### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = LTBP2)
# 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}}"
"LTBP2"	"latent transforming growth factor beta binding protein 2"	"14"	"q24.3"	"unknown"	"NG_021486.1"	"UD_132118878604"	""	"http://www.LOVD.nl/LTBP2"	""	"1"	"6715"	"4053"	"602091"	"1"	"1"	"1"	"1"	"Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"http://databases.lovd.nl/shared/refseq/LTBP2_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2010-04-29 00:00:00"	"00006"	"2016-10-14 13:57:32"	"00000"	"2025-05-05 21:14:00"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00011552"	"LTBP2"	"latent transforming growth factor beta binding protein 2"	"001"	"NM_000428.2"	""	"NP_000419.1"	""	""	""	"-387"	"8167"	"5466"	"75079034"	"74964886"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 9
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"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"
"01924"	"MSPKA"	"microspherophakia and/or megalocornea, with ectopia lentis, with/without secondary glaucoma  (MSPKA)"	"AR"	"251750"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02331"	"GLC3B"	"glaucoma, congenital, primary infantile, type 3B (GLC-3B)"	""	"600975"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"03246"	"GLC3D"	"glaucoma, congenital, primary, type 3D (GLC-3D)"	""	"613086"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"03734"	"WMS3"	"Weill-Marchesani syndrome, type 3 (WMS-3)"	"AR"	"614819"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"05155"	"OPLL"	"ossification, posterior longitudinal ligament spine (OPLL)"	""	""	""	""	""	"00006"	"2016-04-14 16:02:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{geneid}}"	"{{diseaseid}}"
"LTBP2"	"01924"
"LTBP2"	"02331"
"LTBP2"	"03246"
"LTBP2"	"03734"


## Individuals ## Do not remove or alter this header ##
## Count = 52
"{{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}}"
"00036088"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036089"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036090"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036091"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036092"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036093"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036094"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036095"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036096"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036097"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036098"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036099"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036100"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036101"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036102"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036103"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00081432"	""	""	""	"1"	""	"01783"	""	""	""	""	"China"	""	"0"	""	""	"Han"	""
"00240033"	""	""	""	"3"	""	"01450"	"{PMID:Ali 2009:19361779}"	"5-generation family, 3 affecteds"	""	""	"Pakistan"	""	"0"	""	""	""	""
"00240034"	""	""	""	"4"	""	"01450"	"{PMID:Ali 2009:19361779}"	"4-generation family, 4 affecteds"	""	""	"Pakistan"	""	"0"	""	""	""	""
"00240035"	""	""	""	"5"	""	"01450"	"{PMID:Ali 2009:19361779}, {PMID:Firasat 2008:18776954}"	"6-generation family, 5 affecteds"	""	""	""	""	"0"	""	""	"Gypsy"	""
"00240036"	""	""	""	"1"	""	"01450"	"{PMID: Désir 2010:20179738}"	"unaffected carrier parents"	""	""	"Macedonia"	""	"0"	""	""	"gypsy"	""
"00240037"	""	""	""	"5"	""	"01450"	"{PMID:Azmanov 2010:21081970}"	"5-generation consanguineous family, 5 affecteds, unaffected carriers"	""	""	""	""	"0"	""	""	"Gypsy"	""
"00240038"	""	""	""	"25"	""	"01450"	"{PMID:Azmanov 2010:21081970}"	"unrelated families"	""	""	""	""	"0"	""	""	"Gypsy"	""
"00240039"	""	""	""	"6"	""	"01450"	"{PMID:Khan 2011:22025892}"	"2-generation family, 6 affecteds, unaffected carriers"	""	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00240040"	""	""	""	"1"	""	"00000"	""	""	""	""	""	""	"0"	""	""	"Gypsy"	""
"00240041"	""	""	""	"6"	""	"01450"	"{PMID:Ali 2009:19361779}"	"6-generation family, 6 affecteds"	""	""	"Pakistan"	""	"0"	""	""	""	""
"00240042"	""	""	""	"2"	""	"01450"	"{PMID: Narooie-Nejad 2009:19656777}"	"2-generation family, 2 affecteds"	""	""	"Iran"	""	"0"	""	""	""	""
"00240043"	""	""	""	"1"	""	"00000"	""	""	""	""	""	""	"0"	""	""	"Gypsy"	""
"00240044"	""	""	""	"1"	""	"00000"	""	""	""	""	""	""	"0"	""	""	"Gypsy"	""
"00240045"	""	""	""	"1"	""	"01450"	""	""	"M"	""	"Iran"	""	"0"	""	""	"Iranian"	""
"00240046"	""	""	""	"1"	""	"00000"	""	""	""	""	""	""	"0"	""	""	""	""
"00240047"	""	""	""	"3"	""	"01450"	"{PMID: Désir 2010:20179738}"	"6-generation family, 3 affecteds, unaffected carriers"	""	""	"Morocco"	""	"0"	""	""	""	""
"00240048"	""	""	""	"1"	""	"00000"	""	""	""	""	""	""	"0"	""	""	"Gypsy"	""
"00240049"	""	""	""	"1"	""	"00000"	""	""	""	""	""	""	"0"	""	""	"Gypsy"	""
"00240050"	""	""	""	"1"	""	"00000"	""	""	""	""	""	""	"0"	""	""	"Gypsy"	""
"00240051"	""	""	""	"1"	""	"00000"	"{PMID: Narooie-Nejad 2009:19656777}"	"2-generation family, 1 affected"	""	""	"Iran"	""	"0"	""	""	""	""
"00240052"	""	""	""	"3"	""	"00000"	""	""	""	""	"Iran"	""	"0"	""	""	""	""
"00240053"	""	""	""	"3"	""	"01450"	"{PMID: Kumar 2010:20617341}"	"4-generation consanguineous family, 3 affecteds, unaffected carriers"	""	""	"India"	""	"0"	""	""	""	""
"00240054"	""	""	""	"1"	""	"00000"	"{PMID: Kumar 2010:20617341}"	"4-generation consanguineous family, 2 affecteds (1 heterozygous for LBTP2:c.3262G>A), unaffected carriers"	""	""	"India"	""	"0"	""	""	""	""
"00240055"	""	""	""	"1"	""	"00000"	"{PMID:Azmanov 2010:21081970}"	"isolated patient"	""	""	""	""	"0"	""	""	"Gypsy"	""
"00240056"	""	""	""	"1"	""	"00000"	"{PMID:Azmanov 2010:21081970}"	"isolated patient"	""	""	""	""	"0"	""	""	"Gypsy"	""
"00240057"	""	""	""	"1"	""	"01450"	""	""	"M"	""	"Iran"	""	"0"	""	""	"Iranian"	""
"00240058"	""	""	""	"2"	""	"01450"	"{PMID:Khan 2011:22025892}"	"2-generation family, 2 affecteds, unaffected carriers"	""	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00240059"	""	""	""	"2"	""	"01450"	"{PMID:Khan 2011:22025892}"	"2-generation family, 2 affecteds, unaffected carriers"	""	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00240060"	""	""	""	"10"	""	"01450"	"{PMID: Narooie-Nejad 2009:19656777}"	"6-generation family, 10 affecteds"	""	""	"Iran"	""	"0"	""	""	""	""
"00291112"	""	""	""	"7"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291113"	""	""	""	"18"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00382117"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2019:30653986}"	""	"?"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"205"
"00385456"	""	""	""	"1"	""	"00000"	"{PMID:Lenassi 2020:31848469}"	"retrospective analysis"	"M"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"13013898"
"00385483"	""	""	""	"1"	""	"00000"	"{PMID:Lenassi 2020:31848469}"	"retrospective analysis"	"F"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"15022428"
"00385493"	""	""	""	"1"	""	"00000"	"{PMID:Lenassi 2020:31848469}"	"retrospective analysis"	"F"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"16012251"
"00444098"	""	""	""	"1"	""	"04613"	"2-generation family, affected fetus/boy, unaffected heterozygous carrier parents"	"{PMID:Bayam 2024:39609633}"	"M"	"yes"	"Saudi Arabia"	""	"0"	""	""	"Arab"	"Fam3PatII2"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 38
"{{individualid}}"	"{{diseaseid}}"
"00036094"	"00198"
"00036095"	"00198"
"00081432"	"05155"
"00240033"	"03246"
"00240034"	"03246"
"00240035"	"03246"
"00240036"	"01924"
"00240037"	"03246"
"00240038"	"03246"
"00240039"	"01924"
"00240040"	"03246"
"00240041"	"03246"
"00240042"	"03246"
"00240043"	"03246"
"00240044"	"03246"
"00240045"	"00239"
"00240046"	"00000"
"00240047"	"01924"
"00240048"	"03246"
"00240049"	"03246"
"00240050"	"03246"
"00240051"	"03246"
"00240052"	"03246"
"00240053"	"01924"
"00240054"	"01924"
"00240055"	"03246"
"00240056"	"03246"
"00240057"	"03734"
"00240058"	"01924"
"00240059"	"01924"
"00240060"	"03246"
"00291112"	"00198"
"00291113"	"00198"
"00382117"	"03246"
"00385456"	"04214"
"00385483"	"04214"
"00385493"	"04214"
"00444098"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00239, 01924, 02331, 03246, 03734, 04214, 05155
## Count = 36
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000061034"	"05155"	"00081432"	"01783"	"Unknown"	""	"thoracic ossification of the ligamentum flavum;\r\nlong regional at the thoracic spine"	""	""	""	""	""	""	""	""	""	""	""
"0000156347"	"00198"	"00036094"	"01164"	"Unknown"	""	"Sphärophakie"	""	""	""	""	""	""	""	""	""	"spherophakia"	""
"0000156348"	"00198"	"00036095"	"01164"	"Unknown"	""	"Sphärophakie"	""	""	""	""	""	""	""	""	""	"spherophakia"	""
"0000180198"	"03246"	"00240033"	"00008"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000180199"	"03246"	"00240034"	"00008"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000180200"	"03246"	"00240035"	"00008"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000180201"	"01924"	"00240036"	"01450"	"Familial, autosomal recessive"	""	"spherophakia, megalocornea, secondary glaucoma"	""	""	""	""	""	""	""	""	""	""	""
"0000180202"	"03246"	"00240037"	"00008"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000180203"	"03246"	"00240038"	"00008"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000180204"	"01924"	"00240039"	"01450"	"Familial, autosomal recessive"	""	"megalocornea, spherophakia; Ectopia Lentis; glaucoma, secondary"	""	""	""	""	""	""	""	""	""	""	""
"0000180205"	"03246"	"00240040"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000180206"	"03246"	"00240041"	"00008"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000180207"	"03246"	"00240042"	"00008"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000180208"	"03246"	"00240043"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000180209"	"03246"	"00240044"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000180210"	"00239"	"00240045"	"01450"	"Unknown"	""	"ectopia lentis, retinal detachment, mitral valve prolapse, severe pectus excavatum; wrist and thumb sign, plain flat foot, reduced upper segment/lower segment and increased armspan/height"	"00d"	""	""	""	""	""	""	""	""	""	""
"0000180211"	"00000"	"00240046"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000180212"	"01924"	"00240047"	"01450"	"Familial, autosomal recessive"	""	"spherophakia, megalocornea, secondary glaucoma"	""	""	""	""	""	""	""	""	""	""	""
"0000180213"	"03246"	"00240048"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000180214"	"03246"	"00240049"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000180215"	"03246"	"00240050"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000180216"	"03246"	"00240051"	"00008"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000180217"	"03246"	"00240052"	"00008"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000180218"	"01924"	"00240053"	"01450"	"Unknown"	""	"microspherophakia, isolated; Ectopia Lentis"	""	""	""	""	""	""	""	""	""	""	""
"0000180219"	"01924"	"00240054"	"01450"	"Unknown"	""	"microspherophakia, isolated; Ectopia Lentis"	""	""	""	""	""	""	""	""	""	""	""
"0000180220"	"03246"	"00240055"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000180221"	"03246"	"00240056"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000180222"	"03734"	"00240057"	"01450"	"Familial, autosomal recessive"	""	"Ectopia Lentis, microspherophakia, shallow anterior chamber-severe myopia, short stature, brachydactyly, joint stiffness, pulmonary stenosis, aortic stenosis"	"00d"	""	""	""	""	""	""	""	""	""	""
"0000180223"	"01924"	"00240058"	"01450"	"Familial, autosomal recessive"	""	"megalocornea, spherophakia; Ectopia Lentis; glaucoma, secondary"	""	""	""	""	""	""	""	""	""	""	""
"0000180224"	"01924"	"00240059"	"01450"	"Familial, autosomal recessive"	""	"megalocornea, spherophakia; Ectopia Lentis; glaucoma, secondary"	""	""	""	""	""	""	""	""	""	""	""
