### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = COL3A1)
# 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}}"
"COL3A1"	"collagen type III alpha 1 chain"	"2"	"q32.2"	"unknown"	"NG_007404.1"	"UD_132118393013"	""	"https://www.LOVD.nl/COL3A1"	""	"1"	"2201"	"1281"	"120180"	"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"	"https://databases.lovd.nl/shared/refseq/COL3A1_codingDNA.html"	"1"	""	"<div style=\"text-align : left;\"><p><a href=\"https://www.ehlers-danlos.com/\" target=\"_blank\"><img src=\"gfx/logo_eds_main_small.png\" width=\"211\" ></a></p><p style=\"font-size:20px\"><strong>Ehlers Danlos Syndrome Variant Database</strong><br></p><form action=\"\" id=\"SelectGeneCOL3A1\" method=\"get\" style=\"margin : 0px;\" onsubmit=\"document.location.href=(document.location.href.replace(\'COL3A1\', $(this).children(\'select\').val())); return false;\">\r\n<select name=\"select_db\" onchange=\"$(this).parent().submit();\">\r\n\r\n<option value=\"ADAMTS2\">ADAMTS2 (ADAM metallopeptidase with thrombospondin type 1 motif 2) </option>\r\n<option value=\"AEBP1\">AEBP1 (AE binding protein 1)</option>\r\n<option value=\"B3GALT6\">B3GALT6 (beta-1,3-galactosyltransferase 6)</option>\r\n<option value=\"B4GALT7\">B4GALT7 (beta-1,4-galactosyltransferase 7)</option>\r\n<option value=\"C1R\">C1R (complement component 1, r subcomponent)</option>\r\n<option value=\"C1S\">C1S (complement component 1, s subcomponent)</option>\r\n<option value=\"CHST14\"> CHST14 (carbohydrate sulfotransferase 14)</option>\r\n<option value=\"COL12A1\"> COL12A1 (collagen type XII alpha 1 chain)</option>\r\n<option value=\"COL1A1\"> COL1A1 (collagen type I alpha 1 chain)</option>\r\n<option value=\"COL1A2\"> COL1A2 (collagen type I alpha 2 chain)</option>\r\n<option value=\"COL3A1\" selected> COL3A1 (collagen type III alpha 1 chain)</option>\r\n<option value=\"COL5A1\"> COL5A1 (collagen type V alpha 1 chain)</option>\r\n<option value=\"COL5A2\"> COL5A2 (collagen type V alpha 2 chain)</option>\r\n<option value=\"DSE\">DSE (dermatan sulfate epimerase)</option>\r\n<option value=\"FKBP14\">FKBP14 (FKBP prolyl isomerase 14)</option>\r\n<option value=\"PLOD1\"> PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1)</option>\r\n<option value=\"PRDM5\"> PRDM5 (PR domain containing 5)</option>\r\n<option value=\"SLC39A13\"> SLC39A13 (solute carrier family 39 (zinc transporter), member 13)</option>\r\n<option value=\"TNXB\"> TNXB (tenascin XB)</option>\r\n<option value=\"ZNF469\"> ZNF469 (zinc finger protein 469)</option>\r\n</select>\r\n<input type=\"submit\" value=\"Switch EDS Gene\">\r\n</form>\r\n<br></div>"	"-1"	""	"-1"	"00001"	"2008-07-03 00:00:00"	"00085"	"2024-02-13 14:18:57"	"00000"	"2025-07-18 14:01:02"


## 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}}"
"00005458"	"COL3A1"	"collagen, type III, alpha 1"	"001"	"NM_000090.3"	""	"NP_000081.1"	""	""	""	"-117"	"5373"	"4401"	"189839099"	"189877472"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 14
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00169"	"EDS"	"Ehlers-Danlos syndrome (EDS)"	""	""	""	""	""	"00006"	"2013-08-01 11:03:44"	"00006"	"2021-12-10 21:51:32"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00638"	"EDSCV"	"Ehlers-Danlos syndrome, cardiac valvular form"	"AR"	"225320"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01301"	"EDSHMB"	"Ehlers-Danlos syndrome, hypermobility type (EDSHMB, EDS3)"	""	"130020"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-01-15 08:54:52"
"01302"	"EDSVASC"	"Ehlers-Danlos, vascular type syndrome (EDSVASC EDS4 EDSIV)"	"AD"	"130050"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"03381"	"cancer, gastric"	"cancer, gastric (Neoplasm of stomach)"	""	"613659"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2017-07-14 15:28:09"
"04193"	"TAAD"	"aneurysms, aortic, thoracic, dissections (TAAD)"	""	""	""	""	""	"00006"	"2015-02-14 21:35:57"	"00006"	"2016-03-20 12:15:43"
"04270"	"epilepsy"	"epilepsy"	""	""	""	""	""	"00006"	"2015-05-14 16:00:06"	"00006"	"2017-09-07 14:25:59"
"05166"	"SUD"	"death, sudden, unexplained (SUD)"	""	""	""	""	""	"00006"	"2016-05-19 16:34:23"	"00006"	"2018-09-11 12:14:13"
"05784"	"EDSCL1"	"Ehlers-Danlos, classic syndrome, type 1  (EDSCL1 EDS1)"	"AD"	"130000"	""	""	""	"00006"	"2020-07-09 19:45:04"	"00006"	"2021-12-10 21:51:32"
"05814"	"acrogeria"	"acrogeria"	""	"201200"	""	""	""	"03701"	"2020-08-19 11:07:09"	""	""
"05820"	"SCAD"	"artery dissection, coronary, spontaneous (SCAD)"	""	"122455"	""	""	""	"03701"	"2020-08-25 15:23:23"	"03701"	"2020-08-26 12:18:33"
"05821"	"IS1"	"scoliosis, idiopathic, susceptibility to, type 1 (IS-1)"	""	"181800"	""	""	""	"03701"	"2020-08-26 12:03:07"	"00006"	"2021-12-10 21:51:32"
"05953"	"PMGEDSV"	"polymicrogyria, with/without vascular-type EDS"	"AR"	"618343"	""	""	""	"00006"	"2021-07-21 14:04:34"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 6
"{{geneid}}"	"{{diseaseid}}"
"COL3A1"	"00169"
"COL3A1"	"01302"
"COL3A1"	"05814"
"COL3A1"	"05820"
"COL3A1"	"05821"
"COL3A1"	"05953"


## Individuals ## Do not remove or alter this header ##
## Count = 1449
"{{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}}"
"00050703"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00081291"	""	""	""	"1"	""	"01741"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00104018"	""	""	""	"1"	""	"00587"	"{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}"	"54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer"	""	""	""	""	"0"	""	""	""	"Vogelaar-529A"
"00163906"	""	""	""	"1"	""	"01807"	""	""	"F"	""	"(Germany)"	""	"0"	""	""	""	""
"00208627"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00288843"	""	""	""	"1"	""	"03600"	""	""	"M"	"no"	"China"	"24y"	"0"	""	""	"Asian"	"-"
"00289044"	""	""	""	"1"	""	"01741"	""	""	""	""	""	""	"0"	""	""	""	""
"00292504"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292505"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292506"	""	""	""	"4"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292507"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292508"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292509"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292510"	""	""	""	"144"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292511"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295178"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295295"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00296392"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00301083"	""	""	""	"1"	""	"01164"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00304762"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00315503"	""	""	""	"1"	""	"01602"	"{PMID:Neubauer 2021:33895855}"	""	"M"	""	"Switzerland"	"55y"	"0"	""	""	"Europe"	"SUDS085"
"00318196"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	""	""	""	""	""	"0"	""	""	""	""
"00318197"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318198"	""	""	""	"1"	""	"00085"	"{PMID:Sakai et al., 2011:22001912}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00318199"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	""	""	""	""	""	"0"	""	""	""	""
"00318200"	""	""	""	"1"	""	"00085"	"{PMID:Vandervore et al., 2017:28258187}"	"The proband\'s younger brother is also homozygous for this variant. The heterozygous parents are healthy.The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	"Chechnyan"	"Patient 1"
"00318201"	""	""	""	"1"	""	"00085"	"{PMID:Horn et al., 2017:28742248}"	"The patient\'s younger brother is also homozygous for the variant. Both parents were heterozygous carriers of the variant. These patients are distinct from those in  {PMID:Vandervore et al., 2017:28258187}"	""	""	""	""	"0"	""	""	""	"Patient 2"
"00318202"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00318203"	""	""	""	"1"	""	"03711"	""	"Hypermobility EDS / BJHS: EDS III Benign connective tissue phenotype with coronary artery dissections."	""	""	""	""	"0"	""	""	"white"	""
"00318204"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID:Legrand et al., 2019:30474650}."	""	""	""	""	"0"	""	""	""	""
"00318205"	""	""	""	"1"	""	"01233"	"{PMID:Overwater 2018:29907982}"	"The technique used was the custom NGS Gene panel."	""	""	"Netherlands"	""	"0"	""	""	""	"Pat9"
"00318206"	""	""	""	"1"	""	"01233"	""	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00318207"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 2001:11577371} {PMID:Pepin et al., 2014:24922459}"	"The patient was described by {PMID:Schwarze et al., 2001:11577371} as patient P2. The patient was subsequently presented as Family 1 by {PMID:Leistritz et al., 2011:21637106}."	""	""	""	""	"0"	""	""	""	""
"00318208"	""	""	""	"1"	""	"00085"	"{PMID:Plancke et al., 2009:19455184}"	"The patient is homozygous for the variant and neither parent shows any symptoms of EDS. The variant is described as being in exon 5, but is in exon 6, using the accepted conventional exon numbering scheme. This patient was subsequently described as Patient 3 by {PMID:Vandervore et al., 2017:28258187}."	""	""	""	""	"0"	""	""	""	""
"00318209"	""	""	""	"1"	""	"00085"	"Anderson et al., 1994 Matrix Biology 14, 392"	""	""	""	""	""	"0"	""	""	""	""
"00318210"	""	""	""	"1"	""	"00085"	"{PMID:Henneton et al, 2019:30919682}"	"Patient is a 33 year old female. This patient was subsequently described in {PMID:Frank et al., 2019:30999998} as patient 91."	""	""	""	""	"0"	""	""	""	"Patient 101"
"00318211"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID:Legrand et al., 2019:30474650}."	""	""	""	""	"0"	""	""	""	""
"00318212"	""	""	""	"1"	""	"00085"	"{PMID:Chan et al., 2008:18272325}"	"This is a non-pathogenic variant."	""	""	""	""	"0"	""	""	""	""
"00318213"	""	""	""	"1"	""	"00085"	"{PMID:Weerakkody et al., 2018:29543232}"	"The technique used was the custom exome panel."	""	""	""	""	"0"	""	""	""	""
"00318214"	""	""	""	"1"	""	"00085"	"{PMID:Naing et al., 2011:21219851}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318215"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 219 (30F) in {PMID:Henneton et al., 2019:30919682}. This patient was described as Patient 1 in {PMID:Frank et al., 2019:30999998} and was also described in {PMID:Legrand et al., 2019:30474650}."	""	""	""	""	"0"	""	""	""	""
"00318216"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318217"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318218"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318219"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318220"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318221"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318222"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318223"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318224"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	"P002"
"00318225"	""	""	""	"1"	""	"00085"	"{PMID:Mortani Barbosa et al., 2011:22065459}"	"The protein level variant description is incorrectly described as p.G16S."	""	""	""	""	"0"	""	""	""	"Patient 2"
"00318226"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID:Legrand et al., 2019:30474650}."	""	""	""	""	"0"	""	""	""	""
"00318227"	""	""	""	"1"	""	"03704"	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	"This patient was identified as Subject 00-1123 by {PMID:Kerwin et al., 2008:18043893}."	""	""	""	""	"0"	""	""	""	""
"00318228"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318229"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318230"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318231"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318232"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318233"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318234"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318235"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"affected sib"	""	""	""	""	"0"	""	""	""	""
"00318236"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318237"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318238"	""	""	""	"1"	""	"00736"	""	"This patient was subsequently described in {PMID:Legrand et al., 2019:30474650}."	""	""	""	""	"0"	""	""	""	""
"00318239"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318240"	""	""	""	"1"	""	"03704"	"{PMID:Smith et al., 1997:9036918} {PMID:Pepin et al., 2014:24922459}"	"This patient was identified as Sample 1 by {PMID:Smith et al., 1997:9036918} and was subsequently described by {PMID:Pepin et al., 2000:10706896}."	""	""	""	""	"0"	""	""	""	""
"00318241"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318242"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently as Index Patient 111 (37F) in {PMID:Henneton et al., 2019:30919682}. This patient was described as Patient 2 in {PMID:Frank et al., 2019:30999998} and was subsequently described in {PMID:Legrand et al., 2019:30474650}."	""	""	""	""	"0"	""	""	""	""
"00318243"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 17, Male, 51y, arterial event. His daughter, patient 18, AN_002818, female, 21y, arterial event, carries the same mutation"	""	""	""	""	"0"	""	""	""	""
"00318244"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"mosaic parent"	""	""	""	""	"0"	""	""	""	""
"00318245"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	"P007"
"00318246"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 2001:11577371} {PMID:Pepin et al., 2014:24922459}"	"This patient, described by {PMID:Schwarze et al., 2001:11577371} as P3, was subsequently presented as Family 2 by {PMID:Leistritz et al., 2011:21637106}."	""	""	""	""	"0"	""	""	""	""
"00318247"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318248"	""	""	""	"1"	""	"01233"	"{PMID:Overwater 2018:29907982}"	"The technique used was the custom NGS Gene panel."	"M"	""	"Netherlands"	""	"0"	""	""	""	"Pat10"
"00318249"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318250"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318251"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318252"	""	""	""	"1"	""	"00085"	"{PMID:Henrard et al., 2019:30623691}"	"The patient\'s elder sister (III-6) also harbours the same sequence variant.The variant in this patient lies in exon 7, rather than in exon 6 as reported by the authors."	""	""	""	""	"0"	""	""	""	"Patient III-8"
"00318253"	""	""	""	"1"	""	"00736"	"{PMID:Ferré et al., 2012:22492385}"	"This patient is related to Patient 4 in {PMID:Ferré et al., 2012:22492385}, who carries the same variant. This patient was subsequently described by {PMID:Frank et al., 2015:25758994}. This patient was subsequently described as Index Patient 303 (21M) in {PMID:Henneton et al., 2019:30919682}, with two other relatives who carried the same variant, and also described in {PMID:Legrand et al., 2019:30474650}. They were also described as Patient 4 in {PMID:Frank et al., 2019:30999998}."	""	""	""	""	"0"	""	""	""	"Patient 3"
"00318254"	""	""	""	"1"	""	"00736"	"{PMID:Ferré et al., 2012:22492385}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019} and also described as Patient 3 in {PMID30999998:Frank et al., 2019}"	""	""	""	""	"0"	""	""	""	"Patient 4"
"00318255"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318256"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318257"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"Patient is identified as 91-364 by {PMID9399899:Schwarze et al., 1997} and is Sample 12 in {PMID9036918:Smith et al., 1997}."	""	""	""	""	"0"	""	""	""	""
"00318258"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318259"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318260"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318261"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 340 (14M) in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 92 in {PMID30999998:Frank et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318262"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318263"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318264"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318265"	""	""	""	"1"	""	"00085"	"{PMID:Lloyd et al., 1993:8320698}"	"The variant causes skipping of exon 7."	""	""	""	""	"0"	""	""	""	""
"00318266"	""	""	""	"1"	""	"00085"	"{PMID:Pope et al., 1996:8881656}"	""	""	""	""	""	"0"	""	""	""	"Patient 24"
"00318267"	""	""	""	"1"	""	"03704"	"{PMID:Milewicz et al., 1993:8317500} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318268"	""	""	""	"1"	""	"00085"	"{PMID:Sanchez-Baya et al., 2019:31394546}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00318269"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318270"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00318271"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318272"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318273"	""	""	""	"1"	""	"03704"	"{PMID:Smith et al., 1997:9036918} {PMID:Pepin et al., 2014:24922459}"	"This patient (Sample 2) was also included in the study by {PMID:Pepin et al., 2000:10706896} and has an affected relative (Sample 3) described also in {PMID9036918:Smith et al., 1997}."	""	""	""	""	"0"	""	""	""	""
"00318274"	""	""	""	"1"	""	"03704"	"{PMID:Collins et al., 1999:9841712} {PMID:Pepin et al., 2014:24922459}"	"This patient was also included in the study by {PMID:Pepin et al., 2000:10706896}."	""	""	""	""	"0"	""	""	""	""
"00318275"	""	""	""	"1"	""	"00085"	"{PMID:Giunta and Steinmann, 2000:10923041}"	"The patient\'s variant was originally described as c.713G>A but that mixes current nomeclature with old cDNA coordinates.The technique used was ribonuclease T1 analysis (RNaseT1)."	""	""	""	""	"0"	""	""	""	"P1"
"00318276"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318277"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318278"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	"This patient was subsequently described as Index Case Patient 107 (29F)in {PMID30919682:Henneton et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00318279"	""	""	""	"1"	""	"03705"	""	""	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00318280"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only mother tested nl"	""	""	""	""	"0"	""	""	""	""
"00318281"	""	""	""	"1"	""	"00085"	"{PMID:Giunta and Steinmann, 2000:10923041}"	"The patient\'s variant was originally described as c.731G>A but that mixes current nomeclature with old cDNA coordinates.The technique used was ribonuclease T1 analysis (RNaseT1)."	""	""	""	""	"0"	""	""	""	"P2"
"00318282"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318283"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318284"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"affected sib"	""	""	""	""	"0"	""	""	""	""
"00318285"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"This patient, described as 92-075 by {PMID9399899:Schwarze et al., 1997}, was previously described as Sample 13 by {PMID9036918:Smith et al., 1997} and was also included in the study by {PMID:Pepin et al., 2000:10706896}."	""	""	""	""	"0"	""	""	""	""
"00318286"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"This was Patient 94-597 in the study by {PMID9399899:Schwarze et al., 1997}."	""	""	""	""	"0"	""	""	""	""
"00318287"	""	""	""	"1"	""	"00085"	"{PMID:Pinto et al., 2000:10928898}"	""	""	""	""	""	"0"	""	""	""	""
"00318288"	""	""	""	"1"	""	"03704"	"{PMID:Chuman et al., 2002:12131463} {PMID:Pepin et al., 2014:24922459}"	"This patient, described by {PMID:Chuman et al., 2002:12131463} as Case 1, was previously described by {PMID3819843:Lach et al., 1987}."	""	""	""	""	"0"	""	""	""	""
"00318289"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 13, Male, 27y, arterial event. The patient\'s sister, Patient 14, AN_002814, also harbours the same variant."	""	""	""	""	"0"	""	""	""	""
"00318290"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318291"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	"This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 93."	""	""	""	""	"0"	""	""	""	""
"00318292"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318293"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318294"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00318295"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318296"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318297"	""	""	""	"1"	""	"00736"	"{PMID:Ferré et al., 2012:22492385}"	"This individual is identified as Patient 6 by {PMID22492385:Ferré et al., 2012} and was subsequently described by {PMID25758994:Frank et al., 2015}. This patient was subsequently described as Index Patient 103, with a relative (104) carrying the same variant in {PMID30919682:Henneton et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318298"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 1991:1998337}"	"This patient was previously described by {PMID2834369:Superti-Furga et al., 1988}."	""	""	""	""	"0"	""	""	""	""
"00318299"	""	""	""	"1"	""	"03704"	"{PMID:Rossi et al., 1998:9546243} {PMID:Pepin et al., 2014:24922459}"	"This patient was also included in the study by {PMID:Pepin et al., 2000:10706896}."	""	""	""	""	"0"	""	""	""	""
"00318300"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318301"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318302"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318303"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	"P004"
"00318304"	""	""	""	"1"	""	"00736"	"{PMID:Ferré et al., 2012:22492385}"	"This individual is identified as Patient 1 by {PMID:Ferré et al., 2012:22492385} and was subsequently described by {PMID:Frank et al., 2015:25758994}. This same patient was described as Index Patient 3 (39F) in {PMID30919682:Henneton et al., 2019:30919682}, with another relative who carries the same variant. This patient was described as Patient 8 in {PMID:Frank et al., 2019:30999998} and was also described in {PMID:Legrand et al., 2019:30474650}."	""	""	""	""	"0"	""	""	""	""
"00318305"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318306"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318307"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318308"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 23, Female, 52y, both arterial and bowel events"	""	""	""	""	"0"	""	""	""	""
"00318309"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318310"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00318311"	""	""	""	"1"	""	"00085"	"{PMID:Drera et al., 2011:22019127}"	""	""	""	""	""	"0"	""	""	""	"P.1"
"00318312"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318313"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318314"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318315"	""	""	""	"1"	""	"03704"	"{PMID:Smith et al., 1997:9036918} {PMID:Pepin et al., 2014:24922459}"	"This patient, described as Sample 4 by {PMID9036918:Smith et al., 1997}, was also included in the study by {PMID:Pepin et al., 2000:10706896}."	""	""	""	""	"0"	""	""	""	""
"00318316"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318317"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"This patient, described as 96-302 by {PMID9399899:Schwarze et al., 1997}, was also included in the study by {PMID:Pepin et al., 2000:10706896}."	""	""	""	""	"0"	""	""	""	""
"00318318"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318319"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"This patient, described as 94-341 by {PMID9399899:Schwarze et al., 1997}, was also included in the study by {PMID:Pepin et al., 2000:10706896}."	""	""	""	""	"0"	""	""	""	""
"00318320"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"This patient, described as 86-053 by {PMID9399899:Schwarze et al., 1997}, was also included in the study by {PMID:Pepin et al., 2000:10706896}."	""	""	""	""	"0"	""	""	""	""
"00318321"	""	""	""	"1"	""	"00085"	"{PMID:Giunta and Steinmann, 2000:10923041}"	"The patient\'s variant was originally described as c.793-2A>G but that mixes current nomeclature with old cDNA coordinates."	""	""	""	""	"0"	""	""	""	"P3"
"00318322"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318323"	""	""	""	"1"	""	"00085"	"{PMID:Henneton et al., 2019:30919682}"	"This patient has a male relative who also carries the same variant."	""	""	""	""	"0"	""	""	""	"Patient 34"
"00318324"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318325"	""	""	""	"1"	""	"00085"	"{PMID:Drera et al., 2011:22019127}"	"This patient is also reported as Patient 1 in  {PMID29346445:Chiarelli et al., 2018}"	""	""	""	""	"0"	""	""	""	"P.2"
"00318326"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only father tested nl"	""	""	""	""	"0"	""	""	""	""
"00318327"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318328"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318329"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318330"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only mother tested nl"	""	""	""	""	"0"	""	""	""	""
"00318331"	""	""	""	"1"	""	"00085"	"{PMID:Kaadan et al., 2018:29650765}"	""	""	""	""	""	"0"	""	""	""	""
"00318332"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318333"	""	""	""	"1"	""	"00085"	"{PMID:Proost et al., 2015:25907466}"	"The patient was not suspected of having vascular EDS.The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00318334"	""	""	""	"1"	""	"00085"	"{PMID:Campens et al., 2015:25644172}"	"The patient had a non-syndromic form of H-TAD."	""	""	""	""	"0"	""	""	""	""
"00318335"	""	""	""	"1"	""	"00736"	""	""	""	""	""	""	"0"	""	""	""	""
"00318336"	""	""	""	"1"	""	"00085"	"{PMID:Ghali et al., 2019:30837697}"	""	""	""	"England"	""	"0"	""	""	"English"	"Family 3"
"00318337"	""	""	""	"1"	""	"00085"	"{PMID:Ghali et al., 2019:30837697}"	""	""	""	""	""	"0"	""	""	""	"Family 7"
"00318338"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318339"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318340"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318341"	""	""	""	"1"	""	"00085"	"{PMID:Geake et al., 2014:24591672}"	""	""	""	""	""	"0"	""	""	"white"	""
"00318342"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318343"	""	""	""	"1"	""	"00085"	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	""	""	"0"	""	""	""	"Patient 8"
"00318344"	""	""	""	"1"	""	"03705"	""	"For MLPA analysis the P155-D2 probemix from MRC Holland was used. The detected deletion comprises at least exons 11-14, but might also include exons 10, 15 and 17, for which no probes are included in the P155 kit."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00318345"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00318346"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318347"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318348"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318349"	""	""	""	"1"	""	"03705"	""	"Daughter of affected individual AN_002592."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00318350"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	"This patient was also presented as Subject 98-0445 by {PMID:Kerwin et al., 2008:18043893}."	""	""	""	""	"0"	""	""	""	""
"00318351"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318352"	""	""	""	"1"	""	"00085"	"{PMID:Ohyama et al., 2011:30532829}"	"The paper cited the substituted amino acid using only legacy numbering."	""	""	""	""	"0"	""	""	""	""
"00318353"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318354"	""	""	""	"1"	""	"00085"	"{PMID:Müller et al., 2012:22038052}"	"This patient\'s variant was used as the target for allele-specific siRNA knockdown."	""	""	""	""	"0"	""	""	""	""
"00318355"	""	""	""	"1"	""	"00736"	"{PMID:Ferré et al., 2012:22492385}"	"This individual is identified as Patient 9 by {PMID22492385:Ferré et al., 2012}, is related to Patient 10 in {PMID22492385:Ferré et al., 2012} and subsequently described by {PMID25758994:Frank et al., 2015}. This patient was subsequently described as Patient 117 in  {PMID30919682:Henneton et al., 2019}, with another relative carrying the same variant, and Patient 11 in {PMID30999998:Frank et al., 2019} This patient was also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318356"	""	""	""	"1"	""	"00736"	"{PMID:Ferré et al., 2012:22492385}"	"This patient was subsequently described as Patient 118 in  {PMID30919682:Henneton et al., 2019}  and as Patient 12 in  {PMID30999998:Frank et al., 2019}. This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	"Patient 10"
"00318357"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 25, Male, 23y, arterial event"	""	""	""	""	"0"	""	""	""	""
"00318358"	""	""	""	"1"	""	"03704"	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	"This patient was identified as Subject 00-0145 by {PMID:Kerwin et al., 2008:18043893}."	""	""	""	""	"0"	""	""	""	""
"00318359"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318360"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318361"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318362"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318363"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318364"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318365"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318366"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318367"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318368"	""	""	""	"1"	""	"00085"	"{PMID:Pepin et al., 2000:10706896}"	""	""	""	""	""	"0"	""	""	""	""
"00318369"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318370"	""	""	""	"1"	""	"03704"	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	"Thsi patient was described as Family 3 by {PMID21637106:Leistritz et al., 2011}."	""	""	""	""	"0"	""	""	""	""
"00318371"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 15, Female, 41y, arterial event; Her sister, patient 16, AN_002816, female, 45y, no arterial or bowel event, but carries the same mutation."	""	""	""	""	"0"	""	""	""	""
"00318372"	""	""	""	"1"	""	"00085"	"{PMID:Renner et al., 2019:30675029}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	"Patient 146"
"00318373"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 2008:18389341}"	""	""	""	""	""	"0"	""	""	""	""
"00318374"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318375"	""	""	""	"1"	""	"00085"	"{PMID[30919682:Henneton et al., 2019}"	"Patient is a 20 year old male."	""	""	""	""	"0"	""	""	""	"Patient 427"
"00318376"	""	""	""	"1"	""	"00085"	"{PMID:Giunta and Steinmann, 2000:10923041}"	"The patient\'s variant was originally described as c.892G>A but that mixes current nomenclature with old cDNA coordinates.The technique used was ribonuclease T1 analysis (RNaseT1)."	""	""	""	""	"0"	""	""	""	"P4"
"00318377"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318378"	""	""	""	"1"	""	"03704"	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	"The variant in this patient, described as Family 4 by {PMID21637106:Leistritz et al., 2011}, results in the use of a cryptic splice site 17 nt upstream in exon 11 and creation of a premature termination codon in exon 12."	""	""	""	""	"0"	""	""	""	""
"00318379"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00318380"	""	""	""	"1"	""	"00085"	"{PMID:Chen et al., 2019:31819605}"	"The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	""
"00318381"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318382"	""	""	""	"1"	""	"00085"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318383"	""	""	""	"1"	""	"00085"	"{PMID:Lipinski et al., 2009:19248182}"	""	""	""	""	""	"0"	""	""	""	""
"00318384"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318385"	""	""	""	"1"	""	"00085"	"{PMID:Renner et al., 2019:30675029}"	"Patient had a family history of Heritable Connective Tissue Disorders and Marfan Syndrome. The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	"Patient 151"
"00318386"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318387"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 495 (53F) in {PMID30919682:Henneton et al., 2019}, with four other relatives carrying the same variant. This patient was described as Patient 132 in {PMID30999998:Frank et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318388"	""	""	""	"1"	""	"00085"	"{PMID:Campens et al., 2015:25644172}"	"This patient has a syndromic form of H-TAD with features of vascular EDS."	""	""	""	""	"0"	""	""	""	""
"00318389"	""	""	""	"1"	""	"00085"	"{PMID:Pickup and Pollanen, 2010:21086191}"	"The patient died suddenly from traumatic subarachnoid haemorrhage with intracranial vertebral artery rupture."	""	""	""	""	"0"	""	""	""	""
"00318390"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	""	""	""	""	""	"0"	""	""	""	""
"00318391"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	""	""	""	""	""	"0"	""	""	""	""
"00318392"	""	""	""	"1"	""	"01233"	"{PMID:Overwater 2018:29907982}"	"The technique used was the custom NGS Gene panel."	""	""	"Netherlands"	""	"0"	""	""	""	"Pat70"
"00318393"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Case Patient 420 in {PMID30919682:Henneton et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}. They were also described as Patient 13 in {PMID30999998:Frank et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318394"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Case Patient 424 in {PMID30919682:Henneton et al., 2019}, with two other relatives carrying the same variant, and also described in {PMID30474650:Legrand et al., 2019}. They were also described as Patient 14 in {PMID30999998:Frank et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318395"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318396"	""	""	""	"1"	""	"00085"	"{PMID:Drera et al., 2011:22019127}"	""	""	""	""	""	"0"	""	""	""	"P.3"
"00318397"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 224 (37F) in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 16 in {PMID30999998:Frank et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318398"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318399"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318400"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318401"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"affected sib"	""	""	""	""	"0"	""	""	""	""
"00318402"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318403"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318404"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 57 (25F) in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 17 in {PMID30999998:Frank et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318405"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318406"	""	""	""	"1"	""	"00085"	"{PMID:Kroes et al., 2003:12694234}"	"The mutation was originally incorrectly described as 388G>T and an erratum was published by the authors. The patient also has a son who harbours the same mutation."	""	""	""	""	"0"	""	""	""	"Patient 1"
"00318407"	""	""	""	"1"	""	"00085"	"{PMID:Naing et al., 2011:21219851}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318408"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	"P001"
"00318409"	""	""	""	"1"	""	"00085"	"{PMID:Giunta and Steinmann, 2000:10923041}"	"The patient\'s variant was originally described as c.999+2T>A but that mixes current nomeclature with old cDNA coordinates."	""	""	""	""	"0"	""	""	""	"P5"
"00318410"	""	""	""	"1"	""	"00085"	"{PMID:Pope et al., 1996:8881656}"	""	""	""	""	""	"0"	""	""	""	"Patient 23"
"00318411"	""	""	""	"1"	""	"00736"	"{PMID:Ferré et al., 2012:22492385}"	"This patient was subsequently described by {PMID25758994:Frank et al., 2015}. This patient was subsequently described as Index Case Patient 298 in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 96 in {PMID30999998:Frank et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	"Patient 15"
"00318412"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318413"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318414"	""	""	""	"1"	""	"00085"	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	""	""	"0"	""	""	""	"Patient 67"
"00318415"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318416"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318417"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318418"	""	""	""	"1"	""	"00085"	"{PMID:Tromp et al., 1993:8514866}"	"The patient is described as having a dissecting aortic aneurysm resulting from generalised fibromuscular dysplasia. The patient, who had three unaffected sibs all harbouring the same mutation, has been previously described by {PMID:Gatalica et al., 1992:1568754}. However, the diagnosis has been challenged by {PMID:Heggtveit, 1992:1298262}."	""	""	""	""	"0"	""	""	""	""
"00318419"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"This pateint is almost certainly related to the pateint described as JIMM407 described by {PMID8514866:Tromp et al., 1993}."	""	""	""	""	"0"	""	""	""	""
"00318420"	""	""	""	"1"	""	"00085"	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318421"	""	""	""	"1"	""	"00085"	"{PMID:Moon et al., 2011:21831911}"	"The sequence variant details were provided by the authors."	""	""	""	""	"0"	""	""	""	""
"00318422"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318423"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318424"	""	""	""	"1"	""	"00085"	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	""	""	"0"	""	""	""	"Patient 178"
"00318425"	""	""	""	"1"	""	"00085"	"{PMID:Henneton et al., 2019:30919682}"	"This patient was subsequently described as Patient 19 in  {PMID30999998:Frank et al., 2019} and was also described in {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	"Patient 99"
"00318426"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318427"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"This patient was previously described as 93-104 by Goldstein et al., 1994 Matrix Biol 14:392-393 (abstract) and also included in the study by {PMID:Pepin et al., 2000:10706896}."	""	""	""	""	"0"	""	""	""	""
"00318428"	""	""	""	"1"	""	"00736"	"{PMID:Ferré et al., 2012:22492385}"	"This individual is identified as Patient 12 by {PMID22492385:Ferré et al., 2012} and was subsequently described by {PMID25758994:Frank et al., 2015}. This patient was subsequently described as Index Patient 27 in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 98 in {PMID30999998:Frank et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318429"	""	""	""	"1"	""	"00085"	"{PMID:Wendorff et al., 2013:23688910}"	"This patient had venous manifestations, but with no involvement of arterial vessels at presentation."	""	""	""	""	"0"	""	""	""	""
"00318430"	""	""	""	"1"	""	"00736"	""	""	""	""	""	""	"0"	""	""	""	""
"00318431"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318432"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Case Patient 90 (19M) in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 97 in {PMID30999998:Frank et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318433"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318434"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00318435"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318436"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"This patient, described as patient 93-272 by {PMID9399899:Schwarze et al., 1997}, was also described as Sample 14 by {PMID9036918:Smith et al., 1997} and was also included in the study by {PMID:Pepin et al., 2000:10706896}."	""	""	""	""	"0"	""	""	""	""
"00318437"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only mother tested nl"	""	""	""	""	"0"	""	""	""	""
"00318438"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Case Patient 141 in {PMID30919682:Henneton et al., 2019}. They had a 26-year old female relative, Patient 142, who also carried the variant c.951+4A>G"	""	""	""	""	"0"	""	""	""	""
"00318439"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318440"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318441"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318442"	""	""	""	"1"	""	"00085"	"{PMID:Koitabashi et al., 2018:30158381}"	"The patient and her younger brother of different paternity both have this sequence variant. However, the variant was not found in either the mother or older brother, both who had no symptoms. Germline mosaicism is suggested. The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00318443"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318444"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318445"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318446"	""	""	""	"1"	""	"00085"	"{PMID:Drera et al., 2011:22019127}"	"The variant leads to the skipping of exon 14.This patient is also reported as Patient 2 in  {PMID29346445:Chiarelli et al., 2018}"	""	""	""	""	"0"	""	""	""	"P.4"
"00318447"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was described as Patient 99 in {PMID30999998:Frank et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318448"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318449"	""	""	""	"1"	""	"00736"	"{PMID:Ferré et al., 2012:22492385}"	"This patient was subsequently described by {PMID25758994:Frank et al., 2015}. This patient was subsequently described as Index Case Patient 321 in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 101 in {PMID30999998:Frank et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	"Patient 11"
"00318450"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 8, Female, 11y; Her father, patient 9, AN_002809 and aunt, patient 10, AN_002810, are both mutation carriers."	""	""	""	""	"0"	""	""	""	""
"00318451"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318452"	""	""	""	"1"	""	"00085"	"{PMID:Makrygiannis et al., 2015:26497932}"	"The mutant allele is maternally inherited but the mother is assymptomatic.The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00318453"	""	""	""	"1"	""	"03704"	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	"This patient was descibed as Family 5 by {PMID21637106:Leistritz et al., 2011}."	""	""	""	""	"0"	""	""	""	""
"00318454"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318455"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318456"	""	""	""	"1"	""	"00085"	"{PMID:Martin et al., 2006:17053184}"	"Index Patient I-1 has a cousin (I-2) on the maternal side who also carries the variant. Both their mothers, and 2 nonaffected siblings of I-2 also carry the variant. The DNA-level description was deduced from the legacy protein G157S description in the paper."	""	""	""	""	"0"	""	""	""	"Family I"
"00318457"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	"P008"
"00318458"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	"P010"
"00318459"	""	""	""	"1"	""	"00085"	"{PMID:Rebelo et al., 2012:22713205}"	"The protein-level variant description is incorrectly reported as p.Gly157Ser."	""	""	"Portugal"	""	"0"	""	""	"Portuguese"	""
"00318460"	""	""	""	"1"	""	"00085"	"{PMID:Ellis et al., 2012:23234825}"	"The patient presented with recurrent bilateral carotid artery dissections."	""	""	""	""	"0"	""	""	""	""
"00318461"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318462"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318463"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318464"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318465"	""	""	""	"1"	""	"00085"	"{PMID:Grond-Ginsbach et al., 2017:31008308}"	"The patient has a cousin who also carries the variant and presents with cervical artery dissections. Both mothers of the patients were asymptomatic carriers. The DNA base change was deduced from the Gly324Ser protein change in the paper. The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	""
"00318466"	""	""	""	"1"	""	"01233"	"{PMID:Overwater 2018:29907982}"	"de novoThe technique used was the custom NGS Gene panel."	"F"	""	"Netherlands"	""	"0"	""	""	""	"Pat11"
"00318467"	""	""	""	"1"	""	"00085"	"{PMID:Busch et al., 2016:27488172}"	"The patient is a 43 year-old male. A younger male relative also carries the same variant and vEDS phenotype."	""	""	""	""	"0"	""	""	""	"Patient 5"
"00318468"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only mother tested nl  affected sib"	""	""	""	""	"0"	""	""	""	""
"00318469"	""	""	""	"1"	""	"00085"	"{PMID:Haller et al., 2015:26333736}"	"The variant in this patient is described as being of unknown significance.The technique used was the custom exome panel."	""	""	""	""	"0"	""	""	""	""
"00318470"	""	""	""	"1"	""	"00085"	"{PMID:Giunta and Steinmann, 2000:10923041}"	"The patient\'s variant was originally described as c.1082G>A but that mixes current nomeclature with old cDNA coordinates.The technique used was ribonuclease T1 analysis (RNaseT1)."	""	""	""	""	"0"	""	""	""	"P6"
"00318471"	""	""	""	"1"	""	"00085"	"{PMID:Baas et al., 2017:28102592}"	"The patient had previously been pregnant three times and delivered vaginally in all cases. First delivery was complicated by heavy bleeding, and the last child was born at 34 weeks of pregnancy. The patient\'s father (II:3), cousin (III:5) and sister (III:2) all also carried the c.980G>A sequence variant. The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	"III:3"
"00318472"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 162 (22M) in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 102 in {PMID30999998:Frank et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318473"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318474"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only mother tested nl"	""	""	""	""	"0"	""	""	""	""
"00318475"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Case Patient 234 in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 103 in {PMID30999998:Frank et al., 2019} and is also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318476"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318477"	""	""	""	"1"	""	"00085"	"{PMID:Henneton et al., 2019:30919682}"	"This patient was subsequently described as Patient 137 in  {PMID30999998:Frank et al., 2019} and was also described in {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	"Patient 93"
"00318478"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318479"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"affected sib"	""	""	""	""	"0"	""	""	""	""
"00318480"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only mother tested"	""	""	""	""	"0"	""	""	""	""
"00318481"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	"This patient was also presented as Subject 97-0543 by {PMID:Kerwin et al., 2008:18043893}."	""	""	""	""	"0"	""	""	""	""
"00318482"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 24, Female, 36y, arterial event"	""	""	""	""	"0"	""	""	""	""
"00318483"	""	""	""	"1"	""	"00085"	"{PMID:Kuivaniemi et al., 1990:2365710}"	"The technique used was S1 nuclease."	""	""	""	""	"0"	""	""	""	"Proband I"
"00318484"	""	""	""	"1"	""	"00085"	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318485"	""	""	""	"1"	""	"00085"	"{PMID:Busch et al., 2016:27488172}"	"The patient also had three other female relatives who carried the variant and had a vEDS phenotype."	""	""	""	""	"0"	""	""	""	"Patient 11"
"00318486"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00318487"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318488"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318489"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318490"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318491"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318492"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318493"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Case Patient 244 in {PMID30919682:Henneton et al., 2019}, and has a relative carrying the same variant. They were also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318494"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 39, Female, 49y, arterial event"	""	""	""	""	"0"	""	""	""	""
"00318495"	""	""	""	"1"	""	"03704"	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	"This patient was identified as Subject 02-0376 by {PMID:Kerwin et al., 2008:18043893}, but the variant was incorrectly described as c.1105_1107 del GGA."	""	""	""	""	"0"	""	""	""	""
"00318496"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318497"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318498"	""	""	""	"1"	""	"00085"	"{PMID:Wolford et al., 2019:31211624}"	"The variant was described in the paper with chromosome position, reference allele and alternate allele, using human genome build GRCh37/hg19.The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	""
"00318499"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318500"	""	""	""	"1"	""	"00085"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"This patient, identified as 90-209 by {PMID9399899:Schwarze et al., 1997}, was also included in the study by {PMID:Pepin et al., 2000:10706896}."	""	""	""	""	"0"	""	""	""	""
"00318501"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318502"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318503"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 33, Female, 9y, No event"	""	""	""	""	"0"	""	""	""	""
"00318504"	""	""	""	"1"	""	"00085"	"{PMID:Chiodo et al., 1995:7487954}"	""	""	""	""	""	"0"	""	""	""	""
"00318505"	""	""	""	"1"	""	"00085"	"{PMID:Giunta and Steinmann, 2000:10923041}"	"The patient\'s variant was originally described using old cDNA coordinates (and the nomencalture is also wrong)."	""	""	""	""	"0"	""	""	""	"P7"
"00318506"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318507"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00318508"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"Vascular EDS facies (prominent eyes, small ear lobes) with hyper-extensible skin and extensive hypermobilility. haemothorax.      - [original study ID  420]."	""	""	"India"	""	"0"	""	""	"Indian"	""
"00318509"	""	""	""	"1"	""	"00085"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"This pateint was identified as 93-200 by {PMID9399899:Schwarze et al., 1997}, as Sample 15 by {PMID9036918:Smith et al., 1997}, and was included in the study by {PMID:Pepin et al., 2000:10706896}.The variant results in skipping of exon 18."	""	""	""	""	"0"	""	""	""	""
"00318510"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"This patient was identified as patient 91-589 by {PMID9399899:Schwarze et al., 1997} and was included in the study by {PMID:Pepin et al., 2000:10706896}. The deletion/insertion causes skipping of exon 18."	""	""	""	""	"0"	""	""	""	""
"00318511"	""	""	""	"1"	""	"00085"	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318512"	""	""	""	"1"	""	"00085"	"{PMID:Watanabe et al., 2007:17251678}"	"The sister of this patient also harbours the same variant and she is described by {PMID:Ohkuchi et al., 2009:19751346}."	""	""	""	""	"0"	""	""	""	""
"00318513"	""	""	""	"1"	""	"00736"	""	""	""	""	""	""	"0"	""	""	""	""
"00318514"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	""	""	""	""	""	"0"	""	""	""	""
"00318515"	""	""	""	"1"	""	"00085"	"{PMID:Henneton et al., 2019:30919682}"	"This patient was subsequently described as Patient 20 in {PMID30999998:Frank et al., 2019} and was also described in {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	"Patient 85"
"00318516"	""	""	""	"1"	""	"00085"	"{PMID:Weerakkody et al., 2018:29543232}"	"The technique used was the custom exome panel."	""	""	""	""	"0"	""	""	""	""
"00318517"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 21. This patient was subsequently described as Index Case Patient 127 in {PMID30919682:Henneton et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318518"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318519"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 19 in {PMID30919682:Henneton et al., 2019}. This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 104 and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318520"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318521"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318522"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318523"	""	""	""	"1"	""	"00085"	"{PMID:Henneton et al., 2019:30919682}"	"This patient was subsequently described as Patient 105 in  {PMID30999998:Frank et al., 2019} and was also described in {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	"Patient 36"
"00318524"	""	""	""	"1"	""	"00085"	"{PMID:Renner et al., 2019:30675029}"	"Patient had no family history of heritable connective diseases but did have another variant of unknown significance in the MYH11 gene. The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	"Patient 64"
"00318525"	""	""	""	"1"	""	"00085"	"{PMID:Weerakkody et al., 2018:29543232}"	"The technique used was the custom exome panel."	""	""	""	""	"0"	""	""	""	""
"00318526"	""	""	""	"1"	""	"03702"	""	""	""	""	""	""	"0"	""	""	""	""
"00318527"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318528"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318529"	""	""	""	"1"	""	"00736"	"{PMID:Ferré et al., 2012:22492385}"	"This individual is identified as Patient 5 by {PMID22492385:Ferré et al., 2012} and was subsequently described by {PMID25758994:Frank et al., 2015}. This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 22 and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318530"	""	""	""	"1"	""	"00085"	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	""	""	"0"	""	""	""	"Patient 26"
"00318531"	""	""	""	"1"	""	"00085"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318532"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00318533"	""	""	""	"1"	""	"00085"	"{PMID:Chan et al., 2008:18272325}"	"This is a non-pathogenic variant."	""	""	""	""	"0"	""	""	""	""
"00318534"	""	""	""	"1"	""	"00085"	"{PMID:Pickup and Pollanen, 2010:21086191}"	"The patient had acute subarachnoid haemorrhage and mesenteric artery dissection."	""	""	""	""	"0"	""	""	""	""
"00318535"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318536"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318537"	""	""	""	"1"	""	"00085"	"{PMID:Wang et al., 2018:30115950}"	"The patient was diagnosed with intracranial vertebral-basilar artery dissection (IVAD). The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	""
"00318538"	""	""	""	"1"	""	"00085"	"{PMID:Busch et al., 2016:27488172}"	"The patient was a female aged 25 years."	""	""	""	""	"0"	""	""	""	"Patient 21"
"00318539"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318540"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318541"	""	""	""	"1"	""	"00085"	"{PMID:Horn et al., 2017:28742248}"	"Patient 1 was compound heterozygous for biallelic sequence variants c.1282C>T and c.2057delC showing developmental delay. Healthy parents who each carried one variant were unaffected. The patient\'s brother also carried c.1282C>T without developmental delay."	""	""	""	""	"0"	""	""	""	"Patient 1"
"00318542"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00318543"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	"The variant results in skipping of exon 20."	""	""	""	""	"0"	""	""	""	""
"00318544"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 106 and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318545"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 188 in {PMID30919682:Henneton et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318546"	""	""	""	"1"	""	"00085"	"{PMID:Callaghan et al., 2019:31833208}"	"The patient\'s parents tested negative indicating the variant had arisen de novo in him. The patient and his two half-sibling children were affected by amniotic band sequence (ABS), and the half-siblings also inherited the COL3A1 variant. The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00318547"	""	""	""	"1"	""	"00085"	"{PMID:Wu et al., 2018:30025171}"	"The patient also has periodontal EDS, with a mutation in the C1R gene. The patient\'s mother and maternal uncle both have the periodontal EDS mutation, but not the vEDS mutation. The sequence variant is in exon 20, not exon 19 as was reported. The technique used was whole exome sequencing."	""	""	"China"	""	"0"	""	""	"Chinese"	"IV-I"
"00318548"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318549"	""	""	""	"1"	""	"00085"	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318550"	""	""	""	"1"	""	"00736"	"{PMID:Ferré et al., 2012:22492385}"	"This patient was subsequently described by {PMID25758994:Frank et al., 2015} and as Index Patient 279 in {PMID30919682:Henneton et al., 2019}. This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 23 and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	"Patient 17"
"00318551"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318552"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318553"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318554"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318555"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only father tested nl"	""	""	""	""	"0"	""	""	""	""
"00318556"	""	""	""	"1"	""	"00085"	"{PMID:Hicks et al., 2018:29510914}"	"Patient is described as 39M in {PMID29510914:Hicks et al., 2018} with no family history of aortic or arterial aneurysms or dissections and sudden death."	""	""	""	""	"0"	""	""	""	""
"00318557"	""	""	""	"1"	""	"00085"	"{PMID:Kontussaari et al., 1990:2349939}"	"This patient is almost certainly the patient that is also described as Proband II in {PMID2365710:Kuivaniemi et al., 1990}."	""	""	""	""	"0"	""	""	""	""
"00318558"	""	""	""	"1"	""	"00085"	"Goldstein et al., 1994 Matrix Biol 14:392-393 {PMID:Pepin et al., 2014:24922459}"	"Use of cryptic donor site at c.1347+25 resulting in an in-frame amino acid insertion: p.Arg449_Gly450insValSerPheThrAlaThrAspLeu. There are also three additional aberrant splice products."	""	""	""	""	"0"	""	""	""	""
"00318559"	""	""	""	"1"	""	"00085"	"{PMID:Anderson et al., 1997:9143932}"	"The technique used was S1 nuclease."	""	""	""	""	"0"	""	""	""	""
"00318560"	""	""	""	"1"	""	"00085"	"{PMID:Watanabe et al., 2007:17251678}"	""	""	""	""	""	"0"	""	""	""	""
"00318561"	""	""	""	"1"	""	"00085"	"{PMID:Drera et al., 2011:22019127}"	"This variant leads to a complex outcome in addition to in-frame exon skipping. This patient is also described as P2 in  {PMID27306637:Cazzato et al., 2016}"	""	""	""	""	"0"	""	""	""	"P.5"
"00318562"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 1 in {PMID30919682:Henneton et al., 2019}, with a relative carrying the same variant. This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 107 and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318563"	""	""	""	"1"	""	"03704"	"Goldstein et al., 1994 Matrix Biol 14:392-393 {PMID:Pepin et al., 2014:24922459}"	"Use of cryptic donor site at c.1347+25 resulting in an in-frame amino acid insertion: p.Arg449_Gly450insValSerPheThrAlaThrAspLeu. There are also three additional aberrant splice products."	""	""	""	""	"0"	""	""	""	""
"00318564"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318565"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318566"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318567"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318568"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318569"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318570"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This is a female patient who was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318571"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This is a male patient. This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 109, and in {PMID30919682:Henneton et al., 2019} as patient 390, with another relative carrying the same variant. This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318572"	""	""	""	"1"	""	"00085"	"{PMID:Samaraweera et al., 2016:27462043}"	"Patient is described as 40F in {PMID27462043:Samaraweera et al., 2016}"	""	""	""	""	"0"	""	""	""	""
"00318573"	""	""	""	"1"	""	"00085"	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	""	""	"0"	""	""	""	"Patient 79"
"00318574"	""	""	""	"1"	""	"00085"	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	""	""	"0"	""	""	""	"Patient 475"
"00318575"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 32, Female, 32y, both arterial and bowel events"	""	""	""	""	"0"	""	""	""	""
"00318576"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only father tested nl"	""	""	""	""	"0"	""	""	""	""
"00318577"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318578"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318579"	""	""	""	"1"	""	"00085"	"{PMID:Renner et al., 2019:30675029}"	"This variant was described as a \'variant of unknown significance\' and was predicted to have no effect on splice site by human splicing finder. The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	"Patient 121"
"00318580"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00318581"	""	""	""	"1"	""	"00085"	"{PMID:Konieczynska et al., 2019:31575845}"	"The patient (33F) is described in case 1, was pregnant twice and gave birth by uneventful vaginal delivery."	""	""	""	""	"0"	""	""	""	"Patient 1"
"00318582"	""	""	""	"1"	""	"03705"	""	"Mother of affected individual AN_002588 and sister of affected individual AN_002589."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00318583"	""	""	""	"1"	""	"00085"	"{PMID:Hassan et al., 2002:12173720}"	""	""	""	""	""	"0"	""	""	""	""
"00318584"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 123 in {PMID30919682:Henneton et al., 2019} and as patient 24 in {PMID30999998:Frank et al., 2019}. This patient was also subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318585"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318586"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318587"	""	""	""	"1"	""	"03704"	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	"This pateint was identified as Family 6 by {PMID21637106:Leistritz et al., 2011}."	""	""	""	""	"0"	""	""	""	""
"00318588"	""	""	""	"1"	""	"00085"	"{PMID:Henneton et al., 2019:30919682}"	"Patient is a 55 year old female."	""	""	""	""	"0"	""	""	""	"Patient 473"
"00318589"	""	""	""	"1"	""	"00085"	"{PMID:Konieczynska et al., 2019:31575845}"	"The patient (26F) is described in case 2, with hypermobility of the small joints, easy bruising, and no cardiac symptoms."	""	""	""	""	"0"	""	""	""	"Patien 2"
"00318590"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only mother tested nl"	""	""	""	""	"0"	""	""	""	""
"00318591"	""	""	""	"1"	""	"00085"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"This patient was first described in Goldstein et al., 1994 Matrix Biol 14:392-393 and then as patient 91-336 by {PMID9399899:Schwarze et al., 1997} and was included in the study by {PMID:Pepin et al., 2000:10706896}.The deletion results in the skipping of exon 22."	""	""	""	""	"0"	""	""	""	""
"00318592"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318593"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 413 in {PMID30919682:Henneton et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318594"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318595"	""	""	""	"1"	""	"00736"	"{PMID:Perdu et al., 2006:17159712}"	"The paper (in French) describes the mutation as c.1568G>A, p.322Gly>Glu which mixes standard nomenclature with old and uses legacy cDNA and amino acid numbers. The patient was subsequently described by {PMID25758994:Frank et al., 2015} and in {PMID30474650:Legrand et al., 2019}. This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 25 and as Index Patient 23 in {PMID30919682:Henneton et al., 2019}, with another female relative carrying the same variant."	""	""	""	""	"0"	""	""	""	""
"00318596"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00318597"	""	""	""	"1"	""	"00085"	"{PMID:Henneton et al., 2019:30919682}"	"This patient was subsequently described as Patient 27 in  {PMID30999998:Frank et al., 2019} and was also described in {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	"Patient 45"
"00318598"	""	""	""	"1"	""	"00085"	"{PMID:van de Luijtgaarden et al., 2015:26017485}"	"The variant segregates with aneurysms in the patient\'s family."	""	""	""	""	"0"	""	""	""	""
"00318599"	""	""	""	"1"	""	"01233"	"{PMID:Overwater 2018:29907982}"	"The technique used was the custom NGS Gene panel."	""	""	"Netherlands"	""	"0"	""	""	""	"Pat71"
"00318600"	""	""	""	"1"	""	"00085"	"{PMID:Drera et al., 2011:22019127}"	""	""	""	""	""	"0"	""	""	""	"P.6"
"00318601"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only mother tested nl"	""	""	""	""	"0"	""	""	""	""
"00318602"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318603"	""	""	""	"1"	""	"03712"	"{PMID:Cortini et al., 2016:27799058}"	"The technique used was the custom NGS Gene panel."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00318604"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	"This patient was presented as Subject 95-0606 by {PMID:Kerwin et al., 2008:18043893}."	""	""	""	""	"0"	""	""	""	""
"00318605"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 11, Female, 48y, arterial and bowel events; The niece, Patient 12, AN_002812, female, 32y, no arterial or bowel event, but carries the same mutation."	""	""	""	""	"0"	""	""	""	""
"00318606"	""	""	""	"1"	""	"00085"	"{PMID:Kelly et al., 2014:25422335}"	"The patient presented with a non-ST elevation myocardial infarction, and has a history of type II diabetes, hypertension, chronic oesophageal reflux disease, arthritis, depression and hypothyroidism."	""	""	""	""	"0"	""	""	""	""
"00318607"	""	""	""	"1"	""	"00085"	"{PMID:Müller et al., 2012:22038052}"	"This patient\'s variant was used as a control for the design of allele-specific siRNA knockdown."	""	""	""	""	"0"	""	""	""	""
"00318608"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318609"	""	""	""	"1"	""	"00085"	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318610"	""	""	""	"1"	""	"00085"	"{PMID:Nakagawa et al., 2015:26666608}"	""	""	""	""	""	"0"	""	""	""	""
"00318611"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 227 (32F) in {PMID30919682:Henneton et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}. They were marked positive for the following major criteria: vascular fragility, thin skin and easy bruises."	""	""	""	""	"0"	""	""	""	""
"00318612"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318613"	""	""	""	"1"	""	"00085"	"{PMID:Yagyu et al., 2019:31080229}"	""	""	""	""	""	"0"	""	""	""	""
"00318614"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00318615"	""	""	""	"1"	""	"00085"	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	""	""	"0"	""	""	""	"Patient 75"
"00318616"	""	""	""	"1"	""	"00085"	"{PMID:Drera et al., 2011:22019127}"	"In additon to the causal p.Gly912Ala variant, the patient also harbours the c.1804C>A (p.Pro602Thr) polymorphism and the c.1550C>T (p.Pro517Leu) variant. Segregation analysis of the patient\'s family suggests that the two variants, when combined with the p.G912A mutation, might increase the severity of the phenotype."	""	""	""	""	"0"	""	""	""	"P.14"
"00318617"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00318618"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	"This mutation is incorrectly reported by {PMID:Pepin et al., 2000:10706896} as G532V: it should be G352E."	""	""	""	""	"0"	""	""	""	""
"00318619"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318620"	""	""	""	"1"	""	"00085"	""	"This variant has not been reported in any patient and exists only as an entry in dbSNP. The expectation is that this variant would be disease causing, probably resulting in EDS IV."	""	""	""	""	"0"	""	""	""	""
"00318621"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Patient 33 in  {PMID30919682:Henneton et al., 2019}. This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 113."	""	""	""	""	"0"	""	""	""	""
"00318622"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318623"	""	""	""	"1"	""	"03704"	"{PMID:Smith et al., 1997:9036918} {PMID:Pepin et al., 2014:24922459}"	"This is Sample 6 as described by {PMID9036918:Smith et al., 1997} and he has an affected daughter, Sample 5."	""	""	""	""	"0"	""	""	""	""
"00318624"	""	""	""	"1"	""	"03704"	"{PMID:Smith et al., 1997:9036918} {PMID:Pepin et al., 2014:24922459}"	"This is Sample 7 as described by {PMID9036918:Smith et al., 1997}."	""	""	""	""	"0"	""	""	""	""
"00318625"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 31, Female, 38y, identified through family history, no event"	""	""	""	""	"0"	""	""	""	""
"00318626"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 14 in {PMID30919682:Henneton et al., 2019}, with another relative carrying the same variant. This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 30 and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318627"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Case Patient 95 in {PMID30919682:Henneton et al., 2019}. This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 29."	""	""	""	""	"0"	""	""	""	""
"00318628"	""	""	""	"1"	""	"03704"	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	"This is patient 04-948 as described by {PMID:Kerwin et al., 2008:18043893}."	""	""	""	""	"0"	""	""	""	""
"00318629"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318630"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318631"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318632"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only mother tested nl"	""	""	""	""	"0"	""	""	""	""
"00318633"	""	""	""	"1"	""	"00085"	"{PMID:Debette et al., 2014:25355833}"	"The proband, who had a cervical artery dissection (CeAD), had a positive family history (brother, same mutation), colon rupture, thin and translucent skin, and characteristic facial appearance."	""	""	""	""	"0"	""	""	""	""
"00318634"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318635"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 211 in {PMID30919682:Henneton et al., 2019}, with two relatives carrying the same variant. This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 32 and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318636"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318637"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318638"	""	""	""	"1"	""	"00085"	"{PMID:Drera et al., 2011:22019127}"	""	""	""	""	""	"0"	""	""	""	"P.7"
"00318639"	""	""	""	"1"	""	"00085"	"{PMID:Chan et al., 2008:18272325}"	"This is a non-pathogenic variant."	""	""	""	""	"0"	""	""	""	""
"00318640"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"This patient was referred to as 88-039 by {PMID9399899:Schwarze et al., 1997}, as patient 16 or 17 by {PMID9036918:Smith et al., 1997} and was included in the study by {PMID:Pepin et al., 2000:10706896}."	""	""	""	""	"0"	""	""	""	""
"00318641"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID9399899:Schwarze et al., 1997} as patient 94-750 and also included in the study by {PMID:Pepin et al., 2000:10706896}."	""	""	""	""	"0"	""	""	""	""
"00318642"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID9399899:Schwarze et al., 1997} as patient 94-190 and also included in the study by {PMID:Pepin et al., 2000:10706896}."	""	""	""	""	"0"	""	""	""	""
"00318643"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID9399899:Schwarze et al., 1997} as patient 96-404 and also included in the study by {PMID:Pepin et al., 2000:10706896}."	""	""	""	""	"0"	""	""	""	""
"00318644"	""	""	""	"1"	""	"00085"	"{PMID:Pope et al., 1996:8881656}"	""	""	""	""	""	"0"	""	""	""	"Patient 21"
"00318645"	""	""	""	"1"	""	"00085"	"{PMID:Pope et al., 1996:8881656}"	""	""	""	""	""	"0"	""	""	""	"Patient 22"
"00318646"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318647"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318648"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318649"	""	""	""	"1"	""	"00085"	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318650"	""	""	""	"1"	""	"00085"	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318651"	""	""	""	"1"	""	"00085"	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318652"	""	""	""	"1"	""	"00085"	"{PMID:Omori et al., 2011:21533953}"	"Reduction in type III collagen synthesis was detected by protein electrophoresis. Skipping of exon 24 was demonstrated by cDNA sequencing."	""	""	""	""	"0"	""	""	""	""
"00318653"	""	""	""	"1"	""	"00085"	"{PMID:Naing et al., 2011:21219851}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318654"	""	""	""	"1"	""	"00085"	"{PMID:Naing et al., 2011:21219851}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318655"	""	""	""	"1"	""	"00736"	"{PMID:Ferré et al., 2012:22492385}"	"This individual is identified as Patient 7 by {PMID22492385:Ferré et al., 2012} and was subsequently described by {PMID25758994:Frank et al., 2015}. This patient was subsequently described as Index Case Patient 181 in {PMID30919682:Henneton et al., 2019}. This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 115."	""	""	""	""	"0"	""	""	""	""
"00318656"	""	""	""	"1"	""	"00736"	"{PMID:Ferré et al., 2012:22492385}"	"This individual is identified as Patient 13 by {PMID22492385:Ferré et al., 2012} and was subsequently described by {PMID25758994:Frank et al., 2015}. This patient was subsequently described as Index Case Patient 120 in {PMID30919682:Henneton et al., 2019}. This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 116 and was also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318657"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Case Patient 121 in {PMID30919682:Henneton et al., 2019} and was also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318658"	""	""	""	"1"	""	"03704"	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	"This patient was identified as Subject 99-0992 by {PMID:Kerwin et al., 2008:18043893}."	""	""	""	""	"0"	""	""	""	""
"00318659"	""	""	""	"1"	""	"03704"	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	"This patient was identified as Subject 02-1039 by {PMID:Kerwin et al., 2008:18043893}."	""	""	""	""	"0"	""	""	""	""
"00318660"	""	""	""	"1"	""	"00085"	"{PMID:Kim et al., 2014:24653803}"	"The patient presented with ophthalmoplegia and chemosis in the right eye due to a carotid-cavernous fistula. Both of her daughters harbour the same variant."	""	""	""	""	"0"	""	""	""	""
"00318661"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318662"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318663"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318664"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318665"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only mother tested nl"	""	""	""	""	"0"	""	""	""	""
"00318666"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318667"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318668"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318669"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318670"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318671"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318672"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318673"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318674"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318675"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318676"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318677"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318678"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318679"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318680"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318681"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318682"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318683"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318684"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318685"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Case Patient 402 in {PMID30919682:Henneton et al., 2019}. This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 117 and was also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318686"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 114 and was also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318687"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Case Patient 87 in {PMID30919682:Henneton et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318688"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318689"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"vascular/hypermobile: Subependymal intracerebral haemorrhage at birth, hypermobility, easy bruisingOriginal study ID 765"	""	""	"Bangladesh"	""	"0"	""	""	"Bangladeshi"	""
"00318690"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"Acrogeria & easy bruising - [original study ID  405]"	""	""	""	""	"0"	""	""	"white"	""
"00318691"	""	""	""	"1"	""	"00085"	"{PMID:Yasuda et al., 2014:25293415}"	"The patient presented with a subclavian artery aneurysm.Formally, the published account does not mention the gene in which the sequence variant was found but it is consistent with COL3A1."	""	""	""	""	"0"	""	""	""	""
"00318692"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Case Patient 324 in {PMID30919682:Henneton et al., 2019}. This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 118 and was also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318693"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318694"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00318695"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318696"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only father tested nl"	""	""	""	""	"0"	""	""	""	""
"00318697"	""	""	""	"1"	""	"00085"	"{PMID:Okamoto et al., 2008:18779970}"	""	""	""	""	""	"0"	""	""	""	""
"00318698"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 237 (37M) in {PMID30919682:Henneton et al., 2019}. This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 34 and also described in {PMID30474650:Legrand et al., 2019}.They were marked as positive for the Villefranche major criteria of vascular fragility, thin skin, and easy bruises."	""	""	""	""	"0"	""	""	""	""
"00318699"	""	""	""	"1"	""	"00085"	"{PMID:Jamuar et al., 2016:27077130}"	"The technique used was the custom NGS Gene panel."	""	""	"Malaysia"	""	"0"	""	""	"Malay"	""
"00318700"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 415 (34F) in {PMID30919682:Henneton et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}. They were marked as positive for the Villefranche major criteria of vascular fragility and easy bruises."	""	""	""	""	"0"	""	""	""	""
"00318701"	""	""	""	"1"	""	"00085"	"{PMID:Mackay et al., 1996:8884076}"	""	""	""	""	""	"0"	""	""	""	""
"00318702"	""	""	""	"1"	""	"00736"	""	"This patient was subsequently described as Index Case Patient 310 in {PMID30919682:Henneton et al., 2019}, with three other relatives carrying the same variant. This patient was subsequently described in {PMID30999998:Frank et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318703"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318704"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00318705"	""	""	""	"1"	""	"00085"	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318706"	""	""	""	"1"	""	"00085"	"{PMID:Anderson et al., 1997:8990011}"	""	""	""	""	""	"0"	""	""	""	""
"00318707"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318708"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318709"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318710"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"affected sib"	""	""	""	""	"0"	""	""	""	""
"00318711"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 359 (34F) in {PMID30919682:Henneton et al., 2019}. This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 39 and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318712"	""	""	""	"1"	""	"00085"	"{PMID:Weerakkody et al., 2018:29543232}"	"The technique used was the custom exome panel."	""	""	""	""	"0"	""	""	""	""
"00318713"	""	""	""	"1"	""	"03704"	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	"This patient was identified as Subject 02-0782 by {PMID:Kerwin et al., 2008:18043893}."	""	""	""	""	"0"	""	""	""	""
"00318714"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318715"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318716"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	"P006"
"00318717"	""	""	""	"1"	""	"00085"	"{PMID:Drera et al., 2011:22019127}"	"The variant causes skipping of exon 25."	""	""	""	""	"0"	""	""	""	"P.8"
"00318718"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318719"	""	""	""	"1"	""	"00085"	"{PMID:Park et al., 2017:29381997}"	""	""	""	""	""	"0"	""	""	""	""
"00318720"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318721"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318722"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This variant was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318723"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318724"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only mother tested nl"	""	""	""	""	"0"	""	""	""	""
"00318725"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 1991:1672129}"	""	""	""	""	""	"0"	""	""	""	""
"00318726"	""	""	""	"1"	""	"00085"	"{PMID:Renner et al., 2019:30675029}"	"Patient had a phenotype of intercranial aneurysms. The variant was described as a \'variant of unknown significance\' and was predicted to have no impact on splicing by Human Splicing Finder. The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	"Patient 50"
"00318727"	""	""	""	"1"	""	"03704"	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	"This patient was identified as Subject 01-0389 by {PMID:Kerwin et al., 2008:18043893}."	""	""	""	""	"0"	""	""	""	""
"00318728"	""	""	""	"1"	""	"00085"	"{PMID:Mortani Barbosa et al., 2011:22065459}"	""	""	""	""	""	"0"	""	""	""	"Patient 1"
"00318729"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318730"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318731"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318732"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318733"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 444 (38M) in {PMID30919682:Henneton et al., 2019}. This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 40 and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318734"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 38, Female, 32y, arterial and bowel events"	""	""	""	""	"0"	""	""	""	""
"00318735"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318736"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 40, Female, 38y, arterial event"	""	""	""	""	"0"	""	""	""	""
"00318737"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"Vascular EDS facies and aortic rupture [originally identified with ID 46]"	""	""	""	""	"0"	""	""	"white"	""
"00318738"	""	""	""	"1"	""	"00085"	"{PMID:Shalhub et al., 2014:24650746}"	"34 year old female with hepatic artery aneurysm."	""	""	""	""	"0"	""	""	""	""
"00318739"	""	""	""	"1"	""	"03704"	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	"This patient is described as Family 7 by {PMID21637106:Leistritz et al., 2011}."	""	""	""	""	"0"	""	""	""	""
"00318740"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"The family in which both COL3A1 variants segregate was described in more detail subsequently by {PMID25205403:Jørgensen et al., 2014}.This patient was subsequently described as Patient 4 by {PMID28258187:Vandervore et al., 2017}."	""	""	""	""	"0"	""	""	""	""
"00318741"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318742"	""	""	""	"1"	""	"00085"	""	"The potential pathogenicity of this variant is unclear."	""	""	""	""	"0"	""	""	""	""
"00318743"	""	""	""	"1"	""	"00085"	"{PMID:Omoyinmi et al., 2017:28750028}"	"Patient received a probably diagnosis of unclassified familial granulomatous AID. They are a sibling of Patient 48, and also carry a number of other variants related to vasculitis and inflammation. The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	"Black African"	"Patient 47"
"00318744"	""	""	""	"1"	""	"00085"	"{PMID:Busch et al., 2016:27488172}"	"Patient was a 44 year old female and has a sister and niece with the same vascular EDS mutation."	""	""	""	""	"0"	""	""	""	"Patient 3"
"00318745"	""	""	""	"1"	""	"03704"	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	"Described as Family 9 by {PMID21637106:Leistritz et al., 2011}."	""	""	""	""	"0"	""	""	""	""
"00318746"	""	""	""	"1"	""	"00085"	"{PMID:Matsushita et al., 2009:19764513}"	""	""	""	""	""	"0"	""	""	""	""
"00318747"	""	""	""	"1"	""	"00085"	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318748"	""	""	""	"1"	""	"00085"	"{PMID:Drera et al., 2011:22019127}"	""	""	""	""	""	"0"	""	""	""	"P.9"
"00318749"	""	""	""	"1"	""	"00085"	"{PMID:Dar et al., 2012:22610159}"	"The variant is described only in terms of the amino acid position and change and the location appears to be misreported as exon 29."	""	""	""	""	"0"	""	""	""	""
"00318750"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318751"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318752"	""	""	""	"1"	""	"01233"	"{PMID:Overwater 2018:29907982}"	"No splicing defects detected by RNA analysis (with or without cycloheximide). However, a null-allele could not be excluded.In silico analysis of the deleted base predicts elimination of a functional splice site.The technique used was the custom NGS Gene panel."	""	""	"Netherlands"	""	"0"	""	""	""	"Pat72"
"00318753"	""	""	""	"1"	""	"00085"	"{PMID:Sakai et al., 2012:22001912}"	"The clinical diagnosis in patient 29 was Thoracic AAD. The variant was detected by resequencing microarray technology."	""	""	"Japan"	""	"0"	""	""	"Japanese"	"Patient 29"
"00318754"	""	""	""	"1"	""	"00085"	"{PMID:Wang et al., 2018:30115950}"	"The patient was diagnosed with intracranial vertebral-basilar artery dissection (IVAD). The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	""
"00318755"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	"The patient was described as a member of Family 27. This patient was subsequently described as Index Case Patient 105 (40F) in {PMID30919682:Henneton et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00318756"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318757"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 2001:11577371} {PMID:Pepin et al., 2014:24922459}"	"Described as individual P1 by {PMID:Schwarze et al., 2001:11577371} and as Family 8 by {PMID21637106:Leistritz et al., 2011}."	""	""	""	""	"0"	""	""	""	""
