2460R, p.(Lys2460Arg))" "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" "4.06431E-6" "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" "9.34997E-5" "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" "4.47035E-5" "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" "8.12374E-6" "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=), FBN1(NM_000138.5):c.8232G>A (p.(Gln2744=))" "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" "4.06204E-6" "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=), FBN1(NM_000138.5):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, p.(Arg1170His))" "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" "4.07814E-6" "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" "8.13862E-6" "02326" "FBN1_000113" "g.48725143C>T" "" "" "" "FBN1(NM_000138.4):c.6659G>A (p.R2220Q), FBN1(NM_000138.5):c.6659G>A (p.(Arg2220Gln))" "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.(Pro2278Ser), 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" "4.06431E-6" "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=), FBN1(NM_000138.5):c.8232G>A (p.(Gln2744=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48411374C>T" "" "likely benign" "" "0000283871" "0" "30" "15" "48703571" "48703571" "subst" "1.22172E-5" "02326" "FBN1_000087" "g.48703571C>G" "" "" "" "FBN1(NM_000138.4):c.8232G>C (p.Q2744H, p.(Gln2744His))" "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" "4.07518E-6" "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" "2.03163E-5" "01943" "FBN1_000180" "g.48808418G>A" "" "" "" "FBN1(NM_000138.4):c.1289C>T (p.P430L, p.(Pro430Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48516221G>A" "" "VUS" "" "0000287209" "0" "50" "15" "48807682" "48807682" "subst" "1.62617E-5" "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" "2.03211E-5" "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" "3.65699E-5" "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" "8.12361E-6" "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" "3.2546E-5" "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" "6.49989E-5" "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" "1.62633E-5" "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=, p.(Cys102=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48610768G>A" "" "likely benign" "" "0000287222" "0" "50" "15" "48780628" "48780628" "subst" "1.62429E-5" "01943" "FBN1_000157" "g.48780628C>T" "" "" "" "FBN1(NM_000138.4):c.3145G>A (p.G1049S), FBN1(NM_000138.5):c.3145G>A (p.(Gly1049Ser))" "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" "3.2487E-5" "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" "2.84269E-5" "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" "6.90355E-5" "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, p.(Arg1170His))" "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" "1.62697E-5" "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" "8.13359E-6" "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" "1.22141E-5" "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" "8.12262E-6" "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), FBN1(NM_000138.5):c.59A>G (p.Y20C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48644711T>C" "" "VUS" "" "0000287244" "0" "50" "15" "48734026" "48734026" "subst" "1.63026E-5" "01943" "FBN1_000124" "g.48734026C>T" "" "" "" "FBN1(NM_000138.4):c.6055G>A (p.E2019K), FBN1(NM_000138.5):c.6055G>A (p.(Glu2019Lys))" "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), FBN1(NM_000138.5):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" "4.06845E-6" "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=), FBN1(NM_000138.5):c.6681A>C (p.(Ser2227=))" "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, p.(Val2234Met))" "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" "1.22088E-5" "01943" "FBN1_000110" "g.48725078G>A" "" "" "" "FBN1(NM_000138.4):c.6724C>T (p.R2242C, p.(Arg2242Cys))" "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, p.(Asp2329Glu))" "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, FBN1(NM_000138.5):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" "7.73458E-5" "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" "6.50264E-5" "01943" "FBN1_000100" "g.48717640T>C" "" "" "" "FBN1(NM_000138.4):c.7379A>G (p.K2460R, p.(Lys2460Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48425443T>C" "" "VUS" "" "0000287259" "0" "50" "15" "48717607" "48717607" "subst" "2.03148E-5" "01943" "FBN1_000099" "g.48717607G>C" "" "" "" "FBN1(NM_000138.4):c.7412C>G (p.P2471R, p.(Pro2471Arg)), FBN1(NM_000138.5):c.7412C>G (p.P2471R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48425410G>C" "" "VUS" "" "0000287260" "0" "30" "15" "48714159" "48714159" "subst" "9.34997E-5" "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=), FBN1(NM_000138.5):c.8232G>A (p.(Gln2744=))" "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" "1.6361E-5" "01804" "FBN1_000093" "g.48713770C>T" "" "" "" "FBN1(NM_000138.4):c.7684G>A (p.G2562S, p.(Gly2562Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48421573C>T" "" "VUS" "" "0000324088" "0" "50" "15" "48779358" "48779358" "subst" "6.90355E-5" "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" "30" "15" "48818329" "48818329" "subst" "0.00155168" "01804" "FBN1_000186" "g.48818329A>G" "" "" "" "FBN1(NM_000138.4):c.986T>C (p.(Ile329Thr), p.I329T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48526132A>G" "" "likely benign" "" "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" "1.21875E-5" "01804" "FBN1_000196" "g.48902987G>A" "" "" "" "FBN1(NM_000138.4):c.284C>T (p.(Ser95Leu), p.S95L)" "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" "" "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" "1.21875E-5" "02327" "FBN1_000196" "g.48902987G>A" "" "" "" "FBN1(NM_000138.4):c.284C>T (p.(Ser95Leu), p.S95L)" "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" "4.0816E-6" "02497" "FBN1_000029" "g.48808532G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48516335G>A" "" "likely benign" "" "0000369297" "11" "30" "15" "48808532" "48808532" "subst" "4.0816E-6" "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" "4.87302E-5" "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" "3.24881E-5" "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" "8.12275E-6" "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" "5.32529E-5" "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" "4.09561E-6" "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" "4.09903E-6" "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" "3.66814E-5" "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" "1.62823E-5" "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" "4.0621E-6" "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" "1.21825E-5" "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" "4.06098E-6" "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" "2.03036E-5" "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" "1.21859E-5" "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" "1.21868E-5" "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" "6.54461E-5" "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" "4.0816E-6" "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" "4.07637E-6" "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" "1.21931E-5" "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" "6.5029E-5" "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" "2.84451E-5" "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" "2.03163E-5" "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" "5.28859E-5" "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" "4.06507E-6" "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" "8.13312E-6" "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" "2.03181E-5" "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" "3.25142E-5" "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" "1.62595E-5" "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" "8.13001E-6" "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" "4.06312E-6" "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" "1.21893E-5" "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" "1.21855E-5" "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" "3.65556E-5" "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" "6.09216E-5" "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" "1.21885E-5" "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" "4.06068E-6" "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" "4.06233E-6" "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" "4.0622E-6" "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" "1.62477E-5" "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" "4.06296E-6" "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" "4.06322E-6" "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" "3.2546E-5" "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" "8.13703E-6" "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" "3.24984E-5" "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" "4.06108E-6" "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" "4.06114E-6" "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" "4.06567E-6" "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" "4.06306E-6" "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" "4.87563E-5" "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" "1.21827E-5" "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" "1.62437E-5" "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" "1.2183E-5" "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" "6.49831E-5" "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" "2.0311E-5" "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" "8.12189E-6" "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" "1.21819E-5" "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" "4.06068E-5" "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" "2.43657E-5" "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" "2.43671E-5" "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" "1.21827E-5" "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" "3.65467E-5" "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" "3.2487E-5" "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" "6.90355E-5" "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" "5.68523E-5" "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" "8.12394E-6" "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" "8.13101E-6" "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" "8.1217E-6" "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" "3.67326E-5" "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" "2.0333E-5" "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" "5.69323E-5" "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" "5.28382E-5" "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" "4.06716E-6" "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" "4.0653E-6" "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" "4.06511E-6" "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" "4.06293E-6" "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" "8.12526E-6" "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" "2.84403E-5" "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" "8.12678E-6" "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" "2.43803E-5" "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" "4.06425E-6" "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" "8.12896E-6" "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" "1.21939E-5" "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" "8.12929E-6" "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" "4.06736E-6" "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" "2.84516E-5" "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" "4.0656E-6" "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" "4.06623E-6" "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" "3.65892E-5" "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" "1.62541E-5" "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" "1.62602E-5" "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" "4.06501E-6" "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" "4.06593E-6" "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" "1.62623E-5" "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" "4.06524E-6" "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" "8.12975E-6" "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" "2.43896E-5" "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" "5.70037E-5" "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" "1.62841E-5" "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" "1.62843E-5" "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" "4.0664E-6" "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" "4.08033E-6" "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" "8.13875E-6" "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" "4.06679E-6" "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" "4.0712E-6" "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" "8.13961E-6" "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" "8.1369E-6" "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" "1.62612E-5" "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" "4.06855E-6" "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" "1.22088E-5" "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" "1.62583E-5" "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" "2.03239E-5" "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" "8.13041E-6" "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" "1.62878E-5" "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" "8.14531E-6" "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" "3.25219E-5" "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" "9.35598E-5" "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" "6.50264E-5" "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" "4.06445E-6" "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" "2.03148E-5" "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" "1.21864E-5" "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" "6.90922E-5" "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" "8.14744E-6" "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" "2.4481E-5" "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" "1.63099E-5" "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" "4.07256E-6" "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" "1.62819E-5" "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" "5.2855E-5" "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" "8.13107E-6" "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" "8.12651E-6" "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" "4.07461E-6" "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" "2.03922E-5" "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" "3.68152E-5" "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" "6.50105E-5" "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" "4.06293E-6" "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" "4.06279E-6" "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" "4.46722E-5" "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" "8.12374E-6" "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" "2.4371E-5" "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" "6.50068E-5" "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" "5.68787E-5" "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" "1.21864E-5" "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" "6.90524E-5" "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" "1.62475E-5" "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" "8.12414E-6" "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" "1.21962E-5" "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" "1.21984E-5" "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" "4.06547E-6" "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" "50" "15" "48703503" "48703503" "subst" "6.50068E-5" "01804" "FBN1_000238" "g.48703503T>C" "" "" "" "FBN1(NM_000138.4):c.8300A>G (p.N2767S, p.(Asn2767Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48411306T>C" "" "VUS" "" "0000554536" "0" "30" "15" "48704815" "48704815" "subst" "4.46722E-5" "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)), FBN1(NM_000138.5):c.8176C>T (p.R2726W)" "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)), FBN1(NM_000138.5):c.8176C>T (p.R2726W)" "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" "4.06458E-6" "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" "2.03326E-5" "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.(Ile2475Val), p.I2475V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48425399T>C" "" "VUS" "" "0000554549" "0" "50" "15" "48717607" "48717607" "subst" "2.03148E-5" "01804" "FBN1_000099" "g.48717607G>C" "" "" "" "FBN1(NM_000138.4):c.7412C>G (p.P2471R, p.(Pro2471Arg)), FBN1(NM_000138.5):c.7412C>G (p.P2471R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48425410G>C" "" "VUS" "" "0000554550" "0" "50" "15" "48717619" "48717619" "subst" "1.62521E-5" "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" "3.25219E-5" "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" "7.31892E-5" "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" "7.73458E-5" "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" "4.06815E-6" "01943" "FBN1_000872" "g.48719782A>G" "" "" "" "FBN1(NM_000138.4):c.7186T>C (p.F2396L), FBN1(NM_000138.5):c.7186T>C (p.(Phe2396Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48427585A>G" "" "VUS" "" "0000554557" "0" "50" "15" "48719904" "48719904" "subst" "4.07219E-6" "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" "4.88683E-5" "02327" "FBN1_000874" "g.48719912G>A" "" "" "" "FBN1(NM_000138.4):c.7056C>T (p.S2352=), FBN1(NM_000138.5):c.7056C>T (p.(Ser2352=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48427715G>A" "" "likely benign" "" "0000554559" "0" "30" "15" "48719912" "48719912" "subst" "4.88683E-5" "02329" "FBN1_000874" "g.48719912G>A" "" "" "" "FBN1(NM_000138.4):c.7056C>T (p.S2352=), FBN1(NM_000138.5):c.7056C>T (p.(Ser2352=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48427715G>A" "" "likely benign" "" "0000554560" "0" "50" "15" "48719918" "48719918" "subst" "2.44369E-5" "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" "1.62583E-5" "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" "1.21927E-5" "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.(Pro2278Ser), 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" "" "0000554568" "0" "30" "15" "48725102" "48725102" "subst" "0.000785223" "01804" "FBN1_000060" "g.48725102C>T" "" "" "" "FBN1(NM_000138.4):c.6700G>A (p.V2234M, p.(Val2234Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48432905C>T" "" "likely benign" "" "0000554569" "0" "50" "15" "48725143" "48725143" "subst" "8.13862E-6" "02329" "FBN1_000113" "g.48725143C>T" "" "" "" "FBN1(NM_000138.4):c.6659G>A (p.R2220Q), FBN1(NM_000138.5):c.6659G>A (p.(Arg2220Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48432946C>T" "" "VUS" "" "0000554571" "0" "50" "15" "48726830" "48726830" "subst" "1.62612E-5" "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" "3.66772E-5" "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" "4.0795E-6" "02329" "FBN1_000884" "g.48729584T>A" "" "" "" "FBN1(NM_000138.4):c.6314A>T (p.(Glu2105Val), p.E2105V), FBN1(NM_000138.5):c.6314A>T (p.E2105V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48437387T>A" "" "VUS" "" "0000554576" "0" "30" "15" "48729990" "48729990" "subst" "8.55251E-5" "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" "1.22062E-5" "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" "1.63026E-5" "02329" "FBN1_000124" "g.48734026C>T" "" "" "" "FBN1(NM_000138.4):c.6055G>A (p.E2019K), FBN1(NM_000138.5):c.6055G>A (p.(Glu2019Lys))" "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" "4.0664E-6" "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" "2.0334E-5" "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" "" "0000554586" "0" "70" "15" "48737605" "48737605" "subst" "0" "01804" "FBN1_000891" "g.48737605T>C" "" "" "" "FBN1(NM_000138.4):c.5885A>G (p.(Tyr1962Cys), p.Y1962C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48445408T>C" "" "likely pathogenic" "" "0000554587" "0" "30" "15" "48737714" "48737714" "subst" "4.07289E-6" "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_000138.5):c.5423-30_5423-28delCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48452714_48452716del" "" "benign" "" "0000554590" "0" "30" "15" "48748893" "48748893" "subst" "4.06564E-6" "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" "4.06564E-6" "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" "8.12665E-6" "01943" "FBN1_000898" "g.48755380C>T" "" "" "" "FBN1(NM_000138.4):c.5123G>A (p.G1708E, p.(Gly1708Glu))" "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" "" "" "" "FBN1(NM_000138.4):c.4985C>A (p.T1662K)" "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" "4.06441E-6" "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" "4.06851E-6" "02329" "FBN1_000906" "g.48760739C>T" "" "" "" "FBN1(NM_000138.4):c.4460-8G>A, FBN1(NM_000138.5):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" "1.21935E-5" "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" "2.84977E-5" "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), FBN1(NM_000138.5):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)), FBN1(NM_000138.5):c.4214T>G (p.L1405R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48472673A>C" "" "VUS" "" "0000554616" "0" "50" "15" "48764870" "48764870" "subst" "0.000109664" "01804" "FBN1_000558" "g.48764870A>C" "" "" "" "FBN1(NM_000138.4):c.4214T>G (p.L1405R, p.(Leu1405Arg)), FBN1(NM_000138.5):c.4214T>G (p.L1405R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48472673A>C" "" "VUS" "" "0000554617" "0" "30" "15" "48764870" "48764870" "subst" "0.000109664" "02327" "FBN1_000558" "g.48764870A>C" "" "" "" "FBN1(NM_000138.4):c.4214T>G (p.L1405R, p.(Leu1405Arg)), FBN1(NM_000138.5):c.4214T>G (p.L1405R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48472673A>C" "" "likely benign" "" "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)), FBN1(NM_000138.5):c.4214T>G (p.L1405R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48472673A>C" "" "likely benign" "" "0000554619" "0" "50" "15" "48766512" "48766512" "subst" "2.84403E-5" "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" "8.12394E-6" "01804" "FBN1_000911" "g.48766737T>C" "" "" "" "FBN1(NM_000138.4):c.4075A>G (p.(Ile1359Val), p.I1359V)" "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" "9.7669E-5" "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" "6.90355E-5" "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" "8.52785E-5" "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" "9.3398E-5" "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 (p.(=))" "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 (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48489845T>C" "" "benign" "" "0000554640" "0" "30" "15" "48782052" "48782052" "subst" "9.77597E-5" "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" "2.84259E-5" "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.A986T, p.(Ala986Thr))" "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.A986T, p.(Ala986Thr))" "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.A986T, p.(Ala986Thr))" "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" "8.13703E-6" "02329" "FBN1_000167" "g.48787697A>T" "" "" "" "FBN1(NM_000138.4):c.2508T>A (p.S836R), FBN1(NM_000138.5):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" "1.62477E-5" "02327" "FBN1_000719" "g.48789528C>T" "" "" "" "FBN1(NM_000138.4):c.2228G>A (p.(Arg743His))" "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" "4.06108E-6" "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" "1.62464E-5" "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" "1.62595E-5" "01943" "FBN1_000764" "g.48802279G>A" "" "" "" "FBN1(NM_000138.4):c.1676C>T (p.A559V, p.(Ala559Val))" "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)), FBN1(NM_000138.5):c.1666G>A (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)), FBN1(NM_000138.5):c.1666G>A (p.V556M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48510092C>T" "" "VUS" "" "0000554675" "0" "30" "15" "48802353" "48802353" "subst" "5.28481E-5" "02327" "FBN1_000942" "g.48802353A>G" "" "" "" "FBN1(NM_000138.4):c.1602T>C (p.C534=)" "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" "1.62537E-5" "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" "2.03211E-5" "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" "2.03163E-5" "02327" "FBN1_000180" "g.48808418G>A" "" "" "" "FBN1(NM_000138.4):c.1289C>T (p.P430L, p.(Pro430Leu))" "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" "4.0816E-6" "01943" "FBN1_000029" "g.48808532G>A" "" "" "" "FBN1(NM_000138.4):c.1175C>T (p.P392L), FBN1(NM_000138.5):c.1175C>T (p.P392L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48516335G>A" "" "likely benign" "" "0000554687" "0" "50" "15" "48808532" "48808532" "subst" "4.0816E-6" "02325" "FBN1_000029" "g.48808532G>A" "" "" "" "FBN1(NM_000138.4):c.1175C>T (p.P392L), FBN1(NM_000138.5):c.1175C>T (p.P392L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48516335G>A" "" "VUS" "" "0000554688" "0" "50" "15" "48808532" "48808532" "subst" "4.0816E-6" "02326" "FBN1_000029" "g.48808532G>A" "" "" "" "FBN1(NM_000138.4):c.1175C>T (p.P392L), FBN1(NM_000138.5):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.(Gly343=), 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" "4.06517E-6" "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" "3.65756E-5" "02325" "FBN1_000959" "g.48818452T>C" "" "" "" "FBN1(NM_000138.4):c.863A>G (p.D288G, p.(Asp288Gly)), FBN1(NM_000138.5):c.863A>G (p.D288G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48526255T>C" "" "VUS" "" "0000554703" "0" "50" "15" "48826343" "48826343" "subst" "8.1217E-6" "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" "8.12401E-6" "02327" "FBN1_000964" "g.48829972C>A" "" "" "" "FBN1(NM_000138.5):c.572G>T (p.S191I)" "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, FBN1(NM_000138.5):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, FBN1(NM_000138.5):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" "1.22172E-5" "01943" "FBN1_000087" "g.48703571C>G" "" "" "" "FBN1(NM_000138.4):c.8232G>C (p.Q2744H, p.(Gln2744His))" "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)), FBN1(NM_000138.5):c.8176C>T (p.R2726W)" "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" "6.50264E-5" "02327" "FBN1_000100" "g.48717640T>C" "" "" "" "FBN1(NM_000138.4):c.7379A>G (p.K2460R, p.(Lys2460Arg))" "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" "4.0795E-6" "02325" "FBN1_000884" "g.48729584T>A" "" "" "" "FBN1(NM_000138.4):c.6314A>T (p.(Glu2105Val), p.E2105V), FBN1(NM_000138.5):c.6314A>T (p.E2105V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48437387T>A" "" "VUS" "" "0000615367" "0" "30" "15" "48744911" "48744913" "del" "0" "02327" "FBN1_000895" "g.48744911_48744913del" "" "" "" "FBN1(NM_000138.5):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" "4.06884E-6" "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)), FBN1(NM_000138.5):c.4214T>G (p.L1405R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48472673A>C" "" "likely benign" "" "0000615373" "0" "30" "15" "48776016" "48776016" "subst" "4.06838E-6" "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=), FBN1(NM_000138.5):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" "" "0000615377" "0" "50" "15" "48789489" "48789489" "subst" "8.12275E-6" "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" "4.0622E-6" "02325" "FBN1_000721" "g.48789550T>C" "" "" "" "FBN1(NM_000138.5):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" "70" "15" "48812967" "48812967" "subst" "0" "02327" "FBN1_000799" "g.48812967A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48520770A>G" "" "likely pathogenic" "" "0000615382" "0" "50" "15" "48818452" "48818452" "subst" "3.65756E-5" "01943" "FBN1_000959" "g.48818452T>C" "" "" "" "FBN1(NM_000138.4):c.863A>G (p.D288G, p.(Asp288Gly)), FBN1(NM_000138.5):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" "1.62583E-5" "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" "8.12929E-6" "02325" "FBN1_000533" "g.48762846C>T" "" "" "" "FBN1(NM_000138.5):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" "4.07286E-6" "02325" "FBN1_000988" "g.48818478G>A" "" "" "" "FBN1(NM_000138.4):c.863-26C>T, FBN1(NM_000138.5):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" "8.1369E-6" "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" "4.0653E-6" "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" "2.03047E-5" "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" "2.03922E-5" "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" "1.21944E-5" "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_000138.5):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" "4.06068E-6" "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" "4.07541E-6" "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" "48800778" "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" "48800778" "48805866" "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" "48800778" "48805866" "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" "48712883" "48718062" "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" "2.4371E-5" "02325" "FBN1_000241" "g.48704773T>C" "" "" "" "FBN1(NM_000138.5):c.8219A>G (p.N2740S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680190" "0" "30" "15" "48720540" "48720540" "subst" "8.13385E-6" "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" "8.1369E-6" "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" "4.06981E-6" "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" "8.95109E-5" "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" "3.65663E-5" "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, FBN1(NM_000138.4):c.4337-48dupT (p.?)" "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" "1.62762E-5" "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_000138.5):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" "8.13623E-6" "01804" "FBN1_001063" "g.48729193G>C" "" "" "" "FBN1(NM_000138.4):c.6461C>G (p.(Pro2154Arg), p.P2154R)" "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), FBN1(NM_000138.5):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" "4.07628E-6" "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_000138.5):c.7193C>T (p.T2398I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725141" "0" "30" "15" "48719918" "48719918" "subst" "2.44369E-5" "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" "10" "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" "" "" "" "" "" "" "" "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" "" "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.(Gly1762Ser), p.G1762S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725149" "0" "30" "15" "48755449" "48755449" "subst" "4.88289E-5" "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" "4.06686E-6" "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" "50" "15" "48760294" "48760294" "subst" "0" "02327" "FBN1_001082" "g.48760294G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "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" "8.12163E-6" "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" "2.84259E-5" "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" "" "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" "3.6611E-5" "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" "" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "" "ACMG PP4, PM1, PP2, PM2, PM5, PP3, PP5" "Germline/De novo (untested)" "" "" "0" "" "" "g.48463123G>A" "" "pathogenic (dominant)" "ACMG" "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" "8.13703E-6" "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" "" "{PMID:Zhao 2021:34598112}" "" "" "" "Germline" "" "" "0" "" "" "g.48526185G>T" "" "pathogenic (dominant)" "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" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000790083" "0" "90" "15" "48776059" "48776059" "subst" "0" "04101" "FBN1_001100" "g.48776059C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790293" "0" "90" "15" "48738898" "48738898" "subst" "0" "04101" "FBN1_001101" "g.48738898C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000790294" "0" "90" "15" "48787671" "48787671" "subst" "0" "04101" "FBN1_001102" "g.48787671C>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000790295" "0" "90" "15" "48788302" "48788302" "subst" "0" "04101" "FBN1_000932" "g.48788302C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000790296" "0" "90" "15" "48737689" "48737689" "subst" "0" "04101" "FBN1_001103" "g.48737689C>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000790297" "0" "90" "15" "48788301" "48788301" "subst" "0" "04101" "FBN1_000046" "g.48788301A>C" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790298" "0" "90" "15" "48802297" "48802297" "subst" "0" "04101" "FBN1_001104" "g.48802297A>C" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000790299" "21" "90" "15" "48905270" "48905270" "subst" "0" "04101" "FBN1_000847" "g.48905270G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000790300" "11" "90" "15" "48829826" "48829826" "subst" "0" "04101" "FBN1_000074" "g.48829826G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790301" "21" "70" "15" "48797234" "48797234" "subst" "0" "04101" "FBN1_001107" "g.48797234G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790302" "21" "50" "15" "48766566" "48766566" "subst" "0" "04101" "FBN1_000569" "g.48766566C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790303" "0" "70" "15" "48784664" "48784664" "subst" "0" "04101" "FBN1_001105" "g.48784664A>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000790304" "21" "70" "15" "48797303" "48797303" "subst" "0" "04101" "FBN1_000750" "g.48797303G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000790305" "21" "90" "15" "48744801" "48744801" "subst" "0" "04101" "FBN1_001099" "g.48744801A>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790306" "0" "70" "15" "48802246" "48802246" "subst" "0" "04101" "FBN1_001106" "g.48802246C>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790307" "21" "70" "15" "48784708" "48784708" "subst" "0" "04101" "FBN1_001098" "g.48784708C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790308" "21" "70" "15" "48888539" "48888539" "subst" "0" "04101" "FBN1_000031" "g.48888539C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790309" "0" "90" "15" "48780625" "48780625" "subst" "0" "04101" "FBN1_001140" "g.48780625T>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Unknown" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790387" "21" "90" "15" "48905270" "48905270" "subst" "0" "04101" "FBN1_000847" "g.48905270G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790664" "21" "70" "15" "48802262" "48802262" "subst" "0" "04101" "FBN1_001158" "g.48802262G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790665" "21" "70" "15" "48764799" "48764799" "subst" "0" "04101" "FBN1_001129" "g.48764799A>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790666" "0" "70" "15" "48800889" "48800889" "subst" "0" "04101" "FBN1_001156" "g.48800889C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790667" "0" "70" "15" "48760654" "48760654" "subst" "0" "04101" "FBN1_001126" "g.48760654A>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790668" "0" "70" "15" "48802317" "48802317" "subst" "0" "04101" "FBN1_001159" "g.48802317G>C" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790669" "0" "70" "15" "48902933" "48902933" "subst" "0" "04101" "FBN1_000831" "g.48902933G>C" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "-" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000790670" "0" "70" "15" "48756179" "48756179" "subst" "0" "04101" "FBN1_001121" "g.48756179C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000790671" "0" "70" "15" "48725105" "48725105" "subst" "0" "04101" "FBN1_001110" "g.48725105G>C" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790672" "0" "70" "15" "48786405" "48786405" "subst" "0" "04101" "FBN1_001145" "g.48786405A>C" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790673" "0" "70" "15" "48802355" "48802355" "subst" "0" "04101" "FBN1_001160" "g.48802355A>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790679" "0" "70" "15" "48888569" "48888569" "subst" "0" "04101" "FBN1_001163" "g.48888569C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790692" "0" "70" "15" "48725114" "48725114" "subst" "0" "04101" "FBN1_001111" "g.48725114A>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000790693" "0" "70" "15" "48786407" "48786407" "subst" "0" "04101" "FBN1_000681" "g.48786407A>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790706" "0" "70" "15" "48760281" "48760281" "subst" "0" "04101" "FBN1_001124" "g.48760281C>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790707" "0" "70" "15" "48760188" "48760188" "subst" "0" "04101" "FBN1_001123" "g.48760188G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790708" "0" "70" "15" "48757777" "48757777" "subst" "0" "04101" "FBN1_000901" "g.48757777G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790709" "0" "70" "15" "48797278" "48797278" "subst" "0" "04101" "FBN1_001152" "g.48797278T>C" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790711" "0" "70" "15" "48905255" "48905255" "subst" "0" "04101" "FBN1_001166" "g.48905255A>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000790714" "21" "70" "15" "48779385" "48779385" "subst" "0" "04101" "FBN1_001137" "g.48779385C>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790715" "0" "70" "15" "48796043" "48796043" "subst" "0" "04101" "FBN1_001150" "g.48796043C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000790717" "11" "70" "15" "48733923" "48733923" "subst" "0" "04101" "FBN1_001114" "g.48733923C>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790747" "0" "70" "15" "48829826" "48829826" "subst" "0" "04101" "FBN1_000074" "g.48829826G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000790748" "0" "70" "15" "48766519" "48766521" "del" "0" "04101" "FBN1_001130" "g.48766519_48766521del" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "g.48474322_48474324del" "" "pathogenic" "ACMG" "0000790750" "11" "70" "15" "48905270" "48905270" "subst" "0" "04101" "FBN1_000847" "g.48905270G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790751" "11" "70" "15" "48729519" "48729519" "subst" "0" "04101" "FBN1_001112" "g.48729519C>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACGS" "0000790752" "0" "70" "15" "48782098" "48782098" "subst" "0" "04101" "FBN1_001141" "g.48782098C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790753" "0" "70" "15" "48829904" "48829904" "subst" "0" "04101" "FBN1_000811" "g.48829904C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790754" "0" "90" "15" "48700504" "48937986" "del" "0" "04101" "FBN1_001108" "g.