### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FBN2) # 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}}" "FBN2" "fibrillin 2" "5" "q23-q31" "unknown" "NG_008750.1" "UD_132118802114" "" "http://www.LOVD.nl/FBN2" "" "1" "3604" "2201" "612570" "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/FBN2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-05-19 21:10:39" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00007762" "FBN2" "fibrillin 2" "001" "NM_001999.3" "" "NP_001990.2" "" "" "" "-439" "10285" "8739" "127873735" "127593601" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 16 "{{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" "" "" "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" "00239" "MFS" "Marfan syndrome (MFS)" "AD" "154700" "" "autosomal dominant" "" "00006" "2013-10-09 21:34:54" "00006" "2021-12-10 21:51:32" "00385" "DA" "arthrogryposis, distal (DA)" "" "" "" "" "" "00006" "2014-05-27 12:44:13" "00006" "2015-12-08 23:59:30" "00884" "LDS" "Loeys-Dietz syndrome (LDS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01262" "DA9;CCA" "arthrogryposis, distal, type 9 (DA-9, contractural arachnodactyly, congenital (CCA))" "AD" "121050" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04193" "TAAD" "aneurysms, aortic, thoracic, dissections (TAAD)" "" "" "" "" "" "00006" "2015-02-14 21:35:57" "00006" "2016-03-20 12:15:43" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39" "04468" "EOMD" "macular degeneration, early-onset (EOMD)" "AD" "616118" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" "05330" "TSC" "tuberous sclerosis" "" "" "" "" "" "00006" "2017-09-19 09:35:08" "00006" "2022-08-19 09:49:37" "05415" "USH" "Usher syndrome (USH)" "" "" "" "" "" "00006" "2018-04-02 16:40:44" "" "" "05987" "CTS" "carpal tunnel syndrome" "" "" "" "" "" "00006" "2021-11-11 14:17:08" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FBN2" "01262" "FBN2" "04468" ## Individuals ## Do not remove or alter this header ## ## Count = 126 "{{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}}" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00065154" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "M" "?" "Switzerland" "00y10m" "0" "" "" "Europe" "SIDS219" "00103747" "" "" "" "1" "" "01602" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "M" "" "Switzerland" "22y" "0" "" "" "Europe" "SUDS049" "00132810" "" "" "" "18" "" "00006" "{PMID:Maslen 1997:9199560}" "6-generation family, 18 affecteds (9F, 9M)" "F;M" "no" "Switzerland" "" "0" "" "" "" "09199560-FamS" "00155288" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00225670" "" "" "" "1" "" "00006" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "25558065-Fam12DG0104" "00244858" "" "" "" "1" "" "02284" "Wischmeijer et al, 2019 submitted" "" "M" "no" "Morocco" "" "0" "" "" "" "ED2161" "00265941" "" "" "" "2" "" "00596" "{PMID:Caylor 2018:29926239}" "index suspected of having Marfan syndrome; has family history of several maternal relatives with tall stature; history of epilepsy in maternal grandfather; both parents tested; variant in mother; sister tested negative for the variant" "M" "?" "Pakistan" "" "0" "" "" "" "Family 3" "00293715" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293716" "" "" "" "33" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293717" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293718" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293719" "" "" "" "75" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293720" "" "" "" "54" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295205" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296693" "" "" "" "1" "" "00006" "{PMID:Haskell 2017:28611029}" "" "M" "" "United States" "" "0" "" "" "white" "NCG_00157" "00305006" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306189" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "87" "00307225" "" "" "" "1" "" "00534" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Australia" "" "0" "" "" "" "D17-1980" "00315500" "" "" "" "1" "" "01602" "{PMID:Neubauer 2021:33895855}" "" "F" "" "Switzerland" "57y" "" "" "" "Europe" "SUDS066" "00324659" "" "" "" "1" "" "03653" "Not yet published" "Unaffected heterozygous parents" "F" "no" "Viet Nam" "" "" "" "" "Asian" "Pat1" "00362004" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat7AB" "00362006" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat9AB" "00362254" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "no" "Iran" "" "0" "" "" "" "Pat44" "00390640" "" "" "" "10" "" "00006" "{PMID:Peeters 2021:32900841}" "4-generation family, 10 affected (5F, 5M)" "F;M" "no" "Belgium" "" "0" "" "" "" "family" "00390642" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 216 cases carpal tunnel syndrome (adult onset)" "" "" "(Belgium);(Netherlands)" "" "0" "" "" "" "" "00390643" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 216 cases carpal tunnel syndrome (adult onset)" "" "" "(Belgium);(Netherlands)" "" "0" "" "" "" "" "00390644" "" "" "" "28" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 216 cases carpal tunnel syndrome (adult onset)" "" "" "(Belgium);(Netherlands)" "" "0" "" "" "" "" "00390645" "" "" "" "2" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 216 cases carpal tunnel syndrome (adult onset)" "" "" "(Belgium);(Netherlands)" "" "0" "" "" "" "" "00390646" "" "" "" "4" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 216 cases carpal tunnel syndrome (adult onset)" "" "" "(Belgium);(Netherlands)" "" "0" "" "" "" "" "00390647" "" "" "" "6" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 216 cases carpal tunnel syndrome (adult onset)" "" "" "(Belgium);(Netherlands)" "" "0" "" "" "" "" "00390648" "" "" "" "5" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 216 cases carpal tunnel syndrome (adult onset)" "" "" "(Belgium);(Netherlands)" "" "0" "" "" "" "" "00390649" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 216 cases carpal tunnel syndrome (adult onset)" "" "" "(Belgium);(Netherlands)" "" "0" "" "" "" "" "00390650" "" "" "" "5" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 216 cases carpal tunnel syndrome (adult onset)" "" "" "(Belgium);(Netherlands)" "" "0" "" "" "" "" "00390651" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 216 cases carpal tunnel syndrome (adult onset)" "" "" "(Belgium);(Netherlands)" "" "0" "" "" "" "" "00390652" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 216 cases carpal tunnel syndrome (adult onset)" "" "" "(Belgium);(Netherlands)" "" "0" "" "" "" "" "00390653" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 216 cases carpal tunnel syndrome (adult onset)" "" "" "(Belgium);(Netherlands)" "" "0" "" "" "" "" "00390654" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 216 cases carpal tunnel syndrome (adult onset)" "" "" "(Belgium);(Netherlands)" "" "0" "" "" "" "" "00390655" "" "" "" "2" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 216 cases carpal tunnel syndrome (adult onset)" "" "" "(Belgium);(Netherlands)" "" "0" "" "" "" "" "00390656" "" "" "" "2" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390657" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390658" "" "" "" "2" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390659" "" "" "" "2" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390660" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390661" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390662" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390663" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390664" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390665" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390666" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390667" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390668" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390669" "" "" "" "2" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390670" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390671" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390672" "" "" "" "2" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390673" "" "" "" "3" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390674" "" "" "" "3" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390675" "" "" "" "3" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390676" "" "" "" "33" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390677" "" "" "" "5" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390678" "" "" "" "5" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390679" "" "" "" "5" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390680" "" "" "" "7" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 714 healthy controls" "" "" "Belgium" "" "0" "" "" "" "" "00390681" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390682" "" "" "" "2" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390683" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390684" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390685" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390686" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390687" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390688" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390689" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390690" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390691" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390692" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390693" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390694" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390695" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390696" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390697" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390698" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390699" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390700" "" "" "" "2" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390701" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390702" "" "" "" "1" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390703" "" "" "" "12" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390704" "" "" "" "2" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390705" "" "" "" "3" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390706" "" "" "" "38" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390707" "" "" "" "4" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390708" "" "" "" "5" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00390709" "" "" "" "7" "" "00006" "{PMID:Peeters 2021:32900841}" "analysis 913 cardiovascular disorder cases" "" "" "Belgium" "" "0" "" "" "" "" "00398095" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat33" "00398096" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat34" "00398097" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat35" "00398145" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat90" "00398150" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat95" "00398151" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat96" "00398152" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat97" "00398153" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat98" "00398154" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat99" "00398155" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat100" "00398156" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat101" "00398157" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat102" "00398158" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat103" "00398159" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat104" "00398333" "" "" "" "2" "" "00006" "{PMID:Schubert 2016:26854089}" "3-generation family, affected father/son" "M" "" "United States" "" "0" "" "" "" "Fam1PatIII3" "00399283" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "177596" "00414397" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP64" "00419508" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "9010" "00432455" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00447376" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-427" "00447393" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-457" "00447565" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MDS-422" "00447624" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1295" "00450766" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "079818" "00453734" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV968" "00453736" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV198" "00453737" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV528" "00453738" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV254" "00453742" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV337" "00453809" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV987" "00460888" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00460890" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00464607" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "319897" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 127 "{{individualid}}" "{{diseaseid}}" "00050575" "00198" "00065154" "02087" "00103747" "05166" "00132810" "00385" "00155288" "00198" "00225670" "00198" "00244858" "01262" "00265941" "00239" "00265941" "05330" "00293715" "00198" "00293716" "00198" "00293717" "00198" "00293718" "00198" "00293719" "00198" "00293720" "00198" "00295205" "00198" "00296693" "00198" "00305006" "00198" "00306189" "01262" "00307225" "00385" "00315500" "05166" "00324659" "01262" "00362004" "04214" "00362006" "04214" "00362254" "05415" "00390640" "00198" "00390642" "05987" "00390643" "05987" "00390644" "05987" "00390645" "05987" "00390646" "05987" "00390647" "05987" "00390648" "05987" "00390649" "05987" "00390650" "05987" "00390651" "05987" "00390652" "05987" "00390653" "05987" "00390654" "05987" "00390655" "05987" "00390656" "00000" "00390657" "00000" "00390658" "00000" "00390659" "00000" "00390660" "00000" "00390661" "00000" "00390662" "00000" "00390663" "00000" "00390664" "00000" "00390665" "00000" "00390666" "00000" "00390667" "00000" "00390668" "00000" "00390669" "00000" "00390670" "00000" "00390671" "00000" "00390672" "00000" "00390673" "00000" "00390674" "00000" "00390675" "00000" "00390676" "00000" "00390677" "00000" "00390678" "00000" "00390679" "00000" "00390680" "00000" "00390681" "00000" "00390682" "00000" "00390683" "00000" "00390684" "00000" "00390685" "00000" "00390686" "00000" "00390687" "00000" "00390688" "00000" "00390689" "00000" "00390690" "00000" "00390691" "00000" "00390692" "00000" "00390693" "00000" "00390694" "00000" "00390695" "00000" "00390696" "00000" "00390697" "00000" "00390698" "00000" "00390699" "00000" "00390700" "00000" "00390701" "00000" "00390702" "00000" "00390703" "00000" "00390704" "00000" "00390705" "00000" "00390706" "00000" "00390707" "00000" "00390708" "00000" "00390709" "00000" "00398095" "00198" "00398096" "00198" "00398097" "00198" "00398145" "00198" "00398150" "00198" "00398151" "00198" "00398152" "00198" "00398153" "00198" "00398154" "00198" "00398155" "00198" "00398156" "00198" "00398157" "00198" "00398158" "00198" "00398159" "00198" "00398333" "00884" "00399283" "01262" "00414397" "00198" "00419508" "00198" "00432455" "04193" "00447376" "00198" "00447393" "00198" "00447565" "00198" "00447624" "00198" "00450766" "04249" "00453734" "00152" "00453736" "00152" "00453737" "00152" "00453738" "00152" "00453742" "00152" "00453809" "00152" "00460888" "00198" "00460890" "00198" "00464607" "01262" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00152, 00198, 00239, 00385, 00884, 01262, 02087, 04193, 04214, 04249, 04468, 05166, 05330, 05415, 05987 ## Count = 61 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Development/Cognition}}" "{{Phenotype/Seizures}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/TSC}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000051259" "02087" "00065154" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081683" "05166" "00103747" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105573" "00385" "00132810" "00006" "Familial, autosomal dominant" "" "congenital contractural arachnodactyly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000127791" "00198" "00155288" "01807" "Unknown" "" "HP:0002647 (Aortic dissection)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000170776" "00198" "00225670" "00006" "Familial, autosomal recessive" "" "see paper; …, fetal akinesia with brain ischemia and neonatal death" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "neurogenetic disorder" "" "0000203719" "00239" "00265941" "00596" "Unknown" "" "index = Lisch nodules (HP:0009737);pneumothorax (HP:0002107);chronic constipation (HP:0012450);scoliosis (HP:0002650);malar hypoplasia (HP:0000272);retrognathia (HP:0000278);micrognathia (HP:0000347);tall forehead (HP:0000348);enophthalmos (HP:0000490)kyphosis." "" "" "" "18y" "" "" "" "" "" "" "" "" "" "TSC-1" "Marfan syndrome" "" "0000203720" "05330" "00265941" "00596" "Familial, autosomal dominant" "" "41y mother = focal seizures (HP:0007359);subependymal nodules (HP:0009716). maternal grandfather = epilepsy" "" "" "" "18y" "" "" "dysplasias cortical;macules hypomelanotic" "" "" "" "" "" "" "TSC-1" "" "" "0000224093" "00198" "00296693" "00006" "Unknown" "44y" "thoracic aneurysm, aortic dissection, mitral regurgitation, strong familial history aneurysm" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic aneurysm" "" "0000232036" "01262" "00306189" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233030" "00385" "00307225" "00534" "Familial, autosomal dominant" "" "distal arthrogryposis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "distal arthrogryposis" "" "0000243159" "01262" "00324659" "03653" "Familial, autosomal recessive" "" "Arachnodactyly, contractures, ear anomalies, tall slender stature, congenital cardiac defect, scoliosis, cleft spine" "" "" "" "" "Congenital" "" "" "" "" "" "" "" "" "" "Arachnodactyly" "" "0000257397" "04214" "00362004" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000257399" "04214" "00362006" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000257668" "05415" "00362254" "02404" "Familial, autosomal recessive" "" "Bilateral moderate high-frequency\r\nhearing loss, severely reduced visual acuity, photophobia, nyctalopia, severe macular\r\natrophy, diffuse pigmentary changes, and mottling with notable diminished central macular thickness" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000284176" "00198" "00390640" "00006" "Familial, autosomal dominant" "" "see paper; ..., carpal tunnel syndrome, pain, numbness and/or decreased grip strength both hands and fingers, atrophy thenar muscles (most affecteds); early onset (youngest 10m)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "carpal tunnel syndrome" "" "0000284178" "05987" "00390642" "00006" "Unknown" "" "adult onset carpal tunnel syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "carpal tunnel syndrome (adult onset)" "" "0000284179" "05987" "00390643" "00006" "Unknown" "" "adult onset carpal tunnel syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "carpal tunnel syndrome (adult onset)" "" "0000284180" "05987" "00390644" "00006" "Unknown" "" "adult onset carpal tunnel syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "carpal tunnel syndrome (adult onset)" "" "0000284181" "05987" "00390645" "00006" "Unknown" "" "adult onset carpal tunnel syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "carpal tunnel syndrome (adult onset)" "" "0000284182" "05987" "00390646" "00006" "Unknown" "" "adult onset carpal tunnel syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "carpal tunnel syndrome (adult onset)" "" "0000284183" "05987" "00390647" "00006" "Unknown" "" "adult onset carpal tunnel syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "carpal tunnel syndrome (adult onset)" "" "0000284184" "05987" "00390648" "00006" "Unknown" "" "adult onset carpal tunnel syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "carpal tunnel syndrome (adult onset)" "" "0000284185" "05987" "00390649" "00006" "Unknown" "" "adult onset carpal tunnel syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "carpal tunnel syndrome (adult onset)" "" "0000284186" "05987" "00390650" "00006" "Unknown" "" "adult onset carpal tunnel syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "carpal tunnel syndrome (adult onset)" "" "0000284187" "05987" "00390651" "00006" "Unknown" "" "adult onset carpal tunnel syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "carpal tunnel syndrome (adult onset)" "" "0000284188" "05987" "00390652" "00006" "Unknown" "" "adult onset carpal tunnel syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "carpal tunnel syndrome (adult onset)" "" "0000284189" "05987" "00390653" "00006" "Unknown" "" "adult onset carpal tunnel syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "carpal tunnel syndrome (adult onset)" "" "0000284190" "05987" "00390654" "00006" "Unknown" "" "adult onset carpal tunnel syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "carpal tunnel syndrome (adult onset)" "" "0000284191" "05987" "00390655" "00006" "Unknown" "" "adult onset carpal tunnel syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "carpal tunnel syndrome (adult onset)" "" "0000291205" "00198" "00398095" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291206" "00198" "00398096" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291207" "00198" "00398097" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291255" "00198" "00398145" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291260" "00198" "00398150" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291261" "00198" "00398151" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291262" "00198" "00398152" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291263" "00198" "00398153" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291264" "00198" "00398154" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291265" "00198" "00398155" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291266" "00198" "00398156" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291267" "00198" "00398157" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291268" "00198" "00398158" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291269" "00198" "00398159" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291456" "00884" "00398333" "00006" "Familial, autosomal dominant" "19y" "see paper; ..., borderline TAA" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000292394" "01262" "00399283" "01164" "Unknown" "40y" "Spastic diplegia, Abnormality of the spinal cord, Paralysis, Tip-toe gait" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000306232" "00198" "00414397" "00000" "Unknown" "27y" "Congenital Contractural Arachnodactyly;Distal Arthrogryposis type 7" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310789" "00198" "00419508" "02300" "Isolated (sporadic)" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000322110" "05166" "00315500" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000336575" "00198" "00447376" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000336592" "00198" "00447393" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000336764" "00198" "00447565" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000336823" "00198" "00447624" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000339821" "04249" "00450766" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000342391" "00152" "00453734" "00006" "Unknown" "" "aortic valve replacement; coarctation" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342393" "00152" "00453736" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342394" "00152" "00453737" "00006" "Unknown" "" "unicommisural aortic valve, large ascending aneurysm" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342395" "00152" "00453738" "00006" "Unknown" "" "large ascending aneurysm" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342399" "00152" "00453742" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342466" "00152" "00453809" "00006" "Unknown" "" "ventricular septal defect patch closure ; coarctation, ventricular septal defect" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000350595" "01262" "00464607" "01164" "Unknown" "02y" "Hip dysplasia, Patellar dislocation, Micrognathia, Arthrogryposis multiplex congenita, Distal arthrogryposis" "00y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 126 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000065305" "00065154" "1" "01602" "01602" "2016-05-19 14:53:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000104202" "00103747" "1" "01602" "01602" "2017-04-18 11:57:11" "" "" "SEQ-NG-I" "DNA" "" "" "0000133644" "00132810" "1" "00006" "00006" "2017-11-09 20:34:34" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000156152" "00155288" "1" "01807" "01807" "2018-03-21 04:48:31" "" "" "SEQ" "DNA" "" "" "0000226737" "00225670" "1" "00006" "00006" "2019-02-22 18:37:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000245970" "00244858" "1" "02284" "02284" "2019-06-28 14:37:26" "" "" "PCR;SEQ" "DNA" "Blood" "" "0000267062" "00265941" "1" "00596" "00596" "2019-10-11 19:09:07" "" "" "SEQ-NG" "DNA" "Blood" "whole exome sequencing" "0000294883" "00293715" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294884" "00293716" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294885" "00293717" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294886" "00293718" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294887" "00293719" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294888" "00293720" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296373" "00295205" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297803" "00296693" "1" "00006" "00006" "2020-04-11 08:30:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000306135" "00305006" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307323" "00306189" "1" "03695" "03695" "2020-07-11 03:25:09" "" "" "SEQ-NG" "DNA" "" "" "0000308367" "00307225" "1" "00534" "00006" "2020-08-05 17:01:04" "" "" "SEQ" "DNA" "" "" "0000316677" "00315500" "1" "01602" "01602" "2020-10-27 16:22:03" "01602" "2023-02-15 09:45:43" "SEQ-NG" "DNA" "" "" "0000325867" "00324659" "1" "03653" "03653" "2020-12-21 14:48:56" "" "" "SEQ-NG" "DNA;RNA" "blood" "" "0000363232" "00362004" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363234" "00362006" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363483" "00362254" "1" "02404" "02404" "2021-04-17 14:41:52" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000391881" "00390640" "1" "00006" "00006" "2021-11-11 09:19:05" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000391883" "00390642" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391884" "00390643" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391885" "00390644" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391886" "00390645" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391887" "00390646" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391888" "00390647" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391889" "00390648" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391890" "00390649" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391891" "00390650" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391892" "00390651" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391893" "00390652" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391894" "00390653" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391895" "00390654" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391896" "00390655" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391897" "00390656" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391898" "00390657" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391899" "00390658" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391900" "00390659" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391901" "00390660" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391902" "00390661" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391903" "00390662" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391904" "00390663" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391905" "00390664" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391906" "00390665" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391907" "00390666" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391908" "00390667" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391909" "00390668" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391910" "00390669" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391911" "00390670" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391912" "00390671" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391913" "00390672" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391914" "00390673" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391915" "00390674" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391916" "00390675" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391917" "00390676" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391918" "00390677" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391919" "00390678" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391920" "00390679" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391921" "00390680" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391922" "00390681" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391923" "00390682" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391924" "00390683" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391925" "00390684" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391926" "00390685" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391927" "00390686" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391928" "00390687" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391929" "00390688" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391930" "00390689" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391931" "00390690" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391932" "00390691" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391933" "00390692" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391934" "00390693" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391935" "00390694" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391936" "00390695" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391937" "00390696" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391938" "00390697" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391939" "00390698" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391940" "00390699" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391941" "00390700" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391942" "00390701" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391943" "00390702" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391944" "00390703" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391945" "00390704" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391946" "00390705" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391947" "00390706" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391948" "00390707" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391949" "00390708" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000391950" "00390709" "1" "00006" "00006" "2021-11-11 14:35:35" "" "" "SEQ" "DNA" "" "" "0000399338" "00398095" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399339" "00398096" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399340" "00398097" "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" "0000399393" "00398150" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399394" "00398151" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399395" "00398152" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399396" "00398153" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399397" "00398154" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399398" "00398155" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399399" "00398156" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399400" "00398157" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399401" "00398158" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399402" "00398159" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399579" "00398333" "1" "00006" "00006" "2022-01-04 15:29:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000400526" "00399283" "1" "01164" "01164" "2022-01-18 16:32:04" "" "" "SEQ-NG-I" "DNA" "" "" "0000415677" "00414397" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000420812" "00419508" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000433895" "00432455" "1" "01741" "01741" "2023-02-22 15:46:44" "" "" "SEQ-NG" "DNA" "" "" "0000448953" "00447376" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448970" "00447393" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449142" "00447565" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449201" "00447624" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000452364" "00450766" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000455346" "00453734" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455348" "00453736" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455349" "00453737" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455350" "00453738" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455354" "00453742" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455421" "00453809" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000462520" "00460888" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" "0000462522" "00460890" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" "0000466250" "00464607" "1" "01164" "01164" "2025-04-01 13:51:00" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 97 "{{screeningid}}" "{{geneid}}" "0000133644" "FBN2" "0000226737" "FBN2" "0000245970" "FBN2" "0000267062" "FBN3" "0000297803" "NUP43" "0000307323" "FBN2" "0000308367" "FBN2" "0000325867" "FBN2" "0000391883" "FBN2" "0000391884" "FBN2" "0000391885" "FBN2" "0000391886" "FBN2" "0000391887" "FBN2" "0000391888" "FBN2" "0000391889" "FBN2" "0000391890" "FBN2" "0000391891" "FBN2" "0000391892" "FBN2" "0000391893" "FBN2" "0000391894" "FBN2" "0000391895" "FBN2" "0000391896" "FBN2" "0000391897" "FBN2" "0000391898" "FBN2" "0000391899" "FBN2" "0000391900" "FBN2" "0000391901" "FBN2" "0000391902" "FBN2" "0000391903" "FBN2" "0000391904" "FBN2" "0000391905" "FBN2" "0000391906" "FBN2" "0000391907" "FBN2" "0000391908" "FBN2" "0000391909" "FBN2" "0000391910" "FBN2" "0000391911" "FBN2" "0000391912" "FBN2" "0000391913" "FBN2" "0000391914" "FBN2" "0000391915" "FBN2" "0000391916" "FBN2" "0000391917" "FBN2" "0000391918" "FBN2" "0000391919" "FBN2" "0000391920" "FBN2" "0000391921" "FBN2" "0000391922" "FBN2" "0000391923" "FBN2" "0000391924" "FBN2" "0000391925" "FBN2" "0000391926" "FBN2" "0000391927" "FBN2" "0000391928" "FBN2" "0000391929" "FBN2" "0000391930" "FBN2" "0000391931" "FBN2" "0000391932" "FBN2" "0000391933" "FBN2" "0000391934" "FBN2" "0000391935" "FBN2" "0000391936" "FBN2" "0000391937" "FBN2" "0000391938" "FBN2" "0000391939" "FBN2" "0000391940" "FBN2" "0000391941" "FBN2" "0000391942" "FBN2" "0000391943" "FBN2" "0000391944" "FBN2" "0000391945" "FBN2" "0000391946" "FBN2" "0000391947" "FBN2" "0000391948" "FBN2" "0000391949" "FBN2" "0000391950" "FBN2" "0000399338" "FBN2" "0000399339" "FBN2" "0000399340" "FBN2" "0000399388" "FBN1" "0000399388" "FBN2" "0000399393" "FBN2" "0000399394" "FBN2" "0000399395" "FBN2" "0000399396" "FBN2" "0000399397" "FBN2" "0000399398" "FBN2" "0000399399" "FBN2" "0000399400" "FBN2" "0000399401" "FBN2" "0000399402" "FBN2" "0000400526" "FBN2" "0000415677" "FBN2" "0000433895" "FBN2" "0000462520" "FBN2" "0000462522" "FBN2" "0000466250" "FBN2" ## 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 = 852 "{{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}}" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000096982" "0" "50" "5" "127668685" "127668685" "subst" "0.00369856" "01602" "FBN2_000001" "g.127668685G>T" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Germline" "?" "rs78727187" "0" "" "" "g.128332993G>T" "" "VUS" "" "0000168859" "0" "50" "5" "127614376" "127614376" "subst" "0.00219985" "01602" "FBN2_000002" "g.127614376C>A" "" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "" "" "Unknown" "" "rs34600572" "0" "" "" "g.128278684C>A" "" "VUS" "" "0000222896" "1" "90" "5" "127670562" "127670562" "subst" "0" "00006" "FBN2_000003" "g.127670562A>C" "" "{PMID:Maslen 1997:09199560}" "" "IVS30 t-26g" "variant transcript 0.25 total mRNA; suggested branchpoint variant" "Germline" "yes" "" "0" "" "" "g.128334870A>C" "" "pathogenic" "" "0000247891" "0" "10" "5" "127614472" "127614472" "subst" "0.726663" "02325" "FBN2_000034" "g.127614472A>G" "" "" "" "FBN2(NM_001999.3):c.7200T>C (p.S2400=), FBN2(NM_001999.4):c.7200T>C (p.S2400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128278780A>G" "" "benign" "" "0000249747" "0" "50" "5" "127637199" "127637199" "subst" "8.14783E-6" "02325" "FBN2_000060" "g.127637199A>G" "" "" "" "FBN2(NM_001999.4):c.5921T>C (p.I1974T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128301507A>G" "" "VUS" "" "0000249869" "0" "10" "5" "127614472" "127614472" "subst" "0.726663" "02329" "FBN2_000034" "g.127614472A>G" "" "" "" "FBN2(NM_001999.3):c.7200T>C (p.S2400=), FBN2(NM_001999.4):c.7200T>C (p.S2400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128278780A>G" "" "benign" "" "0000249949" "0" "30" "5" "127744500" "127744500" "subst" "0.0016569" "02329" "FBN2_000132" "g.127744500A>C" "" "" "" "FBN2(NM_001999.3):c.953-8T>G (p.(=)), FBN2(NM_001999.4):c.953-8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128408807A>C" "" "likely benign" "" "0000249952" "0" "10" "5" "127700294" "127700294" "subst" "0.000711897" "02329" "FBN2_000119" "g.127700294A>T" "" "" "" "FBN2(NM_001999.3):c.2427T>A (p.I809=, p.