"00318758"	""	""	""	"1"	""	"00085"	"{PMID:Drera et al., 2011:22019127}"	"This patient is also reported as Patient 3 in  {PMID29346445:Chiarelli et al., 2018}"	""	""	""	""	"0"	""	""	""	"P.10"
"00318759"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Case Patient 175 in {PMID30919682:Henneton et al., 2019}. This is a relative of Patient 170, but they carry different variants. This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 41 and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318760"	""	""	""	"1"	""	"00085"	"{PMID:Watanabe et al., 2007:17251678}"	""	""	""	""	""	"0"	""	""	""	""
"00318761"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318762"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00318763"	""	""	""	"1"	""	"00085"	"{PMID:Valkkila et al., 2001:11566270}"	"This is a non-pathogenic variant."	""	""	""	""	"0"	""	""	""	""
"00318764"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 412 (14F) in {PMID30919682:Henneton et al., 2019}. They were marked as positive for digestive fragility and thin skin. This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 42 and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318765"	""	""	""	"1"	""	"00085"	"{PMID:Kaadan et al., 2018:29650765}"	""	""	""	""	""	"0"	""	""	""	""
"00318766"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318767"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318768"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318769"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only father tested nl"	""	""	""	""	"0"	""	""	""	""
"00318770"	""	""	""	"1"	""	"00085"	"{PMID:Shimaoka et al., 2013:23293852}"	"This variant results in skipping of exon 27."	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318771"	""	""	""	"1"	""	"00736"	""	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318772"	""	""	""	"1"	""	"00085"	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318773"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318774"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318775"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00318776"	""	""	""	"1"	""	"00085"	"{PMID:Thakker-Varia et al., 1995:7581395}"	""	""	""	""	""	"0"	""	""	""	""
"00318777"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00318778"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"Described as patient 95-851 by {PMID9399899:Schwarze et al., 1997}.Results in skipping of exon 27."	""	""	""	""	"0"	""	""	""	""
"00318779"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318780"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	"Results in skipping of exon 28."	""	""	""	""	"0"	""	""	""	""
"00318781"	""	""	""	"1"	""	"00085"	"{PMID:Colebatch et al., 2011:21946467}"	"The exon in which the variant was detected was reported incorrectly as exon 27."	""	""	""	""	"0"	""	""	""	""
"00318782"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318783"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	"This patient was also presented as Subject 98-0575 by {PMID:Kerwin et al., 2008:18043893}."	""	""	""	""	"0"	""	""	""	""
"00318784"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318785"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318786"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318787"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318788"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 440 (31M) in {PMID30919682:Henneton et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318789"	""	""	""	"1"	""	"00085"	"{PMID:Brightwell and Walker, 2011:21782484}"	""	""	""	""	""	"0"	""	""	""	""
"00318790"	""	""	""	"1"	""	"00085"	"{PMID:Lund, 2005:16513057}"	""	""	""	""	""	"0"	""	""	""	"P3"
"00318791"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	"Results in skipping of exon 28."	""	""	""	""	"0"	""	""	""	""
"00318792"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318793"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID9399899:Schwarze et al., 1997} as patient 96-474 and also included in the study by {PMID:Pepin et al., 2000:10706896}. Results in skipping of exon 28."	""	""	""	""	"0"	""	""	""	""
"00318794"	""	""	""	"1"	""	"00085"	"{PMID:Park et al., 2019:31324749}"	"This variant was shown to result in Exon 28 skipping."	""	""	""	""	"0"	""	""	""	""
"00318795"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318796"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"The variant in this patient (ID 417) is mistakenly reported as c.1922_1923+2delAAGT.Overlapping features of classical, hypermobility and (vascular) EDS: Widened atrophic scars, tissue fragility, marked generalised hypermobility (Beighton 6), normal facies, history of colonic perforation. Collagen proteins: absent proa1(III) and collagen III;  LM: marked collagen depletion & increased elastin staining;  EM: variable collagen fibril size & shape, dilated endoplasmic reticulum."	""	""	""	""	"0"	""	""	"white"	""
"00318797"	""	""	""	"1"	""	"00085"	"{PMID:Ishiguro et al., 2009:19420820}"	"The description of the variant at the amino acid level is incorrect in the paper but has been corrected with the authors\' help."	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318798"	""	""	""	"1"	""	"00085"	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318799"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318800"	""	""	""	"1"	""	"00085"	"{PMID:Chan et al., 2008:18272325}"	"This is a non-pathogenic variant."	""	""	""	""	"0"	""	""	""	""
"00318801"	""	""	""	"1"	""	"00085"	"{PMID:Lim et al., 2018:30067098}"	""	""	""	""	""	"0"	""	""	""	""
"00318802"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318803"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	""	""	""	""	""	"0"	""	""	""	""
"00318804"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318805"	""	""	""	"1"	""	"00085"	"{PMID:Jiao et al., 2018:30627513}"	"This patient is a rare case of EDS with infective endocarditis."	""	""	""	""	"0"	""	""	""	""
"00318806"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318807"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318808"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 364 (17M) in {PMID30919682:Henneton et al., 2019}, with another relative carrying the variant. This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 119 and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318809"	""	""	""	"1"	""	"00085"	"{PMID:Renner et al., 2019:30675029}"	"The variant is described as a \'variant of unknown significance\' and no impact on splicing is predicted by Human Splicing Finder. The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	"Patient 103"
"00318810"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318811"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318812"	""	""	""	"1"	""	"03704"	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	"This patient was identified as Subject 93-0301 by {PMID:Kerwin et al., 2008:18043893}."	""	""	""	""	"0"	""	""	""	""
"00318813"	""	""	""	"1"	""	"00085"	"{PMID:Nakamura et al., 2009:19477391}"	""	""	""	""	""	"0"	""	""	""	""
"00318814"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318815"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318816"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318817"	""	""	""	"1"	""	"00085"	"{PMID:McGrory et al., 1996:8664902}"	""	""	""	""	""	"0"	""	""	""	""
"00318818"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318819"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318820"	""	""	""	"1"	""	"00085"	"{PMID:Tromp et al., 1993:8514866}"	"This is a non-pathogenic variant."	""	""	""	""	"0"	""	""	""	""
"00318821"	""	""	""	"1"	""	"03711"	""	"Other HDCT (phenotype largely outside EDS spectrum) with vascular phenotype: Marfanoid hypermobility, joint pain, soft thin skin, aortic dilatation, colitis"	""	""	""	""	"0"	""	""	"white"	""
"00318822"	""	""	""	"1"	""	"00085"	"{PMID:Ziganshin et al., 2015:26188975}"	"The variant in this patient is described as being of Unknown significance.The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	"Patient 8"
"00318823"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID9399899:Schwarze et al., 1997} as patient 95-563 and also included in the study by {PMID:Pepin et al., 2000:10706896}. The variant in the last base of exon 30 results in elimination of the splice site and skipping of the exon."	""	""	""	""	"0"	""	""	""	""
"00318824"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318825"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318826"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00318827"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318828"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318829"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318830"	""	""	""	"1"	""	"03704"	"{PMID:Khalique et al., 2009:19695909} {PMID:Pepin et al., 2014:24922459}"	"Reported as Family 10 by {PMID21637106:Leistritz et al., 2011}.The variant shifts the splice acceptor site of intron 30 by 1 base into exon 31, resulting in a frameshift."	""	""	""	""	"0"	""	""	""	""
"00318831"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318832"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00318833"	""	""	""	"1"	""	"00085"	"{PMID:Chan et al., 2008:18272325}"	""	""	""	""	""	"0"	""	""	""	""
"00318834"	""	""	""	"1"	""	"00085"	"{PMID:Germain, 2007:17640391}"	""	""	""	""	""	"0"	""	""	""	""
"00318835"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 44."	""	""	""	""	"0"	""	""	""	""
"00318836"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Case Patient 385 in {PMID30919682:Henneton et al., 2019}, with another relative carrying the variant, and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318837"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"This patient was originally identified as ID 39 by the authors. The patient was subsequently described as a member of Family 4 by {PMID30837697:Ghali et al., 2019}.Hypermobility EDS / BJHS: marked hypermobility, bowel fragility. **This patient also has a VUS of COL1A2 (c.2861T>C : p.Ile954Thr) and a TNXB gene duplication (also of uncertain clinical significance)"	""	""	"India"	""	"0"	""	""	"Asian"	""
"00318838"	""	""	""	"1"	""	"00085"	"{PMID:Ghali et al., 2019:30837697}"	""	"M"	""	"Scotland"	""	"0"	""	""	"Scottish"	"Family 1 V3"
"00318839"	""	""	""	"1"	""	"00085"	"{PMID:Ghali et al., 2019:30837697}"	"The sequence variant was also identified in the proband\'s father (IV.1) and in her sister (V.3)."	"F"	""	""	""	"0"	""	""	"white"	"Family 5 V.1"
"00318840"	""	""	""	"1"	""	"01233"	"{PMID:Overwater 2018:29907982}"	"The technique used was the custom NGS Gene panel."	"F"	""	"Netherlands"	""	"0"	""	""	""	"Pat12"
"00318841"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"affected sib"	""	""	""	""	"0"	""	""	""	""
"00318842"	""	""	""	"1"	""	"00085"	""	""	""	""	""	""	"0"	""	""	""	""
"00318843"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318844"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00318845"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318846"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318847"	""	""	""	"1"	""	"00085"	"{PMID:Drera et al., 2011:22019127}"	""	""	""	""	""	"0"	""	""	""	"P.11"
"00318848"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318849"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318850"	""	""	""	"1"	""	"00085"	"{PMID:Zafarullah et al., 1990:2235526}"	"This is a non-pathogenic variant."	""	""	""	""	"0"	""	""	""	""
"00318851"	""	""	""	"1"	""	"00085"	"{PMID:Chen et al., 2011:21609597}"	"The variant is described incorrectly at the DNA level as c.2209G>A and in exon 30. Although the authors claim that this variant accounts for the EDS phenotype in their patient, it\'s a common variant which is probably not pathogenic."	""	""	""	""	"0"	""	""	""	""
"00318852"	""	""	""	"1"	""	"00085"	"{PMID:Chou et al., 2004:15193836}"	"The variant is described incorrectly at the DNA level as c.2209G>A and in exon 31. The variant is elevated in patients with floppy mitral valve/mitral valve prolapse."	""	""	""	""	"0"	""	""	""	""
"00318853"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318854"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as patient 45 in {PMID30999998:Frank et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}.."	""	""	""	""	"0"	""	""	""	""
"00318855"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318856"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Case Patient 350 in {PMID30919682:Henneton et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00318857"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318858"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318859"	""	""	""	"1"	""	"00085"	"{PMID:Poninska et al., 2016:27146836}"	"The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	""
"00318860"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318861"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318862"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318863"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318864"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only mother tested nl"	""	""	""	""	"0"	""	""	""	""
"00318865"	""	""	""	"1"	""	"00085"	"{PMID:Shalhub et al., 2019:30793832}"	""	""	""	""	""	"0"	""	""	""	""
"00318866"	""	""	""	"1"	""	"00085"	"{PMID:Nanayakkara et al., 2006:17122455}"	""	""	""	""	""	"0"	""	""	""	""
"00318867"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 30, Female, 28y, arterial event"	""	""	""	""	"0"	""	""	""	""
"00318868"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318869"	""	""	""	"1"	""	"03704"	"{PMID:Chuman et al., 2002:12131463} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID:Chuman et al., 2002:12131463} as Case 2."	""	""	""	""	"0"	""	""	""	""
"00318870"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318871"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318872"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318873"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318874"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318875"	""	""	""	"1"	""	"00085"	"{PMID:Naing et al., 2011:21219851}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318876"	""	""	""	"1"	""	"00736"	"{PMID:Ferré et al., 2012:22492385}"	"The patient was subsequently described by {PMID25758994:Frank et al., 2015}. This patient was subsequently described as Index Patient 315 (34M) in {PMID30919682:Henneton et al., 2019}, with another two relatives that carry the same variant. This patient was subsequently described as patient 46 in {PMID30999998:Frank et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	"Patient 14"
"00318877"	""	""	""	"1"	""	"00085"	"{PMID:Yoneda et al., 2014:24932165}"	"The patient presented with abdominal pain due to dilatation of the sigmoid colon with intraperitoneal fluid. Figure 4 of the paper shows non-variant sequencing traces for both patient and control."	""	""	""	""	"0"	""	""	""	""
"00318878"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318879"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318880"	""	""	""	"1"	""	"00085"	"{PMID:Bateman et al., 1997:9452103}"	""	""	""	""	""	"0"	""	""	""	""
"00318881"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318882"	""	""	""	"1"	""	"00085"	"{PMID:He et al., 2014:25420629}"	""	""	""	"China"	""	"0"	""	""	"Chinese"	"P1, II-14"
"00318883"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"father mosaic"	""	""	""	""	"0"	""	""	""	""
"00318884"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318885"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318886"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"affected sib"	""	""	""	""	"0"	""	""	""	""
"00318887"	""	""	""	"1"	""	"00085"	"{PMID:Naing et al., 2011:21219851}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318888"	""	""	""	"1"	""	"00085"	"{PMID:Naing et al., 2014:24971038}"	"The proband and his mother both carried the c.2187delA variant."	""	""	""	""	"0"	""	""	""	""
"00318889"	""	""	""	"1"	""	"00085"	"{PMID:Drera et al., 2011:22019127}"	""	""	""	""	""	"0"	""	""	""	"P.12"
"00318890"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318891"	""	""	""	"1"	""	"00085"	"{PMID:Mestek-Boukhibar et al., 2018:30049826}"	"The technique used was whole genome sequencing."	""	""	""	""	"0"	""	""	""	""
"00318892"	""	""	""	"1"	""	"00085"	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318893"	""	""	""	"1"	""	"00085"	"{PMID:Yang et al., 2007:17728513}"	""	""	""	""	""	"0"	""	""	""	"Patient 1"
"00318894"	""	""	""	"1"	""	"03706"	""	""	""	""	""	""	"0"	""	""	""	""
"00318895"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318896"	""	""	""	"1"	""	"03704"	"{PMID:Gilchrist et al., 1999:10051163} {PMID:Pepin et al., 2014:24922459}"	"Also included in the study by {PMID:Pepin et al., 2000:10706896}."	""	""	""	""	"0"	""	""	""	""
"00318897"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318898"	""	""	""	"1"	""	"00085"	"{PMID:Debette et al., 2014:25355833}"	"In the original (non-revised) publication, the patient was described incorrectly as harbouring the protein-level variant p.Gly571Arg."	""	""	""	""	"0"	""	""	""	""
"00318899"	""	""	""	"1"	""	"00085"	"{PMID:Kaadan et al., 2018:29650765}"	""	""	""	""	""	"0"	""	""	""	""
"00318900"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318901"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318902"	""	""	""	"1"	""	"00085"	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318903"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 21, Female, 37y, arterial event"	""	""	""	""	"0"	""	""	""	""
"00318904"	""	""	""	"1"	""	"00736"	""	"This patient was subsequently described as Patient 262 in {PMID30919682:Henneton et al., 2019} who has a relative who carries the same variant and another relative, Patient 258, who carries a separate COL3A1 variant (c.4011+1G>A). This patient was also subsequently described as patient 49 in {PMID30999998:Frank et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318905"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318906"	""	""	""	"1"	""	"00085"	"{PMID:Inokuchi et al., 2014:25526469}"	"The patient does not present with the typical facial appearance of vEDS."	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318907"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 110 (F27) in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 48 in {PMID30999998:Frank et al., 2019} and also described in  {PMID30474650:Legrand et al., 2019}. In {PMID30999998:Frank et al., 2019} they were incorrectly reported as c.2221G>A."	""	""	""	""	"0"	""	""	""	""
"00318908"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318909"	""	""	""	"1"	""	"00085"	"{PMID:Berezowska et al., 2018:29323927}"	"There is no formal presentation of the variant at gene or transcript level. The variant is deduced to be c.2222G>C."	""	""	""	""	"0"	""	""	""	""
"00318910"	""	""	""	"1"	""	"00085"	"{PMID:Renner et al., 2019:30675029}"	"Patient is described as having heritable connective tissue disorders and CAAD (carotid artery aneurysm and dissection). The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	"Patient 152"
"00318911"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	""	""	""	""	""	"0"	""	""	""	""
"00318912"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318913"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 51."	""	""	""	""	"0"	""	""	""	""
"00318914"	""	""	""	"1"	""	"00085"	"{PMID:Tromp et al., 1991:2011540}"	""	""	""	""	""	"0"	""	""	""	""
"00318915"	""	""	""	"1"	""	"00085"	"{PMID:Henneton et al., 2019:30919682}"	"This patient was subsequently described as Patient 52 in  {PMID30999998:Frank et al., 2019} and was also described in {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	"Patient 55"
"00318916"	""	""	""	"1"	""	"00085"	"{PMID:Madhatheri et al., 1994:7912131}"	""	""	""	""	""	"0"	""	""	""	""
"00318917"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318918"	""	""	""	"1"	""	"03706"	""	""	""	""	""	""	"0"	""	""	""	""
"00318919"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318920"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318921"	""	""	""	"1"	""	"03704"	"{PMID:Vissing et al., 1991:2002056} {PMID:Pepin et al., 2014:24922459}"	"This patient, originally referred to as B.H. by {PMID2002056:Vissing et al., 1991}, was included in the study by {PMID:Pepin et al., 2000:10706896} and was referred to as sample 22 by {PMID9036918:Smith et al., 1997}.The variant is reported as c.2284-109_3489del by {PMID24922459:Pepin et al., 2014}."	""	""	""	""	"0"	""	""	""	""
"00318922"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318923"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 26, Female, 53y, arterial event"	""	""	""	""	"0"	""	""	""	""
"00318924"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318925"	""	""	""	"1"	""	"00085"	"{PMID:Mackay et al., 1996:8884076}"	""	""	""	""	""	"0"	""	""	""	""
"00318926"	""	""	""	"1"	""	"00736"	"{PMID:Ferré et al., 2012:22492385}"	"This individual is identified as Patient 2 by {PMID22492385:Ferré et al., 2012} and was subsequently described by {PMID25758994:Frank et al., 2015}. This patient was subsequently described as Index Case Patient 145 (25F) in {PMID30919682:Henneton et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}. This patient was subsequently described in {PMID30999998:Frank et al., 2019} as patient 53."	""	""	""	""	"0"	""	""	""	""
"00318927"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 28, Female, 27y, no arterial or bowel event"	""	""	""	""	"0"	""	""	""	""
"00318928"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318929"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318930"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	""	""	""	""	""	"0"	""	""	""	""
"00318931"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Case Patient 152 in {PMID30919682:Henneton et al., 2019} and also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318932"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318933"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Case Patient 409 in {PMID30919682:Henneton et al., 2019}, with another relative carrying the same variant, and was also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318934"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318935"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}. This patient was subsequently described in {PMID30999998:Frank et al., 2019} as Patient 57. This patient was also described as Patient 453 in {PMID30919682:Henneton et al., 2019} with three other relatives who all carried the same variant. They were incorrectly reported as carrying variant c.2293G>A."	""	""	""	""	"0"	""	""	""	""
"00318936"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318937"	""	""	""	"1"	""	"00085"	"{PMID:Busch et al., 2016:27488172}"	"The 22F patient presented with symptoms of vertebral aneurysm."	""	""	""	""	"0"	""	""	""	"Patient 7"
"00318938"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00318939"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00318940"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"Classical EDS. Clear phenotype - markedly hyperextensible skin, generalised hypermobility (Beighton 8) including marked distal hypermobility, facies  suggestive of Classical EDS, no critieria met for Vascular EDS. Collagen Proteins: normal proα1(III) pattern, LM: thickened elastic fibres. EM: irregular packing of collagen fibrils (no collagen rosettes).  This patient has a disease-causing variant in COL3A1 but the intronic COL5A2 VUS is unlikely to disrupt splicing.This patient is also identified with ID 636. The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	"white"	""
"00318941"	""	""	""	"1"	""	"00085"	"{PMID:Kuivaniemi et al., 1995:7665911}"	"The substitution at the last base of the exon leads to exon skipping"	""	""	""	""	"0"	""	""	""	""
"00318942"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only mother tested nl"	""	""	""	""	"0"	""	""	""	""
"00318943"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID9399899:Schwarze et al., 1997} as patient 93-177 and also included in the study by {PMID:Pepin et al., 2000:10706896}. Results in skipping of exon 34."	""	""	""	""	"0"	""	""	""	""
"00318944"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318945"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00318946"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID9399899:Schwarze et al., 1997} as patient 78-042 and also included in the study by {PMID:Pepin et al., 2000:10706896}. Results in skipping of exon 34."	""	""	""	""	"0"	""	""	""	""
"00318947"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318948"	""	""	""	"1"	""	"00085"	"{PMID:Kontusaari et al., 1990:2243125}"	""	""	""	""	""	"0"	""	""	""	""
"00318949"	""	""	""	"1"	""	"00085"	"Yang et al., 2006 {ASHG06:30420:Abstract}"	""	""	""	""	""	"0"	""	""	""	""
"00318950"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 6, Female, 37y, arterial event; Her son, patient 7, AN_002807, carries the same mutation"	""	""	""	""	"0"	""	""	""	""
"00318951"	""	""	""	"1"	""	"03704"	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	"This is Subject 03-0910 described by {PMID:Kerwin et al., 2008:18043893}. She is almost certainly related to the patient M.H. described by {PMID2243125:Kontusaari et al., 1990}."	""	""	""	""	"0"	""	""	""	""
"00318952"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318953"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318954"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00318955"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318956"	""	""	""	"1"	""	"00736"	""	"This patient was subsequently described as Index Case Patient 435 in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 60 in {PMID30999998:Frank et al., 2019} and also described in  {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318957"	""	""	""	"1"	""	"00085"	"{PMID:Henneton et al., 2019:30919682}"	"This patient has a female relative who also carries the same variant."	""	""	""	""	"0"	""	""	""	"Patient 61"
"00318958"	""	""	""	"1"	""	"00085"	"{PMID:Tonnessen et al., 2007:17210404}"	"The mutation in this paper is incorrectly described as arginine for glycine. The correct mutation description and the causative mutation have been confirmed with  the authors."	""	""	""	""	"0"	""	""	""	""
"00318959"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318960"	""	""	""	"1"	""	"00085"	"{PMID:Ouchi et al., 2019:31891008}"	"The patient also presented with end-stage kidney disease, with a complicated past medical history of diabetes, congestive heart failure, benign brain tumor and dyslipidemia. The authors do not exclude the possibility that this is a newly reported vEDS subtype causing the phenotype. The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00318961"	""	""	""	"1"	""	"00085"	"{PMID:Narcisi et al., 1994:7833919}"	"The patient also displayed symptoms of articular hypermobility syndrome.  It appears that this patient is also presented as Patient 14 by {PMID:Pope et al., 1996:8881656}."	"M"	""	""	""	"0"	""	""	""	""
"00318962"	""	""	""	"1"	""	"00085"	"{PMID:Kashizaki et., 2013:23374456}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318963"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"Overlapping features of vascular and hypermobility type EDS. Original study ID 42."	""	""	""	""	"0"	""	""	"white"	""
"00318964"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318965"	""	""	""	"1"	""	"00085"	"{PMID:Giunta and Steinmann, 2000:10923041}"	"The patient\'s variant was originally described as c.2547+1G>C but that mixes current nomeclature with old cDNA coordinates."	""	""	""	""	"0"	""	""	""	"P8"
"00318966"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318967"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	"Results in skipping of exon 36."	""	""	""	""	"0"	""	""	""	""
"00318968"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 381 (39F) in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 121 in {PMID30999998:Frank et al., 2019} and also described in  {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00318969"	""	""	""	"1"	""	"00085"	"{PMID:Shalhub et al., 2019:30793832}"	""	""	""	""	""	"0"	""	""	""	""
"00318970"	""	""	""	"1"	""	"00085"	"{PMID:Eder et al., 2013:23489429}"	"The patient also had severe peripheral artery occlusive disease (PAOD) and subtotal stenosis of the abdominal aorta."	""	""	""	""	"0"	""	""	"white"	""
"00318971"	""	""	""	"1"	""	"00085"	"{PMID:Richards et al., 1993:8411057}"	"The full clinical details of the patient were reported previously by {PMID:Pope et al., 1991:1772601} as Patient 1. It appears that this patient is also presented as Patient 13 by {PMID8881656:Pope et al., 1996} though the substituting amino acid is mistakenly identified as Asp rather than Arg."	""	""	""	""	"0"	""	""	""	""
"00318972"	""	""	""	"1"	""	"00085"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318973"	""	""	""	"1"	""	"00736"	""	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318974"	""	""	""	"1"	""	"00085"	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	""	""	"0"	""	""	""	"Patient 284"
"00318975"	""	""	""	"1"	""	"00085"	"{PMID:Richards et al., 1992:1370809}"	""	""	""	""	""	"0"	""	""	""	""
"00318976"	""	""	""	"1"	""	"00085"	"{PMID:Bergeron et al., 2014:24758138}"	""	""	""	""	""	"0"	""	""	""	""
"00318977"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318978"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318979"	""	""	""	"1"	""	"00736"	""	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00318980"	""	""	""	"1"	""	"00085"	"{PMID:Lund, 2005:16513057}"	"The patient\'s variant is incorrectly recorded in the paper as c2510G>A. The actual variant details have been confirmed with the author."	""	""	""	""	"0"	""	""	""	"P5"
"00318981"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318982"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318983"	""	""	""	"1"	""	"01233"	"{PMID:Overwater 2018:29907982}"	"The technique used was the custom NGS Gene panel."	""	""	"Netherlands"	""	"0"	""	""	""	"Pat73"
"00318984"	""	""	""	"1"	""	"00085"	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318985"	""	""	""	"1"	""	"00085"	"{PMID:Sadakata et al., 2010:20720362}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00318986"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318987"	""	""	""	"1"	""	"00085"	"{PMID:van Bon et al., 2009:18804950}"	""	""	""	""	""	"0"	""	""	""	""
"00318988"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 34, Male, 22y, no event"	""	""	""	""	"0"	""	""	""	""
"00318989"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318990"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Case Patient 106 in {PMID30919682:Henneton et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00318991"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318992"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"Vascular EDS with sigmoid colon rupture. Original study number ID 483."	""	""	""	""	"0"	""	""	"white"	""
"00318993"	""	""	""	"1"	""	"00085"	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	""	""	"0"	""	""	""	"Patient 102"
"00318994"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00318995"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00318996"	""	""	""	"1"	""	"00465"	""	"The patient died after surgery. The father also died."	""	""	"Spain"	""	"0"	""	""	"white"	""
"00318997"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID9399899:Schwarze et al., 1997} as patient 93-711 and also included in the study by {PMID:Pepin et al., 2000:10706896}. Results in skipping of exon 37."	""	""	""	""	"0"	""	""	""	""
"00318998"	""	""	""	"1"	""	"00085"	"{PMID:Richards et al., 1994:7849722}"	"This pateint was subsequently described as Patient 19 by {PMID8881656:Pope et al., 1996}."	""	""	""	""	"0"	""	""	""	""
"00318999"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319000"	""	""	""	"1"	""	"00085"	"{PMID:Richards et al., 1994:7849722}"	"This pateint was subsequently described as Patient 18 by {PMID8881656:Pope et al., 1996}."	""	""	""	""	"0"	""	""	""	""
"00319001"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319002"	""	""	""	"1"	""	"00465"	""	"Family history of sudden death (mother and brother)"	""	""	"Spain"	""	"0"	""	""	"white"	""
"00319003"	""	""	""	"1"	""	"03704"	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID21637106:Leistritz et al., 2011} as Family 17.The variant shifts the splice acceptor site by 1 nt into exon 38, resulting in a frameshift."	""	""	""	""	"0"	""	""	""	""
"00319004"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319005"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319006"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only mother tested nl"	""	""	""	""	"0"	""	""	""	""
"00319007"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"Vascular EDS with Popliteal artery rupture & hypermobility. Original study ID 37."	""	""	""	""	"0"	""	""	"white"	""
"00319008"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	"P008"
"00319009"	""	""	""	"1"	""	"00085"	"{PMID:Müller et al., 2012:22038052}"	"This patient\'s variant was used as a control for the design of allele-specific siRNA knockdown."	""	""	""	""	"0"	""	""	""	""
"00319010"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319011"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"mother mosaic"	""	""	""	""	"0"	""	""	""	""
"00319012"	""	""	""	"1"	""	"00085"	"{PMID:Drera et al., 2011:22019127}"	"The variant results in the skipping of exon 38."	""	""	""	""	"0"	""	""	""	"P.13"
"00319013"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID9399899:Schwarze et al., 1997} as patient 93-344 and also included in the study by {PMID:Pepin et al., 2000:10706896}. Results in skipping of exon 38."	""	""	""	""	"0"	""	""	""	""
"00319014"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID9399899:Schwarze et al., 1997} as patient 94-328 and also included in the study by {PMID:Pepin et al., 2000:10706896}. Results in skipping of exon 38."	""	""	""	""	"0"	""	""	""	""
"00319015"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novoThe end points of the deletion that removes exons 39 to 45 have not been defined."	""	""	""	""	"0"	""	""	""	""
"00319016"	""	""	""	"1"	""	"00085"	"{PMID:Kathiravel et al., 2012:23142374}"	"The patient also harbours a c.848C>G variant in the SLC2A10 gene. The authors speculate that both variants are required to produce the disease phenotype.The technique used was oligonucleotide-based resequencing (OBR)."	""	""	""	""	"0"	""	""	""	""
"00319017"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319018"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319019"	""	""	""	"1"	""	"00085"	"{PMID:Henneton et al., 2019:30919682}"	"This patient has a relative who also carries the same variant in {PMID30919682:Henneton et al., 2019}. They are also described in {PMID30474650:Legrand et al., 2019} and are related to Patient 138 in  {PMID30999998:Frank et al., 2019}."	""	""	""	""	"0"	""	""	""	"Patient 478"
"00319020"	""	""	""	"1"	""	"03704"	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID21637106:Leistritz et al., 2011} as Family 11.This variant results in the use of a cryptic splice donor site 54 nt downstream in intron 39. A premature stop codon (TGA) is created within the insertion leading to RNA decay."	""	""	""	""	"0"	""	""	""	""
"00319021"	""	""	""	"1"	""	"00736"	"{PMID:Ferré et al., 2012:22492385}"	"This individual is identified as Patient 16 by {PMID22492385:Ferré et al., 2012} and was subsequently described by {PMID25758994:Frank et al., 2015}. This patient was then described as Index Patient 17 (49M) in {PMID30919682:Henneton et al., 2019}, with a relative who carries the same variant. This patient was described as Patient 63 in {PMID30999998:Frank et al., 2019} and also described in  {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00319022"	""	""	""	"1"	""	"00085"	"{PMID:Watanabe et al., 2002:11843319}"	""	""	""	""	""	"0"	""	""	""	""
"00319023"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"affected sib"	""	""	""	""	"0"	""	""	""	""
"00319024"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 230 (33F) in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 65 in {PMID30999998:Frank et al., 2019} and also described in  {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00319025"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319026"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319027"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319028"	""	""	""	"1"	""	"00085"	"{PMID:Pope et al., 1996:8881656}"	""	""	""	""	""	"0"	""	""	""	"Patient 12"
"00319029"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319030"	""	""	""	"1"	""	"00085"	"{PMID:Johnson et al., 1995:8680408}"	"It appears that this patient is presented again as Patient 11 in {PMID8881656:Pope et al., 1996} though the substituting amino acid is mistakenly given as Glu rather than Asp."	""	""	""	""	"0"	""	""	""	""
"00319031"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319032"	""	""	""	"1"	""	"00085"	"{PMID:Girardin et al., 2013:23567233}"	"The DNA-level variant has been confirmed by the authors."	""	""	""	""	"0"	""	""	""	""
"00319033"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Case Patient 308 in {PMID30919682:Henneton et al., 2019}, with a relative who carries the same variant. This patient was described as Patient 67 in {PMID30999998:Frank et al., 2019} and also described in  {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00319034"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319035"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Case Patient 160 in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 68 in {PMID30999998:Frank et al., 2019} and also described in  {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00319036"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319037"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319038"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Case Patient 250 in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 69 in {PMID30999998:Frank et al., 2019} and also described in  {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00319039"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only mother tested nl"	""	""	""	""	"0"	""	""	""	""
"00319040"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only mother tested nl"	""	""	""	""	"0"	""	""	""	""
"00319041"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319042"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only father tested nl"	""	""	""	""	"0"	""	""	""	""
"00319043"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319044"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"Vascular EDS with spontaneous colon perforation. Originally identified as ID 76."	""	""	""	""	"0"	""	""	"white"	""
"00319045"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319046"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319047"	""	""	""	"1"	""	"00085"	"{PMID:Pickup and Pollanen, 2010:21086191}"	"The patient had acute mesenteric artery dissection with intestinal infarction."	""	""	""	""	"0"	""	""	""	""
"00319048"	""	""	""	"1"	""	"00085"	"{PMID:Drera et al., 2011:22019127}"	""	""	""	""	""	"0"	""	""	""	"P.15"
"00319049"	""	""	""	"1"	""	"00085"	"De Paepe et al., 1993 Am J Hum Genet 53(s3): 1150"	"The abstract states that the patient has a G to T transversion resulting in the glycine to serine substitution. However, a G to A transition is required for this change."	""	""	""	""	"0"	""	""	""	""
"00319050"	""	""	""	"1"	""	"03704"	"{PMID:Smith et al., 1997:9036918} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID9036918:Smith et al., 1997} as sample 8 and also included in the study by {PMID:Pepin et al., 2000:10706896}."	""	""	""	""	"0"	""	""	""	""
"00319051"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was described as Patient 70 in {PMID30999998:Frank et al., 2019} and also described in  {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00319052"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319053"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319054"	""	""	""	"1"	""	"00085"	"{PMID:Johnson et al., 1995:8680408}"	"This patient is also referred to as patient 10 in {PMID8881656:Pope et al., 1996} though the legacy description of the variant is incorrectly reported as Gly722Asp."	""	""	""	""	"0"	""	""	""	""
"00319055"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 22, Female, 17y, both arterial and bowel events"	""	""	""	""	"0"	""	""	""	""
"00319056"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"Vascular EDS with spontaneous intra-abdominal haemorrhage. Original study number ID 733."	""	""	""	""	"0"	""	""	"white"	""
"00319057"	""	""	""	"1"	""	"03704"	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID21637106:Leistritz et al., 2011} as Family 12.This variant results in the use of a cryptic splice donor site 4 nt downstream in intron 40 resulting in a frameshift."	""	""	""	""	"0"	""	""	""	""
"00319058"	""	""	""	"1"	""	"00085"	"{PMID:Li et al., 2016:27975164}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00319059"	""	""	""	"1"	""	"03704"	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID21637106:Leistritz et al., 2011} as patient Family 18.The variant shifts the splice acceptor site by 1 nt into exon 41, resulting in a frameshift and a PTC in exon 49."	""	""	""	""	"0"	""	""	""	""
"00319060"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 37, Male, 39y, arterial event"	""	""	""	""	"0"	""	""	""	""
"00319061"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319062"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319063"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319064"	""	""	""	"1"	""	"03704"	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID:Kerwin et al., 2008:18043893} as patient 04-401."	""	""	""	""	"0"	""	""	""	""
"00319065"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319066"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319067"	""	""	""	"1"	""	"01233"	"{PMID:Overwater 2018:29907982}"	"The technique used was the custom NGS Gene panel."	""	""	"Netherlands"	""	"0"	""	""	""	"Pat74"
"00319068"	""	""	""	"1"	""	"00085"	"{PMID:Tromp et al., 1989:2492273}, {PMID:Stolle 1985:2981879}"	"This is probably the first published account of a pathogenic COL3A1 sequence variant. This individual had previously been shown to have a type III collagen defect."	""	""	""	""	"0"	""	""	""	"-"
"00319069"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 467 (19M) in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 71 in {PMID30999998:Frank et al., 2019} and also described in  {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00319070"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319071"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only mother tested nl"	""	""	""	""	"0"	""	""	""	""
"00319072"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00319073"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319074"	""	""	""	"1"	""	"00085"	"{PMID:Tromp et al., 1995:7749417}"	""	""	""	""	""	"0"	""	""	""	""
"00319075"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319076"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319077"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319078"	""	""	""	"1"	""	"00085"	"{PMID:Abrahamsen et al., 2015:25940258}"	""	""	""	""	""	"0"	""	""	""	""
"00319079"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319080"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319081"	""	""	""	"1"	""	"00085"	"{PMID:Drera et al., 2011:22019127}"	""	""	""	""	""	"0"	""	""	""	"P.16"
"00319082"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319083"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00319084"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00319085"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00319086"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319087"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319088"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00319089"	""	""	""	"1"	""	"00085"	"{PMID:Singh et al., 2012:22226700}"	"The patient presented with a femoral artery dissection."	""	""	""	""	"0"	""	""	""	""
"00319090"	""	""	""	"1"	""	"03704"	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	"This patient was identified as Subject 05-0971 by {PMID:Kerwin et al., 2008:18043893}."	""	""	""	""	"0"	""	""	""	""
"00319091"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00319092"	""	""	""	"1"	""	"00085"	"{PMID:Kaadan et al., 2018:29650765}"	""	""	""	""	""	"0"	""	""	""	""
"00319093"	""	""	""	"1"	""	"00085"	"{PMID:Shimaoka et al. 2010:20518783}"	"The description of the variant is incorrect at the cDNA level and the details are being checked with the author."	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00319094"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID9399899:Schwarze et al., 1997} as patient 94-326.Results in skipping of exon 41."	""	""	""	""	"0"	""	""	""	""
"00319095"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID9399899:Schwarze et al., 1997} as patient 94-771.Results in skipping of exon 41."	""	""	""	""	"0"	""	""	""	""
"00319096"	""	""	""	"1"	""	"00085"	"{PMID:Cole et al., 1990:2145268}"	"The technique used was S1 nuclease."	""	""	""	""	"0"	""	""	""	""
"00319097"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00319098"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00319099"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319100"	""	""	""	"1"	""	"03705"	""	""	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319101"	""	""	""	"1"	""	"00085"	"{PMID:Sillence et al., 1991:1757960}"	"This is likely a de novo variant as the parents do not carry the variant. The variant results in skipping of exon 41."	""	""	""	""	"0"	""	""	""	""
"00319102"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 328 (15F) in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 124 in {PMID30999998:Frank et al., 2019} and was also described in  {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00319103"	""	""	""	"1"	""	"00085"	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00319104"	""	""	""	"1"	""	"00085"	"{PMID:Gu et al., 2018:29216800}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00319105"	""	""	""	"1"	""	"00085"	"{PMID:Demirogullari et al., 2006:16863833}"	"The paper describes the substituted amino acid using only legacy numbering."	""	""	""	""	"0"	""	""	""	""
"00319106"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319107"	""	""	""	"1"	""	"03704"	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID21637106:Leistritz et al., 2011} as Family 13."	""	""	""	""	"0"	""	""	""	""
"00319108"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00319109"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	""	""	""	""	""	"0"	""	""	""	""
"00319110"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319111"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319112"	""	""	""	"1"	""	"00085"	"{PMID:Deng et al., 2015:25776230}"	""	""	""	""	""	"0"	""	""	""	""
"00319113"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	"The DNA-level variant description is incorrectly described as c.2950_51GG>AC by {PMID24922459:Pepin et al., 2014}."	""	""	""	""	"0"	""	""	""	""
"00319114"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 170 (29M) in {PMID30919682:Henneton et al., 2019}, with a relative who carries the same variant. This patient was described as Patient 72 in {PMID30999998:Frank et al., 2019} and was also described in  {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00319115"	""	""	""	"1"	""	"00085"	"{PMID:Chan et al., 2008:18272325}"	"This is a non-pathogenic variant."	""	""	""	""	"0"	""	""	""	""
"00319116"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Case Patient 129 in {PMID30919682:Henneton et al., 2019}, with two other relatives that carried the same variant, and was also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00319117"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319118"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00319119"	""	""	""	"1"	""	"00085"	"{PMID:Lan et al., 2018:29778910}"	"The patient also had symptoms of LVNC. This was thought to be caused by abnormal collagen as a result of the sequence variant in COL3A1, given the rarity of LVNC and vEDS. The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00319120"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 351 (39M) in {PMID30919682:Henneton et al., 2019}, with two relatives who also carry the same variant. This patient was described as Patient 74 in {PMID30999998:Frank et al., 2019} and was also described in {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00319121"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00319122"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319123"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00319124"	""	""	""	"1"	""	"00085"	"{PMID:Drera et al., 2011:22019127}"	""	""	""	""	""	"0"	""	""	""	"P.17"
"00319125"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319126"	""	""	""	"1"	""	"00085"	"{PMID:Jansen et al., 2001:11359405}"	""	""	""	""	""	"0"	""	""	""	""
"00319127"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00319128"	""	""	""	"1"	""	"00085"	"{PMID:Naing et al., 2011:21219851}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00319129"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319130"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319131"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00319132"	""	""	""	"1"	""	"00085"	"{PMID:Sa et al., 2012:23052746}"	""	""	""	""	""	"0"	""	""	""	""
"00319133"	""	""	""	"1"	""	"00085"	"{PMID:Ruggeri et al., 2015:26029576}"	"The patient, who is a monozygotic twin, first presented with bullous emphysema."	""	""	""	""	"0"	""	""	""	""
"00319134"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319135"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319136"	""	""	""	"1"	""	"00085"	"{PMID:Kuivaniemi et al., 1990:2365710}"	"The technique used was S1 nuclease."	""	""	""	""	"0"	""	""	""	"Proband III"
"00319137"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 35, Female, 13y, both arterial and bowel events"	""	""	""	""	"0"	""	""	""	""
"00319138"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID9399899:Schwarze et al., 1997} as patient 94-722 and also included in the study by {PMID:Pepin et al., 2000:10706896}. The splice donor site variant causes activation of a new donor site 30 nt downstream resulting in the in-frame insertion of 10 amino acids (MSSSFYSTSQ)."	""	""	""	""	"0"	""	""	""	""
"00319139"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	"The splice donor site variant causes activation of a new donor site 30 nt downstream resulting in the in-frame insertion of 10 amino acids (MSSSFYSTSQ)."	""	""	""	""	"0"	""	""	""	""
"00319140"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00319141"	""	""	""	"1"	""	"00085"	"{PMID:Okita et al., 2009:19543901}"	"The variant results in activation of a cryptic splice site in intron 42 and retention of the first 30 bases on the intron that are translated into 10 amino acids. The variant was originally described as g.31090G>A but the accession number of the reference sequence is not specified. The correct description is g.36090G>A."	""	""	""	""	"0"	""	""	""	""
"00319142"	""	""	""	"1"	""	"00085"	"{PMID:Shimaoka et al. 2010:20518783}"	"A cryptic splice site is utilised at c.3039+31_3039+36 which results in the insertion of 10 amino acids (VNSSFYSTSQ) into the protein chain."	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00319143"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Patient 192 in {PMID30919682:Henneton et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00319144"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319145"	""	""	""	"1"	""	"00085"	"{PMID:Giunta and Steinmann, 2000:10923041}"	"The variant results in activation of a cryptic splice site in intron 42 and retention of the first 30 bases of the intron that are translated into 10 amino acids. The variant was originally described as c.3141+5G>C but that mixes current nomeclature with old cDNA coordinates."	""	""	""	""	"0"	""	""	""	"P9"
"00319146"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319147"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319148"	""	""	""	"1"	""	"00085"	"{PMID:Richards et al., 1992:1352273}"	"The proband has been descibed previously by {PMID3204406:Fox et al., 1988}. His maternal grandmother is mosaic for the variant."	""	""	""	""	"0"	""	""	""	""
"00319149"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319150"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00319151"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00319152"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319153"	""	""	""	"1"	""	"00736"	""	""	""	""	""	""	"0"	""	""	""	""
"00319154"	""	""	""	"1"	""	"03704"	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID21637106:Leistritz et al., 2011} as Family 14."	""	""	""	""	"0"	""	""	""	""
"00319155"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 1, Male, 51y. Arterial event. The son, Patient 2 (AN_002802), two sisters, Patients 3 & 4 (AN_002803 and AN_002804), and nephew, Patient 5 (AN_002805), are mutation carriers."	""	""	""	""	"0"	""	""	""	""
"00319156"	""	""	""	"1"	""	"00085"	"{PMID:Pope et al., 1996:8881656}"	""	""	""	""	""	"0"	""	""	""	"Patient 16"
"00319157"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID9399899:Schwarze et al., 1997} as patient 91-341 and also included in the study by {PMID:Pepin et al., 2000:10706896}."	""	""	""	""	"0"	""	""	""	""
"00319158"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID9399899:Schwarze et al., 1997} as patient 93-487 and also included in the study by {PMID:Pepin et al., 2000:10706896}."	""	""	""	""	"0"	""	""	""	""
"00319159"	""	""	""	"1"	""	"00085"	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00319160"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 36, Female, 23y, arterial event"	""	""	""	""	"0"	""	""	""	""
"00319161"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	"Results in skipping of exon 43."	""	""	""	""	"0"	""	""	""	""
"00319162"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00319163"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only mother tested nl"	""	""	""	""	"0"	""	""	""	""
"00319164"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319165"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319166"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00319167"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 295 (33M) in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 79 in {PMID30999998:Frank et al., 2019} and was also described in  {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00319168"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 322 (34F) in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 80 in {PMID30999998:Frank et al., 2019} and was also described in  {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00319169"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319170"	""	""	""	"1"	""	"00085"	"{PMID:Kiss et al., 2017:29725758}"	"The patient\'s mother, sister (described as Patient 2 in the paper), and nephew all have the variant, which has co-segregated with similar vEDS phenotype."	""	""	""	""	"0"	""	""	""	"Patient 3"
"00319171"	""	""	""	"1"	""	"00085"	"{PMID:Nishiyama et al., 2001:11168790}"	""	""	""	""	""	"0"	""	""	""	""
"00319172"	""	""	""	"1"	""	"00085"	"{PMID:Sakai et al., 2011:22001912}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00319173"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319174"	""	""	""	"1"	""	"00085"	"{PMID:Cortini et al., 2017:28183226}"	"The technique used was the custom NGS Gene panel."	""	""	"Italy"	""	"0"	""	""	"Italian"	"III.3"
"00319175"	""	""	""	"1"	""	"00085"	"{PMID:Tromp et al., 1989:2808425}"	""	""	""	""	""	"0"	""	""	""	""
"00319176"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319177"	""	""	""	"1"	""	"00085"	"{PMID:Palmeri et al., 2003:12786757}"	""	""	""	""	""	"0"	""	""	""	""
"00319178"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319179"	""	""	""	"1"	""	"00085"	"{PMID:Ananth et al., 2014:25149929}"	"The pateint presented with neurological symptoms suggestive of a peripheral neuropathy.The protein-level description of the variant is incorrect in the published abstract."	""	""	""	""	"0"	""	""	""	""
"00319180"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 516 (41M) in {PMID30919682:Henneton et al., 2019}, with six other relatives who carried the same variant. This patient was described as Patient 81 in {PMID30999998:Frank et al., 2019} and also described in  {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00319181"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319182"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319183"	""	""	""	"1"	""	"00085"	"{PMID:Sakai et al., 2019:31391389}"	""	""	""	""	""	"0"	""	""	""	""
"00319184"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319185"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319186"	""	""	""	"1"	""	"00085"	"{PMID:Komem et al., 2019:31339471}"	"The patient had spontaneous, extensive, dissections in 7 arteries. However, the patient\'s mother and 4 siblings were found to be homozygous for the same variant and were healthy with no history of vascular pathologies. It is probable that this variant is not pathogenic."	""	""	""	""	"0"	""	""	""	""
"00319187"	""	""	""	"1"	""	"00085"	"{PMID:Shalhub et al., 2019:30793832}"	"Described as a 29F who developed arterial/intestinal pathology at 29 years of age in {PMID30793832:Shalhub et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00319188"	""	""	""	"1"	""	"00085"	"{PMID:Shalhub et al., 2014:24650746}"	"Described as a 28 year old female who died due to presumed iliac artery rupture in {PMID24650746:Shalhub et al., 2014}."	""	""	""	""	"0"	""	""	""	""
"00319189"	""	""	""	"1"	""	"00085"	"{PMID:Giunta and Steinmann, 2000:10923041}"	"The technique used was ribonuclease T1 analysis (RNaseT1)."	""	""	""	""	"0"	""	""	""	"P10"
"00319190"	""	""	""	"1"	""	"00085"	"{PMID:Burk et al., 2007:17224388}"	""	""	""	""	""	"0"	""	""	""	""
"00319191"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00319192"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319193"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319194"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319195"	""	""	""	"1"	""	"01233"	"{PMID:Overwater 2018:29907982}"	"The technique used was the custom NGS Gene panel."	"M"	""	"Netherlands"	""	"0"	""	""	""	"Pat13"
"00319196"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"only mother tested nl  affected sib"	""	""	""	""	"0"	""	""	""	""
"00319197"	""	""	""	"1"	""	"00085"	"{PMID:Yang et al., 2007:17728513}"	""	""	""	""	""	"0"	""	""	""	"Patient 2"
"00319198"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319199"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319200"	""	""	""	"1"	""	"00085"	"{PMID:Richards et al., 1991:1895316}"	""	""	""	""	""	"0"	""	""	""	""
"00319201"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319202"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"affected sib (twin)"	""	""	""	""	"0"	""	""	""	""
"00319203"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	""	""	""	""	""	"0"	""	""	""	""
"00319204"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID9399899:Schwarze et al., 1997} as patient 91-062, by {PMID9036918:Smith et al., 1997} as sample 20 and also included in the study by {PMID:Pepin et al., 2000:10706896}.Results in skipping of exon 45."	""	""	""	""	"0"	""	""	""	""
"00319205"	""	""	""	"1"	""	"00085"	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00319206"	""	""	""	"1"	""	"00085"	"{PMID:Schwarze et al., 1997:9399899}"	""	""	""	""	""	"0"	""	""	""	""
"00319207"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	""	""	""	""	""	"0"	""	""	""	""
"00319208"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319209"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319210"	""	""	""	"1"	""	"00085"	"{PMID:Rana et al., 2011:21699676}"	"The variant is reported as being in exon 45, but is in fact in exon 46. In addition, the altered amino acid is described as being at position 1086 of the triple-helix domain. It\'s at position 1086 of the primary translation product, and at position 919 of the triple-helix domain."	""	""	""	""	"0"	""	""	"white"	""
"00319211"	""	""	""	"1"	""	"00085"	"{PMID:Olson et al., 2019:31394236}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00319212"	""	""	""	"1"	""	"00085"	"{PMID:Olson et al., 2019:31394236}"	"The authors hypothesize that this variant results in COL3A1 haploinsufficiency contributing to a less severe form of vEDS due to the lack of minor EDS characteristics and vessel or hollow organ rupture.  The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00319213"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319214"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319215"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319216"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00319217"	""	""	""	"1"	""	"00085"	"{PMID:Giunta and Steinmann, 2000:10923041}"	"The patient\'s variant was originally described as c.3395G>A but that mixes current nomeclature with old cDNA coordinates.The technique used was ribonuclease T1 analysis (RNaseT1)."	""	""	""	""	"0"	""	""	""	"P11"
"00319218"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319219"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319220"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319221"	""	""	""	"1"	""	"00085"	"{PMID:McGrory et al., 1996:9147870}"	""	""	""	""	""	"0"	""	""	""	""
"00319222"	""	""	""	"1"	""	"00085"	"Goldstein et al., 1994 Matrix Biol 14:392-393"	""	""	""	""	""	"0"	""	""	""	""
"00319223"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319224"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319225"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"parent confirmed"	""	""	""	""	"0"	""	""	""	""
"00319226"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319227"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID9399899:Schwarze et al., 1997} as patient 92-011 and also included in the study by {PMID:Pepin et al., 2000:10706896}.Results in skipping of exon 47."	""	""	""	""	"0"	""	""	""	""
"00319228"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319229"	""	""	""	"1"	""	"00736"	"{PMID:Ferré et al., 2012:22492385}"	"This patient was subsequently described as Index Patient 198 (16F) in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 125 in {PMID30999998:Frank et al., 2019} and was also described in  {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	"Patient 8"
"00319230"	""	""	""	"1"	""	"00736"	""	""	""	""	""	""	"0"	""	""	""	""
"00319231"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00319232"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319233"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319234"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319235"	""	""	""	"1"	""	"00085"	"{PMID:Campens et al., 2015:25644172}"	"The patient has a non-syndromic form of DAD."	""	""	""	""	"0"	""	""	""	""
"00319236"	""	""	""	"1"	""	"00085"	"{PMID:Hamel et al., 1997:9712532}"	"The patient (38M) was born with a clubfoot, and analysis of cultured fibroblasts showed \'retention of overmodified type III collagen\'. The variant was described with a 102 base offset in {PMID9712532:Hamel et al., 1997} as c.3512G>A"	""	""	""	""	"0"	""	""	""	"Patient 9"
"00319237"	""	""	""	"1"	""	"00085"	"{PMID:Drera et al., 2011:22019127}"	"The variant results in the skipping of exon 47"	""	""	""	""	"0"	""	""	""	"P.18"
"00319238"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	"Results in skipping of exon 47."	""	""	""	""	"0"	""	""	""	""
"00319239"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319240"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319241"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319242"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319243"	""	""	""	"1"	""	"00085"	"{PMID:Gudmundsdottir et al., 2012:22647446} {PMID:Pepin et al., 2014:24922459}"	"The variant is presumed to result in the skipping of exon 47."	""	""	"Iceland"	""	"0"	""	""	"Icelandic"	""
"00319244"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was described as Patient 126 in {PMID30999998:Frank et al., 2019} and was also described in  {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00319245"	""	""	""	"1"	""	"00085"	"{PMID:Lund, 2005:16513057}"	""	""	""	""	""	"0"	""	""	""	"P2"
"00319246"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319247"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00319248"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID9399899:Schwarze et al., 1997} as patient 95-229 and also included in the study by {PMID:Pepin et al., 2000:10706896}.The variant results in retention of intron 47 (96 bp) leading to a non-collagenous insertion of 32 amino acids."	""	""	""	""	"0"	""	""	""	""
"00319249"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319250"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319251"	""	""	""	"1"	""	"00085"	"{PMID:Masuno et al., 2012:23181496}"	""	""	""	""	""	"0"	""	""	""	""
"00319252"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"The patient, first described in a poster by Schwarze et al., 2006, is mosaic for two 27-bp deletions in exon 48 with both cell lineages in equal proportion. Each deletion results in a 9 amino acid in-frame deletion.The more 5\' of the two deletions is incorrectly described by {PMID24922459:Pepin et al., 2014} as c.3426-3452del."	""	""	""	""	"0"	""	""	""	""
"00319253"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319254"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 112 (26M) in {PMID30919682:Henneton et al., 2019}, with two relatives who also carried the same variant. This patient was described as Patient 8 in {PMID30999998:Frank et al., 2019} and was also described in  {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00319255"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was described as Patient 87 in {PMID30999998:Frank et al., 2019} and was also described in  {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00319256"	""	""	""	"1"	""	"01233"	"{PMID:Overwater 2018:29907982}"	"The technique used was the custom NGS Gene panel."	"M"	""	"Netherlands"	""	"0"	""	""	""	"Pat14"
"00319257"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"affected sib"	""	""	""	""	"0"	""	""	""	""
"00319258"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"affected sib"	""	""	""	""	"0"	""	""	""	""
"00319259"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00319260"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319261"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319262"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was described as Patient 131 in {PMID30999998:Frank et al., 2019} and was also described in  {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00319263"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319264"	""	""	""	"1"	""	"00736"	""	"This patient was subsequently described as Index Case Patient 293 in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 88 in {PMID30999998:Frank et al., 2019} and was also described in {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00319265"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319266"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319267"	""	""	""	"1"	""	"00085"	"{PMID:Lund, 2005:16513057}"	""	""	""	""	""	"0"	""	""	""	"P1"
"00319268"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319269"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319270"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319271"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00319272"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319273"	""	""	""	"1"	""	"00085"	"{PMID:Qin et al., 2016:26944031}"	"Patient is dscribed as a 3 year-old girl in {PMID26944031:Qin et al., 2016}. Patient\'s mother\'s blood sample was  25% mosaic for the c.3491G>A variant. The variant was not found in the father."	""	""	""	""	"0"	""	""	""	""
"00319274"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319275"	""	""	""	"1"	""	"03704"	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID21637106:Leistritz et al., 2011} as Family 15.The patient harbours a variant of unknown significance (c.3569C>T) on the non-disease-causing COL3A1 allele."	""	""	""	""	"0"	""	""	""	""
"00319276"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319277"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 19, Female, 17y, identified through family history; The daughter, patient 20, AN_002820, female, 12y, arterial event, carries the same mutation."	""	""	""	""	"0"	""	""	""	""
"00319278"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319279"	""	""	""	"1"	""	"00085"	"{PMID:Johnson et al., 1995:8680408}"	""	""	""	""	""	"0"	""	""	""	""
"00319280"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319281"	""	""	""	"1"	""	"00085"	"{PMID:Drera et al., 2011:22019127}"	""	""	""	""	""	"0"	""	""	""	"P.19"
"00319282"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319283"	""	""	""	"1"	""	"00085"	"{PMID:Busch et al., 2016:27488172}"	"Patient is a 45 year old female. The patient\'s mother and sister both had lethal internal bleeding."	""	""	""	""	"0"	""	""	""	"Patient 2"
"00319284"	""	""	""	"1"	""	"00085"	"{PMID:Johnson et al., 1995:8680408}"	""	""	""	""	""	"0"	""	""	""	""
"00319285"	""	""	""	"1"	""	"00085"	"{PMID:Mackay et al., 1996:8884076}"	""	""	""	""	""	"0"	""	""	""	""
"00319286"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319287"	""	""	""	"1"	""	"00085"	"{PMID:Lund, 2005:16513057}"	"The variant in this patient is described incorrectly at the amino acid level as a glycine to asparagine substitution. The correct details have been confirmed with the author."	""	""	""	""	"0"	""	""	""	"P4"
"00319288"	""	""	""	"1"	""	"00085"	"{PMID:Drera et al., 2011:22019127}"	""	""	""	""	""	"0"	""	""	""	"P.20"
"00319289"	""	""	""	"1"	""	"00085"	"{PMID:Drera et al., 2011:22019127}"	""	""	""	""	""	"0"	""	""	""	"P.21"
"00319290"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 241 (22F) in {PMID30919682:Henneton et al., 2019} and was also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00319291"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319292"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as the proband (II.1) in Family 6 by {PMID30837697:Ghali et al., 2019}. This patient was subsequently described as Index Case Patient 257 in {PMID30919682:Henneton et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00319293"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"This patient was originally identified as ID 49 by the authors. The patient was subsequently described as a member of Family 2 by {PMID30837697:Ghali et al., 2019}."	""	""	""	""	"0"	""	""	"white"	""
"00319294"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319295"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00319296"	""	""	""	"1"	""	"00085"	"{PMID:Jansen et al., 2000:10819545}"	""	""	""	""	""	"0"	""	""	""	""
"00319297"	""	""	""	"1"	""	"00085"	"{PMID:Johnson et al., 1992:1357232}"	"This patient was described previously by {PMID6477831:Roberts et al., 1984} and subsequently as patient MH by {PMID8680408:Johnson et al., 1995}."	""	""	""	""	"0"	""	""	""	""
"00319298"	""	""	""	"1"	""	"00085"	"{PMID:Giunta and Steinmann, 2000:10923041}"	"The patient\'s variant was originally described as c.3620G>A but that mixes current nomeclature with old cDNA coordinates.The technique used was ribonuclease T1 analysis (RNaseT1)."	""	""	""	""	"0"	""	""	""	"P12"
"00319299"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319300"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319301"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"Original study ID 443."	""	""	""	""	"0"	""	""	"white"	""
"00319302"	""	""	""	"1"	""	"00085"	"Leroy et al., 1993 Am J Hum Genet 53(Suppl): abstract 1735"	""	""	""	""	""	"0"	""	""	""	""
"00319303"	""	""	""	"1"	""	"00085"	"{PMID:Morais et al., 2011:21549076}"	""	""	""	""	""	"0"	""	""	""	""
"00319304"	""	""	""	"1"	""	"00085"	"{PMID:Nuytinck et al., 1994:8019562}"	""	""	""	""	""	"0"	""	""	""	""
"00319305"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00319306"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00319307"	""	""	""	"1"	""	"03704"	"{PMID:Smith et al., 1997:9036918} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID9036918:Smith et al., 1997} as Sample 9 and also included in the study by {PMID:Pepin et al., 2000:10706896}."	""	""	""	""	"0"	""	""	""	""
"00319308"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	"P005"
"00319309"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319310"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319311"	""	""	""	"1"	""	"00085"	"{PMID:Busch et al., 2016:27488172}"	"The patient was a 50 year-old male."	""	""	""	""	"0"	""	""	""	"Patient 20"
"00319312"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 398 (36F) in {PMID30919682:Henneton et al., 2019}. This patient was described as Patient 89 in {PMID30999998:Frank et al., 2019} and was also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00319313"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319314"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 29, Female, 26y, both arterial and bowel events"	""	""	""	""	"0"	""	""	""	""
"00319315"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319316"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00319317"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319318"	""	""	""	"1"	""	"00085"	"{PMID:Kontusaari et al., 1992:1496983}"	"The patient\'s mother is asymptomatic and mosaic for the variant."	""	""	""	""	"0"	""	""	""	""
"00319319"	""	""	""	"1"	""	"00085"	"{PMID:Pope et al., 1996:8881656}"	"This patient\'s variant is described as being a glycine to arginine substitution in Table 1 of Pope et al., 1996, but the data in Figure 3b are consistent with glycine to aspartate."	""	""	""	""	"0"	""	""	""	"Patient 3"
"00319320"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	"P003"
"00319321"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319322"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319323"	""	""	""	"1"	""	"03704"	"{PMID:Smith et al., 1997:9036918} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID9036918:Smith et al., 1997} as Sample 10."	""	""	""	""	"0"	""	""	""	""
"00319324"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319325"	""	""	""	"1"	""	"00085"	"{PMID:Pope et al., 1996:8881656}"	""	""	""	""	""	"0"	""	""	""	"Patient 2"
"00319326"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	"The patient is a member of Family 53. This patient was subsequently described as Index Case Patient 108 (26F) in {PMID30919682:Henneton et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00319327"	""	""	""	"1"	""	"00085"	"{PMID:Narcisi et al., 1993:8098182}"	"This patient was subsequently described as patient DF in {PMID8680408:Johnson et al., 1995}. It is possible that this patient is also described as Patient 1 in {PMID8881656:Pope et al., 1996}."	""	""	""	""	"0"	""	""	""	""
"00319328"	""	""	""	"1"	""	"03704"	"{PMID:Smith et al., 1997:9036918} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID9036918:Smith et al., 1997} as Sample 11."	""	""	""	""	"0"	""	""	""	""
"00319329"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319330"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 27, Female, 10y, no arterial or bowel event"	""	""	""	""	"0"	""	""	""	""
"00319331"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319332"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319333"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319334"	""	""	""	"1"	""	"00085"	"{PMID:Drera et al., 2011:22019127}"	""	""	""	""	""	"0"	""	""	""	"P.22"
"00319335"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319336"	""	""	""	"1"	""	"03704"	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID21637106:Leistritz et al., 2011} as Family 16."	""	""	""	""	"0"	""	""	""	""
"00319337"	""	""	""	"1"	""	"00085"	"{PMID:Renner et al., 2019:30675029}"	"This is a variant of unknown significance as classified by ACMG/AMP guidelines. Patient has a family history of thoracic aortic aneurysm and dissection, and another variant of unknown significance c.2625+10G>C in COL2A1. The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	"Patient 139"
"00319338"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	""	""	""	""	""	"0"	""	""	""	""
"00319339"	""	""	""	"1"	""	"00085"	"{PMID:Chan et al., 2008:18272325}"	"This is a non-pathogenic variant."	""	""	""	""	"0"	""	""	""	""
"00319340"	""	""	""	"1"	""	"00085"	"{PMID:Chan et al., 2008:18272325}"	"This is a non-pathogenic variant."	""	""	""	""	"0"	""	""	""	""
"00319341"	""	""	""	"1"	""	"00085"	"{PMID:Haller et al., 2015:26333736}"	"The variant in this patient is described as being of unknown significance.The technique used was the custom exome panel."	""	""	""	""	"0"	""	""	""	""
"00319342"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Patient 371 in {PMID30919682:Henneton et al., 2019}, with four other relatives carrying the same variant, and was also described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00319343"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00319344"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	""	""	""	""	""	"0"	""	""	""	""
"00319345"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Case Patient 447 in {PMID30919682:Henneton et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00319346"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2017:28035354}"	"The patient presented with abdominal aortic rupture and tissue fragility was noted in surgery.The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00319347"	""	""	""	"1"	""	"00736"	""	""	""	""	""	""	"0"	""	""	""	""
"00319348"	""	""	""	"1"	""	"00085"	"{PMID:Sakai et al., 2011:22001912}"	"The technique used was the custom NGS Gene panel."	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00319349"	""	""	""	"1"	""	"00085"	"{PMID:Yang et al., 2016:27611364}"	"The variant was originally classified as a variant of unknown significance but then classified as benign due to family segregation. The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00319350"	""	""	""	"1"	""	"00085"	""	""	""	""	""	""	"0"	""	""	""	""
"00319351"	""	""	""	"1"	""	"00085"	"{PMID:Hicks et al., 2018:29510914}"	"Variant of Unknown Significance"	""	""	""	""	"0"	""	""	""	""
"00319352"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	""	""	""	""	""	"0"	""	""	""	""
"00319353"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	""	""	""	""	""	"0"	""	""	""	""
"00319354"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	""	""	""	""	""	"0"	""	""	""	""
"00319355"	""	""	""	"1"	""	"00085"	"{PMID:Adham et al., 2019:31531849}"	"The proband and his sister (II-1) both carried the COL3A1 variant, but it is probably not pathogenic as it does not co-segregate with the cEDS phenotype of the mother. The pathogenic variant was evidenced in COL1A1 (c.934C>T)"	""	""	""	""	"0"	""	""	""	"II-3"
"00319356"	""	""	""	"1"	""	"00085"	"{PMID:Schubert 2016:26854089}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat10"
"00319357"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 290 in {PMID30919682:Henneton et al., 2019}, with another relative carrying the same variant. In the paper, the variant is described as causing haplo-insufficiency. This patient was described as Patient 144 in {PMID30999998:Frank et al., 2019} and was also described in {PMID30474650:Legrand et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00319358"	""	""	""	"1"	""	"03704"	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID21637106:Leistritz et al., 2011} as Family 19 and subsequently by {PMID24419773:Desai et al., 2014}."	""	""	""	""	"0"	""	""	""	""
"00319359"	""	""	""	"1"	""	"03704"	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID:Kerwin et al., 2008:18043893} as Subject 05-0215."	""	""	""	""	"0"	""	""	""	""
"00319360"	""	""	""	"1"	""	"00085"	"{PMID:Poninska et al., 2016:27146836}"	"The proband had three relatives that carried the same variant. Two of them met the criteria for TAA, but a third, his daughter, did not. The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	""
"00319361"	""	""	""	"1"	""	"00085"	"{PMID:Pickup and Pollanen, 2010:21086191}"	"The patient died suddenly from traumatic subarachnoid haemorrhage with intracranial vertebral artery rupture."	""	""	""	""	"0"	""	""	""	""
"00319362"	""	""	""	"1"	""	"00736"	""	""	""	""	""	""	"0"	""	""	""	""
"00319363"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	""	""	""	""	""	"0"	""	""	""	""
"00319364"	""	""	""	"1"	""	"00085"	"{PMID:Stembridge et al., 2015:25846194}"	"The patient\'s sister also harbours the same variant but has a milder phenotype. The authors are cautious about assigning pathogenicity to this variant."	""	""	""	""	"0"	""	""	""	"Patient 4"
"00319365"	""	""	""	"1"	""	"03711"	""	"clinically marfanoid hypermobility syndrome, no clinical features of vascular EDS, normal collagen biochemistry (SDS-PAGE) and LM/EM studies. Patient\'s sister also carries the same variant but shows no clinical signs of vascular EDS. Crystallography studies do not support pathogenicity of the observed c-propeptide variant observed in this patient (see Stembridge et al. AJMG 2015)."	""	""	""	""	"0"	""	""	"white"	""
"00319366"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319367"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319368"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described as Index Patient 258 (40M) in {PMID30919682:Henneton et al., 2019}. They have a female relative who carries the same variant. This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00319369"	""	""	""	"1"	""	"01233"	"{PMID:Overwater 2018:29907982}"	"In this patient, a variant of uncertain significance has been identified also in the FBN1 gene.The technique used was the custom NGS Gene panel."	""	""	"Netherlands"	""	"0"	""	""	""	"Pat75"
"00319370"	""	""	""	"1"	""	"00085"	"{PMID:Chan et al., 2008:18272325}"	"This is a non-pathogenic variant."	""	""	""	""	"0"	""	""	""	""
"00319371"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 2014:25326637}"	"The patient is described as having Ehlers-Danlos, Loeys-Dietz, aortic dissection, hypertrophic heart, connective tissue diseaseThe technique used was whole genome sequencing."	""	""	""	""	"0"	""	""	""	""
"00319372"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	"This patient was subsequently described as Index Case Patient 64 (32M) in {PMID30919682:Henneton et al., 2019}"	""	""	""	""	"0"	""	""	""	""
"00319373"	""	""	""	"1"	""	"03708"	""	"All 52 exons of the COL3A1 gene were amplified by PCR and then sequenced using AB1.3730 sequencers"	""	""	""	""	"0"	""	""	"white"	""
"00319374"	""	""	""	"1"	""	"00736"	"{PMID:Frank et al., 2015:25758994}"	"This patient was subsequently described in {PMID30474650:Legrand et al., 2019}."	""	""	""	""	"0"	""	""	""	""
"00319375"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319376"	""	""	""	"1"	""	"00085"	"{PMID:Haller et al., 2015:26333736}"	"The variant in this patient is described as being of unknown significance.The technique used was the custom exome panel."	""	""	""	""	"0"	""	""	""	""
"00319377"	""	""	""	"1"	""	"00085"	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	""	""	"0"	""	""	""	""
"00319378"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	""	""	"0"	""	""	""	""
"00319379"	""	""	""	"1"	""	"03704"	"{PMID:Schwarze et al., 2001:11577371} {PMID:Pepin et al., 2014:24922459}"	"Described by {PMID:Schwarze et al., 2001:11577371} as P4."	""	""	""	""	"0"	""	""	""	""
"00319380"	""	""	""	"1"	""	"00085"	"{PMID:Stembridge et al., 2015:25846194}"	"The patient\'s sister harbours the same variant but has a hypermobile EDS phenotype."	""	""	""	""	"0"	""	""	""	"Patient 2"
"00319381"	""	""	""	"1"	""	"00085"	""	"The only source of this variant is dbSNP and there are no frequency data. This variant may not actually exist."	""	""	""	""	"0"	""	""	""	""
"00319382"	""	""	""	"1"	""	"03707"	"{PMID:Morissette et al., 2014:24399159}"	"Patient 41, Female, 39y, arterial event"	""	""	""	""	"0"	""	""	""	""
"00319383"	""	""	""	"1"	""	"00085"	"{PMID:Stembridge et al., 2015:25846194}"	"The patient\'s father is mosaic for the variant."	""	""	""	""	"0"	""	""	""	"Patient 1"
"00319384"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"Vascular: Typical acrogeric Vascular EDS.  [This patient originally identified by ID 448)"	""	""	""	""	"0"	""	""	"white"	""
"00319385"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 2014:24922459}"	"de novo"	""	""	""	""	"0"	""	""	""	""
"00319386"	""	""	""	"1"	""	"00085"	"{PMID:Stembridge et al., 2015:25846194}"	""	""	""	""	""	"0"	""	""	""	"Patient 3"
"00377101"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"180741"
"00377160"	""	""	""	"1"	""	"00085"	"{PMID:Pimenta et al., 2021:34226255}"	"The patient presented with an aneurysmal subarachnoid haemorrhage."	"F"	"?"	""	""	"0"	""	""	""	""
"00388258"	""	""	""	"1"	""	"00085"	"{PMID:Lindsay et al., 2021:34587390} {DOI:Lindsay et al., 2021:10.1056/NEJMcpc2107347}"	""	"M"	"-"	""	""	"0"	""	""	""	"Case 30-2021"
"00398065"	""	""	""	"1"	""	"01164"	""	""	"M"	"-"	"Germany"	""	"0"	""	""	""	"187971"
"00398130"	""	""	""	"1"	""	"00006"	"{PMID:Overwater 2018:29907982}"	""	""	""	"Netherlands"	""	"0"	""	""	""	"Pat69"
"00402743"	""	""	""	"1"	""	"04256"	"{PMID:Shido 2021:34453356}"	"2-generation family, 1 affected, unaffected parents"	"F"	"?"	"Japan"	""	"0"	""	""	""	"patient"
"00404786"	""	""	""	"1"	""	"04256"	""	""	"M"	""	"Turkey"	""	""	""	""	""	""
"00406453"	""	""	""	"1"	""	"04256"	"{PMID:Nanduri et al., 2020:33586854}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00410008"	""	""	""	"1"	""	"04305"	"{PMID:Yang et al., 2022:35119775}"	""	"F"	"?"	"China"	"24y"	""	""	""	"Han"	"Family2II-1"
"00411136"	""	""	""	"1"	""	"04305"	"{PMID:Colman et al., 2022:35587586}"	""	"F"	"yes"	"Turkey"	""	""	""	""	""	"F8 II-4"
"00411196"	""	""	""	"1"	""	"04305"	"{PMID:Colman et al., 2022:35587586}"	""	"M"	"?"	"Belgium"	""	"0"	""	""	""	"F9 III-2"