(?_48700504)_(48937986_?)del" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "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" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790756" "20" "70" "15" "48800871" "48800871" "subst" "0" "04101" "FBN1_001155" "g.48800871C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790757" "0" "70" "15" "48788347" "48788347" "subst" "0" "04101" "FBN1_001149" "g.48788347C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790758" "0" "70" "15" "48784771" "48784771" "subst" "0" "04101" "FBN1_001144" "g.48784771C>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790759" "0" "70" "15" "48737690" "48737690" "subst" "0" "04101" "FBN1_001117" "g.48737690A>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790760" "21" "70" "15" "48757843" "48757843" "subst" "0" "04101" "FBN1_001122" "g.48757843A>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790761" "0" "90" "15" "48905270" "48905270" "subst" "0" "04101" "FBN1_000847" "g.48905270G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790762" "0" "70" "15" "48829903" "48829903" "subst" "0" "04101" "FBN1_001162" "g.48829903C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790763" "21" "90" "15" "48802322" "48802322" "subst" "0" "04101" "FBN1_000175" "g.48802322G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790764" "11" "70" "15" "48782270" "48782270" "subst" "0" "04101" "FBN1_000983" "g.48782270G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790765" "0" "70" "15" "48779317" "48779317" "subst" "0" "04101" "FBN1_001136" "g.48779317A>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790766" "0" "90" "15" "48738898" "48738898" "subst" "0" "04101" "FBN1_001101" "g.48738898C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790767" "0" "90" "15" "48829904" "48829904" "subst" "0" "04101" "FBN1_000811" "g.48829904C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790768" "11" "90" "15" "48829826" "48829826" "subst" "0" "04101" "FBN1_000074" "g.48829826G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790769" "21" "70" "15" "48734031" "48734031" "subst" "0" "04101" "FBN1_001115" "g.48734031C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790770" "0" "70" "15" "48779316" "48779316" "subst" "0" "04101" "FBN1_001135" "g.48779316C>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790771" "0" "70" "15" "48797314" "48797314" "subst" "0" "04101" "FBN1_001154" "g.48797314C>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000790772" "11" "70" "15" "48782258" "48782258" "subst" "0" "04101" "FBN1_001142" "g.48782258A>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790773" "0" "90" "15" "48905270" "48905270" "subst" "0" "04101" "FBN1_000847" "g.48905270G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790774" "0" "90" "15" "48905270" "48905270" "subst" "0" "04101" "FBN1_000847" "g.48905270G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790775" "0" "70" "15" "48762836" "48762836" "subst" "0" "04101" "FBN1_001127" "g.48762836C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000790776" "21" "70" "15" "48902965" "48902965" "subst" "0" "04101" "FBN1_001165" "g.48902965G>C" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000790777" "0" "70" "15" "48802322" "48802322" "subst" "0" "04101" "FBN1_000175" "g.48802322G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790778" "0" "70" "15" "48766566" "48766566" "subst" "0" "04101" "FBN1_000569" "g.48766566C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790780" "0" "70" "15" "48755430" "48755432" "del" "0" "04101" "FBN1_001120" "g.48755430_48755432del" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "yes" "" "0" "" "" "g.48463233_48463235del" "" "likely pathogenic" "ACMG" "0000790781" "21" "70" "15" "48787338" "48787338" "subst" "0" "04101" "FBN1_001147" "g.48787338A>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790782" "0" "70" "15" "48802262" "48802262" "subst" "0" "04101" "FBN1_001158" "g.48802262G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790783" "0" "70" "15" "48766815" "48766815" "subst" "0" "04101" "FBN1_001132" "g.48766815A>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790784" "0" "70" "15" "48780418" "48780418" "subst" "0" "04101" "FBN1_001139" "g.48780418A>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790785" "0" "70" "15" "48782269" "48782269" "subst" "0" "04101" "FBN1_001143" "g.48782269C>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790786" "0" "90" "15" "48780430" "48780430" "subst" "0" "04101" "FBN1_000640" "g.48780430C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790787" "0" "70" "15" "48780403" "48780403" "subst" "0" "04101" "FBN1_001138" "g.48780403C>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790788" "0" "70" "15" "48741009" "48741009" "subst" "0" "04101" "FBN1_000459" "g.48741009C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790789" "21" "70" "15" "48797291" "48797291" "subst" "0" "04101" "FBN1_001153" "g.48797291T>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790790" "0" "70" "15" "48807672" "48807672" "subst" "0" "04101" "FBN1_001161" "g.48807672A>C" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790791" "0" "70" "15" "48784702" "48784702" "subst" "0" "04101" "FBN1_000677" "g.48784702C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790792" "0" "90" "15" "48738898" "48738898" "subst" "0" "04101" "FBN1_001101" "g.48738898C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790793" "0" "70" "15" "48892371" "48892371" "subst" "0" "04101" "FBN1_001164" "g.48892371C>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790794" "0" "70" "15" "48729576" "48729576" "subst" "0" "04101" "FBN1_001113" "g.48729576G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "?" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790795" "0" "90" "15" "48703539" "48703539" "del" "0" "04101" "FBN1_001109" "g.48703539del" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "8264delG" "" "Germline" "yes" "" "0" "" "" "g.48411342del" "" "pathogenic" "ACMG" "0000790796" "0" "70" "15" "48787773" "48787773" "subst" "0" "04101" "FBN1_001148" "g.48787773C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790797" "11" "90" "15" "48766566" "48766566" "subst" "0" "04101" "FBN1_000569" "g.48766566C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790798" "0" "70" "15" "48760294" "48760294" "subst" "0" "04101" "FBN1_000025" "g.48760294G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790799" "0" "70" "15" "48773895" "48773895" "subst" "0" "04101" "FBN1_001134" "g.48773895A>C" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000790800" "0" "70" "15" "48766566" "48766566" "subst" "0" "04101" "FBN1_000569" "g.48766566C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790801" "0" "90" "15" "48905270" "48905270" "subst" "0" "04101" "FBN1_000847" "g.48905270G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790802" "0" "70" "15" "48800842" "48800842" "subst" "0" "04101" "FBN1_000758" "g.48800842C>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000790803" "0" "90" "15" "48829826" "48829826" "subst" "0" "04101" "FBN1_000074" "g.48829826G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790805" "11" "90" "15" "48802322" "48802322" "subst" "0" "04101" "FBN1_000175" "g.48802322G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790806" "11" "70" "15" "48802285" "48802285" "subst" "0" "04101" "FBN1_000765" "g.48802285C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000790808" "11" "70" "15" "48718026" "48718026" "subst" "0" "04101" "FBN1_000054" "g.48718026G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790810" "0" "70" "15" "48902966" "48902966" "subst" "0" "04101" "FBN1_000832" "g.48902966C>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790811" "0" "70" "15" "48786442" "48786442" "subst" "0" "04101" "FBN1_001146" "g.48786442C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790812" "21" "70" "15" "48738950" "48738950" "subst" "0" "04101" "FBN1_001119" "g.48738950C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790813" "0" "70" "15" "48797267" "48797267" "subst" "0" "04101" "FBN1_001151" "g.48797267A>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790814" "11" "70" "15" "48802246" "48802246" "subst" "0" "04101" "FBN1_001106" "g.48802246C>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790815" "0" "70" "15" "48892414" "48892414" "subst" "0" "04101" "FBN1_000829" "g.48892414G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790816" "0" "70" "15" "48779592" "48779592" "subst" "0" "04101" "FBN1_000629" "g.48779592C>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790817" "0" "70" "15" "48729544" "48729544" "subst" "4.07541E-6" "04101" "FBN1_001031" "g.48729544G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "?" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000790818" "10" "70" "15" "48807626" "48807626" "subst" "0" "04101" "FBN1_000786" "g.48807626A>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000790819" "20" "90" "15" "48780403" "48780403" "subst" "0" "04101" "FBN1_001138" "g.48780403C>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790820" "0" "70" "15" "48797234" "48797234" "subst" "0" "04101" "FBN1_000740" "g.48797234G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790821" "21" "70" "15" "48737599" "48737609" "del" "0" "04101" "FBN1_001116" "g.48737599_48737609del" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48445402_48445412del" "" "pathogenic" "ACMG" "0000790822" "0" "70" "15" "48782093" "48782093" "subst" "0" "04101" "FBN1_000077" "g.48782093C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790823" "0" "70" "15" "48787758" "48787758" "subst" "0" "04101" "FBN1_000705" "g.48787758C>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790824" "0" "70" "15" "48892344" "48892344" "subst" "0" "04101" "FBN1_000823" "g.48892344C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790825" "0" "70" "15" "48764747" "48764874" "dup" "0" "04101" "FBN1_001128" "g.(48762954_48764747)_(48764874_48766451)dup" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "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" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790827" "0" "70" "15" "48807589" "48807589" "subst" "0" "04101" "FBN1_001048" "g.48807589C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790828" "0" "70" "15" "48738909" "48738909" "subst" "0" "04101" "FBN1_001118" "g.48738909A>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000790829" "21" "70" "15" "48784702" "48784702" "subst" "0" "04101" "FBN1_000677" "g.48784702C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000790830" "0" "70" "15" "48892414" "48892414" "subst" "0" "04101" "FBN1_000829" "g.48892414G>A" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790831" "0" "70" "15" "48744800" "48744800" "subst" "0" "04101" "FBN1_000470" "g.48744800C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790832" "11" "70" "15" "48800901" "48800901" "subst" "0" "04101" "FBN1_001157" "g.48800901T>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000790833" "21" "70" "15" "48773890" "48773895" "delins" "0" "04101" "FBN1_001133" "g.48773890_48773895delinsCCGGCAAAAAATGAG" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48481693_48481698delinsCCGGCAAAAAATGAG" "" "likely pathogenic" "ACMG" "0000790834" "0" "70" "15" "48760653" "48760653" "subst" "0" "04101" "FBN1_001125" "g.48760653C>G" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000790835" "11" "70" "15" "48797336" "48797336" "subst" "0" "04101" "FBN1_000753" "g.48797336C>T" "" "{PMID:Chen 2021:34550612}, {DOI:Chen 2021:10.1002/humu.24283}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000793752" "0" "70" "15" "48741087" "48741087" "subst" "4.07628E-6" "00000" "FBN1_001073" "g.48741087C>T" "" "{PMID:Zhou-2011:21677794}" "" "c.5549G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000806719" "0" "30" "15" "48703493" "48703493" "subst" "0.000255966" "02326" "FBN1_000860" "g.48703493G>A" "" "" "" "FBN1(NM_000138.4):c.8310C>T (p.H2770=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806720" "0" "50" "15" "48707878" "48707878" "subst" "0" "02329" "FBN1_000269" "g.48707878C>T" "" "" "" "FBN1(NM_000138.4):c.7906G>A (p.G2636S), FBN1(NM_000138.5):c.7906G>A (p.G2636S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806721" "0" "30" "15" "48707882" "48707882" "subst" "0" "01943" "FBN1_001169" "g.48707882G>C" "" "" "" "FBN1(NM_000138.4):c.7902C>G (p.P2634=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806722" "0" "50" "15" "48712976" "48712976" "subst" "0" "01804" "FBN1_001170" "g.48712976C>A" "" "" "" "FBN1(NM_000138.4):c.7727G>T (p.(Arg2576Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806723" "0" "50" "15" "48713770" "48713770" "subst" "1.6361E-5" "01943" "FBN1_000093" "g.48713770C>T" "" "" "" "FBN1(NM_000138.4):c.7684G>A (p.G2562S, p.(Gly2562Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806724" "0" "30" "15" "48719870" "48719870" "subst" "0.0021012" "02329" "FBN1_001171" "g.48719870G>A" "" "" "" "FBN1(NM_000138.4):c.7098C>T (p.D2366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806725" "0" "30" "15" "48741080" "48741080" "subst" "4.07372E-6" "01943" "FBN1_001172" "g.48741080T>C" "" "" "" "FBN1(NM_000138.4):c.5556A>G (p.E1852=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806726" "0" "50" "15" "48752446" "48752446" "subst" "0" "01943" "FBN1_001173" "g.48752446C>T" "" "" "" "FBN1(NM_000138.4):c.5293G>A (p.V1765I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806727" "0" "50" "15" "48755324" "48755324" "subst" "8.12922E-6" "02327" "FBN1_001174" "g.48755324G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806728" "0" "30" "15" "48756079" "48756079" "subst" "0" "02329" "FBN1_001175" "g.48756079G>A" "" "" "" "FBN1(NM_000138.4):c.5065+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806729" "0" "90" "15" "48756183" "48756183" "del" "0" "02329" "FBN1_001176" "g.48756183del" "" "" "" "FBN1(NM_000138.4):c.4979delC (p.P1660Qfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000806730" "0" "30" "15" "48760155" "48760155" "subst" "0.000101612" "01943" "FBN1_000508" "g.48760155A>G" "" "" "" "FBN1(NM_000138.4):c.4727T>C (p.M1576T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806731" "0" "30" "15" "48773926" "48773926" "subst" "0.00119866" "01943" "FBN1_000581" "g.48773926T>C" "" "" "" "FBN1(NM_000138.4):c.3890A>G (p.E1297G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806732" "0" "70" "15" "48779563" "48779563" "subst" "8.1215E-6" "01943" "FBN1_001177" "g.48779563G>C" "" "" "" "FBN1(NM_000138.4):c.3409C>G (p.R1137G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000806733" "0" "50" "15" "48779604" "48779604" "subst" "0" "01804" "FBN1_001178" "g.48779604A>T" "" "" "" "FBN1(NM_000138.4):c.3368T>A (p.(Leu1123Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806734" "0" "90" "15" "48779635" "48779635" "subst" "0" "02329" "FBN1_001179" "g.48779635C>T" "" "" "" "FBN1(NM_000138.4):c.3338-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000806735" "0" "50" "15" "48780628" "48780628" "subst" "1.62429E-5" "02326" "FBN1_000157" "g.48780628C>T" "" "" "" "FBN1(NM_000138.4):c.3145G>A (p.G1049S), FBN1(NM_000138.5):c.3145G>A (p.(Gly1049Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806736" "0" "10" "15" "48782042" "48782042" "subst" "0.0031744" "01804" "FBN1_000921" "g.48782042T>C" "" "" "" "FBN1(NM_000138.4):c.3082+6A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000806738" "0" "50" "15" "48791234" "48791234" "subst" "8.12176E-6" "02326" "FBN1_001181" "g.48791234C>T" "" "" "" "FBN1(NM_000138.4):c.2115G>A (p.A705=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806739" "0" "30" "15" "48800725" "48800725" "subst" "0" "02329" "FBN1_001182" "g.48800725T>G" "" "" "" "FBN1(NM_000138.4):c.1837+54A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806740" "0" "50" "15" "48805755" "48805755" "subst" "0" "02327" "FBN1_001183" "g.48805755C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806741" "0" "30" "15" "48808490" "48808490" "subst" "0" "01804" "FBN1_001184" "g.48808490A>T" "" "" "" "FBN1(NM_000138.4):c.1217T>A (p.(Leu406His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806742" "0" "30" "15" "48818478" "48818478" "subst" "4.07286E-6" "02329" "FBN1_000988" "g.48818478G>A" "" "" "" "FBN1(NM_000138.4):c.863-26C>T, FBN1(NM_000138.5):c.863-26C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806743" "0" "90" "15" "48830006" "48830006" "subst" "0" "02327" "FBN1_001185" "g.48830006C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000806744" "0" "30" "15" "48892450" "48892452" "del" "0" "02329" "FBN1_001186" "g.48892450_48892452del" "" "" "" "FBN1(NM_000138.4):c.347-13_347-11delCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806745" "0" "50" "15" "48905282" "48905282" "subst" "0" "01943" "FBN1_001187" "g.48905282C>T" "" "" "" "FBN1(NM_000138.4):c.172G>A (p.V58I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000811199" "0" "70" "15" "48779343" "48779343" "subst" "0" "01741" "FBN1_001188" "g.48779343T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "" "0000812526" "0" "70" "15" "48789577" "48789577" "subst" "0" "00000" "FBN1_000725" "g.48789577A>G" "" "{PMID:Wang 2019:31106028}" "" "c.2179A>G, p.(Cys727Arg)" "error in annotation: c.2179A>G instead of T>C, heterozygous" "Germline" "?" "" "0" "" "" "g.48497380A>G" "" "likely pathogenic" "" "0000812587" "0" "90" "15" "48760606" "48760606" "dup" "0" "00000" "FBN1_001190" "g.48760606dup" "" "{PMID:Wang 2019:31106028}" "" "c.4582+3dupT, p.?" "heterozygous" "Germline" "?" "" "0" "" "" "g.48468409dup" "" "pathogenic" "" "0000812594" "3" "70" "15" "48787413" "48787413" "subst" "0" "00000" "FBN1_001193" "g.48787413A>T" "" "{PMID:Wang 2019:31106028}" "" "c.2584A>T, p.(Cys862Ser)" "error in annotation: c.2584A>T instead of T>A, Homozygous" "Germline" "?" "" "0" "" "" "g.48495216A>T" "" "likely pathogenic" "" "0000812686" "0" "90" "15" "48791236" "48791236" "subst" "0" "00000" "FBN1_001194" "g.48791236C>G" "" "{PMID:Wang 2019:31106028}" "" "c.2114-1C>G, p.?" "error in annotation: c.2114-1C>G instead of G>C, heterozygous" "Germline" "?" "" "0" "" "" "g.48499039C>G" "" "pathogenic" "" "0000812720" "0" "70" "15" "48707848" "48707848" "subst" "0" "00000" "FBN1_001189" "g.48707848A>G" "" "{PMID:Wang 2019:31106028}" "" "c.7936A>G, p.(Cys2646Arg)" "error in annotation: c.7936A>G instead of T>C, heterozygous" "Germline" "?" "" "0" "" "" "g.48415651A>G" "" "likely pathogenic" "" "0000812746" "0" "70" "15" "48802322" "48802322" "subst" "0" "00000" "FBN1_000175" "g.48802322G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1633G>A, p.(Arg545Cys)" "error in annotation: c.1633G>A instead of C>T, heterozygous" "Germline" "?" "" "0" "" "" "g.48510125G>A" "" "likely pathogenic" "" "0000812757" "0" "70" "15" "48787412" "48787412" "subst" "0" "00000" "FBN1_001192" "g.48787412C>T" "" "{PMID:Wang 2019:31106028}" "" "c.2585C>T, p.(Cys862Tyr)" "error in annotation: c.2585C>T instead of G>A, heterozygous" "Germline" "?" "" "0" "" "" "g.48495215C>T" "" "likely pathogenic" "" "0000812813" "0" "70" "15" "48764824" "48764824" "subst" "0" "00000" "FBN1_001191" "g.48764824G>C" "" "{PMID:Wang 2019:31106028}" "" "c.4260G>C, p.(Cys1420Trp)" "error in annotation: c.4260G>C instead of C>G, heterozygous" "Germline" "yes" "" "0" "" "" "g.48472627G>C" "" "likely pathogenic" "" "0000812836" "0" "70" "15" "48720553" "48720553" "subst" "0.000654546" "00000" "FBN1_000106" "g.48720553G>C" "" "{PMID:Wang 2019:31106028}" "" "c.6987G>C, p.(Asp2329Glu)" "error in annotation: c.6987G>C instead of C>G, heterozygous" "Germline" "yes" "" "0" "" "" "g.48428356G>C" "" "likely pathogenic" "" "0000814415" "0" "70" "15" "48729544" "48729544" "subst" "4.07541E-6" "00000" "FBN1_001031" "g.48729544G>A" "" "{PMID:Lenassi 2020:31848469}" "" "FBN1 c.6354C>T p.(Ile2118Ile) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.48437347G>A" "" "likely pathogenic" "ACMG" "0000814426" "0" "50" "15" "48892422" "48892422" "subst" "0" "00000" "FBN1_001195" "g.48892422C>T" "" "{PMID:Lenassi 2020:31848469}" "" "FBN1 c.356G>A p.(Cys119Tyr) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.48600225C>T" "" "VUS" "ACMG" "0000815861" "0" "70" "15" "48712990" "48712990" "subst" "0" "00006" "FBN1_001196" "g.48712990A>C" "" "{PMID:Nair 2018:30293248}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.48420793A>C" "" "likely pathogenic" "" "0000829763" "0" "70" "15" "48737572" "48741091" "del" "0" "00006" "FBN1_001198" "g.(48736858_48737572)_(48741091_48744758)del" "" "{PMID:Ellingford 2017:28378820}" "" "g.48737523_48741140del" "" "Germline" "" "" "0" "" "" "g.(48444661_48445375)_(48448894_48452561)del" "" "likely pathogenic" "" "0000829769" "0" "70" "15" "48720542" "48723000" "dup" "0" "00006" "FBN1_001197" "g.(48719971_48720542)_(48723000_48725062)dup" "" "{PMID:Ellingford 2017:28378820}" "" "g.48720493_48723049dup" "" "Germline" "" "" "0" "" "" "g.(48427774_48428345)_(48430803_48432865)dup" "" "likely pathogenic" "" "0000831127" "0" "90" "15" "48755305" "48755305" "subst" "0" "00006" "FBN1_001200" "g.48755305C>T" "" "{PMID:Zhang 2015:26377240}" "" "" "" "De novo" "" "" "0" "" "" "g.48463108C>T" "" "pathogenic" "" "0000831128" "0" "70" "15" "48755314" "48755314" "subst" "0" "00006" "FBN1_001202" "g.48755314T>A" "" "{PMID:Zhang 2015:26377240}" "" "" "" "De novo" "" "" "0" "" "" "g.48463117T>A" "" "likely pathogenic" "" "0000831129" "0" "70" "15" "48755305" "48755305" "subst" "0" "00006" "FBN1_001201" "g.48755305C>A" "" "{PMID:Zhang 2015:26377240}" "" "" "" "De novo" "" "" "0" "" "" "g.48463108C>A" "" "likely pathogenic" "" "0000831130" "0" "70" "15" "48752496" "48752496" "subst" "0" "00006" "FBN1_001199" "g.48752496C>A" "" "{PMID:Zhang 2015:26377240}" "" "" "" "De novo" "" "" "0" "" "" "g.48460299C>A" "" "likely pathogenic" "" "0000831672" "0" "50" "15" "48782151" "48782151" "subst" "2.84259E-5" "00006" "FBN1_000923" "g.48782151G>A" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000831681" "1" "90" "15" "48936935" "48936935" "subst" "0" "00006" "FBN1_000203" "g.48936935A>C" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48644738A>C" "" "pathogenic" "" "0000831682" "1" "70" "15" "48892339" "48892339" "subst" "0" "00006" "FBN1_000966" "g.48892339G>A" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48600142G>A" "" "likely pathogenic" "" "0000831683" "1" "70" "15" "48818329" "48818329" "dup" "0" "00006" "FBN1_000956" "g.48818329dup" "34/255 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48526132dup" "" "likely pathogenic" "" "0000831684" "1" "90" "15" "48789579" "48789579" "subst" "0" "00006" "FBN1_000935" "g.48789579T>C" "35/255 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48497382T>C" "" "pathogenic" "" "0000831685" "1" "90" "15" "48787352" "48787352" "subst" "0" "00006" "FBN1_000164" "g.48787352G>A" "13/80 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48495155G>A" "" "pathogenic" "" "0000831686" "1" "70" "15" "48787337" "48787337" "subst" "0" "00006" "FBN1_000928" "g.48787337C>T" "11/80 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48495140C>T" "" "likely pathogenic" "" "0000831687" "1" "90" "15" "48787329" "48787329" "subst" "0" "00006" "FBN1_000927" "g.48787329A>G" "3/255 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48495132A>G" "" "pathogenic" "" "0000831688" "1" "90" "15" "48782177" "48782177" "subst" "0" "00006" "FBN1_000665" "g.48782177C>T" "3/255 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48489980C>T" "" "pathogenic" "" "0000831689" "1" "70" "15" "48780621" "48780621" "subst" "0" "00006" "FBN1_000918" "g.48780621A>C" "2/255 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48488424A>C" "" "likely pathogenic" "" "0000831690" "1" "90" "15" "48779599" "48779599" "subst" "0" "00006" "FBN1_000916" "g.48779599G>A" "4/255 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48487402G>A" "" "pathogenic" "" "0000831691" "1" "90" "15" "48756174" "48756174" "subst" "0" "00006" "FBN1_000496" "g.48756174A>G" "3/255 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48463977A>G" "" "pathogenic" "" "0000831692" "1" "70" "15" "48756146" "48756146" "del" "0" "00006" "FBN1_000900" "g.48756146del" "2/255 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48463949del" "" "likely pathogenic" "" "0000831693" "1" "90" "15" "48738992" "48738992" "subst" "0" "00006" "FBN1_000129" "g.48738992C>G" "1/255 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48446795C>G" "" "pathogenic" "" "0000831694" "0" "70" "15" "48736744" "48736744" "subst" "0" "00006" "FBN1_000888" "g.48736744A>G" "2/255 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "De novo" "" "" "0" "" "" "g.48444547A>G" "" "likely pathogenic" "" "0000831695" "0" "70" "15" "48720598" "48720598" "subst" "0" "00006" "FBN1_000876" "g.48720598G>C" "4/255 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "De novo" "" "" "0" "" "" "g.48428401G>C" "" "likely pathogenic" "" "0000831696" "1" "90" "15" "48712995" "48712995" "subst" "0" "00006" "FBN1_000287" "g.48712995C>T" "2/255 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48420798C>T" "" "pathogenic" "" "0000831697" "1" "70" "15" "48704804" "48704804" "subst" "0" "00006" "FBN1_000089" "g.48704804G>A" "1/255 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48412607G>A" "" "likely pathogenic" "" "0000831698" "1" "70" "15" "48703224" "48703225" "dup" "0" "00006" "FBN1_000859" "g.48703224_48703225dup" "21/255 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48411027_48411028dup" "" "likely pathogenic" "" "0000831738" "1" "50" "15" "48818416" "48818416" "subst" "4.06204E-6" "00006" "FBN1_000187" "g.48818416T>C" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48526219T>C" "" "VUS" "" "0000831739" "1" "50" "15" "48805757" "48805757" "subst" "0" "00006" "FBN1_000943" "g.48805757G>A" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48513560G>A" "" "VUS" "" "0000831740" "1" "50" "15" "48797297" "48797297" "subst" "1.62464E-5" "00006" "FBN1_000939" "g.48797297C>T" "8/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48505100C>T" "" "VUS" "" "0000831741" "1" "50" "15" "48786439" "48786439" "subst" "0" "00006" "FBN1_000925" "g.48786439C>T" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48494242C>T" "" "VUS" "" "0000831742" "1" "50" "15" "48760629" "48760629" "subst" "0" "00006" "FBN1_000905" "g.48760629G>A" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48468432G>A" "" "VUS" "" "0000831743" "1" "50" "15" "48748893" "48748893" "subst" "4.06564E-6" "00006" "FBN1_000896" "g.48748893C>G" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48456696C>G" "" "VUS" "" "0000831744" "11" "50" "15" "48734026" "48734026" "subst" "1.63026E-5" "00006" "FBN1_000124" "g.48734026C>T" "6/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48441829C>T" "" "VUS" "" "0000831745" "1" "50" "15" "48729277" "48729277" "subst" "3.66772E-5" "00006" "FBN1_000883" "g.48729277T>C" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48437080T>C" "" "VUS" "" "0000831746" "21" "50" "15" "48729205" "48729205" "subst" "0" "00006" "FBN1_000882" "g.48729205C>T" "4/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48437008C>T" "" "VUS" "" "0000831747" "1" "50" "15" "48719904" "48719904" "subst" "4.07219E-6" "00006" "FBN1_000873" "g.48719904C>T" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48427707C>T" "" "VUS" "" "0000831748" "0" "50" "15" "48718025" "48718025" "subst" "3.25219E-5" "00006" "FBN1_000319" "g.48718025C>T" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48425828C>T" "" "VUS" "" "0000831749" "1" "50" "15" "48717640" "48717640" "subst" "6.50264E-5" "00006" "FBN1_000100" "g.48717640T>C" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48425443T>C" "" "VUS" "" "0000831750" "1" "50" "15" "48717619" "48717619" "subst" "1.62521E-5" "00006" "FBN1_000868" "g.48717619T>C" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48425422T>C" "" "VUS" "" "0000831751" "1" "50" "15" "48717596" "48717596" "subst" "0" "00006" "FBN1_000867" "g.48717596T>C" "49/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48425399T>C" "" "VUS" "" "0000831752" "1" "50" "15" "48717581" "48717581" "subst" "0" "00006" "FBN1_000866" "g.48717581C>T" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48425384C>T" "" "VUS" "" "0000831753" "1" "50" "15" "48703571" "48703571" "subst" "1.22172E-5" "00006" "FBN1_000087" "g.48703571C>G" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48411374C>G" "" "VUS" "" "0000831811" "1" "50" "15" "48738915" "48738915" "subst" "0" "00006" "FBN1_000128" "g.48738915T>C" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.48446718T>C" "" "VUS" "" "0000837194" "0" "90" "15" "48788341" "48788341" "subst" "0" "00006" "FBN1_000708" "g.48788341C>A" "" "{PMID:Sheng 2015:26040324}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000846489" "0" "90" "15" "48779601" "48779601" "subst" "0" "03779" "FBN1_001203" "g.48779601C>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000854054" "0" "50" "15" "48703380" "48703380" "subst" "0" "02327" "FBN1_001204" "g.48703380T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854055" "0" "30" "15" "48704879" "48704879" "subst" "0" "01943" "FBN1_001205" "g.48704879T>C" "" "" "" "FBN1(NM_000138.4):c.8113A>G (p.M2705V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854056" "0" "70" "15" "48725078" "48725078" "subst" "1.22088E-5" "01804" "FBN1_000110" "g.48725078G>A" "" "" "" "FBN1(NM_000138.4):c.6724C>T (p.R2242C, p.(Arg2242Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000854057" "0" "50" "15" "48725143" "48725143" "subst" "8.13862E-6" "01943" "FBN1_000113" "g.48725143C>T" "" "" "" "FBN1(NM_000138.4):c.6659G>A (p.R2220Q), FBN1(NM_000138.5):c.6659G>A (p.(Arg2220Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854058" "0" "50" "15" "48737648" "48737648" "subst" "4.47817E-5" "01943" "FBN1_001207" "g.48737648T>C" "" "" "" "FBN1(NM_000138.4):c.5842A>G (p.I1948V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854059" "0" "30" "15" "48744862" "48744862" "subst" "9.75824E-5" "02326" "FBN1_000017" "g.48744862G>A" "" "" "" "FBN1(NM_000138.4):c.5442C>T (p.N1814=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854060" "0" "30" "15" "48755269" "48755269" "subst" "0" "01943" "FBN1_001211" "g.48755269T>C" "" "" "" "FBN1(NM_000138.4):c.5224+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854061" "0" "70" "15" "48755359" "48755359" "subst" "0" "02327" "FBN1_001212" "g.48755359G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000854062" "0" "90" "15" "48758017" "48758017" "subst" "0" "02326" "FBN1_001213" "g.48758017G>A" "" "" "" "FBN1(NM_000138.4):c.4786C>T (p.R1596*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854063" "0" "90" "15" "48758017" "48758017" "subst" "0" "02329" "FBN1_001213" "g.48758017G>A" "" "" "" "FBN1(NM_000138.4):c.4786C>T (p.R1596*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854064" "0" "90" "15" "48782270" "48782270" "subst" "0" "02327" "FBN1_000983" "g.48782270G>A" "" "" "" "FBN1(NM_000138.4):c.2860C>T (p.R954C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854065" "0" "90" "15" "48787385" "48787385" "subst" "0" "02326" "FBN1_001216" "g.48787385A>C" "" "" "" "FBN1(NM_000138.4):c.2612T>G (p.L871*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854066" "0" "90" "15" "48789507" "48789507" "subst" "0" "02329" "FBN1_001217" "g.48789507C>T" "" "" "" "FBN1(NM_000138.4):c.2249G>A (p.C750Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854067" "0" "90" "15" "48789518" "48789518" "subst" "0" "02329" "FBN1_001218" "g.48789518A>T" "" "" "" "FBN1(NM_000138.4):c.2238T>A (p.Y746*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854068" "0" "70" "15" "48802240" "48802240" "subst" "0" "02326" "FBN1_001219" "g.48802240C>T" "" "" "" "FBN1(NM_000138.4):c.1714+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000854069" "0" "30" "15" "48808430" "48808430" "subst" "4.06369E-5" "01804" "FBN1_001220" "g.48808430G>A" "" "" "" "FBN1(NM_000138.4):c.1277C>T (p.(Pro426Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854070" "0" "90" "15" "48829923" "48829926" "del" "0" "02326" "FBN1_001221" "g.48829923_48829926del" "" "" "" "FBN1(NM_000138.4):c.618_621delAACG (p.K206Nfs*123)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000863870" "0" "30" "15" "48703503" "48703503" "subst" "6.50068E-5" "01943" "FBN1_000238" "g.48703503T>C" "" "" "" "FBN1(NM_000138.4):c.8300A>G (p.N2767S, p.(Asn2767Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863871" "0" "50" "15" "48704884" "48704884" "subst" "0" "02329" "FBN1_000249" "g.48704884C>A" "" "" "" "FBN1(NM_000138.4):c.8108G>T (p.G2703V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863872" "0" "50" "15" "48712934" "48712934" "subst" "0" "01943" "FBN1_000285" "g.48712934C>T" "" "" "" "FBN1(NM_000138.4):c.7769G>A (p.C2590Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863873" "0" "30" "15" "48717619" "48717619" "subst" "1.62521E-5" "02327" "FBN1_000868" "g.48717619T>C" "" "" "" "FBN1(NM_000138.4):c.7400A>G (p.Q2467R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863874" "0" "90" "15" "48718062" "48718062" "subst" "0" "02329" "FBN1_001206" "g.48718062C>G" "" "" "" "FBN1(NM_000138.4):c.7205-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000863875" "0" "30" "15" "48720608" "48720608" "subst" "2.03239E-5" "02325" "FBN1_000344" "g.48720608C>T" "" "" "" "FBN1(NM_000138.5):c.6932G>A (p.(Arg2311His), p.R2311H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863876" "0" "30" "15" "48720652" "48720652" "subst" "0.029553" "01804" "FBN1_000058" "g.48720652C>T" "" "" "" "FBN1(NM_000138.4):c.6888G>A (p.(=), p.Q2296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863877" "0" "30" "15" "48722907" "48722907" "subst" "0.00252386" "01804" "FBN1_000108" "g.48722907G>A" "" "" "" "FBN1(NM_000138.4):c.6832C>T (p.(Pro2278Ser), p.P2278S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863878" "0" "30" "15" "48744553" "48744553" "del" "0" "02329" "FBN1_001208" "g.48744553del" "" "" "" "FBN1(NM_000138.4):c.5545+206delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863879" "0" "30" "15" "48744769" "48744769" "subst" "0" "01943" "FBN1_001209" "g.48744769T>C" "" "" "" "FBN1(NM_000138.4):c.5535A>G (p.G1845=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863880" "0" "50" "15" "48744850" "48744850" "subst" "0" "01804" "FBN1_001210" "g.48744850G>C" "" "" "" "FBN1(NM_000138.4):c.5454C>G (p.(Cys1818Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863881" "0" "50" "15" "48755380" "48755380" "subst" "8.12665E-6" "01804" "FBN1_000898" "g.48755380C>T" "" "" "" "FBN1(NM_000138.4):c.5123G>A (p.G1708E, p.(Gly1708Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863882" "0" "30" "15" "48777608" "48777608" "subst" "0.000950277" "01804" "FBN1_001214" "g.48777608C>T" "" "" "" "FBN1(NM_000138.4):c.3675G>A (p.(Pro1225=), p.P1225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863883" "0" "30" "15" "48780650" "48780650" "subst" "8.12236E-6" "01804" "FBN1_001215" "g.48780650G>A" "" "" "" "FBN1(NM_000138.4):c.3123C>T (p.(His1041=), p.H1041=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863884" "0" "30" "15" "48787793" "48787793" "subst" "0.000260275" "01943" "FBN1_000215" "g.48787793A>G" "" "" "" "FBN1(NM_000138.4):c.2420-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863885" "0" "10" "15" "48812974" "48812974" "subst" "0.00144659" "01804" "FBN1_000952" "g.48812974C>T" "" "" "" "FBN1(NM_000138.4):c.1029G>A (p.(Gly343=), p.G343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863886" "0" "90" "15" "48888539" "48888539" "subst" "0" "02329" "FBN1_000031" "g.48888539C>T" "" "" "" "FBN1(NM_000138.4):c.479G>A (p.C160Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000863887" "0" "90" "15" "48902952" "48902952" "del" "0" "02325" "FBN1_001222" "g.48902952del" "" "" "" "FBN1(NM_000138.4):c.319delA (p.(Ile107fs)), FBN1(NM_000138.5):c.319delA (p.I107*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000863888" "0" "30" "15" "48902965" "48902965" "subst" "0.00377317" "01804" "FBN1_000033" "g.48902965G>A" "" "" "" "FBN1(NM_000138.4):c.306C>T (p.C102=, p.