(Ile809=)), FBN2(NM_001999.4):c.2427T>A (p.I809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128364601A>T" "" "benign" "" "0000250094" "0" "10" "5" "127638759" "127638759" "subst" "0.0938176" "02329" "FBN2_000061" "g.127638759A>G" "" "" "" "FBN2(NM_001999.4):c.5823T>C (p.H1941=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128303067A>G" "" "benign" "" "0000250199" "0" "10" "5" "127616014" "127616014" "subst" "0.0749994" "02329" "FBN2_000036" "g.127616014A>G" "" "" "" "FBN2(NM_001999.4):c.7013-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128280322A>G" "" "benign" "" "0000250200" "0" "10" "5" "127648500" "127648500" "subst" "0.0865705" "02329" "FBN2_000079" "g.127648500A>G" "" "" "" "FBN2(NM_001999.4):c.4718-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128312808A>G" "" "benign" "" "0000250281" "0" "30" "5" "127615957" "127615957" "subst" "0" "02329" "FBN2_000035" "g.127615957A>C" "" "" "" "FBN2(NM_001999.4):c.7065T>G (p.V2355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128280265A>C" "" "likely benign" "" "0000250282" "0" "30" "5" "127712494" "127712494" "subst" "8.13603E-6" "02329" "FBN2_000122" "g.127712494A>G" "" "" "" "FBN2(NM_001999.4):c.1902T>C (p.N634=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128376801A>G" "" "likely benign" "" "0000250283" "0" "30" "5" "127744488" "127744488" "subst" "0" "02329" "FBN2_000131" "g.127744488A>G" "" "" "" "FBN2(NM_001999.4):c.957T>C (p.I319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128408795A>G" "" "likely benign" "" "0000250427" "0" "30" "5" "127609677" "127609677" "subst" "0" "02329" "FBN2_000026" "g.127609677A>G" "" "" "" "FBN2(NM_001999.4):c.7712-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128273985A>G" "" "likely benign" "" "0000250428" "0" "30" "5" "127611715" "127611715" "subst" "0" "02329" "FBN2_000030" "g.127611715A>T" "" "" "" "FBN2(NM_001999.4):c.7594+15T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128276023A>T" "" "likely benign" "" "0000250429" "0" "30" "5" "127641185" "127641185" "subst" "6.50185E-5" "02329" "FBN2_000066" "g.127641185A>C" "" "" "" "FBN2(NM_001999.4):c.5674+18T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128305493A>C" "" "likely benign" "" "0000250430" "0" "30" "5" "127654712" "127654712" "del" "0" "02329" "FBN2_000085" "g.127654712del" "" "" "" "FBN2(NM_001999.4):c.4472-12delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128319020del" "" "likely benign" "" "0000250431" "0" "30" "5" "127654711" "127654711" "subst" "0.000298346" "02329" "FBN2_000086" "g.127654711A>T" "" "" "" "FBN2(NM_001999.4):c.4472-18T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128319019A>T" "" "likely benign" "" "0000250764" "0" "30" "5" "127744500" "127744500" "subst" "0.0016569" "02326" "FBN2_000132" "g.127744500A>C" "" "" "" "FBN2(NM_001999.3):c.953-8T>G (p.(=)), FBN2(NM_001999.4):c.953-8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128408807A>C" "" "likely benign" "" "0000253093" "0" "10" "5" "127614472" "127614472" "subst" "0.726663" "01943" "FBN2_000034" "g.127614472A>G" "" "" "" "FBN2(NM_001999.3):c.7200T>C (p.S2400=), FBN2(NM_001999.4):c.7200T>C (p.S2400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128278780A>G" "" "benign" "" "0000253983" "0" "30" "5" "127744500" "127744500" "subst" "0.0016569" "01943" "FBN2_000132" "g.127744500A>C" "" "" "" "FBN2(NM_001999.3):c.953-8T>G (p.(=)), FBN2(NM_001999.4):c.953-8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128408807A>C" "" "likely benign" "" "0000254043" "0" "30" "5" "127700294" "127700294" "subst" "0.000711897" "01943" "FBN2_000119" "g.127700294A>T" "" "" "" "FBN2(NM_001999.3):c.2427T>A (p.I809=, p.(Ile809=)), FBN2(NM_001999.4):c.2427T>A (p.I809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128364601A>T" "" "likely benign" "" "0000254317" "0" "30" "5" "127693017" "127693017" "subst" "6.49957E-5" "01943" "FBN2_000114" "g.127693017A>G" "" "" "" "FBN2(NM_001999.3):c.2625T>C (p.C875=), FBN2(NM_001999.4):c.2625T>C (p.C875=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128357325A>G" "" "likely benign" "" "0000255154" "0" "30" "5" "127863575" "127863575" "subst" "6.52151E-5" "01943" "FBN2_000139" "g.127863575A>G" "" "" "" "FBN2(NM_001999.3):c.522T>C (p.Y174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128527882A>G" "" "likely benign" "" "0000255996" "0" "50" "5" "127671744" "127671744" "subst" "1.62678E-5" "01943" "FBN2_000101" "g.127671744A>C" "" "" "" "FBN2(NM_001999.3):c.3660T>G (p.I1220M, p.(Ile1220Met)), FBN2(NM_001999.4):c.3660T>G (p.I1220M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128336052A>C" "" "VUS" "" "0000256314" "0" "50" "5" "127595490" "127595490" "subst" "4.06805E-6" "01943" "FBN2_000009" "g.127595490A>G" "" "" "" "FBN2(NM_001999.3):c.8396T>C (p.M2799T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128259798A>G" "" "VUS" "" "0000280736" "0" "10" "5" "127685135" "127685135" "subst" "0.727969" "02325" "FBN2_000112" "g.127685135C>T" "" "" "" "FBN2(NM_001999.3):c.2893G>A (p.V965I), FBN2(NM_001999.4):c.2893G>A (p.V965I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128349443C>T" "" "benign" "" "0000280737" "0" "50" "5" "127654670" "127654670" "subst" "8.13875E-6" "02325" "FBN2_000084" "g.127654670T>G" "" "" "" "FBN2(NM_001999.4):c.4495A>C (p.(Asn1499His), p.N1499H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128318978T>G" "" "VUS" "" "0000280738" "0" "10" "5" "127640783" "127640783" "subst" "0.708846" "02325" "FBN2_000064" "g.127640783G>A" "" "" "" "FBN2(NM_001999.3):c.5675-10_5675-9delTCinsTT, FBN2(NM_001999.4):c.5675-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128305091G>A" "" "benign" "" "0000280739" "0" "50" "5" "127637198" "127637198" "subst" "8.14757E-6" "02325" "FBN2_000059" "g.127637198T>C" "" "" "" "FBN2(NM_001999.4):c.5922A>G (p.I1974M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128301506T>C" "" "VUS" "" "0000280740" "0" "10" "5" "127622983" "127622983" "subst" "0.526184" "02325" "FBN2_000042" "g.127622983C>T" "" "" "" "FBN2(NM_001999.4):c.6880+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128287291C>T" "" "benign" "" "0000280741" "0" "10" "5" "127777997" "127777997" "subst" "0" "02325" "FBN2_000133" "g.127777997G>A" "" "" "" "FBN2(NM_001999.4):c.952+4177C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128442304G>A" "" "benign" "" "0000283084" "0" "30" "5" "127873187" "127873187" "subst" "0.000236952" "02329" "FBN2_000144" "g.127873187G>T" "" "" "" "FBN2(NM_001999.3):c.110C>A (p.P37Q, p.(Pro37Gln)), FBN2(NM_001999.4):c.110C>A (p.P37Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128537494G>T" "" "likely benign" "" "0000283085" "0" "10" "5" "127873186" "127873186" "subst" "0.0884726" "02329" "FBN2_000143" "g.127873186C>T" "" "" "" "FBN2(NM_001999.4):c.111G>A (p.P37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128537493C>T" "" "benign" "" "0000283086" "0" "10" "5" "127727853" "127727853" "subst" "0.0020888" "02329" "FBN2_000126" "g.127727853G>A" "" "" "" "FBN2(NM_001999.3):c.1466-5C>T (p.?), FBN2(NM_001999.4):c.1466-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128392160G>A" "" "benign" "" "0000283087" "0" "10" "5" "127873094" "127873094" "subst" "0.0303035" "02329" "FBN2_000140" "g.127873094G>A" "" "" "" "FBN2(NM_001999.3):c.203C>T (p.(Ala68Val)), FBN2(NM_001999.4):c.203C>T (p.A68V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128537401G>A" "" "benign" "" "0000283088" "0" "70" "5" "127710318" "127710318" "del" "0" "02329" "FBN2_000121" "g.127710318del" "" "" "" "FBN2(NM_001999.4):c.2095+4delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128374625del" "" "likely pathogenic" "" "0000283089" "0" "30" "5" "127697462" "127697462" "subst" "7.71643E-5" "02329" "FBN2_000118" "g.127697462C>T" "" "" "" "FBN2(NM_001999.4):c.2508G>A (p.T836=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128361769C>T" "" "likely benign" "" "0000283090" "0" "70" "5" "127686610" "127686610" "subst" "0" "02329" "FBN2_000113" "g.127686610C>T" "" "" "" "FBN2(NM_001999.4):c.2762G>A (p.C921Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128350918C>T" "" "likely pathogenic" "" "0000283091" "0" "10" "5" "127685135" "127685135" "subst" "0.727969" "02329" "FBN2_000112" "g.127685135C>T" "" "" "" "FBN2(NM_001999.3):c.2893G>A (p.V965I), FBN2(NM_001999.4):c.2893G>A (p.V965I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128349443C>T" "" "benign" "" "0000283092" "0" "10" "5" "127685088" "127685088" "subst" "0.000836752" "02329" "FBN2_000111" "g.127685088G>A" "" "" "" "FBN2(NM_001999.3):c.2940C>T (p.C980=), FBN2(NM_001999.4):c.2940C>T (p.C980=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128349396G>A" "" "benign" "" "0000283093" "0" "10" "5" "127681251" "127681251" "subst" "0.015815" "02329" "FBN2_000110" "g.127681251C>T" "" "" "" "FBN2(NM_001999.3):c.3015G>A (p.L1005=, p.(Leu1005=)), FBN2(NM_001999.4):c.3015G>A (p.L1005=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128345559C>T" "" "benign" "" "0000283094" "0" "30" "5" "127680174" "127680174" "subst" "8.12414E-6" "02329" "FBN2_000106" "g.127680174C>T" "" "" "" "FBN2(NM_001999.4):c.3246G>A (p.G1082=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128344482C>T" "" "likely benign" "" "0000283095" "0" "50" "5" "127680140" "127680140" "subst" "4.06184E-6" "02329" "FBN2_000105" "g.127680140C>T" "" "" "" "FBN2(NM_001999.3):c.3280G>A (p.(Gly1094Arg)), FBN2(NM_001999.4):c.3280G>A (p.G1094R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128344448C>T" "" "VUS" "" "0000283096" "0" "90" "5" "127674630" "127674630" "subst" "0" "02329" "FBN2_000102" "g.127674630C>G" "" "" "" "FBN2(NM_001999.4):c.3467G>C (p.C1156S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128338938C>G" "" "pathogenic" "" "0000283097" "0" "10" "5" "127671232" "127671232" "subst" "0.00717357" "02329" "FBN2_000099" "g.127671232G>A" "" "" "" "FBN2(NM_001999.3):c.3762C>T (p.(Asp1254=)), FBN2(NM_001999.4):c.3762C>T (p.D1254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128335540G>A" "" "benign" "" "0000283098" "0" "10" "5" "127670997" "127670997" "subst" "0.00120343" "02329" "FBN2_000098" "g.127670997C>A" "" "" "" "FBN2(NM_001999.4):c.3848-10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128335305C>A" "" "benign" "" "0000283099" "0" "10" "5" "127670412" "127670412" "subst" "0.00515585" "02329" "FBN2_000093" "g.127670412T>G" "" "" "" "FBN2(NM_001999.3):c.4098A>C (p.(Thr1366=)), FBN2(NM_001999.4):c.4098A>C (p.T1366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128334720T>G" "" "benign" "" "0000283100" "0" "30" "5" "127668620" "127668620" "subst" "0.00122288" "02329" "FBN2_000091" "g.127668620G>A" "" "" "" "FBN2(NM_001999.4):c.4206C>T (p.N1402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128332928G>A" "" "likely benign" "" "0000283101" "0" "10" "5" "127668592" "127668592" "subst" "0.00238058" "02329" "FBN2_000090" "g.127668592T>C" "" "" "" "FBN2(NM_001999.4):c.4222+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128332900T>C" "" "benign" "" "0000283102" "0" "30" "5" "127666299" "127666299" "subst" "6.50248E-5" "02329" "FBN2_000088" "g.127666299G>A" "" "" "" "FBN2(NM_001999.3):c.4311C>T (p.S1437=), FBN2(NM_001999.4):c.4311C>T (p.S1437=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128330607G>A" "" "likely benign" "" "0000283103" "0" "10" "5" "127653974" "127653974" "subst" "0.00194793" "02329" "FBN2_000083" "g.127653974C>G" "" "" "" "FBN2(NM_001999.4):c.4595-11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128318282C>G" "" "benign" "" "0000283104" "0" "30" "5" "127647083" "127647083" "subst" "0.000247865" "02329" "FBN2_000076" "g.127647083G>A" "" "" "" "FBN2(NM_001999.3):c.4983C>T (p.C1661=), FBN2(NM_001999.4):c.4983C>T (p.(Cys1661=), p.C1661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128311391G>A" "" "likely benign" "" "0000283105" "0" "30" "5" "127647062" "127647062" "subst" "1.21917E-5" "02329" "FBN2_000075" "g.127647062G>A" "" "" "" "FBN2(NM_001999.4):c.5004C>T (p.N1668=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128311370G>A" "" "likely benign" "" "0000283106" "0" "10" "5" "127644920" "127644920" "subst" "0.00188461" "02329" "FBN2_000072" "g.127644920G>A" "" "" "" "FBN2(NM_001999.4):c.5353+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128309228G>A" "" "benign" "" "0000283107" "0" "10" "5" "127641615" "127641615" "subst" "0.000821065" "02329" "FBN2_000071" "g.127641615T>C" "" "" "" "FBN2(NM_001999.3):c.5448A>G (p.P1816=), FBN2(NM_001999.4):c.5448A>G (p.P1816=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128305923T>C" "" "benign" "" "0000283108" "0" "30" "5" "127641196" "127641196" "subst" "0.000422596" "02329" "FBN2_000067" "g.127641196T>C" "" "" "" "FBN2(NM_001999.3):c.5674+7A>G (p.(=)), FBN2(NM_001999.4):c.5674+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128305504T>C" "" "likely benign" "" "0000283109" "0" "10" "5" "127640783" "127640783" "subst" "0.708846" "02329" "FBN2_000064" "g.127640783G>A" "" "" "" "FBN2(NM_001999.3):c.5675-10_5675-9delTCinsTT, FBN2(NM_001999.4):c.5675-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128305091G>A" "" "benign" "" "0000283110" "0" "10" "5" "127640783" "127640783" "del" "0.0148134" "02329" "FBN2_000065" "g.127640783del" "" "" "" "FBN2(NM_001999.4):c.5675-9del, FBN2(NM_001999.4):c.5675-9delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128305091del" "" "benign" "" "0000283111" "0" "30" "5" "127636618" "127636618" "subst" "3.25288E-5" "02329" "FBN2_000057" "g.127636618C>T" "" "" "" "FBN2(NM_001999.3):c.6057G>A (p.E2019=), FBN2(NM_001999.4):c.6057G>A (p.E2019=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128300926C>T" "" "likely benign" "" "0000283112" "0" "10" "5" "127627209" "127627209" "subst" "0.0105294" "02329" "FBN2_000054" "g.127627209G>T" "" "" "" "FBN2(NM_001999.4):c.6292+12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128291517G>T" "" "benign" "" "0000283113" "0" "10" "5" "127625559" "127625559" "subst" "0.179336" "02329" "FBN2_000050" "g.127625559T>C" "" "" "" "FBN2(NM_001999.4):c.6511+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128289867T>C" "" "benign" "" "0000283114" "0" "10" "5" "127624961" "127624961" "subst" "0.00114257" "02329" "FBN2_000049" "g.127624961C>G" "" "" "" "FBN2(NM_001999.4):c.6512-17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128289269C>G" "" "benign" "" "0000283115" "0" "10" "5" "127624841" "127624841" "subst" "0.00113484" "02329" "FBN2_000047" "g.127624841G>A" "" "" "" "FBN2(NM_001999.3):c.6615C>T (p.(Asp2205=)), FBN2(NM_001999.4):c.6615C>T (p.D2205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128289149G>A" "" "benign" "" "0000283116" "0" "10" "5" "127622983" "127622983" "subst" "0.526184" "02329" "FBN2_000042" "g.127622983C>T" "" "" "" "FBN2(NM_001999.4):c.6880+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128287291C>T" "" "benign" "" "0000283117" "0" "10" "5" "127622491" "127622491" "subst" "0.109629" "02329" "FBN2_000040" "g.127622491T>C" "" "" "" "FBN2(NM_001999.4):c.6931A>G (p.M2311V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128286799T>C" "" "benign" "" "0000283118" "0" "30" "5" "127613663" "127613663" "subst" "0.000886273" "02329" "FBN2_000033" "g.127613663G>A" "" "" "" "FBN2(NM_001999.3):c.7380C>T (p.C2460=), FBN2(NM_001999.4):c.7380C>T (p.C2460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128277971G>A" "" "likely benign" "" "0000283119" "0" "30" "5" "127613566" "127613566" "subst" "0.0004189" "02329" "FBN2_000032" "g.127613566C>T" "" "" "" "FBN2(NM_001999.3):c.7471+6G>A, FBN2(NM_001999.4):c.7471+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128277874C>T" "" "likely benign" "" "0000283120" "0" "30" "5" "127611749" "127611749" "subst" "0" "02329" "FBN2_000031" "g.127611749C>T" "" "" "" "FBN2(NM_001999.4):c.7575G>A (p.E2525=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128276057C>T" "" "likely benign" "" "0000283121" "0" "10" "5" "127610320" "127610320" "subst" "0.000675011" "02329" "FBN2_000027" "g.127610320G>C" "" "" "" "FBN2(NM_001999.3):c.7650C>G (p.T2550=), FBN2(NM_001999.4):c.7650C>G (p.T2550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128274628G>C" "" "benign" "" "0000283122" "0" "10" "5" "127609633" "127609633" "subst" "0.0739351" "02329" "FBN2_000025" "g.127609633G>A" "" "" "" "FBN2(NM_001999.3):c.7739C>T (p.S2580L), FBN2(NM_001999.4):c.7739C>T (p.S2580L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128273941G>A" "" "benign" "" "0000283123" "0" "10" "5" "127597488" "127597488" "subst" "0.000793012" "02329" "FBN2_000014" "g.127597488G>A" "" "" "" "FBN2(NM_001999.3):c.8304C>T (p.N2768=), FBN2(NM_001999.4):c.8304C>T (p.N2768=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128261796G>A" "" "benign" "" "0000283124" "0" "30" "5" "127597445" "127597445" "subst" "0.00128915" "02329" "FBN2_000013" "g.127597445C>G" "" "" "" "FBN2(NM_001999.3):c.8347G>C (p.(Glu2783Gln)), FBN2(NM_001999.4):c.8347G>C (p.E2783Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128261753C>G" "" "likely benign" "" "0000283125" "0" "10" "5" "127597421" "127597421" "subst" "0.00106968" "02329" "FBN2_000011" "g.127597421T>A" "" "" "" "FBN2(NM_001999.3):c.8364+7A>T (p.(=)), FBN2(NM_001999.4):c.8364+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128261729T>A" "" "benign" "" "0000283126" "0" "30" "5" "127595366" "127595366" "subst" "0.000182915" "02329" "FBN2_000007" "g.127595366G>A" "" "" "" "FBN2(NM_001999.3):c.8520C>T (p.N2840=), FBN2(NM_001999.4):c.8520C>T (p.N2840=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128259674G>A" "" "likely benign" "" "0000283127" "0" "10" "5" "127595153" "127595153" "subst" "0.00596584" "02329" "FBN2_000004" "g.127595153G>C" "" "" "" "FBN2(NM_001999.4):c.8733C>G (p.(Leu2911=), p.L2911=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128259461G>C" "" "benign" "" "0000283128" "0" "10" "5" "127744469" "127744469" "subst" "0.00670996" "02329" "FBN2_000130" "g.127744469G>A" "" "" "" "FBN2(NM_001999.3):c.976C>T (p.P326S, p.(Pro326Ser)), FBN2(NM_001999.4):c.976C>T (p.P326S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128408776G>A" "" "benign" "" "0000283872" "0" "10" "5" "127873186" "127873186" "subst" "0.0884726" "02326" "FBN2_000143" "g.127873186C>T" "" "" "" "FBN2(NM_001999.4):c.111G>A (p.P37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128537493C>T" "" "benign" "" "0000283873" "0" "10" "5" "127873094" "127873094" "subst" "0.0303035" "02326" "FBN2_000140" "g.127873094G>A" "" "" "" "FBN2(NM_001999.3):c.203C>T (p.(Ala68Val)), FBN2(NM_001999.4):c.203C>T (p.A68V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128537401G>A" "" "benign" "" "0000283874" "0" "30" "5" "127693094" "127693094" "subst" "0.00122766" "02326" "FBN2_000116" "g.127693094T>C" "" "" "" "FBN2(NM_001999.3):c.2555-7A>G, FBN2(NM_001999.4):c.2555-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128357402T>C" "" "likely benign" "" "0000283875" "0" "10" "5" "127681251" "127681251" "subst" "0.015815" "02326" "FBN2_000110" "g.127681251C>T" "" "" "" "FBN2(NM_001999.3):c.3015G>A (p.L1005=, p.(Leu1005=)), FBN2(NM_001999.4):c.3015G>A (p.L1005=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128345559C>T" "" "benign" "" "0000283876" "0" "10" "5" "127670810" "127670810" "subst" "0" "02326" "FBN2_000096" "g.127670810G>C" "" "" "" "FBN2(NM_001999.4):c.3973+52C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128335118G>C" "" "benign" "" "0000283877" "0" "10" "5" "127670603" "127670603" "subst" "0" "02326" "FBN2_000095" "g.127670603C>T" "" "" "" "FBN2(NM_001999.4):c.3974-67G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128334911C>T" "" "benign" "" "0000283878" "0" "70" "5" "127668690" "127668690" "subst" "0" "02326" "FBN2_000092" "g.127668690T>A" "" "" "" "FBN2(NM_001999.4):c.4136A>T (p.D1379V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128332998T>A" "" "likely pathogenic" "" "0000283879" "0" "30" "5" "127666298" "127666298" "subst" "0.00803423" "02326" "FBN2_000087" "g.127666298C>T" "" "" "" "FBN2(NM_001999.3):c.4312G>A (p.E1438K, p.(Glu1438Lys)), FBN2(NM_001999.4):c.4312G>A (p.E1438K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128330606C>T" "" "likely benign" "" "0000283880" "0" "10" "5" "127644920" "127644920" "subst" "0.00188461" "02326" "FBN2_000072" "g.127644920G>A" "" "" "" "FBN2(NM_001999.4):c.5353+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128309228G>A" "" "benign" "" "0000283881" "0" "10" "5" "127641567" "127641567" "subst" "0.00401577" "02326" "FBN2_000069" "g.127641567G>A" "" "" "" "FBN2(NM_001999.3):c.5496C>T (p.(Arg1832=)), FBN2(NM_001999.4):c.5496C>T (p.R1832=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128305875G>A" "" "benign" "" "0000283882" "0" "10" "5" "127641196" "127641196" "subst" "0.000422596" "02326" "FBN2_000067" "g.127641196T>C" "" "" "" "FBN2(NM_001999.3):c.5674+7A>G (p.(=)), FBN2(NM_001999.4):c.5674+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128305504T>C" "" "benign" "" "0000283883" "0" "10" "5" "127640783" "127640783" "subst" "0.708846" "02326" "FBN2_000064" "g.127640783G>A" "" "" "" "FBN2(NM_001999.3):c.5675-10_5675-9delTCinsTT, FBN2(NM_001999.4):c.5675-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128305091G>A" "" "benign" "" "0000283884" "0" "30" "5" "127627350" "127627350" "subst" "0.00014639" "02326" "FBN2_000055" "g.127627350C>A" "" "" "" "FBN2(NM_001999.4):c.6167-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128291658C>A" "" "likely benign" "" "0000283885" "0" "10" "5" "127627209" "127627209" "subst" "0.0105294" "02326" "FBN2_000054" "g.127627209G>T" "" "" "" "FBN2(NM_001999.4):c.6292+12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128291517G>T" "" "benign" "" "0000283886" "0" "30" "5" "127625569" "127625569" "subst" "0.00384307" "02326" "FBN2_000051" "g.127625569C>T" "" "" "" "FBN2(NM_001999.3):c.6511+5G>A (p.?), FBN2(NM_001999.4):c.6511+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128289877C>T" "" "likely benign" "" "0000283887" "0" "10" "5" "127624780" "127624780" "subst" "0.0279364" "02326" "FBN2_000046" "g.127624780T>C" "" "" "" "FBN2(NM_001999.4):c.6637+39A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128289088T>C" "" "benign" "" "0000283888" "0" "30" "5" "127622403" "127622403" "subst" "0.000398154" "02326" "FBN2_000037" "g.127622403C>T" "" "" "" "FBN2(NM_001999.3):c.7012+7G>A (p.(=)), FBN2(NM_001999.4):c.7012+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128286711C>T" "" "likely benign" "" "0000283889" "0" "10" "5" "127613663" "127613663" "subst" "0.000886273" "02326" "FBN2_000033" "g.127613663G>A" "" "" "" "FBN2(NM_001999.3):c.7380C>T (p.C2460=), FBN2(NM_001999.4):c.7380C>T (p.C2460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128277971G>A" "" "benign" "" "0000283890" "0" "10" "5" "127800505" "127800505" "subst" "0.00168204" "02326" "FBN2_000138" "g.127800505C>T" "" "" "" "FBN2(NM_001999.3):c.738G>A (p.A246=, p.(Ala246=)), FBN2(NM_001999.4):c.738G>A (p.A246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128464812C>T" "" "benign" "" "0000283891" "0" "50" "5" "127800432" "127800432" "subst" "1.22332E-5" "02326" "FBN2_000136" "g.127800432T>G" "" "" "" "FBN2(NM_001999.3):c.811A>C (p.T271P, p.(Thr271Pro)), FBN2(NM_001999.4):c.811A>C (p.T271P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128464739T>G" "" "VUS" "" "0000283892" "0" "30" "5" "127597535" "127597535" "subst" "0.00050011" "02326" "FBN2_000016" "g.127597535C>T" "" "" "" "FBN2(NM_001999.3):c.8257G>A (p.(Glu2753Lys)), FBN2(NM_001999.4):c.8257G>A (p.E2753K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128261843C>T" "" "likely benign" "" "0000283893" "0" "10" "5" "127597421" "127597421" "subst" "0.00106968" "02326" "FBN2_000011" "g.127597421T>A" "" "" "" "FBN2(NM_001999.3):c.8364+7A>T (p.(=)), FBN2(NM_001999.4):c.8364+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128261729T>A" "" "benign" "" "0000283894" "0" "30" "5" "127595349" "127595349" "subst" "0.000121938" "02326" "FBN2_000006" "g.127595349C>T" "" "" "" "FBN2(NM_001999.3):c.8537G>A (p.R2846H), FBN2(NM_001999.4):c.8537G>A (p.R2846H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128259657C>T" "" "likely benign" "" "0000283895" "0" "10" "5" "127782033" "127782033" "subst" "0" "02326" "FBN2_000134" "g.127782033T>G" "" "" "" "FBN2(NM_001999.4):c.952+141A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128446340T>G" "" "benign" "" "0000283896" "0" "10" "5" "127744469" "127744469" "subst" "0.00670996" "02326" "FBN2_000130" "g.127744469G>A" "" "" "" "FBN2(NM_001999.3):c.976C>T (p.P326S, p.(Pro326Ser)), FBN2(NM_001999.4):c.976C>T (p.P326S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128408776G>A" "" "benign" "" "0000287265" "0" "30" "5" "127744434" "127744434" "subst" "2.4416E-5" "01943" "FBN2_000129" "g.127744434G>A" "" "" "" "FBN2(NM_001999.3):c.1011C>T (p.T337=), FBN2(NM_001999.4):c.1011C>T (p.T337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128408741G>A" "" "likely benign" "" "0000287266" "0" "30" "5" "127873187" "127873187" "subst" "0.000236952" "01943" "FBN2_000144" "g.127873187G>T" "" "" "" "FBN2(NM_001999.3):c.110C>A (p.P37Q, p.(Pro37Gln)), FBN2(NM_001999.4):c.110C>A (p.P37Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128537494G>T" "" "likely benign" "" "0000287267" "0" "50" "5" "127873165" "127873165" "subst" "0.000152958" "01943" "FBN2_000142" "g.127873165C>G" "" "" "" "FBN2(NM_001999.3):c.132G>C (p.P44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128537472C>G" "" "VUS" "" "0000287268" "0" "50" "5" "127728858" "127728858" "subst" "0.000126068" "01943" "FBN2_000128" "g.127728858C>T" "" "" "" "FBN2(NM_001999.3):c.1435G>A (p.G479R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128393165C>T" "" "VUS" "" "0000287269" "0" "50" "5" "127728840" "127728840" "subst" "4.066E-6" "01943" "FBN2_000127" "g.127728840T>C" "" "" "" "FBN2(NM_001999.3):c.1453A>G (p.I485V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128393147T>C" "" "VUS" "" "0000287270" "0" "50" "5" "127727722" "127727722" "subst" "0.00137077" "01943" "FBN2_000125" "g.127727722C>G" "" "" "" "FBN2(NM_001999.3):c.1592G>C (p.G531A, p.(Gly531Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128392029C>G" "" "VUS" "" "0000287271" "0" "30" "5" "127712555" "127712555" "subst" "0.00021596" "01943" "FBN2_000123" "g.127712555G>A" "" "" "" "FBN2(NM_001999.3):c.1850-9C>T, FBN2(NM_001999.4):c.1850-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128376862G>A" "" "likely benign" "" "0000287272" "0" "30" "5" "127873102" "127873102" "subst" "2.12084E-5" "01943" "FBN2_000141" "g.127873102C>T" "" "" "" "FBN2(NM_001999.3):c.195G>A (p.E65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128537409C>T" "" "likely benign" "" "0000287273" "0" "30" "5" "127693094" "127693094" "subst" "0.00122766" "01943" "FBN2_000116" "g.127693094T>C" "" "" "" "FBN2(NM_001999.3):c.2555-7A>G, FBN2(NM_001999.4):c.2555-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128357402T>C" "" "likely benign" "" "0000287274" "0" "30" "5" "127693095" "127693095" "subst" "0" "01943" "FBN2_000117" "g.127693095C>A" "" "" "" "FBN2(NM_001999.3):c.2555-8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128357403C>A" "" "likely benign" "" "0000287275" "0" "10" "5" "127685135" "127685135" "subst" "0.727969" "01943" "FBN2_000112" "g.127685135C>T" "" "" "" "FBN2(NM_001999.3):c.2893G>A (p.V965I), FBN2(NM_001999.4):c.2893G>A (p.V965I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128349443C>T" "" "benign" "" "0000287276" "0" "30" "5" "127685088" "127685088" "subst" "0.000836752" "01943" "FBN2_000111" "g.127685088G>A" "" "" "" "FBN2(NM_001999.3):c.2940C>T (p.C980=), FBN2(NM_001999.4):c.2940C>T (p.C980=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128349396G>A" "" "likely benign" "" "0000287277" "0" "30" "5" "127681230" "127681230" "subst" "0" "01943" "FBN2_000109" "g.127681230G>A" "" "" "" "FBN2(NM_001999.3):c.3036C>T (p.C1012=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128345538G>A" "" "likely benign" "" "0000287278" "0" "30" "5" "127680185" "127680185" "subst" "0.000138128" "01943" "FBN2_000108" "g.127680185C>A" "" "" "" "FBN2(NM_001999.3):c.3235G>T (p.A1079S, p.(Ala1079Ser)), FBN2(NM_001999.4):c.3235G>T (p.A1079S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128344493C>A" "" "likely benign" "" "0000287279" "0" "50" "5" "127680184" "127680184" "subst" "0" "01943" "FBN2_000107" "g.127680184G>A" "" "" "" "FBN2(NM_001999.3):c.3236C>T (p.A1079V), FBN2(NM_001999.4):c.3236C>T (p.A1079V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128344492G>A" "" "VUS" "" "0000287280" "0" "50" "5" "127680130" "127680130" "subst" "1.21858E-5" "01943" "FBN2_000104" "g.127680130T>G" "" "" "" "FBN2(NM_001999.3):c.3290A>C (p.K1097T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128344438T>G" "" "VUS" "" "0000287281" "0" "50" "5" "127680124" "127680124" "subst" "9.74849E-5" "01943" "FBN2_000103" "g.127680124C>T" "" "" "" "FBN2(NM_001999.3):c.3296G>A (p.R1099H, p.(Arg1099His)), FBN2(NM_001999.4):c.3296G>A (p.R1099H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128344432C>T" "" "VUS" "" "0000287282" "0" "50" "5" "127671743" "127671743" "subst" "0" "01943" "FBN2_000100" "g.127671743C>T" "" "" "" "FBN2(NM_001999.3):c.3661G>A (p.G1221R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128336051C>T" "" "VUS" "" "0000287283" "0" "30" "5" "127670517" "127670517" "subst" "1.21909E-5" "01943" "FBN2_000094" "g.127670517T>C" "" "" "" "FBN2(NM_001999.3):c.3993A>G (p.L1331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128334825T>C" "" "likely benign" "" "0000287284" "0" "10" "5" "127666298" "127666298" "subst" "0.00803423" "01943" "FBN2_000087" "g.127666298C>T" "" "" "" "FBN2(NM_001999.3):c.4312G>A (p.E1438K, p.(Glu1438Lys)), FBN2(NM_001999.4):c.4312G>A (p.E1438K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128330606C>T" "" "benign" "" "0000287285" "0" "50" "5" "127653916" "127653916" "subst" "0.0001951" "01943" "FBN2_000082" "g.127653916C>T" "" "" "" "FBN2(NM_001999.3):c.4642G>A (p.V1548I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128318224C>T" "" "VUS" "" "0000287286" "0" "30" "5" "127653911" "127653911" "subst" "0.000841347" "01943" "FBN2_000081" "g.127653911G>A" "" "" "" "FBN2(NM_001999.3):c.4647C>T (p.N1549=), FBN2(NM_001999.4):c.4647C>T (p.N1549=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128318219G>A" "" "likely benign" "" "0000287287" "0" "30" "5" "127648420" "127648420" "subst" "3.25412E-5" "01943" "FBN2_000078" "g.127648420G>A" "" "" "" "FBN2(NM_001999.3):c.4785C>T (p.T1595=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128312728G>A" "" "likely benign" "" "0000287288" "0" "30" "5" "127648414" "127648414" "subst" "0.000671054" "01943" "FBN2_000077" "g.127648414G>A" "" "" "" "FBN2(NM_001999.3):c.4791C>T (p.I1597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128312722G>A" "" "likely benign" "" "0000287289" "0" "30" "5" "127647083" "127647083" "subst" "0.000247865" "01943" "FBN2_000076" "g.127647083G>A" "" "" "" "FBN2(NM_001999.3):c.4983C>T (p.C1661=), FBN2(NM_001999.4):c.4983C>T (p.(Cys1661=), p.C1661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128311391G>A" "" "likely benign" "" "0000287290" "0" "50" "5" "127645025" "127645025" "subst" "1.21997E-5" "01943" "FBN2_000074" "g.127645025T>C" "" "" "" "FBN2(NM_001999.3):c.5267A>G (p.N1756S), FBN2(NM_001999.4):c.5267A>G (p.(Asn1756Ser), p.N1756S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128309333T>C" "" "VUS" "" "0000287291" "0" "50" "5" "127645017" "127645017" "subst" "5.69277E-5" "01943" "FBN2_000073" "g.127645017T>G" "" "" "" "FBN2(NM_001999.3):c.5275A>C (p.K1759Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128309325T>G" "" "VUS" "" "0000287292" "0" "30" "5" "127641615" "127641615" "subst" "0.000821065" "01943" "FBN2_000071" "g.127641615T>C" "" "" "" "FBN2(NM_001999.3):c.5448A>G (p.P1816=), FBN2(NM_001999.4):c.5448A>G (p.P1816=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128305923T>C" "" "likely benign" "" "0000287293" "0" "50" "5" "127641590" "127641590" "subst" "0" "01943" "FBN2_000070" "g.127641590T>C" "" "" "" "FBN2(NM_001999.3):c.5473A>G (p.I1825V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128305898T>C" "" "VUS" "" "0000287294" "0" "50" "5" "127641563" "127641563" "subst" "1.21921E-5" "01943" "FBN2_000068" "g.127641563C>T" "" "" "" "FBN2(NM_001999.3):c.5500G>A (p.E1834K, p.(Glu1834Lys)), FBN2(NM_001999.4):c.5500G>A (p.E1834K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128305871C>T" "" "VUS" "" "0000287295" "0" "10" "5" "127640783" "127640783" "subst" "0.708846" "01943" "FBN2_000064" "g.127640783G>A" "" "" "" "FBN2(NM_001999.3):c.5675-10_5675-9delTCinsTT, FBN2(NM_001999.4):c.5675-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128305091G>A" "" "benign" "" "0000287296" "0" "30" "5" "127640662" "127640662" "subst" "1.62711E-5" "01943" "FBN2_000063" "g.127640662C>T" "" "" "" "FBN2(NM_001999.3):c.5787G>A (p.Q1929=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128304970C>T" "" "likely benign" "" "0000287297" "0" "30" "5" "127640639" "127640639" "subst" "4.06666E-6" "01943" "FBN2_000062" "g.127640639C>T" "" "" "" "FBN2(NM_001999.3):c.5800+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128304947C>T" "" "likely benign" "" "0000287298" "0" "50" "5" "127637115" "127637115" "subst" "0" "01943" "FBN2_000058" "g.127637115T>C" "" "" "" "FBN2(NM_001999.3):c.6005A>G (p.N2002S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128301423T>C" "" "VUS" "" "0000287299" "0" "50" "5" "127626520" "127626520" "subst" "0" "01943" "FBN2_000053" "g.127626520T>C" "" "" "" "FBN2(NM_001999.3):c.6349A>G (p.K2117E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128290828T>C" "" "VUS" "" "0000287300" "0" "50" "5" "127626516" "127626516" "subst" "0" "01943" "FBN2_000052" "g.127626516G>A" "" "" "" "FBN2(NM_001999.3):c.6353C>T (p.A2118V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128290824G>A" "" "VUS" "" "0000287301" "0" "50" "5" "127624930" "127624930" "subst" "0" "01943" "FBN2_000048" "g.127624930G>A" "" "" "" "FBN2(NM_001999.3):c.6526C>T (p.L2176F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128289238G>A" "" "VUS" "" "0000287302" "0" "30" "5" "127624221" "127624221" "subst" "0.000504254" "01943" "FBN2_000045" "g.127624221C>T" "" "" "" "FBN2(NM_001999.3):c.6666G>A (p.P2222=), FBN2(NM_001999.4):c.6666G>A (p.P2222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128288529C>T" "" "likely benign" "" "0000287303" "0" "30" "5" "127623039" "127623039" "subst" "0.000451128" "01943" "FBN2_000044" "g.127623039T>A" "" "" "" "FBN2(NM_001999.3):c.6841A>T (p.I2281F), FBN2(NM_001999.4):c.6841A>T (p.I2281F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128287347T>A" "" "likely benign" "" "0000287304" "0" "70" "5" "127623023" "127623023" "subst" "0" "01943" "FBN2_000043" "g.127623023C>T" "" "" "" "FBN2(NM_001999.3):c.6857G>A (p.R2286K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128287331C>T" "" "likely pathogenic" "" "0000287305" "0" "50" "5" "127622476" "127622476" "subst" "0.000207233" "01943" "FBN2_000039" "g.127622476T>A" "" "" "" "FBN2(NM_001999.3):c.6946A>T (p.I2316F), FBN2(NM_001999.4):c.6946A>T (p.I2316F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128286784T>A" "" "VUS" "" "0000287306" "0" "30" "5" "127622403" "127622403" "subst" "0.000398154" "01943" "FBN2_000037" "g.127622403C>T" "" "" "" "FBN2(NM_001999.3):c.7012+7G>A (p.(=)), FBN2(NM_001999.4):c.7012+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128286711C>T" "" "likely benign" "" "0000287307" "0" "30" "5" "127800505" "127800505" "subst" "0.00168204" "01943" "FBN2_000138" "g.127800505C>T" "" "" "" "FBN2(NM_001999.3):c.738G>A (p.A246=, p.(Ala246=)), FBN2(NM_001999.4):c.738G>A (p.A246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128464812C>T" "" "likely benign" "" "0000287308" "0" "50" "5" "127800487" "127800487" "subst" "4.06359E-6" "01943" "FBN2_000137" "g.127800487C>A" "" "" "" "FBN2(NM_001999.3):c.756G>T (p.E252D), FBN2(NM_001999.4):c.756G>T (p.(Glu252Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128464794C>A" "" "VUS" "" "0000287309" "0" "30" "5" "127610383" "127610383" "subst" "0" "01943" "FBN2_000029" "g.127610383T>C" "" "" "" "FBN2(NM_001999.3):c.7595-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128274691T>C" "" "likely benign" "" "0000287310" "0" "30" "5" "127610332" "127610332" "subst" "0" "01943" "FBN2_000028" "g.127610332G>C" "" "" "" "FBN2(NM_001999.3):c.7638C>G (p.L2546=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128274640G>C" "" "likely benign" "" "0000287311" "0" "10" "5" "127609633" "127609633" "subst" "0.0739351" "01943" "FBN2_000025" "g.127609633G>A" "" "" "" "FBN2(NM_001999.3):c.7739C>T (p.S2580L), FBN2(NM_001999.4):c.7739C>T (p.S2580L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128273941G>A" "" "benign" "" "0000287312" "0" "50" "5" "127607813" "127607813" "subst" "0" "01943" "FBN2_000024" "g.127607813G>A" "" "" "" "FBN2(NM_001999.3):c.7841-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128272121G>A" "" "VUS" "" "0000287313" "0" "50" "5" "127607774" "127607774" "subst" "0" "01943" "FBN2_000023" "g.127607774T>C" "" "" "" "FBN2(NM_001999.3):c.7877A>G (p.H2626R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128272082T>C" "" "VUS" "" "0000287314" "0" "30" "5" "127599260" "127599260" "subst" "0.00127235" "01943" "FBN2_000022" "g.127599260C>T" "" "" "" "FBN2(NM_001999.3):c.8049G>A (p.G2683=), FBN2(NM_001999.4):c.8049G>A (p.G2683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128263568C>T" "" "likely benign" "" "0000287315" "0" "50" "5" "127599227" "127599227" "subst" "0.000365776" "01943" "FBN2_000021" "g.127599227G>T" "" "" "" "FBN2(NM_001999.3):c.8082C>A (p.H2694Q), FBN2(NM_001999.4):c.8082C>A (p.(His2694Gln), p.H2694Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128263535G>T" "" "VUS" "" "0000287316" "0" "30" "5" "127599209" "127599209" "subst" "4.06464E-5" "01943" "FBN2_000020" "g.127599209C>T" "" "" "" "FBN2(NM_001999.3):c.8100G>A (p.S2700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128263517C>T" "" "likely benign" "" "0000287317" "0" "50" "5" "127599166" "127599166" "subst" "0" "01943" "FBN2_000019" "g.127599166C>G" "" "" "" "FBN2(NM_001999.3):c.8143G>C (p.G2715R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128263474C>G" "" "VUS" "" "0000287318" "0" "10" "5" "127599155" "127599155" "subst" "0.00146447" "01943" "FBN2_000018" "g.127599155G>A" "" "" "" "FBN2(NM_001999.3):c.8154C>T (p.L2718=), FBN2(NM_001999.4):c.8154C>T (p.L2718=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128263463G>A" "" "benign" "" "0000287319" "0" "30" "5" "127597510" "127597510" "subst" "0.000211459" "01943" "FBN2_000015" "g.127597510G>A" "" "" "" "FBN2(NM_001999.3):c.8282C>T (p.A2761V), FBN2(NM_001999.4):c.8282C>T (p.A2761V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128261818G>A" "" "likely benign" "" "0000287320" "0" "30" "5" "127597488" "127597488" "subst" "0.000793012" "01943" "FBN2_000014" "g.127597488G>A" "" "" "" "FBN2(NM_001999.3):c.8304C>T (p.N2768=), FBN2(NM_001999.4):c.8304C>T (p.N2768=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128261796G>A" "" "likely benign" "" "0000287321" "0" "10" "5" "127597441" "127597441" "subst" "0.005604" "01943" "FBN2_000012" "g.127597441G>A" "" "" "" "FBN2(NM_001999.3):c.8351C>T (p.P2784L, p.