"00411451"	""	""	""	"1"	""	"04305"	"{PMID:Colman et al., 2022:35587586}"	""	"F"	"?"	"Belgium"	""	""	""	""	""	"F10 II-2"
"00411452"	""	""	""	"1"	""	"04305"	"{PMID:Colman et al., 2022:35587586}"	""	"M"	"?"	"United States"	"?"	""	""	""	"Native American"	"F11 II-1"
"00411453"	""	""	""	"1"	""	"04305"	"{PMID:Colman et al., 2022:35587586}"	""	"F"	"?"	"Italy"	">75y"	""	""	""	""	"F12-III-6"
"00411454"	""	""	""	"1"	""	"04305"	"{PMID:Colman et al., 2022:35587586}"	""	"M"	"?"	"France"	"?"	""	""	""	""	"F13-III-2"
"00411455"	""	""	""	"1"	""	"04305"	"{PMID:Colman et al., 2022:35587586}"	"An individual with the same sequence variant has previously been mentioned by {PMID:Ghali et al., 2019:30837697}. It is presumed that it is the same individual in both cases."	"?"	"?"	"France"	"?"	"0"	""	""	""	"F14-III-5"
"00411992"	""	""	""	"1"	""	"04305"	"{PMID:Liang et al., 2022:34845833}"	""	"M"	"no"	"China"	""	""	""	""	""	"III:9"
"00411993"	""	""	""	"1"	""	"04305"	"{PMID:Aydiner 2020:32655343}"	""	"M"	"?"	"Turkey"	">39y"	""	""	""	""	""
"00412792"	""	""	""	"1"	""	"04305"	"{PMID:Guo et al., 2022:35754816}"	"This variant was found in four subjects within the same family. they are referred to as TAAD-1, II-8 / TAAD-1 III-12 / TAAD - 1, IV-3 / TAAD-1 IV-7"	"F"	"no"	"China"	""	"0"	""	""	""	"TAAD-1, III-4"
"00412793"	""	""	""	"1"	""	"04305"	"{PMID:Guo et al., 2022:35754816}"	""	"M"	"no"	"China"	""	""	""	""	""	"TAAD-1, II-8"
"00412794"	""	""	""	"1"	""	"04305"	"{PMID:Guo et al., 2022:35754816}"	""	"F"	""	"China"	""	""	""	""	""	"TAAD-1, III-12"
"00412795"	""	""	""	"1"	""	"04305"	"{PMID:Guo et al., 2022:35754816}"	""	"F"	"no"	"China"	""	""	""	""	""	"TAAD-1, IV-3"
"00412796"	""	""	""	"1"	""	"04305"	"{PMID:Guo et al., 2022:35754816}"	""	"F"	"no"	"China"	""	""	""	""	""	"TAAD-1, IV-7"
"00413238"	""	""	""	"1"	""	"04305"	"{PMID:Erhart et al., 2022:35743335}"	""	"M"	"no"	""	""	""	""	""	"non-Finish caucasian"	"2"
"00414701"	""	""	""	"1"	""	"04305"	"{PMID:Lumi et al., 2021:34011391}"	""	"M"	"no"	"Slovenia"	""	"0"	""	""	""	"I"
"00414702"	""	""	""	"1"	""	"04305"	"{PMID:Ruscitti et al., 2021:34318601}"	""	"M"	"?"	""	""	"0"	""	""	""	"I"
"00415817"	""	""	""	"1"	""	"04305"	"{PMID:Butler et al., 2022:35205368}"	""	"F"	""	"United States"	""	""	""	""	""	"I"
"00415818"	""	""	""	"1"	""	"04305"	"{PMID:Kim et al., 2021:33959295}"	""	"M"	"no"	"China"	""	""	""	""	""	"I"
"00417027"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417045"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417047"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417064"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417111"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417112"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417128"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417130"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417155"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417160"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00419206"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"F"	"?"	""	""	""	""	""	""	"1"
"00419207"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"F"	"?"	""	""	""	""	""	""	"2"
"00419208"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"M"	"?"	""	"15y"	""	""	""	""	"3"
"00419209"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"F"	"?"	""	""	""	""	""	""	"4"
"00424539"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"F"	"?"	"Japan"	""	""	""	""	""	"5"
"00424540"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"F"	"?"	"Japan"	""	""	""	""	""	"6"
"00424541"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"F"	"?"	"Japan"	""	""	""	""	""	"7"
"00424542"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"F"	"?"	"Japan"	""	""	""	""	""	"8"
"00424543"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"M"	"?"	"Japan"	""	""	""	""	""	"9"
"00424544"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"M"	"?"	"Japan"	""	""	""	""	""	"10"
"00424545"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"F"	"?"	"Japan"	""	""	""	""	""	"11"
"00424546"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"M"	"?"	"Japan"	"15y"	""	""	""	""	"12"
"00424547"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"F"	"?"	"Japan"	""	""	""	""	""	"13"
"00424548"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"M"	"?"	"Japan"	""	""	""	""	""	"14"
"00424549"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"M"	"?"	"Japan"	""	""	""	""	""	"15"
"00424550"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"F"	"?"	"Japan"	""	""	""	""	""	"16"
"00424551"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"M"	"?"	"Japan"	""	""	""	""	""	"17"
"00424552"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"M"	"?"	"Japan"	""	""	""	""	""	"18"
"00424553"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"F"	"?"	"Japan"	""	""	""	""	""	"19"
"00424554"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"F"	"?"	"Japan"	""	""	""	""	""	"20"
"00424555"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"F"	"?"	"Japan"	""	""	""	""	""	"21"
"00424556"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"F"	"?"	"Japan"	""	""	""	""	""	"22"
"00424558"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"F"	"?"	"Japan"	""	""	""	""	""	"23"
"00424559"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"F"	"?"	"Japan"	""	""	""	""	""	"24"
"00424560"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"F"	"?"	"Japan"	""	""	""	""	""	"25"
"00424561"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"F"	"?"	"Japan"	""	""	""	""	""	"26"
"00424562"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"M"	""	"Japan"	""	""	""	""	""	"27"
"00424792"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"M"	"?"	"Japan"	""	"0"	""	""	""	"28"
"00424793"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"M"	"?"	"Japan"	""	""	""	""	""	"29"
"00424794"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"M"	"?"	"Japan"	"26y"	""	""	""	""	"30"
"00424795"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"M"	"?"	"Japan"	""	""	""	""	""	"31"
"00424796"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"F"	"?"	"Japan"	""	""	""	""	""	"32"
"00424797"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"M"	"?"	"Japan"	""	""	""	""	""	"33"
"00424798"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"F"	"?"	"Japan"	""	""	""	""	""	"34"
"00424799"	""	""	""	"1"	""	"04305"	"{PMID:Yamaguchi et al., 2022:36189931}"	""	"M"	"?"	"Japan"	""	""	""	""	""	"35"
"00424909"	""	""	""	"1"	""	"04423"	""	""	"F"	"no"	"Korea, South (Republic)"	"39y"	"0"	""	""	"Asian"	""
"00424952"	""	""	""	"1"	""	"04423"	""	""	"M"	"no"	"Korea, South (Republic)"	">57y"	""	""	""	"Asian"	""
"00430267"	""	""	""	"1"	""	"04452"	""	"proband"	"F"	"-"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"1*"
"00430269"	""	""	""	"1"	""	"04452"	""	""	"M"	""	""	""	""	""	""	""	"2*"
"00430271"	""	""	""	"3"	""	"04452"	""	""	"M"	""	""	""	""	""	""	""	"3*"
"00430272"	""	""	""	"2"	""	"04452"	""	""	"M"	""	""	""	""	""	""	""	"6"
"00430295"	""	""	""	"2"	""	"04452"	""	""	"F"	""	""	""	""	""	""	""	"8*"
"00430296"	""	""	""	"1"	""	"04452"	""	""	"F"	""	""	""	""	""	""	""	"10*"
"00430297"	""	""	""	"3"	""	"04452"	""	""	"F"	""	""	""	""	""	""	""	"12*"
"00430298"	""	""	""	"1"	""	"04452"	""	""	"M"	""	""	""	""	""	""	""	"14*"
"00430300"	""	""	""	"1"	""	"04452"	""	""	"M"	""	""	""	""	""	""	""	"15*"
"00430301"	""	""	""	"1"	""	"04452"	""	""	"F"	""	""	""	""	""	""	""	"16*"
"00430303"	""	""	""	"1"	""	"04452"	""	""	"F"	""	""	""	""	""	""	""	"17*"
"00430304"	""	""	""	"1"	""	"04452"	""	""	"M"	""	""	""	""	""	""	""	"18*"
"00430305"	""	""	""	"2"	""	"04452"	""	""	"F"	""	""	""	""	""	""	""	"20*"
"00430306"	""	""	""	"1"	""	"04452"	""	""	"M"	""	""	""	""	""	""	""	"21*"
"00430307"	""	""	""	"3"	""	"04452"	""	""	"F"	""	""	""	""	""	""	""	"24*"
"00430308"	""	""	""	"1"	""	"04452"	""	""	"M"	""	""	""	""	""	""	""	"25*"
"00430309"	""	""	""	"1"	""	"04452"	""	""	"M"	""	""	""	""	""	""	""	"26"
"00430310"	""	""	""	"1"	""	"04452"	""	""	"M"	""	""	""	""	""	""	""	"27*"
"00430311"	""	""	""	"1"	""	"04452"	""	""	"F"	""	""	""	""	""	""	""	"28*"
"00430312"	""	""	""	"1"	""	"04452"	""	""	"M"	""	""	""	""	""	""	""	"29*"
"00430313"	""	""	""	"1"	""	"04452"	""	""	"F"	""	""	""	""	""	""	""	"30*"
"00430314"	""	""	""	"2"	""	"04452"	""	""	"M"	""	""	""	""	""	""	""	"31*"
"00430315"	""	""	""	"1"	""	"04452"	""	""	"F"	""	""	""	"0"	""	""	""	"33*"
"00430316"	""	""	""	"1"	""	"04452"	""	""	"F"	""	""	""	""	""	""	""	"34*"
"00430317"	""	""	""	"3"	""	"04452"	""	""	"F"	""	""	""	""	""	""	""	"37*"
"00430318"	""	""	""	"1"	""	"04452"	""	""	"M"	""	""	""	""	""	""	""	"38"
"00430319"	""	""	""	"1"	""	"04452"	""	""	"F"	""	""	""	""	""	""	""	"39"
"00430320"	""	""	""	"1"	""	"04452"	""	""	"F"	""	""	""	""	""	""	""	"40*"
"00430321"	""	""	""	"2"	""	"04452"	""	""	"M"	""	""	""	""	""	""	""	"42*"
"00430322"	""	""	""	"3"	""	"04452"	""	""	"M"	""	""	""	""	""	""	""	"43*"
"00430323"	""	""	""	"2"	""	"04452"	""	""	""	""	""	""	""	""	""	""	"46*"
"00430324"	""	""	""	"1"	""	"04452"	""	""	"M"	""	""	""	""	""	""	""	"48*"
"00430325"	""	""	""	"2"	""	"04452"	""	""	"M"	""	""	""	""	""	""	""	"49*"
"00430326"	""	""	""	"1"	""	"04452"	""	""	"F"	""	""	""	""	""	""	""	"51*"
"00430327"	""	""	""	"3"	""	"04452"	""	""	"M"	""	""	""	""	""	""	""	"52*"
"00430328"	""	""	""	"2"	""	"04452"	""	""	"M"	""	""	""	""	""	""	""	"55*"
"00430329"	""	""	""	"1"	""	"04452"	""	""	"F"	""	""	""	""	""	""	""	"57*"
"00430330"	""	""	""	"1"	""	"04452"	""	""	"F"	""	""	""	""	""	""	""	"58*"
"00430331"	""	""	""	"1"	""	"04452"	""	""	"F"	""	""	""	""	""	""	""	"59*"
"00430332"	""	""	""	"1"	""	"04452"	""	""	"M"	""	""	""	""	""	""	""	"60"
"00430719"	""	""	""	"1"	""	"03312"	""	""	""	"yes"	"Pakistan"	""	""	""	""	""	""
"00431576"	""	""	""	"1"	""	"04452"	""	"Proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"61*"
"00431577"	""	""	""	"1"	""	"04452"	""	"Proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"62"
"00431578"	""	""	""	"1"	""	"04452"	""	"Proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"63*"
"00431579"	""	""	""	"5"	""	"04452"	""	"Proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"68*"
"00431580"	""	""	""	"1"	""	"04452"	""	"Proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"69*"
"00431581"	""	""	""	"1"	""	"04452"	""	"Proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"70*"
"00431582"	""	""	""	"1"	""	"04452"	""	"Proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"71*"
"00431583"	""	""	""	"3"	""	"04452"	""	"Proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"74"
"00431584"	""	""	""	"1"	""	"04452"	""	"Proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"75*"
"00431585"	""	""	""	"1"	""	"04452"	""	"Proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"76*"
"00431586"	""	""	""	"2"	""	"04452"	""	"Proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"78"
"00431587"	""	""	""	"1"	""	"04452"	""	"Proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"79*"
"00431588"	""	""	""	"1"	""	"04452"	""	"Proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"80*"
"00431589"	""	""	""	"2"	""	"04452"	""	"Proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"82*"
"00431590"	""	""	""	"1"	""	"04452"	""	"Proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"83*"
"00431591"	""	""	""	"1"	""	"04452"	""	"Proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"84*"
"00431592"	""	""	""	"1"	""	"04452"	""	"Proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"85*"
"00431593"	""	""	""	"1"	""	"04452"	""	"Proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"86"
"00431594"	""	""	""	"1"	""	"04452"	""	"Proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"87*"
"00431595"	""	""	""	"4"	""	"04452"	""	"Proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"90"
"00431596"	""	""	""	"2"	""	"04452"	""	"Proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"93"
"00431597"	""	""	""	"1"	""	"04452"	""	"Proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"94*"
"00431598"	""	""	""	"1"	""	"04452"	""	"Proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"95*"
"00431599"	""	""	""	"1"	""	"04452"	""	"Proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"96"
"00431600"	""	""	""	"2"	""	"04452"	""	"Proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"97*"
"00431601"	""	""	""	"1"	""	"04452"	""	"proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"99"
"00431602"	""	""	""	"2"	""	"04452"	""	"proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"101*"
"00431603"	""	""	""	"4"	""	"04452"	""	"proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"102"
"00431604"	""	""	""	"3"	""	"04452"	""	"proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"107*"
"00431605"	""	""	""	"3"	""	"04452"	""	"proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"111*"
"00431606"	""	""	""	"4"	""	"04452"	""	"proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"114"
"00431607"	""	""	""	"1"	""	"04452"	""	"proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"116*"
"00431608"	""	""	""	"1"	""	"04452"	""	"relative"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"117*"
"00431609"	""	""	""	"1"	""	"04452"	""	"proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"118"
"00431610"	""	""	""	"1"	""	"04452"	""	"proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"119*"
"00431611"	""	""	""	"1"	""	"04452"	""	"proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"120"
"00431612"	""	""	""	"2"	""	"04452"	""	"proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"122"
"00431613"	""	""	""	"5"	""	"04452"	""	"proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"125*"
"00431614"	""	""	""	"2"	""	"04452"	""	"proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"129*"
"00431615"	""	""	""	"1"	""	"04452"	""	"proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"130*"
"00431616"	""	""	""	"2"	""	"04452"	""	"proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"131"
"00431617"	""	""	""	"3"	""	"04452"	""	"relative"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"135*"
"00431618"	""	""	""	"1"	""	"04452"	""	"relative"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"136*"
"00431619"	""	""	""	"1"	""	"04452"	""	"proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"137"
"00431620"	""	""	""	"5"	""	"04452"	""	"proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"140"
"00431621"	""	""	""	"3"	""	"04452"	""	"proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"144*"
"00431622"	""	""	""	"1"	""	"04452"	""	"proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"147*"
"00431623"	""	""	""	"2"	""	"04452"	""	"relative"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"149*"
"00431624"	""	""	""	"6"	""	"04452"	""	"proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"154*"
"00431625"	""	""	""	"2"	""	"04452"	""	"proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"157"
"00431626"	""	""	""	"5"	""	"04452"	""	"relative"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"158*"
"00431627"	""	""	""	"1"	""	"04452"	""	"proband"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"163*"
"00431628"	""	""	""	"11"	""	"04452"	""	"proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"170*"
"00431629"	""	""	""	"4"	""	"04452"	""	"proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"177*"
"00431630"	""	""	""	"1"	""	"04452"	""	"proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"179*"
"00431631"	""	""	""	"1"	""	"04452"	""	"proband"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"180*"
"00431785"	""	""	""	"1"	""	"04136"	"Leone 2023, submitted"	""	""	""	"Italy"	""	"0"	""	""	""	"P-0142"
"00431828"	""	""	""	"1"	""	"04136"	"Leone 2023, submitted"	""	""	""	"Italy"	""	"0"	""	""	""	"P-0189"
"00438415"	""	""	""	"1"	""	"00006"	"{PMID:Chuan 2022:35571021}"	""	"F"	""	"China"	""	"0"	""	""	""	"Pat134"
"00446705"	""	""	""	"1"	""	"00006"	"{PMID:Stevens 2016:27964749}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat4"
"00448536"	""	""	""	"4"	""	"02284"	""	""	"F"	"no"	"Italy"	""	""	""	""	""	""
"00452941"	""	""	""	"1"	""	"04693"	"{PMID:Akutsu 2024:39007042}"	""	"F"	"?"	"Japan"	""	"0"	""	"Surgical graft replacement of thoracoabdominal aorta."	""	"patient"
"00454811"	""	""	""	"2"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00454930"	""	""	""	"1"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455338"	""	""	""	"2"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455339"	""	""	""	"2"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00455340"	""	""	""	"1"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455341"	""	""	""	"3"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455342"	""	""	""	"1"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455343"	""	""	""	"1"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455344"	""	""	""	"1"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455362"	""	""	""	"1"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455363"	""	""	""	"1"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455365"	""	""	""	"1"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455368"	""	""	""	"1"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455370"	""	""	""	"1"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455372"	""	""	""	"2"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455374"	""	""	""	"2"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455376"	""	""	""	"2"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455377"	""	""	""	"1"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455456"	""	""	""	"1"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455457"	""	""	""	"1"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455458"	""	""	""	"1"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455459"	""	""	""	"1"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455460"	""	""	""	"1"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455461"	""	""	""	"3"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455462"	""	""	""	"1"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00455463"	""	""	""	"1"	""	"04746"	""	""	""	""	"United Kingdom (Great Britain)"	""	""	""	""	""	""
"00458116"	""	""	""	"1"	""	"04746"	""	""	""	""	""	""	""	""	""	""	""
"00458117"	""	""	""	"1"	""	"04746"	""	""	""	""	""	""	""	""	""	""	""
"00458118"	""	""	""	"1"	""	"04746"	""	""	""	""	""	""	""	""	""	""	""
"00458119"	""	""	""	"1"	""	"04746"	""	""	""	""	""	""	""	""	""	""	""
"00458120"	""	""	""	"1"	""	"04746"	""	""	""	""	""	""	""	""	""	""	""
"00458121"	""	""	""	"1"	""	"04746"	""	""	""	""	""	""	""	""	""	""	""
"00458122"	""	""	""	"1"	""	"04746"	""	""	""	""	""	""	""	""	""	""	""
"00458123"	""	""	""	"2"	""	"04746"	""	""	""	""	""	""	""	""	""	""	""
"00458124"	""	""	""	"1"	""	"04746"	""	""	""	""	""	""	""	""	""	""	""
"00458125"	""	""	""	"1"	""	"04746"	""	""	""	""	""	""	""	""	""	""	""
"00458126"	""	""	""	"1"	""	"04746"	""	""	""	""	""	""	""	""	""	""	""
"00458127"	""	""	""	"1"	""	"04746"	""	""	""	""	""	""	""	""	""	""	""
"00458128"	""	""	""	"1"	""	"04746"	""	""	""	""	""	""	""	""	""	""	""
"00458129"	""	""	""	"1"	""	"04746"	""	""	""	""	""	""	""	""	""	""	""
"00458130"	""	""	""	"1"	""	"04746"	""	""	""	""	""	""	"0"	""	""	""	""
"00458131"	""	""	""	"1"	""	"04746"	""	""	""	""	""	""	""	""	""	""	""
"00458132"	""	""	""	"1"	""	"04746"	""	""	""	""	""	""	""	""	""	""	""
"00458133"	""	""	""	"1"	""	"04746"	""	""	""	""	""	""	""	""	""	""	""
"00458134"	""	""	""	"1"	""	"04746"	""	""	""	""	""	""	""	""	""	""	""
"00458135"	""	""	""	"1"	""	"04746"	""	""	""	""	""	""	""	""	""	""	""
"00458136"	""	""	""	"1"	""	"04746"	""	""	""	""	""	""	""	""	""	""	""
"00458146"	""	""	""	"1"	""	"02544"	""	""	""	""	""	""	""	""	""	""	""
"00458147"	""	""	""	"1"	""	"02544"	""	""	""	""	""	""	""	""	""	""	""
"00458149"	""	""	""	"1"	""	"02544"	""	""	""	""	"Albania"	""	""	""	""	""	""
"00458150"	""	""	""	"1"	""	"02544"	""	""	""	""	""	""	""	""	""	""	""
"00458151"	""	""	""	"1"	""	"02544"	""	""	""	""	""	""	""	""	""	""	""
"00458152"	""	""	""	"1"	""	"02544"	""	""	""	""	""	""	""	""	""	""	""
"00458153"	""	""	""	"1"	""	"02544"	""	""	""	""	""	""	""	""	""	""	""
"00458154"	""	""	""	"1"	""	"02544"	""	""	""	""	""	""	""	""	""	""	""
"00458166"	""	""	""	"1"	""	"04746"	""	""	""	""	""	""	""	""	""	""	""
"00458167"	""	""	""	"2"	""	"04746"	""	""	""	""	""	""	""	""	""	""	""
"00461049"	""	""	""	"1"	""	"04796"	""	""	""	""	"Netherlands"	""	"0"	""	""	""	""
"00461056"	""	""	""	"1"	""	"04796"	""	""	""	""	"Netherlands"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2560
"{{individualid}}"	"{{diseaseid}}"
"00050703"	"00198"
"00081291"	"00169"
"00081291"	"00638"
"00104018"	"03381"
"00163906"	"00198"
"00288843"	"01302"
"00289044"	"00169"
"00292504"	"00198"
"00292505"	"00198"
"00292506"	"00198"
"00292507"	"00198"
"00292508"	"00198"
"00292509"	"00198"
"00292510"	"00198"
"00292511"	"00198"
"00295178"	"00198"
"00295295"	"00198"
"00296392"	"00198"
"00301083"	"00198"
"00304762"	"00198"
"00315503"	"05166"
"00318196"	"00169"
"00318196"	"01302"
"00318197"	"00169"
"00318197"	"01302"
"00318198"	"00198"
"00318199"	"00169"
"00318199"	"01302"
"00318200"	"00198"
"00318201"	"00198"
"00318202"	"00169"
"00318202"	"01302"
"00318203"	"00169"
"00318203"	"01301"
"00318204"	"00169"
"00318204"	"01302"
"00318205"	"00169"
"00318205"	"01302"
"00318206"	"00198"
"00318207"	"00169"
"00318207"	"01302"
"00318208"	"00169"
"00318208"	"01302"
"00318209"	"00198"
"00318210"	"00198"
"00318211"	"00169"
"00318211"	"01302"
"00318212"	"00198"
"00318213"	"04193"
"00318214"	"00169"
"00318214"	"01302"
"00318215"	"00169"
"00318215"	"01302"
"00318216"	"00169"
"00318216"	"01302"
"00318217"	"00169"
"00318217"	"01302"
"00318218"	"00169"
"00318218"	"01302"
"00318219"	"00169"
"00318219"	"01302"
"00318220"	"00169"
"00318220"	"01302"
"00318221"	"00169"
"00318221"	"01302"
"00318222"	"00169"
"00318222"	"01302"
"00318223"	"00169"
"00318223"	"01302"
"00318224"	"00169"
"00318224"	"01302"
"00318225"	"00169"
"00318225"	"01302"
"00318226"	"00169"
"00318226"	"01302"
"00318227"	"00169"
"00318227"	"01302"
"00318228"	"00169"
"00318228"	"01302"
"00318229"	"00169"
"00318229"	"01302"
"00318230"	"00169"
"00318230"	"01302"
"00318231"	"00169"
"00318231"	"01302"
"00318232"	"00169"
"00318232"	"01302"
"00318233"	"00169"
"00318233"	"01302"
"00318234"	"00169"
"00318234"	"01302"
"00318235"	"00169"
"00318235"	"01302"
"00318236"	"00169"
"00318236"	"01302"
"00318237"	"00169"
"00318237"	"01302"
"00318238"	"00169"
"00318238"	"01302"
"00318239"	"00169"
"00318239"	"01302"
"00318240"	"00169"
"00318240"	"01302"
"00318241"	"00169"
"00318241"	"01302"
"00318242"	"00169"
"00318242"	"01302"
"00318243"	"00169"
"00318243"	"01302"
"00318244"	"00169"
"00318244"	"01302"
"00318245"	"00169"
"00318245"	"01302"
"00318246"	"00169"
"00318246"	"01302"
"00318247"	"00169"
"00318247"	"01302"
"00318248"	"00169"
"00318248"	"01302"
"00318249"	"00169"
"00318249"	"01302"
"00318250"	"00169"
"00318250"	"01302"
"00318251"	"00169"
"00318251"	"01302"
"00318252"	"00169"
"00318252"	"01302"
"00318253"	"00169"
"00318253"	"01302"
"00318254"	"00169"
"00318254"	"01302"
"00318255"	"00169"
"00318255"	"01302"
"00318256"	"00169"
"00318256"	"01302"
"00318257"	"00169"
"00318257"	"01302"
"00318258"	"00169"
"00318258"	"01302"
"00318259"	"00169"
"00318259"	"01302"
"00318260"	"00169"
"00318260"	"01302"
"00318261"	"00169"
"00318261"	"01302"
"00318262"	"00169"
"00318262"	"01302"
"00318263"	"00169"
"00318263"	"01302"
"00318264"	"00169"
"00318264"	"01302"
"00318265"	"00169"
"00318265"	"01302"
"00318266"	"00169"
"00318266"	"01302"
"00318267"	"00169"
"00318267"	"01302"
"00318268"	"00169"
"00318268"	"01302"
"00318269"	"00169"
"00318269"	"01302"
"00318270"	"00169"
"00318270"	"01302"
"00318271"	"00169"
"00318271"	"01302"
"00318272"	"00169"
"00318272"	"01302"
"00318273"	"00169"
"00318273"	"01302"
"00318274"	"00169"
"00318274"	"01302"
"00318275"	"00169"
"00318275"	"01302"
"00318276"	"00169"
"00318276"	"01302"
"00318277"	"00169"
"00318277"	"01302"
"00318278"	"00169"
"00318278"	"01302"
"00318279"	"00169"
"00318279"	"01302"
"00318280"	"00169"
"00318280"	"01302"
"00318281"	"00169"
"00318281"	"01302"
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"00319332"	"00169"
"00319332"	"01302"
"00319333"	"00169"
"00319333"	"01302"
"00319334"	"00169"
"00319334"	"01302"
"00319335"	"00169"
"00319335"	"01302"
"00319336"	"00169"
"00319336"	"01302"
"00319337"	"04193"
"00319338"	"00169"
"00319338"	"01302"
"00319339"	"00198"
"00319340"	"00198"
"00319341"	"05821"
"00319342"	"00169"
"00319342"	"01302"
"00319343"	"00169"
"00319343"	"01302"
"00319344"	"00169"
"00319344"	"01302"
"00319345"	"00169"
"00319345"	"01302"
"00319346"	"00198"
"00319347"	"00169"
"00319347"	"01302"
"00319348"	"00198"
"00319349"	"00198"
"00319350"	"00198"
"00319351"	"00198"
"00319352"	"00169"
"00319352"	"01302"
"00319353"	"00169"
"00319353"	"01302"
"00319354"	"00169"
"00319354"	"01302"
"00319355"	"00169"
"00319355"	"05784"
"00319356"	"04193"
"00319357"	"00169"
"00319357"	"01302"
"00319358"	"00169"
"00319358"	"01302"
"00319359"	"00169"
"00319359"	"01302"
"00319360"	"04193"
"00319361"	"00169"
"00319361"	"01302"
"00319362"	"00169"
"00319362"	"01302"
"00319363"	"00169"
"00319363"	"01302"
"00319364"	"00169"
"00319364"	"01301"
"00319365"	"00169"
"00319365"	"01301"
"00319366"	"00169"
"00319366"	"01302"
"00319367"	"00169"
"00319367"	"01302"
"00319368"	"00169"
"00319368"	"01302"
"00319369"	"00198"
"00319370"	"00198"
"00319371"	"00169"
"00319372"	"00169"
"00319372"	"01302"
"00319373"	"00169"
"00319373"	"01302"
"00319374"	"00169"
"00319374"	"01302"
"00319375"	"00169"
"00319375"	"01302"
"00319376"	"05821"
"00319377"	"00169"
"00319377"	"01302"
"00319378"	"00169"
"00319378"	"01302"
"00319379"	"00169"
"00319379"	"01302"
"00319380"	"00169"
"00319380"	"05784"
"00319381"	"00198"
"00319382"	"00169"
"00319382"	"01302"
"00319383"	"00169"
"00319383"	"01302"
"00319384"	"00169"
"00319384"	"01302"
"00319385"	"00169"
"00319385"	"01302"
"00319386"	"00169"
"00319386"	"01302"
"00377101"	"00169"
"00377160"	"01302"
"00388258"	"01302"
"00398065"	"01302"
"00398130"	"00198"
"00402743"	"01302"
"00404786"	"01302"
"00406453"	"01302"
"00410008"	"01302"
"00411136"	"05784"
"00411196"	"05784"
"00411451"	"01301"
"00411452"	"00169"
"00411453"	"01302"
"00411453"	"05784"
"00411454"	"05784"
"00411455"	"05784"
"00411992"	"01302"
"00411993"	"01302"
"00412792"	"04193"
"00412793"	"04193"
"00412794"	"04193"
"00412795"	"04193"
"00412796"	"04193"
"00413238"	"04193"
"00414701"	"01302"
"00414702"	"01302"
"00415817"	"01302"
"00415818"	"01302"
"00417027"	"00198"
"00417045"	"00198"
"00417047"	"00169"
"00417064"	"00198"
"00417111"	"00169"
"00417112"	"00169"
"00417128"	"00169"
"00417130"	"00169"
"00417155"	"00169"
"00417160"	"00169"
"00419206"	"01302"
"00419207"	"01302"
"00419208"	"01302"
"00419209"	"01302"
"00424539"	"01302"
"00424540"	"01302"
"00424541"	"01302"
"00424542"	"01302"
"00424543"	"01302"
"00424544"	"01302"
"00424544"	"04193"
"00424545"	"01302"
"00424546"	"01302"
"00424547"	"01302"
"00424548"	"01302"
"00424549"	"01302"
"00424550"	"01302"
"00424551"	"01302"
"00424552"	"01302"
"00424553"	"01302"
"00424554"	"01302"
"00424555"	"01302"
"00424556"	"01302"
"00424558"	"01302"
"00424559"	"01302"
"00424560"	"01302"
"00424561"	"01302"
"00424562"	"01302"
"00424792"	"01302"
"00424793"	"01302"
"00424794"	"01302"
"00424795"	"01302"
"00424796"	"01302"
"00424797"	"01302"
"00424798"	"01302"
"00424799"	"01302"
"00424909"	"00169"
"00424952"	"00169"
"00430267"	"01302"
"00430269"	"01302"
"00430271"	"01302"
"00430272"	"01302"
"00430295"	"01302"
"00430296"	"01302"
"00430297"	"01302"
"00430298"	"01302"
"00430300"	"01302"
"00430301"	"01302"
"00430303"	"01302"
"00430304"	"01302"
"00430305"	"01302"
"00430306"	"01302"
"00430307"	"01302"
"00430308"	"01302"
"00430309"	"01302"
"00430310"	"01302"
"00430311"	"01302"
"00430312"	"01302"
"00430313"	"01302"
"00430314"	"01302"
"00430315"	"01302"
"00430316"	"01302"
"00430317"	"01302"
"00430318"	"01302"
"00430319"	"01302"
"00430320"	"01302"
"00430321"	"01302"
"00430322"	"01302"
"00430323"	"01302"
"00430324"	"01302"
"00430325"	"01302"
"00430326"	"01302"
"00430327"	"01302"
"00430328"	"01302"
"00430329"	"01302"
"00430330"	"01302"
"00430331"	"01302"
"00430332"	"01302"
"00430719"	"04270"
"00431576"	"01302"
"00431577"	"01302"
"00431578"	"01302"
"00431579"	"01302"
"00431580"	"01302"
"00431581"	"01302"
"00431582"	"01302"
"00431583"	"01302"
"00431584"	"01302"
"00431585"	"01302"
"00431586"	"01302"
"00431587"	"01302"
"00431588"	"01302"
"00431589"	"01302"
"00431590"	"01302"
"00431591"	"01302"
"00431592"	"01302"
"00431593"	"01302"
"00431594"	"01302"
"00431595"	"01302"
"00431596"	"01302"
"00431597"	"01302"
"00431598"	"01302"
"00431599"	"01302"
"00431600"	"01302"
"00431601"	"01302"
"00431602"	"01302"
"00431603"	"01302"
"00431604"	"01302"
"00431605"	"01302"
"00431606"	"01302"
"00431607"	"01302"
"00431608"	"01302"
"00431609"	"01302"
"00431610"	"01302"
"00431611"	"01302"
"00431612"	"01302"
"00431613"	"01302"
"00431614"	"01302"
"00431615"	"01302"
"00431616"	"01302"
"00431617"	"01302"
"00431618"	"01302"
"00431619"	"01302"
"00431620"	"01302"
"00431621"	"01302"
"00431622"	"01302"
"00431623"	"01302"
"00431624"	"01302"
"00431625"	"01302"
"00431626"	"01302"
"00431627"	"01302"
"00431628"	"01302"
"00431629"	"01302"
"00431630"	"01302"
"00431631"	"01302"
"00431785"	"00169"
"00431828"	"00198"
"00438415"	"04270"
"00446705"	"00198"
"00448536"	"01302"
"00452941"	"01302"
"00454811"	"01302"
"00454930"	"01302"
"00455338"	"01302"
"00455339"	"01302"
"00455340"	"01302"
"00455341"	"01302"
"00455342"	"01302"
"00455343"	"01302"
"00455344"	"01302"
"00455362"	"01302"
"00455363"	"01302"
"00455365"	"01302"
"00455368"	"01302"
"00455370"	"01302"
"00455372"	"01302"
"00455374"	"01302"
"00455376"	"01302"
"00455377"	"01302"
"00455456"	"01302"
"00455457"	"01302"
"00455458"	"01302"
"00455459"	"01302"
"00455460"	"01302"
"00455461"	"01302"
"00455462"	"01302"
"00455463"	"01302"
"00458116"	"01302"
"00458117"	"01302"
"00458118"	"01302"
"00458119"	"01302"
"00458120"	"01302"
"00458121"	"01302"
"00458122"	"01302"
"00458123"	"01302"
"00458124"	"01302"
"00458125"	"01302"
"00458126"	"01302"
"00458127"	"01302"
"00458128"	"01302"
"00458129"	"01302"
"00458130"	"01302"
"00458131"	"01302"
"00458132"	"01302"
"00458133"	"01302"
"00458134"	"01302"
"00458135"	"01302"
"00458136"	"01302"
"00458146"	"01302"
"00458147"	"01302"
"00458149"	"01302"
"00458150"	"01302"
"00458151"	"01302"
"00458152"	"01302"
"00458153"	"01302"
"00458154"	"01302"
"00458166"	"01302"
"00458167"	"01302"
"00461049"	"00198"
"00461056"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00169, 00198, 00638, 01301, 01302, 03381, 04193, 04270, 05166, 05784, 05814, 05820, 05821, 05953
## Count = 276
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Hearing/Problems}}"	"{{Phenotype/Enzyme/CreatineKinase}}"	"{{Phenotype/Muscle/Electromyography}}"	"{{Phenotype/Muscle/Biopsy}}"	"{{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}}"
"0000037315"	"00198"	"00050703"	"00006"	"Isolated (sporadic)"	""	"talipes, inguinal hernia, generalized lipodystrophy, coarse hair, myopia"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000068454"	"00638"	"00081291"	"01741"	"Unknown"	""	"."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000081952"	"03381"	"00104018"	"00587"	"Unknown"	""	"diffuse-type or intestinal-type gastric cancer"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000129018"	"00198"	"00163906"	"01807"	"Unknown"	""	"HP:0002631 (Dilatation of ascending aorta)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000157250"	"00198"	"00208627"	"01164"	"Unknown"	""	"HP:0001519 (Disproportionate tall stature)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000223806"	"00198"	"00296392"	"01164"	"Unknown"	""	"Mild global developmental delay (HP:0011342); Motor delay (HP:0001270); Muscle weakness (HP:0001324); Gait imbalance (HP:0002141)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000228388"	"00198"	"00301083"	"01164"	"Unknown"	""	"Obesity (HP:0001513); Abnormality of blood and blood-forming tissues (HP:0001871); Abnormality of erythrocytes (HP:0001877); Anemia (HP:0001903); Abnormality of body weight (HP:0004323); Venous thrombosis (HP:0004936)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241838"	"00198"	"00318198"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241839"	"00198"	"00318200"	"00085"	"-"	""	"Cobblestone-like cortical malformation,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241840"	"00198"	"00318201"	"00085"	"-"	""	"Cobblestone-like cortical malformation,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241841"	"00198"	"00318206"	"01233"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241842"	"00198"	"00318209"	"00085"	"-"	""	"Aortic aneurysms,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241843"	"04193"	"00318213"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241844"	"04193"	"00318333"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241845"	"00198"	"00318373"	"00085"	"-"	""	"Artery dissections,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241846"	"00198"	"00318392"	"01233"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241847"	"00198"	"00318418"	"00085"	"-"	""	"Aortic aneurysms,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241848"	"00198"	"00318452"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241849"	"00198"	"00318456"	"00085"	"-"	""	"Cervical artery dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241850"	"00198"	"00318465"	"00085"	"-"	""	"Cervical artery dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241851"	"00169"	"00318471"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241852"	"00198"	"00318498"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241853"	"04193"	"00318516"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241854"	"04193"	"00318525"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241855"	"00198"	"00318537"	"00085"	"-"	""	"Artery dissections,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241856"	"00198"	"00318541"	"00085"	"-"	""	"Cobblestone-like cortical malformation,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241857"	"00198"	"00318556"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241858"	"04193"	"00318579"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241859"	"00198"	"00318598"	"00085"	"-"	""	"Aortic aneurysms,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241860"	"00198"	"00318599"	"01233"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241861"	"04193"	"00318712"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241862"	"04193"	"00318737"	"03711"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241863"	"00198"	"00318752"	"01233"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241864"	"00198"	"00318753"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241865"	"00198"	"00318754"	"00085"	"-"	""	"Artery dissections,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241866"	"04193"	"00318809"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241867"	"00169"	"00318821"	"03711"	"-"	""	"Aortic aneurysms and/or dissection, Aortic aneurysms,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241868"	"04193"	"00318822"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241869"	"04193"	"00318859"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241870"	"00198"	"00318910"	"00085"	"-"	""	"Artery dissections,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241871"	"00198"	"00318948"	"00085"	"-"	""	"Aortic aneurysms,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241872"	"00198"	"00318983"	"01233"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241873"	"04193"	"00319016"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241874"	"00198"	"00319058"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241875"	"00198"	"00319067"	"01233"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241876"	"00198"	"00319172"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241877"	"00198"	"00319186"	"00085"	"-"	""	"Artery dissections,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241878"	"00169"	"00319188"	"00085"	"-"	""	"Artery dissections,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241879"	"00198"	"00319212"	"00085"	"-"	""	"Distal aneurysms and dissections,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241880"	"00198"	"00319235"	"00085"	"-"	""	"Distal aneurysms and dissections,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241881"	"04193"	"00319337"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241882"	"00198"	"00319346"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241883"	"00198"	"00319348"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241884"	"04193"	"00319356"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241885"	"04193"	"00319360"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241886"	"00198"	"00319369"	"01233"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000272285"	"00169"	"00377101"	"01164"	"Familial, autosomal recessive"	"00y07m"	"polymicrogyria, abnormal cortical gyration, bilateral polymicrogyria"	""	""	""	""	""	""	""	""	""	""	""	""	"PMGEDSV"	"polymicrogyria"	""
"0000291175"	"01302"	"00398065"	"01164"	"Familial, autosomal dominant"	""	"Spontaneous hematomas, Abnormal vascular morphology, Abnormal systemic arterial morphology, Bruising susceptibility, Inguinal hernia, Muscular hypotonia, Premature rupture of membranes, Premature birth following premature rupture of fetal membranes"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000291240"	"00198"	"00398130"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	""	"thoracic aortic disorder"	""
"0000295789"	"01302"	"00402743"	"00006"	"Isolated (sporadic)"	"36y"	"see paper; ..., low muscle tonus, skin tearing, excessive bleeding upon laparoscopic myomectomy surgery for uterine fibroids; medical history of indirect carotid-cavernous sinus fistula 26y-treated with intravenous embolization; “Madonna” face with large eyes, nasal thinning, small earlobes, thin translucent skin with telangiectasia; no obvious hypermobility small joint, no skin hyperextensibility; skin biopsy specimen showed sparse and thin collagen fibers indermis; no family hstory"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000302121"	"01302"	"00410008"	"04305"	"Isolated (sporadic)"	""	"slender extremities, thin and translucent skin, talipesequinovarus, a visible venous pattern over limbs, chest, abdomen and extremities"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000303226"	"05784"	"00411136"	"04305"	"Unknown"	"56y"	"Premature aged appearance, facial scars, palpebral skin redundancy, prominent eyes with greyish sclerae, and a fine nose and thin lips. Her skin was remarkably doughy, soft and hyperextensible with a few dilated, atrophic scars on her arm and varicose veins at the lower limbs. At adult age, she suffered from chronic fatigue and widespread pain, and she reported bad dental quality."	"?"	""	""	""	""	"20y-30y"	""	""	""	""	""	""	""	""	""
"0000303271"	"05784"	"00411196"	"04305"	"Unknown"	"29y"	"Presented w/ generalised joint hypermobility, most pronounced at the distal joints. No dislocations present. Severe varicose veins were seen on the lower limb. Small atrophic scars at his knees and a haemosiderotic scar on his right lower leg. He also suffered from chronic pain, fatigue and poor dentition."	"?"	""	""	""	""	"?"	""	""	""	""	""	""	""	"cEDS"	""
"0000303488"	"01301"	"00411451"	"04305"	"Familial"	"49y"	"Recurrent joint dislocations and chronic widespread pain. Skin was fragile, hyperextensible and had a soft and doughy aspect with remarkable translucency.reported severe bruising tendency, and varicose veins at a young age. She presented generalised joint hypermobility of both distal and proximal joints with a Beighton score of 7/9."	""	""	""	""	""	""	""	""	""	""	""	""	""	"hEDS"	""
"0000303489"	"00169"	"00411452"	"04305"	"Unknown"	"31y"	"Soft, doughy and hyperextensible skin and several small atrophic scars at his forehead, left arm and right leg.pronounced easy bruising of the skin, but there were no major vascular complications and echocar- diographic investigations were normal.\r\nHe presented generalised joint hypermobility (Beighton 5/9) with distal hypermobility and pedes plani."	""	""	""	""	""	""	"18y"	""	""	""	""	""	""	"EDS"	""
"0000303490"	"05784"	"00411453"	"04305"	"Familial"	"62y"	"joint hypermobility was noted with remaining distal hypermobility and recurrent dislocations of small\r\njoints and shoulders. She also presented moderate scoliosis, halluces valgi, pedes cavi and piezogenic papulae. Her skin was soft, doughy, and hyperextensible (almost cutis laxa-like) with increased fragility and multiple atrophic scars. She showed no increased skin translucency, but there was easy bruising with a history of haematomas. Besides varicose veins and a carotid stenosis at age 62 years, there were no other vascular complications and echocardiography and echo-doppler of the supra- aortic vessels showed no abnormalities besides a mild mitral valve prolapse. Her facial features included mild hypertelorism, light blue sclerae and a premature aged appearance."	"01y?"	""	""	""	""	"75y"	""	""	""	""	""	""	""	"cEDS"	""
"0000303491"	"05784"	"00411454"	"04305"	"Familial"	"16y"	"soft, doughy and hyperextensible skin and multiple atrophic scars. He reported easy bruis- ing with spontaneous haematomas, but no major vascular complications. Echocardiographic investigations revealed no abnormalities."	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	""
"0000303492"	"05784"	"00411455"	"04305"	"Familial"	"48y"	"cutaneous features reminiscent of cEDS including a soft, doughy, hyperextensible skin with presence of atrophic scars (without haemosiderin deposits). Aged 48 years, a Beighton score of 4/9 was noted with distal joint hypermobility. His facial features were evocative of both cEDS and vEDS. He also had a history of an inguinal hernia and incisional hernia, both requiring repair and he suffered from a spontaneous perforation of a sigmoid colon diverticulum at age 41. Vascular complications include a right renal artery dissection and an internal iliac aneurysm (16mm). He further reported easy bruising with frequent haematomas requiring drainage twice, and increased gum bleeding. He inherited the variant from his father who had a similar phenotype and had a colonic perforation during a polypectomy at the age of 48."	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	""
"0000304007"	"01302"	"00411992"	"04305"	"Familial"	"36y"	"Patient had velvety, smooth, thin skin with visible veins in the hands and feet, acrogeria of the limbs and ecchymosis. Vascular abnormalities were found by means of computed tomography angiogra- phy (CTA). Patient was hospitalized with a complaint of upper abdominal pain and had a history of bowel rupture."	""	""	""	""	""	"36y"	""	""	""	""	""	""	""	"vEDS"	""
"0000304008"	"01302"	"00411993"	"04305"	"Familial"	"39y"	"A 39-year-old male patient was admitted to the hospital with blurred vision of the right eye and right hemispheric headache. His symptoms had started 2 weeks before and partially resolved over time.Brain MRI and angiography of carotid and vertebral arteries showed dissection and total occlusion of the right internal carotid artery.Two years later, he had left lumbar and lower quadrant abdominal pain. Abdominal imaging and MRI angiography showed a dissected aneurysm of the left common iliac artery of approximately 3.5 cm. Patient underwent aneurysm resection and anastomosis. The operation required further revisions and transfusions, but the patient recovered without any other events."	""	""	""	""	""	"39y"	""	""	""	""	""	""	""	"vEDS"	""
"0000304783"	"01302"	"00412792"	"04305"	"Familial"	""	"40-year-old woman who was admitted to the hospital because of abdominal pain for one month. A CTA examination revealed thoracic aortic aneurysm,bilateral common iliac aneurysm, and right common iliac artery dissection."	""	""	""	""	""	""	""	""	""	""	""	""	""	"40"	""
"0000305219"	"04193"	"00413238"	"04305"	"Familial"	""	"Aortic dissection at bilateral ICA, left VA, aorta type. Skin biopsies showed structural abnormalities of skin connective tissue integrity including small-caliber collagen fibrils."	""	""	""	""	""	""	""	""	""	""	""	""	""	"39"	""
"0000306496"	"01302"	"00414701"	"04305"	"Unknown"	"40y"	"High myopia, unilateral bullous retinal detachment, and vitreous hemorrhage was referred for surgery. The patient had a history of colon perforation, muscle and arterial rupture in both lower limbs, and recurrent shoulder joint luxations. Genetic testing revealed a pathogenic mutation in the COL3A1 gene. The patient underwent a 25-gauge three-port pars plana vitrectomy."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000306497"	"01302"	"00414702"	"04305"	"Unknown"	"40y"	"10‐year history of sprains and muscle ruptures. He reported six left knee sprains, two ruptures of the right rectus femoris muscle."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000307589"	"01302"	"00415817"	"04305"	"Familial"	"58y"	"58-year-old female seen in the Genetics Clinic at the University of Kansas Medical Center for discomfort in the upper quadrant of her abdomen, irritable bowel syndrome (IBS), and a history of surgical repair during the past two years due to a spontaneous transverse colon perforation without diverticulosis and a positive family history of colon perforation. She had no history of Hirschsprung’s disease or megacolon prior to colon perforation. She had a previous history of abdominal pain and discomfort as a young child and IBS, fibromyalgia, and Raynaud’s phenomenon since 18 years of age. Other review of systems was normal. The family history showed her maternal grandmother dying at 40 years of age from an unknown cause possibly involving the female reproductive tract. Her mother had a perforated colon at age 78 years and the surgical repair was attempted with some success but died two years later from poor healing and leakage from the intestine. Her 53-year-old sister had a colon resection due to imminent perforation and is under surveillance. Her 61-year-old sister had a perforation of the colon with colostomy and is under surveillance. Her maternal niece had a colon perforation age 31 years of age and is under current surveillance. Her first cousin (her mother’s brother’s son) was diagnosed with a perforation of the colon at six years of age and has a colostomy. Hence, there are six affected individuals including both sexes having had a perforation of the colon and/or surgical procedures performed due to an imminent risk of colon perforation."	""	""	""	""	""	""	""	""	""	""	""	""	"vEDS"	""	""
"0000307590"	"01302"	"00415818"	"04305"	"Familial"	"19y"	"19‐year‐old male patient was referred to the hospital for recurrent pneumothorax. He previously experienced seven episodes of pneumothorax refractory to conventional treatment including pleurodesis and wedge resection. On admission, chest computed tomography scan showed multiple cystic lesions with surrounding ground‐glass opacities and several nodules in both lungs. Detailed history revealed that the patient experienced haemoptysis whenever pneumothorax developed and had a family history of sudden death. Physical examination showed large eyes with conjunctival injection, hypermobile joints, and hyper‐extensive and easily bruised skin. It revealed deep‐set eyes with infraorbital creases, and the skin surface was thin with increased venous visibility. Chest auscultation was normal."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000308537"	"00198"	"00417027"	"02544"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308555"	"00198"	"00417045"	"02544"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308557"	"00169"	"00417047"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"classical Ehlers-Danlos syndrome"	""
"0000308574"	"00198"	"00417064"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308621"	"00169"	"00417111"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"classical Ehlers-Danlos syndrome"	""
"0000308622"	"00169"	"00417112"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"vascular EDS syndrome"	""
"0000308638"	"00169"	"00417128"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"vascular EDS syndrome"	""
"0000308640"	"00169"	"00417130"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"vascular EDS syndrome"	""
"0000308665"	"00169"	"00417155"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"vascular EDS syndrome"	""
"0000308670"	"00169"	"00417160"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"vascular EDS syndrome"	""
"0000310494"	"01302"	"00419206"	"04305"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"59"	""
"0000310495"	"01302"	"00419207"	"04305"	"Familial"	""	"Mother died of carotid-cavernous sinus fistula"	""	""	""	""	""	""	""	""	""	""	""	""	""	"29"	""
"0000310496"	"01302"	"00419208"	"04305"	"Familial"	""	"Family History: Mother died at 30s, subarachnoid hemorrhage"	""	""	""	""	""	""	""	""	""	""	""	""	""	"15"	""
"0000310497"	"01302"	"00419209"	"04305"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"45"	""
"0000315735"	"01302"	"00424539"	"04305"	"Familial"	"17y"	"Positive for easy bruising, thin/translucent skin, characteristic facial features and hypermobility of small joints. Family history is significant: Mother died at 32 years, aortic dissection; grandfather, died at 30s, aortic dissection."	""	""	""	""	""	""	""	""	""	""	""	""	""	"vEDS"	""
"0000315736"	"01302"	"00424540"	"04305"	"Unknown"	"54y"	"Patient positive for aortic dissection, carotid-cavernous sinus fistula, easy bruising, thin/translucent skin, characteristic facial features, gingival recession/fragility and keratoconus. \r\n\r\nPatient developed a right carotid-cavernous sinus fistula at age 47 years, which was treated with coil embolization. During the procedure, a left internal carotid artery dissection occurred and was treated with stent placement. Asymptomatic bilateral external iliac artery dissection and right colic artery dissection were found on thoracoabdominal CT angiography. At age 53 years, coil embolization was performed three times for the recurrent left carotid-cavernous sinus fistula."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000315737"	"01302"	"00424541"	"04305"	"Familial"	"21y"	"Patient is positive for carotid-cavernous sinus fistula, easy bruising, talipes equinovarus, and hypermobility of small joints. Family history is positive but details are unknown."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000315738"	"01302"	"00424542"	"04305"	"Unknown"	"34y"	"Patient is positive for Aortic and Arterial dissection, easy bruising, thin/translucent skin, acrogeria and gingival recession/fragility. No family history is known."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000315739"	"01302"	"00424543"	"04305"	"Familial"	"50y"	"Patient positive for Aortic dissectioni. LDS/FTAAD were suspected before molecular testing. \r\nFather, died at 62 years, aortic dissection; sister (46 years), variant positive; cousin (51 years), aortic dissection, variant positive; cousin\'s daughter (21 years) and son (19 years), variant positive.\r\n\r\nPatient and his cousin developed dissection of ascending aorta at age 50 and 51 years, respectively. Both underwent valve-replacement surgery safely with no fragility-related complications. Patient 9 had skin striae but no other skeletal or skin features associated with MFS or vEDS, and his cousin (III-3) had atrophic scars and skin translucency. They were suspected to have LDS or FTAAD. The current NGS-based investigation revealed a heterozygous nonsense variant in COL3A1. Skin fibroblasts cultured from Patient 9 showed a decreased level of type III collagen production (22.7% of normal, Figure 3a). They were both diagnosed with vEDS, followed by initiation of celiprolol therapy. His cousin\'s asymptomatic daughter and son were also diagnosed molecularly and have begun regular vascular surveillance."	""	""	""	""	""	""	""	""	""	""	""	""	""	"50y"	""
"0000315740"	"01302"	"00424544"	"04305"	"Familial"	"27y"	"Patient positive for aortic dissection and spontaneous pneumothorax. Family history is significant for mother who died from aortic dissection."	""	""	""	""	""	""	""	""	""	""	""	""	""	"27y"	""
"0000315741"	"01302"	"00424545"	"04305"	"Familial"	"38y"	"Patient is positive for arterial rupture, easy bruising, thin/translucent skin, spontaneous pneumothorax, hypermobility of small joints, and early onset of varicose veins. Family history is significant for Father who died from sudden death after chest trauma."	""	""	""	""	""	""	""	""	""	""	""	""	""	"38y"	""
"0000315742"	"01302"	"00424546"	"04305"	"Familial"	""	"Patient was positive for arterial rupture and spontaneous pneumothorax. Family history significant for Father who died at 30 years due to arterial rupture.\r\n\r\nPatient died from a rupture of the right internal thoracic artery at age 15."	""	""	""	""	""	""	""	""	""	""	""	""	""	"15y"	""
"0000315743"	"01302"	"00424547"	"04305"	"Familial"	"37y"	"Patient positive for aterial rupture, uterine rupture, easy bruising, thin/translucent skin, characteristic facial features, tendon and muscle rupture and gingival recession/fragility. Family history is significant for a Daughter who has thin skin and is variant positive; son (10 years), thin skin, muscle rupture, variant positive.\r\ndeveloped an abdominal muscle rupture and was found to have an aortic aneurysm during her high school days, which ruptured at 32 weeks of gestation of her first pregnancy. She underwent an aortoplasty following an emergency cesarean section, which saved her life with no sequelae but resulted in severe hypoxic ischemic encephalopathy in her daughter. During her second pregnancy, she was suspected to have vEDS because of skin translucency and easy bruising in addition to the previous events. Her cultured skin fibroblasts showed a decreased amount of type III collagen production (29.5% of normal)."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000315744"	"01302"	"00424548"	"04305"	"Familial"	"28y"	"Patient positive for aortic rupture, arterial rupture, sigmoid colon perforation, easy bruising, thin/translucent skin, characteristic facial features, spontaneous pneumothorax, hypermobility of small joints, gingival recession/fragility, and early onset of varicose veins. Family history is significant for a son (6 years), easy bruising, spontaneous pneumothorax, thin skin, joint hypermobility, variant positive; daughter (6 years), thin skin, joint hypermobility, variant positive."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000315745"	"01302"	"00424549"	"04305"	"Familial"	"08y"	"Patient positive for easy bruising, thin/translucent skin, characteristic facial features, and hypermobility of small joints. Family history is significant fora Father who died at 25 years due to aortic dissection."	""	""	""	""	""	""	""	""	""	""	""	""	""	"8y"	""
"0000315746"	"01302"	"00424550"	"04305"	"Familial"	"25y"	"Patient positive for arterial dissection and rupture, easy bruising, thin/translucent skin, characteristic facial features, and spontaneous pneumothorax. Family history is significant for a Mother with no symptoms, variant negative (germline mosaicism suspected); maternal half-brother, easy bruising, hematoma, vascular fragility, variant positive."	""	""	""	""	""	""	""	""	""	""	""	""	""	"25y"	""
"0000315747"	"01302"	"00424551"	"04305"	"Familial"	"39y"	"Patient positive for arterial rupture, easy bruising, thin/translucent skin, characteristic facial features, spontaneous pneumothorax, acrogeria, hypermobility of small joints, and gingival recession/fragility. Family history is significant for a Daughter (6 years) who has easy bruising, variant positive."	""	""	""	""	""	""	""	""	""	""	""	""	""	"39y"	""
"0000315748"	"01302"	"00424552"	"04305"	"Familial"	"32y"	"Patient positive for easy bruising, thin/translucent skin, characteristic facial features, spontaneous pneumothorax, acrogeria, talipes equinovarus and hypermobility of small joints. No family history."	""	""	""	""	""	""	""	""	""	""	""	""	""	"32y"	""
"0000315749"	"01302"	"00424553"	"04305"	"Unknown"	"55y"	"Patient positive for arterial rupture, easy bruising, thin/translucent skin, characteristic facial features, hypermobility of small joints and gingival recession/fragility. No family history reported."	""	""	""	""	""	""	""	""	""	""	""	""	""	"55y"	""
"0000315750"	"01302"	"00424554"	"04305"	"Familial"	"38y"	"Patient positive for aortic and arterial dissection, arterial rupture, easy bruising, thin/translucent skin and acrogeria. Family history is significant for a Mother who died at 33 years from arterial rupture, variant positive."	""	""	""	""	""	""	""	""	""	""	""	""	""	"38y"	""
"0000315751"	"01302"	"00424555"	"04305"	"Unknown"	"42y"	"Patient positive for carotid-cavernous sinus fistula, easy bruising, characteristic facial features, hypermobility of small joints. No family history reported."	""	""	""	""	""	""	""	""	""	""	""	""	""	"42y"	""
"0000315752"	"01302"	"00424556"	"04305"	"Familial"	"30y"	"Patient positive for arterial dissection, easy bruising, thin/translucent skin, characteristic facial features, acrogeria and hypermobility of small joints. Family history is significant for a Mother with easy bruising, pulmonary valve stenosis, meniscus injury, variant positive."	""	""	""	""	""	""	""	""	""	""	""	""	""	"30y"	""
"0000315754"	"01302"	"00424558"	"04305"	"Familial"	"65y"	"Patient positive for aortic and arterial dissection, easy bruising, thin/translucent skin, hypermobility of small joints and early onset of varicose veins. Family history significant for a Daughter (37 years) with easy bruising, joint hypermobility, tendon and muscle rupture, variant positive."	""	""	""	""	""	""	""	""	""	""	""	""	""	"65y"	""
"0000315755"	"01302"	"00424559"	"04305"	"Familial"	"48y"	"Patient positive for aortic dissection, arterial rupture, easy bruising, thin/translucent skin, characteristic facial features, spontaneous pneumothorax, hypermobility of small joints and gingival recession/fragility. Family history is significant for a sister with hx of uterine rupture."	""	""	""	""	""	""	""	""	""	""	""	""	""	"48y"	""
"0000315756"	"01302"	"00424560"	"04305"	"Unknown"	"16y"	"Patient positive for thin/translucent skin, characteristic facial features, spontaneous pneumothorax and hypermobility of small joints. Family history is not reported."	""	""	""	""	""	""	""	""	""	""	""	""	""	"16y"	""
"0000315757"	"01302"	"00424561"	"04305"	"Familial"	"31y"	"Patient is positive for easy bruising, thin/translucent skin, characteristic facial features, spontaneous pneumothorax, and hypermobility of small joints. Family history of father with easy bruising."	""	""	""	""	""	""	""	""	""	""	""	""	""	"31y"	""
"0000315760"	"01302"	"00424562"	"04305"	"Familial"	"33y"	"Patient is positive for arterial dissection. Family history is significant for a Father who died at 54 years from aortic dissection; brother (29 years), subclavian artery aneurysm."	""	""	""	""	""	""	""	""	""	""	""	""	""	"33y"	""
"0000315987"	"01302"	"00424792"	"04305"	"Familial"	"43y"	"Positive for arterial rupture, easy bruising, spontaneous pneumothorax, characteristic facial features, acrogeria, talipes equinovarus,  hypermobility of small joints. FH significant for Son (14y) variant positive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000315988"	"01302"	"00424793"	"04305"	"Unknown"	"25y"	"Positive for arterial dissection, easy bruising, and hypermobility of small joints."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000315989"	"01302"	"00424794"	"04305"	"Unknown"	""	"Positive for arterial rupture and easy bruising."	""	""	""	""	""	""	""	""	""	""	""	""	""	"26y"	""
"0000315990"	"01302"	"00424795"	"04305"	"Familial"	"24y"	"Positive for thin translucent skin, spontaneous pneumothorax, and hypermobility of small joints. Father died at age 30 from aortic dissection."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000315991"	"01302"	"00424796"	"04305"	"Unknown"	"49y"	"Positive for easy bruising, characteristic facial features,  thin/translucent skin, acrogeria, congenital hip dislocation, hypermobility of small joints, tendon and muscle rupture, and gingival recession."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000315992"	"01302"	"00424797"	"04305"	"Unknown"	"17y"	"Positive for arterial rupture, spontaneous pneumothorax, and tendon and muscle rupture."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000315993"	"01302"	"00424798"	"04305"	"Familial"	"53y"	"Positive for carotid-cavernous sinus fistula, easy bruising, thin/translucent skin, characteristic facial features, acrogeria, tendon and muscle rupture and gingival recession. Family history significant for daughter and son variant positive."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000315994"	"01302"	"00424799"	"04305"	"Unknown"	"24y"	"Positive for easy bruising, thin/translucent skin, characteristic facial features, spontaneous pneumothorax, talipes equinovarus, and hypermobility of small joints."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321076"	"01302"	"00430267"	"04452"	"Unknown"	"22"	"Diagnosed with vEDS"	""	""	""	""	""	"22y"	""	""	""	""	""	""	"vEDS"	""	""
"0000321078"	"01302"	"00430269"	"04452"	"Familial, autosomal dominant"	"47y"	"arterial events"	""	""	""	""	""	"47y"	""	""	""	""	""	""	"EDSV"	"EDSV"	""
"0000321079"	"01302"	"00430271"	"04452"	"Familial, autosomal dominant"	"17y"	"arterial events"	""	""	""	""	""	"17y"	""	""	""	""	""	""	"EDSV"	"EDSV"	""
"0000321081"	"01302"	"00430272"	"04452"	"Familial, autosomal dominant"	"11y"	""	""	""	""	""	""	"11y"	""	""	""	""	""	""	"EDSV"	"EDSV"	""
"0000321103"	"01302"	"00430295"	"04452"	"Unknown"	""	"Arterial events"	""	""	""	""	""	"28y"	""	""	""	""	""	""	""	""	""
"0000321104"	"01302"	"00430296"	"04452"	"Unknown"	""	"bowel rupture: sigmoid colon age 46"	""	""	""	""	""	"52y"	""	""	""	""	""	""	""	""	""
"0000321108"	"01302"	"00430297"	"04452"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321109"	"01302"	"00430297"	"04452"	"Unknown"	""	"arterial events, aortic dissection age 64"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321110"	"01302"	"00430297"	"04452"	"Unknown"	""	"arterial events bowel rupture age 25"	""	""	""	""	""	"38y"	""	""	""	""	""	""	""	""	""
"0000321111"	"01302"	"00430298"	"04452"	"Familial, autosomal dominant"	""	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321112"	"01302"	"00430300"	"04452"	"Familial, autosomal dominant"	""	"arterial events"	""	""	""	""	""	"33y"	""	""	""	""	""	""	""	""	""
"0000321114"	"01302"	"00430301"	"04452"	"Unknown"	""	"arterial events bowel rupture age 22"	""	""	""	""	""	"37y"	""	""	""	""	""	""	""	""	""
"0000321116"	"01302"	"00430303"	"04452"	"Unknown"	""	"arterial events"	""	""	""	""	""	"53y"	""	""	""	""	""	""	""	""	""
"0000321117"	"01302"	"00430304"	"04452"	"Unknown"	""	"pneumothorax age 12 weeks"	""	""	""	""	""	"06y"	""	""	""	""	""	""	""	""	""
"0000321118"	"01302"	"00430305"	"04452"	"Familial, autosomal dominant"	""	"arterial events"	""	""	""	""	""	"27y"	""	""	""	""	""	""	""	""	""
"0000321119"	"01302"	"00430306"	"04452"	"Unknown"	""	"arterial events multiple pneumothorax age 26"	""	""	""	""	""	"29y"	""	""	""	""	""	""	""	""	""
"0000321120"	"01302"	"00430307"	"04452"	"Familial, autosomal dominant"	""	"bowel rupture: sigmoid colon age 45"	""	""	""	""	""	"51y"	""	""	""	""	""	""	""	""	""
"0000321121"	"01302"	"00430308"	"04452"	"Unknown"	""	"pneumothorax age 22"	""	""	""	""	""	"20y"	""	""	""	""	""	""	""	""	""
"0000321122"	"01302"	"00430309"	"04452"	"Unknown"	""	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321123"	"01302"	"00430310"	"04452"	"Familial, autosomal dominant"	""	"arterial events"	""	""	""	""	""	"33y"	""	""	""	""	""	""	""	""	""
"0000321124"	"01302"	"00430311"	"04452"	"Unknown"	""	"arterial events"	""	""	""	""	""	"46y"	""	""	""	""	""	""	""	""	""
"0000321125"	"01302"	"00430312"	"04452"	"Familial, autosomal dominant"	""	"arterial events"	""	""	""	""	""	"23y"	""	""	""	""	""	""	""	""	""
"0000321126"	"01302"	"00430313"	"04452"	"Unknown"	""	""	""	""	""	""	""	"38y"	""	""	""	""	""	""	""	""	""
"0000321127"	"01302"	"00430314"	"04452"	"Familial, autosomal dominant"	""	"arterial events pneumothorax age 25"	""	""	""	""	""	"22y"	""	""	""	""	""	""	""	""	""
"0000321128"	"01302"	"00430315"	"04452"	"Familial, autosomal dominant"	""	"arterial events splenectomy age 13, bowel: colon age 13"	""	""	""	""	""	"46y"	""	""	""	""	""	""	""	""	""
"0000321129"	"01302"	"00430316"	"04452"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	"09y"	""	""	""	""	""	""	""	""	""
"0000321130"	"01302"	"00430317"	"04452"	"Familial, autosomal dominant"	""	"arterial events bowel rupture age 15"	""	""	""	""	""	"26y"	""	""	""	""	""	""	""	""	""
"0000321131"	"01302"	"00430318"	"04452"	"Unknown"	""	""	""	""	""	""	""	"05y"	""	""	""	""	""	""	""	""	""
"0000321132"	"01302"	"00430319"	"04452"	"Unknown"	""	""	""	""	""	""	""	"03y"	""	""	""	""	""	""	""	""	""
"0000321133"	"01302"	"00430320"	"04452"	"Unknown"	""	"arterial events"	""	""	""	""	""	"18y"	""	""	""	""	""	""	""	""	""
"0000321134"	"01302"	"00430321"	"04452"	"Familial, autosomal dominant"	""	"arterial events"	""	""	""	""	""	"51y"	""	""	""	""	""	""	""	""	""
"0000321135"	"01302"	"00430322"	"04452"	"Familial, autosomal dominant"	""	"arterial events"	""	""	""	""	""	"33y"	""	""	""	""	""	""	""	""	""
"0000321136"	"01302"	"00430323"	"04452"	"Familial, autosomal dominant"	""	"arterial events"	""	""	""	""	""	"12y"	""	""	""	""	""	""	""	""	""
"0000321137"	"01302"	"00430324"	"04452"	"Unknown"	""	""	""	""	""	""	""	"18y"	""	""	""	""	""	""	""	""	""
"0000321138"	"01302"	"00430325"	"04452"	"Familial, autosomal dominant"	""	"arterial events"	""	""	""	""	""	"42y"	""	""	""	""	""	""	""	""	""
"0000321139"	"01302"	"00430326"	"04452"	"Unknown"	""	"bowel rupture: rectum age 11, colon age 12"	""	""	""	""	""	"11y"	""	""	""	""	""	""	""	""	""
"0000321140"	"01302"	"00430327"	"04452"	"Familial, autosomal dominant"	""	"bowel rupture at 16"	""	""	""	""	""	"22y"	""	""	""	""	""	""	""	""	""
"0000321141"	"01302"	"00430328"	"04452"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	"37y"	""	""	""	""	""	""	""	""	""
"0000321142"	"01302"	"00430329"	"04452"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	"28y"	""	""	""	""	""	""	""	""	""
"0000321143"	"01302"	"00430330"	"04452"	"Unknown"	""	"arterial events"	""	""	""	""	""	"47y"	""	""	""	""	""	""	""	""	""
"0000321144"	"01302"	"00430331"	"04452"	"Familial, autosomal dominant"	""	"arterial events"	""	""	""	""	""	"40y"	""	""	""	""	""	""	""	""	""
"0000321145"	"01302"	"00430332"	"04452"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	"11y"	""	""	""	""	""	""	""	""	""
"0000322118"	"05166"	"00315503"	"01602"	"Unknown"	""	"SUD"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322151"	"01302"	"00431576"	"04452"	"Unknown"	"28y"	"haemoptysis & haemothorax age 24"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322152"	"01302"	"00431577"	"04452"	"Familial, autosomal dominant"	"28y"	"arterial events bowel: large bowel age 29, small bowel age 29"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322153"	"01302"	"00431578"	"04452"	"Unknown"	"4y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322154"	"01302"	"00431579"	"04452"	"Familial, autosomal dominant"	"46y"	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322155"	"01302"	"00431580"	"04452"	"Unknown"	"15y"	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322156"	"01302"	"00431581"	"04452"	"Unknown"	"30y"	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322157"	"01302"	"00431582"	"04452"	"Familial, autosomal dominant"	"29y"	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322158"	"01302"	"00431583"	"04452"	"Familial, autosomal dominant"	""	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322159"	"01302"	"00431584"	"04452"	"Unknown"	"16y"	"bowel rupture age 16"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322160"	"01302"	"00431585"	"04452"	"Unknown"	"27y"	"arterial events bowel: sigmoid colon age 9, small bowel age 21"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322161"	"01302"	"00431586"	"04452"	"Unknown"	""	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322162"	"01302"	"00431587"	"04452"	"Familial, autosomal dominant"	"18y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322163"	"01302"	"00431588"	"04452"	"Familial, autosomal dominant"	"53y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322164"	"01302"	"00431589"	"04452"	"Familial, autosomal dominant"	"26y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322165"	"01302"	"00431590"	"04452"	"Familial, autosomal dominant"	"57y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322166"	"01302"	"00431591"	"04452"	"Unknown"	"47y"	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322167"	"01302"	"00431592"	"04452"	"Familial, autosomal dominant"	"7y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322168"	"01302"	"00431593"	"04452"	"Unknown"	"6y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322169"	"01302"	"00431594"	"04452"	"Unknown"	"43y"	"arterial events  haemoptysis - multiple episodes age 44"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322170"	"01302"	"00431595"	"04452"	"Familial, autosomal dominant"	""	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322171"	"01302"	"00431596"	"04452"	"Familial, autosomal dominant"	""	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322172"	"01302"	"00431597"	"04452"	"Unknown"	"20y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322173"	"01302"	"00431598"	"04452"	"Unknown"	"31y"	"arterial events bowel age 22"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322174"	"01302"	"00431599"	"04452"	"Unknown"	"1y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322175"	"01302"	"00431600"	"04452"	"Familial, autosomal dominant"	"18y"	"bowel rupture: large bowel age 12, small bowel age 13"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322176"	"01302"	"00431601"	"04452"	"Isolated (sporadic)"	"8y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322177"	"01302"	"00431602"	"04452"	"Familial, autosomal dominant"	"37y"	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322178"	"01302"	"00431603"	"04452"	"Familial, autosomal dominant"	""	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322179"	"01302"	"00431604"	"04452"	"Familial, autosomal dominant"	"16y"	"bowel rupture: sigmoid colon age 16"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322180"	"01302"	"00431605"	"04452"	"Isolated (sporadic)"	"56y"	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322181"	"01302"	"00431606"	"04452"	"Familial, autosomal dominant"	""	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322182"	"01302"	"00431607"	"04452"	"Familial, autosomal dominant"	"19y"	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322183"	"01302"	"00431608"	"04452"	"Unknown"	"27y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322184"	"01302"	"00431609"	"04452"	"Isolated (sporadic)"	"2y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322185"	"01302"	"00431610"	"04452"	"Isolated (sporadic)"	"38y"	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322186"	"01302"	"00431611"	"04452"	"Familial, autosomal dominant"	"2y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322187"	"01302"	"00431612"	"04452"	"Unknown"	"36y"	"arterial events bowel rupture age 36"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322188"	"01302"	"00431613"	"04452"	"Familial, autosomal dominant"	"33y"	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322189"	"01302"	"00431614"	"04452"	"Familial, autosomal dominant"	"44y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322190"	"01302"	"00431615"	"04452"	"Familial, autosomal dominant"	"42y"	"haemoptysis age 37"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322191"	"01302"	"00431616"	"04452"	"Familial, autosomal dominant"	"<0d"	""	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322192"	"01302"	"00431617"	"04452"	"Familial, autosomal dominant"	"52y"	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322193"	"01302"	"00431618"	"04452"	"Unknown"	"50y"	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322194"	"01302"	"00431619"	"04452"	"Isolated (sporadic)"	"<0d"	""	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322195"	"01302"	"00431620"	"04452"	"Unknown"	""	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322196"	"01302"	"00431621"	"04452"	"Familial, autosomal dominant"	"38y"	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322197"	"01302"	"00431622"	"04452"	"Unknown"	"30y"	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322198"	"01302"	"00431623"	"04452"	"Familial, autosomal dominant"	"29y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322199"	"01302"	"00431624"	"04452"	"Familial, autosomal dominant"	"52y"	"arterial events (diverticulae perforation age 54)"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322200"	"01302"	"00431625"	"04452"	"Unknown"	"30y"	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322201"	"01302"	"00431626"	"04452"	"Familial, autosomal dominant"	"45y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322202"	"01302"	"00431627"	"04452"	"Unknown"	"43y"	"arterial events bowel: descending colon age 19 & large bowel age 20"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322203"	"01302"	"00431628"	"04452"	"Familial, autosomal dominant"	"62y"	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322204"	"01302"	"00431629"	"04452"	"Familial, autosomal dominant"	"48y"	"arterial events pneumothorax age 38"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322205"	"01302"	"00431630"	"04452"	"Isolated (sporadic)"	"15y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322206"	"01302"	"00431631"	"04452"	"Isolated (sporadic)"	"12y"	"arterial events"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSV"	"Ehlers-Danlos, vascular type syndrome"	""
"0000322354"	"00169"	"00431785"	"04136"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"vascular EDS syndrome"	""
"0000322397"	"00198"	"00431828"	"04136"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"unclassified Mendelian soft connective tissue disorder"	""
"0000328319"	"04270"	"00438415"	"00006"	"Isolated (sporadic)"	""	"HP:0001250 seizures; HP:0012434 delayed social development; HP:0000750 delayed speech and language development; HP:0001263 global developmental delay; HP:0001270 motor delay; HP:0002317 unsteady gait; HP:0006872 cerebral hypoplasia; HP:0001324 muscle weakness; HP:0001762 talipes equinovarus"	"5y"	""	""	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000335907"	"00198"	"00446705"	"00006"	"Isolated (sporadic)"	"7y"	"pregnancy renal cysts and heart defect on fetal ultrasound; birth 36w induced vaginal delivery, apneic at delivery, responding to PPV, started on PGE for known COA, weight 1.990 kg (–1.49 SD), length 42 cm (–2.55 SD), OFC 28.5 cm (–3.2 SD); feeding problems during neonatal period with tube feedings, persistent FTT; 6y-height 93.47 cm (–5.11 SD), weight 11.79 kg (Z –5.71), OFC 41 cm (–8.7 SD); 3m-rolled over; 18m-crawl; 4y-walk; speech 20 words; no formal developmental assessment. attends elementary school receiving special education through the public school system. uses communication devices for expressive language. receptive language seems good; oval-shaped face with mild bitemporal constriction; fine hair; mild telecanthus, upslanting, short and narrow palpebral fissures hyperopia, mild bilateral optic nerve hypoplasia; prominent nose with low-hanging prominent columella; smooth philtrum; wide mouth with thin upper vermillion border; highly arched palate, widely spaced teeth of abnormal shape; unusual shape ears with underfolded helix and prominent anthelix; pointed chin with prognathia; normal thorax; bilateral talipes equinovarus; normal genitalia; no puberty; no epilepsy; CT brain suspected partial deficiency rostrum corpus callosum, non-specific foci left fronta/left occipital skull of unknown etiology; coarctation of aorta, mitral valve stenosis; multicystic dysplastic right kidney, history of multiple urinary tract infections, normal voiding cystourethrogram; normal bone age, normal growth hormone status; frequent otitis media status post tympanostomy, tube placement"	""	""	""	""	""	""	""	""	""	""	""	""	"GDACCF"	""	""
"0000337717"	"01302"	"00448536"	"02284"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000341584"	"01302"	"00452941"	"04693"	"Familial, autosomal dominant"	""	"descending aortic dissection (HP:0012499); acute type B aortic dissection (treated conservatively), followed by progression of dissection (diameter 54 mm) requiring surgical graft replacement; recurrence of dissection and dilation of aorta distal to graft after 12y necessitated further surgery and graft replacement; both surgeries were uncomplicated, suggesting relatively low vascular fragility in this patient compared to other vEDS individuals with pathogenic missense variants; son 34y-developed type A acute aortic dissection, followed by perioperative death"	"44y"	""	""	""	""	"63y"	""	"Descending aortic dissection (HP:0012499)"	""	""	""	""	"Vascular Ehlers-Danlos Syndrome"	"Acute type B aortic dissection"	""
"0000343421"	"01302"	"00454811"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000343527"	"01302"	"00454930"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000343913"	"01302"	"00455338"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000343914"	"01302"	"00455339"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000343915"	"01302"	"00455340"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000343916"	"01302"	"00455341"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000343917"	"01302"	"00455342"	"04746"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000343918"	"01302"	"00455343"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000343919"	"01302"	"00455344"	"04746"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000343936"	"01302"	"00455362"	"04746"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000343937"	"01302"	"00455363"	"04746"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000343939"	"01302"	"00455365"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000343942"	"01302"	"00455368"	"04746"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000343944"	"01302"	"00455370"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000343946"	"01302"	"00455372"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000343948"	"01302"	"00455374"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000343950"	"01302"	"00455376"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000343951"	"01302"	"00455377"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000344019"	"01302"	"00455456"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000344020"	"01302"	"00455457"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000344021"	"01302"	"00455458"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000344022"	"01302"	"00455459"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000344023"	"01302"	"00455460"	"04746"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000344024"	"01302"	"00455461"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000344025"	"01302"	"00455462"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000344026"	"01302"	"00455463"	"04746"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346561"	"01302"	"00458116"	"04746"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346562"	"01302"	"00458117"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346563"	"01302"	"00458118"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346564"	"01302"	"00458119"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346565"	"01302"	"00458120"	"04746"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346566"	"01302"	"00458121"	"04746"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346567"	"01302"	"00458122"	"04746"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346568"	"01302"	"00458123"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346569"	"01302"	"00458124"	"04746"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346570"	"01302"	"00458125"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346571"	"01302"	"00458126"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346572"	"01302"	"00458127"	"04746"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346573"	"01302"	"00458128"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346574"	"01302"	"00458129"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346575"	"01302"	"00458130"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346576"	"01302"	"00458131"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346577"	"01302"	"00458132"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346578"	"01302"	"00458133"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346579"	"01302"	"00458134"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346580"	"01302"	"00458135"	"04746"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346581"	"01302"	"00458136"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346590"	"01302"	"00458151"	"02544"	"-"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346602"	"01302"	"00458166"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000346603"	"01302"	"00458167"	"04746"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 1449
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000050648"	"00050703"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000081404"	"00081291"	"1"	"01741"	"01741"	"2016-09-29 13:02:24"	""	""	"SEQ"	"DNA"	""	""
"0000104489"	"00104018"	"1"	"00587"	"00006"	"2017-04-28 08:15:46"	""	""	"SEQ-NG"	"DNA"	""	""
"0000164770"	"00163906"	"1"	"01807"	"01807"	"2018-04-23 08:51:01"	""	""	"SEQ"	"DNA"	""	""
"0000209676"	"00208627"	"1"	"01164"	"01164"	"2018-12-12 12:06:13"	""	""	"SEQ-NG"	"DNA"	""	""
"0000290011"	"00288843"	"1"	"03600"	"03600"	"2020-02-22 16:34:32"	""	""	"?"	"DNA"	"blood"	"whole exome sequencing"
"0000290212"	"00289044"	"1"	"01741"	"01741"	"2020-02-27 11:09:04"	""	""	"SEQ-NG"	"DNA"	""	""
"0000293672"	"00292504"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293673"	"00292505"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293674"	"00292506"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293675"	"00292507"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293676"	"00292508"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293677"	"00292509"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293678"	"00292510"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293679"	"00292511"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296346"	"00295178"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296463"	"00295295"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000297503"	"00296392"	"1"	"01164"	"01164"	"2020-04-06 09:48:03"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000302205"	"00301083"	"1"	"01164"	"01164"	"2020-05-07 09:59:01"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000305891"	"00304762"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000316682"	"00315503"	"1"	"01602"	"01602"	"2020-10-27 16:34:01"	"01602"	"2023-02-15 09:42:08"	"SEQ-NG"	"DNA"	""	""
"0000319377"	"00318196"	"1"	"00736"	"00736"	"2014-10-03 14:32:02"	"00085"	"2015-04-13 10:04:47"	"SEQ"	"DNA"	""	""
"0000319378"	"00318197"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319379"	"00318198"	"1"	"00085"	"00085"	"2020-02-26 12:47:04"	"00085"	"2020-02-26 12:47:15"	"SEQ-NG;PCRm;PCR;arraySEQ"	"DNA"	""	""
"0000319380"	"00318199"	"1"	"00736"	"00736"	"2014-10-03 09:27:21"	"00085"	"2015-04-13 10:04:58"	"SEQ"	"DNA"	""	""
"0000319381"	"00318200"	"1"	"00085"	"00085"	"2017-03-16 14:39:20"	"00085"	"2017-03-16 14:43:42"	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000319382"	"00318201"	"1"	"00085"	"00085"	"2019-12-20 10:24:30"	""	""	"SEQ"	"DNA"	""	""
"0000319383"	"00318202"	"1"	"00085"	"00085"	"2020-01-14 11:16:59"	"00085"	"2020-01-14 15:15:24"	"PCR;SEQ"	"DNA"	""	""
"0000319384"	"00318203"	"1"	"03711"	"03711"	"2015-05-07 21:03:03"	"00085"	"2019-08-13 14:45:17"	"SEQ-NG"	"DNA"	""	""
"0000319385"	"00318204"	"1"	"00736"	"00736"	"2013-07-31 09:49:29"	"00085"	"2020-02-10 16:11:24"	"SEQ"	"DNA"	""	""
"0000319386"	"00318205"	"1"	"01233"	"01233"	"2018-04-07 22:13:36"	"00085"	"2020-02-17 12:57:01"	"SEQ-NG"	"DNA"	""	""
"0000319387"	"00318206"	"1"	"01233"	"01233"	"2018-04-07 22:58:14"	""	""	"SEQ-NG"	"DNA"	""	""
"0000319388"	"00318207"	"1"	"03704"	"00085"	"2009-06-18 08:41:20"	"00085"	"2014-06-18 13:12:56"	"PCR;SEQ"	"DNA"	""	""
"0000319389"	"00318208"	"1"	"00085"	"00085"	"2009-05-27 09:38:02"	"00085"	"2017-03-16 14:22:15"	"RT-PCR;SEQ"	"RNA"	""	""
"0000319390"	"00318209"	"1"	"00085"	"00085"	"2009-03-11 14:52:58"	"00085"	"2009-03-11 14:57:35"	"RT-PCR;SEQ"	"RNA"	""	""
"0000319391"	"00318210"	"1"	"00085"	"00085"	"2020-01-16 16:47:05"	"00085"	"2020-02-06 14:47:12"	"MLPA;RT-PCR;SEQ"	"DNA"	""	""
"0000319392"	"00318211"	"1"	"00736"	"00736"	"2014-10-03 09:36:17"	"00085"	"2020-02-10 16:12:23"	"SEQ"	"DNA"	""	""
"0000319393"	"00318212"	"1"	"00085"	"00085"	"2009-07-02 13:47:20"	"00085"	"2011-02-21 14:23:50"	"PCR;SEQ"	"DNA"	""	""
"0000319394"	"00318213"	"1"	"00085"	"00085"	"2020-02-17 14:03:06"	""	""	"SEQ-NG;PCRm"	"DNA"	""	""
"0000319395"	"00318214"	"1"	"00085"	"00085"	"2011-07-06 02:31:28"	"00085"	"2019-05-14 15:22:45"	"SEQ;MCA"	"DNA"	""	""
"0000319396"	"00318215"	"1"	"00736"	"00736"	"2013-07-31 12:44:36"	"00085"	"2020-02-10 16:13:21"	"SEQ"	"DNA"	""	""
"0000319397"	"00318216"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319398"	"00318217"	"1"	"03704"	"00085"	"2009-03-11 15:17:23"	"00085"	"2014-06-18 13:16:14"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319399"	"00318218"	"1"	"03704"	"00085"	"2009-03-11 15:18:16"	"00085"	"2014-06-18 13:17:52"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319400"	"00318219"	"1"	"03704"	"00085"	"2009-03-11 15:19:41"	"00085"	"2014-07-07 09:45:45"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319401"	"00318220"	"1"	"03704"	"00085"	"2009-03-11 15:20:20"	"00085"	"2014-06-18 13:19:49"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319402"	"00318221"	"1"	"03704"	"00085"	"2009-03-11 15:21:03"	"00085"	"2014-06-18 13:22:32"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319403"	"00318222"	"1"	"03704"	"00085"	"2009-03-11 15:22:11"	"00085"	"2014-06-18 13:23:43"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319404"	"00318223"	"1"	"03704"	"00085"	"2009-03-11 15:23:09"	"00085"	"2014-06-18 13:26:27"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319405"	"00318224"	"1"	"00475"	"00475"	"2010-01-19 22:34:23"	""	""	"SEQ"	"DNA"	""	""