(Cys102=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000870613" "0" "90" "15" "48713848" "48713848" "subst" "0" "01233" "FBN1_000294" "g.48713848C>T" "" "" "" "7606G>A (Gly2536Arg)" "Analysis of RNA extracted from fibroblasts of another patient with the same FBN1 variant showed activation of a cryptic acceptor site, leading to a 37 nt deletion in the mutant mRNA. The mutant mRNA was unstable (non-sense-mediated mRNA decay)." "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000870706" "0" "90" "15" "48713848" "48713848" "subst" "0" "01233" "FBN1_000294" "g.48713848C>T" "" "" "" "7606G>A (Gly2536Arg)" "analysis RNA extracted from fibroblasts showed activation of a cryptic acceptor site, leading to a 37 nt deletion; the variant mRNA was unstable (non-sense-mediated mRNA decay)" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000873591" "0" "70" "15" "48892393" "48892393" "subst" "0" "00000" "FBN1_001223" "g.48892393A>G" "206" "{PMID:Sun 2018:30076350}" "" "FBN1(NM_000138.4):c.385T>C(p.C129R)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.48600196A>G" "" "likely pathogenic" "" "0000873604" "0" "70" "15" "48737651" "48737651" "subst" "0" "00000" "FBN1_000438" "g.48737651A>G" "214" "{PMID:Sun 2018:30076350}" "" "FBN1 (NM_000138.4):c.5839T>C(p.C1947R)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.48445454A>G" "" "likely pathogenic" "" "0000878769" "0" "50" "15" "48737642" "48737642" "subst" "0" "01741" "FBN1_001224" "g.48737642T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "" "0000881165" "0" "90" "15" "48719928" "48719929" "del" "0" "02300" "FBN1_001227" "g.48719928_48719929del" "" "{PMID:Marinakis 2021:34008892}" "" "c.7039_7040delAT" "ACMG PVS1, PM2, PP5" "Germline/De novo (untested)" "" "rs794728319" "0" "" "" "g.48427731_48427732del" "" "pathogenic (dominant)" "ACMG" "0000881166" "0" "70" "15" "48714265" "48714265" "subst" "0" "02300" "FBN1_000306" "g.48714265T>C" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PP3, PP2, PP4" "Germline/De novo (untested)" "" "rs1085307921" "0" "" "" "g.48422068T>C" "" "likely pathogenic (dominant)" "ACMG" "0000881167" "0" "70" "15" "48748945" "48748945" "subst" "1.629E-5" "02300" "FBN1_001230" "g.48748945G>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PP2, PP3" "Germline/De novo (untested)" "" "rs767884599" "0" "" "" "g.48456748G>A" "" "likely pathogenic (dominant)" "ACMG" "0000881168" "0" "90" "15" "48712991" "48712991" "subst" "0" "02300" "FBN1_001226" "g.48712991C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PM5, PP2, PP3, PP4, PP5" "Germline/De novo (untested)" "" "rs1555394153" "0" "" "" "g.48420794C>T" "" "pathogenic (dominant)" "ACMG" "0000881169" "0" "70" "15" "48755430" "48755432" "del" "0" "02300" "FBN1_001120" "g.48755430_48755432del" "" "{PMID:Marinakis 2021:34008892}" "" "c.5076_5078delAAG" "ACMG PM1, PM2, PM4, PP3" "De novo" "" "rs1555396789" "0" "" "" "g.48463233_48463235del" "" "likely pathogenic (dominant)" "ACMG" "0000881170" "11" "90" "15" "48703477" "48703477" "subst" "4.06388E-5" "02300" "FBN1_001225" "g.48703477G>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PVS1, PP3, PP5" "Germline" "" "rs137854466" "0" "" "" "g.48411280G>A" "" "pathogenic (dominant)" "ACMG" "0000881276" "0" "70" "15" "48729587" "48729587" "del" "0" "02300" "FBN1_001229" "g.48729587del" "" "{PMID:Marinakis 2021:34008892}" "" "c.6314-3delC" "ACMG PS2, PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.48437390del" "" "likely pathogenic (dominant)" "ACMG" "0000881277" "0" "70" "15" "48802286" "48802286" "subst" "0" "02300" "FBN1_001233" "g.48802286A>G" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PM5, PP2, PP3, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.48510089A>G" "" "likely pathogenic (dominant)" "ACMG" "0000881278" "0" "70" "15" "48729274" "48729274" "subst" "0" "02300" "FBN1_001228" "g.48729274T>C" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PM5, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.48437077T>C" "" "likely pathogenic (dominant)" "ACMG" "0000881279" "0" "90" "15" "48784785" "48784785" "subst" "0" "02300" "FBN1_001232" "g.48784785T>C" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PVS1, PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.48492588T>C" "" "pathogenic (dominant)" "ACMG" "0000881280" "0" "90" "15" "48784785" "48784785" "subst" "0" "02300" "FBN1_001232" "g.48784785T>C" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PVS1, PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.48492588T>C" "" "pathogenic (dominant)" "ACMG" "0000881281" "0" "90" "15" "48760192" "48760193" "ins" "0" "02300" "FBN1_001231" "g.48760192_48760193insACAA" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PVS1, PM1, PM2" "De novo" "" "" "0" "" "" "g.48467995_48467996insACAA" "" "pathogenic (dominant)" "ACMG" "0000892102" "0" "50" "15" "48703245" "48703245" "subst" "4.06623E-6" "01804" "FBN1_001234" "g.48703245T>G" "" "" "" "FBN1(NM_000138.4):c.8558A>C (p.(Tyr2853Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892103" "0" "90" "15" "48703477" "48703477" "subst" "4.06388E-5" "02329" "FBN1_001225" "g.48703477G>A" "" "" "" "FBN1(NM_000138.4):c.8326C>T (p.R2776*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892104" "0" "30" "15" "48703481" "48703481" "subst" "0" "02329" "FBN1_001235" "g.48703481C>T" "" "" "" "FBN1(NM_000138.4):c.8322G>A (p.K2774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892105" "0" "70" "15" "48707772" "48707772" "subst" "0" "02329" "FBN1_001236" "g.48707772A>G" "" "" "" "FBN1(NM_000138.4):c.8012T>C (p.L2671P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892106" "0" "30" "15" "48719757" "48719757" "subst" "7.73458E-5" "02329" "FBN1_000056" "g.48719757G>C" "" "" "" "FBN1(NM_000138.4):c.7204+7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892107" "0" "30" "15" "48720553" "48720553" "subst" "0.000654546" "01804" "FBN1_000106" "g.48720553G>C" "" "" "" "FBN1(NM_000138.4):c.6987C>G (p.D2329E, p.(Asp2329Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892108" "0" "10" "15" "48720553" "48720553" "subst" "0.000654546" "02326" "FBN1_000106" "g.48720553G>C" "" "" "" "FBN1(NM_000138.4):c.6987C>G (p.D2329E, p.(Asp2329Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892109" "0" "50" "15" "48726806" "48726806" "subst" "2.43879E-5" "02325" "FBN1_001237" "g.48726806T>C" "" "" "" "FBN1(NM_000138.5):c.6601A>G (p.M2201V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892110" "0" "50" "15" "48729161" "48729161" "subst" "4.06961E-6" "01804" "FBN1_001238" "g.48729161C>A" "" "" "" "FBN1(NM_000138.4):c.6493G>T (p.(Val2165Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892111" "0" "70" "15" "48729193" "48729193" "subst" "8.13623E-6" "02329" "FBN1_001063" "g.48729193G>C" "" "" "" "FBN1(NM_000138.4):c.6461C>G (p.(Pro2154Arg), p.P2154R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892112" "0" "30" "15" "48729294" "48729294" "del" "0" "02326" "FBN1_001239" "g.48729294del" "" "" "" "FBN1(NM_000138.4):c.6380-13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892113" "0" "90" "15" "48729576" "48729576" "subst" "0" "02329" "FBN1_001113" "g.48729576G>A" "" "" "" "FBN1(NM_000138.4):c.6322C>T (p.R2108C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892114" "0" "30" "15" "48729599" "48729599" "subst" "0.000228726" "02329" "FBN1_001240" "g.48729599C>T" "" "" "" "FBN1(NM_000138.4):c.6314-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892115" "0" "90" "15" "48737626" "48737626" "subst" "0" "02329" "FBN1_001241" "g.48737626T>G" "" "" "" "FBN1(NM_000138.4):c.5864A>C (p.Q1955P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892116" "0" "90" "15" "48752455" "48752455" "subst" "0" "01804" "FBN1_000481" "g.48752455C>T" "" "" "" "FBN1(NM_000138.4):c.5284G>A (p.(Gly1762Ser), p.G1762S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892117" "0" "50" "15" "48757759" "48757759" "subst" "0" "02327" "FBN1_000135" "g.48757759A>G" "" "" "" "FBN1(NM_000138.4):c.4942+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892118" "0" "50" "15" "48757812" "48757812" "subst" "2.03184E-5" "02326" "FBN1_001242" "g.48757812C>T" "" "" "" "FBN1(NM_000138.4):c.4895G>A (p.R1632H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892119" "0" "90" "15" "48760193" "48760193" "subst" "0" "02329" "FBN1_001243" "g.48760193G>C" "" "" "" "FBN1(NM_000138.4):c.4689C>G (p.C1563W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892120" "0" "50" "15" "48764814" "48764814" "subst" "0.00019497" "02325" "FBN1_000552" "g.48764814G>C" "" "" "" "FBN1(NM_000138.4):c.4270C>G (p.P1424A), FBN1(NM_000138.5):c.4270C>G (p.P1424A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892121" "0" "30" "15" "48764870" "48764870" "subst" "0.000109664" "02329" "FBN1_000558" "g.48764870A>C" "" "" "" "FBN1(NM_000138.4):c.4214T>G (p.L1405R, p.(Leu1405Arg)), FBN1(NM_000138.5):c.4214T>G (p.L1405R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892122" "0" "90" "15" "48776128" "48776128" "subst" "0" "02326" "FBN1_000595" "g.48776128C>T" "" "" "" "FBN1(NM_000138.4):c.3725G>A (p.C1242Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892123" "0" "10" "15" "48779530" "48779530" "subst" "0.0310706" "02326" "FBN1_000043" "g.48779530G>C" "" "" "" "FBN1(NM_000138.4):c.3442C>G (p.(Pro1148Ala), p.P1148A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892124" "0" "50" "15" "48779569" "48779569" "subst" "2.03049E-5" "02329" "FBN1_001244" "g.48779569T>C" "" "" "" "FBN1(NM_000138.4):c.3403A>G (p.S1135G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892125" "0" "30" "15" "48780291" "48780291" "subst" "4.06121E-6" "02326" "FBN1_001245" "g.48780291C>T" "" "" "" "FBN1(NM_000138.4):c.3337+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892126" "0" "30" "15" "48780650" "48780650" "subst" "8.12236E-6" "02329" "FBN1_001215" "g.48780650G>A" "" "" "" "FBN1(NM_000138.4):c.3123C>T (p.(His1041=), p.H1041=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892127" "0" "50" "15" "48782203" "48782203" "subst" "0.000109646" "02325" "FBN1_000671" "g.48782203C>T" "" "" "" "FBN1(NM_000138.5):c.2927G>A (p.R976H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892128" "0" "30" "15" "48787793" "48787793" "subst" "0.000260275" "02329" "FBN1_000215" "g.48787793A>G" "" "" "" "FBN1(NM_000138.4):c.2420-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892129" "0" "50" "15" "48797302" "48797302" "subst" "3.65556E-5" "02329" "FBN1_000749" "g.48797302C>T" "" "" "" "FBN1(NM_000138.4):c.1880G>A (p.R627H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892130" "0" "30" "15" "48807681" "48807681" "subst" "0.000418699" "02326" "FBN1_001246" "g.48807681G>C" "" "" "" "FBN1(NM_000138.4):c.1371C>G (p.R457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892131" "0" "50" "15" "48808437" "48808437" "subst" "0" "02326" "FBN1_001247" "g.48808437G>T" "" "" "" "FBN1(NM_000138.4):c.1270C>A (p.Q424K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892132" "0" "30" "15" "48808491" "48808491" "subst" "0" "02326" "FBN1_001248" "g.48808491G>C" "" "" "" "FBN1(NM_000138.4):c.1216C>G (p.L406V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892133" "0" "90" "15" "48818405" "48818405" "subst" "0" "02329" "FBN1_001249" "g.48818405A>G" "" "" "" "FBN1(NM_000138.4):c.910T>C (p.C304R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892134" "0" "50" "15" "48818452" "48818452" "subst" "3.65756E-5" "01804" "FBN1_000959" "g.48818452T>C" "" "" "" "FBN1(NM_000138.4):c.863A>G (p.D288G, p.(Asp288Gly)), FBN1(NM_000138.5):c.863A>G (p.D288G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892135" "0" "30" "15" "48818478" "48818478" "subst" "4.07286E-6" "02326" "FBN1_000988" "g.48818478G>A" "" "" "" "FBN1(NM_000138.4):c.863-26C>T, FBN1(NM_000138.5):c.863-26C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892136" "0" "90" "15" "48902939" "48902939" "subst" "0" "02329" "FBN1_001250" "g.48902939C>A" "" "" "" "FBN1(NM_000138.4):c.332G>T (p.C111F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892137" "0" "30" "15" "48903014" "48903014" "subst" "0" "02327" "FBN1_001251" "g.48903014C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892138" "0" "30" "15" "48937156" "48937157" "del" "0" "02329" "FBN1_001252" "g.48937156_48937157del" "" "" "" "FBN1(NM_000138.4):c.-181-7_-181-6delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000902329" "0" "50" "15" "48803583" "48803583" "subst" "0" "03779" "FBN1_001253" "g.48803583C>A" "" "" "" "" "" "Unknown" "" "rs1342142271" "0" "" "" "" "" "VUS" "" "0000908420" "0" "70" "15" "48784646" "48784661" "del" "0" "03779" "FBN1_001254" "g.48784646_48784661del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000914301" "0" "30" "15" "48704910" "48704910" "subst" "0" "02329" "FBN1_000861" "g.48704910T>G" "" "" "" "FBN1(NM_000138.4):c.8082A>C (p.R2694=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914302" "0" "30" "15" "48720553" "48720553" "subst" "0.000654546" "02329" "FBN1_000106" "g.48720553G>C" "" "" "" "FBN1(NM_000138.4):c.6987C>G (p.D2329E, p.(Asp2329Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914303" "0" "90" "15" "48726844" "48726844" "subst" "0" "02329" "FBN1_001255" "g.48726844A>C" "" "" "" "FBN1(NM_000138.4):c.6563T>G (p.F2188C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914304" "0" "90" "15" "48726913" "48726913" "subst" "0" "02329" "FBN1_001256" "g.48726913G>C" "" "" "" "FBN1(NM_000138.4):c.6497-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914305" "0" "70" "15" "48729226" "48729226" "subst" "0" "02329" "FBN1_001257" "g.48729226A>T" "" "" "" "FBN1(NM_000138.4):c.6428T>A (p.I2143N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914306" "0" "90" "15" "48738898" "48738898" "subst" "0" "02329" "FBN1_001258" "g.48738898C>A" "" "" "" "FBN1(NM_000138.4):c.5788+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914307" "0" "30" "15" "48748978" "48748978" "subst" "2.86259E-5" "02326" "FBN1_001259" "g.48748978T>C" "" "" "" "FBN1(NM_000138.4):c.5297-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914308" "0" "10" "15" "48777608" "48777608" "subst" "0.000950277" "02329" "FBN1_001214" "g.48777608C>T" "" "" "" "FBN1(NM_000138.4):c.3675G>A (p.(Pro1225=), p.P1225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914309" "0" "90" "15" "48786406" "48786406" "subst" "0" "02329" "FBN1_001260" "g.48786406C>T" "" "" "" "FBN1(NM_000138.4):c.2723G>A (p.C908Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914310" "0" "90" "15" "48791179" "48791179" "del" "0" "02329" "FBN1_001261" "g.48791179del" "" "" "" "FBN1(NM_000138.4):c.2167+4delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914311" "0" "30" "15" "48796194" "48796194" "dup" "0" "02329" "FBN1_001262" "g.48796194dup" "" "" "" "FBN1(NM_000138.4):c.1961-53dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914312" "0" "50" "15" "48807650" "48807650" "subst" "0" "01804" "FBN1_001263" "g.48807650T>C" "" "" "" "FBN1(NM_000138.4):c.1402A>G (p.(Thr468Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914313" "0" "30" "15" "48808495" "48808495" "subst" "0" "02329" "FBN1_001264" "g.48808495T>G" "" "" "" "FBN1(NM_000138.4):c.1212A>C (p.P404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914314" "0" "50" "15" "48829976" "48829976" "subst" "0" "01804" "FBN1_001265" "g.48829976T>A" "" "" "" "FBN1(NM_000138.4):c.568A>T (p.(Ile190Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914315" "0" "10" "15" "48936811" "48936811" "subst" "0.0158343" "02325" "FBN1_000199" "g.48936811C>A" "" "" "" "FBN1(NM_000138.4):c.156G>T (p.A52=), FBN1(NM_000138.5):c.156G>T (p.A52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000920348" "1" "50" "15" "48780311" "48780311" "subst" "0" "00006" "FBN1_001266" "g.48780311C>T" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "potential disease-modifying variant" "Germline" "" "" "0" "" "" "g.48488114C>T" "" "VUS" "ACMG" "0000921541" "1" "90" "15" "48805843" "48805843" "subst" "0" "00006" "FBN1_001267" "g.48805843G>C" "" "{PMID:Li 2016:27307692}" "" "" "" "Germline" "" "" "0" "" "" "g.48513646G>C" "" "pathogenic" "" "0000925970" "0" "30" "15" "48703571" "48703571" "subst" "1.22172E-5" "02329" "FBN1_000087" "g.48703571C>G" "" "" "" "FBN1(NM_000138.4):c.8232G>C (p.Q2744H, p.(Gln2744His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925971" "0" "90" "15" "48714186" "48714186" "subst" "0" "02329" "FBN1_001268" "g.48714186A>C" "" "" "" "FBN1(NM_000138.4):c.7533T>G (p.C2511W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925972" "0" "50" "15" "48717607" "48717607" "subst" "2.03148E-5" "02325" "FBN1_000099" "g.48717607G>C" "" "" "" "FBN1(NM_000138.4):c.7412C>G (p.P2471R, p.(Pro2471Arg)), FBN1(NM_000138.5):c.7412C>G (p.P2471R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925973" "0" "30" "15" "48722768" "48722768" "subst" "0" "02329" "FBN1_001269" "g.48722768T>C" "" "" "" "FBN1(NM_000138.4):c.6871+100A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925974" "0" "30" "15" "48722905" "48722905" "subst" "0.000126002" "02329" "FBN1_000879" "g.48722905G>A" "" "" "" "FBN1(NM_000138.4):c.6834C>T (p.P2278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925975" "0" "90" "15" "48725140" "48725140" "subst" "0" "02329" "FBN1_001270" "g.48725140C>T" "" "" "" "FBN1(NM_000138.4):c.6662G>A (p.C2221Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925976" "0" "30" "15" "48729261" "48729261" "subst" "0.00111175" "02326" "FBN1_000120" "g.48729261G>A" "" "" "" "FBN1(NM_000138.4):c.6393C>T (p.C2131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925977" "0" "70" "15" "48736776" "48736776" "subst" "0" "02327" "FBN1_001271" "g.48736776C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000925978" "0" "30" "15" "48757802" "48757802" "subst" "8.12896E-6" "02329" "FBN1_001272" "g.48757802G>A" "" "" "" "FBN1(NM_000138.4):c.4905C>T (p.T1635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925979" "0" "90" "15" "48760207" "48760207" "subst" "0" "02329" "FBN1_001273" "g.48760207T>A" "" "" "" "FBN1(NM_000138.4):c.4675A>T (p.K1559*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925980" "0" "30" "15" "48775873" "48775873" "subst" "0" "02329" "FBN1_001274" "g.48775873G>A" "" "" "" "FBN1(NM_000138.4):c.3838+142C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925981" "0" "50" "15" "48777583" "48777583" "subst" "0" "02326" "FBN1_001275" "g.48777583T>C" "" "" "" "FBN1(NM_000138.4):c.3700A>G (p.R1234G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925982" "0" "30" "15" "48779939" "48779939" "subst" "0" "02329" "FBN1_001276" "g.48779939C>A" "" "" "" "FBN1(NM_000138.4):c.3338-305G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925983" "0" "30" "15" "48784981" "48784981" "subst" "0" "02329" "FBN1_001277" "g.48784981A>C" "" "" "" "FBN1(NM_000138.4):c.2729-198T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925984" "0" "30" "15" "48789415" "48789415" "subst" "0.000385987" "02329" "FBN1_001278" "g.48789415G>A" "" "" "" "FBN1(NM_000138.4):c.2293+48C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925985" "0" "30" "15" "48800603" "48800603" "subst" "0" "02329" "FBN1_001279" "g.48800603T>C" "" "" "" "FBN1(NM_000138.4):c.1837+176A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925986" "0" "30" "15" "48808114" "48808114" "subst" "0" "02329" "FBN1_001280" "g.48808114C>T" "" "" "" "FBN1(NM_000138.4):c.1327+266G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925987" "0" "30" "15" "48818133" "48818133" "subst" "0" "02329" "FBN1_001281" "g.48818133C>T" "" "" "" "FBN1(NM_000138.4):c.988+194G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925988" "0" "30" "15" "48826608" "48826608" "subst" "0" "02329" "FBN1_001282" "g.48826608T>A" "" "" "" "FBN1(NM_000138.4):c.737-206A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925989" "0" "30" "15" "48902965" "48902965" "subst" "0.00377317" "02326" "FBN1_000033" "g.48902965G>A" "" "" "" "FBN1(NM_000138.4):c.306C>T (p.C102=, p.(Cys102=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927509" "0" "70" "15" "48777606" "48777606" "subst" "0" "03256" "FBN1_001283" "g.48777606C>A" "" "{PMID:Topyıldız 2023:37114700}, {DOI:Topyıldız 2023:10.24953/turkjped.2022.637}" "" "" "" "Germline" "" "" "0" "" "" "g.48485409C>A" "" "pathogenic" "" "0000930389" "0" "50" "15" "48707878" "48707878" "subst" "0" "02325" "FBN1_000269" "g.48707878C>T" "" "" "" "FBN1(NM_000138.4):c.7906G>A (p.G2636S), FBN1(NM_000138.5):c.7906G>A (p.G2636S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930390" "0" "30" "15" "48718036" "48718036" "subst" "7.31892E-5" "02326" "FBN1_000870" "g.48718036G>A" "" "" "" "FBN1(NM_000138.4):c.7230C>T (p.H2410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930391" "0" "30" "15" "48719787" "48719787" "subst" "8.1361E-6" "02326" "FBN1_001284" "g.48719787C>T" "" "" "" "FBN1(NM_000138.4):c.7181G>A (p.R2394Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930392" "0" "90" "15" "48719835" "48719835" "subst" "0" "02329" "FBN1_001285" "g.48719835C>G" "" "" "" "FBN1(NM_000138.4):c.7133G>C (p.C2378S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930393" "0" "90" "15" "48725187" "48725187" "subst" "0" "02329" "FBN1_001286" "g.48725187T>C" "" "" "" "FBN1(NM_000138.4):c.6617-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930394" "0" "30" "15" "48729237" "48729237" "subst" "4.06981E-6" "02329" "FBN1_001052" "g.48729237A>G" "" "" "" "FBN1(NM_000138.4):c.6417T>C (p.H2139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930395" "0" "50" "15" "48729576" "48729576" "subst" "0" "02327" "FBN1_001113" "g.48729576G>A" "" "" "" "FBN1(NM_000138.4):c.6322C>T (p.R2108C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930396" "0" "90" "15" "48734034" "48734034" "dup" "0" "02329" "FBN1_001287" "g.48734034dup" "" "" "" "FBN1(NM_000138.4):c.6047dupA (p.C2017Vfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930397" "0" "30" "15" "48740661" "48740661" "subst" "0" "02329" "FBN1_001288" "g.48740661C>T" "" "" "" "FBN1(NM_000138.4):c.5671+304G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930398" "0" "30" "15" "48755406" "48755406" "subst" "3.25018E-5" "02325" "FBN1_001289" "g.48755406G>A" "" "" "" "FBN1(NM_000138.5):c.5097C>T (p.Y1699=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930399" "0" "30" "15" "48780494" "48780494" "subst" "0" "02329" "FBN1_001290" "g.48780494C>T" "" "" "" "FBN1(NM_000138.4):c.3209-56G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930400" "0" "90" "15" "48782270" "48782270" "subst" "0" "02329" "FBN1_000983" "g.48782270G>A" "" "" "" "FBN1(NM_000138.4):c.2860C>T (p.R954C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930401" "0" "50" "15" "48786451" "48786451" "subst" "4.06835E-6" "02327" "FBN1_001291" "g.48786451T>C" "" "" "" "FBN1(NM_000138.4):c.2678A>G (p.D893G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930402" "0" "50" "15" "48789548" "48789548" "subst" "4.06237E-6" "02325" "FBN1_001292" "g.48789548A>C" "" "" "" "FBN1(NM_000138.4):c.2208T>G (p.(Asn736Lys)), FBN1(NM_000138.5):c.2208T>G (p.N736K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930403" "0" "30" "15" "48789789" "48789789" "subst" "0" "02329" "FBN1_001293" "g.48789789G>C" "" "" "" "FBN1(NM_000138.4):c.2168-201C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930404" "0" "30" "15" "48795731" "48795731" "subst" "0" "02329" "FBN1_001294" "g.48795731G>A" "" "" "" "FBN1(NM_000138.4):c.2113+253C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950354" "0" "90" "15" "48712949" "48712949" "subst" "1.62819E-5" "02329" "FBN1_000213" "g.48712949A>G" "" "" "" "FBN1(NM_000138.4):c.7754T>C (p.I2585T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950355" "0" "30" "15" "48713644" "48713644" "dup" "0" "02329" "FBN1_001295" "g.48713644dup" "" "" "" "FBN1(NM_000138.4):c.7699+116dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950356" "0" "50" "15" "48717607" "48717607" "subst" "2.03148E-5" "02326" "FBN1_000099" "g.48717607G>C" "" "" "" "FBN1(NM_000138.4):c.7412C>G (p.P2471R, p.(Pro2471Arg)), FBN1(NM_000138.5):c.7412C>G (p.P2471R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950357" "0" "90" "15" "48720012" "48720012" "subst" "0" "02329" "FBN1_001296" "g.48720012T>C" "" "" "" "FBN1(NM_000138.4):c.6998-42A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950358" "0" "30" "15" "48720187" "48720187" "subst" "0" "02329" "FBN1_001297" "g.48720187G>A" "" "" "" "FBN1(NM_000138.4):c.6998-217C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950359" "0" "50" "15" "48722920" "48722920" "subst" "2.84477E-5" "02329" "FBN1_001298" "g.48722920C>T" "" "" "" "FBN1(NM_000138.4):c.6819G>A (p.M2273I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950360" "0" "30" "15" "48725284" "48725284" "subst" "0" "02329" "FBN1_001299" "g.48725284A>G" "" "" "" "FBN1(NM_000138.4):c.6617-99T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950361" "0" "30" "15" "48727190" "48727190" "subst" "0" "02329" "FBN1_001300" "g.48727190C>T" "" "" "" "FBN1(NM_000138.4):c.6497-280G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950362" "0" "30" "15" "48729688" "48729688" "subst" "0" "02329" "FBN1_001301" "g.48729688T>C" "" "" "" "FBN1(NM_000138.4):c.6314-104A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950363" "0" "30" "15" "48729990" "48729990" "subst" "8.55251E-5" "02326" "FBN1_000885" "g.48729990G>A" "" "" "" "FBN1(NM_000138.4):c.6288C>T (p.C2096=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950364" "0" "50" "15" "48734026" "48734026" "subst" "1.63026E-5" "02327" "FBN1_000124" "g.48734026C>T" "" "" "" "FBN1(NM_000138.4):c.6055G>A (p.E2019K), FBN1(NM_000138.5):c.6055G>A (p.(Glu2019Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950365" "0" "90" "15" "48737605" "48737605" "subst" "0" "02329" "FBN1_000891" "g.48737605T>C" "" "" "" "FBN1(NM_000138.4):c.5885A>G (p.(Tyr1962Cys), p.Y1962C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950366" "0" "90" "15" "48748885" "48748885" "subst" "0" "02329" "FBN1_001302" "g.48748885A>T" "" "" "" "FBN1(NM_000138.4):c.5371T>A (p.C1791S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950367" "0" "30" "15" "48749069" "48749070" "ins" "0" "02329" "FBN1_001303" "g.48749069_48749070insTGTGTGTGTGTGCGCG" "" "" "" "FBN1(NM_000138.4):c.5297-110_5297-109insGCGCACACACACACAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950368" "0" "30" "15" "48755549" "48755549" "subst" "0" "02329" "FBN1_001304" "g.48755549G>A" "" "" "" "FBN1(NM_000138.4):c.5066-112C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950369" "0" "10" "15" "48763008" "48763008" "dup" "0" "02329" "FBN1_001057" "g.48763008dup" "" "" "" "FBN1(NM_000138.4):c.4337-48dupT, FBN1(NM_000138.4):c.4337-48dupT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950370" "0" "30" "15" "48766276" "48766276" "subst" "0" "02329" "FBN1_001305" "g.48766276G>A" "" "" "" "FBN1(NM_000138.4):c.4210+176C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950371" "0" "30" "15" "48766441" "48766441" "subst" "4.46828E-5" "02326" "FBN1_001306" "g.48766441C>T" "" "" "" "FBN1(NM_000138.4):c.4210+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950372" "0" "30" "15" "48777906" "48777906" "subst" "0" "02329" "FBN1_001307" "g.48777906G>A" "" "" "" "FBN1(NM_000138.4):c.3590-213C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950373" "0" "30" "15" "48779083" "48779083" "subst" "0" "02329" "FBN1_001308" "g.48779083T>C" "" "" "" "FBN1(NM_000138.4):c.3589+189A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950374" "0" "30" "15" "48780287" "48780287" "subst" "0.000300522" "02329" "FBN1_001309" "g.48780287T>G" "" "" "" "FBN1(NM_000138.4):c.3337+23A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950375" "0" "70" "15" "48787340" "48787340" "subst" "0" "02329" "FBN1_000687" "g.48787340G>A" "" "" "" "FBN1(NM_000138.4):c.2657C>T (p.(Pro886Leu), p.P886L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950376" "0" "30" "15" "48787772" "48787772" "subst" "4.06858E-6" "02329" "FBN1_001310" "g.48787772G>A" "" "" "" "FBN1(NM_000138.4):c.2433C>T (p.C811=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950377" "0" "30" "15" "48796165" "48796165" "subst" "8.95437E-5" "02329" "FBN1_001311" "g.48796165A>G" "" "" "" "FBN1(NM_000138.4):c.1961-29T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950378" "0" "90" "15" "48800815" "48800815" "subst" "0" "02329" "FBN1_001312" "g.48800815C>A" "" "" "" "FBN1(NM_000138.4):c.1801G>T (p.G601*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950379" "0" "30" "15" "48801080" "48801080" "subst" "0" "02329" "FBN1_001313" "g.48801080C>T" "" "" "" "FBN1(NM_000138.4):c.1715-179G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950380" "0" "30" "15" "48805631" "48805631" "subst" "0" "02329" "FBN1_001314" "g.48805631G>A" "" "" "" "FBN1(NM_000138.4):c.1588+115C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950381" "0" "90" "15" "48805791" "48805791" "subst" "0" "02329" "FBN1_001315" "g.48805791A>G" "" "" "" "FBN1(NM_000138.4):c.1543T>C (p.C515R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950382" "0" "50" "15" "48808413" "48808413" "subst" "0" "02329" "FBN1_001316" "g.48808413C>T" "" "" "" "FBN1(NM_000138.4):c.1294G>A (p.V432M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950383" "0" "30" "15" "48808735" "48808735" "subst" "0" "02329" "FBN1_001317" "g.48808735C>T" "" "" "" "FBN1(NM_000138.4):c.1148-176G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950384" "0" "50" "15" "48826355" "48826355" "subst" "0" "02326" "FBN1_001318" "g.48826355A>C" "" "" "" "FBN1(NM_000138.4):c.784T>G (p.C262G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950385" "0" "50" "15" "48829825" "48829825" "subst" "4.06577E-6" "02329" "FBN1_001319" "g.48829825C>T" "" "" "" "FBN1(NM_000138.4):c.719G>A (p.R240H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950386" "0" "30" "15" "48888679" "48888679" "subst" "0" "02329" "FBN1_001320" "g.48888679C>T" "" "" "" "FBN1(NM_000138.4):c.443-104G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000953785" "0" "30" "15" "48764834" "48764834" "subst" "8.12348E-6" "03779" "FBN1_001321" "g.48764834T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs768531262" "0" "" "" "" "" "likely benign" "" "0000954357" "0" "70" "15" "48892423" "48892423" "subst" "0" "00006" "FBN1_001369" "g.48892423A>G" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM5, PS4_supporting, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48600226A>G" "" "likely pathogenic (dominant)" "ACMG" "0000954358" "0" "70" "15" "48888558" "48888558" "subst" "0" "00006" "FBN1_001368" "g.48888558A>G" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM5, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48596361A>G" "" "likely pathogenic (dominant)" "ACMG" "0000954359" "0" "70" "15" "48805791" "48805791" "subst" "0" "00006" "FBN1_001365" "g.48805791A>C" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1_strong, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48513594A>C" "" "likely pathogenic (dominant)" "ACMG" "0000954360" "0" "70" "15" "48802276" "48802276" "subst" "0" "00006" "FBN1_001364" "g.48802276C>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM5, PS4_supporting, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48510079C>T" "" "likely pathogenic (dominant)" "ACMG" "0000954361" "0" "70" "15" "48797298" "48797298" "subst" "0" "00006" "FBN1_001362" "g.48797298G>C" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1_strong, PM2_supporting, PP2, PP4" "Germline" "" "" "0" "" "" "g.48505101G>C" "" "likely pathogenic (dominant)" "ACMG" "0000954362" "0" "70" "15" "48787412" "48787412" "subst" "0" "00006" "FBN1_001192" "g.48787412C>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM5, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48495215C>T" "" "likely pathogenic (dominant)" "ACMG" "0000954363" "0" "70" "15" "48787370" "48787370" "subst" "0" "00006" "FBN1_001358" "g.48787370C>G" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PS1, PM1, PM5, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48495173C>G" "" "likely pathogenic (dominant)" "ACMG" "0000954364" "0" "70" "15" "48779593" "48779593" "subst" "0" "00006" "FBN1_001356" "g.48779593C>A" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM5, PS4_supporting, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48487396C>A" "" "likely pathogenic (dominant)" "ACMG" "0000954365" "0" "70" "15" "48777633" "48777633" "subst" "0" "00006" "FBN1_001355" "g.48777633C>A" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM5, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48485436C>A" "" "likely pathogenic (dominant)" "ACMG" "0000954366" "0" "70" "15" "48773924" "48773924" "subst" "0" "00006" "FBN1_001354" "g.48773924T>G" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM2_supporting, PP1, PP2, PP3" "Germline" "" "" "0" "" "" "g.48481727T>G" "" "likely pathogenic (dominant)" "ACMG" "0000954367" "0" "70" "15" "48762953" "48762953" "subst" "0" "00006" "FBN1_001353" "g.48762953T>C" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PP1_strong, PM1, PM5, PS4_supporting, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48470756T>C" "" "likely pathogenic (dominant)" "ACMG" "0000954368" "0" "70" "15" "48762902" "48762902" "subst" "0" "00006" "FBN1_001351" "g.48762902T>G" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM5, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48470705T>G" "" "likely pathogenic (dominant)" "ACMG" "0000954369" "0" "70" "15" "48757883" "48757891" "del" "0" "00006" "FBN1_001349" "g.48757883_48757891del" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM4, PM2_supporting, PP1, PP4" "Germline" "" "" "0" "" "" "g.48465686_48465694del" "" "likely pathogenic (dominant)" "ACMG" "0000954370" "0" "70" "15" "48756179" "48756179" "subst" "0" "00006" "FBN1_001121" "g.48756179C>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM5, PS4_supporting, PM2_supporting, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.48463982C>T" "" "likely pathogenic (dominant)" "ACMG" "0000954371" "0" "70" "15" "48748951" "48748951" "subst" "0" "00006" "FBN1_000897" "g.48748951C>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PS4_supporting, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48456754C>T" "" "likely pathogenic (dominant)" "ACMG" "0000954372" "0" "70" "15" "48748834" "48748834" "subst" "0" "00006" "FBN1_001345" "g.48748834C>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM5, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48456637C>T" "" "likely pathogenic (dominant)" "ACMG" "0000954373" "0" "70" "15" "48744873" "48744873" "subst" "4.06593E-6" "00006" "FBN1_000475" "g.48744873C>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PS4_moderate, PM1, PM2_supporting PP2, PP3" "Germline" "" "" "0" "" "" "g.48452676C>T" "" "likely pathogenic (dominant)" "ACMG" "0000954374" "0" "70" "15" "48744873" "48744873" "subst" "4.06593E-6" "00006" "FBN1_000475" "g.48744873C>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PS4_moderate, PM1, PM2_supporting PP2, PP3" "Germline" "" "" "0" "" "" "g.48452676C>T" "" "likely pathogenic (dominant)" "ACMG" "0000954375" "0" "70" "15" "48741000" "48741000" "subst" "0" "00006" "FBN1_001343" "g.48741000C>A" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM5, PM2_supporting, PP1, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.48448803C>A" "" "likely pathogenic (dominant)" "ACMG" "0000954376" "0" "70" "15" "48741000" "48741000" "subst" "0" "00006" "FBN1_001343" "g.48741000C>A" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM5, PM2_supporting, PP1, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.48448803C>A" "" "likely pathogenic (dominant)" "ACMG" "0000954377" "0" "70" "15" "48741000" "48741000" "subst" "0" "00006" "FBN1_001343" "g.48741000C>A" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM5, PM2_supporting, PP1, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.48448803C>A" "" "likely pathogenic (dominant)" "ACMG" "0000954378" "0" "70" "15" "48739011" "48739011" "subst" "0" "00006" "FBN1_000455" "g.48739011C>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PS4_supporting, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48446814C>T" "" "likely pathogenic (dominant)" "ACMG" "0000954379" "0" "70" "15" "48729567" "48729567" "subst" "0" "00006" "FBN1_001342" "g.48729567A>G" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PS4_moderate, PM1, PM5, PM2_supporting, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.48437370A>G" "" "likely pathogenic (dominant)" "ACMG" "0000954380" "0" "70" "15" "48729566" "48729566" "subst" "0" "00006" "FBN1_001341" "g.48729566C>A" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM5, PM2_supporting, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.48437369C>A" "" "likely pathogenic (dominant)" "ACMG" "0000954381" "0" "70" "15" "48729274" "48729274" "subst" "0" "00006" "FBN1_001340" "g.48729274T>A" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM5, PS4_supporting, PM2_supporting, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.48437077T>A" "" "likely pathogenic (dominant)" "ACMG" "0000954382" "0" "70" "15" "48729265" "48729265" "subst" "0" "00006" "FBN1_001339" "g.48729265T>A" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PS2, PM1, PM5, PM2_supporting, PP2, PP3, PP4" "De novo" "" "" "0" "" "" "g.48437068T>A" "" "likely pathogenic (dominant)" "ACMG" "0000954383" "0" "70" "15" "48729206" "48729206" "subst" "8.1369E-6" "00006" "FBN1_000393" "g.48729206G>A" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM5, PS4_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48437009G>A" "" "likely pathogenic (dominant)" "ACMG" "0000954384" "0" "70" "15" "48729164" "48729164" "subst" "0" "00006" "FBN1_001338" "g.48729164A>G" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1_strong, PM2_supporting, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.48436967A>G" "" "likely pathogenic (dominant)" "ACMG" "0000954385" "0" "70" "15" "48725133" "48725133" "subst" "0" "00006" "FBN1_001337" "g.48725133G>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM5, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48432936G>T" "" "likely pathogenic (dominant)" "ACMG" "0000954386" "0" "70" "15" "48725133" "48725133" "subst" "0" "00006" "FBN1_001337" "g.48725133G>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM5, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48432936G>T" "" "likely pathogenic (dominant)" "ACMG" "0000954387" "0" "70" "15" "48725095" "48725095" "subst" "0" "00006" "FBN1_000365" "g.48725095T>C" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM2_supporting, PP1, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.48432898T>C" "" "likely pathogenic (dominant)" "ACMG" "0000954388" "0" "70" "15" "48719953" "48719953" "subst" "0" "00006" "FBN1_001333" "g.48719953A>C" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM5, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48427756A>C" "" "likely pathogenic (dominant)" "ACMG" "0000954389" "0" "70" "15" "48719953" "48719953" "subst" "0" "00006" "FBN1_001333" "g.48719953A>C" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM5, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48427756A>C" "" "likely pathogenic (dominant)" "ACMG" "0000954390" "0" "70" "15" "48717987" "48717987" "subst" "0" "00006" "FBN1_001332" "g.48717987A>C" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1_strong, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48425790A>C" "" "likely pathogenic (dominant)" "ACMG" "0000954391" "0" "70" "15" "48713817" "48713817" "subst" "0" "00006" "FBN1_001328" "g.48713817C>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM5, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48421620C>T" "" "likely pathogenic (dominant)" "ACMG" "0000954392" "0" "70" "15" "48713801" "48713806" "del" "0" "00006" "FBN1_001327" "g.48713801_48713806del" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1 strong, PM4, PS2_supporting, PM2_supporting" "De novo" "" "" "0" "" "" "g.48421604_48421609del" "" "likely pathogenic (dominant)" "ACMG" "0000954393" "0" "70" "15" "48707964" "48707964" "subst" "0" "00006" "FBN1_001325" "g.48707964T>A" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM5, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48415767T>A" "" "likely pathogenic (dominant)" "ACMG" "0000954394" "0" "70" "15" "48707772" "48707772" "subst" "0" "00006" "FBN1_001236" "g.48707772A>G" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PP1_moderate, PM2_supporting, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.48415575A>G" "" "likely pathogenic (dominant)" "ACMG" "0000954395" "0" "70" "15" "48707764" "48707764" "subst" "0" "00006" "FBN1_001324" "g.48707764A>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1_strong, PM2_supporting, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.48415567A>T" "" "likely pathogenic (dominant)" "ACMG" "0000954396" "0" "70" "15" "48704840" "48704840" "subst" "0" "00006" "FBN1_001322" "g.48704840A>C" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM5, PS2_supporting, PM2_supporting, PP2, PP3" "De novo" "" "" "0" "" "" "g.48412643A>C" "" "likely pathogenic (dominant)" "ACMG" "0000954397" "0" "70" "15" "48703425" "48703425" "subst" "0" "00006" "FBN1_000233" "g.48703425T>C" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM5, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48411228T>C" "" "likely pathogenic (dominant)" "ACMG" "0000954398" "0" "50" "15" "48905284" "48905284" "subst" "0" "00006" "FBN1_001370" "g.48905284T>A" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM5, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48613087T>A" "" "VUS" "ACMG" "0000954399" "0" "50" "15" "48800808" "48800808" "subst" "0" "00006" "FBN1_001363" "g.48800808T>G" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM2_supporting, PP2" "Germline" "" "" "0" "" "" "g.48508611T>G" "" "VUS" "ACMG" "0000954400" "0" "50" "15" "48787701" "48787701" "subst" "0" "00006" "FBN1_001361" "g.48787701T>A" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM2_supporting, PP2" "Germline" "" "" "0" "" "" "g.48495504T>A" "" "VUS" "ACMG" "0000954401" "0" "50" "15" "48787455" "48787455" "subst" "0" "00006" "FBN1_001360" "g.48787455T>C" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM5, PM2_supporting, PP2" "Germline" "" "" "0" "" "" "g.48495258T>C" "" "VUS" "ACMG" "0000954402" "0" "50" "15" "48787418" "48787418" "subst" "4.06121E-6" "00006" "FBN1_001359" "g.48787418C>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM2_supporting, PP2" "Germline" "" "" "0" "" "" "g.48495221C>T" "" "VUS" "ACMG" "0000954403" "0" "50" "15" "48787346" "48787346" "subst" "0" "00006" "FBN1_001357" "g.48787346C>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48495149C>T" "" "VUS" "ACMG" "0000954404" "0" "50" "15" "48782087" "48782087" "subst" "2.0311E-5" "00006" "FBN1_000660" "g.48782087C>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM5, PP2" "Germline" "" "" "0" "" "" "g.48489890C>T" "" "VUS" "ACMG" "0000954405" "0" "50" "15" "48773971" "48773971" "subst" "5.28382E-5" "00006" "FBN1_000585" "g.48773971T>C" "" "{PMID:Yoon 2023:37558401}" "" "" "" "Germline" "" "" "0" "" "" "g.48481774T>C" "" "VUS" "ACMG" "0000954406" "0" "50" "15" "48762945" "48762945" "subst" "0" "00006" "FBN1_001352" "g.48762945C>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48470748C>T" "" "VUS" "ACMG" "0000954407" "0" "50" "15" "48757765" "48757765" "subst" "0" "00006" "FBN1_000500" "g.48757765C>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM1, PM2_supporting, PP2" "Germline" "" "" "0" "" "" "g.48465568C>T" "" "VUS" "ACMG" "0000954408" "0" "50" "15" "48752489" "48752500" "del" "0" "00006" "FBN1_001347" "g.48752489_48752500del" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM4, PM2_supporting" "Germline" "" "" "0" "" "" "g.48460292_48460303del" "" "VUS" "ACMG" "0000954409" "0" "50" "15" "48748887" "48748887" "subst" "0" "00006" "FBN1_001346" "g.48748887C>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM5, PM2_supporting, PP2" "Germline" "" "" "0" "" "" "g.48456690C>T" "" "VUS" "ACMG" "0000954410" "0" "50" "15" "48741040" "48741040" "subst" "3.66303E-5" "00006" "FBN1_001344" "g.48741040T>C" "" "{PMID:Yoon 2023:37558401}" "" "" "" "Germline" "" "" "0" "" "" "g.48448843T>C" "" "VUS" "ACMG" "0000954411" "0" "50" "15" "48741040" "48741040" "subst" "3.66303E-5" "00006" "FBN1_001344" "g.48741040T>C" "" "{PMID:Yoon 2023:37558401}" "" "" "" "Germline" "" "" "0" "" "" "g.48448843T>C" "" "VUS" "ACMG" "0000954412" "0" "50" "15" "48741040" "48741040" "subst" "3.66303E-5" "00006" "FBN1_001344" "g.48741040T>C" "" "{PMID:Yoon 2023:37558401}" "" "" "" "Germline" "" "" "0" "" "" "g.48448843T>C" "" "VUS" "ACMG" "0000954413" "0" "50" "15" "48741040" "48741040" "subst" "3.66303E-5" "00006" "FBN1_001344" "g.48741040T>C" "" "{PMID:Yoon 2023:37558401}" "" "" "" "Germline" "" "" "0" "" "" "g.48448843T>C" "" "VUS" "ACMG" "0000954414" "0" "50" "15" "48725098" "48725098" "subst" "0" "00006" "FBN1_001336" "g.48725098C>A" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM2_supporting, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.48432901C>A" "" "VUS" "ACMG" "0000954415" "0" "50" "15" "48725077" "48725077" "subst" "1.62764E-5" "00006" "FBN1_001335" "g.48725077C>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM5, PP2" "Germline" "" "" "0" "" "" "g.48432880C>T" "" "VUS" "ACMG" "0000954416" "0" "50" "15" "48713824" "48713824" "subst" "0" "00006" "FBN1_001329" "g.48713824T>G" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM2_supporting, PP2, PP3" "Germline" "" "" "0" "" "" "g.48421627T>G" "" "VUS" "ACMG" "0000954417" "0" "50" "15" "48704923" "48704923" "subst" "3.2505E-5" "00006" "FBN1_001323" "g.48704923A>C" "" "{PMID:Yoon 2023:37558401}" "" "" "" "Germline" "" "" "0" "" "" "g.48412726A>C" "" "VUS" "ACMG" "0000954418" "0" "70" "15" "48760739" "48760739" "subst" "4.06851E-6" "00006" "FBN1_000906" "g.48760739C>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PS4_moderate, PM4, PM2_supporting, PP1" "Germline" "" "" "0" "" "" "g.48468542C>T" "" "likely pathogenic (dominant)" "ACMG" "0000954419" "0" "70" "15" "48760309" "48760309" "subst" "0" "00006" "FBN1_001350" "g.48760309A>C" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PVS1, PM2_supporting, PP4" "Germline" "" "" "0" "" "" "g.48468112A>C" "" "likely pathogenic (dominant)" "ACMG" "0000954420" "0" "50" "15" "48813020" "48813020" "subst" "8.13326E-6" "00006" "FBN1_001367" "g.48813020G>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM2_supporting" "Germline" "" "" "0" "" "" "g.48520823G>T" "" "VUS" "ACMG" "0000954421" "0" "50" "15" "48808572" "48808572" "subst" "0" "00006" "FBN1_001366" "g.48808572A>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM2_supporting, PP3" "Germline" "" "" "0" "" "" "g.48516375A>T" "" "VUS" "ACMG" "0000954422" "0" "50" "15" "48752517" "48752517" "subst" "0" "00006" "FBN1_001348" "g.48752517G>C" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM2_supporting, PP3" "Germline" "" "" "0" "" "" "g.48460320G>C" "" "VUS" "ACMG" "0000954423" "0" "50" "15" "48720682" "48720682" "subst" "0" "00006" "FBN1_001334" "g.48720682T>C" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PS4_supporting, PM2_supporting, PP3" "Germline" "" "" "0" "" "" "g.48428485T>C" "" "VUS" "ACMG" "0000954424" "0" "50" "15" "48714138" "48714138" "subst" "4.06537E-6" "00006" "FBN1_001330" "g.48714138C>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM2_supporting, BP4" "Germline" "" "" "0" "" "" "g.48421941C>T" "" "VUS" "ACMG" "0000954425" "0" "50" "15" "48712879" "48712879" "subst" "0" "00006" "FBN1_001326" "g.48712879C>T" "" "{PMID:Yoon 2023:37558401}" "" "" "ACMG PM2_supporting, PP3" "Germline" "" "" "0" "" "" "g.48420682C>T" "" "VUS" "ACMG" "0000954798" "11" "50" "15" "48714160" "48714160" "subst" "4.06521E-5" "00006" "FBN1_001331" "g.48714160G>A" "" "{PMID:Fan 2020:32883240}" "" "" "" "Germline" "" "" "0" "" "" "g.48421963G>A" "" "VUS" "" "0000957419" "0" "70" "15" "48780403" "48780403" "subst" "0" "00006" "FBN1_001138" "g.48780403C>A" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48488206C>A" "" "likely pathogenic (dominant)" "" "0000957420" "21" "70" "15" "48780403" "48780403" "subst" "0" "00006" "FBN1_001138" "g.48780403C>A" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48488206C>A" "" "likely pathogenic (dominant)" "" "0000957478" "0" "50" "15" "48714160" "48714160" "subst" "4.06521E-5" "00006" "FBN1_001331" "g.48714160G>A" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "no" "rs763759308" "0" "" "" "g.48421963G>A" "rs763759308" "VUS" "" "0000957516" "0" "50" "15" "48714160" "48714160" "subst" "4.06521E-5" "00006" "FBN1_001331" "g.48714160G>A" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "no" "rs763759308" "0" "" "" "g.48421963G>A" "rs763759308" "VUS" "" "0000957517" "0" "50" "15" "48714160" "48714160" "subst" "4.06521E-5" "00006" "FBN1_001331" "g.48714160G>A" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "no" "rs763759308" "0" "" "" "g.48421963G>A" "rs763759308" "VUS" "" "0000967795" "0" "30" "15" "48703493" "48703493" "subst" "0.000255966" "02329" "FBN1_000860" "g.48703493G>A" "" "" "" "FBN1(NM_000138.4):c.8310C>T (p.H2770=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967796" "0" "30" "15" "48704816" "48704816" "subst" "0.000722878" "02329" "FBN1_000246" "g.48704816G>A" "" "" "" "FBN1(NM_000138.4):c.8176C>T (p.R2726W, p.(Arg2726Trp)), FBN1(NM_000138.5):c.8176C>T (p.R2726W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967797" "0" "30" "15" "48712782" "48712782" "subst" "0" "02329" "FBN1_001371" "g.48712782T>C" "" "" "" "FBN1(NM_000138.4):c.7819+102A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967798" "0" "90" "15" "48712904" "48712904" "subst" "0" "02329" "FBN1_001372" "g.48712904T>C" "" "" "" "FBN1(NM_000138.4):c.7799A>G (p.Y2600C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000967799" "0" "30" "15" "48713637" "48713637" "subst" "0" "02329" "FBN1_001373" "g.48713637T>C" "" "" "" "FBN1(NM_000138.4):c.7699+118A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967800" "0" "50" "15" "48718019" "48718019" "subst" "0" "02329" "FBN1_001374" "g.48718019C>G" "" "" "" "FBN1(NM_000138.4):c.7247G>C (p.G2416A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967801" "0" "90" "15" "48719798" "48719798" "del" "0" "02329" "FBN1_001375" "g.48719798del" "" "" "" "FBN1(NM_000138.4):c.7170delT (p.H2392Mfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000967802" "0" "30" "15" "48720421" "48720421" "subst" "0" "02329" "FBN1_001376" "g.48720421T>C" "" "" "" "FBN1(NM_000138.4):c.6997+122A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967803" "0" "50" "15" "48720576" "48720576" "subst" "4.06428E-6" "02327" "FBN1_001377" "g.48720576A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967804" "0" "90" "15" "48725078" "48725078" "subst" "1.22088E-5" "02329" "FBN1_000110" "g.48725078G>A" "" "" "" "FBN1(NM_000138.4):c.6724C>T (p.R2242C, p.(Arg2242Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000967805" "0" "30" "15" "48726831" "48726831" "subst" "0.000150426" "02326" "FBN1_001378" "g.48726831G>A" "" "" "" "FBN1(NM_000138.4):c.6576C>T (p.C2192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967806" "0" "50" "15" "48726896" "48726896" "subst" "0" "02327" "FBN1_001379" "g.48726896A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967807" "0" "30" "15" "48727150" "48727150" "subst" "0" "02329" "FBN1_001380" "g.48727150C>T" "" "" "" "FBN1(NM_000138.4):c.6497-240G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967808" "0" "50" "15" "48729584" "48729584" "subst" "4.0795E-6" "01804" "FBN1_000884" "g.48729584T>A" "" "" "" "FBN1(NM_000138.4):c.6314A>T (p.(Glu2105Val), p.E2105V), FBN1(NM_000138.5):c.6314A>T (p.E2105V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967809" "0" "30" "15" "48730242" "48730242" "subst" "0" "02329" "FBN1_001381" "g.48730242G>A" "" "" "" "FBN1(NM_000138.4):c.6164-128C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967810" "0" "90" "15" "48734045" "48734045" "subst" "0" "02329" "FBN1_001382" "g.48734045T>C" "" "" "" "FBN1(NM_000138.4):c.6038-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000967812" "0" "70" "15" "48736768" "48736768" "subst" "0" "02329" "FBN1_000206" "g.48736768C>T" "" "" "" "FBN1(NM_000138.4):c.6007G>A (p.G2003R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000967813" "0" "30" "15" "48737059" "48737059" "subst" "0" "02329" "FBN1_001383" "g.48737059T>G" "" "" "" "FBN1(NM_000138.4):c.5918-202A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967814" "0" "30" "15" "48738899" "48738899" "subst" "2.03436E-5" "02329" "FBN1_001384" "g.48738899G>T" "" "" "" "FBN1(NM_000138.4):c.5788+4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967815" "0" "30" "15" "48739380" "48739380" "subst" "0" "02329" "FBN1_001385" "g.48739380G>A" "" "" "" "FBN1(NM_000138.4):c.5672-361C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967816" "0" "50" "15" "48741063" "48741063" "subst" "5.70037E-5" "02329" "FBN1_000463" "g.48741063T>C" "" "" "" "FBN1(NM_000138.4):c.5573A>G (p.N1858S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967817" "0" "50" "15" "48741070" "48741070" "subst" "0" "02329" "FBN1_001386" "g.48741070T>C" "" "" "" "FBN1(NM_000138.4):c.5566A>G (p.I1856V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967818" "0" "30" "15" "48744647" "48744647" "subst" "0" "02329" "FBN1_001387" "g.48744647T>G" "" "" "" "FBN1(NM_000138.4):c.5545+112A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967819" "0" "30" "15" "48752356" "48752356" "subst" "0" "02329" "FBN1_001388" "g.48752356C>T" "" "" "" "FBN1(NM_000138.4):c.5296+87G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967820" "0" "90" "15" "48752494" "48752494" "subst" "0" "02329" "FBN1_001389" "g.48752494C>A" "" "" "" "FBN1(NM_000138.4):c.5245G>T (p.G1749*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000967821" "0" "30" "15" "48755202" "48755202" "subst" "0" "02329" "FBN1_001390" "g.48755202G>A" "" "" "" "FBN1(NM_000138.4):c.5224+77C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967822" "0" "50" "15" "48755287" "48755287" "subst" "0" "01804" "FBN1_001391" "g.48755287G>A" "" "" "" "FBN1(NM_000138.4):c.5216C>T (p.(Pro1739Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967823" "0" "30" "15" "48757921" "48757921" "subst" "0" "02329" "FBN1_001392" "g.48757921A>C" "" "" "" "FBN1(NM_000138.4):c.4817-31T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967824" "0" "30" "15" "48760008" "48760008" "subst" "0" "02329" "FBN1_001393" "g.48760008C>T" "" "" "" "FBN1(NM_000138.4):c.4747+127G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967825" "0" "30" "15" "48760901" "48760901" "subst" "0" "02329" "FBN1_001394" "g.48760901G>A" "" "" "" "FBN1(NM_000138.4):c.4460-170C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967826" "0" "50" "15" "48764814" "48764814" "subst" "0.00019497" "02327" "FBN1_000552" "g.48764814G>C" "" "" "" "FBN1(NM_000138.4):c.4270C>G (p.P1424A), FBN1(NM_000138.5):c.4270C>G (p.P1424A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967827" "0" "50" "15" "48766737" "48766737" "subst" "8.12394E-6" "02329" "FBN1_000911" "g.48766737T>C" "" "" "" "FBN1(NM_000138.4):c.4075A>G (p.(Ile1359Val), p.I1359V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967828" "0" "50" "15" "48777593" "48777593" "subst" "0" "02329" "FBN1_001395" "g.48777593C>T" "" "" "" "FBN1(NM_000138.4):c.3690G>A (p.(Met1230Ile), p.M1230I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967829" "0" "30" "15" "48779306" "48779306" "subst" "4.06164E-6" "02329" "FBN1_001396" "g.48779306G>T" "" "" "" "FBN1(NM_000138.4):c.3555C>A (p.G1185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967830" "0" "50" "15" "48782128" "48782128" "subst" "0" "02325" "FBN1_001397" "g.48782128G>A" "" "" "" "FBN1(NM_000138.5):c.3002C>T (p.T1001I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967831" "0" "30" "15" "48786305" "48786305" "subst" "0" "02329" "FBN1_001398" "g.48786305C>G" "" "" "" "FBN1(NM_000138.4):c.2728+96G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967832" "0" "50" "15" "48786451" "48786451" "subst" "4.06835E-6" "02329" "FBN1_001291" "g.48786451T>C" "" "" "" "FBN1(NM_000138.4):c.2678A>G (p.D893G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967833" "0" "10" "15" "48786466" "48786466" "subst" "0.000742269" "02326" "FBN1_000163" "g.48786466G>A" "" "" "" "FBN1(NM_000138.4):c.2678-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000967834" "0" "50" "15" "48786692" "48786692" "subst" "0" "02329" "FBN1_001399" "g.48786692G>A" "" "" "" "FBN1(NM_000138.4):c.2678-241C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967835" "0" "50" "15" "48789552" "48789552" "subst" "0" "02329" "FBN1_001093" "g.48789552G>C" "" "" "" "FBN1(NM_000138.4):c.2204C>G (p.(Pro735Arg), p.P735R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967836" "0" "30" "15" "48791398" "48791398" "subst" "0" "02329" "FBN1_001400" "g.48791398C>T" "" "" "" "FBN1(NM_000138.4):c.2114-163G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967837" "0" "30" "15" "48797359" "48797359" "subst" "0" "02329" "FBN1_001401" "g.48797359G>A" "" "" "" "FBN1(NM_000138.4):c.1838-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967838" "0" "30" "15" "48800763" "48800763" "subst" "4.06375E-6" "02329" "FBN1_001402" "g.48800763G>A" "" "" "" "FBN1(NM_000138.4):c.1837+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967839" "0" "30" "15" "48805994" "48805994" "subst" "0" "02329" "FBN1_001403" "g.48805994T>C" "" "" "" "FBN1(NM_000138.4):c.1469-129A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967840" "0" "30" "15" "48818163" "48818163" "subst" "0" "02329" "FBN1_001404" "g.48818163C>T" "" "" "" "FBN1(NM_000138.4):c.988+164G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967841" "0" "30" "15" "48818236" "48818236" "subst" "0" "02329" "FBN1_001405" "g.48818236T>G" "" "" "" "FBN1(NM_000138.4):c.988+91A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967842" "0" "10" "15" "48818329" "48818329" "subst" "0.00155168" "02329" "FBN1_000186" "g.48818329A>G" "" "" "" "FBN1(NM_000138.4):c.986T>C (p.(Ile329Thr), p.I329T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000967843" "0" "50" "15" "48902987" "48902987" "subst" "1.21875E-5" "02329" "FBN1_000196" "g.48902987G>A" "" "" "" "FBN1(NM_000138.4):c.284C>T (p.(Ser95Leu), p.S95L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967844" "0" "30" "15" "48905482" "48905482" "subst" "0" "02329" "FBN1_001406" "g.48905482C>T" "" "" "" "FBN1(NM_000138.4):c.165-193G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967845" "0" "30" "15" "48936908" "48936908" "subst" "0.00015437" "02326" "FBN1_000202" "g.48936908T>C" "" "" "" "FBN1(NM_000138.4):c.59A>G (p.Y20C), FBN1(NM_000138.5):c.59A>G (p.Y20C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000972071" "0" "50" "15" "48738898" "48738898" "subst" "0" "04670" "FBN1_001101" "g.48738898C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.48446701C>T" "" "VUS" "ACMG" "0000972072" "0" "70" "15" "48776059" "48776059" "subst" "0" "04670" "FBN1_001100" "g.48776059C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.48483862C>T" "" "likely pathogenic" "" "0000972073" "11" "70" "15" "48788301" "48788301" "subst" "0" "04670" "FBN1_000046" "g.48788301A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48496104A>C" "" "likely pathogenic" "ACMG" "0000972080" "0" "50" "15" "48766566" "48766566" "subst" "0" "04670" "FBN1_000569" "g.48766566C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48474369C>T" "" "likely pathogenic" "" "0000972081" "0" "50" "15" "48784664" "48784664" "subst" "0" "04670" "FBN1_001105" "g.48784664A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48492467A>G" "" "likely pathogenic" "" "0000972104" "0" "50" "15" "48797303" "48797303" "subst" "0" "04670" "FBN1_000750" "g.48797303G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "g.48505106G>A" "" "VUS" "" "0000972108" "0" "50" "15" "48802246" "48802246" "subst" "0" "04670" "FBN1_001106" "g.48802246C>G" "" "" "" "" "" "De novo" "" "" "" "" "" "g.48510049C>G" "" "likely pathogenic" "" "0000972109" "0" "50" "15" "48784708" "48784708" "subst" "0" "04670" "FBN1_001098" "g.48784708C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "g.48492511C>T" "" "likely pathogenic" "" "0000972110" "0" "50" "15" "48888539" "48888539" "subst" "0" "04670" "FBN1_000031" "g.48888539C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "g.48596342C>T" "" "likely pathogenic" "" "0000972111" "0" "50" "15" "48797298" "48797298" "subst" "0" "04670" "FBN1_001362" "g.48797298G>C" "" "" "" "" "" "De novo" "" "" "" "" "" "g.48505101G>C" "" "VUS" "" "0000972112" "0" "50" "15" "48905270" "48905270" "subst" "0" "04670" "FBN1_000847" "g.48905270G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48613073G>A" "" "VUS" "" "0000972113" "0" "50" "15" "48797234" "48797234" "subst" "0" "04670" "FBN1_000740" "g.48797234G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48505037G>A" "" "likely pathogenic" "" "0000972114" "0" "50" "15" "48802262" "48802262" "subst" "0" "04670" "FBN1_001158" "g.48802262G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48510065G>A" "" "pathogenic" "" "0000972115" "0" "50" "15" "48764799" "48764799" "subst" "0" "04670" "FBN1_001129" "g.48764799A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48472602A>G" "" "likely pathogenic" "" "0000972116" "0" "50" "15" "48800889" "48800889" "subst" "0" "04670" "FBN1_001156" "g.48800889C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48508692C>T" "" "likely pathogenic" "" "0000972117" "0" "50" "15" "48760654" "48760654" "subst" "0" "04670" "FBN1_001126" "g.48760654A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48468457A>G" "" "likely pathogenic" "" "0000972118" "0" "50" "15" "48802317" "48802317" "subst" "0" "04670" "FBN1_001159" "g.48802317G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48510120G>C" "" "likely pathogenic" "" "0000972119" "0" "50" "15" "48756179" "48756179" "subst" "0" "04670" "FBN1_001121" "g.48756179C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48463982C>T" "" "likely pathogenic" "" "0000972120" "0" "50" "15" "48725105" "48725105" "subst" "0" "04670" "FBN1_001110" "g.48725105G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48432908G>C" "" "VUS" "" "0000972121" "0" "50" "15" "48786405" "48786405" "subst" "0" "04670" "FBN1_001145" "g.48786405A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48494208A>C" "" "likely pathogenic" "" "0000972122" "0" "50" "15" "48729519" "48729519" "del" "0" "04670" "FBN1_001413" "g.48729519del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48437322del" "" "pathogenic" "" "0000972123" "0" "50" "15" "48802355" "48802355" "subst" "0" "04670" "FBN1_001160" "g.48802355A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48510158A>G" "" "likely pathogenic" "" "0000972124" "0" "50" "15" "48729157" "48729157" "subst" "0" "04670" "FBN1_001412" "g.48729157C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48436960C>T" "" "pathogenic" "" "0000972125" "0" "50" "15" "48888569" "48888569" "subst" "0" "04670" "FBN1_001163" "g.48888569C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48596372C>T" "" "likely pathogenic" "" "0000972126" "0" "50" "15" "48725114" "48725114" "subst" "0" "04670" "FBN1_001111" "g.48725114A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48432917A>G" "" "likely pathogenic" "" "0000972127" "0" "50" "15" "48786407" "48786407" "subst" "0" "04670" "FBN1_000681" "g.48786407A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48494210A>G" "" "likely pathogenic" "" "0000972128" "0" "50" "15" "48760281" "48760281" "subst" "0" "04670" "FBN1_001124" "g.48760281C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48468084C>A" "" "likely pathogenic" "" "0000972129" "0" "50" "15" "48719972" "48719972" "subst" "0" "04670" "FBN1_001409" "g.48719972T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48427775T>C" "" "pathogenic" "" "0000972130" "0" "50" "15" "48757777" "48757777" "subst" "0" "04670" "FBN1_000901" "g.48757777G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48465580G>A" "" "pathogenic" "" "0000972131" "0" "50" "15" "48797278" "48797278" "subst" "0" "04670" "FBN1_001152" "g.48797278T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48505081T>C" "" "likely pathogenic" "" "0000972132" "0" "50" "15" "48905255" "48905255" "subst" "0" "04670" "FBN1_001166" "g.48905255A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48613058A>G" "" "likely pathogenic" "" "0000972133" "0" "50" "15" "48786399" "48786399" "subst" "0" "04670" "FBN1_001448" "g.48786399A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48494202A>G" "" "pathogenic" "" "0000972134" "0" "50" "15" "48779385" "48779385" "subst" "0" "04670" "FBN1_001137" "g.48779385C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48487188C>A" "" "likely pathogenic" "" "0000972135" "0" "50" "15" "48796043" "48796043" "subst" "0" "04670" "FBN1_001150" "g.48796043C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48503846C>T" "" "likely pathogenic" "" "0000972136" "0" "50" "15" "48733923" "48733923" "subst" "0" "04670" "FBN1_001114" "g.48733923C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48441726C>A" "" "likely pathogenic" "" "0000972137" "0" "50" "15" "48829826" "48829826" "subst" "0" "04670" "FBN1_000074" "g.48829826G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48537629G>A" "" "VUS" "" "0000972138" "0" "50" "15" "48789589" "48789589" "subst" "0" "04670" "FBN1_001460" "g.48789589C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48497392C>G" "" "pathogenic" "" "0000972139" "0" "50" "15" "48802285" "48802285" "subst" "0" "04670" "FBN1_000765" "g.48802285C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48510088C>T" "" "likely pathogenic" "" "0000972140" "0" "50" "15" "48766519" "48766521" "del" "0" "04670" "FBN1_001130" "g.48766519_48766521del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48474322_48474324del" "" "likely pathogenic" "" "0000972141" "0" "50" "15" "48729519" "48729519" "subst" "0" "04670" "FBN1_001112" "g.48729519C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48437322C>A" "" "pathogenic" "" "0000972142" "0" "50" "15" "48782098" "48782098" "subst" "0" "04670" "FBN1_001141" "g.48782098C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48489901C>T" "" "likely pathogenic" "" "0000972143" "0" "50" "15" "48766542" "48766542" "subst" "0" "04670" "FBN1_001131" "g.48766542A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48474345A>G" "" "likely pathogenic" "" "0000972144" "0" "50" "15" "48800871" "48800871" "subst" "0" "04670" "FBN1_001155" "g.48800871C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48508674C>T" "" "likely pathogenic" "" "0000972145" "0" "50" "15" "48788347" "48788347" "subst" "0" "04670" "FBN1_001149" "g.48788347C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48496150C>T" "" "likely pathogenic" "" "0000972146" "0" "50" "15" "48784771" "48784771" "subst" "0" "04670" "FBN1_001144" "g.48784771C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48492574C>A" "" "likely pathogenic" "" "0000972147" "0" "50" "15" "48737690" "48737690" "subst" "0" "04670" "FBN1_001117" "g.48737690A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48445493A>G" "" "likely pathogenic" "" "0000972148" "0" "50" "15" "48905270" "48905270" "subst" "0" "04670" "FBN1_000847" "g.48905270G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48613073G>A" "" "VUS" "" "0000972149" "0" "50" "15" "48829903" "48829903" "subst" "0" "04670" "FBN1_001162" "g.48829903C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48537706C>T" "" "likely pathogenic" "" "0000972150" "0" "50" "15" "48802322" "48802322" "subst" "0" "04670" "FBN1_000175" "g.48802322G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48510125G>A" "" "likely pathogenic" "" "0000972151" "0" "50" "15" "48902981" "48902981" "subst" "0" "04670" "FBN1_001475" "g.48902981G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48610784G>C" "" "VUS" "" "0000972152" "0" "50" "15" "48782270" "48782270" "subst" "0" "04670" "FBN1_000983" "g.48782270G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48490073G>A" "" "likely pathogenic" "" "0000972153" "0" "50" "15" "48738898" "48738898" "subst" "0" "04670" "FBN1_001101" "g.48738898C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48446701C>T" "" "VUS" "" "0000972154" "0" "50" "15" "48829904" "48829904" "subst" "0" "04670" "FBN1_000811" "g.48829904C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48537707C>T" "" "likely pathogenic" "" "0000972155" "0" "50" "15" "48829826" "48829826" "subst" "0" "04670" "FBN1_000074" "g.48829826G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48537629G>A" "" "VUS" "" "0000972156" "0" "50" "15" "48779316" "48779316" "subst" "0" "04670" "FBN1_001135" "g.48779316C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48487119C>A" "" "likely pathogenic" "" "0000972157" "0" "50" "15" "48782258" "48782258" "subst" "0" "04670" "FBN1_001142" "g.48782258A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48490061A>T" "" "likely pathogenic" "" "0000972158" "0" "50" "15" "48905270" "48905270" "subst" "0" "04670" "FBN1_000847" "g.48905270G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48613073G>A" "" "VUS" "" "0000972159" "0" "50" "15" "48905270" "48905270" "subst" "0" "04670" "FBN1_000847" "g.48905270G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48613073G>A" "" "VUS" "" "0000972160" "0" "50" "15" "48762836" "48762836" "subst" "0" "04670" "FBN1_001127" "g.48762836C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48470639C>T" "" "likely pathogenic" "" "0000972161" "0" "50" "15" "48902965" "48902965" "subst" "0" "04670" "FBN1_001165" "g.48902965G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48610768G>C" "" "likely pathogenic" "" "0000972162" "0" "50" "15" "48802322" "48802322" "subst" "0" "04670" "FBN1_000175" "g.48802322G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48510125G>A" "" "likely pathogenic" "" "0000972163" "0" "50" "15" "48755430" "48755432" "del" "0" "04670" "FBN1_001120" "g.48755430_48755432del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48463233_48463235del" "" "likely pathogenic" "" "0000972164" "0" "50" "15" "48787338" "48787338" "subst" "0" "04670" "FBN1_001147" "g.48787338A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48495141A>G" "" "likely pathogenic" "" "0000972165" "0" "50" "15" "48892423" "48892423" "subst" "0" "04670" "FBN1_001369" "g.48892423A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48600226A>G" "" "likely pathogenic" "" "0000972166" "0" "50" "15" "48766815" "48766815" "subst" "0" "04670" "FBN1_001132" "g.48766815A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48474618A>G" "" "likely pathogenic" "" "0000972167" "0" "50" "15" "48829904" "48829904" "subst" "0" "04670" "FBN1_000811" "g.48829904C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48537707C>T" "" "likely pathogenic" "" "0000972168" "0" "50" "15" "48744758" "48744758" "subst" "0" "04670" "FBN1_001421" "g.48744758C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48452561C>G" "" "pathogenic" "" "0000972170" "0" "50" "15" "48782269" "48782269" "subst" "0" "04670" "FBN1_001143" "g.48782269C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48490072C>G" "" "likely pathogenic" "" "0000972171" "0" "50" "15" "48780430" "48780430" "subst" "0" "04670" "FBN1_000640" "g.48780430C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48488233C>T" "" "likely pathogenic" "" "0000972172" "0" "50" "15" "48780403" "48780403" "subst" "0" "04670" "FBN1_001138" "g.48780403C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48488206C>A" "" "likely pathogenic" "" "0000972173" "0" "50" "15" "48797291" "48797291" "subst" "0" "04670" "FBN1_001153" "g.48797291T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48505094T>G" "" "likely pathogenic" "" "0000972174" "0" "50" "15" "48807672" "48807672" "subst" "0" "04670" "FBN1_001161" "g.48807672A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48515475A>C" "" "likely pathogenic" "" "0000972175" "0" "50" "15" "48784702" "48784702" "subst" "0" "04670" "FBN1_000677" "g.48784702C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48492505C>T" "" "likely pathogenic" "" "0000972176" "0" "50" "15" "48738898" "48738898" "subst" "0" "04670" "FBN1_001101" "g.48738898C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48446701C>T" "" "likely pathogenic" "" "0000972177" "0" "50" "15" "48892371" "48892371" "subst" "0" "04670" "FBN1_001164" "g.48892371C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48600174C>A" "" "likely pathogenic" "" "0000972178" "0" "50" "15" "48729576" "48729576" "subst" "0" "04670" "FBN1_001113" "g.48729576G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48437379G>A" "" "likely pathogenic" "" "0000972179" "0" "50" "15" "48766566" "48766566" "subst" "0" "04670" "FBN1_000569" "g.48766566C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48474369C>T" "" "likely pathogenic" "" "0000972180" "0" "50" "15" "48757986" "48757986" "subst" "0" "04670" "FBN1_001432" "g.48757986C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48465789C>T" "" "pathogenic" "" "0000972181" "0" "50" "15" "48773895" "48773895" "subst" "0" "04670" "FBN1_001134" "g.48773895A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48481698A>C" "" "likely pathogenic" "" "0000972182" "0" "50" "15" "48905270" "48905270" "subst" "0" "04670" "FBN1_000847" "g.48905270G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48613073G>A" "" "VUS" "" "0000972183" "0" "50" "15" "48800842" "48800842" "subst" "0" "04670" "FBN1_000758" "g.48800842C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48508645C>A" "" "likely pathogenic" "" "0000972184" "0" "50" "15" "48802285" "48802285" "subst" "0" "04670" "FBN1_000765" "g.48802285C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48510088C>T" "" "likely pathogenic" "" "0000972185" "0" "50" "15" "48718026" "48718026" "subst" "0" "04670" "FBN1_000054" "g.48718026G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48425829G>A" "" "pathogenic" "" "0000972186" "0" "50" "15" "48902966" "48902966" "subst" "0" "04670" "FBN1_000832" "g.48902966C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48610769C>A" "" "likely pathogenic" "" "0000972187" "0" "50" "15" "48786442" "48786442" "subst" "0" "04670" "FBN1_001146" "g.48786442C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48494245C>T" "" "likely pathogenic" "" "0000972188" "0" "50" "15" "48738950" "48738950" "subst" "0" "04670" "FBN1_001119" "g.48738950C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48446753C>T" "" "likely pathogenic" "" "0000972189" "0" "50" "15" "48752515" "48752515" "subst" "0" "04670" "FBN1_001428" "g.48752515C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48460318C>A" "" "pathogenic" "" "0000972190" "0" "50" "15" "48797267" "48797267" "subst" "0" "04670" "FBN1_001151" "g.48797267A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48505070A>G" "" "likely pathogenic" "" "0000972191" "0" "50" "15" "48729544" "48729544" "subst" "4.07541E-6" "04670" "FBN1_001031" "g.48729544G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48437347G>A" "" "pathogenic" "" "0000972193" "0" "50" "15" "48780403" "48780403" "subst" "0" "04670" "FBN1_001138" "g.48780403C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48488206C>A" "" "likely