"0000180225"	"03246"	"00240060"	"00008"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000275959"	"03246"	"00382117"	"00000"	"Familial, autosomal recessive"	""	"anterior segment developmental anomalies including glaucoma; MIM, 613086"	""	""	""	""	""	""	""	""	""	"MIM, 613086"	""
"0000279251"	"04214"	"00385456"	"00000"	"Familial, autosomal recessive"	""	""	"<1y"	""	""	""	""	""	""	""	"bilateral anterior segment dysgenesis (ASD) including congenital glaucoma"	"megalocornea; glaucoma"	""
"0000279278"	"04214"	"00385483"	"00000"	"Familial, autosomal recessive"	""	""	"3y"	""	""	""	""	""	""	""	"bilateral ectopia lentis (n=8)"	"ectopia lentis"	""
"0000279288"	"04214"	"00385493"	"00000"	"Familial, autosomal recessive"	""	""	"1y"	""	""	""	""	""	""	""	"bilateral ectopia lentis (n=8)"	"ectopia lentis"	""
"0000337675"	"00198"	"00444098"	"04613"	"Familial, autosomal recessive"	"03y03m"	"see paper; ..., pregnancy unremarkable; birth term, C-section, weight 3.09kg, length 52cm, OFC 34cm (-0.9 SD); weight 10.5kg (-2.98 SD), length 92cm (-1.32 SD), OFC 44cm (-3.7 SD); global developmental delay; not walking;  no clear words; MRI brain 1y-widening bilateral ventricles, basal cisterns and cereberal cortical sulci suggestive of global brain volume loss, periventricular abnormal high signal intensity FLAIR, T1 and T2-weighted images  suggestive of periventricular leukomalacia, bbrain appears small in size (microcephaly), corpus callosum very thin; EEG slow background activity, generalized and predominantly anterior spikes of epileptic discharge; no coordination; initial infantile hypotonia progressed to hypertonia/spasticity; hyperreflexia; not able to stand or walk; normal sensory; profound intellectual disability; myoclonic seizures then mixed seizures; persistent head lag, abnormality of ocular smooth pursuit; hypertelorism, medial flaring eye browes, thick upper and lower lips, elevated ear lobules, low auricle; flexion deformity at both ankles/wrists; no anomalies digestive organs; no hert defects; mild hydronephrotic changes in infantile period with normal renal biochemical function; older sibling 6y-deceased, severe neurodevelopmental disease, seizures"	""	""	""	""	""	""	""	""	"microcephaly"	"lissencephaly"	""


## Screenings ## Do not remove or alter this header ##
## Count = 52
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000036158"	"00036088"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036159"	"00036089"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036160"	"00036090"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036161"	"00036091"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036162"	"00036092"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036163"	"00036093"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036164"	"00036094"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036165"	"00036095"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036166"	"00036096"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036167"	"00036097"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036168"	"00036098"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036169"	"00036099"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036170"	"00036100"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036171"	"00036101"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036172"	"00036102"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036173"	"00036103"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000081565"	"00081432"	"1"	"01783"	"01783"	"2016-10-14 03:35:28"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000241137"	"00240033"	"1"	"01450"	"01450"	"2012-03-14 11:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000241138"	"00240034"	"1"	"01450"	"01450"	"2012-03-14 11:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000241139"	"00240035"	"1"	"01450"	"01450"	"2012-03-14 11:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000241140"	"00240036"	"1"	"01450"	"01450"	"2012-03-14 11:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000241141"	"00240037"	"1"	"01450"	"01450"	"2012-03-14 11:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000241142"	"00240038"	"1"	"01450"	"01450"	"2012-03-14 11:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000241143"	"00240039"	"1"	"01450"	"01450"	"2012-03-14 11:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000241144"	"00240040"	"1"	"00000"	"00006"	"2012-03-16 20:00:59"	""	""	"SEQ"	"DNA"	""	""
"0000241145"	"00240041"	"1"	"01450"	"01450"	"2012-03-14 11:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000241146"	"00240042"	"1"	"01450"	"01450"	"2012-03-14 11:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000241147"	"00240043"	"1"	"00000"	"00006"	"2012-03-16 20:00:59"	""	""	"SEQ"	"DNA"	""	""
"0000241148"	"00240044"	"1"	"00000"	"00006"	"2012-03-16 20:00:59"	""	""	"SEQ"	"DNA"	""	""
"0000241149"	"00240045"	"1"	"01450"	"01450"	"2012-02-21 22:21:43"	"00006"	"2012-02-24 10:00:30"	"SEQ"	"DNA"	""	""
"0000241150"	"00240046"	"1"	"00000"	"00006"	"2012-03-16 20:00:59"	""	""	"SEQ"	"DNA"	""	""
"0000241151"	"00240047"	"1"	"01450"	"01450"	"2012-03-14 11:36:51"	"00006"	"2020-07-14 15:21:14"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000241152"	"00240048"	"1"	"00000"	"00006"	"2012-03-16 20:00:59"	""	""	"SEQ"	"DNA"	""	""
"0000241153"	"00240049"	"1"	"00000"	"00006"	"2012-03-16 20:00:59"	""	""	"SEQ"	"DNA"	""	""
"0000241154"	"00240050"	"1"	"00000"	"00006"	"2012-03-16 20:00:59"	""	""	"SEQ"	"DNA"	""	""
"0000241155"	"00240051"	"1"	"00000"	"00006"	"2012-03-16 20:00:59"	""	""	"SEQ"	"DNA"	""	""
"0000241156"	"00240052"	"1"	"00000"	"00006"	"2012-03-16 20:00:59"	""	""	"SEQ"	"DNA"	""	""
"0000241157"	"00240053"	"1"	"01450"	"01450"	"2012-03-14 11:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000241158"	"00240054"	"1"	"00000"	"00006"	"2012-03-16 20:00:59"	""	""	"SEQ"	"DNA"	""	""
"0000241159"	"00240055"	"1"	"00000"	"00006"	"2012-03-16 20:00:59"	""	""	"SEQ"	"DNA"	""	""
"0000241160"	"00240056"	"1"	"00000"	"00006"	"2012-03-16 20:00:59"	""	""	"SEQ"	"DNA"	""	""
"0000241161"	"00240057"	"1"	"01450"	"01450"	"2012-02-21 21:30:25"	"00006"	"2012-02-22 09:51:33"	"SEQ"	"DNA"	""	""
"0000241162"	"00240058"	"1"	"01450"	"01450"	"2012-03-14 11:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000241163"	"00240059"	"1"	"01450"	"01450"	"2012-03-14 11:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000241164"	"00240060"	"1"	"01450"	"01450"	"2012-03-14 11:36:51"	""	""	"SEQ"	"DNA"	""	""
"0000292280"	"00291112"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292281"	"00291113"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000383333"	"00382117"	"1"	"00000"	"03840"	"2021-09-07 10:12:12"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000386685"	"00385456"	"1"	"00000"	"03840"	"2021-10-12 17:40:23"	""	""	"SEQ-NG"	"DNA"	"blood"	"114 genes panel tested"
"0000386712"	"00385483"	"1"	"00000"	"03840"	"2021-10-12 17:40:23"	""	""	"SEQ-NG"	"DNA"	"blood"	"144 genes panel tested"
"0000386722"	"00385493"	"1"	"00000"	"03840"	"2021-10-12 17:40:23"	""	""	"SEQ-NG"	"DNA"	"blood"	"114 genes panel tested"
"0000445596"	"00444098"	"1"	"04613"	"04613"	"2023-12-17 17:21:22"	""	""	"SEQ-NG-I"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 49
"{{screeningid}}"	"{{geneid}}"
"0000036158"	"LTBP2"
"0000036159"	"LTBP2"
"0000036160"	"LTBP2"
"0000036161"	"LTBP2"
"0000036162"	"LTBP2"
"0000036163"	"LTBP2"
"0000036164"	"LTBP2"
"0000036165"	"LTBP2"
"0000036166"	"LTBP2"
"0000036167"	"LTBP2"
"0000036168"	"LTBP2"
"0000036169"	"LTBP2"
"0000036170"	"LTBP2"
"0000036171"	"LTBP2"
"0000036172"	"LTBP2"
"0000036173"	"LTBP2"
"0000081565"	"LTBP2"
"0000241137"	"LTBP2"
"0000241138"	"LTBP2"
"0000241139"	"LTBP2"
"0000241140"	"LTBP2"
"0000241141"	"LTBP2"
"0000241142"	"LTBP2"
"0000241143"	"LTBP2"
"0000241144"	"LTBP2"
"0000241145"	"LTBP2"
"0000241146"	"LTBP2"
"0000241147"	"LTBP2"
"0000241148"	"LTBP2"
"0000241149"	"LTBP2"
"0000241150"	"LTBP2"
"0000241151"	"LTBP2"
"0000241152"	"LTBP2"
"0000241153"	"LTBP2"
"0000241154"	"LTBP2"
"0000241155"	"LTBP2"
"0000241156"	"LTBP2"
"0000241157"	"LTBP2"
"0000241158"	"LTBP2"
"0000241159"	"LTBP2"
"0000241160"	"LTBP2"
"0000241161"	"LTBP2"
"0000241162"	"LTBP2"
"0000241163"	"LTBP2"
"0000241164"	"LTBP2"
"0000383333"	"LTBP2"
"0000386685"	"LTBP2"
"0000386712"	"LTBP2"
"0000386722"	"LTBP2"


## 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 = 239
"{{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}}"
"0000063283"	"1"	"10"	"14"	"74999108"	"74999108"	"subst"	"0.274256"	"01164"	"LTBP2_000028"	"g.74999108C>T"	""	""	""	""	""	"Germline"	""	"rs862025"	"0"	""	""	"g.74532405C>T"	""	"benign"	""
"0000063284"	"1"	"10"	"14"	"74992861"	"74992861"	"subst"	"0.304549"	"01164"	"LTBP2_000029"	"g.74992861A>C"	""	""	""	""	""	"Germline"	""	"rs699375"	"0"	""	""	"g.74526158A>C"	""	"benign"	""
"0000063285"	"1"	"10"	"14"	"74992800"	"74992800"	"subst"	"0.3043"	"01164"	"LTBP2_000030"	"g.74992800A>G"	""	""	""	""	""	"Germline"	""	"rs699374"	"0"	""	""	"g.74526097A>G"	""	"benign"	""
"0000063286"	"1"	"10"	"14"	"75002607"	"75002607"	"subst"	"0.22188"	"01164"	"LTBP2_000031"	"g.75002607G>T"	""	""	""	""	""	"Germline"	""	"rs3742794"	"0"	""	""	"g.74535904G>T"	""	"benign"	""
"0000063287"	"1"	"50"	"14"	"74971653"	"74971663"	"del"	"0"	"01164"	"LTBP2_000032"	"g.74971653_74971663del"	"MAF:0,057"	""	""	""	""	"Germline"	""	"rs36016624"	"0"	""	""	"g.74504950_74504960del"	""	"VUS"	""
"0000063288"	"1"	"10"	"14"	"74983492"	"74983492"	"subst"	"0"	"01164"	"LTBP2_000033"	"g.74983492T>G"	""	""	""	""	""	"Germline"	""	"rs2302115"	"0"	""	""	"g.74516789T>G"	""	"benign"	""
"0000063289"	"1"	"90"	"14"	"75052703"	"75052703"	"del"	"0"	"01164"	"LTBP2_000034"	"g.75052703del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.74586000del"	""	"pathogenic"	""
"0000063290"	"1"	"90"	"14"	"75017847"	"75017847"	"del"	"0"	"01164"	"LTBP2_000035"	"g.75017847del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.74551144del"	""	"pathogenic"	""
"0000063291"	"1"	"10"	"14"	"74972942"	"74972942"	"subst"	"0.168899"	"01164"	"LTBP2_000036"	"g.74972942G>A"	""	""	""	""	""	"Germline"	""	"rs2286411"	"0"	""	""	"g.74506239G>A"	""	"benign"	""
"0000063292"	"1"	"10"	"14"	"74973591"	"74973592"	"del"	"0"	"01164"	"LTBP2_000037"	"g.74973591_74973592del"	""	""	""	""	""	"Germline"	""	"rs142330216"	"0"	""	""	"g.74506888_74506889del"	""	"benign"	""
"0000063293"	"1"	"10"	"14"	"74991959"	"74991959"	"subst"	"0.333959"	"01164"	"LTBP2_000038"	"g.74991959T>C"	""	""	""	""	""	"Germline"	""	"rs862030"	"0"	""	""	"g.74525256T>C"	""	"benign"	""
"0000063294"	"1"	"10"	"14"	"75019157"	"75019157"	"subst"	"0"	"01164"	"LTBP2_000039"	"g.75019157T>C"	""	""	""	""	""	"Germline"	""	"rs11622992"	"0"	""	""	"g.74552454T>C"	""	"benign"	""
"0000063295"	"1"	"10"	"14"	"74983495"	"74983495"	"del"	"0"	"01164"	"LTBP2_000040"	"g.74983495del"	""	""	""	""	""	"Germline"	""	"rs3214268"	"0"	""	""	"g.74516792del"	""	"benign"	""
"0000063296"	"1"	"10"	"14"	"74991855"	"74991855"	"subst"	"0.671583"	"01164"	"LTBP2_000041"	"g.74991855A>G"	""	""	""	""	"Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message."	"Germline"	""	"rs862031"	"0"	""	""	"g.74525152A>G"	""	"benign"	""
"0000063297"	"1"	"10"	"14"	"74983495"	"74983495"	"subst"	"0.375209"	"01164"	"LTBP2_000042"	"g.74983495C>G"	""	""	""	""	""	"Germline"	""	"rs63395061"	"0"	""	""	"g.74516792C>G"	""	"benign"	""
"0000063298"	"1"	"10"	"14"	"75018086"	"75018086"	"subst"	"0.0498324"	"01164"	"LTBP2_000043"	"g.75018086A>G"	""	""	""	""	""	"Germline"	""	"rs55971017"	"0"	""	""	"g.74551383A>G"	""	"benign"	""
"0000132228"	"0"	"50"	"14"	"74971826"	"74971826"	"subst"	"2.44469E-5"	"01783"	"LTBP2_000026"	"g.74971826C>T"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.74505123C>T"	""	"VUS"	""
"0000132229"	"0"	"50"	"14"	"75017772"	"75017772"	"subst"	"7.7429E-5"	"01783"	"LTBP2_000027"	"g.75017772C>T"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.74551069C>T"	""	"VUS"	""
"0000248311"	"0"	"10"	"14"	"74991855"	"74991855"	"subst"	"0.671583"	"02325"	"LTBP2_000041"	"g.74991855A>G"	""	""	""	"LTBP2(NM_000428.3):c.2502T>C (p.T834=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74525152A>G"	""	"benign"	""