"0000319406"	"00318225"	"1"	"00085"	"00085"	"2012-06-06 16:10:03"	"00085"	"2012-06-06 16:40:46"	"?"	"?"	""	""
"0000319407"	"00318226"	"1"	"00736"	"00736"	"2013-07-30 13:03:38"	"00085"	"2020-02-10 16:14:58"	"SEQ"	"DNA"	""	""
"0000319408"	"00318227"	"1"	"03704"	"00085"	"2014-04-07 13:28:34"	"00085"	"2014-06-18 13:27:19"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319409"	"00318228"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"SEQ"	"DNA"	""	""
"0000319410"	"00318229"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"SEQ"	"DNA"	""	""
"0000319411"	"00318230"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319412"	"00318231"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319413"	"00318232"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319414"	"00318233"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"SEQ"	"DNA"	""	""
"0000319415"	"00318234"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319416"	"00318235"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319417"	"00318236"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"SEQ"	"DNA"	""	""
"0000319418"	"00318237"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319419"	"00318238"	"1"	"00736"	"00736"	"2014-10-03 09:48:11"	"00085"	"2020-02-10 16:18:57"	"SEQ"	"DNA"	""	""
"0000319420"	"00318239"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319421"	"00318240"	"1"	"03704"	"00085"	"2009-03-11 15:11:06"	"00085"	"2014-06-18 13:28:22"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319422"	"00318241"	"1"	"03704"	"00085"	"2008-07-04 14:58:02"	"00085"	"2014-06-18 13:30:12"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319423"	"00318242"	"1"	"00736"	"00736"	"2013-07-30 13:24:31"	"00085"	"2020-02-10 16:15:37"	"SEQ"	"DNA"	""	""
"0000319424"	"00318243"	"1"	"03707"	"03707"	"2013-07-12 19:38:55"	"00085"	"2014-04-30 09:32:10"	"IHC;SEQ;Western"	"DNA"	""	""
"0000319425"	"00318244"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319426"	"00318245"	"1"	"00475"	"00475"	"2010-01-19 23:02:19"	""	""	"SEQ"	"DNA"	""	""
"0000319427"	"00318246"	"1"	"03704"	"00085"	"2009-06-18 08:50:43"	"00085"	"2014-06-18 13:31:44"	"RT-PCR;SEQ;HD"	"RNA"	""	""
"0000319428"	"00318247"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319429"	"00318248"	"1"	"01233"	"01233"	"2018-04-07 22:19:09"	"00085"	"2020-02-17 12:57:43"	"SEQ-NG"	"DNA"	""	""
"0000319430"	"00318249"	"1"	"00736"	"00736"	"2013-07-31 09:07:49"	"00085"	"2020-02-10 16:15:56"	"SEQ"	"DNA"	""	""
"0000319431"	"00318250"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319432"	"00318251"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319433"	"00318252"	"1"	"00085"	"00085"	"2019-12-17 11:18:47"	"00085"	"2019-12-17 11:23:53"	"?"	"DNA"	""	""
"0000319434"	"00318253"	"1"	"00736"	"00085"	"2012-06-07 10:09:19"	"00085"	"2020-02-12 11:49:13"	"PCR;SEQ"	"DNA"	""	""
"0000319435"	"00318254"	"1"	"00736"	"00085"	"2012-06-07 10:10:22"	"00085"	"2020-02-11 16:28:01"	"PCR;SEQ"	"DNA"	""	""
"0000319436"	"00318255"	"1"	"00736"	"00736"	"2014-10-03 09:45:29"	"00085"	"2020-02-10 16:17:29"	"SEQ"	"DNA"	""	""
"0000319437"	"00318256"	"1"	"03704"	"00085"	"2009-03-11 15:26:52"	"00085"	"2014-06-18 13:44:29"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319438"	"00318257"	"1"	"03704"	"00085"	"2009-06-18 15:03:34"	"00085"	"2014-06-18 13:43:12"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319439"	"00318258"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319440"	"00318259"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319441"	"00318260"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319442"	"00318261"	"1"	"00736"	"00736"	"2014-10-03 09:31:40"	"00085"	"2020-02-10 16:17:05"	"SEQ"	"DNA"	""	""
"0000319443"	"00318262"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319444"	"00318263"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319445"	"00318264"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319446"	"00318265"	"1"	"00085"	"00085"	"2009-06-18 16:21:50"	"00085"	"2013-09-13 13:10:37"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319447"	"00318266"	"1"	"00085"	"00085"	"2009-06-19 09:23:43"	"00085"	"2011-02-21 14:48:22"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319448"	"00318267"	"1"	"03704"	"00085"	"2009-06-18 09:31:11"	"00085"	"2014-06-18 09:17:43"	"RT-PCR;SEQ;Southern"	"DNA;RNA"	""	""
"0000319449"	"00318268"	"1"	"00085"	"00085"	"2019-08-15 09:39:40"	""	""	"SEQ-NG"	"DNA"	""	""
"0000319450"	"00318269"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319451"	"00318270"	"1"	"03705"	"03705"	"2018-06-20 13:12:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319452"	"00318271"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319453"	"00318272"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319454"	"00318273"	"1"	"03704"	"00085"	"2009-03-11 15:29:35"	"00085"	"2014-06-18 09:28:53"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319455"	"00318274"	"1"	"03704"	"00085"	"2009-03-13 13:54:23"	"00085"	"2014-06-18 13:50:04"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319456"	"00318275"	"1"	"00085"	"00085"	"2009-03-13 15:56:41"	"00085"	"2011-02-21 15:18:30"	"NUC;RT-PCR;SEQ"	"RNA"	""	""
"0000319457"	"00318276"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319458"	"00318277"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319459"	"00318278"	"1"	"00085"	"00085"	"2020-01-14 15:12:56"	"00085"	"2020-01-20 10:21:06"	"PCR;SEQ"	"DNA"	""	""
"0000319460"	"00318279"	"1"	"03705"	"03705"	"2018-06-20 13:55:23"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319461"	"00318280"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319462"	"00318281"	"1"	"00085"	"00085"	"2009-03-17 15:07:44"	"00085"	"2011-02-21 15:19:50"	"NUC;RT-PCR;SEQ"	"RNA"	""	""
"0000319463"	"00318282"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319464"	"00318283"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319465"	"00318284"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319466"	"00318285"	"1"	"03704"	"00085"	"2009-06-18 15:11:34"	"00085"	"2014-06-18 15:09:19"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319467"	"00318286"	"1"	"03704"	"00085"	"2009-06-18 15:12:47"	"00085"	"2014-06-18 15:18:43"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319468"	"00318287"	"1"	"00085"	"00085"	"2009-06-19 08:59:24"	"00085"	"2011-02-21 15:24:37"	"RT-PCR;SEQ"	"RNA"	""	""
"0000319469"	"00318288"	"1"	"03704"	"00085"	"2009-06-19 09:02:37"	"00085"	"2014-06-18 15:16:44"	"PCR;SEQ"	"DNA"	""	""
"0000319470"	"00318289"	"1"	"03707"	"03707"	"2013-07-12 19:29:54"	"00085"	"2014-04-30 09:28:44"	"IHC;SEQ;Western"	"DNA"	""	""
"0000319471"	"00318290"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319472"	"00318291"	"1"	"00085"	"00085"	"2020-01-14 15:19:39"	"00085"	"2020-02-11 15:43:55"	"PCR;SEQ"	"DNA"	""	""
"0000319473"	"00318292"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319474"	"00318293"	"1"	"00736"	"00736"	"2013-07-31 09:15:34"	"00085"	"2020-02-10 16:17:49"	"SEQ"	"DNA"	""	""
"0000319475"	"00318294"	"1"	"03705"	"03705"	"2018-06-20 13:00:32"	"00085"	"2018-06-22 09:23:57"	"PCR;SEQ"	"DNA"	""	""
"0000319476"	"00318295"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319477"	"00318296"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319478"	"00318297"	"1"	"00736"	"00085"	"2012-06-07 10:14:49"	"00085"	"2020-02-11 16:13:28"	"PCR;SEQ"	"DNA"	""	""
"0000319479"	"00318298"	"1"	"00085"	"00085"	"2009-06-18 10:53:12"	"00085"	"2011-08-25 13:22:39"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319480"	"00318299"	"1"	"03704"	"00085"	"2009-03-17 15:15:39"	"00085"	"2014-06-18 15:23:19"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319481"	"00318300"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319482"	"00318301"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319483"	"00318302"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319484"	"00318303"	"1"	"00475"	"00475"	"2010-01-19 22:50:23"	""	""	"SEQ"	"DNA"	""	""
"0000319485"	"00318304"	"1"	"00736"	"00085"	"2012-06-07 10:03:34"	"00085"	"2020-02-12 09:21:08"	"PCR;SEQ"	"DNA"	""	""
"0000319486"	"00318305"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319487"	"00318306"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319488"	"00318307"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319489"	"00318308"	"1"	"03707"	"03707"	"2013-07-12 19:56:21"	"00085"	"2014-04-30 09:36:19"	"IHC;SEQ;Western"	"DNA"	""	""
"0000319490"	"00318309"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319491"	"00318310"	"1"	"00085"	"00085"	"2020-01-14 15:22:35"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319492"	"00318311"	"1"	"00085"	"00085"	"2012-03-02 15:21:51"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319493"	"00318312"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319494"	"00318313"	"1"	"03704"	"00085"	"2009-03-17 15:19:38"	"00085"	"2014-06-18 15:26:09"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319495"	"00318314"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319496"	"00318315"	"1"	"03704"	"00085"	"2009-03-17 15:24:28"	"00085"	"2014-06-18 15:28:08"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319497"	"00318316"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319498"	"00318317"	"1"	"03704"	"00085"	"2009-06-18 15:14:25"	"00085"	"2014-06-18 15:30:35"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319499"	"00318318"	"1"	"00736"	"00736"	"2013-07-30 09:57:29"	"00085"	"2020-02-10 16:22:11"	"SEQ"	"DNA"	""	""
"0000319500"	"00318319"	"1"	"03704"	"00085"	"2009-06-18 15:16:22"	"00085"	"2014-06-18 15:34:30"	"PCR;RT-PCR;SEQ"	"RNA"	""	""
"0000319501"	"00318320"	"1"	"03704"	"00085"	"2009-06-18 15:18:19"	"00085"	"2014-06-18 15:36:03"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319502"	"00318321"	"1"	"00085"	"00085"	"2009-06-19 09:08:17"	"00085"	"2011-02-21 16:00:07"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319503"	"00318322"	"1"	"00736"	"00736"	"2013-07-31 09:05:18"	"00085"	"2020-02-10 16:22:46"	"SEQ"	"DNA"	""	""
"0000319504"	"00318323"	"1"	"00085"	"00085"	"2020-02-11 16:15:41"	"00085"	"2020-07-01 16:57:12"	"MLPA;RT-PCR;SEQ"	"DNA"	""	""
"0000319505"	"00318324"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319506"	"00318325"	"1"	"00085"	"00085"	"2012-03-02 15:25:43"	"00085"	"2020-01-09 13:28:11"	"PCR;SEQ"	"DNA"	""	""
"0000319507"	"00318326"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319508"	"00318327"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"SEQ"	"DNA"	""	""
"0000319509"	"00318328"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319510"	"00318329"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319511"	"00318330"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"SEQ"	"DNA"	""	""
"0000319512"	"00318331"	"1"	"00085"	"00085"	"2020-01-07 11:04:31"	""	""	"?"	"DNA"	""	""
"0000319513"	"00318332"	"1"	"03704"	"00085"	"2009-03-17 15:46:44"	"00085"	"2014-06-18 15:47:54"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319514"	"00318333"	"1"	"00085"	"00085"	"2015-04-28 08:35:16"	"00085"	"2015-04-28 08:47:23"	"SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000319515"	"00318334"	"1"	"00085"	"00085"	"2015-02-04 16:06:27"	""	""	"SEQ"	"DNA"	""	""
"0000319516"	"00318335"	"1"	"00736"	"00736"	"2014-10-03 09:51:40"	""	""	"SEQ"	"DNA"	""	""
"0000319517"	"00318336"	"1"	"00085"	"00085"	"2019-09-12 15:44:18"	"00085"	"2020-02-06 10:11:22"	"SEQ"	"DNA"	""	""
"0000319518"	"00318337"	"1"	"00085"	"00085"	"2019-09-12 15:57:29"	""	""	"SEQ"	"DNA"	""	""
"0000319519"	"00318338"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319520"	"00318339"	"1"	"03704"	"00085"	"2009-03-17 15:58:05"	"00085"	"2014-06-18 15:49:07"	"RT-PCR;Southern;SSCA"	"RNA"	""	""
"0000319521"	"00318340"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319522"	"00318341"	"1"	"00085"	"00085"	"2014-11-05 11:30:28"	""	""	"SEQ"	"DNA"	""	""
"0000319523"	"00318342"	"1"	"00736"	"00736"	"2014-10-06 15:41:33"	"00085"	"2020-02-10 16:24:51"	"SEQ"	"DNA"	""	""
"0000319524"	"00318343"	"1"	"00085"	"00085"	"2020-02-11 16:16:36"	""	""	"MLPA;RT-PCR;SEQ"	"DNA"	""	""
"0000319525"	"00318344"	"1"	"03705"	"03705"	"2018-06-20 11:49:07"	""	""	"MLPA;PCR;SEQ"	"DNA"	""	""
"0000319526"	"00318345"	"1"	"00085"	"00085"	"2020-01-14 15:45:23"	""	""	"PAGE;SEQ"	"DNA"	""	""
"0000319527"	"00318346"	"1"	"03704"	"00085"	"2009-03-17 16:00:44"	"00085"	"2014-06-18 15:50:18"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319528"	"00318347"	"1"	"03704"	"00085"	"2009-03-17 16:01:56"	"00085"	"2014-06-18 15:51:14"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319529"	"00318348"	"1"	"03704"	"00085"	"2009-03-17 16:03:33"	"00085"	"2014-06-18 15:52:36"	"RT-PCR;Southern;SSCA"	"RNA"	""	""
"0000319530"	"00318349"	"1"	"03705"	"03705"	"2018-06-20 13:48:00"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319531"	"00318350"	"1"	"03704"	"00085"	"2009-03-17 16:06:18"	"00085"	"2014-06-18 15:53:57"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319532"	"00318351"	"1"	"03704"	"00085"	"2009-03-17 16:16:06"	"00085"	"2014-06-18 15:55:18"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319533"	"00318352"	"1"	"00085"	"00085"	"2020-01-14 09:47:11"	""	""	"RT-PCR"	"DNA"	""	""
"0000319534"	"00318353"	"1"	"03704"	"00085"	"2009-03-17 16:18:25"	"00085"	"2014-06-18 16:01:25"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319535"	"00318354"	"1"	"00085"	"00085"	"2011-11-01 15:53:43"	"00085"	"2014-04-03 15:51:09"	"RT-PCR;SEQ"	"RNA"	""	""
"0000319536"	"00318355"	"1"	"00736"	"00085"	"2012-06-07 10:21:39"	"00085"	"2020-02-12 12:07:02"	"PCR;SEQ"	"DNA"	""	""
"0000319537"	"00318356"	"1"	"00736"	"00085"	"2012-06-07 10:22:46"	"00085"	"2020-02-11 16:35:58"	"PCR;SEQ"	"DNA"	""	""
"0000319538"	"00318357"	"1"	"03707"	"03707"	"2013-07-12 19:58:23"	"00085"	"2014-04-30 09:47:12"	"IHC;SEQ;Western"	"DNA"	""	""
"0000319539"	"00318358"	"1"	"03704"	"00085"	"2014-04-07 13:41:43"	"00085"	"2014-06-18 16:00:02"	"PCR;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000319540"	"00318359"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319541"	"00318360"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319542"	"00318361"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319543"	"00318362"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"SEQ"	"DNA"	""	""
"0000319544"	"00318363"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319545"	"00318364"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"SEQ"	"DNA"	""	""
"0000319546"	"00318365"	"1"	"00736"	"00736"	"2014-10-03 09:54:00"	"00085"	"2020-02-10 16:25:43"	"SEQ"	"DNA"	""	""
"0000319547"	"00318366"	"1"	"00736"	"00736"	"2014-10-06 15:44:52"	"00085"	"2020-02-10 16:25:56"	"SEQ"	"DNA"	""	""
"0000319548"	"00318367"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319549"	"00318368"	"1"	"00085"	"00085"	"2009-03-17 16:21:26"	"00085"	"2011-02-22 09:20:12"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319550"	"00318369"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319551"	"00318370"	"1"	"03704"	"00085"	"2011-02-11 16:51:45"	"00085"	"2014-06-18 16:03:36"	"PCR;SEQ"	"DNA"	""	""
"0000319552"	"00318371"	"1"	"03707"	"03707"	"2013-07-12 19:34:13"	"00085"	"2014-04-30 09:28:08"	"IHC;SEQ;Western"	"DNA"	""	""
"0000319553"	"00318372"	"1"	"00085"	"00085"	"2020-01-15 15:37:28"	""	""	"SEQ-NG;PCR"	"DNA"	""	""
"0000319554"	"00318373"	"1"	"00085"	"00085"	"2009-03-17 16:24:58"	"00085"	"2011-08-24 13:51:51"	"PCR;SEQ"	"DNA"	""	""
"0000319555"	"00318374"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319556"	"00318375"	"1"	"00085"	"00085"	"2020-01-16 16:57:11"	""	""	"MLPA;RT-PCR;SEQ"	"DNA"	""	""
"0000319557"	"00318376"	"1"	"00085"	"00085"	"2009-03-18 13:15:46"	"00085"	"2011-08-24 13:55:25"	"RT-PCR;SEQ;NUC"	"RNA"	""	""
"0000319558"	"00318377"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319559"	"00318378"	"1"	"03704"	"00085"	"2011-02-15 16:40:36"	"00085"	"2014-06-19 08:18:52"	"PCR;SEQ"	"DNA"	""	""
"0000319560"	"00318379"	"1"	"00085"	"00085"	"2020-01-14 15:48:13"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319561"	"00318380"	"1"	"00085"	"00085"	"2020-01-09 15:48:18"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000319562"	"00318381"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319563"	"00318382"	"1"	"00085"	"00085"	"2009-03-18 13:26:43"	"00085"	"2014-06-19 08:20:55"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319564"	"00318383"	"1"	"00085"	"00085"	"2009-06-19 08:31:53"	"00085"	"2011-08-24 13:57:10"	"?"	"?"	""	""
"0000319565"	"00318384"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319566"	"00318385"	"1"	"00085"	"00085"	"2020-01-15 16:10:54"	""	""	"SEQ-NG;PCR"	"DNA"	""	""
"0000319567"	"00318386"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319568"	"00318387"	"1"	"00736"	"00736"	"2014-10-03 09:58:23"	"00085"	"2020-02-12 09:35:12"	"SEQ"	"DNA"	""	""
"0000319569"	"00318388"	"1"	"00085"	"00085"	"2015-02-04 16:13:06"	"00085"	"2015-02-04 16:19:04"	"SEQ"	"DNA"	""	""
"0000319570"	"00318389"	"1"	"00085"	"00085"	"2010-11-26 08:35:37"	"00085"	"2011-08-25 11:58:53"	"?"	"?"	""	""
"0000319571"	"00318390"	"1"	"00736"	"00736"	"2013-07-31 13:27:22"	"00085"	"2015-04-13 10:10:55"	"SEQ"	"DNA"	""	""
"0000319572"	"00318391"	"1"	"00736"	"00736"	"2014-10-06 16:06:51"	"00085"	"2015-04-13 10:11:06"	"SEQ"	"DNA"	""	""
"0000319573"	"00318392"	"1"	"01233"	"01233"	"2018-04-07 23:07:15"	"00085"	"2020-02-17 13:01:02"	"SEQ-NG"	"DNA"	""	""
"0000319574"	"00318393"	"1"	"00736"	"00736"	"2014-10-03 10:04:59"	"00085"	"2020-02-11 16:44:18"	"SEQ"	"DNA"	""	""
"0000319575"	"00318394"	"1"	"00736"	"00736"	"2014-10-03 10:06:40"	"00085"	"2020-02-12 09:30:52"	"SEQ"	"DNA"	""	""
"0000319576"	"00318395"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319577"	"00318396"	"1"	"00085"	"00085"	"2012-03-02 15:28:27"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319578"	"00318397"	"1"	"00736"	"00736"	"2013-07-31 12:46:11"	"00085"	"2020-02-10 16:29:44"	"SEQ"	"DNA"	""	""
"0000319579"	"00318398"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319580"	"00318399"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"SEQ"	"DNA"	""	""
"0000319581"	"00318400"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319582"	"00318401"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319583"	"00318402"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319584"	"00318403"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319585"	"00318404"	"1"	"00736"	"00736"	"2013-07-30 10:26:36"	"00085"	"2020-02-10 16:29:19"	"SEQ"	"DNA"	""	""
"0000319586"	"00318405"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319587"	"00318406"	"1"	"00085"	"00085"	"2009-03-18 13:44:31"	"00085"	"2011-08-24 13:57:57"	"?"	"DNA"	""	""
"0000319588"	"00318407"	"1"	"00085"	"00085"	"2011-08-24 15:56:29"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000319589"	"00318408"	"1"	"00475"	"00475"	"2010-01-19 22:28:41"	""	""	"SEQ"	"DNA"	""	""
"0000319590"	"00318409"	"1"	"00085"	"00085"	"2009-06-19 09:10:47"	"00085"	"2011-08-24 14:00:39"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319591"	"00318410"	"1"	"00085"	"00085"	"2009-06-19 09:26:06"	"00085"	"2011-08-24 14:01:13"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319592"	"00318411"	"1"	"00736"	"00085"	"2012-06-07 10:36:01"	"00085"	"2020-02-10 16:30:25"	"PCR;SEQ"	"DNA"	""	""
"0000319593"	"00318412"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319594"	"00318413"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319595"	"00318414"	"1"	"00085"	"00085"	"2020-02-11 16:21:30"	""	""	"MLPA;RT-PCR;SEQ"	"DNA"	""	""
"0000319596"	"00318415"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319597"	"00318416"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319598"	"00318417"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319599"	"00318418"	"1"	"00085"	"00085"	"2009-03-18 16:36:41"	"00085"	"2011-08-24 14:02:23"	"RT-PCR;SEQ"	"RNA"	""	""
"0000319600"	"00318419"	"1"	"03704"	"00085"	"2014-06-18 09:39:20"	"00085"	"2014-06-18 09:40:20"	"PCR;SEQ"	"DNA"	""	""
"0000319601"	"00318420"	"1"	"00085"	"00085"	"2010-07-09 13:13:48"	"00085"	"2011-08-24 14:16:46"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319602"	"00318421"	"1"	"00085"	"00085"	"2012-06-08 13:59:17"	"00085"	"2012-06-08 13:59:48"	"PCR;SEQ"	"DNA"	""	""
"0000319603"	"00318422"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319604"	"00318423"	"1"	"00736"	"00736"	"2013-07-31 09:37:36"	"00085"	"2020-02-10 16:30:02"	"SEQ"	"DNA"	""	""
"0000319605"	"00318424"	"1"	"00085"	"00085"	"2020-02-11 16:23:10"	""	""	"MLPA;RT-PCR;SEQ"	"DNA"	""	""
"0000319606"	"00318425"	"1"	"00085"	"00085"	"2020-01-14 15:53:09"	"00085"	"2020-02-11 14:57:06"	"MLPA;RT-PCR;SEQ"	"DNA"	""	""
"0000319607"	"00318426"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319608"	"00318427"	"1"	"03704"	"00085"	"2014-05-01 14:05:28"	"00085"	"2014-06-19 08:26:56"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319609"	"00318428"	"1"	"00736"	"00085"	"2012-06-07 10:29:49"	"00085"	"2020-02-10 16:30:52"	"PCR;SEQ"	"DNA"	""	""
"0000319610"	"00318429"	"1"	"00085"	"00085"	"2013-05-22 13:03:59"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319611"	"00318430"	"1"	"00736"	"00736"	"2013-07-31 14:46:34"	"00085"	"2013-08-01 12:32:22"	"SEQ"	"DNA"	""	""
"0000319612"	"00318431"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319613"	"00318432"	"1"	"00736"	"00736"	"2014-10-06 15:43:02"	"00085"	"2020-02-10 16:31:16"	"SEQ"	"DNA"	""	""
"0000319614"	"00318433"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319615"	"00318434"	"1"	"00085"	"00085"	"2020-01-14 15:54:44"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319616"	"00318435"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319617"	"00318436"	"1"	"03704"	"00085"	"2009-06-18 15:20:44"	"00085"	"2014-06-19 08:30:09"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319618"	"00318437"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319619"	"00318438"	"1"	"00736"	"00736"	"2013-07-30 14:42:36"	"00085"	"2020-01-17 10:27:25"	"SEQ"	"DNA"	""	""
"0000319620"	"00318439"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319621"	"00318440"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319622"	"00318441"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319623"	"00318442"	"1"	"00085"	"00085"	"2019-12-19 10:04:03"	""	""	"SEQ-NG"	"DNA"	""	""
"0000319624"	"00318443"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319625"	"00318444"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319626"	"00318445"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319627"	"00318446"	"1"	"00085"	"00085"	"2012-03-02 15:31:25"	"00085"	"2020-01-09 13:28:46"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319628"	"00318447"	"1"	"00736"	"00736"	"2013-07-31 14:44:41"	"00085"	"2020-02-10 16:33:22"	"SEQ"	"DNA"	""	""
"0000319629"	"00318448"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319630"	"00318449"	"1"	"00736"	"00085"	"2012-06-07 10:27:33"	"00085"	"2020-02-10 16:32:43"	"PCR;SEQ"	"DNA"	""	""
"0000319631"	"00318450"	"1"	"03707"	"03707"	"2013-07-12 19:22:17"	"00085"	"2014-04-30 09:23:13"	"IHC;SEQ;Western"	"DNA"	""	""
"0000319632"	"00318451"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319633"	"00318452"	"1"	"00085"	"00085"	"2015-10-27 12:03:58"	""	""	"SEQ-NG"	"DNA"	""	""
"0000319634"	"00318453"	"1"	"03704"	"00085"	"2011-02-16 10:15:29"	"00085"	"2014-06-19 08:32:16"	"PCR;SEQ"	"DNA"	""	""
"0000319635"	"00318454"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319636"	"00318455"	"1"	"03704"	"00085"	"2009-03-19 09:35:17"	"00085"	"2014-06-19 08:34:50"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319637"	"00318456"	"1"	"00085"	"00085"	"2009-03-19 09:46:54"	"00085"	"2020-02-04 12:01:24"	"RT-PCR;SEQ"	"RNA"	""	""
"0000319638"	"00318457"	"1"	"00475"	"00475"	"2010-01-19 23:08:36"	""	""	"SEQ"	"DNA"	""	""
"0000319639"	"00318458"	"1"	"00475"	"00475"	"2010-01-19 23:11:07"	""	""	"SEQ"	"DNA"	""	""
"0000319640"	"00318459"	"1"	"00085"	"00085"	"2012-06-22 14:08:01"	""	""	"?"	"?"	""	""
"0000319641"	"00318460"	"1"	"00085"	"00085"	"2014-04-04 13:39:13"	"00085"	"2014-04-04 13:39:35"	"SEQ"	"DNA"	""	""
"0000319642"	"00318461"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319643"	"00318462"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319644"	"00318463"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319645"	"00318464"	"1"	"00736"	"00736"	"2014-10-03 10:10:47"	"00085"	"2020-02-10 16:33:00"	"SEQ"	"DNA"	""	""
"0000319646"	"00318465"	"1"	"00085"	"00085"	"2020-02-26 16:19:54"	"00085"	"2020-02-26 16:20:22"	"SEQ-NG"	"DNA"	""	""
"0000319647"	"00318466"	"1"	"01233"	"01233"	"2018-04-07 22:33:43"	"00085"	"2020-02-17 12:59:40"	"SEQ-NG"	"DNA"	""	""
"0000319648"	"00318467"	"1"	"00085"	"00085"	"2020-04-01 14:12:10"	""	""	"?"	"DNA"	""	""
"0000319649"	"00318468"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319650"	"00318469"	"1"	"00085"	"00085"	"2015-10-12 10:40:38"	"00085"	"2015-10-12 10:42:14"	"SEQ-NG"	"DNA"	""	""
"0000319651"	"00318470"	"1"	"00085"	"00085"	"2009-03-18 13:23:23"	"00085"	"2011-08-24 14:32:05"	"RT-PCR;SEQ;NUC"	"RNA"	""	""
"0000319652"	"00318471"	"1"	"00085"	"00085"	"2020-01-07 16:01:58"	""	""	"SEQ-NG"	"DNA"	""	""
"0000319653"	"00318472"	"1"	"00736"	"00736"	"2013-07-31 09:23:29"	"00085"	"2020-02-10 16:34:04"	"SEQ"	"DNA"	""	""
"0000319654"	"00318473"	"1"	"03704"	"00085"	"2014-05-01 14:31:13"	"00085"	"2014-06-19 08:53:19"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319655"	"00318474"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319656"	"00318475"	"1"	"00736"	"00736"	"2013-07-31 12:55:07"	"00085"	"2020-02-10 16:35:44"	"SEQ"	"DNA"	""	""
"0000319657"	"00318476"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319658"	"00318477"	"1"	"00085"	"00085"	"2020-01-14 16:01:19"	"00085"	"2020-02-11 14:57:58"	"MLPA;RT-PCR;SEQ"	"DNA"	""	""
"0000319659"	"00318478"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319660"	"00318479"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319661"	"00318480"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319662"	"00318481"	"1"	"03704"	"00085"	"2009-04-02 15:22:01"	"00085"	"2014-06-19 08:54:45"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319663"	"00318482"	"1"	"03707"	"03707"	"2013-07-12 19:57:18"	"00085"	"2014-04-30 09:45:44"	"IHC;SEQ;Western"	"DNA"	""	""
"0000319664"	"00318483"	"1"	"00085"	"00085"	"2009-06-19 09:32:33"	"00085"	"2011-08-24 14:36:48"	"PCR;RT-PCR;SEQ;NUC"	"DNA;RNA"	""	""
"0000319665"	"00318484"	"1"	"00085"	"00085"	"2010-07-14 08:48:50"	"00085"	"2011-08-24 14:36:18"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319666"	"00318485"	"1"	"00085"	"00085"	"2020-04-01 14:41:10"	""	""	"?"	"DNA"	""	""
"0000319667"	"00318486"	"1"	"00085"	"00085"	"2020-01-14 16:04:24"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319668"	"00318487"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319669"	"00318488"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319670"	"00318489"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319671"	"00318490"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319672"	"00318491"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319673"	"00318492"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319674"	"00318493"	"1"	"00736"	"00736"	"2013-07-31 13:01:44"	"00085"	"2020-02-12 08:46:51"	"SEQ"	"DNA"	""	""
"0000319675"	"00318494"	"1"	"03707"	"03707"	"2013-07-12 20:22:59"	"00085"	"2014-04-30 10:02:14"	"IHC;SEQ;Western"	"DNA"	""	""
"0000319676"	"00318495"	"1"	"03704"	"00085"	"2014-04-07 13:57:36"	"00085"	"2014-06-18 09:02:55"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319677"	"00318496"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319678"	"00318497"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319679"	"00318498"	"1"	"00085"	"00085"	"2020-01-14 10:07:04"	"00085"	"2020-01-16 11:37:55"	"PCR;SEQ-NG"	"DNA"	""	""
"0000319680"	"00318499"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319681"	"00318500"	"1"	"00085"	"00085"	"2009-06-18 15:22:27"	"00085"	"2014-06-19 09:24:14"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319682"	"00318501"	"1"	"00736"	"00736"	"2013-07-30 13:18:39"	"00085"	"2020-02-10 16:37:08"	"SEQ"	"DNA"	""	""
"0000319683"	"00318502"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319684"	"00318503"	"1"	"03707"	"03707"	"2013-07-12 20:08:04"	"00085"	"2014-04-30 09:55:34"	"IHC;SEQ;Western"	"DNA"	""	""
"0000319685"	"00318504"	"1"	"00085"	"00085"	"2009-06-19 10:23:46"	"00085"	"2011-08-24 14:38:10"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319686"	"00318505"	"1"	"00085"	"00085"	"2009-06-19 10:29:29"	"00085"	"2011-08-24 14:38:44"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319687"	"00318506"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319688"	"00318507"	"1"	"00085"	"00085"	"2020-01-14 16:13:30"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319689"	"00318508"	"1"	"03711"	"03711"	"2015-05-15 01:40:56"	"00085"	"2016-08-02 13:04:26"	"SEQ-NG"	"DNA"	""	""
"0000319690"	"00318509"	"1"	"00085"	"00085"	"2009-06-18 15:24:53"	"00085"	"2014-06-19 11:02:01"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319691"	"00318510"	"1"	"03704"	"00085"	"2014-06-19 10:16:12"	"00085"	"2014-06-19 10:19:26"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319692"	"00318511"	"1"	"00085"	"00085"	"2010-07-02 15:35:16"	"00085"	"2011-08-24 14:39:45"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319693"	"00318512"	"1"	"00085"	"00085"	"2009-04-02 15:28:49"	"00085"	"2011-08-25 12:45:36"	"RT-PCR;SEQ"	"RNA"	""	""
"0000319694"	"00318513"	"1"	"00736"	"00736"	"2014-10-03 10:13:35"	""	""	"SEQ"	"DNA"	""	""
"0000319695"	"00318514"	"1"	"00736"	"00736"	"2014-10-03 10:14:58"	"00085"	"2015-04-13 10:17:43"	"SEQ"	"DNA"	""	""
"0000319696"	"00318515"	"1"	"00085"	"00085"	"2020-01-15 09:04:40"	"00085"	"2020-02-11 14:54:42"	"MLPA;RT-PCR;SEQ"	"DNA"	""	""
"0000319697"	"00318516"	"1"	"00085"	"00085"	"2020-02-17 13:48:29"	""	""	"SEQ-NG;PCRm"	"DNA"	""	""
"0000319698"	"00318517"	"1"	"00736"	"00736"	"2013-07-30 14:20:21"	"00085"	"2020-02-10 16:36:49"	"SEQ"	"DNA"	""	""
"0000319699"	"00318518"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319700"	"00318519"	"1"	"00736"	"00736"	"2013-07-30 09:45:29"	"00085"	"2020-02-11 09:03:00"	"SEQ"	"DNA"	""	""
"0000319701"	"00318520"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319702"	"00318521"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"SEQ"	"DNA"	""	""
"0000319703"	"00318522"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319704"	"00318523"	"1"	"00085"	"00085"	"2020-01-15 09:12:35"	"00085"	"2020-02-11 14:55:01"	"MLPA;RT-PCR;SEQ"	"DNA"	""	""
"0000319705"	"00318524"	"1"	"00085"	"00085"	"2020-01-15 16:19:14"	""	""	"SEQ-NG;PCR"	"DNA"	""	""
"0000319706"	"00318525"	"1"	"00085"	"00085"	"2020-02-17 13:54:24"	""	""	"SEQ-NG;PCRm"	"DNA"	""	""
"0000319707"	"00318526"	"1"	"03702"	"00085"	"2009-04-02 15:51:00"	"00085"	"2009-04-02 15:53:46"	"?"	"?"	""	""
"0000319708"	"00318527"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319709"	"00318528"	"1"	"03704"	"03704"	"2014-07-18 07:47:43"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319710"	"00318529"	"1"	"00736"	"00085"	"2012-06-07 10:12:35"	"00085"	"2020-02-11 09:04:17"	"PCR;SEQ"	"DNA"	""	""
"0000319711"	"00318530"	"1"	"00085"	"00085"	"2020-02-11 15:51:37"	""	""	"MLPA;RT-PCR;SEQ"	"DNA"	""	""
"0000319712"	"00318531"	"1"	"00085"	"00085"	"2009-04-02 16:17:26"	"00085"	"2014-06-19 11:17:21"	"PCR;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000319713"	"00318532"	"1"	"00085"	"00085"	"2020-01-15 09:24:41"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319714"	"00318533"	"1"	"00085"	"00085"	"2009-07-02 13:50:34"	"00085"	"2011-02-21 15:48:07"	"PCR;SEQ"	"DNA"	""	""
"0000319715"	"00318534"	"1"	"00085"	"00085"	"2010-11-26 08:27:28"	"00085"	"2011-08-25 11:58:53"	"?"	"?"	""	""
"0000319716"	"00318535"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000319717"	"00318536"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000319718"	"00318537"	"1"	"00085"	"00085"	"2020-02-26 14:49:54"	"00085"	"2020-02-26 14:53:25"	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000319719"	"00318538"	"1"	"00085"	"00085"	"2020-04-01 14:46:42"	""	""	"?"	"DNA"	""	""
"0000319720"	"00318539"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319721"	"00318540"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319722"	"00318541"	"1"	"00085"	"00085"	"2019-12-20 10:05:06"	""	""	"PCR"	"DNA"	""	""
"0000319723"	"00318542"	"1"	"00085"	"00085"	"2020-01-15 09:27:30"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319724"	"00318543"	"1"	"03704"	"00085"	"2014-06-19 11:25:03"	""	""	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319725"	"00318544"	"1"	"00736"	"00736"	"2013-07-31 09:10:46"	"00085"	"2020-02-11 09:04:38"	"SEQ"	"DNA"	""	""
"0000319726"	"00318545"	"1"	"00736"	"00736"	"2013-07-31 09:42:59"	"00085"	"2020-02-11 09:05:10"	"SEQ"	"DNA"	""	""
"0000319727"	"00318546"	"1"	"00085"	"00085"	"2020-01-09 15:21:55"	"00085"	"2020-01-28 11:39:10"	"SEQ-NG"	"DNA"	""	""
"0000319728"	"00318547"	"1"	"00085"	"00085"	"2019-12-18 15:37:04"	"00085"	"2019-12-18 15:39:00"	"SEQ-NG"	"DNA"	""	""
"0000319729"	"00318548"	"1"	"03704"	"00085"	"2009-04-02 16:19:13"	"00085"	"2014-06-19 11:28:37"	"PCR;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000319730"	"00318549"	"1"	"00085"	"00085"	"2010-07-13 09:52:11"	"00085"	"2011-08-25 10:48:44"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319731"	"00318550"	"1"	"00736"	"00085"	"2012-06-07 11:43:26"	"00085"	"2020-02-11 09:05:43"	"PCR;SEQ"	"DNA"	""	""
"0000319732"	"00318551"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319733"	"00318552"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319734"	"00318553"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319735"	"00318554"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000319736"	"00318555"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319737"	"00318556"	"1"	"00085"	"00085"	"2019-12-19 16:13:43"	"00085"	"2020-01-28 11:52:20"	"?"	"DNA"	""	""
"0000319738"	"00318557"	"1"	"00085"	"00085"	"2009-06-19 09:44:28"	"00085"	"2011-08-25 13:23:47"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319739"	"00318558"	"1"	"00085"	"00085"	"2009-06-19 09:53:55"	"00085"	"2014-06-19 11:57:13"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319740"	"00318559"	"1"	"00085"	"00085"	"2009-06-19 10:01:20"	"00085"	"2011-08-25 10:50:24"	"RT-PCR;SEQ;NUC"	"RNA"	""	""
"0000319741"	"00318560"	"1"	"00085"	"00085"	"2009-06-19 10:04:30"	"00085"	"2012-03-02 16:52:47"	"RT-PCR;SEQ"	"RNA"	""	""
"0000319742"	"00318561"	"1"	"00085"	"00085"	"2012-03-02 16:51:21"	"00085"	"2020-06-12 14:36:39"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319743"	"00318562"	"1"	"00736"	"00736"	"2013-07-30 09:03:37"	"00085"	"2020-02-12 08:47:30"	"SEQ"	"DNA"	""	""
"0000319744"	"00318563"	"1"	"03704"	"00085"	"2014-06-19 12:00:10"	""	""	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319745"	"00318564"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319746"	"00318565"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319747"	"00318566"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319748"	"00318567"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319749"	"00318568"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319750"	"00318569"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000319751"	"00318570"	"1"	"00736"	"00736"	"2014-10-03 10:28:49"	"00085"	"2020-02-11 09:09:41"	"SEQ"	"DNA"	""	""
"0000319752"	"00318571"	"1"	"00736"	"00736"	"2014-10-03 14:46:37"	"00085"	"2020-02-12 08:49:35"	"SEQ"	"DNA"	""	""
"0000319753"	"00318572"	"1"	"00085"	"00085"	"2020-01-08 11:22:01"	"00085"	"2020-01-28 11:48:51"	"?"	"DNA"	""	""
"0000319754"	"00318573"	"1"	"00085"	"00085"	"2020-02-11 15:53:33"	""	""	"MLPA;RT-PCR;SEQ"	"DNA"	""	""
"0000319755"	"00318574"	"1"	"00085"	"00085"	"2020-02-11 15:54:32"	""	""	"MLPA;RT-PCR;SEQ"	"DNA"	""	""
"0000319756"	"00318575"	"1"	"03707"	"03707"	"2013-07-12 20:07:04"	"00085"	"2014-04-30 09:54:36"	"IHC;SEQ;Western"	"DNA"	""	""
"0000319757"	"00318576"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319758"	"00318577"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319759"	"00318578"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000319760"	"00318579"	"1"	"00085"	"00085"	"2020-01-16 09:13:29"	"00085"	"2020-01-16 09:14:51"	"SEQ-NG;PCR"	"DNA"	""	""
"0000319761"	"00318580"	"1"	"00085"	"00085"	"2020-01-15 09:29:22"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319762"	"00318581"	"1"	"00085"	"00085"	"2020-01-27 10:34:01"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319763"	"00318582"	"1"	"03705"	"03705"	"2018-06-20 13:29:14"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319764"	"00318583"	"1"	"00085"	"00085"	"2009-04-02 16:23:53"	"00085"	"2011-08-25 10:51:59"	"?"	"?"	""	""
"0000319765"	"00318584"	"1"	"00736"	"00736"	"2013-07-30 13:58:35"	"00085"	"2020-02-11 09:10:10"	"SEQ"	"DNA"	""	""
"0000319766"	"00318585"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319767"	"00318586"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000319768"	"00318587"	"1"	"03704"	"00085"	"2011-02-16 10:19:00"	"00085"	"2014-06-19 12:17:30"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319769"	"00318588"	"1"	"00085"	"00085"	"2020-01-16 16:51:48"	""	""	"MLPA;RT-PCR;SEQ"	"DNA"	""	""
"0000319770"	"00318589"	"1"	"00085"	"00085"	"2020-01-27 10:36:46"	"00085"	"2020-01-28 11:35:22"	"PCR;SEQ"	"DNA"	""	""
"0000319771"	"00318590"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319772"	"00318591"	"1"	"00085"	"00085"	"2009-06-18 11:07:00"	"00085"	"2014-06-19 10:37:23"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319773"	"00318592"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319774"	"00318593"	"1"	"00736"	"00736"	"2014-10-03 10:31:14"	"00085"	"2020-02-11 09:11:13"	"SEQ"	"DNA"	""	""
"0000319775"	"00318594"	"1"	"03704"	"00085"	"2009-04-02 16:27:08"	"00085"	"2014-06-19 12:49:17"	"PCR;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000319776"	"00318595"	"1"	"00736"	"00085"	"2009-04-02 16:35:43"	"00085"	"2020-07-01 16:59:11"	"?"	"?"	""	""
"0000319777"	"00318596"	"1"	"03705"	"03705"	"2018-06-20 11:10:08"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319778"	"00318597"	"1"	"00085"	"00085"	"2020-01-15 09:33:22"	"00085"	"2020-02-11 14:55:25"	"MLPA;RT-PCR;SEQ"	"DNA"	""	""
"0000319779"	"00318598"	"1"	"00085"	"00085"	"2015-06-03 13:45:20"	"00085"	"2020-07-31 11:27:25"	"PCR;SEQ"	"DNA"	""	""
"0000319780"	"00318599"	"1"	"01233"	"01233"	"2018-04-07 23:10:11"	"00085"	"2020-02-17 13:01:18"	"SEQ-NG"	"DNA"	""	""
"0000319781"	"00318600"	"1"	"00085"	"00085"	"2012-03-06 14:01:31"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319782"	"00318601"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319783"	"00318602"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000319784"	"00318603"	"1"	"03712"	"03712"	"2015-09-23 13:32:27"	"00085"	"2016-11-02 13:23:53"	"SEQ-NG"	"DNA"	""	""
"0000319785"	"00318604"	"1"	"03704"	"00085"	"2009-04-02 16:37:22"	"00085"	"2014-06-19 12:51:30"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319786"	"00318605"	"1"	"03707"	"03707"	"2013-07-12 19:27:06"	"00085"	"2014-04-30 09:24:35"	"IHC;SEQ;Western"	"DNA"	""	""
"0000319787"	"00318606"	"1"	"00085"	"00085"	"2020-02-17 17:02:46"	"00085"	"2020-07-01 17:06:29"	"?"	"DNA"	""	""
"0000319788"	"00318607"	"1"	"00085"	"00085"	"2011-11-01 15:59:16"	"00085"	"2014-04-03 15:48:53"	"RT-PCR;SEQ"	"RNA"	""	""
"0000319789"	"00318608"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319790"	"00318609"	"1"	"00085"	"00085"	"2010-07-02 15:45:40"	"00085"	"2011-08-25 11:40:57"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319791"	"00318610"	"1"	"00085"	"00085"	"2016-02-16 15:24:54"	""	""	"SEQ"	"DNA"	""	""
"0000319792"	"00318611"	"1"	"00736"	"00736"	"2013-07-31 12:48:26"	"00085"	"2020-02-11 09:13:41"	"SEQ"	"DNA"	""	""
"0000319793"	"00318612"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319794"	"00318613"	"1"	"00085"	"00085"	"2019-05-14 15:37:13"	""	""	"SEQ"	"DNA"	""	""
"0000319795"	"00318614"	"1"	"00085"	"00085"	"2020-01-15 09:40:31"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319796"	"00318615"	"1"	"00085"	"00085"	"2020-01-16 16:41:33"	"00085"	"2020-02-11 16:06:53"	"MLPA;RT-PCR;SEQ"	"DNA"	""	""
"0000319797"	"00318616"	"1"	"00085"	"00085"	"2012-03-06 15:22:18"	"00085"	"2014-02-27 16:25:23"	"PCR;SEQ"	"DNA"	""	""
"0000319798"	"00318617"	"1"	"00085"	"00085"	"2020-01-15 09:42:31"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319799"	"00318618"	"1"	"03704"	"00085"	"2009-04-06 11:41:04"	"00085"	"2014-06-19 14:36:12"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319800"	"00318619"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319801"	"00318620"	"1"	"00085"	"00085"	"2009-11-30 15:00:38"	"00085"	"2010-03-09 13:42:02"	"?"	"?"	""	""
"0000319802"	"00318621"	"1"	"00736"	"00736"	"2013-07-30 10:18:01"	"00085"	"2020-02-05 16:29:10"	"SEQ"	"DNA"	""	""
"0000319803"	"00318622"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000319804"	"00318623"	"1"	"03704"	"00085"	"2009-04-06 11:51:09"	"00085"	"2014-06-18 09:01:24"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319805"	"00318624"	"1"	"03704"	"00085"	"2009-04-06 11:52:09"	"00085"	"2014-06-18 09:01:55"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319806"	"00318625"	"1"	"03707"	"03707"	"2013-07-12 20:05:53"	"00085"	"2014-04-30 09:53:20"	"IHC;SEQ;Western"	"DNA"	""	""
"0000319807"	"00318626"	"1"	"00736"	"00736"	"2013-07-30 09:29:36"	"00085"	"2020-02-12 08:53:26"	"SEQ"	"DNA"	""	""
"0000319808"	"00318627"	"1"	"00736"	"00736"	"2013-07-30 10:51:33"	"00085"	"2020-02-05 16:31:06"	"SEQ"	"DNA"	""	""
"0000319809"	"00318628"	"1"	"03704"	"00085"	"2014-04-07 14:11:44"	"00085"	"2014-06-19 14:44:13"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319810"	"00318629"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319811"	"00318630"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319812"	"00318631"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319813"	"00318632"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319814"	"00318633"	"1"	"00085"	"00085"	"2015-07-28 11:57:48"	"00085"	"2016-08-26 11:36:37"	"?"	"?"	""	""
"0000319815"	"00318634"	"1"	"03704"	"00085"	"2009-04-06 12:35:55"	"00085"	"2014-06-19 14:51:55"	"PCR;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000319816"	"00318635"	"1"	"00736"	"00736"	"2013-07-31 10:09:12"	"00085"	"2020-02-12 08:54:15"	"SEQ"	"DNA"	""	""
"0000319817"	"00318636"	"1"	"03704"	"00085"	"2009-04-06 12:44:56"	"00085"	"2014-06-19 14:54:01"	"PCR;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000319818"	"00318637"	"1"	"03704"	"00085"	"2009-04-06 12:46:28"	"00085"	"2014-06-19 14:55:25"	"PCR;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000319819"	"00318638"	"1"	"00085"	"00085"	"2012-03-06 14:06:31"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319820"	"00318639"	"1"	"00085"	"00085"	"2009-07-02 13:54:22"	"00085"	"2011-02-21 15:50:07"	"PCR;SEQ"	"DNA"	""	""
"0000319821"	"00318640"	"1"	"03704"	"00085"	"2009-06-18 15:27:18"	"00085"	"2014-06-20 12:48:03"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319822"	"00318641"	"1"	"03704"	"00085"	"2009-06-18 15:28:44"	"00085"	"2014-06-20 12:46:55"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319823"	"00318642"	"1"	"03704"	"00085"	"2009-06-18 15:29:39"	"00085"	"2014-06-20 12:45:50"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319824"	"00318643"	"1"	"03704"	"00085"	"2009-06-18 15:30:40"	"00085"	"2014-06-20 11:57:50"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319825"	"00318644"	"1"	"00085"	"00085"	"2009-06-19 10:48:36"	"00085"	"2011-08-25 12:41:45"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319826"	"00318645"	"1"	"00085"	"00085"	"2009-06-19 10:49:51"	"00085"	"2011-08-25 12:41:45"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319827"	"00318646"	"1"	"03704"	"00085"	"2009-06-19 10:55:34"	"00085"	"2014-06-20 11:56:38"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319828"	"00318647"	"1"	"03704"	"00085"	"2009-06-19 10:57:09"	"00085"	"2014-06-20 11:55:04"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319829"	"00318648"	"1"	"03704"	"00085"	"2009-06-19 10:58:09"	"00085"	"2014-06-20 11:53:50"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319830"	"00318649"	"1"	"00085"	"00085"	"2010-07-14 08:51:21"	"00085"	"2011-08-25 11:40:57"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319831"	"00318650"	"1"	"00085"	"00085"	"2010-07-14 08:52:48"	"00085"	"2011-08-25 11:40:57"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319832"	"00318651"	"1"	"00085"	"00085"	"2010-07-14 08:54:41"	"00085"	"2011-08-25 11:40:57"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319833"	"00318652"	"1"	"00085"	"00085"	"2011-05-03 16:04:06"	"00085"	"2020-07-21 16:46:50"	"PCR;RT-PCR;SEQ"	"DNA;RNA;protein"	""	""
"0000319834"	"00318653"	"1"	"00085"	"00085"	"2011-08-24 16:07:48"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000319835"	"00318654"	"1"	"00085"	"00085"	"2011-08-24 16:08:50"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000319836"	"00318655"	"1"	"00736"	"00085"	"2012-06-07 10:16:09"	"00085"	"2020-02-05 16:34:58"	"PCR;SEQ"	"DNA"	""	""
"0000319837"	"00318656"	"1"	"00736"	"00085"	"2012-06-07 10:31:47"	"00085"	"2020-02-11 09:17:01"	"PCR;SEQ"	"DNA"	""	""
"0000319838"	"00318657"	"1"	"00736"	"00736"	"2013-07-30 13:51:58"	"00085"	"2020-02-11 09:17:46"	"SEQ"	"DNA"	""	""
"0000319839"	"00318658"	"1"	"03704"	"00085"	"2014-04-08 09:39:55"	"00085"	"2014-06-20 11:07:44"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319840"	"00318659"	"1"	"03704"	"00085"	"2014-04-08 10:27:40"	"00085"	"2014-06-20 11:05:41"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319841"	"00318660"	"1"	"00085"	"00085"	"2014-04-28 13:31:33"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319842"	"00318661"	"1"	"03704"	"00085"	"2014-06-20 11:45:58"	""	""	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319843"	"00318662"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"SEQ"	"DNA"	""	""
"0000319844"	"00318663"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319845"	"00318664"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319846"	"00318665"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319847"	"00318666"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"SEQ"	"DNA"	""	""
"0000319848"	"00318667"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319849"	"00318668"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"SEQ"	"DNA"	""	""
"0000319850"	"00318669"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"SEQ"	"DNA"	""	""
"0000319851"	"00318670"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319852"	"00318671"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319853"	"00318672"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"SEQ"	"DNA"	""	""
"0000319854"	"00318673"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319855"	"00318674"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319856"	"00318675"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319857"	"00318676"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319858"	"00318677"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"SEQ"	"DNA"	""	""
"0000319859"	"00318678"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319860"	"00318679"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319861"	"00318680"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"SEQ"	"DNA"	""	""
"0000319862"	"00318681"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319863"	"00318682"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319864"	"00318683"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319865"	"00318684"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319866"	"00318685"	"1"	"00736"	"00736"	"2014-10-03 15:10:32"	"00085"	"2020-02-11 09:18:37"	"SEQ"	"DNA"	""	""
"0000319867"	"00318686"	"1"	"00736"	"00736"	"2014-10-03 15:12:20"	"00085"	"2020-02-11 09:19:07"	"SEQ"	"DNA"	""	""
"0000319868"	"00318687"	"1"	"00736"	"00736"	"2014-10-08 12:11:59"	"00085"	"2020-02-11 09:15:34"	"SEQ"	"DNA"	""	""
"0000319869"	"00318688"	"1"	"00736"	"00736"	"2014-10-08 12:12:45"	"00085"	"2020-02-11 09:19:32"	"SEQ"	"DNA"	""	""
"0000319870"	"00318689"	"1"	"03711"	"03711"	"2015-05-08 06:29:32"	"00085"	"2016-08-02 11:51:54"	"SEQ-NG"	"DNA"	""	""
"0000319871"	"00318690"	"1"	"03711"	"03711"	"2015-05-15 01:11:03"	"00085"	"2016-08-02 11:47:56"	"SEQ-NG"	"DNA"	""	""
"0000319872"	"00318691"	"1"	"00085"	"00085"	"2015-06-11 16:25:21"	""	""	"MCA;PCR;SEQ"	"DNA"	""	""
"0000319873"	"00318692"	"1"	"00736"	"00736"	"2013-07-31 14:38:43"	"00085"	"2020-02-11 09:23:32"	"SEQ"	"DNA"	""	""
"0000319874"	"00318693"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319875"	"00318694"	"1"	"03705"	"03705"	"2018-06-20 13:50:59"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319876"	"00318695"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000319877"	"00318696"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319878"	"00318697"	"1"	"00085"	"00085"	"2008-09-11 09:56:17"	"00085"	"2011-08-24 15:36:20"	"RT-PCR;SEQ"	"RNA"	""	""
"0000319879"	"00318698"	"1"	"00736"	"00736"	"2013-07-31 12:57:17"	"00085"	"2020-02-11 09:32:22"	"SEQ"	"DNA"	""	""
"0000319880"	"00318699"	"1"	"00085"	"00085"	"2020-02-28 09:29:32"	"00085"	"2020-02-28 09:30:06"	"SEQ-NG"	"DNA"	""	""
"0000319881"	"00318700"	"1"	"00736"	"00736"	"2014-10-03 10:59:48"	"00085"	"2020-02-11 09:40:47"	"SEQ"	"DNA"	""	""
"0000319882"	"00318701"	"1"	"00085"	"00085"	"2009-04-06 12:51:51"	"00085"	"2011-08-25 12:44:05"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319883"	"00318702"	"1"	"00736"	"00736"	"2013-07-31 14:32:36"	"00085"	"2020-02-12 08:54:53"	"SEQ"	"DNA"	""	""
"0000319884"	"00318703"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000319885"	"00318704"	"1"	"00085"	"00085"	"2020-01-15 09:44:30"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319886"	"00318705"	"1"	"00085"	"00085"	"2010-07-02 15:49:25"	"00085"	"2011-08-25 11:40:57"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319887"	"00318706"	"1"	"00085"	"00085"	"2009-04-06 15:04:41"	"00085"	"2011-08-25 12:46:20"	"RT-PCR;SEQ"	"RNA"	""	""
"0000319888"	"00318707"	"1"	"03704"	"00085"	"2009-04-06 15:06:07"	"00085"	"2014-06-18 08:59:49"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319889"	"00318708"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000319890"	"00318709"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319891"	"00318710"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000319892"	"00318711"	"1"	"00736"	"00736"	"2014-10-03 10:54:48"	"00085"	"2020-02-11 09:41:25"	"SEQ"	"DNA"	""	""
"0000319893"	"00318712"	"1"	"00085"	"00085"	"2020-02-17 14:00:03"	""	""	"SEQ-NG;PCRm"	"DNA"	""	""
"0000319894"	"00318713"	"1"	"03704"	"00085"	"2014-04-07 14:55:52"	"00085"	"2014-06-20 15:00:07"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319895"	"00318714"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319896"	"00318715"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319897"	"00318716"	"1"	"00475"	"00475"	"2010-01-19 22:57:14"	""	""	"SEQ"	"DNA"	""	""
"0000319898"	"00318717"	"1"	"00085"	"00085"	"2012-03-06 14:08:54"	"00085"	"2012-03-06 14:28:15"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319899"	"00318718"	"1"	"00736"	"00736"	"2013-07-30 09:15:05"	"00085"	"2020-02-11 09:41:44"	"SEQ"	"DNA"	""	""
"0000319900"	"00318719"	"1"	"00085"	"00085"	"2019-12-20 13:49:49"	"00085"	"2019-12-20 13:50:13"	"?"	"DNA"	""	""
"0000319901"	"00318720"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000319902"	"00318721"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319903"	"00318722"	"1"	"00736"	"00736"	"2014-10-03 10:57:19"	"00085"	"2020-02-11 09:42:04"	"SEQ"	"DNA"	""	""
"0000319904"	"00318723"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319905"	"00318724"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319906"	"00318725"	"1"	"00085"	"00085"	"2009-06-19 11:26:58"	"00085"	"2013-10-25 10:32:45"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319907"	"00318726"	"1"	"00085"	"00085"	"2020-01-16 09:19:20"	""	""	"SEQ-NG;PCR"	"DNA"	""	""
"0000319908"	"00318727"	"1"	"03704"	"00085"	"2014-04-08 11:25:57"	"00085"	"2014-06-20 15:01:07"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319909"	"00318728"	"1"	"00085"	"00085"	"2012-06-06 16:06:58"	"00085"	"2012-06-06 16:41:11"	"?"	"?"	""	""
"0000319910"	"00318729"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319911"	"00318730"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319912"	"00318731"	"1"	"03704"	"00085"	"2009-04-06 15:13:54"	"00085"	"2014-06-20 15:02:42"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319913"	"00318732"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319914"	"00318733"	"1"	"00736"	"00736"	"2014-10-03 11:10:17"	"00085"	"2020-02-11 09:42:27"	"SEQ"	"DNA"	""	""
"0000319915"	"00318734"	"1"	"03707"	"03707"	"2013-07-12 20:21:11"	"00085"	"2014-04-30 10:01:06"	"IHC;SEQ;Western"	"DNA"	""	""
"0000319916"	"00318735"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; SEQ"	"DNA"	""	""
"0000319917"	"00318736"	"1"	"03707"	"03707"	"2013-07-12 20:25:04"	"00085"	"2014-04-30 10:03:30"	"IHC;SEQ;Western"	"DNA"	""	""
"0000319918"	"00318737"	"1"	"03711"	"03711"	"2015-05-15 01:07:53"	"00085"	"2016-08-02 12:42:54"	"SEQ-NG"	"DNA"	""	""
"0000319919"	"00318738"	"1"	"00085"	"00085"	"2020-01-08 10:09:25"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319920"	"00318739"	"1"	"03704"	"00085"	"2011-02-16 10:24:26"	"00085"	"2014-06-20 16:27:37"	"PCR;SEQ"	"DNA"	""	""
"0000319921"	"00318740"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	"00085"	"2017-03-16 14:24:48"	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319922"	"00318741"	"1"	"00736"	"00736"	"2014-10-03 11:06:22"	"00085"	"2020-02-11 09:44:28"	"SEQ"	"DNA"	""	""
"0000319923"	"00318742"	"1"	"00085"	"00085"	"2009-11-30 15:03:59"	"00085"	"2010-03-09 13:55:36"	"?"	"?"	""	""
"0000319924"	"00318743"	"1"	"00085"	"00085"	"2020-03-18 14:19:38"	""	""	"SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000319925"	"00318744"	"1"	"00085"	"00085"	"2020-04-01 14:02:55"	"00085"	"2020-04-01 14:05:05"	"?"	"DNA"	""	""
"0000319926"	"00318745"	"1"	"03704"	"00085"	"2011-02-16 10:32:11"	"00085"	"2014-06-25 10:49:16"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319927"	"00318746"	"1"	"00085"	"00085"	"2009-10-08 09:22:21"	"00085"	"2011-08-25 12:47:28"	"RT-PCR;SEQ"	"RNA"	""	""
"0000319928"	"00318747"	"1"	"00085"	"00085"	"2010-07-14 08:38:50"	"00085"	"2011-08-25 11:40:57"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319929"	"00318748"	"1"	"00085"	"00085"	"2012-03-06 14:10:54"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319930"	"00318749"	"1"	"00085"	"00085"	"2013-01-23 11:28:48"	"00085"	"2013-01-23 11:29:20"	"SEQ"	"?"	""	""
"0000319931"	"00318750"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319932"	"00318751"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319933"	"00318752"	"1"	"01233"	"01233"	"2018-04-07 23:17:22"	"00085"	"2020-02-17 13:01:38"	"SEQ-NG;RT-PCR"	"DNA;RNA"	""	""
"0000319934"	"00318753"	"1"	"00085"	"00085"	"2012-06-06 16:38:19"	""	""	"SEQ"	"DNA"	""	""
"0000319935"	"00318754"	"1"	"00085"	"00085"	"2020-02-26 14:52:41"	""	""	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000319936"	"00318755"	"1"	"00085"	"00085"	"2020-01-15 10:17:54"	"00085"	"2020-01-17 15:14:57"	"PCR;SEQ"	"DNA"	""	""
"0000319937"	"00318756"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319938"	"00318757"	"1"	"03704"	"00085"	"2009-06-18 11:12:49"	"00085"	"2014-06-25 10:52:53"	"RT-PCR;SEQ;HD"	"RNA"	""	""
"0000319939"	"00318758"	"1"	"00085"	"00085"	"2012-03-06 14:13:28"	"00085"	"2020-01-09 13:29:16"	"PCR;SEQ"	"DNA"	""	""
"0000319940"	"00318759"	"1"	"00736"	"00736"	"2013-07-31 09:34:05"	"00085"	"2020-02-11 09:44:53"	"SEQ"	"DNA"	""	""
"0000319941"	"00318760"	"1"	"00085"	"00085"	"2009-04-06 15:17:44"	"00085"	"2011-08-25 12:48:38"	"RT-PCR;SEQ"	"RNA"	""	""
"0000319942"	"00318761"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319943"	"00318762"	"1"	"00085"	"00085"	"2020-01-15 10:22:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319944"	"00318763"	"1"	"00085"	"00085"	"2009-11-30 15:05:11"	"00085"	"2020-02-21 10:21:28"	"?"	"?"	""	""
"0000319945"	"00318764"	"1"	"00736"	"00736"	"2014-10-03 11:21:53"	"00085"	"2020-02-11 09:46:21"	"SEQ"	"DNA"	""	""
"0000319946"	"00318765"	"1"	"00085"	"00085"	"2020-01-07 10:51:19"	""	""	"?"	"DNA"	""	""
"0000319947"	"00318766"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319948"	"00318767"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000319949"	"00318768"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000319950"	"00318769"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319951"	"00318770"	"1"	"00085"	"00085"	"2013-01-14 16:05:38"	""	""	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319952"	"00318771"	"1"	"00736"	"00736"	"2013-07-30 10:09:04"	"00085"	"2020-02-11 09:46:39"	"SEQ"	"DNA"	""	""
"0000319953"	"00318772"	"1"	"00085"	"00085"	"2010-07-09 13:29:27"	"00085"	"2011-08-25 11:40:57"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319954"	"00318773"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319955"	"00318774"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000319956"	"00318775"	"1"	"00085"	"00085"	"2020-01-15 10:28:06"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319957"	"00318776"	"1"	"00085"	"00085"	"2009-06-19 11:32:13"	"00085"	"2011-08-25 12:49:10"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319958"	"00318777"	"1"	"03705"	"03705"	"2018-06-20 11:27:47"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319959"	"00318778"	"1"	"03704"	"00085"	"2009-06-18 15:33:14"	"00085"	"2014-06-25 11:23:54"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319960"	"00318779"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000319961"	"00318780"	"1"	"03704"	"00085"	"2014-06-25 11:21:51"	""	""	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319962"	"00318781"	"1"	"00085"	"00085"	"2012-02-20 09:16:48"	"00085"	"2012-02-20 09:22:24"	"?"	"?"	""	""
"0000319963"	"00318782"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319964"	"00318783"	"1"	"03704"	"00085"	"2009-04-06 15:21:13"	"00085"	"2014-06-25 11:25:17"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319965"	"00318784"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319966"	"00318785"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319967"	"00318786"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	"00085"	"2014-07-18 12:42:00"	"PCR;SEQ"	"DNA"	""	""
"0000319968"	"00318787"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319969"	"00318788"	"1"	"00736"	"00736"	"2014-10-03 11:23:21"	"00085"	"2020-02-11 09:47:38"	"SEQ"	"DNA"	""	""
"0000319970"	"00318789"	"1"	"00085"	"00085"	"2011-07-26 15:01:12"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000319971"	"00318790"	"1"	"00085"	"00085"	"2009-06-19 11:37:20"	"00085"	"2011-08-25 11:50:43"	"?"	"?"	""	""
"0000319972"	"00318791"	"1"	"03704"	"00085"	"2014-06-25 11:32:27"	"00085"	"2014-06-25 11:32:51"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319973"	"00318792"	"1"	"00736"	"00736"	"2014-10-06 15:48:12"	"00085"	"2020-02-11 09:47:52"	"SEQ"	"DNA"	""	""
"0000319974"	"00318793"	"1"	"03704"	"00085"	"2009-06-18 15:40:01"	"00085"	"2014-06-25 11:56:27"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319975"	"00318794"	"1"	"00085"	"00085"	"2020-02-24 10:06:04"	""	""	"?"	"DNA"	""	""
"0000319976"	"00318795"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319977"	"00318796"	"1"	"03711"	"03711"	"2015-05-15 01:17:41"	"00085"	"2016-08-02 10:42:46"	"SEQ-NG"	"DNA"	""	""
"0000319978"	"00318797"	"1"	"00085"	"00085"	"2009-05-12 09:01:33"	"00085"	"2011-08-25 12:49:54"	"?"	"?"	""	""
"0000319979"	"00318798"	"1"	"00085"	"00085"	"2010-07-14 08:41:27"	"00085"	"2011-08-25 11:40:57"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319980"	"00318799"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319981"	"00318800"	"1"	"00085"	"00085"	"2009-07-02 15:05:55"	"00085"	"2011-02-21 15:51:40"	"PCR;SEQ"	"DNA"	""	""
"0000319982"	"00318801"	"1"	"00085"	"00085"	"2020-01-06 10:36:43"	""	""	"SEQ"	"DNA"	""	""
"0000319983"	"00318802"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319984"	"00318803"	"1"	"00736"	"00736"	"2013-07-31 09:53:49"	"00736"	"2015-04-03 11:00:42"	"SEQ"	"DNA"	""	""
"0000319985"	"00318804"	"1"	"03704"	"00085"	"2009-04-06 15:23:20"	"00085"	"2014-06-25 12:59:52"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319986"	"00318805"	"1"	"00085"	"00085"	"2020-02-17 15:22:21"	""	""	"?"	"DNA"	""	""
"0000319987"	"00318806"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319988"	"00318807"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000319989"	"00318808"	"1"	"00736"	"00736"	"2014-10-03 11:25:35"	"00085"	"2020-02-12 08:55:57"	"RT-PCR;SEQ"	"DNA"	""	""
"0000319990"	"00318809"	"1"	"00085"	"00085"	"2020-01-16 09:22:20"	"00085"	"2020-01-16 09:23:05"	"SEQ-NG;PCR"	"DNA"	""	""
"0000319991"	"00318810"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000319992"	"00318811"	"1"	"03704"	"00085"	"2009-04-06 15:25:40"	"00085"	"2014-07-07 09:56:11"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319993"	"00318812"	"1"	"03704"	"00085"	"2014-04-07 16:10:21"	"00085"	"2014-06-25 13:32:04"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000319994"	"00318813"	"1"	"00085"	"00085"	"2009-06-01 08:23:45"	"00085"	"2011-08-25 12:50:27"	"?"	"?"	""	""
"0000319995"	"00318814"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000319996"	"00318815"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319997"	"00318816"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000319998"	"00318817"	"1"	"00085"	"00085"	"2009-04-06 15:30:39"	"00085"	"2011-08-25 12:51:47"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000319999"	"00318818"	"1"	"03704"	"00085"	"2009-04-06 15:31:36"	"00085"	"2014-06-25 13:33:57"	"PCR;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000320000"	"00318819"	"1"	"03704"	"00085"	"2009-04-06 15:32:48"	"00085"	"2014-06-25 13:35:21"	"PCR;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000320001"	"00318820"	"1"	"00085"	"00085"	"2009-06-18 14:16:02"	"00085"	"2011-08-25 12:54:12"	"RT-PCR;SEQ"	"RNA"	""	""
"0000320002"	"00318821"	"1"	"03711"	"03711"	"2015-05-08 06:41:35"	"00085"	"2015-05-08 09:15:58"	"SEQ-NG"	"DNA"	""	""
"0000320003"	"00318822"	"1"	"00085"	"00085"	"2015-07-27 13:59:00"	""	""	"SEQ-NG"	"DNA"	""	""
"0000320004"	"00318823"	"1"	"03704"	"00085"	"2009-06-18 15:42:02"	"00085"	"2014-07-07 10:01:42"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320005"	"00318824"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320006"	"00318825"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320007"	"00318826"	"1"	"00085"	"00085"	"2020-01-15 10:28:58"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320008"	"00318827"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320009"	"00318828"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320010"	"00318829"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320011"	"00318830"	"1"	"03704"	"00085"	"2011-02-16 10:38:29"	"00085"	"2014-06-25 13:57:08"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320012"	"00318831"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320013"	"00318832"	"1"	"00085"	"00085"	"2020-01-15 10:29:57"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320014"	"00318833"	"1"	"00085"	"00085"	"2009-07-02 15:10:56"	"00085"	"2011-08-25 11:45:56"	"PCR;SEQ"	"DNA"	""	""
"0000320015"	"00318834"	"1"	"00085"	"00085"	"2009-04-06 15:38:44"	"00085"	"2011-08-25 12:55:13"	"?"	"?"	""	""
"0000320016"	"00318835"	"1"	"00736"	"00736"	"2013-07-30 09:26:04"	"00085"	"2020-02-06 16:29:29"	"SEQ"	"DNA"	""	""
"0000320017"	"00318836"	"1"	"00736"	"00736"	"2014-10-03 11:34:52"	"00085"	"2020-02-12 08:56:37"	"SEQ"	"DNA"	""	""
"0000320018"	"00318837"	"1"	"03711"	"03711"	"2015-05-08 06:38:34"	"00085"	"2019-09-12 16:03:36"	"SEQ-NG"	"DNA"	""	""
"0000320019"	"00318838"	"1"	"00085"	"00085"	"2019-09-12 15:38:34"	"00085"	"2019-09-12 15:40:01"	"SEQ"	"DNA"	""	""
"0000320020"	"00318839"	"1"	"00085"	"00085"	"2019-09-12 15:53:55"	"00085"	"2019-09-12 15:54:42"	"SEQ"	"DNA"	""	""
"0000320021"	"00318840"	"1"	"01233"	"01233"	"2018-04-07 22:44:04"	"00085"	"2020-02-17 12:59:53"	"SEQ-NG"	"DNA"	""	""
"0000320022"	"00318841"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320023"	"00318842"	"1"	"00085"	"00085"	"2009-11-30 15:09:13"	""	""	"?"	"?"	""	""
"0000320024"	"00318843"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	"00085"	"2014-07-22 11:34:06"	"PCR;SEQ"	"DNA"	""	""
"0000320025"	"00318844"	"1"	"03705"	"03705"	"2018-06-20 12:43:06"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320026"	"00318845"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320027"	"00318846"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320028"	"00318847"	"1"	"00085"	"00085"	"2012-03-06 14:18:28"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320029"	"00318848"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320030"	"00318849"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320031"	"00318850"	"1"	"00085"	"00085"	"2009-06-18 14:26:45"	"00085"	"2011-08-25 12:55:59"	"RT-PCR;SEQ"	"RNA"	""	""
"0000320032"	"00318851"	"1"	"00085"	"00085"	"2011-08-11 11:24:34"	"00085"	"2012-06-07 09:38:27"	"PCR;SEQ"	"DNA"	""	""
"0000320033"	"00318852"	"1"	"00085"	"00085"	"2020-01-22 09:39:58"	""	""	"PCR"	"DNA"	""	""
"0000320034"	"00318853"	"1"	"03704"	"00085"	"2009-04-06 15:41:22"	"00085"	"2014-06-25 16:08:07"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320035"	"00318854"	"1"	"00736"	"00736"	"2013-07-30 09:17:51"	"00085"	"2020-02-11 09:49:58"	"SEQ"	"DNA"	""	""
"0000320036"	"00318855"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320037"	"00318856"	"1"	"00736"	"00736"	"2014-10-03 11:31:06"	"00085"	"2020-01-17 10:19:48"	"SEQ"	"DNA"	""	""
"0000320038"	"00318857"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320039"	"00318858"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320040"	"00318859"	"1"	"00085"	"00085"	"2020-02-18 10:43:38"	""	""	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000320041"	"00318860"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320042"	"00318861"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320043"	"00318862"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320044"	"00318863"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320045"	"00318864"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320046"	"00318865"	"1"	"00085"	"00085"	"2020-01-06 15:21:52"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320047"	"00318866"	"1"	"00085"	"00085"	"2009-04-06 15:51:06"	"00085"	"2011-08-25 12:56:37"	"?"	"?"	""	""
"0000320048"	"00318867"	"1"	"03707"	"03707"	"2013-07-12 20:04:41"	"00085"	"2014-04-30 09:51:34"	"IHC;SEQ;Western"	"DNA"	""	""
"0000320049"	"00318868"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320050"	"00318869"	"1"	"03704"	"00085"	"2009-04-06 15:59:12"	"00085"	"2014-06-25 16:07:06"	"PCR;RT-PCR;SEQ"	"DNA;RNA;?"	""	""
"0000320051"	"00318870"	"1"	"00736"	"00736"	"2014-10-03 11:37:53"	"00085"	"2020-02-11 09:50:19"	"SEQ"	"DNA"	""	""
"0000320052"	"00318871"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320053"	"00318872"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320054"	"00318873"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320055"	"00318874"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320056"	"00318875"	"1"	"00085"	"00085"	"2011-08-24 15:48:56"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000320057"	"00318876"	"1"	"00736"	"00085"	"2012-06-07 10:33:05"	"00085"	"2020-02-12 08:57:22"	"PCR;SEQ"	"DNA"	""	""
"0000320058"	"00318877"	"1"	"00085"	"00085"	"2014-06-17 11:27:47"	""	""	"RT-PCR;SEQ"	"RNA"	""	""
"0000320059"	"00318878"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320060"	"00318879"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320061"	"00318880"	"1"	"00085"	"00085"	"2009-04-06 16:33:32"	"00085"	"2011-08-25 12:57:47"	"RT-PCR;SEQ;CMC"	"RNA"	""	""
"0000320062"	"00318881"	"1"	"03704"	"00085"	"2009-04-06 16:35:31"	"00085"	"2014-06-25 16:09:17"	"PCR;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000320063"	"00318882"	"1"	"00085"	"00085"	"2014-11-27 14:03:38"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320064"	"00318883"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320065"	"00318884"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320066"	"00318885"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320067"	"00318886"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320068"	"00318887"	"1"	"00085"	"00085"	"2011-08-24 16:04:47"	"00085"	"2014-06-30 08:38:41"	"PCR;SEQ;MCA"	"DNA"	""	""
"0000320069"	"00318888"	"1"	"00085"	"00085"	"2020-01-08 14:44:29"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320070"	"00318889"	"1"	"00085"	"00085"	"2012-03-06 14:21:04"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320071"	"00318890"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320072"	"00318891"	"1"	"00085"	"00085"	"2018-07-31 08:32:30"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000320073"	"00318892"	"1"	"00085"	"00085"	"2010-07-09 12:50:10"	"00085"	"2011-08-25 11:40:57"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320074"	"00318893"	"1"	"00085"	"00085"	"2009-04-06 16:41:33"	"00085"	"2011-08-25 12:58:16"	"PCR;SEQ"	"DNA"	""	""
"0000320075"	"00318894"	"1"	"03706"	"03706"	"2011-08-01 15:07:34"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000320076"	"00318895"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320077"	"00318896"	"1"	"03704"	"00085"	"2009-04-07 09:07:34"	"00085"	"2014-06-25 16:15:09"	"PCR;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000320078"	"00318897"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320079"	"00318898"	"1"	"00085"	"00085"	"2016-08-26 11:41:42"	"00085"	"2016-08-26 11:44:05"	"PCR;SEQ"	"DNA"	""	""
"0000320080"	"00318899"	"1"	"00085"	"00085"	"2020-01-07 11:15:09"	""	""	"?"	"DNA"	""	""
"0000320081"	"00318900"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320082"	"00318901"	"1"	"03704"	"00085"	"2009-04-07 09:14:28"	"00085"	"2014-06-25 16:16:44"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320083"	"00318902"	"1"	"00085"	"00085"	"2010-07-14 08:43:23"	"00085"	"2011-08-25 11:40:57"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320084"	"00318903"	"1"	"03707"	"03707"	"2013-07-12 19:53:39"	"00085"	"2014-04-30 09:34:15"	"IHC;SEQ;Western"	"DNA"	""	""
"0000320085"	"00318904"	"1"	"00736"	"00736"	"2013-07-31 13:19:40"	"00085"	"2020-02-12 08:58:44"	"SEQ"	"DNA"	""	""
"0000320086"	"00318905"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320087"	"00318906"	"1"	"00085"	"00085"	"2015-06-11 15:35:19"	""	""	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320088"	"00318907"	"1"	"00736"	"00736"	"2013-07-30 13:14:46"	"00085"	"2020-02-12 16:21:47"	"SEQ"	"DNA"	""	""
"0000320089"	"00318908"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320090"	"00318909"	"1"	"00085"	"00085"	"2019-08-13 12:54:18"	""	""	"?"	"?"	""	""
"0000320091"	"00318910"	"1"	"00085"	"00085"	"2020-01-15 16:43:40"	""	""	"SEQ-NG;PCR"	"DNA"	""	""
"0000320092"	"00318911"	"1"	"00736"	"00736"	"2014-10-03 11:41:39"	"00085"	"2015-04-13 10:33:29"	"PCR;SEQ"	"DNA"	""	""
"0000320093"	"00318912"	"1"	"03704"	"00085"	"2009-04-07 09:18:03"	"00085"	"2014-06-27 16:23:06"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320094"	"00318913"	"1"	"00736"	"00736"	"2013-07-30 12:47:24"	"00085"	"2020-02-05 17:08:51"	"SEQ"	"DNA"	""	""
"0000320095"	"00318914"	"1"	"00085"	"00085"	"2009-06-18 14:36:44"	"00085"	"2011-02-21 15:52:34"	"RT-PCR;SEQ"	"RNA"	""	""
"0000320096"	"00318915"	"1"	"00085"	"00085"	"2020-01-15 10:32:19"	"00085"	"2020-02-11 14:55:56"	"MLPA;RT-PCR;SEQ"	"DNA"	""	""
"0000320097"	"00318916"	"1"	"00085"	"00085"	"2009-04-07 09:42:08"	"00085"	"2011-08-25 13:00:04"	"RT-PCR;SEQ"	"RNA"	""	""
"0000320098"	"00318917"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320099"	"00318918"	"1"	"03706"	"03706"	"2012-04-16 07:24:17"	"00085"	"2012-04-16 08:30:06"	"DHPLC;SEQ"	"DNA"	""	""
"0000320100"	"00318919"	"1"	"00736"	"00736"	"2014-10-03 11:45:46"	"00085"	"2020-02-11 09:52:39"	"SEQ"	"DNA"	""	""
"0000320101"	"00318920"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320102"	"00318921"	"1"	"03704"	"00085"	"2009-06-18 12:38:20"	"00085"	"2014-06-27 16:47:45"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320103"	"00318922"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320104"	"00318923"	"1"	"03707"	"03707"	"2013-07-12 20:00:01"	"00085"	"2014-04-30 09:48:22"	"IHC;SEQ;Western"	"DNA"	""	""
"0000320105"	"00318924"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320106"	"00318925"	"1"	"00085"	"00085"	"2009-04-07 15:17:16"	"00085"	"2011-08-25 12:44:05"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000320107"	"00318926"	"1"	"00736"	"00085"	"2012-06-07 10:06:41"	"00085"	"2020-02-11 09:53:40"	"PCR;SEQ"	"DNA"	""	""
"0000320108"	"00318927"	"1"	"03707"	"03707"	"2013-07-12 20:02:22"	"00085"	"2014-04-30 09:50:10"	"IHC;SEQ;Western"	"DNA"	""	""
"0000320109"	"00318928"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320110"	"00318929"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320111"	"00318930"	"1"	"00736"	"00736"	"2014-10-06 15:54:05"	"00085"	"2015-04-13 10:35:14"	"SEQ"	"DNA"	""	""
"0000320112"	"00318931"	"1"	"00736"	"00736"	"2013-07-31 09:13:41"	"00085"	"2020-02-11 09:54:05"	"SEQ"	"DNA"	""	""
"0000320113"	"00318932"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320114"	"00318933"	"1"	"00736"	"00736"	"2014-10-03 12:56:14"	"00085"	"2020-02-12 09:04:14"	"SEQ"	"DNA"	""	""
"0000320115"	"00318934"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320116"	"00318935"	"1"	"00736"	"00736"	"2014-10-03 12:59:28"	"00085"	"2020-02-12 16:14:36"	"SEQ"	"DNA"	""	""
"0000320117"	"00318936"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320118"	"00318937"	"1"	"00085"	"00085"	"2020-04-01 14:16:51"	""	""	"?"	"DNA"	""	""
"0000320119"	"00318938"	"1"	"03705"	"03705"	"2018-06-19 16:45:31"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320120"	"00318939"	"1"	"00085"	"00085"	"2020-01-15 10:34:34"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320121"	"00318940"	"1"	"03711"	"03711"	"2015-04-28 17:34:24"	"00085"	"2016-08-02 10:52:38"	"SEQ-NG"	"DNA"	""	""
"0000320122"	"00318941"	"1"	"00085"	"00085"	"2009-06-19 11:42:27"	"00085"	"2013-08-27 16:21:48"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320123"	"00318942"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320124"	"00318943"	"1"	"03704"	"00085"	"2009-06-18 15:46:16"	"00085"	"2014-06-30 11:27:46"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320125"	"00318944"	"1"	"00736"	"00736"	"2014-10-03 12:57:39"	"00085"	"2020-02-11 09:57:03"	"SEQ"	"DNA"	""	""
"0000320126"	"00318945"	"1"	"03705"	"03705"	"2018-06-20 11:24:32"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320127"	"00318946"	"1"	"03704"	"00085"	"2009-06-18 15:48:40"	"00085"	"2014-06-30 11:30:21"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320128"	"00318947"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320129"	"00318948"	"1"	"00085"	"00085"	"2009-04-07 15:22:57"	"00085"	"2011-08-25 13:01:44"	"RT-PCR;SEQ"	"RNA"	""	""
"0000320130"	"00318949"	"1"	"00085"	"00085"	"2009-04-07 15:30:40"	"00085"	"2020-06-30 15:05:46"	"?"	"?"	""	""
"0000320131"	"00318950"	"1"	"03707"	"03707"	"2013-07-12 19:16:28"	"00085"	"2014-04-30 09:21:21"	"IHC;SEQ;Western"	"DNA"	""	""
"0000320132"	"00318951"	"1"	"03704"	"00085"	"2014-06-18 08:50:46"	"00085"	"2014-06-30 11:32:06"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320133"	"00318952"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320134"	"00318953"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320135"	"00318954"	"1"	"00085"	"00085"	"2020-01-15 11:20:48"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320136"	"00318955"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320137"	"00318956"	"1"	"00736"	"00736"	"2014-10-03 13:05:37"	"00085"	"2020-02-11 09:57:47"	"SEQ"	"DNA"	""	""
"0000320138"	"00318957"	"1"	"00085"	"00085"	"2020-02-11 15:57:26"	"00085"	"2020-07-01 16:57:50"	"MLPA;RT-PCR;SEQ"	"DNA"	""	""
"0000320139"	"00318958"	"1"	"00085"	"00085"	"2009-04-07 15:53:38"	"00085"	"2011-08-25 13:02:50"	"?"	"?"	""	""
"0000320140"	"00318959"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320141"	"00318960"	"1"	"00085"	"00085"	"2020-02-17 14:58:13"	"00085"	"2020-02-17 14:59:51"	"SEQ-NG;SEQ"	"DNA"	""	""
"0000320142"	"00318961"	"1"	"00085"	"00085"	"2009-04-22 15:48:22"	"00085"	"2014-02-27 16:27:15"	"RT-PCR;SEQ"	"RNA"	""	""
"0000320143"	"00318962"	"1"	"00085"	"00085"	"2013-02-05 13:41:59"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320144"	"00318963"	"1"	"03711"	"03711"	"2015-05-15 01:22:14"	"00085"	"2016-08-02 11:56:15"	"SEQ-NG"	"DNA"	""	""
"0000320145"	"00318964"	"1"	"00736"	"00736"	"2014-10-03 13:10:48"	"00085"	"2020-02-11 11:01:18"	"SEQ"	"DNA"	""	""
"0000320146"	"00318965"	"1"	"00085"	"00085"	"2009-06-19 10:33:42"	"00085"	"2011-08-25 11:44:10"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320147"	"00318966"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320148"	"00318967"	"1"	"03704"	"00085"	"2014-06-30 13:46:40"	"00085"	"2014-06-30 13:47:18"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320149"	"00318968"	"1"	"00736"	"00736"	"2014-10-03 13:23:16"	"00085"	"2020-02-11 11:01:53"	"SEQ"	"DNA"	""	""
"0000320150"	"00318969"	"1"	"00085"	"00085"	"2020-01-06 15:24:54"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320151"	"00318970"	"1"	"00085"	"00085"	"2013-03-18 09:57:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320152"	"00318971"	"1"	"00085"	"00085"	"2009-04-22 16:19:18"	"00085"	"2011-08-25 13:05:01"	"RT-PCR;SEQ"	"RNA"	""	""
"0000320153"	"00318972"	"1"	"00085"	"00085"	"2009-04-22 16:45:34"	"00085"	"2014-06-30 13:48:37"	"PCR;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000320154"	"00318973"	"1"	"00736"	"00736"	"2013-07-31 13:22:22"	"00085"	"2020-02-11 11:02:08"	"SEQ"	"DNA"	""	""
"0000320155"	"00318974"	"1"	"00085"	"00085"	"2020-02-11 16:08:15"	""	""	"MLPA;RT-PCR;SEQ"	"DNA"	""	""
"0000320156"	"00318975"	"1"	"00085"	"00085"	"2009-06-18 13:13:27"	"00085"	"2011-08-25 13:05:37"	"RT-PCR;SEQ;CMC"	"RNA"	""	""
"0000320157"	"00318976"	"1"	"00085"	"00085"	"2014-04-28 12:58:48"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320158"	"00318977"	"1"	"00736"	"00736"	"2014-10-03 13:18:15"	"00085"	"2020-02-11 11:02:23"	"SEQ"	"DNA"	""	""
"0000320159"	"00318978"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320160"	"00318979"	"1"	"00736"	"00736"	"2014-10-03 13:15:08"	"00085"	"2020-02-11 11:02:38"	"SEQ"	"DNA"	""	""
"0000320161"	"00318980"	"1"	"00085"	"00085"	"2009-04-23 09:11:21"	"00085"	"2011-08-25 11:50:43"	"?"	"?"	""	""
"0000320162"	"00318981"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320163"	"00318982"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320164"	"00318983"	"1"	"01233"	"01233"	"2018-04-07 23:19:47"	"00085"	"2020-02-17 13:01:58"	"SEQ-NG"	"DNA"	""	""
"0000320165"	"00318984"	"1"	"00085"	"00085"	"2010-07-09 13:08:09"	"00085"	"2011-08-25 11:40:57"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320166"	"00318985"	"1"	"00085"	"00085"	"2010-08-23 09:34:49"	"00085"	"2011-08-25 13:06:03"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320167"	"00318986"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320168"	"00318987"	"1"	"00085"	"00085"	"2008-09-24 09:18:02"	"00085"	"2011-08-25 13:06:32"	"SEQ"	"DNA"	""	""
"0000320169"	"00318988"	"1"	"03707"	"03707"	"2013-07-12 20:10:17"	"00085"	"2014-04-30 09:57:17"	"IHC;SEQ;Western"	"DNA"	""	""
"0000320170"	"00318989"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320171"	"00318990"	"1"	"00736"	"00736"	"2013-07-30 12:41:05"	"00085"	"2020-02-05 17:22:42"	"SEQ"	"DNA"	""	""
"0000320172"	"00318991"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320173"	"00318992"	"1"	"03711"	"03711"	"2015-05-15 01:25:34"	"00085"	"2016-08-02 13:00:33"	"SEQ-NG"	"DNA"	""	""
"0000320174"	"00318993"	"1"	"00085"	"00085"	"2020-02-11 16:09:34"	""	""	"MLPA;RT-PCR;SEQ"	"DNA"	""	""
"0000320175"	"00318994"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320176"	"00318995"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320177"	"00318996"	"1"	"00465"	"00465"	"2010-09-30 14:01:14"	"00085"	"2010-10-06 15:39:52"	"SEQ"	"DNA"	""	""
"0000320178"	"00318997"	"1"	"03704"	"00085"	"2009-06-18 15:50:56"	"00085"	"2014-06-30 13:51:13"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320179"	"00318998"	"1"	"00085"	"00085"	"2009-06-19 11:10:59"	"00085"	"2011-08-25 13:07:22"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320180"	"00318999"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320181"	"00319000"	"1"	"00085"	"00085"	"2009-06-19 11:14:15"	"00085"	"2011-08-25 13:08:13"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320182"	"00319001"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320183"	"00319002"	"1"	"00465"	"00465"	"2010-09-30 14:19:27"	"00085"	"2010-10-06 15:43:26"	"SEQ"	"DNA"	""	""
"0000320184"	"00319003"	"1"	"03704"	"00085"	"2011-02-16 11:30:29"	"00085"	"2014-06-30 14:01:09"	"PCR;SEQ"	"DNA"	""	""
"0000320185"	"00319004"	"1"	"03704"	"00085"	"2009-05-01 15:15:44"	"00085"	"2014-06-30 14:03:13"	"PCR;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000320186"	"00319005"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320187"	"00319006"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320188"	"00319007"	"1"	"03711"	"03711"	"2015-05-15 01:27:54"	"00085"	"2016-08-02 11:54:37"	"SEQ-NG"	"DNA"	""	""
"0000320189"	"00319008"	"1"	"00475"	"00475"	"2010-01-19 23:07:09"	"00085"	"2010-03-09 13:26:19"	"SEQ"	"DNA"	""	""
"0000320190"	"00319009"	"1"	"00085"	"00085"	"2011-11-01 16:02:33"	"00085"	"2014-04-03 15:50:12"	"RT-PCR;SEQ"	"RNA"	""	""
"0000320191"	"00319010"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320192"	"00319011"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320193"	"00319012"	"1"	"00085"	"00085"	"2012-03-06 14:26:51"	""	""	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320194"	"00319013"	"1"	"03704"	"00085"	"2009-06-18 15:53:07"	"00085"	"2014-06-30 14:30:28"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320195"	"00319014"	"1"	"03704"	"00085"	"2009-06-18 15:54:39"	"00085"	"2014-06-30 14:32:25"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320196"	"00319015"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	"00085"	"2014-07-22 12:47:37"	"RT-PCR;SEQ"	"RNA"	""	""
"0000320197"	"00319016"	"1"	"00085"	"00085"	"2012-11-13 16:03:58"	"00085"	"2012-11-13 16:04:29"	"arraySEQ"	"DNA"	""	""
"0000320198"	"00319017"	"1"	"03704"	"00085"	"2009-05-01 15:17:45"	"00085"	"2014-06-30 14:34:24"	"PCR;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000320199"	"00319018"	"1"	"03704"	"00085"	"2009-05-01 15:19:50"	"00085"	"2014-06-30 14:36:07"	"PCR;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000320200"	"00319019"	"1"	"00085"	"00085"	"2020-01-15 11:23:00"	"00085"	"2020-02-12 09:06:13"	"MLPA;RT-PCR;SEQ"	"DNA"	""	""
"0000320201"	"00319020"	"1"	"03704"	"00085"	"2011-02-16 10:55:14"	"00085"	"2014-06-30 15:38:37"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320202"	"00319021"	"1"	"00736"	"00085"	"2012-06-07 11:41:53"	"00085"	"2020-02-12 09:08:05"	"PCR;SEQ"	"DNA"	""	""
"0000320203"	"00319022"	"1"	"00085"	"00085"	"2009-05-01 15:25:07"	"00085"	"2011-08-25 13:08:47"	"RT-PCR;SEQ"	"RNA"	""	""
"0000320204"	"00319023"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320205"	"00319024"	"1"	"00736"	"00736"	"2013-07-31 12:51:44"	"00085"	"2020-02-11 11:04:15"	"SEQ"	"DNA"	""	""
"0000320206"	"00319025"	"1"	"03704"	"00085"	"2009-05-01 15:26:59"	"00085"	"2014-06-30 15:40:12"	"PCR;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000320207"	"00319026"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320208"	"00319027"	"1"	"03704"	"00085"	"2009-05-01 15:34:10"	"00085"	"2014-06-30 15:42:30"	"PCR;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000320209"	"00319028"	"1"	"00085"	"00085"	"2009-05-01 15:45:11"	"00085"	"2011-08-25 12:41:45"	"DGGE;RT-PCR;SEQ"	"RNA"	""	""
"0000320210"	"00319029"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320211"	"00319030"	"1"	"00085"	"00085"	"2009-05-01 16:04:44"	"00085"	"2011-08-25 16:25:39"	"DGGE;RT-PCR;SEQ"	"RNA"	""	""
"0000320212"	"00319031"	"1"	"03704"	"00085"	"2009-05-01 16:19:38"	"00085"	"2014-06-30 15:44:50"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320213"	"00319032"	"1"	"00085"	"00085"	"2013-06-24 16:55:35"	"00085"	"2013-06-24 16:56:42"	"SEQ"	"DNA"	""	""
"0000320214"	"00319033"	"1"	"00736"	"00736"	"2013-07-31 14:30:37"	"00085"	"2020-02-12 09:09:08"	"SEQ"	"DNA"	""	""
"0000320215"	"00319034"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320216"	"00319035"	"1"	"00736"	"00736"	"2013-07-31 09:18:11"	"00085"	"2020-02-11 11:04:54"	"SEQ"	"DNA"	""	""
"0000320217"	"00319036"	"1"	"03704"	"00085"	"2009-05-01 16:22:19"	"00085"	"2014-06-30 16:05:26"	"PCR;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000320218"	"00319037"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320219"	"00319038"	"1"	"00736"	"00736"	"2013-07-31 13:09:00"	"00085"	"2020-02-11 11:05:36"	"SEQ"	"DNA"	""	""
"0000320220"	"00319039"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320221"	"00319040"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320222"	"00319041"	"1"	"03704"	"00085"	"2009-06-16 14:56:46"	"00085"	"2014-06-30 16:07:25"	"PCR;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000320223"	"00319042"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320224"	"00319043"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320225"	"00319044"	"1"	"03711"	"03711"	"2015-05-15 01:31:48"	"00085"	"2016-08-02 12:47:37"	"SEQ-NG"	"DNA"	""	""
"0000320226"	"00319045"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320227"	"00319046"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320228"	"00319047"	"1"	"00085"	"00085"	"2010-11-26 08:31:17"	"00085"	"2011-08-25 11:58:53"	"?"	"?"	""	""