pathogenic" "" "0000972194" "0" "50" "15" "48797234" "48797234" "subst" "0" "04670" "FBN1_000740" "g.48797234G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48505037G>A" "" "likely pathogenic" "" "0000972195" "0" "50" "15" "48737599" "48737609" "del" "0" "04670" "FBN1_001116" "g.48737599_48737609del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48445402_48445412del" "" "pathogenic" "" "0000972196" "0" "50" "15" "48787758" "48787758" "subst" "0" "04670" "FBN1_000705" "g.48787758C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48495561C>G" "" "likely pathogenic" "" "0000972197" "0" "50" "15" "48892344" "48892344" "subst" "0" "04670" "FBN1_000823" "g.48892344C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48600147C>T" "" "likely pathogenic" "" "0000972198" "0" "50" "15" "48776128" "48776128" "subst" "0" "04670" "FBN1_000595" "g.48776128C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48483931C>T" "" "likely pathogenic" "" "0000972199" "0" "50" "15" "48807589" "48807589" "subst" "0" "04670" "FBN1_001048" "g.48807589C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48515392C>T" "" "likely pathogenic" "" "0000972200" "0" "50" "15" "48738909" "48738909" "subst" "0" "04670" "FBN1_001118" "g.48738909A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48446712A>G" "" "likely pathogenic" "" "0000972201" "0" "50" "15" "48784702" "48784702" "subst" "0" "04670" "FBN1_000677" "g.48784702C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48492505C>T" "" "likely pathogenic" "" "0000972202" "0" "50" "15" "48892414" "48892414" "subst" "0" "04670" "FBN1_000829" "g.48892414G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48600217G>A" "" "likely pathogenic" "" "0000972203" "0" "50" "15" "48744800" "48744800" "subst" "0" "04670" "FBN1_000470" "g.48744800C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48452603C>T" "" "likely pathogenic" "" "0000972204" "0" "50" "15" "48800901" "48800901" "subst" "0" "04670" "FBN1_001157" "g.48800901T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48508704T>G" "" "pathogenic" "" "0000972205" "0" "50" "15" "48773890" "48773895" "delins" "0" "04670" "FBN1_001133" "g.48773890_48773895delinsCCGGCAAAAAATGAG" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48481693_48481698delinsCCGGCAAAAAATGAG" "" "VUS" "" "0000972206" "0" "50" "15" "48760653" "48760653" "subst" "0" "04670" "FBN1_001125" "g.48760653C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48468456C>G" "" "likely pathogenic" "" "0000972207" "0" "50" "15" "48764862" "48764862" "subst" "0" "04670" "FBN1_001439" "g.48764862A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48472665A>C" "" "likely pathogenic" "" "0000972208" "0" "50" "15" "48782093" "48782093" "subst" "0" "04670" "FBN1_000077" "g.48782093C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48489896C>T" "" "likely pathogenic" "" "0000972209" "0" "50" "15" "48703234" "48703234" "subst" "0" "04670" "FBN1_001407" "g.48703234C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48411037C>A" "" "likely pathogenic" "" "0000972210" "0" "50" "15" "48787773" "48787773" "subst" "0" "04670" "FBN1_001148" "g.48787773C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48495576C>T" "" "likely pathogenic" "" "0000972211" "0" "50" "15" "48905266" "48905266" "subst" "4.09561E-6" "04670" "FBN1_000845" "g.48905266T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48613069T>C" "" "VUS" "" "0000972212" "0" "50" "15" "48729266" "48729266" "subst" "0" "04670" "FBN1_000402" "g.48729266C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48437069C>T" "" "likely pathogenic" "" "0000972213" "0" "50" "15" "48786433" "48786433" "subst" "0" "04670" "FBN1_001449" "g.48786433C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48494236C>T" "" "VUS" "" "0000972214" "0" "50" "15" "48829813" "48829813" "subst" "0" "04670" "FBN1_001472" "g.48829813C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48537616C>A" "" "likely pathogenic" "" "0000972215" "0" "50" "15" "48791185" "48791185" "subst" "0" "04670" "FBN1_001463" "g.48791185T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48498988T>A" "" "VUS" "" "0000972216" "0" "50" "15" "48755430" "48755432" "del" "0" "04670" "FBN1_001120" "g.48755430_48755432del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48463233_48463235del" "" "VUS" "" "0000972217" "0" "50" "15" "48738901" "48738901" "subst" "0" "04670" "FBN1_001418" "g.48738901A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48446704A>C" "" "pathogenic" "" "0000972218" "0" "50" "15" "48736859" "48736859" "subst" "0" "04670" "FBN1_001416" "g.48736859T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48444662T>C" "" "pathogenic" "" "0000972219" "0" "50" "15" "48722905" "48722907" "del" "0" "04670" "FBN1_001411" "g.48722905_48722907del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48430708_48430710del" "" "likely pathogenic" "" "0000972220" "0" "50" "15" "48764867" "48764867" "subst" "0" "04670" "FBN1_001440" "g.48764867T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48472670T>C" "" "likely pathogenic" "" "0000972236" "0" "50" "15" "48903005" "48903005" "subst" "0" "04670" "FBN1_000838" "g.48903005C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48610808C>G" "" "likely pathogenic" "" "0000972238" "0" "50" "15" "48800857" "48800857" "subst" "0" "04670" "FBN1_001466" "g.48800857A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48508660A>G" "" "likely pathogenic" "" "0000972239" "0" "50" "15" "48764799" "48764799" "subst" "0" "04670" "FBN1_001129" "g.48764799A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48472602A>G" "" "likely pathogenic" "" "0000972240" "0" "50" "15" "48782270" "48782270" "subst" "0" "04670" "FBN1_000983" "g.48782270G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48490073G>A" "" "likely pathogenic" "" "0000972241" "0" "50" "15" "48720538" "48720538" "subst" "0" "04670" "FBN1_001410" "g.48720538C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48428341C>T" "" "VUS" "" "0000972242" "0" "50" "15" "48805823" "48805823" "subst" "0" "04670" "FBN1_001470" "g.48805823C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48513626C>T" "" "likely pathogenic" "" "0000972243" "0" "50" "15" "48787374" "48787374" "subst" "0" "04670" "FBN1_001452" "g.48787374A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48495177A>C" "" "likely pathogenic" "" "0000972245" "0" "50" "15" "48756180" "48756180" "subst" "0" "04670" "FBN1_001430" "g.48756180C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48463983C>G" "" "likely pathogenic" "" "0000972246" "0" "50" "15" "48797278" "48797278" "subst" "0" "04670" "FBN1_001152" "g.48797278T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48505081T>C" "" "likely pathogenic" "" "0000972247" "0" "50" "15" "48797234" "48797234" "subst" "0" "04670" "FBN1_000740" "g.48797234G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48505037G>A" "" "likely pathogenic" "" "0000972248" "0" "50" "15" "48789576" "48789576" "subst" "0" "04670" "FBN1_001459" "g.48789576C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48497379C>T" "" "likely pathogenic" "" "0000972249" "0" "50" "15" "48788347" "48788347" "subst" "0" "04670" "FBN1_000709" "g.48788347C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48496150C>G" "" "likely pathogenic" "" "0000972250" "0" "50" "15" "48788347" "48788347" "subst" "0" "04670" "FBN1_001149" "g.48788347C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48496150C>T" "" "likely pathogenic" "" "0000972259" "0" "50" "15" "48722967" "48722967" "subst" "0" "04670" "FBN1_000361" "g.48722967A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48430770A>G" "" "likely pathogenic" "" "0000972260" "0" "50" "15" "48789555" "48789555" "subst" "0" "04670" "FBN1_000723" "g.48789555C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48497358C>A" "" "likely pathogenic" "" "0000972261" "0" "50" "15" "48755437" "48755437" "subst" "0" "04670" "FBN1_001429" "g.48755437T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48463240T>A" "" "pathogenic" "" "0000972262" "0" "50" "15" "48766790" "48766790" "subst" "0" "04670" "FBN1_000573" "g.48766790T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48474593T>C" "" "likely pathogenic" "" "0000972263" "0" "50" "15" "48782270" "48782270" "subst" "0" "04670" "FBN1_000983" "g.48782270G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48490073G>A" "" "likely pathogenic" "" "0000972264" "0" "50" "15" "48748833" "48748833" "subst" "0" "04670" "FBN1_001423" "g.48748833C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48456636C>T" "" "pathogenic" "" "0000972265" "0" "50" "15" "48892414" "48892414" "subst" "0" "04670" "FBN1_000829" "g.48892414G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48600217G>A" "" "likely pathogenic" "" "0000972266" "0" "50" "15" "48788296" "48788296" "subst" "0" "04670" "FBN1_001456" "g.48788296C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48496099C>T" "" "pathogenic" "" "0000972267" "0" "50" "15" "48807631" "48807631" "subst" "0" "04670" "FBN1_001471" "g.48807631C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48515434C>A" "" "likely pathogenic" "" "0000972268" "0" "50" "15" "48764801" "48764801" "subst" "0" "04670" "FBN1_001437" "g.48764801C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48472604C>G" "" "likely pathogenic" "" "0000972269" "0" "50" "15" "48764824" "48764824" "subst" "0" "04670" "FBN1_001191" "g.48764824G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48472627G>C" "" "likely pathogenic" "" "0000972270" "0" "50" "15" "48829826" "48829826" "subst" "0" "04670" "FBN1_000074" "g.48829826G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48537629G>A" "" "VUS" "" "0000972271" "0" "50" "15" "48787359" "48787359" "subst" "0" "04670" "FBN1_001451" "g.48787359C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48495162C>T" "" "likely pathogenic" "" "0000972274" "0" "50" "15" "48766457" "48766457" "subst" "0" "04670" "FBN1_001441" "g.48766457C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48474260C>T" "" "likely pathogenic" "" "0000972275" "0" "50" "15" "48905278" "48905278" "subst" "0" "04670" "FBN1_001476" "g.48905278C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48613081C>T" "" "likely pathogenic" "" "0000972276" "0" "50" "15" "48779509" "48779509" "subst" "0" "04670" "FBN1_000616" "g.48779509C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48487312C>T" "" "pathogenic" "" "0000972277" "0" "50" "15" "48892414" "48892414" "subst" "0" "04670" "FBN1_000829" "g.48892414G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48600217G>A" "" "likely pathogenic" "" "0000972278" "0" "50" "15" "48760653" "48760653" "subst" "0" "04670" "FBN1_001435" "g.48760653C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48468456C>A" "" "likely pathogenic" "" "0000972279" "0" "50" "15" "48800895" "48800895" "subst" "0" "04670" "FBN1_001467" "g.48800895T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48508698T>C" "" "likely pathogenic" "" "0000972280" "0" "50" "15" "48784750" "48784750" "subst" "0" "04670" "FBN1_001447" "g.48784750C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48492553C>T" "" "likely pathogenic" "" "0000972281" "0" "50" "15" "48787710" "48787710" "subst" "0" "04670" "FBN1_001454" "g.48787710C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48495513C>G" "" "likely pathogenic" "" "0000972282" "0" "50" "15" "48892414" "48892414" "subst" "0" "04670" "FBN1_000829" "g.48892414G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48600217G>A" "" "likely pathogenic" "" "0000972283" "0" "50" "15" "48748839" "48748839" "subst" "0" "04670" "FBN1_001424" "g.48748839C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48456642C>T" "" "likely pathogenic" "" "0000972284" "0" "50" "15" "48766790" "48766790" "subst" "0" "04670" "FBN1_000573" "g.48766790T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48474593T>C" "" "likely pathogenic" "" "0000972285" "0" "50" "15" "48741091" "48741091" "subst" "0" "04670" "FBN1_001420" "g.48741091C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48448894C>T" "" "pathogenic" "" "0000972286" "0" "50" "15" "48738902" "48738902" "subst" "0" "04670" "FBN1_001419" "g.48738902C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48446705C>T" "" "pathogenic" "" "0000972287" "0" "50" "15" "48888479" "48888479" "subst" "0" "04670" "FBN1_001473" "g.48888479C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48596282C>T" "" "pathogenic" "" "0000972288" "0" "50" "15" "48800841" "48800841" "subst" "0" "04670" "FBN1_001465" "g.48800841C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48508644C>T" "" "likely pathogenic" "" "0000972289" "0" "50" "15" "48791178" "48791178" "subst" "0" "04670" "FBN1_001462" "g.48791178T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48498981T>C" "" "VUS" "" "0000972290" "0" "50" "15" "48829826" "48829826" "subst" "0" "04670" "FBN1_000074" "g.48829826G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48537629G>A" "" "VUS" "" "0000972291" "0" "50" "15" "48722999" "48722999" "subst" "0" "04670" "FBN1_000364" "g.48722999T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48430802T>C" "" "pathogenic" "" "0000972292" "0" "50" "15" "48748917" "48748917" "subst" "0" "04670" "FBN1_001425" "g.48748917C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48456720C>T" "" "likely pathogenic" "" "0000972293" "0" "50" "15" "48748917" "48748917" "subst" "0" "04670" "FBN1_001426" "g.48748917C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48456720C>G" "" "likely pathogenic" "" "0000972294" "0" "50" "15" "48829826" "48829826" "subst" "0" "04670" "FBN1_000074" "g.48829826G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48537629G>A" "" "likely pathogenic" "" "0000972295" "0" "50" "15" "48802325" "48802325" "subst" "0" "04670" "FBN1_001469" "g.48802325C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48510128C>G" "" "likely pathogenic" "" "0000972296" "0" "50" "15" "48779514" "48779514" "subst" "0" "04670" "FBN1_001445" "g.48779514C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48487317C>T" "" "likely pathogenic" "" "0000972297" "0" "50" "15" "48802322" "48802322" "subst" "0" "04670" "FBN1_001468" "g.48802322G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48510125G>T" "" "VUS" "" "0000972298" "0" "50" "15" "48786443" "48786443" "subst" "0" "04670" "FBN1_001450" "g.48786443A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48494246A>G" "" "likely pathogenic" "" "0000972299" "0" "50" "15" "48757987" "48757987" "subst" "0" "04670" "FBN1_001433" "g.48757987C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48465790C>T" "" "pathogenic" "" "0000972300" "0" "50" "15" "48733996" "48733996" "subst" "0" "04670" "FBN1_001414" "g.48733996A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48441799A>C" "" "likely pathogenic" "" "0000972301" "0" "50" "15" "48717616" "48717616" "subst" "0" "04670" "FBN1_001408" "g.48717616C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48425419C>T" "" "likely pathogenic" "" "0000972302" "0" "50" "15" "48786442" "48786442" "subst" "0" "04670" "FBN1_001146" "g.48786442C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48494245C>T" "" "likely pathogenic" "" "0000972303" "0" "50" "15" "48787772" "48787772" "subst" "0" "04670" "FBN1_001455" "g.48787772G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48495575G>T" "" "pathogenic" "" "0000972304" "0" "50" "15" "48797303" "48797303" "subst" "0" "04670" "FBN1_000750" "g.48797303G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48505106G>A" "" "likely pathogenic" "" "0000972305" "0" "50" "15" "48782210" "48782210" "subst" "0" "04670" "FBN1_000673" "g.48782210G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48490013G>A" "" "likely pathogenic" "" "0000972306" "0" "50" "15" "48760739" "48760739" "subst" "4.06851E-6" "04670" "FBN1_000906" "g.48760739C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48468542C>T" "" "VUS" "" "0000972307" "0" "50" "15" "48764826" "48764826" "subst" "0" "04670" "FBN1_001438" "g.48764826A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48472629A>G" "" "likely pathogenic" "" "0000972308" "0" "50" "15" "48760293" "48760293" "subst" "0" "04670" "FBN1_001434" "g.48760293C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48468096C>G" "" "VUS" "" "0000972309" "0" "50" "15" "48802322" "48802322" "subst" "0" "04670" "FBN1_000175" "g.48802322G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48510125G>A" "" "likely pathogenic" "" "0000972310" "0" "50" "15" "48766566" "48766566" "subst" "0" "04670" "FBN1_000569" "g.48766566C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48474369C>T" "" "likely pathogenic" "" "0000972311" "0" "50" "15" "48744765" "48744765" "subst" "0" "04670" "FBN1_001422" "g.48744765A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48452568A>C" "" "likely pathogenic" "" "0000972312" "0" "50" "15" "48905270" "48905270" "subst" "0" "04670" "FBN1_000847" "g.48905270G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48613073G>A" "" "VUS" "" "0000972313" "0" "50" "15" "48766566" "48766566" "subst" "0" "04670" "FBN1_000569" "g.48766566C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48474369C>T" "" "likely pathogenic" "" "0000972314" "0" "50" "15" "48789535" "48789535" "subst" "0" "04670" "FBN1_001458" "g.48789535T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48497338T>G" "" "likely pathogenic" "" "0000972315" "0" "50" "15" "48892414" "48892414" "subst" "0" "04670" "FBN1_000829" "g.48892414G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48600217G>A" "" "likely pathogenic" "" "0000972316" "0" "50" "15" "48755430" "48755432" "del" "0" "04670" "FBN1_001120" "g.48755430_48755432del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48463233_48463235del" "" "likely pathogenic" "" "0000972317" "0" "50" "15" "48773887" "48773887" "subst" "0" "04670" "FBN1_001443" "g.48773887C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48481690C>T" "" "likely pathogenic" "" "0000972318" "0" "50" "15" "48779328" "48779328" "subst" "0" "04670" "FBN1_001444" "g.48779328T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48487131T>C" "" "likely pathogenic" "" "0000972319" "0" "50" "15" "48797303" "48797303" "subst" "0" "04670" "FBN1_000750" "g.48797303G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48505106G>A" "" "VUS" "" "0000972320" "0" "50" "15" "48802322" "48802322" "subst" "0" "04670" "FBN1_000175" "g.48802322G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48510125G>A" "" "likely pathogenic" "" "0000972321" "0" "50" "15" "48797303" "48797303" "subst" "0" "04670" "FBN1_000750" "g.48797303G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48505106G>A" "" "likely pathogenic" "" "0000972322" "0" "50" "15" "48789555" "48789555" "subst" "0" "04670" "FBN1_000723" "g.48789555C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48497358C>A" "" "likely pathogenic" "" "0000972323" "0" "50" "15" "48788296" "48788296" "subst" "0" "04670" "FBN1_001457" "g.48788296C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48496099C>A" "" "pathogenic" "" "0000972324" "0" "50" "15" "48788341" "48788341" "subst" "0" "04670" "FBN1_000708" "g.48788341C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48496144C>A" "" "likely pathogenic" "" "0000972325" "0" "50" "15" "48796010" "48796010" "subst" "0" "04670" "FBN1_001464" "g.48796010C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48503813C>A" "" "likely pathogenic" "" "0000972326" "0" "50" "15" "48755430" "48755432" "del" "0" "04670" "FBN1_001120" "g.48755430_48755432del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48463233_48463235del" "" "likely pathogenic" "" "0000972327" "0" "50" "15" "48782210" "48782210" "subst" "0" "04670" "FBN1_000673" "g.48782210G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48490013G>A" "" "likely pathogenic" "" "0000972328" "0" "50" "15" "48780379" "48780379" "subst" "0" "04670" "FBN1_001446" "g.48780379G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48488182G>A" "" "likely pathogenic" "" "0000972329" "0" "50" "15" "48762875" "48762875" "subst" "0" "04670" "FBN1_001436" "g.48762875C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48470678C>T" "" "likely pathogenic" "" "0000972330" "0" "50" "15" "48797303" "48797303" "subst" "0" "04670" "FBN1_000750" "g.48797303G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48505106G>A" "" "VUS" "" "0000972331" "0" "50" "15" "48752438" "48752438" "subst" "0" "04670" "FBN1_001427" "g.48752438C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48460241C>G" "" "likely pathogenic" "" "0000972332" "0" "50" "15" "48734045" "48734045" "subst" "0" "04670" "FBN1_001382" "g.48734045T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48441848T>C" "" "pathogenic" "" "0000972333" "0" "50" "15" "48802246" "48802246" "subst" "0" "04670" "FBN1_001106" "g.48802246C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48510049C>G" "" "likely pathogenic" "" "0000972334" "0" "50" "15" "48892392" "48892392" "subst" "0" "04670" "FBN1_001474" "g.48892392C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48600195C>A" "" "likely pathogenic" "" "0000972335" "0" "50" "15" "48737567" "48737567" "subst" "0" "04670" "FBN1_001417" "g.48737567A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48445370A>G" "" "VUS" "" "0000972336" "0" "50" "15" "48756180" "48756180" "subst" "0" "04670" "FBN1_001431" "g.48756180C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48463983C>T" "" "likely pathogenic" "" "0000972337" "0" "50" "15" "48788411" "48788411" "subst" "0" "04670" "FBN1_000713" "g.48788411A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48496214A>G" "" "likely pathogenic" "" "0000972338" "0" "50" "15" "48787416" "48787416" "subst" "0" "04670" "FBN1_001453" "g.48787416G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48495219G>A" "" "pathogenic" "" "0000972339" "0" "50" "15" "48789590" "48789590" "subst" "0" "04670" "FBN1_001461" "g.48789590T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48497393T>C" "" "pathogenic" "" "0000972340" "0" "50" "15" "48738898" "48738898" "subst" "0" "04670" "FBN1_001258" "g.48738898C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48446701C>A" "" "VUS" "" "0000972341" "0" "50" "15" "48787412" "48787412" "subst" "0" "04670" "FBN1_001192" "g.48787412C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48495215C>T" "" "likely pathogenic" "" "0000972342" "0" "50" "15" "48766468" "48766468" "subst" "0" "04670" "FBN1_001442" "g.48766468A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48474271A>C" "" "VUS" "" "0000972343" "0" "50" "15" "48736777" "48736777" "subst" "0" "04670" "FBN1_001415" "g.48736777A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.48444580A>G" "" "likely pathogenic" "" "0000981249" "0" "30" "15" "48703571" "48703571" "subst" "0.000130317" "01804" "FBN1_000086" "g.48703571C>T" "" "" "" "FBN1(NM_000138.4):c.8232G>A (p.Q2744=), FBN1(NM_000138.5):c.8232G>A (p.(Gln2744=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981250" "0" "50" "15" "48707844" "48707844" "subst" "0" "02329" "FBN1_001477" "g.48707844T>G" "" "" "" "FBN1(NM_000138.4):c.7940A>C (p.Q2647P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981251" "0" "50" "15" "48719832" "48719832" "subst" "4.06994E-6" "01804" "FBN1_001478" "g.48719832G>A" "" "" "" "FBN1(NM_000138.5):c.7136C>T (p.(Pro2379Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981252" "0" "30" "15" "48719912" "48719912" "subst" "4.88683E-5" "01804" "FBN1_000874" "g.48719912G>A" "" "" "" "FBN1(NM_000138.4):c.7056C>T (p.S2352=), FBN1(NM_000138.5):c.7056C>T (p.(Ser2352=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981253" "0" "30" "15" "48720744" "48720744" "subst" "0" "02329" "FBN1_001479" "g.48720744C>T" "" "" "" "FBN1(NM_000138.4):c.6872-76G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981254" "0" "30" "15" "48725148" "48725148" "subst" "0" "02329" "FBN1_001480" "g.48725148G>C" "" "" "" "FBN1(NM_000138.4):c.6654C>G (p.A2218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981255" "0" "90" "15" "48726791" "48726791" "subst" "0" "02329" "FBN1_000380" "g.48726791C>T" "" "" "" "FBN1(NM_000138.4):c.6616G>A (p.D2206N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981256" "0" "90" "15" "48726853" "48726853" "subst" "0" "02329" "FBN1_001481" "g.48726853A>G" "" "" "" "FBN1(NM_000138.4):c.6554T>C (p.I2185T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981257" "0" "30" "15" "48730208" "48730208" "subst" "0" "02329" "FBN1_001482" "g.48730208G>A" "" "" "" "FBN1(NM_000138.4):c.6164-94C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981258" "0" "30" "15" "48752349" "48752349" "subst" "0" "02329" "FBN1_001483" "g.48752349T>C" "" "" "" "FBN1(NM_000138.4):c.5296+94A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981259" "0" "30" "15" "48756075" "48756075" "subst" "3.59041E-5" "02329" "FBN1_001484" "g.48756075C>T" "" "" "" "FBN1(NM_000138.4):c.5065+21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981260" "0" "30" "15" "48760602" "48760602" "subst" "4.06937E-6" "01804" "FBN1_001485" "g.48760602G>T" "" "" "" "FBN1(NM_000138.5):c.4582+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981261" "0" "30" "15" "48760854" "48760854" "subst" "0" "02329" "FBN1_001486" "g.48760854C>T" "" "" "" "FBN1(NM_000138.4):c.4460-123G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981262" "0" "30" "15" "48762744" "48762744" "subst" "0" "02329" "FBN1_001487" "g.48762744C>T" "" "" "" "FBN1(NM_000138.4):c.4459+87G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981263" "0" "30" "15" "48762962" "48762962" "dup" "0" "01804" "FBN1_001488" "g.48762962dup" "" "" "" "FBN1(NM_000138.5):c.4337-4dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981264" "0" "30" "15" "48766250" "48766250" "subst" "0" "02329" "FBN1_001489" "g.48766250G>A" "" "" "" "FBN1(NM_000138.4):c.4210+202C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981265" "0" "30" "15" "48766843" "48766843" "subst" "0.000146462" "02329" "FBN1_001490" "g.48766843G>A" "" "" "" "FBN1(NM_000138.4):c.3969C>T (p.I1323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981266" "0" "50" "15" "48776087" "48776087" "subst" "4.06663E-6" "02329" "FBN1_001491" "g.48776087T>C" "" "" "" "FBN1(NM_000138.4):c.3766A>G (p.N1256D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981267" "0" "30" "15" "48780089" "48780089" "subst" "0" "02329" "FBN1_001492" "g.48780089A>G" "" "" "" "FBN1(NM_000138.4):c.3337+221T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981268" "0" "50" "15" "48780326" "48780326" "subst" "0" "01804" "FBN1_001493" "g.48780326C>T" "" "" "" "FBN1(NM_000138.5):c.3321G>A (p.(Met1107Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981269" "0" "50" "15" "48782174" "48782174" "subst" "0.00118987" "01943" "FBN1_000663" "g.48782174C>T" "" "" "" "FBN1(NM_000138.4):c.2956G>A (p.A986T, p.(Ala986Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981270" "0" "30" "15" "48782421" "48782421" "subst" "0" "02329" "FBN1_001494" "g.48782421A>C" "" "" "" "FBN1(NM_000138.4):c.2855-146T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981271" "0" "30" "15" "48789696" "48789696" "subst" "0" "02329" "FBN1_001495" "g.48789696A>C" "" "" "" "FBN1(NM_000138.4):c.2168-108T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981272" "0" "30" "15" "48795770" "48795770" "subst" "0" "02329" "FBN1_001496" "g.48795770C>T" "" "" "" "FBN1(NM_000138.4):c.2113+214G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981273" "0" "50" "15" "48796004" "48796004" "subst" "1.21885E-5" "01804" "FBN1_000731" "g.48796004G>A" "" "" "" "FBN1(NM_000138.5):c.2093C>T (p.(Pro698Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981274" "0" "50" "15" "48796067" "48796067" "subst" "0" "01804" "FBN1_001497" "g.48796067G>C" "" "" "" "FBN1(NM_000138.5):c.2030C>G (p.(Ala677Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981275" "0" "90" "15" "48800774" "48800774" "subst" "4.06342E-6" "02329" "FBN1_001498" "g.48800774C>T" "" "" "" "FBN1(NM_000138.4):c.1837+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981276" "0" "30" "15" "48802353" "48802353" "subst" "5.28481E-5" "02329" "FBN1_000942" "g.48802353A>G" "" "" "" "FBN1(NM_000138.4):c.1602T>C (p.C534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981277" "0" "30" "15" "48818470" "48818470" "subst" "0" "02329" "FBN1_001499" "g.48818470G>T" "" "" "" "FBN1(NM_000138.4):c.863-18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981278" "0" "30" "15" "48826584" "48826584" "subst" "0" "02329" "FBN1_001500" "g.48826584C>T" "" "" "" "FBN1(NM_000138.4):c.737-182G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981279" "0" "30" "15" "48829646" "48829646" "subst" "0" "02329" "FBN1_001501" "g.48829646G>A" "" "" "" "FBN1(NM_000138.4):c.736+162C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981280" "0" "50" "15" "48829946" "48829946" "subst" "4.06151E-6" "01804" "FBN1_001502" "g.48829946T>C" "" "" "" "FBN1(NM_000138.5):c.598A>G (p.(Ser200Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981281" "0" "50" "15" "48829972" "48829972" "subst" "8.12401E-6" "02325" "FBN1_000964" "g.48829972C>A" "" "" "" "FBN1(NM_000138.5):c.572G>T (p.S191I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981282" "0" "30" "15" "48905315" "48905315" "subst" "0.000102905" "02329" "FBN1_001503" "g.48905315T>C" "" "" "" "FBN1(NM_000138.4):c.165-26A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981283" "0" "30" "15" "48905370" "48905370" "subst" "0" "02329" "FBN1_001504" "g.48905370C>A" "" "" "" "FBN1(NM_000138.4):c.165-81G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985371" "0" "90" "15" "48779509" "48779509" "subst" "0" "03779" "FBN1_000616" "g.48779509C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs794728204" "0" "" "" "" "" "pathogenic" "" "0000987732" "0" "90" "15" "48748902" "48748903" "del" "0" "03544" "FBN1_001505" "g.48748902_48748903del" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.48456705_48456706del" "{CV:3374706}" "pathogenic" "ACMG" "0000987786" "0" "70" "15" "48805782" "48805782" "subst" "0" "03779" "FBN1_000776" "g.48805782C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs794728168" "0" "" "" "" "" "likely pathogenic" "" "0000989352" "0" "50" "15" "48796276" "48796276" "subst" "0" "03779" "FBN1_001507" "g.48796276T>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000989460" "0" "30" "15" "48782104" "48782104" "subst" "6.49831E-5" "03779" "FBN1_000661" "g.48782104G>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs148076256" "0" "" "" "" "" "likely benign" "" "0001001449" "0" "10" "15" "48703301" "48703301" "subst" "0.00112544" "02326" "FBN1_000083" "g.48703301A>G" "" "" "" "FBN1(NM_000138.4):c.8502T>C (p.T2834=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001001450" "0" "50" "15" "48703481" "48703481" "subst" "0" "02326" "FBN1_001508" "g.48703481C>G" "" "" "" "FBN1(NM_000138.4):c.8322G>C (p.K2774N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001451" "0" "50" "15" "48703504" "48703504" "subst" "4.06312E-5" "02329" "FBN1_001509" "g.48703504T>C" "" "" "" "FBN1(NM_000138.4):c.8299A>G (p.N2767D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001452" "0" "30" "15" "48703571" "48703571" "subst" "1.22172E-5" "01804" "FBN1_000087" "g.48703571C>G" "" "" "" "FBN1(NM_000138.4):c.8232G>C (p.Q2744H, p.(Gln2744His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001453" "0" "50" "15" "48704843" "48704843" "subst" "0.000138073" "02329" "FBN1_000248" "g.48704843C>T" "" "" "" "FBN1(NM_000138.4):c.8149G>A (p.E2717K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001454" "0" "50" "15" "48717596" "48717596" "subst" "0" "01804" "FBN1_000867" "g.48717596T>C" "" "" "" "FBN1(NM_000138.4):c.7423A>G (p.(Ile2475Val), p.I2475V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001455" "0" "50" "15" "48717640" "48717640" "subst" "6.50264E-5" "01804" "FBN1_000100" "g.48717640T>C" "" "" "" "FBN1(NM_000138.4):c.7379A>G (p.K2460R, p.(Lys2460Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001456" "0" "50" "15" "48719784" "48719784" "subst" "0" "01804" "FBN1_000324" "g.48719784C>A" "" "" "" "FBN1(NM_000138.4):c.7184G>T (p.(Gly2395Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001457" "0" "30" "15" "48720584" "48720584" "subst" "0" "01804" "FBN1_001510" "g.48720584T>C" "" "" "" "FBN1(NM_000138.4):c.6956A>G (p.(Asn2319Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001458" "0" "90" "15" "48722916" "48722916" "subst" "0" "01804" "FBN1_001511" "g.48722916T>G" "" "" "" "FBN1(NM_000138.4):c.6823A>C (p.(Ile2275Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001459" "0" "90" "15" "48722988" "48722988" "subst" "0" "02327" "FBN1_001512" "g.48722988A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001460" "0" "70" "15" "48725104" "48725104" "subst" "0" "02329" "FBN1_001513" "g.48725104G>A" "" "" "" "FBN1(NM_000138.4):c.6698C>T (p.P2233L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001001461" "0" "50" "15" "48729575" "48729575" "subst" "4.07827E-6" "02325" "FBN1_001514" "g.48729575C>T" "" "" "" "FBN1(NM_000138.5):c.6323G>A (p.R2108H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001462" "0" "90" "15" "48730108" "48730108" "subst" "4.06812E-6" "01804" "FBN1_001515" "g.48730108C>T" "" "" "" "FBN1(NM_000138.4):c.6170G>A (p.(Arg2057Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001463" "0" "10" "15" "48739022" "48739022" "subst" "0.00052929" "02329" "FBN1_001516" "g.48739022A>G" "" "" "" "FBN1(NM_000138.4):c.5672-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001001464" "0" "50" "15" "48744809" "48744809" "subst" "4.06524E-6" "01804" "FBN1_000472" "g.48744809C>T" "" "" "" "FBN1(NM_000138.4):c.5495G>A (p.(Arg1832His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001465" "0" "30" "15" "48752317" "48752317" "subst" "0" "02329" "FBN1_001517" "g.48752317G>T" "" "" "" "FBN1(NM_000138.4):c.5296+126C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001466" "0" "50" "15" "48755293" "48755293" "subst" "0" "02327" "FBN1_001518" "g.48755293G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001467" "0" "30" "15" "48755313" "48755313" "subst" "2.03264E-5" "02329" "FBN1_001519" "g.48755313G>A" "" "" "" "FBN1(NM_000138.4):c.5190C>T (p.N1730=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001468" "0" "50" "15" "48756176" "48756176" "subst" "0" "02326" "FBN1_000497" "g.48756176G>T" "" "" "" "FBN1(NM_000138.4):c.4985C>A (p.T1662K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001469" "0" "30" "15" "48756438" "48756438" "subst" "0" "02329" "FBN1_001520" "g.48756438C>T" "" "" "" "FBN1(NM_000138.4):c.4943-220G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001470" "0" "30" "15" "48760122" "48760122" "subst" "4.06666E-6" "02329" "FBN1_001521" "g.48760122G>A" "" "" "" "FBN1(NM_000138.4):c.4747+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001471" "0" "50" "15" "48760670" "48760670" "subst" "0" "02329" "FBN1_001522" "g.48760670G>A" "" "" "" "FBN1(NM_000138.4):c.4521C>T (p.G1507=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001472" "0" "30" "15" "48762962" "48762962" "subst" "2.84977E-5" "02329" "FBN1_000909" "g.48762962G>A" "" "" "" "FBN1(NM_000138.4):c.4337-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001473" "0" "30" "15" "48763008" "48763008" "dup" "0" "01804" "FBN1_001057" "g.48763008dup" "" "" "" "FBN1(NM_000138.4):c.4337-48dupT, FBN1(NM_000138.4):c.4337-48dupT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001474" "0" "30" "15" "48764517" "48764517" "subst" "0" "02329" "FBN1_001523" "g.48764517C>T" "" "" "" "FBN1(NM_000138.4):c.4336+231G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001475" "0" "50" "15" "48764802" "48764802" "subst" "1.2187E-5" "01804" "FBN1_001524" "g.48764802G>A" "" "" "" "FBN1(NM_000138.4):c.4282C>T (p.(Arg1428Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001476" "0" "30" "15" "48764830" "48764830" "subst" "0" "02329" "FBN1_001525" "g.48764830G>C" "" "" "" "FBN1(NM_000138.4):c.4254C>G (p.G1418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001477" "0" "30" "15" "48764891" "48764891" "subst" "8.12539E-6" "02329" "FBN1_001526" "g.48764891C>T" "" "" "" "FBN1(NM_000138.4):c.4211-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001478" "0" "50" "15" "48766532" "48766532" "subst" "0" "01804" "FBN1_001527" "g.48766532T>G" "" "" "" "FBN1(NM_000138.4):c.4130A>C (p.(His1377Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001479" "0" "70" "15" "48766818" "48766818" "del" "0" "01804" "FBN1_001528" "g.48766818del" "" "" "" "FBN1(NM_000138.4):c.3995delA (p.(Asn1332fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001001480" "0" "50" "15" "48777593" "48777593" "subst" "0" "01804" "FBN1_001395" "g.48777593C>T" "" "" "" "FBN1(NM_000138.4):c.3690G>A (p.(Met1230Ile), p.M1230I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001481" "0" "30" "15" "48779274" "48779274" "subst" "0" "01804" "FBN1_001529" "g.48779274A>T" "" "" "" "FBN1(NM_000138.4):c.3587T>A (p.(Val1196Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001482" "0" "30" "15" "48779352" "48779352" "subst" "0.00123452" "01804" "FBN1_000147" "g.48779352C>T" "" "" "" "FBN1(NM_000138.4):c.3509G>A (p.R1170H, p.(Arg1170His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001483" "0" "30" "15" "48779485" "48779485" "subst" "5.68542E-5" "02329" "FBN1_001530" "g.48779485T>C" "" "" "" "FBN1(NM_000138.4):c.3463+24A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001484" "0" "50" "15" "48779562" "48779562" "subst" "4.06088E-5" "02329" "FBN1_001531" "g.48779562C>T" "" "" "" "FBN1(NM_000138.4):c.3410G>A (p.R1137H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001485" "0" "30" "15" "48782071" "48782071" "subst" "0" "01804" "FBN1_001532" "g.48782071G>C" "" "" "" "FBN1(NM_000138.4):c.3059C>G (p.