"0000250046"	"0"	"10"	"14"	"74991855"	"74991855"	"subst"	"0.671583"	"02329"	"LTBP2_000041"	"g.74991855A>G"	""	""	""	"LTBP2(NM_000428.3):c.2502T>C (p.T834=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74525152A>G"	""	"benign"	""
"0000250121"	"0"	"10"	"14"	"74992800"	"74992800"	"subst"	"0.3043"	"02329"	"LTBP2_000030"	"g.74992800A>G"	""	""	""	"LTBP2(NM_000428.3):c.2406T>C (p.T802=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74526097A>G"	""	"benign"	""
"0000283590"	"0"	"10"	"14"	"75022192"	"75022192"	"subst"	"0.0176892"	"02329"	"LTBP2_000059"	"g.75022192C>T"	""	""	""	"LTBP2(NM_000428.3):c.1021+14G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74555489C>T"	""	"benign"	""
"0000283591"	"0"	"10"	"14"	"75019002"	"75019002"	"subst"	"0.0594617"	"02329"	"LTBP2_000058"	"g.75019002C>T"	""	""	""	"LTBP2(NM_000428.3):c.1287G>A (p.L429=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74552299C>T"	""	"benign"	""
"0000283592"	"0"	"10"	"14"	"75002720"	"75002720"	"subst"	"0.00943296"	"02329"	"LTBP2_000056"	"g.75002720C>T"	""	""	""	"LTBP2(NM_000428.3):c.1790-17G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74536017C>T"	""	"benign"	""
"0000283593"	"0"	"90"	"14"	"74994061"	"74994061"	"subst"	"4.17913E-6"	"02329"	"LTBP2_000055"	"g.74994061G>A"	""	""	""	"LTBP2(NM_000428.3):c.2377C>T (p.Q793*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74527358G>A"	""	"pathogenic"	""
"0000283594"	"0"	"10"	"14"	"74988687"	"74988687"	"subst"	"0.0237909"	"02329"	"LTBP2_000054"	"g.74988687G>A"	""	""	""	"LTBP2(NM_000428.3):c.2715C>T (p.R905=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74521984G>A"	""	"benign"	""
"0000283595"	"0"	"10"	"14"	"74988601"	"74988601"	"subst"	"0.0246179"	"02329"	"LTBP2_000053"	"g.74988601G>A"	""	""	""	"LTBP2(NM_000428.3):c.2788+13C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74521898G>A"	""	"benign"	""
"0000283596"	"0"	"10"	"14"	"74976852"	"74976852"	"subst"	"0.0186032"	"02329"	"LTBP2_000051"	"g.74976852G>A"	""	""	""	"LTBP2(NM_000428.3):c.3093C>T (p.S1031=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74510149G>A"	""	"benign"	""
"0000283597"	"0"	"30"	"14"	"74970156"	"74970156"	"subst"	"1.67566E-5"	"02329"	"LTBP2_000046"	"g.74970156G>A"	""	""	""	"LTBP2(NM_000428.3):c.4720+16C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74503453G>A"	""	"likely benign"	""
"0000283598"	"0"	"10"	"14"	"74970028"	"74970028"	"subst"	"0.00489637"	"02329"	"LTBP2_000045"	"g.74970028C>T"	""	""	""	"LTBP2(NM_000428.3):c.4782G>A (p.V1594=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74503325C>T"	""	"benign"	""
"0000283599"	"0"	"30"	"14"	"74969904"	"74969904"	"subst"	"0.00442449"	"02329"	"LTBP2_000044"	"g.74969904C>T"	""	""	""	"LTBP2(NM_000428.3):c.4888+18G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74503201C>T"	""	"likely benign"	""
"0000283600"	"0"	"10"	"14"	"75022271"	"75022271"	"subst"	"0.0632691"	"02329"	"LTBP2_000060"	"g.75022271G>T"	""	""	""	"LTBP2(NM_000428.3):c.956C>A (p.P319Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74555568G>T"	""	"benign"	""
"0000291241"	"0"	"30"	"14"	"75018994"	"75018994"	"subst"	"0.0016138"	"01943"	"LTBP2_000057"	"g.75018994G>A"	""	""	""	"LTBP2(NM_000428.2):c.1295C>T (p.P432L, p.(Pro432Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74552291G>A"	""	"likely benign"	""
"0000291242"	"0"	"30"	"14"	"74983580"	"74983580"	"subst"	"0.0012345"	"01943"	"LTBP2_000052"	"g.74983580C>T"	""	""	""	"LTBP2(NM_000428.2):c.2853G>A (p.S951=), LTBP2(NM_000428.3):c.2853G>A (p.S951=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74516877C>T"	""	"likely benign"	""
"0000291243"	"0"	"30"	"14"	"74970666"	"74970666"	"subst"	"0.0010488"	"01943"	"LTBP2_000048"	"g.74970666G>A"	""	""	""	"LTBP2(NM_000428.2):c.4545C>T (p.P1515=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74503963G>A"	""	"likely benign"	""
"0000291244"	"0"	"30"	"14"	"74970620"	"74970620"	"subst"	"1.22178E-5"	"01943"	"LTBP2_000047"	"g.74970620T>G"	""	""	""	"LTBP2(NM_000428.2):c.4582+9A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74503917T>G"	""	"likely benign"	""
"0000291245"	"0"	"30"	"14"	"75052568"	"75052568"	"subst"	"8.19464E-6"	"01943"	"LTBP2_000061"	"g.75052568C>T"	""	""	""	"LTBP2(NM_000428.2):c.819G>A (p.S273=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74585865C>T"	""	"likely benign"	""
"0000304425"	"0"	"50"	"14"	"74959922"	"74959922"	"subst"	"5.3933E-5"	"01943"	"NPC2_000009"	"g.74959922G>T"	""	""	""	"NPC2(NM_006432.4):c.56C>A (p.A19D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74493219G>T"	""	"VUS"	""
"0000338698"	"0"	"10"	"14"	"74988601"	"74988601"	"subst"	"0.0246179"	"02327"	"LTBP2_000053"	"g.74988601G>A"	""	""	""	"LTBP2(NM_000428.3):c.2788+13C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74521898G>A"	""	"benign"	""
"0000340431"	"0"	"10"	"14"	"74992800"	"74992800"	"subst"	"0.3043"	"02327"	"LTBP2_000030"	"g.74992800A>G"	""	""	""	"LTBP2(NM_000428.3):c.2406T>C (p.T802=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74526097A>G"	""	"benign"	""
"0000346267"	"0"	"70"	"14"	"74961032"	"74961032"	"subst"	"0"	"02327"	"ISCA2_000001"	"g.74961032G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.74494329G>A"	""	"likely pathogenic"	""
"0000486924"	"10"	"95"	"14"	"75078317"	"75078317"	"subst"	"0"	"01450"	"LTBP2_000006"	"g.75078317G>A"	""	"{PMID:Ali 2009:19361779}, {OMIM602091:0004}"	""	""	"not in 220 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.74611614G>A"	""	"pathogenic"	""
"0000486925"	"20"	"95"	"14"	"75078317"	"75078317"	"subst"	"0"	"01450"	"LTBP2_000006"	"g.75078317G>A"	""	"{PMID:Ali 2009:19361779}, {OMIM602091:0004}"	""	""	"not in 220 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.74611614G>A"	""	"pathogenic"	""
"0000486926"	"10"	"95"	"14"	"75078238"	"75078238"	"del"	"0"	"01450"	"LTBP2_000003"	"g.75078238del"	""	"{PMID:Ali 2009:19361779}, {OMIM602091:0002}"	""	""	"not in 220 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.74611535del"	""	"pathogenic"	""
"0000486927"	"20"	"95"	"14"	"75078238"	"75078238"	"del"	"0"	"01450"	"LTBP2_000003"	"g.75078238del"	""	"{PMID:Ali 2009:19361779}, {OMIM602091:0002}"	""	""	"not in 220 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.74611535del"	""	"pathogenic"	""
"0000486928"	"10"	"95"	"14"	"75022332"	"75022332"	"subst"	"1.27359E-5"	"01450"	"LTBP2_000004"	"g.75022332G>A"	""	"{PMID:Ali 2009:19361779}, {OMIM602091:0001}"	""	""	"not in 220 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.74555629G>A"	""	"pathogenic"	""
"0000486929"	"20"	"95"	"14"	"75022332"	"75022332"	"subst"	"1.27359E-5"	"01450"	"LTBP2_000004"	"g.75022332G>A"	""	"{PMID:Ali 2009:19361779}, {OMIM602091:0001}"	""	""	"not in 220 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.74555629G>A"	""	"pathogenic"	""
"0000486930"	"10"	"95"	"14"	"75022332"	"75022332"	"subst"	"1.27359E-5"	"01450"	"LTBP2_000004"	"g.75022332G>A"	""	"{PMID: Desir 2010:20179738}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74555629G>A"	""	"pathogenic"	""
"0000486931"	"20"	"95"	"14"	"75022332"	"75022332"	"subst"	"1.27359E-5"	"01450"	"LTBP2_000004"	"g.75022332G>A"	""	"{PMID: Desir 2010:20179738}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74555629G>A"	""	"pathogenic"	""
"0000486932"	"10"	"95"	"14"	"75022332"	"75022332"	"subst"	"1.27359E-5"	"01450"	"LTBP2_000004"	"g.75022332G>A"	""	"{PMID:Azmanov 2010:21081970}, {OMIM602091:0001}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74555629G>A"	""	"pathogenic"	""
"0000486933"	"20"	"95"	"14"	"75022332"	"75022332"	"subst"	"1.27359E-5"	"01450"	"LTBP2_000004"	"g.75022332G>A"	""	"{PMID:Azmanov 2010:21081970}, {OMIM602091:0001}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74555629G>A"	""	"pathogenic"	""
"0000486934"	"1"	"95"	"14"	"75022332"	"75022332"	"subst"	"1.27359E-5"	"01450"	"LTBP2_000004"	"g.75022332G>A"	"25/74 chromosomes"	"{PMID:Azmanov 2010:21081970}, {OMIM602091:0001}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74555629G>A"	""	"pathogenic"	""
"0000486935"	"11"	"95"	"14"	"75022215"	"75022215"	"del"	"0"	"01450"	"LTBP2_000013"	"g.75022215del"	""	"{PMID:Khan 2011:22025892}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74555512del"	""	"pathogenic"	""
"0000486936"	"21"	"95"	"14"	"75022215"	"75022215"	"del"	"0"	"01450"	"LTBP2_000013"	"g.75022215del"	""	"{PMID:Khan 2011:22025892}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74555512del"	""	"pathogenic"	""
"0000486937"	"1"	"55"	"14"	"75022192"	"75022192"	"subst"	"0.0176892"	"00000"	"LTBP2_000010"	"g.75022192C>T"	""	"{PMID:Azmanov 2010:21081970}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.74555489C>T"	""	"VUS"	""
"0000486938"	"10"	"95"	"14"	"75019034"	"75019047"	"del"	"0"	"01450"	"LTBP2_000005"	"g.75019034_75019047del"	""	"{PMID:Ali 2009:19361779}, {OMIM602091:0003}"	""	""	"not in 220 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.74552331_74552344del"	""	"pathogenic"	""
"0000486939"	"20"	"95"	"14"	"75019034"	"75019047"	"del"	"0"	"01450"	"LTBP2_000005"	"g.75019034_75019047del"	""	"{PMID:Ali 2009:19361779}, {OMIM602091:0003}"	""	""	"not in 220 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.74552331_74552344del"	""	"pathogenic"	""
"0000486940"	"10"	"35"	"14"	"75019002"	"75019002"	"subst"	"0.0594617"	"01450"	"LTBP2_000016"	"g.75019002C>T"	""	"{PMID:Narooie-Nejad 2009:19656777}"	""	"(Leu429Leu)"	"not in 800 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.74552299C>T"	""	"likely benign"	""
"0000486941"	"20"	"35"	"14"	"75019002"	"75019002"	"subst"	"0.0594617"	"01450"	"LTBP2_000016"	"g.75019002C>T"	""	"{PMID:Narooie-Nejad 2009:19656777}"	""	"(Leu429Leu)"	"not in 800 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.74552299C>T"	""	"likely benign"	""
"0000486942"	"1"	"55"	"14"	"75019002"	"75019002"	"subst"	"0.0594617"	"00000"	"LTBP2_000016"	"g.75019002C>T"	""	"{PMID:Azmanov 2010:21081970}"	""	"L429L"	""	"Unknown"	""	""	"0"	""	""	"g.74552299C>T"	""	"VUS"	""
"0000486943"	"1"	"55"	"14"	"75019002"	"75019002"	"subst"	"0.0594617"	"00000"	"LTBP2_000016"	"g.75019002C>T"	""	"{PMID:Azmanov 2010:21081970}"	""	"L429L"	""	"Unknown"	""	""	"0"	""	""	"g.74552299C>T"	""	"VUS"	""
"0000486944"	"10"	"95"	"14"	"75018038"	"75018038"	"del"	"0"	"01450"	"LTBP2_000007"	"g.75018038del"	""	"{PMID:Narooie-Nejad 2009:19656777}, {OMIM602091:0006}"	""	""	"not in 800 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.74551335del"	""	"pathogenic"	""
"0000486945"	"20"	"95"	"14"	"75018038"	"75018038"	"del"	"0"	"01450"	"LTBP2_000007"	"g.75018038del"	""	"{PMID:Narooie-Nejad 2009:19656777}, {OMIM602091:0006}"	""	""	"not in 800 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.74551335del"	""	"pathogenic"	""
"0000486946"	"21"	"95"	"14"	"75017811"	"75017811"	"subst"	"4.07378E-6"	"01450"	"LTBP2_000002"	"g.75017811G>A"	"1/600"	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.74551108G>A"	""	"pathogenic"	""
"0000486947"	"0"	"55"	"14"	"75017811"	"75017811"	"subst"	"4.07378E-6"	"00000"	"LTBP2_000002"	"g.75017811G>A"	""	""	""	""	""	"Unknown"	""	"rs137854855"	"0"	""	""	"g.74551108G>A"	""	"VUS"	""
"0000486949"	"3"	"90"	"14"	"75002700"	"75002700"	"dup"	"0"	"01450"	"LTBP2_000009"	"g.75002700dup"	""	"{PMID:Désir 2010:20179738}"	""	""	"mapped by linkage; not in 200 control chromosomes; mRNA RT-PCR product not present"	"Germline"	""	""	"0"	""	""	"g.74535997dup"	""	"pathogenic (recessive)"	""
"0000486950"	"1"	"55"	"14"	"74989426"	"74989426"	"subst"	"0"	"00000"	"LTBP2_000012"	"g.74989426C>G"	""	"{PMID:Azmanov 2010:21081970}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.74522723C>G"	""	"VUS"	""
"0000486951"	"0"	"55"	"14"	"74988601"	"74988601"	"subst"	"0.0246179"	"00000"	"LTBP2_000021"	"g.74988601G>A"	""	"{PMID:Azmanov 2010:21081970}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.74521898G>A"	""	"VUS"	""
"0000486952"	"1"	"55"	"14"	"74988601"	"74988601"	"subst"	"0.0246179"	"00000"	"LTBP2_000021"	"g.74988601G>A"	""	"{PMID:Azmanov 2010:21081970}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.74521898G>A"	""	"VUS"	""
"0000486953"	"1"	"55"	"14"	"74682221"	"74983495"	"delins"	"0"	"00000"	"LTBP2_000022"	"g.74682221_74983495delinsGG"	""	"{PMID:Azmanov 2010:21081970}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.74215518_74516792delinsGG"	""	"VUS"	""