(Pro2784Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128261749G>A" "" "benign" "" "0000287322" "0" "30" "5" "127597421" "127597421" "subst" "0.00106968" "01943" "FBN2_000011" "g.127597421T>A" "" "" "" "FBN2(NM_001999.3):c.8364+7A>T (p.(=)), FBN2(NM_001999.4):c.8364+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128261729T>A" "" "likely benign" "" "0000287323" "0" "30" "5" "127595510" "127595510" "subst" "0.000130227" "01943" "FBN2_000010" "g.127595510G>C" "" "" "" "FBN2(NM_001999.3):c.8376C>G (p.I2792M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128259818G>C" "" "likely benign" "" "0000287324" "0" "30" "5" "127595417" "127595417" "subst" "2.44059E-5" "01943" "FBN2_000008" "g.127595417G>A" "" "" "" "FBN2(NM_001999.3):c.8469C>T (p.P2823=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128259725G>A" "" "likely benign" "" "0000287325" "0" "50" "5" "127595290" "127595290" "subst" "6.09607E-5" "01943" "FBN2_000005" "g.127595290C>T" "" "" "" "FBN2(NM_001999.3):c.8596G>A (p.G2866S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128259598C>T" "" "VUS" "" "0000287326" "0" "50" "5" "127782242" "127782242" "subst" "0" "01943" "FBN2_000135" "g.127782242G>A" "" "" "" "FBN2(NM_001999.3):c.884C>T (p.T295I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128446549G>A" "" "VUS" "" "0000287327" "0" "30" "5" "127744469" "127744469" "subst" "0.00670996" "01943" "FBN2_000130" "g.127744469G>A" "" "" "" "FBN2(NM_001999.3):c.976C>T (p.P326S, p.(Pro326Ser)), FBN2(NM_001999.4):c.976C>T (p.P326S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128408776G>A" "" "likely benign" "" "0000330502" "0" "30" "5" "127622440" "127622440" "subst" "5.68787E-5" "01804" "FBN2_000038" "g.127622440C>A" "" "" "" "FBN2(NM_001999.3):c.6982G>T (p.(Ala2328Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128286748C>A" "" "likely benign" "" "0000330503" "0" "30" "5" "127622545" "127622545" "subst" "0" "01804" "FBN2_000041" "g.127622545G>C" "" "" "" "FBN2(NM_001999.3):c.6881-4C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128286853G>C" "" "likely benign" "" "0000330504" "0" "30" "5" "127636501" "127636501" "subst" "4.06227E-6" "01804" "FBN2_000056" "g.127636501A>G" "" "" "" "FBN2(NM_001999.3):c.6166+8T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128300809A>G" "" "likely benign" "" "0000330505" "0" "50" "5" "127653907" "127653907" "subst" "0" "01804" "FBN2_000080" "g.127653907G>C" "" "" "" "FBN2(NM_001999.3):c.4651C>G (p.(Pro1551Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128318215G>C" "" "VUS" "" "0000330506" "0" "30" "5" "127666298" "127666298" "subst" "0.00803423" "01804" "FBN2_000087" "g.127666298C>T" "" "" "" "FBN2(NM_001999.3):c.4312G>A (p.E1438K, p.(Glu1438Lys)), FBN2(NM_001999.4):c.4312G>A (p.E1438K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128330606C>T" "" "likely benign" "" "0000330508" "0" "30" "5" "127668685" "127668685" "subst" "0.00369856" "01804" "FBN2_000001" "g.127668685G>T" "" "" "" "FBN2(NM_001999.3):c.4141C>A (p.H1381N, p.(His1381Asn)), FBN2(NM_001999.4):c.4141C>A (p.H1381N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128332993G>T" "" "likely benign" "" "0000330509" "0" "30" "5" "127670412" "127670412" "subst" "0.00515585" "01804" "FBN2_000093" "g.127670412T>G" "" "" "" "FBN2(NM_001999.3):c.4098A>C (p.(Thr1366=)), FBN2(NM_001999.4):c.4098A>C (p.T1366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128334720T>G" "" "likely benign" "" "0000330512" "0" "30" "5" "127702112" "127702112" "subst" "0.00157438" "01804" "FBN2_000120" "g.127702112C>T" "" "" "" "FBN2(NM_001999.3):c.2260G>A (p.G754S, p.(Gly754Ser)), FBN2(NM_001999.4):c.2260G>A (p.G754S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128366419C>T" "" "likely benign" "" "0000330513" "0" "50" "5" "127713525" "127713525" "subst" "0" "01804" "FBN2_000124" "g.127713525C>T" "" "" "" "FBN2(NM_001999.3):c.1769G>A (p.(Arg590Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128377832C>T" "" "VUS" "" "0000346747" "0" "50" "5" "127727830" "127727830" "subst" "0" "02327" "FBN2_000145" "g.127727830A>G" "" "" "" "FBN2(NM_001999.4):c.1484T>C (p.I495T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128392137A>G" "" "VUS" "" "0000358054" "0" "70" "5" "127637158" "127637158" "subst" "0" "01807" "FBN2_000146" "g.127637158C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.128301466C>A" "" "likely pathogenic" "" "0000459776" "3" "90" "5" "127744381" "127744381" "subst" "0" "00006" "FBN2_000147" "g.127744381C>T" "" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.128408688C>T" "" "pathogenic (recessive)" "" "0000498178" "11" "70" "5" "127653963" "127653963" "subst" "4.0657E-6" "02284" "FBN2_000148" "g.127653963T>C" "" "" "" "" "" "Germline" "yes" "rs757990365" "0" "" "" "g.128318271T>C" "" "likely pathogenic" "ACMG" "0000523985" "0" "30" "5" "127595366" "127595366" "subst" "0.000182915" "01943" "FBN2_000007" "g.127595366G>A" "" "" "" "FBN2(NM_001999.3):c.8520C>T (p.N2840=), FBN2(NM_001999.4):c.8520C>T (p.N2840=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128259674G>A" "" "likely benign" "" "0000523986" "0" "30" "5" "127597441" "127597441" "subst" "0.005604" "01804" "FBN2_000012" "g.127597441G>A" "" "" "" "FBN2(NM_001999.3):c.8351C>T (p.P2784L, p.(Pro2784Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128261749G>A" "" "likely benign" "" "0000523987" "0" "30" "5" "127597445" "127597445" "subst" "0.00128915" "01804" "FBN2_000013" "g.127597445C>G" "" "" "" "FBN2(NM_001999.3):c.8347G>C (p.(Glu2783Gln)), FBN2(NM_001999.4):c.8347G>C (p.E2783Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128261753C>G" "" "likely benign" "" "0000523988" "0" "10" "5" "127597518" "127597518" "subst" "0.102047" "01943" "FBN2_000149" "g.127597518G>A" "" "" "" "FBN2(NM_001999.3):c.8274C>T (p.S2758=), FBN2(NM_001999.4):c.8274C>T (p.S2758=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128261826G>A" "" "benign" "" "0000523989" "0" "10" "5" "127597518" "127597518" "subst" "0.102047" "02329" "FBN2_000149" "g.127597518G>A" "" "" "" "FBN2(NM_001999.3):c.8274C>T (p.S2758=), FBN2(NM_001999.4):c.8274C>T (p.S2758=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128261826G>A" "" "benign" "" "0000523990" "0" "30" "5" "127597535" "127597535" "subst" "0.00050011" "01804" "FBN2_000016" "g.127597535C>T" "" "" "" "FBN2(NM_001999.3):c.8257G>A (p.(Glu2753Lys)), FBN2(NM_001999.4):c.8257G>A (p.E2753K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128261843C>T" "" "likely benign" "" "0000523991" "0" "30" "5" "127599260" "127599260" "subst" "0.00127235" "02329" "FBN2_000022" "g.127599260C>T" "" "" "" "FBN2(NM_001999.3):c.8049G>A (p.G2683=), FBN2(NM_001999.4):c.8049G>A (p.G2683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128263568C>T" "" "likely benign" "" "0000523992" "0" "50" "5" "127607688" "127607688" "subst" "0" "02326" "FBN2_000150" "g.127607688C>A" "" "" "" "FBN2(NM_001999.4):c.7960+3G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128271996C>A" "" "VUS" "" "0000523993" "0" "50" "5" "127607792" "127607792" "subst" "2.03188E-5" "02325" "FBN2_000151" "g.127607792C>T" "" "" "" "FBN2(NM_001999.3):c.7859G>A (p.G2620E), FBN2(NM_001999.4):c.7859G>A (p.(Gly2620Glu), p.G2620E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128272100C>T" "" "VUS" "" "0000523994" "0" "50" "5" "127609645" "127609645" "subst" "0" "01943" "FBN2_000152" "g.127609645C>A" "" "" "" "FBN2(NM_001999.3):c.7727G>T (p.G2576V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128273953C>A" "" "VUS" "" "0000523995" "0" "50" "5" "127609649" "127609649" "subst" "0" "02329" "FBN2_000153" "g.127609649A>G" "" "" "" "FBN2(NM_001999.4):c.7723T>C (p.C2575R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128273957A>G" "" "VUS" "" "0000523996" "0" "50" "5" "127610280" "127610280" "subst" "0.000333352" "01943" "FBN2_000154" "g.127610280G>C" "" "" "" "FBN2(NM_001999.3):c.7690C>G (p.Q2564E, p.(Gln2564Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128274588G>C" "" "VUS" "" "0000523997" "0" "50" "5" "127610294" "127610294" "subst" "8.1316E-6" "01943" "FBN2_000155" "g.127610294G>A" "" "" "" "FBN2(NM_001999.3):c.7676C>T (p.P2559L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128274602G>A" "" "VUS" "" "0000523998" "0" "30" "5" "127611731" "127611731" "subst" "0.00039877" "01943" "FBN2_000156" "g.127611731T>C" "" "" "" "FBN2(NM_001999.3):c.7593A>G (p.K2531=, p.(=)), FBN2(NM_001999.4):c.7593A>G (p.K2531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128276039T>C" "" "likely benign" "" "0000523999" "0" "70" "5" "127611797" "127611798" "del" "0" "02329" "FBN2_000157" "g.127611797_127611798del" "" "" "" "FBN2(NM_001999.4):c.7526_7527delCT (p.T2509Rfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128276105_128276106del" "" "likely pathogenic" "" "0000524000" "0" "30" "5" "127613625" "127613625" "subst" "0.000426996" "01804" "FBN2_000158" "g.127613625C>A" "" "" "" "FBN2(NM_001999.3):c.7418G>T (p.(Arg2473Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128277933C>A" "" "likely benign" "" "0000524002" "0" "30" "5" "127613658" "127613658" "subst" "0.000113829" "01804" "FBN2_000160" "g.127613658T>C" "" "" "" "FBN2(NM_001999.3):c.7385A>G (p.(Asn2462Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128277966T>C" "" "likely benign" "" "0000524003" "0" "10" "5" "127614376" "127614376" "subst" "0.00219985" "01943" "FBN2_000002" "g.127614376C>A" "" "" "" "FBN2(NM_001999.3):c.7296G>T (p.Q2432H, p.(Gln2432His)), FBN2(NM_001999.4):c.7296G>T (p.Q2432H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128278684C>A" "" "benign" "" "0000524004" "0" "50" "5" "127614491" "127614491" "subst" "0.00231208" "01943" "FBN2_000161" "g.127614491A>G" "" "" "" "FBN2(NM_001999.3):c.7181T>C (p.I2394T, p.(Ile2394Thr)), FBN2(NM_001999.4):c.7181T>C (p.I2394T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128278799A>G" "" "VUS" "" "0000524005" "0" "30" "5" "127614491" "127614491" "subst" "0.00231208" "01804" "FBN2_000161" "g.127614491A>G" "" "" "" "FBN2(NM_001999.3):c.7181T>C (p.I2394T, p.(Ile2394Thr)), FBN2(NM_001999.4):c.7181T>C (p.I2394T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128278799A>G" "" "likely benign" "" "0000524006" "0" "30" "5" "127614491" "127614491" "subst" "0.00231208" "02326" "FBN2_000161" "g.127614491A>G" "" "" "" "FBN2(NM_001999.3):c.7181T>C (p.I2394T, p.(Ile2394Thr)), FBN2(NM_001999.4):c.7181T>C (p.I2394T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128278799A>G" "" "likely benign" "" "0000524007" "0" "30" "5" "127614491" "127614491" "subst" "0.00231208" "02329" "FBN2_000161" "g.127614491A>G" "" "" "" "FBN2(NM_001999.3):c.7181T>C (p.I2394T, p.(Ile2394Thr)), FBN2(NM_001999.4):c.7181T>C (p.I2394T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128278799A>G" "" "likely benign" "" "0000524008" "0" "30" "5" "127622403" "127622403" "subst" "0.000398154" "02329" "FBN2_000037" "g.127622403C>T" "" "" "" "FBN2(NM_001999.3):c.7012+7G>A (p.(=)), FBN2(NM_001999.4):c.7012+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128286711C>T" "" "likely benign" "" "0000524009" "0" "10" "5" "127622474" "127622474" "subst" "0.0182338" "02326" "FBN2_000162" "g.127622474G>T" "" "" "" "FBN2(NM_001999.3):c.6948C>A (p.(=)), FBN2(NM_001999.4):c.6948C>A (p.I2316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128286782G>T" "" "benign" "" "0000524010" "0" "10" "5" "127622474" "127622474" "subst" "0.0182338" "02329" "FBN2_000162" "g.127622474G>T" "" "" "" "FBN2(NM_001999.3):c.6948C>A (p.(=)), FBN2(NM_001999.4):c.6948C>A (p.I2316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128286782G>T" "" "benign" "" "0000524011" "0" "30" "5" "127623039" "127623039" "subst" "0.000451128" "02326" "FBN2_000044" "g.127623039T>A" "" "" "" "FBN2(NM_001999.3):c.6841A>T (p.I2281F), FBN2(NM_001999.4):c.6841A>T (p.I2281F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128287347T>A" "" "likely benign" "" "0000524012" "0" "50" "5" "127623047" "127623047" "subst" "0.00010568" "02329" "FBN2_000163" "g.127623047G>A" "" "" "" "FBN2(NM_001999.4):c.6833C>T (p.T2278M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128287355G>A" "" "VUS" "" "0000524013" "0" "50" "5" "127623116" "127623116" "subst" "0" "02329" "FBN2_000164" "g.127623116T>C" "" "" "" "FBN2(NM_001999.4):c.6764A>G (p.N2255S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128287424T>C" "" "VUS" "" "0000524014" "0" "50" "5" "127624205" "127624205" "subst" "0" "02327" "FBN2_000165" "g.127624205A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128288513A>G" "" "VUS" "" "0000524015" "0" "30" "5" "127624221" "127624221" "subst" "0.000504254" "02326" "FBN2_000045" "g.127624221C>T" "" "" "" "FBN2(NM_001999.3):c.6666G>A (p.P2222=), FBN2(NM_001999.4):c.6666G>A (p.P2222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128288529C>T" "" "likely benign" "" "0000524016" "0" "30" "5" "127624232" "127624232" "subst" "0.000292833" "01804" "FBN2_000166" "g.127624232T>C" "" "" "" "FBN2(NM_001999.3):c.6655A>G (p.I2219V, p.(Ile2219Val)), FBN2(NM_001999.4):c.6655A>G (p.I2219V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128288540T>C" "" "likely benign" "" "0000524017" "0" "30" "5" "127625569" "127625569" "subst" "0.00384307" "01804" "FBN2_000051" "g.127625569C>T" "" "" "" "FBN2(NM_001999.3):c.6511+5G>A (p.?), FBN2(NM_001999.4):c.6511+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128289877C>T" "" "likely benign" "" "0000524018" "0" "30" "5" "127636618" "127636618" "subst" "3.25288E-5" "01943" "FBN2_000057" "g.127636618C>T" "" "" "" "FBN2(NM_001999.3):c.6057G>A (p.E2019=), FBN2(NM_001999.4):c.6057G>A (p.E2019=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128300926C>T" "" "likely benign" "" "0000524019" "0" "50" "5" "127636620" "127636620" "subst" "0" "02329" "FBN2_000167" "g.127636620C>T" "" "" "" "FBN2(NM_001999.4):c.6055G>A (p.E2019K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128300928C>T" "" "VUS" "" "0000524020" "0" "10" "5" "127637120" "127637120" "subst" "0.00119503" "02329" "FBN2_000168" "g.127637120T>C" "" "" "" "FBN2(NM_001999.4):c.6000A>G (p.L2000=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128301428T>C" "" "benign" "" "0000524021" "0" "50" "5" "127637154" "127637154" "subst" "4.06739E-6" "02327" "FBN2_000169" "g.127637154C>T" "" "" "" "FBN2(NM_001999.3):c.5966G>A (p.(Arg1989His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128301462C>T" "" "VUS" "" "0000524022" "0" "30" "5" "127640785" "127640786" "ins" "0.000379492" "02326" "FBN2_000170" "g.127640785_127640786insC" "" "" "" "FBN2(NM_001999.4):c.5675-12_5675-11insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128305093_128305094insC" "" "likely benign" "" "0000524023" "0" "30" "5" "127641196" "127641196" "subst" "0.000422596" "01804" "FBN2_000067" "g.127641196T>C" "" "" "" "FBN2(NM_001999.3):c.5674+7A>G (p.(=)), FBN2(NM_001999.4):c.5674+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128305504T>C" "" "likely benign" "" "0000524024" "0" "50" "5" "127641242" "127641242" "subst" "4.06326E-6" "02329" "FBN2_000171" "g.127641242C>T" "" "" "" "FBN2(NM_001999.4):c.5635G>A (p.A1879T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128305550C>T" "" "VUS" "" "0000524025" "0" "50" "5" "127641253" "127641253" "subst" "1.2191E-5" "01804" "FBN2_000172" "g.127641253C>T" "" "" "" "FBN2(NM_001999.3):c.5624G>A (p.(Arg1875His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128305561C>T" "" "VUS" "" "0000524026" "0" "50" "5" "127644953" "127644953" "subst" "4.0665E-6" "02329" "FBN2_000173" "g.127644953G>C" "" "" "" "FBN2(NM_001999.4):c.5339C>G (p.P1780R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128309261G>C" "" "VUS" "" "0000524029" "0" "50" "5" "127647051" "127647051" "subst" "4.06405E-6" "02325" "FBN2_000175" "g.127647051C>T" "" "" "" "FBN2(NM_001999.4):c.5015G>A (p.S1672N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128311359C>T" "" "VUS" "" "0000524030" "0" "50" "5" "127647067" "127647067" "subst" "0" "01943" "FBN2_000176" "g.127647067T>C" "" "" "" "FBN2(NM_001999.3):c.4999A>G (p.I1667V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128311375T>C" "" "VUS" "" "0000524031" "0" "30" "5" "127647083" "127647083" "subst" "0.000247865" "02326" "FBN2_000076" "g.127647083G>A" "" "" "" "FBN2(NM_001999.3):c.4983C>T (p.C1661=), FBN2(NM_001999.4):c.4983C>T (p.(Cys1661=), p.C1661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128311391G>A" "" "likely benign" "" "0000524032" "0" "30" "5" "127653826" "127653826" "subst" "4.06507E-6" "02329" "FBN2_000177" "g.127653826T>C" "" "" "" "FBN2(NM_001999.4):c.4717+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128318134T>C" "" "likely benign" "" "0000524033" "0" "30" "5" "127653911" "127653911" "subst" "0.000841347" "02329" "FBN2_000081" "g.127653911G>A" "" "" "" "FBN2(NM_001999.3):c.4647C>T (p.N1549=), FBN2(NM_001999.4):c.4647C>T (p.N1549=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128318219G>A" "" "likely benign" "" "0000524034" "0" "30" "5" "127653982" "127653982" "subst" "1.22022E-5" "02329" "FBN2_000178" "g.127653982A>G" "" "" "" "FBN2(NM_001999.4):c.4595-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128318290A>G" "" "likely benign" "" "0000524035" "0" "30" "5" "127654442" "127654442" "subst" "0" "02329" "FBN2_000179" "g.127654442T>C" "" "" "" "FBN2(NM_001999.4):c.4594+129A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128318750T>C" "" "likely benign" "" "0000524036" "0" "50" "5" "127664441" "127664441" "subst" "2.03174E-5" "02329" "FBN2_000180" "g.127664441C>T" "" "" "" "FBN2(NM_001999.4):c.4418G>A (p.R1473H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128328749C>T" "" "VUS" "" "0000524037" "0" "30" "5" "127666351" "127666351" "subst" "1.62557E-5" "01804" "FBN2_000181" "g.127666351C>T" "" "" "" "FBN2(NM_001999.3):c.4259G>A (p.(Ser1420Asn)), FBN2(NM_001999.4):c.4259G>A (p.S1420N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128330659C>T" "" "likely benign" "" "0000524038" "0" "50" "5" "127666364" "127666364" "subst" "0.000719278" "01943" "FBN2_000182" "g.127666364T>C" "" "" "" "FBN2(NM_001999.3):c.4246A>G (p.T1416A), FBN2(NM_001999.4):c.4246A>G (p.(Thr1416Ala), p.T1416A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128330672T>C" "" "VUS" "" "0000524039" "0" "30" "5" "127666364" "127666364" "subst" "0.000719278" "02329" "FBN2_000182" "g.127666364T>C" "" "" "" "FBN2(NM_001999.3):c.4246A>G (p.T1416A), FBN2(NM_001999.4):c.4246A>G (p.(Thr1416Ala), p.T1416A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128330672T>C" "" "likely benign" "" "0000524040" "0" "30" "5" "127668685" "127668685" "subst" "0.00369856" "02326" "FBN2_000001" "g.127668685G>T" "" "" "" "FBN2(NM_001999.3):c.4141C>A (p.H1381N, p.(His1381Asn)), FBN2(NM_001999.4):c.4141C>A (p.H1381N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128332993G>T" "" "likely benign" "" "0000524041" "0" "10" "5" "127668685" "127668685" "subst" "0.00369856" "02329" "FBN2_000001" "g.127668685G>T" "" "" "" "FBN2(NM_001999.3):c.4141C>A (p.H1381N, p.(His1381Asn)), FBN2(NM_001999.4):c.4141C>A (p.H1381N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128332993G>T" "" "benign" "" "0000524042" "0" "90" "5" "127668694" "127668694" "subst" "0" "02329" "FBN2_000183" "g.127668694A>T" "" "" "" "FBN2(NM_001999.4):c.4132T>A (p.C1378S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128333002A>T" "" "pathogenic" "" "0000524043" "0" "50" "5" "127670509" "127670509" "subst" "1.62533E-5" "01943" "FBN2_000184" "g.127670509T>C" "" "" "" "FBN2(NM_001999.3):c.4001A>G (p.N1334S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128334817T>C" "" "VUS" "" "0000524044" "0" "70" "5" "127670946" "127670946" "subst" "1.21939E-5" "02329" "FBN2_000185" "g.127670946C>T" "" "" "" "FBN2(NM_001999.4):c.3889G>A (p.G1297S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128335254C>T" "" "likely pathogenic" "" "0000524045" "0" "50" "5" "127671182" "127671182" "subst" "4.06372E-6" "02329" "FBN2_000186" "g.127671182C>G" "" "" "" "FBN2(NM_001999.4):c.3812G>C (p.G1271A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128335490C>G" "" "VUS" "" "0000524046" "0" "30" "5" "127671227" "127671227" "subst" "0.000264167" "01804" "FBN2_000187" "g.127671227T>C" "" "" "" "FBN2(NM_001999.3):c.3767A>G (p.Q1256R, p.(Gln1256Arg)), FBN2(NM_001999.4):c.3767A>G (p.Q1256R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128335535T>C" "" "likely benign" "" "0000524047" "0" "30" "5" "127671744" "127671744" "subst" "1.62678E-5" "01804" "FBN2_000101" "g.127671744A>C" "" "" "" "FBN2(NM_001999.3):c.3660T>G (p.I1220M, p.(Ile1220Met)), FBN2(NM_001999.4):c.3660T>G (p.I1220M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128336052A>C" "" "likely benign" "" "0000524048" "0" "50" "5" "127671744" "127671744" "subst" "1.62678E-5" "02326" "FBN2_000101" "g.127671744A>C" "" "" "" "FBN2(NM_001999.3):c.3660T>G (p.I1220M, p.(Ile1220Met)), FBN2(NM_001999.4):c.3660T>G (p.I1220M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128336052A>C" "" "VUS" "" "0000524049" "0" "30" "5" "127671749" "127671749" "subst" "0.000244018" "02326" "FBN2_000188" "g.127671749T>C" "" "" "" "FBN2(NM_001999.3):c.3655A>G (p.(Met1219Val)), FBN2(NM_001999.4):c.3655A>G (p.M1219V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128336057T>C" "" "likely benign" "" "0000524050" "0" "30" "5" "127671795" "127671795" "subst" "4.07222E-6" "02326" "FBN2_000189" "g.127671795T>C" "" "" "" "FBN2(NM_001999.4):c.3609A>G (p.E1203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128336103T>C" "" "likely benign" "" "0000524051" "0" "30" "5" "127674629" "127674629" "subst" "0" "02329" "FBN2_000190" "g.127674629G>A" "" "" "" "FBN2(NM_001999.4):c.3468C>T (p.C1156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128338937G>A" "" "likely benign" "" "0000524052" "0" "50" "5" "127674703" "127674703" "subst" "0.000162493" "01943" "FBN2_000191" "g.127674703C>T" "" "" "" "FBN2(NM_001999.3):c.3394G>A (p.V1132I, p.(Val1132Ile)), FBN2(NM_001999.4):c.3394G>A (p.V1132I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128339011C>T" "" "VUS" "" "0000524053" "0" "30" "5" "127674703" "127674703" "subst" "0.000162493" "01804" "FBN2_000191" "g.127674703C>T" "" "" "" "FBN2(NM_001999.3):c.3394G>A (p.V1132I, p.(Val1132Ile)), FBN2(NM_001999.4):c.3394G>A (p.V1132I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128339011C>T" "" "likely benign" "" "0000524054" "0" "30" "5" "127674703" "127674703" "subst" "0.000162493" "02326" "FBN2_000191" "g.127674703C>T" "" "" "" "FBN2(NM_001999.3):c.3394G>A (p.V1132I, p.(Val1132Ile)), FBN2(NM_001999.4):c.3394G>A (p.V1132I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128339011C>T" "" "likely benign" "" "0000524055" "0" "50" "5" "127680140" "127680140" "subst" "4.06184E-6" "01804" "FBN2_000105" "g.127680140C>T" "" "" "" "FBN2(NM_001999.3):c.3280G>A (p.(Gly1094Arg)), FBN2(NM_001999.4):c.3280G>A (p.G1094R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128344448C>T" "" "VUS" "" "0000524056" "0" "10" "5" "127681100" "127681100" "subst" "0.00181151" "02329" "FBN2_000192" "g.127681100C>A" "" "" "" "FBN2(NM_001999.3):c.3166G>T (p.(Ala1056Ser)), FBN2(NM_001999.4):c.3166G>T (p.A1056S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128345408C>A" "" "benign" "" "0000524057" "0" "30" "5" "127685067" "127685067" "subst" "2.03072E-5" "02329" "FBN2_000193" "g.127685067C>T" "" "" "" "FBN2(NM_001999.4):c.2961G>A (p.T987=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128349375C>T" "" "likely benign" "" "0000524058" "0" "50" "5" "127686655" "127686655" "subst" "0.00010155" "02329" "FBN2_000194" "g.127686655C>T" "" "" "" "FBN2(NM_001999.4):c.2717G>A (p.R906H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128350963C>T" "" "VUS" "" "0000524060" "0" "50" "5" "127697434" "127697434" "subst" "0.00013404" "01943" "FBN2_000195" "g.127697434C>T" "" "" "" "FBN2(NM_001999.3):c.2536G>A (p.E846K), FBN2(NM_001999.4):c.2536G>A (p.E846K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128361741C>T" "" "VUS" "" "0000524061" "0" "50" "5" "127697481" "127697481" "subst" "4.06138E-6" "02325" "FBN2_000196" "g.127697481G>A" "" "" "" "FBN2(NM_001999.3):c.2489C>T (p.(Pro830Leu)), FBN2(NM_001999.4):c.2489C>T (p.P830L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128361788G>A" "" "VUS" "" "0000524062" "0" "50" "5" "127700287" "127700287" "subst" "0.000480237" "01943" "FBN2_000197" "g.127700287A>T" "" "" "" "FBN2(NM_001999.3):c.2428+6T>A (p.?), FBN2(NM_001999.4):c.2428+6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128364594A>T" "" "VUS" "" "0000524063" "0" "30" "5" "127700294" "127700294" "subst" "0.000711897" "02326" "FBN2_000119" "g.127700294A>T" "" "" "" "FBN2(NM_001999.3):c.2427T>A (p.I809=, p.(Ile809=)), FBN2(NM_001999.4):c.2427T>A (p.I809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128364601A>T" "" "likely benign" "" "0000524064" "0" "50" "5" "127700337" "127700337" "subst" "0" "01804" "FBN2_000198" "g.127700337C>G" "" "" "" "FBN2(NM_001999.3):c.2384G>C (p.(Cys795Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128364644C>G" "" "VUS" "" "0000524065" "0" "30" "5" "127702089" "127702089" "subst" "0" "02329" "FBN2_000199" "g.127702089A>G" "" "" "" "FBN2(NM_001999.4):c.2283T>C (p.G761=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128366396A>G" "" "likely benign" "" "0000524066" "0" "50" "5" "127702112" "127702112" "subst" "0.00157438" "01943" "FBN2_000120" "g.127702112C>T" "" "" "" "FBN2(NM_001999.3):c.2260G>A (p.G754S, p.(Gly754Ser)), FBN2(NM_001999.4):c.2260G>A (p.G754S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128366419C>T" "" "VUS" "" "0000524067" "0" "30" "5" "127702112" "127702112" "subst" "0.00157438" "02325" "FBN2_000120" "g.127702112C>T" "" "" "" "FBN2(NM_001999.3):c.2260G>A (p.G754S, p.(Gly754Ser)), FBN2(NM_001999.4):c.2260G>A (p.G754S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128366419C>T" "" "likely benign" "" "0000524068" "0" "30" "5" "127702112" "127702112" "subst" "0.00157438" "02326" "FBN2_000120" "g.127702112C>T" "" "" "" "FBN2(NM_001999.3):c.2260G>A (p.G754S, p.(Gly754Ser)), FBN2(NM_001999.4):c.2260G>A (p.G754S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128366419C>T" "" "likely benign" "" "0000524069" "0" "30" "5" "127702112" "127702112" "subst" "0.00157438" "02329" "FBN2_000120" "g.127702112C>T" "" "" "" "FBN2(NM_001999.3):c.2260G>A (p.G754S, p.(Gly754Ser)), FBN2(NM_001999.4):c.2260G>A (p.G754S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128366419C>T" "" "likely benign" "" "0000524070" "0" "30" "5" "127705027" "127705027" "subst" "0" "02327" "FBN2_000200" "g.127705027T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128369334T>C" "" "likely benign" "" "0000524071" "0" "30" "5" "127710374" "127710374" "subst" "0.00129024" "01804" "FBN2_000201" "g.127710374C>T" "" "" "" "FBN2(NM_001999.3):c.2042G>A (p.(Arg681His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128374681C>T" "" "likely benign" "" "0000524072" "0" "50" "5" "127713468" "127713468" "subst" "0" "01804" "FBN2_000202" "g.127713468G>C" "" "" "" "FBN2(NM_001999.3):c.1826C>G (p.(Thr609Ser)), FBN2(NM_001999.4):c.1826C>G (p.T609S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128377775G>C" "" "VUS" "" "0000524073" "0" "50" "5" "127727815" "127727815" "subst" "1.22019E-5" "01943" "FBN2_000203" "g.127727815T>G" "" "" "" "FBN2(NM_001999.3):c.1499A>C (p.H500P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128392122T>G" "" "VUS" "" "0000524074" "0" "30" "5" "127727832" "127727832" "subst" "1.22025E-5" "01943" "FBN2_000204" "g.127727832T>A" "" "" "" "FBN2(NM_001999.3):c.1482A>T (p.T494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128392139T>A" "" "likely benign" "" "0000524075" "0" "30" "5" "127727852" "127727852" "subst" "0.000211694" "01804" "FBN2_000205" "g.127727852C>T" "" "" "" "FBN2(NM_001999.3):c.1466-4G>A (p.?), FBN2(NM_001999.4):c.1466-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128392159C>T" "" "likely benign" "" "0000524076" "0" "30" "5" "127727852" "127727852" "subst" "0.000211694" "02329" "FBN2_000205" "g.127727852C>T" "" "" "" "FBN2(NM_001999.3):c.1466-4G>A (p.?), FBN2(NM_001999.4):c.1466-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128392159C>T" "" "likely benign" "" "0000524077" "0" "50" "5" "127728870" "127728870" "subst" "1.22025E-5" "02329" "FBN2_000206" "g.127728870C>G" "" "" "" "FBN2(NM_001999.4):c.1423G>C (p.G475R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128393177C>G" "" "VUS" "" "0000524078" "0" "30" "5" "127730898" "127730898" "subst" "0" "02329" "FBN2_000207" "g.127730898A>T" "" "" "" "FBN2(NM_001999.4):c.1148T>A (p.M383K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128395205A>T" "" "likely benign" "" "0000524079" "0" "30" "5" "127744405" "127744405" "subst" "0.00430957" "01804" "FBN2_000208" "g.127744405C>T" "" "" "" "FBN2(NM_001999.3):c.1040G>A (p.R347H, p.(Arg347His)), FBN2(NM_001999.4):c.1040G>A (p.R347H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128408712C>T" "" "likely benign" "" "0000524080" "0" "30" "5" "127744405" "127744405" "subst" "0.00430957" "02326" "FBN2_000208" "g.127744405C>T" "" "" "" "FBN2(NM_001999.3):c.1040G>A (p.R347H, p.(Arg347His)), FBN2(NM_001999.4):c.1040G>A (p.R347H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128408712C>T" "" "likely benign" "" "0000524081" "0" "30" "5" "127744469" "127744469" "subst" "0.00670996" "01804" "FBN2_000130" "g.127744469G>A" "" "" "" "FBN2(NM_001999.3):c.976C>T (p.P326S, p.(Pro326Ser)), FBN2(NM_001999.4):c.976C>T (p.P326S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128408776G>A" "" "likely benign" "" "0000524082" "0" "30" "5" "127744500" "127744500" "subst" "0.0016569" "01804" "FBN2_000132" "g.127744500A>C" "" "" "" "FBN2(NM_001999.3):c.953-8T>G (p.(=)), FBN2(NM_001999.4):c.953-8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128408807A>C" "" "likely benign" "" "0000524083" "0" "50" "5" "127782297" "127782297" "subst" "0.0016409" "01943" "FBN2_000209" "g.127782297C>T" "" "" "" "FBN2(NM_001999.3):c.829G>A (p.V277I, p.(Val277Ile)), FBN2(NM_001999.4):c.829G>A (p.V277I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128446604C>T" "" "VUS" "" "0000524084" "0" "30" "5" "127782297" "127782297" "subst" "0.0016409" "01804" "FBN2_000209" "g.127782297C>T" "" "" "" "FBN2(NM_001999.3):c.829G>A (p.V277I, p.(Val277Ile)), FBN2(NM_001999.4):c.829G>A (p.V277I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128446604C>T" "" "likely benign" "" "0000524085" "0" "30" "5" "127782297" "127782297" "subst" "0.0016409" "02326" "FBN2_000209" "g.127782297C>T" "" "" "" "FBN2(NM_001999.3):c.829G>A (p.V277I, p.(Val277Ile)), FBN2(NM_001999.4):c.829G>A (p.V277I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128446604C>T" "" "likely benign" "" "0000524086" "0" "30" "5" "127782297" "127782297" "subst" "0.0016409" "02329" "FBN2_000209" "g.127782297C>T" "" "" "" "FBN2(NM_001999.3):c.829G>A (p.V277I, p.(Val277Ile)), FBN2(NM_001999.4):c.829G>A (p.V277I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128446604C>T" "" "likely benign" "" "0000524087" "0" "30" "5" "127800434" "127800434" "subst" "9.78569E-5" "01804" "FBN2_000210" "g.127800434C>T" "" "" "" "FBN2(NM_001999.4):c.809G>A (p.(Arg270His), p.R270H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128464741C>T" "" "likely benign" "" "0000524088" "0" "30" "5" "127800515" "127800515" "subst" "0.00959921" "01804" "FBN2_000211" "g.127800515A>G" "" "" "" "FBN2(NM_001999.3):c.728T>C (p.(Ile243Thr)), FBN2(NM_001999.4):c.728T>C (p.I243T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128464822A>G" "" "likely benign" "" "0000524089" "0" "10" "5" "127800623" "127800623" "subst" "0.0219585" "02329" "FBN2_000212" "g.127800623T>C" "" "" "" "FBN2(NM_001999.4):c.629-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128464930T>C" "" "benign" "" "0000524090" "0" "30" "5" "127855015" "127855015" "subst" "0" "01943" "FBN2_000213" "g.127855015G>C" "" "" "" "FBN2(NM_001999.3):c.579C>G (p.P193=), FBN2(NM_001999.4):c.579C>G (p.P193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128519322G>C" "" "likely benign" "" "0000524091" "0" "30" "5" "127863579" "127863579" "subst" "0.0012019" "02329" "FBN2_000214" "g.127863579G>A" "" "" "" "FBN2(NM_001999.3):c.518C>T (p.(Thr173Ile)), FBN2(NM_001999.4):c.518C>T (p.T173I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128527886G>A" "" "likely benign" "" "0000524092" "0" "50" "5" "127866348" "127866348" "subst" "0" "01804" "FBN2_000215" "g.127866348G>A" "" "" "" "FBN2(NM_001999.3):c.376C>T (p.(Arg126Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128530655G>A" "" "VUS" "" "0000524093" "0" "30" "5" "127873038" "127873038" "subst" "0" "01804" "FBN2_000216" "g.127873038C>G" "" "" "" "FBN2(NM_001999.3):c.254+5G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128537345C>G" "" "likely benign" "" "0000524094" "0" "50" "5" "127873044" "127873044" "subst" "0" "01943" "FBN2_000217" "g.127873044C>G" "" "" "" "FBN2(NM_001999.3):c.253G>C (p.G85R, p.(Gly85Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128537351C>G" "" "VUS" "" "0000524095" "0" "10" "5" "127873094" "127873094" "subst" "0.0303035" "01804" "FBN2_000140" "g.127873094G>A" "" "" "" "FBN2(NM_001999.3):c.203C>T (p.(Ala68Val)), FBN2(NM_001999.4):c.203C>T (p.A68V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128537401G>A" "" "benign" "" "0000524096" "0" "30" "5" "127873111" "127873111" "subst" "8.474E-6" "02329" "FBN2_000218" "g.127873111C>T" "" "" "" "FBN2(NM_001999.4):c.186G>A (p.E62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128537418C>T" "" "likely benign" "" "0000524097" "0" "10" "5" "127873114" "127873114" "subst" "0.0788909" "02326" "FBN2_000219" "g.127873114G>C" "" "" "" "FBN2(NM_001999.4):c.183C>G (p.P61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128537421G>C" "" "benign" "" "0000524098" "0" "10" "5" "127873114" "127873114" "subst" "0.0788909" "02329" "FBN2_000219" "g.127873114G>C" "" "" "" "FBN2(NM_001999.4):c.183C>G (p.P61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128537421G>C" "" "benign" "" "0000524099" "0" "30" "5" "127873229" "127873229" "subst" "0.000177104" "01804" "FBN2_000220" "g.127873229G>C" "" "" "" "FBN2(NM_001999.3):c.68C>G (p.(Ala23Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128537536G>C" "" "likely benign" "" "0000524100" "0" "30" "5" "127873271" "127873271" "subst" "0" "02325" "FBN2_000221" "g.127873271A>G" "" "" "" "FBN2(NM_001999.4):c.26T>C (p.L9P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128537578A>G" "" "likely benign" "" "0000597927" "0" "50" "5" "127697434" "127697434" "subst" "0.00013404" "00596" "FBN2_000195" "g.127697434C>T" "" "{PMID:Caylor 2018:29926239}" "" "" "found with TSC1 nonsense c.2530C>T" "Germline" "?" "" "0" "" "" "g.128361741C>T" "" "VUS" "" "0000609420" "0" "50" "5" "127595349" "127595349" "subst" "0.000121938" "02327" "FBN2_000006" "g.127595349C>T" "" "" "" "FBN2(NM_001999.3):c.8537G>A (p.R2846H), FBN2(NM_001999.4):c.8537G>A (p.R2846H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128259657C>T" "" "VUS" "" "0000609421" "0" "30" "5" "127597448" "127597448" "subst" "2.03351E-5" "02327" "FBN2_000222" "g.127597448G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128261756G>A" "" "likely benign" "" "0000609422" "0" "30" "5" "127599227" "127599227" "subst" "0.000365776" "02327" "FBN2_000021" "g.127599227G>T" "" "" "" "FBN2(NM_001999.3):c.8082C>A (p.H2694Q), FBN2(NM_001999.4):c.8082C>A (p.(His2694Gln), p.H2694Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128263535G>T" "" "likely benign" "" "0000609423" "0" "30" "5" "127611731" "127611731" "subst" "0.00039877" "01804" "FBN2_000156" "g.127611731T>C" "" "" "" "FBN2(NM_001999.3):c.7593A>G (p.K2531=, p.(=)), FBN2(NM_001999.4):c.7593A>G (p.K2531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128276039T>C" "" "likely benign" "" "0000609424" "0" "50" "5" "127611847" "127611847" "subst" "0.000126048" "01943" "FBN2_000223" "g.127611847C>T" "" "" "" "FBN2(NM_001999.3):c.7477G>A (p.D2493N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128276155C>T" "" "VUS" "" "0000609425" "0" "30" "5" "127622403" "127622403" "subst" "0.000398154" "02327" "FBN2_000037" "g.127622403C>T" "" "" "" "FBN2(NM_001999.3):c.7012+7G>A (p.(=)), FBN2(NM_001999.4):c.7012+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128286711C>T" "" "likely benign" "" "0000609426" "0" "30" "5" "127622440" "127622440" "subst" "5.68787E-5" "02327" "FBN2_000038" "g.127622440C>A" "" "" "" "FBN2(NM_001999.3):c.6982G>T (p.(Ala2328Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128286748C>A" "" "likely benign" "" "0000609427" "0" "30" "5" "127624261" "127624263" "del" "0" "02327" "FBN2_000224" "g.127624261_127624263del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128288569_128288571del" "" "likely benign" "" "0000609428" "0" "50" "5" "127626520" "127626520" "subst" "0" "02327" "FBN2_000053" "g.127626520T>C" "" "" "" "FBN2(NM_001999.3):c.6349A>G (p.K2117E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128290828T>C" "" "VUS" "" "0000609429" "0" "50" "5" "127640746" "127640746" "subst" "0" "02327" "FBN2_000225" "g.127640746G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128305054G>T" "" "VUS" "" "0000609430" "0" "30" "5" "127641196" "127641196" "subst" "0.000422596" "01943" "FBN2_000067" "g.127641196T>C" "" "" "" "FBN2(NM_001999.3):c.5674+7A>G (p.(=)), FBN2(NM_001999.4):c.5674+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128305504T>C" "" "likely benign" "" "0000609431" "0" "30" "5" "127641196" "127641196" "subst" "0.000422596" "02327" "FBN2_000067" "g.127641196T>C" "" "" "" "FBN2(NM_001999.3):c.5674+7A>G (p.(=)), FBN2(NM_001999.4):c.5674+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128305504T>C" "" "likely benign" "" "0000609432" "0" "30" "5" "127654668" "127654668" "subst" "3.25566E-5" "02327" "FBN2_000227" "g.127654668G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128318976G>A" "" "likely benign" "" "0000609433" "0" "70" "5" "127666303" "127666303" "subst" "0" "02327" "FBN2_000228" "g.127666303C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128330611C>T" "" "likely pathogenic" "" "0000609434" "0" "30" "5" "127666312" "127666312" "subst" "6.50264E-5" "02327" "FBN2_000229" "g.127666312C>T" "" "" "" "FBN2(NM_001999.4):c.4298G>A (p.(Arg1433His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128330620C>T" "" "likely benign" "" "0000609435" "0" "50" "5" "127666351" "127666351" "subst" "1.62557E-5" "02327" "FBN2_000181" "g.127666351C>T" "" "" "" "FBN2(NM_001999.3):c.4259G>A (p.(Ser1420Asn)), FBN2(NM_001999.4):c.4259G>A (p.S1420N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128330659C>T" "" "VUS" "" "0000609436" "0" "70" "5" "127671145" "127671145" "subst" "0" "01943" "FBN2_000230" "g.127671145A>T" "" "" "" "FBN2(NM_001999.3):c.3847+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128335453A>T" "" "likely pathogenic" "" "0000609437" "0" "30" "5" "127671744" "127671744" "subst" "1.62678E-5" "02327" "FBN2_000101" "g.127671744A>C" "" "" "" "FBN2(NM_001999.3):c.3660T>G (p.I1220M, p.