(Thr1020Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001486" "0" "30" "15" "48787148" "48787148" "subst" "0" "02329" "FBN1_001533" "g.48787148A>G" "" "" "" "FBN1(NM_000138.4):c.2677+172T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001487" "0" "50" "15" "48787340" "48787340" "subst" "0" "01804" "FBN1_000687" "g.48787340G>A" "" "" "" "FBN1(NM_000138.4):c.2657C>T (p.(Pro886Leu), p.P886L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001488" "0" "30" "15" "48789528" "48789528" "subst" "1.62477E-5" "01804" "FBN1_000719" "g.48789528C>T" "" "" "" "FBN1(NM_000138.4):c.2228G>A (p.(Arg743His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001489" "0" "30" "15" "48789548" "48789548" "subst" "4.06237E-6" "01804" "FBN1_001292" "g.48789548A>C" "" "" "" "FBN1(NM_000138.4):c.2208T>G (p.(Asn736Lys)), FBN1(NM_000138.5):c.2208T>G (p.N736K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001490" "0" "30" "15" "48789552" "48789552" "subst" "0" "01804" "FBN1_001093" "g.48789552G>C" "" "" "" "FBN1(NM_000138.4):c.2204C>G (p.(Pro735Arg), p.P735R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001491" "0" "50" "15" "48796041" "48796041" "subst" "0" "01804" "FBN1_001534" "g.48796041C>A" "" "" "" "FBN1(NM_000138.4):c.2056G>T (p.(Ala686Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001492" "0" "50" "15" "48802279" "48802279" "subst" "1.62595E-5" "01804" "FBN1_000764" "g.48802279G>A" "" "" "" "FBN1(NM_000138.4):c.1676C>T (p.A559V, p.(Ala559Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001493" "0" "50" "15" "48805748" "48805748" "subst" "2.43889E-5" "01804" "FBN1_001535" "g.48805748C>T" "" "" "" "FBN1(NM_000138.4):c.1586G>A (p.(Arg529Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001494" "0" "30" "15" "48808418" "48808418" "subst" "2.03163E-5" "01804" "FBN1_000180" "g.48808418G>A" "" "" "" "FBN1(NM_000138.4):c.1289C>T (p.P430L, p.(Pro430Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001495" "0" "90" "15" "48808481" "48808481" "dup" "0" "02329" "FBN1_001536" "g.48808481dup" "" "" "" "FBN1(NM_000138.4):c.1227dupT (p.P410Sfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001496" "0" "50" "15" "48808506" "48808506" "subst" "0" "01804" "FBN1_001537" "g.48808506A>T" "" "" "" "FBN1(NM_000138.4):c.1201T>A (p.(Tyr401Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001497" "0" "30" "15" "48808801" "48808801" "subst" "0" "02329" "FBN1_001538" "g.48808801A>G" "" "" "" "FBN1(NM_000138.4):c.1148-242T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001498" "0" "50" "15" "48818328" "48818328" "subst" "4.06204E-6" "01804" "FBN1_001539" "g.48818328T>C" "" "" "" "FBN1(NM_000138.4):c.987A>G (p.(Ile329Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001499" "0" "50" "15" "48888513" "48888513" "subst" "4.06246E-6" "01804" "FBN1_001540" "g.48888513T>C" "" "" "" "FBN1(NM_000138.4):c.505A>G (p.(Thr169Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001500" "0" "50" "15" "48892435" "48892435" "subst" "0" "01804" "FBN1_001541" "g.48892435G>T" "" "" "" "FBN1(NM_000138.4):c.347-4C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001501" "0" "30" "15" "48902952" "48902952" "subst" "0" "01804" "FBN1_001542" "g.48902952T>A" "" "" "" "FBN1(NM_000138.4):c.319A>T (p.(Ile107Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001502" "0" "90" "15" "48902952" "48902952" "del" "0" "01804" "FBN1_001222" "g.48902952del" "" "" "" "FBN1(NM_000138.4):c.319delA (p.(Ile107fs)), FBN1(NM_000138.5):c.319delA (p.I107*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001503" "0" "50" "15" "48905269" "48905269" "subst" "5.32529E-5" "01804" "FBN1_000846" "g.48905269C>T" "" "" "" "FBN1(NM_000138.4):c.185G>A (p.(Arg62His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001504" "0" "30" "15" "48936604" "48936604" "subst" "0" "02329" "FBN1_001543" "g.48936604C>T" "" "" "" "FBN1(NM_000138.4):c.164+199G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001505" "0" "30" "15" "48936624" "48936624" "subst" "0" "02329" "FBN1_001544" "g.48936624G>A" "" "" "" "FBN1(NM_000138.4):c.164+179C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007078" "0" "90" "15" "48936960" "48936960" "subst" "0" "03779" "FBN1_001545" "g.48936960G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs886038797" "0" "" "" "" "" "pathogenic" "" "0001007454" "0" "70" "15" "48796094" "48796094" "subst" "0" "00006" "FBN1_001546" "g.48796094C>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_000138.5:c.2003C>T" "" "Germline" "" "" "0" "" "" "g.48503897C>T" "" "VUS" "" "0001015198" "0" "50" "15" "48704937" "48704937" "subst" "0" "02329" "FBN1_001547" "g.48704937G>C" "" "" "" "FBN1(NM_000138.4):c.8055C>G (p.H2685Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015199" "0" "50" "15" "48707926" "48707926" "subst" "0" "02329" "FBN1_001548" "g.48707926C>T" "" "" "" "FBN1(NM_000138.4):c.7858G>A (p.A2620T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015200" "0" "50" "15" "48707944" "48707944" "subst" "8.13564E-6" "02327" "FBN1_001549" "g.48707944C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015201" "0" "90" "15" "48713790" "48713790" "subst" "0" "02327" "FBN1_001550" "g.48713790C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015202" "0" "50" "15" "48714264" "48714264" "subst" "3.66133E-5" "02329" "FBN1_001551" "g.48714264A>C" "" "" "" "FBN1(NM_000138.4):c.7455T>G (p.D2485E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015203" "0" "90" "15" "48744792" "48744792" "subst" "0" "02329" "FBN1_001552" "g.48744792C>T" "" "" "" "FBN1(NM_000138.4):c.5512G>A (p.G1838S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015204" "0" "50" "15" "48744845" "48744845" "subst" "8.13114E-6" "02327" "FBN1_001553" "g.48744845C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015205" "0" "50" "15" "48766537" "48766537" "subst" "0" "02325" "FBN1_001554" "g.48766537G>C" "" "" "" "FBN1(NM_000138.5):c.4125C>G (p.S1375R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015206" "0" "50" "15" "48777593" "48777593" "subst" "0" "02327" "FBN1_001395" "g.48777593C>T" "" "" "" "FBN1(NM_000138.4):c.3690G>A (p.(Met1230Ile), p.M1230I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015207" "0" "90" "15" "48779389" "48779389" "subst" "0" "02329" "FBN1_001555" "g.48779389C>T" "" "" "" "FBN1(NM_000138.4):c.3472G>A (p.E1158K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015208" "0" "30" "15" "48780602" "48780602" "subst" "9.33972E-5" "02329" "FBN1_001556" "g.48780602G>A" "" "" "" "FBN1(NM_000138.4):c.3171C>T (p.S1057=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015209" "0" "50" "15" "48787361" "48787361" "subst" "0" "02327" "FBN1_001557" "g.48787361A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015210" "0" "90" "15" "48797234" "48797234" "subst" "0" "02329" "FBN1_000740" "g.48797234G>A" "" "" "" "FBN1(NM_000138.4):c.1948C>T (p.R650C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015211" "0" "50" "15" "48905281" "48905281" "subst" "0" "02329" "FBN1_001558" "g.48905281A>T" "" "" "" "FBN1(NM_000138.4):c.173T>A (p.V58D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016792" "0" "70" "15" "48789541" "48789541" "subst" "0" "03779" "FBN1_001559" "g.48789541A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001017881" "0" "70" "15" "48756210" "48756210" "subst" "0" "03779" "FBN1_001560" "g.48756210C>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001019174" "21" "90" "15" "48737579" "48737579" "subst" "0" "00006" "FBN1_001506" "g.48737579A>C" "" "" "" "" "variant de novo in mother" "Germline" "yes" "rs1555395745" "0" "" "" "g.48445382A>C" "{CV-SCV:000787187}" "pathogenic (dominant)" "" "0001021359" "0" "50" "15" "48813002" "48813002" "subst" "0" "03779" "FBN1_001562" "g.48813002C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001021704" "0" "10" "15" "48779550" "48779550" "subst" "0.000889318" "00006" "FBN1_000154" "g.48779550G>A" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48487353G>A" "{CV:42334}" "benign" "ACMG" "0001021705" "0" "30" "15" "48777594" "48777594" "subst" "8.1217E-6" "00006" "FBN1_000598" "g.48777594A>G" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48485397A>G" "{CV:263789}" "likely benign" "ACMG" "0001021706" "0" "90" "15" "48764829" "48764829" "subst" "0" "00006" "FBN1_001585" "g.48764829G>A" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48472632G>A" "{CV:2413173}" "pathogenic" "ACMG" "0001021707" "0" "70" "15" "48719965" "48719965" "subst" "0" "00006" "FBN1_001575" "g.48719965G>A" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48427768G>A" "{CV:200100}" "likely pathogenic" "ACMG" "0001021708" "0" "50" "15" "48744861" "48744861" "subst" "1.62623E-5" "00006" "FBN1_000474" "g.48744861C>T" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48452664C>T" "{CV:200064}" "VUS" "ACMG" "0001021709" "0" "50" "15" "48936908" "48936908" "subst" "0.00015437" "00006" "FBN1_000202" "g.48936908T>C" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48644711T>C" "{CV:161245}" "VUS" "ACMG" "0001021710" "0" "90" "15" "48719763" "48719763" "subst" "0" "00006" "FBN1_001573" "g.48719763C>A" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48427566C>A" "{CV:549394}" "pathogenic" "ACMG" "0001021711" "0" "90" "15" "48762831" "48762831" "subst" "0" "00006" "FBN1_001583" "g.48762831C>T" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48470634C>T" "{CV:549232}" "pathogenic" "ACMG" "0001021712" "0" "70" "15" "48788355" "48788355" "dup" "0" "00006" "FBN1_001591" "g.48788355dup" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48496158dup" "{CV:2413175}" "likely pathogenic" "ACMG" "0001021713" "0" "30" "15" "48782072" "48782072" "subst" "0.000459223" "00006" "FBN1_000659" "g.48782072T>C" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48489875T>C" "{CV:42325}" "likely benign" "ACMG" "0001021714" "0" "90" "15" "48766508" "48766513" "del" "0" "00006" "FBN1_001586" "g.48766508_48766513del" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48474311_48474316del" "{CV:2413170}" "pathogenic" "ACMG" "0001021715" "0" "50" "15" "48764870" "48764870" "subst" "0.000109664" "00006" "FBN1_000558" "g.48764870A>C" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48472673A>C" "{CV:200041}" "VUS" "ACMG" "0001021716" "0" "90" "15" "48717636" "48717636" "del" "0" "00006" "FBN1_001570" "g.48717636del" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48425439del" "{CV:1325453}" "pathogenic" "ACMG" "0001021717" "0" "50" "15" "48713811" "48713811" "subst" "0" "00006" "FBN1_001567" "g.48713811A>T" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48421614A>T" "{CV:2413174}" "VUS" "ACMG" "0001021718" "0" "10" "15" "48704816" "48704816" "subst" "0.000722878" "00006" "FBN1_000246" "g.48704816G>A" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48412619G>A" "{CV:16445}" "benign" "ACMG" "0001021719" "0" "10" "15" "48703440" "48703440" "subst" "6.90524E-5" "00006" "FBN1_000234" "g.48703440G>A" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48411243G>A" "{CV:263832}" "benign" "ACMG" "0001021720" "0" "30" "15" "48818330" "48818330" "subst" "4.06217E-6" "00006" "FBN1_001594" "g.48818330T>C" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48526133T>C" "{CV:549475}" "likely benign" "ACMG" "0001021721" "0" "70" "15" "48796051" "48796069" "del" "0" "00006" "FBN1_001592" "g.48796051_48796069del" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48503854_48503872del" "{CV:2413171}" "likely pathogenic" "ACMG" "0001021722" "0" "10" "15" "48779352" "48779352" "subst" "0.00123452" "00006" "FBN1_000147" "g.48779352C>T" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48487155C>T" "{CV:16451}" "benign" "ACMG" "0001021723" "0" "70" "15" "48726902" "48726902" "subst" "0" "00006" "FBN1_001576" "g.48726902C>A" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48434705C>A" "{CV:2413172}" "likely pathogenic" "ACMG" "0001021724" "0" "90" "15" "48714179" "48714179" "subst" "0" "00006" "FBN1_001569" "g.48714179C>A" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48421982C>A" "{CV:2506018}" "pathogenic" "ACMG" "0001021725" "0" "70" "15" "48713877" "48713877" "subst" "0" "00006" "FBN1_000298" "g.48713877T>C" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48421680T>C" "{CV:200198}" "likely pathogenic" "ACMG" "0001021726" "0" "70" "15" "48787328" "48787328" "subst" "0" "00006" "FBN1_000686" "g.48787328C>T" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48495131C>T" "{CV:431935}" "likely pathogenic" "ACMG" "0001021727" "0" "50" "15" "48760725" "48760725" "subst" "0" "00006" "FBN1_000529" "g.48760725T>C" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48468528T>C" "{CV:373598}" "VUS" "ACMG" "0001021728" "0" "70" "15" "48760304" "48760304" "subst" "0" "00006" "FBN1_001582" "g.48760304T>C" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48468107T>C" "{CV:406332}" "likely pathogenic" "ACMG" "0001021729" "0" "10" "15" "48760242" "48760242" "subst" "2.84516E-5" "00006" "FBN1_000515" "g.48760242G>A" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48468045G>A" "{CV:42367}" "benign" "ACMG" "0001021730" "0" "70" "15" "48738956" "48738958" "del" "0" "00006" "FBN1_001578" "g.48738956_48738958del" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48446759_48446761del" "{CV:2506004}" "likely pathogenic" "ACMG" "0001021731" "0" "70" "15" "48829915" "48829915" "subst" "0" "00006" "FBN1_000812" "g.48829915C>T" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48537718C>T" "{CV:426140}" "likely pathogenic" "ACMG" "0001021732" "0" "90" "15" "48719802" "48719803" "del" "0" "00006" "FBN1_001574" "g.48719802_48719803del" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48427605_48427606del" "{CV:42420}" "pathogenic" "ACMG" "0001021733" "0" "70" "15" "48826336" "48826342" "del" "0" "00006" "FBN1_001595" "g.48826336_48826342del" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48534139_48534145del" "{CV:406374}" "likely pathogenic" "ACMG" "0001021734" "0" "50" "15" "48796139" "48796139" "subst" "0" "00006" "FBN1_001593" "g.48796139A>C" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "not yet formally curated" "SUMMARY record" "" "" "0" "" "" "g.48503942A>C" "{CV:16445}" "VUS" "ACMG" "0001021735" "0" "90" "15" "48777680" "48777680" "subst" "0" "00006" "FBN1_001589" "g.48777680G>T" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48485483G>T" "{CV:2581043}" "pathogenic" "ACMG" "0001021736" "0" "70" "15" "48760184" "48760184" "del" "0" "00006" "FBN1_001581" "g.48760184del" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48467987del" "{CV:626879}" "likely pathogenic" "ACMG" "0001021737" "0" "70" "15" "48713761" "48713762" "delins" "0" "00006" "FBN1_001566" "g.48713761_48713762delinsTTCACCTTCCAGATCACC" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "not yet formally curated" "SUMMARY record" "" "" "0" "" "" "g.48421564_48421565delinsTTCACCTTCCAGATCACC" "" "likely pathogenic" "ACMG" "0001021738" "0" "90" "15" "48936966" "48936966" "subst" "0" "00006" "FBN1_001596" "g.48936966T>G" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48644769T>G" "{CV:495569 }" "pathogenic" "ACMG" "0001021739" "0" "10" "15" "48782174" "48782174" "subst" "0.00118987" "00006" "FBN1_000663" "g.48782174C>T" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48489977C>T" "{CV:36060}" "benign" "ACMG" "0001021740" "0" "10" "15" "48818329" "48818329" "subst" "0.00155168" "00006" "FBN1_000186" "g.48818329A>G" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48526132A>G" "{CV:36133}" "benign" "ACMG" "0001021741" "0" "90" "15" "48707733" "48707733" "delins" "0" "00006" "FBN1_001565" "g.48707733delinsAA" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48415536delinsAA" "{CV:549451}" "pathogenic" "ACMG" "0001021742" "0" "90" "15" "48704912" "48704912" "subst" "0" "00006" "FBN1_001564" "g.48704912G>A" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48412715G>A" "{CV:163461}" "pathogenic" "ACMG" "0001021743" "0" "70" "15" "48777651" "48777653" "del" "0" "00006" "FBN1_001587" "g.48777651_48777653del" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48485454_48485456del" "{CV:549178}" "likely pathogenic" "ACMG" "0001021744" "0" "90" "15" "48762876" "48762876" "subst" "0" "00006" "FBN1_001584" "g.48762876A>G" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48470679A>G" "{CV:549229}" "pathogenic" "ACMG" "0001021745" "0" "90" "15" "48729201" "48729201" "subst" "0" "00006" "FBN1_000118" "g.48729201G>A" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48437004G>A" "{CV:200193}" "pathogenic" "ACMG" "0001021746" "0" "90" "15" "48714179" "48714179" "subst" "0" "00006" "FBN1_000299" "g.48714179C>T" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48421982C>T" "{CV:178034}" "pathogenic" "ACMG" "0001021747" "0" "10" "15" "48936888" "48936888" "subst" "0.000471074" "00006" "FBN1_000201" "g.48936888C>T" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48644691C>T" "{CV:163486}" "benign" "ACMG" "0001021748" "0" "70" "15" "48777660" "48777660" "del" "0" "00006" "FBN1_001588" "g.48777660del" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "not yet formally curated" "SUMMARY record" "" "" "0" "" "" "g.48485463del" "{CV:549177}" "likely pathogenic" "ACMG" "0001021749" "0" "50" "15" "48786466" "48786466" "subst" "0" "00006" "FBN1_001590" "g.48786466G>T" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "not yet formally curated" "SUMMARY record" "" "" "0" "" "" "g.48494269G>T" "{CV:446494}" "VUS" "ACMG" "0001021750" "0" "50" "15" "48780352" "48780352" "subst" "8.12163E-6" "00006" "FBN1_001085" "g.48780352C>T" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "not yet formally curated" "SUMMARY record" "" "" "0" "" "" "g.48488155C>T" "{CV:457191}" "VUS" "ACMG" "0001021751" "0" "30" "15" "48764814" "48764814" "subst" "0.00019497" "00006" "FBN1_000552" "g.48764814G>C" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "not yet formally curated" "SUMMARY record" "" "" "0" "" "" "g.48472617G>C" "{CV:42355}" "likely benign" "ACMG" "0001021752" "0" "50" "15" "48757772" "48757772" "subst" "0" "00006" "FBN1_001580" "g.48757772C>T" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "not yet formally curated" "SUMMARY record" "" "" "0" "" "" "g.48465575C>T" "{CV:263692}" "VUS" "ACMG" "0001021753" "0" "30" "15" "48734008" "48734008" "subst" "0.00031759" "00006" "FBN1_000123" "g.48734008C>A" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "not yet formally curated" "SUMMARY record" "" "" "0" "" "" "g.48441811C>A" "{CV:36097}" "likely benign" "ACMG" "0001021754" "0" "90" "15" "48719928" "48719929" "del" "0" "00006" "FBN1_001227" "g.48719928_48719929del" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "not yet formally curated" "SUMMARY record" "" "" "0" "" "" "g.48427731_48427732del" "{CV:200171}" "pathogenic" "ACMG" "0001021755" "0" "70" "15" "48718007" "48718007" "subst" "0" "00006" "FBN1_001572" "g.48718007T>C" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "not yet formally curated" "SUMMARY record" "" "" "0" "" "" "g.48425810T>C" "{CV:1319506}" "likely pathogenic" "ACMG" "0001021756" "0" "90" "15" "48717655" "48717658" "delins" "0" "00006" "FBN1_001571" "g.48717655_48717658delinsT" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "not yet formally curated" "SUMMARY record" "" "" "0" "" "" "g.48425458_48425461delinsT" "" "pathogenic" "ACMG" "0001021757" "0" "50" "15" "48713869" "48713869" "subst" "0" "00006" "FBN1_001568" "g.48713869T>G" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "not yet formally curated" "SUMMARY record" "" "" "0" "" "" "g.48421672T>G" "" "VUS" "ACMG" "0001021758" "0" "30" "15" "48704843" "48704843" "subst" "0.000138073" "00006" "FBN1_000248" "g.48704843C>T" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "not yet formally curated" "SUMMARY record" "" "" "0" "" "" "g.48412646C>T" "{CV:237106}" "likely benign" "ACMG" "0001021759" "0" "90" "15" "48703277" "48703281" "del" "0" "00006" "FBN1_001563" "g.48703277_48703281del" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48411080_48411084del" "{CV:419823}" "pathogenic" "ACMG" "0001021760" "0" "90" "15" "48703477" "48703477" "subst" "4.06388E-5" "00006" "FBN1_001225" "g.48703477G>A" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48411280G>A" "{CV:16439}" "pathogenic" "ACMG" "0001021761" "0" "90" "15" "48738898" "48738898" "subst" "0" "00006" "FBN1_001101" "g.48738898C>T" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "not yet formally curated" "SUMMARY record" "" "" "0" "" "" "g.48446701C>T" "{CV:42394}" "pathogenic" "ACMG" "0001021762" "0" "50" "15" "48717607" "48717607" "subst" "2.03148E-5" "00006" "FBN1_000099" "g.48717607G>C" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "not yet formally curated" "SUMMARY record" "" "" "0" "" "" "g.48425410G>C" "{CV:36115}" "VUS" "ACMG" "0001021763" "0" "90" "15" "48738948" "48738948" "subst" "0" "00006" "FBN1_001577" "g.48738948G>A" "" "{PMID:Drackley 2024:39741318}, {DOI:Drackley 2024:10.1186/s13073-024-01423-3}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.48446751G>A" "{CV:495629}" "pathogenic" "ACMG" "0001022053" "0" "30" "15" "48729990" "48729990" "subst" "8.55251E-5" "04796" "FBN1_000885" "g.48729990G>A" "" "" "" "" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.48437793G>A" "" "likely benign" "" "0001022195" "0" "70" "15" "48752438" "48752438" "subst" "0" "04796" "FBN1_001579" "g.48752438C>T" "" "" "" "" "effect on RNA exon skipping" "Germline/De novo (untested)" "" "" "0" "" "" "g.48460241C>T" "" "likely pathogenic" "" "0001026441" "0" "30" "15" "48704960" "48704960" "subst" "2.4432E-5" "02329" "FBN1_001597" "g.48704960T>C" "" "" "" "FBN1(NM_000138.4):c.8052-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026442" "0" "90" "15" "48712977" "48712977" "subst" "4.07256E-6" "02329" "FBN1_000286" "g.48712977G>A" "" "" "" "FBN1(NM_000138.4):c.7726C>T (p.R2576C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026443" "0" "30" "15" "48714026" "48714026" "subst" "0" "02329" "FBN1_001598" "g.48714026C>A" "" "" "" "FBN1(NM_000138.4):c.7570+123G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026444" "0" "90" "15" "48717944" "48717944" "del" "0" "02326" "FBN1_000102" "g.48717944del" "" "" "" "FBN1(NM_000138.4):c.7323delC (p.C2442Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026445" "0" "50" "15" "48719964" "48719964" "subst" "0" "02325" "FBN1_001599" "g.48719964C>A" "" "" "" "FBN1(NM_000138.5):c.7004G>T (p.R2335L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026446" "0" "90" "15" "48722950" "48722950" "del" "0" "02327" "FBN1_001600" "g.48722950del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026447" "0" "30" "15" "48725121" "48725121" "subst" "0.00107006" "02326" "FBN1_000112" "g.48725121T>G" "" "" "" "FBN1(NM_000138.4):c.6681A>C (p.S2227=), FBN1(NM_000138.5):c.6681A>C (p.(Ser2227=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026448" "0" "30" "15" "48734051" "48734051" "subst" "0.000653921" "02329" "FBN1_001077" "g.48734051A>T" "" "" "" "FBN1(NM_000138.4):c.6038-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026449" "0" "90" "15" "48756097" "48756097" "del" "0" "02329" "FBN1_001601" "g.48756097del" "" "" "" "FBN1(NM_000138.4):c.5065+1delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026450" "0" "30" "15" "48760232" "48760232" "subst" "2.43855E-5" "02329" "FBN1_001602" "g.48760232G>A" "" "" "" "FBN1(NM_000138.4):c.4650C>T (p.S1550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026451" "0" "30" "15" "48779352" "48779352" "subst" "0.00123452" "02327" "FBN1_000147" "g.48779352C>T" "" "" "" "FBN1(NM_000138.4):c.3509G>A (p.R1170H, p.(Arg1170His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026452" "0" "90" "15" "48779509" "48779509" "subst" "0" "02327" "FBN1_000616" "g.48779509C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026453" "0" "50" "15" "48780419" "48780419" "subst" "0" "02329" "FBN1_001603" "g.48780419T>C" "" "" "" "FBN1(NM_000138.4):c.3228A>G (p.I1076M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026454" "0" "30" "15" "48782196" "48782196" "subst" "0.000308639" "02329" "FBN1_000668" "g.48782196G>C" "" "" "" "FBN1(NM_000138.4):c.2934C>G (p.D978E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026455" "0" "30" "15" "48784790" "48784790" "del" "0" "02329" "FBN1_000161" "g.48784790del" "" "" "" "FBN1(NM_000138.4):c.2729-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026456" "0" "90" "15" "48791218" "48791218" "subst" "0" "02329" "FBN1_001604" "g.48791218A>C" "" "" "" "FBN1(NM_000138.4):c.2131T>G (p.C711G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026457" "0" "30" "15" "48797208" "48797208" "subst" "8.12315E-6" "02329" "FBN1_001605" "g.48797208T>C" "" "" "" "FBN1(NM_000138.4):c.1960+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026458" "0" "90" "15" "48805838" "48805838" "subst" "0" "02329" "FBN1_001606" "g.48805838C>G" "" "" "" "FBN1(NM_000138.4):c.1496G>C (p.C499S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026459" "0" "50" "15" "48826325" "48826325" "subst" "1.21825E-5" "02329" "FBN1_000805" "g.48826325T>G" "" "" "" "FBN1(NM_000138.4):c.814A>C (p.K272Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026460" "0" "50" "15" "48936944" "48936944" "subst" "0" "02329" "FBN1_001607" "g.48936944T>G" "" "" "" "FBN1(NM_000138.4):c.23A>C (p.E8A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040394" "0" "50" "15" "48719782" "48719782" "subst" "4.06815E-6" "01804" "FBN1_000872" "g.48719782A>G" "" "" "" "FBN1(NM_000138.4):c.7186T>C (p.F2396L), FBN1(NM_000138.5):c.7186T>C (p.(Phe2396Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040395" "0" "30" "15" "48720608" "48720608" "subst" "2.03239E-5" "01804" "FBN1_000344" "g.48720608C>T" "" "" "" "FBN1(NM_000138.5):c.6932G>A (p.(Arg2311His), p.R2311H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040396" "0" "30" "15" "48725121" "48725121" "subst" "0.00107006" "01804" "FBN1_000112" "g.48725121T>G" "" "" "" "FBN1(NM_000138.4):c.6681A>C (p.S2227=), FBN1(NM_000138.5):c.6681A>C (p.(Ser2227=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040397" "0" "50" "15" "48725143" "48725143" "subst" "8.13862E-6" "01804" "FBN1_000113" "g.48725143C>T" "" "" "" "FBN1(NM_000138.4):c.6659G>A (p.R2220Q), FBN1(NM_000138.5):c.6659G>A (p.(Arg2220Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040398" "0" "50" "15" "48734026" "48734026" "subst" "1.63026E-5" "01804" "FBN1_000124" "g.48734026C>T" "" "" "" "FBN1(NM_000138.4):c.6055G>A (p.E2019K), FBN1(NM_000138.5):c.6055G>A (p.(Glu2019Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040399" "0" "50" "15" "48741027" "48741027" "subst" "0" "02329" "FBN1_001608" "g.48741027C>G" "" "" "" "FBN1(NM_000138.4):c.5609G>C (p.G1870A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040400" "0" "90" "15" "48744792" "48744792" "subst" "0" "02326" "FBN1_001552" "g.48744792C>T" "" "" "" "FBN1(NM_000138.4):c.5512G>A (p.G1838S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040401" "0" "90" "15" "48748833" "48748833" "subst" "0" "02329" "FBN1_001609" "g.48748833C>A" "" "" "" "FBN1(NM_000138.4):c.5422+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040402" "0" "90" "15" "48748888" "48748888" "subst" "0" "02329" "FBN1_001610" "g.48748888G>A" "" "" "" "FBN1(NM_000138.4):c.5368C>T (p.R1790*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040403" "0" "90" "15" "48755320" "48755320" "subst" "0" "01804" "FBN1_000484" "g.48755320G>A" "" "" "" "FBN1(NM_000138.5):c.5183C>T (p.(Ala1728Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040404" "0" "90" "15" "48755343" "48755343" "subst" "0" "02329" "FBN1_001611" "g.48755343G>C" "" "" "" "FBN1(NM_000138.4):c.5160C>G (p.C1720W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040405" "0" "50" "15" "48757801" "48757801" "subst" "4.06385E-6" "01804" "FBN1_001612" "g.48757801C>T" "" "" "" "FBN1(NM_000138.5):c.4906G>A (p.(Gly1636Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040406" "0" "50" "15" "48757813" "48757813" "subst" "4.06395E-6" "01804" "FBN1_001613" "g.48757813G>A" "" "" "" "FBN1(NM_000138.5):c.4894C>T (p.(Arg1632Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040407" "0" "30" "15" "48758053" "48758053" "subst" "0.000150627" "01804" "FBN1_000505" "g.48758053C>T" "" "" "" "FBN1(NM_000138.5):c.4750G>A (p.(Glu1584Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040408" "0" "90" "15" "48760739" "48760739" "subst" "4.06851E-6" "01804" "FBN1_000906" "g.48760739C>T" "" "" "" "FBN1(NM_000138.4):c.4460-8G>A, FBN1(NM_000138.5):c.4460-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040409" "0" "50" "15" "48764807" "48764807" "subst" "2.03097E-5" "01804" "FBN1_001614" "g.48764807C>G" "" "" "" "FBN1(NM_000138.5):c.4277G>C (p.(Gly1426Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040410" "0" "70" "15" "48766500" "48766500" "subst" "4.06303E-6" "01804" "FBN1_001615" "g.48766500G>A" "" "" "" "FBN1(NM_000138.5):c.4162C>T (p.(Arg1388Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001040411" "0" "50" "15" "48766547" "48766547" "subst" "0" "01804" "FBN1_001616" "g.48766547T>C" "" "" "" "FBN1(NM_000138.5):c.4115A>G (p.(His1372Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040412" "0" "70" "15" "48777571" "48777571" "subst" "0" "01804" "FBN1_000597" "g.48777571C>T" "" "" "" "FBN1(NM_000138.5):c.3712G>A (p.(Asp1238Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001040413" "0" "30" "15" "48779639" "48779639" "subst" "0" "01804" "FBN1_001617" "g.48779639A>G" "" "" "" "FBN1(NM_000138.5):c.3338-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040414" "0" "50" "15" "48780628" "48780628" "subst" "1.62429E-5" "01804" "FBN1_000157" "g.48780628C>T" "" "" "" "FBN1(NM_000138.4):c.3145G>A (p.G1049S), FBN1(NM_000138.5):c.3145G>A (p.(Gly1049Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040415" "0" "50" "15" "48782200" "48782200" "subst" "1.62437E-5" "01804" "FBN1_000670" "g.48782200A>C" "" "" "" "FBN1(NM_000138.5):c.2930T>G (p.(Met977Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040416" "0" "30" "15" "48789602" "48789602" "subst" "0" "02329" "FBN1_001618" "g.48789602A>G" "" "" "" "FBN1(NM_000138.4):c.2168-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040417" "0" "50" "15" "48812962" "48812962" "subst" "0" "01804" "FBN1_001619" "g.48812962G>T" "" "" "" "FBN1(NM_000138.5):c.1041C>A (p.(Asn347Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040418" "0" "30" "15" "48888476" "48888476" "subst" "0.000333206" "01804" "FBN1_000965" "g.48888476T>C" "" "" "" "FBN1(NM_000138.4):c.538+4A>G, FBN1(NM_000138.5):c.538+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040419" "0" "70" "15" "48902965" "48902982" "del" "0" "02326" "FBN1_001620" "g.48902965_48902982del" "" "" "" "FBN1(NM_000138.4):c.292_309delAATATGTGCACTTGCCCA (p.N98_P103del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046492" "0" "90" "15" "48707809" "48707809" "subst" "0" "02327" "FBN1_001621" "g.48707809A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046493" "0" "90" "15" "48712949" "48712949" "subst" "1.62819E-5" "02327" "FBN1_000213" "g.48712949A>G" "" "" "" "FBN1(NM_000138.4):c.7754T>C (p.I2585T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046494" "0" "70" "15" "48722873" "48722873" "subst" "0" "02327" "FBN1_001622" "g.48722873C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046495" "0" "50" "15" "48787697" "48787697" "subst" "8.13703E-6" "02327" "FBN1_000167" "g.48787697A>T" "" "" "" "FBN1(NM_000138.4):c.2508T>A (p.S836R), FBN1(NM_000138.5):c.2508T>A (p.S836R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046496" "0" "50" "15" "48905225" "48905225" "subst" "0" "02327" "FBN1_000841" "g.48905225C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001048195" "0" "10" "15" "48818413" "48818413" "subst" "0.000190913" "00006" "FBN1_000801" "g.48818413C>A" "" "{PMID:Plachy 2019:30753492}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.48526216C>A" "" "benign" "" ## 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 = 2281 "{{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" "90" "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" "90" "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)" "" "0000283050" "00007761" "70" "5951" "0" "5956" "0" "c.5951_5956dup" "r.(?)" "p.(Ala1985_Pro1986insArgAla)" "" "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" "30" "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)" "" "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.(?)" 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"p.Val2568Met" "63" "0000459684" "00007761" "70" "7708" "0" "7708" "0" "c.7708G>A" "r.(?)" "p.Glu2570Lys" "63" "0000459685" "00007761" "70" "7726" "0" "7726" "0" "c.7726C>T" "r.(?)" "p.Arg2576Cys" "63" "0000459686" "00007761" "90" "7754" "0" "7754" "0" "c.7754T>C" "r.(?)" "p.Ile2585Thr" "63" "0000459687" "00007761" "70" "7769" "0" "7769" "0" "c.7769G>A" "r.(?)" "p.Cys2590Tyr" "63" "0000459688" "00007761" "70" "7770" "0" "7770" "0" "c.7770C>G" "r.(?)" "p.Cys2590Trp" "63" "0000459689" "00007761" "70" "7775" "0" "7775" "0" "c.7775G>A" "r.(?)" "p.Cys2592Tyr" "63" "0000459690" "00007761" "70" "7775" "0" "7775" "0" "c.7775G>T" "r.(?)" "p.Cys2592Phe" "63" "0000459691" "00007761" "50" "7784" "0" "7784" "0" "c.7784G>T" "r.(?)" "p.Gly2595Val" "63" "0000459692" "00007761" "70" "7828" "0" "7828" "0" "c.7828G>A" "r.(?)" "p.Glu2610Lys" "64" "0000459693" "00007761" "70" "7832" "0" "7832" "0" "c.7832G>A" "r.(?)" "p.Cys2611Tyr" "64" "0000459694" "00007761" "30" "7846" "0" "7846" "0" "c.7846A>G" "r.(?)" "p.Ile2616Val" "64" "0000459695" "00007761" "50" "7848" "0" "7848" "0" "c.7848C>G" "r.(?)" "p.Ile2616Met" "64" "0000459696" "00007761" "50" "7852" "0" "7852" "0" "c.7852G>A" "r.(?)" "p.Gly2618Arg" "64" "0000459697" "00007761" "70" "7862" "0" "7862" "0" "c.7862C>G" "r.(?)" "p.Ser2621Cys" "64" "0000459698" "00007761" "50" "7877" "0" "7877" "0" "c.7877T>A" "r.(?)" "p.Leu2626Gln" "64" "0000459699" "00007761" "70" "7879" "0" "7879" "0" "c.7879G>A" "r.(?)" "p.Gly2627Arg" "64" "0000459700" "00007761" "70" "7879" "0" "7879" "0" "c.7879G>C" "r.(?)" "p.Gly2627Arg" "64" "0000459701" "00007761" "70" "7892" "0" "7892" "0" "c.7892G>A" "r.(?)" "p.Cys2631Tyr" "64" "0000459702" "00007761" "70" "7898" "0" "7898" "0" "c.7898G>C" "r.(?)" "p.Cys2633Ser" "64" "0000459703" "00007761" "50" "7906" "0" "7906" "0" "c.7906G>A" "r.(?)" "p.Gly2636Ser" "64" "0000459704" "00007761" "90" "7916" "0" "7916" "0" "c.7916A>G" "r.(?)" "p.Tyr2639Cys" "64" "0000459705" "00007761" "50" "7949" "0" "7949" "0" "c.7949A>G" "r.(?)" "p.Asn2650Ser" "64" "0000459706" "00007761" "70" "7955" "0" "7955" "0" "c.7955G>A" "r.(?)" "p.Cys2652Tyr" "64" "0000459707" "00007761" "30" "7964" "0" "7964" "0" "c.7964C>T" "r.(?)" "p.Ala2655Val" "64" "0000459708" "00007761" "50" "7980" "0" "7980" "0" "c.7980C>G" "r.(?)" "p.Ser2660Arg" "64" "0000459709" "00007761" "70" "7994" "0" "7994" "0" "c.7994A>G" "r.(?)" "p.Asn2665Ser" "64" "0000459710" "00007761" "30" "7999" "0" "7999" "0" "c.7999G>A" "r.(?)" "p.Glu2667Lys" "64" "0000459711" "00007761" "70" "8002" "0" "8002" "0" "c.8002G>T" "r.(?)" "p.Gly2668Cys" "64" "0000459712" "00007761" "70" "8005" "0" "8005" "0" "c.8005G>T" "r.(?)" "p.Gly2669Cys" "64" "0000459713" "00007761" "50" "8006" "0" "8006" "0" "c.8006G>T" "r.(?)" "p.Gly2669Val" "64" "0000459714" "00007761" "70" "8016" "0" "8016" "0" "c.8016T>G" "r.(?)" "p.Cys2672Trp" "64" "0000459715" "00007761" "70" "8020" "0" "8020" "0" "c.8020T>C" "r.(?)" "p.Cys2674Arg" "64" "0000459716" "00007761" "70" "8021" "0" "8021" "0" "c.8021G>A" "r.(?)" "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" "50" "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)" "" "0000554568" "00007761" "30" "6700" "0" "6700" "0" "c.6700G>A" "r.(?)" "p.(Val2234Met)" "" "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)" "" "0000554586" "00007761" "70" "5885" "0" "5885" "0" "c.5885A>G" "r.(?)" "p.(Tyr1962Cys)" "" "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" "50" "4214" "0" "4214" "0" "c.4214T>G" "r.(?)" "p.(Leu1405Arg)" "" "0000554617" "00007761" "30" "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)" "" "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)" "" "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" "70" "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" "-1" "1837" "1" "c.(1468+1_1469-1)_(1837+1_1838-1)del" "r.?" "p.?" "12i_15i" "0000667879" "00007761" "70" "1469" "-1" "1837" "1" "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" "-1" "7819" "1" "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" "10" "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.(=)" "" "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" "50" "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.(=)" "" "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)" "" "0000790299" "00007761" "90" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62Cys)" "" "0000790300" "00007761" "90" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "0000790301" "00007761" "70" "1948" "0" "1948" "0" "c.1948C>T" "r.(?)" "p.(Arg650Cys)" "" "0000790302" "00007761" "50" "4096" "0" "4096" "0" "c.4096G>A" "r.(?)" "p.(Glu1366Lys)" "" "0000790303" "00007761" "70" "2848" "0" "2848" "0" "c.2848T>C" "r.(?)" "p.(Cys950Arg)" "" "0000790304" "00007761" "70" "1879" "0" "1879" "0" "c.1879C>T" "r.(?)" "p.(Arg627Cys)" "" "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.8264del" "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" "-1" "4336" "1" "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)" "" "0000793752" "00007761" "70" "5549" "0" "5549" "0" "c.5549G>A" "r.(?)" "p.(Arg1850His)" "46" "0000806719" "00007761" "30" "8310" "0" "8310" "0" "c.8310C>T" "r.(?)" "p.(His2770=)" "" "0000806720" "00007761" "50" "7906" "0" "7906" "0" "c.7906G>A" "r.(?)" "p.