"0000486954"	"2"	"55"	"14"	"74682221"	"74983495"	"delins"	"0"	"00000"	"LTBP2_000022"	"g.74682221_74983495delinsGG"	""	"{PMID:Azmanov 2010:21081970}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.74215518_74516792delinsGG"	""	"VUS"	""
"0000486955"	"1"	"55"	"14"	"74682221"	"74983495"	"delins"	"0"	"00000"	"LTBP2_000022"	"g.74682221_74983495delinsGG"	""	"{PMID:Azmanov 2010:21081970}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.74215518_74516792delinsGG"	""	"VUS"	""
"0000486956"	"2"	"55"	"14"	"74682221"	"74983495"	"delins"	"0"	"00000"	"LTBP2_000022"	"g.74682221_74983495delinsGG"	""	"{PMID:Azmanov 2010:21081970}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.74215518_74516792delinsGG"	""	"VUS"	""
"0000486957"	"10"	"75"	"14"	"74978010"	"74978010"	"subst"	"0.00527072"	"00000"	"LTBP2_000017"	"g.74978010G>C"	""	"{PMID:Narooie-Nejad 2009:19656777}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74511307G>C"	""	"likely pathogenic"	""
"0000486958"	"10"	"75"	"14"	"74978010"	"74978010"	"subst"	"0.00527072"	"00000"	"LTBP2_000017"	"g.74978010G>C"	"3/800 chromosomes"	"{PMID:Narooie-Nejad 2009:19656777}"	""	""	"found heterozygously in 3/400 control individuals"	"Germline"	""	""	"0"	""	""	"g.74511307G>C"	""	"likely pathogenic"	""
"0000486959"	"1"	"55"	"14"	"74976682"	"74976682"	"subst"	"0"	"00000"	"LTBP2_000023"	"g.74976682A>G"	""	"{PMID:Azmanov 2010:21081970}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.74509979A>G"	""	"VUS"	""
"0000486960"	"11"	"35"	"14"	"74976452"	"74976452"	"subst"	"0.0313361"	"01450"	"LTBP2_000019"	"g.74976452C>T"	""	"{PMID: Kumar 2010:20617341}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.74509749C>T"	""	"likely benign"	""
"0000486961"	"21"	"35"	"14"	"74976452"	"74976452"	"subst"	"0.0313361"	"01450"	"LTBP2_000019"	"g.74976452C>T"	""	"{PMID: Kumar 2010:20617341}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.74509749C>T"	""	"likely benign"	""
"0000486962"	"11"	"35"	"14"	"74976452"	"74976452"	"subst"	"0.0313361"	"00000"	"LTBP2_000019"	"g.74976452C>T"	""	"{PMID: Kumar 2010:20617341}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.74509749C>T"	""	"likely benign"	""
"0000486963"	"21"	"35"	"14"	"74976452"	"74976452"	"subst"	"0.0313361"	"00000"	"LTBP2_000019"	"g.74976452C>T"	""	"{PMID: Kumar 2010:20617341}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.74509749C>T"	""	"likely benign"	""
"0000486964"	"1"	"35"	"14"	"74976452"	"74976452"	"subst"	"0.0313361"	"00000"	"LTBP2_000019"	"g.74976452C>T"	""	"{PMID:Azmanov 2010:21081970}"	""	""	"carries pathogenic variants CYP1B1:p.[E387K];[R390C]"	"Unknown"	""	""	"0"	""	""	"g.74509749C>T"	""	"likely benign"	""
"0000486965"	"1"	"35"	"14"	"74976452"	"74976452"	"subst"	"0.0313361"	"00000"	"LTBP2_000019"	"g.74976452C>T"	""	"{PMID:Azmanov 2010:21081970}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.74509749C>T"	""	"likely benign"	""
"0000486966"	"2"	"55"	"14"	"74975591"	"74975591"	"subst"	"0.000572984"	"00000"	"LTBP2_000020"	"g.74975591G>A"	""	"{PMID:Azmanov 2010:21081970}"	""	"G1156G"	"predicted to affect splicing"	"Unknown"	""	""	"0"	""	""	"g.74508888G>A"	""	"VUS"	""
"0000486967"	"1"	"55"	"14"	"74975591"	"74975591"	"subst"	"0.000572984"	"00000"	"LTBP2_000020"	"g.74975591G>A"	""	"{PMID:Azmanov 2010:21081970}"	""	"G1156G"	"predicted to affect splicing"	"Unknown"	""	""	"0"	""	""	"g.74508888G>A"	""	"VUS"	""
"0000486968"	"10"	"95"	"14"	"74975430"	"74975430"	"subst"	"0"	"01450"	"LTBP2_000001"	"g.74975430C>T"	"1/400"	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.74508727C>T"	""	"pathogenic"	""
"0000486969"	"20"	"95"	"14"	"74975430"	"74975430"	"subst"	"0"	"01450"	"LTBP2_000001"	"g.74975430C>T"	"1/400"	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.74508727C>T"	""	"pathogenic"	""
"0000486970"	"0"	"55"	"14"	"74975430"	"74975430"	"subst"	"0"	"00000"	"LTBP2_000001"	"g.74975430C>T"	""	""	""	""	""	"Unknown"	""	"rs137854856"	"0"	""	""	"g.74508727C>T"	""	"VUS"	""
"0000486971"	"11"	"95"	"14"	"74971742"	"74971742"	"subst"	"0"	"01450"	"LTBP2_000015"	"g.74971742C>T"	""	"{PMID:Khan 2011:22025892}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74505039C>T"	""	"pathogenic"	""
"0000486972"	"21"	"95"	"14"	"74971742"	"74971742"	"subst"	"0"	"01450"	"LTBP2_000015"	"g.74971742C>T"	""	"{PMID:Khan 2011:22025892}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74505039C>T"	""	"pathogenic"	""
"0000486973"	"20"	"75"	"14"	"74970002"	"74970002"	"subst"	"0.000126208"	"00000"	"LTBP2_000018"	"g.74970002C>T"	""	"{PMID:Narooie-Nejad 2009:19656777}"	""	""	"not in 800 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.74503299C>T"	""	"likely pathogenic"	""
"0000486974"	"11"	"95"	"14"	"74969955"	"74969955"	"subst"	"0"	"01450"	"LTBP2_000014"	"g.74969955G>A"	""	"{PMID:Khan 2011:22025892}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74503252G>A"	""	"pathogenic"	""
"0000486975"	"21"	"95"	"14"	"74969955"	"74969955"	"subst"	"0"	"01450"	"LTBP2_000014"	"g.74969955G>A"	""	"{PMID:Khan 2011:22025892}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.74503252G>A"	""	"pathogenic"	""
"0000486976"	"0"	"55"	"14"	"74969561"	"74969561"	"subst"	"4.06749E-6"	"00000"	"LTBP2_000024"	"g.74969561A>G"	""	"{PMID:Azmanov 2010:21081970}"	""	"Y1655Y"	""	"Unknown"	""	""	"0"	""	""	"g.74502858A>G"	""	"VUS"	""
"0000486977"	"10"	"95"	"14"	"74967677"	"74967677"	"del"	"0"	"01450"	"LTBP2_000008"	"g.74967677del"	""	"{PMID:Narooie-Nejad 2009:19656777}, {OMIM602091:0007}"	""	""	"not in 800 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.74500974del"	""	"pathogenic"	""
"0000486978"	"20"	"95"	"14"	"74967677"	"74967677"	"del"	"0"	"01450"	"LTBP2_000008"	"g.74967677del"	""	"{PMID:Narooie-Nejad 2009:19656777}, {OMIM602091:0007}"	""	""	"not in 800 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.74500974del"	""	"pathogenic"	""
"0000486979"	"11"	"95"	"14"	"74967613"	"74967613"	"dup"	"0"	"01450"	"LTBP2_000011"	"g.74967613dup"	""	"{PMID: Kumar 2010:20617341}, {OMIM602091:0005}"	""	""	"mapped by linkage; not in 212 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.74500910dup"	""	"pathogenic"	""
"0000486980"	"21"	"95"	"14"	"74967613"	"74967613"	"dup"	"0"	"01450"	"LTBP2_000011"	"g.74967613dup"	""	"{PMID: Kumar 2010:20617341}, {OMIM602091:0005}"	""	""	"mapped by linkage; not in 212 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.74500910dup"	""	"pathogenic"	""
"0000553002"	"0"	"90"	"14"	"74959920"	"74959920"	"subst"	"7.89463E-5"	"01943"	"NPC2_000016"	"g.74959920C>A"	""	""	""	"NPC2(NM_006432.4):c.58G>T (p.E20*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74493217C>A"	""	"pathogenic"	""
"0000553003"	"0"	"70"	"14"	"74960551"	"74960551"	"subst"	"0"	"02327"	"NPC2_000017"	"g.74960551A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74493848A>T"	""	"likely pathogenic"	""
"0000553006"	"0"	"50"	"14"	"74970012"	"74970012"	"subst"	"2.44363E-5"	"01804"	"LTBP2_000065"	"g.74970012G>A"	""	""	""	"LTBP2(NM_000428.2):c.4798C>T (p.(Arg1600Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74503309G>A"	""	"VUS"	""
"0000553007"	"0"	"30"	"14"	"74970041"	"74970041"	"subst"	"0.00796098"	"01804"	"LTBP2_000066"	"g.74970041A>G"	""	""	""	"LTBP2(NM_000428.2):c.4769T>C (p.(Val1590Ala)), LTBP2(NM_000428.3):c.4769T>C (p.V1590A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74503338A>G"	""	"likely benign"	""
"0000553008"	"0"	"50"	"14"	"74971701"	"74971701"	"subst"	"0"	"01804"	"LTBP2_000067"	"g.74971701G>A"	""	""	""	"LTBP2(NM_000428.2):c.4354C>T (p.(Pro1452Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74504998G>A"	""	"VUS"	""
"0000553009"	"0"	"30"	"14"	"74971769"	"74971769"	"subst"	"0.00362472"	"01804"	"LTBP2_000068"	"g.74971769C>T"	""	""	""	"LTBP2(NM_000428.2):c.4286G>A (p.(Arg1429Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74505066C>T"	""	"likely benign"	""
"0000553011"	"0"	"30"	"14"	"74971852"	"74971852"	"subst"	"0.00383143"	"01943"	"LTBP2_000070"	"g.74971852C>T"	""	""	""	"LTBP2(NM_000428.2):c.4203G>A (p.T1401=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74505149C>T"	""	"likely benign"	""
"0000553012"	"0"	"30"	"14"	"74972791"	"74972791"	"subst"	"3.24939E-5"	"02330"	"LTBP2_000071"	"g.74972791G>A"	""	""	""	"LTBP2(NM_000428.3):c.4137C>T (p.Y1379=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74506088G>A"	""	"likely benign"	""
"0000553013"	"0"	"50"	"14"	"74972881"	"74972881"	"subst"	"0"	"01943"	"LTBP2_000072"	"g.74972881A>C"	""	""	""	"LTBP2(NM_000428.2):c.4047T>G (p.C1349W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74506178A>C"	""	"VUS"	""
"0000553014"	"0"	"10"	"14"	"74973898"	"74973898"	"subst"	"0.00184016"	"01943"	"LTBP2_000073"	"g.74973898C>T"	""	""	""	"LTBP2(NM_000428.2):c.3891G>A (p.P1297=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74507195C>T"	""	"benign"	""
"0000553015"	"0"	"50"	"14"	"74975348"	"74975348"	"subst"	"0.000853465"	"01943"	"LTBP2_000074"	"g.74975348G>A"	""	""	""	"LTBP2(NM_000428.2):c.3611C>T (p.A1204V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74508645G>A"	""	"VUS"	""
"0000553016"	"0"	"30"	"14"	"74975549"	"74975549"	"subst"	"0.00026429"	"01943"	"LTBP2_000075"	"g.74975549A>G"	""	""	""	"LTBP2(NM_000428.2):c.3510T>C (p.N1170=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74508846A>G"	""	"likely benign"	""
"0000553017"	"0"	"10"	"14"	"74976011"	"74976011"	"subst"	"0.00160867"	"01943"	"LTBP2_000076"	"g.74976011C>T"	""	""	""	"LTBP2(NM_000428.2):c.3333G>A (p.T1111=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74509308C>T"	""	"benign"	""
"0000553018"	"0"	"10"	"14"	"74976082"	"74976082"	"subst"	"0.013366"	"02329"	"LTBP2_000077"	"g.74976082G>A"	""	""	""	"LTBP2(NM_000428.3):c.3278-16C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74509379G>A"	""	"benign"	""
"0000553019"	"0"	"30"	"14"	"74976452"	"74976452"	"subst"	"0.0313361"	"01804"	"LTBP2_000019"	"g.74976452C>T"	""	""	""	"LTBP2(NM_000428.2):c.3262G>A (p.(Gly1088Ser)), LTBP2(NM_000428.3):c.3262G>A (p.G1088S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74509749C>T"	""	"likely benign"	""
"0000553020"	"0"	"10"	"14"	"74976452"	"74976452"	"subst"	"0.0313361"	"02329"	"LTBP2_000019"	"g.74976452C>T"	""	""	""	"LTBP2(NM_000428.2):c.3262G>A (p.(Gly1088Ser)), LTBP2(NM_000428.3):c.3262G>A (p.G1088S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74509749C>T"	""	"benign"	""
"0000553021"	"0"	"50"	"14"	"74976538"	"74976538"	"subst"	"4.0626E-6"	"01804"	"LTBP2_000078"	"g.74976538G>A"	""	""	""	"LTBP2(NM_000428.2):c.3176C>T (p.(Ala1059Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74509835G>A"	""	"VUS"	""
"0000553022"	"0"	"30"	"14"	"74978010"	"74978010"	"subst"	"0.00527072"	"01804"	"LTBP2_000017"	"g.74978010G>C"	""	""	""	"LTBP2(NM_000428.2):c.2966C>G (p.(Pro989Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74511307G>C"	""	"likely benign"	""
"0000553023"	"0"	"30"	"14"	"74978060"	"74978060"	"subst"	"8.1215E-5"	"01943"	"LTBP2_000079"	"g.74978060G>A"	""	""	""	"LTBP2(NM_000428.2):c.2916C>T (p.N972=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74511357G>A"	""	"likely benign"	""
"0000553025"	"0"	"50"	"14"	"74983588"	"74983588"	"subst"	"5.33689E-5"	"02330"	"LTBP2_000081"	"g.74983588C>T"	""	""	""	"LTBP2(NM_000428.3):c.2845G>A (p.E949K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74516885C>T"	""	"VUS"	""
"0000553026"	"0"	"30"	"14"	"74983639"	"74983639"	"subst"	"0"	"01943"	"LTBP2_000082"	"g.74983639T>C"	""	""	""	"LTBP2(NM_000428.2):c.2794A>G (p.N932D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74516936T>C"	""	"likely benign"	""
"0000553027"	"0"	"30"	"14"	"74989495"	"74989495"	"subst"	"0.000567722"	"01804"	"LTBP2_000083"	"g.74989495G>T"	""	""	""	"LTBP2(NM_000428.2):c.2657C>A (p.(Thr886Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74522792G>T"	""	"likely benign"	""
"0000553028"	"0"	"30"	"14"	"74989504"	"74989504"	"subst"	"0"	"01804"	"LTBP2_000084"	"g.74989504G>A"	""	""	""	"LTBP2(NM_000428.2):c.2648C>T (p.(Ala883Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74522801G>A"	""	"likely benign"	""