"0000320229"	"00319048"	"1"	"00085"	"00085"	"2012-03-07 09:21:22"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320230"	"00319049"	"1"	"00085"	"00085"	"2009-06-16 15:15:32"	""	""	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000320231"	"00319050"	"1"	"03704"	"00085"	"2009-06-16 15:00:44"	"00085"	"2014-06-30 16:10:59"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320232"	"00319051"	"1"	"00736"	"00736"	"2013-07-30 09:48:34"	"00085"	"2020-02-11 11:06:12"	"SEQ"	"DNA"	""	""
"0000320233"	"00319052"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320234"	"00319053"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320235"	"00319054"	"1"	"00085"	"00085"	"2009-06-16 15:28:22"	"00085"	"2011-08-25 13:24:57"	"DGGE;RT-PCR;SEQ"	"RNA"	""	""
"0000320236"	"00319055"	"1"	"03707"	"03707"	"2013-07-12 19:54:46"	"00085"	"2014-04-30 09:35:05"	"IHC;SEQ;Western"	"DNA"	""	""
"0000320237"	"00319056"	"1"	"03711"	"03711"	"2015-05-15 01:34:35"	"00085"	"2016-08-02 13:02:57"	"SEQ-NG"	"DNA"	""	""
"0000320238"	"00319057"	"1"	"03704"	"00085"	"2011-02-16 10:58:56"	"00085"	"2014-06-30 16:22:36"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320239"	"00319058"	"1"	"00085"	"00085"	"2020-03-10 17:14:25"	""	""	"SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000320240"	"00319059"	"1"	"03704"	"00085"	"2011-02-16 11:35:55"	"00085"	"2014-07-01 15:46:46"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320241"	"00319060"	"1"	"03707"	"03707"	"2013-07-12 20:18:13"	"00085"	"2014-04-30 09:59:50"	"IHC;SEQ;Western"	"DNA"	""	""
"0000320242"	"00319061"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320243"	"00319062"	"1"	"03704"	"00085"	"2009-06-16 15:33:19"	"00085"	"2014-07-01 15:48:52"	"PCR;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000320244"	"00319063"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320245"	"00319064"	"1"	"03704"	"00085"	"2014-04-07 16:54:58"	"00085"	"2014-07-01 15:55:03"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320246"	"00319065"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320247"	"00319066"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320248"	"00319067"	"1"	"01233"	"01233"	"2018-04-07 23:22:26"	"00085"	"2020-02-17 13:02:12"	"SEQ-NG"	"DNA"	""	""
"0000320249"	"00319068"	"1"	"00085"	"00085"	"2009-06-16 15:41:25"	"00085"	"2011-08-25 13:09:36"	"SEQ"	"DNA"	""	""
"0000320250"	"00319069"	"1"	"00736"	"00736"	"2014-10-03 13:28:28"	"00085"	"2020-02-11 11:06:32"	"SEQ"	"DNA"	""	""
"0000320251"	"00319070"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320252"	"00319071"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320253"	"00319072"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320254"	"00319073"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320255"	"00319074"	"1"	"00085"	"00085"	"2009-06-16 15:47:37"	"00085"	"2011-08-25 13:10:07"	"RT-PCR;SEQ"	"RNA"	""	""
"0000320256"	"00319075"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320257"	"00319076"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320258"	"00319077"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320259"	"00319078"	"1"	"00085"	"00085"	"2015-05-06 13:15:38"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320260"	"00319079"	"1"	"03705"	"03705"	"2018-06-20 13:31:35"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320261"	"00319080"	"1"	"03704"	"00085"	"2009-06-17 08:35:12"	"00085"	"2014-07-01 15:56:57"	"PCR;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000320262"	"00319081"	"1"	"00085"	"00085"	"2012-03-07 10:25:58"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320263"	"00319082"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320264"	"00319083"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320265"	"00319084"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320266"	"00319085"	"1"	"00736"	"00736"	"2014-10-03 13:24:53"	"00085"	"2020-02-11 11:05:50"	"SEQ"	"DNA"	""	""
"0000320267"	"00319086"	"1"	"03704"	"00085"	"2009-06-17 08:36:51"	"00085"	"2014-07-01 16:08:43"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320268"	"00319087"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320269"	"00319088"	"1"	"00736"	"00736"	"2013-07-30 09:39:57"	"00085"	"2020-02-11 11:06:53"	"SEQ"	"DNA"	""	""
"0000320270"	"00319089"	"1"	"00085"	"00085"	"2014-02-27 16:00:57"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320271"	"00319090"	"1"	"03704"	"00085"	"2014-04-08 09:20:00"	"00085"	"2014-07-01 16:10:21"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320272"	"00319091"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320273"	"00319092"	"1"	"00085"	"00085"	"2020-01-07 10:41:36"	""	""	"?"	"DNA"	""	""
"0000320274"	"00319093"	"1"	"00085"	"00085"	"2010-07-09 13:37:58"	"00085"	"2011-08-25 11:40:57"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320275"	"00319094"	"1"	"03704"	"00085"	"2009-06-18 16:00:20"	"00085"	"2020-02-27 10:25:15"	"PCR"	"DNA;RNA"	""	""
"0000320276"	"00319095"	"1"	"03704"	"00085"	"2009-06-18 16:01:31"	"00085"	"2014-07-04 16:33:55"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320277"	"00319096"	"1"	"00085"	"00085"	"2009-06-19 11:49:12"	"00085"	"2011-08-25 13:10:40"	"PCR;RT-PCR;SEQ;CMC;NUC"	"DNA;RNA"	""	""
"0000320278"	"00319097"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320279"	"00319098"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320280"	"00319099"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320281"	"00319100"	"1"	"03705"	"03705"	"2018-06-20 13:09:15"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320282"	"00319101"	"1"	"00085"	"00085"	"2020-02-27 10:21:59"	""	""	"SEQ"	"DNA"	""	""
"0000320283"	"00319102"	"1"	"00736"	"00736"	"2013-07-31 14:43:07"	"00085"	"2020-02-11 11:07:09"	"SEQ"	"DNA"	""	""
"0000320284"	"00319103"	"1"	"00085"	"00085"	"2010-07-09 13:49:37"	"00085"	"2011-08-25 11:40:57"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320285"	"00319104"	"1"	"00085"	"00085"	"2019-12-18 14:28:25"	""	""	"SEQ-NG"	"DNA"	""	""
"0000320286"	"00319105"	"1"	"00085"	"00085"	"2009-06-17 08:42:59"	"00085"	"2011-08-25 13:12:29"	"RT-PCR;SEQ"	"RNA"	""	""
"0000320287"	"00319106"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320288"	"00319107"	"1"	"03704"	"00085"	"2011-02-16 11:04:35"	"00085"	"2014-07-07 10:26:13"	"PCR;SEQ"	"DNA"	""	""
"0000320289"	"00319108"	"1"	"00085"	"00085"	"2020-01-15 11:28:34"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320290"	"00319109"	"1"	"00736"	"00736"	"2013-07-30 12:57:43"	"00085"	"2015-04-13 10:49:59"	"SEQ"	"DNA"	""	""
"0000320291"	"00319110"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320292"	"00319111"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320293"	"00319112"	"1"	"00085"	"00085"	"2015-03-18 14:34:48"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320294"	"00319113"	"1"	"03704"	"00085"	"2009-06-17 08:50:24"	"00085"	"2014-07-01 16:49:58"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320295"	"00319114"	"1"	"00736"	"00736"	"2013-07-31 09:31:16"	"00085"	"2020-02-12 09:09:43"	"SEQ"	"DNA"	""	""
"0000320296"	"00319115"	"1"	"00085"	"00085"	"2009-07-02 15:14:29"	"00085"	"2011-02-21 15:49:12"	"PCR;SEQ"	"DNA"	""	""
"0000320297"	"00319116"	"1"	"00736"	"00736"	"2013-07-30 14:24:50"	"00085"	"2020-02-12 09:12:58"	"SEQ"	"DNA"	""	""
"0000320298"	"00319117"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320299"	"00319118"	"1"	"00736"	"00736"	"2014-10-03 13:36:08"	"00085"	"2020-02-11 11:12:08"	"SEQ"	"DNA"	""	""
"0000320300"	"00319119"	"1"	"00085"	"00085"	"2019-12-19 11:07:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000320301"	"00319120"	"1"	"00736"	"00736"	"2014-10-03 13:32:36"	"00085"	"2020-02-12 09:13:50"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320302"	"00319121"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320303"	"00319122"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320304"	"00319123"	"1"	"00085"	"00085"	"2020-01-15 11:36:51"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320305"	"00319124"	"1"	"00085"	"00085"	"2012-03-07 10:28:29"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320306"	"00319125"	"1"	"03704"	"00085"	"2009-06-17 08:52:22"	"00085"	"2014-07-02 09:37:46"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320307"	"00319126"	"1"	"00085"	"00085"	"2009-06-17 08:56:49"	"00085"	"2011-08-25 13:12:59"	"RT-PCR;SEQ;HD"	"RNA"	""	""
"0000320308"	"00319127"	"1"	"00085"	"00085"	"2020-01-15 11:38:16"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320309"	"00319128"	"1"	"00085"	"00085"	"2009-11-19 16:04:55"	"00085"	"2011-08-24 16:01:29"	"MCA;PCR;SEQ"	"DNA"	""	""
"0000320310"	"00319129"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320311"	"00319130"	"1"	"03704"	"00085"	"2009-06-17 08:58:47"	"00085"	"2014-07-02 09:50:45"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320312"	"00319131"	"1"	"00085"	"00085"	"2020-01-15 11:39:47"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320313"	"00319132"	"1"	"00085"	"00085"	"2012-10-12 12:08:47"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320314"	"00319133"	"1"	"00085"	"00085"	"2015-06-11 14:49:10"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320315"	"00319134"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320316"	"00319135"	"1"	"03704"	"00085"	"2009-06-17 09:00:13"	"00085"	"2014-07-02 09:52:42"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320317"	"00319136"	"1"	"00085"	"00085"	"2009-06-19 10:09:07"	"00085"	"2011-08-25 13:13:26"	"PCR;RT-PCR;SEQ;NUC"	"DNA;RNA"	""	""
"0000320318"	"00319137"	"1"	"03707"	"03707"	"2013-07-12 20:12:01"	"00085"	"2014-04-30 09:58:15"	"IHC;SEQ;Western"	"DNA"	""	""
"0000320319"	"00319138"	"1"	"03704"	"00085"	"2014-07-02 10:09:46"	"00085"	"2014-07-02 10:10:17"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320320"	"00319139"	"1"	"03704"	"00085"	"2014-07-02 10:53:54"	"00085"	"2014-07-02 10:54:42"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320321"	"00319140"	"1"	"00736"	"00736"	"2014-10-03 13:30:16"	"00085"	"2020-02-11 11:13:41"	"SEQ"	"DNA"	""	""
"0000320322"	"00319141"	"1"	"00085"	"00085"	"2009-06-24 09:07:41"	"00085"	"2011-08-25 13:14:28"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320323"	"00319142"	"1"	"00085"	"00085"	"2010-07-09 15:55:45"	"00085"	"2011-08-25 11:40:57"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320324"	"00319143"	"1"	"00736"	"00736"	"2013-07-31 09:45:27"	"00085"	"2020-01-17 10:16:12"	"SEQ"	"DNA"	""	""
"0000320325"	"00319144"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320326"	"00319145"	"1"	"00085"	"00085"	"2009-06-19 10:40:14"	"00085"	"2013-09-13 14:04:51"	"RT-PCR;SEQ"	"RNA"	""	""
"0000320327"	"00319146"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	"00085"	"2014-07-22 11:36:08"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320328"	"00319147"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320329"	"00319148"	"1"	"00085"	"00085"	"2009-06-17 09:06:30"	"00085"	"2011-08-25 13:15:17"	"RT-PCR;SEQ;CMC"	"RNA"	""	""
"0000320330"	"00319149"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320331"	"00319150"	"1"	"00736"	"00736"	"2013-07-30 13:37:24"	"00085"	"2020-02-11 11:13:58"	"SEQ"	"DNA"	""	""
"0000320332"	"00319151"	"1"	"00085"	"00085"	"2020-01-15 11:41:17"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320333"	"00319152"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320334"	"00319153"	"1"	"00736"	"00736"	"2014-10-03 13:37:54"	""	""	"SEQ"	"DNA"	""	""
"0000320335"	"00319154"	"1"	"03704"	"00085"	"2011-02-16 11:08:01"	"00085"	"2014-07-02 11:01:43"	"PCR;SEQ"	"DNA"	""	""
"0000320336"	"00319155"	"1"	"03707"	"03707"	"2013-07-12 19:00:59"	"00085"	"2014-04-30 09:20:17"	"IHC;SEQ;Southern"	"DNA"	""	""
"0000320337"	"00319156"	"1"	"00085"	"00085"	"2009-06-19 11:04:12"	"00085"	"2011-08-25 12:41:45"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320338"	"00319157"	"1"	"03704"	"00085"	"2009-06-18 16:03:48"	"00085"	"2014-07-07 10:30:23"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320339"	"00319158"	"1"	"03704"	"00085"	"2009-06-18 16:04:42"	"00085"	"2014-07-02 11:10:13"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320340"	"00319159"	"1"	"00085"	"00085"	"2010-07-14 09:00:31"	"00085"	"2011-08-25 11:40:57"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320341"	"00319160"	"1"	"03707"	"03707"	"2013-07-12 20:14:21"	"00085"	"2014-04-30 09:59:09"	"IHC;SEQ;Western"	"DNA"	""	""
"0000320342"	"00319161"	"1"	"03704"	"00085"	"2014-07-02 11:05:00"	"00085"	"2014-07-02 11:05:51"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320343"	"00319162"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320344"	"00319163"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320345"	"00319164"	"1"	"03704"	"00085"	"2009-06-17 09:15:32"	"00085"	"2014-07-02 11:13:29"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320346"	"00319165"	"1"	"03704"	"00085"	"2009-06-17 09:17:24"	"00085"	"2014-07-02 11:21:04"	"PCR;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000320347"	"00319166"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320348"	"00319167"	"1"	"00736"	"00736"	"2013-07-31 14:28:11"	"00085"	"2020-02-11 11:14:14"	"SEQ"	"DNA"	""	""
"0000320349"	"00319168"	"1"	"00736"	"00736"	"2013-07-31 14:35:27"	"00085"	"2020-02-11 11:25:19"	"SEQ"	"DNA"	""	""
"0000320350"	"00319169"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320351"	"00319170"	"1"	"00085"	"00085"	"2019-12-19 12:41:15"	"00085"	"2020-08-13 12:22:23"	"SEQ"	"DNA"	""	""
"0000320352"	"00319171"	"1"	"00085"	"00085"	"2009-06-17 09:24:26"	"00085"	"2011-08-25 13:15:54"	"RT-PCR;SEQ"	"RNA"	""	""
"0000320353"	"00319172"	"1"	"00085"	"00085"	"2020-02-26 12:56:46"	""	""	"SEQ-NG;PCRm;PCR;SEQ"	"DNA"	""	""
"0000320354"	"00319173"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320355"	"00319174"	"1"	"00085"	"00085"	"2017-02-13 08:19:32"	"00085"	"2017-02-13 08:19:50"	"SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000320356"	"00319175"	"1"	"00085"	"00085"	"2009-06-17 09:28:54"	"00085"	"2011-08-25 13:16:25"	"RT-PCR;SEQ"	"RNA"	""	""
"0000320357"	"00319176"	"1"	"03704"	"00085"	"2009-06-17 09:32:35"	"00085"	"2014-07-02 11:24:01"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320358"	"00319177"	"1"	"00085"	"00085"	"2009-06-17 09:37:59"	"00085"	"2011-08-25 13:16:59"	"RT-PCR;SEQ"	"RNA"	""	""
"0000320359"	"00319178"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320360"	"00319179"	"1"	"00085"	"00085"	"2014-09-15 14:42:47"	"00085"	"2014-09-15 14:45:10"	"SEQ"	"DNA"	""	""
"0000320361"	"00319180"	"1"	"00736"	"00736"	"2014-10-03 13:40:51"	"00085"	"2020-02-12 09:15:22"	"SEQ"	"DNA"	""	""
"0000320362"	"00319181"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320363"	"00319182"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320364"	"00319183"	"1"	"00085"	"00085"	"2019-08-12 12:54:53"	""	""	"SEQ"	"RNA"	""	""
"0000320365"	"00319184"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320366"	"00319185"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320367"	"00319186"	"1"	"00085"	"00085"	"2020-01-09 10:14:54"	""	""	"?"	"DNA"	""	""
"0000320368"	"00319187"	"1"	"00085"	"00085"	"2020-01-06 15:27:07"	"00085"	"2020-01-28 15:52:46"	"PCR;SEQ"	"DNA"	""	""
"0000320369"	"00319188"	"1"	"00085"	"00085"	"2020-01-08 10:14:20"	"00085"	"2020-01-28 15:54:23"	"PCR;SEQ"	"DNA"	""	""
"0000320370"	"00319189"	"1"	"00085"	"00085"	"2009-06-18 13:21:04"	"00085"	"2011-08-25 11:44:10"	"NUC;RT-PCR;SEQ"	"RNA"	""	""
"0000320371"	"00319190"	"1"	"00085"	"00085"	"2009-06-19 11:54:03"	"00085"	"2011-08-25 13:17:32"	"?"	"?"	""	""
"0000320372"	"00319191"	"1"	"00736"	"00736"	"2013-07-30 14:27:55"	"00085"	"2020-02-11 11:26:28"	"SEQ"	"DNA"	""	""
"0000320373"	"00319192"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320374"	"00319193"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320375"	"00319194"	"1"	"03704"	"00085"	"2009-06-17 09:45:17"	"00085"	"2014-07-02 11:26:09"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320376"	"00319195"	"1"	"01233"	"01233"	"2018-04-07 22:48:44"	"00085"	"2020-02-17 13:00:10"	"SEQ-NG"	"DNA"	""	""
"0000320377"	"00319196"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320378"	"00319197"	"1"	"00085"	"00085"	"2009-06-18 13:25:08"	"00085"	"2011-08-25 13:18:03"	"PCR;SEQ"	"DNA"	""	""
"0000320379"	"00319198"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320380"	"00319199"	"1"	"03705"	"03705"	"2018-06-20 13:06:29"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320381"	"00319200"	"1"	"00085"	"00085"	"2009-06-17 09:51:49"	"00085"	"2011-08-25 13:18:28"	"RT-PCR;SEQ;CMC"	"RNA"	""	""
"0000320382"	"00319201"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320383"	"00319202"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320384"	"00319203"	"1"	"00736"	"00736"	"2013-07-30 13:10:19"	"00085"	"2015-04-13 10:52:19"	"SEQ"	"DNA"	""	""
"0000320385"	"00319204"	"1"	"03704"	"00085"	"2009-06-18 16:08:51"	"00085"	"2014-07-02 11:31:28"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320386"	"00319205"	"1"	"00085"	"00085"	"2010-07-14 09:03:06"	"00085"	"2011-08-25 11:40:57"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320387"	"00319206"	"1"	"00085"	"00085"	"2009-06-18 16:06:55"	"00085"	"2011-08-25 11:38:44"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320388"	"00319207"	"1"	"00736"	"00736"	"2013-07-31 10:06:40"	"00085"	"2015-04-13 10:52:36"	"SEQ"	"DNA"	""	""
"0000320389"	"00319208"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320390"	"00319209"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320391"	"00319210"	"1"	"00085"	"00085"	"2011-06-28 11:40:14"	"00085"	"2011-06-28 11:45:04"	"PCR;SEQ"	"DNA"	""	""
"0000320392"	"00319211"	"1"	"00085"	"00085"	"2019-08-13 08:38:48"	""	""	"arrayCGH;SEQ-NG;SEQ"	"DNA"	""	""
"0000320393"	"00319212"	"1"	"00085"	"00085"	"2020-03-03 16:18:05"	""	""	"SEQ-NG;SEQ"	"DNA"	""	""
"0000320394"	"00319213"	"1"	"03704"	"00085"	"2009-06-17 09:53:16"	"00085"	"2014-07-02 11:33:28"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320395"	"00319214"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320396"	"00319215"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320397"	"00319216"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320398"	"00319217"	"1"	"00085"	"00085"	"2009-06-17 10:02:00"	"00085"	"2011-08-25 11:44:10"	"NUC;RT-PCR;SEQ"	"RNA"	""	""
"0000320399"	"00319218"	"1"	"03704"	"00085"	"2009-06-17 10:07:03"	"00085"	"2014-07-02 11:35:35"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320400"	"00319219"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320401"	"00319220"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320402"	"00319221"	"1"	"00085"	"00085"	"2009-06-17 10:11:35"	"00085"	"2011-08-25 13:19:08"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000320403"	"00319222"	"1"	"00085"	"00085"	"2009-06-17 10:15:47"	"00085"	"2009-06-19 09:54:38"	"?"	"?"	""	""
"0000320404"	"00319223"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320405"	"00319224"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320406"	"00319225"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320407"	"00319226"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320408"	"00319227"	"1"	"03704"	"00085"	"2009-06-18 16:10:29"	"00085"	"2014-07-02 11:49:26"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320409"	"00319228"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320410"	"00319229"	"1"	"00736"	"00085"	"2012-06-07 10:18:35"	"00085"	"2020-02-11 11:26:45"	"PCR;SEQ"	"DNA"	""	""
"0000320411"	"00319230"	"1"	"00736"	"00736"	"2014-10-03 13:45:43"	""	""	"SEQ"	"DNA"	""	""
"0000320412"	"00319231"	"1"	"00085"	"00085"	"2020-01-15 11:46:11"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320413"	"00319232"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320414"	"00319233"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320415"	"00319234"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320416"	"00319235"	"1"	"00085"	"00085"	"2015-02-04 16:01:16"	""	""	"SEQ"	"DNA"	""	""
"0000320417"	"00319236"	"1"	"00085"	"00085"	"2020-01-24 15:19:20"	"00085"	"2020-01-28 15:56:23"	"?"	"DNA"	""	""
"0000320418"	"00319237"	"1"	"00085"	"00085"	"2012-03-07 10:30:39"	"00085"	"2012-03-07 10:31:13"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320419"	"00319238"	"1"	"03704"	"00085"	"2014-07-04 09:44:27"	"00085"	"2014-07-04 09:45:14"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320420"	"00319239"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320421"	"00319240"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320422"	"00319241"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320423"	"00319242"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320424"	"00319243"	"1"	"00085"	"00085"	"2012-08-08 13:25:52"	"00085"	"2014-07-04 09:57:04"	"PCR;SEQ"	"DNA"	""	""
"0000320425"	"00319244"	"1"	"00736"	"00736"	"2013-07-30 13:00:55"	"00085"	"2020-02-11 11:27:02"	"SEQ"	"DNA"	""	""
"0000320426"	"00319245"	"1"	"00085"	"00085"	"2009-06-19 11:58:53"	"00085"	"2011-08-25 11:50:43"	"?"	"?"	""	""
"0000320427"	"00319246"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320428"	"00319247"	"1"	"00085"	"00085"	"2020-01-15 11:47:03"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320429"	"00319248"	"1"	"03704"	"00085"	"2014-07-04 11:48:03"	""	""	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320430"	"00319249"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320431"	"00319250"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320432"	"00319251"	"1"	"00085"	"00085"	"2012-11-28 15:40:00"	"00085"	"2012-11-28 15:46:31"	"MCA;PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320433"	"00319252"	"1"	"03704"	"00085"	"2014-07-02 12:55:24"	"00085"	"2014-07-02 14:01:08"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320434"	"00319253"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320435"	"00319254"	"1"	"00736"	"00736"	"2013-07-30 13:31:16"	"00085"	"2020-02-12 09:20:01"	"SEQ"	"DNA"	""	""
"0000320436"	"00319255"	"1"	"00736"	"00736"	"2014-10-03 13:58:07"	"00085"	"2020-02-11 11:27:44"	"SEQ"	"DNA"	""	""
"0000320437"	"00319256"	"1"	"01233"	"01233"	"2018-04-07 22:52:18"	"00085"	"2020-02-17 13:00:27"	"SEQ-NG"	"DNA"	""	""
"0000320438"	"00319257"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320439"	"00319258"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320440"	"00319259"	"1"	"00736"	"00736"	"2013-07-30 13:35:20"	"00085"	"2020-02-11 11:31:22"	"SEQ"	"DNA"	""	""
"0000320441"	"00319260"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320442"	"00319261"	"1"	"03704"	"00085"	"2009-06-17 10:18:36"	"00085"	"2014-07-04 14:20:15"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320443"	"00319262"	"1"	"00736"	"00736"	"2014-10-03 13:52:30"	"00085"	"2020-02-11 11:32:58"	"SEQ"	"DNA"	""	""
"0000320444"	"00319263"	"1"	"03704"	"00085"	"2009-06-17 10:20:16"	"00085"	"2014-07-04 14:22:31"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320445"	"00319264"	"1"	"00736"	"00736"	"2013-07-31 14:26:08"	"00085"	"2020-02-11 11:33:24"	"SEQ"	"DNA"	""	""
"0000320446"	"00319265"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320447"	"00319266"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320448"	"00319267"	"1"	"00085"	"00085"	"2009-06-17 10:24:25"	"00085"	"2011-08-25 11:50:43"	"?"	"?"	""	""
"0000320449"	"00319268"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320450"	"00319269"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320451"	"00319270"	"1"	"03704"	"00085"	"2009-06-17 10:29:04"	"00085"	"2014-07-04 14:30:04"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320452"	"00319271"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	"00085"	"2014-07-22 11:37:57"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320453"	"00319272"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320454"	"00319273"	"1"	"00085"	"00085"	"2020-01-08 13:51:23"	"00085"	"2020-01-28 15:57:48"	"SEQ"	"DNA"	""	""
"0000320455"	"00319274"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320456"	"00319275"	"1"	"03704"	"00085"	"2011-02-16 11:21:31"	"00085"	"2014-07-04 14:34:44"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320457"	"00319276"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320458"	"00319277"	"1"	"03707"	"03707"	"2013-07-12 19:49:45"	"00085"	"2014-04-30 09:33:28"	"IHC;SEQ;Western"	"DNA"	""	""
"0000320459"	"00319278"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320460"	"00319279"	"1"	"00085"	"00085"	"2009-06-17 10:32:50"	"00085"	"2011-08-25 11:48:07"	"DGGE;RT-PCR;SEQ"	"RNA"	""	""
"0000320461"	"00319280"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320462"	"00319281"	"1"	"00085"	"00085"	"2012-03-07 10:33:48"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320463"	"00319282"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320464"	"00319283"	"1"	"00085"	"00085"	"2020-04-01 14:01:19"	"00085"	"2020-04-01 14:05:44"	"?"	"DNA"	""	""
"0000320465"	"00319284"	"1"	"00085"	"00085"	"2009-06-17 10:35:25"	"00085"	"2011-08-25 11:48:07"	"DGGE;RT-PCR;SEQ"	"RNA"	""	""
"0000320466"	"00319285"	"1"	"00085"	"00085"	"2009-06-17 10:38:44"	"00085"	"2011-08-25 12:44:05"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000320467"	"00319286"	"1"	"03704"	"00085"	"2009-06-17 10:39:38"	"00085"	"2014-07-04 14:36:36"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320468"	"00319287"	"1"	"00085"	"00085"	"2009-06-17 10:42:53"	"00085"	"2011-08-25 11:50:43"	"?"	"?"	""	""
"0000320469"	"00319288"	"1"	"00085"	"00085"	"2012-03-07 10:35:22"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320470"	"00319289"	"1"	"00085"	"00085"	"2012-03-07 10:36:21"	"00085"	"2012-03-07 10:36:47"	"PCR;SEQ"	"DNA"	""	""
"0000320471"	"00319290"	"1"	"00736"	"00736"	"2013-07-31 12:59:05"	"00085"	"2020-02-11 11:36:12"	"SEQ"	"DNA"	""	""
"0000320472"	"00319291"	"1"	"03704"	"00085"	"2009-06-17 10:45:49"	"00085"	"2014-07-04 14:39:07"	"PCR;RT-PCR;SEQ"	"DNA"	""	""
"0000320473"	"00319292"	"1"	"00736"	"00736"	"2013-07-31 13:11:27"	"00085"	"2020-01-17 10:18:01"	"SEQ"	"DNA"	""	""
"0000320474"	"00319293"	"1"	"03711"	"03711"	"2015-05-15 01:00:32"	"00085"	"2019-09-12 16:02:42"	"SEQ-NG"	"DNA"	""	""
"0000320475"	"00319294"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320476"	"00319295"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320477"	"00319296"	"1"	"00085"	"00085"	"2009-06-17 10:57:08"	"00085"	"2011-08-25 13:19:40"	"RT-PCR;SEQ"	"RNA"	""	""
"0000320478"	"00319297"	"1"	"00085"	"00085"	"2009-06-17 11:16:29"	"00085"	"2011-08-25 11:53:14"	"DGGE;RT-PCR;SEQ"	"RNA"	""	""
"0000320479"	"00319298"	"1"	"00085"	"00085"	"2009-06-17 11:18:26"	"00085"	"2011-08-25 11:44:10"	"NUC;RT-PCR;SEQ"	"RNA"	""	""
"0000320480"	"00319299"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320481"	"00319300"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320482"	"00319301"	"1"	"03711"	"03711"	"2015-05-15 01:43:44"	"00085"	"2016-08-02 13:07:26"	"SEQ-NG"	"DNA"	""	""
"0000320483"	"00319302"	"1"	"00085"	"00085"	"2009-06-17 13:04:48"	"00085"	"2009-06-17 13:06:34"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000320484"	"00319303"	"1"	"00085"	"00085"	"2011-05-10 18:46:26"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320485"	"00319304"	"1"	"00085"	"00085"	"2009-06-17 13:15:10"	"00085"	"2011-08-25 13:20:09"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000320486"	"00319305"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320487"	"00319306"	"1"	"00736"	"00736"	"2014-10-03 14:02:56"	"00085"	"2020-02-11 11:36:36"	"SEQ"	"DNA"	""	""
"0000320488"	"00319307"	"1"	"03704"	"00085"	"2009-06-17 13:18:19"	"00085"	"2014-07-04 14:44:05"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320489"	"00319308"	"1"	"00475"	"00475"	"2010-01-19 22:54:49"	""	""	"SEQ"	"DNA"	""	""
"0000320490"	"00319309"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320491"	"00319310"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320492"	"00319311"	"1"	"00085"	"00085"	"2020-04-01 14:44:18"	""	""	"?"	"DNA"	""	""
"0000320493"	"00319312"	"1"	"00736"	"00736"	"2014-10-03 14:04:53"	"00085"	"2020-02-11 11:36:54"	"SEQ"	"DNA"	""	""
"0000320494"	"00319313"	"1"	"03704"	"00085"	"2009-06-17 13:20:11"	"00085"	"2014-07-04 14:46:07"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320495"	"00319314"	"1"	"03707"	"03707"	"2013-07-12 20:03:30"	"00085"	"2014-04-30 09:50:57"	"IHC;SEQ;Western"	"DNA"	""	""
"0000320496"	"00319315"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320497"	"00319316"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320498"	"00319317"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320499"	"00319318"	"1"	"00085"	"00085"	"2009-06-17 13:26:34"	"00085"	"2011-08-25 13:20:41"	"RT-PCR;SEQ"	"RNA"	""	""
"0000320500"	"00319319"	"1"	"00085"	"00085"	"2009-06-17 13:31:02"	"00085"	"2012-05-29 09:26:30"	"DGGE;RT-PCR;SEQ"	"RNA"	""	""
"0000320501"	"00319320"	"1"	"00475"	"00475"	"2010-01-19 22:40:02"	""	""	"SEQ"	"DNA"	""	""
"0000320502"	"00319321"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320503"	"00319322"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"SEQ"	"DNA"	""	""
"0000320504"	"00319323"	"1"	"03704"	"00085"	"2009-06-17 13:35:12"	"00085"	"2014-07-04 14:58:46"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320505"	"00319324"	"1"	"03704"	"00085"	"2009-06-17 13:37:17"	"00085"	"2014-07-04 15:02:37"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320506"	"00319325"	"1"	"00085"	"00085"	"2009-06-17 13:39:10"	"00085"	"2012-05-29 09:24:45"	"DGGE;RT-PCR;SEQ"	"RNA"	""	""
"0000320507"	"00319326"	"1"	"00085"	"00085"	"2020-01-15 11:49:06"	"00085"	"2020-01-20 09:35:45"	"PCR;SEQ"	"DNA"	""	""
"0000320508"	"00319327"	"1"	"00085"	"00085"	"2009-06-17 13:50:06"	"00085"	"2012-05-29 09:23:10"	"RT-PCR;SEQ"	"RNA"	""	""
"0000320509"	"00319328"	"1"	"03704"	"00085"	"2009-06-17 13:52:23"	"00085"	"2014-07-04 15:09:14"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320510"	"00319329"	"1"	"03704"	"00085"	"2009-06-17 13:54:40"	"00085"	"2014-07-04 15:05:17"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320511"	"00319330"	"1"	"03707"	"03707"	"2013-07-12 20:01:03"	"00085"	"2014-04-30 09:49:22"	"IHC;SEQ;Western"	"DNA"	""	""
"0000320512"	"00319331"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320513"	"00319332"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320514"	"00319333"	"1"	"03704"	"03704"	"2014-07-22 10:25:37"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320515"	"00319334"	"1"	"00085"	"00085"	"2012-03-07 10:39:42"	""	""	"PCR"	"DNA"	""	""
"0000320516"	"00319335"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320517"	"00319336"	"1"	"03704"	"00085"	"2011-02-16 11:25:49"	"00085"	"2014-07-04 15:10:51"	"PCR;SEQ"	"DNA"	""	""
"0000320518"	"00319337"	"1"	"00085"	"00085"	"2020-01-15 16:49:24"	"00085"	"2020-01-15 16:50:32"	"SEQ-NG;PCR"	"DNA"	""	""
"0000320519"	"00319338"	"1"	"00736"	"00736"	"2014-10-03 14:22:06"	"00085"	"2015-04-13 10:55:08"	"SEQ"	"DNA"	""	""
"0000320520"	"00319339"	"1"	"00085"	"00085"	"2009-07-01 16:24:14"	"00085"	"2011-08-25 11:45:56"	"PCR;SEQ"	"DNA"	""	""
"0000320521"	"00319340"	"1"	"00085"	"00085"	"2009-07-02 15:17:48"	"00085"	"2011-02-21 15:53:41"	"PCR;SEQ"	"DNA"	""	""
"0000320522"	"00319341"	"1"	"00085"	"00085"	"2015-10-12 10:47:57"	""	""	"SEQ-NG"	"DNA"	""	""
"0000320523"	"00319342"	"1"	"00736"	"00736"	"2014-10-03 14:00:10"	"00085"	"2020-02-12 09:30:08"	"SEQ"	"DNA"	""	""
"0000320524"	"00319343"	"1"	"00736"	"00736"	"2014-10-03 14:09:48"	"00085"	"2020-02-11 15:25:04"	"SEQ"	"DNA"	""	""
"0000320525"	"00319344"	"1"	"00736"	"00736"	"2013-07-30 13:28:27"	"00085"	"2015-04-13 10:55:41"	"SEQ"	"DNA"	""	""
"0000320526"	"00319345"	"1"	"00736"	"00736"	"2014-10-03 14:17:56"	"00085"	"2020-01-17 10:20:22"	"SEQ"	"DNA"	""	""
"0000320527"	"00319346"	"1"	"00085"	"00085"	"2017-01-13 16:50:03"	""	""	"SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000320528"	"00319347"	"1"	"00736"	"00736"	"2014-10-03 14:07:57"	""	""	"SEQ"	"DNA"	""	""
"0000320529"	"00319348"	"1"	"00085"	"00085"	"2020-02-26 12:59:47"	""	""	"SEQ-NG;PCRm;PCR;SEQ"	"DNA"	""	""
"0000320530"	"00319349"	"1"	"00085"	"00085"	"2020-02-27 17:13:14"	""	""	"SEQ-NG;SEQ"	"DNA"	""	""
"0000320531"	"00319350"	"1"	"00085"	"00085"	"2009-11-30 15:17:13"	"00085"	"2010-03-09 14:18:33"	"?"	"?"	""	""
"0000320532"	"00319351"	"1"	"00085"	"00085"	"2019-12-20 11:05:29"	""	""	"?"	"DNA"	""	""
"0000320533"	"00319352"	"1"	"00736"	"00736"	"2014-10-03 14:15:35"	"00085"	"2015-04-13 10:56:14"	"SEQ"	"DNA"	""	""
"0000320534"	"00319353"	"1"	"00736"	"00736"	"2013-07-30 10:53:19"	"00085"	"2020-02-04 08:57:34"	"SEQ"	"DNA"	""	""
"0000320535"	"00319354"	"1"	"00736"	"00736"	"2013-07-31 09:20:40"	"00085"	"2015-04-13 10:56:34"	"SEQ"	"DNA"	""	""
"0000320536"	"00319355"	"1"	"00085"	"00085"	"2020-02-04 09:02:05"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320537"	"00319356"	"1"	"00085"	"00085"	"2020-02-18 09:48:57"	""	""	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000320538"	"00319357"	"1"	"00736"	"00736"	"2013-07-31 14:22:51"	"00085"	"2020-02-12 09:25:35"	"SEQ"	"DNA"	""	""
"0000320539"	"00319358"	"1"	"03704"	"00085"	"2011-02-16 11:38:50"	"00085"	"2015-10-06 13:39:35"	"PCR;SEQ"	"DNA"	""	""
"0000320540"	"00319359"	"1"	"03704"	"00085"	"2014-04-08 09:25:49"	"00085"	"2014-07-04 15:18:08"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320541"	"00319360"	"1"	"00085"	"00085"	"2020-02-18 10:53:10"	""	""	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000320542"	"00319361"	"1"	"00085"	"00085"	"2010-11-26 08:39:41"	"00085"	"2011-08-25 11:58:53"	"?"	"?"	""	""
"0000320543"	"00319362"	"1"	"00736"	"00736"	"2014-10-03 14:23:26"	""	""	"SEQ"	"DNA"	""	""
"0000320544"	"00319363"	"1"	"00736"	"00736"	"2014-10-03 14:24:34"	"00085"	"2015-04-13 10:57:05"	"SEQ"	"DNA"	""	""
"0000320545"	"00319364"	"1"	"00085"	"00085"	"2015-04-14 08:37:19"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320546"	"00319365"	"1"	"03711"	"03711"	"2015-05-15 01:49:50"	""	""	"SEQ-NG"	"DNA"	""	""
"0000320547"	"00319366"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320548"	"00319367"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320549"	"00319368"	"1"	"00736"	"00736"	"2013-07-31 13:16:41"	"00085"	"2020-02-11 11:38:12"	"SEQ"	"DNA"	""	""
"0000320550"	"00319369"	"1"	"01233"	"01233"	"2018-04-07 23:30:34"	"00085"	"2020-02-17 13:02:27"	"SEQ-NG"	"DNA"	""	""
"0000320551"	"00319370"	"1"	"00085"	"00085"	"2009-07-01 16:34:20"	"00085"	"2011-08-25 11:45:56"	"PCR;SEQ"	"DNA"	""	""
"0000320552"	"00319371"	"1"	"00085"	"00085"	"2017-04-04 15:05:50"	""	""	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000320553"	"00319372"	"1"	"00085"	"00085"	"2020-01-15 11:50:39"	"00085"	"2020-01-20 10:12:35"	"PCR;SEQ"	"DNA"	""	""
"0000320554"	"00319373"	"1"	"03708"	"03708"	"2014-01-31 22:20:43"	"00085"	"2014-02-03 09:49:28"	"PCR;SEQ"	"DNA"	""	""
"0000320555"	"00319374"	"1"	"00736"	"00736"	"2013-07-31 09:28:41"	"00085"	"2020-02-11 11:38:23"	"SEQ"	"DNA"	""	""
"0000320556"	"00319375"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320557"	"00319376"	"1"	"00085"	"00085"	"2015-10-12 10:59:32"	""	""	"SEQ-NG"	"DNA"	""	""
"0000320558"	"00319377"	"1"	"00085"	"00085"	"2020-01-15 13:37:28"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320559"	"00319378"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320560"	"00319379"	"1"	"03704"	"00085"	"2009-06-17 16:33:14"	"00085"	"2014-07-04 15:21:45"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320561"	"00319380"	"1"	"00085"	"00085"	"2015-04-14 08:22:11"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320562"	"00319381"	"1"	"00085"	"00085"	"2009-11-30 15:20:05"	"00085"	"2016-07-18 14:01:17"	"?"	"?"	""	""
"0000320563"	"00319382"	"1"	"03707"	"03707"	"2013-07-12 20:26:43"	"00085"	"2014-04-30 10:05:08"	"IHC;SEQ;Western"	"DNA"	""	""
"0000320564"	"00319383"	"1"	"00085"	"00085"	"2015-04-14 08:14:20"	"00085"	"2016-07-18 14:04:47"	"PCR;SEQ"	"DNA"	""	""
"0000320565"	"00319384"	"1"	"03711"	"03711"	"2015-05-15 01:03:29"	"00085"	"2016-08-02 11:44:41"	"SEQ-NG"	"DNA"	""	""
"0000320566"	"00319385"	"1"	"03704"	"03704"	"2014-07-18 07:47:44"	""	""	"PCR; RT-PCR; SEQ"	"DNA;RNA"	""	""
"0000320567"	"00319386"	"1"	"00085"	"00085"	"2015-04-14 08:28:27"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000378305"	"00377101"	"1"	"01164"	"01164"	"2021-07-03 15:59:06"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000378365"	"00377160"	"1"	"00085"	"00085"	"2021-07-15 14:44:20"	""	""	"SEQ"	"DNA"	""	""
"0000389497"	"00388258"	"1"	"00085"	"00085"	"2021-11-03 10:22:00"	"00085"	"2021-11-03 10:35:53"	"SEQ"	"DNA"	""	""
"0000399308"	"00398065"	"1"	"01164"	"01164"	"2021-12-31 11:21:02"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	"WES"
"0000399373"	"00398130"	"1"	"00006"	"00006"	"2021-12-31 15:48:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000403984"	"00402743"	"1"	"04256"	"04256"	"2022-02-09 16:06:33"	"00085"	"2022-03-29 10:43:48"	"RT-PCR;SEQ"	"DNA;RNA;protein"	"Skin fibroblasts"	"EM of fibroblast collagen fibers"
"0000406025"	"00404786"	"1"	"04256"	"04256"	"2022-03-08 05:17:20"	"00001"	"2022-03-30 12:48:10"	"SEQ-NG"	"DNA"	""	""
"0000407695"	"00406453"	"1"	"04256"	"04256"	"2022-03-30 21:06:37"	""	""	"?"	"DNA"	""	""
"0000411273"	"00410008"	"1"	"04305"	"04305"	"2022-05-17 15:08:41"	"00085"	"2022-05-22 13:19:23"	"?"	"DNA"	"blood"	""
"0000412401"	"00411136"	"1"	"04305"	"04305"	"2022-06-02 03:14:07"	"04305"	"2022-06-02 03:34:44"	"SEQ-NG"	"DNA"	"connective"	""
"0000412461"	"00411196"	"1"	"04305"	"04305"	"2022-06-07 04:44:46"	""	""	"SEQ-NG"	"DNA"	"Unknown"	""
"0000412720"	"00411451"	"1"	"04305"	"04305"	"2022-06-14 05:07:11"	""	""	"SEQ-NG"	"DNA"	"connective"	""
"0000412721"	"00411452"	"1"	"04305"	"04305"	"2022-06-14 05:45:21"	""	""	"SEQ-NG"	"DNA"	"unknown"	""
"0000412722"	"00411453"	"1"	"04305"	"04305"	"2022-06-14 06:14:43"	""	""	"SEQ-NG"	"DNA"	"unknown"	""
"0000412723"	"00411454"	"1"	"04305"	"04305"	"2022-06-14 06:27:00"	""	""	"SEQ-NG"	"DNA"	"unknown"	""
"0000412724"	"00411455"	"1"	"04305"	"04305"	"2022-06-14 06:39:48"	""	""	"SEQ-NG"	"DNA"	"unknown"	""
"0000413264"	"00411992"	"1"	"04305"	"04305"	"2022-06-21 03:32:49"	""	""	"SEQ-NG"	"DNA"	"skin"	""
"0000413265"	"00411993"	"1"	"04305"	"04305"	"2022-06-21 04:42:24"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	""
"0000414063"	"00412792"	"1"	"04305"	"04305"	"2022-07-05 00:51:09"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	""
"0000414064"	"00412793"	"1"	"04305"	"04305"	"2022-07-05 00:58:59"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	""
"0000414065"	"00412794"	"1"	"04305"	"04305"	"2022-07-05 01:07:18"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	""
"0000414066"	"00412795"	"1"	"04305"	"04305"	"2022-07-05 01:18:02"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	""
"0000414067"	"00412796"	"1"	"04305"	"04305"	"2022-07-05 01:22:34"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	""
"0000414510"	"00413238"	"1"	"04305"	"04305"	"2022-07-13 02:22:51"	""	""	"SEQ-NG-I"	"DNA"	"skin"	""
"0000415982"	"00414701"	"1"	"04305"	"04305"	"2022-08-02 09:11:44"	""	""	"?"	"DNA"	"unknown"	"WGS"
"0000415983"	"00414702"	"1"	"04305"	"04305"	"2022-08-02 09:32:19"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	""
"0000417098"	"00415817"	"1"	"04305"	"04305"	"2022-08-17 05:44:51"	""	""	"SEQ-NG"	"DNA"	"saliva and buccal cells"	""
"0000417099"	"00415818"	"1"	"04305"	"04305"	"2022-08-17 06:44:28"	""	""	"PCR"	"DNA"	""	""
"0000418307"	"00417027"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418325"	"00417045"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418327"	"00417047"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418344"	"00417064"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418391"	"00417111"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418392"	"00417112"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418408"	"00417128"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418410"	"00417130"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418435"	"00417155"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418440"	"00417160"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000420510"	"00419206"	"1"	"04305"	"04305"	"2022-10-18 05:04:39"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	""
"0000420511"	"00419207"	"1"	"04305"	"04305"	"2022-10-18 05:15:45"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	""
"0000420512"	"00419208"	"1"	"04305"	"04305"	"2022-10-18 05:23:54"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	""
"0000420513"	"00419209"	"1"	"04305"	"04305"	"2022-10-18 05:30:11"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	""
"0000425850"	"00424539"	"1"	"04305"	"04305"	"2022-11-20 17:20:01"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000425851"	"00424540"	"1"	"04305"	"04305"	"2022-11-20 17:56:21"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000425852"	"00424541"	"1"	"04305"	"04305"	"2022-11-20 18:16:37"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000425853"	"00424542"	"1"	"04305"	"04305"	"2022-11-20 18:31:21"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000425854"	"00424543"	"1"	"04305"	"04305"	"2022-11-20 18:42:46"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000425855"	"00424544"	"1"	"04305"	"04305"	"2022-11-20 19:00:14"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000425856"	"00424545"	"1"	"04305"	"04305"	"2022-11-20 19:07:18"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000425857"	"00424546"	"1"	"04305"	"04305"	"2022-11-20 19:16:05"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000425858"	"00424547"	"1"	"04305"	"04305"	"2022-11-20 19:29:13"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000425859"	"00424548"	"1"	"04305"	"04305"	"2022-11-20 19:39:53"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000425860"	"00424549"	"1"	"04305"	"04305"	"2022-11-20 19:46:31"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000425861"	"00424550"	"1"	"04305"	"04305"	"2022-11-20 19:55:41"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000425862"	"00424551"	"1"	"04305"	"04305"	"2022-11-20 20:02:27"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000425863"	"00424552"	"1"	"04305"	"04305"	"2022-11-20 20:15:22"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000425864"	"00424553"	"1"	"04305"	"04305"	"2022-11-20 20:24:54"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000425865"	"00424554"	"1"	"04305"	"04305"	"2022-11-20 20:34:47"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000425866"	"00424555"	"1"	"04305"	"04305"	"2022-11-20 20:54:27"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000425867"	"00424556"	"1"	"04305"	"04305"	"2022-11-20 21:00:57"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000425869"	"00424558"	"1"	"04305"	"04305"	"2022-11-21 00:13:43"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000425870"	"00424559"	"1"	"04305"	"04305"	"2022-11-21 00:21:55"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000425871"	"00424560"	"1"	"04305"	"04305"	"2022-11-21 00:34:07"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000425872"	"00424561"	"1"	"04305"	"04305"	"2022-11-21 01:12:33"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000425875"	"00424562"	"1"	"04305"	"04305"	"2022-11-21 01:48:28"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000426105"	"00424792"	"1"	"04305"	"04305"	"2022-11-22 02:57:51"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000426106"	"00424793"	"1"	"04305"	"04305"	"2022-11-22 03:09:08"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000426107"	"00424794"	"1"	"04305"	"04305"	"2022-11-22 03:15:47"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000426108"	"00424795"	"1"	"04305"	"04305"	"2022-11-22 03:24:59"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000426109"	"00424796"	"1"	"04305"	"04305"	"2022-11-22 03:31:24"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000426110"	"00424797"	"1"	"04305"	"04305"	"2022-11-22 03:37:25"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000426111"	"00424798"	"1"	"04305"	"04305"	"2022-11-22 03:43:38"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000426112"	"00424799"	"1"	"04305"	"04305"	"2022-11-22 03:48:58"	""	""	"SEQ-NG-IT"	"DNA"	"peripheral blood"	""
"0000426227"	"00424909"	"1"	"04423"	"04423"	"2022-11-23 08:26:13"	""	""	"SEQ"	"DNA"	""	""
"0000426271"	"00424952"	"1"	"04423"	"04423"	"2022-11-24 00:30:21"	""	""	"SEQ-NG-I"	"RNA"	"Cultured fibroblast"	""
"0000431681"	"00430267"	"1"	"04452"	"04452"	"2023-01-16 16:10:09"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431683"	"00430269"	"1"	"04452"	"04452"	"2023-01-16 16:45:24"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431684"	"00430271"	"1"	"04452"	"04452"	"2023-01-16 16:56:30"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431686"	"00430272"	"1"	"04452"	"04452"	"2023-01-16 17:12:22"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431709"	"00430295"	"1"	"04452"	"04452"	"2023-01-17 10:26:00"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000431711"	"00430296"	"1"	"04452"	"04452"	"2023-01-17 11:36:32"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431712"	"00430297"	"1"	"04452"	"04452"	"2023-01-17 11:46:32"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431713"	"00430298"	"1"	"04452"	"04452"	"2023-01-17 11:57:25"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431714"	"00430300"	"1"	"04452"	"04452"	"2023-01-17 12:05:33"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431716"	"00430301"	"1"	"04452"	"04452"	"2023-01-17 12:17:13"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431718"	"00430303"	"1"	"04452"	"04452"	"2023-01-17 12:25:22"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431719"	"00430304"	"1"	"04452"	"04452"	"2023-01-17 12:30:39"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431720"	"00430305"	"1"	"04452"	"04452"	"2023-01-17 12:39:59"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431721"	"00430306"	"1"	"04452"	"04452"	"2023-01-17 12:47:13"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431722"	"00430307"	"1"	"04452"	"04452"	"2023-01-17 12:53:26"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431723"	"00430308"	"1"	"04452"	"04452"	"2023-01-17 12:57:07"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431724"	"00430309"	"1"	"04452"	"04452"	"2023-01-17 13:05:57"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431725"	"00430310"	"1"	"04452"	"04452"	"2023-01-17 13:15:37"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431726"	"00430311"	"1"	"04452"	"04452"	"2023-01-17 13:19:10"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431727"	"00430312"	"1"	"04452"	"04452"	"2023-01-17 13:46:26"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431728"	"00430313"	"1"	"04452"	"04452"	"2023-01-17 13:53:37"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431729"	"00430314"	"1"	"04452"	"04452"	"2023-01-17 13:57:21"	"04452"	"2023-01-17 14:00:09"	"SEQ-NG"	"DNA"	"Blood"	""
"0000431730"	"00430315"	"1"	"04452"	"04452"	"2023-01-17 14:02:52"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431731"	"00430316"	"1"	"04452"	"04452"	"2023-01-17 14:14:47"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431732"	"00430317"	"1"	"04452"	"04452"	"2023-01-17 14:18:39"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431733"	"00430318"	"1"	"04452"	"04452"	"2023-01-17 14:37:32"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431734"	"00430319"	"1"	"04452"	"04452"	"2023-01-17 14:41:14"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431735"	"00430320"	"1"	"04452"	"04452"	"2023-01-17 14:58:17"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431736"	"00430321"	"1"	"04452"	"04452"	"2023-01-17 15:04:54"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431737"	"00430322"	"1"	"04452"	"04452"	"2023-01-17 15:12:16"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431738"	"00430323"	"1"	"04452"	"04452"	"2023-01-17 15:21:36"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431739"	"00430324"	"1"	"04452"	"04452"	"2023-01-17 15:26:12"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431740"	"00430325"	"1"	"04452"	"04452"	"2023-01-17 15:32:06"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431741"	"00430326"	"1"	"04452"	"04452"	"2023-01-17 15:35:42"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431742"	"00430327"	"1"	"04452"	"04452"	"2023-01-17 15:51:05"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431743"	"00430328"	"1"	"04452"	"04452"	"2023-01-17 15:57:00"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431744"	"00430329"	"1"	"04452"	"04452"	"2023-01-17 16:03:07"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431745"	"00430330"	"1"	"04452"	"04452"	"2023-01-17 16:06:46"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431746"	"00430331"	"1"	"04452"	"04452"	"2023-01-17 16:09:45"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000431747"	"00430332"	"1"	"04452"	"04452"	"2023-01-17 16:12:55"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000432130"	"00430719"	"1"	"03312"	"03312"	"2023-01-23 07:38:55"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000433009"	"00431576"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433010"	"00431577"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433011"	"00431578"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433012"	"00431579"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433013"	"00431580"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433014"	"00431581"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433015"	"00431582"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433016"	"00431583"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433017"	"00431584"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433018"	"00431585"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433019"	"00431586"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433020"	"00431587"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433021"	"00431588"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433022"	"00431589"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433023"	"00431590"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433024"	"00431591"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433025"	"00431592"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433026"	"00431593"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"arrayCGH"	"DNA"	""	"blood"
"0000433027"	"00431594"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433028"	"00431595"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433029"	"00431596"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433030"	"00431597"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433031"	"00431598"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433032"	"00431599"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"arrayCGH"	"DNA"	""	"blood"
"0000433033"	"00431600"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433034"	"00431601"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"arrayCGH"	"DNA"	""	"blood"
"0000433035"	"00431602"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433036"	"00431603"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433037"	"00431604"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433038"	"00431605"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433039"	"00431606"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433040"	"00431607"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433041"	"00431608"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433042"	"00431609"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433043"	"00431610"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433044"	"00431611"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433045"	"00431612"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433046"	"00431613"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433047"	"00431614"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433048"	"00431615"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433049"	"00431616"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433050"	"00431617"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433051"	"00431618"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433052"	"00431619"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"arrayCGH"	"DNA"	""	"amniotic fluid"
"0000433053"	"00431620"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433054"	"00431621"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433055"	"00431622"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433056"	"00431623"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433057"	"00431624"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433058"	"00431625"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433059"	"00431626"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433060"	"00431627"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433061"	"00431628"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433062"	"00431629"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433063"	"00431630"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433064"	"00431631"	"1"	"04452"	"04452"	"2023-02-15 15:51:21"	""	""	"SEQ-NG"	"DNA"	""	"blood"
"0000433224"	"00431785"	"1"	"04136"	"00006"	"2023-02-16 14:19:17"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000433267"	"00431828"	"1"	"04136"	"00006"	"2023-02-16 14:19:17"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000439897"	"00438415"	"1"	"00006"	"00006"	"2023-10-20 19:13:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000448280"	"00446705"	"1"	"00006"	"00006"	"2024-01-21 21:30:39"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000450121"	"00448536"	"1"	"02284"	"02284"	"2024-04-02 17:05:10"	""	""	"PCR;SEQ;SEQ-NG-IT"	"DNA"	"blood"	""
"0000454545"	"00452941"	"1"	"04693"	"04693"	"2024-08-06 14:46:59"	""	""	"?"	"DNA"	""	"Sequencing methodology and genes tested not stated."
"0000456422"	"00454811"	"1"	"04746"	"04746"	"2024-09-27 17:52:41"	""	""	"SEQ-NG"	"DNA"	""	""
"0000456543"	"00454930"	"1"	"04746"	"04746"	"2024-09-30 16:19:30"	""	""	"SEQ-NG"	"DNA"	""	""
"0000456952"	"00455338"	"1"	"04746"	"04746"	"2024-10-07 17:06:36"	""	""	"SEQ-NG"	"DNA"	""	""
"0000456953"	"00455339"	"1"	"04746"	"04746"	"2024-10-07 17:15:54"	""	""	"SEQ-NG"	"DNA"	""	""
"0000456954"	"00455340"	"1"	"04746"	"04746"	"2024-10-07 17:20:40"	""	""	"SEQ-NG"	"DNA"	""	""
"0000456955"	"00455341"	"1"	"04746"	"04746"	"2024-10-07 17:24:29"	""	""	"SEQ-NG"	"DNA"	""	""
"0000456956"	"00455342"	"1"	"04746"	"04746"	"2024-10-07 17:28:37"	""	""	"SEQ-NG"	"DNA"	""	""
"0000456957"	"00455343"	"1"	"04746"	"04746"	"2024-10-07 17:31:41"	""	""	"SEQ-NG"	"DNA"	""	""
"0000456958"	"00455344"	"1"	"04746"	"04746"	"2024-10-07 17:44:05"	""	""	"SEQ-NG"	"DNA"	""	""
"0000456976"	"00455362"	"1"	"04746"	"04746"	"2024-10-08 12:08:42"	""	""	"SEQ-NG"	"DNA"	""	""
"0000456977"	"00455363"	"1"	"04746"	"04746"	"2024-10-08 12:12:58"	""	""	"SEQ-NG"	"DNA"	""	""
"0000456979"	"00455365"	"1"	"04746"	"04746"	"2024-10-08 12:16:25"	""	""	"SEQ-NG"	"DNA"	""	""
"0000456982"	"00455368"	"1"	"04746"	"04746"	"2024-10-08 12:23:56"	""	""	"SEQ-NG"	"DNA"	""	""
"0000456984"	"00455370"	"1"	"04746"	"04746"	"2024-10-08 12:29:29"	""	""	"SEQ-NG"	"DNA"	""	""
"0000456986"	"00455372"	"1"	"04746"	"04746"	"2024-10-08 12:33:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000456988"	"00455374"	"1"	"04746"	"04746"	"2024-10-08 12:37:22"	""	""	"SEQ-NG"	"DNA"	""	""
"0000456990"	"00455376"	"1"	"04746"	"04746"	"2024-10-08 12:44:04"	""	""	"SEQ-NG"	"DNA"	""	""
"0000456991"	"00455377"	"1"	"04746"	"04746"	"2024-10-08 12:47:16"	""	""	"SEQ-NG"	"DNA"	""	""
"0000457070"	"00455456"	"1"	"04746"	"04746"	"2024-10-10 11:57:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000457071"	"00455457"	"1"	"04746"	"04746"	"2024-10-10 12:01:30"	""	""	"SEQ-NG"	"DNA"	""	""
"0000457072"	"00455458"	"1"	"04746"	"04746"	"2024-10-10 12:04:29"	""	""	"SEQ-NG"	"DNA"	""	""
"0000457073"	"00455459"	"1"	"04746"	"04746"	"2024-10-10 12:07:47"	""	""	"SEQ-NG"	"DNA"	""	""
"0000457074"	"00455460"	"1"	"04746"	"04746"	"2024-10-10 12:10:28"	""	""	"SEQ-NG"	"DNA"	""	""
"0000457075"	"00455461"	"1"	"04746"	"04746"	"2024-10-10 12:14:50"	""	""	"SEQ-NG"	"DNA"	""	""
"0000457076"	"00455462"	"1"	"04746"	"04746"	"2024-10-10 12:20:02"	""	""	"SEQ-NG"	"DNA"	""	""
"0000457077"	"00455463"	"1"	"04746"	"04746"	"2024-10-10 12:24:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459735"	"00458116"	"1"	"04746"	"04746"	"2024-12-02 16:34:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459736"	"00458117"	"1"	"04746"	"04746"	"2024-12-02 16:39:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459737"	"00458118"	"1"	"04746"	"04746"	"2024-12-02 16:42:58"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459738"	"00458119"	"1"	"04746"	"04746"	"2024-12-02 16:45:44"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459739"	"00458120"	"1"	"04746"	"04746"	"2024-12-02 16:48:07"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459740"	"00458121"	"1"	"04746"	"04746"	"2024-12-02 16:50:50"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459741"	"00458122"	"1"	"04746"	"04746"	"2024-12-02 16:53:18"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459742"	"00458123"	"1"	"04746"	"04746"	"2024-12-02 16:55:56"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459743"	"00458124"	"1"	"04746"	"04746"	"2024-12-02 16:58:38"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459744"	"00458125"	"1"	"04746"	"04746"	"2024-12-02 17:01:02"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459745"	"00458126"	"1"	"04746"	"04746"	"2024-12-02 17:04:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459746"	"00458127"	"1"	"04746"	"04746"	"2024-12-02 17:06:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459747"	"00458128"	"1"	"04746"	"04746"	"2024-12-02 17:12:11"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459748"	"00458129"	"1"	"04746"	"04746"	"2024-12-02 17:15:30"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459749"	"00458130"	"1"	"04746"	"04746"	"2024-12-02 17:18:05"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459750"	"00458131"	"1"	"04746"	"04746"	"2024-12-02 17:20:14"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459751"	"00458132"	"1"	"04746"	"04746"	"2024-12-02 17:23:46"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459752"	"00458133"	"1"	"04746"	"04746"	"2024-12-02 17:25:48"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459753"	"00458134"	"1"	"04746"	"04746"	"2024-12-02 17:28:33"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459754"	"00458135"	"1"	"04746"	"04746"	"2024-12-02 17:30:38"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459755"	"00458136"	"1"	"04746"	"04746"	"2024-12-02 17:32:49"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459765"	"00458146"	"1"	"02544"	"02544"	"2024-12-03 16:04:12"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000459766"	"00458147"	"1"	"02544"	"02544"	"2024-12-03 16:06:34"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000459767"	"00458149"	"1"	"02544"	"02544"	"2024-12-03 16:09:18"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000459768"	"00458150"	"1"	"02544"	"02544"	"2024-12-03 16:10:50"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000459772"	"00458151"	"1"	"02544"	"02544"	"2024-12-03 16:13:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000459773"	"00458152"	"1"	"02544"	"02544"	"2024-12-03 16:14:54"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000459774"	"00458153"	"1"	"02544"	"02544"	"2024-12-03 16:17:24"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000459775"	"00458154"	"1"	"02544"	"02544"	"2024-12-03 16:19:21"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000459787"	"00458166"	"1"	"04746"	"04746"	"2024-12-03 18:01:45"	""	""	"SEQ-NG"	"DNA"	""	""
"0000459788"	"00458167"	"1"	"04746"	"04746"	"2024-12-03 18:04:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000462681"	"00461049"	"1"	"04796"	"00006"	"2024-11-05 16:15:00"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	"fibroblasts"	"mRNA splicing analysis on tissue"
"0000462688"	"00461056"	"1"	"04796"	"00006"	"2024-11-05 16:15:00"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	"fibroblasts"	"mRNA splicing analysis on tissue"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1424
"{{screeningid}}"	"{{geneid}}"
"0000050648"	"COL3A1"
"0000081404"	"COL3A1"
"0000290011"	"COL3A1"
"0000290212"	"COL3A1"
"0000319377"	"COL3A1"
"0000319378"	"COL3A1"
"0000319379"	"COL3A1"
"0000319380"	"COL3A1"
"0000319381"	"COL3A1"
"0000319382"	"COL3A1"
"0000319383"	"COL3A1"
"0000319384"	"COL3A1"
"0000319385"	"COL3A1"
"0000319386"	"COL3A1"
"0000319387"	"COL3A1"
"0000319388"	"COL3A1"
"0000319389"	"COL3A1"
"0000319390"	"COL3A1"
"0000319391"	"COL3A1"
"0000319392"	"COL3A1"
"0000319393"	"COL3A1"
"0000319394"	"COL3A1"
"0000319395"	"COL3A1"
"0000319396"	"COL3A1"
"0000319397"	"COL3A1"
"0000319398"	"COL3A1"
"0000319399"	"COL3A1"
"0000319400"	"COL3A1"
"0000319401"	"COL3A1"
"0000319402"	"COL3A1"
"0000319403"	"COL3A1"
"0000319404"	"COL3A1"
"0000319405"	"COL3A1"
"0000319406"	"COL3A1"
"0000319407"	"COL3A1"
"0000319408"	"COL3A1"
"0000319409"	"COL3A1"
"0000319410"	"COL3A1"
"0000319411"	"COL3A1"
"0000319412"	"COL3A1"
"0000319413"	"COL3A1"
"0000319414"	"COL3A1"
"0000319415"	"COL3A1"
"0000319416"	"COL3A1"
"0000319417"	"COL3A1"
"0000319418"	"COL3A1"
"0000319419"	"COL3A1"
"0000319420"	"COL3A1"
"0000319421"	"COL3A1"
"0000319422"	"COL3A1"
"0000319423"	"COL3A1"
"0000319424"	"COL3A1"
"0000319425"	"COL3A1"
"0000319426"	"COL3A1"
"0000319427"	"COL3A1"
"0000319428"	"COL3A1"
"0000319429"	"COL3A1"
"0000319430"	"COL3A1"
"0000319431"	"COL3A1"
"0000319432"	"COL3A1"
"0000319433"	"COL3A1"
"0000319434"	"COL3A1"
"0000319435"	"COL3A1"
"0000319436"	"COL3A1"
"0000319437"	"COL3A1"
"0000319438"	"COL3A1"
"0000319439"	"COL3A1"
"0000319440"	"COL3A1"
"0000319441"	"COL3A1"
"0000319442"	"COL3A1"
"0000319443"	"COL3A1"
"0000319444"	"COL3A1"
"0000319445"	"COL3A1"
"0000319446"	"COL3A1"
"0000319447"	"COL3A1"
"0000319448"	"COL3A1"
"0000319449"	"COL3A1"
"0000319450"	"COL3A1"
"0000319451"	"COL3A1"
"0000319452"	"COL3A1"
"0000319453"	"COL3A1"
"0000319454"	"COL3A1"
"0000319455"	"COL3A1"
"0000319456"	"COL3A1"
"0000319457"	"COL3A1"
"0000319458"	"COL3A1"
"0000319459"	"COL3A1"
"0000319460"	"COL3A1"
"0000319461"	"COL3A1"
"0000319462"	"COL3A1"
"0000319463"	"COL3A1"
"0000319464"	"COL3A1"
"0000319465"	"COL3A1"
"0000319466"	"COL3A1"
"0000319467"	"COL3A1"
"0000319468"	"COL3A1"
"0000319469"	"COL3A1"
"0000319470"	"COL3A1"
"0000319471"	"COL3A1"
"0000319472"	"COL3A1"
"0000319473"	"COL3A1"
"0000319474"	"COL3A1"
"0000319475"	"COL3A1"
"0000319476"	"COL3A1"
"0000319477"	"COL3A1"
"0000319478"	"COL3A1"
"0000319479"	"COL3A1"
"0000319480"	"COL3A1"
"0000319481"	"COL3A1"
"0000319482"	"COL3A1"
"0000319483"	"COL3A1"
"0000319484"	"COL3A1"
"0000319485"	"COL3A1"
"0000319486"	"COL3A1"
"0000319487"	"COL3A1"
"0000319488"	"COL3A1"
"0000319489"	"COL3A1"
"0000319490"	"COL3A1"
"0000319491"	"COL3A1"
"0000319492"	"COL3A1"
"0000319493"	"COL3A1"
"0000319494"	"COL3A1"
"0000319495"	"COL3A1"
"0000319496"	"COL3A1"
"0000319497"	"COL3A1"
"0000319498"	"COL3A1"
"0000319499"	"COL3A1"
"0000319500"	"COL3A1"
"0000319501"	"COL3A1"
"0000319502"	"COL3A1"
"0000319503"	"COL3A1"
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"0000319505"	"COL3A1"
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"0000319512"	"COL3A1"
"0000319513"	"COL3A1"
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"0000319516"	"COL3A1"
"0000319517"	"COL3A1"
"0000319518"	"COL3A1"
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"0000319520"	"COL3A1"
"0000319521"	"COL3A1"
"0000319522"	"COL3A1"
"0000319523"	"COL3A1"
"0000319524"	"COL3A1"
"0000319525"	"COL3A1"
"0000319526"	"COL3A1"
"0000319527"	"COL3A1"
"0000319528"	"COL3A1"
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"0000319530"	"COL3A1"
"0000319531"	"COL3A1"
"0000319532"	"COL3A1"
"0000319533"	"COL3A1"
"0000319534"	"COL3A1"
"0000319535"	"COL3A1"
"0000319536"	"COL3A1"
"0000319537"	"COL3A1"
"0000319538"	"COL3A1"
"0000319539"	"COL3A1"
"0000319540"	"COL3A1"
"0000319541"	"COL3A1"
"0000319542"	"COL3A1"
"0000319543"	"COL3A1"
"0000319544"	"COL3A1"
"0000319545"	"COL3A1"
"0000319546"	"COL3A1"
"0000319547"	"COL3A1"
"0000319548"	"COL3A1"
"0000319549"	"COL3A1"
"0000319550"	"COL3A1"
"0000319551"	"COL3A1"
"0000319552"	"COL3A1"
"0000319553"	"COL3A1"
"0000319554"	"COL3A1"
"0000319555"	"COL3A1"
"0000319556"	"COL3A1"
"0000319557"	"COL3A1"
"0000319558"	"COL3A1"
"0000319559"	"COL3A1"
"0000319560"	"COL3A1"
"0000319561"	"COL3A1"
"0000319562"	"COL3A1"
"0000319563"	"COL3A1"
"0000319564"	"COL3A1"
"0000319565"	"COL3A1"
"0000319566"	"COL3A1"
"0000319567"	"COL3A1"
"0000319568"	"COL3A1"
"0000319569"	"COL3A1"
"0000319570"	"COL3A1"
"0000319571"	"COL3A1"
"0000319572"	"COL3A1"
"0000319573"	"COL3A1"
"0000319574"	"COL3A1"
"0000319575"	"COL3A1"
"0000319576"	"COL3A1"
"0000319577"	"COL3A1"
"0000319578"	"COL3A1"
"0000319579"	"COL3A1"
"0000319580"	"COL3A1"
"0000319581"	"COL3A1"
"0000319582"	"COL3A1"
"0000319583"	"COL3A1"
"0000319584"	"COL3A1"
"0000319585"	"COL3A1"
"0000319586"	"COL3A1"
"0000319587"	"COL3A1"
"0000319588"	"COL3A1"
"0000319589"	"COL3A1"
"0000319590"	"COL3A1"
"0000319591"	"COL3A1"
"0000319592"	"COL3A1"
"0000319593"	"COL3A1"
"0000319594"	"COL3A1"
"0000319595"	"COL3A1"
"0000319596"	"COL3A1"
"0000319597"	"COL3A1"
"0000319598"	"COL3A1"
"0000319599"	"COL3A1"
"0000319600"	"COL3A1"
"0000319601"	"COL3A1"
"0000319602"	"COL3A1"
"0000319603"	"COL3A1"
"0000319604"	"COL3A1"
"0000319605"	"COL3A1"
"0000319606"	"COL3A1"
"0000319607"	"COL3A1"
"0000319608"	"COL3A1"
"0000319609"	"COL3A1"
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"0000319611"	"COL3A1"
"0000319612"	"COL3A1"
"0000319613"	"COL3A1"
"0000319614"	"COL3A1"
"0000319615"	"COL3A1"
"0000319616"	"COL3A1"
"0000319617"	"COL3A1"
"0000319618"	"COL3A1"
"0000319619"	"COL3A1"
"0000319620"	"COL3A1"
"0000319621"	"COL3A1"
"0000319622"	"COL3A1"
"0000319623"	"COL3A1"
"0000319624"	"COL3A1"
"0000319625"	"COL3A1"
"0000319626"	"COL3A1"
"0000319627"	"COL3A1"
"0000319628"	"COL3A1"
"0000319629"	"COL3A1"
"0000319630"	"COL3A1"
"0000319631"	"COL3A1"
"0000319632"	"COL3A1"
"0000319633"	"COL3A1"
"0000319634"	"COL3A1"
"0000319635"	"COL3A1"
"0000319636"	"COL3A1"
"0000319637"	"COL3A1"
"0000319638"	"COL3A1"
"0000319639"	"COL3A1"
"0000319640"	"COL3A1"
"0000319641"	"COL3A1"
"0000319642"	"COL3A1"
"0000319643"	"COL3A1"
"0000319644"	"COL3A1"
"0000319645"	"COL3A1"
"0000319646"	"COL3A1"
"0000319647"	"COL3A1"
"0000319648"	"COL3A1"
"0000319649"	"COL3A1"
"0000319650"	"COL3A1"
"0000319651"	"COL3A1"
"0000319652"	"COL3A1"
"0000319653"	"COL3A1"
"0000319654"	"COL3A1"
"0000319655"	"COL3A1"
"0000319656"	"COL3A1"
"0000319657"	"COL3A1"
"0000319658"	"COL3A1"
"0000319659"	"COL3A1"
"0000319660"	"COL3A1"
"0000319661"	"COL3A1"
"0000319662"	"COL3A1"
"0000319663"	"COL3A1"
"0000319664"	"COL3A1"
"0000319665"	"COL3A1"
"0000319666"	"COL3A1"
"0000319667"	"COL3A1"
"0000319668"	"COL3A1"
"0000319669"	"COL3A1"
"0000319670"	"COL3A1"
"0000319671"	"COL3A1"
"0000319672"	"COL3A1"
"0000319673"	"COL3A1"
"0000319674"	"COL3A1"
"0000319675"	"COL3A1"
"0000319676"	"COL3A1"
"0000319677"	"COL3A1"
"0000319678"	"COL3A1"
"0000319679"	"COL3A1"
"0000319680"	"COL3A1"
"0000319681"	"COL3A1"
"0000319682"	"COL3A1"
"0000319683"	"COL3A1"
"0000319684"	"COL3A1"
"0000319685"	"COL3A1"
"0000319686"	"COL3A1"
"0000319687"	"COL3A1"
"0000319688"	"COL3A1"
"0000319689"	"COL3A1"
"0000319690"	"COL3A1"
"0000319691"	"COL3A1"
"0000319692"	"COL3A1"
"0000319693"	"COL3A1"
"0000319694"	"COL3A1"
"0000319695"	"COL3A1"
"0000319696"	"COL3A1"
"0000319697"	"COL3A1"
"0000319698"	"COL3A1"
"0000319699"	"COL3A1"
"0000319700"	"COL3A1"
"0000319701"	"COL3A1"
"0000319702"	"COL3A1"
"0000319703"	"COL3A1"
"0000319704"	"COL3A1"
"0000319705"	"COL3A1"
"0000319706"	"COL3A1"
"0000319707"	"COL3A1"
"0000319708"	"COL3A1"
"0000319709"	"COL3A1"
"0000319710"	"COL3A1"
"0000319711"	"COL3A1"
"0000319712"	"COL3A1"
"0000319713"	"COL3A1"
"0000319714"	"COL3A1"
"0000319715"	"COL3A1"
"0000319716"	"COL3A1"
"0000319717"	"COL3A1"
"0000319718"	"COL3A1"
"0000319719"	"COL3A1"
"0000319720"	"COL3A1"
"0000319721"	"COL3A1"
"0000319722"	"COL3A1"
"0000319723"	"COL3A1"
"0000319724"	"COL3A1"
"0000319725"	"COL3A1"
"0000319726"	"COL3A1"
"0000319727"	"COL3A1"
"0000319728"	"COL3A1"
"0000319729"	"COL3A1"
"0000319730"	"COL3A1"
"0000319731"	"COL3A1"
"0000319732"	"COL3A1"
"0000319733"	"COL3A1"
"0000319734"	"COL3A1"
"0000319735"	"COL3A1"
"0000319736"	"COL3A1"
"0000319737"	"COL3A1"
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"0000319741"	"COL3A1"
"0000319742"	"COL3A1"
"0000319743"	"COL3A1"
"0000319744"	"COL3A1"
"0000319745"	"COL3A1"
"0000319746"	"COL3A1"
"0000319747"	"COL3A1"
"0000319748"	"COL3A1"
"0000319749"	"COL3A1"
"0000319750"	"COL3A1"
"0000319751"	"COL3A1"
"0000319752"	"COL3A1"
"0000319753"	"COL3A1"
"0000319754"	"COL3A1"
"0000319755"	"COL3A1"
"0000319756"	"COL3A1"
"0000319757"	"COL3A1"
"0000319758"	"COL3A1"
"0000319759"	"COL3A1"
"0000319760"	"COL3A1"
"0000319761"	"COL3A1"
"0000319762"	"COL3A1"
"0000319763"	"COL3A1"
"0000319764"	"COL3A1"
"0000319765"	"COL3A1"
"0000319766"	"COL3A1"
"0000319767"	"COL3A1"
"0000319768"	"COL3A1"
"0000319769"	"COL3A1"
"0000319770"	"COL3A1"
"0000319771"	"COL3A1"
"0000319772"	"COL3A1"
"0000319773"	"COL3A1"
"0000319774"	"COL3A1"
"0000319775"	"COL3A1"
"0000319776"	"COL3A1"
"0000319777"	"COL3A1"
"0000319778"	"COL3A1"
"0000319779"	"COL3A1"
"0000319780"	"COL3A1"
"0000319781"	"COL3A1"
"0000319782"	"COL3A1"
"0000319783"	"COL3A1"
"0000319784"	"COL3A1"
"0000319785"	"COL3A1"
"0000319786"	"COL3A1"
"0000319787"	"COL3A1"
"0000319788"	"COL3A1"
"0000319789"	"COL3A1"
"0000319790"	"COL3A1"
"0000319791"	"COL3A1"
"0000319792"	"COL3A1"
"0000319793"	"COL3A1"
"0000319794"	"COL3A1"
"0000319795"	"COL3A1"
"0000319796"	"COL3A1"
"0000319797"	"COL3A1"
"0000319798"	"COL3A1"
"0000319799"	"COL3A1"
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"0000319803"	"COL3A1"
"0000319804"	"COL3A1"
"0000319805"	"COL3A1"
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"0000319807"	"COL3A1"
"0000319808"	"COL3A1"
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"0000319862"	"COL3A1"
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"0000319872"	"COL3A1"
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"0000319888"	"COL3A1"
"0000319889"	"COL3A1"
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"0000319892"	"COL3A1"
"0000319893"	"COL3A1"
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"0000319897"	"COL3A1"
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"0000319921"	"COL3A1"
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"0000319925"	"COL3A1"
"0000319926"	"COL3A1"
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"0000319942"	"COL3A1"
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"0000319944"	"COL3A1"
"0000319945"	"COL3A1"
"0000319946"	"COL3A1"
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"0000319950"	"COL3A1"
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"0000319952"	"COL3A1"
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"0000319954"	"COL3A1"
"0000319955"	"COL3A1"
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"0000319981"	"COL3A1"
"0000319982"	"COL3A1"
"0000319983"	"COL3A1"
"0000319984"	"COL3A1"
"0000319985"	"COL3A1"
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"0000319987"	"COL3A1"
"0000319988"	"COL3A1"
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"0000319990"	"COL3A1"
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"0000319992"	"COL3A1"
"0000319993"	"COL3A1"
"0000319994"	"COL3A1"
"0000319995"	"COL3A1"
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"0000319998"	"COL3A1"
"0000319999"	"COL3A1"
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"0000320004"	"COL3A1"
"0000320005"	"COL3A1"
"0000320006"	"COL3A1"
"0000320007"	"COL3A1"
"0000320008"	"COL3A1"
"0000320009"	"COL3A1"
"0000320010"	"COL3A1"
"0000320011"	"COL3A1"
"0000320012"	"COL3A1"
"0000320013"	"COL3A1"
"0000320014"	"COL3A1"
"0000320015"	"COL3A1"
"0000320016"	"COL3A1"
"0000320017"	"COL3A1"
"0000320018"	"COL3A1"
"0000320019"	"COL3A1"
"0000320020"	"COL3A1"
"0000320021"	"COL3A1"
"0000320022"	"COL3A1"
"0000320023"	"COL3A1"
"0000320024"	"COL3A1"
"0000320025"	"COL3A1"
"0000320026"	"COL3A1"
"0000320027"	"COL3A1"
"0000320028"	"COL3A1"
"0000320029"	"COL3A1"
"0000320030"	"COL3A1"
"0000320031"	"COL3A1"
"0000320032"	"COL3A1"
"0000320033"	"COL3A1"
"0000320034"	"COL3A1"
"0000320035"	"COL3A1"
"0000320036"	"COL3A1"
"0000320037"	"COL3A1"
"0000320038"	"COL3A1"
"0000320039"	"COL3A1"
"0000320040"	"COL3A1"
"0000320041"	"COL3A1"
"0000320042"	"COL3A1"
"0000320043"	"COL3A1"
"0000320044"	"COL3A1"
"0000320045"	"COL3A1"
"0000320046"	"COL3A1"
"0000320047"	"COL3A1"
"0000320048"	"COL3A1"
"0000320049"	"COL3A1"
"0000320050"	"COL3A1"
"0000320051"	"COL3A1"
"0000320052"	"COL3A1"
"0000320053"	"COL3A1"
"0000320054"	"COL3A1"
"0000320055"	"COL3A1"
"0000320056"	"COL3A1"
"0000320057"	"COL3A1"
"0000320058"	"COL3A1"
"0000320059"	"COL3A1"
"0000320060"	"COL3A1"
"0000320061"	"COL3A1"
"0000320062"	"COL3A1"
"0000320063"	"COL3A1"
"0000320064"	"COL3A1"
"0000320065"	"COL3A1"
"0000320066"	"COL3A1"
"0000320067"	"COL3A1"
"0000320068"	"COL3A1"
"0000320069"	"COL3A1"
"0000320070"	"COL3A1"
"0000320071"	"COL3A1"
"0000320072"	"COL3A1"
"0000320073"	"COL3A1"
"0000320074"	"COL3A1"
"0000320075"	"COL3A1"
"0000320076"	"COL3A1"
"0000320077"	"COL3A1"
"0000320078"	"COL3A1"
"0000320079"	"COL3A1"
"0000320080"	"COL3A1"
"0000320081"	"COL3A1"
"0000320082"	"COL3A1"
"0000320083"	"COL3A1"
"0000320084"	"COL3A1"
"0000320085"	"COL3A1"
"0000320086"	"COL3A1"
"0000320087"	"COL3A1"
"0000320088"	"COL3A1"
"0000320089"	"COL3A1"
"0000320090"	"COL3A1"
"0000320091"	"COL3A1"
"0000320092"	"COL3A1"
"0000320093"	"COL3A1"
"0000320094"	"COL3A1"
"0000320095"	"COL3A1"
"0000320096"	"COL3A1"
"0000320097"	"COL3A1"
"0000320098"	"COL3A1"
"0000320099"	"COL3A1"
"0000320100"	"COL3A1"
"0000320101"	"COL3A1"
"0000320102"	"COL3A1"
"0000320103"	"COL3A1"
"0000320104"	"COL3A1"
"0000320105"	"COL3A1"
"0000320106"	"COL3A1"
"0000320107"	"COL3A1"
"0000320108"	"COL3A1"
"0000320109"	"COL3A1"
"0000320110"	"COL3A1"
"0000320111"	"COL3A1"
"0000320112"	"COL3A1"
"0000320113"	"COL3A1"
"0000320114"	"COL3A1"
"0000320115"	"COL3A1"
"0000320116"	"COL3A1"
"0000320117"	"COL3A1"
"0000320118"	"COL3A1"
"0000320119"	"COL3A1"
"0000320120"	"COL3A1"
"0000320121"	"COL3A1"
"0000320122"	"COL3A1"
"0000320123"	"COL3A1"
"0000320124"	"COL3A1"
"0000320125"	"COL3A1"
"0000320126"	"COL3A1"
"0000320127"	"COL3A1"
"0000320128"	"COL3A1"
"0000320129"	"COL3A1"
"0000320130"	"COL3A1"
"0000320131"	"COL3A1"
"0000320132"	"COL3A1"
"0000320133"	"COL3A1"
"0000320134"	"COL3A1"
"0000320135"	"COL3A1"
"0000320136"	"COL3A1"
"0000320137"	"COL3A1"
"0000320138"	"COL3A1"
"0000320139"	"COL3A1"
"0000320140"	"COL3A1"
"0000320141"	"COL3A1"
"0000320142"	"COL3A1"
"0000320143"	"COL3A1"
"0000320144"	"COL3A1"
"0000320145"	"COL3A1"
"0000320146"	"COL3A1"
"0000320147"	"COL3A1"
"0000320148"	"COL3A1"
"0000320149"	"COL3A1"
"0000320150"	"COL3A1"
"0000320151"	"COL3A1"
"0000320152"	"COL3A1"
"0000320153"	"COL3A1"
"0000320154"	"COL3A1"
"0000320155"	"COL3A1"
"0000320156"	"COL3A1"
"0000320157"	"COL3A1"
"0000320158"	"COL3A1"
"0000320159"	"COL3A1"
"0000320160"	"COL3A1"
"0000320161"	"COL3A1"
"0000320162"	"COL3A1"
"0000320163"	"COL3A1"
"0000320164"	"COL3A1"
"0000320165"	"COL3A1"
"0000320166"	"COL3A1"
"0000320167"	"COL3A1"
"0000320168"	"COL3A1"
"0000320169"	"COL3A1"
"0000320170"	"COL3A1"
"0000320171"	"COL3A1"
"0000320172"	"COL3A1"
"0000320173"	"COL3A1"
"0000320174"	"COL3A1"
"0000320175"	"COL3A1"
"0000320176"	"COL3A1"
"0000320177"	"COL3A1"
"0000320178"	"COL3A1"
"0000320179"	"COL3A1"
"0000320180"	"COL3A1"
"0000320181"	"COL3A1"
"0000320182"	"COL3A1"
"0000320183"	"COL3A1"
"0000320184"	"COL3A1"
"0000320185"	"COL3A1"
"0000320186"	"COL3A1"
"0000320187"	"COL3A1"
"0000320188"	"COL3A1"
"0000320189"	"COL3A1"
"0000320190"	"COL3A1"
"0000320191"	"COL3A1"
"0000320192"	"COL3A1"
"0000320193"	"COL3A1"
"0000320194"	"COL3A1"
"0000320195"	"COL3A1"
"0000320196"	"COL3A1"
"0000320197"	"COL3A1"
"0000320198"	"COL3A1"
"0000320199"	"COL3A1"
"0000320200"	"COL3A1"
"0000320201"	"COL3A1"
"0000320202"	"COL3A1"
"0000320203"	"COL3A1"
"0000320204"	"COL3A1"
"0000320205"	"COL3A1"
"0000320206"	"COL3A1"
"0000320207"	"COL3A1"
"0000320208"	"COL3A1"
"0000320209"	"COL3A1"
"0000320210"	"COL3A1"
"0000320211"	"COL3A1"
"0000320212"	"COL3A1"
"0000320213"	"COL3A1"
"0000320214"	"COL3A1"
"0000320215"	"COL3A1"
"0000320216"	"COL3A1"
"0000320217"	"COL3A1"
"0000320218"	"COL3A1"
"0000320219"	"COL3A1"
"0000320220"	"COL3A1"
"0000320221"	"COL3A1"
"0000320222"	"COL3A1"
"0000320223"	"COL3A1"
"0000320224"	"COL3A1"
"0000320225"	"COL3A1"
"0000320226"	"COL3A1"
"0000320227"	"COL3A1"
"0000320228"	"COL3A1"
"0000320229"	"COL3A1"
"0000320230"	"COL3A1"
"0000320231"	"COL3A1"
"0000320232"	"COL3A1"
"0000320233"	"COL3A1"
"0000320234"	"COL3A1"
"0000320235"	"COL3A1"
"0000320236"	"COL3A1"
"0000320237"	"COL3A1"
"0000320238"	"COL3A1"
"0000320239"	"COL3A1"
"0000320240"	"COL3A1"
"0000320241"	"COL3A1"
"0000320242"	"COL3A1"
"0000320243"	"COL3A1"
"0000320244"	"COL3A1"
"0000320245"	"COL3A1"
"0000320246"	"COL3A1"
"0000320247"	"COL3A1"
"0000320248"	"COL3A1"
"0000320249"	"COL3A1"
"0000320250"	"COL3A1"
"0000320251"	"COL3A1"
"0000320252"	"COL3A1"
"0000320253"	"COL3A1"
"0000320254"	"COL3A1"
"0000320255"	"COL3A1"
"0000320256"	"COL3A1"
"0000320257"	"COL3A1"
"0000320258"	"COL3A1"
"0000320259"	"COL3A1"
"0000320260"	"COL3A1"
"0000320261"	"COL3A1"
"0000320262"	"COL3A1"
"0000320263"	"COL3A1"
"0000320264"	"COL3A1"
"0000320265"	"COL3A1"
"0000320266"	"COL3A1"
"0000320267"	"COL3A1"
"0000320268"	"COL3A1"
"0000320269"	"COL3A1"
"0000320270"	"COL3A1"
"0000320271"	"COL3A1"
"0000320272"	"COL3A1"
"0000320273"	"COL3A1"
"0000320274"	"COL3A1"
"0000320275"	"COL3A1"
"0000320276"	"COL3A1"
"0000320277"	"COL3A1"
"0000320278"	"COL3A1"
"0000320279"	"COL3A1"
"0000320280"	"COL3A1"
"0000320281"	"COL3A1"
"0000320282"	"COL3A1"
"0000320283"	"COL3A1"
"0000320284"	"COL3A1"
"0000320285"	"COL3A1"
"0000320286"	"COL3A1"
"0000320287"	"COL3A1"
"0000320288"	"COL3A1"
"0000320289"	"COL3A1"
"0000320290"	"COL3A1"
"0000320291"	"COL3A1"
"0000320292"	"COL3A1"
"0000320293"	"COL3A1"
"0000320294"	"COL3A1"
"0000320295"	"COL3A1"
"0000320296"	"COL3A1"
"0000320297"	"COL3A1"
"0000320298"	"COL3A1"
"0000320299"	"COL3A1"
"0000320300"	"COL3A1"
"0000320301"	"COL3A1"
"0000320302"	"COL3A1"
"0000320303"	"COL3A1"
"0000320304"	"COL3A1"
"0000320305"	"COL3A1"
"0000320306"	"COL3A1"
"0000320307"	"COL3A1"
"0000320308"	"COL3A1"
"0000320309"	"COL3A1"
"0000320310"	"COL3A1"
"0000320311"	"COL3A1"
"0000320312"	"COL3A1"
"0000320313"	"COL3A1"
"0000320314"	"COL3A1"
"0000320315"	"COL3A1"
"0000320316"	"COL3A1"
"0000320317"	"COL3A1"
"0000320318"	"COL3A1"
"0000320319"	"COL3A1"
"0000320320"	"COL3A1"
"0000320321"	"COL3A1"
"0000320322"	"COL3A1"
"0000320323"	"COL3A1"
"0000320324"	"COL3A1"
"0000320325"	"COL3A1"
"0000320326"	"COL3A1"
"0000320327"	"COL3A1"
"0000320328"	"COL3A1"
"0000320329"	"COL3A1"
"0000320330"	"COL3A1"
"0000320331"	"COL3A1"
"0000320332"	"COL3A1"
"0000320333"	"COL3A1"
"0000320334"	"COL3A1"
"0000320335"	"COL3A1"
"0000320336"	"COL3A1"
"0000320337"	"COL3A1"
"0000320338"	"COL3A1"
"0000320339"	"COL3A1"
"0000320340"	"COL3A1"
"0000320341"	"COL3A1"
"0000320342"	"COL3A1"
"0000320343"	"COL3A1"
"0000320344"	"COL3A1"
"0000320345"	"COL3A1"
"0000320346"	"COL3A1"
"0000320347"	"COL3A1"
"0000320348"	"COL3A1"
"0000320349"	"COL3A1"
"0000320350"	"COL3A1"
"0000320351"	"COL3A1"
"0000320352"	"COL3A1"
"0000320353"	"COL3A1"
"0000320354"	"COL3A1"
"0000320355"	"COL3A1"
"0000320356"	"COL3A1"
"0000320357"	"COL3A1"
"0000320358"	"COL3A1"
"0000320359"	"COL3A1"
"0000320360"	"COL3A1"
"0000320361"	"COL3A1"
"0000320362"	"COL3A1"
"0000320363"	"COL3A1"
"0000320364"	"COL3A1"
"0000320365"	"COL3A1"
"0000320366"	"COL3A1"
"0000320367"	"COL3A1"
"0000320368"	"COL3A1"
"0000320369"	"COL3A1"
"0000320370"	"COL3A1"
"0000320371"	"COL3A1"
"0000320372"	"COL3A1"
"0000320373"	"COL3A1"
"0000320374"	"COL3A1"
"0000320375"	"COL3A1"
"0000320376"	"COL3A1"
"0000320377"	"COL3A1"
"0000320378"	"COL3A1"
"0000320379"	"COL3A1"
"0000320380"	"COL3A1"
"0000320381"	"COL3A1"
"0000320382"	"COL3A1"
"0000320383"	"COL3A1"
"0000320384"	"COL3A1"
"0000320385"	"COL3A1"
"0000320386"	"COL3A1"
"0000320387"	"COL3A1"
"0000320388"	"COL3A1"
"0000320389"	"COL3A1"
"0000320390"	"COL3A1"
"0000320391"	"COL3A1"
"0000320392"	"COL3A1"
"0000320393"	"COL3A1"
"0000320394"	"COL3A1"
"0000320395"	"COL3A1"
"0000320396"	"COL3A1"
"0000320397"	"COL3A1"
"0000320398"	"COL3A1"
"0000320399"	"COL3A1"
"0000320400"	"COL3A1"
"0000320401"	"COL3A1"
"0000320402"	"COL3A1"
"0000320403"	"COL3A1"
"0000320404"	"COL3A1"
"0000320405"	"COL3A1"
"0000320406"	"COL3A1"
"0000320407"	"COL3A1"
"0000320408"	"COL3A1"
"0000320409"	"COL3A1"
"0000320410"	"COL3A1"
"0000320411"	"COL3A1"
"0000320412"	"COL3A1"
"0000320413"	"COL3A1"
"0000320414"	"COL3A1"
"0000320415"	"COL3A1"
"0000320416"	"COL3A1"
"0000320417"	"COL3A1"
"0000320418"	"COL3A1"
"0000320419"	"COL3A1"
"0000320420"	"COL3A1"
"0000320421"	"COL3A1"
"0000320422"	"COL3A1"
"0000320423"	"COL3A1"
"0000320424"	"COL3A1"
"0000320425"	"COL3A1"
"0000320426"	"COL3A1"
"0000320427"	"COL3A1"
"0000320428"	"COL3A1"
"0000320429"	"COL3A1"
"0000320430"	"COL3A1"
"0000320431"	"COL3A1"
"0000320432"	"COL3A1"
"0000320433"	"COL3A1"
"0000320434"	"COL3A1"
"0000320435"	"COL3A1"
"0000320436"	"COL3A1"
"0000320437"	"COL3A1"
"0000320438"	"COL3A1"
"0000320439"	"COL3A1"
"0000320440"	"COL3A1"
"0000320441"	"COL3A1"
"0000320442"	"COL3A1"
"0000320443"	"COL3A1"
"0000320444"	"COL3A1"
"0000320445"	"COL3A1"
"0000320446"	"COL3A1"
"0000320447"	"COL3A1"
"0000320448"	"COL3A1"
"0000320449"	"COL3A1"
"0000320450"	"COL3A1"
"0000320451"	"COL3A1"
"0000320452"	"COL3A1"
"0000320453"	"COL3A1"
"0000320454"	"COL3A1"
"0000320455"	"COL3A1"
"0000320456"	"COL3A1"
"0000320457"	"COL3A1"
"0000320458"	"COL3A1"
"0000320459"	"COL3A1"
"0000320460"	"COL3A1"
"0000320461"	"COL3A1"
"0000320462"	"COL3A1"
"0000320463"	"COL3A1"
"0000320464"	"COL3A1"
"0000320465"	"COL3A1"
"0000320466"	"COL3A1"
"0000320467"	"COL3A1"
"0000320468"	"COL3A1"
"0000320469"	"COL3A1"
"0000320470"	"COL3A1"
"0000320471"	"COL3A1"
"0000320472"	"COL3A1"
"0000320473"	"COL3A1"
"0000320474"	"COL3A1"
"0000320475"	"COL3A1"
"0000320476"	"COL3A1"
"0000320477"	"COL3A1"
"0000320478"	"COL3A1"
"0000320479"	"COL3A1"
"0000320480"	"COL3A1"
"0000320481"	"COL3A1"
"0000320482"	"COL3A1"
"0000320483"	"COL3A1"
"0000320484"	"COL3A1"
"0000320485"	"COL3A1"
"0000320486"	"COL3A1"
"0000320487"	"COL3A1"
"0000320488"	"COL3A1"
"0000320489"	"COL3A1"
"0000320490"	"COL3A1"
"0000320491"	"COL3A1"
"0000320492"	"COL3A1"
"0000320493"	"COL3A1"
"0000320494"	"COL3A1"
"0000320495"	"COL3A1"
"0000320496"	"COL3A1"
"0000320497"	"COL3A1"
"0000320498"	"COL3A1"
"0000320499"	"COL3A1"
"0000320500"	"COL3A1"
"0000320501"	"COL3A1"
"0000320502"	"COL3A1"
"0000320503"	"COL3A1"
"0000320504"	"COL3A1"
"0000320505"	"COL3A1"
"0000320506"	"COL3A1"
"0000320507"	"COL3A1"
"0000320508"	"COL3A1"
"0000320509"	"COL3A1"
"0000320510"	"COL3A1"
"0000320511"	"COL3A1"
"0000320512"	"COL3A1"
"0000320513"	"COL3A1"
"0000320514"	"COL3A1"
"0000320515"	"COL3A1"
"0000320516"	"COL3A1"
"0000320517"	"COL3A1"
"0000320518"	"COL3A1"
"0000320519"	"COL3A1"
"0000320520"	"COL3A1"
"0000320521"	"COL3A1"
"0000320522"	"COL3A1"
"0000320523"	"COL3A1"
"0000320524"	"COL3A1"
"0000320525"	"COL3A1"
"0000320526"	"COL3A1"
"0000320527"	"COL3A1"
"0000320528"	"COL3A1"
"0000320529"	"COL3A1"
"0000320530"	"COL3A1"
"0000320531"	"COL3A1"
"0000320532"	"COL3A1"
"0000320533"	"COL3A1"
"0000320534"	"COL3A1"
"0000320535"	"COL3A1"
"0000320536"	"COL3A1"
"0000320537"	"COL3A1"
"0000320538"	"COL3A1"
"0000320539"	"COL3A1"
"0000320540"	"COL3A1"
"0000320541"	"COL3A1"
"0000320542"	"COL3A1"
"0000320543"	"COL3A1"
"0000320544"	"COL3A1"
"0000320545"	"COL3A1"
"0000320546"	"COL3A1"
"0000320547"	"COL3A1"
"0000320548"	"COL3A1"
"0000320549"	"COL3A1"
"0000320550"	"COL3A1"
"0000320551"	"COL3A1"
"0000320552"	"COL3A1"
"0000320553"	"COL3A1"
"0000320554"	"COL3A1"
"0000320555"	"COL3A1"
"0000320556"	"COL3A1"
"0000320557"	"COL3A1"
"0000320558"	"COL3A1"
"0000320559"	"COL3A1"
"0000320560"	"COL3A1"
"0000320561"	"COL3A1"
"0000320562"	"COL3A1"
"0000320563"	"COL3A1"
"0000320564"	"COL3A1"
"0000320565"	"COL3A1"
"0000320566"	"COL3A1"
"0000320567"	"COL3A1"
"0000378305"	"COL3A1"
"0000378365"	"COL3A1"
"0000389497"	"COL3A1"
"0000399308"	"COL3A1"
"0000399373"	"COL3A1"
"0000399373"	"MYLK"
"0000403984"	"COL3A1"
"0000406025"	"COL3A1"
"0000407695"	"COL3A1"
"0000411273"	"COL3A1"
"0000412401"	"AEBP1"
"0000412401"	"COL3A1"
"0000412401"	"COL5A1"
"0000412401"	"COL5A2"
"0000412461"	"COL3A1"
"0000412461"	"COL5A1"
"0000412720"	"COL3A1"
"0000412720"	"COL5A1"
"0000412720"	"COL5A2"
"0000412721"	"COL3A1"
"0000412722"	"COL3A1"
"0000412723"	"COL3A1"
"0000412724"	"COL3A1"
"0000413264"	"COL3A1"
"0000413265"	"COL3A1"
"0000414063"	"COL3A1"
"0000414064"	"COL3A1"
"0000414065"	"COL3A1"
"0000414066"	"COL3A1"
"0000414067"	"COL3A1"
"0000414510"	"COL3A1"
"0000415982"	"COL3A1"
"0000415983"	"COL3A1"
"0000415983"	"FBN1"
"0000417098"	"COL3A1"
"0000417099"	"COL3A1"
"0000420510"	"COL3A1"
"0000420511"	"COL3A1"
"0000420512"	"COL3A1"
"0000420513"	"COL3A1"
"0000425850"	"COL3A1"
"0000425851"	"COL3A1"
"0000425852"	"COL3A1"
"0000425853"	"COL3A1"
"0000425854"	"COL3A1"
"0000425855"	"COL3A1"
"0000425856"	"COL3A1"
"0000425857"	"COL3A1"
"0000425858"	"COL3A1"
"0000425859"	"COL3A1"
"0000425860"	"COL3A1"
"0000425861"	"COL3A1"
"0000425862"	"COL3A1"
"0000425863"	"COL3A1"
"0000425864"	"COL3A1"
"0000425865"	"COL3A1"
"0000425866"	"COL3A1"
"0000425867"	"COL3A1"
"0000425869"	"COL3A1"
"0000425870"	"COL3A1"
"0000425871"	"COL3A1"
"0000425872"	"COL3A1"
"0000425875"	"COL3A1"
"0000426105"	"COL3A1"
"0000426106"	"COL3A1"
"0000426107"	"COL3A1"
"0000426108"	"COL3A1"
"0000426109"	"COL3A1"
"0000426110"	"COL3A1"
"0000426111"	"COL3A1"
"0000426112"	"COL3A1"
"0000426227"	"COL3A1"
"0000426271"	"COL3A1"
"0000431681"	"COL3A1"
"0000431683"	"COL3A1"
"0000431684"	"COL3A1"
"0000431686"	"COL3A1"
"0000431709"	"COL3A1"
"0000431711"	"COL3A1"
"0000431712"	"COL3A1"
"0000431713"	"COL3A1"
"0000431714"	"COL3A1"
"0000431716"	"COL3A1"
"0000431718"	"COL3A1"
"0000431719"	"COL3A1"
"0000431720"	"COL3A1"
"0000431721"	"COL3A1"
"0000431722"	"COL3A1"
"0000431723"	"COL3A1"
"0000431724"	"COL3A1"
"0000431725"	"COL3A1"
"0000431726"	"COL3A1"
"0000431727"	"COL3A1"
"0000431728"	"COL3A1"
"0000431729"	"COL3A1"
"0000431730"	"COL3A1"
"0000431731"	"COL3A1"
"0000431732"	"COL3A1"
"0000431733"	"COL3A1"
"0000431734"	"COL3A1"
"0000431735"	"COL3A1"
"0000431736"	"COL3A1"
"0000431737"	"COL3A1"
"0000431738"	"COL3A1"
"0000431739"	"COL3A1"
"0000431740"	"COL3A1"
"0000431741"	"COL3A1"
"0000431742"	"COL3A1"
"0000431743"	"COL3A1"