(Ile1220Met)), FBN2(NM_001999.4):c.3660T>G (p.I1220M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128336052A>C" "" "likely benign" "" "0000609438" "0" "30" "5" "127680099" "127680099" "subst" "1.62476E-5" "01943" "FBN2_000231" "g.127680099G>A" "" "" "" "FBN2(NM_001999.3):c.3321C>T (p.D1107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128344407G>A" "" "likely benign" "" "0000609439" "0" "10" "5" "127681251" "127681251" "subst" "0.015815" "01943" "FBN2_000110" "g.127681251C>T" "" "" "" "FBN2(NM_001999.3):c.3015G>A (p.L1005=, p.(Leu1005=)), FBN2(NM_001999.4):c.3015G>A (p.L1005=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128345559C>T" "" "benign" "" "0000609440" "0" "10" "5" "127681251" "127681251" "subst" "0.015815" "01804" "FBN2_000110" "g.127681251C>T" "" "" "" "FBN2(NM_001999.3):c.3015G>A (p.L1005=, p.(Leu1005=)), FBN2(NM_001999.4):c.3015G>A (p.L1005=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128345559C>T" "" "benign" "" "0000609441" "0" "30" "5" "127693093" "127693093" "subst" "4.47122E-5" "02327" "FBN2_000115" "g.127693093A>G" "" "" "" "FBN2(NM_001999.4):c.2555-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128357401A>G" "" "likely benign" "" "0000609442" "0" "30" "5" "127693095" "127693095" "subst" "0" "02327" "FBN2_000117" "g.127693095C>A" "" "" "" "FBN2(NM_001999.3):c.2555-8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128357403C>A" "" "likely benign" "" "0000609443" "0" "30" "5" "127697434" "127697434" "subst" "0.00013404" "02327" "FBN2_000195" "g.127697434C>T" "" "" "" "FBN2(NM_001999.3):c.2536G>A (p.E846K), FBN2(NM_001999.4):c.2536G>A (p.E846K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128361741C>T" "" "likely benign" "" "0000609444" "0" "30" "5" "127700362" "127700362" "subst" "1.62598E-5" "02327" "FBN2_000233" "g.127700362A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128364669A>T" "" "likely benign" "" "0000609445" "0" "30" "5" "127705046" "127705046" "subst" "8.58004E-5" "02327" "FBN2_000234" "g.127705046C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128369353C>T" "" "likely benign" "" "0000609446" "0" "50" "5" "127710426" "127710426" "subst" "4.0715E-6" "02327" "FBN2_000235" "g.127710426T>A" "" "" "" "FBN2(NM_001999.3):c.1990A>T (p.T664S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128374733T>A" "" "VUS" "" "0000609447" "0" "30" "5" "127712555" "127712555" "subst" "0.00021596" "02327" "FBN2_000123" "g.127712555G>A" "" "" "" "FBN2(NM_001999.3):c.1850-9C>T, FBN2(NM_001999.4):c.1850-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128376862G>A" "" "likely benign" "" "0000609448" "0" "30" "5" "127714591" "127714591" "subst" "4.08734E-6" "02327" "FBN2_000236" "g.127714591C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128378898C>G" "" "likely benign" "" "0000609449" "0" "10" "5" "127727722" "127727722" "subst" "0.00137077" "02327" "FBN2_000125" "g.127727722C>G" "" "" "" "FBN2(NM_001999.3):c.1592G>C (p.G531A, p.(Gly531Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128392029C>G" "" "benign" "" "0000609450" "0" "30" "5" "127730981" "127730981" "subst" "2.85142E-5" "02327" "FBN2_000237" "g.127730981A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128395288A>C" "" "likely benign" "" "0000609451" "0" "30" "5" "127744434" "127744434" "subst" "2.4416E-5" "02327" "FBN2_000129" "g.127744434G>A" "" "" "" "FBN2(NM_001999.3):c.1011C>T (p.T337=), FBN2(NM_001999.4):c.1011C>T (p.T337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128408741G>A" "" "likely benign" "" "0000609452" "0" "50" "5" "127782216" "127782216" "subst" "4.06157E-6" "02327" "FBN2_000238" "g.127782216G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128446523G>A" "" "VUS" "" "0000609453" "0" "30" "5" "127782302" "127782302" "subst" "1.21857E-5" "01804" "FBN2_000239" "g.127782302G>A" "" "" "" "FBN2(NM_001999.3):c.827-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128446609G>A" "" "likely benign" "" "0000609454" "0" "50" "5" "127800432" "127800432" "subst" "1.22332E-5" "01943" "FBN2_000136" "g.127800432T>G" "" "" "" "FBN2(NM_001999.3):c.811A>C (p.T271P, p.(Thr271Pro)), FBN2(NM_001999.4):c.811A>C (p.T271P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128464739T>G" "" "VUS" "" "0000621461" "0" "30" "5" "127613663" "127613663" "subst" "0.000886273" "01943" "FBN2_000033" "g.127613663G>A" "" "" "" "FBN2(NM_001999.3):c.7380C>T (p.C2460=), FBN2(NM_001999.4):c.7380C>T (p.C2460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128277971G>A" "" "likely benign" "" "0000621462" "0" "10" "5" "127646057" "127646057" "subst" "0" "02329" "FBN2_000226" "g.127646057C>T" "" "" "" "FBN2(NM_001999.4):c.5075-257G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128310365C>T" "" "benign" "" "0000621463" "0" "50" "5" "127693082" "127693082" "subst" "0" "01943" "FBN2_000232" "g.127693082T>G" "" "" "" "FBN2(NM_001999.3):c.2560A>C (p.N854H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128357390T>G" "" "VUS" "" "0000651572" "1" "70" "5" "127671146" "127671146" "subst" "0" "03575" "FBN2_000240" "g.127671146C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs863223604}" "Germline" "" "rs863223604" "0" "" "" "g.128335454C>A" "" "likely pathogenic" "" "0000651573" "1" "30" "5" "127671232" "127671232" "subst" "0.00717357" "03575" "FBN2_000099" "g.127671232G>A" "33/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "33 heterozygous, no homozygous; {DB:CLININrs2279582}" "Germline" "" "rs2279582" "0" "" "" "g.128335540G>A" "" "likely benign" "" "0000651574" "1" "50" "5" "127680124" "127680124" "subst" "9.74849E-5" "03575" "FBN2_000103" "g.127680124C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs202050092}" "Germline" "" "rs202050092" "0" "" "" "g.128344432C>T" "" "VUS" "" "0000651575" "1" "30" "5" "127744405" "127744405" "subst" "0.00430957" "03575" "FBN2_000208" "g.127744405C>T" "13/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs112428886}" "Germline" "" "rs112428886" "0" "" "" "g.128408712C>T" "" "likely benign" "" "0000651576" "1" "30" "5" "127800515" "127800515" "subst" "0.00959921" "03575" "FBN2_000211" "g.127800515A>G" "75/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "75 heterozygous; {DB:CLININrs117524265}" "Germline" "" "rs117524265" "0" "" "" "g.128464822A>G" "" "likely benign" "" "0000651577" "1" "30" "5" "127873094" "127873094" "subst" "0.0303035" "03575" "FBN2_000140" "g.127873094G>A" "54/2786 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "54 heterozygous, no homozygous; {DB:CLININrs62390671}" "Germline" "" "rs62390671" "0" "" "" "g.128537401G>A" "" "likely benign" "" "0000653062" "1" "50" "5" "127623047" "127623047" "subst" "0.00010568" "03575" "FBN2_000163" "g.127623047G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs2307109}" "Germline" "" "rs2307109" "0" "" "" "g.128287355G>A" "" "VUS" "" "0000655256" "0" "30" "5" "127610100" "127610100" "subst" "0" "02329" "FBN2_000241" "g.127610100A>C" "" "" "" "FBN2(NM_001999.4):c.7711+159T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128274408A>C" "" "likely benign" "" "0000655257" "0" "30" "5" "127610646" "127610646" "subst" "0" "02329" "FBN2_000242" "g.127610646G>T" "" "" "" "FBN2(NM_001999.4):c.7595-271C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128274954G>T" "" "likely benign" "" "0000655258" "0" "30" "5" "127611828" "127611828" "subst" "1.62673E-5" "02329" "FBN2_000243" "g.127611828G>A" "" "" "" "FBN2(NM_001999.3):c.7496C>T (p.(Pro2499Leu)), FBN2(NM_001999.4):c.7496C>T (p.P2499L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128276136G>A" "" "likely benign" "" "0000655259" "0" "50" "5" "127622458" "127622458" "subst" "0.000125946" "01943" "FBN2_000244" "g.127622458T>C" "" "" "" "FBN2(NM_001999.3):c.6964A>G (p.I2322V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128286766T>C" "" "VUS" "" "0000655260" "0" "30" "5" "127624575" "127624575" "subst" "0" "02329" "FBN2_000245" "g.127624575G>C" "" "" "" "FBN2(NM_001999.4):c.6637+244C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128288883G>C" "" "likely benign" "" "0000655261" "0" "30" "5" "127653769" "127653769" "subst" "0" "02329" "FBN2_000246" "g.127653769G>A" "" "" "" "FBN2(NM_001999.4):c.4717+72C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128318077G>A" "" "likely benign" "" "0000655262" "0" "50" "5" "127685050" "127685050" "subst" "9.34238E-5" "02329" "FBN2_000247" "g.127685050C>T" "" "" "" "FBN2(NM_001999.4):c.2978G>A (p.(Arg993His), p.R993H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128349358C>T" "" "VUS" "" "0000655263" "0" "30" "5" "127697436" "127697436" "subst" "4.06171E-6" "01943" "FBN2_000248" "g.127697436G>A" "" "" "" "FBN2(NM_001999.3):c.2534C>T (p.T845I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128361743G>A" "" "likely benign" "" "0000655264" "0" "50" "5" "127714543" "127714543" "subst" "6.11885E-5" "02326" "FBN2_000249" "g.127714543A>C" "" "" "" "FBN2(NM_001999.4):c.1644T>G (p.(Asp548Glu), p.D548E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128378850A>C" "" "VUS" "" "0000655265" "0" "30" "5" "127728871" "127728871" "subst" "2.03411E-5" "01943" "FBN2_000250" "g.127728871G>A" "" "" "" "FBN2(NM_001999.3):c.1422C>T (p.A474=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128393178G>A" "" "likely benign" "" "0000655266" "0" "50" "5" "127730925" "127730925" "subst" "1.22082E-5" "01804" "FBN2_000251" "g.127730925C>T" "" "" "" "FBN2(NM_001999.3):c.1121G>A (p.(Arg374His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128395232C>T" "" "VUS" "" "0000655267" "0" "30" "5" "127800637" "127800640" "del" "0" "02329" "FBN2_000252" "g.127800637_127800640del" "" "" "" "FBN2(NM_001999.4):c.629-18_629-15delTCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128464944_128464947del" "" "likely benign" "" "0000655268" "0" "30" "5" "127854811" "127854811" "subst" "0" "02329" "FBN2_000253" "g.127854811A>T" "" "" "" "FBN2(NM_001999.4):c.628+155T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128519118A>T" "" "likely benign" "" "0000655269" "0" "30" "5" "127872670" "127872670" "subst" "0" "02329" "FBN2_000254" "g.127872670G>A" "" "" "" "FBN2(NM_001999.4):c.254+373C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128536977G>A" "" "likely benign" "" "0000669823" "3" "30" "5" "127800515" "127800515" "subst" "0.00959921" "03575" "FBN2_000211" "g.127800515A>G" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 homozygous; {DB:CLININrs117524265}" "Germline" "" "rs117524265" "0" "" "" "g.128464822A>G" "" "likely benign" "" "0000673941" "0" "90" "5" "127671284" "127671284" "subst" "0" "03695" "FBN2_000255" "g.127671284T>C" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000675325" "1" "70" "5" "127670867" "127670867" "subst" "0" "00534" "FBN2_000261" "g.127670867C>G" "" "{PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.128335175C>G" "" "likely pathogenic (dominant)" "ACMG" "0000677368" "0" "50" "5" "127595211" "127595211" "subst" "3.65976E-5" "01943" "FBN2_000256" "g.127595211T>C" "" "" "" "FBN2(NM_001999.3):c.8675A>G (p.D2892G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677369" "0" "30" "5" "127597503" "127597503" "subst" "4.47333E-5" "01943" "FBN2_000257" "g.127597503G>A" "" "" "" "FBN2(NM_001999.3):c.8289C>T (p.Y2763=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677370" "0" "50" "5" "127626563" "127626563" "subst" "0" "01943" "FBN2_000258" "g.127626563G>T" "" "" "" "FBN2(NM_001999.3):c.6306C>A (p.S2102R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677371" "0" "30" "5" "127637099" "127637099" "subst" "1.21936E-5" "01943" "FBN2_000259" "g.127637099A>G" "" "" "" "FBN2(NM_001999.3):c.6021T>C (p.L2007=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677372" "0" "30" "5" "127640695" "127640695" "subst" "0" "01943" "FBN2_000260" "g.127640695G>A" "" "" "" "FBN2(NM_001999.3):c.5754C>T (p.I1918=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677373" "0" "50" "5" "127671189" "127671189" "subst" "3.6575E-5" "01943" "FBN2_000262" "g.127671189T>C" "" "" "" "FBN2(NM_001999.3):c.3805A>G (p.S1269G), FBN2(NM_001999.4):c.3805A>G (p.(Ser1269Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677374" "0" "30" "5" "127680124" "127680124" "subst" "9.74849E-5" "01804" "FBN2_000103" "g.127680124C>T" "" "" "" "FBN2(NM_001999.3):c.3296G>A (p.R1099H, p.(Arg1099His)), FBN2(NM_001999.4):c.3296G>A (p.R1099H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677375" "0" "30" "5" "127680184" "127680184" "subst" "0" "02326" "FBN2_000107" "g.127680184G>A" "" "" "" "FBN2(NM_001999.3):c.3236C>T (p.A1079V), FBN2(NM_001999.4):c.3236C>T (p.A1079V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677376" "0" "50" "5" "127681204" "127681204" "subst" "2.03061E-5" "01943" "FBN2_000263" "g.127681204C>T" "" "" "" "FBN2(NM_001999.3):c.3062G>A (p.R1021H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677377" "0" "30" "5" "127686688" "127686688" "subst" "0.000211258" "01804" "FBN2_000264" "g.127686688T>C" "" "" "" "FBN2(NM_001999.3):c.2684A>G (p.(Lys895Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677378" "0" "30" "5" "127693017" "127693017" "subst" "6.49957E-5" "02326" "FBN2_000114" "g.127693017A>G" "" "" "" "FBN2(NM_001999.3):c.2625T>C (p.C875=), FBN2(NM_001999.4):c.2625T>C (p.C875=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677379" "0" "50" "5" "127697481" "127697481" "subst" "4.06138E-6" "01804" "FBN2_000196" "g.127697481G>A" "" "" "" "FBN2(NM_001999.3):c.2489C>T (p.(Pro830Leu)), FBN2(NM_001999.4):c.2489C>T (p.P830L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677380" "0" "50" "5" "127713560" "127713560" "subst" "4.88194E-5" "01943" "FBN2_000265" "g.127713560C>G" "" "" "" "FBN2(NM_001999.3):c.1734G>C (p.E578D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677381" "0" "30" "5" "127727722" "127727722" "subst" "0.00137077" "01804" "FBN2_000125" "g.127727722C>G" "" "" "" "FBN2(NM_001999.3):c.1592G>C (p.G531A, p.(Gly531Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689407" "0" "30" "5" "127595816" "127595816" "subst" "0" "02329" "FBN2_000266" "g.127595816G>T" "" "" "" "FBN2(NM_001999.4):c.8365-295C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689408" "0" "30" "5" "127610320" "127610320" "subst" "0.000675011" "01943" "FBN2_000027" "g.127610320G>C" "" "" "" "FBN2(NM_001999.3):c.7650C>G (p.T2550=), FBN2(NM_001999.4):c.7650C>G (p.T2550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689409" "0" "30" "5" "127613566" "127613566" "subst" "0.0004189" "01943" "FBN2_000032" "g.127613566C>T" "" "" "" "FBN2(NM_001999.3):c.7471+6G>A, FBN2(NM_001999.4):c.7471+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689410" "0" "30" "5" "127622476" "127622476" "subst" "0.000207233" "02326" "FBN2_000039" "g.127622476T>A" "" "" "" "FBN2(NM_001999.3):c.6946A>T (p.I2316F), FBN2(NM_001999.4):c.6946A>T (p.I2316F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689411" "0" "30" "5" "127637135" "127637135" "subst" "0" "01943" "FBN2_000267" "g.127637135A>T" "" "" "" "FBN2(NM_001999.3):c.5985T>A (p.G1995=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689412" "0" "50" "5" "127637154" "127637154" "subst" "4.06739E-6" "01804" "FBN2_000169" "g.127637154C>T" "" "" "" "FBN2(NM_001999.3):c.5966G>A (p.(Arg1989His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689413" "0" "30" "5" "127637528" "127637528" "subst" "0" "02329" "FBN2_000268" "g.127637528G>A" "" "" "" "FBN2(NM_001999.4):c.5918-326C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689414" "0" "50" "5" "127641563" "127641563" "subst" "1.21921E-5" "01804" "FBN2_000068" "g.127641563C>T" "" "" "" "FBN2(NM_001999.3):c.5500G>A (p.E1834K, p.(Glu1834Lys)), FBN2(NM_001999.4):c.5500G>A (p.E1834K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689415" "0" "30" "5" "127644929" "127644929" "subst" "0.000337618" "01943" "FBN2_000269" "g.127644929G>A" "" "" "" "FBN2(NM_001999.3):c.5353+10C>T, FBN2(NM_001999.4):c.5353+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689416" "0" "30" "5" "127654712" "127654712" "del" "0" "02326" "FBN2_000085" "g.127654712del" "" "" "" "FBN2(NM_001999.4):c.4472-12delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689417" "0" "30" "5" "127686108" "127686108" "subst" "0" "02329" "FBN2_000270" "g.127686108T>C" "" "" "" "FBN2(NM_001999.4):c.2813-411A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689418" "0" "30" "5" "127712248" "127712248" "subst" "0" "02329" "FBN2_000271" "g.127712248T>C" "" "" "" "FBN2(NM_001999.4):c.1972+176A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689419" "0" "30" "5" "127712715" "127712715" "subst" "0" "02329" "FBN2_000272" "g.127712715G>C" "" "" "" "FBN2(NM_001999.4):c.1850-169C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698839" "0" "70" "5" "127674660" "127674660" "subst" "0" "01602" "FBN2_000273" "g.127674660T>C" "" "{PMID:Neubauer 2021:33895855}" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "" "0000701791" "0" "50" "5" "127666298" "127666298" "subst" "0.00803423" "00006" "FBN2_000087" "g.127666298C>T" "" "{PMID:Haskell 2017:28611029}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000709023" "11" "50" "5" "127673724" "127673724" "subst" "0" "03653" "FBN2_000274" "g.127673724C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "" "0000709024" "21" "50" "5" "127623049" "127623049" "subst" "0" "03653" "FBN2_000275" "g.127623049G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "" "0000720124" "0" "30" "5" "127595349" "127595349" "subst" "0.000121938" "01943" "FBN2_000006" "g.127595349C>T" "" "" "" "FBN2(NM_001999.3):c.8537G>A (p.R2846H), FBN2(NM_001999.4):c.8537G>A (p.R2846H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720125" "0" "30" "5" "127597488" "127597488" "subst" "0.000793012" "02326" "FBN2_000014" "g.127597488G>A" "" "" "" "FBN2(NM_001999.3):c.8304C>T (p.N2768=), FBN2(NM_001999.4):c.8304C>T (p.N2768=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720126" "0" "30" "5" "127599263" "127599263" "subst" "7.31731E-5" "01943" "FBN2_000276" "g.127599263C>A" "" "" "" "FBN2(NM_001999.3):c.8046G>T (p.S2682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720127" "0" "50" "5" "127607792" "127607792" "subst" "2.03188E-5" "01943" "FBN2_000151" "g.127607792C>T" "" "" "" "FBN2(NM_001999.3):c.7859G>A (p.G2620E), FBN2(NM_001999.4):c.7859G>A (p.(Gly2620Glu), p.G2620E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720128" "0" "30" "5" "127622474" "127622474" "subst" "0.0182338" "01804" "FBN2_000162" "g.127622474G>T" "" "" "" "FBN2(NM_001999.3):c.6948C>A (p.(=)), FBN2(NM_001999.4):c.6948C>A (p.I2316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720129" "0" "30" "5" "127624232" "127624232" "subst" "0.000292833" "01943" "FBN2_000166" "g.127624232T>C" "" "" "" "FBN2(NM_001999.3):c.6655A>G (p.I2219V, p.(Ile2219Val)), FBN2(NM_001999.4):c.6655A>G (p.I2219V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720130" "0" "50" "5" "127645761" "127645761" "subst" "0" "01943" "FBN2_000277" "g.127645761G>A" "" "" "" "FBN2(NM_001999.3):c.5114C>T (p.P1705L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720131" "0" "30" "5" "127645887" "127645887" "subst" "0" "02329" "FBN2_000278" "g.127645887G>A" "" "" "" "FBN2(NM_001999.4):c.5075-87C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720132" "0" "10" "5" "127646113" "127646113" "subst" "0" "02329" "FBN2_000279" "g.127646113T>A" "" "" "" "FBN2(NM_001999.4):c.5075-313A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000720133" "0" "30" "5" "127647135" "127647135" "subst" "0.00021154" "02326" "FBN2_000280" "g.127647135G>C" "" "" "" "FBN2(NM_001999.4):c.4949-18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720134" "0" "50" "5" "127648490" "127648490" "subst" "0" "01943" "FBN2_000281" "g.127648490G>A" "" "" "" "FBN2(NM_001999.3):c.4718-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720135" "0" "30" "5" "127654069" "127654069" "subst" "0" "02329" "FBN2_000282" "g.127654069T>G" "" "" "" "FBN2(NM_001999.4):c.4595-106A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720136" "0" "30" "5" "127668735" "127668735" "subst" "0.000215601" "02326" "FBN2_000283" "g.127668735C>A" "" "" "" "FBN2(NM_001999.4):c.4100-9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720137" "0" "50" "5" "127671155" "127671155" "subst" "6.09622E-5" "01943" "FBN2_000284" "g.127671155G>A" "" "" "" "FBN2(NM_001999.3):c.3839C>T (p.S1280L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720138" "0" "30" "5" "127671227" "127671227" "subst" "0.000264167" "01943" "FBN2_000187" "g.127671227T>C" "" "" "" "FBN2(NM_001999.3):c.3767A>G (p.Q1256R, p.(Gln1256Arg)), FBN2(NM_001999.4):c.3767A>G (p.Q1256R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720139" "0" "50" "5" "127674703" "127674703" "subst" "0.000162493" "02329" "FBN2_000191" "g.127674703C>T" "" "" "" "FBN2(NM_001999.3):c.3394G>A (p.V1132I, p.(Val1132Ile)), FBN2(NM_001999.4):c.3394G>A (p.V1132I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720140" "0" "30" "5" "127680185" "127680185" "subst" "0.000138128" "02325" "FBN2_000108" "g.127680185C>A" "" "" "" "FBN2(NM_001999.3):c.3235G>T (p.A1079S, p.(Ala1079Ser)), FBN2(NM_001999.4):c.3235G>T (p.A1079S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720141" "0" "50" "5" "127681067" "127681067" "subst" "0" "01804" "FBN2_000285" "g.127681067C>T" "" "" "" "FBN2(NM_001999.3):c.3199G>A (p.(Gly1067Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720142" "0" "30" "5" "127681122" "127681122" "subst" "0.000300549" "01943" "FBN2_000286" "g.127681122G>A" "" "" "" "FBN2(NM_001999.3):c.3144C>T (p.Y1048=), FBN2(NM_001999.4):c.3144C>T (p.Y1048=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720143" "0" "10" "5" "127686594" "127686594" "subst" "0.00243004" "02329" "FBN2_000287" "g.127686594G>A" "" "" "" "FBN2(NM_001999.4):c.2778C>T (p.A926=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000720144" "0" "50" "5" "127700420" "127700420" "subst" "0" "02326" "FBN2_000288" "g.127700420T>C" "" "" "" "FBN2(NM_001999.4):c.2303-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720145" "0" "30" "5" "127702192" "127702192" "subst" "0" "02329" "FBN2_000289" "g.127702192T>A" "" "" "" "FBN2(NM_001999.4):c.2249-69A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720146" "0" "30" "5" "127704558" "127704558" "subst" "0" "02329" "FBN2_000290" "g.127704558G>A" "" "" "" "FBN2(NM_001999.4):c.2248+317C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720147" "0" "30" "5" "127710362" "127710362" "subst" "0" "01804" "FBN2_000291" "g.127710362G>T" "" "" "" "FBN2(NM_001999.3):c.2054C>A (p.(Pro685His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720148" "0" "30" "5" "127710696" "127710696" "subst" "0" "02329" "FBN2_000292" "g.127710696A>G" "" "" "" "FBN2(NM_001999.4):c.1973-253T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720149" "0" "30" "5" "127712555" "127712555" "subst" "0.00021596" "02326" "FBN2_000123" "g.127712555G>A" "" "" "" "FBN2(NM_001999.3):c.1850-9C>T, FBN2(NM_001999.4):c.1850-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720150" "0" "30" "5" "127727814" "127727814" "subst" "4.06719E-6" "02326" "FBN2_000293" "g.127727814A>C" "" "" "" "FBN2(NM_001999.4):c.1500T>G (p.H500Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720151" "0" "30" "5" "127728651" "127728651" "subst" "0" "02329" "FBN2_000294" "g.127728651T>C" "" "" "" "FBN2(NM_001999.4):c.1465+177A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720152" "0" "30" "5" "127744477" "127744477" "subst" "8.95328E-5" "02326" "FBN2_000295" "g.127744477C>T" "" "" "" "FBN2(NM_001999.4):c.968G>A (p.S323N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720153" "0" "30" "5" "127863579" "127863579" "subst" "0.0012019" "01804" "FBN2_000214" "g.127863579G>A" "" "" "" "FBN2(NM_001999.3):c.518C>T (p.(Thr173Ile)), FBN2(NM_001999.4):c.518C>T (p.T173I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720154" "0" "50" "5" "127873139" "127873139" "subst" "3.89162E-5" "01943" "FBN2_000296" "g.127873139C>T" "" "" "" "FBN2(NM_001999.3):c.158G>A (p.G53D, p.(Gly53Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763752" "0" "90" "5" "127668685" "127668685" "subst" "0.00369856" "00000" "FBN2_000001" "g.127668685G>T" "" "{PMID:Duvvari 2016:27007659}" "" "4141G>T" "" "Germline" "" "rs78727187" "0" "" "" "g.128332993G>T" "" "likely pathogenic" "" "0000763767" "0" "50" "5" "127744469" "127744469" "subst" "0.00670996" "00000" "FBN2_000130" "g.127744469G>A" "" "{PMID:Duvvari 2016:27007659}" "" "976G>A" "" "Germline" "" "rs28763954" "0" "" "" "g.128408776G>A" "" "VUS" "" "0000764171" "0" "50" "5" "127613688" "127613688" "subst" "0" "02404" "FBN2_000297" "g.127613688T>G" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Unknown" "yes" "" "0" "" "" "" "" "VUS" "ACMG" "0000764172" "0" "50" "5" "127697463" "127697463" "subst" "4.06141E-6" "02404" "FBN2_000298" "g.127697463G>A" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Unknown" "yes" "" "0" "" "" "" "" "VUS" "ACMG" "0000801841" "0" "30" "5" "127607789" "127607789" "subst" "0" "01943" "FBN2_000300" "g.127607789T>C" "" "" "" "FBN2(NM_001999.3):c.7862A>G (p.N2621S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801842" "0" "30" "5" "127607813" "127607813" "subst" "0" "01804" "FBN2_000024" "g.127607813G>A" "" "" "" "FBN2(NM_001999.3):c.7841-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801843" "0" "30" "5" "127610280" "127610280" "subst" "0.000333352" "01804" "FBN2_000154" "g.127610280G>C" "" "" "" "FBN2(NM_001999.3):c.7690C>G (p.Q2564E, p.(Gln2564Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801844" "0" "50" "5" "127613595" "127613595" "subst" "0" "02325" "FBN2_000301" "g.127613595T>A" "" "" "" "FBN2(NM_001999.4):c.7448A>T (p.D2483V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801845" "0" "30" "5" "127614491" "127614491" "subst" "0.00231208" "02325" "FBN2_000161" "g.127614491A>G" "" "" "" "FBN2(NM_001999.3):c.7181T>C (p.I2394T, p.(Ile2394Thr)), FBN2(NM_001999.4):c.7181T>C (p.I2394T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801846" "0" "30" "5" "127622474" "127622474" "subst" "3.25095E-5" "02326" "FBN2_000302" "g.127622474G>A" "" "" "" "FBN2(NM_001999.4):c.6948C>T (p.I2316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801847" "0" "30" "5" "127637212" "127637212" "subst" "0.000114199" "01943" "FBN2_000303" "g.127637212A>G" "" "" "" "FBN2(NM_001999.3):c.5918-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801848" "0" "50" "5" "127638728" "127638728" "subst" "7.31166E-5" "01943" "FBN2_000304" "g.127638728C>T" "" "" "" "FBN2(NM_001999.3):c.5854G>A (p.V1952I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801849" "0" "30" "5" "127640746" "127640746" "subst" "1.62969E-5" "02329" "FBN2_000305" "g.127640746G>A" "" "" "" "FBN2(NM_001999.4):c.5703C>T (p.N1901=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801850" "0" "50" "5" "127653901" "127653901" "subst" "0" "02329" "FBN2_000306" "g.127653901G>A" "" "" "" "FBN2(NM_001999.4):c.4657C>T (p.R1553C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801851" "0" "30" "5" "127654704" "127654704" "subst" "0.000176475" "02329" "FBN2_000307" "g.127654704T>A" "" "" "" "FBN2(NM_001999.4):c.4472-11A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801852" "0" "30" "5" "127666299" "127666299" "subst" "6.50248E-5" "01943" "FBN2_000088" "g.127666299G>A" "" "" "" "FBN2(NM_001999.3):c.4311C>T (p.S1437=), FBN2(NM_001999.4):c.4311C>T (p.S1437=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801853" "0" "30" "5" "127671232" "127671232" "subst" "0.00717357" "01804" "FBN2_000099" "g.127671232G>A" "" "" "" "FBN2(NM_001999.3):c.3762C>T (p.(Asp1254=)), FBN2(NM_001999.4):c.3762C>T (p.D1254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801854" "0" "30" "5" "127681100" "127681100" "subst" "0.00181151" "01804" "FBN2_000192" "g.127681100C>A" "" "" "" "FBN2(NM_001999.3):c.3166G>T (p.(Ala1056Ser)), FBN2(NM_001999.4):c.3166G>T (p.A1056S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801855" "0" "50" "5" "127686650" "127686650" "subst" "8.12354E-6" "01943" "FBN2_000308" "g.127686650C>T" "" "" "" "FBN2(NM_001999.3):c.2722G>A (p.E908K), FBN2(NM_001999.4):c.2722G>A (p.(Glu908Lys), p.E908K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801856" "0" "30" "5" "127686701" "127686701" "subst" "4.06332E-6" "02329" "FBN2_000309" "g.127686701A>C" "" "" "" "FBN2(NM_001999.4):c.2675-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801857" "0" "30" "5" "127693094" "127693094" "subst" "0.00122766" "02329" "FBN2_000116" "g.127693094T>C" "" "" "" "FBN2(NM_001999.3):c.2555-7A>G, FBN2(NM_001999.4):c.2555-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801858" "0" "50" "5" "127702120" "127702120" "subst" "6.14266E-5" "01943" "FBN2_000310" "g.127702120T>G" "" "" "" "FBN2(NM_001999.3):c.2252A>C (p.E751A), FBN2(NM_001999.4):c.2252A>C (p.E751A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801859" "0" "50" "5" "127713468" "127713468" "subst" "0" "02326" "FBN2_000202" "g.127713468G>C" "" "" "" "FBN2(NM_001999.3):c.1826C>G (p.(Thr609Ser)), FBN2(NM_001999.4):c.1826C>G (p.T609S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801860" "0" "30" "5" "127727852" "127727852" "subst" "0.000211694" "01943" "FBN2_000205" "g.127727852C>T" "" "" "" "FBN2(NM_001999.3):c.1466-4G>A (p.?), FBN2(NM_001999.4):c.1466-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801861" "0" "30" "5" "127727853" "127727853" "subst" "0.0020888" "01804" "FBN2_000126" "g.127727853G>A" "" "" "" "FBN2(NM_001999.3):c.1466-5C>T (p.?), FBN2(NM_001999.4):c.1466-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801862" "0" "10" "5" "127800515" "127800515" "subst" "0.00959921" "02326" "FBN2_000211" "g.127800515A>G" "" "" "" "FBN2(NM_001999.3):c.728T>C (p.(Ile243Thr)), FBN2(NM_001999.4):c.728T>C (p.I243T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000801863" "0" "50" "5" "127872145" "127872147" "del" "0" "02325" "FBN2_000311" "g.127872145_127872147del" "" "" "" "FBN2(NM_001999.4):c.287_289delACT (p.Y96del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801864" "0" "50" "5" "127873067" "127873067" "subst" "0" "02329" "FBN2_000312" "g.127873067C>A" "" "" "" "FBN2(NM_001999.4):c.230G>T (p.R77L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801865" "0" "30" "5" "127873187" "127873187" "subst" "0.000236952" "01804" "FBN2_000144" "g.127873187G>T" "" "" "" "FBN2(NM_001999.3):c.110C>A (p.P37Q, p.(Pro37Gln)), FBN2(NM_001999.4):c.110C>A (p.P37Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000821947" "1" "90" "5" "127647057" "127647057" "subst" "0" "00006" "FBN2_000313" "g.127647057A>C" "" "{PMID:Peeters 2021:32900841}" "" "" "variant characterised functionally" "Germline" "yes" "" "0" "" "" "g.128311365A>C" "" "pathogenic (dominant)" "" "0000821950" "0" "50" "5" "127744469" "127744469" "subst" "0.00670996" "00006" "FBN2_000130" "g.127744469G>A" "1/216 cases" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128408776G>A" "" "VUS" "" "0000821951" "0" "50" "5" "127624232" "127624232" "subst" "0.000292833" "00006" "FBN2_000166" "g.127624232T>C" "1/216 cases" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128288540T>C" "" "VUS" "" "0000821952" "0" "50" "5" "127622491" "127622491" "subst" "0.109629" "00006" "FBN2_000040" "g.127622491T>C" "28/216 cases" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128286799T>C" "" "VUS" "" "0000821953" "0" "50" "5" "127666298" "127666298" "subst" "0.00803423" "00006" "FBN2_000087" "g.127666298C>T" "2/216 cases" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128330606C>T" "" "VUS" "" "0000821954" "0" "50" "5" "127744405" "127744405" "subst" "0.00430957" "00006" "FBN2_000208" "g.127744405C>T" "4/216 cases" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128408712C>T" "" "VUS" "" "0000821955" "0" "50" "5" "127668685" "127668685" "subst" "0.00369856" "00006" "FBN2_000001" "g.127668685G>T" "6/216 cases" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128332993G>T" "" "VUS" "" "0000821956" "0" "50" "5" "127614491" "127614491" "subst" "0.00231208" "00006" "FBN2_000161" "g.127614491A>G" "5/216 cases" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128278799A>G" "" "VUS" "" "0000821957" "0" "50" "5" "127666364" "127666364" "subst" "0.000719278" "00006" "FBN2_000182" "g.127666364T>C" "1/216 cases" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128330672T>C" "" "VUS" "" "0000821958" "0" "50" "5" "127800515" "127800515" "subst" "0.00959921" "00006" "FBN2_000211" "g.127800515A>G" "5/216 cases" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128464822A>G" "" "VUS" "" "0000821959" "0" "50" "5" "127647601" "127647601" "subst" "0" "00006" "FBN2_000320" "g.127647601T>C" "1/216 cases" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128311909T>C" "" "VUS" "" "0000821960" "0" "50" "5" "127671227" "127671227" "subst" "0.000264167" "00006" "FBN2_000187" "g.127671227T>C" "1/216 cases" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128335535T>C" "" "VUS" "" "0000821961" "0" "50" "5" "127697434" "127697434" "subst" "0.00013404" "00006" "FBN2_000195" "g.127697434C>T" "1/216 cases" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128361741C>T" "" "VUS" "" "0000821962" "0" "50" "5" "127595490" "127595490" "subst" "4.06805E-6" "00006" "FBN2_000009" "g.127595490A>G" "1/216 cases" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128259798A>G" "" "VUS" "" "0000821963" "0" "50" "5" "127671189" "127671189" "subst" "3.6575E-5" "00006" "FBN2_000262" "g.127671189T>C" "2/216 cases" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128335497T>C" "" "VUS" "" "0000821964" "0" "50" "5" "127681100" "127681100" "subst" "0.00181151" "00006" "FBN2_000192" "g.127681100C>A" "2/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128345408C>A" "" "VUS" "" "0000821965" "0" "50" "5" "127680185" "127680185" "subst" "0.000138128" "00006" "FBN2_000108" "g.127680185C>A" "1/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128344493C>A" "" "VUS" "" "0000821966" "0" "50" "5" "127597510" "127597510" "subst" "0.000211459" "00006" "FBN2_000015" "g.127597510G>A" "2/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128261818G>A" "" "VUS" "" "0000821967" "0" "50" "5" "127710374" "127710374" "subst" "0.00129024" "00006" "FBN2_000201" "g.127710374C>T" "2/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128374681C>T" "" "VUS" "" "0000821968" "0" "50" "5" "127710369" "127710369" "subst" "0" "00006" "FBN2_000324" "g.127710369C>G" "1/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128374676C>G" "" "VUS" "" "0000821969" "0" "50" "5" "127610280" "127610280" "subst" "0.000333352" "00006" "FBN2_000154" "g.127610280G>C" "1/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128274588G>C" "" "VUS" "" "0000821970" "0" "50" "5" "127641621" "127641621" "subst" "0" "00006" "FBN2_000319" "g.127641621C>A" "1/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128305929C>A" "" "VUS" "" "0000821971" "0" "50" "5" "127597445" "127597445" "subst" "0.00128915" "00006" "FBN2_000013" "g.127597445C>G" "1/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128261753C>G" "" "VUS" "" "0000821972" "0" "50" "5" "127686650" "127686650" "subst" "8.12354E-6" "00006" "FBN2_000308" "g.127686650C>T" "1/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128350958C>T" "" "VUS" "" "0000821973" "0" "50" "5" "127685104" "127685104" "subst" "0" "00006" "FBN2_000323" "g.127685104T>C" "1/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128349412T>C" "" "VUS" "" "0000821974" "0" "50" "5" "127611828" "127611828" "subst" "1.62673E-5" "00006" "FBN2_000243" "g.127611828G>A" "1/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128276136G>A" "" "VUS" "" "0000821975" "0" "50" "5" "127729008" "127729008" "subst" "0.00127022" "00006" "FBN2_000325" "g.127729008T>C" "1/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128393315T>C" "" "VUS" "" "0000821976" "0" "50" "5" "127863579" "127863579" "subst" "0.0012019" "00006" "FBN2_000214" "g.127863579G>A" "1/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128527886G>A" "" "VUS" "" "0000821977" "0" "50" "5" "127729055" "127729055" "subst" "4.48892E-5" "00006" "FBN2_000326" "g.127729055T>C" "2/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128393362T>C" "" "VUS" "" "0000821978" "0" "50" "5" "127744469" "127744469" "subst" "0.00670996" "00006" "FBN2_000130" "g.127744469G>A" "1/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128408776G>A" "" "VUS" "" "0000821979" "0" "50" "5" "127597441" "127597441" "subst" "0.005604" "00006" "FBN2_000012" "g.127597441G>A" "1/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128261749G>A" "" "VUS" "" "0000821980" "0" "50" "5" "127702112" "127702112" "subst" "0.00157438" "00006" "FBN2_000120" "g.127702112C>T" "2/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128366419C>T" "" "VUS" "" "0000821981" "0" "50" "5" "127624232" "127624232" "subst" "0.000292833" "00006" "FBN2_000166" "g.127624232T>C" "3/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128288540T>C" "" "VUS" "" "0000821982" "0" "50" "5" "127614376" "127614376" "subst" "0.00219985" "00006" "FBN2_000002" "g.127614376C>A" "3/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128278684C>A" "" "VUS" "" "0000821983" "0" "50" "5" "127782297" "127782297" "subst" "0.0016409" "00006" "FBN2_000209" "g.127782297C>T" "3/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128446604C>T" "" "VUS" "" "0000821984" "0" "50" "5" "127622491" "127622491" "subst" "0.109629" "00006" "FBN2_000040" "g.127622491T>C" "33/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128286799T>C" "" "VUS" "" "0000821985" "0" "50" "5" "127666298" "127666298" "subst" "0.00803423" "00006" "FBN2_000087" "g.127666298C>T" "5/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128330606C>T" "" "VUS" "" "0000821986" "0" "50" "5" "127744405" "127744405" "subst" "0.00430957" "00006" "FBN2_000208" "g.127744405C>T" "5/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128408712C>T" "" "VUS" "" "0000821987" "0" "50" "5" "127668685" "127668685" "subst" "0.00369856" "00006" "FBN2_000001" "g.127668685G>T" "5/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128332993G>T" "" "VUS" "" "0000821988" "0" "50" "5" "127614491" "127614491" "subst" "0.00231208" "00006" "FBN2_000161" "g.127614491A>G" "7/714 