"0000553029"	"0"	"30"	"14"	"74995782"	"74995782"	"subst"	"1.30269E-5"	"02325"	"LTBP2_000085"	"g.74995782C>T"	""	""	""	"LTBP2(NM_000428.3):c.2031G>A (p.S677=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74529079C>T"	""	"likely benign"	""
"0000553030"	"0"	"10"	"14"	"75017900"	"75017900"	"subst"	"0.00775777"	"02329"	"LTBP2_000086"	"g.75017900C>A"	""	""	""	"LTBP2(NM_000428.2):c.1553G>T (p.(Ser518Ile)), LTBP2(NM_000428.3):c.1553G>T (p.S518I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74551197C>A"	""	"benign"	""
"0000553031"	"0"	"10"	"14"	"75018880"	"75018880"	"subst"	"0.00459508"	"02329"	"LTBP2_000087"	"g.75018880C>A"	""	""	""	"LTBP2(NM_000428.3):c.1399+10G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74552177C>A"	""	"benign"	""
"0000553032"	"0"	"30"	"14"	"75018980"	"75018980"	"subst"	"0.000229632"	"01804"	"LTBP2_000088"	"g.75018980C>T"	""	""	""	"LTBP2(NM_000428.2):c.1309G>A (p.(Glu437Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74552277C>T"	""	"likely benign"	""
"0000553033"	"0"	"30"	"14"	"75019752"	"75019752"	"subst"	"1.22232E-5"	"02325"	"LTBP2_000089"	"g.75019752C>T"	""	""	""	"LTBP2(NM_000428.3):c.1035G>A (p.T345=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74553049C>T"	""	"likely benign"	""
"0000553034"	"0"	"50"	"14"	"75070396"	"75070396"	"subst"	"0"	"02327"	"LTBP2_000090"	"g.75070396G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74603693G>A"	""	"VUS"	""
"0000553035"	"0"	"30"	"14"	"75078270"	"75078270"	"subst"	"0.00476649"	"01943"	"LTBP2_000091"	"g.75078270G>A"	""	""	""	"LTBP2(NM_000428.2):c.378C>T (p.P126=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74611567G>A"	""	"likely benign"	""
"0000553036"	"0"	"10"	"14"	"75078538"	"75078538"	"subst"	"0.00147024"	"01943"	"LTBP2_000092"	"g.75078538C>A"	""	""	""	"LTBP2(NM_000428.2):c.110G>T (p.R37M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74611835C>A"	""	"benign"	""
"0000553037"	"0"	"30"	"14"	"75078617"	"75078617"	"subst"	"9.66791E-6"	"01804"	"LTBP2_000093"	"g.75078617C>T"	""	""	""	"LTBP2(NM_000428.2):c.31G>A (p.(Gly11Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74611914C>T"	""	"likely benign"	""
"0000615071"	"0"	"30"	"14"	"74969424"	"74969424"	"subst"	"6.90451E-5"	"01943"	"LTBP2_000094"	"g.74969424C>T"	""	""	""	"LTBP2(NM_000428.2):c.5102G>A (p.R1701H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74502721C>T"	""	"likely benign"	""
"0000615072"	"0"	"30"	"14"	"74969621"	"74969621"	"subst"	"0.00034493"	"01943"	"LTBP2_000063"	"g.74969621C>G"	""	""	""	"LTBP2(NM_000428.2):c.4905G>C (p.L1635=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74502918C>G"	""	"likely benign"	""
"0000615073"	"0"	"50"	"14"	"74969990"	"74969990"	"subst"	"1.22042E-5"	"01804"	"LTBP2_000096"	"g.74969990G>A"	""	""	""	"LTBP2(NM_000428.2):c.4820C>T (p.(Thr1607Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74503287G>A"	""	"VUS"	""
"0000615074"	"0"	"90"	"14"	"74971809"	"74971809"	"dup"	"0"	"02327"	"LTBP2_000097"	"g.74971809dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74505106dup"	""	"pathogenic"	""
"0000615075"	"0"	"30"	"14"	"74972856"	"74972856"	"subst"	"0.000223365"	"01943"	"LTBP2_000098"	"g.74972856C>A"	""	""	""	"LTBP2(NM_000428.2):c.4072G>T (p.A1358S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74506153C>A"	""	"likely benign"	""
"0000615076"	"0"	"30"	"14"	"74983580"	"74983580"	"subst"	"0.0012345"	"02325"	"LTBP2_000052"	"g.74983580C>T"	""	""	""	"LTBP2(NM_000428.2):c.2853G>A (p.S951=), LTBP2(NM_000428.3):c.2853G>A (p.S951=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74516877C>T"	""	"likely benign"	""
"0000615077"	"0"	"50"	"14"	"74983596"	"74983596"	"subst"	"0.000200043"	"02325"	"LTBP2_000100"	"g.74983596G>A"	""	""	""	"LTBP2(NM_000428.3):c.2837C>T (p.T946I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74516893G>A"	""	"VUS"	""
"0000615078"	"0"	"50"	"14"	"75017876"	"75017876"	"subst"	"0.000227996"	"01804"	"LTBP2_000102"	"g.75017876C>T"	""	""	""	"LTBP2(NM_000428.2):c.1577G>A (p.(Ser526Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74551173C>T"	""	"VUS"	""
"0000615079"	"0"	"30"	"14"	"75018881"	"75018881"	"subst"	"0"	"02330"	"LTBP2_000103"	"g.75018881G>A"	""	""	""	"LTBP2(NM_000428.3):c.1399+9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74552178G>A"	""	"likely benign"	""
"0000615080"	"0"	"30"	"14"	"75018900"	"75018900"	"subst"	"8.74546E-6"	"01943"	"LTBP2_000104"	"g.75018900G>A"	""	""	""	"LTBP2(NM_000428.2):c.1389C>T (p.S463=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74552197G>A"	""	"likely benign"	""
"0000615081"	"0"	"50"	"14"	"75022218"	"75022218"	"subst"	"0"	"01943"	"LTBP2_000105"	"g.75022218A>G"	""	""	""	"LTBP2(NM_000428.2):c.1009T>C (p.S337P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74555515A>G"	""	"VUS"	""
"0000615082"	"0"	"90"	"14"	"75022332"	"75022332"	"subst"	"1.27359E-5"	"02327"	"LTBP2_000004"	"g.75022332G>A"	""	""	""	"LTBP2(NM_000428.3):c.895C>T (p.R299*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74555629G>A"	""	"pathogenic"	""
"0000615083"	"0"	"50"	"14"	"75052580"	"75052597"	"del"	"0"	"01804"	"LTBP2_000106"	"g.75052580_75052597del"	""	""	""	"LTBP2(NM_000428.2):c.804_821del (p.(Pro271_Ala276del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74585877_74585894del"	""	"VUS"	""
"0000615084"	"0"	"50"	"14"	"75078618"	"75078618"	"subst"	"0"	"01943"	"LTBP2_000107"	"g.75078618C>A"	""	""	""	"LTBP2(NM_000428.2):c.30G>T (p.P10=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74611915C>A"	""	"VUS"	""
"0000615085"	"0"	"50"	"14"	"75078619"	"75078619"	"subst"	"0"	"01943"	"LTBP2_000108"	"g.75078619G>A"	""	""	""	"LTBP2(NM_000428.2):c.29C>T (p.P10L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74611916G>A"	""	"VUS"	""
"0000623162"	"0"	"30"	"14"	"74960844"	"74960844"	"subst"	"4.9648E-6"	"01943"	"NPC2_000020"	"g.74960844A>C"	""	""	""	"ISCA2(NM_194279.3):c.163A>C (p.S55R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74494141A>C"	""	"likely benign"	""
"0000623163"	"0"	"30"	"14"	"74969646"	"74969646"	"subst"	"0"	"01943"	"LTBP2_000095"	"g.74969646G>A"	""	""	""	"LTBP2(NM_000428.2):c.4889-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74502943G>A"	""	"likely benign"	""
"0000623164"	"0"	"30"	"14"	"74983553"	"74983553"	"subst"	"0.000808478"	"01943"	"LTBP2_000099"	"g.74983553G>A"	""	""	""	"LTBP2(NM_000428.2):c.2880C>T (p.Y960=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74516850G>A"	""	"likely benign"	""
"0000623165"	"0"	"30"	"14"	"75002696"	"75002696"	"subst"	"0.000186869"	"01943"	"LTBP2_000101"	"g.75002696C>T"	""	""	""	"LTBP2(NM_000428.2):c.1797G>A (p.P599=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74535993C>T"	""	"likely benign"	""
"0000648969"	"1"	"50"	"14"	"74989495"	"74989495"	"subst"	"0.000567722"	"03575"	"LTBP2_000083"	"g.74989495G>T"	"7/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"7 heterozygous, no homozygous; {DB:CLININrs201591982}"	"Germline"	""	"rs201591982"	"0"	""	""	"g.74522792G>T"	""	"VUS"	""
"0000648970"	"1"	"10"	"14"	"75017900"	"75017900"	"subst"	"0.00775777"	"03575"	"LTBP2_000086"	"g.75017900C>A"	"18/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"18 heterozygous, no homozygous; {DB:CLININrs137854857}"	"Germline"	""	"rs137854857"	"0"	""	""	"g.74551197C>A"	""	"benign"	""
"0000657480"	"0"	"30"	"14"	"74969470"	"74969470"	"subst"	"0.000162443"	"01943"	"LTBP2_000109"	"g.74969470C>T"	""	""	""	"LTBP2(NM_000428.2):c.5056G>A (p.V1686I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74502767C>T"	""	"likely benign"	""
"0000657481"	"0"	"50"	"14"	"74970695"	"74970695"	"subst"	"0.00141916"	"01943"	"LTBP2_000110"	"g.74970695C>T"	""	""	""	"LTBP2(NM_000428.2):c.4516G>A (p.V1506M, p.(Val1506Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74503992C>T"	""	"VUS"	""
"0000657482"	"0"	"50"	"14"	"74970754"	"74970754"	"subst"	"6.93861E-5"	"01943"	"LTBP2_000111"	"g.74970754G>A"	""	""	""	"LTBP2(NM_000428.2):c.4457C>T (p.A1486V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74504051G>A"	""	"VUS"	""
"0000657483"	"0"	"30"	"14"	"74973906"	"74973906"	"subst"	"1.62454E-5"	"01943"	"LTBP2_000112"	"g.74973906T>C"	""	""	""	"LTBP2(NM_000428.2):c.3883A>G (p.M1295V, p.(Met1295Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74507203T>C"	""	"likely benign"	""
"0000657484"	"0"	"50"	"14"	"74976898"	"74976898"	"subst"	"0.000390908"	"01943"	"LTBP2_000113"	"g.74976898G>A"	""	""	""	"LTBP2(NM_000428.2):c.3047C>T (p.T1016I), LTBP2(NM_000428.3):c.3047C>T (p.(Thr1016Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74510195G>A"	""	"VUS"	""
"0000657485"	"0"	"30"	"14"	"75017773"	"75017773"	"subst"	"0.000150803"	"01943"	"LTBP2_000114"	"g.75017773G>A"	""	""	""	"LTBP2(NM_000428.2):c.1680C>T (p.N560=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.74551070G>A"	""	"likely benign"	""
"0000680025"	"0"	"50"	"14"	"74961565"	"74961565"	"subst"	"0"	"02325"	"NPC2_000022"	"g.74961565C>A"	""	""	""	"ISCA2(NM_194279.4):c.327C>A (p.D109E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000680026"	"0"	"30"	"14"	"74968163"	"74968163"	"subst"	"1.21893E-5"	"02325"	"LTBP2_000115"	"g.74968163C>T"	""	""	""	"LTBP2(NM_000428.3):c.5301G>A (p.A1767=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000680027"	"0"	"50"	"14"	"74969592"	"74969592"	"subst"	"0.0002616"	"02325"	"LTBP2_000116"	"g.74969592C>T"	""	""	""	"LTBP2(NM_000428.3):c.4934G>A (p.(Arg1645Gln), p.R1645Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000680028"	"0"	"30"	"14"	"74970695"	"74970695"	"subst"	"0.00141916"	"01804"	"LTBP2_000110"	"g.74970695C>T"	""	""	""	"LTBP2(NM_000428.2):c.4516G>A (p.V1506M, p.(Val1506Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000680029"	"0"	"30"	"14"	"74975353"	"74975353"	"subst"	"3.6688E-5"	"01943"	"LTBP2_000117"	"g.74975353C>A"	""	""	""	"LTBP2(NM_000428.2):c.3606G>T (p.L1202=), LTBP2(NM_000428.3):c.3606G>T (p.L1202=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000680030"	"0"	"50"	"14"	"74975387"	"74975387"	"subst"	"0"	"01943"	"LTBP2_000118"	"g.74975387T>G"	""	""	""	"LTBP2(NM_000428.2):c.3572A>C (p.E1191A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000680031"	"0"	"50"	"14"	"74988734"	"74988734"	"subst"	"0.00131925"	"01943"	"LTBP2_000119"	"g.74988734C>T"	""	""	""	"LTBP2(NM_000428.2):c.2668G>A (p.E890K), LTBP2(NM_000428.3):c.2668G>A (p.E890K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000680032"	"0"	"50"	"14"	"74995314"	"74995314"	"subst"	"9.44558E-5"	"01943"	"LTBP2_000120"	"g.74995314T>C"	""	""	""	"LTBP2(NM_000428.2):c.2240A>G (p.E747G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000680033"	"0"	"30"	"14"	"75019716"	"75019716"	"subst"	"0"	"01943"	"LTBP2_000121"	"g.75019716G>A"	""	""	""	"LTBP2(NM_000428.2):c.1071C>T (p.P357=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000680034"	"0"	"50"	"14"	"75052602"	"75052602"	"subst"	"0.00060697"	"01943"	"LTBP2_000122"	"g.75052602G>A"	""	""	""	"LTBP2(NM_000428.2):c.785C>T (p.P262L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000680035"	"0"	"50"	"14"	"75078278"	"75078278"	"subst"	"0"	"01804"	"LTBP2_000123"	"g.75078278T>A"	""	""	""	"LTBP2(NM_000428.2):c.370A>T (p.(Ser124Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000691702"	"0"	"30"	"14"	"74969989"	"74969989"	"subst"	"0.00055721"	"01943"	"LTBP2_000064"	"g.74969989C>T"	""	""	""	"LTBP2(NM_000428.2):c.4821G>A (p.T1607=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000691703"	"0"	"50"	"14"	"74988734"	"74988734"	"subst"	"0.00131925"	"02325"	"LTBP2_000119"	"g.74988734C>T"	""	""	""	"LTBP2(NM_000428.2):c.2668G>A (p.E890K), LTBP2(NM_000428.3):c.2668G>A (p.E890K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000691704"	"0"	"50"	"14"	"74999213"	"74999213"	"subst"	"8.1285E-6"	"02325"	"LTBP2_000124"	"g.74999213C>T"	""	""	""	"LTBP2(NM_000428.3):c.1903G>A (p.A635T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000691705"	"0"	"30"	"14"	"75018993"	"75018993"	"subst"	"0.000262198"	"01943"	"LTBP2_000125"	"g.75018993C>T"	""	""	""	"LTBP2(NM_000428.2):c.1296G>A (p.P432=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000691706"	"0"	"50"	"14"	"75052806"	"75052806"	"subst"	"0"	"01943"	"LTBP2_000126"	"g.75052806G>A"	""	""	""	"LTBP2(NM_000428.2):c.581C>T (p.P194L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000691707"	"0"	"50"	"14"	"75078580"	"75078580"	"subst"	"0"	"01943"	"LTBP2_000127"	"g.75078580G>T"	""	""	""	"LTBP2(NM_000428.2):c.68C>A (p.P23Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000724854"	"0"	"30"	"14"	"74960521"	"74960521"	"subst"	"0"	"01943"	"NPC2_000024"	"g.74960521G>C"	""	""	""	"ISCA2(NM_194279.3):c.44G>C (p.R15T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724855"	"0"	"50"	"14"	"74969989"	"74969989"	"subst"	"0.00055721"	"02329"	"LTBP2_000064"	"g.74969989C>T"	""	""	""	"LTBP2(NM_000428.2):c.4821G>A (p.T1607=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000724856"	"0"	"50"	"14"	"74975653"	"74975653"	"subst"	"0"	"02329"	"LTBP2_000050"	"g.74975653C>T"	""	""	""	"LTBP2(NM_000428.2):c.3406G>A (p.V1136M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000724857"	"0"	"30"	"14"	"74983653"	"74983653"	"subst"	"0.000780462"	"01943"	"LTBP2_000128"	"g.74983653A>G"	""	""	""	"LTBP2(NM_000428.2):c.2789-9T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724858"	"0"	"50"	"14"	"75017841"	"75017841"	"subst"	"0.000236085"	"01943"	"LTBP2_000129"	"g.75017841G>A"	""	""	""	"LTBP2(NM_000428.2):c.1612C>T (p.R538W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000724859"	"0"	"30"	"14"	"75018993"	"75018993"	"subst"	"5.73559E-5"	"01943"	"LTBP2_000130"	"g.75018993C>A"	""	""	""	"LTBP2(NM_000428.2):c.1296G>T (p.P432=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000797394"	"3"	"70"	"14"	"75022332"	"75022332"	"subst"	"1.27359E-5"	"00000"	"LTBP2_000004"	"g.75022332G>A"	""	"{PMID:Patel 2019:30653986}"	""	"c.895C-->T; Arg299Ter"	"no Sanger sequencing; homozygous"	"Germline"	"?"	""	"0"	""	""	"g.74555629G>A"	""	"likely pathogenic"	""