"0000431744"	"COL3A1"
"0000431745"	"COL3A1"
"0000431746"	"COL3A1"
"0000431747"	"COL3A1"
"0000432130"	"COL3A1"
"0000433009"	"COL3A1"
"0000433010"	"COL3A1"
"0000433011"	"COL3A1"
"0000433012"	"COL3A1"
"0000433013"	"COL3A1"
"0000433014"	"COL3A1"
"0000433015"	"COL3A1"
"0000433016"	"COL3A1"
"0000433017"	"COL3A1"
"0000433018"	"COL3A1"
"0000433019"	"COL3A1"
"0000433020"	"COL3A1"
"0000433021"	"COL3A1"
"0000433022"	"COL3A1"
"0000433023"	"COL3A1"
"0000433024"	"COL3A1"
"0000433025"	"COL3A1"
"0000433026"	"COL3A1"
"0000433027"	"COL3A1"
"0000433028"	"COL3A1"
"0000433029"	"COL3A1"
"0000433030"	"COL3A1"
"0000433031"	"COL3A1"
"0000433032"	"COL3A1"
"0000433033"	"COL3A1"
"0000433034"	"COL3A1"
"0000433035"	"COL3A1"
"0000433036"	"COL3A1"
"0000433037"	"COL3A1"
"0000433038"	"COL3A1"
"0000433039"	"COL3A1"
"0000433040"	"COL3A1"
"0000433041"	"COL3A1"
"0000433042"	"COL3A1"
"0000433043"	"COL3A1"
"0000433044"	"COL3A1"
"0000433045"	"COL3A1"
"0000433046"	"COL3A1"
"0000433047"	"COL3A1"
"0000433048"	"COL3A1"
"0000433049"	"COL3A1"
"0000433050"	"COL3A1"
"0000433051"	"COL3A1"
"0000433052"	"COL3A1"
"0000433053"	"COL3A1"
"0000433054"	"COL3A1"
"0000433055"	"COL3A1"
"0000433056"	"COL3A1"
"0000433057"	"COL3A1"
"0000433058"	"COL3A1"
"0000433059"	"COL3A1"
"0000433060"	"COL3A1"
"0000433061"	"COL3A1"
"0000433062"	"COL3A1"
"0000433063"	"COL3A1"
"0000433064"	"COL3A1"
"0000450121"	"COL3A1"
"0000454545"	"COL3A1"
"0000456422"	"COL3A1"
"0000456543"	"COL3A1"
"0000456952"	"COL3A1"
"0000456953"	"COL3A1"
"0000456954"	"COL3A1"
"0000456955"	"COL3A1"
"0000456956"	"COL3A1"
"0000456957"	"COL3A1"
"0000456958"	"COL3A1"
"0000456976"	"COL3A1"
"0000456977"	"COL3A1"
"0000456979"	"COL3A1"
"0000456982"	"COL3A1"
"0000456984"	"COL3A1"
"0000456986"	"COL3A1"
"0000456988"	"COL3A1"
"0000456990"	"COL3A1"
"0000456991"	"COL3A1"
"0000457070"	"COL3A1"
"0000457071"	"COL3A1"
"0000457072"	"COL3A1"
"0000457073"	"COL3A1"
"0000457074"	"COL3A1"
"0000457075"	"COL3A1"
"0000457076"	"COL3A1"
"0000457077"	"COL3A1"
"0000459735"	"COL3A1"
"0000459736"	"COL3A1"
"0000459737"	"COL3A1"
"0000459738"	"COL3A1"
"0000459739"	"COL3A1"
"0000459740"	"COL3A1"
"0000459741"	"COL3A1"
"0000459742"	"COL3A1"
"0000459743"	"COL3A1"
"0000459744"	"COL3A1"
"0000459745"	"COL3A1"
"0000459746"	"COL3A1"
"0000459747"	"COL3A1"
"0000459748"	"COL3A1"
"0000459749"	"COL3A1"
"0000459750"	"COL3A1"
"0000459751"	"COL3A1"
"0000459752"	"COL3A1"
"0000459753"	"COL3A1"
"0000459754"	"COL3A1"
"0000459755"	"COL3A1"
"0000459766"	"COL3A1"
"0000459767"	"COL3A1"
"0000459768"	"COL3A1"
"0000459772"	"COL3A1"
"0000459774"	"COL3A1"
"0000459775"	"COL3A1"
"0000459787"	"COL3A1"
"0000459788"	"COL3A1"
"0000462681"	"COL3A1"
"0000462688"	"COL3A1"


## 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 = 1810
"{{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}}"
"0000079628"	"0"	"90"	"2"	"189873948"	"189873948"	"subst"	"0"	"00006"	"COL3A1_000814"	"g.189873948G>A"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"splice variant"	"De novo"	""	""	"0"	""	""	"g.189009222G>A"	""	"pathogenic"	""
"0000130533"	"0"	"70"	"2"	"189855042"	"189855042"	"subst"	"0"	"01741"	"COL3A1_000815"	"g.189855042G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188990316G>A"	""	"likely pathogenic"	""
"0000169355"	"0"	"70"	"2"	"189849623"	"189849623"	"subst"	"0.000138519"	"00587"	"COL3A1_000816"	"g.189849623G>C"	""	"{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}"	""	"NM_000090.3(COL3A1):c.217G>C p.(Asp73His)"	"variant could not be associated with disease phenotype"	"Germline"	""	""	"0"	""	""	"g.188984897G>C"	""	"likely pathogenic"	""
"0000249968"	"0"	"30"	"2"	"189862100"	"189862100"	"subst"	"0.000101573"	"02329"	"COL3A1_000871"	"g.189862100A>T"	""	""	""	"COL3A1(NM_000090.3):c.1854A>T (p.G618=), COL3A1(NM_000090.4):c.1854A>T (p.G618=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188997374A>T"	""	"likely benign"	""
"0000250138"	"0"	"10"	"2"	"189873737"	"189873737"	"subst"	"0.00430632"	"02329"	"COL3A1_000181"	"g.189873737A>G"	""	""	""	"COL3A1(NM_000090.3):c.3613A>G (p.I1205V), COL3A1(NM_000090.4):c.3613A>G (p.I1205V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189009011A>G"	""	"benign"	""
"0000250190"	"0"	"10"	"2"	"189861962"	"189861962"	"subst"	"0.0305414"	"02329"	"COL3A1_000845"	"g.189861962A>G"	""	""	""	"COL3A1(NM_000090.4):c.1815+18A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188997236A>G"	""	"benign"	""
"0000252061"	"0"	"30"	"2"	"189859830"	"189859830"	"subst"	"0.000117841"	"02326"	"COL3A1_000841"	"g.189859830A>G"	""	""	""	"COL3A1(NM_000090.3):c.1509+5A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188995104A>G"	""	"likely benign"	""
"0000252754"	"0"	"50"	"2"	"189858779"	"189858779"	"subst"	"0.000101557"	"02326"	"COL3A1_000592"	"g.189858779A>T"	""	""	""	"COL3A1(NM_000090.3):c.1165A>T (p.N389Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188994053A>T"	""	"VUS"	""
"0000254059"	"0"	"30"	"2"	"189862100"	"189862100"	"subst"	"0.000101573"	"01943"	"COL3A1_000871"	"g.189862100A>T"	""	""	""	"COL3A1(NM_000090.3):c.1854A>T (p.G618=), COL3A1(NM_000090.4):c.1854A>T (p.G618=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188997374A>T"	""	"likely benign"	""
"0000254370"	"0"	"30"	"2"	"189849493"	"189849493"	"subst"	"8.14219E-6"	"01943"	"COL3A1_000819"	"g.189849493A>C"	""	""	""	"COL3A1(NM_000090.3):c.87A>C (p.E29D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188984767A>C"	""	"likely benign"	""
"0000254429"	"0"	"30"	"2"	"189856433"	"189856433"	"subst"	"0"	"01943"	"COL3A1_000828"	"g.189856433A>G"	""	""	""	"COL3A1(NM_000090.3):c.936A>G (p.G312=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188991707A>G"	""	"likely benign"	""
"0000254441"	"0"	"30"	"2"	"189864040"	"189864040"	"subst"	"0"	"01943"	"COL3A1_000853"	"g.189864040A>G"	""	""	""	"COL3A1(NM_000090.3):c.2052A>G (p.G684=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188999314A>G"	""	"likely benign"	""
"0000254953"	"0"	"30"	"2"	"189864073"	"189864073"	"subst"	"0"	"01943"	"COL3A1_000872"	"g.189864073A>G"	""	""	""	"COL3A1(NM_000090.3):c.2085A>G (p.R695=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188999347A>G"	""	"likely benign"	""
"0000256696"	"0"	"50"	"2"	"189856381"	"189856381"	"subst"	"1.21904E-5"	"01943"	"COL3A1_000826"	"g.189856381A>G"	""	""	""	"COL3A1(NM_000090.3):c.898-14A>G, COL3A1(NM_000090.4):c.898-14A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188991655A>G"	""	"VUS"	""
"0000266943"	"0"	"10"	"2"	"189863389"	"189863389"	"subst"	"0.26362"	"02325"	"COL3A1_000850"	"g.189863389C>T"	""	""	""	"COL3A1(NM_000090.3):c.1978-11C>T, COL3A1(NM_000090.4):c.1978-11C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188998663C>T"	""	"benign"	""
"0000266944"	"0"	"10"	"2"	"189875421"	"189875421"	"subst"	"0.998805"	"02325"	"COL3A1_000182"	"g.189875421T>G"	""	""	""	"COL3A1(NM_000090.4):c.4059T>G (p.H1353Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"benign"	""
"0000268339"	"0"	"30"	"2"	"189849520"	"189849520"	"subst"	"0.000329657"	"02329"	"COL3A1_000820"	"g.189849520C>G"	""	""	""	"COL3A1(NM_000090.3):c.114C>G (p.S38=), COL3A1(NM_000090.4):c.114C>G (p.S38=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188984794C>G"	""	"likely benign"	""
"0000268340"	"0"	"90"	"2"	"189858961"	"189858961"	"subst"	"0"	"02329"	"COL3A1_000834"	"g.189858961G>A"	""	""	""	"COL3A1(NM_000090.4):c.1196G>A (p.G399D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188994235G>A"	""	"pathogenic"	""
"0000268341"	"0"	"10"	"2"	"189859022"	"189859022"	"subst"	"0.0043169"	"02329"	"COL3A1_000184"	"g.189859022C>T"	""	""	""	"COL3A1(NM_000090.4):c.1257C>T (p.A419=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188994296C>T"	""	"benign"	""
"0000268342"	"0"	"10"	"2"	"189859073"	"189859073"	"subst"	"0.0555176"	"02329"	"COL3A1_000836"	"g.189859073T>A"	""	""	""	"COL3A1(NM_000090.3):c.1293+15T>A, COL3A1(NM_000090.4):c.1293+15T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188994347T>A"	""	"benign"	""
"0000268343"	"0"	"10"	"2"	"189859446"	"189859446"	"del"	"0"	"02329"	"COL3A1_000837"	"g.189859446del"	""	""	""	"COL3A1(NM_000090.3):c.1348-4delT, COL3A1(NM_000090.4):c.1348-4delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188994720del"	""	"benign"	""
"0000268344"	"0"	"50"	"2"	"189859552"	"189859552"	"subst"	"0"	"02329"	"COL3A1_000840"	"g.189859552G>A"	""	""	""	"COL3A1(NM_000090.4):c.1450G>A (p.E484K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188994826G>A"	""	"VUS"	""
"0000268345"	"0"	"10"	"2"	"189860901"	"189860901"	"subst"	"0.000918206"	"02329"	"COL3A1_000185"	"g.189860901T>A"	""	""	""	"COL3A1(NM_000090.3):c.1659T>A (p.P553=), COL3A1(NM_000090.4):c.1659T>A (p.P553=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188996175T>A"	""	"benign"	""
"0000268346"	"0"	"10"	"2"	"189861899"	"189861899"	"subst"	"0.00294211"	"02329"	"COL3A1_000843"	"g.189861899T>C"	""	""	""	"COL3A1(NM_000090.4):c.1770T>C (p.P590=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188997173T>C"	""	"benign"	""
"0000268347"	"0"	"10"	"2"	"189862048"	"189862048"	"subst"	"0.122909"	"02329"	"COL3A1_000847"	"g.189862048G>C"	""	""	""	"COL3A1(NM_000090.3):c.1816-14G>C, COL3A1(NM_000090.4):c.1816-14G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188997322G>C"	""	"benign"	""
"0000268348"	"0"	"10"	"2"	"189862043"	"189862043"	"subst"	"0.00743194"	"02329"	"COL3A1_000846"	"g.189862043T>C"	""	""	""	"COL3A1(NM_000090.4):c.1816-19T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188997317T>C"	""	"benign"	""
"0000268349"	"0"	"10"	"2"	"189862097"	"189862097"	"subst"	"0.122556"	"02329"	"COL3A1_000198"	"g.189862097G>A"	""	""	""	"COL3A1(NM_000090.3):c.1851G>A (p.Q617=), COL3A1(NM_000090.4):c.1851G>A (p.Q617=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188997371G>A"	""	"benign"	""
"0000268350"	"0"	"30"	"2"	"189849592"	"189849592"	"subst"	"3.25847E-5"	"02329"	"COL3A1_000821"	"g.189849592C>T"	""	""	""	"COL3A1(NM_000090.3):c.186C>T (p.C62=), COL3A1(NM_000090.4):c.186C>T (p.C62=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188984866C>T"	""	"likely benign"	""
"0000268351"	"0"	"90"	"2"	"189862426"	"189862426"	"subst"	"0"	"02329"	"COL3A1_000848"	"g.189862426G>T"	""	""	""	"COL3A1(NM_000090.4):c.1870G>T (p.G624W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188997700G>T"	""	"pathogenic"	""
"0000268352"	"0"	"10"	"2"	"189862995"	"189862995"	"subst"	"0.00246586"	"02329"	"COL3A1_000186"	"g.189862995T>C"	""	""	""	"COL3A1(NM_000090.3):c.1927T>C (p.L643=), COL3A1(NM_000090.4):c.1927T>C (p.L643=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188998269T>C"	""	"benign"	""
"0000268353"	"0"	"10"	"2"	"189863389"	"189863389"	"subst"	"0.26362"	"02329"	"COL3A1_000850"	"g.189863389C>T"	""	""	""	"COL3A1(NM_000090.3):c.1978-11C>T, COL3A1(NM_000090.4):c.1978-11C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188998663C>T"	""	"benign"	""
"0000268354"	"0"	"10"	"2"	"189863424"	"189863424"	"subst"	"0.000317132"	"02329"	"COL3A1_000851"	"g.189863424C>T"	""	""	""	"COL3A1(NM_000090.3):c.2002C>T (p.(Pro668Ser)), COL3A1(NM_000090.4):c.2002C>T (p.P668S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188998698C>T"	""	"benign"	""
"0000268355"	"0"	"10"	"2"	"189863449"	"189863449"	"subst"	"0.000931811"	"02329"	"COL3A1_000852"	"g.189863449T>C"	""	""	""	"COL3A1(NM_000090.3):c.2022+5T>C, COL3A1(NM_000090.4):c.2022+5T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188998723T>C"	""	"benign"	""
"0000268356"	"0"	"30"	"2"	"189864207"	"189864207"	"subst"	"0"	"02329"	"COL3A1_000854"	"g.189864207T>G"	""	""	""	"COL3A1(NM_000090.4):c.2133T>G (p.G711=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188999481T>G"	""	"likely benign"	""
"0000268357"	"0"	"10"	"2"	"189864582"	"189864582"	"subst"	"0.233858"	"02329"	"COL3A1_000138"	"g.189864582T>C"	""	""	""	"COL3A1(NM_000090.3):c.2244T>C (p.G748=), COL3A1(NM_000090.4):c.2244T>C (p.G748=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188999856T>C"	""	"benign"	""
"0000268358"	"0"	"30"	"2"	"189868758"	"189868758"	"subst"	"7.34065E-5"	"02329"	"COL3A1_000859"	"g.189868758C>T"	""	""	""	"COL3A1(NM_000090.4):c.2712C>T (p.P904=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189004032C>T"	""	"likely benign"	""
"0000268359"	"0"	"90"	"2"	"189869028"	"189869028"	"subst"	"0"	"02329"	"COL3A1_000085"	"g.189869028G>A"	""	""	""	"COL3A1(NM_000090.4):c.2869G>A (p.G957S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189004302G>A"	""	"pathogenic"	""
"0000268360"	"0"	"10"	"2"	"189870199"	"189870199"	"subst"	"0.00108132"	"02329"	"COL3A1_000862"	"g.189870199T>G"	""	""	""	"COL3A1(NM_000090.3):c.3039+16T>G, COL3A1(NM_000090.4):c.3039+16T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189005473T>G"	""	"benign"	""
"0000268361"	"0"	"90"	"2"	"189871134"	"189871134"	"subst"	"0"	"02329"	"COL3A1_000864"	"g.189871134G>A"	""	""	""	"COL3A1(NM_000090.4):c.3157G>A (p.G1053S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189006408G>A"	""	"pathogenic"	""
"0000268362"	"0"	"30"	"2"	"189872603"	"189872603"	"subst"	"6.9072E-5"	"02329"	"COL3A1_000867"	"g.189872603C>T"	""	""	""	"COL3A1(NM_000090.3):c.3364-8C>T, COL3A1(NM_000090.4):c.3364-8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189007877C>T"	""	"likely benign"	""
"0000268363"	"0"	"90"	"2"	"189872789"	"189872789"	"subst"	"0"	"02329"	"COL3A1_000612"	"g.189872789G>A"	""	""	""	"COL3A1(NM_000090.4):c.3446G>A (p.G1149D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189008063G>A"	""	"pathogenic"	""
"0000268364"	"0"	"10"	"2"	"189873778"	"189873778"	"subst"	"0.00102785"	"02329"	"COL3A1_000189"	"g.189873778G>T"	""	""	""	"COL3A1(NM_000090.3):c.3654G>T (p.P1218=), COL3A1(NM_000090.4):c.3654G>T (p.P1218=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189009052G>T"	""	"benign"	""
"0000268365"	"0"	"30"	"2"	"189873901"	"189873901"	"subst"	"0.000557423"	"02329"	"COL3A1_000207"	"g.189873901T>C"	""	""	""	"COL3A1(NM_000090.3):c.3777T>C (p.A1259=), COL3A1(NM_000090.4):c.3777T>C (p.A1259=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189009175T>C"	""	"likely benign"	""
"0000268366"	"0"	"10"	"2"	"189875421"	"189875421"	"subst"	"0.998805"	"02329"	"COL3A1_000182"	"g.189875421T>G"	""	""	""	"COL3A1(NM_000090.4):c.4059T>G (p.H1353Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"benign"	""
"0000268367"	"0"	"30"	"2"	"189875538"	"189875538"	"subst"	"2.43787E-5"	"02329"	"COL3A1_000869"	"g.189875538G>A"	""	""	""	"COL3A1(NM_000090.3):c.4176G>A (p.L1392=), COL3A1(NM_000090.4):c.4176G>A (p.L1392=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189010812G>A"	""	"likely benign"	""
"0000268368"	"0"	"90"	"2"	"189852826"	"189852826"	"subst"	"0"	"02329"	"COL3A1_000001"	"g.189852826G>A"	""	""	""	"COL3A1(NM_000090.4):c.548G>A (p.G183D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188988100G>A"	""	"pathogenic"	""
"0000268369"	"0"	"10"	"2"	"189849470"	"189849470"	"subst"	"0.00213527"	"02329"	"COL3A1_000818"	"g.189849470C>T"	""	""	""	"COL3A1(NM_000090.3):c.80-16C>T, COL3A1(NM_000090.4):c.80-16C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188984744C>T"	""	"benign"	""
"0000268370"	"0"	"30"	"2"	"189855743"	"189855743"	"subst"	"0.00134179"	"02329"	"COL3A1_000230"	"g.189855743G>A"	""	""	""	"COL3A1(NM_000090.3):c.812G>A (p.R271Q, p.(Arg271Gln)), COL3A1(NM_000090.4):c.812G>A (p.R271Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188991017G>A"	""	"likely benign"	""
"0000268371"	"0"	"90"	"2"	"189856453"	"189856453"	"subst"	"0"	"02329"	"COL3A1_000829"	"g.189856453G>T"	""	""	""	"COL3A1(NM_000090.4):c.951+5G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188991727G>T"	""	"pathogenic"	""
"0000268372"	"0"	"90"	"2"	"189856929"	"189856929"	"subst"	"0"	"02329"	"COL3A1_000650"	"g.189856929G>A"	""	""	""	"COL3A1(NM_000090.4):c.971G>A (p.G324D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188992203G>A"	""	"pathogenic"	""
"0000270366"	"0"	"90"	"2"	"189857650"	"189857650"	"subst"	"0"	"02326"	"COL3A1_000831"	"g.189857650G>A"	""	""	""	"COL3A1(NM_000090.3):c.1034G>A (p.G345E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188992924G>A"	""	"pathogenic"	""
"0000270367"	"0"	"30"	"2"	"189859446"	"189859446"	"del"	"0"	"02326"	"COL3A1_000837"	"g.189859446del"	""	""	""	"COL3A1(NM_000090.3):c.1348-4delT, COL3A1(NM_000090.4):c.1348-4delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188994720del"	""	"likely benign"	""
"0000270369"	"0"	"30"	"2"	"189859445"	"189859445"	"subst"	"0"	"02326"	"COL3A1_000839"	"g.189859445T>C"	""	""	""	"COL3A1(NM_000090.3):c.1348-5T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188994719T>C"	""	"likely benign"	""
"0000270370"	"0"	"30"	"2"	"189861204"	"189861204"	"subst"	"3.65895E-5"	"02326"	"COL3A1_000842"	"g.189861204C>T"	""	""	""	"COL3A1(NM_000090.3):c.1743C>T (p.P581=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188996478C>T"	""	"likely benign"	""
"0000270371"	"0"	"50"	"2"	"189861916"	"189861916"	"subst"	"0"	"02326"	"COL3A1_000844"	"g.189861916G>C"	""	""	""	"COL3A1(NM_000090.3):c.1787G>C (p.R596P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188997190G>C"	""	"VUS"	""
"0000270372"	"0"	"30"	"2"	"189861933"	"189861933"	"subst"	"0.00451226"	"02326"	"COL3A1_000197"	"g.189861933C>A"	""	""	""	"COL3A1(NM_000090.3):c.1804C>A (p.P602T), COL3A1(NM_000090.4):c.1804C>A (p.P602T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188997207C>A"	""	"likely benign"	""
"0000270373"	"0"	"30"	"2"	"189849592"	"189849592"	"subst"	"3.25847E-5"	"02326"	"COL3A1_000821"	"g.189849592C>T"	""	""	""	"COL3A1(NM_000090.3):c.186C>T (p.C62=), COL3A1(NM_000090.4):c.186C>T (p.C62=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188984866C>T"	""	"likely benign"	""
"0000270374"	"0"	"70"	"2"	"189862460"	"189862460"	"subst"	"8.13306E-6"	"02326"	"COL3A1_000849"	"g.189862460C>T"	""	""	""	"COL3A1(NM_000090.3):c.1904C>T (p.P635L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188997734C>T"	""	"likely pathogenic"	""
"0000270375"	"0"	"10"	"2"	"189863449"	"189863449"	"subst"	"0.000931811"	"02326"	"COL3A1_000852"	"g.189863449T>C"	""	""	""	"COL3A1(NM_000090.3):c.2022+5T>C, COL3A1(NM_000090.4):c.2022+5T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188998723T>C"	""	"benign"	""
"0000270376"	"0"	"10"	"2"	"189864023"	"189864023"	"subst"	"0.00552585"	"02326"	"COL3A1_000187"	"g.189864023G>A"	""	""	""	"COL3A1(NM_000090.3):c.2035G>A (p.A679T), COL3A1(NM_000090.4):c.2035G>A (p.A679T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188999297G>A"	""	"benign"	""
"0000270377"	"0"	"30"	"2"	"189868746"	"189868746"	"subst"	"0.000469303"	"02326"	"COL3A1_000858"	"g.189868746C>T"	""	""	""	"COL3A1(NM_000090.3):c.2700C>T (p.G900=), COL3A1(NM_000090.4):c.2700C>T (p.G900=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189004020C>T"	""	"likely benign"	""
"0000270378"	"0"	"30"	"2"	"189868977"	"189868977"	"subst"	"0"	"02326"	"COL3A1_000860"	"g.189868977T>C"	""	""	""	"COL3A1(NM_000090.3):c.2824-6T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189004251T>C"	""	"likely benign"	""
"0000270379"	"0"	"10"	"2"	"189872198"	"189872198"	"subst"	"0.00541106"	"02326"	"COL3A1_000866"	"g.189872198G>A"	""	""	""	"COL3A1(NM_000090.3):c.3256-28G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189007472G>A"	""	"benign"	""
"0000270380"	"0"	"30"	"2"	"189854144"	"189854144"	"subst"	"0"	"02326"	"COL3A1_000825"	"g.189854144C>T"	""	""	""	"COL3A1(NM_000090.3):c.659C>T (p.A220V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188989418C>T"	""	"likely benign"	""
"0000270381"	"0"	"30"	"2"	"189855743"	"189855743"	"subst"	"0.00134179"	"02326"	"COL3A1_000230"	"g.189855743G>A"	""	""	""	"COL3A1(NM_000090.3):c.812G>A (p.R271Q, p.(Arg271Gln)), COL3A1(NM_000090.4):c.812G>A (p.R271Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188991017G>A"	""	"likely benign"	""
"0000270382"	"0"	"70"	"2"	"189856938"	"189856938"	"subst"	"0"	"02326"	"COL3A1_000025"	"g.189856938G>A"	""	""	""	"COL3A1(NM_000090.3):c.980G>A (p.G327D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188992212G>A"	""	"likely pathogenic"	""
"0000273975"	"0"	"30"	"2"	"189849520"	"189849520"	"subst"	"0.000329657"	"01943"	"COL3A1_000820"	"g.189849520C>G"	""	""	""	"COL3A1(NM_000090.3):c.114C>G (p.S38=), COL3A1(NM_000090.4):c.114C>G (p.S38=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188984794C>G"	""	"likely benign"	""
"0000273976"	"0"	"90"	"2"	"189858791"	"189858791"	"subst"	"0"	"01943"	"COL3A1_000832"	"g.189858791G>C"	""	""	""	"COL3A1(NM_000090.3):c.1177G>C (p.G393R), COL3A1(NM_000090.4):c.1177G>C (p.G393R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188994065G>C"	""	"pathogenic"	""
"0000273977"	"0"	"30"	"2"	"189858802"	"189858802"	"subst"	"0.000117783"	"01943"	"COL3A1_000833"	"g.189858802C>T"	""	""	""	"COL3A1(NM_000090.3):c.1188C>T (p.G396=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188994076C>T"	""	"likely benign"	""
"0000273978"	"0"	"30"	"2"	"189858965"	"189858965"	"subst"	"4.47184E-5"	"01943"	"COL3A1_000835"	"g.189858965C>T"	""	""	""	"COL3A1(NM_000090.3):c.1200C>T (p.P400=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188994239C>T"	""	"likely benign"	""
"0000273979"	"0"	"10"	"2"	"189859073"	"189859073"	"subst"	"0.0555176"	"01943"	"COL3A1_000836"	"g.189859073T>A"	""	""	""	"COL3A1(NM_000090.3):c.1293+15T>A, COL3A1(NM_000090.4):c.1293+15T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188994347T>A"	""	"benign"	""
"0000273980"	"0"	"90"	"2"	"189859787"	"189859787"	"subst"	"0"	"01943"	"COL3A1_000639"	"g.189859787C>T"	""	""	""	"COL3A1(NM_000090.3):c.1471C>T (p.R491*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188995061C>T"	""	"pathogenic"	""
"0000273981"	"0"	"50"	"2"	"189860458"	"189860458"	"subst"	"0.00017034"	"01943"	"COL3A1_000269"	"g.189860458C>T"	""	""	""	"COL3A1(NM_000090.3):c.1550C>T (p.P517L), COL3A1(NM_000090.4):c.1550C>T (p.P517L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188995732C>T"	""	"VUS"	""
"0000273982"	"0"	"10"	"2"	"189861933"	"189861933"	"subst"	"0.00451226"	"01943"	"COL3A1_000197"	"g.189861933C>A"	""	""	""	"COL3A1(NM_000090.3):c.1804C>A (p.P602T), COL3A1(NM_000090.4):c.1804C>A (p.P602T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188997207C>A"	""	"benign"	""
"0000273983"	"0"	"10"	"2"	"189862048"	"189862048"	"subst"	"0.122909"	"01943"	"COL3A1_000847"	"g.189862048G>C"	""	""	""	"COL3A1(NM_000090.3):c.1816-14G>C, COL3A1(NM_000090.4):c.1816-14G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188997322G>C"	""	"benign"	""
"0000273984"	"0"	"10"	"2"	"189862097"	"189862097"	"subst"	"0.122556"	"01943"	"COL3A1_000198"	"g.189862097G>A"	""	""	""	"COL3A1(NM_000090.3):c.1851G>A (p.Q617=), COL3A1(NM_000090.4):c.1851G>A (p.Q617=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188997371G>A"	""	"benign"	""
"0000273985"	"0"	"10"	"2"	"189863389"	"189863389"	"subst"	"0.26362"	"01943"	"COL3A1_000850"	"g.189863389C>T"	""	""	""	"COL3A1(NM_000090.3):c.1978-11C>T, COL3A1(NM_000090.4):c.1978-11C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188998663C>T"	""	"benign"	""
"0000273986"	"0"	"10"	"2"	"189864023"	"189864023"	"subst"	"0.00552585"	"01943"	"COL3A1_000187"	"g.189864023G>A"	""	""	""	"COL3A1(NM_000090.3):c.2035G>A (p.A679T), COL3A1(NM_000090.4):c.2035G>A (p.A679T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188999297G>A"	""	"benign"	""
"0000273987"	"0"	"30"	"2"	"189864044"	"189864044"	"subst"	"0.000342663"	"01943"	"COL3A1_000201"	"g.189864044C>G"	""	""	""	"COL3A1(NM_000090.3):c.2056C>G (p.P686A), COL3A1(NM_000090.4):c.2056C>G (p.P686A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188999318C>G"	""	"likely benign"	""
"0000273988"	"0"	"50"	"2"	"189849623"	"189849623"	"subst"	"0.000138519"	"01943"	"COL3A1_000816"	"g.189849623G>C"	""	""	""	"COL3A1(NM_000090.3):c.217G>C (p.D73H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188984897G>C"	""	"VUS"	""
"0000273989"	"0"	"10"	"2"	"189864582"	"189864582"	"subst"	"0.233858"	"01943"	"COL3A1_000138"	"g.189864582T>C"	""	""	""	"COL3A1(NM_000090.3):c.2244T>C (p.G748=), COL3A1(NM_000090.4):c.2244T>C (p.G748=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188999856T>C"	""	"benign"	""
"0000273990"	"0"	"30"	"2"	"189867725"	"189867725"	"subst"	"2.00973E-5"	"01943"	"COL3A1_000855"	"g.189867725G>A"	""	""	""	"COL3A1(NM_000090.3):c.2490G>A (p.P830=), COL3A1(NM_000090.4):c.2490G>A (p.P830=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189002999G>A"	""	"likely benign"	""
"0000273991"	"0"	"10"	"2"	"189868535"	"189868535"	"subst"	"0"	"01943"	"COL3A1_000856"	"g.189868535T>C"	""	""	""	"COL3A1(NM_000090.3):c.2661+22T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189003809T>C"	""	"benign"	""
"0000273992"	"0"	"90"	"2"	"189868735"	"189868735"	"subst"	"4.08814E-6"	"01943"	"COL3A1_000857"	"g.189868735G>A"	""	""	""	"COL3A1(NM_000090.3):c.2689G>A (p.G897S), COL3A1(NM_000090.4):c.2689G>A (p.G897S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189004009G>A"	""	"pathogenic"	""
"0000273993"	"0"	"30"	"2"	"189870102"	"189870102"	"subst"	"8.12308E-5"	"01943"	"COL3A1_000188"	"g.189870102C>T"	""	""	""	"COL3A1(NM_000090.3):c.2958C>T (p.N986=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189005376C>T"	""	"likely benign"	""
"0000273994"	"0"	"50"	"2"	"189871095"	"189871095"	"subst"	"0"	"01943"	"COL3A1_000863"	"g.189871095C>T"	""	""	""	"COL3A1(NM_000090.3):c.3118C>T (p.P1040S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189006369C>T"	""	"VUS"	""
"0000273995"	"0"	"90"	"2"	"189871135"	"189871135"	"subst"	"0"	"01943"	"COL3A1_000586"	"g.189871135G>A"	""	""	""	"COL3A1(NM_000090.3):c.3158G>A (p.G1053D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189006409G>A"	""	"pathogenic"	""
"0000273996"	"0"	"90"	"2"	"189871158"	"189871159"	"del"	"0"	"01943"	"COL3A1_000865"	"g.189871158_189871159del"	""	""	""	"COL3A1(NM_000090.3):c.3181_3182delAG (p.S1061Wfs*2)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189006432_189006433del"	""	"pathogenic"	""
"0000273997"	"0"	"70"	"2"	"189872638"	"189872638"	"subst"	"0"	"01943"	"COL3A1_000556"	"g.189872638G>A"	""	""	""	"COL3A1(NM_000090.3):c.3391G>A (p.G1131S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189007912G>A"	""	"likely pathogenic"	""
"0000273998"	"0"	"30"	"2"	"189873901"	"189873901"	"subst"	"0.000557423"	"01943"	"COL3A1_000207"	"g.189873901T>C"	""	""	""	"COL3A1(NM_000090.3):c.3777T>C (p.A1259=), COL3A1(NM_000090.4):c.3777T>C (p.A1259=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189009175T>C"	""	"likely benign"	""
"0000273999"	"0"	"30"	"2"	"189852683"	"189852693"	"del"	"0"	"01943"	"COL3A1_000822"	"g.189852683_189852693del"	""	""	""	"COL3A1(NM_000090.3):c.529-124_529-114delAGTTATCAAAA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188987957_188987967del"	""	"likely benign"	""
"0000274000"	"0"	"90"	"2"	"189852826"	"189852826"	"subst"	"0"	"01943"	"COL3A1_000823"	"g.189852826G>T"	""	""	""	"COL3A1(NM_000090.3):c.548G>T (p.G183V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188988100G>T"	""	"pathogenic"	""
"0000274001"	"0"	"10"	"2"	"189853308"	"189853308"	"subst"	"0.00148001"	"01943"	"COL3A1_000824"	"g.189853308C>T"	""	""	""	"COL3A1(NM_000090.3):c.583-8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188988582C>T"	""	"benign"	""
"0000274002"	"0"	"30"	"2"	"189849464"	"189849464"	"subst"	"2.03875E-5"	"01943"	"COL3A1_000817"	"g.189849464C>T"	""	""	""	"COL3A1(NM_000090.3):c.80-22C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188984738C>T"	""	"likely benign"	""
"0000274003"	"0"	"30"	"2"	"189855743"	"189855743"	"subst"	"0.00134179"	"01943"	"COL3A1_000230"	"g.189855743G>A"	""	""	""	"COL3A1(NM_000090.3):c.812G>A (p.R271Q, p.(Arg271Gln)), COL3A1(NM_000090.4):c.812G>A (p.R271Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188991017G>A"	""	"likely benign"	""
"0000274004"	"0"	"70"	"2"	"189856959"	"189856959"	"subst"	"0"	"01943"	"COL3A1_000830"	"g.189856959G>C"	""	""	""	"COL3A1(NM_000090.3):c.996+5G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188992233G>C"	""	"likely pathogenic"	""
"0000328013"	"0"	"50"	"2"	"189856419"	"189856419"	"subst"	"0"	"01804"	"COL3A1_000827"	"g.189856419C>T"	""	""	""	"COL3A1(NM_000090.3):c.922C>T (p.(Arg308Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188991693C>T"	""	"VUS"	""
"0000328014"	"0"	"50"	"2"	"189870068"	"189870068"	"subst"	"0"	"01804"	"COL3A1_000861"	"g.189870068G>C"	""	""	""	"COL3A1(NM_000090.3):c.2932-8G>C (p.(=)), COL3A1(NM_000090.4):c.2932-8G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189005342G>C"	""	"VUS"	""
"0000328015"	"0"	"50"	"2"	"189873654"	"189873654"	"subst"	"0"	"01804"	"COL3A1_000868"	"g.189873654C>T"	""	""	""	"COL3A1(NM_000090.3):c.3530C>T (p.(Ser1177Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189008928C>T"	""	"VUS"	""
"0000347402"	"0"	"30"	"2"	"189875018"	"189875018"	"subst"	"0.000804192"	"02327"	"COL3A1_000231"	"g.189875018A>G"	""	""	""	"COL3A1(NM_000090.3):c.3938A>G (p.K1313R, p.(Lys1313Arg)), COL3A1(NM_000090.4):c.3938A>G (p.K1313R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.189010292A>G"	""	"likely benign"	""
"0000347689"	"0"	"50"	"2"	"189839218"	"189839218"	"subst"	"0"	"02327"	"COL3A1_000870"	"g.189839218G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188974492G>A"	""	"VUS"	""
"0000348550"	"0"	"30"	"2"	"189863424"	"189863424"	"subst"	"0.00176049"	"02327"	"COL3A1_000136"	"g.189863424C>A"	""	""	""	"COL3A1(NM_000090.3):c.2002C>A (p.P668T), COL3A1(NM_000090.4):c.2002C>A (p.P668T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.188998698C>A"	""	"likely benign"	""
"0000368372"	"0"	"55"	"2"	"189860439"	"189860439"	"subst"	"0"	"01807"	"COL3A1_000873"	"g.189860439G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.188995713G>A"	""	"VUS"	""
"0000439891"	"0"	"50"	"2"	"189874971"	"189874971"	"subst"	"4.06194E-6"	"01164"	"COL3A1_000874"	"g.189874971A>T"	""	""	""	""	"suspected marfan-syndrome or ehlers-danlos-syndrome"	"Germline"	""	"rs781206935"	"0"	""	""	"g.189010245A>T"	""	"VUS"	"ACMG"
"0000513667"	"0"	"30"	"2"	"189849520"	"189849520"	"subst"	"0.000329657"	"02326"	"COL3A1_000820"	"g.189849520C>G"	""	""	""	"COL3A1(NM_000090.3):c.114C>G (p.S38=), COL3A1(NM_000090.4):c.114C>G (p.S38=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188984794C>G"	""	"likely benign"	""
"0000513668"	"0"	"90"	"2"	"189849958"	"189849965"	"del"	"0"	"02329"	"COL3A1_000648"	"g.189849958_189849965del"	""	""	""	"COL3A1(NM_000090.4):c.318_325delCCCCAAGG (p.P107Rfs*13)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188985232_188985239del"	""	"pathogenic"	""
"0000513669"	"0"	"50"	"2"	"189850427"	"189850427"	"subst"	"0"	"02329"	"COL3A1_000653"	"g.189850427G>C"	""	""	""	"COL3A1(NM_000090.4):c.370G>C (p.G124R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188985701G>C"	""	"VUS"	""
"0000513670"	"0"	"90"	"2"	"189852833"	"189852833"	"del"	"0"	"01943"	"COL3A1_000126"	"g.189852833del"	""	""	""	"COL3A1(NM_000090.3):c.555delT (p.G186Vfs*36), COL3A1(NM_000090.4):c.555delT (p.G186Vfs*36)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188988107del"	""	"pathogenic"	""
"0000513671"	"0"	"90"	"2"	"189852833"	"189852833"	"del"	"0"	"02329"	"COL3A1_000126"	"g.189852833del"	""	""	""	"COL3A1(NM_000090.3):c.555delT (p.G186Vfs*36), COL3A1(NM_000090.4):c.555delT (p.G186Vfs*36)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188988107del"	""	"pathogenic"	""
"0000513672"	"0"	"90"	"2"	"189855041"	"189855041"	"del"	"0"	"02329"	"COL3A1_000876"	"g.189855041del"	""	""	""	"COL3A1(NM_000090.3):c.753delA (p.G252Vfs*11), COL3A1(NM_000090.4):c.753delA (p.G252Vfs*11)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188990315del"	""	"pathogenic"	""
"0000513673"	"0"	"90"	"2"	"189855061"	"189855061"	"subst"	"0"	"02329"	"COL3A1_000877"	"g.189855061G>T"	""	""	""	"COL3A1(NM_000090.4):c.773G>T (p.G258V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188990335G>T"	""	"pathogenic"	""
"0000513674"	"0"	"30"	"2"	"189855743"	"189855743"	"subst"	"0.00134179"	"01804"	"COL3A1_000230"	"g.189855743G>A"	""	""	""	"COL3A1(NM_000090.3):c.812G>A (p.R271Q, p.(Arg271Gln)), COL3A1(NM_000090.4):c.812G>A (p.R271Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188991017G>A"	""	"likely benign"	""
"0000513675"	"0"	"50"	"2"	"189855752"	"189855752"	"subst"	"0"	"02329"	"COL3A1_000654"	"g.189855752A>G"	""	""	""	"COL3A1(NM_000090.4):c.821A>G (p.E274G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188991026A>G"	""	"VUS"	""
"0000513676"	"0"	"30"	"2"	"189856239"	"189856239"	"subst"	"0"	"02329"	"COL3A1_000754"	"g.189856239T>C"	""	""	""	"COL3A1(NM_000090.4):c.879T>C (p.N293=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188991513T>C"	""	"likely benign"	""
"0000513677"	"0"	"50"	"2"	"189858165"	"189858165"	"subst"	"3.18078E-5"	"01943"	"COL3A1_000755"	"g.189858165G>A"	""	""	""	"COL3A1(NM_000090.3):c.1129G>A (p.A377T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188993439G>A"	""	"VUS"	""
"0000513678"	"0"	"90"	"2"	"189858764"	"189858764"	"subst"	"0"	"02329"	"COL3A1_000756"	"g.189858764G>C"	""	""	""	"COL3A1(NM_000090.4):c.1150G>C (p.G384R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188994038G>C"	""	"pathogenic"	""
"0000513679"	"0"	"90"	"2"	"189858791"	"189858791"	"subst"	"0"	"02329"	"COL3A1_000832"	"g.189858791G>C"	""	""	""	"COL3A1(NM_000090.3):c.1177G>C (p.G393R), COL3A1(NM_000090.4):c.1177G>C (p.G393R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188994065G>C"	""	"pathogenic"	""
"0000513680"	"0"	"10"	"2"	"189859445"	"189859446"	"del"	"0"	"02329"	"COL3A1_000757"	"g.189859445_189859446del"	""	""	""	"COL3A1(NM_000090.4):c.1348-5_1348-4delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188994719_188994720del"	""	"benign"	""
"0000513681"	"0"	"10"	"2"	"189859446"	"189859446"	"dup"	"0"	"02329"	"COL3A1_000758"	"g.189859446dup"	""	""	""	"COL3A1(NM_000090.3):c.1348-4dupT, COL3A1(NM_000090.4):c.1348-4dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188994720dup"	""	"benign"	""
"0000513682"	"0"	"30"	"2"	"189859759"	"189859759"	"subst"	"0"	"02329"	"COL3A1_000759"	"g.189859759T>C"	""	""	""	"COL3A1(NM_000090.4):c.1456-13T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188995033T>C"	""	"likely benign"	""
"0000513683"	"0"	"50"	"2"	"189859788"	"189859788"	"subst"	"1.21909E-5"	"02329"	"COL3A1_000655"	"g.189859788G>A"	""	""	""	"COL3A1(NM_000090.4):c.1472G>A (p.R491Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188995062G>A"	""	"VUS"	""
"0000513684"	"0"	"50"	"2"	"189861146"	"189861146"	"subst"	"1.21861E-5"	"01943"	"COL3A1_000761"	"g.189861146G>A"	""	""	""	"COL3A1(NM_000090.3):c.1685G>A (p.R562Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188996420G>A"	""	"VUS"	""
"0000513685"	"0"	"90"	"2"	"189861205"	"189861205"	"subst"	"0"	"02329"	"COL3A1_000044"	"g.189861205G>A"	""	""	""	"COL3A1(NM_000090.4):c.1744G>A (p.G582S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188996479G>A"	""	"pathogenic"	""
"0000513686"	"0"	"70"	"2"	"189861900"	"189861900"	"subst"	"0"	"01943"	"COL3A1_000633"	"g.189861900G>C"	""	""	""	"COL3A1(NM_000090.3):c.1771G>C (p.G591R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188997174G>C"	""	"likely pathogenic"	""
"0000513687"	"0"	"30"	"2"	"189861923"	"189861923"	"subst"	"0"	"01943"	"COL3A1_000764"	"g.189861923C>T"	""	""	""	"COL3A1(NM_000090.3):c.1794C>T (p.G598=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188997197C>T"	""	"likely benign"	""
"0000513688"	"0"	"50"	"2"	"189861947"	"189861947"	"del"	"0"	"02329"	"COL3A1_000656"	"g.189861947del"	""	""	""	"COL3A1(NM_000090.4):c.1815+3delA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188997221del"	""	"VUS"	""
"0000513689"	"0"	"50"	"2"	"189861949"	"189861949"	"subst"	"0.000588986"	"01943"	"COL3A1_000277"	"g.189861949G>A"	""	""	""	"COL3A1(NM_000090.3):c.1815+5G>A (p.?), COL3A1(NM_000090.4):c.1815+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188997223G>A"	""	"VUS"	""
"0000513690"	"0"	"10"	"2"	"189861949"	"189861949"	"subst"	"0.000588986"	"02329"	"COL3A1_000277"	"g.189861949G>A"	""	""	""	"COL3A1(NM_000090.3):c.1815+5G>A (p.?), COL3A1(NM_000090.4):c.1815+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188997223G>A"	""	"benign"	""
"0000513691"	"0"	"30"	"2"	"189862995"	"189862995"	"subst"	"0.00246586"	"01943"	"COL3A1_000186"	"g.189862995T>C"	""	""	""	"COL3A1(NM_000090.3):c.1927T>C (p.L643=), COL3A1(NM_000090.4):c.1927T>C (p.L643=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188998269T>C"	""	"likely benign"	""
"0000513692"	"0"	"30"	"2"	"189863055"	"189863055"	"subst"	"0.00013497"	"01943"	"COL3A1_000767"	"g.189863055G>A"	""	""	""	"COL3A1(NM_000090.3):c.1977+10G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188998329G>A"	""	"likely benign"	""
"0000513693"	"0"	"30"	"2"	"189863417"	"189863417"	"subst"	"6.09895E-5"	"02329"	"COL3A1_000768"	"g.189863417C>T"	""	""	""	"COL3A1(NM_000090.3):c.1995C>T (p.A665=), COL3A1(NM_000090.4):c.1995C>T (p.A665=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188998691C>T"	""	"likely benign"	""
"0000513694"	"0"	"50"	"2"	"189863424"	"189863424"	"subst"	"0.00176049"	"01943"	"COL3A1_000136"	"g.189863424C>A"	""	""	""	"COL3A1(NM_000090.3):c.2002C>A (p.P668T), COL3A1(NM_000090.4):c.2002C>A (p.P668T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188998698C>A"	""	"VUS"	""
"0000513695"	"0"	"30"	"2"	"189863424"	"189863424"	"subst"	"0.00176049"	"02326"	"COL3A1_000136"	"g.189863424C>A"	""	""	""	"COL3A1(NM_000090.3):c.2002C>A (p.P668T), COL3A1(NM_000090.4):c.2002C>A (p.P668T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188998698C>A"	""	"likely benign"	""
"0000513696"	"0"	"30"	"2"	"189863424"	"189863424"	"subst"	"0.00176049"	"02329"	"COL3A1_000136"	"g.189863424C>A"	""	""	""	"COL3A1(NM_000090.3):c.2002C>A (p.P668T), COL3A1(NM_000090.4):c.2002C>A (p.P668T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188998698C>A"	""	"likely benign"	""
"0000513697"	"0"	"30"	"2"	"189863424"	"189863424"	"subst"	"0.000317132"	"01804"	"COL3A1_000851"	"g.189863424C>T"	""	""	""	"COL3A1(NM_000090.3):c.2002C>T (p.(Pro668Ser)), COL3A1(NM_000090.4):c.2002C>T (p.P668S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188998698C>T"	""	"likely benign"	""
"0000513699"	"0"	"90"	"2"	"189864038"	"189864038"	"subst"	"0"	"02329"	"COL3A1_000651"	"g.189864038G>A"	""	""	""	"COL3A1(NM_000090.4):c.2050G>A (p.G684R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188999312G>A"	""	"pathogenic"	""
"0000513700"	"0"	"10"	"2"	"189864080"	"189864080"	"subst"	"0.249659"	"01943"	"COL3A1_000137"	"g.189864080G>A"	""	""	""	"COL3A1(NM_000090.3):c.2092G>A (p.A698T), COL3A1(NM_000090.4):c.2092G>A (p.A698T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188999354G>A"	""	"benign"	""
"0000513701"	"0"	"10"	"2"	"189864080"	"189864080"	"subst"	"0.249659"	"02325"	"COL3A1_000137"	"g.189864080G>A"	""	""	""	"COL3A1(NM_000090.3):c.2092G>A (p.A698T), COL3A1(NM_000090.4):c.2092G>A (p.A698T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188999354G>A"	""	"benign"	""
"0000513702"	"0"	"10"	"2"	"189864080"	"189864080"	"subst"	"0.249659"	"02329"	"COL3A1_000137"	"g.189864080G>A"	""	""	""	"COL3A1(NM_000090.3):c.2092G>A (p.A698T), COL3A1(NM_000090.4):c.2092G>A (p.A698T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188999354G>A"	""	"benign"	""
"0000513703"	"0"	"70"	"2"	"189864569"	"189864569"	"subst"	"0"	"01943"	"COL3A1_000601"	"g.189864569G>A"	""	""	""	"COL3A1(NM_000090.3):c.2231G>A (p.G744D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188999843G>A"	""	"likely pathogenic"	""
"0000513704"	"0"	"30"	"2"	"189867725"	"189867725"	"subst"	"2.00973E-5"	"02329"	"COL3A1_000855"	"g.189867725G>A"	""	""	""	"COL3A1(NM_000090.3):c.2490G>A (p.P830=), COL3A1(NM_000090.4):c.2490G>A (p.P830=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189002999G>A"	""	"likely benign"	""
"0000513705"	"0"	"30"	"2"	"189867731"	"189867731"	"subst"	"0"	"02326"	"COL3A1_000772"	"g.189867731G>A"	""	""	""	"COL3A1(NM_000090.3):c.2496G>A (p.E832=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189003005G>A"	""	"likely benign"	""
"0000513706"	"0"	"50"	"2"	"189867750"	"189867750"	"subst"	"0"	"02329"	"COL3A1_000657"	"g.189867750C>T"	""	""	""	"COL3A1(NM_000090.4):c.2515C>T (p.P839S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189003024C>T"	""	"VUS"	""
"0000513707"	"0"	"30"	"2"	"189867757"	"189867757"	"subst"	"0"	"01804"	"COL3A1_000774"	"g.189867757T>C"	""	""	""	"COL3A1(NM_000090.3):c.2522T>C (p.(Val841Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189003031T>C"	""	"likely benign"	""
"0000513708"	"0"	"10"	"2"	"189868535"	"189868535"	"subst"	"0.0234028"	"01943"	"COL3A1_000775"	"g.189868535T>A"	""	""	""	"COL3A1(NM_000090.3):c.2661+22T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189003809T>A"	""	"benign"	""
"0000513709"	"0"	"50"	"2"	"189868746"	"189868746"	"subst"	"0.000469303"	"01943"	"COL3A1_000858"	"g.189868746C>T"	""	""	""	"COL3A1(NM_000090.3):c.2700C>T (p.G900=), COL3A1(NM_000090.4):c.2700C>T (p.G900=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189004020C>T"	""	"VUS"	""
"0000513710"	"0"	"50"	"2"	"189869025"	"189869025"	"subst"	"0"	"01943"	"COL3A1_000776"	"g.189869025C>T"	""	""	""	"COL3A1(NM_000090.3):c.2866C>T (p.R956W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189004299C>T"	""	"VUS"	""
"0000513711"	"0"	"50"	"2"	"189869026"	"189869026"	"subst"	"0"	"02329"	"COL3A1_000658"	"g.189869026G>A"	""	""	""	"COL3A1(NM_000090.4):c.2867G>A (p.R956Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189004300G>A"	""	"VUS"	""
"0000513713"	"0"	"30"	"2"	"189871110"	"189871110"	"subst"	"0.00056875"	"01943"	"COL3A1_000747"	"g.189871110G>A"	""	""	""	"COL3A1(NM_000090.3):c.3133G>A (p.A1045T), COL3A1(NM_000090.4):c.3133G>A (p.A1045T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189006384G>A"	""	"likely benign"	""
"0000513714"	"0"	"30"	"2"	"189871110"	"189871110"	"subst"	"0.00056875"	"02326"	"COL3A1_000747"	"g.189871110G>A"	""	""	""	"COL3A1(NM_000090.3):c.3133G>A (p.A1045T), COL3A1(NM_000090.4):c.3133G>A (p.A1045T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189006384G>A"	""	"likely benign"	""
"0000513715"	"0"	"10"	"2"	"189871110"	"189871110"	"subst"	"0.00056875"	"02329"	"COL3A1_000747"	"g.189871110G>A"	""	""	""	"COL3A1(NM_000090.3):c.3133G>A (p.A1045T), COL3A1(NM_000090.4):c.3133G>A (p.A1045T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189006384G>A"	""	"benign"	""
"0000513716"	"0"	"90"	"2"	"189871680"	"189871683"	"dup"	"0"	"02329"	"COL3A1_000652"	"g.189871680_189871683dup"	""	""	""	"COL3A1(NM_000090.4):c.3219_3222dupTGGT (p.A1075Wfs*20)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189006954_189006957dup"	""	"pathogenic"	""
"0000513717"	"0"	"50"	"2"	"189872260"	"189872260"	"subst"	"0"	"01943"	"COL3A1_000781"	"g.189872260C>G"	""	""	""	"COL3A1(NM_000090.3):c.3290C>G (p.T1097R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189007534C>G"	""	"VUS"	""
"0000513718"	"0"	"30"	"2"	"189872608"	"189872608"	"subst"	"0"	"02329"	"COL3A1_000782"	"g.189872608C>T"	""	""	""	"COL3A1(NM_000090.3):c.3364-3C>T (p.?), COL3A1(NM_000090.4):c.3364-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189007882C>T"	""	"likely benign"	""
"0000513719"	"0"	"30"	"2"	"189873700"	"189873700"	"subst"	"4.06359E-6"	"02329"	"COL3A1_000783"	"g.189873700C>T"	""	""	""	"COL3A1(NM_000090.3):c.3576C>T (p.A1192=), COL3A1(NM_000090.4):c.3576C>T (p.A1192=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189008974C>T"	""	"likely benign"	""
"0000513720"	"0"	"30"	"2"	"189873766"	"189873766"	"subst"	"0.000481161"	"01943"	"COL3A1_000784"	"g.189873766C>A"	""	""	""	"COL3A1(NM_000090.3):c.3642C>A (p.G1214=), COL3A1(NM_000090.4):c.3642C>A (p.G1214=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189009040C>A"	""	"likely benign"	""
"0000513721"	"0"	"50"	"2"	"189875018"	"189875018"	"subst"	"0.000804192"	"01943"	"COL3A1_000231"	"g.189875018A>G"	""	""	""	"COL3A1(NM_000090.3):c.3938A>G (p.K1313R, p.(Lys1313Arg)), COL3A1(NM_000090.4):c.3938A>G (p.K1313R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189010292A>G"	""	"VUS"	""
"0000513722"	"0"	"30"	"2"	"189875018"	"189875018"	"subst"	"0.000804192"	"02326"	"COL3A1_000231"	"g.189875018A>G"	""	""	""	"COL3A1(NM_000090.3):c.3938A>G (p.K1313R, p.(Lys1313Arg)), COL3A1(NM_000090.4):c.3938A>G (p.K1313R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189010292A>G"	""	"likely benign"	""
"0000513723"	"0"	"50"	"2"	"189875374"	"189875374"	"subst"	"0"	"02329"	"COL3A1_000659"	"g.189875374T>A"	""	""	""	"COL3A1(NM_000090.4):c.4012T>A (p.F1338I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189010648T>A"	""	"VUS"	""
"0000513724"	"0"	"30"	"2"	"189875538"	"189875538"	"subst"	"2.43787E-5"	"01943"	"COL3A1_000869"	"g.189875538G>A"	""	""	""	"COL3A1(NM_000090.3):c.4176G>A (p.L1392=), COL3A1(NM_000090.4):c.4176G>A (p.L1392=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189010812G>A"	""	"likely benign"	""
"0000607342"	"0"	"30"	"2"	"189854862"	"189854862"	"subst"	"0"	"02327"	"COL3A1_000786"	"g.189854862T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188990136T>C"	""	"likely benign"	""
"0000607343"	"0"	"50"	"2"	"189856233"	"189856233"	"subst"	"9.75848E-5"	"02327"	"COL3A1_000787"	"g.189856233C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188991507C>T"	""	"VUS"	""
"0000607344"	"0"	"70"	"2"	"189857623"	"189857623"	"subst"	"0"	"02327"	"COL3A1_000788"	"g.189857623G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188992897G>T"	""	"likely pathogenic"	""
"0000607345"	"0"	"30"	"2"	"189861906"	"189861906"	"subst"	"0"	"02327"	"COL3A1_000790"	"g.189861906A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188997180A>G"	""	"likely benign"	""
"0000607346"	"0"	"30"	"2"	"189873700"	"189873700"	"subst"	"4.06359E-6"	"02327"	"COL3A1_000783"	"g.189873700C>T"	""	""	""	"COL3A1(NM_000090.3):c.3576C>T (p.A1192=), COL3A1(NM_000090.4):c.3576C>T (p.A1192=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189008974C>T"	""	"likely benign"	""
"0000620900"	"0"	"90"	"2"	"189855041"	"189855041"	"del"	"0"	"02326"	"COL3A1_000876"	"g.189855041del"	""	""	""	"COL3A1(NM_000090.3):c.753delA (p.G252Vfs*11), COL3A1(NM_000090.4):c.753delA (p.G252Vfs*11)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188990315del"	""	"pathogenic"	""
"0000620901"	"0"	"50"	"2"	"189855752"	"189855752"	"subst"	"0"	"02325"	"COL3A1_000654"	"g.189855752A>G"	""	""	""	"COL3A1(NM_000090.4):c.821A>G (p.E274G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188991026A>G"	""	"VUS"	""
"0000620902"	"0"	"50"	"2"	"189858172"	"189858172"	"subst"	"0"	"02325"	"COL3A1_000789"	"g.189858172C>A"	""	""	""	"COL3A1(NM_000090.4):c.1136C>A (p.A379D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188993446C>A"	""	"VUS"	""
"0000620903"	"0"	"30"	"2"	"189858802"	"189858802"	"subst"	"0.000117783"	"02326"	"COL3A1_000833"	"g.189858802C>T"	""	""	""	"COL3A1(NM_000090.3):c.1188C>T (p.G396=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188994076C>T"	""	"likely benign"	""
"0000620904"	"0"	"30"	"2"	"189873766"	"189873766"	"subst"	"0.000481161"	"02329"	"COL3A1_000784"	"g.189873766C>A"	""	""	""	"COL3A1(NM_000090.3):c.3642C>A (p.G1214=), COL3A1(NM_000090.4):c.3642C>A (p.G1214=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189009040C>A"	""	"likely benign"	""
"0000645992"	"0"	"70"	"2"	"189870121"	"189870121"	"subst"	"0"	"03600"	"COL3A1_000791"	"g.189870121G>A"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.189005395G>A"	""	"VUS"	""
"0000646865"	"0"	"50"	"2"	"189856957"	"189856957"	"subst"	"0"	"01741"	"COL3A1_000792"	"g.189856957A>G"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188992231A>G"	""	"VUS"	""
"0000650361"	"1"	"90"	"2"	"189852843"	"189852843"	"subst"	"0"	"03575"	"COL3A1_000375"	"g.189852843G>C"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs587779507}"	"Germline"	""	"rs587779507"	"0"	""	""	"g.188988117G>C"	""	"pathogenic"	""
"0000650362"	"1"	"90"	"2"	"189860860"	"189860860"	"subst"	"0"	"03575"	"COL3A1_000040"	"g.189860860G>A"	"1/2792 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs587779584}"	"Germline"	""	"rs587779584"	"0"	""	""	"g.188996134G>A"	""	"pathogenic"	""
"0000650363"	"1"	"30"	"2"	"189861933"	"189861933"	"subst"	"0.00451226"	"03575"	"COL3A1_000197"	"g.189861933C>A"	"4/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"4 heterozygous, no homozygous; {DB:CLININrs35795890}"	"Germline"	""	"rs35795890"	"0"	""	""	"g.188997207C>A"	""	"likely benign"	""
"0000650364"	"1"	"50"	"2"	"189870163"	"189870163"	"subst"	"0.000186854"	"03575"	"COL3A1_000797"	"g.189870163G>A"	"1/2792 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs201220788}"	"Germline"	""	"rs201220788"	"0"	""	""	"g.189005437G>A"	""	"VUS"	""
"0000650365"	"1"	"50"	"2"	"189871110"	"189871110"	"subst"	"0.00056875"	"03575"	"COL3A1_000747"	"g.189871110G>A"	"1/2791 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs149722210}"	"Germline"	""	"rs149722210"	"0"	""	""	"g.189006384G>A"	""	"VUS"	""
"0000650366"	"1"	"90"	"2"	"189873687"	"189873687"	"subst"	"0"	"03575"	"COL3A1_000123"	"g.189873687G>A"	"1/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs112456072}"	"Germline"	""	"rs112456072"	"0"	""	""	"g.189008961G>A"	""	"pathogenic"	""
"0000650367"	"1"	"30"	"2"	"189875125"	"189875125"	"subst"	"0.0296068"	"03575"	"COL3A1_000799"	"g.189875125A>G"	"144/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"144 heterozygous; {DB:CLININrs41265549}"	"Germline"	""	"rs41265549"	"0"	""	""	"g.189010399A>G"	""	"likely benign"	""
"0000650368"	"1"	"70"	"2"	"189875449"	"189875449"	"subst"	"0"	"03575"	"COL3A1_000800"	"g.189875449C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs794728060}"	"Germline"	""	"rs794728060"	"0"	""	""	"g.189010723C>T"	""	"likely pathogenic"	""
"0000653035"	"1"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"03575"	"COL3A1_000006"	"g.189852825G>A"	"1/2780 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs121912926}"	"Germline"	""	"rs121912926"	"0"	""	""	"g.188988099G>A"	""	"pathogenic"	""
"0000653152"	"1"	"70"	"2"	"189863410"	"189863410"	"subst"	"0"	"03575"	"COL3A1_000468"	"g.189863410G>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs587779454}"	"Germline"	""	"rs587779454"	"0"	""	""	"g.188998684G>T"	""	"likely pathogenic"	""
"0000654464"	"0"	"30"	"2"	"189849517"	"189849517"	"subst"	"0"	"02329"	"COL3A1_000801"	"g.189849517G>A"	""	""	""	"COL3A1(NM_000090.4):c.111G>A (p.Q37=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188984791G>A"	""	"likely benign"	""
"0000654465"	"0"	"50"	"2"	"189849519"	"189849519"	"subst"	"4.06961E-6"	"02326"	"COL3A1_000802"	"g.189849519C>A"	""	""	""	"COL3A1(NM_000090.3):c.113C>A (p.S38Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188984793C>A"	""	"VUS"	""
"0000654466"	"0"	"30"	"2"	"189863424"	"189863424"	"subst"	"0.00176049"	"02325"	"COL3A1_000136"	"g.189863424C>A"	""	""	""	"COL3A1(NM_000090.3):c.2002C>A (p.P668T), COL3A1(NM_000090.4):c.2002C>A (p.P668T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188998698C>A"	""	"likely benign"	""
"0000654467"	"0"	"30"	"2"	"189863850"	"189863850"	"subst"	"0"	"02329"	"COL3A1_000803"	"g.189863850T>C"	""	""	""	"COL3A1(NM_000090.4):c.2023-161T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188999124T>C"	""	"likely benign"	""
"0000654468"	"0"	"30"	"2"	"189864358"	"189864358"	"subst"	"0"	"02329"	"COL3A1_000804"	"g.189864358A>G"	""	""	""	"COL3A1(NM_000090.4):c.2229+55A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.188999632A>G"	""	"likely benign"	""
"0000654469"	"0"	"30"	"2"	"189867359"	"189867359"	"subst"	"0"	"02329"	"COL3A1_000805"	"g.189867359G>A"	""	""	""	"COL3A1(NM_000090.4):c.2445+282G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189002633G>A"	""	"likely benign"	""
"0000654470"	"0"	"30"	"2"	"189867799"	"189867799"	"subst"	"0"	"02329"	"COL3A1_000806"	"g.189867799T>C"	""	""	""	"COL3A1(NM_000090.4):c.2553+11T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.189003073T>C"	""	"likely benign"	""
"0000660105"	"0"	"70"	"2"	"189876394"	"189876394"	"subst"	"2.03176E-5"	"01164"	"COL3A1_000626"	"g.189876394G>T"	""	""	""	""	"ACMG grading: PS3,PM2,PP3; does probably explain only a part of the clinical presentation of the patient; Stembridge et al. 2015. Am J Med Genet A 167: 1763"	"Germline"	""	"rs772428340"	"0"	""	""	"g.189011668G>T"	""	"likely pathogenic"	"ACMG"
"0000665316"	"0"	"90"	"2"	"189875616"	"189875616"	"subst"	"0"	"01164"	"COL3A1_000579"	"g.189875616G>A"	""	""	""	""	"ACMG grading: PM1,PM2,PM3,PP5; no second variant in OCA2 detected; Lee et al. 1994. NEJM 330: 529; Andersen et al. 2016. Mol Genet Genomic Med 4: 420; Zhang et al. 2013. Zhonghua Yi Xue Yi Chuan Xue Za Zh 30: 318; Bellono et al. 2014. Elife 16: 4543; Hutton et al. 2008. Invest Ophthalmol Vis Sci 49: 868"	"Germline"	""	"rs587779565"	"0"	""	""	"g.189010890G>A"	""	"pathogenic"	"ACMG"
"0000669579"	"3"	"30"	"2"	"189875125"	"189875125"	"subst"	"0.0296068"	"03575"	"COL3A1_000799"	"g.189875125A>G"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 homozygous; {DB:CLININrs41265549}"	"Germline"	""	"rs41265549"	"0"	""	""	"g.189010399A>G"	""	"likely benign"	""
"0000676416"	"0"	"30"	"2"	"189849427"	"189849427"	"subst"	"0"	"02329"	"COL3A1_000809"	"g.189849427C>T"	""	""	""	"COL3A1(NM_000090.4):c.80-59C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000676417"	"0"	"90"	"2"	"189854123"	"189854123"	"subst"	"0"	"02325"	"COL3A1_000333"	"g.189854123G>A"	""	""	""	"COL3A1(NM_000090.4):c.638G>A (p.G213D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000676418"	"0"	"50"	"2"	"189855064"	"189855064"	"subst"	"0"	"01804"	"COL3A1_000811"	"g.189855064T>C"	""	""	""	"COL3A1(NM_000090.3):c.776T>C (p.(Phe259Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000676419"	"0"	"30"	"2"	"189869099"	"189869099"	"subst"	"9.3881E-5"	"02326"	"COL3A1_000812"	"g.189869099A>T"	""	""	""	"COL3A1(NM_000090.3):c.2931+9A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000676420"	"0"	"30"	"2"	"189872608"	"189872608"	"subst"	"0"	"01804"	"COL3A1_000782"	"g.189872608C>T"	""	""	""	"COL3A1(NM_000090.3):c.3364-3C>T (p.?), COL3A1(NM_000090.4):c.3364-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000688583"	"0"	"30"	"2"	"189864579"	"189864579"	"subst"	"0"	"01943"	"COL3A1_000813"	"g.189864579C>T"	""	""	""	"COL3A1(NM_000090.3):c.2241C>T (p.G747=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000688584"	"0"	"70"	"2"	"189868772"	"189868772"	"subst"	"0"	"02326"	"COL3A1_000074"	"g.189868772G>A"	""	""	""	"COL3A1(NM_000090.3):c.2726G>A (p.G909D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000698844"	"0"	"55"	"2"	"189873942"	"189873942"	"subst"	"0.000122611"	"01602"	"COL3A1_000317"	"g.189873942A>G"	""	"{PMID:Neubauer 2021:33895855}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000702087"	"0"	"99"	"2"	"189839099"	"189877472"	"del"	"0"	"00736"	"COL3A1_000620"	"g.(?_189839099)_(189877472_?)del"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702088"	"21"	"99"	"2"	"189839245"	"189839245"	"subst"	"0"	"03704"	"COL3A1_000373"	"g.189839245G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702089"	"0"	"11"	"2"	"189849525"	"189849525"	"subst"	"1.6282E-5"	"00085"	"COL3A1_000746"	"g.189849525C>T"	""	"{PMID:Sakai et al., 2011:22001912}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000702090"	"0"	"37"	"2"	"189849536"	"189849536"	"subst"	"0.000297086"	"00736"	"COL3A1_000587"	"g.189849536G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702091"	"3"	"99"	"2"	"189849551"	"189849551"	"subst"	"4.06987E-6"	"00085"	"COL3A1_000646"	"g.189849551C>G"	""	"{PMID:Vandervore et al., 2017:28258187}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702092"	"3"	"99"	"2"	"189849551"	"189849551"	"subst"	"4.06987E-6"	"00085"	"COL3A1_000646"	"g.189849551C>G"	""	"{PMID:Horn et al., 2017:28742248}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702093"	"0"	"77"	"2"	"189849600"	"189849601"	"dup"	"0"	"00085"	"COL3A1_000693"	"g.189849600_189849601dup"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702094"	"0"	"33"	"2"	"189849604"	"189849604"	"subst"	"2.85081E-5"	"03711"	"COL3A1_000631"	"g.189849604A>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"benign"	""
"0000702095"	"0"	"99"	"2"	"189849608"	"189849613"	"del"	"0"	"00736"	"COL3A1_000340"	"g.189849608_189849613del"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702096"	"0"	"99"	"2"	"189849958"	"189849965"	"del"	"0"	"01233"	"COL3A1_000648"	"g.189849958_189849965del"	""	"{PMID:Overwater et al., 2018:29907982}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702097"	"0"	"55"	"2"	"189850427"	"189850427"	"subst"	"0"	"01233"	"COL3A1_000653"	"g.189850427G>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000702098"	"0"	"99"	"2"	"189850470"	"189850470"	"del"	"0"	"03704"	"COL3A1_000125"	"g.189850470del"	""	"{PMID:Schwarze et al., 2001:11577371} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702099"	"3"	"99"	"2"	"189851816"	"189851816"	"dup"	"0"	"00085"	"COL3A1_000078"	"g.189851816dup"	""	"{PMID:Plancke et al., 2009:19455184}"	""	""	""	"Unknown"	""	"rs397509377"	"0"	""	""	""	""	"pathogenic"	""
"0000702100"	"0"	"99"	"2"	"189851842"	"189851842"	"subst"	"0.000793334"	"00085"	"COL3A1_000004"	"g.189851842C>T"	""	"Anderson et al., 1994 Matrix Biology 14, 392"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702101"	"0"	"97"	"2"	"189851870"	"189851870"	"subst"	"0"	"00085"	"COL3A1_000736"	"g.189851870G>A"	""	"{PMID:Henneton et al, 2019:30919682}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702102"	"0"	"99"	"2"	"189852808"	"189852808"	"subst"	"0"	"00736"	"COL3A1_000588"	"g.189852808G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702103"	"0"	"11"	"2"	"189852809"	"189852809"	"subst"	"2.44427E-5"	"00085"	"COL3A1_000183"	"g.189852809C>A"	""	"{PMID:Chan et al., 2008:18272325}"	""	""	""	"Unknown"	""	"rs41272797"	"0"	""	""	""	""	"likely benign"	""
"0000702104"	"0"	"99"	"2"	"189852814"	"189852814"	"del"	"0"	"00085"	"COL3A1_000742"	"g.189852814del"	""	"{PMID:Weerakkody et al., 2018:29543232}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702105"	"0"	"99"	"2"	"189852817"	"189852817"	"subst"	"0"	"00085"	"COL3A1_000250"	"g.189852817G>A"	""	"{PMID:Naing et al., 2011:21219851}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702106"	"0"	"99"	"2"	"189852817"	"189852817"	"subst"	"0"	"00736"	"COL3A1_000250"	"g.189852817G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702107"	"0"	"99"	"2"	"189852817"	"189852817"	"subst"	"0"	"03704"	"COL3A1_000250"	"g.189852817G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702108"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"03704"	"COL3A1_000006"	"g.189852825G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702109"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"03704"	"COL3A1_000006"	"g.189852825G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702110"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"03704"	"COL3A1_000006"	"g.189852825G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702111"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"03704"	"COL3A1_000006"	"g.189852825G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702112"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"03704"	"COL3A1_000006"	"g.189852825G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702113"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"03704"	"COL3A1_000006"	"g.189852825G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702114"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"03704"	"COL3A1_000006"	"g.189852825G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702115"	"0"	"59"	"2"	"189852825"	"189852825"	"subst"	"0"	"00475"	"COL3A1_000006"	"g.189852825G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702116"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"00085"	"COL3A1_000006"	"g.189852825G>A"	""	"{PMID:Mortani Barbosa et al., 2011:22065459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702117"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"00736"	"COL3A1_000006"	"g.189852825G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702118"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"03704"	"COL3A1_000006"	"g.189852825G>A"	""	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702119"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"03704"	"COL3A1_000006"	"g.189852825G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702120"	"20"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"03704"	"COL3A1_000006"	"g.189852825G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702121"	"10"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"03704"	"COL3A1_000006"	"g.189852825G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702122"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"03704"	"COL3A1_000006"	"g.189852825G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702123"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"03704"	"COL3A1_000006"	"g.189852825G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702124"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"03704"	"COL3A1_000006"	"g.189852825G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702125"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"03704"	"COL3A1_000006"	"g.189852825G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702126"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"03704"	"COL3A1_000006"	"g.189852825G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702127"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"03704"	"COL3A1_000006"	"g.189852825G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702128"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"03704"	"COL3A1_000006"	"g.189852825G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702129"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"00736"	"COL3A1_000006"	"g.189852825G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702130"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"03704"	"COL3A1_000374"	"g.189852825G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702131"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"03704"	"COL3A1_000005"	"g.189852825G>T"	""	"{PMID:Smith et al., 1997:9036918} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702132"	"0"	"99"	"2"	"189852826"	"189852826"	"subst"	"0"	"03704"	"COL3A1_000001"	"g.189852826G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702133"	"0"	"99"	"2"	"189852826"	"189852826"	"subst"	"0"	"00736"	"COL3A1_000001"	"g.189852826G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702134"	"0"	"99"	"2"	"189852826"	"189852826"	"subst"	"0"	"03707"	"COL3A1_000297"	"g.189852826G>C"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702135"	"11"	"99"	"2"	"189852826"	"189852826"	"subst"	"0"	"03704"	"COL3A1_000297"	"g.189852826G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702136"	"0"	"77"	"2"	"189852828"	"189852828"	"subst"	"0"	"00475"	"COL3A1_000214"	"g.189852828C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702137"	"0"	"99"	"2"	"189852833"	"189852833"	"del"	"0"	"03704"	"COL3A1_000126"	"g.189852833del"	""	"{PMID:Schwarze et al., 2001:11577371} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702138"	"0"	"99"	"2"	"189852833"	"189852833"	"del"	"0"	"03704"	"COL3A1_000126"	"g.189852833del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702139"	"0"	"99"	"2"	"189852833"	"189852833"	"del"	"0"	"01233"	"COL3A1_000126"	"g.189852833del"	""	"{PMID:Overwater et al., 2018:29907982}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702140"	"0"	"99"	"2"	"189852834"	"189852834"	"subst"	"0"	"00736"	"COL3A1_000330"	"g.189852834G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702141"	"0"	"99"	"2"	"189852834"	"189852834"	"subst"	"0"	"03704"	"COL3A1_000330"	"g.189852834G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702142"	"0"	"99"	"2"	"189852843"	"189852843"	"subst"	"0"	"03704"	"COL3A1_000375"	"g.189852843G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702143"	"10"	"99"	"2"	"189852852"	"189852852"	"subst"	"0"	"00085"	"COL3A1_000674"	"g.189852852G>A"	""	"{PMID:Henrard et al., 2019:30623691}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702144"	"0"	"99"	"2"	"189852853"	"189852853"	"subst"	"0"	"00736"	"COL3A1_000279"	"g.189852853G>A"	""	"{PMID:Ferré et al., 2012:22492385}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702145"	"0"	"99"	"2"	"189852853"	"189852853"	"subst"	"0"	"00736"	"COL3A1_000279"	"g.189852853G>A"	""	"{PMID:Ferré et al., 2012:22492385}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702146"	"0"	"99"	"2"	"189852853"	"189852853"	"subst"	"0"	"00736"	"COL3A1_000279"	"g.189852853G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702147"	"0"	"99"	"2"	"189852853"	"189852853"	"subst"	"0"	"03704"	"COL3A1_000007"	"g.189852853G>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702148"	"0"	"99"	"2"	"189852861"	"189852861"	"subst"	"0"	"03704"	"COL3A1_000139"	"g.189852861G>C"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702149"	"10"	"99"	"2"	"189852861"	"189852861"	"subst"	"0"	"03704"	"COL3A1_000139"	"g.189852861G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702150"	"0"	"99"	"2"	"189852862"	"189852862"	"dup"	"0"	"03704"	"COL3A1_000139"	"g.189852862dup"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702151"	"0"	"99"	"2"	"189852865"	"189852865"	"subst"	"0"	"03704"	"COL3A1_000377"	"g.189852865G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702152"	"0"	"99"	"2"	"189852865"	"189852865"	"subst"	"0"	"00736"	"COL3A1_000377"	"g.189852865G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702153"	"20"	"99"	"2"	"189852865"	"189852865"	"subst"	"0"	"03704"	"COL3A1_000378"	"g.189852865G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702154"	"0"	"99"	"2"	"189852865"	"189852871"	"delins"	"0"	"03704"	"COL3A1_000376"	"g.189852865_189852871delinsACA"	""	"{PMID:Pepin et al., 2014:24922459}"	""	"582+5_+11delinsACA"	""	"Unknown"	""	""	"0"	""	""	"g.188988139_188988145delinsACA"	""	"pathogenic"	""
"0000702155"	"0"	"99"	"2"	"189852866"	"189852866"	"subst"	"0"	"03704"	"COL3A1_000379"	"g.189852866T>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702156"	"0"	"99"	"2"	"189852866"	"189852866"	"subst"	"0"	"00085"	"COL3A1_000161"	"g.189852866T>C"	""	"{PMID:Lloyd et al., 1993:8320698}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702157"	"0"	"99"	"2"	"189852866"	"189852866"	"subst"	"0"	"00085"	"COL3A1_000161"	"g.189852866T>C"	""	"{PMID:Pope et al., 1996:8881656}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702158"	"0"	"99"	"2"	"189852913"	"189855403"	"delins"	"0"	"03704"	"COL3A1_000127"	"g.189852913_189855403delinsATGCAAAATCAAA"	""	"{PMID:Milewicz et al., 1993:8317500} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702159"	"0"	"99"	"2"	"189853316"	"189853316"	"subst"	"0"	"00085"	"COL3A1_000673"	"g.189853316G>A"	""	"{PMID:Sanchez-Baya et al., 2019:31394546}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702160"	"10"	"99"	"2"	"189853316"	"189853316"	"subst"	"0"	"03704"	"COL3A1_000380"	"g.189853316G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702161"	"0"	"99"	"2"	"189853316"	"189853316"	"subst"	"0"	"03705"	"COL3A1_000380"	"g.189853316G>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702162"	"10"	"99"	"2"	"189853325"	"189853325"	"subst"	"0"	"03704"	"COL3A1_000381"	"g.189853325G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702163"	"10"	"99"	"2"	"189853326"	"189853326"	"subst"	"0"	"03704"	"COL3A1_000382"	"g.189853326G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702164"	"0"	"99"	"2"	"189853334"	"189853334"	"subst"	"0"	"03704"	"COL3A1_000008"	"g.189853334G>C"	""	"{PMID:Smith et al., 1997:9036918} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702165"	"0"	"99"	"2"	"189853343"	"189853343"	"subst"	"0"	"03704"	"COL3A1_000009"	"g.189853343G>A"	""	"{PMID:Collins et al., 1999:9841712} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702166"	"0"	"99"	"2"	"189853344"	"189853344"	"subst"	"0"	"00085"	"COL3A1_000010"	"g.189853344G>A"	""	"{PMID:Giunta and Steinmann, 2000:10923041}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702167"	"0"	"99"	"2"	"189853344"	"189853344"	"subst"	"0"	"03704"	"COL3A1_000010"	"g.189853344G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702168"	"0"	"99"	"2"	"189853348"	"189853362"	"dup"	"0"	"03704"	"COL3A1_000383"	"g.189853348_189853362dup"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702169"	"0"	"99"	"2"	"189853353"	"189853353"	"subst"	"0"	"00085"	"COL3A1_000694"	"g.189853353G>A"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702170"	"10"	"99"	"2"	"189853353"	"189853353"	"subst"	"0"	"03705"	"COL3A1_000668"	"g.189853353G>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702171"	"0"	"99"	"2"	"189853353"	"189853353"	"subst"	"0"	"03704"	"COL3A1_000384"	"g.189853353G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702172"	"0"	"99"	"2"	"189853362"	"189853362"	"subst"	"0"	"00085"	"COL3A1_000011"	"g.189853362G>A"	""	"{PMID:Giunta and Steinmann, 2000:10923041}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702173"	"0"	"99"	"2"	"189853362"	"189853362"	"subst"	"0"	"03704"	"COL3A1_000011"	"g.189853362G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702174"	"0"	"99"	"2"	"189853364"	"189853375"	"delins"	"0"	"03704"	"COL3A1_000385"	"g.189853364_189853375delinsTACTAAATATA"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702175"	"0"	"99"	"2"	"189853370"	"189853370"	"subst"	"0"	"03704"	"COL3A1_000386"	"g.189853370G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702176"	"0"	"99"	"2"	"189853374"	"189853374"	"subst"	"0"	"03704"	"COL3A1_000140"	"g.189853374G>A"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702177"	"0"	"99"	"2"	"189853374"	"189853374"	"subst"	"0"	"03704"	"COL3A1_000140"	"g.189853374G>A"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702178"	"0"	"99"	"2"	"189853374"	"189853374"	"subst"	"0"	"00085"	"COL3A1_000140"	"g.189853374G>A"	""	"{PMID:Pinto et al., 2000:10928898}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702179"	"0"	"99"	"2"	"189853374"	"189853374"	"subst"	"0"	"03704"	"COL3A1_000140"	"g.189853374G>A"	""	"{PMID:Chuman et al., 2002:12131463} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702180"	"0"	"99"	"2"	"189853374"	"189853374"	"subst"	"0"	"03707"	"COL3A1_000140"	"g.189853374G>A"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702181"	"0"	"99"	"2"	"189853374"	"189853374"	"subst"	"0"	"03704"	"COL3A1_000140"	"g.189853374G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702182"	"0"	"97"	"2"	"189853374"	"189853375"	"delins"	"0"	"00085"	"COL3A1_000695"	"g.189853374_189853375delinsCA"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702183"	"20"	"99"	"2"	"189854122"	"189854122"	"subst"	"0"	"03704"	"COL3A1_000387"	"g.189854122G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702184"	"0"	"99"	"2"	"189854123"	"189854123"	"subst"	"0"	"00736"	"COL3A1_000333"	"g.189854123G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702185"	"0"	"99"	"2"	"189854123"	"189854123"	"subst"	"0"	"03705"	"COL3A1_000333"	"g.189854123G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702186"	"20"	"99"	"2"	"189854132"	"189854132"	"subst"	"0"	"03704"	"COL3A1_000388"	"g.189854132G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702187"	"0"	"99"	"2"	"189854132"	"189854132"	"subst"	"0"	"03704"	"COL3A1_000388"	"g.189854132G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702188"	"0"	"99"	"2"	"189854132"	"189854132"	"subst"	"0"	"00736"	"COL3A1_000281"	"g.189854132G>C"	""	"{PMID:Ferré et al., 2012:22492385}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702189"	"0"	"99"	"2"	"189854134"	"189861038"	"del"	"0"	"00085"	"COL3A1_000128"	"g.189854134_189861038del"	""	"{PMID:Lee et al., 1991:1998337}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702190"	"0"	"99"	"2"	"189854140"	"189854140"	"subst"	"0"	"03704"	"COL3A1_000012"	"g.189854140G>T"	""	"{PMID:Rossi et al., 1998:9546243} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702191"	"0"	"99"	"2"	"189854141"	"189854141"	"subst"	"0"	"03704"	"COL3A1_000390"	"g.189854141G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702192"	"0"	"99"	"2"	"189854141"	"189854141"	"subst"	"0"	"03704"	"COL3A1_000390"	"g.189854141G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702193"	"0"	"99"	"2"	"189854141"	"189854141"	"subst"	"0"	"03704"	"COL3A1_000389"	"g.189854141G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702194"	"0"	"79"	"2"	"189854150"	"189854150"	"subst"	"0"	"00475"	"COL3A1_000211"	"g.189854150G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702195"	"0"	"99"	"2"	"189854150"	"189854150"	"subst"	"0"	"00736"	"COL3A1_000211"	"g.189854150G>A"	""	"{PMID:Ferré et al., 2012:22492385}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702196"	"0"	"99"	"2"	"189854150"	"189854150"	"subst"	"0"	"03704"	"COL3A1_000211"	"g.189854150G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702197"	"0"	"99"	"2"	"189854150"	"189854150"	"subst"	"0"	"03704"	"COL3A1_000211"	"g.189854150G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702198"	"20"	"99"	"2"	"189854150"	"189854150"	"subst"	"0"	"03704"	"COL3A1_000211"	"g.189854150G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702199"	"0"	"99"	"2"	"189854150"	"189854150"	"subst"	"0"	"03707"	"COL3A1_000301"	"g.189854150G>T"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702200"	"20"	"99"	"2"	"189854150"	"189854150"	"subst"	"0"	"03704"	"COL3A1_000301"	"g.189854150G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702201"	"0"	"99"	"2"	"189854158"	"189854158"	"subst"	"0"	"00085"	"COL3A1_000696"	"g.189854158G>A"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702202"	"0"	"99"	"2"	"189854159"	"189854159"	"subst"	"0"	"00085"	"COL3A1_000259"	"g.189854159G>A"	""	"{PMID:Drera et al., 2011:22019127}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702203"	"0"	"99"	"2"	"189854159"	"189854159"	"subst"	"0"	"03704"	"COL3A1_000391"	"g.189854159G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702204"	"0"	"99"	"2"	"189854159"	"189854159"	"subst"	"0"	"03704"	"COL3A1_000013"	"g.189854159G>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702205"	"10"	"99"	"2"	"189854167"	"189854167"	"subst"	"0"	"03704"	"COL3A1_000392"	"g.189854167G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702206"	"0"	"99"	"2"	"189854168"	"189854168"	"subst"	"0"	"03704"	"COL3A1_000014"	"g.189854168G>A"	""	"{PMID:Smith et al., 1997:9036918} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702207"	"10"	"99"	"2"	"189854168"	"189854168"	"subst"	"0"	"03704"	"COL3A1_000014"	"g.189854168G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702208"	"0"	"99"	"2"	"189854176"	"189854176"	"subst"	"0"	"03704"	"COL3A1_000141"	"g.189854176G>A"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702209"	"0"	"99"	"2"	"189854176"	"189854176"	"subst"	"0"	"00736"	"COL3A1_000314"	"g.189854176G>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702210"	"0"	"99"	"2"	"189854177"	"189854177"	"subst"	"0"	"03704"	"COL3A1_000142"	"g.189854177T>A"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702211"	"0"	"99"	"2"	"189854177"	"189854177"	"subst"	"0"	"03704"	"COL3A1_000143"	"g.189854177T>G"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702212"	"0"	"99"	"2"	"189854820"	"189854820"	"subst"	"0"	"00085"	"COL3A1_000162"	"g.189854820A>G"	""	"{PMID:Giunta and Steinmann, 2000:10923041}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702213"	"0"	"99"	"2"	"189854823"	"189854823"	"subst"	"0"	"00736"	"COL3A1_000329"	"g.189854823G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702214"	"0"	"99"	"2"	"189854823"	"189854823"	"subst"	"0"	"00085"	"COL3A1_000329"	"g.189854823G>A"	""	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702215"	"10"	"99"	"2"	"189854832"	"189854832"	"subst"	"0"	"03704"	"COL3A1_000393"	"g.189854832G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702216"	"0"	"99"	"2"	"189854840"	"189854840"	"subst"	"0"	"00085"	"COL3A1_000260"	"g.189854840G>A"	""	"{PMID:Drera et al., 2011:22019127}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702217"	"0"	"99"	"2"	"189854840"	"189854840"	"subst"	"0"	"03704"	"COL3A1_000260"	"g.189854840G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702218"	"10"	"99"	"2"	"189854840"	"189854840"	"subst"	"0"	"03704"	"COL3A1_000260"	"g.189854840G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702219"	"0"	"99"	"2"	"189854840"	"189854840"	"subst"	"0"	"03704"	"COL3A1_000260"	"g.189854840G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702220"	"0"	"99"	"2"	"189854840"	"189854840"	"subst"	"0"	"03704"	"COL3A1_000260"	"g.189854840G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702221"	"0"	"99"	"2"	"189854840"	"189854840"	"subst"	"0"	"03704"	"COL3A1_000260"	"g.189854840G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702222"	"0"	"99"	"2"	"189854840"	"189854840"	"subst"	"0"	"00085"	"COL3A1_000260"	"g.189854840G>A"	""	"{PMID:Kaadan et al., 2018:29650765}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702223"	"0"	"99"	"2"	"189854849"	"189854849"	"subst"	"0"	"03704"	"COL3A1_000015"	"g.189854849G>C"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702224"	"0"	"99"	"2"	"189854850"	"189854850"	"subst"	"0"	"00085"	"COL3A1_000628"	"g.189854850G>C"	""	"{PMID:Proost et al., 2015:25907466}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702225"	"0"	"99"	"2"	"189854850"	"189854850"	"subst"	"0"	"00085"	"COL3A1_000623"	"g.189854850G>T"	""	"{PMID:Campens et al., 2015:25644172}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702226"	"0"	"77"	"2"	"189854852"	"189854852"	"subst"	"0"	"00736"	"COL3A1_000589"	"g.189854852G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702227"	"0"	"99"	"2"	"189854852"	"189854852"	"subst"	"0"	"00085"	"COL3A1_000589"	"g.189854852G>A"	""	"{PMID:Ghali et al., 2019:30837697}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702228"	"0"	"99"	"2"	"189854852"	"189854852"	"subst"	"0"	"00085"	"COL3A1_000589"	"g.189854852G>A"	""	"{PMID:Ghali et al., 2019:30837697}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702229"	"0"	"99"	"2"	"189854859"	"189854859"	"subst"	"0"	"03704"	"COL3A1_000394"	"g.189854859G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702230"	"0"	"99"	"2"	"189854859"	"189854859"	"subst"	"0"	"03704"	"COL3A1_000016"	"g.189854859G>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702231"	"0"	"99"	"2"	"189854868"	"189854868"	"subst"	"0"	"03704"	"COL3A1_000395"	"g.189854868G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702232"	"0"	"99"	"2"	"189854868"	"189854868"	"subst"	"0"	"00085"	"COL3A1_000395"	"g.189854868G>A"	""	"{PMID:Geake et al., 2014:24591672}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702233"	"0"	"99"	"2"	"189854876"	"189854876"	"subst"	"0"	"00736"	"COL3A1_000621"	"g.189854876G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702234"	"0"	"99"	"2"	"189854876"	"189854876"	"subst"	"0"	"00085"	"COL3A1_000621"	"g.189854876G>A"	""	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702235"	"0"	"99"	"2"	"0"	"0"	""	"0"	"03705"	"COL3A1_000663"	"g.?"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702236"	"0"	"99"	"2"	"189855033"	"189855033"	"subst"	"0"	"00085"	"COL3A1_000697"	"g.189855033G>A"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702237"	"0"	"99"	"2"	"189855034"	"189855034"	"subst"	"0"	"03704"	"COL3A1_000017"	"g.189855034G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702238"	"0"	"99"	"2"	"189855034"	"189855034"	"subst"	"0"	"03704"	"COL3A1_000017"	"g.189855034G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702239"	"0"	"99"	"2"	"189855034"	"189855034"	"subst"	"0"	"03704"	"COL3A1_000018"	"g.189855034G>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702240"	"21"	"99"	"2"	"189855038"	"189855038"	"delins"	"0"	"03705"	"COL3A1_000667"	"g.189855038delinsAA"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702241"	"0"	"99"	"2"	"189855042"	"189855042"	"subst"	"0"	"03704"	"COL3A1_000019"	"g.189855042G>C"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702242"	"0"	"99"	"2"	"189855043"	"189855043"	"subst"	"0"	"03704"	"COL3A1_000020"	"g.189855043G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702243"	"0"	"77"	"2"	"189855043"	"189855043"	"subst"	"0"	"00085"	"COL3A1_000020"	"g.189855043G>A"	""	"{PMID:Ohyama et al., 2011:30532829}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702244"	"0"	"99"	"2"	"189855043"	"189855043"	"subst"	"0"	"03704"	"COL3A1_000021"	"g.189855043G>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702245"	"0"	"99"	"2"	"189855043"	"189855043"	"subst"	"0"	"00085"	"COL3A1_000021"	"g.189855043G>T"	""	"{PMID:Müller et al., 2012:22038052}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702246"	"0"	"99"	"2"	"189855043"	"189855043"	"subst"	"0"	"00736"	"COL3A1_000021"	"g.189855043G>T"	""	"{PMID:Ferré et al., 2012:22492385}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702247"	"0"	"99"	"2"	"189855043"	"189855043"	"subst"	"0"	"00736"	"COL3A1_000021"	"g.189855043G>T"	""	"{PMID:Ferré et al., 2012:22492385}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702248"	"0"	"99"	"2"	"189855043"	"189855043"	"subst"	"0"	"03707"	"COL3A1_000021"	"g.189855043G>T"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702249"	"0"	"99"	"2"	"189855043"	"189855043"	"subst"	"0"	"03704"	"COL3A1_000021"	"g.189855043G>T"	""	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702250"	"0"	"99"	"2"	"189855043"	"189855043"	"subst"	"0"	"03704"	"COL3A1_000021"	"g.189855043G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702251"	"20"	"99"	"2"	"189855043"	"189855043"	"subst"	"0"	"03704"	"COL3A1_000021"	"g.189855043G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702252"	"21"	"99"	"2"	"189855043"	"189855043"	"subst"	"0"	"03704"	"COL3A1_000021"	"g.189855043G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702253"	"0"	"99"	"2"	"189855043"	"189855043"	"subst"	"0"	"03704"	"COL3A1_000021"	"g.189855043G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702254"	"0"	"99"	"2"	"189855043"	"189855043"	"subst"	"0"	"03704"	"COL3A1_000021"	"g.189855043G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702255"	"0"	"99"	"2"	"189855043"	"189855043"	"subst"	"0"	"03704"	"COL3A1_000021"	"g.189855043G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702256"	"0"	"99"	"2"	"189855043"	"189855043"	"subst"	"0"	"00736"	"COL3A1_000021"	"g.189855043G>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702257"	"0"	"99"	"2"	"189855043"	"189855043"	"subst"	"0"	"00736"	"COL3A1_000021"	"g.189855043G>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702258"	"20"	"99"	"2"	"189855052"	"189855052"	"subst"	"0"	"03704"	"COL3A1_000396"	"g.189855052G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702259"	"0"	"99"	"2"	"189855052"	"189855052"	"subst"	"0"	"00085"	"COL3A1_000022"	"g.189855052G>T"	""	"{PMID:Pepin et al., 2000:10706896}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702260"	"0"	"99"	"2"	"189855052"	"189855052"	"subst"	"0"	"03704"	"COL3A1_000022"	"g.189855052G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702261"	"0"	"99"	"2"	"189855054"	"189855054"	"del"	"0"	"03704"	"COL3A1_000232"	"g.189855054del"	""	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702262"	"0"	"99"	"2"	"189855054"	"189855054"	"del"	"0"	"03707"	"COL3A1_000232"	"g.189855054del"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702263"	"0"	"99"	"2"	"189855061"	"189855061"	"subst"	"0"	"00085"	"COL3A1_000726"	"g.189855061G>C"	""	"{PMID:Renner et al., 2019:30675029}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702264"	"0"	"99"	"2"	"189855069"	"189855069"	"subst"	"0"	"00085"	"COL3A1_000023"	"g.189855069G>A"	""	"{PMID:Lee et al., 2008:18389341}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702265"	"0"	"99"	"2"	"189855070"	"189855070"	"subst"	"0"	"03704"	"COL3A1_000397"	"g.189855070G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702266"	"0"	"99"	"2"	"189855070"	"189855070"	"subst"	"0"	"00085"	"COL3A1_000738"	"g.189855070G>T"	""	"{PMID[30919682:Henneton et al., 2019}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702267"	"0"	"99"	"2"	"189855078"	"189855078"	"subst"	"0"	"00085"	"COL3A1_000024"	"g.189855078G>A"	""	"{PMID:Giunta and Steinmann, 2000:10923041}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702268"	"10"	"99"	"2"	"189855079"	"189855079"	"subst"	"0"	"03704"	"COL3A1_000398"	"g.189855079G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702269"	"0"	"99"	"2"	"189855087"	"189855087"	"subst"	"0"	"03704"	"COL3A1_000233"	"g.189855087G>A"	""	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702270"	"0"	"97"	"2"	"189855726"	"189855735"	"del"	"0"	"00085"	"COL3A1_000698"	"g.189855726_189855735del"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702271"	"0"	"77"	"2"	"189855729"	"189855729"	"subst"	"0"	"00085"	"COL3A1_000691"	"g.189855729G>A"	""	"{PMID:Chen et al., 2019:31819605}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702272"	"20"	"99"	"2"	"189855730"	"189855730"	"subst"	"0"	"03704"	"COL3A1_000399"	"g.189855730G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702273"	"0"	"99"	"2"	"189855731"	"189855731"	"subst"	"0"	"00085"	"COL3A1_000026"	"g.189855731G>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702274"	"0"	"99"	"2"	"189855731"	"189855731"	"subst"	"0"	"00085"	"COL3A1_000026"	"g.189855731G>T"	""	"{PMID:Lipinski et al., 2009:19248182}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702275"	"0"	"99"	"2"	"189855731"	"189855731"	"subst"	"0"	"03704"	"COL3A1_000026"	"g.189855731G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702276"	"0"	"11"	"2"	"189855736"	"189855736"	"subst"	"0"	"00085"	"COL3A1_000727"	"g.189855736G>C"	""	"{PMID:Renner et al., 2019:30675029}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000702277"	"20"	"99"	"2"	"189855740"	"189855740"	"subst"	"0"	"03704"	"COL3A1_000400"	"g.189855740G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702278"	"0"	"99"	"2"	"189855742"	"189855742"	"subst"	"0"	"00736"	"COL3A1_000590"	"g.189855742C>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702279"	"0"	"99"	"2"	"189855742"	"189855742"	"subst"	"0"	"00085"	"COL3A1_000590"	"g.189855742C>T"	""	"{PMID:Campens et al., 2015:25644172}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702280"	"0"	"93"	"2"	"189855743"	"189855743"	"subst"	"0.00134179"	"00085"	"COL3A1_000230"	"g.189855743G>A"	""	"{PMID:Pickup and Pollanen, 2010:21086191}"	""	""	""	"Unknown"	""	"rs112185887"	"0"	""	""	""	""	"VUS"	""
"0000702281"	"0"	"73"	"2"	"189855743"	"189855743"	"subst"	"0.00134179"	"00736"	"COL3A1_000230"	"g.189855743G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	"rs112185887"	"0"	""	""	""	""	"VUS"	""
"0000702282"	"0"	"73"	"2"	"189855743"	"189855743"	"subst"	"0.00134179"	"00736"	"COL3A1_000230"	"g.189855743G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	"rs112185887"	"0"	""	""	""	""	"VUS"	""