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128278799A>G" "" "VUS" "" "0000821989" "0" "50" "5" "127597441" "127597441" "subst" "0.005604" "00006" "FBN2_000012" "g.127597441G>A" "1/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128261749G>A" "" "VUS" "" "0000821990" "0" "50" "5" "127702112" "127702112" "subst" "0.00157438" "00006" "FBN2_000120" "g.127702112C>T" "2/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128366419C>T" "" "VUS" "" "0000821991" "0" "50" "5" "127614376" "127614376" "subst" "0.00219985" "00006" "FBN2_000002" "g.127614376C>A" "1/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128278684C>A" "" "VUS" "" "0000821992" "0" "50" "5" "127782297" "127782297" "subst" "0.0016409" "00006" "FBN2_000209" "g.127782297C>T" "1/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128446604C>T" "" "VUS" "" "0000821993" "0" "50" "5" "127640746" "127640746" "subst" "0" "00006" "FBN2_000225" "g.127640746G>T" "1/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128305054G>T" "" "VUS" "" "0000821994" "0" "50" "5" "127664406" "127664406" "subst" "1.6257E-5" "00006" "FBN2_000321" "g.127664406C>T" "1/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128328714C>T" "" "VUS" "" "0000821995" "0" "50" "5" "127622512" "127622512" "subst" "8.94636E-5" "00006" "FBN2_000316" "g.127622512C>T" "1/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128286820C>T" "" "VUS" "" "0000821996" "0" "50" "5" "127613617" "127613617" "subst" "0" "00006" "FBN2_000314" "g.127613617A>T" "1/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128277925A>T" "" "VUS" "" "0000821997" "0" "50" "5" "127873205" "127873205" "subst" "0" "00006" "FBN2_000329" "g.127873205T>A" "1/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128537512T>A" "" "VUS" "" "0000821998" "0" "50" "5" "127622473" "127622473" "subst" "4.06345E-6" "00006" "FBN2_000315" "g.127622473C>T" "1/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128286781C>T" "" "VUS" "" "0000821999" "0" "50" "5" "127728858" "127728858" "subst" "0.000126068" "00006" "FBN2_000128" "g.127728858C>T" "1/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128393165C>T" "" "VUS" "" "0000822000" "0" "50" "5" "127641229" "127641229" "subst" "2.03183E-5" "00006" "FBN2_000318" "g.127641229T>C" "1/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128305537T>C" "" "VUS" "" "0000822001" "0" "50" "5" "127626535" "127626535" "subst" "0.000142295" "00006" "FBN2_000317" "g.127626535T>C" "1/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128290843T>C" "" "VUS" "" "0000822002" "0" "50" "5" "127681266" "127681266" "subst" "0" "00006" "FBN2_000322" "g.127681266C>A" "1/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128345574C>A" "" "VUS" "" "0000822003" "0" "50" "5" "127730889" "127730889" "subst" "3.25558E-5" "00006" "FBN2_000327" "g.127730889A>G" "1/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128395196A>G" "" "VUS" "" "0000822004" "0" "50" "5" "127730907" "127730907" "subst" "3.25582E-5" "00006" "FBN2_000328" "g.127730907G>A" "1/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128395214G>A" "" "VUS" "" "0000822005" "0" "50" "5" "127873229" "127873229" "subst" "0.000177104" "00006" "FBN2_000220" "g.127873229G>C" "1/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128537536G>C" "" "VUS" "" "0000822006" "0" "50" "5" "127671155" "127671155" "subst" "6.09622E-5" "00006" "FBN2_000284" "g.127671155G>A" "1/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128335463G>A" "" "VUS" "" "0000822007" "0" "50" "5" "127744477" "127744477" "subst" "8.95328E-5" "00006" "FBN2_000295" "g.127744477C>T" "1/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128408784C>T" "" "VUS" "" "0000822008" "0" "50" "5" "127710426" "127710426" "subst" "4.0715E-6" "00006" "FBN2_000235" "g.127710426T>A" "2/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128374733T>A" "" "VUS" "" "0000822009" "0" "50" "5" "127624232" "127624232" "subst" "0.000292833" "00006" "FBN2_000166" "g.127624232T>C" "1/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128288540T>C" "" "VUS" "" "0000822010" "0" "50" "5" "127666364" "127666364" "subst" "0.000719278" "00006" "FBN2_000182" "g.127666364T>C" "1/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128330672T>C" "" "VUS" "" "0000822011" "0" "50" "5" "127666298" "127666298" "subst" "0.00803423" "00006" "FBN2_000087" "g.127666298C>T" "12/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128330606C>T" "" "VUS" "" "0000822012" "0" "50" "5" "127744469" "127744469" "subst" "0.00670996" "00006" "FBN2_000130" "g.127744469G>A" "2/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128408776G>A" "" "VUS" "" "0000822013" "0" "50" "5" "127744405" "127744405" "subst" "0.00430957" "00006" "FBN2_000208" "g.127744405C>T" "3/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128408712C>T" "" "VUS" "" "0000822014" "0" "50" "5" "127622491" "127622491" "subst" "0.109629" "00006" "FBN2_000040" "g.127622491T>C" "38/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128286799T>C" "" "VUS" "" "0000822015" "0" "50" "5" "127614491" "127614491" "subst" "0.00231208" "00006" "FBN2_000161" "g.127614491A>G" "4/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128278799A>G" "" "VUS" "" "0000822016" "0" "50" "5" "127800515" "127800515" "subst" "0.00959921" "00006" "FBN2_000211" "g.127800515A>G" "5/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128464822A>G" "" "VUS" "" "0000822017" "0" "50" "5" "127668685" "127668685" "subst" "0.00369856" "00006" "FBN2_000001" "g.127668685G>T" "7/913 controls" "{PMID:Peeters 2021:32900841}" "" "" "" "Germline" "" "" "0" "" "" "g.128332993G>T" "" "VUS" "" "0000831699" "1" "90" "5" "127671182" "127671182" "subst" "4.06372E-6" "00006" "FBN2_000186" "g.127671182C>G" "2/255 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.128335490C>G" "" "pathogenic" "" "0000831700" "11" "70" "5" "127670946" "127670946" "subst" "1.21939E-5" "00006" "FBN2_000185" "g.127670946C>T" "2/255 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "yes" "" "0" "" "" "g.128335254C>T" "" "likely pathogenic" "" "0000831701" "1" "70" "5" "127611797" "127611798" "del" "0" "00006" "FBN2_000157" "g.127611797_127611798del" "7/255 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.128276105_128276106del" "" "likely pathogenic" "" "0000831754" "1" "50" "5" "127728870" "127728870" "subst" "1.22025E-5" "00006" "FBN2_000206" "g.127728870C>G" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.128393177C>G" "" "VUS" "" "0000831755" "1" "50" "5" "127710426" "127710426" "subst" "4.0715E-6" "00006" "FBN2_000235" "g.127710426T>A" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.128374733T>A" "" "VUS" "" "0000831756" "1" "50" "5" "127686655" "127686655" "subst" "0.00010155" "00006" "FBN2_000194" "g.127686655C>T" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.128350963C>T" "" "VUS" "" "0000831757" "1" "50" "5" "127686655" "127686655" "subst" "0.00010155" "00006" "FBN2_000194" "g.127686655C>T" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.128350963C>T" "" "VUS" "" "0000831758" "21" "50" "5" "127674629" "127674629" "subst" "0" "00006" "FBN2_000190" "g.127674629G>A" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.128338937G>A" "" "VUS" "" "0000831759" "1" "50" "5" "127664441" "127664441" "subst" "2.03174E-5" "00006" "FBN2_000180" "g.127664441C>T" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.128328749C>T" "" "VUS" "" "0000831760" "1" "50" "5" "127644953" "127644953" "subst" "4.0665E-6" "00006" "FBN2_000173" "g.127644953G>C" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "yes" "" "0" "" "" "g.128309261G>C" "" "VUS" "" "0000831761" "21" "50" "5" "127636620" "127636620" "subst" "0" "00006" "FBN2_000167" "g.127636620C>T" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.128300928C>T" "" "VUS" "" "0000831762" "1" "50" "5" "127623116" "127623116" "subst" "0" "00006" "FBN2_000164" "g.127623116T>C" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.128287424T>C" "" "VUS" "" "0000831763" "1" "50" "5" "127609649" "127609649" "subst" "0" "00006" "FBN2_000153" "g.127609649A>G" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.128273957A>G" "" "VUS" "" "0000831813" "1" "50" "5" "127641242" "127641242" "subst" "4.06326E-6" "00006" "FBN2_000171" "g.127641242C>T" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.128305550C>T" "" "VUS" "" "0000832160" "11" "50" "5" "127744405" "127744405" "subst" "0.00430957" "00006" "FBN2_000208" "g.127744405C>T" "" "{PMID:Schubert 2016:26854089}" "" "" "" "Germline" "" "rs112428886" "0" "" "" "" "" "VUS" "" "0000833439" "0" "70" "5" "127638666" "127638666" "del" "0" "01164" "FBN2_000330" "g.127638666del" "" "" "" "" "ACMG: PVS1, PM2_SUP; predicted in-frame skipping of exon 46 of the FBN2 gene, resulting in an alteration of the cysteine residues in the EGF-like domain" "Germline" "?" "" "0" "" "" "g.128302974del" "" "likely pathogenic (dominant)" "ACMG" "0000850743" "0" "30" "5" "127599227" "127599227" "subst" "0.000365776" "02326" "FBN2_000021" "g.127599227G>T" "" "" "" "FBN2(NM_001999.3):c.8082C>A (p.H2694Q), FBN2(NM_001999.4):c.8082C>A (p.(His2694Gln), p.H2694Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850744" "0" "30" "5" "127622474" "127622474" "subst" "3.25095E-5" "02329" "FBN2_000302" "g.127622474G>A" "" "" "" "FBN2(NM_001999.4):c.6948C>T (p.I2316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850745" "0" "50" "5" "127664415" "127664415" "subst" "0" "01943" "FBN2_000338" "g.127664415G>A" "" "" "" "FBN2(NM_001999.3):c.4444C>T (p.P1482S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850746" "0" "50" "5" "127666351" "127666351" "subst" "1.62557E-5" "02329" "FBN2_000181" "g.127666351C>T" "" "" "" "FBN2(NM_001999.3):c.4259G>A (p.(Ser1420Asn)), FBN2(NM_001999.4):c.4259G>A (p.S1420N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850747" "0" "50" "5" "127668723" "127668723" "subst" "1.21994E-5" "01943" "FBN2_000339" "g.127668723A>G" "" "" "" "FBN2(NM_001999.3):c.4103T>C (p.V1368A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850748" "0" "30" "5" "127671795" "127671795" "subst" "4.07222E-6" "02329" "FBN2_000189" "g.127671795T>C" "" "" "" "FBN2(NM_001999.4):c.3609A>G (p.E1203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850749" "0" "30" "5" "127681257" "127681257" "subst" "0" "02329" "FBN2_000341" "g.127681257A>G" "" "" "" "FBN2(NM_001999.4):c.3009T>C (p.C1003=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850750" "0" "30" "5" "127693005" "127693005" "subst" "8.12466E-6" "01943" "FBN2_000342" "g.127693005G>A" "" "" "" "FBN2(NM_001999.3):c.2637C>T (p.P879=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850751" "0" "30" "5" "127697434" "127697434" "subst" "0.00013404" "02329" "FBN2_000195" "g.127697434C>T" "" "" "" "FBN2(NM_001999.3):c.2536G>A (p.E846K), FBN2(NM_001999.4):c.2536G>A (p.E846K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850752" "0" "30" "5" "127697434" "127697434" "subst" "0.00013404" "02325" "FBN2_000195" "g.127697434C>T" "" "" "" "FBN2(NM_001999.3):c.2536G>A (p.E846K), FBN2(NM_001999.4):c.2536G>A (p.E846K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859723" "0" "30" "5" "127597421" "127597421" "subst" "0.00106968" "01804" "FBN2_000011" "g.127597421T>A" "" "" "" "FBN2(NM_001999.3):c.8364+7A>T (p.(=)), FBN2(NM_001999.4):c.8364+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859724" "0" "50" "5" "127611741" "127611741" "subst" "1.22054E-5" "01943" "FBN2_000331" "g.127611741T>C" "" "" "" "FBN2(NM_001999.3):c.7583A>G (p.K2528R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859725" "0" "50" "5" "127614376" "127614376" "subst" "0.00219985" "01804" "FBN2_000002" "g.127614376C>A" "" "" "" "FBN2(NM_001999.3):c.7296G>T (p.Q2432H, p.(Gln2432His)), FBN2(NM_001999.4):c.7296G>T (p.Q2432H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859726" "0" "30" "5" "127622403" "127622403" "subst" "0.000398154" "01804" "FBN2_000037" "g.127622403C>T" "" "" "" "FBN2(NM_001999.3):c.7012+7G>A (p.(=)), FBN2(NM_001999.4):c.7012+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859727" "0" "50" "5" "127624165" "127624165" "subst" "0" "01804" "FBN2_000332" "g.127624165T>A" "" "" "" "FBN2(NM_001999.3):c.6722A>T (p.(Glu2241Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859728" "0" "30" "5" "127624841" "127624841" "subst" "0.00113484" "01804" "FBN2_000047" "g.127624841G>A" "" "" "" "FBN2(NM_001999.3):c.6615C>T (p.(Asp2205=)), FBN2(NM_001999.4):c.6615C>T (p.D2205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859729" "0" "50" "5" "127624882" "127624882" "subst" "4.06795E-6" "02329" "FBN2_000333" "g.127624882C>T" "" "" "" "FBN2(NM_001999.4):c.6574G>A (p.G2192R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859730" "0" "30" "5" "127624905" "127624905" "subst" "0.000346102" "01804" "FBN2_000334" "g.127624905T>A" "" "" "" "FBN2(NM_001999.3):c.6551A>T (p.(Asn2184Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859731" "0" "30" "5" "127637029" "127637029" "subst" "0.00398547" "01943" "FBN2_000335" "g.127637029A>G" "" "" "" "FBN2(NM_001999.3):c.6046+45T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859732" "0" "30" "5" "127637209" "127637209" "subst" "2.03983E-5" "01804" "FBN2_000336" "g.127637209G>C" "" "" "" "FBN2(NM_001999.3):c.5918-7C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859733" "0" "30" "5" "127641275" "127641275" "subst" "4.87694E-5" "01804" "FBN2_000337" "g.127641275T>A" "" "" "" "FBN2(NM_001999.3):c.5602A>T (p.(Ile1868Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859734" "0" "30" "5" "127641567" "127641567" "subst" "0.00401577" "01804" "FBN2_000069" "g.127641567G>A" "" "" "" "FBN2(NM_001999.3):c.5496C>T (p.(Arg1832=)), FBN2(NM_001999.4):c.5496C>T (p.R1832=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859735" "0" "30" "5" "127680147" "127680147" "subst" "0.000219345" "01804" "FBN2_000340" "g.127680147A>G" "" "" "" "FBN2(NM_001999.3):c.3273T>C (p.(Asn1091=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859736" "0" "50" "5" "127710426" "127710426" "subst" "4.0715E-6" "01943" "FBN2_000235" "g.127710426T>A" "" "" "" "FBN2(NM_001999.3):c.1990A>T (p.T664S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859737" "0" "50" "5" "127714467" "127714467" "subst" "2.85295E-5" "01943" "FBN2_000343" "g.127714467T>C" "" "" "" "FBN2(NM_001999.3):c.1720A>G (p.I574V), FBN2(NM_001999.4):c.1720A>G (p.(Ile574Val), p.I574V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859738" "0" "30" "5" "127800505" "127800505" "subst" "0.00168204" "01804" "FBN2_000138" "g.127800505C>T" "" "" "" "FBN2(NM_001999.3):c.738G>A (p.A246=, p.(Ala246=)), FBN2(NM_001999.4):c.738G>A (p.A246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859739" "0" "50" "5" "127873129" "127873129" "subst" "0" "01943" "FBN2_000344" "g.127873129G>A" "" "" "" "FBN2(NM_001999.3):c.168C>T (p.G56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000873528" "0" "70" "5" "127668609" "127668609" "subst" "0" "00000" "FBN2_000345" "g.127668609C>T" "164" "{PMID:Sun 2018:30076350}" "" "FBN2(NM_001999.3):c.4217G>A(p.C1406Y); MYH8( NM_002472.2):c.4288G>T(p.D1430Y)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.128332917C>T" "" "likely pathogenic" "" "0000881171" "0" "70" "5" "127727788" "127727788" "subst" "1.62689E-5" "02300" "FBN2_000346" "g.127727788C>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM2, PM6, PP3, PP4" "Germline/De novo (untested)" "" "rs199587570" "0" "" "" "g.128392095C>A" "" "likely pathogenic (dominant)" "ACMG" "0000886561" "0" "10" "5" "127597460" "127597460" "subst" "0.00139883" "02329" "FBN2_000347" "g.127597460T>G" "" "" "" "FBN2(NM_001999.3):c.8332A>C (p.(Lys2778Gln)), FBN2(NM_001999.4):c.8332A>C (p.K2778Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886562" "0" "30" "5" "127599185" "127599185" "subst" "0.000130079" "02329" "FBN2_000348" "g.127599185G>A" "" "" "" "FBN2(NM_001999.4):c.8124C>T (p.Y2708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886563" "0" "30" "5" "127599367" "127599367" "subst" "0" "02326" "FBN2_000349" "g.127599367A>T" "" "" "" "FBN2(NM_001999.4):c.7961-19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886564" "0" "50" "5" "127607791" "127607792" "delins" "0" "02327" "FBN2_000350" "g.127607791_127607792delinsTT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886565" "0" "50" "5" "127609564" "127609564" "subst" "9.76364E-5" "02326" "FBN2_000351" "g.127609564A>G" "" "" "" "FBN2(NM_001999.4):c.7808T>C (p.F2603S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886566" "0" "50" "5" "127611765" "127611765" "subst" "0" "02329" "FBN2_000352" "g.127611765C>A" "" "" "" "FBN2(NM_001999.4):c.7559G>T (p.G2520V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886567" "0" "10" "5" "127614376" "127614376" "subst" "0.00219985" "02326" "FBN2_000002" "g.127614376C>A" "" "" "" "FBN2(NM_001999.3):c.7296G>T (p.Q2432H, p.(Gln2432His)), FBN2(NM_001999.4):c.7296G>T (p.Q2432H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886568" "0" "50" "5" "127615964" "127615964" "subst" "0" "01804" "FBN2_000353" "g.127615964C>A" "" "" "" "FBN2(NM_001999.3):c.7058G>T (p.(Arg2353Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886569" "0" "30" "5" "127622476" "127622476" "subst" "0.000207233" "02329" "FBN2_000039" "g.127622476T>A" "" "" "" "FBN2(NM_001999.3):c.6946A>T (p.I2316F), FBN2(NM_001999.4):c.6946A>T (p.I2316F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886570" "0" "30" "5" "127624951" "127624951" "subst" "0.000126731" "02329" "FBN2_000354" "g.127624951T>C" "" "" "" "FBN2(NM_001999.4):c.6512-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886571" "0" "50" "5" "127626546" "127626546" "subst" "0" "02327" "FBN2_000355" "g.127626546A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886572" "0" "30" "5" "127627260" "127627260" "subst" "0.000248022" "01804" "FBN2_000356" "g.127627260G>C" "" "" "" "FBN2(NM_001999.3):c.6253C>G (p.(Pro2085Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886573" "0" "50" "5" "127641563" "127641563" "subst" "1.21921E-5" "02326" "FBN2_000068" "g.127641563C>T" "" "" "" "FBN2(NM_001999.3):c.5500G>A (p.E1834K, p.(Glu1834Lys)), FBN2(NM_001999.4):c.5500G>A (p.E1834K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886574" "0" "50" "5" "127664436" "127664436" "subst" "1.6254E-5" "02325" "FBN2_000357" "g.127664436C>T" "" "" "" "FBN2(NM_001999.4):c.4423G>A (p.E1475K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886575" "0" "30" "5" "127666281" "127666281" "subst" "1.62542E-5" "02329" "FBN2_000358" "g.127666281A>G" "" "" "" "FBN2(NM_001999.4):c.4329T>C (p.D1443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886576" "0" "90" "5" "127666379" "127666379" "subst" "4.06412E-6" "02329" "FBN2_000359" "g.127666379C>T" "" "" "" "FBN2(NM_001999.4):c.4231G>A (p.E1411K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000886577" "0" "50" "5" "127670461" "127670461" "subst" "0" "02327" "FBN2_000360" "g.127670461C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886578" "0" "50" "5" "127680098" "127680098" "subst" "8.12361E-6" "01804" "FBN2_000361" "g.127680098T>C" "" "" "" "FBN2(NM_001999.3):c.3322A>G (p.(Met1108Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886579" "0" "30" "5" "127686594" "127686594" "subst" "0.00243004" "02326" "FBN2_000287" "g.127686594G>A" "" "" "" "FBN2(NM_001999.4):c.2778C>T (p.A926=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886580" "0" "50" "5" "127702120" "127702120" "subst" "6.14266E-5" "02325" "FBN2_000310" "g.127702120T>G" "" "" "" "FBN2(NM_001999.3):c.2252A>C (p.E751A), FBN2(NM_001999.4):c.2252A>C (p.E751A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886581" "0" "30" "5" "127727852" "127727852" "subst" "0.000211694" "02326" "FBN2_000205" "g.127727852C>T" "" "" "" "FBN2(NM_001999.3):c.1466-4G>A (p.?), FBN2(NM_001999.4):c.1466-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886582" "0" "50" "5" "127800434" "127800434" "subst" "9.78569E-5" "02325" "FBN2_000210" "g.127800434C>T" "" "" "" "FBN2(NM_001999.4):c.809G>A (p.(Arg270His), p.R270H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886583" "0" "30" "5" "127863579" "127863579" "subst" "0.0012019" "02326" "FBN2_000214" "g.127863579G>A" "" "" "" "FBN2(NM_001999.3):c.518C>T (p.(Thr173Ile)), FBN2(NM_001999.4):c.518C>T (p.T173I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000909153" "0" "30" "5" "127728882" "127728882" "subst" "4.47475E-5" "03779" "FBN2_000362" "g.127728882C>T" "" "" "" "" "" "Unknown" "" "rs138046782" "0" "" "" "" "" "likely benign" "" "0000912198" "0" "30" "5" "127597460" "127597460" "subst" "0.00139883" "01804" "FBN2_000347" "g.127597460T>G" "" "" "" "FBN2(NM_001999.3):c.8332A>C (p.(Lys2778Gln)), FBN2(NM_001999.4):c.8332A>C (p.K2778Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912199" "0" "10" "5" "127599155" "127599155" "subst" "0.00146447" "02329" "FBN2_000018" "g.127599155G>A" "" "" "" "FBN2(NM_001999.3):c.8154C>T (p.L2718=), FBN2(NM_001999.4):c.8154C>T (p.L2718=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912200" "0" "10" "5" "127614376" "127614376" "subst" "0.00219985" "02329" "FBN2_000002" "g.127614376C>A" "" "" "" "FBN2(NM_001999.3):c.7296G>T (p.Q2432H, p.(Gln2432His)), FBN2(NM_001999.4):c.7296G>T (p.Q2432H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912201" "0" "30" "5" "127624232" "127624232" "subst" "0.000292833" "02329" "FBN2_000166" "g.127624232T>C" "" "" "" "FBN2(NM_001999.3):c.6655A>G (p.I2219V, p.(Ile2219Val)), FBN2(NM_001999.4):c.6655A>G (p.I2219V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912202" "0" "30" "5" "127624801" "127624801" "subst" "1.62901E-5" "02329" "FBN2_000363" "g.127624801T>C" "" "" "" "FBN2(NM_001999.4):c.6637+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912203" "0" "10" "5" "127644923" "127644923" "subst" "0.000687976" "02329" "FBN2_000364" "g.127644923C>T" "" "" "" "FBN2(NM_001999.4):c.5353+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912204" "0" "30" "5" "127644929" "127644929" "subst" "0.000337618" "02329" "FBN2_000269" "g.127644929G>A" "" "" "" "FBN2(NM_001999.3):c.5353+10C>T, FBN2(NM_001999.4):c.5353+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912205" "0" "50" "5" "127670530" "127670530" "subst" "1.2194E-5" "02329" "FBN2_000365" "g.127670530T>C" "" "" "" "FBN2(NM_001999.4):c.3980A>G (p.N1327S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912206" "0" "30" "5" "127671227" "127671227" "subst" "0.000264167" "02329" "FBN2_000187" "g.127671227T>C" "" "" "" "FBN2(NM_001999.3):c.3767A>G (p.Q1256R, p.(Gln1256Arg)), FBN2(NM_001999.4):c.3767A>G (p.Q1256R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912207" "0" "30" "5" "127671749" "127671749" "subst" "0.000244018" "01804" "FBN2_000188" "g.127671749T>C" "" "" "" "FBN2(NM_001999.3):c.3655A>G (p.(Met1219Val)), FBN2(NM_001999.4):c.3655A>G (p.M1219V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912208" "0" "50" "5" "127680167" "127680167" "subst" "0" "02329" "FBN2_000366" "g.127680167T>G" "" "" "" "FBN2(NM_001999.4):c.3253A>C (p.T1085P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912209" "0" "30" "5" "127681122" "127681122" "subst" "0.000300549" "02329" "FBN2_000286" "g.127681122G>A" "" "" "" "FBN2(NM_001999.3):c.3144C>T (p.Y1048=), FBN2(NM_001999.4):c.3144C>T (p.Y1048=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912210" "0" "50" "5" "127704905" "127704905" "subst" "0" "02329" "FBN2_000367" "g.127704905G>A" "" "" "" "FBN2(NM_001999.4):c.2218C>T (p.P740S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912211" "0" "50" "5" "127730907" "127730907" "subst" "3.25582E-5" "02325" "FBN2_000328" "g.127730907G>A" "" "" "" "FBN2(NM_001999.4):c.1139C>T (p.P380L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912212" "0" "30" "5" "127800402" "127800402" "subst" "0" "02326" "FBN2_000368" "g.127800402A>C" "" "" "" "FBN2(NM_001999.4):c.826+15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912213" "0" "30" "5" "127800547" "127800547" "subst" "0" "02329" "FBN2_000369" "g.127800547A>G" "" "" "" "FBN2(NM_001999.4):c.696T>C (p.I232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000919542" "0" "50" "5" "127645796" "127645797" "ins" "0" "01741" "FBN2_000370" "g.127645796_127645797insTTG" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.128310104_128310105insTTG" "" "VUS" "" "0000924214" "0" "30" "5" "127609834" "127609834" "subst" "0" "02329" "FBN2_000371" "g.127609834A>C" "" "" "" "FBN2(NM_001999.4):c.7712-174T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924215" "0" "30" "5" "127624835" "127624835" "subst" "8.1365E-6" "02329" "FBN2_000372" "g.127624835A>G" "" "" "" "FBN2(NM_001999.4):c.6621T>C (p.T2207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924216" "0" "30" "5" "127625570" "127625570" "subst" "0.000102125" "02326" "FBN2_000373" "g.127625570G>A" "" "" "" "FBN2(NM_001999.4):c.6511+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924217" "0" "30" "5" "127625763" "127625763" "subst" "0" "02329" "FBN2_000374" "g.127625763C>T" "" "" "" "FBN2(NM_001999.4):c.6446-124G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924218" "0" "30" "5" "127638467" "127638467" "subst" "0" "02329" "FBN2_000375" "g.127638467G>A" "" "" "" "FBN2(NM_001999.4):c.5917+198C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924219" "0" "50" "5" "127645061" "127645061" "subst" "1.6276E-5" "02329" "FBN2_000376" "g.127645061T>C" "" "" "" "FBN2(NM_001999.4):c.5231A>G (p.Y1744C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924220" "0" "30" "5" "127648122" "127648122" "subst" "0" "02329" "FBN2_000377" "g.127648122A>G" "" "" "" "FBN2(NM_001999.4):c.4879+204T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924221" "0" "30" "5" "127680185" "127680185" "subst" "0.000138128" "01804" "FBN2_000108" "g.127680185C>A" "" "" "" "FBN2(NM_001999.3):c.3235G>T (p.A1079S, p.(Ala1079Ser)), FBN2(NM_001999.4):c.3235G>T (p.A1079S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924222" "0" "50" "5" "127681064" "127681064" "subst" "1.21946E-5" "01804" "FBN2_000378" "g.127681064G>A" "" "" "" "FBN2(NM_001999.3):c.3202C>T (p.(Arg1068Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924223" "0" "30" "5" "127686571" "127686571" "subst" "0.000126177" "01804" "FBN2_000379" "g.127686571C>T" "" "" "" "FBN2(NM_001999.3):c.2801G>A (p.(Arg934Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924224" "0" "30" "5" "127693093" "127693093" "subst" "4.47122E-5" "02329" "FBN2_000115" "g.127693093A>G" "" "" "" "FBN2(NM_001999.4):c.2555-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924225" "0" "50" "5" "127700418" "127700418" "subst" "0" "02329" "FBN2_000380" "g.127700418T>C" "" "" "" "FBN2(NM_001999.4):c.2303A>G (p.D768G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924226" "0" "30" "5" "127713530" "127713530" "subst" "3.25391E-5" "02329" "FBN2_000381" "g.127713530G>A" "" "" "" "FBN2(NM_001999.4):c.1764C>T (p.N588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924227" "0" "50" "5" "127714472" "127714472" "subst" "0" "02326" "FBN2_000382" "g.127714472G>C" "" "" "" "FBN2(NM_001999.4):c.1715C>G (p.A572G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924228" "0" "30" "5" "127744315" "127744315" "subst" "0" "02329" "FBN2_000383" "g.127744315T>C" "" "" "" "FBN2(NM_001999.4):c.1078+52A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924229" "0" "30" "5" "127800212" "127800212" "subst" "0" "02329" "FBN2_000384" "g.127800212C>T" "" "" "" "FBN2(NM_001999.4):c.826+205G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928996" "0" "30" "5" "127614689" "127614689" "subst" "0" "02329" "FBN2_000385" "g.127614689T>C" "" "" "" "FBN2(NM_001999.4):c.7139-156A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928997" "0" "30" "5" "127625174" "127625174" "subst" "0" "02329" "FBN2_000386" "g.127625174G>A" "" "" "" "FBN2(NM_001999.4):c.6512-230C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928998" "0" "30" "5" "127641346" "127641346" "subst" "0.000162729" "02329" "FBN2_000387" "g.127641346C>T" "" "" "" "FBN2(NM_001999.4):c.5549-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928999" "0" "30" "5" "127641656" "127641656" "subst" "0" "02329" "FBN2_000388" "g.127641656T>A" "" "" "" "FBN2(NM_001999.4):c.5423-16A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929000" "0" "30" "5" "127641897" "127641897" "subst" "0" "02329" "FBN2_000389" "g.127641897C>T" "" "" "" "FBN2(NM_001999.4):c.5423-257G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929001" "0" "50" "5" "127664452" "127664452" "subst" "1.21907E-5" "02325" "FBN2_000390" "g.127664452C>T" "" "" "" "FBN2(NM_001999.4):c.4407G>A (p.P1469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929002" "0" "50" "5" "127666351" "127666351" "subst" "1.62557E-5" "02325" "FBN2_000181" "g.127666351C>T" "" "" "" "FBN2(NM_001999.3):c.4259G>A (p.(Ser1420Asn)), FBN2(NM_001999.4):c.4259G>A (p.S1420N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929003" "0" "30" "5" "127668787" "127668787" "subst" "0" "02329" "FBN2_000391" "g.127668787A>G" "" "" "" "FBN2(NM_001999.4):c.4100-61T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929005" "0" "50" "5" "127800415" "127800415" "subst" "0" "02329" "FBN2_000393" "g.127800415A>G" "" "" "" "FBN2(NM_001999.4):c.826+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000932948" "0" "30" "5" "127664441" "127664441" "subst" "2.03174E-5" "03779" "FBN2_000180" "g.127664441C>T" "" "" "" "" "" "Unknown" "" "rs140812463" "0" "" "" "" "" "likely benign" "" "0000948441" "0" "50" "5" "127609564" "127609564" "subst" "9.76364E-5" "02329" "FBN2_000351" "g.127609564A>G" "" "" "" "FBN2(NM_001999.4):c.7808T>C (p.F2603S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948442" "0" "50" "5" "127609567" "127609567" "subst" "0" "02327" "FBN2_000394" "g.127609567C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948443" "0" "30" "5" "127624859" "127624859" "subst" "2.84687E-5" "02329" "FBN2_000395" "g.127624859T>C" "" "" "" "FBN2(NM_001999.4):c.6597A>G (p.P2199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948444" "0" "50" "5" "127636522" "127636522" "subst" "4.06276E-6" "02329" "FBN2_000396" "g.127636522G>A" "" "" "" "FBN2(NM_001999.4):c.6153C>T (p.S2051=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948445" "0" "30" "5" "127637496" "127637496" "subst" "0" "02329" "FBN2_000397" "g.127637496C>G" "" "" "" "FBN2(NM_001999.4):c.5918-294G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948446" "0" "50" "5" "127640644" "127640644" "subst" "6.50687E-5" "02325" "FBN2_000398" "g.127640644C>T" "" "" "" "FBN2(NM_001999.4):c.5800+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948447" "0" "30" "5" "127641734" "127641734" "subst" "0" "02329" "FBN2_000399" "g.127641734T>C" "" "" "" "FBN2(NM_001999.4):c.5423-94A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948448" "0" "30" "5" "127644697" "127644697" "subst" "0" "02329" "FBN2_000400" "g.127644697C>G" "" "" "" "FBN2(NM_001999.4):c.5353+242G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948449" "0" "30" "5" "127653668" "127653668" "subst" "0" "02329" "FBN2_000401" "g.127653668G>A" "" "" "" "FBN2(NM_001999.4):c.4717+173C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948450" "0" "30" "5" "127664689" "127664689" "subst" "0" "02329" "FBN2_000402" "g.127664689T>C" "" "" "" "FBN2(NM_001999.4):c.4346-176A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948451" "0" "50" "5" "127671182" "127671182" "subst" "4.06372E-6" "02326" "FBN2_000186" "g.127671182C>G" "" "" "" "FBN2(NM_001999.4):c.3812G>C (p.G1271A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948452" "0" "30" "5" "127671400" "127671400" "subst" "0" "02329" "FBN2_000403" "g.127671400T>G" "" "" "" "FBN2(NM_001999.4):c.3725-131A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948453" "0" "50" "5" "127680124" "127680124" "subst" "9.74849E-5" "02329" "FBN2_000103" "g.127680124C>T" "" "" "" "FBN2(NM_001999.3):c.3296G>A (p.R1099H, p.(Arg1099His)), FBN2(NM_001999.4):c.3296G>A (p.R1099H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948454" "0" "50" "5" "127685120" "127685120" "subst" "1.62533E-5" "01804" "FBN2_000404" "g.127685120G>A" "" "" "" "FBN2(NM_001999.3):c.2908C>T (p.(Arg970Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948455" "0" "30" "5" "127685542" "127685542" "subst" "0" "02329" "FBN2_000405" "g.127685542C>G" "" "" "" "FBN2(NM_001999.4):c.2863+105G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948456" "0" "30" "5" "127693226" "127693226" "subst" "0" "02329" "FBN2_000406" "g.127693226G>C" "" "" "" "FBN2(NM_001999.4):c.2555-139C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948457" "0" "30" "5" "127700287" "127700287" "subst" "0.000480237" "02329" "FBN2_000197" "g.127700287A>T" "" "" "" "FBN2(NM_001999.3):c.2428+6T>A (p.?), FBN2(NM_001999.4):c.2428+6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948458" "0" "30" "5" "127713368" "127713368" "subst" "0" "02329" "FBN2_000407" "g.127713368T>C" "" "" "" "FBN2(NM_001999.4):c.1849+77A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948459" "0" "50" "5" "127714577" "127714577" "subst" "0" "02326" "FBN2_000408" "g.127714577T>C" "" "" "" "FBN2(NM_001999.4):c.1610A>G (p.D537G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948460" "0" "30" "5" "127727814" "127727814" "subst" "4.06719E-6" "02327" "FBN2_000293" "g.127727814A>C" "" "" "" "FBN2(NM_001999.4):c.1500T>G (p.H500Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948461" "0" "30" "5" "127744434" "127744434" "subst" "2.4416E-5" "02329" "FBN2_000129" "g.127744434G>A" "" "" "" "FBN2(NM_001999.3):c.1011C>T (p.T337=), FBN2(NM_001999.4):c.1011C>T (p.T337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948462" "0" "30" "5" "127800393" "127800393" "subst" "4.12541E-6" "02329" "FBN2_000409" "g.127800393T>C" "" "" "" "FBN2(NM_001999.4):c.826+24A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948463" "0" "50" "5" "127800432" "127800432" "subst" "1.22332E-5" "02329" "FBN2_000136" "g.127800432T>G" "" "" "" "FBN2(NM_001999.3):c.811A>C (p.T271P, p.(Thr271Pro)), FBN2(NM_001999.4):c.811A>C (p.T271P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948464" "0" "30" "5" "127855015" "127855015" "subst" "0" "02329" "FBN2_000213" "g.127855015G>C" "" "" "" "FBN2(NM_001999.3):c.579C>G (p.P193=), FBN2(NM_001999.4):c.579C>G (p.P193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958909" "0" "50" "5" "127674667" "127674667" "subst" "3.25E-5" "00006" "FBN2_000411" "g.127674667C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING" "Germline/De novo (untested)" "" "" "0" "" "" "g.128338975C>T" "" "VUS" "ACMG" "0000958968" "0" "50" "5" "127681050" "127681050" "subst" "0" "00006" "FBN2_000412" "g.127681050T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.128345358T>C" "" "VUS" "ACMG" "0000959153" "0" "50" "5" "127599251" "127599251" "subst" "4.06468E-5" "00006" "FBN2_000410" "g.127599251G>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.128263559G>T" "" "VUS" "ACMG" "0000959183" "0" "50" "5" "127680167" "127680167" "subst" "0" "00006" "FBN2_000366" "g.127680167T>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.128344475T>G" "" "VUS" "ACMG" "0000963394" "0" "30" "5" "127595685" "127595685" "subst" "0" "02329" "FBN2_000413" "g.127595685T>C" "" "" "" "FBN2(NM_001999.4):c.8365-164A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963395" "0" "30" "5" "127595788" "127595788" "subst" "0" "02329" "FBN2_000414" "g.127595788C>T" "" "" "" "FBN2(NM_001999.4):c.8365-267G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963396" "0" "30" "5" "127624698" "127624698" "subst" "0" "02329" "FBN2_000415" "g.127624698A>C" "" "" "" "FBN2(NM_001999.4):c.6637+121T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963397" "0" "30" "5" "127625230" "127625230" "subst" "0" "02329" "FBN2_000416" "g.127625230G>A" "" "" "" "FBN2(NM_001999.4):c.6512-286C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963398" "0" "30" "5" "127626135" "127626135" "subst" "0" "02329" "FBN2_000417" "g.127626135T>C" "" "" "" "FBN2(NM_001999.4):c.6445+289A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963399" "0" "30" "5" "127626817" "127626817" "subst" "0" "02329" "FBN2_000418" "g.127626817T>A" "" "" "" "FBN2(NM_001999.4):c.6293-241A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963400" "0" "30" "5" "127636282" "127636282" "subst" "0" "02329" "FBN2_000419" "g.127636282T>C" "" "" "" "FBN2(NM_001999.4):c.6166+227A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963401" "0" "50" "5" "127636598" "127636598" "subst" "2.03231E-5" "02329" "FBN2_000420" "g.127636598G>A" "" "" "" "FBN2(NM_001999.4):c.6077C>T (p.S2026F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963402" "0" "30" "5" "127640795" "127640795" "subst" "8.00279E-5" "02329" "FBN2_000421" "g.127640795T>C" "" "" "" "FBN2(NM_001999.4):c.5675-21A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963403" "0" "50" "5" "127641544" "127641544" "subst" "0" "02325" "FBN2_000422" "g.127641544C>T" "" "" "" "FBN2(NM_001999.4):c.5519G>A (p.S1840N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963404" "0" "50" "5" "127645025" "127645025" "subst" "1.21997E-5" "02326" "FBN2_000074" "g.127645025T>C" "" "" "" "FBN2(NM_001999.3):c.5267A>G (p.N1756S), FBN2(NM_001999.4):c.5267A>G (p.(Asn1756Ser), p.N1756S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963405" "0" "50" "5" "127645684" "127645684" "subst" "1.21879E-5" "02326" "FBN2_000423" "g.127645684T>C" "" "" "" "FBN2(NM_001999.4):c.5191A>G (p.N1731D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963406" "0" "30" "5" "127645927" "127645927" "subst" "0" "02329" "FBN2_000424" "g.127645927G>C" "" "" "" "FBN2(NM_001999.4):c.5075-127C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963407" "0" "30" "5" "127648044" "127648044" "subst" "0" "02329" "FBN2_000425" "g.127648044C>A" "" "" "" "FBN2(NM_001999.4):c.4879+282G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963408" "0" "50" "5" "127648481" "127648481" "subst" "3.25929E-5" "02329" "FBN2_000426" "g.127648481C>T" "" "" "" "FBN2(NM_001999.4):c.4724G>A (p.R1575H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963409" "0" "70" "5" "127671264" "127671264" "subst" "0" "02329" "FBN2_000427" "g.127671264C>G" "" "" "" "FBN2(NM_001999.4):c.3730G>C (p.D1244H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000963410" "0" "50" "5" "127673721" "127673721" "subst" "0" "02329" "FBN2_000428" "g.127673721T>G" "" "" "" "FBN2(NM_001999.4):c.3566A>C (p.(His1189Pro), p.H1189P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963411" "0" "30" "5" "127681461" "127681461" "subst" "0" "02329" "FBN2_000429" "g.127681461G>A" "" "" "" "FBN2(NM_001999.4):c.2990-185C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963412" "0" "30" "5" "127686496" "127686496" "subst" "0" "02329" "FBN2_000430" "g.127686496A>T" "" "" "" "FBN2(NM_001999.4):c.2812+64T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963413" "0" "50" "5" "127702120" "127702120" "subst" "6.14266E-5" "02329" "FBN2_000310" "g.127702120T>G" "" "" "" "FBN2(NM_001999.3):c.2252A>C (p.E751A), FBN2(NM_001999.4):c.2252A>C (p.E751A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963414" "0" "50" "5" "127727830" "127727830" "subst" "0" "02329" "FBN2_000145" "g.127727830A>G" "" "" "" "FBN2(NM_001999.4):c.1484T>C (p.I495T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963415" "0" "30" "5" "127728581" "127728581" "subst" "0" "02329" "FBN2_000431" "g.127728581T>G" "" "" "" "FBN2(NM_001999.4):c.1465+247A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963416" "0" "30" "5" "127728734" "127728734" "subst" "0" "02329" "FBN2_000432" "g.127728734A>G" "" "" "" "FBN2(NM_001999.4):c.1465+94T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963417" "0" "30" "5" "127728862" "127728862" "subst" "1.22007E-5" "02329" "FBN2_000433" "g.127728862C>T" "" "" "" "FBN2(NM_001999.4):c.1431G>A (p.G477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963418" "0" "30" "5" "127729008" "127729008" "subst" "0.00127022" "02329" "FBN2_000325" "g.127729008T>C" "" "" "" "FBN2(NM_001999.4):c.1285A>G (p.S429G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963419" "0" "30" "5" "127782569" "127782569" "subst" "0" "02329" "FBN2_000434" "g.127782569C>T" "" "" "" "FBN2(NM_001999.4):c.827-270G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963420" "0" "30" "5" "127782617" "127782617" "subst" "0" "02329" "FBN2_000435" "g.127782617T>A" "" "" "" "FBN2(NM_001999.4):c.827-318A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963421" "0" "50" "5" "127800432" "127800432" "subst" "1.22332E-5" "02327" "FBN2_000136" "g.127800432T>G" "" "" "" "FBN2(NM_001999.3):c.811A>C (p.T271P, p.