(Gly2636Ser)" "" "0000806721" "00007761" "30" "7902" "0" "7902" "0" "c.7902C>G" "r.(?)" "p.(Pro2634=)" "" "0000806722" "00007761" "50" "7727" "0" "7727" "0" "c.7727G>T" "r.(?)" "p.(Arg2576Leu)" "" "0000806723" "00007761" "50" "7684" "0" "7684" "0" "c.7684G>A" "r.(?)" "p.(Gly2562Ser)" "" "0000806724" "00007761" "30" "7098" "0" "7098" "0" "c.7098C>T" "r.(?)" "p.(Asp2366=)" "" "0000806725" "00007761" "30" "5556" "0" "5556" "0" "c.5556A>G" "r.(?)" "p.(Glu1852=)" "" "0000806726" "00007761" "50" "5293" "0" "5293" "0" "c.5293G>A" "r.(?)" "p.(Val1765Ile)" "" "0000806727" "00007761" "50" "5179" "0" "5179" "0" "c.5179C>T" "r.(?)" "p.(Arg1727Trp)" "" "0000806728" "00007761" "30" "5065" "17" "5065" "17" "c.5065+17C>T" "r.(=)" "p.(=)" "" "0000806729" "00007761" "90" "4979" "0" "4979" "0" "c.4979del" "r.(?)" "p.(Pro1660Glnfs*22)" "" "0000806730" "00007761" "30" "4727" "0" "4727" "0" "c.4727T>C" "r.(?)" "p.(Met1576Thr)" "" "0000806731" "00007761" "30" "3890" "0" "3890" "0" "c.3890A>G" "r.(?)" "p.(Glu1297Gly)" "" "0000806732" "00007761" "70" "3409" "0" "3409" "0" "c.3409C>G" "r.(?)" "p.(Arg1137Gly)" "" "0000806733" "00007761" "50" "3368" "0" "3368" "0" "c.3368T>A" "r.(?)" "p.(Leu1123Gln)" "" "0000806734" "00007761" "90" "3338" "-1" "3338" "-1" "c.3338-1G>A" "r.spl?" "p.?" "" "0000806735" "00007761" "50" "3145" "0" "3145" "0" "c.3145G>A" "r.(?)" "p.(Gly1049Ser)" "" "0000806736" "00007761" "10" "3082" "6" "3082" "6" "c.3082+6A>G" "r.(=)" "p.(=)" "" "0000806738" "00007761" "50" "2115" "0" "2115" "0" "c.2115G>A" "r.(?)" "p.(Ala705=)" "" "0000806739" "00007761" "30" "1837" "54" "1837" "54" "c.1837+54A>C" "r.(=)" "p.(=)" "" "0000806740" "00007761" "50" "1579" "0" "1579" "0" "c.1579G>A" "r.(?)" "p.(Glu527Lys)" "" "0000806741" "00007761" "30" "1217" "0" "1217" "0" "c.1217T>A" "r.(?)" "p.(Leu406His)" "" "0000806742" "00007761" "30" "863" "-26" "863" "-26" "c.863-26C>T" "r.(=)" "p.(=)" "" "0000806743" "00007761" "90" "539" "-1" "539" "-1" "c.539-1G>T" "r.spl?" "p.?" "" "0000806744" "00007761" "30" "347" "-13" "347" "-11" "c.347-13_347-11del" "r.(=)" "p.(=)" "" "0000806745" "00007761" "50" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Val58Ile)" "" "0000811199" "00007761" "70" "3518" "0" "3518" "0" "c.3518A>G" "r.(?)" "p.(Asn1173Ser)" "" "0000812526" "00007761" "70" "2179" "0" "2179" "0" "c.2179T>C" "r.(?)" "p.(Cys727Arg)" "" "0000812587" "00007761" "90" "4582" "4" "4582" "4" "c.4582+4dup" "r.spl?" "p.(?)" "" "0000812594" "00007761" "70" "2584" "0" "2584" "0" "c.2584T>A" "r.(?)" "p.(Cys862Ser)" "" "0000812686" "00007761" "90" "2114" "-1" "2114" "-1" "c.2114-1G>C" "r.spl" "p.(?)" "" "0000812720" "00007761" "70" "7936" "0" "7936" "0" "c.7936T>C" "r.(?)" "p.(Cys2646Arg)" "" "0000812746" "00007761" "70" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000812757" "00007761" "70" "2585" "0" "2585" "0" "c.2585G>A" "r.(?)" "p.(Cys862Tyr)" "" "0000812813" "00007761" "70" "4260" "0" "4260" "0" "c.4260C>G" "r.(?)" "p.(Cys1420Trp)" "" "0000812836" "00007761" "70" "6987" "0" "6987" "0" "c.6987C>G" "r.(?)" "p.(Asp2329Glu)" "" "0000814415" "00007761" "70" "6354" "0" "6354" "0" "c.6354C>T" "r.(?)" "p.(Ile2118=)" "" "0000814426" "00007761" "50" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Cys119Tyr)" "" "0000815861" "00007761" "70" "7713" "0" "7713" "0" "c.7713T>G" "r.(?)" "p.(Cys2571Trp)" "" "0000829763" "00007761" "70" "5546" "-1" "5917" "1" "c.(5545+1_5546-1)_(5917+1_5918-1)del" "r.?" "p.?" "" "0000829769" "00007761" "70" "6740" "-1" "6997" "1" "c.(6739+1_6740-1)_(6997+1_6998-1)dup" "r.?" "p.?" "" "0000831127" "00007761" "90" "5198" "0" "5198" "0" "c.5198G>A" "r.(?)" "p.(Cys1733Tyr)" "" "0000831128" "00007761" "70" "5189" "0" "5189" "0" "c.5189A>T" "r.(?)" "p.(Asn1730Ile)" "" "0000831129" "00007761" "70" "5198" "0" "5198" "0" "c.5198G>T" "r.(?)" "p.(Cys1733Phe)" "" "0000831130" "00007761" "70" "5243" "0" "5243" "0" "c.5243G>T" "r.(?)" "p.(Cys1748Phe)" "" "0000831672" "00007761" "50" "2979" "0" "2979" "0" "c.2979C>T" "r.(=)" "p.(=)" "" "0000831681" "00007761" "90" "32" "0" "32" "0" "c.32T>G" "r.(?)" "p.(Leu11Arg)" "" "0000831682" "00007761" "70" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Gln147Ter)" "" "0000831683" "00007761" "70" "986" "0" "986" "0" "c.986dup" "r.(?)" "p.(Asp330ArgfsTer18)" "" "0000831684" "00007761" "90" "2177" "0" "2177" "0" "c.2177A>G" "r.(?)" "p.(Glu726Gly)" "" "0000831685" "00007761" "90" "2645" "0" "2645" "0" "c.2645C>T" "r.(?)" "p.(Ala882Val)" "" "0000831686" "00007761" "70" "2660" "0" "2660" "0" "c.2660G>A" "r.(?)" "p.(Cys887Tyr)" "" "0000831687" "00007761" "90" "2668" "0" "2668" "0" "c.2668T>C" "r.(?)" "p.(Cys890Arg)" "" "0000831688" "00007761" "90" "2953" "0" "2953" "0" "c.2953G>A" "r.(?)" "p.(Gly985Arg)" "" "0000831689" "00007761" "70" "3152" "0" "3152" "0" "c.3152T>G" "r.(?)" "p.(Phe1051Cys)" "" "0000831690" "00007761" "90" "3373" "0" "3373" "0" "c.3373C>T" "r.(?)" "p.(Arg1125Ter)" "" "0000831691" "00007761" "90" "4987" "0" "4987" "0" "c.4987T>C" "r.(?)" "p.(Cys1663Arg)" "" "0000831692" "00007761" "70" "5015" "0" "5015" "0" "c.5015del" "r.(?)" "p.(Cys1672LeufsTer10)" "" "0000831693" "00007761" "90" "5699" "0" "5699" "0" "c.5699G>C" "r.(?)" "p.(Cys1900Ser)" "" "0000831694" "00007761" "70" "6031" "0" "6031" "0" "c.6031T>C" "r.(?)" "p.(Cys2011Arg)" "" "0000831695" "00007761" "70" "6942" "0" "6942" "0" "c.6942C>G" "r.(?)" "p.(Tyr2314Ter)" "" "0000831696" "00007761" "90" "7708" "0" "7708" "0" "c.7708G>A" "r.(?)" "p.(Glu2570Lys)" "" "0000831697" "00007761" "70" "8188" "0" "8188" "0" "c.8188C>T" "r.(?)" "p.(Arg2730Trp)" "" "0000831698" "00007761" "70" "8578" "0" "8579" "0" "c.8578_8579dup" "r.(?)" "p.(Asp2860GlufsTer4)" "" "0000831738" "00007761" "50" "899" "0" "899" "0" "c.899A>G" "r.(?)" "p.(Glu300Gly)" "" "0000831739" "00007761" "50" "1577" "0" "1577" "0" "c.1577C>T" "r.(?)" "p.(Thr526Ile)" "" "0000831740" "00007761" "50" "1885" "0" "1885" "0" "c.1885G>A" "r.(?)" "p.(Val629Ile)" "" "0000831741" "00007761" "50" "2690" "0" "2690" "0" "c.2690G>A" "r.(?)" "p.(Gly897Asp)" "" "0000831742" "00007761" "50" "4562" "0" "4562" "0" "c.4562C>T" "r.(?)" "p.(Pro1521Leu)" "" "0000831743" "00007761" "50" "5363" "0" "5363" "0" "c.5363G>C" "r.(?)" "p.(Ser1788Thr)" "" "0000831744" "00007761" "50" "6055" "0" "6055" "0" "c.6055G>A" "r.(?)" "p.(Glu2019Lys)" "" "0000831745" "00007761" "50" "6380" "-3" "6380" "-3" "c.6380-3A>G" "r.spl" "p.?" "" "0000831746" "00007761" "50" "6449" "0" "6449" "0" "c.6449G>A" "r.(?)" "p.(Arg2150His)" "" "0000831747" "00007761" "50" "7064" "0" "7064" "0" "c.7064G>A" "r.(?)" "p.(Arg2355Lys)" "" "0000831748" "00007761" "50" "7241" "0" "7241" "0" "c.7241G>A" "r.(?)" "p.(Arg2414Gln)" "" "0000831749" "00007761" "50" "7379" "0" "7379" "0" "c.7379A>G" "r.7379a>g" "p.Lys2460Arg" "" "0000831750" "00007761" "50" "7400" "0" "7400" "0" "c.7400A>G" "r.(?)" "p.(Gln2467Arg)" "" "0000831751" "00007761" "50" "7423" "0" "7423" "0" "c.7423A>G" "r.(?)" "p.(Ile2475Val)" "" "0000831752" "00007761" "50" "7438" "0" "7438" "0" "c.7438G>A" "r.(?)" "p.(Gly2480Arg)" "" "0000831753" "00007761" "50" "8232" "0" "8232" "0" "c.8232G>C" "r.(?)" "p.(Gln2744His)" "" "0000831811" "00007761" "50" "5776" "0" "5776" "0" "c.5776A>G" "r.(?)" "p.(Asn1926Asp)" "" "0000837194" "00007761" "90" "2375" "0" "2375" "0" "c.2375G>T" "r.(?)" "p.(Cys792Phe)" "" "0000846489" "00007761" "90" "3371" "0" "3371" "0" "c.3371G>T" "r.(?)" "p.(Cys1124Phe)" "" "0000854054" "00007761" "50" "8423" "0" "8423" "0" "c.8423A>G" "r.(?)" "p.(Gln2808Arg)" "" "0000854055" "00007761" "30" "8113" "0" "8113" "0" "c.8113A>G" "r.(?)" "p.(Met2705Val)" "" "0000854056" "00007761" "70" "6724" "0" "6724" "0" "c.6724C>T" "r.(?)" "p.(Arg2242Cys)" "" "0000854057" "00007761" "50" "6659" "0" "6659" "0" "c.6659G>A" "r.(?)" "p.(Arg2220Gln)" "" "0000854058" "00007761" "50" "5842" "0" "5842" "0" "c.5842A>G" "r.(?)" "p.(Ile1948Val)" "" "0000854059" "00007761" "30" "5442" "0" "5442" "0" "c.5442C>T" "r.(?)" "p.(Asn1814=)" "" "0000854060" "00007761" "30" "5224" "10" "5224" "10" "c.5224+10A>G" "r.(=)" "p.(=)" "" "0000854061" "00007761" "70" "5144" "0" "5144" "0" "c.5144C>T" "r.(?)" "p.(Thr1715Ile)" "" "0000854062" "00007761" "90" "4786" "0" "4786" "0" "c.4786C>T" "r.(?)" "p.(Arg1596*)" "" "0000854063" "00007761" "90" "4786" "0" "4786" "0" "c.4786C>T" "r.(?)" "p.(Arg1596*)" "" "0000854064" "00007761" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954Cys)" "" "0000854065" "00007761" "90" "2612" "0" "2612" "0" "c.2612T>G" "r.(?)" "p.(Leu871*)" "" "0000854066" "00007761" "90" "2249" "0" "2249" "0" "c.2249G>A" "r.(?)" "p.(Cys750Tyr)" "" "0000854067" "00007761" "90" "2238" "0" "2238" "0" "c.2238T>A" "r.(?)" "p.(Tyr746*)" "" "0000854068" "00007761" "70" "1714" "1" "1714" "1" "c.1714+1G>A" "r.spl?" "p.?" "" "0000854069" "00007761" "30" "1277" "0" "1277" "0" "c.1277C>T" "r.(?)" "p.(Pro426Leu)" "" "0000854070" "00007761" "90" "618" "0" "621" "0" "c.618_621del" "r.(?)" "p.(Lys206Asnfs*123)" "" "0000863870" "00007761" "30" "8300" "0" "8300" "0" "c.8300A>G" "r.(?)" "p.(Asn2767Ser)" "" "0000863871" "00007761" "50" "8108" "0" "8108" "0" "c.8108G>T" "r.(?)" "p.(Gly2703Val)" "" "0000863872" "00007761" "50" "7769" "0" "7769" "0" "c.7769G>A" "r.(?)" "p.(Cys2590Tyr)" "" "0000863873" "00007761" "30" "7400" "0" "7400" "0" "c.7400A>G" "r.(?)" "p.(Gln2467Arg)" "" "0000863874" "00007761" "90" "7205" "-1" "7205" "-1" "c.7205-1G>C" "r.spl?" "p.?" "" "0000863875" "00007761" "30" "6932" "0" "6932" "0" "c.6932G>A" "r.(?)" "p.(Arg2311His)" "" "0000863876" "00007761" "30" "6888" "0" "6888" "0" "c.6888G>A" "r.(?)" "p.(Gln2296=)" "" "0000863877" "00007761" "30" "6832" "0" "6832" "0" "c.6832C>T" "r.(?)" "p.(Pro2278Ser)" "" "0000863878" "00007761" "30" "5545" "206" "5545" "206" "c.5545+206del" "r.(=)" "p.(=)" "" "0000863879" "00007761" "30" "5535" "0" "5535" "0" "c.5535A>G" "r.(?)" "p.(Gly1845=)" "" "0000863880" "00007761" "50" "5454" "0" "5454" "0" "c.5454C>G" "r.(?)" "p.(Cys1818Trp)" "" "0000863881" "00007761" "50" "5123" "0" "5123" "0" "c.5123G>A" "r.(?)" "p.(Gly1708Glu)" "" "0000863882" "00007761" "30" "3675" "0" "3675" "0" "c.3675G>A" "r.(?)" "p.(Pro1225=)" "" "0000863883" "00007761" "30" "3123" "0" "3123" "0" "c.3123C>T" "r.(?)" "p.(His1041=)" "" "0000863884" "00007761" "30" "2420" "-8" "2420" "-8" "c.2420-8T>C" "r.(=)" "p.(=)" "" "0000863885" "00007761" "10" "1029" "0" "1029" "0" "c.1029G>A" "r.(?)" "p.(Gly343=)" "" "0000863886" "00007761" "90" "479" "0" "479" "0" "c.479G>A" "r.(?)" "p.(Cys160Tyr)" "" "0000863887" "00007761" "90" "319" "0" "319" "0" "c.319del" "r.(?)" "p.(Ile107*)" "" "0000863888" "00007761" "30" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Cys102=)" "" "0000870613" "00007761" "90" "7606" "0" "7606" "0" "c.7606G>A" "r.(7571_7607del)" "p.0" "" "0000870706" "00007761" "90" "7606" "0" "7606" "0" "c.7606G>A" "r.7571_7607del" "p.0" "" "0000873591" "00007761" "70" "385" "0" "385" "0" "c.385T>C" "r.(?)" "p.(Cys129Arg)" "" "0000873604" "00007761" "70" "5839" "0" "5839" "0" "c.5839T>C" "r.(?)" "p.(Cys1947Arg)" "" "0000878769" "00007761" "50" "5848" "0" "5848" "0" "c.5848A>G" "r.(?)" "p.(Thr1950Ala)" "" "0000881165" "00007761" "90" "7039" "0" "7040" "0" "c.7039_7040del" "r.(?)" "p.(Met2347ValfsTer19)" "" "0000881166" "00007761" "70" "7454" "0" "7454" "0" "c.7454A>G" "r.(?)" "p.(Asp2485Gly)" "" "0000881167" "00007761" "70" "5311" "0" "5311" "0" "c.5311C>T" "r.(?)" "p.(Arg1771Trp)" "" "0000881168" "00007761" "90" "7712" "0" "7712" "0" "c.7712G>A" "r.(?)" "p.(Cys2571Tyr)" "" "0000881169" "00007761" "70" "5076" "0" "5078" "0" "c.5076_5078del" "r.(?)" "p.(Arg1692del)" "" "0000881170" "00007761" "90" "8326" "0" "8326" "0" "c.8326C>T" "r.(?)" "p.(Arg2776Ter)" "" "0000881276" "00007761" "70" "6314" "-3" "6314" "-3" "c.6314-3del" "r.spl" "p.?" "" "0000881277" "00007761" "70" "1669" "0" "1669" "0" "c.1669T>C" "r.(?)" "p.(Cys557Arg)" "" "0000881278" "00007761" "70" "6380" "0" "6380" "0" "c.6380A>G" "r.(?)" "p.(Asp2127Gly)" "" "0000881279" "00007761" "90" "2729" "-2" "2729" "-2" "c.2729-2A>G" "r.spl" "p.?" "" "0000881280" "00007761" "90" "2729" "-2" "2729" "-2" "c.2729-2A>G" "r.spl" "p.?" "" "0000881281" "00007761" "90" "4690" "0" "4691" "0" "c.4690_4691insTGTT" "r.(?)" "p.(Cys1564LeufsTer6)" "" "0000892102" "00007761" "50" "8558" "0" "8558" "0" "c.8558A>C" "r.(?)" "p.(Tyr2853Ser)" "" "0000892103" "00007761" "90" "8326" "0" "8326" "0" "c.8326C>T" "r.(?)" "p.(Arg2776*)" "" "0000892104" "00007761" "30" "8322" "0" "8322" "0" "c.8322G>A" "r.(?)" "p.(Lys2774=)" "" "0000892105" "00007761" "70" "8012" "0" "8012" "0" "c.8012T>C" "r.(?)" "p.(Leu2671Pro)" "" "0000892106" "00007761" "30" "7204" "7" "7204" "7" "c.7204+7C>G" "r.(=)" "p.(=)" "" "0000892107" "00007761" "30" "6987" "0" "6987" "0" "c.6987C>G" "r.(?)" "p.(Asp2329Glu)" "" "0000892108" "00007761" "10" "6987" "0" "6987" "0" "c.6987C>G" "r.(?)" "p.(Asp2329Glu)" "" "0000892109" "00007761" "50" "6601" "0" "6601" "0" "c.6601A>G" "r.(?)" "p.(Met2201Val)" "" "0000892110" "00007761" "50" "6493" "0" "6493" "0" "c.6493G>T" "r.(?)" "p.(Val2165Leu)" "" "0000892111" "00007761" "70" "6461" "0" "6461" "0" "c.6461C>G" "r.(?)" "p.(Pro2154Arg)" "" "0000892112" "00007761" "30" "6380" "-13" "6380" "-13" "c.6380-13del" "r.(=)" "p.(=)" "" "0000892113" "00007761" "90" "6322" "0" "6322" "0" "c.6322C>T" "r.(?)" "p.(Arg2108Cys)" "" "0000892114" "00007761" "30" "6314" "-15" "6314" "-15" "c.6314-15G>A" "r.(=)" "p.(=)" "" "0000892115" "00007761" "90" "5864" "0" "5864" "0" "c.5864A>C" "r.(?)" "p.(Gln1955Pro)" "" "0000892116" "00007761" "90" "5284" "0" "5284" "0" "c.5284G>A" "r.(?)" "p.(Gly1762Ser)" "" "0000892117" "00007761" "50" "4942" "6" "4942" "6" "c.4942+6T>C" "r.(=)" "p.(=)" "" "0000892118" "00007761" "50" "4895" "0" "4895" "0" "c.4895G>A" "r.(?)" "p.(Arg1632His)" "" "0000892119" "00007761" "90" "4689" "0" "4689" "0" "c.4689C>G" "r.(?)" "p.(Cys1563Trp)" "" "0000892120" "00007761" "50" "4270" "0" "4270" "0" "c.4270C>G" "r.(?)" "p.(Pro1424Ala)" "" "0000892121" "00007761" "30" "4214" "0" "4214" "0" "c.4214T>G" "r.(?)" "p.(Leu1405Arg)" "" "0000892122" "00007761" "90" "3725" "0" "3725" "0" "c.3725G>A" "r.(?)" "p.(Cys1242Tyr)" "" "0000892123" "00007761" "10" "3442" "0" "3442" "0" "c.3442C>G" "r.(?)" "p.(Pro1148Ala)" "" "0000892124" "00007761" "50" "3403" "0" "3403" "0" "c.3403A>G" "r.(?)" "p.(Ser1135Gly)" "" "0000892125" "00007761" "30" "3337" "19" "3337" "19" "c.3337+19G>A" "r.(=)" "p.(=)" "" "0000892126" "00007761" "30" "3123" "0" "3123" "0" "c.3123C>T" "r.(?)" "p.(His1041=)" "" "0000892127" "00007761" "50" "2927" "0" "2927" "0" "c.2927G>A" "r.(?)" "p.(Arg976His)" "" "0000892128" "00007761" "30" "2420" "-8" "2420" "-8" "c.2420-8T>C" "r.(=)" "p.(=)" "" "0000892129" "00007761" "50" "1880" "0" "1880" "0" "c.1880G>A" "r.(?)" "p.(Arg627His)" "" "0000892130" "00007761" "30" "1371" "0" "1371" "0" "c.1371C>G" "r.(?)" "p.(Arg457=)" "" "0000892131" "00007761" "50" "1270" "0" "1270" "0" "c.1270C>A" "r.(?)" "p.(Gln424Lys)" "" "0000892132" "00007761" "30" "1216" "0" "1216" "0" "c.1216C>G" "r.(?)" "p.(Leu406Val)" "" "0000892133" "00007761" "90" "910" "0" "910" "0" "c.910T>C" "r.(?)" "p.(Cys304Arg)" "" "0000892134" "00007761" "50" "863" "0" "863" "0" "c.863A>G" "r.(?)" "p.(Asp288Gly)" "" "0000892135" "00007761" "30" "863" "-26" "863" "-26" "c.863-26C>T" "r.(=)" "p.(=)" "" "0000892136" "00007761" "90" "332" "0" "332" "0" "c.332G>T" "r.(?)" "p.(Cys111Phe)" "" "0000892137" "00007761" "30" "257" "0" "257" "0" "c.257G>A" "r.(?)" "p.(Arg86Gln)" "" "0000892138" "00007761" "30" "-181" "-7" "-181" "-6" "c.-181-7_-181-6del" "r.(=)" "p.(=)" "" "0000902329" "00007761" "50" "1589" "-1217" "1589" "-1217" "c.1589-1217G>T" "r.(?)" "p.(?)" "" "0000908420" "00007761" "70" "2853" "0" "2854" "14" "c.2853_2854+14del" "r.(?)" "p.(?)" "" "0000914301" "00007761" "30" "8082" "0" "8082" "0" "c.8082A>C" "r.(?)" "p.(Arg2694=)" "" "0000914302" "00007761" "30" "6987" "0" "6987" "0" "c.6987C>G" "r.(?)" "p.(Asp2329Glu)" "" "0000914303" "00007761" "90" "6563" "0" "6563" "0" "c.6563T>G" "r.(?)" "p.(Phe2188Cys)" "" "0000914304" "00007761" "90" "6497" "-3" "6497" "-3" "c.6497-3C>G" "r.spl?" "p.?" "" "0000914305" "00007761" "70" "6428" "0" "6428" "0" "c.6428T>A" "r.(?)" "p.(Ile2143Asn)" "" "0000914306" "00007761" "90" "5788" "5" "5788" "5" "c.5788+5G>T" "r.spl?" "p.?" "" "0000914307" "00007761" "30" "5297" "-19" "5297" "-19" "c.5297-19A>G" "r.(=)" "p.(=)" "" "0000914308" "00007761" "10" "3675" "0" "3675" "0" "c.3675G>A" "r.(?)" "p.(Pro1225=)" "" "0000914309" "00007761" "90" "2723" "0" "2723" "0" "c.2723G>A" "r.(?)" "p.(Cys908Tyr)" "" "0000914310" "00007761" "90" "2167" "4" "2167" "4" "c.2167+4del" "r.spl?" "p.?" "" "0000914311" "00007761" "30" "1961" "-53" "1961" "-53" "c.1961-53dup" "r.(=)" "p.(=)" "" "0000914312" "00007761" "50" "1402" "0" "1402" "0" "c.1402A>G" "r.(?)" "p.(Thr468Ala)" "" "0000914313" "00007761" "30" "1212" "0" "1212" "0" "c.1212A>C" "r.(?)" "p.(Pro404=)" "" "0000914314" "00007761" "50" "568" "0" "568" "0" "c.568A>T" "r.(?)" "p.(Ile190Phe)" "" "0000914315" "00007761" "10" "156" "0" "156" "0" "c.156G>T" "r.(?)" "p.(Ala52=)" "" "0000920348" "00007761" "50" "3336" "0" "3336" "0" "c.3336G>A" "r.(?)" "p.(Met1112Ile)" "27" "0000921541" "00007761" "90" "1491" "0" "1491" "0" "c.1491C>G" "r.(?)" "p.(Asn497Lys)" "" "0000925970" "00007761" "30" "8232" "0" "8232" "0" "c.8232G>C" "r.(?)" "p.(Gln2744His)" "" "0000925971" "00007761" "90" "7533" "0" "7533" "0" "c.7533T>G" "r.(?)" "p.(Cys2511Trp)" "" "0000925972" "00007761" "50" "7412" "0" "7412" "0" "c.7412C>G" "r.(?)" "p.(Pro2471Arg)" "" "0000925973" "00007761" "30" "6871" "100" "6871" "100" "c.6871+100A>G" "r.(=)" "p.(=)" "" "0000925974" "00007761" "30" "6834" "0" "6834" "0" "c.6834C>T" "r.(?)" "p.(Pro2278=)" "" "0000925975" "00007761" "90" "6662" "0" "6662" "0" "c.6662G>A" "r.(?)" "p.(Cys2221Tyr)" "" "0000925976" "00007761" "30" "6393" "0" "6393" "0" "c.6393C>T" "r.(?)" "p.(Cys2131=)" "" "0000925977" "00007761" "70" "5999" "0" "5999" "0" "c.5999G>T" "r.(?)" "p.(Cys2000Phe)" "" "0000925978" "00007761" "30" "4905" "0" "4905" "0" "c.4905C>T" "r.(?)" "p.(Thr1635=)" "" "0000925979" "00007761" "90" "4675" "0" "4675" "0" "c.4675A>T" "r.(?)" "p.(Lys1559*)" "" "0000925980" "00007761" "30" "3838" "142" "3838" "142" "c.3838+142C>T" "r.(=)" "p.(=)" "" "0000925981" "00007761" "50" "3700" "0" "3700" "0" "c.3700A>G" "r.(?)" "p.(Arg1234Gly)" "" "0000925982" "00007761" "30" "3338" "-305" "3338" "-305" "c.3338-305G>T" "r.(=)" "p.(=)" "" "0000925983" "00007761" "30" "2729" "-198" "2729" "-198" "c.2729-198T>G" "r.(=)" "p.(=)" "" "0000925984" "00007761" "30" "2293" "48" "2293" "48" "c.2293+48C>T" "r.(=)" "p.(=)" "" "0000925985" "00007761" "30" "1837" "176" "1837" "176" "c.1837+176A>G" "r.(=)" "p.(=)" "" "0000925986" "00007761" "30" "1327" "266" "1327" "266" "c.1327+266G>A" "r.(=)" "p.(=)" "" "0000925987" "00007761" "30" "988" "194" "988" "194" "c.988+194G>A" "r.(=)" "p.(=)" "" "0000925988" "00007761" "30" "737" "-206" "737" "-206" "c.737-206A>T" "r.(=)" "p.(=)" "" "0000925989" "00007761" "30" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Cys102=)" "" "0000927509" "00007761" "70" "3677" "0" "3677" "0" "c.3677G>T" "r.(?)" "p.(Gly1226Val)" "30" "0000930389" "00007761" "50" "7906" "0" "7906" "0" "c.7906G>A" "r.(?)" "p.(Gly2636Ser)" "" "0000930390" "00007761" "30" "7230" "0" "7230" "0" "c.7230C>T" "r.(?)" "p.(His2410=)" "" "0000930391" "00007761" "30" "7181" "0" "7181" "0" "c.7181G>A" "r.(?)" "p.(Arg2394Gln)" "" "0000930392" "00007761" "90" "7133" "0" "7133" "0" "c.7133G>C" "r.(?)" "p.(Cys2378Ser)" "" "0000930393" "00007761" "90" "6617" "-2" "6617" "-2" "c.6617-2A>G" "r.spl?" "p.?" "" "0000930394" "00007761" "30" "6417" "0" "6417" "0" "c.6417T>C" "r.(?)" "p.(His2139=)" "" "0000930395" "00007761" "50" "6322" "0" "6322" "0" "c.6322C>T" "r.(?)" "p.(Arg2108Cys)" "" "0000930396" "00007761" "90" "6047" "0" "6047" "0" "c.6047dup" "r.(?)" "p.(Cys2017Valfs*15)" "" "0000930397" "00007761" "30" "5671" "304" "5671" "304" "c.5671+304G>A" "r.(=)" "p.(=)" "" "0000930398" "00007761" "30" "5097" "0" "5097" "0" "c.5097C>T" "r.(?)" "p.(=)" "" "0000930399" "00007761" "30" "3209" "-56" "3209" "-56" "c.3209-56G>A" "r.(=)" "p.(=)" "" "0000930400" "00007761" "90" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954Cys)" "" "0000930401" "00007761" "50" "2678" "0" "2678" "0" "c.2678A>G" "r.(?)" "p.(Asp893Gly)" "" "0000930402" "00007761" "50" "2208" "0" "2208" "0" "c.2208T>G" "r.(?)" "p.(Asn736Lys)" "" "0000930403" "00007761" "30" "2168" "-201" "2168" "-201" "c.2168-201C>G" "r.(=)" "p.(=)" "" "0000930404" "00007761" "30" "2113" "253" "2113" "253" "c.2113+253C>T" "r.(=)" "p.(=)" "" "0000950354" "00007761" "90" "7754" "0" "7754" "0" "c.7754T>C" "r.(?)" "p.(Ile2585Thr)" "" "0000950355" "00007761" "30" "7699" "116" "7699" "116" "c.7699+116dup" "r.(=)" "p.(=)" "" "0000950356" "00007761" "50" "7412" "0" "7412" "0" "c.7412C>G" "r.(?)" "p.(Pro2471Arg)" "" "0000950357" "00007761" "90" "6998" "-42" "6998" "-42" "c.6998-42A>G" "r.(=)" "p.(=)" "" "0000950358" "00007761" "30" "6998" "-217" "6998" "-217" "c.6998-217C>T" "r.(=)" "p.(=)" "" "0000950359" "00007761" "50" "6819" "0" "6819" "0" "c.6819G>A" "r.(?)" "p.(Met2273Ile)" "" "0000950360" "00007761" "30" "6617" "-99" "6617" "-99" "c.6617-99T>C" "r.(=)" "p.(=)" "" "0000950361" "00007761" "30" "6497" "-280" "6497" "-280" "c.6497-280G>A" "r.(=)" "p.(=)" "" "0000950362" "00007761" "30" "6314" "-104" "6314" "-104" "c.6314-104A>G" "r.(=)" "p.(=)" "" "0000950363" "00007761" "30" "6288" "0" "6288" "0" "c.6288C>T" "r.(?)" "p.(Cys2096=)" "" "0000950364" "00007761" "50" "6055" "0" "6055" "0" "c.6055G>A" "r.(?)" "p.(Glu2019Lys)" "" "0000950365" "00007761" "90" "5885" "0" "5885" "0" "c.5885A>G" "r.(?)" "p.(Tyr1962Cys)" "" "0000950366" "00007761" "90" "5371" "0" "5371" "0" "c.5371T>A" "r.(?)" "p.(Cys1791Ser)" "" "0000950367" "00007761" "30" "5297" "-110" "5297" "-109" "c.5297-110_5297-109insGCGCACACACACACAC" "r.(=)" "p.(=)" "" "0000950368" "00007761" "30" "5066" "-112" "5066" "-112" "c.5066-112C>T" "r.(=)" "p.(=)" "" "0000950369" "00007761" "10" "4337" "-48" "4337" "-48" "c.4337-48dup" "r.(=)" "p.(=)" "" "0000950370" "00007761" "30" "4210" "176" "4210" "176" "c.4210+176C>T" "r.(=)" "p.(=)" "" "0000950371" "00007761" "30" "4210" "11" "4210" "11" "c.4210+11G>A" "r.(=)" "p.(=)" "" "0000950372" "00007761" "30" "3590" "-213" "3590" "-213" "c.3590-213C>T" "r.(=)" "p.(=)" "" "0000950373" "00007761" "30" "3589" "189" "3589" "189" "c.3589+189A>G" "r.(=)" "p.(=)" "" "0000950374" "00007761" "30" "3337" "23" "3337" "23" "c.3337+23A>C" "r.(=)" "p.(=)" "" "0000950375" "00007761" "70" "2657" "0" "2657" "0" "c.2657C>T" "r.(?)" "p.(Pro886Leu)" "" "0000950376" "00007761" "30" "2433" "0" "2433" "0" "c.2433C>T" "r.(?)" "p.(=)" "" "0000950377" "00007761" "30" "1961" "-29" "1961" "-29" "c.1961-29T>C" "r.(=)" "p.(=)" "" "0000950378" "00007761" "90" "1801" "0" "1801" "0" "c.1801G>T" "r.(?)" "p.(Gly601*)" "" "0000950379" "00007761" "30" "1715" "-179" "1715" "-179" "c.1715-179G>A" "r.(=)" "p.(=)" "" "0000950380" "00007761" "30" "1588" "115" "1588" "115" "c.1588+115C>T" "r.(=)" "p.(=)" "" "0000950381" "00007761" "90" "1543" "0" "1543" "0" "c.1543T>C" "r.(?)" "p.(Cys515Arg)" "" "0000950382" "00007761" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Val432Met)" "" "0000950383" "00007761" "30" "1148" "-176" "1148" "-176" "c.1148-176G>A" "r.(=)" "p.(=)" "" "0000950384" "00007761" "50" "784" "0" "784" "0" "c.784T>G" "r.(?)" "p.(Cys262Gly)" "" "0000950385" "00007761" "50" "719" "0" "719" "0" "c.719G>A" "r.(?)" "p.(Arg240His)" "" "0000950386" "00007761" "30" "443" "-104" "443" "-104" "c.443-104G>A" "r.(=)" "p.(=)" "" "0000953785" "00007761" "30" "4250" "0" "4250" "0" "c.4250A>G" "r.(?)" "p.(Asn1417Ser)" "" "0000954357" "00007761" "70" "355" "0" "355" "0" "c.355T>C" "r.(?)" "p.(Cys119Arg)" "" "0000954358" "00007761" "70" "460" "0" "460" "0" "c.460T>C" "r.(?)" "p.(Cys154Arg)" "" "0000954359" "00007761" "70" "1543" "0" "1543" "0" "c.1543T>G" "r.(?)" "p.(Cys515Gly)" "" "0000954360" "00007761" "70" "1679" "0" "1679" "0" "c.1679G>A" "r.(?)" "p.(Gly560Asp)" "" "0000954361" "00007761" "70" "1884" "0" "1884" "0" "c.1884C>G" "r.(?)" "p.(Cys628Trp)" "" "0000954362" "00007761" "70" "2585" "0" "2585" "0" "c.2585G>A" "r.(?)" "p.(Cys862Tyr)" "" "0000954363" "00007761" "70" "2627" "0" "2627" "0" "c.2627G>C" "r.(?)" "p.(Cys876Ser)" "" "0000954364" "00007761" "70" "3379" "0" "3379" "0" "c.3379G>T" "r.(?)" "p.(Gly1127Cys)" "" "0000954365" "00007761" "70" "3650" "0" "3650" "0" "c.3650G>T" "r.(?)" "p.(Gly1217Val)" "" "0000954366" "00007761" "70" "3892" "0" "3892" "0" "c.3892A>C" "r.(?)" "p.(Asn1298His)" "" "0000954367" "00007761" "70" "4337" "0" "4337" "0" "c.4337A>G" "r.(?)" "p.(Asp1446Gly)" "" "0000954368" "00007761" "70" "4388" "0" "4388" "0" "c.4388A>C" "r.(?)" "p.(Asn1463Thr)" "" "0000954369" "00007761" "70" "4818" "0" "4826" "0" "c.4818_4826del" "r.(?)" "p.(Asp1606_Asp1608del)" "" "0000954370" "00007761" "70" "4982" "0" "4982" "0" "c.4982G>A" "r.(?)" "p.(Gly1661Glu)" "" "0000954371" "00007761" "70" "5305" "0" "5305" "0" "c.5305G>A" "r.(?)" "p.(Glu1769Lys)" "" "0000954372" "00007761" "70" "5422" "0" "5422" "0" "c.5422G>A" "r.(?)" "p.(Asp1808Asn)" "" "0000954373" "00007761" "70" "5431" "0" "5431" "0" "c.5431G>A" "r.(?)" "p.(Glu1811Lys)" "" "0000954374" "00007761" "70" "5431" "0" "5431" "0" "c.5431G>A" "r.(?)" "p.(Glu1811Lys)" "" "0000954375" "00007761" "70" "5636" "0" "5636" "0" "c.5636G>T" "r.(?)" "p.(Gly1879Val)" "" "0000954376" "00007761" "70" "5636" "0" "5636" "0" "c.5636G>T" "r.(?)" "p.(Gly1879Val)" "" "0000954377" "00007761" "70" "5636" "0" "5636" "0" "c.5636G>T" "r.(?)" "p.(Gly1879Val)" "" "0000954378" "00007761" "70" "5680" "0" "5680" "0" "c.5680G>A" "r.(?)" "p.(Glu1894Lys)" "" "0000954379" "00007761" "70" "6331" "0" "6331" "0" "c.6331T>C" "r.(?)" "p.(Cys2111Arg)" "" "0000954380" "00007761" "70" "6332" "0" "6332" "0" "c.6332G>T" "r.(?)" "p.(Cys2111Phe)" "" "0000954381" "00007761" "70" "6380" "0" "6380" "0" "c.6380A>T" "r.(?)" "p.(Asp2127Val)" "" "0000954382" "00007761" "70" "6389" "0" "6389" "0" "c.6389A>T" "r.(?)" "p.(Glu2130Val)" "" "0000954383" "00007761" "70" "6448" "0" "6448" "0" "c.6448C>T" "r.(?)" "p.(Arg2150Cys)" "" "0000954384" "00007761" "70" "6490" "0" "6490" "0" "c.6490T>C" "r.(?)" "p.(Cys2164Arg)" "" "0000954385" "00007761" "70" "6669" "0" "6669" "0" "c.6669C>A" "r.(?)" "p.(Asn2223Lys)" "" "0000954386" "00007761" "70" "6669" "0" "6669" "0" "c.6669C>A" "r.(?)" "p.(Asn2223Lys)" "" "0000954387" "00007761" "70" "6707" "0" "6707" "0" "c.6707A>G" "r.(?)" "p.(Tyr2236Cys)" "" "0000954388" "00007761" "70" "7015" "0" "7015" "0" "c.7015T>G" "r.(?)" "p.(Cys2339Gly)" "" "0000954389" "00007761" "70" "7015" "0" "7015" "0" "c.7015T>G" "r.(?)" "p.(Cys2339Gly)" "" "0000954390" "00007761" "70" "7279" "0" "7279" "0" "c.7279T>G" "r.(?)" "p.(Cys2427Gly)" "" "0000954391" "00007761" "70" "7637" "0" "7637" "0" "c.7637G>A" "r.(?)" "p.(Gly2546Glu)" "" "0000954392" "00007761" "70" "7650" "0" "7655" "0" "c.7650_7655del" "r.(?)" "p.(Glu2551_Cys2552del)" "" "0000954393" "00007761" "70" "7820" "0" "7820" "0" "c.7820A>T" "r.(?)" "p.(Asp2607Val)" "" "0000954394" "00007761" "70" "8012" "0" "8012" "0" "c.8012T>C" "r.(?)" "p.(Leu2671Pro)" "" "0000954395" "00007761" "70" "8020" "0" "8020" "0" "c.8020T>A" "r.(?)" "p.(Cys2674Ser)" "" "0000954396" "00007761" "70" "8152" "0" "8152" "0" "c.8152T>G" "r.(?)" "p.(Cys2718Gly)" "" "0000954397" "00007761" "70" "8378" "0" "8378" "0" "c.8378A>G" "r.(?)" "p.(Tyr2793Cys)" "" "0000954398" "00007761" "50" "170" "0" "170" "0" "c.170A>T" "r.(?)" "p.(Asn57Ile)" "" "0000954399" "00007761" "50" "1808" "0" "1808" "0" "c.1808A>C" "r.(?)" "p.(Gln603Pro)" "" "0000954400" "00007761" "50" "2504" "0" "2504" "0" "c.2504A>T" "r.(?)" "p.(Glu835Val)" "" "0000954401" "00007761" "50" "2542" "0" "2542" "0" "c.2542A>G" "r.(?)" "p.(Thr848Ala)" "" "0000954402" "00007761" "50" "2579" "0" "2579" "0" "c.2579G>A" "r.(?)" "p.(Gly860Glu)" "" "0000954403" "00007761" "50" "2651" "0" "2651" "0" "c.2651G>A" "r.(?)" "p.(Gly884Glu)" "" "0000954404" "00007761" "50" "3043" "0" "3043" "0" "c.3043G>A" "r.(?)" "p.(Ala1015Thr)" "" "0000954405" "00007761" "50" "3845" "0" "3845" "0" "c.3845A>G" "r.(?)" "p.(Asn1282Ser)" "" "0000954406" "00007761" "50" "4345" "0" "4345" "0" "c.4345G>A" "r.(?)" "p.(Glu1449Lys)" "" "0000954407" "00007761" "50" "4942" "0" "4942" "0" "c.4942G>A" "r.(?)" "p.(Asp1648Asn)" "" "0000954408" "00007761" "50" "5240" "0" "5251" "0" "c.5240_5251del" "r.(?)" "p.(Leu1747_Ser1750del)" "" "0000954409" "00007761" "50" "5369" "0" "5369" "0" "c.5369G>A" "r.(?)" "p.(Arg1790Gln)" "" "0000954410" "00007761" "50" "5596" "0" "5596" "0" "c.5596A>G" "r.(?)" "p.(Ile1866Val)" "" "0000954411" "00007761" "50" "5596" "0" "5596" "0" "c.5596A>G" "r.(?)" "p.(Ile1866Val)" "" "0000954412" "00007761" "50" "5596" "0" "5596" "0" "c.5596A>G" "r.(?)" "p.(Ile1866Val)" "" "0000954413" "00007761" "50" "5596" "0" "5596" "0" "c.5596A>G" "r.(?)" "p.(Ile1866Val)" "" "0000954414" "00007761" "50" "6704" "0" "6704" "0" "c.6704G>T" "r.(?)" "p.(Gly2235Val)" "" "0000954415" "00007761" "50" "6725" "0" "6725" "0" "c.6725G>A" "r.(?)" "p.(Arg2242His)" "" "0000954416" "00007761" "50" "7630" "0" "7630" "0" "c.7630A>C" "r.(?)" "p.(Thr2544Pro)" "" "0000954417" "00007761" "50" "8069" "0" "8069" "0" "c.8069T>G" "r.(?)" "p.(Met2690Arg)" "" "0000954418" "00007761" "70" "4460" "-8" "4460" "-8" "c.4460-8G>A" "r.(4459_4460insuuuuag)" "p.Thr1486_Asp1487insValLeu" "" "0000954419" "00007761" "70" "4583" "-10" "4583" "-10" "c.4583-10T>G" "r.4582_4583insgguaaauag" "p.Asp1528delinsGlyTer" "" "0000954420" "00007761" "50" "989" "-6" "989" "-6" "c.989-6C>A" "r.spl" "p.?" "" "0000954421" "00007761" "50" "1148" "-13" "1148" "-13" "c.1148-13T>A" "r.spl" "p.?" "" "0000954422" "00007761" "50" "5225" "-3" "5225" "-3" "c.5225-3C>G" "r.spl" "p.?" "" "0000954423" "00007761" "50" "6872" "-14" "6872" "-14" "c.6872-14A>G" "r.spl" "p.?" "" "0000954424" "00007761" "50" "7570" "11" "7570" "11" "c.7570+11G>A" "r.spl" "p.?" "" "0000954425" "00007761" "50" "7819" "5" "7819" "5" "c.7819+5G>A" "r.spl" "p.?" "" "0000954798" "00007761" "50" "7559" "0" "7559" "0" "c.7559C>T" "r.(?)" "p.(Thr2520Met)" "" "0000957419" "00007761" "70" "3244" "0" "3244" "0" "c.3244G>T" "r.(?)" "p.(Gly1082Cys)" "" "0000957420" "00007761" "70" "3244" "0" "3244" "0" "c.3244G>T" "r.(?)" "p.(Gly1082Cys)" "" "0000957478" "00007761" "50" "7559" "0" "7559" "0" "c.7559C>T" "r.(?)" "p.(Thr2520Met)" "61" "0000957516" "00007761" "50" "7559" "0" "7559" "0" "c.7559C>T" "r.(?)" "p.(Thr2520Met)" "61" "0000957517" "00007761" "50" "7559" "0" "7559" "0" "c.7559C>T" "r.(?)" "p.(Thr2520Met)" "61" "0000967795" "00007761" "30" "8310" "0" "8310" "0" "c.8310C>T" "r.(?)" "p.(His2770=)" "" "0000967796" "00007761" "30" "8176" "0" "8176" "0" "c.8176C>T" "r.(?)" "p.(Arg2726Trp)" "" "0000967797" "00007761" "30" "7819" "102" "7819" "102" "c.7819+102A>G" "r.(=)" "p.(=)" "" "0000967798" "00007761" "90" "7799" "0" "7799" "0" "c.7799A>G" "r.(?)" "p.(Tyr2600Cys)" "" "0000967799" "00007761" "30" "7699" "118" "7699" "118" "c.7699+118A>G" "r.(=)" "p.(=)" "" "0000967800" "00007761" "50" "7247" "0" "7247" "0" "c.7247G>C" "r.(?)" "p.(Gly2416Ala)" "" "0000967801" "00007761" "90" "7170" "0" "7170" "0" "c.7170del" "r.(?)" "p.(His2392Metfs*6)" "" "0000967802" "00007761" "30" "6997" "122" "6997" "122" "c.6997+122A>G" "r.(=)" "p.(=)" "" "0000967803" "00007761" "50" "6964" "0" "6964" "0" "c.6964T>C" "r.(?)" "p.(Phe2322Leu)" "" "0000967804" "00007761" "90" "6724" "0" "6724" "0" "c.6724C>T" "r.(?)" "p.(Arg2242Cys)" "" "0000967805" "00007761" "30" "6576" "0" "6576" "0" "c.6576C>T" "r.(?)" "p.(=)" "" "0000967806" "00007761" "50" "6511" "0" "6511" "0" "c.6511T>C" "r.(?)" "p.(Ser2171Pro)" "" "0000967807" "00007761" "30" "6497" "-240" "6497" "-240" "c.6497-240G>A" "r.(=)" "p.(=)" "" "0000967808" "00007761" "50" "6314" "0" "6314" "0" "c.6314A>T" "r.(?)" "p.(Glu2105Val)" "" "0000967809" "00007761" "30" "6164" "-128" "6164" "-128" "c.6164-128C>T" "r.(=)" "p.(=)" "" "0000967810" "00007761" "90" "6038" "-2" "6038" "-2" "c.6038-2A>G" "r.spl?" "p.?" "" "0000967812" "00007761" "70" "6007" "0" "6007" "0" "c.6007G>A" "r.(?)" "p.(Gly2003Arg)" "" "0000967813" "00007761" "30" "5918" "-202" "5918" "-202" "c.5918-202A>C" "r.(=)" "p.(=)" "" "0000967814" "00007761" "30" "5788" "4" "5788" "4" "c.5788+4C>A" "r.spl?" "p.?" "" "0000967815" "00007761" "30" "5672" "-361" "5672" "-361" "c.5672-361C>T" "r.(=)" "p.(=)" "" "0000967816" "00007761" "50" "5573" "0" "5573" "0" "c.5573A>G" "r.(?)" "p.(Asn1858Ser)" "" "0000967817" "00007761" "50" "5566" "0" "5566" "0" "c.5566A>G" "r.(?)" "p.(Ile1856Val)" "" "0000967818" "00007761" "30" "5545" "112" "5545" "112" "c.5545+112A>C" "r.(=)" "p.(=)" "" "0000967819" "00007761" "30" "5296" "87" "5296" "87" "c.5296+87G>A" "r.(=)" "p.(=)" "" "0000967820" "00007761" "90" "5245" "0" "5245" "0" "c.5245G>T" "r.(?)" "p.(Gly1749*)" "" "0000967821" "00007761" "30" "5224" "77" "5224" "77" "c.5224+77C>T" "r.(=)" "p.(=)" "" "0000967822" "00007761" "50" "5216" "0" "5216" "0" "c.5216C>T" "r.(?)" "p.(Pro1739Leu)" "" "0000967823" "00007761" "30" "4817" "-31" "4817" "-31" "c.4817-31T>G" "r.(=)" "p.(=)" "" "0000967824" "00007761" "30" "4747" "127" "4747" "127" "c.4747+127G>A" "r.(=)" "p.(=)" "" "0000967825" "00007761" "30" "4460" "-170" "4460" "-170" "c.4460-170C>T" "r.(=)" "p.(=)" "" "0000967826" "00007761" "50" "4270" "0" "4270" "0" "c.4270C>G" "r.(?)" "p.(Pro1424Ala)" "" "0000967827" "00007761" "50" "4075" "0" "4075" "0" "c.4075A>G" "r.(?)" "p.(Ile1359Val)" "" "0000967828" "00007761" "50" "3690" "0" "3690" "0" "c.3690G>A" "r.(?)" "p.(Met1230Ile)" "" "0000967829" "00007761" "30" "3555" "0" "3555" "0" "c.3555C>A" "r.(?)" "p.(=)" "" "0000967830" "00007761" "50" "3002" "0" "3002" "0" "c.3002C>T" "r.(?)" "p.(Thr1001Ile)" "" "0000967831" "00007761" "30" "2728" "96" "2728" "96" "c.2728+96G>C" "r.(=)" "p.(=)" "" "0000967832" "00007761" "50" "2678" "0" "2678" "0" "c.2678A>G" "r.(?)" "p.(Asp893Gly)" "" "0000967833" "00007761" "10" "2678" "-15" "2678" "-15" "c.2678-15C>T" "r.(=)" "p.(=)" "" "0000967834" "00007761" "50" "2678" "-241" "2678" "-241" "c.2678-241C>T" "r.(=)" "p.(=)" "" "0000967835" "00007761" "50" "2204" "0" "2204" "0" "c.2204C>G" "r.(?)" "p.(Pro735Arg)" "" "0000967836" "00007761" "30" "2114" "-163" "2114" "-163" "c.2114-163G>A" "r.(=)" "p.(=)" "" "0000967837" "00007761" "30" "1838" "-15" "1838" "-15" "c.1838-15C>T" "r.(=)" "p.(=)" "" "0000967838" "00007761" "30" "1837" "16" "1837" "16" "c.1837+16C>T" "r.(=)" "p.(=)" "" "0000967839" "00007761" "30" "1469" "-129" "1469" "-129" "c.1469-129A>G" "r.(=)" "p.(=)" "" "0000967840" "00007761" "30" "988" "164" "988" "164" "c.988+164G>A" "r.(=)" "p.(=)" "" "0000967841" "00007761" "30" "988" "91" "988" "91" "c.988+91A>C" "r.(=)" "p.(=)" "" "0000967842" "00007761" "10" "986" "0" "986" "0" "c.986T>C" "r.(?)" "p.(Ile329Thr)" "" "0000967843" "00007761" "50" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Ser95Leu)" "" "0000967844" "00007761" "30" "165" "-193" "165" "-193" "c.165-193G>A" "r.(=)" "p.(=)" "" "0000967845" "00007761" "30" "59" "0" "59" "0" "c.59A>G" "r.(?)" "p.(Tyr20Cys)" "" "0000972071" "00007761" "50" "5788" "5" "5788" "5" "c.5788+5G>A" "r.spl?" "p.?" "" "0000972072" "00007761" "70" "3794" "0" "3794" "0" "c.3794G>A" "r.(?)" "p.(Cys1265Tyr)" "" "0000972073" "00007761" "70" "2415" "0" "2415" "0" "c.2415T>G" "r.(?)" "p.(Cys805Trp)" "" "0000972080" "00007761" "50" "4096" "0" "4096" "0" "c.4096G>A" "r.(?)" "p.(Glu1366Lys)" "" "0000972081" "00007761" "50" "2848" "0" "2848" "0" "c.2848T>C" "r.(?)" "p.(Cys950Arg)" "" "0000972104" "00007761" "50" "1879" "0" "1879" "0" "c.1879C>T" "r.(?)" "p.(Arg627Cys)" "" "0000972108" "00007761" "50" "1709" "0" "1709" "0" "c.1709G>C" "r.(?)" "p.(Cys570Ser)" "" "0000972109" "00007761" "50" "2804" "0" "2804" "0" "c.2804G>A" "r.(?)" "p.(Cys935Tyr)" "" "0000972110" "00007761" "50" "479" "0" "479" "0" "c.479G>A" "r.(?)" "p.(Cys160Tyr)" "" "0000972111" "00007761" "50" "1884" "0" "1884" "0" "c.1884C>G" "r.(?)" "p.(Cys628Trp)" "" "0000972112" "00007761" "50" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62Cys)" "" "0000972113" "00007761" "50" "1948" "0" "1948" "0" "c.1948C>T" "r.(?)" "p.(Arg650Cys)" "" "0000972114" "00007761" "50" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Arg565Ter)" "" "0000972115" "00007761" "50" "4285" "0" "4285" "0" "c.4285T>C" "r.(?)" "p.(Cys1429Arg)" "" "0000972116" "00007761" "50" "1727" "0" "1727" "0" "c.1727G>A" "r.(?)" "p.(Cys576Tyr)" "" "0000972117" "00007761" "50" "4537" "0" "4537" "0" "c.4537T>C" "r.(?)" "p.(Cys1513Arg)" "" "0000972118" "00007761" "50" "1638" "0" "1638" "0" "c.1638C>G" "r.(?)" "p.(Cys546Trp)" "" "0000972119" "00007761" "50" "4982" "0" "4982" "0" "c.4982G>A" "r.(?)" "p.(Gly1661Glu)" "" "0000972120" "00007761" "50" "6697" "0" "6697" "0" "c.6697C>G" "r.(?)" "p.(Pro2233Ala)" "" "0000972121" "00007761" "50" "2724" "0" "2724" "0" "c.2724T>G" "r.(?)" "p.(Cys908Trp)" "" "0000972122" "00007761" "50" "6379" "1" "6379" "1" "c.6379+1del" "r.spl" "p.?" "" "0000972123" "00007761" "50" "1600" "0" "1600" "0" "c.1600T>C" "r.(?)" "p.(Cys534Arg)" "" "0000972124" "00007761" "50" "6496" "1" "6496" "1" "c.6496+1G>A" "r.spl" "p.?" "" "0000972125" "00007761" "50" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Cys150Tyr)" "" "0000972126" "00007761" "50" "6688" "0" "6688" "0" "c.6688T>C" "r.(?)" "p.(Cys2230Arg)" "" "0000972127" "00007761" "50" "2722" "0" "2722" "0" "c.2722T>C" "r.(?)" "p.(Cys908Arg)" "" "0000972128" "00007761" "50" "4601" "0" "4601" "0" "c.4601G>T" "r.(?)" "p.(Cys1534Phe)" "" "0000972129" "00007761" "50" "6998" "-2" "6998" "-2" "c.6998-2A>G" "r.spl" "p.?" "" "0000972130" "00007761" "50" "4930" "0" "4930" "0" "c.4930C>T" "r.(?)" "p.(Arg1644Ter)" "" "0000972131" "00007761" "50" "1904" "0" "1904" "0" "c.1904A>G" "r.(?)" "p.(Tyr635Cys)" "" "0000972132" "00007761" "50" "199" "0" "199" "0" "c.199T>C" "r.(?)" "p.(Cys67Arg)" "" "0000972133" "00007761" "50" "2728" "2" "2728" "2" "c.2728+2T>C" "r.spl?" "p.?" "" "0000972134" "00007761" "50" "3476" "0" "3476" "0" "c.3476G>T" "r.(?)" "p.