"0000702283"	"0"	"55"	"2"	"189855752"	"189855752"	"subst"	"0"	"01233"	"COL3A1_000654"	"g.189855752A>G"	""	"{PMID:Overwater et al., 2018:29907982}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000702284"	"0"	"99"	"2"	"189855757"	"189855757"	"subst"	"0"	"00736"	"COL3A1_000591"	"g.189855757G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702285"	"0"	"99"	"2"	"189855757"	"189855757"	"subst"	"0"	"00736"	"COL3A1_000591"	"g.189855757G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702286"	"10"	"99"	"2"	"189855758"	"189855758"	"subst"	"0"	"03704"	"COL3A1_000401"	"g.189855758G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702287"	"0"	"99"	"2"	"189855767"	"189855767"	"subst"	"0"	"00085"	"COL3A1_000261"	"g.189855767G>A"	""	"{PMID:Drera et al., 2011:22019127}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702288"	"0"	"99"	"2"	"189855767"	"189855767"	"subst"	"0"	"00736"	"COL3A1_000261"	"g.189855767G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702289"	"10"	"99"	"2"	"189855767"	"189855767"	"subst"	"0"	"03704"	"COL3A1_000261"	"g.189855767G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702290"	"0"	"99"	"2"	"189855767"	"189855767"	"subst"	"0"	"03704"	"COL3A1_000261"	"g.189855767G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702291"	"10"	"99"	"2"	"189855767"	"189855767"	"subst"	"0"	"03704"	"COL3A1_000261"	"g.189855767G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702292"	"0"	"99"	"2"	"189855767"	"189855767"	"subst"	"0"	"03704"	"COL3A1_000261"	"g.189855767G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702293"	"0"	"99"	"2"	"189855767"	"189855767"	"subst"	"0"	"03704"	"COL3A1_000261"	"g.189855767G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702294"	"0"	"99"	"2"	"189855767"	"189855767"	"subst"	"0"	"03704"	"COL3A1_000261"	"g.189855767G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702295"	"0"	"99"	"2"	"189855767"	"189855767"	"subst"	"0"	"00736"	"COL3A1_000316"	"g.189855767G>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702296"	"0"	"99"	"2"	"189855775"	"189855775"	"subst"	"0"	"03704"	"COL3A1_000402"	"g.189855775G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702297"	"0"	"99"	"2"	"189856249"	"189856249"	"subst"	"0"	"00085"	"COL3A1_000027"	"g.189856249G>A"	""	"{PMID:Kroes et al., 2003:12694234}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702298"	"0"	"99"	"2"	"189856258"	"189856258"	"subst"	"0"	"00085"	"COL3A1_000252"	"g.189856258G>C"	""	"{PMID:Naing et al., 2011:21219851}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702299"	"0"	"79"	"2"	"189856258"	"189856258"	"subst"	"0"	"00475"	"COL3A1_000210"	"g.189856258G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702300"	"0"	"99"	"2"	"189856259"	"189856259"	"subst"	"0"	"00085"	"COL3A1_000163"	"g.189856259T>A"	""	"{PMID:Giunta and Steinmann, 2000:10923041}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702301"	"0"	"99"	"2"	"189856393"	"189856393"	"subst"	"0"	"00085"	"COL3A1_000164"	"g.189856393A>C"	""	"{PMID:Pope et al., 1996:8881656}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702302"	"0"	"99"	"2"	"189856394"	"189856394"	"subst"	"0"	"00736"	"COL3A1_000285"	"g.189856394G>C"	""	"{PMID:Ferré et al., 2012:22492385}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702303"	"0"	"99"	"2"	"189856394"	"189856394"	"subst"	"0"	"03704"	"COL3A1_000285"	"g.189856394G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702304"	"0"	"99"	"2"	"189856394"	"189856394"	"subst"	"0"	"03704"	"COL3A1_000285"	"g.189856394G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702305"	"0"	"99"	"2"	"189856394"	"189856394"	"subst"	"0"	"00085"	"COL3A1_000285"	"g.189856394G>C"	""	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702306"	"10"	"99"	"2"	"189856395"	"189856395"	"subst"	"0"	"03704"	"COL3A1_000403"	"g.189856395G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702307"	"0"	"99"	"2"	"189856396"	"189856396"	"subst"	"0"	"03704"	"COL3A1_000404"	"g.189856396G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702308"	"10"	"99"	"2"	"189856396"	"189856396"	"subst"	"0"	"03704"	"COL3A1_000405"	"g.189856396G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702309"	"0"	"99"	"2"	"189856404"	"189856404"	"subst"	"0"	"00085"	"COL3A1_000028"	"g.189856404G>A"	""	"{PMID:Tromp et al., 1993:8514866}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702310"	"0"	"99"	"2"	"189856404"	"189856404"	"subst"	"0"	"03704"	"COL3A1_000028"	"g.189856404G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702311"	"0"	"99"	"2"	"189856412"	"189856413"	"ins"	"0"	"00085"	"COL3A1_000221"	"g.189856412_189856413insGTAAGA"	""	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702312"	"0"	"99"	"2"	"189856423"	"189856423"	"subst"	"0"	"00085"	"COL3A1_000287"	"g.189856423G>A"	""	"{PMID:Moon et al., 2011:21831911}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702313"	"0"	"99"	"2"	"189856423"	"189856423"	"subst"	"0"	"03704"	"COL3A1_000287"	"g.189856423G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702314"	"0"	"99"	"2"	"189856423"	"189856423"	"subst"	"0"	"00736"	"COL3A1_000338"	"g.189856423G>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702315"	"0"	"99"	"2"	"189856423"	"189856423"	"subst"	"0"	"00085"	"COL3A1_000338"	"g.189856423G>T"	""	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702316"	"0"	"99"	"2"	"189856432"	"189856432"	"subst"	"0"	"00085"	"COL3A1_000699"	"g.189856432G>T"	""	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702317"	"0"	"99"	"2"	"189856441"	"189856441"	"subst"	"0"	"03704"	"COL3A1_000406"	"g.189856441G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702318"	"0"	"99"	"2"	"189856448"	"189856462"	"del"	"0"	"03704"	"COL3A1_000365"	"g.189856448_189856462del"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702319"	"0"	"99"	"2"	"189856449"	"189856449"	"subst"	"0"	"00736"	"COL3A1_000284"	"g.189856449G>A"	""	"{PMID:Ferré et al., 2012:22492385}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702320"	"0"	"99"	"2"	"189856449"	"189856449"	"subst"	"0"	"00085"	"COL3A1_000284"	"g.189856449G>A"	""	"{PMID:Wendorff et al., 2013:23688910}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702321"	"0"	"99"	"2"	"189856449"	"189856449"	"subst"	"0"	"00736"	"COL3A1_000284"	"g.189856449G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702322"	"20"	"99"	"2"	"189856449"	"189856449"	"subst"	"0"	"03704"	"COL3A1_000284"	"g.189856449G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702323"	"0"	"99"	"2"	"189856449"	"189856449"	"subst"	"0"	"00736"	"COL3A1_000284"	"g.189856449G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702324"	"0"	"99"	"2"	"189856450"	"189856450"	"subst"	"0"	"03704"	"COL3A1_000407"	"g.189856450T>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702325"	"0"	"97"	"2"	"189856450"	"189856450"	"subst"	"0"	"00085"	"COL3A1_000407"	"g.189856450T>A"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702326"	"0"	"99"	"2"	"189856450"	"189856450"	"subst"	"0"	"03704"	"COL3A1_000408"	"g.189856450T>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702327"	"0"	"99"	"2"	"189856451"	"189856451"	"subst"	"0"	"03704"	"COL3A1_000144"	"g.189856451G>T"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702328"	"0"	"99"	"2"	"189856452"	"189856453"	"del"	"0"	"03704"	"COL3A1_000409"	"g.189856452_189856453del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	"951+3_+4del"	""	"Unknown"	""	""	"0"	""	""	"g.188991726_188991727del"	""	"pathogenic"	""
"0000702329"	"0"	"99"	"2"	"189856452"	"189856452"	"subst"	"0"	"00736"	"COL3A1_000328"	"g.189856452A>G"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702330"	"10"	"99"	"2"	"189856452"	"189856452"	"subst"	"0"	"03704"	"COL3A1_000410"	"g.189856452A>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702331"	"0"	"99"	"2"	"189856453"	"189856453"	"subst"	"0"	"03704"	"COL3A1_000411"	"g.189856453G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702332"	"0"	"99"	"2"	"189856453"	"189856453"	"subst"	"0"	"03704"	"COL3A1_000411"	"g.189856453G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702333"	"0"	"99"	"2"	"189856453"	"189856453"	"subst"	"0"	"00085"	"COL3A1_000677"	"g.189856453G>C"	""	"{PMID:Koitabashi et al., 2018:30158381}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702334"	"10"	"99"	"2"	"189856454"	"189856454"	"subst"	"0"	"03704"	"COL3A1_000412"	"g.189856454T>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702335"	"0"	"99"	"2"	"189856454"	"189856454"	"subst"	"0"	"03704"	"COL3A1_000412"	"g.189856454T>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702336"	"0"	"99"	"2"	"189856454"	"189856454"	"subst"	"0"	"03704"	"COL3A1_000412"	"g.189856454T>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702337"	"0"	"99"	"2"	"189856454"	"189856454"	"subst"	"0"	"00085"	"COL3A1_000262"	"g.189856454T>C"	""	"{PMID:Drera et al., 2011:22019127}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702338"	"0"	"99"	"2"	"189856454"	"189856454"	"subst"	"0"	"00736"	"COL3A1_000262"	"g.189856454T>C"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702339"	"0"	"99"	"2"	"189856454"	"189856454"	"subst"	"0"	"03704"	"COL3A1_000262"	"g.189856454T>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702340"	"0"	"99"	"2"	"189856804"	"189856999"	"delins"	"0"	"00736"	"COL3A1_000283"	"g.189856804_189856999delinsGCTTAA"	""	"{PMID:Ferré et al., 2012:22492385}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702341"	"11"	"99"	"2"	"189857611"	"189857611"	"subst"	"0"	"03707"	"COL3A1_000310"	"g.189857611A>G"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702342"	"11"	"99"	"2"	"189857611"	"189857611"	"subst"	"0"	"03704"	"COL3A1_000310"	"g.189857611A>G"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702343"	"21"	"99"	"2"	"189856911"	"189856911"	"subst"	"0"	"00085"	"COL3A1_000645"	"g.189856911G>A"	""	"{PMID:Makrygiannis et al., 2015:26497932}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702344"	"0"	"99"	"2"	"189856913"	"189856932"	"delins"	"0"	"03704"	"COL3A1_000234"	"g.189856913_189856932delinsTTTACATCGAGGGTTTTAAAGTTTACA"	""	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702345"	"11"	"99"	"2"	"189856920"	"189856920"	"subst"	"0"	"03704"	"COL3A1_000413"	"g.189856920G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702346"	"0"	"99"	"2"	"189856920"	"189856920"	"subst"	"0"	"03704"	"COL3A1_000029"	"g.189856920G>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702347"	"0"	"99"	"2"	"189856928"	"189856928"	"subst"	"0"	"00085"	"COL3A1_000030"	"g.189856928G>A"	""	"{PMID:Martin et al., 2006:17053184}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702348"	"0"	"79"	"2"	"189856928"	"189856928"	"subst"	"0"	"00475"	"COL3A1_000030"	"g.189856928G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702349"	"0"	"79"	"2"	"189856928"	"189856928"	"subst"	"0"	"00475"	"COL3A1_000030"	"g.189856928G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702350"	"10"	"99"	"2"	"189856928"	"189856928"	"subst"	"0"	"00085"	"COL3A1_000030"	"g.189856928G>A"	""	"{PMID:Rebelo et al., 2012:22713205}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702351"	"0"	"99"	"2"	"189856928"	"189856928"	"subst"	"0"	"00085"	"COL3A1_000030"	"g.189856928G>A"	""	"{PMID:Ellis et al., 2012:23234825}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702352"	"20"	"99"	"2"	"189856928"	"189856928"	"subst"	"0"	"03704"	"COL3A1_000030"	"g.189856928G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702353"	"20"	"99"	"2"	"189856928"	"189856928"	"subst"	"0"	"03704"	"COL3A1_000030"	"g.189856928G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702354"	"0"	"99"	"2"	"189856928"	"189856928"	"subst"	"0"	"03704"	"COL3A1_000030"	"g.189856928G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702355"	"0"	"99"	"2"	"189856928"	"189856928"	"subst"	"0"	"00736"	"COL3A1_000030"	"g.189856928G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702356"	"0"	"79"	"2"	"189856928"	"189856928"	"subst"	"0"	"00085"	"COL3A1_000030"	"g.189856928G>A"	""	"{PMID:Grond-Ginsbach et al., 2017:31008308}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702357"	"0"	"99"	"2"	"189856929"	"189856929"	"subst"	"0"	"01233"	"COL3A1_000650"	"g.189856929G>A"	""	"{PMID:Overwater et al., 2018:29907982}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702358"	"0"	"11"	"2"	"189856931"	"189856931"	"subst"	"0"	"00085"	"COL3A1_000752"	"g.189856931G>T"	""	"{PMID:Busch et al., 2016:27488172}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000702359"	"0"	"99"	"2"	"189856934"	"189856934"	"subst"	"0"	"03704"	"COL3A1_000414"	"g.189856934C>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702360"	"0"	"33"	"2"	"189856935"	"189856935"	"subst"	"8.12367E-6"	"00085"	"COL3A1_000642"	"g.189856935G>A"	""	"{PMID:Haller et al., 2015:26333736}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"benign"	""
"0000702361"	"0"	"99"	"2"	"189856938"	"189856938"	"subst"	"0"	"00085"	"COL3A1_000025"	"g.189856938G>A"	""	"{PMID:Giunta and Steinmann, 2000:10923041}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702362"	"0"	"99"	"2"	"189856938"	"189856938"	"subst"	"0"	"00085"	"COL3A1_000025"	"g.189856938G>A"	""	"{PMID:Baas et al., 2017:28102592}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702363"	"0"	"99"	"2"	"189856955"	"189856955"	"subst"	"0"	"00736"	"COL3A1_000335"	"g.189856955G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702364"	"0"	"99"	"2"	"189856955"	"189856955"	"subst"	"0"	"03704"	"COL3A1_000335"	"g.189856955G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702365"	"0"	"99"	"2"	"189856956"	"189856956"	"subst"	"0"	"03704"	"COL3A1_000415"	"g.189856956T>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702366"	"0"	"99"	"2"	"189856959"	"189856962"	"del"	"0"	"00736"	"COL3A1_000345"	"g.189856959_189856962del"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702367"	"0"	"99"	"2"	"189857603"	"189857603"	"subst"	"0"	"03704"	"COL3A1_000416"	"g.189857603A>G"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702368"	"0"	"97"	"2"	"189857612"	"189857612"	"subst"	"0"	"00085"	"COL3A1_000701"	"g.189857612G>A"	""	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702369"	"0"	"99"	"2"	"189857612"	"189857612"	"subst"	"0"	"03704"	"COL3A1_000417"	"g.189857612G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702370"	"0"	"99"	"2"	"189857614"	"189857614"	"subst"	"0"	"03704"	"COL3A1_000418"	"g.189857614G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702371"	"0"	"99"	"2"	"189857614"	"189857614"	"subst"	"0"	"03704"	"COL3A1_000418"	"g.189857614G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702372"	"0"	"99"	"2"	"189857649"	"189857649"	"subst"	"0"	"03704"	"COL3A1_000031"	"g.189857649G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702373"	"0"	"99"	"2"	"189857649"	"189857649"	"subst"	"0"	"03707"	"COL3A1_000031"	"g.189857649G>A"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702374"	"0"	"99"	"2"	"189857667"	"189857667"	"subst"	"0"	"00085"	"COL3A1_000165"	"g.189857667G>A"	""	"{PMID:Kuivaniemi et al., 1990:2365710}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702375"	"0"	"99"	"2"	"189857667"	"189857667"	"subst"	"0"	"00085"	"COL3A1_000165"	"g.189857667G>A"	""	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702376"	"0"	"79"	"2"	"189857667"	"189857667"	"subst"	"0"	"00085"	"COL3A1_000165"	"g.189857667G>A"	""	"{PMID:Busch et al., 2016:27488172}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702377"	"0"	"99"	"2"	"189858087"	"189858087"	"subst"	"0"	"00085"	"COL3A1_000702"	"g.189858087G>C"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702378"	"0"	"99"	"2"	"189858088"	"189858088"	"subst"	"0"	"03704"	"COL3A1_000419"	"g.189858088G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702379"	"20"	"99"	"2"	"189858104"	"189858105"	"ins"	"0"	"03704"	"COL3A1_000420"	"g.189858104_189858105insGACCCTGCA"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702380"	"0"	"99"	"2"	"189858123"	"189858123"	"subst"	"0"	"03704"	"COL3A1_000421"	"g.189858123G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702381"	"0"	"99"	"2"	"189858132"	"189858132"	"subst"	"0"	"03704"	"COL3A1_000422"	"g.189858132G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702382"	"20"	"99"	"2"	"189858135"	"189858152"	"del"	"0"	"03704"	"COL3A1_000423"	"g.189858135_189858152del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702383"	"0"	"99"	"2"	"189857034"	"189857034"	"del"	"0"	"03704"	"COL3A1_000424"	"g.189857034del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702384"	"0"	"99"	"2"	"189858142"	"189858142"	"subst"	"0"	"00736"	"COL3A1_000347"	"g.189858142G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702385"	"0"	"59"	"2"	"189858142"	"189858144"	"del"	"0"	"03707"	"COL3A1_000307"	"g.189858142_189858144del"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702386"	"0"	"99"	"2"	"189858142"	"189858144"	"del"	"0"	"03704"	"COL3A1_000307"	"g.189858142_189858144del"	""	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702387"	"21"	"99"	"2"	"189858151"	"189858151"	"subst"	"0"	"03704"	"COL3A1_000425"	"g.189858151G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702388"	"10"	"99"	"2"	"189858160"	"189858160"	"subst"	"0"	"03704"	"COL3A1_000426"	"g.189858160G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702389"	"0"	"99"	"2"	"189858169"	"189858169"	"subst"	"0"	"00085"	"COL3A1_000692"	"g.189858169G>A"	""	"{PMID:Wolford et al., 2019:31211624}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702390"	"0"	"99"	"2"	"189858178"	"189858178"	"subst"	"0"	"03704"	"COL3A1_000427"	"g.189858178G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702391"	"0"	"99"	"2"	"189858186"	"189858186"	"subst"	"0"	"00085"	"COL3A1_000145"	"g.189858186G>A"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702392"	"0"	"99"	"2"	"189858186"	"189858186"	"subst"	"0"	"00736"	"COL3A1_000145"	"g.189858186G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702393"	"0"	"99"	"2"	"189858186"	"189858186"	"subst"	"0"	"03704"	"COL3A1_000428"	"g.189858186G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702394"	"0"	"99"	"2"	"189858187"	"189858187"	"subst"	"0"	"03707"	"COL3A1_000304"	"g.189858187T>C"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702395"	"0"	"99"	"2"	"189858187"	"189858187"	"subst"	"0"	"00085"	"COL3A1_000168"	"g.189858187T>G"	""	"{PMID:Chiodo et al., 1995:7487954}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702396"	"0"	"99"	"2"	"189858187"	"189858188"	"delins"	"0"	"00085"	"COL3A1_000169"	"g.189858187_189858188delinsAG"	""	"{PMID:Giunta and Steinmann, 2000:10923041}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702397"	"0"	"99"	"2"	"189858190"	"189858190"	"subst"	"0"	"03704"	"COL3A1_000429"	"g.189858190G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702398"	"0"	"97"	"2"	"189858758"	"189858762"	"delins"	"0"	"00085"	"COL3A1_000703"	"g.189858758_189858762delinsTG"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702399"	"0"	"99"	"2"	"189858762"	"189858762"	"subst"	"0"	"03711"	"COL3A1_000637"	"g.189858762A>T"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702400"	"0"	"99"	"2"	"189858763"	"189858763"	"subst"	"0"	"00085"	"COL3A1_000146"	"g.189858763G>C"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702401"	"0"	"99"	"2"	"0"	"0"	"delins"	"0"	"03704"	"COL3A1_000366"	"g.?"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702402"	"0"	"99"	"2"	"189858765"	"189858765"	"subst"	"0"	"00085"	"COL3A1_000216"	"g.189858765G>A"	""	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702403"	"0"	"99"	"2"	"189858773"	"189858773"	"subst"	"0"	"00085"	"COL3A1_000032"	"g.189858773G>T"	""	"{PMID:Watanabe et al., 2007:17251678}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702404"	"0"	"37"	"2"	"189858779"	"189858779"	"subst"	"0.000101557"	"00736"	"COL3A1_000592"	"g.189858779A>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702405"	"0"	"37"	"2"	"189858779"	"189858779"	"subst"	"0.000101557"	"00736"	"COL3A1_000592"	"g.189858779A>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702406"	"0"	"99"	"2"	"189858791"	"189858791"	"subst"	"0"	"00085"	"COL3A1_000704"	"g.189858791G>A"	""	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702407"	"0"	"79"	"2"	"189858792"	"189858792"	"subst"	"0"	"00085"	"COL3A1_000740"	"g.189858792G>A"	""	"{PMID:Weerakkody et al., 2018:29543232}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702408"	"0"	"99"	"2"	"189858801"	"189858801"	"subst"	"0"	"00736"	"COL3A1_000326"	"g.189858801G>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702409"	"20"	"99"	"2"	"189858803"	"189858831"	"del"	"0"	"03704"	"COL3A1_000430"	"g.189858803_189858831del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702410"	"0"	"99"	"2"	"189858809"	"189858809"	"subst"	"0"	"00736"	"COL3A1_000312"	"g.189858809G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702411"	"0"	"99"	"2"	"189858809"	"189858809"	"subst"	"0"	"03704"	"COL3A1_000312"	"g.189858809G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702412"	"0"	"99"	"2"	"189858809"	"189858809"	"subst"	"0"	"03704"	"COL3A1_000312"	"g.189858809G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702413"	"0"	"99"	"2"	"189858809"	"189858809"	"subst"	"0"	"03704"	"COL3A1_000431"	"g.189858809G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702414"	"0"	"97"	"2"	"189858810"	"189858810"	"subst"	"0"	"00085"	"COL3A1_000705"	"g.189858810T>A"	""	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702415"	"0"	"11"	"2"	"189858966"	"189858966"	"subst"	"8.12975E-6"	"00085"	"COL3A1_000728"	"g.189858966G>A"	""	"{PMID:Renner et al., 2019:30675029}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000702416"	"0"	"79"	"2"	"189858969"	"189858969"	"subst"	"0"	"00085"	"COL3A1_000741"	"g.189858969G>A"	""	"{PMID:Weerakkody et al., 2018:29543232}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702417"	"0"	"99"	"2"	"189858988"	"189858988"	"subst"	"0"	"03702"	"COL3A1_000033"	"g.189858988G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702418"	"20"	"99"	"2"	"189858996"	"189858996"	"subst"	"0"	"03704"	"COL3A1_000432"	"g.189858996G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702419"	"0"	"99"	"2"	"189859005"	"189859005"	"subst"	"0"	"03704"	"COL3A1_000433"	"g.189859005G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702420"	"0"	"99"	"2"	"189859006"	"189859006"	"subst"	"0"	"00736"	"COL3A1_000280"	"g.189859006G>T"	""	"{PMID:Ferré et al., 2012:22492385}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702421"	"0"	"79"	"2"	"189859006"	"189859006"	"subst"	"0"	"00085"	"COL3A1_000280"	"g.189859006G>T"	""	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702422"	"0"	"99"	"2"	"189859014"	"189859014"	"subst"	"0"	"00085"	"COL3A1_000034"	"g.189859014G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702423"	"0"	"99"	"2"	"189859015"	"189859015"	"subst"	"0"	"00085"	"COL3A1_000706"	"g.189859015G>A"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702424"	"0"	"11"	"2"	"189859022"	"189859022"	"subst"	"0.0043169"	"00085"	"COL3A1_000184"	"g.189859022C>T"	""	"{PMID:Chan et al., 2008:18272325}"	""	""	""	"Unknown"	""	"rs41272837"	"0"	""	""	""	""	"likely benign"	""
"0000702425"	"0"	"99"	"2"	"189859023"	"189859023"	"subst"	"0"	"00085"	"COL3A1_000228"	"g.189859023G>A"	""	"{PMID:Pickup and Pollanen, 2010:21086191}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702426"	"0"	"99"	"2"	"189859023"	"189859023"	"subst"	"0"	"03704"	"COL3A1_000228"	"g.189859023G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702427"	"0"	"99"	"2"	"189859023"	"189859023"	"subst"	"0"	"03704"	"COL3A1_000228"	"g.189859023G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702428"	"0"	"71"	"2"	"189859023"	"189859023"	"subst"	"0"	"00085"	"COL3A1_000228"	"g.189859023G>A"	""	"{PMID:Wang et al., 2018:30115950}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000702429"	"0"	"19"	"2"	"189859023"	"189859023"	"subst"	"0"	"00085"	"COL3A1_000754"	"g.189859023G>C"	""	"{PMID:Busch et al., 2016:27488172}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702430"	"11"	"99"	"2"	"189859032"	"189859032"	"subst"	"0"	"03704"	"COL3A1_000434"	"g.189859032G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702431"	"0"	"99"	"2"	"189859033"	"189859033"	"subst"	"0"	"03704"	"COL3A1_000435"	"g.189859033G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702432"	"11"	"75"	"2"	"189859047"	"189859047"	"subst"	"0"	"00085"	"COL3A1_000680"	"g.189859047C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000702433"	"0"	"97"	"2"	"189859060"	"189859060"	"dup"	"0"	"00085"	"COL3A1_000707"	"g.189859060dup"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702434"	"0"	"99"	"2"	"189859264"	"189859264"	"subst"	"0"	"03704"	"COL3A1_000367"	"g.189859264T>G"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702435"	"0"	"99"	"2"	"189859265"	"189859265"	"subst"	"0"	"00736"	"COL3A1_000331"	"g.189859265A>G"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702436"	"0"	"99"	"2"	"189859277"	"189859277"	"subst"	"0"	"00736"	"COL3A1_000339"	"g.189859277G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702437"	"0"	"99"	"2"	"189859277"	"189859277"	"subst"	"0"	"00085"	"COL3A1_000339"	"g.189859277G>A"	""	"{PMID:Callaghan et al., 2019:31833208}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702438"	"21"	"97"	"2"	"189859295"	"189859295"	"del"	"0"	"00085"	"COL3A1_000676"	"g.189859295del"	""	"{PMID:Wu et al., 2018:30025171}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702439"	"0"	"99"	"2"	"189859303"	"189859303"	"subst"	"0"	"03704"	"COL3A1_000035"	"g.189859303G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702440"	"0"	"99"	"2"	"189859303"	"189859303"	"subst"	"0"	"00085"	"COL3A1_000035"	"g.189859303G>A"	""	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702441"	"0"	"99"	"2"	"189859303"	"189859303"	"subst"	"0"	"00736"	"COL3A1_000035"	"g.189859303G>A"	""	"{PMID:Ferré et al., 2012:22492385}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702442"	"0"	"99"	"2"	"189859303"	"189859303"	"subst"	"0"	"03704"	"COL3A1_000035"	"g.189859303G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702443"	"10"	"99"	"2"	"189859303"	"189859303"	"subst"	"0"	"03704"	"COL3A1_000035"	"g.189859303G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702444"	"10"	"99"	"2"	"189859303"	"189859303"	"subst"	"0"	"03704"	"COL3A1_000035"	"g.189859303G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702445"	"20"	"99"	"2"	"189859303"	"189859303"	"subst"	"0"	"03704"	"COL3A1_000035"	"g.189859303G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702446"	"0"	"99"	"2"	"189859303"	"189859303"	"subst"	"0"	"03704"	"COL3A1_000436"	"g.189859303G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702447"	"0"	"97"	"2"	"189859321"	"189859321"	"del"	"0"	"00085"	"COL3A1_000679"	"g.189859321del"	""	"{PMID:Hicks et al., 2018:29510914}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702448"	"0"	"99"	"2"	"189859321"	"189859321"	"subst"	"0"	"00085"	"COL3A1_000166"	"g.189859321G>A"	""	"{PMID:Kontussaari et al., 1990:2349939}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702449"	"0"	"99"	"2"	"189859321"	"189859321"	"subst"	"0"	"00085"	"COL3A1_000166"	"g.189859321G>A"	""	"Goldstein et al., 1994 Matrix Biol 14:392-393 {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702450"	"0"	"99"	"2"	"189859321"	"189859321"	"subst"	"0"	"00085"	"COL3A1_000166"	"g.189859321G>A"	""	"{PMID:Anderson et al., 1997:9143932}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702451"	"0"	"99"	"2"	"189859321"	"189859321"	"subst"	"0"	"00085"	"COL3A1_000166"	"g.189859321G>A"	""	"{PMID:Watanabe et al., 2007:17251678}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702452"	"0"	"99"	"2"	"189859321"	"189859321"	"subst"	"0"	"00085"	"COL3A1_000166"	"g.189859321G>A"	""	"{PMID:Drera et al., 2011:22019127}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702453"	"0"	"99"	"2"	"189859321"	"189859321"	"subst"	"0"	"00736"	"COL3A1_000166"	"g.189859321G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702454"	"0"	"99"	"2"	"189859321"	"189859321"	"subst"	"0"	"03704"	"COL3A1_000166"	"g.189859321G>A"	""	"Goldstein et al., 1994 Matrix Biol 14:392-393 {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702455"	"20"	"99"	"2"	"189859321"	"189859321"	"subst"	"0"	"03704"	"COL3A1_000166"	"g.189859321G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702456"	"0"	"99"	"2"	"189859321"	"189859321"	"subst"	"0"	"03704"	"COL3A1_000166"	"g.189859321G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702457"	"10"	"99"	"2"	"189859321"	"189859321"	"subst"	"0"	"03704"	"COL3A1_000166"	"g.189859321G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702458"	"0"	"99"	"2"	"189859321"	"189859321"	"subst"	"0"	"03704"	"COL3A1_000166"	"g.189859321G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702459"	"0"	"99"	"2"	"189859321"	"189859321"	"subst"	"0"	"03704"	"COL3A1_000166"	"g.189859321G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702460"	"0"	"99"	"2"	"189859321"	"189859321"	"subst"	"0"	"03704"	"COL3A1_000166"	"g.189859321G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702461"	"0"	"99"	"2"	"189859321"	"189859321"	"subst"	"0"	"00736"	"COL3A1_000166"	"g.189859321G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702462"	"0"	"99"	"2"	"189859321"	"189859321"	"subst"	"0"	"00736"	"COL3A1_000166"	"g.189859321G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702463"	"0"	"97"	"2"	"189859321"	"189859321"	"subst"	"0"	"00085"	"COL3A1_000166"	"g.189859321G>A"	""	"{PMID:Samaraweera et al., 2016:27462043}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702464"	"0"	"79"	"2"	"189859321"	"189859321"	"subst"	"0"	"00085"	"COL3A1_000166"	"g.189859321G>A"	""	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702465"	"0"	"79"	"2"	"189859321"	"189859321"	"subst"	"0"	"00085"	"COL3A1_000166"	"g.189859321G>A"	""	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702466"	"0"	"99"	"2"	"189859321"	"189859321"	"subst"	"0"	"03707"	"COL3A1_000303"	"g.189859321G>C"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702467"	"0"	"99"	"2"	"189859321"	"189859321"	"subst"	"0"	"03704"	"COL3A1_000166"	"g.189859321G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702468"	"10"	"99"	"2"	"189859323"	"189859323"	"subst"	"0"	"03704"	"COL3A1_000437"	"g.189859323A>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702469"	"0"	"99"	"2"	"189859325"	"189859325"	"subst"	"0"	"03704"	"COL3A1_000438"	"g.189859325G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702470"	"0"	"55"	"2"	"189859422"	"189859422"	"subst"	"0"	"00085"	"COL3A1_000731"	"g.189859422T>G"	""	"{PMID:Renner et al., 2019:30675029}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000702471"	"0"	"97"	"2"	"189859448"	"189859448"	"subst"	"0"	"00085"	"COL3A1_000708"	"g.189859448A>G"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702472"	"0"	"75"	"2"	"189859448"	"189859448"	"subst"	"0"	"00085"	"COL3A1_000708"	"g.189859448A>G"	""	"{PMID:Konieczynska et al., 2019:31575845}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000702473"	"20"	"99"	"2"	"189859451"	"189859451"	"subst"	"0"	"03705"	"COL3A1_000666"	"g.189859451G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702474"	"0"	"99"	"2"	"189859460"	"189859460"	"subst"	"0"	"00085"	"COL3A1_000036"	"g.189859460G>A"	""	"{PMID:Hassan et al., 2002:12173720}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702475"	"0"	"99"	"2"	"189859460"	"189859460"	"subst"	"0"	"00736"	"COL3A1_000036"	"g.189859460G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702476"	"0"	"99"	"2"	"189859460"	"189859460"	"subst"	"0"	"03704"	"COL3A1_000036"	"g.189859460G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702477"	"0"	"99"	"2"	"189859486"	"189859486"	"subst"	"0"	"03704"	"COL3A1_000439"	"g.189859486G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702478"	"0"	"99"	"2"	"189859512"	"189859512"	"del"	"0"	"03704"	"COL3A1_000235"	"g.189859512del"	""	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702479"	"0"	"97"	"2"	"189859546"	"189859546"	"subst"	"0"	"00085"	"COL3A1_000737"	"g.189859546G>T"	""	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702480"	"0"	"75"	"2"	"189859558"	"189859558"	"subst"	"0"	"00085"	"COL3A1_000739"	"g.189859558G>T"	""	"{PMID:Konieczynska et al., 2019:31575845}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000702481"	"0"	"99"	"2"	"189859690"	"189863222"	"del"	"0"	"03704"	"COL3A1_000440"	"g.189859690_189863222del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.188994964_188998496del"	""	"pathogenic"	""
"0000702482"	"0"	"99"	"2"	"189859759"	"189859815"	"del"	"0"	"00085"	"COL3A1_000130"	"g.189859759_189859815del"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702483"	"20"	"99"	"2"	"189859762"	"189859762"	"subst"	"0"	"03704"	"COL3A1_000441"	"g.189859762T>G"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702484"	"0"	"99"	"2"	"189859773"	"189859773"	"subst"	"0"	"00736"	"COL3A1_000593"	"g.189859773G>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702485"	"0"	"99"	"2"	"189859782"	"189859782"	"subst"	"0"	"03704"	"COL3A1_000037"	"g.189859782G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702486"	"0"	"99"	"2"	"189859782"	"189859782"	"subst"	"0"	"00736"	"COL3A1_000037"	"g.189859782G>A"	""	"{PMID:Perdu et al., 2006:17159712}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702487"	"0"	"99"	"2"	"189859782"	"189859782"	"subst"	"0"	"03705"	"COL3A1_000661"	"g.189859782G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702488"	"0"	"99"	"2"	"189859782"	"189859782"	"subst"	"0"	"00085"	"COL3A1_000661"	"g.189859782G>T"	""	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702489"	"10"	"99"	"2"	"189859787"	"189859787"	"subst"	"0"	"00085"	"COL3A1_000639"	"g.189859787C>T"	""	"{PMID:van de Luijtgaarden et al., 2015:26017485}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702490"	"21"	"55"	"2"	"189859788"	"189859788"	"subst"	"1.21909E-5"	"01233"	"COL3A1_000655"	"g.189859788G>A"	""	"{PMID:Overwater et al., 2018:29907982}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000702491"	"0"	"99"	"2"	"189859790"	"189859790"	"subst"	"0"	"00085"	"COL3A1_000263"	"g.189859790G>A"	""	"{PMID:Drera et al., 2011:22019127}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702492"	"0"	"99"	"2"	"189859791"	"189859791"	"subst"	"0"	"03704"	"COL3A1_000442"	"g.189859791G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702493"	"10"	"99"	"2"	"189859791"	"189859791"	"subst"	"0"	"03704"	"COL3A1_000443"	"g.189859791G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702494"	"0"	"79"	"2"	"189859809"	"189859809"	"subst"	"0"	"03712"	"COL3A1_000641"	"g.189859809G>A"	""	"{PMID:Cortini et al., 2016:27799058}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702495"	"0"	"99"	"2"	"189859817"	"189859817"	"subst"	"0"	"03704"	"COL3A1_000038"	"g.189859817G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702496"	"0"	"99"	"2"	"189859817"	"189859817"	"subst"	"0"	"03707"	"COL3A1_000038"	"g.189859817G>A"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702497"	"0"	"99"	"2"	"189859817"	"189859817"	"subst"	"0"	"00085"	"COL3A1_000038"	"g.189859817G>A"	""	"{PMID:Kelly et al., 2014:25422335}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702498"	"0"	"99"	"2"	"189859818"	"189859818"	"subst"	"0"	"00085"	"COL3A1_000256"	"g.189859818G>C"	""	"{PMID:Müller et al., 2012:22038052}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702499"	"0"	"99"	"2"	"0"	"0"	"delins"	"0"	"03704"	"COL3A1_000582"	"g.?"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702500"	"0"	"99"	"2"	"189860419"	"189860419"	"subst"	"0"	"00085"	"COL3A1_000217"	"g.189860419G>A"	""	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702501"	"0"	"99"	"2"	"189860419"	"189860419"	"subst"	"0"	"00085"	"COL3A1_000217"	"g.189860419G>A"	""	"{PMID:Nakagawa et al., 2015:26666608}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702502"	"0"	"99"	"2"	"189860419"	"189860419"	"subst"	"0"	"00736"	"COL3A1_000343"	"g.189860419G>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702503"	"20"	"99"	"2"	"189860419"	"189860419"	"subst"	"0"	"03704"	"COL3A1_000343"	"g.189860419G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702504"	"0"	"99"	"2"	"189860446"	"189860485"	"del"	"0"	"00085"	"COL3A1_000669"	"g.189860446_189860485del"	""	"{PMID:Yagyu et al., 2019:31080229}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702505"	"0"	"99"	"2"	"189860454"	"189860454"	"subst"	"0"	"00085"	"COL3A1_000709"	"g.189860454G>C"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702506"	"0"	"77"	"2"	"189860457"	"189860457"	"subst"	"0"	"00085"	"COL3A1_000734"	"g.189860457C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702507"	"0"	"33"	"2"	"189860458"	"189860458"	"subst"	"0.00017034"	"00085"	"COL3A1_000269"	"g.189860458C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"benign"	""
"0000702508"	"0"	"99"	"2"	"189860463"	"189860464"	"delins"	"0"	"00085"	"COL3A1_000710"	"g.189860463_189860464delinsTT"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702509"	"0"	"99"	"2"	"189860464"	"189860464"	"subst"	"0"	"03704"	"COL3A1_000039"	"g.189860464G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702510"	"20"	"99"	"2"	"189860464"	"189860464"	"subst"	"0"	"03704"	"COL3A1_000039"	"g.189860464G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702511"	"0"	"77"	"2"	"189860505"	"189860505"	"subst"	"0"	"00085"	"COL3A1_000735"	"g.189860505C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702512"	"0"	"59"	"2"	"189860509"	"189860509"	"subst"	"0"	"00085"	"COL3A1_000195"	"g.189860509G>A"	""	""	""	""	""	"Unknown"	""	"rs41263744"	"0"	""	""	""	""	"pathogenic"	""
"0000702513"	"0"	"99"	"2"	"189860843"	"189860861"	"del"	"0"	"00736"	"COL3A1_000315"	"g.189860843_189860861del"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702514"	"10"	"99"	"2"	"189860852"	"189860852"	"del"	"0"	"03704"	"COL3A1_000444"	"g.189860852del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702515"	"0"	"99"	"2"	"189860860"	"189860860"	"subst"	"0"	"03704"	"COL3A1_000040"	"g.189860860G>A"	""	"{PMID:Smith et al., 1997:9036918} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702516"	"0"	"99"	"2"	"189860860"	"189860860"	"subst"	"0"	"03704"	"COL3A1_000040"	"g.189860860G>A"	""	"{PMID:Smith et al., 1997:9036918} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702517"	"0"	"99"	"2"	"189860860"	"189860860"	"subst"	"0"	"03707"	"COL3A1_000040"	"g.189860860G>A"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702518"	"0"	"99"	"2"	"189860860"	"189860860"	"subst"	"0"	"00736"	"COL3A1_000040"	"g.189860860G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702519"	"0"	"99"	"2"	"189860860"	"189860860"	"subst"	"0"	"00736"	"COL3A1_000040"	"g.189860860G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702520"	"0"	"99"	"2"	"189860860"	"189860860"	"subst"	"0"	"03704"	"COL3A1_000040"	"g.189860860G>A"	""	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702521"	"0"	"99"	"2"	"189860860"	"189860860"	"subst"	"0"	"03704"	"COL3A1_000040"	"g.189860860G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702522"	"0"	"99"	"2"	"189860860"	"189860860"	"subst"	"0"	"03704"	"COL3A1_000040"	"g.189860860G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702523"	"20"	"99"	"2"	"189860860"	"189860860"	"subst"	"0"	"03704"	"COL3A1_000040"	"g.189860860G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702524"	"0"	"99"	"2"	"189860860"	"189860860"	"subst"	"0"	"03704"	"COL3A1_000040"	"g.189860860G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702525"	"0"	"99"	"2"	"189860860"	"189860860"	"subst"	"0"	"00085"	"COL3A1_000040"	"g.189860860G>A"	""	"{PMID:Debette et al., 2014:25355833}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702526"	"0"	"99"	"2"	"189860888"	"189860888"	"subst"	"0"	"03704"	"COL3A1_000041"	"g.189860888G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702527"	"0"	"99"	"2"	"189860896"	"189860896"	"subst"	"0"	"00736"	"COL3A1_000342"	"g.189860896G>C"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702528"	"0"	"99"	"2"	"189860897"	"189860897"	"subst"	"0"	"03704"	"COL3A1_000042"	"g.189860897G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702529"	"0"	"99"	"2"	"189860897"	"189860897"	"subst"	"0"	"03704"	"COL3A1_000042"	"g.189860897G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702530"	"0"	"99"	"2"	"189860897"	"189860897"	"subst"	"0"	"00085"	"COL3A1_000042"	"g.189860897G>A"	""	"{PMID:Drera et al., 2011:22019127}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702531"	"0"	"11"	"2"	"189860901"	"189860901"	"subst"	"0.000918206"	"00085"	"COL3A1_000185"	"g.189860901T>A"	""	"{PMID:Chan et al., 2008:18272325}"	""	""	""	"Unknown"	""	"rs41263751"	"0"	""	""	""	""	"likely benign"	""
"0000702532"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702533"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702534"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702535"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702536"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"00085"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pope et al., 1996:8881656}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702537"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"00085"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pope et al., 1996:8881656}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702538"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702539"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702540"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702541"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"00085"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702542"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"00085"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702543"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"00085"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702544"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"00085"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Omori et al., 2011:21533953}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702545"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"00085"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Naing et al., 2011:21219851}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702546"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"00085"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Naing et al., 2011:21219851}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702547"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"00736"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Ferré et al., 2012:22492385}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702548"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"00736"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Ferré et al., 2012:22492385}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702549"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"00736"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702550"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702551"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702552"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"00085"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Kim et al., 2014:24653803}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702553"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702554"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702555"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702556"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702557"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702558"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702559"	"20"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702560"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702561"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702562"	"20"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702563"	"10"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702564"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702565"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702566"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702567"	"10"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702568"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702569"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702570"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702571"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702572"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702573"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702574"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702575"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702576"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03704"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702577"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"00736"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702578"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"00736"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702579"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"00736"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702580"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"00736"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702581"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03711"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702582"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"03711"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702583"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"00085"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Yasuda et al., 2014:25293415}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702584"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"0"	"00736"	"COL3A1_000355"	"g.189860905G>C"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702585"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"0"	"03704"	"COL3A1_000355"	"g.189860905G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702586"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"0"	"03705"	"COL3A1_000355"	"g.189860905G>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702587"	"0"	"99"	"2"	"189860905"	"189860905"	"subst"	"0"	"03704"	"COL3A1_000445"	"g.189860905G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702588"	"0"	"99"	"2"	"189860906"	"189860906"	"dup"	"0"	"03704"	"COL3A1_000446"	"g.189860906dup"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702589"	"0"	"99"	"2"	"189860906"	"189860906"	"subst"	"0"	"00085"	"COL3A1_000002"	"g.189860906T>G"	""	"{PMID:Okamoto et al., 2008:18779970}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702590"	"0"	"99"	"2"	"189861133"	"189861133"	"subst"	"0"	"00736"	"COL3A1_000346"	"g.189861133G>C"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702591"	"0"	"79"	"2"	"189861145"	"189861145"	"subst"	"0"	"00085"	"COL3A1_000749"	"g.189861145C>T"	""	"{PMID:Jamuar et al., 2016:27077130}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702592"	"0"	"99"	"2"	"189861152"	"189861152"	"subst"	"0"	"00736"	"COL3A1_000595"	"g.189861152G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702593"	"0"	"99"	"2"	"189861161"	"189861161"	"subst"	"0"	"00085"	"COL3A1_000043"	"g.189861161G>A"	""	"{PMID:Mackay et al., 1996:8884076}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702594"	"0"	"99"	"2"	"189861161"	"189861161"	"subst"	"0"	"00736"	"COL3A1_000043"	"g.189861161G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702595"	"20"	"99"	"2"	"189861162"	"189866682"	"del"	"0"	"03704"	"COL3A1_000583"	"g.189861162_189866682del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702596"	"0"	"97"	"2"	"189861175"	"189861175"	"subst"	"4.06263E-6"	"00085"	"COL3A1_000711"	"g.189861175C>T"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702597"	"0"	"97"	"2"	"189861175"	"189861175"	"subst"	"4.06263E-6"	"00085"	"COL3A1_000711"	"g.189861175C>T"	""	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702598"	"0"	"99"	"2"	"189861179"	"189861179"	"subst"	"0"	"00085"	"COL3A1_000218"	"g.189861179G>A"	""	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702599"	"0"	"99"	"2"	"189861205"	"189861205"	"subst"	"0"	"00085"	"COL3A1_000044"	"g.189861205G>A"	""	"{PMID:Anderson et al., 1997:8990011}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702600"	"0"	"99"	"2"	"189861205"	"189861205"	"subst"	"0"	"03704"	"COL3A1_000044"	"g.189861205G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702601"	"21"	"99"	"2"	"189861205"	"189861205"	"subst"	"0"	"03704"	"COL3A1_000044"	"g.189861205G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702602"	"10"	"99"	"2"	"189861205"	"189861205"	"subst"	"0"	"03704"	"COL3A1_000044"	"g.189861205G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702603"	"0"	"99"	"2"	"189861205"	"189861205"	"subst"	"0"	"03704"	"COL3A1_000044"	"g.189861205G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702604"	"0"	"99"	"2"	"189861205"	"189861205"	"subst"	"0"	"00736"	"COL3A1_000044"	"g.189861205G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702605"	"0"	"99"	"2"	"189861205"	"189861205"	"subst"	"0"	"00085"	"COL3A1_000044"	"g.189861205G>A"	""	"{PMID:Weerakkody et al., 2018:29543232}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702606"	"0"	"97"	"2"	"189861205"	"189861205"	"subst"	"0"	"03704"	"COL3A1_000359"	"g.189861205G>C"	""	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702607"	"10"	"99"	"2"	"189861205"	"189861205"	"subst"	"0"	"03704"	"COL3A1_000359"	"g.189861205G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702608"	"0"	"99"	"2"	"189861205"	"189861205"	"subst"	"0"	"03704"	"COL3A1_000359"	"g.189861205G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702609"	"0"	"79"	"2"	"189861223"	"189861223"	"subst"	"0"	"00475"	"COL3A1_000213"	"g.189861223G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702610"	"0"	"99"	"2"	"189861223"	"189861223"	"subst"	"0"	"00085"	"COL3A1_000213"	"g.189861223G>A"	""	"{PMID:Drera et al., 2011:22019127}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702611"	"0"	"99"	"2"	"189861223"	"189861223"	"subst"	"0"	"00736"	"COL3A1_000213"	"g.189861223G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702612"	"0"	"97"	"2"	"189861223"	"189861223"	"subst"	"0"	"00085"	"COL3A1_000213"	"g.189861223G>A"	""	"{PMID:Park et al., 2017:29381997}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702613"	"0"	"99"	"2"	"189861224"	"189861224"	"subst"	"0"	"03704"	"COL3A1_000447"	"g.189861224T>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702614"	"20"	"99"	"2"	"189861224"	"189861224"	"subst"	"0"	"03704"	"COL3A1_000448"	"g.189861224T>G"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702615"	"0"	"99"	"2"	"189861226"	"189861226"	"subst"	"0"	"00736"	"COL3A1_000594"	"g.189861226A>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702616"	"0"	"99"	"2"	"189861226"	"189861227"	"del"	"0"	"03704"	"COL3A1_000449"	"g.189861226_189861227del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	"1761+4_+5del"	""	"Unknown"	""	""	"0"	""	""	"g.188996500_188996501del"	""	"pathogenic"	""
"0000702617"	"0"	"99"	"2"	"189861227"	"189861227"	"subst"	"0"	"03704"	"COL3A1_000450"	"g.189861227G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702618"	"0"	"99"	"2"	"189861227"	"189861227"	"subst"	"0"	"00085"	"COL3A1_000174"	"g.189861227G>T"	""	"{PMID:Lee et al., 1991:1672129}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702619"	"0"	"55"	"2"	"189861229"	"189861229"	"subst"	"0"	"00085"	"COL3A1_000732"	"g.189861229T>A"	""	"{PMID:Renner et al., 2019:30675029}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000702620"	"0"	"99"	"2"	"189861237"	"189862326"	"del"	"0"	"03704"	"COL3A1_000363"	"g.189861237_189862326del"	""	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702621"	"0"	"99"	"2"	"189861889"	"189861889"	"subst"	"0"	"00085"	"COL3A1_000276"	"g.189861889A>G"	""	"{PMID:Mortani Barbosa et al., 2011:22065459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702622"	"10"	"99"	"2"	"189861889"	"189861889"	"subst"	"0"	"03704"	"COL3A1_000276"	"g.189861889A>G"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702623"	"0"	"99"	"2"	"189861889"	"189861889"	"subst"	"0"	"03704"	"COL3A1_000276"	"g.189861889A>G"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702624"	"0"	"99"	"2"	"189861892"	"189861892"	"subst"	"0"	"03704"	"COL3A1_000045"	"g.189861892G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702625"	"10"	"99"	"2"	"189861892"	"189861892"	"subst"	"0"	"03704"	"COL3A1_000045"	"g.189861892G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702626"	"0"	"99"	"2"	"189861892"	"189861892"	"subst"	"0"	"00736"	"COL3A1_000596"	"g.189861892G>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702627"	"0"	"59"	"2"	"189861892"	"189861898"	"delins"	"0"	"03707"	"COL3A1_000306"	"g.189861892_189861898delinsTAAG"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702628"	"0"	"99"	"2"	"189861892"	"189861898"	"delins"	"0"	"03704"	"COL3A1_000306"	"g.189861892_189861898delinsTAAG"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702629"	"0"	"59"	"2"	"189861893"	"189862427"	"del"	"0"	"03707"	"COL3A1_000308"	"g.189861893_189862427del"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702630"	"0"	"99"	"2"	"189861900"	"189861900"	"subst"	"0"	"03711"	"COL3A1_000633"	"g.189861900G>C"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702631"	"0"	"99"	"2"	"189861901"	"189861901"	"subst"	"0"	"00085"	"COL3A1_000689"	"g.189861901G>A"	""	"{PMID:Shalhub et al., 2014:24650746}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702632"	"0"	"99"	"2"	"189861902"	"189861902"	"dup"	"0"	"03704"	"COL3A1_000236"	"g.189861902dup"	""	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702633"	"11"	"99"	"2"	"189861915"	"189861915"	"subst"	"0"	"03704"	"COL3A1_000451"	"g.189861915C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702634"	"0"	"99"	"2"	"189861915"	"189861915"	"subst"	"0"	"00736"	"COL3A1_000451"	"g.189861915C>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702635"	"0"	"51"	"2"	"189861933"	"189861933"	"subst"	"0.00451226"	"00085"	"COL3A1_000197"	"g.189861933C>A"	""	""	""	""	""	"Unknown"	""	"rs35795890"	"0"	""	""	""	""	"VUS"	""
"0000702636"	"0"	"33"	"2"	"189861933"	"189861933"	"subst"	"0.00451226"	"00085"	"COL3A1_000197"	"g.189861933C>A"	""	""	""	""	""	"Unknown"	""	"rs35795890"	"0"	""	""	""	""	"benign"	""
"0000702637"	"0"	"11"	"2"	"189861933"	"189861933"	"subst"	"0.00451226"	"00085"	"COL3A1_000197"	"g.189861933C>A"	""	"{PMID:Omoyinmi et al., 2017:28750028}"	""	""	""	"Unknown"	""	"rs35795890"	"0"	""	""	""	""	"likely benign"	""
"0000702638"	"0"	"17"	"2"	"189861933"	"189861933"	"subst"	"0.00451226"	"00085"	"COL3A1_000197"	"g.189861933C>A"	""	"{PMID:Busch et al., 2016:27488172}"	""	""	""	"Unknown"	""	"rs35795890"	"0"	""	""	""	""	"likely pathogenic"	""
"0000702639"	"0"	"99"	"2"	"189861937"	"189861937"	"del"	"0"	"03704"	"COL3A1_000237"	"g.189861937del"	""	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702640"	"0"	"99"	"2"	"189861937"	"189861937"	"subst"	"0"	"00085"	"COL3A1_000191"	"g.189861937G>A"	""	"{PMID:Matsushita et al., 2009:19764513}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702641"	"0"	"99"	"2"	"189861937"	"189861937"	"subst"	"0"	"00085"	"COL3A1_000191"	"g.189861937G>A"	""	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702642"	"0"	"99"	"2"	"189861937"	"189861937"	"subst"	"0"	"00085"	"COL3A1_000191"	"g.189861937G>A"	""	"{PMID:Drera et al., 2011:22019127}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702643"	"0"	"99"	"2"	"189861937"	"189861937"	"subst"	"0"	"00085"	"COL3A1_000191"	"g.189861937G>A"	""	"{PMID:Dar et al., 2012:22610159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702644"	"0"	"99"	"2"	"189861937"	"189861937"	"subst"	"0"	"03704"	"COL3A1_000191"	"g.189861937G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702645"	"10"	"99"	"2"	"189861937"	"189861937"	"subst"	"0"	"03704"	"COL3A1_000452"	"g.189861937G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702646"	"0"	"57"	"2"	"189861947"	"189861947"	"del"	"0"	"01233"	"COL3A1_000656"	"g.189861947del"	""	"{PMID:Overwater et al., 2018:29907982}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702647"	"0"	"99"	"2"	"189861949"	"189861949"	"subst"	"0.000588986"	"00085"	"COL3A1_000277"	"g.189861949G>A"	""	"{PMID:Sakai et al., 2012:22001912}"	""	""	""	"Unknown"	""	"rs146652498"	"0"	""	""	""	""	"pathogenic"	""
"0000702648"	"0"	"71"	"2"	"189861949"	"189861949"	"subst"	"0.000588986"	"00085"	"COL3A1_000277"	"g.189861949G>A"	""	""	""	""	""	"Unknown"	""	"rs146652498"	"0"	""	""	""	""	"VUS"	""
"0000702649"	"0"	"97"	"2"	"189862060"	"189862060"	"subst"	"0"	"00085"	"COL3A1_000713"	"g.189862060A>G"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702650"	"0"	"99"	"2"	"189862062"	"189862062"	"subst"	"0"	"03704"	"COL3A1_000453"	"g.189862062G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702651"	"0"	"99"	"2"	"189862077"	"189862078"	"del"	"0"	"03704"	"COL3A1_000131"	"g.189862077_189862078del"	""	"{PMID:Schwarze et al., 2001:11577371} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702652"	"0"	"55"	"2"	"189862081"	"189862081"	"subst"	"0"	"00085"	"COL3A1_000264"	"g.189862081G>A"	""	"{PMID:Drera et al., 2011:22019127}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000702653"	"0"	"99"	"2"	"189862081"	"189862081"	"subst"	"0"	"00736"	"COL3A1_000264"	"g.189862081G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702654"	"0"	"99"	"2"	"189862090"	"189862090"	"subst"	"0"	"00085"	"COL3A1_000046"	"g.189862090G>A"	""	"{PMID:Watanabe et al., 2007:17251678}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702655"	"0"	"99"	"2"	"189862090"	"189862090"	"subst"	"0"	"03704"	"COL3A1_000046"	"g.189862090G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702656"	"0"	"99"	"2"	"189862090"	"189862090"	"subst"	"0"	"00085"	"COL3A1_000714"	"g.189862090G>T"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702657"	"0"	"51"	"2"	"189862097"	"189862097"	"subst"	"0.122556"	"00085"	"COL3A1_000198"	"g.189862097G>A"	""	"{PMID:Valkkila et al., 2001:11566270}"	""	""	""	"Unknown"	""	"rs7579903"	"0"	""	""	""	""	"VUS"	""
"0000702658"	"0"	"99"	"2"	"189862099"	"189862099"	"subst"	"0"	"00736"	"COL3A1_000597"	"g.189862099G>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702659"	"0"	"97"	"2"	"189862105"	"189862105"	"dup"	"0"	"00085"	"COL3A1_000688"	"g.189862105dup"	""	"{PMID:Kaadan et al., 2018:29650765}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702660"	"0"	"99"	"2"	"189862107"	"189862107"	"subst"	"0"	"03704"	"COL3A1_000454"	"g.189862107G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702661"	"10"	"99"	"2"	"189862107"	"189862107"	"subst"	"0"	"03704"	"COL3A1_000455"	"g.189862107G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702662"	"0"	"99"	"2"	"189862108"	"189862108"	"subst"	"0"	"03704"	"COL3A1_000456"	"g.189862108G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702663"	"0"	"99"	"2"	"189862108"	"189862108"	"subst"	"0"	"03704"	"COL3A1_000457"	"g.189862108G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702664"	"0"	"99"	"2"	"189862116"	"189862116"	"subst"	"0"	"00085"	"COL3A1_000292"	"g.189862116G>A"	""	"{PMID:Shimaoka et al., 2013:23293852}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702665"	"0"	"99"	"2"	"189862116"	"189862116"	"subst"	"0"	"00736"	"COL3A1_000292"	"g.189862116G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702666"	"0"	"99"	"2"	"189862116"	"189862116"	"subst"	"0"	"00085"	"COL3A1_000222"	"g.189862116G>C"	""	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702667"	"0"	"99"	"2"	"189862116"	"189862116"	"subst"	"0"	"03704"	"COL3A1_000222"	"g.189862116G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702668"	"0"	"99"	"2"	"189862116"	"189862116"	"subst"	"0"	"03704"	"COL3A1_000222"	"g.189862116G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702669"	"0"	"97"	"2"	"189862116"	"189862116"	"subst"	"0"	"00085"	"COL3A1_000715"	"g.189862116G>T"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702670"	"0"	"99"	"2"	"189862120"	"189862120"	"subst"	"0"	"00085"	"COL3A1_000175"	"g.189862120G>A"	""	"{PMID:Thakker-Varia et al., 1995:7581395}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702671"	"0"	"99"	"2"	"189862120"	"189862120"	"subst"	"0"	"03705"	"COL3A1_000175"	"g.189862120G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702672"	"0"	"99"	"2"	"189862120"	"189862120"	"subst"	"0"	"03704"	"COL3A1_000148"	"g.189862120G>T"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702673"	"10"	"99"	"2"	"189862424"	"189862424"	"subst"	"0"	"03704"	"COL3A1_000458"	"g.189862424A>G"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702674"	"0"	"99"	"2"	"189862424"	"189862424"	"subst"	"0"	"03704"	"COL3A1_000368"	"g.189862424A>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702675"	"0"	"99"	"2"	"189862454"	"189862454"	"subst"	"0"	"00085"	"COL3A1_000258"	"g.189862454G>A"	""	"{PMID:Colebatch et al., 2011:21946467}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702676"	"0"	"99"	"2"	"189862454"	"189862454"	"subst"	"0"	"03704"	"COL3A1_000258"	"g.189862454G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702677"	"0"	"99"	"2"	"189862462"	"189862462"	"subst"	"0"	"03704"	"COL3A1_000047"	"g.189862462G>C"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702678"	"0"	"99"	"2"	"189862471"	"189862471"	"subst"	"0"	"03704"	"COL3A1_000460"	"g.189862471G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702679"	"0"	"99"	"2"	"189862471"	"189862471"	"subst"	"0"	"03704"	"COL3A1_000459"	"g.189862471G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702680"	"11"	"99"	"2"	"189862472"	"189862472"	"subst"	"0"	"03704"	"COL3A1_000461"	"g.189862472G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702681"	"0"	"99"	"2"	"189862472"	"189862472"	"subst"	"0"	"03704"	"COL3A1_000461"	"g.189862472G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702682"	"0"	"99"	"2"	"189862472"	"189862472"	"subst"	"0"	"00736"	"COL3A1_000461"	"g.189862472G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702683"	"0"	"99"	"2"	"189862472"	"189862472"	"subst"	"0"	"00085"	"COL3A1_000254"	"g.189862472G>T"	""	"{PMID:Brightwell and Walker, 2011:21782484}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702684"	"0"	"99"	"2"	"189862480"	"189862480"	"subst"	"0"	"00085"	"COL3A1_000176"	"g.189862480G>A"	""	"{PMID:Lund, 2005:16513057}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702685"	"0"	"99"	"2"	"189862480"	"189862480"	"subst"	"0"	"03704"	"COL3A1_000176"	"g.189862480G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702686"	"0"	"99"	"2"	"189862480"	"189862480"	"subst"	"0"	"00736"	"COL3A1_000176"	"g.189862480G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702687"	"0"	"99"	"2"	"189862480"	"189862480"	"subst"	"0"	"03704"	"COL3A1_000149"	"g.189862480G>C"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702688"	"0"	"99"	"2"	"189862480"	"189862480"	"subst"	"0"	"00085"	"COL3A1_000149"	"g.189862480G>C"	""	"{PMID:Park et al., 2019:31324749}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702689"	"0"	"99"	"2"	"189862481"	"189862484"	"del"	"0"	"03704"	"COL3A1_000462"	"g.189862481_189862484del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702690"	"0"	"99"	"2"	"189862481"	"189862484"	"del"	"0"	"03711"	"COL3A1_000462"	"g.189862481_189862484del"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702691"	"0"	"99"	"2"	"189862993"	"189862993"	"subst"	"0"	"00085"	"COL3A1_000077"	"g.189862993G>A"	""	"{PMID:Ishiguro et al., 2009:19420820}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702692"	"0"	"99"	"2"	"189862993"	"189862993"	"subst"	"0"	"00085"	"COL3A1_000077"	"g.189862993G>A"	""	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702693"	"20"	"99"	"2"	"189862993"	"189862993"	"subst"	"0"	"03704"	"COL3A1_000463"	"g.189862993G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702694"	"0"	"11"	"2"	"189862995"	"189862995"	"subst"	"0.00246586"	"00085"	"COL3A1_000186"	"g.189862995T>C"	""	"{PMID:Chan et al., 2008:18272325}"	""	""	""	"Unknown"	""	"rs41263757"	"0"	""	""	""	""	"likely benign"	""
"0000702695"	"0"	"99"	"2"	"189863020"	"189863020"	"subst"	"0"	"00085"	"COL3A1_000683"	"g.189863020G>A"	""	"{PMID:Lim et al., 2018:30067098}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702696"	"0"	"99"	"2"	"189863029"	"189863029"	"subst"	"0"	"03704"	"COL3A1_000464"	"g.189863029G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702697"	"0"	"99"	"2"	"189863037"	"189863037"	"subst"	"0"	"00736"	"COL3A1_000341"	"g.189863037G>C"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702698"	"0"	"99"	"2"	"189863038"	"189863038"	"subst"	"0"	"03704"	"COL3A1_000048"	"g.189863038G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702699"	"0"	"77"	"2"	"189863040"	"189863040"	"subst"	"8.14817E-6"	"00085"	"COL3A1_000743"	"g.189863040G>A"	""	"{PMID:Jiao et al., 2018:30627513}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702700"	"21"	"99"	"2"	"189863042"	"189863049"	"del"	"0"	"03704"	"COL3A1_000465"	"g.189863042_189863049del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.188998316_188998323del"	""	"pathogenic"	""
"0000702701"	"0"	"99"	"2"	"189863047"	"189863047"	"subst"	"0"	"03704"	"COL3A1_000466"	"g.189863047T>G"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702702"	"0"	"99"	"2"	"189863050"	"189863050"	"subst"	"0"	"00736"	"COL3A1_000598"	"g.189863050G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702703"	"0"	"55"	"2"	"189863382"	"189863382"	"subst"	"4.06607E-6"	"00085"	"COL3A1_000733"	"g.189863382A>G"	""	"{PMID:Renner et al., 2019:30675029}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000702704"	"20"	"99"	"2"	"189863394"	"189863403"	"del"	"0"	"03704"	"COL3A1_000467"	"g.189863394_189863403del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702705"	"0"	"99"	"2"	"189863401"	"189863401"	"subst"	"0"	"03704"	"COL3A1_000049"	"g.189863401G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702706"	"0"	"99"	"2"	"189863409"	"189863409"	"subst"	"0"	"03704"	"COL3A1_000360"	"g.189863409G>C"	""	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702707"	"0"	"99"	"2"	"189863410"	"189863410"	"subst"	"0"	"00085"	"COL3A1_000079"	"g.189863410G>A"	""	"{PMID:Nakamura et al., 2009:19477391}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702708"	"0"	"99"	"2"	"189863410"	"189863410"	"subst"	"0"	"03704"	"COL3A1_000079"	"g.189863410G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702709"	"0"	"99"	"2"	"189863410"	"189863410"	"subst"	"0"	"03704"	"COL3A1_000468"	"g.189863410G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702710"	"0"	"99"	"2"	"189863410"	"189863410"	"subst"	"0"	"03704"	"COL3A1_000468"	"g.189863410G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702711"	"0"	"99"	"2"	"189863419"	"189863419"	"subst"	"0"	"00085"	"COL3A1_000050"	"g.189863419G>A"	""	"{PMID:McGrory et al., 1996:8664902}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702712"	"0"	"99"	"2"	"189863419"	"189863419"	"subst"	"0"	"03704"	"COL3A1_000050"	"g.189863419G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702713"	"0"	"99"	"2"	"189863419"	"189863419"	"subst"	"0"	"03704"	"COL3A1_000050"	"g.189863419G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702714"	"0"	"11"	"2"	"189863424"	"189863424"	"subst"	"0.00176049"	"00085"	"COL3A1_000136"	"g.189863424C>A"	""	"{PMID:Tromp et al., 1993:8514866}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000702715"	"0"	"11"	"2"	"189863424"	"189863424"	"subst"	"0.00176049"	"03711"	"COL3A1_000136"	"g.189863424C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000702716"	"0"	"33"	"2"	"189863424"	"189863424"	"subst"	"0.00176049"	"00085"	"COL3A1_000136"	"g.189863424C>A"	""	"{PMID:Ziganshin et al., 2015:26188975}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"benign"	""
"0000702717"	"0"	"99"	"2"	"189863444"	"189863444"	"subst"	"0"	"03704"	"COL3A1_000150"	"g.189863444G>A"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702718"	"20"	"99"	"2"	"189863444"	"189863444"	"subst"	"0"	"03704"	"COL3A1_000150"	"g.189863444G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702719"	"10"	"99"	"2"	"189863444"	"189863444"	"subst"	"0"	"03704"	"COL3A1_000150"	"g.189863444G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702720"	"0"	"97"	"2"	"189863444"	"189863444"	"subst"	"0"	"00085"	"COL3A1_000150"	"g.189863444G>A"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702721"	"0"	"99"	"2"	"189863444"	"189863444"	"subst"	"0"	"03704"	"COL3A1_000470"	"g.189863444G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702722"	"0"	"99"	"2"	"189863446"	"189863446"	"subst"	"0"	"03704"	"COL3A1_000469"	"g.189863446T>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702723"	"0"	"99"	"2"	"189863446"	"189863446"	"subst"	"0"	"03704"	"COL3A1_000469"	"g.189863446T>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702724"	"0"	"99"	"2"	"189864010"	"189864010"	"subst"	"0"	"03704"	"COL3A1_000190"	"g.189864010G>A"	""	"{PMID:Khalique et al., 2009:19695909} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702725"	"0"	"99"	"2"	"189864012"	"189864012"	"subst"	"0"	"03704"	"COL3A1_000471"	"g.189864012G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702726"	"0"	"99"	"2"	"189864012"	"189864012"	"subst"	"0"	"00085"	"COL3A1_000471"	"g.189864012G>T"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702727"	"0"	"11"	"2"	"189864023"	"189864023"	"subst"	"0.00552585"	"00085"	"COL3A1_000187"	"g.189864023G>A"	""	"{PMID:Chan et al., 2008:18272325}"	""	""	""	"Unknown"	""	"rs41263773"	"0"	""	""	""	""	"likely benign"	""
"0000702728"	"0"	"99"	"2"	"189864030"	"189864030"	"subst"	"0"	"00085"	"COL3A1_000051"	"g.189864030G>T"	""	"{PMID:Germain, 2007:17640391}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702729"	"0"	"99"	"2"	"189864030"	"189864030"	"subst"	"0"	"00736"	"COL3A1_000051"	"g.189864030G>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702730"	"0"	"99"	"2"	"189864030"	"189864030"	"subst"	"0"	"00736"	"COL3A1_000051"	"g.189864030G>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702731"	"0"	"17"	"2"	"189864032"	"189864032"	"subst"	"0"	"03711"	"COL3A1_000632"	"g.189864032G>A"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702732"	"0"	"99"	"2"	"189864032"	"189864032"	"subst"	"0"	"00085"	"COL3A1_000632"	"g.189864032G>A"	""	"{PMID:Ghali et al., 2019:30837697}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702733"	"0"	"99"	"2"	"189864032"	"189864032"	"subst"	"0"	"00085"	"COL3A1_000632"	"g.189864032G>A"	""	"{PMID:Ghali et al., 2019:30837697}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702734"	"0"	"99"	"2"	"189864038"	"189864038"	"subst"	"0"	"01233"	"COL3A1_000651"	"g.189864038G>A"	""	"{PMID:Overwater et al., 2018:29907982}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702735"	"0"	"99"	"2"	"189864039"	"189864039"	"subst"	"0"	"03704"	"COL3A1_000472"	"g.189864039G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702736"	"0"	"51"	"2"	"189864044"	"189864044"	"subst"	"0.000342663"	"00085"	"COL3A1_000201"	"g.189864044C>G"	""	""	""	""	""	"Unknown"	""	"rs41263775"	"0"	""	""	""	""	"VUS"	""
"0000702737"	"21"	"75"	"2"	"189864045"	"189864045"	"del"	"0"	"00085"	"COL3A1_000681"	"g.189864045del"	""	"{PMID:Horn et al., 2017:28742248}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000702738"	"10"	"99"	"2"	"189864047"	"189864047"	"subst"	"0"	"03704"	"COL3A1_000473"	"g.189864047G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702739"	"0"	"99"	"2"	"189864048"	"189864048"	"subst"	"0"	"03705"	"COL3A1_000664"	"g.189864048G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702740"	"0"	"99"	"2"	"189864056"	"189864056"	"subst"	"0"	"03704"	"COL3A1_000474"	"g.189864056G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702741"	"0"	"99"	"2"	"189864057"	"189864057"	"subst"	"0"	"03704"	"COL3A1_000475"	"g.189864057G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702742"	"0"	"99"	"2"	"189864065"	"189864065"	"subst"	"0"	"00085"	"COL3A1_000265"	"g.189864065G>A"	""	"{PMID:Drera et al., 2011:22019127}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702743"	"0"	"99"	"2"	"189864066"	"189864066"	"subst"	"0"	"03704"	"COL3A1_000476"	"g.189864066G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702744"	"10"	"99"	"2"	"189864075"	"189864075"	"subst"	"0"	"03704"	"COL3A1_000477"	"g.189864075G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702745"	"0"	"11"	"2"	"189864080"	"189864080"	"subst"	"0.249659"	"00085"	"COL3A1_000137"	"g.189864080G>A"	""	"{PMID:Zafarullah et al., 1990:2235526}"	""	""	""	"Unknown"	""	"rs1800255"	"0"	""	""	""	""	"likely benign"	""
"0000702746"	"0"	"91"	"2"	"189864080"	"189864080"	"subst"	"0.249659"	"00085"	"COL3A1_000137"	"g.189864080G>A"	""	"{PMID:Chen et al., 2011:21609597}"	""	""	""	"Unknown"	""	"rs1800255"	"0"	""	""	""	""	"VUS"	""
"0000702747"	"0"	"55"	"2"	"189864080"	"189864080"	"subst"	"0.249659"	"00085"	"COL3A1_000137"	"g.189864080G>A"	""	"{PMID:Chou et al., 2004:15193836}"	""	""	""	"Unknown"	""	"rs1800255"	"0"	""	""	""	""	"VUS"	""
"0000702748"	"0"	"99"	"2"	"189864083"	"189864083"	"subst"	"0"	"03704"	"COL3A1_000052"	"g.189864083G>C"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702749"	"0"	"99"	"2"	"189864083"	"189864083"	"subst"	"0"	"00736"	"COL3A1_000052"	"g.189864083G>C"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702750"	"0"	"99"	"2"	"189864084"	"189864084"	"subst"	"0"	"03704"	"COL3A1_000478"	"g.189864084G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702751"	"0"	"99"	"2"	"189864092"	"189864092"	"subst"	"0"	"00736"	"COL3A1_000599"	"g.189864092G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702752"	"0"	"99"	"2"	"189864093"	"189864093"	"subst"	"0"	"03704"	"COL3A1_000479"	"g.189864093G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702753"	"10"	"99"	"2"	"189864093"	"189864093"	"subst"	"0"	"03704"	"COL3A1_000480"	"g.189864093G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702754"	"0"	"11"	"2"	"189864096"	"189864096"	"subst"	"0"	"00085"	"COL3A1_000744"	"g.189864096C>T"	""	"{PMID:Poninska et al., 2016:27146836}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000702755"	"20"	"99"	"2"	"189864101"	"189864101"	"subst"	"0"	"03704"	"COL3A1_000481"	"g.189864101G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702756"	"10"	"99"	"2"	"189864101"	"189864101"	"subst"	"0"	"03704"	"COL3A1_000481"	"g.189864101G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702757"	"0"	"99"	"2"	"189864102"	"189864102"	"subst"	"0"	"03704"	"COL3A1_000482"	"g.189864102G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702758"	"20"	"99"	"2"	"189864110"	"189864110"	"subst"	"0"	"03704"	"COL3A1_000483"	"g.189864110G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702759"	"0"	"99"	"2"	"189864196"	"189864222"	"del"	"0"	"03704"	"COL3A1_000484"	"g.189864196_189864222del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702760"	"0"	"79"	"2"	"189864197"	"189864197"	"subst"	"0"	"00085"	"COL3A1_000684"	"g.189864197G>A"	""	"{PMID:Shalhub et al., 2019:30793832}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702761"	"0"	"99"	"2"	"189864197"	"189864197"	"subst"	"0"	"00085"	"COL3A1_000053"	"g.189864197G>T"	""	"{PMID:Nanayakkara et al., 2006:17122455}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702762"	"0"	"99"	"2"	"189864197"	"189864197"	"subst"	"0"	"03707"	"COL3A1_000053"	"g.189864197G>T"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702763"	"0"	"99"	"2"	"189864197"	"189864197"	"subst"	"0"	"03704"	"COL3A1_000053"	"g.189864197G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702764"	"0"	"99"	"2"	"189864205"	"189864205"	"subst"	"0"	"03704"	"COL3A1_000054"	"g.189864205G>A"	""	"{PMID:Chuman et al., 2002:12131463} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702765"	"0"	"99"	"2"	"189864208"	"189864234"	"del"	"0"	"00736"	"COL3A1_000600"	"g.189864208_189864234del"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702766"	"10"	"99"	"2"	"189864214"	"189864214"	"subst"	"0"	"03704"	"COL3A1_000485"	"g.189864214G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702767"	"0"	"99"	"2"	"189864215"	"189864215"	"subst"	"0"	"03704"	"COL3A1_000486"	"g.189864215G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702768"	"0"	"99"	"2"	"189864215"	"189864215"	"subst"	"0"	"03704"	"COL3A1_000486"	"g.189864215G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702769"	"0"	"99"	"2"	"189864216"	"189864242"	"del"	"0"	"03704"	"COL3A1_000487"	"g.189864216_189864242del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702770"	"0"	"99"	"2"	"189864224"	"189864224"	"subst"	"0"	"00085"	"COL3A1_000251"	"g.189864224G>A"	""	"{PMID:Naing et al., 2011:21219851}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702771"	"0"	"99"	"2"	"189864224"	"189864224"	"subst"	"0"	"00736"	"COL3A1_000251"	"g.189864224G>A"	""	"{PMID:Ferré et al., 2012:22492385}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702772"	"0"	"99"	"2"	"189864224"	"189864224"	"subst"	"0"	"00085"	"COL3A1_000251"	"g.189864224G>A"	""	"{PMID:Yoneda et al., 2014:24932165}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702773"	"20"	"99"	"2"	"189864224"	"189864224"	"subst"	"0"	"03704"	"COL3A1_000251"	"g.189864224G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702774"	"20"	"99"	"2"	"189864242"	"189864242"	"subst"	"0"	"03704"	"COL3A1_000488"	"g.189864242G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702775"	"0"	"99"	"2"	"189864250"	"189864250"	"subst"	"0"	"00085"	"COL3A1_000055"	"g.189864250G>A"	""	"{PMID:Bateman et al., 1997:9452103}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702776"	"0"	"99"	"2"	"189864250"	"189864250"	"subst"	"0"	"03704"	"COL3A1_000055"	"g.189864250G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702777"	"10"	"99"	"2"	"189864250"	"189864250"	"subst"	"0"	"00085"	"COL3A1_000622"	"g.189864250G>C"	""	"{PMID:He et al., 2014:25420629}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702778"	"11"	"99"	"2"	"189864251"	"189864251"	"subst"	"0"	"03704"	"COL3A1_000489"	"g.189864251G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702779"	"0"	"99"	"2"	"189864259"	"189864259"	"subst"	"0"	"03704"	"COL3A1_000490"	"g.189864259G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702780"	"0"	"99"	"2"	"189864259"	"189864259"	"subst"	"0"	"03704"	"COL3A1_000490"	"g.189864259G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702781"	"0"	"99"	"2"	"189864260"	"189864260"	"subst"	"0"	"03704"	"COL3A1_000491"	"g.189864260G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702782"	"0"	"99"	"2"	"189864261"	"189864261"	"del"	"0"	"00085"	"COL3A1_000253"	"g.189864261del"	""	"{PMID:Naing et al., 2011:21219851}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702783"	"0"	"77"	"2"	"189864261"	"189864261"	"del"	"0"	"00085"	"COL3A1_000253"	"g.189864261del"	""	"{PMID:Naing et al., 2014:24971038}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702784"	"0"	"99"	"2"	"189864268"	"189864268"	"subst"	"0"	"00085"	"COL3A1_000266"	"g.189864268G>A"	""	"{PMID:Drera et al., 2011:22019127}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702785"	"0"	"99"	"2"	"189864268"	"189864268"	"subst"	"0"	"03704"	"COL3A1_000266"	"g.189864268G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702786"	"0"	"99"	"2"	"189864268"	"189864268"	"subst"	"0"	"00085"	"COL3A1_000266"	"g.189864268G>A"	""	"{PMID:Mestek-Boukhibar et al., 2018:30049826}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702787"	"0"	"99"	"2"	"189864269"	"189864269"	"subst"	"0"	"00085"	"COL3A1_000219"	"g.189864269G>A"	""	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702788"	"0"	"99"	"2"	"189864269"	"189864269"	"subst"	"0"	"00085"	"COL3A1_000056"	"g.189864269G>T"	""	"{PMID:Yang et al., 2007:17728513}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702789"	"0"	"99"	"2"	"189864277"	"189864277"	"subst"	"0"	"03706"	"COL3A1_000255"	"g.189864277G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702790"	"0"	"99"	"2"	"189864277"	"189864277"	"subst"	"0"	"03704"	"COL3A1_000255"	"g.189864277G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702791"	"0"	"99"	"2"	"189864286"	"189864286"	"subst"	"0"	"03704"	"COL3A1_000057"	"g.189864286G>A"	""	"{PMID:Gilchrist et al., 1999:10051163} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702792"	"11"	"99"	"2"	"189864286"	"189864286"	"subst"	"0"	"03704"	"COL3A1_000057"	"g.189864286G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702793"	"0"	"99"	"2"	"189864286"	"189864286"	"subst"	"0"	"00085"	"COL3A1_000057"	"g.189864286G>A"	""	"{PMID:Debette et al., 2014:25355833}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702794"	"0"	"99"	"2"	"189864286"	"189864286"	"subst"	"0"	"00085"	"COL3A1_000057"	"g.189864286G>A"	""	"{PMID:Kaadan et al., 2018:29650765}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702795"	"20"	"99"	"2"	"189864286"	"189864286"	"subst"	"0"	"03704"	"COL3A1_000492"	"g.189864286G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702796"	"0"	"99"	"2"	"189864287"	"189864287"	"subst"	"0"	"03704"	"COL3A1_000058"	"g.189864287G>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702797"	"0"	"99"	"2"	"189864287"	"189864287"	"subst"	"0"	"00085"	"COL3A1_000058"	"g.189864287G>T"	""	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702798"	"0"	"99"	"2"	"189864295"	"189864295"	"subst"	"0"	"03707"	"COL3A1_000300"	"g.189864295G>A"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702799"	"0"	"99"	"2"	"189864295"	"189864295"	"subst"	"0"	"00736"	"COL3A1_000300"	"g.189864295G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702800"	"10"	"99"	"2"	"189864295"	"189864295"	"subst"	"0"	"03704"	"COL3A1_000300"	"g.189864295G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702801"	"0"	"99"	"2"	"189864295"	"189864295"	"subst"	"0"	"00085"	"COL3A1_000640"	"g.189864295G>T"	""	"{PMID:Inokuchi et al., 2014:25526469}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702802"	"0"	"99"	"2"	"189864296"	"189864296"	"subst"	"0"	"00736"	"COL3A1_000321"	"g.189864296G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702803"	"0"	"99"	"2"	"189864296"	"189864296"	"subst"	"0"	"03704"	"COL3A1_000321"	"g.189864296G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702804"	"0"	"99"	"2"	"189864296"	"189864296"	"subst"	"0"	"00085"	"COL3A1_000672"	"g.189864296G>C"	""	"{PMID:Berezowska et al., 2018:29323927}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702805"	"0"	"11"	"2"	"189864303"	"189864303"	"subst"	"0"	"00085"	"COL3A1_000729"	"g.189864303G>A"	""	"{PMID:Renner et al., 2019:30675029}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000702806"	"0"	"99"	"2"	"189864569"	"189864569"	"subst"	"0"	"00736"	"COL3A1_000601"	"g.189864569G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702807"	"0"	"99"	"2"	"189864569"	"189864569"	"subst"	"0"	"03704"	"COL3A1_000059"	"g.189864569G>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702808"	"0"	"99"	"2"	"189864569"	"189864569"	"subst"	"0"	"00736"	"COL3A1_000059"	"g.189864569G>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702809"	"0"	"11"	"2"	"189864582"	"189864582"	"subst"	"0.233858"	"00085"	"COL3A1_000138"	"g.189864582T>C"	""	"{PMID:Tromp et al., 1991:2011540}"	""	""	""	"Unknown"	""	"rs1801184"	"0"	""	""	""	""	"likely benign"	""