(Thr271Pro)), FBN2(NM_001999.4):c.811A>C (p.T271P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963422" "0" "30" "5" "127871832" "127871832" "subst" "0" "02329" "FBN2_000436" "g.127871832A>G" "" "" "" "FBN2(NM_001999.4):c.337+263T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963423" "0" "30" "5" "127873000" "127873000" "subst" "0" "02329" "FBN2_000437" "g.127873000C>T" "" "" "" "FBN2(NM_001999.4):c.254+43G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963424" "0" "50" "5" "127873041" "127873041" "dup" "0" "02327" "FBN2_000438" "g.127873041dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976498" "0" "30" "5" "127597535" "127597535" "subst" "0.00050011" "02329" "FBN2_000016" "g.127597535C>T" "" "" "" "FBN2(NM_001999.3):c.8257G>A (p.(Glu2753Lys)), FBN2(NM_001999.4):c.8257G>A (p.E2753K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976499" "0" "30" "5" "127599227" "127599227" "subst" "0.000365776" "02329" "FBN2_000021" "g.127599227G>T" "" "" "" "FBN2(NM_001999.3):c.8082C>A (p.H2694Q), FBN2(NM_001999.4):c.8082C>A (p.(His2694Gln), p.H2694Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976500" "0" "30" "5" "127607502" "127607502" "subst" "0" "02329" "FBN2_000439" "g.127607502T>A" "" "" "" "FBN2(NM_001999.4):c.7960+189A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976501" "0" "30" "5" "127610125" "127610125" "subst" "0" "02329" "FBN2_000440" "g.127610125C>T" "" "" "" "FBN2(NM_001999.4):c.7711+134G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976502" "0" "30" "5" "127612185" "127612185" "subst" "0" "02329" "FBN2_000441" "g.127612185G>A" "" "" "" "FBN2(NM_001999.4):c.7472-333C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976503" "0" "30" "5" "127616156" "127616156" "subst" "0" "02329" "FBN2_000442" "g.127616156T>C" "" "" "" "FBN2(NM_001999.4):c.7013-147A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976504" "0" "30" "5" "127627198" "127627198" "subst" "0.000162762" "02329" "FBN2_000443" "g.127627198A>C" "" "" "" "FBN2(NM_001999.4):c.6292+23T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976505" "0" "30" "5" "127636307" "127636307" "subst" "0" "02329" "FBN2_000444" "g.127636307T>G" "" "" "" "FBN2(NM_001999.4):c.6166+202A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976506" "0" "50" "5" "127636620" "127636620" "subst" "0" "02327" "FBN2_000167" "g.127636620C>T" "" "" "" "FBN2(NM_001999.4):c.6055G>A (p.E2019K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976507" "0" "50" "5" "127637137" "127637137" "subst" "3.25291E-5" "01804" "FBN2_000445" "g.127637137C>T" "" "" "" "FBN2(NM_001999.4):c.5983G>A (p.(Gly1995Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976508" "0" "30" "5" "127640777" "127640777" "subst" "1.7204E-5" "01804" "FBN2_000446" "g.127640777A>G" "" "" "" "FBN2(NM_001999.4):c.5675-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976509" "0" "50" "5" "127641279" "127641279" "subst" "1.62583E-5" "01804" "FBN2_000447" "g.127641279G>C" "" "" "" "FBN2(NM_001999.4):c.5598C>G (p.(Asp1866Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976510" "0" "30" "5" "127644623" "127644623" "subst" "0" "02329" "FBN2_000448" "g.127644623T>C" "" "" "" "FBN2(NM_001999.4):c.5353+316A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976511" "0" "50" "5" "127647051" "127647051" "subst" "4.06405E-6" "02326" "FBN2_000175" "g.127647051C>T" "" "" "" "FBN2(NM_001999.4):c.5015G>A (p.S1672N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976512" "0" "50" "5" "127654563" "127654563" "subst" "0" "01804" "FBN2_000449" "g.127654563G>C" "" "" "" "FBN2(NM_001999.4):c.4594+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976513" "0" "50" "5" "127654670" "127654670" "subst" "8.13875E-6" "01804" "FBN2_000084" "g.127654670T>G" "" "" "" "FBN2(NM_001999.4):c.4495A>C (p.(Asn1499His), p.N1499H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976514" "0" "30" "5" "127666551" "127666551" "subst" "0" "02329" "FBN2_000450" "g.127666551G>A" "" "" "" "FBN2(NM_001999.4):c.4223-164C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976515" "0" "50" "5" "127668612" "127668612" "subst" "0" "01804" "FBN2_000451" "g.127668612T>A" "" "" "" "FBN2(NM_001999.4):c.4214A>T (p.(Lys1405Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976516" "0" "50" "5" "127670919" "127670919" "dup" "0" "01804" "FBN2_000452" "g.127670919dup" "" "" "" "FBN2(NM_001999.4):c.3916dup (p.(Tyr1306LeufsTer7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976517" "0" "50" "5" "127673704" "127673704" "subst" "0" "01804" "FBN2_000453" "g.127673704G>A" "" "" "" "FBN2(NM_001999.4):c.3583C>T (p.(Arg1195Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976518" "0" "50" "5" "127673721" "127673721" "subst" "0" "01804" "FBN2_000428" "g.127673721T>G" "" "" "" "FBN2(NM_001999.4):c.3566A>C (p.(His1189Pro), p.H1189P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976519" "0" "50" "5" "127674654" "127674654" "subst" "0" "02325" "FBN2_000454" "g.127674654C>G" "" "" "" "FBN2(NM_001999.4):c.3443G>C (p.S1148T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976520" "0" "30" "5" "127681063" "127681063" "subst" "0.000162616" "01804" "FBN2_000455" "g.127681063C>T" "" "" "" "FBN2(NM_001999.4):c.3203G>A (p.(Arg1068Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976521" "0" "30" "5" "127685408" "127685408" "subst" "0" "02329" "FBN2_000456" "g.127685408C>A" "" "" "" "FBN2(NM_001999.4):c.2863+239G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976522" "0" "30" "5" "127685590" "127685590" "subst" "0" "02329" "FBN2_000457" "g.127685590T>C" "" "" "" "FBN2(NM_001999.4):c.2863+57A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976523" "0" "50" "5" "127693075" "127693075" "subst" "0" "01804" "FBN2_000458" "g.127693075C>G" "" "" "" "FBN2(NM_001999.4):c.2567G>C (p.(Cys856Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976524" "0" "30" "5" "127697268" "127697268" "subst" "0" "02329" "FBN2_000459" "g.127697268C>T" "" "" "" "FBN2(NM_001999.4):c.2554+148G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976525" "0" "30" "5" "127697348" "127697348" "subst" "0" "02329" "FBN2_000460" "g.127697348T>A" "" "" "" "FBN2(NM_001999.4):c.2554+68A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976526" "0" "30" "5" "127705202" "127705202" "subst" "0" "02329" "FBN2_000461" "g.127705202C>G" "" "" "" "FBN2(NM_001999.4):c.2096-175G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976527" "0" "30" "5" "127714093" "127714093" "subst" "0" "01804" "FBN2_000462" "g.127714093G>A" "" "" "" "FBN2(NM_001999.4):c.1723+371C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976528" "0" "30" "5" "127727771" "127727771" "subst" "0.000178956" "01804" "FBN2_000463" "g.127727771A>T" "" "" "" "FBN2(NM_001999.4):c.1543T>A (p.(Ser515Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976529" "0" "30" "5" "127731178" "127731178" "subst" "0" "02329" "FBN2_000464" "g.127731178G>T" "" "" "" "FBN2(NM_001999.4):c.1079-211C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976530" "0" "30" "5" "127731184" "127731184" "subst" "0" "02329" "FBN2_000465" "g.127731184A>G" "" "" "" "FBN2(NM_001999.4):c.1079-217T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976531" "0" "30" "5" "127800620" "127800620" "subst" "1.62452E-5" "01804" "FBN2_000466" "g.127800620A>G" "" "" "" "FBN2(NM_001999.4):c.629-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976532" "0" "30" "5" "127866347" "127866347" "subst" "0.000113803" "01804" "FBN2_000467" "g.127866347C>T" "" "" "" "FBN2(NM_001999.4):c.377G>A (p.(Arg126His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000986887" "1" "70" "5" "127610316" "127610316" "subst" "0" "04405" "FBN2_000468" "g.127610316C>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "carries likely causative variants in more than one gene" "Germline" "" "" "0" "" "" "g.128274624C>G" "" "likely pathogenic" "ACMG" "0000994600" "0" "50" "5" "127610357" "127610357" "subst" "0" "01804" "FBN2_000469" "g.127610357G>T" "" "" "" "FBN2(NM_001999.3):c.7613C>A (p.(Thr2538Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994601" "0" "30" "5" "127611507" "127611507" "subst" "0" "02329" "FBN2_000470" "g.127611507C>T" "" "" "" "FBN2(NM_001999.4):c.7594+223G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994602" "0" "50" "5" "127611828" "127611828" "subst" "1.62673E-5" "01804" "FBN2_000243" "g.127611828G>A" "" "" "" "FBN2(NM_001999.3):c.7496C>T (p.(Pro2499Leu)), FBN2(NM_001999.4):c.7496C>T (p.P2499L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994603" "0" "30" "5" "127622413" "127622413" "subst" "1.21876E-5" "01804" "FBN2_000471" "g.127622413C>T" "" "" "" "FBN2(NM_001999.3):c.7009G>A (p.(Val2337Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994604" "0" "30" "5" "127624898" "127624898" "subst" "1.22115E-5" "02329" "FBN2_000472" "g.127624898T>C" "" "" "" "FBN2(NM_001999.4):c.6558A>G (p.Q2186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994605" "0" "30" "5" "127626513" "127626513" "subst" "0" "01804" "FBN2_000473" "g.127626513A>G" "" "" "" "FBN2(NM_001999.3):c.6356T>C (p.(Phe2119Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994606" "0" "50" "5" "127627248" "127627248" "subst" "0" "01804" "FBN2_000474" "g.127627248G>T" "" "" "" "FBN2(NM_001999.3):c.6265C>A (p.(Leu2089Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994607" "0" "50" "5" "127627260" "127627260" "subst" "0" "01804" "FBN2_000475" "g.127627260G>A" "" "" "" "FBN2(NM_001999.3):c.6253C>T (p.(Pro2085Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994608" "0" "50" "5" "127636611" "127636611" "subst" "4.87932E-5" "01804" "FBN2_000476" "g.127636611C>T" "" "" "" "FBN2(NM_001999.3):c.6064G>A (p.(Ala2022Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994609" "0" "30" "5" "127640782" "127640782" "subst" "3.19254E-5" "01804" "FBN2_000477" "g.127640782A>T" "" "" "" "FBN2(NM_001999.3):c.5675-8T>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994610" "0" "50" "5" "127641284" "127641284" "subst" "4.06451E-6" "01804" "FBN2_000478" "g.127641284C>A" "" "" "" "FBN2(NM_001999.3):c.5593G>T (p.(Ala1865Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994611" "0" "50" "5" "127666348" "127666348" "subst" "0" "01804" "FBN2_000479" "g.127666348A>T" "" "" "" "FBN2(NM_001999.3):c.4262T>A (p.(Ile1421Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994612" "0" "50" "5" "127668723" "127668723" "subst" "1.21994E-5" "02327" "FBN2_000339" "g.127668723A>G" "" "" "" "FBN2(NM_001999.3):c.4103T>C (p.V1368A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994613" "0" "10" "5" "127668831" "127668831" "subst" "0" "02329" "FBN2_000480" "g.127668831G>A" "" "" "" "FBN2(NM_001999.4):c.4100-105C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000994614" "0" "50" "5" "127671715" "127671715" "subst" "0" "01804" "FBN2_000481" "g.127671715C>A" "" "" "" "FBN2(NM_001999.3):c.3689G>T (p.(Gly1230Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994615" "0" "30" "5" "127680098" "127680098" "subst" "2.84326E-5" "01804" "FBN2_000482" "g.127680098T>G" "" "" "" "FBN2(NM_001999.3):c.3322A>C (p.(Met1108Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994616" "0" "50" "5" "127681112" "127681112" "subst" "0" "01804" "FBN2_000483" "g.127681112A>G" "" "" "" "FBN2(NM_001999.3):c.3154T>C (p.(Cys1052Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994617" "0" "50" "5" "127686650" "127686650" "subst" "8.12354E-6" "02329" "FBN2_000308" "g.127686650C>T" "" "" "" "FBN2(NM_001999.3):c.2722G>A (p.E908K), FBN2(NM_001999.4):c.2722G>A (p.(Glu908Lys), p.E908K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994618" "0" "50" "5" "127692967" "127692967" "subst" "0" "01804" "FBN2_000484" "g.127692967C>A" "" "" "" "FBN2(NM_001999.3):c.2674+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994619" "0" "50" "5" "127697491" "127697491" "subst" "0" "02329" "FBN2_000485" "g.127697491G>C" "" "" "" "FBN2(NM_001999.4):c.2479C>G (p.R827G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994620" "0" "30" "5" "127700287" "127700287" "subst" "0.000480237" "01804" "FBN2_000197" "g.127700287A>T" "" "" "" "FBN2(NM_001999.3):c.2428+6T>A (p.?), FBN2(NM_001999.4):c.2428+6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994621" "0" "30" "5" "127700294" "127700294" "subst" "0.000711897" "01804" "FBN2_000119" "g.127700294A>T" "" "" "" "FBN2(NM_001999.3):c.2427T>A (p.I809=, p.(Ile809=)), FBN2(NM_001999.4):c.2427T>A (p.I809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994622" "0" "50" "5" "127710317" "127710317" "subst" "0" "02329" "FBN2_000486" "g.127710317T>G" "" "" "" "FBN2(NM_001999.4):c.2095+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994623" "0" "30" "5" "127727761" "127727761" "subst" "3.66148E-5" "01804" "FBN2_000487" "g.127727761C>T" "" "" "" "FBN2(NM_001999.3):c.1553G>A (p.(Arg518Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994624" "0" "50" "5" "127730830" "127730830" "subst" "3.66119E-5" "01804" "FBN2_000488" "g.127730830G>A" "" "" "" "FBN2(NM_001999.3):c.1216C>T (p.(Pro406Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994625" "0" "50" "5" "127730866" "127730866" "subst" "8.13954E-6" "01804" "FBN2_000489" "g.127730866G>A" "" "" "" "FBN2(NM_001999.3):c.1180C>T (p.(Arg394Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994626" "0" "50" "5" "127800432" "127800432" "subst" "1.22332E-5" "01804" "FBN2_000136" "g.127800432T>G" "" "" "" "FBN2(NM_001999.3):c.811A>C (p.T271P, p.(Thr271Pro)), FBN2(NM_001999.4):c.811A>C (p.T271P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994627" "0" "50" "5" "127800434" "127800434" "subst" "1.63095E-5" "01804" "FBN2_000490" "g.127800434C>A" "" "" "" "FBN2(NM_001999.3):c.809G>T (p.(Arg270Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994628" "0" "30" "5" "127800539" "127800539" "subst" "4.4686E-5" "01804" "FBN2_000491" "g.127800539G>A" "" "" "" "FBN2(NM_001999.3):c.704C>T (p.(Thr235Met)), FBN2(NM_001999.4):c.704C>T (p.T235M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994629" "0" "30" "5" "127800572" "127800572" "subst" "1.21841E-5" "01804" "FBN2_000492" "g.127800572A>G" "" "" "" "FBN2(NM_001999.3):c.671T>C (p.(Met224Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994630" "0" "10" "5" "127866272" "127866272" "subst" "0.000973072" "02329" "FBN2_000493" "g.127866272C>T" "" "" "" "FBN2(NM_001999.4):c.436+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000994631" "0" "50" "5" "127873044" "127873044" "subst" "0" "01804" "FBN2_000217" "g.127873044C>G" "" "" "" "FBN2(NM_001999.3):c.253G>C (p.G85R, p.(Gly85Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994632" "0" "50" "5" "127873139" "127873139" "subst" "3.89162E-5" "01804" "FBN2_000296" "g.127873139C>T" "" "" "" "FBN2(NM_001999.3):c.158G>A (p.G53D, p.(Gly53Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994633" "0" "50" "5" "127873210" "127873210" "subst" "0" "01804" "FBN2_000494" "g.127873210C>A" "" "" "" "FBN2(NM_001999.3):c.87G>T (p.(Gln29His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994634" "0" "50" "5" "127873214" "127873214" "subst" "5.62385E-6" "02329" "FBN2_000495" "g.127873214C>T" "" "" "" "FBN2(NM_001999.4):c.83G>A (p.(Gly28Asp), p.G28D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994635" "0" "50" "5" "127873292" "127873292" "subst" "1.29405E-5" "01804" "FBN2_000496" "g.127873292C>T" "" "" "" "FBN2(NM_001999.3):c.5G>A (p.(Gly2Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007455" "0" "70" "5" "127613674" "127613674" "subst" "4.06544E-6" "00006" "FBN2_000497" "g.127613674G>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs863223587" "0" "" "" "g.128277982G>A" "" "VUS" "" "0001007456" "0" "70" "5" "127637193" "127637193" "subst" "0" "00006" "FBN2_000498" "g.127637193T>C" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_001999.4:c.5927T>C" "" "Germline" "" "" "0" "" "" "g.128301501T>C" "" "VUS" "" "0001007457" "0" "70" "5" "127664405" "127664405" "subst" "0.000438921" "00006" "FBN2_000499" "g.127664405T>C" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs199665922" "0" "" "" "g.128328713T>C" "" "VUS" "" "0001007534" "0" "70" "5" "127685697" "127685697" "subst" "4.06223E-6" "00006" "FBN2_000500" "g.127685697T>C" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_001999.4:c.2813T>C" "" "Germline" "" "" "0" "" "" "g.128350005T>C" "" "VUS" "" "0001007538" "0" "70" "5" "127729059" "127729059" "subst" "0" "00006" "FBN2_000501" "g.127729059C>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs962522833" "0" "" "" "g.128393366C>T" "" "VUS" "" "0001007567" "0" "70" "5" "127664441" "127664441" "subst" "2.03174E-5" "00006" "FBN2_000180" "g.127664441C>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs140812463" "0" "" "" "g.128328749C>T" "" "VUS" "" "0001014054" "0" "50" "5" "127595210" "127595210" "subst" "0" "02329" "FBN2_000502" "g.127595210A>T" "" "" "" "FBN2(NM_001999.4):c.8676T>A (p.D2892E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014055" "0" "30" "5" "127595300" "127595300" "subst" "4.06408E-6" "02329" "FBN2_000503" "g.127595300C>T" "" "" "" "FBN2(NM_001999.4):c.8586G>A (p.K2862=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014056" "0" "30" "5" "127611731" "127611731" "subst" "0.00039877" "02329" "FBN2_000156" "g.127611731T>C" "" "" "" "FBN2(NM_001999.3):c.7593A>G (p.K2531=, p.(=)), FBN2(NM_001999.4):c.7593A>G (p.K2531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014057" "0" "30" "5" "127641495" "127641495" "subst" "2.03232E-5" "02326" "FBN2_000504" "g.127641495A>G" "" "" "" "FBN2(NM_001999.4):c.5548+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014058" "0" "30" "5" "127641615" "127641615" "subst" "0.000821065" "02326" "FBN2_000071" "g.127641615T>C" "" "" "" "FBN2(NM_001999.3):c.5448A>G (p.P1816=), FBN2(NM_001999.4):c.5448A>G (p.P1816=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014059" "0" "50" "5" "127664452" "127664452" "subst" "1.21907E-5" "02329" "FBN2_000390" "g.127664452C>T" "" "" "" "FBN2(NM_001999.4):c.4407G>A (p.P1469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014060" "0" "10" "5" "127670555" "127670555" "subst" "0.000272797" "02329" "FBN2_000505" "g.127670555A>G" "" "" "" "FBN2(NM_001999.4):c.3974-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014061" "0" "70" "5" "127671258" "127671258" "subst" "0" "02329" "FBN2_000506" "g.127671258A>G" "" "" "" "FBN2(NM_001999.4):c.3736T>C (p.C1246R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001014062" "0" "50" "5" "127673704" "127673704" "subst" "0" "02327" "FBN2_000453" "g.127673704G>A" "" "" "" "FBN2(NM_001999.4):c.3583C>T (p.(Arg1195Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014063" "0" "50" "5" "127681204" "127681204" "subst" "8.12242E-6" "02327" "FBN2_000507" "g.127681204C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014064" "0" "30" "5" "127685088" "127685088" "subst" "0.000836752" "02326" "FBN2_000111" "g.127685088G>A" "" "" "" "FBN2(NM_001999.3):c.2940C>T (p.C980=), FBN2(NM_001999.4):c.2940C>T (p.C980=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014065" "0" "30" "5" "127686618" "127686618" "subst" "4.06154E-6" "02329" "FBN2_000508" "g.127686618A>C" "" "" "" "FBN2(NM_001999.4):c.2754T>G (p.S918=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014066" "0" "50" "5" "127710332" "127710332" "subst" "8.13988E-6" "02329" "FBN2_000509" "g.127710332C>T" "" "" "" "FBN2(NM_001999.4):c.2084G>A (p.R695H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014067" "0" "50" "5" "127800480" "127800480" "subst" "4.06388E-6" "02325" "FBN2_000510" "g.127800480G>A" "" "" "" "FBN2(NM_001999.4):c.763C>T (p.P255S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014068" "0" "50" "5" "127800539" "127800539" "subst" "4.4686E-5" "02329" "FBN2_000491" "g.127800539G>A" "" "" "" "FBN2(NM_001999.3):c.704C>T (p.(Thr235Met)), FBN2(NM_001999.4):c.704C>T (p.T235M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014069" "0" "50" "5" "127800571" "127800571" "subst" "2.43696E-5" "02329" "FBN2_000511" "g.127800571C>A" "" "" "" "FBN2(NM_001999.4):c.672G>T (p.M224I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001017812" "0" "50" "5" "127595205" "127595205" "subst" "4.06812E-6" "03779" "FBN2_000512" "g.127595205T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs779659640" "0" "" "" "" "" "VUS" "" "0001022047" "0" "30" "5" "127685088" "127685088" "subst" "0.000836752" "04796" "FBN2_000111" "g.127685088G>A" "" "" "" "" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.128349396G>A" "" "likely benign" "" "0001022049" "0" "50" "5" "127607813" "127607813" "subst" "0" "04796" "FBN2_000024" "g.127607813G>A" "" "" "" "" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.128272121G>A" "" "VUS" "" "0001025006" "0" "10" "5" "127607826" "127607826" "subst" "0.00141886" "02329" "FBN2_000513" "g.127607826C>A" "" "" "" "FBN2(NM_001999.4):c.7841-16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025007" "0" "10" "5" "127609548" "127609548" "subst" "0.00104969" "02329" "FBN2_000514" "g.127609548G>A" "" "" "" "FBN2(NM_001999.4):c.7824C>T (p.T2608=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025008" "0" "30" "5" "127614492" "127614492" "subst" "5.69898E-5" "02325" "FBN2_000515" "g.127614492T>C" "" "" "" "FBN2(NM_001999.4):c.7180A>G (p.I2394V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025009" "0" "30" "5" "127624221" "127624221" "subst" "0.000504254" "02329" "FBN2_000045" "g.127624221C>T" "" "" "" "FBN2(NM_001999.3):c.6666G>A (p.P2222=), FBN2(NM_001999.4):c.6666G>A (p.P2222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025010" "0" "30" "5" "127625569" "127625569" "subst" "0.00384307" "02329" "FBN2_000051" "g.127625569C>T" "" "" "" "FBN2(NM_001999.3):c.6511+5G>A (p.?), FBN2(NM_001999.4):c.6511+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025011" "0" "50" "5" "127637202" "127637202" "subst" "0" "02325" "FBN2_000516" "g.127637202T>A" "" "" "" "FBN2(NM_001999.4):c.5918A>T (p.D1973V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025012" "0" "30" "5" "127641567" "127641567" "subst" "0.00401577" "02329" "FBN2_000069" "g.127641567G>A" "" "" "" "FBN2(NM_001999.3):c.5496C>T (p.(Arg1832=)), FBN2(NM_001999.4):c.5496C>T (p.R1832=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025013" "0" "30" "5" "127666298" "127666298" "subst" "0.00803423" "02329" "FBN2_000087" "g.127666298C>T" "" "" "" "FBN2(NM_001999.3):c.4312G>A (p.E1438K, p.(Glu1438Lys)), FBN2(NM_001999.4):c.4312G>A (p.E1438K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025014" "0" "30" "5" "127668611" "127668611" "subst" "4.06246E-6" "02329" "FBN2_000517" "g.127668611C>T" "" "" "" "FBN2(NM_001999.4):c.4215G>A (p.K1405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025015" "0" "50" "5" "127668685" "127668685" "subst" "0.00369856" "01943" "FBN2_000001" "g.127668685G>T" "" "" "" "FBN2(NM_001999.3):c.4141C>A (p.H1381N, p.(His1381Asn)), FBN2(NM_001999.4):c.4141C>A (p.H1381N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025016" "0" "50" "5" "127671807" "127671807" "del" "0" "02329" "FBN2_000518" "g.127671807del" "" "" "" "FBN2(NM_001999.4):c.3599-2delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025017" "0" "30" "5" "127674608" "127674608" "subst" "2.84379E-5" "02329" "FBN2_000519" "g.127674608G>T" "" "" "" "FBN2(NM_001999.4):c.3472+17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025018" "0" "30" "5" "127680185" "127680185" "subst" "0.000138128" "02326" "FBN2_000108" "g.127680185C>A" "" "" "" "FBN2(NM_001999.3):c.3235G>T (p.A1079S, p.(Ala1079Ser)), FBN2(NM_001999.4):c.3235G>T (p.A1079S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025019" "0" "50" "5" "127712484" "127712484" "subst" "0" "02327" "FBN2_000520" "g.127712484T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025020" "0" "50" "5" "127714467" "127714467" "subst" "2.85295E-5" "02325" "FBN2_000343" "g.127714467T>C" "" "" "" "FBN2(NM_001999.3):c.1720A>G (p.I574V), FBN2(NM_001999.4):c.1720A>G (p.(Ile574Val), p.I574V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025021" "0" "50" "5" "127727713" "127727713" "subst" "4.06726E-6" "02327" "FBN2_000521" "g.127727713A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025022" "0" "30" "5" "127730852" "127730852" "subst" "4.06875E-6" "02329" "FBN2_000522" "g.127730852G>A" "" "" "" "FBN2(NM_001999.4):c.1194C>T (p.I398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025023" "0" "50" "5" "127744405" "127744405" "subst" "0.00430957" "01943" "FBN2_000208" "g.127744405C>T" "" "" "" "FBN2(NM_001999.3):c.1040G>A (p.R347H, p.(Arg347His)), FBN2(NM_001999.4):c.1040G>A (p.R347H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025024" "0" "30" "5" "127744405" "127744405" "subst" "0.00430957" "02329" "FBN2_000208" "g.127744405C>T" "" "" "" "FBN2(NM_001999.3):c.1040G>A (p.R347H, p.(Arg347His)), FBN2(NM_001999.4):c.1040G>A (p.R347H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025025" "0" "30" "5" "127800505" "127800505" "subst" "0.00168204" "02329" "FBN2_000138" "g.127800505C>T" "" "" "" "FBN2(NM_001999.3):c.738G>A (p.A246=, p.(Ala246=)), FBN2(NM_001999.4):c.738G>A (p.A246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025026" "0" "30" "5" "127800515" "127800515" "subst" "0.00959921" "02329" "FBN2_000211" "g.127800515A>G" "" "" "" "FBN2(NM_001999.3):c.728T>C (p.(Ile243Thr)), FBN2(NM_001999.4):c.728T>C (p.I243T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001030156" "0" "50" "5" "127624873" "127624873" "subst" "4.06752E-6" "01164" "FBN2_000523" "g.127624873G>A" "" "PMID: 31506931, 38099230" "" "" "ACMG: PP3_MOD, PS4_SUP, PM2_SUP, PP4" "Germline" "?" "" "" "" "" "g.128289181G>A" "VCV000350767.6" "VUS (!)" "ACMG" "0001034849" "0" "30" "5" "127595153" "127595153" "subst" "0.00596584" "01804" "FBN2_000004" "g.127595153G>C" "" "" "" "FBN2(NM_001999.4):c.8733C>G (p.(Leu2911=), p.L2911=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034850" "0" "30" "5" "127597510" "127597510" "subst" "0.000211459" "02326" "FBN2_000015" "g.127597510G>A" "" "" "" "FBN2(NM_001999.3):c.8282C>T (p.A2761V), FBN2(NM_001999.4):c.8282C>T (p.A2761V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034851" "0" "50" "5" "127597562" "127597562" "subst" "4.0658E-5" "01804" "FBN2_000524" "g.127597562A>C" "" "" "" "FBN2(NM_001999.4):c.8230T>G (p.(Tyr2744Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034852" "0" "30" "5" "127599227" "127599227" "subst" "0.000365776" "01804" "FBN2_000021" "g.127599227G>T" "" "" "" "FBN2(NM_001999.3):c.8082C>A (p.H2694Q), FBN2(NM_001999.4):c.8082C>A (p.(His2694Gln), p.H2694Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034853" "0" "50" "5" "127607792" "127607792" "subst" "2.03188E-5" "01804" "FBN2_000151" "g.127607792C>T" "" "" "" "FBN2(NM_001999.3):c.7859G>A (p.G2620E), FBN2(NM_001999.4):c.7859G>A (p.(Gly2620Glu), p.G2620E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034854" "0" "30" "5" "127609605" "127609605" "subst" "2.03477E-5" "01804" "FBN2_000525" "g.127609605T>C" "" "" "" "FBN2(NM_001999.4):c.7767A>G (p.(Gln2589=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034855" "0" "50" "5" "127610312" "127610312" "subst" "1.21994E-5" "01804" "FBN2_000526" "g.127610312C>T" "" "" "" "FBN2(NM_001999.4):c.7658G>A (p.(Gly2553Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034856" "0" "50" "5" "127610364" "127610364" "subst" "0" "01804" "FBN2_000527" "g.127610364A>G" "" "" "" "FBN2(NM_001999.4):c.7606T>C (p.(Cys2536Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034857" "0" "50" "5" "127614488" "127614488" "subst" "0" "01804" "FBN2_000528" "g.127614488C>T" "" "" "" "FBN2(NM_001999.4):c.7184G>A (p.(Cys2395Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034858" "0" "50" "5" "127627247" "127627247" "subst" "0" "01804" "FBN2_000529" "g.127627247A>G" "" "" "" "FBN2(NM_001999.4):c.6266T>C (p.(Leu2089Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034859" "0" "30" "5" "127640783" "127640783" "del" "0.0148134" "01804" "FBN2_000065" "g.127640783del" "" "" "" "FBN2(NM_001999.4):c.5675-9del, FBN2(NM_001999.4):c.5675-9delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034860" "0" "50" "5" "127645025" "127645025" "subst" "1.21997E-5" "01804" "FBN2_000074" "g.127645025T>C" "" "" "" "FBN2(NM_001999.3):c.5267A>G (p.N1756S), FBN2(NM_001999.4):c.5267A>G (p.(Asn1756Ser), p.N1756S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034861" "0" "50" "5" "127664398" "127664398" "subst" "0" "01804" "FBN2_000530" "g.127664398T>A" "" "" "" "FBN2(NM_001999.4):c.4461A>T (p.(Arg1487Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034862" "0" "30" "5" "127664405" "127664405" "subst" "0.000438921" "01804" "FBN2_000499" "g.127664405T>C" "" "" "" "FBN2(NM_001999.4):c.4454A>G (p.(Asp1485Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034863" "0" "30" "5" "127664820" "127664820" "subst" "0" "01804" "FBN2_000531" "g.127664820A>C" "" "" "" "FBN2(NM_001999.4):c.4346-307T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034864" "0" "30" "5" "127666312" "127666312" "subst" "6.50264E-5" "01804" "FBN2_000229" "g.127666312C>T" "" "" "" "FBN2(NM_001999.4):c.4298G>A (p.(Arg1433His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034865" "0" "30" "5" "127666364" "127666364" "subst" "0.000719278" "01804" "FBN2_000182" "g.127666364T>C" "" "" "" "FBN2(NM_001999.3):c.4246A>G (p.T1416A), FBN2(NM_001999.4):c.4246A>G (p.(Thr1416Ala), p.T1416A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034866" "0" "50" "5" "127671189" "127671189" "subst" "3.6575E-5" "01804" "FBN2_000262" "g.127671189T>C" "" "" "" "FBN2(NM_001999.3):c.3805A>G (p.S1269G), FBN2(NM_001999.4):c.3805A>G (p.(Ser1269Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034867" "0" "50" "5" "127671748" "127671748" "subst" "8.13365E-6" "01804" "FBN2_000532" "g.127671748A>G" "" "" "" "FBN2(NM_001999.4):c.3656T>C (p.(Met1219Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034868" "0" "50" "5" "127674658" "127674658" "subst" "4.06243E-6" "01804" "FBN2_000533" "g.127674658C>T" "" "" "" "FBN2(NM_001999.4):c.3439G>A (p.(Glu1147Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034869" "0" "50" "5" "127681205" "127681205" "subst" "4.87337E-5" "01804" "FBN2_000534" "g.127681205G>A" "" "" "" "FBN2(NM_001999.4):c.3061C>T (p.(Arg1021Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034870" "0" "30" "5" "127685050" "127685050" "subst" "9.34238E-5" "01804" "FBN2_000247" "g.127685050C>T" "" "" "" "FBN2(NM_001999.4):c.2978G>A (p.(Arg993His), p.R993H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034871" "0" "50" "5" "127685697" "127685697" "subst" "4.06223E-6" "01804" "FBN2_000500" "g.127685697T>C" "" "" "" "FBN2(NM_001999.4):c.2813A>G (p.(Asp938Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034872" "0" "50" "5" "127686650" "127686650" "subst" "8.12354E-6" "01804" "FBN2_000308" "g.127686650C>T" "" "" "" "FBN2(NM_001999.3):c.2722G>A (p.E908K), FBN2(NM_001999.4):c.2722G>A (p.(Glu908Lys), p.E908K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034873" "0" "50" "5" "127700358" "127700358" "subst" "0" "01804" "FBN2_000535" "g.127700358C>G" "" "" "" "FBN2(NM_001999.4):c.2363G>C (p.(Arg788Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034874" "0" "30" "5" "127712799" "127712799" "subst" "0" "01804" "FBN2_000536" "g.127712799A>C" "" "" "" "FBN2(NM_001999.4):c.1850-253T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034875" "0" "30" "5" "127714467" "127714467" "subst" "2.85295E-5" "01804" "FBN2_000343" "g.127714467T>C" "" "" "" "FBN2(NM_001999.3):c.1720A>G (p.I574V), FBN2(NM_001999.4):c.1720A>G (p.(Ile574Val), p.I574V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034876" "0" "30" "5" "127714543" "127714543" "subst" "6.11885E-5" "01804" "FBN2_000249" "g.127714543A>C" "" "" "" "FBN2(NM_001999.4):c.1644T>G (p.(Asp548Glu), p.D548E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034877" "0" "50" "5" "127729055" "127729055" "subst" "4.48892E-5" "01804" "FBN2_000326" "g.127729055T>C" "" "" "" "FBN2(NM_001999.4):c.1238A>G (p.(Tyr413Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034878" "0" "50" "5" "127730926" "127730926" "subst" "8.13776E-6" "01804" "FBN2_000537" "g.127730926G>A" "" "" "" "FBN2(NM_001999.4):c.1120C>T (p.(Arg374Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034879" "0" "30" "5" "127744101" "127744101" "subst" "0" "01804" "FBN2_000538" "g.127744101T>A" "" "" "" "FBN2(NM_001999.4):c.1078+266A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034880" "0" "30" "5" "127863664" "127863664" "subst" "0" "01804" "FBN2_000539" "g.127863664C>T" "" "" "" "FBN2(NM_001999.4):c.437-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034881" "0" "50" "5" "127873214" "127873214" "subst" "5.62385E-6" "01804" "FBN2_000495" "g.127873214C>T" "" "" "" "FBN2(NM_001999.4):c.83G>A (p.(Gly28Asp), p.G28D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046009" "0" "30" "5" "127671189" "127671189" "subst" "3.6575E-5" "02327" "FBN2_000262" "g.127671189T>C" "" "" "" "FBN2(NM_001999.3):c.3805A>G (p.S1269G), FBN2(NM_001999.4):c.3805A>G (p.(Ser1269Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052077" "0" "50" "5" "127624130" "127624130" "subst" "0" "02327" "FBN2_000541" "g.127624130C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052078" "0" "30" "5" "127624224" "127624224" "subst" "0" "01804" "FBN2_000542" "g.127624224A>G" "" "" "" "FBN2(NM_001999.4):c.6663T>C (p.(Asn2221=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052079" "0" "30" "5" "127636502" "127636502" "subst" "4.06233E-6" "01804" "FBN2_000543" "g.127636502C>T" "" "" "" "FBN2(NM_001999.4):c.6166+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052080" "0" "50" "5" "127637109" "127637109" "subst" "0" "01804" "FBN2_000544" "g.127637109C>G" "" "" "" "FBN2(NM_001999.4):c.6011G>C (p.(Gly2004Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052081" "0" "30" "5" "127647083" "127647083" "subst" "0.000247865" "01804" "FBN2_000076" "g.127647083G>A" "" "" "" "FBN2(NM_001999.3):c.4983C>T (p.C1661=), FBN2(NM_001999.4):c.4983C>T (p.(Cys1661=), p.C1661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052082" "0" "30" "5" "127647127" "127647127" "subst" "0" "01804" "FBN2_000545" "g.127647127G>A" "" "" "" "FBN2(NM_001999.4):c.4949-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052083" "0" "50" "5" "127668724" "127668724" "subst" "5.28631E-5" "01804" "FBN2_000546" "g.127668724C>T" "" "" "" "FBN2(NM_001999.4):c.4102G>A (p.(Val1368Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052084" "0" "30" "5" "127670535" "127670535" "subst" "8.13087E-6" "01804" "FBN2_000547" "g.127670535A>G" "" "" "" "FBN2(NM_001999.4):c.3975T>C (p.(Asp1325=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052085" "0" "50" "5" "127697463" "127697463" "subst" "4.06141E-6" "01804" "FBN2_000298" "g.127697463G>A" "" "" "" "FBN2(NM_001999.4):c.2507C>T (p.(Thr836Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052086" "0" "50" "5" "127697538" "127697538" "subst" "6.49767E-5" "01804" "FBN2_000548" "g.127697538A>G" "" "" "" "FBN2(NM_001999.4):c.2432T>C (p.(Ile811Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052087" "0" "30" "5" "127704871" "127704871" "subst" "1.62569E-5" "01804" "FBN2_000549" "g.127704871C>G" "" "" "" "FBN2(NM_001999.4):c.2248+4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052088" "0" "50" "5" "127800487" "127800487" "subst" "4.06359E-6" "01804" "FBN2_000137" "g.127800487C>A" "" "" "" "FBN2(NM_001999.3):c.756G>T (p.E252D), FBN2(NM_001999.4):c.756G>T (p.(Glu252Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052089" "0" "50" "5" "127873127" "127873127" "subst" "0" "01804" "FBN2_000550" "g.127873127C>A" "" "" "" "FBN2(NM_001999.4):c.170G>T (p.(Gly57Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FBN2 ## Count = 852 "{{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}}" "0000079500" "00007762" "00" "-8388608" "0" "3775362" "0" "c.-17843989_*3766623dup" "" "" "" "0000096982" "00007762" "50" "4141" "0" "4141" "0" "c.4141C>A" "r.(?)" "p.(His1381Asn)" "32" "0000168859" "00007762" "50" "7296" "0" "7296" "0" "c.7296G>T" "r.(?)" "p.(Gln2432His)" "57" "0000222896" "00007762" "90" "3974" "-26" "3974" "-26" "c.3974-26T>G" "r.3974_4099del" "p.Asn1327_Val1368del" "30i" "0000247891" "00007762" "10" "7200" "0" "7200" "0" "c.7200T>C" "r.(?)" "p.(Ser2400=)" "" "0000249747" "00007762" "50" "5921" "0" "5921" "0" "c.5921T>C" "r.(?)" "p.(Ile1974Thr)" "" "0000249869" "00007762" "10" "7200" "0" "7200" "0" "c.7200T>C" "r.(?)" "p.(Ser2400=)" "" "0000249949" "00007762" "30" "953" "-8" "953" "-8" "c.953-8T>G" "r.(=)" "p.(=)" "" "0000249952" "00007762" "10" "2427" "0" "2427" "0" "c.2427T>A" "r.(?)" "p.(Ile809=)" "" "0000250094" "00007762" "10" "5823" "0" "5823" "0" "c.5823T>C" "r.(?)" "p.(His1941=)" "" "0000250199" "00007762" "10" "7013" "-5" "7013" "-5" "c.7013-5T>C" "r.spl?" "p.?" "" "0000250200" "00007762" "10" "4718" "-13" "4718" "-13" "c.4718-13T>C" "r.(=)" "p.(=)" "" "0000250281" "00007762" "30" "7065" "0" "7065" "0" "c.7065T>G" "r.(?)" "p.(Val2355=)" "" "0000250282" "00007762" "30" "1902" "0" "1902" "0" "c.1902T>C" "r.(?)" "p.(Asn634=)" "" "0000250283" "00007762" "30" "957" "0" "957" "0" "c.957T>C" "r.(?)" "p.(Ile319=)" "" "0000250427" "00007762" "30" "7712" "-17" "7712" "-17" "c.7712-17T>C" "r.(=)" "p.(=)" "" "0000250428" "00007762" "30" "7594" "15" "7594" "15" "c.7594+15T>A" "r.(=)" "p.(=)" "" "0000250429" "00007762" "30" "5674" "18" "5674" "18" "c.5674+18T>G" "r.(=)" "p.(=)" "" "0000250430" "00007762" "30" "4472" "-12" "4472" "-12" "c.4472-12del" "r.(=)" "p.(=)" "" "0000250431" "00007762" "30" "4472" "-18" "4472" "-18" "c.4472-18T>A" "r.(=)" "p.(=)" "" "0000250764" "00007762" "30" "953" "-8" "953" "-8" "c.953-8T>G" "r.(=)" "p.(=)" "" "0000253093" "00007762" "10" "7200" "0" "7200" "0" "c.7200T>C" "r.(?)" "p.(Ser2400=)" "" "0000253983" "00007762" "30" "953" "-8" "953" "-8" "c.953-8T>G" "r.(=)" "p.