(Cys1159Phe)" "" "0000972135" "00007761" "50" "2054" "0" "2054" "0" "c.2054G>A" "r.(?)" "p.(Cys685Tyr)" "" "0000972136" "00007761" "50" "6158" "0" "6158" "0" "c.6158G>T" "r.(?)" "p.(Cys2053Phe)" "" "0000972137" "00007761" "50" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "0000972138" "00007761" "50" "2168" "-1" "2168" "-1" "c.2168-1G>C" "r.spl" "p.?" "" "0000972139" "00007761" "50" "1670" "0" "1670" "0" "c.1670G>A" "r.(?)" "p.(Cys557Tyr)" "" "0000972140" "00007761" "50" "4143" "0" "4145" "0" "c.4143_4145del" "r.(?)" "p.(Lys1381del)" "" "0000972141" "00007761" "50" "6379" "0" "6379" "0" "c.6379G>T" "r.(?)" "p.(Asp2127Tyr)" "" "0000972142" "00007761" "50" "3032" "0" "3032" "0" "c.3032G>A" "r.(?)" "p.(Gly1011Glu)" "" "0000972143" "00007761" "50" "4120" "0" "4120" "0" "c.4120T>C" "r.(?)" "p.(Cys1374Arg)" "" "0000972144" "00007761" "50" "1745" "0" "1745" "0" "c.1745G>A" "r.(?)" "p.(Cys582Tyr)" "" "0000972145" "00007761" "50" "2369" "0" "2369" "0" "c.2369G>A" "r.(?)" "p.(Cys790Tyr)" "" "0000972146" "00007761" "50" "2741" "0" "2741" "0" "c.2741G>T" "r.(?)" "p.(Cys914Phe)" "" "0000972147" "00007761" "50" "5800" "0" "5800" "0" "c.5800T>C" "r.(?)" "p.(Cys1934Arg)" "" "0000972148" "00007761" "50" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62Cys)" "" "0000972149" "00007761" "50" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Gly214Asp)" "" "0000972150" "00007761" "50" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000972151" "00007761" "50" "290" "0" "290" "0" "c.290C>G" "r.(?)" "p.(Pro97Arg)" "" "0000972152" "00007761" "50" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954Cys)" "" "0000972153" "00007761" "50" "5788" "5" "5788" "5" "c.5788+5G>A" "r.spl?" "p.?" "" "0000972154" "00007761" "50" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Gly214Ser)" "" "0000972155" "00007761" "50" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "0000972156" "00007761" "50" "3545" "0" "3545" "0" "c.3545G>T" "r.(?)" "p.(Cys1182Phe)" "" "0000972157" "00007761" "50" "2872" "0" "2872" "0" "c.2872T>A" "r.(?)" "p.(Cys958Ser)" "" "0000972158" "00007761" "50" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62Cys)" "" "0000972159" "00007761" "50" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62Cys)" "" "0000972160" "00007761" "50" "4454" "0" "4454" "0" "c.4454G>A" "r.(?)" "p.(Cys1485Tyr)" "" "0000972161" "00007761" "50" "306" "0" "306" "0" "c.306C>G" "r.(?)" "p.(Cys102Trp)" "" "0000972162" "00007761" "50" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000972163" "00007761" "50" "5076" "0" "5078" "0" "c.5076_5078del" "r.(?)" "p.(Arg1692del)" "" "0000972164" "00007761" "50" "2659" "0" "2659" "0" "c.2659T>C" "r.(?)" "p.(Cys887Arg)" "" "0000972165" "00007761" "50" "355" "0" "355" "0" "c.355T>C" "r.(?)" "p.(Cys119Arg)" "" "0000972166" "00007761" "50" "3997" "0" "3997" "0" "c.3997T>C" "r.(?)" "p.(Cys1333Arg)" "" "0000972167" "00007761" "50" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Gly214Ser)" "" "0000972168" "00007761" "50" "5545" "1" "5545" "1" "c.5545+1G>C" "r.spl" "p.?" "" "0000972170" "00007761" "50" "2861" "0" "2861" "0" "c.2861G>C" "r.(?)" "p.(Arg954Pro)" "" "0000972171" "00007761" "50" "3217" "0" "3217" "0" "c.3217G>A" "r.(?)" "p.(Glu1073Lys)" "" "0000972172" "00007761" "50" "3244" "0" "3244" "0" "c.3244G>T" "r.(?)" "p.(Gly1082Cys)" "" "0000972173" "00007761" "50" "1891" "0" "1891" "0" "c.1891A>C" "r.(?)" "p.(Thr631Pro)" "" "0000972174" "00007761" "50" "1380" "0" "1380" "0" "c.1380T>G" "r.(?)" "p.(Cys460Trp)" "" "0000972175" "00007761" "50" "2810" "0" "2810" "0" "c.2810G>A" "r.(?)" "p.(Cys937Tyr)" "" "0000972176" "00007761" "50" "5788" "5" "5788" "5" "c.5788+5G>A" "r.spl?" "p.?" "" "0000972177" "00007761" "50" "407" "0" "407" "0" "c.407G>T" "r.(?)" "p.(Cys136Phe)" "" "0000972178" "00007761" "50" "6322" "0" "6322" "0" "c.6322C>T" "r.(?)" "p.(Arg2108Cys)" "" "0000972179" "00007761" "50" "4096" "0" "4096" "0" "c.4096G>A" "r.(?)" "p.(Glu1366Lys)" "" "0000972180" "00007761" "50" "4816" "1" "4816" "1" "c.4816+1G>A" "r.spl" "p.?" "" "0000972181" "00007761" "50" "3921" "0" "3921" "0" "c.3921T>G" "r.(?)" "p.(Cys1307Trp)" "" "0000972182" "00007761" "50" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62Cys)" "" "0000972183" "00007761" "50" "1774" "0" "1774" "0" "c.1774G>T" "r.(?)" "p.(Gly592Cys)" "" "0000972184" "00007761" "50" "1670" "0" "1670" "0" "c.1670G>A" "r.(?)" "p.(Cys557Tyr)" "" "0000972185" "00007761" "50" "7240" "0" "7240" "0" "c.7240C>T" "r.(?)" "p.(Arg2414Ter)" "" "0000972186" "00007761" "50" "305" "0" "305" "0" "c.305G>T" "r.(?)" "p.(Cys102Phe)" "" "0000972187" "00007761" "50" "2687" "0" "2687" "0" "c.2687G>A" "r.(?)" "p.(Cys896Tyr)" "" "0000972188" "00007761" "50" "5741" "0" "5741" "0" "c.5741G>A" "r.(?)" "p.(Cys1914Tyr)" "" "0000972189" "00007761" "50" "5225" "-1" "5225" "-1" "c.5225-1G>T" "r.spl" "p.?" "" "0000972190" "00007761" "50" "1915" "0" "1915" "0" "c.1915T>C" "r.(?)" "p.(Cys639Arg)" "" "0000972191" "00007761" "50" "6354" "0" "6354" "0" "c.6354C>T" "r.(?)" "p.(Ile2118=)" "" "0000972193" "00007761" "50" "3244" "0" "3244" "0" "c.3244G>T" "r.(?)" "p.(Gly1082Cys)" "" "0000972194" "00007761" "50" "1948" "0" "1948" "0" "c.1948C>T" "r.(?)" "p.(Arg650Cys)" "" "0000972195" "00007761" "50" "5885" "0" "5895" "0" "c.5885_5895del" "r.(?)" "p.(Tyr1962SerfsTer11)" "" "0000972196" "00007761" "50" "2447" "0" "2447" "0" "c.2447G>C" "r.(?)" "p.(Cys816Ser)" "" "0000972197" "00007761" "50" "434" "0" "434" "0" "c.434G>A" "r.(?)" "p.(Cys145Tyr)" "" "0000972198" "00007761" "50" "3725" "0" "3725" "0" "c.3725G>A" "r.(?)" "p.(Cys1242Tyr)" "" "0000972199" "00007761" "50" "1463" "0" "1463" "0" "c.1463G>A" "r.(?)" "p.(Cys488Tyr)" "" "0000972200" "00007761" "50" "5782" "0" "5782" "0" "c.5782T>C" "r.(?)" "p.(Cys1928Arg)" "" "0000972201" "00007761" "50" "2810" "0" "2810" "0" "c.2810G>A" "r.(?)" "p.(Cys937Tyr)" "" "0000972202" "00007761" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "0000972203" "00007761" "50" "5504" "0" "5504" "0" "c.5504G>A" "r.(?)" "p.(Cys1835Tyr)" "" "0000972204" "00007761" "50" "1715" "0" "1715" "0" "c.1715A>C" "r.(?)" "p.(Asp572Ala)" "" "0000972205" "00007761" "50" "3921" "0" "3926" "0" "c.3921_3926delinsCTCATTTTTTGCCGG" "r.(?)" "p.(Asp1308_Met1309delinsSerPhePheAlaGly)" "" "0000972206" "00007761" "50" "4538" "0" "4538" "0" "c.4538G>C" "r.(?)" "p.(Cys1513Ser)" "" "0000972207" "00007761" "50" "4222" "0" "4222" "0" "c.4222T>G" "r.(?)" "p.(Cys1408Gly)" "" "0000972208" "00007761" "50" "3037" "0" "3037" "0" "c.3037G>A" "r.(?)" "p.(Gly1013Arg)" "" "0000972209" "00007761" "50" "8569" "0" "8569" "0" "c.8569G>T" "r.(?)" "p.(Glu2857Ter)" "" "0000972210" "00007761" "50" "2432" "0" "2432" "0" "c.2432G>A" "r.(?)" "p.(Cys811Tyr)" "" "0000972211" "00007761" "50" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Tyr63Cys)" "" "0000972212" "00007761" "50" "6388" "0" "6388" "0" "c.6388G>A" "r.(?)" "p.(Glu2130Lys)" "" "0000972213" "00007761" "50" "2696" "0" "2696" "0" "c.2696G>A" "r.(?)" "p.(Gly899Glu)" "" "0000972214" "00007761" "50" "731" "0" "731" "0" "c.731G>T" "r.(?)" "p.(Cys244Phe)" "" "0000972215" "00007761" "50" "2164" "0" "2164" "0" "c.2164A>T" "r.(?)" "p.(Ser722Cys)" "" "0000972216" "00007761" "50" "5076" "0" "5078" "0" "c.5076_5078del" "r.(?)" "p.(Arg1692del)" "" "0000972217" "00007761" "50" "5788" "2" "5788" "2" "c.5788+2T>G" "r.spl" "p.?" "" "0000972218" "00007761" "50" "5918" "-2" "5918" "-2" "c.5918-2A>G" "r.spl" "p.?" "" "0000972219" "00007761" "50" "6832" "0" "6834" "0" "c.6832_6834del" "r.(?)" "p.(Pro2278del)" "" "0000972220" "00007761" "50" "4217" "0" "4217" "0" "c.4217A>G" "r.(?)" "p.(Asp1406Gly)" "" "0000972236" "00007761" "50" "266" "0" "266" "0" "c.266G>C" "r.(?)" "p.(Cys89Ser)" "" "0000972238" "00007761" "50" "1759" "0" "1759" "0" "c.1759T>C" "r.(?)" "p.(Cys587Arg)" "" "0000972239" "00007761" "50" "4285" "0" "4285" "0" "c.4285T>C" "r.(?)" "p.(Cys1429Arg)" "" "0000972240" "00007761" "50" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954Cys)" "" "0000972241" "00007761" "50" "6997" "5" "6997" "5" "c.6997+5G>A" "r.spl?" "p.?" "" "0000972242" "00007761" "50" "1511" "0" "1511" "0" "c.1511G>A" "r.(?)" "p.(Cys504Tyr)" "" "0000972243" "00007761" "50" "2623" "0" "2623" "0" "c.2623T>G" "r.(?)" "p.(Cys875Gly)" "" "0000972245" "00007761" "50" "4981" "0" "4981" "0" "c.4981G>C" "r.(?)" "p.(Gly1661Arg)" "" "0000972246" "00007761" "50" "1904" "0" "1904" "0" "c.1904A>G" "r.(?)" "p.(Tyr635Cys)" "" "0000972247" "00007761" "50" "1948" "0" "1948" "0" "c.1948C>T" "r.(?)" "p.(Arg650Cys)" "" "0000972248" "00007761" "50" "2180" "0" "2180" "0" "c.2180G>A" "r.(?)" "p.(Cys727Tyr)" "" "0000972249" "00007761" "50" "2369" "0" "2369" "0" "c.2369G>C" "r.(?)" "p.(Cys790Ser)" "" "0000972250" "00007761" "50" "2369" "0" "2369" "0" "c.2369G>A" "r.(?)" "p.(Cys790Tyr)" "" "0000972259" "00007761" "50" "6772" "0" "6772" "0" "c.6772T>C" "r.(?)" "p.(Cys2258Arg)" "" "0000972260" "00007761" "50" "2201" "0" "2201" "0" "c.2201G>T" "r.(?)" "p.(Cys734Phe)" "" "0000972261" "00007761" "50" "5066" "0" "5066" "0" "c.5066A>T" "r.(?)" "p.(Asp1689Val)" "" "0000972262" "00007761" "50" "4022" "0" "4022" "0" "c.4022A>G" "r.(?)" "p.(Asn1341Ser)" "" "0000972263" "00007761" "50" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Arg954Cys)" "" "0000972264" "00007761" "50" "5422" "1" "5422" "1" "c.5422+1G>A" "r.spl" "p.?" "" "0000972265" "00007761" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "0000972266" "00007761" "50" "2419" "1" "2419" "1" "c.2419+1G>A" "r.spl" "p.?" "" "0000972267" "00007761" "50" "1421" "0" "1421" "0" "c.1421G>T" "r.(?)" "p.(Cys474Phe)" "" "0000972268" "00007761" "50" "4283" "0" "4283" "0" "c.4283G>C" "r.(?)" "p.(Arg1428Pro)" "" "0000972269" "00007761" "50" "4260" "0" "4260" "0" "c.4260C>G" "r.(?)" "p.(Cys1420Trp)" "" "0000972270" "00007761" "50" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "0000972271" "00007761" "50" "2638" "0" "2638" "0" "c.2638G>A" "r.(?)" "p.(Gly880Ser)" "" "0000972274" "00007761" "50" "4205" "0" "4205" "0" "c.4205G>A" "r.(?)" "p.(Cys1402Tyr)" "" "0000972275" "00007761" "50" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Cys59Tyr)" "" "0000972276" "00007761" "50" "3463" "0" "3463" "0" "c.3463G>A" "r.(?)" "p.(Asp1155Asn)" "" "0000972277" "00007761" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "0000972278" "00007761" "50" "4538" "0" "4538" "0" "c.4538G>T" "r.(?)" "p.(Cys1513Phe)" "" "0000972279" "00007761" "50" "1721" "0" "1721" "0" "c.1721A>G" "r.(?)" "p.(Asp574Gly)" "" "0000972280" "00007761" "50" "2762" "0" "2762" "0" "c.2762G>A" "r.(?)" "p.(Cys921Tyr)" "" "0000972281" "00007761" "50" "2495" "0" "2495" "0" "c.2495G>C" "r.(?)" "p.(Cys832Ser)" "" "0000972282" "00007761" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "0000972283" "00007761" "50" "5417" "0" "5417" "0" "c.5417G>A" "r.(?)" "p.(Cys1806Tyr)" "" "0000972284" "00007761" "50" "4022" "0" "4022" "0" "c.4022A>G" "r.(?)" "p.(Asn1341Ser)" "" "0000972285" "00007761" "50" "5546" "-1" "5546" "-1" "c.5546-1G>A" "r.spl" "p.?" "" "0000972286" "00007761" "50" "5788" "1" "5788" "1" "c.5788+1G>A" "r.spl" "p.?" "" "0000972287" "00007761" "50" "538" "1" "538" "1" "c.538+1G>A" "r.spl" "p.?" "" "0000972288" "00007761" "50" "1775" "0" "1775" "0" "c.1775G>A" "r.(?)" "p.(Gly592Asp)" "" "0000972289" "00007761" "50" "2167" "4" "2167" "4" "c.2167+4A>G" "r.spl?" "p.?" "" "0000972290" "00007761" "50" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "0000972291" "00007761" "50" "6740" "0" "6740" "0" "c.6740A>G" "r.(?)" "p.(Asp2247Gly)" "" "0000972292" "00007761" "50" "5339" "0" "5339" "0" "c.5339G>A" "r.(?)" "p.(Gly1780Glu)" "" "0000972293" "00007761" "50" "5339" "0" "5339" "0" "c.5339G>C" "r.(?)" "p.(Gly1780Ala)" "" "0000972294" "00007761" "50" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "0000972295" "00007761" "50" "1630" "0" "1630" "0" "c.1630G>C" "r.(?)" "p.(Gly544Arg)" "" "0000972296" "00007761" "50" "3458" "0" "3458" "0" "c.3458G>A" "r.(?)" "p.(Cys1153Tyr)" "" "0000972297" "00007761" "50" "1633" "0" "1633" "0" "c.1633C>A" "r.(?)" "p.(Arg545Ser)" "" "0000972298" "00007761" "50" "2686" "0" "2686" "0" "c.2686T>C" "r.(?)" "p.(Cys896Arg)" "" "0000972299" "00007761" "50" "4816" "0" "4816" "0" "c.4816G>A" "r.(?)" "p.(Asp1606Asn)" "" "0000972300" "00007761" "50" "6085" "0" "6085" "0" "c.6085T>G" "r.(?)" "p.(Cys2029Gly)" "" "0000972301" "00007761" "50" "7403" "0" "7403" "0" "c.7403G>A" "r.(?)" "p.(Cys2468Tyr)" "" "0000972302" "00007761" "50" "2687" "0" "2687" "0" "c.2687G>A" "r.(?)" "p.(Cys896Tyr)" "" "0000972303" "00007761" "50" "2433" "0" "2433" "0" "c.2433C>A" "r.(?)" "p.(Cys811Ter)" "" "0000972304" "00007761" "50" "1879" "0" "1879" "0" "c.1879C>T" "r.(?)" "p.(Arg627Cys)" "" "0000972305" "00007761" "50" "2920" "0" "2920" "0" "c.2920C>T" "r.(?)" "p.(Arg974Cys)" "" "0000972306" "00007761" "50" "4460" "-8" "4460" "-8" "c.4460-8G>A" "r.spl?" "p.?" "" "0000972307" "00007761" "50" "4258" "0" "4258" "0" "c.4258T>C" "r.(?)" "p.(Cys1420Arg)" "" "0000972308" "00007761" "50" "4589" "0" "4589" "0" "c.4589G>C" "r.(?)" "p.(Arg1530Pro)" "" "0000972309" "00007761" "50" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000972310" "00007761" "50" "4096" "0" "4096" "0" "c.4096G>A" "r.(?)" "p.(Glu1366Lys)" "" "0000972311" "00007761" "50" "5539" "0" "5539" "0" "c.5539T>G" "r.(?)" "p.(Cys1847Gly)" "" "0000972312" "00007761" "50" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62Cys)" "" "0000972313" "00007761" "50" "4096" "0" "4096" "0" "c.4096G>A" "r.(?)" "p.(Glu1366Lys)" "" "0000972314" "00007761" "50" "2221" "0" "2221" "0" "c.2221A>C" "r.(?)" "p.(Asn741His)" "" "0000972315" "00007761" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "0000972316" "00007761" "50" "5076" "0" "5078" "0" "c.5076_5078del" "r.(?)" "p.(Arg1692del)" "" "0000972317" "00007761" "50" "3929" "0" "3929" "0" "c.3929G>A" "r.(?)" "p.(Gly1310Asp)" "" "0000972318" "00007761" "50" "3533" "0" "3533" "0" "c.3533A>G" "r.(?)" "p.(Tyr1178Cys)" "" "0000972319" "00007761" "50" "1879" "0" "1879" "0" "c.1879C>T" "r.(?)" "p.(Arg627Cys)" "" "0000972320" "00007761" "50" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Arg545Cys)" "" "0000972321" "00007761" "50" "1879" "0" "1879" "0" "c.1879C>T" "r.(?)" "p.(Arg627Cys)" "" "0000972322" "00007761" "50" "2201" "0" "2201" "0" "c.2201G>T" "r.(?)" "p.(Cys734Phe)" "" "0000972323" "00007761" "50" "2419" "1" "2419" "1" "c.2419+1G>T" "r.spl" "p.?" "" "0000972324" "00007761" "50" "2375" "0" "2375" "0" "c.2375G>T" "r.(?)" "p.(Cys792Phe)" "" "0000972325" "00007761" "50" "2087" "0" "2087" "0" "c.2087G>T" "r.(?)" "p.(Cys696Phe)" "" "0000972326" "00007761" "50" "5076" "0" "5078" "0" "c.5076_5078del" "r.(?)" "p.(Arg1692del)" "" "0000972327" "00007761" "50" "2920" "0" "2920" "0" "c.2920C>T" "r.(?)" "p.(Arg974Cys)" "" "0000972328" "00007761" "50" "3268" "0" "3268" "0" "c.3268C>T" "r.(?)" "p.(Pro1090Ser)" "" "0000972329" "00007761" "50" "4415" "0" "4415" "0" "c.4415G>A" "r.(?)" "p.(Cys1472Tyr)" "" "0000972330" "00007761" "50" "1879" "0" "1879" "0" "c.1879C>T" "r.(?)" "p.(Arg627Cys)" "" "0000972331" "00007761" "50" "5296" "5" "5296" "5" "c.5296+5G>C" "r.spl?" "p.?" "" "0000972332" "00007761" "50" "6038" "-2" "6038" "-2" "c.6038-2A>G" "r.spl" "p.?" "" "0000972333" "00007761" "50" "1709" "0" "1709" "0" "c.1709G>C" "r.(?)" "p.(Cys570Ser)" "" "0000972334" "00007761" "50" "386" "0" "386" "0" "c.386G>T" "r.(?)" "p.(Cys129Phe)" "" "0000972335" "00007761" "50" "5917" "6" "5917" "6" "c.5917+6T>C" "r.spl?" "p.?" "" "0000972336" "00007761" "50" "4981" "0" "4981" "0" "c.4981G>A" "r.(?)" "p.(Gly1661Arg)" "" "0000972337" "00007761" "50" "2305" "0" "2305" "0" "c.2305T>C" "r.(?)" "p.(Cys769Arg)" "" "0000972338" "00007761" "50" "2581" "0" "2581" "0" "c.2581C>T" "r.(?)" "p.(Arg861Ter)" "" "0000972339" "00007761" "50" "2168" "-2" "2168" "-2" "c.2168-2A>G" "r.spl" "p.?" "" "0000972340" "00007761" "50" "5788" "5" "5788" "5" "c.5788+5G>T" "r.spl?" "p.?" "" "0000972341" "00007761" "50" "2585" "0" "2585" "0" "c.2585G>A" "r.(?)" "p.(Cys862Tyr)" "" "0000972342" "00007761" "50" "4194" "0" "4194" "0" "c.4194T>G" "r.(?)" "p.(Asp1398Glu)" "" "0000972343" "00007761" "50" "5998" "0" "5998" "0" "c.5998T>C" "r.(?)" "p.(Cys2000Arg)" "" "0000981249" "00007761" "30" "8232" "0" "8232" "0" "c.8232G>A" "r.(?)" "p.(Gln2744=)" "" "0000981250" "00007761" "50" "7940" "0" "7940" "0" "c.7940A>C" "r.(?)" "p.(Gln2647Pro)" "" "0000981251" "00007761" "50" "7136" "0" "7136" "0" "c.7136C>T" "r.(?)" "p.(Pro2379Leu)" "" "0000981252" "00007761" "30" "7056" "0" "7056" "0" "c.7056C>T" "r.(?)" "p.(Ser2352=)" "" "0000981253" "00007761" "30" "6872" "-76" "6872" "-76" "c.6872-76G>A" "r.(=)" "p.(=)" "" "0000981254" "00007761" "30" "6654" "0" "6654" "0" "c.6654C>G" "r.(?)" "p.(=)" "" "0000981255" "00007761" "90" "6616" "0" "6616" "0" "c.6616G>A" "r.(?)" "p.(Asp2206Asn)" "" "0000981256" "00007761" "90" "6554" "0" "6554" "0" "c.6554T>C" "r.(?)" "p.(Ile2185Thr)" "" "0000981257" "00007761" "30" "6164" "-94" "6164" "-94" "c.6164-94C>T" "r.(=)" "p.(=)" "" "0000981258" "00007761" "30" "5296" "94" "5296" "94" "c.5296+94A>G" "r.(=)" "p.(=)" "" "0000981259" "00007761" "30" "5065" "21" "5065" "21" "c.5065+21G>A" "r.(=)" "p.(=)" "" "0000981260" "00007761" "30" "4582" "7" "4582" "7" "c.4582+7C>A" "r.(=)" "p.(=)" "" "0000981261" "00007761" "30" "4460" "-123" "4460" "-123" "c.4460-123G>A" "r.(=)" "p.(=)" "" "0000981262" "00007761" "30" "4459" "87" "4459" "87" "c.4459+87G>A" "r.(=)" "p.(=)" "" "0000981263" "00007761" "30" "4337" "-4" "4337" "-4" "c.4337-4dup" "r.spl?" "p.?" "" "0000981264" "00007761" "30" "4210" "202" "4210" "202" "c.4210+202C>T" "r.(=)" "p.(=)" "" "0000981265" "00007761" "30" "3969" "0" "3969" "0" "c.3969C>T" "r.(?)" "p.(=)" "" "0000981266" "00007761" "50" "3766" "0" "3766" "0" "c.3766A>G" "r.(?)" "p.(Asn1256Asp)" "" "0000981267" "00007761" "30" "3337" "221" "3337" "221" "c.3337+221T>C" "r.(=)" "p.(=)" "" "0000981268" "00007761" "50" "3321" "0" "3321" "0" "c.3321G>A" "r.(?)" "p.(Met1107Ile)" "" "0000981269" "00007761" "50" "2956" "0" "2956" "0" "c.2956G>A" "r.(?)" "p.(Ala986Thr)" "" "0000981270" "00007761" "30" "2855" "-146" "2855" "-146" "c.2855-146T>G" "r.(=)" "p.(=)" "" "0000981271" "00007761" "30" "2168" "-108" "2168" "-108" "c.2168-108T>G" "r.(=)" "p.(=)" "" "0000981272" "00007761" "30" "2113" "214" "2113" "214" "c.2113+214G>A" "r.(=)" "p.(=)" "" "0000981273" "00007761" "50" "2093" "0" "2093" "0" "c.2093C>T" "r.(?)" "p.(Pro698Leu)" "" "0000981274" "00007761" "50" "2030" "0" "2030" "0" "c.2030C>G" "r.(?)" "p.(Ala677Gly)" "" "0000981275" "00007761" "90" "1837" "5" "1837" "5" "c.1837+5G>A" "r.spl?" "p.?" "" "0000981276" "00007761" "30" "1602" "0" "1602" "0" "c.1602T>C" "r.(?)" "p.(Cys534=)" "" "0000981277" "00007761" "30" "863" "-18" "863" "-18" "c.863-18C>A" "r.(=)" "p.(=)" "" "0000981278" "00007761" "30" "737" "-182" "737" "-182" "c.737-182G>A" "r.(=)" "p.(=)" "" "0000981279" "00007761" "30" "736" "162" "736" "162" "c.736+162C>T" "r.(=)" "p.(=)" "" "0000981280" "00007761" "50" "598" "0" "598" "0" "c.598A>G" "r.(?)" "p.(Ser200Gly)" "" "0000981281" "00007761" "50" "572" "0" "572" "0" "c.572G>T" "r.(?)" "p.(Ser191Ile)" "" "0000981282" "00007761" "30" "165" "-26" "165" "-26" "c.165-26A>G" "r.(=)" "p.(=)" "" "0000981283" "00007761" "30" "165" "-81" "165" "-81" "c.165-81G>T" "r.(=)" "p.(=)" "" "0000985371" "00007761" "90" "3463" "0" "3463" "0" "c.3463G>A" "r.(?)" "p.(Asp1155Asn)" "" "0000987732" "00007761" "90" "5353" "0" "5354" "0" "c.5353_5354del" "r.(?)" "p.(Met1785Glyfs*7)" "44" "0000987786" "00007761" "70" "1552" "0" "1552" "0" "c.1552G>A" "r.(?)" "p.(Gly518Arg)" "" "0000989352" "00007761" "50" "1961" "-140" "1961" "-140" "c.1961-140A>G" "r.(?)" "p.(?)" "" "0000989460" "00007761" "30" "3026" "0" "3026" "0" "c.3026C>G" "r.(?)" "p.(Pro1009Arg)" "" "0001001449" "00007761" "10" "8502" "0" "8502" "0" "c.8502T>C" "r.(?)" "p.(Thr2834=)" "" "0001001450" "00007761" "50" "8322" "0" "8322" "0" "c.8322G>C" "r.(?)" "p.(Lys2774Asn)" "" "0001001451" "00007761" "50" "8299" "0" "8299" "0" "c.8299A>G" "r.(?)" "p.(Asn2767Asp)" "" "0001001452" "00007761" "30" "8232" "0" "8232" "0" "c.8232G>C" "r.(?)" "p.(Gln2744His)" "" "0001001453" "00007761" "50" "8149" "0" "8149" "0" "c.8149G>A" "r.(?)" "p.(Glu2717Lys)" "" "0001001454" "00007761" "50" "7423" "0" "7423" "0" "c.7423A>G" "r.(?)" "p.(Ile2475Val)" "" "0001001455" "00007761" "50" "7379" "0" "7379" "0" "c.7379A>G" "r.(?)" "p.(Lys2460Arg)" "" "0001001456" "00007761" "50" "7184" "0" "7184" "0" "c.7184G>T" "r.(?)" "p.(Gly2395Val)" "" "0001001457" "00007761" "30" "6956" "0" "6956" "0" "c.6956A>G" "r.(?)" "p.(Asn2319Ser)" "" "0001001458" "00007761" "90" "6823" "0" "6823" "0" "c.6823A>C" "r.(?)" "p.(Ile2275Leu)" "" "0001001459" "00007761" "90" "6751" "0" "6751" "0" "c.6751T>C" "r.(?)" "p.(Cys2251Arg)" "" "0001001460" "00007761" "70" "6698" "0" "6698" "0" "c.6698C>T" "r.(?)" "p.(Pro2233Leu)" "" "0001001461" "00007761" "50" "6323" "0" "6323" "0" "c.6323G>A" "r.(?)" "p.(Arg2108His)" "" "0001001462" "00007761" "90" "6170" "0" "6170" "0" "c.6170G>A" "r.(?)" "p.(Arg2057Gln)" "" "0001001463" "00007761" "10" "5672" "-3" "5672" "-3" "c.5672-3T>C" "r.spl?" "p.?" "" "0001001464" "00007761" "50" "5495" "0" "5495" "0" "c.5495G>A" "r.(?)" "p.(Arg1832His)" "" "0001001465" "00007761" "30" "5296" "126" "5296" "126" "c.5296+126C>A" "r.(=)" "p.(=)" "" "0001001466" "00007761" "50" "5210" "0" "5210" "0" "c.5210C>T" "r.(?)" "p.(Pro1737Leu)" "" "0001001467" "00007761" "30" "5190" "0" "5190" "0" "c.5190C>T" "r.(?)" "p.(=)" "" "0001001468" "00007761" "50" "4985" "0" "4985" "0" "c.4985C>A" "r.(?)" "p.(Thr1662Lys)" "" "0001001469" "00007761" "30" "4943" "-220" "4943" "-220" "c.4943-220G>A" "r.(=)" "p.(=)" "" "0001001470" "00007761" "30" "4747" "13" "4747" "13" "c.4747+13C>T" "r.(=)" "p.(=)" "" "0001001471" "00007761" "50" "4521" "0" "4521" "0" "c.4521C>T" "r.(?)" "p.(=)" "" "0001001472" "00007761" "30" "4337" "-9" "4337" "-9" "c.4337-9C>T" "r.(=)" "p.(=)" "" "0001001473" "00007761" "30" "4337" "-48" "4337" "-48" "c.4337-48dup" "r.(=)" "p.(=)" "" "0001001474" "00007761" "30" "4336" "231" "4336" "231" "c.4336+231G>A" "r.(=)" "p.(=)" "" "0001001475" "00007761" "50" "4282" "0" "4282" "0" "c.4282C>T" "r.(?)" "p.(Arg1428Cys)" "" "0001001476" "00007761" "30" "4254" "0" "4254" "0" "c.4254C>G" "r.(?)" "p.(=)" "" "0001001477" "00007761" "30" "4211" "-18" "4211" "-18" "c.4211-18G>A" "r.(=)" "p.(=)" "" "0001001478" "00007761" "50" "4130" "0" "4130" "0" "c.4130A>C" "r.(?)" "p.(His1377Pro)" "" "0001001479" "00007761" "70" "3995" "0" "3995" "0" "c.3995del" "r.(?)" "p.(Asn1332Thrfs*81)" "" "0001001480" "00007761" "50" "3690" "0" "3690" "0" "c.3690G>A" "r.(?)" "p.(Met1230Ile)" "" "0001001481" "00007761" "30" "3587" "0" "3587" "0" "c.3587T>A" "r.(?)" "p.(Val1196Asp)" "" "0001001482" "00007761" "30" "3509" "0" "3509" "0" "c.3509G>A" "r.(?)" "p.(Arg1170His)" "" "0001001483" "00007761" "30" "3463" "24" "3463" "24" "c.3463+24A>G" "r.(=)" "p.(=)" "" "0001001484" "00007761" "50" "3410" "0" "3410" "0" "c.3410G>A" "r.(?)" "p.(Arg1137His)" "" "0001001485" "00007761" "30" "3059" "0" "3059" "0" "c.3059C>G" "r.(?)" "p.(Thr1020Arg)" "" "0001001486" "00007761" "30" "2677" "172" "2677" "172" "c.2677+172T>C" "r.(=)" "p.(=)" "" "0001001487" "00007761" "50" "2657" "0" "2657" "0" "c.2657C>T" "r.(?)" "p.(Pro886Leu)" "" "0001001488" "00007761" "30" "2228" "0" "2228" "0" "c.2228G>A" "r.(?)" "p.(Arg743His)" "" "0001001489" "00007761" "30" "2208" "0" "2208" "0" "c.2208T>G" "r.(?)" "p.(Asn736Lys)" "" "0001001490" "00007761" "30" "2204" "0" "2204" "0" "c.2204C>G" "r.(?)" "p.(Pro735Arg)" "" "0001001491" "00007761" "50" "2056" "0" "2056" "0" "c.2056G>T" "r.(?)" "p.(Ala686Ser)" "" "0001001492" "00007761" "50" "1676" "0" "1676" "0" "c.1676C>T" "r.(?)" "p.(Ala559Val)" "" "0001001493" "00007761" "50" "1586" "0" "1586" "0" "c.1586G>A" "r.(?)" "p.(Arg529Gln)" "" "0001001494" "00007761" "30" "1289" "0" "1289" "0" "c.1289C>T" "r.(?)" "p.(Pro430Leu)" "" "0001001495" "00007761" "90" "1227" "0" "1227" "0" "c.1227dup" "r.(?)" "p.(Pro410Serfs*42)" "" "0001001496" "00007761" "50" "1201" "0" "1201" "0" "c.1201T>A" "r.(?)" "p.(Tyr401Asn)" "" "0001001497" "00007761" "30" "1148" "-242" "1148" "-242" "c.1148-242T>C" "r.(=)" "p.(=)" "" "0001001498" "00007761" "50" "987" "0" "987" "0" "c.987A>G" "r.(?)" "p.(Ile329Met)" "" "0001001499" "00007761" "50" "505" "0" "505" "0" "c.505A>G" "r.(?)" "p.(Thr169Ala)" "" "0001001500" "00007761" "50" "347" "-4" "347" "-4" "c.347-4C>A" "r.spl?" "p.?" "" "0001001501" "00007761" "30" "319" "0" "319" "0" "c.319A>T" "r.(?)" "p.(Ile107Leu)" "" "0001001502" "00007761" "90" "319" "0" "319" "0" "c.319del" "r.(?)" "p.(Ile107*)" "" "0001001503" "00007761" "50" "185" "0" "185" "0" "c.185G>A" "r.(?)" "p.(Arg62His)" "" "0001001504" "00007761" "30" "164" "199" "164" "199" "c.164+199G>A" "r.(=)" "p.(=)" "" "0001001505" "00007761" "30" "164" "179" "164" "179" "c.164+179C>T" "r.(=)" "p.(=)" "" "0001007078" "00007761" "90" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Ter)" "" "0001007454" "00007761" "70" "2003" "0" "2003" "0" "c.2003G>A" "r.(?)" "p.(Gly668Asp)" "" "0001015198" "00007761" "50" "8055" "0" "8055" "0" "c.8055C>G" "r.(?)" "p.(His2685Gln)" "" "0001015199" "00007761" "50" "7858" "0" "7858" "0" "c.7858G>A" "r.(?)" "p.(Ala2620Thr)" "" "0001015200" "00007761" "50" "7840" "0" "7840" "0" "c.7840G>A" "r.(?)" "p.(Ala2614Thr)" "" "0001015201" "00007761" "90" "7664" "0" "7664" "0" "c.7664G>T" "r.(?)" "p.(Gly2555Val)" "" "0001015202" "00007761" "50" "7455" "0" "7455" "0" "c.7455T>G" "r.(?)" "p.(Asp2485Glu)" "" "0001015203" "00007761" "90" "5512" "0" "5512" "0" "c.5512G>A" "r.(?)" "p.(Gly1838Ser)" "" "0001015204" "00007761" "50" "5459" "0" "5459" "0" "c.5459G>A" "r.(?)" "p.(Arg1820His)" "" "0001015205" "00007761" "50" "4125" "0" "4125" "0" "c.4125C>G" "r.(?)" "p.(Ser1375Arg)" "" "0001015206" "00007761" "50" "3690" "0" "3690" "0" "c.3690G>A" "r.(?)" "p.(Met1230Ile)" "" "0001015207" "00007761" "90" "3472" "0" "3472" "0" "c.3472G>A" "r.(?)" "p.(Glu1158Lys)" "" "0001015208" "00007761" "30" "3171" "0" "3171" "0" "c.3171C>T" "r.(?)" "p.(=)" "" "0001015209" "00007761" "50" "2636" "0" "2636" "0" "c.2636T>A" "r.(?)" "p.(Leu879His)" "" "0001015210" "00007761" "90" "1948" "0" "1948" "0" "c.1948C>T" "r.(?)" "p.(Arg650Cys)" "" "0001015211" "00007761" "50" "173" "0" "173" "0" "c.173T>A" "r.(?)" "p.(Val58Asp)" "" "0001016792" "00007761" "70" "2215" "0" "2215" "0" "c.2215T>C" "r.(?)" "p.(Cys739Arg)" "" "0001017881" "00007761" "70" "4951" "0" "4951" "0" "c.4951G>T" "r.(?)" "p.(Glu1651Ter)" "" "0001019174" "00007761" "90" "5911" "0" "5911" "0" "c.5911T>G" "r.(5911T>G)" "p.(Cys1971Gly)" "47" "0001021359" "00007761" "50" "1001" "0" "1001" "0" "c.1001G>A" "r.(?)" "p.(Gly334Glu)" "" "0001021704" "00007761" "10" "3422" "0" "3422" "0" "c.3422C>T" "r.(3422C>T)" "p.(Pro1141Leu)" "" "0001021705" "00007761" "30" "3689" "0" "3689" "0" "c.3689T>C" "r.(3689T>C)" "p.(Met1230Thr)" "" "0001021706" "00007761" "90" "4255" "0" "4255" "0" "c.4255C>T" "r.(4255C>T)" "p.(Gln1419Ter)" "" "0001021707" "00007761" "70" "7003" "0" "7003" "0" "c.7003C>T" "r.(7003C>T)" "p.(Arg2335Trp)" "" "0001021708" "00007761" "50" "5443" "0" "5443" "0" "c.5443G>A" "r.(5443G>A)" "p.(Gly1815Ser)" "" "0001021709" "00007761" "50" "59" "0" "59" "0" "c.59A>G" "r.(59A>G)" "p.(Tyr20Cys)" "" "0001021710" "00007761" "90" "7204" "1" "7204" "1" "c.7204+1G>T" "r.spl" "p.?" "" "0001021711" "00007761" "90" "4459" "0" "4459" "0" "c.4459G>A" "r.(4459G>A)" "p.(Asp1487Asn)" "" "0001021712" "00007761" "70" "2364" "0" "2364" "0" "c.2364dup" "r.(2364dup)" "p.(Val789CysfsTer13)" "" "0001021713" "00007761" "30" "3058" "0" "3058" "0" "c.3058A>G" "r.(3058A>G)" "p.(Thr1020Ala)" "" "0001021714" "00007761" "90" "4149" "0" "4154" "0" "c.4149_4154del" "r.(4149_4154del)" "p.(Met1384_Gly1385del)" "" "0001021715" "00007761" "50" "4214" "0" "4214" "0" "c.4214T>G" "r.(4214T>G)" "p.(Leu1405Arg)" "" "0001021716" "00007761" "90" "7383" "0" "7383" "0" "c.7383del" "r.(7383del)" "p.(Asn2461LysfsTer221)" "" "0001021717" "00007761" "50" "7643" "0" "7643" "0" "c.7643T>A" "r.(7643T>A)" "p.(Phe2548Tyr)" "" "0001021718" "00007761" "70" "8176" "0" "8176" "0" "c.8176C>T" "r.(8176C>T)" "p.(Arg2726Trp)" "" "0001021719" "00007761" "10" "8363" "0" "8363" "0" "c.8363C>T" "r.(8363C>T)" "p.(Thr2788Met)" "" "0001021720" "00007761" "30" "985" "0" "985" "0" "c.985A>G" "r.(985A>G)" "p.(Ile329Val)" "" "0001021721" "00007761" "70" "2034" "0" "2052" "0" "c.2034_2052del" "r.(2034_2052del)" "p.(Thr679AlafsTer33)" "" "0001021722" "00007761" "10" "3509" "0" "3509" "0" "c.3509G>A" "r.(3509G>A)" "p.(Arg1170His)" "" "0001021723" "00007761" "70" "6505" "0" "6505" "0" "c.6505G>T" "r.(6505G>T)" "p.(Glu2169Ter)" "" "0001021724" "00007761" "90" "7540" "0" "7540" "0" "c.7540G>T" "r.(7540G>T)" "p.(Gly2514Ter)" "" "0001021725" "00007761" "70" "7577" "0" "7577" "0" "c.7577A>G" "r.(7577A>G)" "p.(Asn2526Ser)" "" "0001021726" "00007761" "70" "2669" "0" "2669" "0" "c.2669G>A" "r.(2669G>A)" "p.(Cys890Tyr)" "" "0001021727" "00007761" "50" "4466" "0" "4466" "0" "c.4466A>G" "r.(4466A>G)" "p.(Asn1489Ser)" "" "0001021728" "00007761" "70" "4583" "-5" "4583" "-5" "c.4583-5A>G" "r.spl" "p.?" "" "0001021729" "00007761" "10" "4640" "0" "4640" "0" "c.4640C>T" "r.(4640C>T)" "p.(Thr1547Ile)" "" "0001021730" "00007761" "70" "5734" "0" "5736" "0" "c.5734_5736del" "r.(5734_5736del)" "p.(Phe1912del)" "" "0001021731" "00007761" "70" "629" "0" "629" "0" "c.629G>A" "r.(629G>A)" "p.(Cys210Tyr)" "" "0001021732" "00007761" "90" "7167" "0" "7168" "0" "c.7167_7168del" "r.(7167_7168del)" "p.(Cys2390SerfsTer15)" "" "0001021733" "00007761" "70" "799" "0" "805" "0" "c.799_805del" "r.(799_805del)" "p.(Gly267LeufsTer61)" "" "0001021734" "00007761" "50" "1961" "-3" "1961" "-3" "c.1961-3T>G" "r.spl?" "p.?" "" "0001021735" "00007761" "90" "3603" "0" "3603" "0" "c.3603C>A" "r.(3603C>A)" "p.(Cys1201Ter)" "" "0001021736" "00007761" "70" "4700" "0" "4700" "0" "c.4700del" "r.(4700del)" "p.(Gly1567ValfsTer14)" "" "0001021737" "00007761" "70" "7692" "0" "7693" "0" "c.7692_7693delinsGGTGATCTGGAAGGTGAA" "r.(7692_7693delinsGGTGATCTGGAAGGTGAA)" "p.(Ser2564ArgfsTer8)" "" "0001021738" "00007761" "90" "1" "0" "1" "0" "c.1A>C" "r.(1A>C)" "p.(Met1?)" "" "0001021739" "00007761" "10" "2956" "0" "2956" "0" "c.2956G>A" "r.(2956G>A)" "p.(Ala986Thr)" "" "0001021740" "00007761" "10" "986" "0" "986" "0" "c.986T>C" "r.(986T>C)" "p.(Ile329Thr)" "" "0001021741" "00007761" "90" "8051" "0" "8051" "0" "c.8051delinsTT" "r.(8051delinsTT)" "p.(Gly2684ValfsTer21)" "" "0001021742" "00007761" "90" "8080" "0" "8080" "0" "c.8080C>T" "r.(8080C>T)" "p.(Arg2694Ter)" "" "0001021743" "00007761" "70" "3632" "0" "3634" "0" "c.3632_3634del" "r.(3632_3634del)" "p.(Phe1211del)" "" "0001021744" "00007761" "90" "4414" "0" "4414" "0" "c.4414T>C" "r.(4414T>C)" "p.(Cys1472Arg)" "" "0001021745" "00007761" "90" "6453" "0" "6453" "0" "c.6453C>T" "r.spl" "p.?" "" "0001021746" "00007761" "90" "7540" "0" "7540" "0" "c.7540G>A" "r.(7540G>A)" "p.(Gly2514Arg)" "" "0001021747" "00007761" "10" "79" "0" "79" "0" "c.79G>A" "r.(79G>A)" "p.(Ala27Thr)" "" "0001021748" "00007761" "70" "3623" "0" "3623" "0" "c.3623del" "r.(3623del)" "p.(Cys1208LeufsTer22)" "" "0001021749" "00007761" "50" "2678" "-15" "2678" "-15" "c.2678-15C>A" "r.spl?" "p.?" "" "0001021750" "00007761" "50" "3295" "0" "3295" "0" "c.3295G>A" "r.(3295G>A)" "p.(Glu1099Lys)" "" "0001021751" "00007761" "30" "4270" "0" "4270" "0" "c.4270C>G" "r.(4270C>G)" "p.(Pro1424Ala)" "" "0001021752" "00007761" "50" "4935" "0" "4935" "0" "c.4935G>A" "r.spl?" "p.?" "" "0001021753" "00007761" "30" "6073" "0" "6073" "0" "c.6073G>T" "r.(6073G>T)" "p.(Ala2025Ser)" "" "0001021754" "00007761" "90" "7039" "0" "7040" "0" "c.7039_7040del" "r.(7039_7040del)" "p.(Met2347ValfsTer19)" "" "0001021755" "00007761" "70" "7259" "0" "7259" "0" "c.7259A>G" "r.(7259A>G)" "p.(Asn2420Ser)" "" "0001021756" "00007761" "90" "7361" "0" "7364" "0" "c.7361_7364delinsA" "r.(7361_7364delinsA)" "p.(Pro2454_Cys2455delinsHis)" "" "0001021757" "00007761" "50" "7585" "0" "7585" "0" "c.7585A>C" "r.(7585A>C)" "p.(Thr2529Pro)" "" "0001021758" "00007761" "30" "8149" "0" "8149" "0" "c.8149G>A" "r.(8149G>A)" "p.(Glu2717Lys)" "" "0001021759" "00007761" "90" "8525" "0" "8529" "0" "c.8525_8529del" "r.(8525_8529del)" "p.(Leu2842ProfsTer7)" "" "0001021760" "00007761" "90" "8326" "0" "8326" "0" "c.8326C>T" "r.(8326C>T)" "p.(Arg2776Ter)" "" "0001021761" "00007761" "90" "5788" "5" "5788" "5" "c.5788+5G>A" "r.spl" "p.?" "" "0001021762" "00007761" "50" "7412" "0" "7412" "0" "c.7412C>G" "r.(7412C>G)" "p.(Pro2471Arg)" "" "0001021763" "00007761" "90" "5743" "0" "5743" "0" "c.5743C>T" "r.(5743C>T)" "p.(Arg1915Cys)" "" "0001022053" "00007761" "30" "6288" "0" "6288" "0" "c.6288C>T" "r.6288C>T" "p.Cys2096=" "51" "0001022195" "00007761" "70" "5296" "5" "5296" "5" "c.5296+5G>A" "r.[5225_5296del,=]" "p.[Glu1743_Asp1766del,=]" "43i" "0001026441" "00007761" "30" "8052" "-20" "8052" "-20" "c.8052-20A>G" "r.(=)" "p.(=)" "" "0001026442" "00007761" "90" "7726" "0" "7726" "0" "c.7726C>T" "r.(?)" "p.(Arg2576Cys)" "" "0001026443" "00007761" "30" "7570" "123" "7570" "123" "c.7570+123G>T" "r.(=)" "p.(=)" "" "0001026444" "00007761" "90" "7323" "0" "7323" "0" "c.7323del" "r.(?)" "p.(Cys2442ValfsTer2)" "" "0001026445" "00007761" "50" "7004" "0" "7004" "0" "c.7004G>T" "r.(?)" "p.(Arg2335Leu)" "" "0001026446" "00007761" "90" "6790" "0" "6790" "0" "c.6790del" "r.(?)" "p.(Glu2264Asnfs*27)" "" "0001026447" "00007761" "30" "6681" "0" "6681" "0" "c.6681A>C" "r.(?)" "p.(Ser2227=)" "" "0001026448" "00007761" "30" "6038" "-8" "6038" "-8" "c.6038-8T>A" "r.(=)" "p.(=)" "" "0001026449" "00007761" "90" "5065" "1" "5065" "1" "c.5065+1del" "r.spl?" "p.?" "" "0001026450" "00007761" "30" "4650" "0" "4650" "0" "c.4650C>T" "r.(?)" "p.(=)" "" "0001026451" "00007761" "30" "3509" "0" "3509" "0" "c.3509G>A" "r.(?)" "p.(Arg1170His)" "" "0001026452" "00007761" "90" "3463" "0" "3463" "0" "c.3463G>A" "r.(?)" "p.(Asp1155Asn)" "" "0001026453" "00007761" "50" "3228" "0" "3228" "0" "c.3228A>G" "r.(?)" "p.(Ile1076Met)" "" "0001026454" "00007761" "30" "2934" "0" "2934" "0" "c.2934C>G" "r.(?)" "p.(Asp978Glu)" "" "0001026455" "00007761" "30" "2729" "-3" "2729" "-3" "c.2729-3del" "r.spl?" "p.?" "" "0001026456" "00007761" "90" "2131" "0" "2131" "0" "c.2131T>G" "r.(?)" "p.(Cys711Gly)" "" "0001026457" "00007761" "30" "1960" "14" "1960" "14" "c.1960+14A>G" "r.(=)" "p.(=)" "" "0001026458" "00007761" "90" "1496" "0" "1496" "0" "c.1496G>C" "r.(?)" "p.(Cys499Ser)" "" "0001026459" "00007761" "50" "814" "0" "814" "0" "c.814A>C" "r.(?)" "p.(Lys272Gln)" "" "0001026460" "00007761" "50" "23" "0" "23" "0" "c.23A>C" "r.(?)" "p.(Glu8Ala)" "" "0001040394" "00007761" "50" "7186" "0" "7186" "0" "c.7186T>C" "r.(?)" "p.(Phe2396Leu)" "" "0001040395" "00007761" "30" "6932" "0" "6932" "0" "c.6932G>A" "r.(?)" "p.(Arg2311His)" "" "0001040396" "00007761" "30" "6681" "0" "6681" "0" "c.6681A>C" "r.(?)" "p.(Ser2227=)" "" "0001040397" "00007761" "50" "6659" "0" "6659" "0" "c.6659G>A" "r.(?)" "p.(Arg2220Gln)" "" "0001040398" "00007761" "50" "6055" "0" "6055" "0" "c.6055G>A" "r.(?)" "p.(Glu2019Lys)" "" "0001040399" "00007761" "50" "5609" "0" "5609" "0" "c.5609G>C" "r.(?)" "p.(Gly1870Ala)" "" "0001040400" "00007761" "90" "5512" "0" "5512" "0" "c.5512G>A" "r.(?)" "p.(Gly1838Ser)" "" "0001040401" "00007761" "90" "5422" "1" "5422" "1" "c.5422+1G>T" "r.spl?" "p.?" "" "0001040402" "00007761" "90" "5368" "0" "5368" "0" "c.5368C>T" "r.(?)" "p.(Arg1790*)" "" "0001040403" "00007761" "90" "5183" "0" "5183" "0" "c.5183C>T" "r.(?)" "p.(Ala1728Val)" "" "0001040404" "00007761" "90" "5160" "0" "5160" "0" "c.5160C>G" "r.(?)" "p.(Cys1720Trp)" "" "0001040405" "00007761" "50" "4906" "0" "4906" "0" "c.4906G>A" "r.(?)" "p.(Gly1636Ser)" "" "0001040406" "00007761" "50" "4894" "0" "4894" "0" "c.4894C>T" "r.(?)" "p.(Arg1632Cys)" "" "0001040407" "00007761" "30" "4750" "0" "4750" "0" "c.4750G>A" "r.(?)" "p.(Glu1584Lys)" "" "0001040408" "00007761" "90" "4460" "-8" "4460" "-8" "c.4460-8G>A" "r.(=)" "p.(=)" "" "0001040409" "00007761" "50" "4277" "0" "4277" "0" "c.4277G>C" "r.(?)" "p.(Gly1426Ala)" "" "0001040410" "00007761" "70" "4162" "0" "4162" "0" "c.4162C>T" "r.(?)" "p.(Arg1388Cys)" "" "0001040411" "00007761" "50" "4115" "0" "4115" "0" "c.4115A>G" "r.(?)" "p.(His1372Arg)" "" "0001040412" "00007761" "70" "3712" "0" "3712" "0" "c.3712G>A" "r.(?)" "p.(Asp1238Asn)" "" "0001040413" "00007761" "30" "3338" "-5" "3338" "-5" "c.3338-5T>C" "r.spl?" "p.?" "" "0001040414" "00007761" "50" "3145" "0" "3145" "0" "c.3145G>A" "r.(?)" "p.(Gly1049Ser)" "" "0001040415" "00007761" "50" "2930" "0" "2930" "0" "c.2930T>G" "r.(?)" "p.(Met977Arg)" "" "0001040416" "00007761" "30" "2168" "-14" "2168" "-14" "c.2168-14T>C" "r.(=)" "p.(=)" "" "0001040417" "00007761" "50" "1041" "0" "1041" "0" "c.1041C>A" "r.(?)" "p.(Asn347Lys)" "" "0001040418" "00007761" "30" "538" "4" "538" "4" "c.538+4A>G" "r.spl?" "p.?" "" "0001040419" "00007761" "70" "292" "0" "309" "0" "c.292_309del" "r.(?)" "p.(Asn98_Pro103del)" "" "0001046492" "00007761" "90" "7975" "0" "7975" "0" "c.7975T>G" "r.(?)" "p.(Cys2659Gly)" "" "0001046493" "00007761" "90" "7754" "0" "7754" "0" "c.7754T>C" "r.(?)" "p.(Ile2585Thr)" "" "0001046494" "00007761" "70" "6866" "0" "6866" "0" "c.6866G>A" "r.(?)" "p.(Cys2289Tyr)" "" "0001046495" "00007761" "50" "2508" "0" "2508" "0" "c.2508T>A" "r.(?)" "p.(Ser836Arg)" "" "0001046496" "00007761" "50" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Gly77Arg)" "" "0001048195" "00007761" "10" "902" "0" "902" "0" "c.902G>T" "r.(?)" "p.(Gly301Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 700 "{{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" "0000320550" "0000831672" "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" "0000377870" "0000790299" "0000377871" "0000790300" "0000377872" "0000790301" "0000377873" "0000790302" "0000377874" "0000790303" "0000377875" "0000790304" "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" 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