"0000806481"	"0"	"30"	"14"	"74960790"	"74960790"	"subst"	"0"	"01943"	"NPC2_000025"	"g.74960790G>A"	""	""	""	"ISCA2(NM_194279.3):c.109G>A (p.E37K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000806482"	"0"	"50"	"14"	"74970271"	"74970271"	"subst"	"0.000463115"	"01943"	"LTBP2_000131"	"g.74970271C>T"	""	""	""	"LTBP2(NM_000428.2):c.4621G>A (p.E1541K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000806483"	"0"	"30"	"14"	"74973906"	"74973906"	"subst"	"1.62454E-5"	"01804"	"LTBP2_000112"	"g.74973906T>C"	""	""	""	"LTBP2(NM_000428.2):c.3883A>G (p.M1295V, p.(Met1295Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000806484"	"0"	"30"	"14"	"74992812"	"74992812"	"subst"	"0"	"02329"	"LTBP2_000132"	"g.74992812C>T"	""	""	""	"LTBP2(NM_000428.3):c.2394G>A (p.T798=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000806485"	"0"	"50"	"14"	"74995228"	"74995228"	"subst"	"0.000456182"	"01943"	"LTBP2_000133"	"g.74995228C>T"	""	""	""	"LTBP2(NM_000428.2):c.2326G>A (p.V776I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000806486"	"0"	"70"	"14"	"74995678"	"74995678"	"subst"	"0"	"02329"	"LTBP2_000134"	"g.74995678C>T"	""	""	""	"LTBP2(NM_000428.3):c.2135G>A (p.C712Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000814365"	"0"	"90"	"14"	"74975378"	"74975381"	"dup"	"0"	"00000"	"LTBP2_000135"	"g.74975378_74975381dup"	""	"{PMID:Lenassi 2020:31848469}"	""	"LTBP2 c.3578_3581dup p.(Ser1195Ter) het LTBP2 c.469delA p.(Thr157ProfsTer123) het"	"error in annotation, c.3578_3581dup causes p.(Ser1195Glnfs*52) and not p.(Ser1195*); heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.74508675_74508678dup"	""	"pathogenic"	"ACMG"
"0000814392"	"3"	"50"	"14"	"75070396"	"75070396"	"subst"	"0"	"00000"	"LTBP2_000137"	"g.75070396G>C"	""	"{PMID:Lenassi 2020:31848469}"	""	"LTBP2 c.507C>G p.(Cys169Trp) hom"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.74603693G>C"	""	"VUS"	"ACMG"
"0000814402"	"3"	"90"	"14"	"74975636"	"74975636"	"del"	"0"	"00000"	"LTBP2_000136"	"g.74975636del"	""	"{PMID:Lenassi 2020:31848469}"	""	"LTBP2 c.3427delC p.(Gln1143ArgfsTer35) hom"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.74508933del"	""	"pathogenic"	"ACMG"
"0000814459"	"0"	"90"	"14"	"75078180"	"75078180"	"del"	"0"	"00000"	"LTBP2_000138"	"g.75078180del"	""	"{PMID:Lenassi 2020:31848469}"	""	"LTBP2 c.3578_3581dup p.(Ser1195Ter) het LTBP2 c.469delA p.(Thr157ProfsTer123) het"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.74611477del"	""	"pathogenic"	"ACMG"
"0000853881"	"0"	"50"	"14"	"74969607"	"74969607"	"subst"	"2.05027E-5"	"01943"	"LTBP2_000140"	"g.74969607C>T"	""	""	""	"LTBP2(NM_000428.2):c.4919G>A (p.R1640H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000853882"	"0"	"30"	"14"	"74972767"	"74972767"	"subst"	"0"	"01943"	"LTBP2_000143"	"g.74972767G>A"	""	""	""	"LTBP2(NM_000428.2):c.4161C>T (p.R1387=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000853883"	"0"	"30"	"14"	"75052587"	"75052587"	"subst"	"0.000941519"	"01804"	"LTBP2_000147"	"g.75052587G>A"	""	""	""	"LTBP2(NM_000428.2):c.800C>T (p.S267L, p.(Ser267Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863639"	"0"	"50"	"14"	"74960999"	"74960999"	"subst"	"0"	"01943"	"NPC2_000026"	"g.74960999G>A"	""	""	""	"ISCA2(NM_194279.3):c.196G>A (p.G66R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000863640"	"0"	"50"	"14"	"74969562"	"74969562"	"subst"	"0.000459705"	"01804"	"LTBP2_000139"	"g.74969562T>C"	""	""	""	"LTBP2(NM_000428.2):c.4964A>G (p.(Tyr1655Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000863641"	"0"	"50"	"14"	"74969631"	"74969631"	"subst"	"0"	"01943"	"LTBP2_000141"	"g.74969631T>C"	""	""	""	"LTBP2(NM_000428.2):c.4895A>G (p.Y1632C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000863642"	"0"	"10"	"14"	"74970041"	"74970041"	"subst"	"0.00796098"	"02329"	"LTBP2_000066"	"g.74970041A>G"	""	""	""	"LTBP2(NM_000428.2):c.4769T>C (p.(Val1590Ala)), LTBP2(NM_000428.3):c.4769T>C (p.V1590A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000863643"	"0"	"50"	"14"	"74970665"	"74970665"	"subst"	"2.03272E-5"	"01943"	"LTBP2_000142"	"g.74970665C>T"	""	""	""	"LTBP2(NM_000428.2):c.4546G>A (p.G1516S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000863644"	"0"	"50"	"14"	"74976538"	"74976538"	"subst"	"4.0626E-6"	"02327"	"LTBP2_000078"	"g.74976538G>A"	""	""	""	"LTBP2(NM_000428.2):c.3176C>T (p.(Ala1059Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000863645"	"0"	"50"	"14"	"74989590"	"74989590"	"subst"	"8.26706E-6"	"01804"	"LTBP2_000144"	"g.74989590G>T"	""	""	""	"LTBP2(NM_000428.2):c.2562C>A (p.(Asn854Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000863646"	"0"	"30"	"14"	"74995773"	"74995773"	"subst"	"0.000126871"	"01943"	"LTBP2_000145"	"g.74995773G>A"	""	""	""	"LTBP2(NM_000428.2):c.2040C>T (p.P680=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863647"	"0"	"30"	"14"	"75017870"	"75017870"	"subst"	"8.14014E-6"	"01943"	"LTBP2_000146"	"g.75017870T>G"	""	""	""	"LTBP2(NM_000428.2):c.1583A>C (p.N528T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863648"	"0"	"30"	"14"	"75017900"	"75017900"	"subst"	"0.00775777"	"01804"	"LTBP2_000086"	"g.75017900C>A"	""	""	""	"LTBP2(NM_000428.2):c.1553G>T (p.(Ser518Ile)), LTBP2(NM_000428.3):c.1553G>T (p.S518I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863649"	"0"	"30"	"14"	"75052587"	"75052587"	"subst"	"0.000941519"	"01943"	"LTBP2_000147"	"g.75052587G>A"	""	""	""	"LTBP2(NM_000428.2):c.800C>T (p.S267L, p.(Ser267Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000891867"	"0"	"30"	"14"	"74969412"	"74969412"	"subst"	"4.06161E-6"	"01804"	"LTBP2_000148"	"g.74969412A>G"	""	""	""	"LTBP2(NM_000428.2):c.5114T>C (p.(Leu1705Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000891868"	"0"	"30"	"14"	"74969548"	"74969548"	"subst"	"0.000524416"	"01804"	"LTBP2_000149"	"g.74969548C>A"	""	""	""	"LTBP2(NM_000428.2):c.4978G>T (p.(Gly1660Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000891869"	"0"	"30"	"14"	"74972748"	"74972748"	"subst"	"8.13246E-6"	"01804"	"LTBP2_000150"	"g.74972748C>T"	""	""	""	"LTBP2(NM_000428.2):c.4177+3G>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000891870"	"0"	"30"	"14"	"74995221"	"74995221"	"subst"	"0"	"01804"	"LTBP2_000151"	"g.74995221T>C"	""	""	""	"LTBP2(NM_000428.2):c.2333A>G (p.(Asp778Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000891871"	"0"	"30"	"14"	"74995694"	"74995694"	"subst"	"1.68947E-5"	"01804"	"LTBP2_000152"	"g.74995694T>G"	""	""	""	"LTBP2(NM_000428.2):c.2119A>C (p.(Ser707Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925911"	"0"	"50"	"14"	"74967607"	"74967607"	"subst"	"2.44214E-5"	"01804"	"LTBP2_000153"	"g.74967607G>T"	""	""	""	"LTBP2(NM_000428.2):c.5446C>A (p.(His1816Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000925912"	"0"	"30"	"14"	"74973513"	"74973513"	"subst"	"0.000479952"	"02330"	"LTBP2_000154"	"g.74973513G>A"	""	""	""	"LTBP2(NM_000428.3):c.3921C>T (p.C1307=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925913"	"0"	"50"	"14"	"74988689"	"74988689"	"subst"	"6.92329E-5"	"01804"	"LTBP2_000155"	"g.74988689G>A"	""	""	""	"LTBP2(NM_000428.2):c.2713C>T (p.(Arg905Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000930328"	"0"	"50"	"14"	"74969562"	"74969562"	"subst"	"0.000459705"	"02327"	"LTBP2_000139"	"g.74969562T>C"	""	""	""	"LTBP2(NM_000428.2):c.4964A>G (p.(Tyr1655Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000930329"	"0"	"50"	"14"	"74989611"	"74989611"	"subst"	"0.000461224"	"02327"	"LTBP2_000156"	"g.74989611T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000930330"	"0"	"90"	"14"	"75022332"	"75022332"	"subst"	"1.27359E-5"	"02325"	"LTBP2_000004"	"g.75022332G>A"	""	""	""	"LTBP2(NM_000428.3):c.895C>T (p.R299*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000930331"	"0"	"30"	"14"	"75052569"	"75052569"	"subst"	"0.000532494"	"01804"	"LTBP2_000157"	"g.75052569G>A"	""	""	""	"LTBP2(NM_000428.2):c.818C>T (p.(Ser273Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000980996"	"0"	"50"	"14"	"74969592"	"74969592"	"subst"	"0.0002616"	"01804"	"LTBP2_000116"	"g.74969592C>T"	""	""	""	"LTBP2(NM_000428.3):c.4934G>A (p.(Arg1645Gln), p.R1645Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000980997"	"0"	"30"	"14"	"74971477"	"74971477"	"subst"	"3.24873E-5"	"01804"	"LTBP2_000158"	"g.74971477T>C"	""	""	""	"LTBP2(NM_000428.3):c.4453+4A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000980998"	"0"	"50"	"14"	"74973485"	"74973485"	"subst"	"2.03224E-5"	"01804"	"LTBP2_000159"	"g.74973485C>T"	""	""	""	"LTBP2(NM_000428.3):c.3949G>A (p.(Gly1317Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000980999"	"0"	"50"	"14"	"74974742"	"74974742"	"subst"	"3.25034E-5"	"01804"	"LTBP2_000160"	"g.74974742C>T"	""	""	""	"LTBP2(NM_000428.3):c.3709G>A (p.(Glu1237Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981000"	"0"	"30"	"14"	"74975353"	"74975353"	"subst"	"3.6688E-5"	"02325"	"LTBP2_000117"	"g.74975353C>A"	""	""	""	"LTBP2(NM_000428.2):c.3606G>T (p.L1202=), LTBP2(NM_000428.3):c.3606G>T (p.L1202=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981001"	"0"	"50"	"14"	"74975542"	"74975542"	"subst"	"1.22027E-5"	"01804"	"LTBP2_000161"	"g.74975542C>T"	""	""	""	"LTBP2(NM_000428.3):c.3517G>A (p.(Val1173Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981002"	"0"	"50"	"14"	"74976521"	"74976521"	"subst"	"6.5001E-5"	"01804"	"LTBP2_000162"	"g.74976521G>A"	""	""	""	"LTBP2(NM_000428.3):c.3193C>T (p.(Leu1065Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981003"	"0"	"50"	"14"	"74988701"	"74988701"	"subst"	"1.63347E-5"	"01804"	"LTBP2_000163"	"g.74988701G>A"	""	""	""	"LTBP2(NM_000428.3):c.2701C>T (p.(Arg901Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981004"	"0"	"30"	"14"	"74995229"	"74995229"	"subst"	"0"	"01804"	"LTBP2_000164"	"g.74995229G>T"	""	""	""	"LTBP2(NM_000428.3):c.2325C>A (p.(Val775=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981005"	"0"	"50"	"14"	"74995744"	"74995744"	"subst"	"0"	"01804"	"LTBP2_000165"	"g.74995744C>T"	""	""	""	"LTBP2(NM_000428.3):c.2069G>A (p.(Arg690Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981006"	"0"	"70"	"14"	"75002663"	"75002664"	"del"	"0"	"02327"	"LTBP2_000166"	"g.75002663_75002664del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000981007"	"0"	"50"	"14"	"75002697"	"75002697"	"subst"	"0.000666298"	"01804"	"LTBP2_000167"	"g.75002697G>A"	""	""	""	"LTBP2(NM_000428.3):c.1796C>T (p.(Pro599Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981008"	"0"	"50"	"14"	"75052819"	"75052819"	"subst"	"0.0002009"	"01804"	"LTBP2_000168"	"g.75052819C>T"	""	""	""	"LTBP2(NM_000428.3):c.568G>A (p.(Val190Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001001142"	"0"	"50"	"14"	"74974697"	"74974697"	"subst"	"8.13147E-6"	"02330"	"LTBP2_000169"	"g.74974697G>T"	""	""	""	"LTBP2(NM_000428.3):c.3754C>A (p.P1252T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001001143"	"0"	"50"	"14"	"74975397"	"74975397"	"subst"	"0"	"02330"	"LTBP2_000170"	"g.74975397G>A"	""	""	""	"LTBP2(NM_000428.3):c.3562C>T (p.P1188S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001001144"	"0"	"30"	"14"	"75018994"	"75018994"	"subst"	"0.0016138"	"01804"	"LTBP2_000057"	"g.75018994G>A"	""	""	""	"LTBP2(NM_000428.2):c.1295C>T (p.P432L, p.(Pro432Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001020115"	"3"	"30"	"14"	"75017841"	"75017841"	"subst"	"0.000236085"	"00006"	"LTBP2_000129"	"g.75017841G>A"	""	"{PMID:Bayam 2024:39609633}"	""	""	"no match with the clinical features homozygous patients"	"Germline"	""	""	"0"	""	""	"g.74551138G>A"	""	"likely benign"	""