(=)" "" "0000254043" "00007762" "30" "2427" "0" "2427" "0" "c.2427T>A" "r.(?)" "p.(Ile809=)" "" "0000254317" "00007762" "30" "2625" "0" "2625" "0" "c.2625T>C" "r.(?)" "p.(Cys875=)" "" "0000255154" "00007762" "30" "522" "0" "522" "0" "c.522T>C" "r.(?)" "p.(Tyr174=)" "" "0000255996" "00007762" "50" "3660" "0" "3660" "0" "c.3660T>G" "r.(?)" "p.(Ile1220Met)" "" "0000256314" "00007762" "50" "8396" "0" "8396" "0" "c.8396T>C" "r.(?)" "p.(Met2799Thr)" "" "0000280736" "00007762" "10" "2893" "0" "2893" "0" "c.2893G>A" "r.(?)" "p.(Val965Ile)" "" "0000280737" "00007762" "50" "4495" "0" "4495" "0" "c.4495A>C" "r.(?)" "p.(Asn1499His)" "" "0000280738" "00007762" "10" "5675" "-9" "5675" "-9" "c.5675-9C>T" "r.(=)" "p.(=)" "" "0000280739" "00007762" "50" "5922" "0" "5922" "0" "c.5922A>G" "r.(?)" "p.(Ile1974Met)" "" "0000280740" "00007762" "10" "6880" "17" "6880" "17" "c.6880+17G>A" "r.(=)" "p.(=)" "" "0000280741" "00007762" "10" "952" "4177" "952" "4177" "c.952+4177C>T" "r.(=)" "p.(=)" "" "0000283084" "00007762" "30" "110" "0" "110" "0" "c.110C>A" "r.(?)" "p.(Pro37Gln)" "" "0000283085" "00007762" "10" "111" "0" "111" "0" "c.111G>A" "r.(?)" "p.(Pro37=)" "" "0000283086" "00007762" "10" "1466" "-5" "1466" "-5" "c.1466-5C>T" "r.spl?" "p.?" "" "0000283087" "00007762" "10" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Ala68Val)" "" "0000283088" "00007762" "70" "2095" "4" "2095" "4" "c.2095+4del" "r.spl?" "p.?" "" "0000283089" "00007762" "30" "2508" "0" "2508" "0" "c.2508G>A" "r.(?)" "p.(Thr836=)" "" "0000283090" "00007762" "70" "2762" "0" "2762" "0" "c.2762G>A" "r.(?)" "p.(Cys921Tyr)" "" "0000283091" "00007762" "10" "2893" "0" "2893" "0" "c.2893G>A" "r.(?)" "p.(Val965Ile)" "" "0000283092" "00007762" "10" "2940" "0" "2940" "0" "c.2940C>T" "r.(?)" "p.(Cys980=)" "" "0000283093" "00007762" "10" "3015" "0" "3015" "0" "c.3015G>A" "r.(?)" "p.(Leu1005=)" "" "0000283094" "00007762" "30" "3246" "0" "3246" "0" "c.3246G>A" "r.(?)" "p.(Gly1082=)" "" "0000283095" "00007762" "50" "3280" "0" "3280" "0" "c.3280G>A" "r.(?)" "p.(Gly1094Arg)" "" "0000283096" "00007762" "90" "3467" "0" "3467" "0" "c.3467G>C" "r.(?)" "p.(Cys1156Ser)" "" "0000283097" "00007762" "10" "3762" "0" "3762" "0" "c.3762C>T" "r.(?)" "p.(Asp1254=)" "" "0000283098" "00007762" "10" "3848" "-10" "3848" "-10" "c.3848-10G>T" "r.(=)" "p.(=)" "" "0000283099" "00007762" "10" "4098" "0" "4098" "0" "c.4098A>C" "r.(?)" "p.(Thr1366=)" "" "0000283100" "00007762" "30" "4206" "0" "4206" "0" "c.4206C>T" "r.(?)" "p.(Asn1402=)" "" "0000283101" "00007762" "10" "4222" "12" "4222" "12" "c.4222+12A>G" "r.(=)" "p.(=)" "" "0000283102" "00007762" "30" "4311" "0" "4311" "0" "c.4311C>T" "r.(?)" "p.(Ser1437=)" "" "0000283103" "00007762" "10" "4595" "-11" "4595" "-11" "c.4595-11G>C" "r.(=)" "p.(=)" "" "0000283104" "00007762" "30" "4983" "0" "4983" "0" "c.4983C>T" "r.(?)" "p.(Cys1661=)" "" "0000283105" "00007762" "30" "5004" "0" "5004" "0" "c.5004C>T" "r.(?)" "p.(Asn1668=)" "" "0000283106" "00007762" "10" "5353" "19" "5353" "19" "c.5353+19C>T" "r.(=)" "p.(=)" "" "0000283107" "00007762" "10" "5448" "0" "5448" "0" "c.5448A>G" "r.(?)" "p.(Pro1816=)" "" "0000283108" "00007762" "30" "5674" "7" "5674" "7" "c.5674+7A>G" "r.(=)" "p.(=)" "" "0000283109" "00007762" "10" "5675" "-9" "5675" "-9" "c.5675-9C>T" "r.(=)" "p.(=)" "" "0000283110" "00007762" "10" "5675" "-9" "5675" "-9" "c.5675-9del" "r.(=)" "p.(=)" "" "0000283111" "00007762" "30" "6057" "0" "6057" "0" "c.6057G>A" "r.(?)" "p.(Glu2019=)" "" "0000283112" "00007762" "10" "6292" "12" "6292" "12" "c.6292+12C>A" "r.(=)" "p.(=)" "" "0000283113" "00007762" "10" "6511" "15" "6511" "15" "c.6511+15A>G" "r.(=)" "p.(=)" "" "0000283114" "00007762" "10" "6512" "-17" "6512" "-17" "c.6512-17G>C" "r.(=)" "p.(=)" "" "0000283115" "00007762" "10" "6615" "0" "6615" "0" "c.6615C>T" "r.(?)" "p.(Asp2205=)" "" "0000283116" "00007762" "10" "6880" "17" "6880" "17" "c.6880+17G>A" "r.(=)" "p.(=)" "" "0000283117" "00007762" "10" "6931" "0" "6931" "0" "c.6931A>G" "r.(?)" "p.(Met2311Val)" "" "0000283118" "00007762" "30" "7380" "0" "7380" "0" "c.7380C>T" "r.(?)" "p.(Cys2460=)" "" "0000283119" "00007762" "30" "7471" "6" "7471" "6" "c.7471+6G>A" "r.(=)" "p.(=)" "" "0000283120" "00007762" "30" "7575" "0" "7575" "0" "c.7575G>A" "r.(?)" "p.(Glu2525=)" "" "0000283121" "00007762" "10" "7650" "0" "7650" "0" "c.7650C>G" "r.(?)" "p.(Thr2550=)" "" "0000283122" "00007762" "10" "7739" "0" "7739" "0" "c.7739C>T" "r.(?)" "p.(Ser2580Leu)" "" "0000283123" "00007762" "10" "8304" "0" "8304" "0" "c.8304C>T" "r.(?)" "p.(Asn2768=)" "" "0000283124" "00007762" "30" "8347" "0" "8347" "0" "c.8347G>C" "r.(?)" "p.(Glu2783Gln)" "" "0000283125" "00007762" "10" "8364" "7" "8364" "7" "c.8364+7A>T" "r.(=)" "p.(=)" "" "0000283126" "00007762" "30" "8520" "0" "8520" "0" "c.8520C>T" "r.(?)" "p.(Asn2840=)" "" "0000283127" "00007762" "10" "8733" "0" "8733" "0" "c.8733C>G" "r.(?)" "p.(Leu2911=)" "" "0000283128" "00007762" "10" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Pro326Ser)" "" "0000283872" "00007762" "10" "111" "0" "111" "0" "c.111G>A" "r.(?)" "p.(Pro37=)" "" "0000283873" "00007762" "10" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Ala68Val)" "" "0000283874" "00007762" "30" "2555" "-7" "2555" "-7" "c.2555-7A>G" "r.(=)" "p.(=)" "" "0000283875" "00007762" "10" "3015" "0" "3015" "0" "c.3015G>A" "r.(?)" "p.(Leu1005=)" "" "0000283876" "00007762" "10" "3973" "52" "3973" "52" "c.3973+52C>G" "r.(=)" "p.(=)" "" "0000283877" "00007762" "10" "3974" "-67" "3974" "-67" "c.3974-67G>A" "r.(=)" "p.(=)" "" "0000283878" "00007762" "70" "4136" "0" "4136" "0" "c.4136A>T" "r.(?)" "p.(Asp1379Val)" "" "0000283879" "00007762" "30" "4312" "0" "4312" "0" "c.4312G>A" "r.(?)" "p.(Glu1438Lys)" "" "0000283880" "00007762" "10" "5353" "19" "5353" "19" "c.5353+19C>T" "r.(=)" "p.(=)" "" "0000283881" "00007762" "10" "5496" "0" "5496" "0" "c.5496C>T" "r.(?)" "p.(Arg1832=)" "" "0000283882" "00007762" "10" "5674" "7" "5674" "7" "c.5674+7A>G" "r.(=)" "p.(=)" "" "0000283883" "00007762" "10" "5675" "-9" "5675" "-9" "c.5675-9C>T" "r.(=)" "p.(=)" "" "0000283884" "00007762" "30" "6167" "-4" "6167" "-4" "c.6167-4G>T" "r.spl?" "p.?" "" "0000283885" "00007762" "10" "6292" "12" "6292" "12" "c.6292+12C>A" "r.(=)" "p.(=)" "" "0000283886" "00007762" "30" "6511" "5" "6511" "5" "c.6511+5G>A" "r.spl?" "p.?" "" "0000283887" "00007762" "10" "6637" "39" "6637" "39" "c.6637+39A>G" "r.(=)" "p.(=)" "" "0000283888" "00007762" "30" "7012" "7" "7012" "7" "c.7012+7G>A" "r.(=)" "p.(=)" "" "0000283889" "00007762" "10" "7380" "0" "7380" "0" "c.7380C>T" "r.(?)" "p.(Cys2460=)" "" "0000283890" "00007762" "10" "738" "0" "738" "0" "c.738G>A" "r.(?)" "p.(Ala246=)" "" "0000283891" "00007762" "50" "811" "0" "811" "0" "c.811A>C" "r.(?)" "p.(Thr271Pro)" "" "0000283892" "00007762" "30" "8257" "0" "8257" "0" "c.8257G>A" "r.(?)" "p.(Glu2753Lys)" "" "0000283893" "00007762" "10" "8364" "7" "8364" "7" "c.8364+7A>T" "r.(=)" "p.(=)" "" "0000283894" "00007762" "30" "8537" "0" "8537" "0" "c.8537G>A" "r.(?)" "p.(Arg2846His)" "" "0000283895" "00007762" "10" "952" "141" "952" "141" "c.952+141A>C" "r.(=)" "p.(=)" "" "0000283896" "00007762" "10" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Pro326Ser)" "" "0000287265" "00007762" "30" "1011" "0" "1011" "0" "c.1011C>T" "r.(?)" "p.(Thr337=)" "" "0000287266" "00007762" "30" "110" "0" "110" "0" "c.110C>A" "r.(?)" "p.(Pro37Gln)" "" "0000287267" "00007762" "50" "132" "0" "132" "0" "c.132G>C" "r.(?)" "p.(Pro44=)" "" "0000287268" "00007762" "50" "1435" "0" "1435" "0" "c.1435G>A" "r.(?)" "p.(Gly479Arg)" "" "0000287269" "00007762" "50" "1453" "0" "1453" "0" "c.1453A>G" "r.(?)" "p.(Ile485Val)" "" "0000287270" "00007762" "50" "1592" "0" "1592" "0" "c.1592G>C" "r.(?)" "p.(Gly531Ala)" "" "0000287271" "00007762" "30" "1850" "-9" "1850" "-9" "c.1850-9C>T" "r.(=)" "p.(=)" "" "0000287272" "00007762" "30" "195" "0" "195" "0" "c.195G>A" "r.(?)" "p.(Glu65=)" "" "0000287273" "00007762" "30" "2555" "-7" "2555" "-7" "c.2555-7A>G" "r.(=)" "p.(=)" "" "0000287274" "00007762" "30" "2555" "-8" "2555" "-8" "c.2555-8G>T" "r.(=)" "p.(=)" "" "0000287275" "00007762" "10" "2893" "0" "2893" "0" "c.2893G>A" "r.(?)" "p.(Val965Ile)" "" "0000287276" "00007762" "30" "2940" "0" "2940" "0" "c.2940C>T" "r.(?)" "p.(Cys980=)" "" "0000287277" "00007762" "30" "3036" "0" "3036" "0" "c.3036C>T" "r.(?)" "p.(Cys1012=)" "" "0000287278" "00007762" "30" "3235" "0" "3235" "0" "c.3235G>T" "r.(?)" "p.(Ala1079Ser)" "" "0000287279" "00007762" "50" "3236" "0" "3236" "0" "c.3236C>T" "r.(?)" "p.(Ala1079Val)" "" "0000287280" "00007762" "50" "3290" "0" "3290" "0" "c.3290A>C" "r.(?)" "p.(Lys1097Thr)" "" "0000287281" "00007762" "50" "3296" "0" "3296" "0" "c.3296G>A" "r.(?)" "p.(Arg1099His)" "" "0000287282" "00007762" "50" "3661" "0" "3661" "0" "c.3661G>A" "r.(?)" "p.(Gly1221Arg)" "" "0000287283" "00007762" "30" "3993" "0" "3993" "0" "c.3993A>G" "r.(?)" "p.(Leu1331=)" "" "0000287284" "00007762" "10" "4312" "0" "4312" "0" "c.4312G>A" "r.(?)" "p.(Glu1438Lys)" "" "0000287285" "00007762" "50" "4642" "0" "4642" "0" "c.4642G>A" "r.(?)" "p.(Val1548Ile)" "" "0000287286" "00007762" "30" "4647" "0" "4647" "0" "c.4647C>T" "r.(?)" "p.(Asn1549=)" "" "0000287287" "00007762" "30" "4785" "0" "4785" "0" "c.4785C>T" "r.(?)" "p.(Thr1595=)" "" "0000287288" "00007762" "30" "4791" "0" "4791" "0" "c.4791C>T" "r.(?)" "p.(Ile1597=)" "" "0000287289" "00007762" "30" "4983" "0" "4983" "0" "c.4983C>T" "r.(?)" "p.(Cys1661=)" "" "0000287290" "00007762" "50" "5267" "0" "5267" "0" "c.5267A>G" "r.(?)" "p.(Asn1756Ser)" "" "0000287291" "00007762" "50" "5275" "0" "5275" "0" "c.5275A>C" "r.(?)" "p.(Lys1759Gln)" "" "0000287292" "00007762" "30" "5448" "0" "5448" "0" "c.5448A>G" "r.(?)" "p.(Pro1816=)" "" "0000287293" "00007762" "50" "5473" "0" "5473" "0" "c.5473A>G" "r.(?)" "p.(Ile1825Val)" "" "0000287294" "00007762" "50" "5500" "0" "5500" "0" "c.5500G>A" "r.(?)" "p.(Glu1834Lys)" "" "0000287295" "00007762" "10" "5675" "-9" "5675" "-9" "c.5675-9C>T" "r.(=)" "p.(=)" "" "0000287296" "00007762" "30" "5787" "0" "5787" "0" "c.5787G>A" "r.(?)" "p.(Gln1929=)" "" "0000287297" "00007762" "30" "5800" "10" "5800" "10" "c.5800+10G>A" "r.(=)" "p.(=)" "" "0000287298" "00007762" "50" "6005" "0" "6005" "0" "c.6005A>G" "r.(?)" "p.(Asn2002Ser)" "" "0000287299" "00007762" "50" "6349" "0" "6349" "0" "c.6349A>G" "r.(?)" "p.(Lys2117Glu)" "" "0000287300" "00007762" "50" "6353" "0" "6353" "0" "c.6353C>T" "r.(?)" "p.(Ala2118Val)" "" "0000287301" "00007762" "50" "6526" "0" "6526" "0" "c.6526C>T" "r.(?)" "p.(Leu2176Phe)" "" "0000287302" "00007762" "30" "6666" "0" "6666" "0" "c.6666G>A" "r.(?)" "p.(Pro2222=)" "" "0000287303" "00007762" "30" "6841" "0" "6841" "0" "c.6841A>T" "r.(?)" "p.(Ile2281Phe)" "" "0000287304" "00007762" "70" "6857" "0" "6857" "0" "c.6857G>A" "r.(?)" "p.(Arg2286Lys)" "" "0000287305" "00007762" "50" "6946" "0" "6946" "0" "c.6946A>T" "r.(?)" "p.(Ile2316Phe)" "" "0000287306" "00007762" "30" "7012" "7" "7012" "7" "c.7012+7G>A" "r.(=)" "p.(=)" "" "0000287307" "00007762" "30" "738" "0" "738" "0" "c.738G>A" "r.(?)" "p.(Ala246=)" "" "0000287308" "00007762" "50" "756" "0" "756" "0" "c.756G>T" "r.(?)" "p.(Glu252Asp)" "" "0000287309" "00007762" "30" "7595" "-8" "7595" "-8" "c.7595-8A>G" "r.(=)" "p.(=)" "" "0000287310" "00007762" "30" "7638" "0" "7638" "0" "c.7638C>G" "r.(?)" "p.(Leu2546=)" "" "0000287311" "00007762" "10" "7739" "0" "7739" "0" "c.7739C>T" "r.(?)" "p.(Ser2580Leu)" "" "0000287312" "00007762" "50" "7841" "-3" "7841" "-3" "c.7841-3C>T" "r.spl?" "p.?" "" "0000287313" "00007762" "50" "7877" "0" "7877" "0" "c.7877A>G" "r.(?)" "p.(His2626Arg)" "" "0000287314" "00007762" "30" "8049" "0" "8049" "0" "c.8049G>A" "r.(?)" "p.(Gly2683=)" "" "0000287315" "00007762" "50" "8082" "0" "8082" "0" "c.8082C>A" "r.(?)" "p.(His2694Gln)" "" "0000287316" "00007762" "30" "8100" "0" "8100" "0" "c.8100G>A" "r.(?)" "p.(Ser2700=)" "" "0000287317" "00007762" "50" "8143" "0" "8143" "0" "c.8143G>C" "r.(?)" "p.(Gly2715Arg)" "" "0000287318" "00007762" "10" "8154" "0" "8154" "0" "c.8154C>T" "r.(?)" "p.(Leu2718=)" "" "0000287319" "00007762" "30" "8282" "0" "8282" "0" "c.8282C>T" "r.(?)" "p.(Ala2761Val)" "" "0000287320" "00007762" "30" "8304" "0" "8304" "0" "c.8304C>T" "r.(?)" "p.(Asn2768=)" "" "0000287321" "00007762" "10" "8351" "0" "8351" "0" "c.8351C>T" "r.(?)" "p.(Pro2784Leu)" "" "0000287322" "00007762" "30" "8364" "7" "8364" "7" "c.8364+7A>T" "r.(=)" "p.(=)" "" "0000287323" "00007762" "30" "8376" "0" "8376" "0" "c.8376C>G" "r.(?)" "p.(Ile2792Met)" "" "0000287324" "00007762" "30" "8469" "0" "8469" "0" "c.8469C>T" "r.(?)" "p.(Pro2823=)" "" "0000287325" "00007762" "50" "8596" "0" "8596" "0" "c.8596G>A" "r.(?)" "p.(Gly2866Ser)" "" "0000287326" "00007762" "50" "884" "0" "884" "0" "c.884C>T" "r.(?)" "p.(Thr295Ile)" "" "0000287327" "00007762" "30" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Pro326Ser)" "" "0000330502" "00007762" "30" "6982" "0" "6982" "0" "c.6982G>T" "r.(?)" "p.(Ala2328Ser)" "" "0000330503" "00007762" "30" "6881" "-4" "6881" "-4" "c.6881-4C>G" "r.spl?" "p.?" "" "0000330504" "00007762" "30" "6166" "8" "6166" "8" "c.6166+8T>C" "r.(=)" "p.(=)" "" "0000330505" "00007762" "50" "4651" "0" "4651" "0" "c.4651C>G" "r.(?)" "p.(Pro1551Ala)" "" "0000330506" "00007762" "30" "4312" "0" "4312" "0" "c.4312G>A" "r.(?)" "p.(Glu1438Lys)" "" "0000330508" "00007762" "30" "4141" "0" "4141" "0" "c.4141C>A" "r.(?)" "p.(His1381Asn)" "" "0000330509" "00007762" "30" "4098" "0" "4098" "0" "c.4098A>C" "r.(?)" "p.(Thr1366=)" "" "0000330512" "00007762" "30" "2260" "0" "2260" "0" "c.2260G>A" "r.(?)" "p.(Gly754Ser)" "" "0000330513" "00007762" "50" "1769" "0" "1769" "0" "c.1769G>A" "r.(?)" "p.(Arg590Gln)" "" "0000346747" "00007762" "50" "1484" "0" "1484" "0" "c.1484T>C" "r.(?)" "p.(Ile495Thr)" "" "0000358054" "00007762" "70" "5962" "0" "5962" "0" "c.5962G>T" "r.(?)" "p.(Gly1988*)" "" "0000459776" "00007762" "90" "1064" "0" "1064" "0" "c.1064G>A" "r.(?)" "p.(Gly355Asp)" "" "0000498178" "00007762" "70" "4595" "0" "4595" "0" "c.4595A>G" "r.(4595a>g)" "p.(Asp1532Gly)" "36" "0000523985" "00007762" "30" "8520" "0" "8520" "0" "c.8520C>T" "r.(?)" "p.(Asn2840=)" "" "0000523986" "00007762" "30" "8351" "0" "8351" "0" "c.8351C>T" "r.(?)" "p.(Pro2784Leu)" "" "0000523987" "00007762" "30" "8347" "0" "8347" "0" "c.8347G>C" "r.(?)" "p.(Glu2783Gln)" "" "0000523988" "00007762" "10" "8274" "0" "8274" "0" "c.8274C>T" "r.(?)" "p.(Ser2758=)" "" "0000523989" "00007762" "10" "8274" "0" "8274" "0" "c.8274C>T" "r.(?)" "p.(Ser2758=)" "" "0000523990" "00007762" "30" "8257" "0" "8257" "0" "c.8257G>A" "r.(?)" "p.(Glu2753Lys)" "" "0000523991" "00007762" "30" "8049" "0" "8049" "0" "c.8049G>A" "r.(?)" "p.(Gly2683=)" "" "0000523992" "00007762" "50" "7960" "3" "7960" "3" "c.7960+3G>T" "r.spl?" "p.?" "" "0000523993" "00007762" "50" "7859" "0" "7859" "0" "c.7859G>A" "r.(?)" "p.(Gly2620Glu)" "" "0000523994" "00007762" "50" "7727" "0" "7727" "0" "c.7727G>T" "r.(?)" "p.(Gly2576Val)" "" "0000523995" "00007762" "50" "7723" "0" "7723" "0" "c.7723T>C" "r.(?)" "p.(Cys2575Arg)" "" "0000523996" "00007762" "50" "7690" "0" "7690" "0" "c.7690C>G" "r.(?)" "p.(Gln2564Glu)" "" "0000523997" "00007762" "50" "7676" "0" "7676" "0" "c.7676C>T" "r.(?)" "p.(Pro2559Leu)" "" "0000523998" "00007762" "30" "7593" "0" "7593" "0" "c.7593A>G" "r.(?)" "p.(Lys2531=)" "" "0000523999" "00007762" "70" "7526" "0" "7527" "0" "c.7526_7527del" "r.(?)" "p.(Thr2509ArgfsTer25)" "" "0000524000" "00007762" "30" "7418" "0" "7418" "0" "c.7418G>T" "r.(?)" "p.(Arg2473Leu)" "" "0000524002" "00007762" "30" "7385" "0" "7385" "0" "c.7385A>G" "r.(?)" "p.(Asn2462Ser)" "" "0000524003" "00007762" "10" "7296" "0" "7296" "0" "c.7296G>T" "r.(?)" "p.(Gln2432His)" "" "0000524004" "00007762" "50" "7181" "0" "7181" "0" "c.7181T>C" "r.(?)" "p.(Ile2394Thr)" "" "0000524005" "00007762" "30" "7181" "0" "7181" "0" "c.7181T>C" "r.(?)" "p.(Ile2394Thr)" "" "0000524006" "00007762" "30" "7181" "0" "7181" "0" "c.7181T>C" "r.(?)" "p.(Ile2394Thr)" "" "0000524007" "00007762" "30" "7181" "0" "7181" "0" "c.7181T>C" "r.(?)" "p.(Ile2394Thr)" "" "0000524008" "00007762" "30" "7012" "7" "7012" "7" "c.7012+7G>A" "r.(=)" "p.(=)" "" "0000524009" "00007762" "10" "6948" "0" "6948" "0" "c.6948C>A" "r.(?)" "p.(Ile2316=)" "" "0000524010" "00007762" "10" "6948" "0" "6948" "0" "c.6948C>A" "r.(?)" "p.(Ile2316=)" "" "0000524011" "00007762" "30" "6841" "0" "6841" "0" "c.6841A>T" "r.(?)" "p.(Ile2281Phe)" "" "0000524012" "00007762" "50" "6833" "0" "6833" "0" "c.6833C>T" "r.(?)" "p.(Thr2278Met)" "" "0000524013" "00007762" "50" "6764" "0" "6764" "0" "c.6764A>G" "r.(?)" "p.(Asn2255Ser)" "" "0000524014" "00007762" "50" "6682" "0" "6682" "0" "c.6682T>C" "r.(?)" "p.(Cys2228Arg)" "" "0000524015" "00007762" "30" "6666" "0" "6666" "0" "c.6666G>A" "r.(?)" "p.(Pro2222=)" "" "0000524016" "00007762" "30" "6655" "0" "6655" "0" "c.6655A>G" "r.(?)" "p.(Ile2219Val)" "" "0000524017" "00007762" "30" "6511" "5" "6511" "5" "c.6511+5G>A" "r.spl?" "p.?" "" "0000524018" "00007762" "30" "6057" "0" "6057" "0" "c.6057G>A" "r.(?)" "p.(Glu2019=)" "" "0000524019" "00007762" "50" "6055" "0" "6055" "0" "c.6055G>A" "r.(?)" "p.(Glu2019Lys)" "" "0000524020" "00007762" "10" "6000" "0" "6000" "0" "c.6000A>G" "r.(?)" "p.(Leu2000=)" "" "0000524021" "00007762" "50" "5966" "0" "5966" "0" "c.5966G>A" "r.(?)" "p.(Arg1989His)" "" "0000524022" "00007762" "30" "5675" "-12" "5675" "-11" "c.5675-12_5675-11insG" "r.(=)" "p.(=)" "" "0000524023" "00007762" "30" "5674" "7" "5674" "7" "c.5674+7A>G" "r.(=)" "p.(=)" "" "0000524024" "00007762" "50" "5635" "0" "5635" "0" "c.5635G>A" "r.(?)" "p.(Ala1879Thr)" "" "0000524025" "00007762" "50" "5624" "0" "5624" "0" "c.5624G>A" "r.(?)" "p.(Arg1875His)" "" "0000524026" "00007762" "50" "5339" "0" "5339" "0" "c.5339C>G" "r.(?)" "p.(Pro1780Arg)" "" "0000524029" "00007762" "50" "5015" "0" "5015" "0" "c.5015G>A" "r.(?)" "p.(Ser1672Asn)" "" "0000524030" "00007762" "50" "4999" "0" "4999" "0" "c.4999A>G" "r.(?)" "p.(Ile1667Val)" "" "0000524031" "00007762" "30" "4983" "0" "4983" "0" "c.4983C>T" "r.(?)" "p.(Cys1661=)" "" "0000524032" "00007762" "30" "4717" "15" "4717" "15" "c.4717+15A>G" "r.(=)" "p.(=)" "" "0000524033" "00007762" "30" "4647" "0" "4647" "0" "c.4647C>T" "r.(?)" "p.(Asn1549=)" "" "0000524034" "00007762" "30" "4595" "-19" "4595" "-19" "c.4595-19T>C" "r.(=)" "p.(=)" "" "0000524035" "00007762" "30" "4594" "129" "4594" "129" "c.4594+129A>G" "r.(=)" "p.(=)" "" "0000524036" "00007762" "50" "4418" "0" "4418" "0" "c.4418G>A" "r.(?)" "p.(Arg1473His)" "" "0000524037" "00007762" "30" "4259" "0" "4259" "0" "c.4259G>A" "r.(?)" "p.(Ser1420Asn)" "" "0000524038" "00007762" "50" "4246" "0" "4246" "0" "c.4246A>G" "r.(?)" "p.(Thr1416Ala)" "" "0000524039" "00007762" "30" "4246" "0" "4246" "0" "c.4246A>G" "r.(?)" "p.(Thr1416Ala)" "" "0000524040" "00007762" "30" "4141" "0" "4141" "0" "c.4141C>A" "r.(?)" "p.(His1381Asn)" "" "0000524041" "00007762" "10" "4141" "0" "4141" "0" "c.4141C>A" "r.(?)" "p.(His1381Asn)" "" "0000524042" "00007762" "90" "4132" "0" "4132" "0" "c.4132T>A" "r.(?)" "p.(Cys1378Ser)" "" "0000524043" "00007762" "50" "4001" "0" "4001" "0" "c.4001A>G" "r.(?)" "p.(Asn1334Ser)" "" "0000524044" "00007762" "70" "3889" "0" "3889" "0" "c.3889G>A" "r.(?)" "p.(Gly1297Ser)" "" "0000524045" "00007762" "50" "3812" "0" "3812" "0" "c.3812G>C" "r.(?)" "p.(Gly1271Ala)" "" "0000524046" "00007762" "30" "3767" "0" "3767" "0" "c.3767A>G" "r.(?)" "p.(Gln1256Arg)" "" "0000524047" "00007762" "30" "3660" "0" "3660" "0" "c.3660T>G" "r.(?)" "p.(Ile1220Met)" "" "0000524048" "00007762" "50" "3660" "0" "3660" "0" "c.3660T>G" "r.(?)" "p.(Ile1220Met)" "" "0000524049" "00007762" "30" "3655" "0" "3655" "0" "c.3655A>G" "r.(?)" "p.(Met1219Val)" "" "0000524050" "00007762" "30" "3609" "0" "3609" "0" "c.3609A>G" "r.(?)" "p.(Glu1203=)" "" "0000524051" "00007762" "30" "3468" "0" "3468" "0" "c.3468C>T" "r.(?)" "p.(Cys1156=)" "" "0000524052" "00007762" "50" "3394" "0" "3394" "0" "c.3394G>A" "r.(?)" "p.(Val1132Ile)" "" "0000524053" "00007762" "30" "3394" "0" "3394" "0" "c.3394G>A" "r.(?)" "p.(Val1132Ile)" "" "0000524054" "00007762" "30" "3394" "0" "3394" "0" "c.3394G>A" "r.(?)" "p.(Val1132Ile)" "" "0000524055" "00007762" "50" "3280" "0" "3280" "0" "c.3280G>A" "r.(?)" "p.(Gly1094Arg)" "" "0000524056" "00007762" "10" "3166" "0" "3166" "0" "c.3166G>T" "r.(?)" "p.(Ala1056Ser)" "" "0000524057" "00007762" "30" "2961" "0" "2961" "0" "c.2961G>A" "r.(?)" "p.(Thr987=)" "" "0000524058" "00007762" "50" "2717" "0" "2717" "0" "c.2717G>A" "r.(?)" "p.(Arg906His)" "" "0000524060" "00007762" "50" "2536" "0" "2536" "0" "c.2536G>A" "r.(?)" "p.(Glu846Lys)" "" "0000524061" "00007762" "50" "2489" "0" "2489" "0" "c.2489C>T" "r.(?)" "p.(Pro830Leu)" "" "0000524062" "00007762" "50" "2428" "6" "2428" "6" "c.2428+6T>A" "r.(=)" "p.(=)" "" "0000524063" "00007762" "30" "2427" "0" "2427" "0" "c.2427T>A" "r.(?)" "p.(Ile809=)" "" "0000524064" "00007762" "50" "2384" "0" "2384" "0" "c.2384G>C" "r.(?)" "p.(Cys795Ser)" "" "0000524065" "00007762" "30" "2283" "0" "2283" "0" "c.2283T>C" "r.(?)" "p.(Gly761=)" "" "0000524066" "00007762" "50" "2260" "0" "2260" "0" "c.2260G>A" "r.(?)" "p.(Gly754Ser)" "" "0000524067" "00007762" "30" "2260" "0" "2260" "0" "c.2260G>A" "r.(?)" "p.(Gly754Ser)" "" "0000524068" "00007762" "30" "2260" "0" "2260" "0" "c.2260G>A" "r.(?)" "p.(Gly754Ser)" "" "0000524069" "00007762" "30" "2260" "0" "2260" "0" "c.2260G>A" "r.(?)" "p.(Gly754Ser)" "" "0000524070" "00007762" "30" "2096" "0" "2096" "0" "c.2096A>G" "r.(?)" "p.(Asp699Gly)" "" "0000524071" "00007762" "30" "2042" "0" "2042" "0" "c.2042G>A" "r.(?)" "p.(Arg681His)" "" "0000524072" "00007762" "50" "1826" "0" "1826" "0" "c.1826C>G" "r.(?)" "p.(Thr609Ser)" "" "0000524073" "00007762" "50" "1499" "0" "1499" "0" "c.1499A>C" "r.(?)" "p.(His500Pro)" "" "0000524074" "00007762" "30" "1482" "0" "1482" "0" "c.1482A>T" "r.(?)" "p.(Thr494=)" "" "0000524075" "00007762" "30" "1466" "-4" "1466" "-4" "c.1466-4G>A" "r.spl?" "p.?" "" "0000524076" "00007762" "30" "1466" "-4" "1466" "-4" "c.1466-4G>A" "r.spl?" "p.?" "" "0000524077" "00007762" "50" "1423" "0" "1423" "0" "c.1423G>C" "r.(?)" "p.(Gly475Arg)" "" "0000524078" "00007762" "30" "1148" "0" "1148" "0" "c.1148T>A" "r.(?)" "p.(Met383Lys)" "" "0000524079" "00007762" "30" "1040" "0" "1040" "0" "c.1040G>A" "r.(?)" "p.(Arg347His)" "" "0000524080" "00007762" "30" "1040" "0" "1040" "0" "c.1040G>A" "r.(?)" "p.(Arg347His)" "" "0000524081" "00007762" "30" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Pro326Ser)" "" "0000524082" "00007762" "30" "953" "-8" "953" "-8" "c.953-8T>G" "r.(=)" "p.(=)" "" "0000524083" "00007762" "50" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Val277Ile)" "" "0000524084" "00007762" "30" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Val277Ile)" "" "0000524085" "00007762" "30" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Val277Ile)" "" "0000524086" "00007762" "30" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Val277Ile)" "" "0000524087" "00007762" "30" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Arg270His)" "" "0000524088" "00007762" "30" "728" "0" "728" "0" "c.728T>C" "r.(?)" "p.(Ile243Thr)" "" "0000524089" "00007762" "10" "629" "-9" "629" "-9" "c.629-9A>G" "r.(=)" "p.(=)" "" "0000524090" "00007762" "30" "579" "0" "579" "0" "c.579C>G" "r.(?)" "p.(Pro193=)" "" "0000524091" "00007762" "30" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Thr173Ile)" "" "0000524092" "00007762" "50" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Arg126Cys)" "" "0000524093" "00007762" "30" "254" "5" "254" "5" "c.254+5G>C" "r.spl?" "p.?" "" "0000524094" "00007762" "50" "253" "0" "253" "0" "c.253G>C" "r.(?)" "p.(Gly85Arg)" "" "0000524095" "00007762" "10" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Ala68Val)" "" "0000524096" "00007762" "30" "186" "0" "186" "0" "c.186G>A" "r.(?)" "p.(Glu62=)" "" "0000524097" "00007762" "10" "183" "0" "183" "0" "c.183C>G" "r.(?)" "p.(Pro61=)" "" "0000524098" "00007762" "10" "183" "0" "183" "0" "c.183C>G" "r.(?)" "p.(Pro61=)" "" "0000524099" "00007762" "30" "68" "0" "68" "0" "c.68C>G" "r.(?)" "p.(Ala23Gly)" "" "0000524100" "00007762" "30" "26" "0" "26" "0" "c.26T>C" "r.(?)" "p.(Leu9Pro)" "" "0000597927" "00007762" "50" "2536" "0" "2536" "0" "c.2536G>A" "r.(?)" "p.(Glu846Lys)" "" "0000609420" "00007762" "50" "8537" "0" "8537" "0" "c.8537G>A" "r.(?)" "p.(Arg2846His)" "" "0000609421" "00007762" "30" "8344" "0" "8344" "0" "c.8344C>T" "r.(?)" "p.(His2782Tyr)" "" "0000609422" "00007762" "30" "8082" "0" "8082" "0" "c.8082C>A" "r.(?)" "p.(His2694Gln)" "" "0000609423" "00007762" "30" "7593" "0" "7593" "0" "c.7593A>G" "r.(?)" "p.(Lys2531=)" "" "0000609424" "00007762" "50" "7477" "0" "7477" "0" "c.7477G>A" "r.(?)" "p.(Asp2493Asn)" "" "0000609425" "00007762" "30" "7012" "7" "7012" "7" "c.7012+7G>A" "r.(=)" "p.(=)" "" "0000609426" "00007762" "30" "6982" "0" "6982" "0" "c.6982G>T" "r.(?)" "p.(Ala2328Ser)" "" "0000609427" "00007762" "30" "6638" "-9" "6638" "-7" "c.6638-9_6638-7del" "r.(=)" "p.(=)" "" "0000609428" "00007762" "50" "6349" "0" "6349" "0" "c.6349A>G" "r.(?)" "p.(Lys2117Glu)" "" "0000609429" "00007762" "50" "5703" "0" "5703" "0" "c.5703C>A" "r.(?)" "p.(Asn1901Lys)" "" "0000609430" "00007762" "30" "5674" "7" "5674" "7" "c.5674+7A>G" "r.(=)" "p.(=)" "" "0000609431" "00007762" "30" "5674" "7" "5674" "7" "c.5674+7A>G" "r.(=)" "p.(=)" "" "0000609432" "00007762" "30" "4497" "0" "4497" "0" "c.4497C>T" "r.(?)" "p.(Asn1499=)" "" "0000609433" "00007762" "70" "4307" "0" "4307" "0" "c.4307G>A" "r.(?)" "p.(Cys1436Tyr)" "" "0000609434" "00007762" "30" "4298" "0" "4298" "0" "c.4298G>A" "r.(?)" "p.(Arg1433His)" "" "0000609435" "00007762" "50" "4259" "0" "4259" "0" "c.4259G>A" "r.(?)" "p.(Ser1420Asn)" "" "0000609436" "00007762" "70" "3847" "2" "3847" "2" "c.3847+2T>A" "r.spl?" "p.?" "" "0000609437" "00007762" "30" "3660" "0" "3660" "0" "c.3660T>G" "r.(?)" "p.(Ile1220Met)" "" "0000609438" "00007762" "30" "3321" "0" "3321" "0" "c.3321C>T" "r.(?)" "p.(Asp1107=)" "" "0000609439" "00007762" "10" "3015" "0" "3015" "0" "c.3015G>A" "r.(?)" "p.(Leu1005=)" "" "0000609440" "00007762" "10" "3015" "0" "3015" "0" "c.3015G>A" "r.(?)" "p.(Leu1005=)" "" "0000609441" "00007762" "30" "2555" "-6" "2555" "-6" "c.2555-6T>C" "r.(=)" "p.(=)" "" "0000609442" "00007762" "30" "2555" "-8" "2555" "-8" "c.2555-8G>T" "r.(=)" "p.(=)" "" "0000609443" "00007762" "30" "2536" "0" "2536" "0" "c.2536G>A" "r.(?)" "p.(Glu846Lys)" "" "0000609444" "00007762" "30" "2359" "0" "2359" "0" "c.2359T>A" "r.(?)" "p.(Leu787Ile)" "" "0000609445" "00007762" "30" "2096" "-19" "2096" "-19" "c.2096-19G>A" "r.(=)" "p.(=)" "" "0000609446" "00007762" "50" "1990" "0" "1990" "0" "c.1990A>T" "r.(?)" "p.(Thr664Ser)" "" "0000609447" "00007762" "30" "1850" "-9" "1850" "-9" "c.1850-9C>T" "r.(=)" "p.(=)" "" "0000609448" "00007762" "30" "1604" "-8" "1604" "-8" "c.1604-8G>C" "r.(=)" "p.(=)" "" "0000609449" "00007762" "10" "1592" "0" "1592" "0" "c.1592G>C" "r.(?)" "p.(Gly531Ala)" "" "0000609450" "00007762" "30" "1079" "-14" "1079" "-14" "c.1079-14T>G" "r.(=)" "p.(=)" "" "0000609451" "00007762" "30" "1011" "0" "1011" "0" "c.1011C>T" "r.(?)" "p.(Thr337=)" "" "0000609452" "00007762" "50" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Pro304Ser)" "" "0000609453" "00007762" "30" "827" "-3" "827" "-3" "c.827-3C>T" "r.spl?" "p.?" "" "0000609454" "00007762" "50" "811" "0" "811" "0" "c.811A>C" "r.(?)" "p.(Thr271Pro)" "" "0000621461" "00007762" "30" "7380" "0" "7380" "0" "c.7380C>T" "r.(?)" "p.(Cys2460=)" "" "0000621462" "00007762" "10" "5075" "-257" "5075" "-257" "c.5075-257G>A" "r.(=)" "p.(=)" "" "0000621463" "00007762" "50" "2560" "0" "2560" "0" "c.2560A>C" "r.(?)" "p.(Asn854His)" "" "0000651572" "00007762" "70" "3847" "1" "3847" "1" "c.3847+1G>T" "r.spl?" "p.?" "" "0000651573" "00007762" "30" "3762" "0" "3762" "0" "c.3762C>T" "r.(=)" "p.(=)" "" "0000651574" "00007762" "50" "3296" "0" "3296" "0" "c.3296G>A" "r.(?)" "p.(Arg1099His)" "" "0000651575" "00007762" "30" "1040" "0" "1040" "0" "c.1040G>A" "r.(?)" "p.(Arg347His)" "" "0000651576" "00007762" "30" "728" "0" "728" "0" "c.728T>C" "r.(?)" "p.(Ile243Thr)" "" "0000651577" "00007762" "30" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Ala68Val)" "" "0000653062" "00007762" "50" "6833" "0" "6833" "0" "c.6833C>T" "r.(?)" "p.(Thr2278Met)" "" "0000655256" "00007762" "30" "7711" "159" "7711" "159" "c.7711+159T>G" "r.(=)" "p.(=)" "" "0000655257" "00007762" "30" "7595" "-271" "7595" "-271" "c.7595-271C>A" "r.(=)" "p.(=)" "" "0000655258" "00007762" "30" "7496" "0" "7496" "0" "c.7496C>T" "r.(?)" "p.(Pro2499Leu)" "" "0000655259" "00007762" "50" "6964" "0" "6964" "0" "c.6964A>G" "r.(?)" "p.(Ile2322Val)" "" "0000655260" "00007762" "30" "6637" "244" "6637" "244" "c.6637+244C>G" "r.(=)" "p.(=)" "" "0000655261" "00007762" "30" "4717" "72" "4717" "72" "c.4717+72C>T" "r.(=)" "p.(=)" "" "0000655262" "00007762" "50" "2978" "0" "2978" "0" "c.2978G>A" "r.(?)" "p.(Arg993His)" "" "0000655263" "00007762" "30" "2534" "0" "2534" "0" "c.2534C>T" "r.(?)" "p.(Thr845Ile)" "" "0000655264" "00007762" "50" "1644" "0" "1644" "0" "c.1644T>G" "r.(?)" "p.(Asp548Glu)" "" "0000655265" "00007762" "30" "1422" "0" "1422" "0" "c.1422C>T" "r.(?)" "p.(Ala474=)" "" "0000655266" "00007762" "50" "1121" "0" "1121" "0" "c.1121G>A" "r.(?)" "p.(Arg374His)" "" "0000655267" "00007762" "30" "629" "-18" "629" "-15" "c.629-18_629-15del" "r.(=)" "p.(=)" "" "0000655268" "00007762" "30" "628" "155" "628" "155" "c.628+155T>A" "r.(=)" "p.(=)" "" "0000655269" "00007762" "30" "254" "373" "254" "373" "c.254+373C>T" "r.(=)" "p.(=)" "" "0000669823" "00007762" "30" "728" "0" "728" "0" "c.728T>C" "r.(?)" "p.(Ile243Thr)" "" "0000673941" "00007762" "90" "3725" "-15" "3725" "-15" "c.3725-15A>G" "r.(=)" "p.(=)" "" "0000675325" "00007762" "70" "3968" "0" "3968" "0" "c.3968G>C" "r.(?)" "p.(Cys1323Ser)" "" "0000677368" "00007762" "50" "8675" "0" "8675" "0" "c.8675A>G" "r.(?)" "p.(Asp2892Gly)" "" "0000677369" "00007762" "30" "8289" "0" "8289" "0" "c.8289C>T" "r.(?)" "p.(Tyr2763=)" "" "0000677370" "00007762" "50" "6306" "0" "6306" "0" "c.6306C>A" "r.(?)" "p.(Ser2102Arg)" "" "0000677371" "00007762" "30" "6021" "0" "6021" "0" "c.6021T>C" "r.(?)" "p.(Leu2007=)" "" "0000677372" "00007762" "30" "5754" "0" "5754" "0" "c.5754C>T" "r.(?)" "p.(Ile1918=)" "" "0000677373" "00007762" "50" "3805" "0" "3805" "0" "c.3805A>G" "r.(?)" "p.(Ser1269Gly)" "" "0000677374" "00007762" "30" "3296" "0" "3296" "0" "c.3296G>A" "r.(?)" "p.(Arg1099His)" "" "0000677375" "00007762" "30" "3236" "0" "3236" "0" "c.3236C>T" "r.(?)" "p.(Ala1079Val)" "" "0000677376" "00007762" "50" "3062" "0" "3062" "0" "c.3062G>A" "r.(?)" "p.(Arg1021His)" "" "0000677377" "00007762" "30" "2684" "0" "2684" "0" "c.2684A>G" "r.(?)" "p.(Lys895Arg)" "" "0000677378" "00007762" "30" "2625" "0" "2625" "0" "c.2625T>C" "r.(?)" "p.(Cys875=)" "" "0000677379" "00007762" "50" "2489" "0" "2489" "0" "c.2489C>T" "r.(?)" "p.(Pro830Leu)" "" "0000677380" "00007762" "50" "1734" "0" "1734" "0" "c.1734G>C" "r.(?)" "p.(Glu578Asp)" "" "0000677381" "00007762" "30" "1592" "0" "1592" "0" "c.1592G>C" "r.(?)" "p.(Gly531Ala)" "" "0000689407" "00007762" "30" "8365" "-295" "8365" "-295" "c.8365-295C>A" "r.(=)" "p.(=)" "" "0000689408" "00007762" "30" "7650" "0" "7650" "0" "c.7650C>G" "r.(?)" "p.(Thr2550=)" "" "0000689409" "00007762" "30" "7471" "6" "7471" "6" "c.7471+6G>A" "r.(=)" "p.(=)" "" "0000689410" "00007762" "30" "6946" "0" "6946" "0" "c.6946A>T" "r.(?)" "p.(Ile2316Phe)" "" "0000689411" "00007762" "30" "5985" "0" "5985" "0" "c.5985T>A" "r.(?)" "p.(Gly1995=)" "" "0000689412" "00007762" "50" "5966" "0" "5966" "0" "c.5966G>A" "r.(?)" "p.(Arg1989His)" "" "0000689413" "00007762" "30" "5918" "-326" "5918" "-326" "c.5918-326C>T" "r.(=)" "p.(=)" "" "0000689414" "00007762" "50" "5500" "0" "5500" "0" "c.5500G>A" "r.(?)" "p.(Glu1834Lys)" "" "0000689415" "00007762" "30" "5353" "10" "5353" "10" "c.5353+10C>T" "r.(=)" "p.(=)" "" "0000689416" "00007762" "30" "4472" "-12" "4472" "-12" "c.4472-12del" "r.(=)" "p.(=)" "" "0000689417" "00007762" "30" "2813" "-411" "2813" "-411" "c.2813-411A>G" "r.(=)" "p.(=)" "" "0000689418" "00007762" "30" "1972" "176" "1972" "176" "c.1972+176A>G" "r.(=)" "p.(=)" "" "0000689419" "00007762" "30" "1850" "-169" "1850" "-169" "c.1850-169C>G" "r.(=)" "p.(=)" "" "0000698839" "00007762" "70" "3437" "0" "3437" "0" "c.3437A>G" "r.(?)" "p.(Tyr1146Cys)" "" "0000701791" "00007762" "50" "4312" "0" "4312" "0" "c.4312G>A" "r.(?)" "p.(Glu1438Lys)" "" "0000709023" "00007762" "50" "3563" "0" "3563" "0" "c.3563G>T" "r.(?)" "p.(Gly1188Val)" "27" "0000709024" "00007762" "50" "6831" "0" "6831" "0" "c.6831C>A" "r.(?)" "p.(Cys2277*)" "54" "0000720124" "00007762" "30" "8537" "0" "8537" "0" "c.8537G>A" "r.(?)" "p.(Arg2846His)" "" "0000720125" "00007762" "30" "8304" "0" "8304" "0" "c.8304C>T" "r.(?)" "p.(Asn2768=)" "" "0000720126" "00007762" "30" "8046" "0" "8046" "0" "c.8046G>T" "r.(?)" "p.(Ser2682=)" "" "0000720127" "00007762" "50" "7859" "0" "7859" "0" "c.7859G>A" "r.(?)" "p.(Gly2620Glu)" "" "0000720128" "00007762" "30" "6948" "0" "6948" "0" "c.6948C>A" "r.(?)" "p.(Ile2316=)" "" "0000720129" "00007762" "30" "6655" "0" "6655" "0" "c.6655A>G" "r.(?)" "p.(Ile2219Val)" "" "0000720130" "00007762" "50" "5114" "0" "5114" "0" "c.5114C>T" "r.(?)" "p.(Pro1705Leu)" "" "0000720131" "00007762" "30" "5075" "-87" "5075" "-87" "c.5075-87C>T" "r.(=)" "p.(=)" "" "0000720132" "00007762" "10" "5075" "-313" "5075" "-313" "c.5075-313A>T" "r.(=)" "p.(=)" "" "0000720133" "00007762" "30" "4949" "-18" "4949" "-18" "c.4949-18C>G" "r.(=)" "p.(=)" "" "0000720134" "00007762" "50" "4718" "-3" "4718" "-3" "c.4718-3C>T" "r.spl?" "p.?" "" "0000720135" "00007762" "30" "4595" "-106" "4595" "-106" "c.4595-106A>C" "r.(=)" "p.(=)" "" "0000720136" "00007762" "30" "4100" "-9" "4100" "-9" "c.4100-9G>T" "r.(=)" "p.(=)" "" "0000720137" "00007762" "50" "3839" "0" "3839" "0" "c.3839C>T" "r.(?)" "p.(Ser1280Leu)" "" "0000720138" "00007762" "30" "3767" "0" "3767" "0" "c.3767A>G" "r.(?)" "p.(Gln1256Arg)" "" "0000720139" "00007762" "50" "3394" "0" "3394" "0" "c.3394G>A" "r.(?)" "p.(Val1132Ile)" "" "0000720140" "00007762" "30" "3235" "0" "3235" "0" "c.3235G>T" "r.(?)" "p.(Ala1079Ser)" "" "0000720141" "00007762" "50" "3199" "0" "3199" "0" "c.3199G>A" "r.(?)" "p.(Gly1067Arg)" "" "0000720142" "00007762" "30" "3144" "0" "3144" "0" "c.3144C>T" "r.(?)" "p.(Tyr1048=)" "" "0000720143" "00007762" "10" "2778" "0" "2778" "0" "c.2778C>T" "r.(?)" "p.(Ala926=)" "" "0000720144" "00007762" "50" "2303" "-2" "2303" "-2" "c.2303-2A>G" "r.spl?" "p.?" "" "0000720145" "00007762" "30" "2249" "-69" "2249" "-69" "c.2249-69A>T" "r.(=)" "p.(=)" "" "0000720146" "00007762" "30" "2248" "317" "2248" "317" "c.2248+317C>T" "r.(=)" "p.(=)" "" "0000720147" "00007762" "30" "2054" "0" "2054" "0" "c.2054C>A" "r.(?)" "p.(Pro685His)" "" "0000720148" "00007762" "30" "1973" "-253" "1973" "-253" "c.1973-253T>C" "r.(=)" "p.(=)" "" "0000720149" "00007762" "30" "1850" "-9" "1850" "-9" "c.1850-9C>T" "r.(=)" "p.(=)" "" "0000720150" "00007762" "30" "1500" "0" "1500" "0" "c.1500T>G" "r.(?)" "p.(His500Gln)" "" "0000720151" "00007762" "30" "1465" "177" "1465" "177" "c.1465+177A>G" "r.(=)" "p.(=)" "" "0000720152" "00007762" "30" "968" "0" "968" "0" "c.968G>A" "r.(?)" "p.(Ser323Asn)" "" "0000720153" "00007762" "30" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Thr173Ile)" "" "0000720154" "00007762" "50" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Gly53Asp)" "" "0000763752" "00007762" "90" "4141" "0" "4141" "0" "c.4141C>A" "r.(?)" "p.(His1381Asn)" "" "0000763767" "00007762" "50" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Pro326Ser)" "" "0000764171" "00007762" "50" "7355" "0" "7355" "0" "c.7355A>C" "r.(?)" "p.(Glu2452Ala)" "58" "0000764172" "00007762" "50" "2507" "0" "2507" "0" "c.2507C>T" "r.(?)" "p.(Thr836Met)" "19" "0000801841" "00007762" "30" "7862" "0" "7862" "0" "c.7862A>G" "r.(?)" "p.(Asn2621Ser)" "" "0000801842" "00007762" "30" "7841" "-3" "7841" "-3" "c.7841-3C>T" "r.spl?" "p.?" "" "0000801843" "00007762" "30" "7690" "0" "7690" "0" "c.7690C>G" "r.(?)" "p.(Gln2564Glu)" "" "0000801844" "00007762" "50" "7448" "0" "7448" "0" "c.7448A>T" "r.(?)" "p.(Asp2483Val)" "" "0000801845" "00007762" "30" "7181" "0" "7181" "0" "c.7181T>C" "r.(?)" "p.(Ile2394Thr)" "" "0000801846" "00007762" "30" "6948" "0" "6948" "0" "c.6948C>T" "r.(?)" "p.(Ile2316=)" "" "0000801847" "00007762" "30" "5918" "-10" "5918" "-10" "c.5918-10T>C" "r.(=)" "p.(=)" "" "0000801848" "00007762" "50" "5854" "0" "5854" "0" "c.5854G>A" "r.(?)" "p.(Val1952Ile)" "" "0000801849" "00007762" "30" "5703" "0" "5703" "0" "c.5703C>T" "r.(?)" "p.(Asn1901=)" "" "0000801850" "00007762" "50" "4657" "0" "4657" "0" "c.4657C>T" "r.(?)" "p.(Arg1553Cys)" "" "0000801851" "00007762" "30" "4472" "-11" "4472" "-11" "c.4472-11A>T" "r.(=)" "p.(=)" "" "0000801852" "00007762" "30" "4311" "0" "4311" "0" "c.4311C>T" "r.(?)" "p.(Ser1437=)" "" "0000801853" "00007762" "30" "3762" "0" "3762" "0" "c.3762C>T" "r.(?)" "p.(Asp1254=)" "" "0000801854" "00007762" "30" "3166" "0" "3166" "0" "c.3166G>T" "r.(?)" "p.(Ala1056Ser)" "" "0000801855" "00007762" "50" "2722" "0" "2722" "0" "c.2722G>A" "r.(?)" "p.(Glu908Lys)" "" "0000801856" "00007762" "30" "2675" "-4" "2675" "-4" "c.2675-4T>G" "r.spl?" "p.?" "" "0000801857" "00007762" "30" "2555" "-7" "2555" "-7" "c.2555-7A>G" "r.(=)" "p.(=)" "" "0000801858" "00007762" "50" "2252" "0" "2252" "0" "c.2252A>C" "r.(?)" "p.(Glu751Ala)" "" "0000801859" "00007762" "50" "1826" "0" "1826" "0" "c.1826C>G" "r.(?)" "p.(Thr609Ser)" "" "0000801860" "00007762" "30" "1466" "-4" "1466" "-4" "c.1466-4G>A" "r.spl?" "p.?" "" "0000801861" "00007762" "30" "1466" "-5" "1466" "-5" "c.1466-5C>T" "r.spl?" "p.?" "" "0000801862" "00007762" "10" "728" "0" "728" "0" "c.728T>C" "r.(?)" "p.(Ile243Thr)" "" "0000801863" "00007762" "50" "287" "0" "289" "0" "c.287_289del" "r.(?)" "p.(Tyr96del)" "" "0000801864" "00007762" "50" "230" "0" "230" "0" "c.230G>T" "r.(?)" "p.(Arg77Leu)" "" "0000801865" "00007762" "30" "110" "0" "110" "0" "c.110C>A" "r.(?)" "p.(Pro37Gln)" "" "0000821947" "00007762" "90" "5009" "0" "5009" "0" "c.5009T>G" "r.(?)" "p.(Phe1670Cys)" "" "0000821950" "00007762" "50" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Pro326Ser)" "8" "0000821951" "00007762" "50" "6655" "0" "6655" "0" "c.6655A>G" "r.(?)" "p.(Ile2219Val)" "53" "0000821952" "00007762" "50" "6931" "0" "6931" "0" "c.6931A>G" "r.(?)" "p.(Met2311Val)" "55" "0000821953" "00007762" "50" "4312" "0" "4312" "0" "c.4312G>A" "r.(?)" "p.(Glu1438Lys)" "33" "0000821954" "00007762" "50" "1040" "0" "1040" "0" "c.1040G>A" "r.(?)" "p.(Arg347His)" "8" "0000821955" "00007762" "50" "4141" "0" "4141" "0" "c.4141C>A" "r.(?)" "p.(His1381Asn)" "32" "0000821956" "00007762" "50" "7181" "0" "7181" "0" "c.7181T>C" "r.(?)" "p.(Ile2394Thr)" "57" "0000821957" "00007762" "50" "4246" "0" "4246" "0" "c.4246A>G" "r.(?)" "p.(Thr1416Ala)" "33" "0000821958" "00007762" "50" "728" "0" "728" "0" "c.728T>C" "r.(?)" "p.(Ile243Thr)" "6" "0000821959" "00007762" "50" "4924" "0" "4924" "0" "c.4924A>G" "r.(?)" "p.(Asn1642Asp)" "38" "0000821960" "00007762" "50" "3767" "0" "3767" "0" "c.3767A>G" "r.(?)" "p.(Gln1256Arg)" "29" "0000821961" "00007762" "50" "2536" "0" "2536" "0" "c.2536G>A" "r.(?)" "p.(Glu846Lys)" "19" "0000821962" "00007762" "50" "8396" "0" "8396" "0" "c.8396T>C" "r.(?)" "p.(Met2799Thr)" "65" "0000821963" "00007762" "50" "3805" "0" "3805" "0" "c.3805A>G" "r.(?)" "p.(Ser1269Gly)" "29" "0000821964" "00007762" "50" "3166" "0" "3166" "0" "c.3166G>T" "r.(?)" "p.(Ala1056Ser)" "24" "0000821965" "00007762" "50" "3235" "0" "3235" "0" "c.3235G>T" "r.(?)" "p.(Ala1079Ser)" "25" "0000821966" "00007762" "50" "8282" "0" "8282" "0" "c.8282C>T" "r.(?)" "p.(Ala2761Val)" "64" "0000821967" "00007762" "50" "2042" "0" "2042" "0" "c.2042G>A" "r.(?)" "p.(Arg681His)" "15" "0000821968" "00007762" "50" "2047" "0" "2047" "0" "c.2047G>C" "r.(?)" "p.(Asp683His)" "15" "0000821969" "00007762" "50" "7690" "0" "7690" "0" "c.7690C>G" "r.(?)" "p.(Gln2564Glu)" "60" "0000821970" "00007762" "50" "5442" "0" "5442" "0" "c.5442G>T" "r.(?)" "p.(Glu1814Asp)" "43" "0000821971" "00007762" "50" "8347" "0" "8347" "0" "c.8347G>C" "r.(?)" "p.(Glu2783Gln)" "64" "0000821972" "00007762" "50" "2722" "0" "2722" "0" "c.2722G>A" "r.(?)" "p.(Glu908Lys)" "21" "0000821973" "00007762" "50" "2924" "0" "2924" "0" "c.2924A>G" "r.(?)" "p.(Lys975Arg)" "23" "0000821974" "00007762" "50" "7496" "0" "7496" "0" "c.7496C>T" "r.(?)" "p.(Pro2499Leu)" "59" "0000821975" "00007762" "50" "1285" "0" "1285" "0" "c.1285A>G" "r.(?)" "p.(Ser429Gly)" "10" "0000821976" "00007762" "50" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Thr173Ile)" "4" "0000821977" "00007762" "50" "1238" "0" "1238" "0" "c.1238A>G" "r.(?)" "p.(Tyr413Cys)" "10" "0000821978" "00007762" "50" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Pro326Ser)" "8" "0000821979" "00007762" "50" "8351" "0" "8351" "0" "c.8351C>T" "r.(?)" "p.(Pro2784Leu)" "64" "0000821980" "00007762" "50" "2260" "0" "2260" "0" "c.2260G>A" "r.(?)" "p.(Gly754Ser)" "17" "0000821981" "00007762" "50" "6655" "0" "6655" "0" "c.6655A>G" "r.(?)" "p.(Ile2219Val)" "53" "0000821982" "00007762" "50" "7296" "0" "7296" "0" "c.7296G>T" "r.(?)" "p.(Gln2432His)" "57" "0000821983" "00007762" "50" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Val277Ile)" "7" "0000821984" "00007762" "50" "6931" "0" "6931" "0" "c.6931A>G" "r.(?)" "p.(Met2311Val)" "55" "0000821985" "00007762" "50" "4312" "0" "4312" "0" "c.4312G>A" "r.(?)" "p.(Glu1438Lys)" "33" "0000821986" "00007762" "50" "1040" "0" "1040" "0" "c.1040G>A" "r.(?)" "p.(Arg347His)" "8" "0000821987" "00007762" "50" "4141" "0" "4141" "0" "c.4141C>A" "r.(?)" "p.(His1381Asn)" "32" "0000821988" "00007762" "50" "7181" "0" "7181" "0" "c.7181T>C" "r.(?)" "p.(Ile2394Thr)" "57" "0000821989" "00007762" "50" "8351" "0" "8351" "0" "c.8351C>T" "r.(?)" "p.(Pro2784Leu)" "64" "0000821990" "00007762" "50" "2260" "0" "2260" "0" "c.2260G>A" "r.(?)" "p.(Gly754Ser)" "17" "0000821991" "00007762" "50" "7296" "0" "7296" "0" "c.7296G>T" "r.(?)" "p.(Gln2432His)" "57" "0000821992" "00007762" "50" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Val277Ile)" "7" "0000821993" "00007762" "50" "5703" "0" "5703" "0" "c.5703C>A" "r.(?)" "p.(Asn1901Lys)" "45" "0000821994" "00007762" "50" "4453" "0" "4453" "0" "c.4453G>A" "r.(?)" "p.(Asp1485Asn)" "34" "0000821995" "00007762" "50" "6910" "0" "6910" "0" "c.6910G>A" "r.(?)" "p.(Asp2304Asn)" "55" "0000821996" "00007762" "50" "7426" "0" "7426" "0" "c.7426T>A" "r.(?)" "p.(Cys2476Ser)" "58" "0000821997" "00007762" "50" "92" "0" "92" "0" "c.92A>T" "r.(?)" "p.(Gln31Leu)" "1" "0000821998" "00007762" "50" "6949" "0" "6949" "0" "c.6949G>A" "r.(?)" "p.(Gly2317Ser)" "55" "0000821999" "00007762" "50" "1435" "0" "1435" "0" "c.1435G>A" "r.(?)" "p.(Gly479Arg)" "10" "0000822000" "00007762" "50" "5648" "0" "5648" "0" "c.5648A>G" "r.(?)" "p.(Lys1883Arg)" "44" "0000822001" "00007762" "50" "6334" "0" "6334" "0" "c.6334A>G" "r.(?)" "p.(Lys2112Glu)" "50" "0000822002" "00007762" "50" "3000" "0" "3000" "0" "c.3000G>T" "r.(?)" "p.(Met1000Ile)" "24" "0000822003" "00007762" "50" "1157" "0" "1157" "0" "c.1157T>C" "r.(?)" "p.(Met386Thr)" "9" "0000822004" "00007762" "50" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Pro380Leu)" "9" "0000822005" "00007762" "50" "68" "0" "68" "0" "c.68C>G" "r.(?)" "p.(Ala23Gly)" "1" "0000822006" "00007762" "50" "3839" "0" "3839" "0" "c.3839C>T" "r.(?)" "p.(Ser1280Leu)" "29" "0000822007" "00007762" "50" "968" "0" "968" "0" "c.968G>A" "r.(?)" "p.(Ser323Asn)" "8" "0000822008" "00007762" "50" "1990" "0" "1990" "0" "c.1990A>T" "r.(?)" "p.(Thr664Ser)" "15" "0000822009" "00007762" "50" "6655" "0" "6655" "0" "c.6655A>G" "r.(?)" "p.(Ile2219Val)" "53" "0000822010" "00007762" "50" "4246" "0" "4246" "0" "c.4246A>G" "r.(?)" "p.(Thr1416Ala)" "33" "0000822011" "00007762" "50" "4312" "0" "4312" "0" "c.4312G>A" "r.(?)" "p.(Glu1438Lys)" "33" "0000822012" "00007762" "50" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Pro326Ser)" "8" "0000822013" "00007762" "50" "1040" "0" "1040" "0" "c.1040G>A" "r.(?)" "p.(Arg347His)" "8" "0000822014" "00007762" "50" "6931" "0" "6931" "0" "c.6931A>G" "r.(?)" "p.(Met2311Val)" "55" "0000822015" "00007762" "50" "7181" "0" "7181" "0" "c.7181T>C" "r.(?)" "p.(Ile2394Thr)" "57" "0000822016" "00007762" "50" "728" "0" "728" "0" "c.728T>C" "r.(?)" "p.(Ile243Thr)" "6" "0000822017" "00007762" "50" "4141" "0" "4141" "0" "c.4141C>A" "r.(?)" "p.(His1381Asn)" "32" "0000831699" "00007762" "90" "3812" "0" "3812" "0" "c.3812G>C" "r.(?)" "p.(Gly1271Ala)" "" "0000831700" "00007762" "70" "3889" "0" "3889" "0" "c.3889G>A" "r.(?)" "p.(Gly1297Ser)" "" "0000831701" "00007762" "70" "7526" "0" "7527" "0" "c.7526_7527del" "r.(?)" "p.0" "" "0000831754" "00007762" "50" "1423" "0" "1423" "0" "c.1423G>C" "r.(?)" "p.(Gly475Arg)" "" "0000831755" "00007762" "50" "1990" "0" "1990" "0" "c.1990A>T" "r.(?)" "p.(Thr664Ser)" "" "0000831756" "00007762" "50" "2717" "0" "2717" "0" "c.2717G>A" "r.(?)" "p.(Arg906His)" "" "0000831757" "00007762" "50" "2717" "0" "2717" "0" "c.2717G>A" "r.(?)" "p.(Arg906His)" "" "0000831758" "00007762" "50" "3468" "0" "3468" "0" "c.3468C>T" "r.spl?" "p.(Cys1156=)" "" "0000831759" "00007762" "50" "4418" "0" "4418" "0" "c.4418G>A" "r.(?)" "p.(Arg1473His)" "" "0000831760" "00007762" "50" "5339" "0" "5339" "0" "c.5339C>G" "r.(?)" "p.(Pro1780Arg)" "" "0000831761" "00007762" "50" "6055" "0" "6055" "0" "c.6055G>A" "r.(?)" "p.(Glu2019Lys)" "" "0000831762" "00007762" "50" "6764" "0" "6764" "0" "c.6764A>G" "r.(?)" "p.(Asn2255Ser)" "" "0000831763" "00007762" "50" "7723" "0" "7723" "0" "c.7723T>C" "r.(?)" "p.(Cys2575Arg)" "" "0000831813" "00007762" "50" "5635" "0" "5635" "0" "c.5635G>A" "r.(?)" "p.(Ala1879Thr)" "" "0000832160" "00007762" "50" "1040" "0" "1040" "0" "c.1040G>A" "r.(?)" "p.(Arg347His)" "" "0000833439" "00007762" "70" "5917" "1" "5917" "1" "c.5917+1del" "r.(5801_5917del)" "p.(Val1935_Asp1973del)" "" "0000850743" "00007762" "30" "8082" "0" "8082" "0" "c.8082C>A" "r.(?)" "p.(His2694Gln)" "" "0000850744" "00007762" "30" "6948" "0" "6948" "0" "c.6948C>T" "r.(?)" "p.(Ile2316=)" "" "0000850745" "00007762" "50" "4444" "0" "4444" "0" "c.4444C>T" "r.(?)" "p.(Pro1482Ser)" "" "0000850746" "00007762" "50" "4259" "0" "4259" "0" "c.4259G>A" "r.(?)" "p.(Ser1420Asn)" "" "0000850747" "00007762" "50" "4103" "0" "4103" "0" "c.4103T>C" "r.(?)" "p.(Val1368Ala)" "" "0000850748" "00007762" "30" "3609" "0" "3609" "0" "c.3609A>G" "r.(?)" "p.(Glu1203=)" "" "0000850749" "00007762" "30" "3009" "0" "3009" "0" "c.3009T>C" "r.(?)" "p.(Cys1003=)" "" "0000850750" "00007762" "30" "2637" "0" "2637" "0" "c.2637C>T" "r.(?)" "p.(Pro879=)" "" "0000850751" "00007762" "30" "2536" "0" "2536" "0" "c.2536G>A" "r.(?)" "p.(Glu846Lys)" "" "0000850752" "00007762" "30" "2536" "0" "2536" "0" "c.2536G>A" "r.(?)" "p.(Glu846Lys)" "" "0000859723" "00007762" "30" "8364" "7" "8364" "7" "c.8364+7A>T" "r.(=)" "p.(=)" "" "0000859724" "00007762" "50" "7583" "0" "7583" "0" "c.7583A>G" "r.(?)" "p.(Lys2528Arg)" "" "0000859725" "00007762" "50" "7296" "0" "7296" "0" "c.7296G>T" "r.(?)" "p.(Gln2432His)" "" "0000859726" "00007762" "30" "7012" "7" "7012" "7" "c.7012+7G>A" "r.(=)" "p.(=)" "" "0000859727" "00007762" "50" "6722" "0" "6722" "0" "c.6722A>T" "r.(?)" "p.(Glu2241Val)" "" "0000859728" "00007762" "30" "6615" "0" "6615" "0" "c.6615C>T" "r.(?)" "p.(Asp2205=)" "" "0000859729" "00007762" "50" "6574" "0" "6574" "0" "c.6574G>A" "r.(?)" "p.(Gly2192Arg)" "" "0000859730" "00007762" "30" "6551" "0" "6551" "0" "c.6551A>T" "r.(?)" "p.(Asn2184Ile)" "" "0000859731" "00007762" "30" "6046" "45" "6046" "45" "c.6046+45T>C" "r.(=)" "p.(=)" "" "0000859732" "00007762" "30" "5918" "-7" "5918" "-7" "c.5918-7C>G" "r.(=)" "p.(=)" "" "0000859733" "00007762" "30" "5602" "0" "5602" "0" "c.5602A>T" "r.(?)" "p.(Ile1868Phe)" "" "0000859734" "00007762" "30" "5496" "0" "5496" "0" "c.5496C>T" "r.(?)" "p.(Arg1832=)" "" "0000859735" "00007762" "30" "3273" "0" "3273" "0" "c.3273T>C" "r.(?)" "p.(Asn1091=)" "" "0000859736" "00007762" "50" "1990" "0" "1990" "0" "c.1990A>T" "r.(?)" "p.(Thr664Ser)" "" "0000859737" "00007762" "50" "1720" "0" "1720" "0" "c.1720A>G" "r.(?)" "p.(Ile574Val)" "" "0000859738" "00007762" "30" "738" "0" "738" "0" "c.738G>A" "r.(?)" "p.(Ala246=)" "" "0000859739" "00007762" "50" "168" "0" "168" "0" "c.168C>T" "r.(?)" "p.(Gly56=)" "" "0000873528" "00007762" "70" "4217" "0" "4217" "0" "c.4217G>A" "r.(?)" "p.(Cys1406Tyr)" "" "0000881171" "00007762" "70" "1526" "0" "1526" "0" "c.1526G>T" "r.(?)" "p.(Arg509Leu)" "" "0000886561" "00007762" "10" "8332" "0" "8332" "0" "c.8332A>C" "r.(?)" "p.(Lys2778Gln)" "" "0000886562" "00007762" "30" "8124" "0" "8124" "0" "c.8124C>T" "r.(?)" "p.(Tyr2708=)" "" "0000886563" "00007762" "30" "7961" "-19" "7961" "-19" "c.7961-19T>A" "r.(=)" "p.(=)" "" "0000886564" "00007762" "50" "7859" "0" "7860" "0" "c.7859_7860delinsAA" "r.(?)" "p.(Gly2620Glu)" "" "0000886565" "00007762" "50" "7808" "0" "7808" "0" "c.7808T>C" "r.(?)" "p.(Phe2603Ser)" "" "0000886566" "00007762" "50" "7559" "0" "7559" "0" "c.7559G>T" "r.(?)" "p.(Gly2520Val)" "" "0000886567" "00007762" "10" "7296" "0" "7296" "0" "c.7296G>T" "r.(?)" "p.(Gln2432His)" "" "0000886568" "00007762" "50" "7058" "0" "7058" "0" "c.7058G>T" "r.(?)" "p.(Arg2353Leu)" "" "0000886569" "00007762" "30" "6946" "0" "6946" "0" "c.6946A>T" "r.(?)" "p.(Ile2316Phe)" "" "0000886570" "00007762" "30" "6512" "-7" "6512" "-7" "c.6512-7A>G" "r.(=)" "p.(=)" "" "0000886571" "00007762" "50" "6323" "0" "6323" "0" "c.6323T>C" "r.(?)" "p.(Phe2108Ser)" "" "0000886572" "00007762" "30" "6253" "0" "6253" "0" "c.6253C>G" "r.(?)" "p.(Pro2085Ala)" "" "0000886573" "00007762" "50" "5500" "0" "5500" "0" "c.5500G>A" "r.(?)" "p.(Glu1834Lys)" "" "0000886574" "00007762" "50" "4423" "0" "4423" "0" "c.4423G>A" "r.(?)" "p.(Glu1475Lys)" "" "0000886575" "00007762" "30" "4329" "0" "4329" "0" "c.4329T>C" "r.(?)" "p.(Asp1443=)" "" "0000886576" "00007762" "90" "4231" "0" "4231" "0" "c.4231G>A" "r.(?)" "p.(Glu1411Lys)" "" "0000886577" "00007762" "50" "4049" "0" "4049" "0" "c.4049G>T" "r.(?)" "p.(Cys1350Phe)" "" "0000886578" "00007762" "50" "3322" "0" "3322" "0" "c.3322A>G" "r.(?)" "p.(Met1108Val)" "" "0000886579" "00007762" "30" "2778" "0" "2778" "0" "c.2778C>T" "r.(?)" "p.(Ala926=)" "" "0000886580" "00007762" "50" "2252" "0" "2252" "0" "c.2252A>C" "r.(?)" "p.(Glu751Ala)" "" "0000886581" "00007762" "30" "1466" "-4" "1466" "-4" "c.1466-4G>A" "r.spl?" "p.?" "" "0000886582" "00007762" "50" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Arg270His)" "" "0000886583" "00007762" "30" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Thr173Ile)" "" "0000909153" "00007762" "30" "1411" "0" "1411" "0" "c.1411G>A" "r.(?)" "p.(Val471Ile)" "" "0000912198" "00007762" "30" "8332" "0" "8332" "0" "c.8332A>C" "r.(?)" "p.(Lys2778Gln)" "" "0000912199" "00007762" "10" "8154" "0" "8154" "0" "c.8154C>T" "r.(?)" "p.(Leu2718=)" "" "0000912200" "00007762" "10" "7296" "0" "7296" "0" "c.7296G>T" "r.(?)" "p.(Gln2432His)" "" "0000912201" "00007762" "30" "6655" "0" "6655" "0" "c.6655A>G" "r.(?)" "p.(Ile2219Val)" "" "0000912202" "00007762" "30" "6637" "18" "6637" "18" "c.6637+18A>G" "r.(=)" "p.(=)" "" "0000912203" "00007762" "10" "5353" "16" "5353" "16" "c.5353+16G>A" "r.(=)" "p.(=)" "" "0000912204" "00007762" "30" "5353" "10" "5353" "10" "c.5353+10C>T" "r.(=)" "p.(=)" "" "0000912205" "00007762" "50" "3980" "0" "3980" "0" "c.3980A>G" "r.(?)" "p.(Asn1327Ser)" "" "0000912206" "00007762" "30" "3767" "0" "3767" "0" "c.3767A>G" "r.(?)" "p.(Gln1256Arg)" "" "0000912207" "00007762" "30" "3655" "0" "3655" "0" "c.3655A>G" "r.(?)" "p.(Met1219Val)" "" "0000912208" "00007762" "50" "3253" "0" "3253" "0" "c.3253A>C" "r.(?)" "p.(Thr1085Pro)" "" "0000912209" "00007762" "30" "3144" "0" "3144" "0" "c.3144C>T" "r.(?)" "p.(Tyr1048=)" "" "0000912210" "00007762" "50" "2218" "0" "2218" "0" "c.2218C>T" "r.(?)" "p.(Pro740Ser)" "" "0000912211" "00007762" "50" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Pro380Leu)" "" "0000912212" "00007762" "30" "826" "15" "826" "15" "c.826+15T>G" "r.(=)" "p.(=)" "" "0000912213" "00007762" "30" "696" "0" "696" "0" "c.696T>C" "r.(?)" "p.(Ile232=)" "" "0000919542" "00007762" "50" "5078" "0" "5079" "0" "c.5078_5079insCAA" "r.(?)" "p.(Ile1693_Asp1694insAsn)" "" "0000924214" "00007762" "30" "7712" "-174" "7712" "-174" "c.7712-174T>G" "r.(=)" "p.(=)" "" "0000924215" "00007762" "30" "6621" "0" "6621" "0" "c.6621T>C" "r.(?)" "p.(Thr2207=)" "" "0000924216" "00007762" "30" "6511" "4" "6511" "4" "c.6511+4C>T" "r.spl?" "p.?" "" "0000924217" "00007762" "30" "6446" "-124" "6446" "-124" "c.6446-124G>A" "r.(=)" "p.(=)" "" "0000924218" "00007762" "30" "5917" "198" "5917" "198" "c.5917+198C>T" "r.(=)" "p.(=)" "" "0000924219" "00007762" "50" "5231" "0" "5231" "0" "c.5231A>G" "r.(?)" "p.(Tyr1744Cys)" "" "0000924220" "00007762" "30" "4879" "204" "4879" "204" "c.4879+204T>C" "r.(=)" "p.(=)" "" "0000924221" "00007762" "30" "3235" "0" "3235" "0" "c.3235G>T" "r.(?)" "p.(Ala1079Ser)" "" "0000924222" "00007762" "50" "3202" "0" "3202" "0" "c.3202C>T" "r.(?)" "p.(Arg1068Trp)" "" "0000924223" "00007762" "30" "2801" "0" "2801" "0" "c.2801G>A" "r.(?)" "p.(Arg934Gln)" "" "0000924224" "00007762" "30" "2555" "-6" "2555" "-6" "c.2555-6T>C" "r.(=)" "p.(=)" "" "0000924225" "00007762" "50" "2303" "0" "2303" "0" "c.2303A>G" "r.(?)" "p.(Asp768Gly)" "" "0000924226" "00007762" "30" "1764" "0" "1764" "0" "c.1764C>T" "r.(?)" "p.(Asn588=)" "" "0000924227" "00007762" "50" "1715" "0" "1715" "0" "c.1715C>G" "r.(?)" "p.(Ala572Gly)" "" "0000924228" "00007762" "30" "1078" "52" "1078" "52" "c.1078+52A>G" "r.(=)" "p.(=)" "" "0000924229" "00007762" "30" "826" "205" "826" "205" "c.826+205G>A" "r.(=)" "p.(=)" "" "0000928996" "00007762" "30" "7139" "-156" "7139" "-156" "c.7139-156A>G" "r.(=)" "p.(=)" "" "0000928997" "00007762" "30" "6512" "-230" "6512" "-230" "c.6512-230C>T" "r.(=)" "p.(=)" "" "0000928998" "00007762" "30" "5549" "-18" "5549" "-18" "c.5549-18G>A" "r.(=)" "p.(=)" "" "0000928999" "00007762" "30" "5423" "-16" "5423" "-16" "c.5423-16A>T" "r.(=)" "p.(=)" "" "0000929000" "00007762" "30" "5423" "-257" "5423" "-257" "c.5423-257G>A" "r.(=)" "p.(=)" "" "0000929001" "00007762" "50" "4407" "0" "4407" "0" "c.4407G>A" "r.(?)" "p.(=)" "" "0000929002" "00007762" "50" "4259" "0" "4259" "0" "c.4259G>A" "r.(?)" "p.(Ser1420Asn)" "" "0000929003" "00007762" "30" "4100" "-61" "4100" "-61" "c.4100-61T>C" "r.(=)" "p.(=)" "" "0000929005" "00007762" "50" "826" "2" "826" "2" "c.826+2T>C" "r.spl?" "p.?" "" "0000932948" "00007762" "30" "4418" "0" "4418" "0" "c.4418G>A" "r.(?)" "p.(Arg1473His)" "" "0000948441" "00007762" "50" "7808" "0" "7808" "0" "c.7808T>C" "r.(?)" "p.(Phe2603Ser)" "" "0000948442" "00007762" "50" "7805" "0" "7805" "0" "c.7805G>A" "r.(?)" "p.(Gly2602Glu)" "" "0000948443" "00007762" "30" "6597" "0" "6597" "0" "c.6597A>G" "r.(?)" "p.(=)" "" "0000948444" "00007762" "50" "6153" "0" "6153" "0" "c.6153C>T" "r.(?)" "p.(=)" "" "0000948445" "00007762" "30" "5918" "-294" "5918" "-294" "c.5918-294G>C" "r.(=)" "p.(=)" "" "0000948446" "00007762" "50" "5800" "5" "5800" "5" "c.5800+5G>A" "r.spl?" "p.?" "" "0000948447" "00007762" "30" "5423" "-94" "5423" "-94" "c.5423-94A>G" "r.(=)" "p.(=)" "" "0000948448" "00007762" "30" "5353" "242" "5353" "242" "c.5353+242G>C" "r.(=)" "p.(=)" "" "0000948449" "00007762" "30" "4717" "173" "4717" "173" "c.4717+173C>T" "r.(=)" "p.(=)" "" "0000948450" "00007762" "30" "4346" "-176" "4346" "-176" "c.4346-176A>G" "r.(=)" "p.(=)" "" "0000948451" "00007762" "50" "3812" "0" "3812" "0" "c.3812G>C" "r.(?)" "p.(Gly1271Ala)" "" "0000948452" "00007762" "30" "3725" "-131" "3725" "-131" "c.3725-131A>C" "r.(=)" "p.(=)" "" "0000948453" "00007762" "50" "3296" "0" "3296" "0" "c.3296G>A" "r.(?)" "p.(Arg1099His)" "" "0000948454" "00007762" "50" "2908" "0" "2908" "0" "c.2908C>T" "r.(?)" "p.(Arg970Cys)" "" "0000948455" "00007762" "30" "2863" "105" "2863" "105" "c.2863+105G>C" "r.(=)" "p.(=)" "" "0000948456" "00007762" "30" "2555" "-139" "2555" "-139" "c.2555-139C>G" "r.(=)" "p.(=)" "" "0000948457" "00007762" "30" "2428" "6" "2428" "6" "c.2428+6T>A" "r.(=)" "p.(=)" "" "0000948458" "00007762" "30" "1849" "77" "1849" "77" "c.1849+77A>G" "r.(=)" "p.(=)" "" "0000948459" "00007762" "50" "1610" "0" "1610" "0" "c.1610A>G" "r.(?)" "p.(Asp537Gly)" "" "0000948460" "00007762" "30" "1500" "0" "1500" "0" "c.1500T>G" "r.(?)" "p.(His500Gln)" "" "0000948461" "00007762" "30" "1011" "0" "1011" "0" "c.1011C>T" "r.(?)" "p.(Thr337=)" "" "0000948462" "00007762" "30" "826" "24" "826" "24" "c.826+24A>G" "r.(=)" "p.(=)" "" "0000948463" "00007762" "50" "811" "0" "811" "0" "c.811A>C" "r.(?)" "p.(Thr271Pro)" "" "0000948464" "00007762" "30" "579" "0" "579" "0" "c.579C>G" "r.(?)" "p.(Pro193=)" "" "0000958909" "00007762" "50" "3430" "0" "3430" "0" "c.3430G>A" "r.(?)" "p.(Glu1144Lys)" "" "0000958968" "00007762" "50" "3216" "0" "3216" "0" "c.3216A>G" "r.spl?" "p.(?,Lys1072=)" "" "0000959153" "00007762" "50" "8058" "0" "8058" "0" "c.8058C>A" "r.(?)" "p.(Phe2686Leu)" "" "0000959183" "00007762" "50" "3253" "0" "3253" "0" "c.3253A>C" "r.(?)" "p.(Thr1085Pro)" "" "0000963394" "00007762" "30" "8365" "-164" "8365" "-164" "c.8365-164A>G" "r.(=)" "p.(=)" "" "0000963395" "00007762" "30" "8365" "-267" "8365" "-267" "c.8365-267G>A" "r.(=)" "p.(=)" "" "0000963396" "00007762" "30" "6637" "121" "6637" "121" "c.6637+121T>G" "r.(=)" "p.(=)" "" "0000963397" "00007762" "30" "6512" "-286" "6512" "-286" "c.6512-286C>T" "r.(=)" "p.(=)" "" "0000963398" "00007762" "30" "6445" "289" "6445" "289" "c.6445+289A>G" "r.(=)" "p.(=)" "" "0000963399" "00007762" "30" "6293" "-241" "6293" "-241" "c.6293-241A>T" "r.(=)" "p.(=)" "" "0000963400" "00007762" "30" "6166" "227" "6166" "227" "c.6166+227A>G" "r.(=)" "p.(=)" "" "0000963401" "00007762" "50" "6077" "0" "6077" "0" "c.6077C>T" "r.(?)" "p.(Ser2026Phe)" "" "0000963402" "00007762" "30" "5675" "-21" "5675" "-21" "c.5675-21A>G" "r.(=)" "p.(=)" "" "0000963403" "00007762" "50" "5519" "0" "5519" "0" "c.5519G>A" "r.(?)" "p.(Ser1840Asn)" "" "0000963404" "00007762" "50" "5267" "0" "5267" "0" "c.5267A>G" "r.(?)" "p.(Asn1756Ser)" "" "0000963405" "00007762" "50" "5191" "0" "5191" "0" "c.5191A>G" "r.(?)" "p.(Asn1731Asp)" "" "0000963406" "00007762" "30" "5075" "-127" "5075" "-127" "c.5075-127C>G" "r.(=)" "p.(=)" "" "0000963407" "00007762" "30" "4879" "282" "4879" "282" "c.4879+282G>T" "r.(=)" "p.(=)" "" "0000963408" "00007762" "50" "4724" "0" "4724" "0" "c.4724G>A" "r.(?)" "p.(Arg1575His)" "" "0000963409" "00007762" "70" "3730" "0" "3730" "0" "c.3730G>C" "r.(?)" "p.(Asp1244His)" "" "0000963410" "00007762" "50" "3566" "0" "3566" "0" "c.3566A>C" "r.(?)" "p.(His1189Pro)" "" "0000963411" "00007762" "30" "2990" "-185" "2990" "-185" "c.2990-185C>T" "r.(=)" "p.(=)" "" "0000963412" "00007762" "30" "2812" "64" "2812" "64" "c.2812+64T>A" "r.(=)" "p.(=)" "" "0000963413" "00007762" "50" "2252" "0" "2252" "0" "c.2252A>C" "r.(?)" "p.(Glu751Ala)" "" "0000963414" "00007762" "50" "1484" "0" "1484" "0" "c.1484T>C" "r.(?)" "p.(Ile495Thr)" "" "0000963415" "00007762" "30" "1465" "247" "1465" "247" "c.1465+247A>C" "r.(=)" "p.(=)" "" "0000963416" "00007762" "30" "1465" "94" "1465" "94" "c.1465+94T>C" "r.(=)" "p.(=)" "" "0000963417" "00007762" "30" "1431" "0" "1431" "0" "c.1431G>A" "r.(?)" "p.(=)" "" "0000963418" "00007762" "30" "1285" "0" "1285" "0" "c.1285A>G" "r.(?)" "p.(Ser429Gly)" "" "0000963419" "00007762" "30" "827" "-270" "827" "-270" "c.827-270G>A" "r.(=)" "p.(=)" "" "0000963420" "00007762" "30" "827" "-318" "827" "-318" "c.827-318A>T" "r.(=)" "p.(=)" "" "0000963421" "00007762" "50" "811" "0" "811" "0" "c.811A>C" "r.(?)" "p.(Thr271Pro)" "" "0000963422" "00007762" "30" "337" "263" "337" "263" "c.337+263T>C" "r.(=)" "p.(=)" "" "0000963423" "00007762" "30" "254" "43" "254" "43" "c.254+43G>A" "r.(=)" "p.(=)" "" "0000963424" "00007762" "50" "254" "2" "254" "2" "c.254+2dup" "r.spl?" "p.?" "" "0000976498" "00007762" "30" "8257" "0" "8257" "0" "c.8257G>A" "r.(?)" "p.(Glu2753Lys)" "" "0000976499" "00007762" "30" "8082" "0" "8082" "0" "c.8082C>A" "r.(?)" "p.(His2694Gln)" "" "0000976500" "00007762" "30" "7960" "189" "7960" "189" "c.7960+189A>T" "r.(=)" "p.(=)" "" "0000976501" "00007762" "30" "7711" "134" "7711" "134" "c.7711+134G>A" "r.(=)" "p.(=)" "" "0000976502" "00007762" "30" "7472" "-333" "7472" "-333" "c.7472-333C>T" "r.(=)" "p.(=)" "" "0000976503" "00007762" "30" "7013" "-147" "7013" "-147" "c.7013-147A>G" "r.(=)" "p.(=)" "" "0000976504" "00007762" "30" "6292" "23" "6292" "23" "c.6292+23T>G" "r.(=)" "p.(=)" "" "0000976505" "00007762" "30" "6166" "202" "6166" "202" "c.6166+202A>C" "r.(=)" "p.(=)" "" "0000976506" "00007762" "50" "6055" "0" "6055" "0" "c.6055G>A" "r.(?)" "p.(Glu2019Lys)" "" "0000976507" "00007762" "50" "5983" "0" "5983" "0" "c.5983G>A" "r.(?)" "p.(Gly1995Ser)" "" "0000976508" "00007762" "30" "5675" "-3" "5675" "-3" "c.5675-3T>C" "r.spl?" "p.?" "" "0000976509" "00007762" "50" "5598" "0" "5598" "0" "c.5598C>G" "r.(?)" "p.(Asp1866Glu)" "" "0000976510" "00007762" "30" "5353" "316" "5353" "316" "c.5353+316A>G" "r.(=)" "p.(=)" "" "0000976511" "00007762" "50" "5015" "0" "5015" "0" "c.5015G>A" "r.(?)" "p.(Ser1672Asn)" "" "0000976512" "00007762" "50" "4594" "8" "4594" "8" "c.4594+8C>G" "r.(=)" "p.(=)" "" "0000976513" "00007762" "50" "4495" "0" "4495" "0" "c.4495A>C" "r.(?)" "p.(Asn1499His)" "" "0000976514" "00007762" "30" "4223" "-164" "4223" "-164" "c.4223-164C>T" "r.(=)" "p.(=)" "" "0000976515" "00007762" "50" "4214" "0" "4214" "0" "c.4214A>T" "r.(?)" "p.(Lys1405Met)" "" "0000976516" "00007762" "50" "3916" "0" "3916" "0" "c.3916dup" "r.(?)" "p.(Tyr1306Leufs*7)" "" "0000976517" "00007762" "50" "3583" "0" "3583" "0" "c.3583C>T" "r.(?)" "p.(Arg1195Cys)" "" "0000976518" "00007762" "50" "3566" "0" "3566" "0" "c.3566A>C" "r.(?)" "p.(His1189Pro)" "" "0000976519" "00007762" "50" "3443" "0" "3443" "0" "c.3443G>C" "r.(?)" "p.(Ser1148Thr)" "" "0000976520" "00007762" "30" "3203" "0" "3203" "0" "c.3203G>A" "r.(?)" "p.(Arg1068Gln)" "" "0000976521" "00007762" "30" "2863" "239" "2863" "239" "c.2863+239G>T" "r.(=)" "p.(=)" "" "0000976522" "00007762" "30" "2863" "57" "2863" "57" "c.2863+57A>G" "r.(=)" "p.(=)" "" "0000976523" "00007762" "50" "2567" "0" "2567" "0" "c.2567G>C" "r.(?)" "p.(Cys856Ser)" "" "0000976524" "00007762" "30" "2554" "148" "2554" "148" "c.2554+148G>A" "r.(=)" "p.(=)" "" "0000976525" "00007762" "30" "2554" "68" "2554" "68" "c.2554+68A>T" "r.(=)" "p.(=)" "" "0000976526" "00007762" "30" "2096" "-175" "2096" "-175" "c.2096-175G>C" "r.(=)" "p.(=)" "" "0000976527" "00007762" "30" "1723" "371" "1723" "371" "c.1723+371C>T" "r.(=)" "p.(=)" "" "0000976528" "00007762" "30" "1543" "0" "1543" "0" "c.1543T>A" "r.(?)" "p.(Ser515Thr)" "" "0000976529" "00007762" "30" "1079" "-211" "1079" "-211" "c.1079-211C>A" "r.(=)" "p.(=)" "" "0000976530" "00007762" "30" "1079" "-217" "1079" "-217" "c.1079-217T>C" "r.(=)" "p.(=)" "" "0000976531" "00007762" "30" "629" "-6" "629" "-6" "c.629-6T>C" "r.(=)" "p.(=)" "" "0000976532" "00007762" "30" "377" "0" "377" "0" "c.377G>A" "r.(?)" "p.(Arg126His)" "" "0000986887" "00007762" "70" "7654" "0" "7654" "0" "c.7654G>C" "r.(?)" "p.(Gly2552Arg)" "60" "0000994600" "00007762" "50" "7613" "0" "7613" "0" "c.7613C>A" "r.(?)" "p.(Thr2538Lys)" "" "0000994601" "00007762" "30" "7594" "223" "7594" "223" "c.7594+223G>A" "r.(=)" "p.(=)" "" "0000994602" "00007762" "50" "7496" "0" "7496" "0" "c.7496C>T" "r.(?)" "p.(Pro2499Leu)" "" "0000994603" "00007762" "30" "7009" "0" "7009" "0" "c.7009G>A" "r.(?)" "p.(Val2337Ile)" "" "0000994604" "00007762" "30" "6558" "0" "6558" "0" "c.6558A>G" "r.(?)" "p.(=)" "" "0000994605" "00007762" "30" "6356" "0" "6356" "0" "c.6356T>C" "r.(?)" "p.(Phe2119Ser)" "" "0000994606" "00007762" "50" "6265" "0" "6265" "0" "c.6265C>A" "r.(?)" "p.(Leu2089Ile)" "" "0000994607" "00007762" "50" "6253" "0" "6253" "0" "c.6253C>T" "r.(?)" "p.(Pro2085Ser)" "" "0000994608" "00007762" "50" "6064" "0" "6064" "0" "c.6064G>A" "r.(?)" "p.(Ala2022Thr)" "" "0000994609" "00007762" "30" "5675" "-8" "5675" "-8" "c.5675-8T>A" "r.(=)" "p.(=)" "" "0000994610" "00007762" "50" "5593" "0" "5593" "0" "c.5593G>T" "r.(?)" "p.(Ala1865Ser)" "" "0000994611" "00007762" "50" "4262" "0" "4262" "0" "c.4262T>A" "r.(?)" "p.(Ile1421Asn)" "" "0000994612" "00007762" "50" "4103" "0" "4103" "0" "c.4103T>C" "r.(?)" "p.(Val1368Ala)" "" "0000994613" "00007762" "10" "4100" "-105" "4100" "-105" "c.4100-105C>T" "r.(=)" "p.(=)" "" "0000994614" "00007762" "50" "3689" "0" "3689" "0" "c.3689G>T" "r.(?)" "p.(Gly1230Val)" "" "0000994615" "00007762" "30" "3322" "0" "3322" "0" "c.3322A>C" "r.(?)" "p.(Met1108Leu)" "" "0000994616" "00007762" "50" "3154" "0" "3154" "0" "c.3154T>C" "r.(?)" "p.(Cys1052Arg)" "" "0000994617" "00007762" "50" "2722" "0" "2722" "0" "c.2722G>A" "r.(?)" "p.(Glu908Lys)" "" "0000994618" "00007762" "50" "2674" "1" "2674" "1" "c.2674+1G>T" "r.spl?" "p.?" "" "0000994619" "00007762" "50" "2479" "0" "2479" "0" "c.2479C>G" "r.(?)" "p.(Arg827Gly)" "" "0000994620" "00007762" "30" "2428" "6" "2428" "6" "c.2428+6T>A" "r.(=)" "p.(=)" "" "0000994621" "00007762" "30" "2427" "0" "2427" "0" "c.2427T>A" "r.(?)" "p.(Ile809=)" "" "0000994622" "00007762" "50" "2095" "4" "2095" "4" "c.2095+4A>C" "r.spl?" "p.?" "" "0000994623" "00007762" "30" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Gln)" "" "0000994624" "00007762" "50" "1216" "0" "1216" "0" "c.1216C>T" "r.(?)" "p.(Pro406Ser)" "" "0000994625" "00007762" "50" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Arg394Cys)" "" "0000994626" "00007762" "50" "811" "0" "811" "0" "c.811A>C" "r.(?)" "p.(Thr271Pro)" "" "0000994627" "00007762" "50" "809" "0" "809" "0" "c.809G>T" "r.(?)" "p.(Arg270Leu)" "" "0000994628" "00007762" "30" "704" "0" "704" "0" "c.704C>T" "r.(?)" "p.(Thr235Met)" "" "0000994629" "00007762" "30" "671" "0" "671" "0" "c.671T>C" "r.(?)" "p.(Met224Thr)" "" "0000994630" "00007762" "10" "436" "16" "436" "16" "c.436+16G>A" "r.(=)" "p.(=)" "" "0000994631" "00007762" "50" "253" "0" "253" "0" "c.253G>C" "r.(?)" "p.(Gly85Arg)" "" "0000994632" "00007762" "50" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Gly53Asp)" "" "0000994633" "00007762" "50" "87" "0" "87" "0" "c.87G>T" "r.(?)" "p.(Gln29His)" "" "0000994634" "00007762" "50" "83" "0" "83" "0" "c.83G>A" "r.(?)" "p.(Gly28Asp)" "" "0000994635" "00007762" "50" "5" "0" "5" "0" "c.5G>A" "r.(?)" "p.(Gly2Glu)" "" "0001007455" "00007762" "70" "7369" "0" "7369" "0" "c.7369C>T" "r.(?)" "p.(Pro2457Ser)" "" "0001007456" "00007762" "70" "5927" "0" "5927" "0" "c.5927A>G" "r.(?)" "p.(Glu1976Gly)" "" "0001007457" "00007762" "70" "4454" "0" "4454" "0" "c.4454A>G" "r.(?)" "p.(Asp1485Gly)" "" "0001007534" "00007762" "70" "2813" "0" "2813" "0" "c.2813A>G" "r.(?)" "p.(Asp938Gly)" "" "0001007538" "00007762" "70" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Glu412Lys)" "" "0001007567" "00007762" "70" "4418" "0" "4418" "0" "c.4418G>A" "r.(?)" "p.(Arg1473His)" "" "0001014054" "00007762" "50" "8676" "0" "8676" "0" "c.8676T>A" "r.(?)" "p.(Asp2892Glu)" "" "0001014055" "00007762" "30" "8586" "0" "8586" "0" "c.8586G>A" "r.(?)" "p.(=)" "" "0001014056" "00007762" "30" "7593" "0" "7593" "0" "c.7593A>G" "r.(?)" "p.(Lys2531=)" "" "0001014057" "00007762" "30" "5548" "20" "5548" "20" "c.5548+20T>C" "r.(=)" "p.(=)" "" "0001014058" "00007762" "30" "5448" "0" "5448" "0" "c.5448A>G" "r.(?)" "p.(Pro1816=)" "" "0001014059" "00007762" "50" "4407" "0" "4407" "0" "c.4407G>A" "r.(?)" "p.(=)" "" "0001014060" "00007762" "10" "3974" "-19" "3974" "-19" "c.3974-19T>C" "r.(=)" "p.(=)" "" "0001014061" "00007762" "70" "3736" "0" "3736" "0" "c.3736T>C" "r.(?)" "p.(Cys1246Arg)" "" "0001014062" "00007762" "50" "3583" "0" "3583" "0" "c.3583C>T" "r.(?)" "p.(Arg1195Cys)" "" "0001014063" "00007762" "50" "3062" "0" "3062" "0" "c.3062G>C" "r.(?)" "p.(Arg1021Pro)" "" "0001014064" "00007762" "30" "2940" "0" "2940" "0" "c.2940C>T" "r.(?)" "p.(Cys980=)" "" "0001014065" "00007762" "30" "2754" "0" "2754" "0" "c.2754T>G" "r.(?)" "p.(=)" "" "0001014066" "00007762" "50" "2084" "0" "2084" "0" "c.2084G>A" "r.(?)" "p.(Arg695His)" "" "0001014067" "00007762" "50" "763" "0" "763" "0" "c.763C>T" "r.(?)" "p.(Pro255Ser)" "" "0001014068" "00007762" "50" "704" "0" "704" "0" "c.704C>T" "r.(?)" "p.(Thr235Met)" "" "0001014069" "00007762" "50" "672" "0" "672" "0" "c.672G>T" "r.(?)" "p.(Met224Ile)" "" "0001017812" "00007762" "50" "8681" "0" "8681" "0" "c.8681A>G" "r.(?)" "p.(Tyr2894Cys)" "" "0001022047" "00007762" "30" "2940" "0" "2940" "0" "c.2940C>T" "r.2940C>T" "p.Cys980=" "23" "0001022049" "00007762" "50" "7841" "-3" "7841" "-3" "c.7841-3C>T" "r.7840_7841=" "p.=" "61i" "0001025006" "00007762" "10" "7841" "-16" "7841" "-16" "c.7841-16G>T" "r.(=)" "p.(=)" "" "0001025007" "00007762" "10" "7824" "0" "7824" "0" "c.7824C>T" "r.(?)" "p.(=)" "" "0001025008" "00007762" "30" "7180" "0" "7180" "0" "c.7180A>G" "r.(?)" "p.(Ile2394Val)" "" "0001025009" "00007762" "30" "6666" "0" "6666" "0" "c.6666G>A" "r.(?)" "p.(Pro2222=)" "" "0001025010" "00007762" "30" "6511" "5" "6511" "5" "c.6511+5G>A" "r.spl?" "p.?" "" "0001025011" "00007762" "50" "5918" "0" "5918" "0" "c.5918A>T" "r.(?)" "p.(Asp1973Val)" "" "0001025012" "00007762" "30" "5496" "0" "5496" "0" "c.5496C>T" "r.(?)" "p.(Arg1832=)" "" "0001025013" "00007762" "30" "4312" "0" "4312" "0" "c.4312G>A" "r.(?)" "p.(Glu1438Lys)" "" "0001025014" "00007762" "30" "4215" "0" "4215" "0" "c.4215G>A" "r.(?)" "p.(=)" "" "0001025015" "00007762" "50" "4141" "0" "4141" "0" "c.4141C>A" "r.(?)" "p.(His1381Asn)" "" "0001025016" "00007762" "50" "3599" "-2" "3599" "-2" "c.3599-2del" "r.spl?" "p.?" "" "0001025017" "00007762" "30" "3472" "17" "3472" "17" "c.3472+17C>A" "r.(=)" "p.(=)" "" "0001025018" "00007762" "30" "3235" "0" "3235" "0" "c.3235G>T" "r.(?)" "p.(Ala1079Ser)" "" "0001025019" "00007762" "50" "1912" "0" "1912" "0" "c.1912A>C" "r.(?)" "p.(Ser638Arg)" "" "0001025020" "00007762" "50" "1720" "0" "1720" "0" "c.1720A>G" "r.(?)" "p.(Ile574Val)" "" "0001025021" "00007762" "50" "1601" "0" "1601" "0" "c.1601T>C" "r.(?)" "p.(Ile534Thr)" "" "0001025022" "00007762" "30" "1194" "0" "1194" "0" "c.1194C>T" "r.(?)" "p.(=)" "" "0001025023" "00007762" "50" "1040" "0" "1040" "0" "c.1040G>A" "r.(?)" "p.(Arg347His)" "" "0001025024" "00007762" "30" "1040" "0" "1040" "0" "c.1040G>A" "r.(?)" "p.(Arg347His)" "" "0001025025" "00007762" "30" "738" "0" "738" "0" "c.738G>A" "r.(?)" "p.(Ala246=)" "" "0001025026" "00007762" "30" "728" "0" "728" "0" "c.728T>C" "r.(?)" "p.(Ile243Thr)" "" "0001030156" "00007762" "50" "6583" "0" "6583" "0" "c.6583C>T" "r.(?)" "p.(Arg2195Cys)" "52" "0001034849" "00007762" "30" "8733" "0" "8733" "0" "c.8733C>G" "r.(?)" "p.(Leu2911=)" "" "0001034850" "00007762" "30" "8282" "0" "8282" "0" "c.8282C>T" "r.(?)" "p.(Ala2761Val)" "" "0001034851" "00007762" "50" "8230" "0" "8230" "0" "c.8230T>G" "r.(?)" "p.(Tyr2744Asp)" "" "0001034852" "00007762" "30" "8082" "0" "8082" "0" "c.8082C>A" "r.(?)" "p.(His2694Gln)" "" "0001034853" "00007762" "50" "7859" "0" "7859" "0" "c.7859G>A" "r.(?)" "p.(Gly2620Glu)" "" "0001034854" "00007762" "30" "7767" "0" "7767" "0" "c.7767A>G" "r.(?)" "p.(=)" "" "0001034855" "00007762" "50" "7658" "0" "7658" "0" "c.7658G>A" "r.(?)" "p.(Gly2553Glu)" "" "0001034856" "00007762" "50" "7606" "0" "7606" "0" "c.7606T>C" "r.(?)" "p.(Cys2536Arg)" "" "0001034857" "00007762" "50" "7184" "0" "7184" "0" "c.7184G>A" "r.(?)" "p.(Cys2395Tyr)" "" "0001034858" "00007762" "50" "6266" "0" "6266" "0" "c.6266T>C" "r.(?)" "p.(Leu2089Pro)" "" "0001034859" "00007762" "30" "5675" "-9" "5675" "-9" "c.5675-9del" "r.(=)" "p.(=)" "" "0001034860" "00007762" "50" "5267" "0" "5267" "0" "c.5267A>G" "r.(?)" "p.(Asn1756Ser)" "" "0001034861" "00007762" "50" "4461" "0" "4461" "0" "c.4461A>T" "r.(?)" "p.(Arg1487Ser)" "" "0001034862" "00007762" "30" "4454" "0" "4454" "0" "c.4454A>G" "r.(?)" "p.(Asp1485Gly)" "" "0001034863" "00007762" "30" "4346" "-307" "4346" "-307" "c.4346-307T>G" "r.(=)" "p.(=)" "" "0001034864" "00007762" "30" "4298" "0" "4298" "0" "c.4298G>A" "r.(?)" "p.(Arg1433His)" "" "0001034865" "00007762" "30" "4246" "0" "4246" "0" "c.4246A>G" "r.(?)" "p.(Thr1416Ala)" "" "0001034866" "00007762" "50" "3805" "0" "3805" "0" "c.3805A>G" "r.(?)" "p.(Ser1269Gly)" "" "0001034867" "00007762" "50" "3656" "0" "3656" "0" "c.3656T>C" "r.(?)" "p.(Met1219Thr)" "" "0001034868" "00007762" "50" "3439" "0" "3439" "0" "c.3439G>A" "r.(?)" "p.(Glu1147Lys)" "" "0001034869" "00007762" "50" "3061" "0" "3061" "0" "c.3061C>T" "r.(?)" "p.(Arg1021Cys)" "" "0001034870" "00007762" "30" "2978" "0" "2978" "0" "c.2978G>A" "r.(?)" "p.(Arg993His)" "" "0001034871" "00007762" "50" "2813" "0" "2813" "0" "c.2813A>G" "r.(?)" "p.(Asp938Gly)" "" "0001034872" "00007762" "50" "2722" "0" "2722" "0" "c.2722G>A" "r.(?)" "p.(Glu908Lys)" "" "0001034873" "00007762" "50" "2363" "0" "2363" "0" "c.2363G>C" "r.(?)" "p.(Arg788Pro)" "" "0001034874" "00007762" "30" "1850" "-253" "1850" "-253" "c.1850-253T>G" "r.(=)" "p.(=)" "" "0001034875" "00007762" "30" "1720" "0" "1720" "0" "c.1720A>G" "r.(?)" "p.(Ile574Val)" "" "0001034876" "00007762" "30" "1644" "0" "1644" "0" "c.1644T>G" "r.(?)" "p.(Asp548Glu)" "" "0001034877" "00007762" "50" "1238" "0" "1238" "0" "c.1238A>G" "r.(?)" "p.(Tyr413Cys)" "" "0001034878" "00007762" "50" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Arg374Cys)" "" "0001034879" "00007762" "30" "1078" "266" "1078" "266" "c.1078+266A>T" "r.(=)" "p.(=)" "" "0001034880" "00007762" "30" "437" "-4" "437" "-4" "c.437-4G>A" "r.spl?" "p.?" "" "0001034881" "00007762" "50" "83" "0" "83" "0" "c.83G>A" "r.(?)" "p.(Gly28Asp)" "" "0001046009" "00007762" "30" "3805" "0" "3805" "0" "c.3805A>G" "r.(?)" "p.(Ser1269Gly)" "" "0001052077" "00007762" "50" "6757" "0" "6757" "0" "c.6757G>C" "r.(?)" "p.(Asp2253His)" "" "0001052078" "00007762" "30" "6663" "0" "6663" "0" "c.6663T>C" "r.(?)" "p.(=)" "" "0001052079" "00007762" "30" "6166" "7" "6166" "7" "c.6166+7G>A" "r.(=)" "p.(=)" "" "0001052080" "00007762" "50" "6011" "0" "6011" "0" "c.6011G>C" "r.(?)" "p.(Gly2004Ala)" "" "0001052081" "00007762" "30" "4983" "0" "4983" "0" "c.4983C>T" "r.(?)" "p.(Cys1661=)" "" "0001052082" "00007762" "30" "4949" "-10" "4949" "-10" "c.4949-10C>T" "r.(=)" "p.(=)" "" "0001052083" "00007762" "50" "4102" "0" "4102" "0" "c.4102G>A" "r.(?)" "p.(Val1368Met)" "" "0001052084" "00007762" "30" "3975" "0" "3975" "0" "c.3975T>C" "r.(?)" "p.(=)" "" "0001052085" "00007762" "50" "2507" "0" "2507" "0" "c.2507C>T" "r.(?)" "p.(Thr836Met)" "" "0001052086" "00007762" "50" "2432" "0" "2432" "0" "c.2432T>C" "r.(?)" "p.(Ile811Thr)" "" "0001052087" "00007762" "30" "2248" "4" "2248" "4" "c.2248+4G>C" "r.spl?" "p.?" "" "0001052088" "00007762" "50" "756" "0" "756" "0" "c.756G>T" "r.(?)" "p.(Glu252Asp)" "" "0001052089" "00007762" "50" "170" "0" "170" "0" "c.170G>T" "r.(?)" "p.(Gly57Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 128 "{{screeningid}}" "{{variantid}}" "0000050520" "0000079500" "0000065305" "0000096982" "0000104202" "0000168859" "0000133644" "0000222896" "0000156152" "0000358054" "0000226737" "0000459776" "0000245970" "0000498178" "0000267062" "0000597927" "0000294883" "0000651572" "0000294884" "0000651573" "0000294885" "0000651574" "0000294886" "0000651575" "0000294887" "0000651576" "0000294888" "0000651577" "0000296373" "0000653062" "0000297803" "0000701791" "0000306135" "0000669823" "0000307323" "0000673941" "0000308367" "0000675325" "0000316677" "0000698839" "0000325867" "0000709023" "0000325867" "0000709024" "0000363232" "0000763752" "0000363234" "0000763767" "0000363483" "0000764171" "0000363483" "0000764172" "0000391881" "0000821947" "0000391883" "0000821950" "0000391884" "0000821951" "0000391885" "0000821952" "0000391886" "0000821953" "0000391887" "0000821954" "0000391888" "0000821955" "0000391889" "0000821956" "0000391890" "0000821957" "0000391891" "0000821958" "0000391892" "0000821959" "0000391893" "0000821960" "0000391894" "0000821961" "0000391895" "0000821962" "0000391896" "0000821963" "0000391897" "0000821964" "0000391898" "0000821965" "0000391899" "0000821966" "0000391900" "0000821967" "0000391901" "0000821968" "0000391902" "0000821969" "0000391903" "0000821970" "0000391904" "0000821971" "0000391905" "0000821972" "0000391906" "0000821973" "0000391907" "0000821974" "0000391908" "0000821975" "0000391909" "0000821976" "0000391910" "0000821977" "0000391911" "0000821978" "0000391912" "0000821979" "0000391913" "0000821980" "0000391914" "0000821981" "0000391915" "0000821982" "0000391916" "0000821983" "0000391917" "0000821984" "0000391918" "0000821985" "0000391919" "0000821986" "0000391920" "0000821987" "0000391921" "0000821988" "0000391922" "0000821989" "0000391923" "0000821990" "0000391924" "0000821991" "0000391925" "0000821992" "0000391926" "0000821993" "0000391927" "0000821994" "0000391928" "0000821995" "0000391929" "0000821996" "0000391930" "0000821997" "0000391931" "0000821998" "0000391932" "0000821999" "0000391933" "0000822000" "0000391934" "0000822001" "0000391935" "0000822002" "0000391936" "0000822003" "0000391937" "0000822004" "0000391938" "0000822005" "0000391939" "0000822006" "0000391940" "0000822007" "0000391941" "0000822008" "0000391942" "0000822009" "0000391943" "0000822010" "0000391944" "0000822011" "0000391945" "0000822012" "0000391946" "0000822013" "0000391947" "0000822014" "0000391948" "0000822015" "0000391949" "0000822016" "0000391950" "0000822017" "0000399338" "0000831699" "0000399339" "0000831700" "0000399340" "0000831701" "0000399388" "0000831813" "0000399393" "0000831754" "0000399394" "0000831755" "0000399395" "0000831756" "0000399396" "0000831757" "0000399397" "0000831758" "0000399398" "0000831759" "0000399399" "0000831760" "0000399400" "0000831761" "0000399401" "0000831762" "0000399402" "0000831763" "0000399579" "0000832160" "0000400526" "0000833439" "0000415677" "0000873528" "0000420812" "0000881171" "0000433895" "0000919542" "0000448953" "0000959153" "0000448970" "0000959183" "0000449142" "0000958909" "0000449201" "0000958968" "0000452364" "0000986887" "0000455346" "0001007534" "0000455348" "0001007455" "0000455349" "0001007456" "0000455350" "0001007457" "0000455354" "0001007538" "0000455421" "0001007567" "0000462520" "0001022047" "0000462522" "0001022049" "0000466250" "0001030156"