"0001040079"	"0"	"50"	"14"	"74970038"	"74970038"	"subst"	"2.03842E-5"	"01804"	"LTBP2_000171"	"g.74970038G>A"	""	""	""	"LTBP2(NM_000428.3):c.4772C>T (p.(Thr1591Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040080"	"0"	"50"	"14"	"74972886"	"74972886"	"subst"	"4.06174E-6"	"01804"	"LTBP2_000172"	"g.74972886C>T"	""	""	""	"LTBP2(NM_000428.3):c.4042G>A (p.(Glu1348Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040081"	"0"	"50"	"14"	"74973473"	"74973473"	"subst"	"0"	"01804"	"LTBP2_000173"	"g.74973473T>G"	""	""	""	"LTBP2(NM_000428.3):c.3961A>C (p.(Asn1321His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040082"	"0"	"50"	"14"	"74975956"	"74975956"	"subst"	"0"	"01804"	"LTBP2_000174"	"g.74975956C>T"	""	""	""	"LTBP2(NM_000428.3):c.3388G>A (p.(Gly1130Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040083"	"0"	"30"	"14"	"74976898"	"74976898"	"subst"	"0.000390908"	"01804"	"LTBP2_000113"	"g.74976898G>A"	""	""	""	"LTBP2(NM_000428.2):c.3047C>T (p.T1016I), LTBP2(NM_000428.3):c.3047C>T (p.(Thr1016Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001040084"	"0"	"50"	"14"	"74995321"	"74995321"	"subst"	"1.23227E-5"	"01804"	"LTBP2_000175"	"g.74995321C>T"	""	""	""	"LTBP2(NM_000428.3):c.2233G>A (p.(Glu745Lys))"	"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 LTBP2
## Count = 239
"{{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}}"
"0000063283"	"00011552"	"10"	"1987"	"21"	"1987"	"21"	"c.1987+21G>A"	"r.(=)"	"p.(=)"	"10i"
"0000063284"	"00011552"	"10"	"2389"	"-44"	"2389"	"-44"	"c.2389-44T>G"	"r.(=)"	"p.(=)"	"13i"
"0000063285"	"00011552"	"10"	"2406"	"0"	"2406"	"0"	"c.2406T>C"	"r.(=)"	"p.(=)"	"14"
"0000063286"	"00011552"	"10"	"1864"	"22"	"1864"	"22"	"c.1864+22C>A"	"r.(=)"	"p.(=)"	"9i"
"0000063287"	"00011552"	"50"	"4369"	"25"	"4369"	"35"	"c.4369+25_4369+35del"	"r.(=)"	"p.(=)"	"29i"
"0000063288"	"00011552"	"10"	"2908"	"33"	"2908"	"33"	"c.2908+33A>C"	"r.(=)"	"p.(=)"	"18i"
"0000063289"	"00011552"	"90"	"688"	"0"	"688"	"0"	"c.688del"	"r.(?)"	"p.(Gln230Argfs*50)"	"3"
"0000063290"	"00011552"	"90"	"1610"	"0"	"1610"	"0"	"c.1610del"	"r.(?)"	"p.(Pro537Leufs*20)"	"7"
"0000063291"	"00011552"	"10"	"4034"	"-48"	"4034"	"-48"	"c.4034-48C>T"	"r.(=)"	"p.(=)"	"27i"
"0000063292"	"00011552"	"10"	"3908"	"-57"	"3908"	"-56"	"c.3908-57_3908-56del"	"r.(=)"	"p.(=)"	"26i"
"0000063293"	"00011552"	"10"	"2429"	"-31"	"2429"	"-31"	"c.2429-31A>G"	"r.(=)"	"p.(=)"	"14i"
"0000063294"	"00011552"	"10"	"1193"	"-61"	"1193"	"-61"	"c.1193-61A>G"	"r.(=)"	"p.(=)"	"5i"
"0000063295"	"00011552"	"10"	"2908"	"30"	"2908"	"30"	"c.2908+30del"	"r.(=)"	"p.(=)"	"19i"
"0000063296"	"00011552"	"10"	"2502"	"0"	"2502"	"0"	"c.2502T>C"	"r.(=)"	"p.(=)"	"15"
"0000063297"	"00011552"	"10"	"2908"	"30"	"2908"	"30"	"c.2908+30G>C"	"r.(=)"	"p.(=)"	"19i"
"0000063298"	"00011552"	"10"	"1400"	"-33"	"1400"	"-33"	"c.1400-33T>C"	"r.(=)"	"p.(=)"	"6i"
"0000132228"	"00011552"	"50"	"4229"	"0"	"4229"	"0"	"c.4229G>A"	"r.(4229g>a)"	"p.(Arg1410His)"	"29"
"0000132229"	"00011552"	"50"	"1681"	"0"	"1681"	"0"	"c.1681G>A"	"r.(1681g>a)"	"p.(Gly561Arg)"	"7"
"0000248311"	"00011552"	"10"	"2502"	"0"	"2502"	"0"	"c.2502="	"r.(=)"	"p.(Thr834=)"	""
"0000250046"	"00011552"	"10"	"2502"	"0"	"2502"	"0"	"c.2502="	"r.(=)"	"p.(Thr834=)"	""
"0000250121"	"00011552"	"10"	"2406"	"0"	"2406"	"0"	"c.2406T>C"	"r.(?)"	"p.(Thr802=)"	""
"0000283590"	"00011552"	"10"	"1021"	"14"	"1021"	"14"	"c.1021+14G>A"	"r.(=)"	"p.(=)"	""
"0000283591"	"00011552"	"10"	"1287"	"0"	"1287"	"0"	"c.1287G>A"	"r.(?)"	"p.(Leu429=)"	""
"0000283592"	"00011552"	"10"	"1790"	"-17"	"1790"	"-17"	"c.1790-17G>A"	"r.(=)"	"p.(=)"	""
"0000283593"	"00011552"	"90"	"2377"	"0"	"2377"	"0"	"c.2377C>T"	"r.(?)"	"p.(Gln793Ter)"	""
"0000283594"	"00011552"	"10"	"2715"	"0"	"2715"	"0"	"c.2715C>T"	"r.(?)"	"p.(Arg905=)"	""
"0000283595"	"00011552"	"10"	"2788"	"13"	"2788"	"13"	"c.2788+13C>T"	"r.(=)"	"p.(=)"	""
"0000283596"	"00011552"	"10"	"3093"	"0"	"3093"	"0"	"c.3093C>T"	"r.(?)"	"p.(Ser1031=)"	""
"0000283597"	"00011552"	"30"	"4720"	"16"	"4720"	"16"	"c.4720+16C>T"	"r.(=)"	"p.(=)"	""
"0000283598"	"00011552"	"10"	"4782"	"0"	"4782"	"0"	"c.4782G>A"	"r.(?)"	"p.(Val1594=)"	""
"0000283599"	"00011552"	"30"	"4888"	"18"	"4888"	"18"	"c.4888+18G>A"	"r.(=)"	"p.(=)"	""
"0000283600"	"00011552"	"10"	"956"	"0"	"956"	"0"	"c.956C>A"	"r.(?)"	"p.(Pro319Gln)"	""
"0000291241"	"00011552"	"30"	"1295"	"0"	"1295"	"0"	"c.1295C>T"	"r.(?)"	"p.(Pro432Leu)"	""
"0000291242"	"00011552"	"30"	"2853"	"0"	"2853"	"0"	"c.2853G>A"	"r.(?)"	"p.(Ser951=)"	""
"0000291243"	"00011552"	"30"	"4545"	"0"	"4545"	"0"	"c.4545C>T"	"r.(?)"	"p.(Pro1515=)"	""
"0000291244"	"00011552"	"30"	"4582"	"9"	"4582"	"9"	"c.4582+9A>C"	"r.(=)"	"p.(=)"	""
"0000291245"	"00011552"	"30"	"819"	"0"	"819"	"0"	"c.819G>A"	"r.(?)"	"p.(Ser273=)"	""
"0000304425"	"00011552"	"50"	"13131"	"0"	"13131"	"0"	"c.*7665C>A"	"r.(=)"	"p.(=)"	""
"0000338698"	"00011552"	"10"	"2788"	"13"	"2788"	"13"	"c.2788+13C>T"	"r.(=)"	"p.(=)"	""
"0000340431"	"00011552"	"10"	"2406"	"0"	"2406"	"0"	"c.2406T>C"	"r.(?)"	"p.(Thr802=)"	""
"0000346267"	"00011552"	"70"	"12021"	"0"	"12021"	"0"	"c.*6555C>T"	"r.(=)"	"p.(=)"	""
"0000486924"	"00011552"	"95"	"331"	"0"	"331"	"0"	"c.331C>T"	"r.(?)"	"p.(Gln111*)"	"1"
"0000486925"	"00011552"	"95"	"331"	"0"	"331"	"0"	"c.331C>T"	"r.(?)"	"p.(Gln111*)"	"1"
"0000486926"	"00011552"	"95"	"412"	"0"	"412"	"0"	"c.412del"	"r.(?)"	"p.(Ala138Profs*142)"	"1"
"0000486927"	"00011552"	"95"	"412"	"0"	"412"	"0"	"c.412del"	"r.(?)"	"p.(Ala138Profs*142)"	"1"
"0000486928"	"00011552"	"95"	"895"	"0"	"895"	"0"	"c.895C>T"	"r.(?)"	"p.(Arg299*)"	"4"
"0000486929"	"00011552"	"95"	"895"	"0"	"895"	"0"	"c.895C>T"	"r.(?)"	"p.(Arg299*)"	"4"
"0000486930"	"00011552"	"95"	"895"	"0"	"895"	"0"	"c.895C>T"	"r.(?)"	"p.(Arg299*)"	"4"
"0000486931"	"00011552"	"95"	"895"	"0"	"895"	"0"	"c.895C>T"	"r.(?)"	"p.(Arg299*)"	"4"
"0000486932"	"00011552"	"95"	"895"	"0"	"895"	"0"	"c.895C>T"	"r.(?)"	"p.(Arg299*)"	"4"
"0000486933"	"00011552"	"95"	"895"	"0"	"895"	"0"	"c.895C>T"	"r.(?)"	"p.(Arg299*)"	"4"
"0000486934"	"00011552"	"95"	"895"	"0"	"895"	"0"	"c.895C>T"	"r.(?)"	"p.(Arg299*)"	"4"
"0000486935"	"00011552"	"95"	"1012"	"0"	"1012"	"0"	"c.1012del"	"r.(?)"	"p.(Ser338Profs*5)"	"4"
"0000486936"	"00011552"	"95"	"1012"	"0"	"1012"	"0"	"c.1012del"	"r.(?)"	"p.(Ser338Profs*5)"	"4"
"0000486937"	"00011552"	"55"	"1021"	"14"	"1021"	"14"	"c.1021+14G>A"	"r.(?)"	"p.(=)"	"4i"
"0000486938"	"00011552"	"95"	"1243"	"0"	"1256"	"0"	"c.1243_1256del"	"r.(?)"	"p.(Glu415Argfs*183)"	"6"
"0000486939"	"00011552"	"95"	"1243"	"0"	"1256"	"0"	"c.1243_1256del"	"r.(?)"	"p.(Glu415Argfs*183)"	"6"
"0000486940"	"00011552"	"35"	"1287"	"0"	"1287"	"0"	"c.1287G>A"	"r.(?)"	"p.(=)"	"6"
"0000486941"	"00011552"	"35"	"1287"	"0"	"1287"	"0"	"c.1287G>A"	"r.(?)"	"p.(=)"	"6"
"0000486942"	"00011552"	"55"	"1287"	"0"	"1287"	"0"	"c.1287G>A"	"r.(?)"	"p.(=)"	"6"
"0000486943"	"00011552"	"55"	"1287"	"0"	"1287"	"0"	"c.1287G>A"	"r.(?)"	"p.(=)"	"6"
"0000486944"	"00011552"	"95"	"1417"	"0"	"1417"	"0"	"c.1417del"	"r.(?)"	"p.(Leu473Trpfs*2)"	"7"
"0000486945"	"00011552"	"95"	"1417"	"0"	"1417"	"0"	"c.1417del"	"r.(?)"	"p.(Leu473Trpfs*2)"	"7"
"0000486946"	"00011552"	"95"	"1642"	"0"	"1642"	"0"	"c.1642C>T"	"r.(?)"	"p.(Arg548*)"	"7"
"0000486947"	"00011552"	"55"	"1642"	"0"	"1642"	"0"	"c.1642C>T"	"r.(?)"	"p.(Arg548*)"	"7"
"0000486949"	"00011552"	"90"	"1796"	"0"	"1796"	"0"	"c.1796dup"	"r.0"	"p.0"	"9"
"0000486950"	"00011552"	"55"	"2659"	"67"	"2659"	"67"	"c.2659+67G>C"	"r.(?)"	"p.(=)"	"16i"
"0000486951"	"00011552"	"55"	"2788"	"13"	"2788"	"13"	"c.2788+13C>T"	"r.(?)"	"p.(=)"	"17i"
"0000486952"	"00011552"	"55"	"2788"	"13"	"2788"	"13"	"c.2788+13C>T"	"r.(?)"	"p.(=)"	"17i"
"0000486953"	"00011552"	"55"	"2908"	"30"	"290833"	"0"	"c.2908+30_290833delinsCCC"	"r.(?)"	"p.(=)"	"18i"
"0000486954"	"00011552"	"55"	"2908"	"30"	"290833"	"0"	"c.2908+30_290833delinsCCC"	"r.(?)"	"p.(=)"	"18i"
"0000486955"	"00011552"	"55"	"2908"	"30"	"290833"	"0"	"c.2908+30_290833delinsCCC"	"r.(?)"	"p.(=)"	"18i"
"0000486956"	"00011552"	"55"	"2908"	"30"	"290833"	"0"	"c.2908+30_290833delinsCCC"	"r.(?)"	"p.(=)"	"18i"
"0000486957"	"00011552"	"75"	"2966"	"0"	"2966"	"0"	"c.2966C>G"	"r.(?)"	"p.(Pro989Arg)"	"19"
"0000486958"	"00011552"	"75"	"2966"	"0"	"2966"	"0"	"c.2966C>G"	"r.(?)"	"p.(Pro989Arg)"	"19"
"0000486959"	"00011552"	"55"	"3151"	"112"	"3151"	"112"	"c.3151+112T>C"	"r.(?)"	"p.(=)"	"20i"
"0000486960"	"00011552"	"35"	"3262"	"0"	"3262"	"0"	"c.3262G>A"	"r.(?)"	"p.(Gly1088Ser)"	"21"
"0000486961"	"00011552"	"35"	"3262"	"0"	"3262"	"0"	"c.3262G>A"	"r.(?)"	"p.(Gly1088Ser)"	"21"
"0000486962"	"00011552"	"35"	"3262"	"0"	"3262"	"0"	"c.3262G>A"	"r.(?)"	"p.(Gly1088Ser)"	"21"
"0000486963"	"00011552"	"35"	"3262"	"0"	"3262"	"0"	"c.3262G>A"	"r.(?)"	"p.(Gly1088Ser)"	"21"
"0000486964"	"00011552"	"35"	"3262"	"0"	"3262"	"0"	"c.3262G>A"	"r.(?)"	"p.(Gly1088Ser)"	"21"
"0000486965"	"00011552"	"35"	"3262"	"0"	"3262"	"0"	"c.3262G>A"	"r.(?)"	"p.(Gly1088Ser)"	"21"
"0000486966"	"00011552"	"55"	"3468"	"0"	"3468"	"0"	"c.3468C>T"	"r.(spl?)"	"p.(?)"	"23"
"0000486967"	"00011552"	"55"	"3468"	"0"	"3468"	"0"	"c.3468C>T"	"r.(spl?)"	"p.(?)"	"23"
"0000486968"	"00011552"	"95"	"3529"	"0"	"3529"	"0"	"c.3529G>A"	"r.(?)"	"p.(Val1177Met)"	"24"
"0000486969"	"00011552"	"95"	"3529"	"0"	"3529"	"0"	"c.3529G>A"	"r.(?)"	"p.(Val1177Met)"	"24"
"0000486970"	"00011552"	"55"	"3529"	"0"	"3529"	"0"	"c.3529G>A"	"r.(?)"	"p.(Val1177Met)"	"24"
"0000486971"	"00011552"	"95"	"4313"	"0"	"4313"	"0"	"c.4313G>A"	"r.(?)"	"p.(Cys1438Tyr)"	"29"
"0000486972"	"00011552"	"95"	"4313"	"0"	"4313"	"0"	"c.4313G>A"	"r.(?)"	"p.(Cys1438Tyr)"	"29"
"0000486973"	"00011552"	"75"	"4808"	"0"	"4808"	"0"	"c.4808G>A"	"r.(?)"	"p.(Arg1603His)"	"33"
"0000486974"	"00011552"	"95"	"4855"	"0"	"4855"	"0"	"c.4855C>T"	"r.(?)"	"p.(Gln1619*)"	"33"
"0000486975"	"00011552"	"95"	"4855"	"0"	"4855"	"0"	"c.4855C>T"	"r.(?)"	"p.(Gln1619*)"	"33"
"0000486976"	"00011552"	"55"	"4965"	"0"	"4965"	"0"	"c.4965T>C"	"r.(?)"	"p.(=)"	"34"
"0000486977"	"00011552"	"95"	"5376"	"0"	"5376"	"0"	"c.5376del"	"r.(?)"	"p.(Cys1793Alafs*55)"	"36"
"0000486978"	"00011552"	"95"	"5376"	"0"	"5376"	"0"	"c.5376del"	"r.(?)"	"p.(Cys1793Alafs*55)"	"36"
"0000486979"	"00011552"	"95"	"5446"	"0"	"5446"	"0"	"c.5446dup"	"r.(?)"	"p.(His1816Profs*28)"	"36"
"0000486980"	"00011552"	"95"	"5446"	"0"	"5446"	"0"	"c.5446dup"	"r.(?)"	"p.(His1816Profs*28)"	"36"
"0000553002"	"00011552"	"90"	"13133"	"0"	"13133"	"0"	"c.*7667G>T"	"r.(=)"	"p.(=)"	""
"0000553003"	"00011552"	"70"	"12502"	"0"	"12502"	"0"	"c.*7036T>A"	"r.(=)"	"p.(=)"	""
"0000553006"	"00011552"	"50"	"4798"	"0"	"4798"	"0"	"c.4798C>T"	"r.(?)"	"p.(Arg1600Cys)"	""
"0000553007"	"00011552"	"30"	"4769"	"0"	"4769"	"0"	"c.4769T>C"	"r.(?)"	"p.(Val1590Ala)"	""
"0000553008"	"00011552"	"50"	"4354"	"0"	"4354"	"0"	"c.4354C>T"	"r.(?)"	"p.(Pro1452Ser)"	""
"0000553009"	"00011552"	"30"	"4286"	"0"	"4286"	"0"	"c.4286G>A"	"r.(?)"	"p.(Arg1429Gln)"	""
"0000553011"	"00011552"	"30"	"4203"	"0"	"4203"	"0"	"c.4203G>A"	"r.(?)"	"p.(Thr1401=)"	""
"0000553012"	"00011552"	"30"	"4137"	"0"	"4137"	"0"	"c.4137C>T"	"r.(?)"	"p.(Tyr1379=)"	""
"0000553013"	"00011552"	"50"	"4047"	"0"	"4047"	"0"	"c.4047T>G"	"r.(?)"	"p.(Cys1349Trp)"	""
"0000553014"	"00011552"	"10"	"3891"	"0"	"3891"	"0"	"c.3891G>A"	"r.(?)"	"p.(Pro1297=)"	""
"0000553015"	"00011552"	"50"	"3611"	"0"	"3611"	"0"	"c.3611C>T"	"r.(?)"	"p.(Ala1204Val)"	""
"0000553016"	"00011552"	"30"	"3510"	"0"	"3510"	"0"	"c.3510T>C"	"r.(?)"	"p.(Asn1170=)"	""
"0000553017"	"00011552"	"10"	"3333"	"0"	"3333"	"0"	"c.3333G>A"	"r.(?)"	"p.(Thr1111=)"	""
"0000553018"	"00011552"	"10"	"3278"	"-16"	"3278"	"-16"	"c.3278-16C>T"	"r.(=)"	"p.(=)"	""
"0000553019"	"00011552"	"30"	"3262"	"0"	"3262"	"0"	"c.3262G>A"	"r.(?)"	"p.(Gly1088Ser)"	""
"0000553020"	"00011552"	"10"	"3262"	"0"	"3262"	"0"	"c.3262G>A"	"r.(?)"	"p.(Gly1088Ser)"	""
"0000553021"	"00011552"	"50"	"3176"	"0"	"3176"	"0"	"c.3176C>T"	"r.(?)"	"p.(Ala1059Val)"	""
"0000553022"	"00011552"	"30"	"2966"	"0"	"2966"	"0"	"c.2966C>G"	"r.(?)"	"p.(Pro989Arg)"	""
"0000553023"	"00011552"	"30"	"2916"	"0"	"2916"	"0"	"c.2916C>T"	"r.(?)"	"p.(Asn972=)"	""
"0000553025"	"00011552"	"50"	"2845"	"0"	"2845"	"0"	"c.2845G>A"	"r.(?)"	"p.(Glu949Lys)"	""
"0000553026"	"00011552"	"30"	"2794"	"0"	"2794"	"0"	"c.2794A>G"	"r.(?)"	"p.(Asn932Asp)"	""
"0000553027"	"00011552"	"30"	"2657"	"0"	"2657"	"0"	"c.2657C>A"	"r.(?)"	"p.(Thr886Lys)"	""
"0000553028"	"00011552"	"30"	"2648"	"0"	"2648"	"0"	"c.2648C>T"	"r.(?)"	"p.(Ala883Val)"	""
"0000553029"	"00011552"	"30"	"2031"	"0"	"2031"	"0"	"c.2031G>A"	"r.(?)"	"p.(Ser677=)"	""
"0000553030"	"00011552"	"10"	"1553"	"0"	"1553"	"0"	"c.1553G>T"	"r.(?)"	"p.(Ser518Ile)"	""
"0000553031"	"00011552"	"10"	"1399"	"10"	"1399"	"10"	"c.1399+10G>T"	"r.(=)"	"p.(=)"	""
"0000553032"	"00011552"	"30"	"1309"	"0"	"1309"	"0"	"c.1309G>A"	"r.(?)"	"p.(Glu437Lys)"	""
"0000553033"	"00011552"	"30"	"1035"	"0"	"1035"	"0"	"c.1035G>A"	"r.(?)"	"p.(Thr345=)"	""
"0000553034"	"00011552"	"50"	"507"	"0"	"507"	"0"	"c.507C>T"	"r.(?)"	"p.(Cys169=)"	""
"0000553035"	"00011552"	"30"	"378"	"0"	"378"	"0"	"c.378C>T"	"r.(?)"	"p.(Pro126=)"	""
"0000553036"	"00011552"	"10"	"110"	"0"	"110"	"0"	"c.110G>T"	"r.(?)"	"p.(Arg37Met)"	""
"0000553037"	"00011552"	"30"	"31"	"0"	"31"	"0"	"c.31G>A"	"r.(?)"	"p.(Gly11Arg)"	""
"0000615071"	"00011552"	"30"	"5102"	"0"	"5102"	"0"	"c.5102G>A"	"r.(?)"	"p.(Arg1701His)"	""
"0000615072"	"00011552"	"30"	"4905"	"0"	"4905"	"0"	"c.4905G>C"	"r.(?)"	"p.(Leu1635=)"	""
"0000615073"	"00011552"	"50"	"4820"	"0"	"4820"	"0"	"c.4820C>T"	"r.(?)"	"p.(Thr1607Met)"	""
"0000615074"	"00011552"	"90"	"4248"	"0"	"4248"	"0"	"c.4248dup"	"r.(?)"	"p.(Gln1417AlafsTer19)"	""
"0000615075"	"00011552"	"30"	"4072"	"0"	"4072"	"0"	"c.4072G>T"	"r.(?)"	"p.(Ala1358Ser)"	""
"0000615076"	"00011552"	"30"	"2853"	"0"	"2853"	"0"	"c.2853G>A"	"r.(?)"	"p.(Ser951=)"	""
"0000615077"	"00011552"	"50"	"2837"	"0"	"2837"	"0"	"c.2837C>T"	"r.(?)"	"p.(Thr946Ile)"	""
"0000615078"	"00011552"	"50"	"1577"	"0"	"1577"	"0"	"c.1577G>A"	"r.(?)"	"p.(Ser526Asn)"	""
"0000615079"	"00011552"	"30"	"1399"	"9"	"1399"	"9"	"c.1399+9C>T"	"r.(=)"	"p.(=)"	""
"0000615080"	"00011552"	"30"	"1389"	"0"	"1389"	"0"	"c.1389C>T"	"r.(?)"	"p.(Ser463=)"	""
"0000615081"	"00011552"	"50"	"1009"	"0"	"1009"	"0"	"c.1009T>C"	"r.(?)"	"p.(Ser337Pro)"	""
"0000615082"	"00011552"	"90"	"895"	"0"	"895"	"0"	"c.895C>T"	"r.(?)"	"p.(Arg299Ter)"	""
"0000615083"	"00011552"	"50"	"804"	"0"	"821"	"0"	"c.804_821del"	"r.(?)"	"p.(Pro271_Ala276del)"	""
"0000615084"	"00011552"	"50"	"30"	"0"	"30"	"0"	"c.30G>T"	"r.(?)"	"p.(Pro10=)"	""
"0000615085"	"00011552"	"50"	"29"	"0"	"29"	"0"	"c.29C>T"	"r.(?)"	"p.(Pro10Leu)"	""
"0000623162"	"00011552"	"30"	"12209"	"0"	"12209"	"0"	"c.*6743T>G"	"r.(=)"	"p.(=)"	""
"0000623163"	"00011552"	"30"	"4889"	"-9"	"4889"	"-9"	"c.4889-9C>T"	"r.(=)"	"p.(=)"	""
"0000623164"	"00011552"	"30"	"2880"	"0"	"2880"	"0"	"c.2880C>T"	"r.(?)"	"p.(Tyr960=)"	""
"0000623165"	"00011552"	"30"	"1797"	"0"	"1797"	"0"	"c.1797G>A"	"r.(?)"	"p.(Pro599=)"	""
"0000648969"	"00011552"	"50"	"2657"	"0"	"2657"	"0"	"c.2657C>A"	"r.(?)"	"p.(Thr886Lys)"	""
"0000648970"	"00011552"	"10"	"1553"	"0"	"1553"	"0"	"c.1553G>T"	"r.(?)"	"p.(Ser518Ile)"	""
"0000657480"	"00011552"	"30"	"5056"	"0"	"5056"	"0"	"c.5056G>A"	"r.(?)"	"p.(Val1686Ile)"	""
"0000657481"	"00011552"	"50"	"4516"	"0"	"4516"	"0"	"c.4516G>A"	"r.(?)"	"p.(Val1506Met)"	""
"0000657482"	"00011552"	"50"	"4457"	"0"	"4457"	"0"	"c.4457C>T"	"r.(?)"	"p.(Ala1486Val)"	""
"0000657483"	"00011552"	"30"	"3883"	"0"	"3883"	"0"	"c.3883A>G"	"r.(?)"	"p.(Met1295Val)"	""
"0000657484"	"00011552"	"50"	"3047"	"0"	"3047"	"0"	"c.3047C>T"	"r.(?)"	"p.(Thr1016Ile)"	""
"0000657485"	"00011552"	"30"	"1680"	"0"	"1680"	"0"	"c.1680C>T"	"r.(?)"	"p.(Asn560=)"	""
"0000680025"	"00011552"	"50"	"11488"	"0"	"11488"	"0"	"c.*6022G>T"	"r.(=)"	"p.(=)"	""
"0000680026"	"00011552"	"30"	"5301"	"0"	"5301"	"0"	"c.5301G>A"	"r.(?)"	"p.(Ala1767=)"	""
"0000680027"	"00011552"	"50"	"4934"	"0"	"4934"	"0"	"c.4934G>A"	"r.(?)"	"p.(Arg1645Gln)"	""
"0000680028"	"00011552"	"30"	"4516"	"0"	"4516"	"0"	"c.4516G>A"	"r.(?)"	"p.(Val1506Met)"	""
"0000680029"	"00011552"	"30"	"3606"	"0"	"3606"	"0"	"c.3606G>T"	"r.(?)"	"p.(Leu1202=)"	""
"0000680030"	"00011552"	"50"	"3572"	"0"	"3572"	"0"	"c.3572A>C"	"r.(?)"	"p.(Glu1191Ala)"	""
"0000680031"	"00011552"	"50"	"2668"	"0"	"2668"	"0"	"c.2668G>A"	"r.(?)"	"p.(Glu890Lys)"	""
"0000680032"	"00011552"	"50"	"2240"	"0"	"2240"	"0"	"c.2240A>G"	"r.(?)"	"p.(Glu747Gly)"	""
"0000680033"	"00011552"	"30"	"1071"	"0"	"1071"	"0"	"c.1071C>T"	"r.(?)"	"p.(Pro357=)"	""
"0000680034"	"00011552"	"50"	"785"	"0"	"785"	"0"	"c.785C>T"	"r.(?)"	"p.(Pro262Leu)"	""
"0000680035"	"00011552"	"50"	"370"	"0"	"370"	"0"	"c.370A>T"	"r.(?)"	"p.(Ser124Cys)"	""
"0000691702"	"00011552"	"30"	"4821"	"0"	"4821"	"0"	"c.4821G>A"	"r.(?)"	"p.(Thr1607=)"	""
"0000691703"	"00011552"	"50"	"2668"	"0"	"2668"	"0"	"c.2668G>A"	"r.(?)"	"p.(Glu890Lys)"	""
"0000691704"	"00011552"	"50"	"1903"	"0"	"1903"	"0"	"c.1903G>A"	"r.(?)"	"p.(Ala635Thr)"	""
"0000691705"	"00011552"	"30"	"1296"	"0"	"1296"	"0"	"c.1296G>A"	"r.(?)"	"p.(Pro432=)"	""
"0000691706"	"00011552"	"50"	"581"	"0"	"581"	"0"	"c.581C>T"	"r.(?)"	"p.(Pro194Leu)"	""
"0000691707"	"00011552"	"50"	"68"	"0"	"68"	"0"	"c.68C>A"	"r.(?)"	"p.(Pro23Gln)"	""
"0000724854"	"00011552"	"30"	"12532"	"0"	"12532"	"0"	"c.*7066C>G"	"r.(=)"	"p.(=)"	""
"0000724855"	"00011552"	"50"	"4821"	"0"	"4821"	"0"	"c.4821G>A"	"r.(?)"	"p.(Thr1607=)"	""
"0000724856"	"00011552"	"50"	"3406"	"0"	"3406"	"0"	"c.3406G>A"	"r.(?)"	"p.(Val1136Met)"	""
"0000724857"	"00011552"	"30"	"2789"	"-9"	"2789"	"-9"	"c.2789-9T>C"	"r.(=)"	"p.(=)"	""
"0000724858"	"00011552"	"50"	"1612"	"0"	"1612"	"0"	"c.1612C>T"	"r.(?)"	"p.(Arg538Trp)"	""
"0000724859"	"00011552"	"30"	"1296"	"0"	"1296"	"0"	"c.1296G>T"	"r.(?)"	"p.(Pro432=)"	""
"0000797394"	"00011552"	"70"	"895"	"0"	"895"	"0"	"c.895C>T"	"r.(?)"	"p.(Arg299*)"	""
"0000806481"	"00011552"	"30"	"12263"	"0"	"12263"	"0"	"c.*6797C>T"	"r.(=)"	"p.(=)"	""
"0000806482"	"00011552"	"50"	"4621"	"0"	"4621"	"0"	"c.4621G>A"	"r.(?)"	"p.(Glu1541Lys)"	""
"0000806483"	"00011552"	"30"	"3883"	"0"	"3883"	"0"	"c.3883A>G"	"r.(?)"	"p.(Met1295Val)"	""
"0000806484"	"00011552"	"30"	"2394"	"0"	"2394"	"0"	"c.2394G>A"	"r.(?)"	"p.(Thr798=)"	""
"0000806485"	"00011552"	"50"	"2326"	"0"	"2326"	"0"	"c.2326G>A"	"r.(?)"	"p.(Val776Ile)"	""
"0000806486"	"00011552"	"70"	"2135"	"0"	"2135"	"0"	"c.2135G>A"	"r.(?)"	"p.(Cys712Tyr)"	""
"0000814365"	"00011552"	"90"	"3578"	"0"	"3581"	"0"	"c.3578_3581dup"	"r.(?)"	"p.(Ser1195GlnfsTer52)"	""
"0000814392"	"00011552"	"50"	"507"	"0"	"507"	"0"	"c.507C>G"	"r.(?)"	"p.(Cys169Trp)"	""
"0000814402"	"00011552"	"90"	"3427"	"0"	"3427"	"0"	"c.3427delC"	"r.(?)"	"p.(Gln1143ArgfsTer35)"	""
"0000814459"	"00011552"	"90"	"469"	"0"	"469"	"0"	"c.469delA"	"r.(?)"	"p.(Thr157ProfsTer123)"	""
"0000853881"	"00011552"	"50"	"4919"	"0"	"4919"	"0"	"c.4919G>A"	"r.(?)"	"p.(Arg1640His)"	""
"0000853882"	"00011552"	"30"	"4161"	"0"	"4161"	"0"	"c.4161C>T"	"r.(?)"	"p.(Arg1387=)"	""
"0000853883"	"00011552"	"30"	"800"	"0"	"800"	"0"	"c.800C>T"	"r.(?)"	"p.(Ser267Leu)"	""
"0000863639"	"00011552"	"50"	"12054"	"0"	"12054"	"0"	"c.*6588C>T"	"r.(=)"	"p.(=)"	""
"0000863640"	"00011552"	"50"	"4964"	"0"	"4964"	"0"	"c.4964A>G"	"r.(?)"	"p.(Tyr1655Cys)"	""
"0000863641"	"00011552"	"50"	"4895"	"0"	"4895"	"0"	"c.4895A>G"	"r.(?)"	"p.(Tyr1632Cys)"	""
"0000863642"	"00011552"	"10"	"4769"	"0"	"4769"	"0"	"c.4769T>C"	"r.(?)"	"p.(Val1590Ala)"	""
"0000863643"	"00011552"	"50"	"4546"	"0"	"4546"	"0"	"c.4546G>A"	"r.(?)"	"p.(Gly1516Ser)"	""
"0000863644"	"00011552"	"50"	"3176"	"0"	"3176"	"0"	"c.3176C>T"	"r.(?)"	"p.(Ala1059Val)"	""
"0000863645"	"00011552"	"50"	"2562"	"0"	"2562"	"0"	"c.2562C>A"	"r.(?)"	"p.(Asn854Lys)"	""
"0000863646"	"00011552"	"30"	"2040"	"0"	"2040"	"0"	"c.2040C>T"	"r.(?)"	"p.(Pro680=)"	""
"0000863647"	"00011552"	"30"	"1583"	"0"	"1583"	"0"	"c.1583A>C"	"r.(?)"	"p.(Asn528Thr)"	""
"0000863648"	"00011552"	"30"	"1553"	"0"	"1553"	"0"	"c.1553G>T"	"r.(?)"	"p.(Ser518Ile)"	""
"0000863649"	"00011552"	"30"	"800"	"0"	"800"	"0"	"c.800C>T"	"r.(?)"	"p.(Ser267Leu)"	""
"0000891867"	"00011552"	"30"	"5114"	"0"	"5114"	"0"	"c.5114T>C"	"r.(?)"	"p.(Leu1705Pro)"	""
"0000891868"	"00011552"	"30"	"4978"	"0"	"4978"	"0"	"c.4978G>T"	"r.(?)"	"p.(Gly1660Trp)"	""
"0000891869"	"00011552"	"30"	"4177"	"3"	"4177"	"3"	"c.4177+3G>A"	"r.spl?"	"p.?"	""
"0000891870"	"00011552"	"30"	"2333"	"0"	"2333"	"0"	"c.2333A>G"	"r.(?)"	"p.(Asp778Gly)"	""
"0000891871"	"00011552"	"30"	"2119"	"0"	"2119"	"0"	"c.2119A>C"	"r.(?)"	"p.(Ser707Arg)"	""
"0000925911"	"00011552"	"50"	"5446"	"0"	"5446"	"0"	"c.5446C>A"	"r.(?)"	"p.(His1816Asn)"	""
"0000925912"	"00011552"	"30"	"3921"	"0"	"3921"	"0"	"c.3921C>T"	"r.(?)"	"p.(Cys1307=)"	""
"0000925913"	"00011552"	"50"	"2713"	"0"	"2713"	"0"	"c.2713C>T"	"r.(?)"	"p.(Arg905Cys)"	""
"0000930328"	"00011552"	"50"	"4964"	"0"	"4964"	"0"	"c.4964A>G"	"r.(?)"	"p.(Tyr1655Cys)"	""
"0000930329"	"00011552"	"50"	"2541"	"0"	"2541"	"0"	"c.2541A>G"	"r.(?)"	"p.(=)"	""
"0000930330"	"00011552"	"90"	"895"	"0"	"895"	"0"	"c.895C>T"	"r.(?)"	"p.(Arg299Ter)"	""
"0000930331"	"00011552"	"30"	"818"	"0"	"818"	"0"	"c.818C>T"	"r.(?)"	"p.(Ser273Leu)"	""
"0000980996"	"00011552"	"50"	"4934"	"0"	"4934"	"0"	"c.4934G>A"	"r.(?)"	"p.(Arg1645Gln)"	""
"0000980997"	"00011552"	"30"	"4453"	"4"	"4453"	"4"	"c.4453+4A>G"	"r.spl?"	"p.?"	""
"0000980998"	"00011552"	"50"	"3949"	"0"	"3949"	"0"	"c.3949G>A"	"r.(?)"	"p.(Gly1317Ser)"	""
"0000980999"	"00011552"	"50"	"3709"	"0"	"3709"	"0"	"c.3709G>A"	"r.(?)"	"p.(Glu1237Lys)"	""
"0000981000"	"00011552"	"30"	"3606"	"0"	"3606"	"0"	"c.3606G>T"	"r.(?)"	"p.(Leu1202=)"	""
"0000981001"	"00011552"	"50"	"3517"	"0"	"3517"	"0"	"c.3517G>A"	"r.(?)"	"p.(Val1173Met)"	""
"0000981002"	"00011552"	"50"	"3193"	"0"	"3193"	"0"	"c.3193C>T"	"r.(?)"	"p.(Leu1065Phe)"	""
"0000981003"	"00011552"	"50"	"2701"	"0"	"2701"	"0"	"c.2701C>T"	"r.(?)"	"p.(Arg901Cys)"	""
"0000981004"	"00011552"	"30"	"2325"	"0"	"2325"	"0"	"c.2325C>A"	"r.(?)"	"p.(=)"	""
"0000981005"	"00011552"	"50"	"2069"	"0"	"2069"	"0"	"c.2069G>A"	"r.(?)"	"p.(Arg690Gln)"	""
"0000981006"	"00011552"	"70"	"1829"	"0"	"1830"	"0"	"c.1829_1830del"	"r.(?)"	"p.(Gln610Argfs*100)"	""
"0000981007"	"00011552"	"50"	"1796"	"0"	"1796"	"0"	"c.1796C>T"	"r.(?)"	"p.(Pro599Leu)"	""
"0000981008"	"00011552"	"50"	"568"	"0"	"568"	"0"	"c.568G>A"	"r.(?)"	"p.(Val190Ile)"	""
"0001001142"	"00011552"	"50"	"3754"	"0"	"3754"	"0"	"c.3754C>A"	"r.(?)"	"p.(Pro1252Thr)"	""
"0001001143"	"00011552"	"50"	"3562"	"0"	"3562"	"0"	"c.3562C>T"	"r.(?)"	"p.(Pro1188Ser)"	""
"0001001144"	"00011552"	"30"	"1295"	"0"	"1295"	"0"	"c.1295C>T"	"r.(?)"	"p.(Pro432Leu)"	""
"0001020115"	"00011552"	"30"	"1612"	"0"	"1612"	"0"	"c.1612C>T"	"r.(?)"	"p.(Arg538Trp)"	""
"0001040079"	"00011552"	"50"	"4772"	"0"	"4772"	"0"	"c.4772C>T"	"r.(?)"	"p.(Thr1591Ile)"	""
"0001040080"	"00011552"	"50"	"4042"	"0"	"4042"	"0"	"c.4042G>A"	"r.(?)"	"p.(Glu1348Lys)"	""
"0001040081"	"00011552"	"50"	"3961"	"0"	"3961"	"0"	"c.3961A>C"	"r.(?)"	"p.(Asn1321His)"	""
"0001040082"	"00011552"	"50"	"3388"	"0"	"3388"	"0"	"c.3388G>A"	"r.(?)"	"p.(Gly1130Ser)"	""
"0001040083"	"00011552"	"30"	"3047"	"0"	"3047"	"0"	"c.3047C>T"	"r.(?)"	"p.(Thr1016Ile)"	""
"0001040084"	"00011552"	"50"	"2233"	"0"	"2233"	"0"	"c.2233G>A"	"r.(?)"	"p.(Glu745Lys)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 82
"{{screeningid}}"	"{{variantid}}"
"0000036158"	"0000063283"
"0000036159"	"0000063284"
"0000036160"	"0000063285"
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