"0000702810"	"0"	"97"	"2"	"189864587"	"189864587"	"subst"	"0"	"00085"	"COL3A1_000716"	"g.189864587G>A"	""	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702811"	"0"	"99"	"2"	"189864605"	"189864605"	"subst"	"0"	"00085"	"COL3A1_000060"	"g.189864605G>A"	""	"{PMID:Madhatheri et al., 1994:7912131}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702812"	"20"	"99"	"2"	"189864614"	"189864614"	"subst"	"0"	"03704"	"COL3A1_000493"	"g.189864614G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702813"	"0"	"79"	"2"	"189864624"	"189864624"	"subst"	"0"	"03706"	"COL3A1_000275"	"g.189864624G>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702814"	"0"	"77"	"2"	"189864626"	"189864626"	"subst"	"0"	"00736"	"COL3A1_000602"	"g.189864626G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702815"	"20"	"99"	"2"	"189865456"	"189872182"	"del"	"0"	"03704"	"COL3A1_000494"	"g.189865456_189872182del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702816"	"0"	"99"	"2"	"189866015"	"189872833"	"del"	"0"	"03704"	"COL3A1_000132"	"g.189866015_189872833del"	""	"{PMID:Vissing et al., 1991:2002056} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702817"	"0"	"99"	"2"	"189866121"	"189866121"	"subst"	"0"	"03704"	"COL3A1_000495"	"g.189866121A>G"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702818"	"0"	"99"	"2"	"189866123"	"189866123"	"subst"	"0"	"03707"	"COL3A1_000302"	"g.189866123G>C"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702819"	"20"	"99"	"2"	"189866123"	"189866123"	"subst"	"0"	"03704"	"COL3A1_000302"	"g.189866123G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702820"	"0"	"99"	"2"	"189866123"	"189866123"	"subst"	"0"	"00085"	"COL3A1_000061"	"g.189866123G>T"	""	"{PMID:Mackay et al., 1996:8884076}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702821"	"0"	"99"	"2"	"189866124"	"189866124"	"subst"	"0"	"00736"	"COL3A1_000278"	"g.189866124G>A"	""	"{PMID:Ferré et al., 2012:22492385}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702822"	"0"	"99"	"2"	"189866124"	"189866124"	"subst"	"0"	"03707"	"COL3A1_000278"	"g.189866124G>A"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702823"	"0"	"99"	"2"	"189866124"	"189866124"	"subst"	"0"	"03704"	"COL3A1_000278"	"g.189866124G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702824"	"20"	"99"	"2"	"189866124"	"189866124"	"subst"	"0"	"03704"	"COL3A1_000278"	"g.189866124G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702825"	"0"	"99"	"2"	"189866124"	"189866124"	"subst"	"0"	"00736"	"COL3A1_000278"	"g.189866124G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702826"	"0"	"99"	"2"	"189866124"	"189866124"	"subst"	"0"	"00736"	"COL3A1_000332"	"g.189866124G>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702827"	"21"	"99"	"2"	"189866124"	"189866124"	"subst"	"0"	"03704"	"COL3A1_000332"	"g.189866124G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702828"	"0"	"99"	"2"	"189866124"	"189866124"	"subst"	"0"	"00736"	"COL3A1_000332"	"g.189866124G>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702829"	"0"	"99"	"2"	"189866132"	"189866132"	"subst"	"0"	"03704"	"COL3A1_000496"	"g.189866132G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702830"	"0"	"99"	"2"	"189866132"	"189866132"	"subst"	"0"	"00736"	"COL3A1_000603"	"g.189866132G>C"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702831"	"20"	"99"	"2"	"189866133"	"189866133"	"subst"	"0"	"03704"	"COL3A1_000497"	"g.189866133G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702832"	"0"	"17"	"2"	"189866134"	"189866151"	"del"	"0"	"00085"	"COL3A1_000753"	"g.189866134_189866151del"	""	"{PMID:Busch et al., 2016:27488172}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702833"	"0"	"99"	"2"	"189866142"	"189866142"	"subst"	"0"	"03705"	"COL3A1_000660"	"g.189866142G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702834"	"0"	"99"	"2"	"189866151"	"189866151"	"subst"	"0"	"00085"	"COL3A1_000717"	"g.189866151G>T"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702835"	"0"	"99"	"2"	"189866168"	"189866168"	"subst"	"0"	"03711"	"COL3A1_000629"	"g.189866168G>C"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702836"	"0"	"99"	"2"	"189866176"	"189866176"	"subst"	"0"	"00085"	"COL3A1_000177"	"g.189866176G>A"	""	"{PMID:Kuivaniemi et al., 1995:7665911}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702837"	"0"	"99"	"2"	"189866176"	"189866176"	"subst"	"0"	"03704"	"COL3A1_000177"	"g.189866176G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702838"	"0"	"99"	"2"	"189866177"	"189866177"	"subst"	"0"	"03704"	"COL3A1_000151"	"g.189866177G>A"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702839"	"0"	"99"	"2"	"189866177"	"189866177"	"subst"	"0"	"00736"	"COL3A1_000151"	"g.189866177G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702840"	"0"	"99"	"2"	"189866178"	"189866178"	"subst"	"0"	"03705"	"COL3A1_000662"	"g.189866178T>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702841"	"0"	"99"	"2"	"189866178"	"189866178"	"subst"	"0"	"03704"	"COL3A1_000152"	"g.189866178T>C"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702842"	"20"	"99"	"2"	"189866231"	"189870738"	"del"	"0"	"03704"	"COL3A1_000498"	"g.189866231_189870738del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702843"	"21"	"99"	"2"	"189866280"	"189866280"	"subst"	"0"	"00085"	"COL3A1_000062"	"g.189866280G>A"	""	"{PMID:Kontusaari et al., 1990:2243125}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702844"	"0"	"99"	"2"	"189866280"	"189866280"	"subst"	"0"	"00085"	"COL3A1_000062"	"g.189866280G>A"	""	"Yang et al., 2006 {ASHG06:30420:Abstract}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702845"	"21"	"99"	"2"	"189866280"	"189866280"	"subst"	"0"	"03707"	"COL3A1_000062"	"g.189866280G>A"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702846"	"0"	"99"	"2"	"189866280"	"189866280"	"subst"	"0"	"03704"	"COL3A1_000062"	"g.189866280G>A"	""	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702847"	"21"	"99"	"2"	"189866280"	"189866280"	"subst"	"0"	"03704"	"COL3A1_000062"	"g.189866280G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702848"	"20"	"99"	"2"	"189866280"	"189866280"	"subst"	"0"	"03704"	"COL3A1_000062"	"g.189866280G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702849"	"0"	"99"	"2"	"189866280"	"189866280"	"subst"	"0"	"00085"	"COL3A1_000062"	"g.189866280G>A"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702850"	"10"	"99"	"2"	"189866281"	"189866281"	"subst"	"0"	"03704"	"COL3A1_000499"	"g.189866281G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702851"	"0"	"99"	"2"	"189866281"	"189866281"	"subst"	"0"	"00736"	"COL3A1_000499"	"g.189866281G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702852"	"0"	"99"	"2"	"189866281"	"189866281"	"subst"	"0"	"00085"	"COL3A1_000499"	"g.189866281G>T"	""	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702853"	"0"	"99"	"2"	"189867034"	"189867034"	"subst"	"0"	"00085"	"COL3A1_000063"	"g.189867034G>A"	""	"{PMID:Tonnessen et al., 2007:17210404}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702854"	"0"	"99"	"2"	"189867034"	"189867034"	"subst"	"0"	"03704"	"COL3A1_000063"	"g.189867034G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702855"	"0"	"99"	"2"	"189867034"	"189867034"	"subst"	"0"	"00085"	"COL3A1_000063"	"g.189867034G>A"	""	"{PMID:Ouchi et al., 2019:31891008}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702856"	"0"	"99"	"2"	"189867042"	"189867042"	"subst"	"0"	"00085"	"COL3A1_000064"	"g.189867042G>A"	""	"{PMID:Narcisi et al., 1994:7833919}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702857"	"0"	"99"	"2"	"189867043"	"189867043"	"subst"	"0"	"00085"	"COL3A1_000293"	"g.189867043G>T"	""	"{PMID:Kashizaki et., 2013:23374456}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702858"	"0"	"99"	"2"	"189867049"	"189867049"	"subst"	"0"	"03711"	"COL3A1_000635"	"g.189867049C>T"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702859"	"0"	"99"	"2"	"189867070"	"189867070"	"subst"	"0"	"00736"	"COL3A1_000604"	"g.189867070G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702860"	"0"	"99"	"2"	"189867078"	"189867078"	"subst"	"0"	"00085"	"COL3A1_000170"	"g.189867078G>C"	""	"{PMID:Giunta and Steinmann, 2000:10923041}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702861"	"20"	"99"	"2"	"189867079"	"189867079"	"dup"	"0"	"03704"	"COL3A1_000502"	"g.189867079dup"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702862"	"0"	"99"	"2"	"189867082"	"189867082"	"subst"	"0"	"03704"	"COL3A1_000369"	"g.189867082G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702863"	"0"	"99"	"2"	"189867679"	"189867679"	"subst"	"0"	"00736"	"COL3A1_000606"	"g.189867679A>G"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702864"	"0"	"79"	"2"	"189867691"	"189867691"	"subst"	"0"	"00085"	"COL3A1_000685"	"g.189867691G>A"	""	"{PMID:Shalhub et al., 2019:30793832}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702865"	"0"	"99"	"2"	"189867700"	"189867700"	"subst"	"0"	"00085"	"COL3A1_000294"	"g.189867700G>C"	""	"{PMID:Eder et al., 2013:23489429}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702866"	"0"	"99"	"2"	"189867717"	"189867717"	"subst"	"0"	"00085"	"COL3A1_000065"	"g.189867717G>A"	""	"{PMID:Richards et al., 1993:8411057}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702867"	"0"	"99"	"2"	"189867717"	"189867717"	"subst"	"0"	"00085"	"COL3A1_000066"	"g.189867717G>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702868"	"0"	"99"	"2"	"189867718"	"189867718"	"subst"	"0"	"00736"	"COL3A1_000351"	"g.189867718G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702869"	"0"	"99"	"2"	"189867718"	"189867718"	"subst"	"0"	"00085"	"COL3A1_000351"	"g.189867718G>A"	""	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702870"	"0"	"99"	"2"	"189867725"	"189867751"	"del"	"0"	"00085"	"COL3A1_000133"	"g.189867725_189867751del"	""	"{PMID:Richards et al., 1992:1370809}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702871"	"0"	"99"	"2"	"189867727"	"189867727"	"subst"	"0"	"00085"	"COL3A1_000364"	"g.189867727G>A"	""	"{PMID:Bergeron et al., 2014:24758138}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702872"	"0"	"99"	"2"	"189867727"	"189867727"	"subst"	"0"	"00736"	"COL3A1_000364"	"g.189867727G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702873"	"10"	"99"	"2"	"189867736"	"189867736"	"subst"	"0"	"03704"	"COL3A1_000067"	"g.189867736G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702874"	"0"	"99"	"2"	"189867736"	"189867736"	"subst"	"0"	"00736"	"COL3A1_000605"	"g.189867736G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702875"	"0"	"99"	"2"	"189867745"	"189867745"	"subst"	"0"	"00085"	"COL3A1_000067"	"g.189867745G>A"	""	"{PMID:Lund, 2005:16513057}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702876"	"0"	"99"	"2"	"189867745"	"189867745"	"subst"	"0"	"03704"	"COL3A1_000067"	"g.189867745G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702877"	"0"	"99"	"2"	"189867745"	"189867745"	"subst"	"0"	"03704"	"COL3A1_000067"	"g.189867745G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702878"	"0"	"55"	"2"	"189867750"	"189867750"	"subst"	"0"	"01233"	"COL3A1_000657"	"g.189867750C>T"	""	"{PMID:Overwater et al., 2018:29907982}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000702879"	"0"	"99"	"2"	"189867763"	"189867763"	"subst"	"0"	"00085"	"COL3A1_000220"	"g.189867763G>A"	""	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702880"	"0"	"99"	"2"	"189867763"	"189867763"	"subst"	"0"	"00085"	"COL3A1_000220"	"g.189867763G>A"	""	"{PMID:Sadakata et al., 2010:20720362}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702881"	"21"	"99"	"2"	"189867769"	"189867769"	"dup"	"0"	"03704"	"COL3A1_000500"	"g.189867769dup"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702882"	"0"	"99"	"2"	"189867780"	"189867780"	"subst"	"0"	"00085"	"COL3A1_000003"	"g.189867780G>C"	""	"{PMID:van Bon et al., 2009:18804950}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702883"	"0"	"59"	"2"	"189867789"	"189867789"	"del"	"0"	"03707"	"COL3A1_000305"	"g.189867789del"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702884"	"0"	"99"	"2"	"189867789"	"189867789"	"del"	"0"	"03704"	"COL3A1_000305"	"g.189867789del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702885"	"0"	"99"	"2"	"189867789"	"189867789"	"subst"	"0"	"00736"	"COL3A1_000318"	"g.189867789G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702886"	"0"	"99"	"2"	"189867789"	"189867789"	"subst"	"0"	"03704"	"COL3A1_000318"	"g.189867789G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702887"	"0"	"99"	"2"	"189867789"	"189867789"	"subst"	"0"	"03711"	"COL3A1_000318"	"g.189867789G>A"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702888"	"0"	"99"	"2"	"189867789"	"189867789"	"subst"	"0"	"00085"	"COL3A1_000318"	"g.189867789G>A"	""	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702889"	"0"	"99"	"2"	"189867789"	"189867789"	"subst"	"0"	"03704"	"COL3A1_000501"	"g.189867789G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702890"	"0"	"99"	"2"	"189867789"	"189867789"	"subst"	"0"	"03704"	"COL3A1_000501"	"g.189867789G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702891"	"10"	"99"	"2"	"189867789"	"189867789"	"subst"	"0"	"00465"	"COL3A1_000226"	"g.189867789G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702892"	"0"	"99"	"2"	"189867790"	"189867790"	"subst"	"0"	"03704"	"COL3A1_000153"	"g.189867790T>C"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702893"	"0"	"99"	"2"	"189867790"	"189867790"	"subst"	"0"	"00085"	"COL3A1_000153"	"g.189867790T>C"	""	"{PMID:Richards et al., 1994:7849722}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702894"	"0"	"99"	"2"	"189867790"	"189867790"	"subst"	"0"	"03704"	"COL3A1_000153"	"g.189867790T>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702895"	"0"	"99"	"2"	"189867790"	"189867791"	"ins"	"0"	"00085"	"COL3A1_000173"	"g.189867790_189867791insTT"	""	"{PMID:Richards et al., 1994:7849722}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702896"	"0"	"99"	"2"	"189867791"	"189867791"	"subst"	"0"	"03704"	"COL3A1_000503"	"g.189867791A>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702897"	"20"	"79"	"2"	"189867793"	"189867793"	"subst"	"0"	"00465"	"COL3A1_000227"	"g.189867793G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702898"	"0"	"99"	"2"	"189868136"	"189868136"	"subst"	"0"	"03704"	"COL3A1_000245"	"g.189868136G>A"	""	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702899"	"0"	"99"	"2"	"189868137"	"189868137"	"subst"	"0"	"03704"	"COL3A1_000068"	"g.189868137G>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702900"	"0"	"99"	"2"	"189868138"	"189868138"	"subst"	"0"	"03704"	"COL3A1_000504"	"g.189868138G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702901"	"0"	"99"	"2"	"189868147"	"189868147"	"subst"	"0"	"03704"	"COL3A1_000215"	"g.189868147G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702902"	"0"	"99"	"2"	"189868147"	"189868147"	"subst"	"0"	"03711"	"COL3A1_000215"	"g.189868147G>A"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702903"	"0"	"79"	"2"	"189868147"	"189868147"	"subst"	"0"	"00475"	"COL3A1_000215"	"g.189868147G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702904"	"0"	"99"	"2"	"189868152"	"189868152"	"subst"	"0"	"00085"	"COL3A1_000257"	"g.189868152C>T"	""	"{PMID:Müller et al., 2012:22038052}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702905"	"0"	"99"	"2"	"189868156"	"189868156"	"subst"	"0"	"03704"	"COL3A1_000505"	"g.189868156G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702906"	"21"	"99"	"2"	"189868183"	"189868183"	"subst"	"0"	"03704"	"COL3A1_000506"	"g.189868183G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702907"	"0"	"99"	"2"	"189868194"	"189868197"	"del"	"0"	"00085"	"COL3A1_000267"	"g.189868194_189868197del"	""	"{PMID:Drera et al., 2011:22019127}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702908"	"0"	"99"	"2"	"189868195"	"189868195"	"subst"	"0"	"03704"	"COL3A1_000154"	"g.189868195G>A"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702909"	"0"	"99"	"2"	"189868195"	"189868195"	"subst"	"0"	"03704"	"COL3A1_000155"	"g.189868195G>T"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702910"	"0"	"99"	"2"	"189868460"	"189871716"	"del"	"0"	"03704"	"COL3A1_000584"	"g.189868460_189871716del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702911"	"0"	"77"	"2"	"189868485"	"189868485"	"subst"	"4.06171E-6"	"00085"	"COL3A1_000290"	"g.189868485G>A"	""	"{PMID:Kathiravel et al., 2012:23142374}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702912"	"0"	"99"	"2"	"189868488"	"189868488"	"subst"	"0"	"03704"	"COL3A1_000069"	"g.189868488G>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702913"	"0"	"99"	"2"	"189868497"	"189868497"	"subst"	"0"	"03704"	"COL3A1_000070"	"g.189868497G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702914"	"0"	"97"	"2"	"189868506"	"189868507"	"del"	"0"	"00085"	"COL3A1_000718"	"g.189868506_189868507del"	""	"{PMID:Henneton et al., 2019:30919682}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000702915"	"0"	"99"	"2"	"189868507"	"189868520"	"delins"	"0"	"03704"	"COL3A1_000238"	"g.189868507_189868520delinsGACCTGAGAC"	""	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702916"	"0"	"99"	"2"	"189868717"	"189868717"	"subst"	"0"	"00736"	"COL3A1_000286"	"g.189868717G>A"	""	"{PMID:Ferré et al., 2012:22492385}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702917"	"0"	"99"	"2"	"189868727"	"189868727"	"subst"	"0"	"00085"	"COL3A1_000071"	"g.189868727G>A"	""	"{PMID:Watanabe et al., 2002:11843319}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702918"	"0"	"99"	"2"	"189868727"	"189868727"	"subst"	"0"	"03704"	"COL3A1_000507"	"g.189868727G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702919"	"0"	"99"	"2"	"189868736"	"189868736"	"subst"	"0"	"00736"	"COL3A1_000344"	"g.189868736G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702920"	"0"	"99"	"2"	"189868745"	"189868745"	"subst"	"0"	"03704"	"COL3A1_000072"	"g.189868745G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702921"	"20"	"99"	"2"	"189868745"	"189868745"	"subst"	"0"	"03704"	"COL3A1_000072"	"g.189868745G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702922"	"0"	"99"	"2"	"189868754"	"189868754"	"subst"	"0"	"03704"	"COL3A1_000073"	"g.189868754G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702923"	"0"	"99"	"2"	"189868754"	"189868754"	"subst"	"0"	"00085"	"COL3A1_000073"	"g.189868754G>A"	""	"{PMID:Pope et al., 1996:8881656}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702924"	"11"	"99"	"2"	"189868754"	"189868754"	"subst"	"0"	"03704"	"COL3A1_000073"	"g.189868754G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702925"	"0"	"99"	"2"	"189868772"	"189868772"	"subst"	"0"	"00085"	"COL3A1_000074"	"g.189868772G>A"	""	"{PMID:Johnson et al., 1995:8680408}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702926"	"0"	"99"	"2"	"189868772"	"189868772"	"subst"	"0"	"03704"	"COL3A1_000075"	"g.189868772G>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702927"	"0"	"99"	"2"	"189868781"	"189868781"	"subst"	"0"	"00085"	"COL3A1_000295"	"g.189868781G>A"	""	"{PMID:Girardin et al., 2013:23567233}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702928"	"0"	"99"	"2"	"189868781"	"189868781"	"subst"	"0"	"00736"	"COL3A1_000295"	"g.189868781G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702929"	"0"	"99"	"2"	"189868781"	"189868781"	"subst"	"0"	"03704"	"COL3A1_000295"	"g.189868781G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702930"	"0"	"99"	"2"	"189868781"	"189868781"	"subst"	"0"	"00085"	"COL3A1_000268"	"g.189868781G>C"	""	"{PMID:Drera et al., 2011:22019127}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702931"	"0"	"99"	"2"	"189868781"	"189868781"	"subst"	"0"	"00736"	"COL3A1_000334"	"g.189868781G>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702932"	"0"	"99"	"2"	"189868799"	"189868799"	"subst"	"0"	"03704"	"COL3A1_000076"	"g.189868799G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702933"	"0"	"99"	"2"	"189868799"	"189868799"	"subst"	"0"	"03704"	"COL3A1_000076"	"g.189868799G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702934"	"0"	"99"	"2"	"189868799"	"189868799"	"subst"	"0"	"00736"	"COL3A1_000348"	"g.189868799G>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702935"	"0"	"99"	"2"	"189868816"	"189868816"	"subst"	"0"	"03704"	"COL3A1_000508"	"g.189868816G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702936"	"0"	"99"	"2"	"189868816"	"189868816"	"subst"	"0"	"03704"	"COL3A1_000508"	"g.189868816G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702937"	"0"	"99"	"2"	"189868816"	"189868816"	"subst"	"0"	"03704"	"COL3A1_000080"	"g.189868816G>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702938"	"0"	"99"	"2"	"189868816"	"189868816"	"subst"	"0"	"03704"	"COL3A1_000080"	"g.189868816G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702939"	"0"	"99"	"2"	"189868817"	"189868817"	"subst"	"0"	"03704"	"COL3A1_000509"	"g.189868817G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702940"	"0"	"99"	"2"	"189868817"	"189868817"	"subst"	"0"	"03711"	"COL3A1_000509"	"g.189868817G>A"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702941"	"0"	"99"	"2"	"189868817"	"189868817"	"subst"	"0"	"03704"	"COL3A1_000510"	"g.189868817G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702942"	"0"	"99"	"2"	"189868826"	"189868826"	"subst"	"0"	"03704"	"COL3A1_000511"	"g.189868826G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702943"	"0"	"99"	"2"	"189868835"	"189868835"	"subst"	"0"	"00085"	"COL3A1_000229"	"g.189868835G>A"	""	"{PMID:Pickup and Pollanen, 2010:21086191}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702944"	"0"	"99"	"2"	"189868843"	"189868843"	"subst"	"0"	"00085"	"COL3A1_000270"	"g.189868843G>A"	""	"{PMID:Drera et al., 2011:22019127}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702945"	"0"	"99"	"2"	"189868852"	"189868852"	"subst"	"0"	"00085"	"COL3A1_000082"	"g.189868852G>A"	""	"De Paepe et al., 1993 Am J Hum Genet 53(s3): 1150"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702946"	"0"	"99"	"2"	"189868852"	"189868852"	"subst"	"0"	"03704"	"COL3A1_000081"	"g.189868852G>C"	""	"{PMID:Smith et al., 1997:9036918} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702947"	"0"	"99"	"2"	"189868853"	"189868853"	"subst"	"0"	"00736"	"COL3A1_000313"	"g.189868853G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702948"	"0"	"99"	"2"	"189868861"	"189868861"	"subst"	"0"	"03704"	"COL3A1_000512"	"g.189868861G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702949"	"0"	"99"	"2"	"189868861"	"189868861"	"subst"	"0"	"03704"	"COL3A1_000513"	"g.189868861G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702950"	"0"	"99"	"2"	"189868862"	"189868862"	"subst"	"0"	"00085"	"COL3A1_000083"	"g.189868862G>A"	""	"{PMID:Johnson et al., 1995:8680408}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702951"	"0"	"99"	"2"	"189868862"	"189868862"	"subst"	"0"	"03707"	"COL3A1_000083"	"g.189868862G>A"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702952"	"0"	"99"	"2"	"189868862"	"189868862"	"subst"	"0"	"03711"	"COL3A1_000083"	"g.189868862G>A"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702953"	"0"	"99"	"2"	"189868870"	"189868870"	"subst"	"0"	"03704"	"COL3A1_000239"	"g.189868870G>A"	""	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702954"	"0"	"91"	"2"	"189868871"	"189868871"	"subst"	"0"	"00085"	"COL3A1_000751"	"g.189868871T>A"	""	"{PMID:Li et al., 2016:27975164}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000702955"	"0"	"99"	"2"	"189868982"	"189868982"	"subst"	"0"	"03704"	"COL3A1_000246"	"g.189868982G>A"	""	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702956"	"0"	"59"	"2"	"189868982"	"189868982"	"subst"	"0"	"03707"	"COL3A1_000246"	"g.189868982G>A"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702957"	"0"	"99"	"2"	"189868983"	"189868983"	"subst"	"0"	"03704"	"COL3A1_000514"	"g.189868983G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702958"	"0"	"99"	"2"	"189868984"	"189868984"	"subst"	"0"	"03704"	"COL3A1_000084"	"g.189868984G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702959"	"20"	"99"	"2"	"189868992"	"189868992"	"subst"	"0"	"03704"	"COL3A1_000515"	"g.189868992G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702960"	"0"	"99"	"2"	"189869001"	"189869001"	"subst"	"0"	"03704"	"COL3A1_000361"	"g.189869001G>A"	""	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702961"	"20"	"99"	"2"	"189869019"	"189869019"	"subst"	"0"	"03704"	"COL3A1_000516"	"g.189869019G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702962"	"20"	"99"	"2"	"189869020"	"189869020"	"subst"	"0"	"03704"	"COL3A1_000517"	"g.189869020G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702963"	"0"	"55"	"2"	"189869026"	"189869026"	"subst"	"0"	"01233"	"COL3A1_000658"	"g.189869026G>A"	""	"{PMID:Overwater et al., 2018:29907982}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000702964"	"0"	"99"	"2"	"189869028"	"189869028"	"subst"	"0"	"00085"	"COL3A1_000085"	"g.189869028G>A"	""	"{PMID:Tromp et al., 1989:2492273}, {PMID:Stolle 1985:2981879}"	""	"codon 790 GGT > AGT"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702965"	"0"	"99"	"2"	"189869028"	"189869028"	"subst"	"0"	"00736"	"COL3A1_000085"	"g.189869028G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702966"	"0"	"99"	"2"	"189869028"	"189869028"	"subst"	"0"	"03704"	"COL3A1_000518"	"g.189869028G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702967"	"0"	"99"	"2"	"189869029"	"189869029"	"subst"	"0"	"03704"	"COL3A1_000519"	"g.189869029G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702968"	"0"	"99"	"2"	"189869029"	"189869029"	"subst"	"0"	"03704"	"COL3A1_000520"	"g.189869029G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702969"	"0"	"99"	"2"	"189869029"	"189869029"	"subst"	"0"	"03704"	"COL3A1_000520"	"g.189869029G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702970"	"0"	"99"	"2"	"189869038"	"189869038"	"subst"	"0"	"00085"	"COL3A1_000086"	"g.189869038G>T"	""	"{PMID:Tromp et al., 1995:7749417}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702971"	"0"	"99"	"2"	"189869046"	"189869046"	"subst"	"0"	"03704"	"COL3A1_000521"	"g.189869046G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702972"	"0"	"99"	"2"	"189869046"	"189869046"	"subst"	"0"	"03704"	"COL3A1_000522"	"g.189869046G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702973"	"0"	"99"	"2"	"189869047"	"189869047"	"subst"	"0"	"03704"	"COL3A1_000523"	"g.189869047G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702974"	"0"	"99"	"2"	"189869055"	"189869055"	"subst"	"0"	"00085"	"COL3A1_000630"	"g.189869055G>T"	""	"{PMID:Abrahamsen et al., 2015:25940258}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702975"	"0"	"99"	"2"	"189869055"	"189869055"	"subst"	"0"	"03705"	"COL3A1_000630"	"g.189869055G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702976"	"0"	"99"	"2"	"189869056"	"189869056"	"subst"	"0"	"03704"	"COL3A1_000087"	"g.189869056G>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702977"	"0"	"99"	"2"	"189869056"	"189869056"	"subst"	"0"	"00085"	"COL3A1_000087"	"g.189869056G>T"	""	"{PMID:Drera et al., 2011:22019127}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702978"	"0"	"99"	"2"	"189869064"	"189869064"	"subst"	"0"	"03704"	"COL3A1_000524"	"g.189869064G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702979"	"0"	"99"	"2"	"189869073"	"189869073"	"subst"	"0"	"03704"	"COL3A1_000525"	"g.189869073G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702980"	"0"	"99"	"2"	"189869074"	"189869074"	"subst"	"0"	"03704"	"COL3A1_000526"	"g.189869074G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702981"	"0"	"99"	"2"	"189869074"	"189869074"	"subst"	"0"	"00736"	"COL3A1_000526"	"g.189869074G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702982"	"0"	"99"	"2"	"189869074"	"189869074"	"subst"	"0"	"03704"	"COL3A1_000088"	"g.189869074G>C"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702983"	"20"	"99"	"2"	"189869074"	"189869074"	"subst"	"0"	"03704"	"COL3A1_000088"	"g.189869074G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702984"	"0"	"99"	"2"	"189869083"	"189869083"	"subst"	"0"	"00736"	"COL3A1_000311"	"g.189869083G>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702985"	"0"	"99"	"2"	"189869083"	"189869083"	"subst"	"0"	"00085"	"COL3A1_000311"	"g.189869083G>T"	""	"{PMID:Singh et al., 2012:22226700}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702986"	"0"	"99"	"2"	"189869083"	"189869083"	"subst"	"0"	"03704"	"COL3A1_000311"	"g.189869083G>T"	""	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702987"	"0"	"99"	"2"	"189869083"	"189869083"	"subst"	"0"	"03704"	"COL3A1_000311"	"g.189869083G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702988"	"0"	"75"	"2"	"189869086"	"189869086"	"subst"	"0"	"00085"	"COL3A1_000687"	"g.189869086T>C"	""	"{PMID:Kaadan et al., 2018:29650765}"	""	""	""	"Unknown"	""	"rs886038939"	"0"	""	""	""	""	"VUS"	""
"0000702989"	"0"	"99"	"2"	"189869090"	"189869104"	"del"	"0"	"00085"	"COL3A1_000223"	"g.189869090_189869104del"	""	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702990"	"0"	"99"	"2"	"189869091"	"189869091"	"subst"	"0"	"03704"	"COL3A1_000156"	"g.189869091G>A"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702991"	"0"	"99"	"2"	"189869091"	"189869091"	"subst"	"0"	"03704"	"COL3A1_000156"	"g.189869091G>A"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702992"	"0"	"99"	"2"	"189869091"	"189869091"	"subst"	"0"	"00085"	"COL3A1_000156"	"g.189869091G>A"	""	"{PMID:Cole et al., 1990:2145268}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702993"	"0"	"99"	"2"	"189869091"	"189869091"	"subst"	"0"	"03704"	"COL3A1_000156"	"g.189869091G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702994"	"0"	"99"	"2"	"189869091"	"189869091"	"subst"	"0"	"03704"	"COL3A1_000156"	"g.189869091G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702995"	"0"	"99"	"2"	"189869091"	"189869091"	"subst"	"0"	"03704"	"COL3A1_000156"	"g.189869091G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702996"	"20"	"99"	"2"	"189869091"	"189869091"	"subst"	"0"	"03705"	"COL3A1_000156"	"g.189869091G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702997"	"0"	"99"	"2"	"189869091"	"189869091"	"subst"	"0"	"00085"	"COL3A1_000156"	"g.189869091G>A"	""	"{PMID:Sillence et al., 1991:1757960}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702998"	"0"	"99"	"2"	"189869091"	"189869091"	"subst"	"0"	"00736"	"COL3A1_000356"	"g.189869091G>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000702999"	"0"	"99"	"2"	"189869092"	"189869092"	"subst"	"0"	"00085"	"COL3A1_000224"	"g.189869092T>G"	""	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703000"	"0"	"99"	"2"	"189870076"	"189870076"	"subst"	"0"	"00085"	"COL3A1_000675"	"g.189870076G>C"	""	"{PMID:Gu et al., 2018:29216800}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703001"	"0"	"99"	"2"	"189870076"	"189870076"	"subst"	"0"	"00085"	"COL3A1_000089"	"g.189870076G>T"	""	"{PMID:Demirogullari et al., 2006:16863833}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703002"	"0"	"99"	"2"	"189870077"	"189870077"	"subst"	"0"	"03704"	"COL3A1_000527"	"g.189870077G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703003"	"0"	"99"	"2"	"189870079"	"189870079"	"subst"	"0"	"03704"	"COL3A1_000240"	"g.189870079G>T"	""	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703004"	"0"	"97"	"2"	"189870082"	"189870091"	"delins"	"0"	"00085"	"COL3A1_000719"	"g.189870082_189870091delinsCGGTCT"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703005"	"0"	"99"	"2"	"189870083"	"189870091"	"delins"	"0"	"00736"	"COL3A1_000319"	"g.189870083_189870091delinsCGGTCT"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703006"	"0"	"99"	"2"	"189870085"	"189870085"	"subst"	"0"	"03704"	"COL3A1_000528"	"g.189870085G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703007"	"0"	"99"	"2"	"189870085"	"189870085"	"subst"	"0"	"03704"	"COL3A1_000529"	"g.189870085G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703008"	"0"	"99"	"2"	"189870094"	"189870094"	"subst"	"0"	"00085"	"COL3A1_000624"	"g.189870094G>A"	""	"{PMID:Deng et al., 2015:25776230}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703009"	"0"	"99"	"2"	"189870094"	"189870095"	"delins"	"0"	"03704"	"COL3A1_000090"	"g.189870094_189870095delinsAC"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703010"	"0"	"99"	"2"	"189870095"	"189870095"	"subst"	"0"	"00736"	"COL3A1_000337"	"g.189870095G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703011"	"0"	"11"	"2"	"189870102"	"189870102"	"subst"	"8.12308E-5"	"00085"	"COL3A1_000188"	"g.189870102C>T"	""	"{PMID:Chan et al., 2008:18272325}"	""	""	""	"Unknown"	""	"rs41264441"	"0"	""	""	""	""	"likely benign"	""
"0000703012"	"0"	"99"	"2"	"189870103"	"189870103"	"subst"	"0"	"00736"	"COL3A1_000327"	"g.189870103G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703013"	"0"	"99"	"2"	"189870103"	"189870103"	"subst"	"0"	"03704"	"COL3A1_000327"	"g.189870103G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703014"	"0"	"99"	"2"	"189870103"	"189870103"	"subst"	"0"	"00736"	"COL3A1_000327"	"g.189870103G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703015"	"0"	"97"	"2"	"189870103"	"189870103"	"subst"	"0"	"00085"	"COL3A1_000327"	"g.189870103G>A"	""	"{PMID:Lan et al., 2018:29778910}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703016"	"0"	"99"	"2"	"189870104"	"189870104"	"subst"	"0"	"00736"	"COL3A1_000607"	"g.189870104G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703017"	"0"	"99"	"2"	"189870121"	"189870121"	"subst"	"0"	"03704"	"COL3A1_000530"	"g.189870121G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703018"	"0"	"99"	"2"	"189870122"	"189870122"	"subst"	"0"	"03704"	"COL3A1_000531"	"g.189870122G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703019"	"0"	"99"	"2"	"189870122"	"189870122"	"subst"	"0"	"00085"	"COL3A1_000531"	"g.189870122G>A"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703020"	"0"	"99"	"2"	"189870130"	"189870130"	"subst"	"0"	"00085"	"COL3A1_000271"	"g.189870130G>A"	""	"{PMID:Drera et al., 2011:22019127}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703021"	"0"	"99"	"2"	"189870131"	"189870131"	"subst"	"0"	"03704"	"COL3A1_000091"	"g.189870131G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703022"	"0"	"99"	"2"	"189870131"	"189870131"	"subst"	"0"	"00085"	"COL3A1_000091"	"g.189870131G>A"	""	"{PMID:Jansen et al., 2001:11359405}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703023"	"0"	"99"	"2"	"189870131"	"189870131"	"subst"	"0"	"00085"	"COL3A1_000720"	"g.189870131G>T"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703024"	"0"	"99"	"2"	"189870136"	"189870136"	"subst"	"0"	"00085"	"COL3A1_000192"	"g.189870136C>T"	""	"{PMID:Naing et al., 2011:21219851}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703025"	"0"	"99"	"2"	"189870139"	"189870139"	"subst"	"0"	"03704"	"COL3A1_000532"	"g.189870139G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703026"	"0"	"99"	"2"	"189870139"	"189870139"	"subst"	"0"	"03704"	"COL3A1_000092"	"g.189870139G>C"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703027"	"0"	"99"	"2"	"189870139"	"189870139"	"subst"	"0"	"00085"	"COL3A1_000721"	"g.189870139G>T"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703028"	"0"	"99"	"2"	"189870140"	"189870140"	"subst"	"0"	"00085"	"COL3A1_000289"	"g.189870140G>A"	""	"{PMID:Sa et al., 2012:23052746}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703029"	"0"	"99"	"2"	"189870140"	"189870140"	"subst"	"0"	"00085"	"COL3A1_000289"	"g.189870140G>A"	""	"{PMID:Ruggeri et al., 2015:26029576}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703030"	"0"	"99"	"2"	"189870167"	"189870167"	"subst"	"0"	"03704"	"COL3A1_000533"	"g.189870167G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703031"	"0"	"99"	"2"	"189870176"	"189870176"	"subst"	"0"	"03704"	"COL3A1_000093"	"g.189870176G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703032"	"0"	"99"	"2"	"189870184"	"189870184"	"subst"	"0"	"00085"	"COL3A1_000167"	"g.189870184G>A"	""	"{PMID:Kuivaniemi et al., 1990:2365710}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703033"	"0"	"59"	"2"	"189870184"	"189870184"	"subst"	"0"	"03707"	"COL3A1_000167"	"g.189870184G>A"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703034"	"0"	"99"	"2"	"189870184"	"189870184"	"subst"	"0"	"03704"	"COL3A1_000167"	"g.189870184G>A"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703035"	"0"	"99"	"2"	"189870184"	"189870184"	"subst"	"0"	"03704"	"COL3A1_000167"	"g.189870184G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703036"	"0"	"99"	"2"	"189870184"	"189870184"	"subst"	"0"	"00736"	"COL3A1_000167"	"g.189870184G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703037"	"0"	"99"	"2"	"189870188"	"189870188"	"subst"	"0"	"00085"	"COL3A1_000180"	"g.189870188G>A"	""	"{PMID:Okita et al., 2009:19543901}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703038"	"0"	"99"	"2"	"189870188"	"189870188"	"subst"	"0"	"00085"	"COL3A1_000180"	"g.189870188G>A"	""	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703039"	"0"	"99"	"2"	"189870188"	"189870188"	"subst"	"0"	"00736"	"COL3A1_000180"	"g.189870188G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703040"	"0"	"99"	"2"	"189870188"	"189870188"	"subst"	"0"	"03704"	"COL3A1_000180"	"g.189870188G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703041"	"0"	"99"	"2"	"189870188"	"189870188"	"subst"	"0"	"00085"	"COL3A1_000171"	"g.189870188G>C"	""	"{PMID:Giunta and Steinmann, 2000:10923041}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703042"	"0"	"99"	"2"	"189870336"	"189873090"	"del"	"0"	"03704"	"COL3A1_000534"	"g.189870336_189873090del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703043"	"0"	"99"	"2"	"189870805"	"189871823"	"del"	"0"	"03704"	"COL3A1_000535"	"g.189870805_189871823del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703044"	"0"	"99"	"2"	"189870933"	"189870933"	"subst"	"0"	"00085"	"COL3A1_000094"	"g.189870933G>A"	""	"{PMID:Richards et al., 1992:1352273}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703045"	"0"	"99"	"2"	"189870933"	"189870933"	"subst"	"0"	"03704"	"COL3A1_000094"	"g.189870933G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703046"	"0"	"99"	"2"	"189870942"	"189870942"	"subst"	"0"	"00736"	"COL3A1_000325"	"g.189870942G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703047"	"0"	"99"	"2"	"189870951"	"189870951"	"subst"	"0"	"00085"	"COL3A1_000722"	"g.189870951G>A"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703048"	"0"	"99"	"2"	"189867890"	"189867890"	"del"	"0"	"03704"	"COL3A1_000536"	"g.189867890del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703049"	"0"	"37"	"2"	"189870953"	"189870953"	"subst"	"0.000402158"	"00736"	"COL3A1_000608"	"g.189870953C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703050"	"0"	"99"	"2"	"189870962"	"189870962"	"subst"	"0"	"03704"	"COL3A1_000241"	"g.189870962C>T"	""	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703051"	"11"	"99"	"2"	"189870962"	"189870962"	"subst"	"0"	"03707"	"COL3A1_000241"	"g.189870962C>T"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703052"	"0"	"99"	"2"	"189870986"	"189870986"	"subst"	"0"	"00085"	"COL3A1_000172"	"g.189870986G>A"	""	"{PMID:Pope et al., 1996:8881656}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703053"	"0"	"99"	"2"	"189870987"	"189870987"	"subst"	"0"	"03704"	"COL3A1_000157"	"g.189870987T>C"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703054"	"0"	"99"	"2"	"189870987"	"189870987"	"subst"	"0"	"03704"	"COL3A1_000157"	"g.189870987T>C"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703055"	"0"	"99"	"2"	"189870987"	"189870987"	"subst"	"0"	"00085"	"COL3A1_000157"	"g.189870987T>C"	""	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703056"	"0"	"59"	"2"	"189870987"	"189870987"	"subst"	"0"	"03707"	"COL3A1_000157"	"g.189870987T>C"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703057"	"0"	"99"	"2"	"189870987"	"189870987"	"subst"	"0"	"03704"	"COL3A1_000157"	"g.189870987T>C"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703058"	"0"	"99"	"2"	"189870987"	"189870987"	"subst"	"0"	"03704"	"COL3A1_000157"	"g.189870987T>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703059"	"0"	"99"	"2"	"189870987"	"189870987"	"subst"	"0"	"03704"	"COL3A1_000157"	"g.189870987T>G"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703060"	"0"	"99"	"2"	"189871072"	"189871072"	"subst"	"0"	"03704"	"COL3A1_000095"	"g.189871072G>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703061"	"0"	"99"	"2"	"189871080"	"189871080"	"subst"	"0"	"03704"	"COL3A1_000096"	"g.189871080G>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703062"	"0"	"99"	"2"	"189871081"	"189871081"	"subst"	"0"	"03704"	"COL3A1_000537"	"g.189871081G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703063"	"0"	"99"	"2"	"189871090"	"189871090"	"subst"	"0"	"00736"	"COL3A1_000353"	"g.189871090G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703064"	"0"	"99"	"2"	"189871099"	"189871099"	"subst"	"0"	"00736"	"COL3A1_000354"	"g.189871099G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703065"	"20"	"99"	"2"	"189871099"	"189871099"	"subst"	"0"	"03704"	"COL3A1_000538"	"g.189871099G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703066"	"21"	"99"	"2"	"189871101"	"189871118"	"dup"	"0"	"00085"	"COL3A1_000678"	"g.189871101_189871118dup"	""	"{PMID:Kiss et al., 2017:29725758}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703067"	"0"	"99"	"2"	"189871108"	"189871108"	"subst"	"0"	"00085"	"COL3A1_000097"	"g.189871108G>A"	""	"{PMID:Nishiyama et al., 2001:11168790}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703068"	"0"	"55"	"2"	"189871110"	"189871110"	"subst"	"0.00056875"	"00085"	"COL3A1_000747"	"g.189871110G>A"	""	"{PMID:Sakai et al., 2011:22001912}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000703069"	"0"	"11"	"2"	"189871110"	"189871110"	"subst"	"0.00056875"	"00085"	"COL3A1_000747"	"g.189871110G>A"	""	"{PMID:Wang et al., 2018:30115950}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000703070"	"20"	"99"	"2"	"189871117"	"189871117"	"subst"	"0"	"03704"	"COL3A1_000539"	"g.189871117G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703071"	"21"	"99"	"2"	"189871117"	"189871117"	"subst"	"0"	"00085"	"COL3A1_000539"	"g.189871117G>A"	""	"{PMID:Cortini et al., 2017:28183226}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703072"	"0"	"99"	"2"	"189871126"	"189871126"	"subst"	"0"	"00085"	"COL3A1_000098"	"g.189871126G>A"	""	"{PMID:Tromp et al., 1989:2808425}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703073"	"0"	"99"	"2"	"189871126"	"189871126"	"subst"	"0"	"03704"	"COL3A1_000099"	"g.189871126G>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703074"	"0"	"99"	"2"	"189871126"	"189871126"	"subst"	"0"	"00085"	"COL3A1_000099"	"g.189871126G>T"	""	"{PMID:Palmeri et al., 2003:12786757}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703075"	"10"	"99"	"2"	"189871134"	"189871134"	"subst"	"0"	"03704"	"COL3A1_000540"	"g.189871134G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703076"	"0"	"99"	"2"	"189871135"	"189871135"	"subst"	"0"	"00085"	"COL3A1_000586"	"g.189871135G>A"	""	"{PMID:Ananth et al., 2014:25149929}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703077"	"0"	"99"	"2"	"189871143"	"189871143"	"subst"	"4.06286E-6"	"00736"	"COL3A1_000609"	"g.189871143G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703078"	"20"	"99"	"2"	"189871144"	"189871144"	"subst"	"0"	"03704"	"COL3A1_000541"	"g.189871144G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703079"	"20"	"99"	"2"	"189871144"	"189871144"	"subst"	"0"	"03704"	"COL3A1_000541"	"g.189871144G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703080"	"0"	"99"	"2"	"189871152"	"189871152"	"subst"	"0"	"00085"	"COL3A1_000670"	"g.189871152G>A"	""	"{PMID:Sakai et al., 2019:31391389}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703081"	"0"	"99"	"2"	"189871153"	"189871153"	"subst"	"0"	"03704"	"COL3A1_000542"	"g.189871153G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703082"	"0"	"99"	"2"	"189871170"	"189871170"	"subst"	"0"	"03704"	"COL3A1_000543"	"g.189871170G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703083"	"3"	"33"	"2"	"189871176"	"189871176"	"subst"	"1.21938E-5"	"00085"	"COL3A1_000690"	"g.189871176A>T"	""	"{PMID:Komem et al., 2019:31339471}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"benign"	""
"0000703084"	"0"	"77"	"2"	"189871180"	"189871180"	"subst"	"0"	"00085"	"COL3A1_000686"	"g.189871180T>C"	""	"{PMID:Shalhub et al., 2019:30793832}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703085"	"0"	"97"	"2"	"189871180"	"189871180"	"subst"	"0"	"00085"	"COL3A1_000686"	"g.189871180T>C"	""	"{PMID:Shalhub et al., 2014:24650746}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703086"	"0"	"99"	"2"	"189871222"	"189871819"	"del"	"0"	"00085"	"COL3A1_000134"	"g.189871222_189871819del"	""	"{PMID:Giunta and Steinmann, 2000:10923041}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703087"	"0"	"99"	"2"	"189871661"	"189871661"	"subst"	"0"	"00085"	"COL3A1_000178"	"g.189871661A>G"	""	"{PMID:Burk et al., 2007:17224388}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703088"	"0"	"99"	"2"	"189871661"	"189871661"	"subst"	"0"	"00736"	"COL3A1_000178"	"g.189871661A>G"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703089"	"0"	"99"	"2"	"189871661"	"189871661"	"subst"	"0"	"03704"	"COL3A1_000178"	"g.189871661A>G"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703090"	"0"	"99"	"2"	"189871664"	"189871664"	"subst"	"0"	"03704"	"COL3A1_000544"	"g.189871664G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703091"	"0"	"99"	"2"	"189871673"	"189871673"	"subst"	"0"	"03704"	"COL3A1_000100"	"g.189871673G>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703092"	"21"	"99"	"2"	"189871680"	"189871683"	"dup"	"0"	"01233"	"COL3A1_000652"	"g.189871680_189871683dup"	""	"{PMID:Overwater et al., 2018:29907982}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703093"	"0"	"99"	"2"	"189871681"	"189871681"	"subst"	"0"	"03704"	"COL3A1_000545"	"g.189871681G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703094"	"0"	"99"	"2"	"189871682"	"189871696"	"dup"	"0"	"00085"	"COL3A1_000135"	"g.189871682_189871696dup"	""	"{PMID:Yang et al., 2007:17728513}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703095"	"10"	"99"	"2"	"189871684"	"189871701"	"del"	"0"	"03704"	"COL3A1_000546"	"g.189871684_189871701del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703096"	"0"	"99"	"2"	"189871690"	"189871690"	"subst"	"0"	"03705"	"COL3A1_000665"	"g.189871690G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703097"	"0"	"99"	"2"	"189871691"	"189871691"	"subst"	"0"	"00085"	"COL3A1_000101"	"g.189871691G>T"	""	"{PMID:Richards et al., 1991:1895316}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703098"	"0"	"99"	"2"	"189871691"	"189871691"	"subst"	"0"	"03704"	"COL3A1_000101"	"g.189871691G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703099"	"0"	"99"	"2"	"189871700"	"189871700"	"subst"	"0"	"03704"	"COL3A1_000547"	"g.189871700G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703100"	"0"	"77"	"2"	"189871706"	"189871706"	"subst"	"4.06415E-5"	"00736"	"COL3A1_000320"	"g.189871706G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703101"	"0"	"99"	"2"	"189871717"	"189871717"	"subst"	"0"	"03704"	"COL3A1_000159"	"g.189871717G>A"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703102"	"0"	"99"	"2"	"189871717"	"189871717"	"subst"	"0"	"00085"	"COL3A1_000159"	"g.189871717G>A"	""	"{PMID:Shimaoka et al. 2010:20518783}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703103"	"0"	"99"	"2"	"189871721"	"189871721"	"subst"	"0"	"00085"	"COL3A1_000158"	"g.189871721G>A"	""	"{PMID:Schwarze et al., 1997:9399899}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703104"	"0"	"99"	"2"	"189871721"	"189871721"	"subst"	"0"	"00736"	"COL3A1_000158"	"g.189871721G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703105"	"20"	"99"	"2"	"189871721"	"189871721"	"subst"	"0"	"03704"	"COL3A1_000158"	"g.189871721G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703106"	"0"	"99"	"2"	"189872183"	"189872183"	"subst"	"0"	"03704"	"COL3A1_000548"	"g.189872183T>G"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703107"	"0"	"99"	"2"	"189872226"	"189872226"	"subst"	"0"	"00085"	"COL3A1_000249"	"g.189872226G>T"	""	"{PMID:Rana et al., 2011:21699676}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703108"	"0"	"99"	"2"	"189872227"	"189872236"	"del"	"0"	"00085"	"COL3A1_000671"	"g.189872227_189872236del"	""	"{PMID:Olson et al., 2019:31394236}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703109"	"0"	"99"	"2"	"189872227"	"189872236"	"del"	"0"	"00085"	"COL3A1_000750"	"g.189872227_189872236del"	""	"{PMID:Olson et al., 2019:31394236}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703110"	"0"	"99"	"2"	"189872236"	"189872236"	"subst"	"0"	"03704"	"COL3A1_000102"	"g.189872236G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703111"	"0"	"99"	"2"	"189872245"	"189872245"	"subst"	"0"	"03704"	"COL3A1_000549"	"g.189872245G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703112"	"0"	"99"	"2"	"189872254"	"189872254"	"subst"	"0"	"03704"	"COL3A1_000550"	"g.189872254G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703113"	"0"	"99"	"2"	"189872254"	"189872254"	"subst"	"0"	"03704"	"COL3A1_000550"	"g.189872254G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703114"	"0"	"99"	"2"	"189872263"	"189872263"	"subst"	"0"	"00085"	"COL3A1_000103"	"g.189872263G>A"	""	"{PMID:Giunta and Steinmann, 2000:10923041}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703115"	"0"	"99"	"2"	"189872263"	"189872263"	"subst"	"0"	"03704"	"COL3A1_000104"	"g.189872263G>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703116"	"20"	"99"	"2"	"189872271"	"189872271"	"subst"	"0"	"03704"	"COL3A1_000551"	"g.189872271G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703117"	"0"	"99"	"2"	"189872271"	"189872271"	"subst"	"0"	"03704"	"COL3A1_000551"	"g.189872271G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703118"	"0"	"99"	"2"	"189872272"	"189872272"	"subst"	"0"	"00085"	"COL3A1_000105"	"g.189872272G>A"	""	"{PMID:McGrory et al., 1996:9147870}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703119"	"0"	"99"	"2"	"189872281"	"189872281"	"subst"	"0"	"00085"	"COL3A1_000106"	"g.189872281G>C"	""	"Goldstein et al., 1994 Matrix Biol 14:392-393"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703120"	"21"	"99"	"2"	"189872289"	"189872289"	"subst"	"0"	"03704"	"COL3A1_000552"	"g.189872289G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703121"	"10"	"99"	"2"	"189872295"	"189872295"	"subst"	"0"	"03704"	"COL3A1_000553"	"g.189872295C>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703122"	"11"	"99"	"2"	"189872317"	"189872317"	"subst"	"0"	"03704"	"COL3A1_000554"	"g.189872317G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703123"	"0"	"99"	"2"	"189872326"	"189872326"	"subst"	"0"	"03704"	"COL3A1_000555"	"g.189872326G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703124"	"0"	"99"	"2"	"189872609"	"189872609"	"subst"	"0"	"03704"	"COL3A1_000160"	"g.189872609A>C"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703125"	"10"	"99"	"2"	"189872609"	"189872609"	"subst"	"0"	"03704"	"COL3A1_000160"	"g.189872609A>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703126"	"0"	"99"	"2"	"189872609"	"189872609"	"subst"	"0"	"00736"	"COL3A1_000282"	"g.189872609A>G"	""	"{PMID:Ferré et al., 2012:22492385}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703127"	"0"	"99"	"2"	"189872610"	"189872610"	"subst"	"0"	"00736"	"COL3A1_000610"	"g.189872610G>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703128"	"0"	"99"	"2"	"189872630"	"189872630"	"subst"	"0"	"00085"	"COL3A1_000723"	"g.189872630G>A"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703129"	"21"	"99"	"2"	"189872638"	"189872638"	"subst"	"0"	"03704"	"COL3A1_000556"	"g.189872638G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703130"	"10"	"99"	"2"	"189872657"	"189872657"	"subst"	"0"	"03704"	"COL3A1_000557"	"g.189872657G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703131"	"10"	"99"	"2"	"189872657"	"189872657"	"subst"	"0"	"03704"	"COL3A1_000557"	"g.189872657G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703132"	"0"	"99"	"2"	"189872657"	"189872657"	"subst"	"0"	"00085"	"COL3A1_000557"	"g.189872657G>A"	""	"{PMID:Campens et al., 2015:25644172}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703133"	"0"	"99"	"2"	"189872657"	"189872657"	"subst"	"0"	"00085"	"COL3A1_000557"	"g.189872657G>A"	""	"{PMID:Hamel et al., 1997:9712532}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703134"	"0"	"99"	"2"	"189872665"	"189872665"	"subst"	"0"	"00085"	"COL3A1_000272"	"g.189872665G>A"	""	"{PMID:Drera et al., 2011:22019127}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703135"	"0"	"99"	"2"	"189872665"	"189872665"	"subst"	"0"	"03704"	"COL3A1_000272"	"g.189872665G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703136"	"20"	"99"	"2"	"189872665"	"189872665"	"subst"	"0"	"03704"	"COL3A1_000558"	"g.189872665G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703137"	"10"	"99"	"2"	"189872665"	"189872665"	"subst"	"0"	"03704"	"COL3A1_000558"	"g.189872665G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703138"	"10"	"99"	"2"	"189872665"	"189872665"	"subst"	"0"	"03704"	"COL3A1_000559"	"g.189872665G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703139"	"0"	"99"	"2"	"189872668"	"189872669"	"del"	"0"	"03704"	"COL3A1_000560"	"g.189872668_189872669del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	"3417+4_+5del"	""	"Unknown"	""	""	"0"	""	""	"g.189007942_189007943del"	""	"pathogenic"	""
"0000703140"	"0"	"99"	"2"	"189872669"	"189872669"	"subst"	"0"	"00085"	"COL3A1_000288"	"g.189872669G>A"	""	"{PMID:Gudmundsdottir et al., 2012:22647446} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703141"	"0"	"99"	"2"	"189872669"	"189872669"	"subst"	"0"	"00736"	"COL3A1_000288"	"g.189872669G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703142"	"0"	"99"	"2"	"189872759"	"189872759"	"subst"	"0"	"00085"	"COL3A1_000179"	"g.189872759A>C"	""	"{PMID:Lund, 2005:16513057}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703143"	"0"	"99"	"2"	"189872759"	"189872759"	"subst"	"0"	"03704"	"COL3A1_000562"	"g.189872759A>G"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703144"	"0"	"77"	"2"	"189872759"	"189872759"	"subst"	"0"	"00085"	"COL3A1_000562"	"g.189872759A>G"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703145"	"0"	"99"	"2"	"189872759"	"189872759"	"subst"	"0"	"03704"	"COL3A1_000372"	"g.189872759A>T"	""	"{PMID:Schwarze et al., 1997:9399899} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703146"	"0"	"99"	"2"	"189872760"	"189872760"	"subst"	"0"	"03704"	"COL3A1_000561"	"g.189872760G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703147"	"20"	"99"	"2"	"189872762"	"189872762"	"subst"	"0"	"03704"	"COL3A1_000563"	"g.189872762G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703148"	"0"	"99"	"2"	"189872771"	"189872771"	"subst"	"0"	"00085"	"COL3A1_000291"	"g.189872771G>A"	""	"{PMID:Masuno et al., 2012:23181496}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703149"	"0"	"99"	"2"	"189872773"	"189872799"	"del"	"0"	"03704"	"COL3A1_000370"	"g.189872773_189872799del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703150"	"0"	"99"	"2"	"189872780"	"189872780"	"subst"	"0"	"03704"	"COL3A1_000564"	"g.189872780G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703151"	"0"	"99"	"2"	"189872783"	"189872809"	"del"	"0"	"03704"	"COL3A1_000371"	"g.189872783_189872809del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703152"	"0"	"99"	"2"	"189872784"	"189872828"	"dup"	"0"	"00736"	"COL3A1_000323"	"g.189872784_189872828dup"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703153"	"0"	"99"	"2"	"189872789"	"189872789"	"subst"	"0"	"00736"	"COL3A1_000612"	"g.189872789G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703154"	"0"	"99"	"2"	"189872789"	"189872789"	"subst"	"0"	"01233"	"COL3A1_000612"	"g.189872789G>A"	""	"{PMID:Overwater et al., 2018:29907982}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703155"	"0"	"99"	"2"	"189872815"	"189872815"	"subst"	"0"	"03704"	"COL3A1_000565"	"g.189872815G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703156"	"0"	"99"	"2"	"189872816"	"189872816"	"subst"	"0"	"03704"	"COL3A1_000566"	"g.189872816G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703157"	"0"	"99"	"2"	"189872825"	"189872825"	"subst"	"0"	"00736"	"COL3A1_000324"	"g.189872825G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703158"	"20"	"99"	"2"	"189872825"	"189872825"	"subst"	"0"	"03704"	"COL3A1_000324"	"g.189872825G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703159"	"0"	"99"	"2"	"189872825"	"189872825"	"subst"	"0"	"03704"	"COL3A1_000107"	"g.189872825G>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703160"	"0"	"99"	"2"	"189872829"	"189872832"	"delins"	"0"	"00736"	"COL3A1_000611"	"g.189872829_189872832delinsT"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703161"	"0"	"99"	"2"	"189872833"	"189872833"	"subst"	"0"	"03704"	"COL3A1_000108"	"g.189872833G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703162"	"0"	"99"	"2"	"189872833"	"189872833"	"subst"	"0"	"00736"	"COL3A1_000108"	"g.189872833G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703163"	"0"	"99"	"2"	"189872833"	"189872833"	"subst"	"0"	"03704"	"COL3A1_000108"	"g.189872833G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703164"	"0"	"99"	"2"	"189872833"	"189872833"	"subst"	"0"	"03704"	"COL3A1_000567"	"g.189872833G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703165"	"0"	"99"	"2"	"189872833"	"189872833"	"subst"	"0"	"00085"	"COL3A1_000109"	"g.189872833G>T"	""	"{PMID:Lund, 2005:16513057}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703166"	"0"	"99"	"2"	"189872833"	"189872833"	"subst"	"0"	"03704"	"COL3A1_000109"	"g.189872833G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703167"	"0"	"99"	"2"	"189872833"	"189872833"	"subst"	"0"	"03704"	"COL3A1_000109"	"g.189872833G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703168"	"0"	"99"	"2"	"189872834"	"189872834"	"subst"	"0"	"03704"	"COL3A1_000110"	"g.189872834G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703169"	"0"	"99"	"2"	"189872834"	"189872834"	"subst"	"0"	"03704"	"COL3A1_000110"	"g.189872834G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703170"	"0"	"99"	"2"	"189872834"	"189872834"	"subst"	"0"	"03704"	"COL3A1_000110"	"g.189872834G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703171"	"0"	"99"	"2"	"189872834"	"189872834"	"subst"	"0"	"00085"	"COL3A1_000110"	"g.189872834G>A"	""	"{PMID:Qin et al., 2016:26944031}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703172"	"0"	"99"	"2"	"189872834"	"189872834"	"subst"	"0"	"03704"	"COL3A1_000568"	"g.189872834G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703173"	"1"	"99"	"2"	"189872839"	"189872839"	"subst"	"0"	"03704"	"COL3A1_000242"	"g.189872839C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703174"	"20"	"99"	"2"	"189872842"	"189872842"	"subst"	"0"	"03704"	"COL3A1_000569"	"g.189872842G>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703175"	"0"	"99"	"2"	"189872842"	"189872842"	"subst"	"0"	"03707"	"COL3A1_000299"	"g.189872842G>T"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703176"	"0"	"99"	"2"	"189872842"	"189872842"	"subst"	"0"	"03704"	"COL3A1_000299"	"g.189872842G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703177"	"0"	"99"	"2"	"189872843"	"189872843"	"subst"	"0"	"00085"	"COL3A1_000111"	"g.189872843G>T"	""	"{PMID:Johnson et al., 1995:8680408}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703178"	"20"	"99"	"2"	"189872843"	"189872843"	"subst"	"0"	"03704"	"COL3A1_000111"	"g.189872843G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703179"	"0"	"99"	"2"	"189872851"	"189872851"	"subst"	"0"	"00085"	"COL3A1_000273"	"g.189872851G>A"	""	"{PMID:Drera et al., 2011:22019127}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703180"	"0"	"99"	"2"	"189872851"	"189872851"	"subst"	"0"	"03704"	"COL3A1_000273"	"g.189872851G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703181"	"0"	"19"	"2"	"189872851"	"189872851"	"subst"	"0"	"00085"	"COL3A1_000273"	"g.189872851G>A"	""	"{PMID:Busch et al., 2016:27488172}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703182"	"0"	"99"	"2"	"189872852"	"189872852"	"subst"	"0"	"00085"	"COL3A1_000112"	"g.189872852G>A"	""	"{PMID:Johnson et al., 1995:8680408}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703183"	"0"	"99"	"2"	"189872852"	"189872852"	"subst"	"0"	"00085"	"COL3A1_000112"	"g.189872852G>A"	""	"{PMID:Mackay et al., 1996:8884076}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703184"	"0"	"99"	"2"	"189872852"	"189872852"	"subst"	"0"	"03704"	"COL3A1_000112"	"g.189872852G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703185"	"0"	"99"	"2"	"189872852"	"189872852"	"subst"	"0"	"00085"	"COL3A1_000112"	"g.189872852G>A"	""	"{PMID:Lund, 2005:16513057}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703186"	"0"	"99"	"2"	"189872852"	"189872852"	"subst"	"0"	"00085"	"COL3A1_000112"	"g.189872852G>A"	""	"{PMID:Drera et al., 2011:22019127}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703187"	"0"	"99"	"2"	"189872852"	"189872852"	"subst"	"0"	"00085"	"COL3A1_000112"	"g.189872852G>A"	""	"{PMID:Drera et al., 2011:22019127}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703188"	"0"	"99"	"2"	"189872852"	"189872852"	"subst"	"0"	"00736"	"COL3A1_000112"	"g.189872852G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703189"	"0"	"99"	"2"	"189872852"	"189872852"	"subst"	"0"	"03704"	"COL3A1_000113"	"g.189872852G>T"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703190"	"0"	"97"	"2"	"189872854"	"189872854"	"subst"	"0"	"00736"	"COL3A1_000349"	"g.189872854G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703191"	"0"	"57"	"2"	"189872854"	"189872854"	"subst"	"0"	"03711"	"COL3A1_000349"	"g.189872854G>A"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703192"	"0"	"99"	"2"	"189872860"	"189872860"	"subst"	"0"	"03704"	"COL3A1_000570"	"g.189872860G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703193"	"0"	"99"	"2"	"189872860"	"189872860"	"subst"	"0"	"03704"	"COL3A1_000570"	"g.189872860G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703194"	"0"	"99"	"2"	"189872860"	"189872860"	"subst"	"0"	"00085"	"COL3A1_000114"	"g.189872860G>C"	""	"{PMID:Jansen et al., 2000:10819545}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703195"	"0"	"99"	"2"	"189872861"	"189872861"	"subst"	"0"	"00085"	"COL3A1_000115"	"g.189872861G>A"	""	"{PMID:Johnson et al., 1992:1357232}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703196"	"0"	"99"	"2"	"189872861"	"189872861"	"subst"	"0"	"00085"	"COL3A1_000115"	"g.189872861G>A"	""	"{PMID:Giunta and Steinmann, 2000:10923041}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703197"	"0"	"99"	"2"	"189872861"	"189872861"	"subst"	"0"	"03704"	"COL3A1_000115"	"g.189872861G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703198"	"0"	"99"	"2"	"189872861"	"189872861"	"subst"	"0"	"03704"	"COL3A1_000571"	"g.189872861G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703199"	"0"	"99"	"2"	"189872869"	"189872869"	"subst"	"0"	"03711"	"COL3A1_000638"	"g.189872869G>A"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703200"	"0"	"99"	"2"	"189873650"	"189873650"	"subst"	"0"	"00085"	"COL3A1_000116"	"g.189873650G>A"	""	"Leroy et al., 1993 Am J Hum Genet 53(Suppl): abstract 1735"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703201"	"0"	"99"	"2"	"189873651"	"189873651"	"subst"	"0"	"00085"	"COL3A1_000248"	"g.189873651G>A"	""	"{PMID:Morais et al., 2011:21549076}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703202"	"0"	"99"	"2"	"189873651"	"189873651"	"subst"	"0"	"00085"	"COL3A1_000117"	"g.189873651G>T"	""	"{PMID:Nuytinck et al., 1994:8019562}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703203"	"0"	"99"	"2"	"189873651"	"189873652"	"delins"	"0"	"03704"	"COL3A1_000572"	"g.189873651_189873652delinsAA"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703204"	"0"	"99"	"2"	"189873657"	"189873677"	"del"	"0"	"00736"	"COL3A1_000614"	"g.189873657_189873677del"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703205"	"0"	"99"	"2"	"189873659"	"189873659"	"subst"	"0"	"03704"	"COL3A1_000118"	"g.189873659G>C"	""	"{PMID:Smith et al., 1997:9036918} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703206"	"0"	"79"	"2"	"189873660"	"189873660"	"subst"	"0"	"00475"	"COL3A1_000212"	"g.189873660G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703207"	"0"	"99"	"2"	"189873660"	"189873660"	"subst"	"0"	"03704"	"COL3A1_000573"	"g.189873660G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703208"	"10"	"99"	"2"	"189873668"	"189873668"	"subst"	"0"	"03704"	"COL3A1_000574"	"g.189873668G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703209"	"0"	"79"	"2"	"189873668"	"189873668"	"subst"	"0"	"00085"	"COL3A1_000574"	"g.189873668G>A"	""	"{PMID:Busch et al., 2016:27488172}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703210"	"0"	"99"	"2"	"189873668"	"189873668"	"subst"	"0"	"00736"	"COL3A1_000615"	"g.189873668G>C"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703211"	"0"	"99"	"2"	"189873669"	"189873669"	"subst"	"0"	"03704"	"COL3A1_000119"	"g.189873669G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703212"	"0"	"99"	"2"	"189873669"	"189873669"	"subst"	"0"	"03707"	"COL3A1_000119"	"g.189873669G>A"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703213"	"0"	"99"	"2"	"189873669"	"189873669"	"subst"	"0"	"03704"	"COL3A1_000119"	"g.189873669G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703214"	"0"	"99"	"2"	"189873669"	"189873669"	"subst"	"0"	"03704"	"COL3A1_000119"	"g.189873669G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703215"	"0"	"99"	"2"	"189873669"	"189873669"	"subst"	"0"	"03704"	"COL3A1_000575"	"g.189873669G>T"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703216"	"0"	"99"	"2"	"189873678"	"189873678"	"subst"	"0"	"00085"	"COL3A1_000120"	"g.189873678G>A"	""	"{PMID:Kontusaari et al., 1992:1496983}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703217"	"0"	"99"	"2"	"189873678"	"189873678"	"subst"	"0"	"00085"	"COL3A1_000120"	"g.189873678G>A"	""	"{PMID:Pope et al., 1996:8881656}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703218"	"0"	"59"	"2"	"189873678"	"189873678"	"subst"	"0"	"00475"	"COL3A1_000120"	"g.189873678G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703219"	"0"	"99"	"2"	"189873678"	"189873678"	"subst"	"0"	"03704"	"COL3A1_000120"	"g.189873678G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703220"	"0"	"99"	"2"	"189873678"	"189873678"	"subst"	"0"	"03704"	"COL3A1_000120"	"g.189873678G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703221"	"0"	"99"	"2"	"189873678"	"189873678"	"subst"	"0"	"03704"	"COL3A1_000121"	"g.189873678G>T"	""	"{PMID:Smith et al., 1997:9036918} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703222"	"0"	"99"	"2"	"189873686"	"189873686"	"subst"	"0"	"03704"	"COL3A1_000122"	"g.189873686G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703223"	"0"	"99"	"2"	"189873686"	"189873686"	"subst"	"0"	"00085"	"COL3A1_000122"	"g.189873686G>A"	""	"{PMID:Pope et al., 1996:8881656}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703224"	"0"	"99"	"2"	"189873686"	"189873686"	"subst"	"0"	"00085"	"COL3A1_000122"	"g.189873686G>A"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703225"	"0"	"99"	"2"	"189873687"	"189873687"	"subst"	"0"	"00085"	"COL3A1_000123"	"g.189873687G>A"	""	"{PMID:Narcisi et al., 1993:8098182}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703226"	"0"	"99"	"2"	"189873687"	"189873687"	"subst"	"0"	"03704"	"COL3A1_000123"	"g.189873687G>A"	""	"{PMID:Smith et al., 1997:9036918} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703227"	"0"	"99"	"2"	"189873687"	"189873687"	"subst"	"0"	"03704"	"COL3A1_000123"	"g.189873687G>A"	""	"{PMID:Pepin et al., 2000:10706896} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703228"	"0"	"99"	"2"	"189873687"	"189873687"	"subst"	"0"	"03707"	"COL3A1_000123"	"g.189873687G>A"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703229"	"0"	"99"	"2"	"189873687"	"189873687"	"subst"	"0"	"03704"	"COL3A1_000123"	"g.189873687G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703230"	"0"	"99"	"2"	"189873687"	"189873687"	"subst"	"0"	"03704"	"COL3A1_000123"	"g.189873687G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703231"	"0"	"99"	"2"	"189873687"	"189873687"	"subst"	"0"	"03704"	"COL3A1_000123"	"g.189873687G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703232"	"0"	"99"	"2"	"189873687"	"189873687"	"subst"	"0"	"00085"	"COL3A1_000274"	"g.189873687G>T"	""	"{PMID:Drera et al., 2011:22019127}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703233"	"2"	"55"	"2"	"189873693"	"189873693"	"subst"	"0"	"03704"	"COL3A1_000243"	"g.189873693C>T"	""	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000703234"	"21"	"99"	"2"	"189873696"	"189873696"	"subst"	"0"	"03704"	"COL3A1_000576"	"g.189873696G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703235"	"0"	"99"	"2"	"189873699"	"189873700"	"ins"	"0"	"03704"	"COL3A1_000244"	"g.189873699_189873700insAGGG"	""	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703236"	"0"	"55"	"2"	"189873717"	"189873717"	"subst"	"2.03136E-5"	"00085"	"COL3A1_000730"	"g.189873717G>A"	""	"{PMID:Renner et al., 2019:30675029}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000703237"	"0"	"77"	"2"	"189873731"	"189873731"	"subst"	"2.84407E-5"	"00736"	"COL3A1_000619"	"g.189873731G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703238"	"0"	"11"	"2"	"189873737"	"189873737"	"subst"	"0.00430632"	"00085"	"COL3A1_000181"	"g.189873737A>G"	""	"{PMID:Chan et al., 2008:18272325}"	""	""	""	"Unknown"	""	"rs2271683"	"0"	""	""	""	""	"likely benign"	""
"0000703239"	"0"	"11"	"2"	"189873778"	"189873778"	"subst"	"0.00102785"	"00085"	"COL3A1_000189"	"g.189873778G>T"	""	"{PMID:Chan et al., 2008:18272325}"	""	""	""	"Unknown"	""	"rs35759441"	"0"	""	""	""	""	"likely benign"	""
"0000703240"	"0"	"33"	"2"	"189873814"	"189873814"	"subst"	"4.06312E-6"	"00085"	"COL3A1_000643"	"g.189873814C>G"	""	"{PMID:Haller et al., 2015:26333736}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"benign"	""
"0000703241"	"0"	"99"	"2"	"189873834"	"189873834"	"subst"	"0"	"00736"	"COL3A1_000613"	"g.189873834C>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703242"	"0"	"99"	"2"	"189873834"	"189873834"	"subst"	"0"	"00736"	"COL3A1_000613"	"g.189873834C>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703243"	"0"	"77"	"2"	"189873896"	"189873896"	"subst"	"0"	"00736"	"COL3A1_000322"	"g.189873896C>T"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703244"	"0"	"79"	"2"	"189873899"	"189873899"	"subst"	"8.95313E-5"	"00736"	"COL3A1_000618"	"g.189873899G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703245"	"20"	"99"	"2"	"189873899"	"189873899"	"subst"	"8.95313E-5"	"00085"	"COL3A1_000618"	"g.189873899G>A"	""	"{PMID:Zhang et al., 2017:28035354}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703246"	"0"	"37"	"2"	"189873900"	"189873900"	"subst"	"4.88257E-5"	"00736"	"COL3A1_000616"	"g.189873900C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703247"	"0"	"11"	"2"	"189873900"	"189873900"	"subst"	"4.88257E-5"	"00085"	"COL3A1_000616"	"g.189873900C>T"	""	"{PMID:Sakai et al., 2011:22001912}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000703248"	"0"	"11"	"2"	"189873900"	"189873900"	"subst"	"4.88257E-5"	"00085"	"COL3A1_000616"	"g.189873900C>T"	""	"{PMID:Yang et al., 2016:27611364}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000703249"	"0"	"51"	"2"	"189873901"	"189873901"	"subst"	"0.000557423"	"00085"	"COL3A1_000207"	"g.189873901T>C"	""	""	""	""	""	"Unknown"	""	"rs34781844"	"0"	""	""	""	""	"VUS"	""
"0000703250"	"0"	"55"	"2"	"189873917"	"189873917"	"subst"	"4.07445E-6"	"00085"	"COL3A1_000682"	"g.189873917C>A"	""	"{PMID:Hicks et al., 2018:29510914}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000703251"	"0"	"77"	"2"	"189873932"	"189873932"	"subst"	"4.0807E-6"	"00736"	"COL3A1_000617"	"g.189873932C>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703252"	"0"	"33"	"2"	"189873942"	"189873942"	"subst"	"0.000122611"	"00736"	"COL3A1_000317"	"g.189873942A>G"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"benign"	""
"0000703253"	"0"	"37"	"2"	"189873942"	"189873942"	"subst"	"0.000122611"	"00736"	"COL3A1_000317"	"g.189873942A>G"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703254"	"0"	"11"	"2"	"189873942"	"189873942"	"subst"	"0.000122611"	"00085"	"COL3A1_000317"	"g.189873942A>G"	""	"{PMID:Adham et al., 2019:31531849}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000703255"	"0"	"11"	"2"	"189873942"	"189873942"	"subst"	"0.000122611"	"00085"	"COL3A1_000317"	"g.189873942A>G"	""	"{PMID:Schubert 2016:26854089}"	""	""	"variant described as of unknown significance, predicted by PROVEAN/SIFT/Polyphen-2/SuSPECT as nondamaging"	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000703256"	"0"	"99"	"2"	"189873948"	"189873948"	"subst"	"0"	"00736"	"COL3A1_000352"	"g.189873948G>C"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703257"	"0"	"99"	"2"	"189874927"	"189874927"	"subst"	"0"	"03704"	"COL3A1_000247"	"g.189874927C>T"	""	"{PMID:Leistritz et al., 2011:21637106} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703258"	"21"	"99"	"2"	"189874931"	"189874931"	"subst"	"0"	"03704"	"COL3A1_000585"	"g.189874931G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703259"	"0"	"99"	"2"	"189874943"	"189874943"	"subst"	"0"	"03704"	"COL3A1_000362"	"g.189874943A>T"	""	"{PMID:Kerwin et al., 2008:18043893} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703260"	"0"	"77"	"2"	"189874949"	"189874949"	"subst"	"0"	"00085"	"COL3A1_000745"	"g.189874949T>C"	""	"{PMID:Poninska et al., 2016:27146836}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703261"	"0"	"97"	"2"	"189875018"	"189875018"	"subst"	"0.000804192"	"00085"	"COL3A1_000231"	"g.189875018A>G"	""	"{PMID:Pickup and Pollanen, 2010:21086191}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703262"	"0"	"37"	"2"	"189875018"	"189875018"	"subst"	"0.000804192"	"00736"	"COL3A1_000231"	"g.189875018A>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703263"	"0"	"37"	"2"	"189875018"	"189875018"	"subst"	"0.000804192"	"00736"	"COL3A1_000231"	"g.189875018A>G"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703264"	"0"	"77"	"2"	"189875018"	"189875018"	"subst"	"0.000804192"	"00085"	"COL3A1_000231"	"g.189875018A>G"	""	"{PMID:Stembridge et al., 2015:25846194}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703265"	"0"	"35"	"2"	"189875018"	"189875018"	"subst"	"0.000804192"	"03711"	"COL3A1_000231"	"g.189875018A>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000703266"	"0"	"99"	"2"	"189875046"	"189875046"	"del"	"0"	"03704"	"COL3A1_000577"	"g.189875046del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703267"	"10"	"99"	"2"	"189875069"	"189875069"	"del"	"0"	"03704"	"COL3A1_000578"	"g.189875069del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703268"	"0"	"99"	"2"	"189875092"	"189875092"	"subst"	"0"	"00736"	"COL3A1_000350"	"g.189875092G>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703269"	"0"	"55"	"2"	"189875374"	"189875374"	"subst"	"0"	"01233"	"COL3A1_000659"	"g.189875374T>A"	""	"{PMID:Overwater et al., 2018:29907982}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000703270"	"0"	"11"	"2"	"189875421"	"189875421"	"subst"	"0"	"00085"	"COL3A1_000182"	"g.189875421G>T"	""	"{PMID:Chan et al., 2008:18272325}"	""	""	""	"Unknown"	""	"rs1516446"	"0"	""	""	""	""	"likely benign"	""
"0000703271"	"21"	"99"	"2"	"189875458"	"189875458"	"subst"	"0"	"00085"	"COL3A1_000647"	"g.189875458C>T"	""	"{PMID:Lee et al., 2014:25326637}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703272"	"0"	"77"	"2"	"189875467"	"189875467"	"subst"	"0"	"00085"	"COL3A1_000724"	"g.189875467A>C"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703273"	"21"	"77"	"2"	"189875478"	"189875478"	"subst"	"0"	"03708"	"COL3A1_000357"	"g.189875478C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703274"	"0"	"99"	"2"	"189875496"	"189875496"	"subst"	"0"	"00736"	"COL3A1_000336"	"g.189875496C>A"	""	"{PMID:Frank et al., 2015:25758994}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703275"	"0"	"99"	"2"	"189875616"	"189875616"	"subst"	"0"	"03704"	"COL3A1_000579"	"g.189875616G>A"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703276"	"0"	"33"	"2"	"189876375"	"189876375"	"subst"	"0"	"00085"	"COL3A1_000644"	"g.189876375A>G"	""	"{PMID:Haller et al., 2015:26333736}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"benign"	""
"0000703277"	"0"	"77"	"2"	"189876384"	"189876410"	"delins"	"0"	"00085"	"COL3A1_000725"	"g.189876384_189876410delinsGAACACGCA"	""	"{PMID:Legrand et al., 2019:30474650}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703278"	"10"	"99"	"2"	"189876385"	"189876386"	"del"	"0"	"03704"	"COL3A1_000580"	"g.189876385_189876386del"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703279"	"0"	"99"	"2"	"189876393"	"189876393"	"subst"	"0"	"03704"	"COL3A1_000124"	"g.189876393C>T"	""	"{PMID:Schwarze et al., 2001:11577371} {PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703280"	"0"	"99"	"2"	"189876394"	"189876394"	"subst"	"2.03176E-5"	"00085"	"COL3A1_000626"	"g.189876394G>T"	""	"{PMID:Stembridge et al., 2015:25846194}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703281"	"0"	"53"	"2"	"189876403"	"189876403"	"subst"	"0"	"00085"	"COL3A1_000209"	"g.189876403A>G"	""	""	""	""	""	"Unknown"	""	"rs3197045"	"0"	""	""	""	""	"VUS"	""
"0000703282"	"0"	"59"	"2"	"189876417"	"189876417"	"subst"	"0"	"03707"	"COL3A1_000309"	"g.189876417C>T"	""	"{PMID:Morissette et al., 2014:24399159}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703283"	"11"	"99"	"2"	"189876418"	"189876418"	"subst"	"0"	"00085"	"COL3A1_000625"	"g.189876418C>T"	""	"{PMID:Stembridge et al., 2015:25846194}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703284"	"0"	"99"	"2"	"189876418"	"189876418"	"subst"	"0"	"03711"	"COL3A1_000625"	"g.189876418C>T"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703285"	"0"	"99"	"2"	"189876498"	"189876498"	"subst"	"0"	"03704"	"COL3A1_000581"	"g.189876498T>C"	""	"{PMID:Pepin et al., 2014:24922459}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703286"	"0"	"97"	"2"	"189876499"	"189876499"	"subst"	"0"	"00085"	"COL3A1_000627"	"g.189876499A>T"	""	"{PMID:Stembridge et al., 2015:25846194}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000718341"	"0"	"30"	"2"	"189852289"	"189852289"	"subst"	"0"	"02329"	"COL3A1_000878"	"g.189852289T>C"	""	""	""	"COL3A1(NM_000090.4):c.528+424T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000718342"	"0"	"50"	"2"	"189853358"	"189853358"	"subst"	"0"	"01943"	"COL3A1_000879"	"g.189853358G>A"	""	""	""	"COL3A1(NM_000090.3):c.625G>A (p.A209T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000718343"	"0"	"90"	"2"	"189860905"	"189860905"	"subst"	"0"	"02329"	"COL3A1_000355"	"g.189860905G>C"	""	""	""	"COL3A1(NM_000090.4):c.1662+1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000718344"	"0"	"50"	"2"	"189868865"	"189868865"	"subst"	"4.06871E-6"	"02325"	"COL3A1_000880"	"g.189868865C>A"	""	""	""	"COL3A1(NM_000090.4):c.2819C>A (p.P940Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000791019"	"1"	"90"	"2"	"189861205"	"189861205"	"subst"	"0"	"01164"	"COL3A1_000044"	"g.189861205G>A"	""	"PMID: 8990011, 30793832, 30919682, 29543232, 10706896"	""	""	"ACMG: PS4, PM1_STR, PM2_SUP, PP3"	"Germline"	"?"	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000791020"	"2"	"70"	"2"	"189866260"	"189866260"	"subst"	"0"	"01164"	"COL3A1_000881"	"g.189866260A>G"	""	"VCV000199729.2"	""	""	"ACMG: PVS1, PM2_SUP"	"Germline"	"?"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000791120"	"0"	"97"	"2"	"189872183"	"189872183"	"subst"	"0"	"00085"	"COL3A1_000548"	"g.189872183T>G"	""	""	""	""	"The substitution probably creates a strong splice acceptor site."	"Unknown"	"?"	"rs587779667"	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000800226"	"0"	"50"	"2"	"189851845"	"189851845"	"subst"	"0"	"02326"	"COL3A1_000882"	"g.189851845G>C"	""	""	""	"COL3A1(NM_000090.3):c.508G>C (p.A170P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000800227"	"0"	"70"	"2"	"189854139"	"189854139"	"dup"	"0"	"01943"	"COL3A1_000883"	"g.189854139dup"	""	""	""	"COL3A1(NM_000090.3):c.654dupT (p.G219Wfs*17)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000800228"	"0"	"90"	"2"	"189858169"	"189858169"	"subst"	"0"	"02329"	"COL3A1_000692"	"g.189858169G>A"	""	""	""	"COL3A1(NM_000090.4):c.1133G>A (p.G378D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000800229"	"0"	"30"	"2"	"189862979"	"189862979"	"subst"	"0"	"02326"	"COL3A1_000884"	"g.189862979T>C"	""	""	""	"COL3A1(NM_000090.3):c.1924-13T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000800230"	"0"	"90"	"2"	"189868861"	"189868861"	"subst"	"0"	"02329"	"COL3A1_000512"	"g.189868861G>A"	""	""	""	"COL3A1(NM_000090.4):c.2815G>A (p.G939S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000800231"	"0"	"90"	"2"	"189873686"	"189873686"	"subst"	"0"	"01943"	"COL3A1_000122"	"g.189873686G>A"	""	""	""	"COL3A1(NM_000090.3):c.3562G>A (p.G1188R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000800232"	"0"	"30"	"2"	"189873700"	"189873700"	"subst"	"4.06359E-6"	"02326"	"COL3A1_000783"	"g.189873700C>T"	""	""	""	"COL3A1(NM_000090.3):c.3576C>T (p.A1192=), COL3A1(NM_000090.4):c.3576C>T (p.A1192=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000818583"	"0"	"99"	"2"	"189856934"	"189856934"	"subst"	"0"	"00085"	"COL3A1_000414"	"g.189856934C>T"	""	"{PMID:Lindsay et al., 2021:34587390} {DOI:Lindsay et al., 2021:10.1056/NEJMcpc2107347}"	""	"a mutation at nucleotide position 976 caused a substitution of cytosine for thymine"	""	"Germline"	""	""	"0"	""	""	"g.188992208C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000831666"	"0"	"70"	"2"	"189871664"	"189871664"	"subst"	"0"	"01164"	"COL3A1_000885"	"g.189871664G>A"	""	"PMID: 24922459"	""	""	"ACMG: PM1, PM5, PM2_SUP, PP3"	"Germline"	""	""	""	""	""	""	""	"likely pathogenic (!)"	"ACMG"
"0000831734"	"1"	"50"	"2"	"189850427"	"189850427"	"subst"	"0"	"00006"	"COL3A1_000653"	"g.189850427G>C"	"1/128 cases FA"	"{PMID:Overwater 2018:29907982}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.188985701G>C"	""	"VUS"	""
"0000839560"	"0"	"99"	"2"	"189856450"	"189856450"	"subst"	"0"	"04256"	"COL3A1_000886"	"g.189856450T>G"	""	"{PMID:Shido et al., 2021:34453356}"	""	"IVS14+2T>G"	""	"De novo"	""	""	"0"	""	""	"g.188991724T>G"	""	"pathogenic (dominant)"	""
"0000839936"	"0"	"30"	"2"	"189849525"	"189849525"	"subst"	"4.0705E-6"	"00006"	"COL3A1_000887"	"g.189849525C>A"	"0.0008"	"{PMID:Shido 2021:34453356}"	""	""	"analysis 8380 WGS samples Japan"	"CLASSIFICATION record"	""	"rs201380807"	"0"	""	""	"g.188984799C>A"	""	"likely benign"	""
"0000839937"	"0"	"10"	"2"	"189859073"	"189859073"	"subst"	"0.0555176"	"00006"	"COL3A1_000836"	"g.189859073T>A"	"0.0682"	"{PMID:Shido 2021:34453356}"	""	""	"analysis 8380 WGS samples Japan"	"CLASSIFICATION record"	""	"rs2271679"	"0"	""	""	"g.188994347T>A"	""	"benign"	""
"0000839938"	"0"	"30"	"2"	"189861949"	"189861949"	"subst"	"0.000588986"	"00006"	"COL3A1_000277"	"g.189861949G>A"	"0.0042"	"{PMID:Shido 2021:34453356}"	""	""	"analysis 8380 WGS samples Japan"	"CLASSIFICATION record"	""	"rs146652498"	"0"	""	""	"g.188997223G>A"	""	"likely benign"	""
"0000839939"	"0"	"10"	"2"	"189861962"	"189861962"	"subst"	"0.0305414"	"00006"	"COL3A1_000845"	"g.189861962A>G"	"0.0640"	"{PMID:Shido 2021:34453356}"	""	""	"analysis 8380 WGS samples Japan"	"CLASSIFICATION record"	""	"rs28413125"	"0"	""	""	"g.188997236A>G"	""	"benign"	""
"0000839940"	"0"	"30"	"2"	"189863054"	"189863054"	"subst"	"0.000466025"	"00006"	"COL3A1_000888"	"g.189863054C>T"	"0.005"	"{PMID:Shido 2021:34453356}"	""	""	"analysis 8380 WGS samples Japan"	"CLASSIFICATION record"	""	"rs184223621"	"0"	""	""	"g.188998328C>T"	""	"likely benign"	""
"0000839941"	"0"	"10"	"2"	"189863389"	"189863389"	"subst"	"0.26362"	"00006"	"COL3A1_000850"	"g.189863389C>T"	"0.2813"	"{PMID:Shido 2021:34453356}"	""	""	"analysis 8380 WGS samples Japan"	"CLASSIFICATION record"	""	"rs13306272"	"0"	""	""	"g.188998663C>T"	""	"benign"	""
"0000839942"	"0"	"30"	"2"	"189864023"	"189864023"	"subst"	"0.00552585"	"00006"	"COL3A1_000187"	"g.189864023G>A"	"0.0004"	"{PMID:Shido 2021:34453356}"	""	""	"analysis 8380 WGS samples Japan"	"CLASSIFICATION record"	""	"rs41263773"	"0"	""	""	"g.188999297G>A"	""	"likely benign"	""
"0000839943"	"0"	"10"	"2"	"189864080"	"189864080"	"subst"	"0.249659"	"00006"	"COL3A1_000137"	"g.189864080G>A"	"0.281"	"{PMID:Shido 2021:34453356}"	""	""	"analysis 8380 WGS samples Japan"	"CLASSIFICATION record"	""	"rs1800255"	"0"	""	""	"g.188999354G>A"	""	"benign"	""
"0000839944"	"0"	"10"	"2"	"189864582"	"189864582"	"subst"	"0.233858"	"00006"	"COL3A1_000138"	"g.189864582T>C"	"0.101"	"{PMID:Shido 2021:34453356}"	""	""	"analysis 8380 WGS samples Japan"	"CLASSIFICATION record"	""	"rs1801184"	"0"	""	""	"g.188999856T>C"	""	"benign"	""
"0000839945"	"0"	"30"	"2"	"189870953"	"189870953"	"subst"	"4.0622E-6"	"00006"	"COL3A1_000889"	"g.189870953C>G"	"0.00470"	"{PMID:Shido 2021:34453356}"	""	""	"analysis 8380 WGS samples Japan"	"CLASSIFICATION record"	""	"rs139619440"	"0"	""	""	"g.189006227C>G"	""	"likely benign"	""
"0000839946"	"0"	"30"	"2"	"189871110"	"189871110"	"subst"	"0.00056875"	"00006"	"COL3A1_000747"	"g.189871110G>A"	"0.0035"	"{PMID:Shido 2021:34453356}"	""	""	"analysis 8380 WGS samples Japan"	"CLASSIFICATION record"	""	"rs149722210"	"0"	""	""	"g.189006384G>A"	""	"likely benign"	""
"0000839947"	"0"	"10"	"2"	"189873737"	"189873737"	"subst"	"0.00430632"	"00006"	"COL3A1_000181"	"g.189873737A>G"	"0.0966"	"{PMID:Shido 2021:34453356}"	""	""	"analysis 8380 WGS samples Japan"	"CLASSIFICATION record"	""	"rs2271683"	"0"	""	""	"g.189009011A>G"	""	"benign"	""
"0000839948"	"0"	"10"	"2"	"189875421"	"189875421"	"="	"0"	"00006"	"COL3A1_000890"	"g.189875421T="	"1"	"{PMID:Shido 2021:34453356}"	""	""	"analysis 8380 WGS samples Japan"	"CLASSIFICATION record"	""	"rs1516446"	"0"	""	""	"g.189010695T="	""	"benign"	""
"0000842216"	"0"	"99"	"2"	"189868496"	"189868496"	"subst"	"0"	"04256"	"COL3A1_000891"	"g.189868496G>T"	""	"{PMID:Aydıner and Hançer, 2020:32655343}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000844403"	"20"	"99"	"2"	"189856450"	"189856450"	"subst"	"0"	"04256"	"COL3A1_000892"	"g.189856450T>G"	""	"{PMID:Nanduri et al., 2020:33586854}"	""	"IVS14+2T>G"	""	"Germline"	""	""	"0"	""	""	"g.188991724T>G"	""	"pathogenic (dominant)"	""
"0000849617"	"0"	"30"	"2"	"189849529"	"189849529"	"subst"	"9.76713E-5"	"01943"	"COL3A1_000894"	"g.189849529T>C"	""	""	""	"COL3A1(NM_000090.3):c.123T>C (p.D41=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000849618"	"0"	"30"	"2"	"189849988"	"189849988"	"subst"	"3.2611E-5"	"02329"	"COL3A1_000895"	"g.189849988T>C"	""	""	""	"COL3A1(NM_000090.4):c.333+15T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000849619"	"0"	"30"	"2"	"189851842"	"189851842"	"subst"	"0.000793334"	"01943"	"COL3A1_000004"	"g.189851842C>T"	""	""	""	"COL3A1(NM_000090.3):c.505C>T (p.L169F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000849620"	"0"	"30"	"2"	"189860439"	"189860439"	"subst"	"0"	"01943"	"COL3A1_000896"	"g.189860439G>C"	""	""	""	"COL3A1(NM_000090.3):c.1531G>C (p.A511P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000849621"	"0"	"30"	"2"	"189860859"	"189860859"	"subst"	"4.46991E-5"	"01943"	"COL3A1_000897"	"g.189860859C>T"	""	""	""	"COL3A1(NM_000090.3):c.1617C>T (p.P539=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000849622"	"0"	"90"	"2"	"189864075"	"189864075"	"subst"	"0"	"02325"	"COL3A1_000477"	"g.189864075G>A"	""	""	""	"COL3A1(NM_000090.4):c.2087G>A (p.G696D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000849623"	"0"	"30"	"2"	"189864558"	"189864558"	"subst"	"0"	"02326"	"COL3A1_000898"	"g.189864558T>C"	""	""	""	"COL3A1(NM_000090.3):c.2230-10T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000849624"	"0"	"30"	"2"	"189867096"	"189867096"	"subst"	"4.06699E-6"	"02329"	"COL3A1_000899"	"g.189867096A>G"	""	""	""	"COL3A1(NM_000090.4):c.2445+19A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000858217"	"0"	"30"	"2"	"189873883"	"189873883"	"subst"	"0"	"02329"	"COL3A1_000900"	"g.189873883T>G"	""	""	""	"COL3A1(NM_000090.4):c.3759T>G (p.G1253=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000868314"	"0"	"79"	"2"	"189873678"	"189873678"	"subst"	"0"	"04305"	"COL3A1_000121"	"g.189873678G>T"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.189008952G>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000869729"	"0"	"70"	"2"	"189864098"	"189864098"	"subst"	"0"	"04305"	"COL3A1_000901"	"g.189864098G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.188999372G>A"	""	"pathogenic"	""
"0000869805"	"0"	"70"	"2"	"189868837"	"189868837"	"subst"	"0"	"04305"	"COL3A1_000902"	"g.189868837G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.189004111G>A"	""	"pathogenic"	"ACMG"
"0000870084"	"0"	"70"	"2"	"189859489"	"189859489"	"subst"	"0"	"04305"	"COL3A1_000903"	"g.189859489G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188994763G>A"	""	"likely pathogenic"	"ACMG"
"0000870085"	"0"	"79"	"2"	"189868837"	"189868837"	"subst"	"0"	"04305"	"COL3A1_000902"	"g.189868837G>A"	""	"{PMID:Colman et al., 2022:35587586}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.189004111G>A"	""	"likely pathogenic"	"ACMG"
"0000870086"	"0"	"79"	"2"	"189859315"	"189859315"	"subst"	"0"	"04305"	"COL3A1_000904"	"g.189859315G>A"	""	"{PMID:Colman et al., 2022:35587586}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.188994589G>A"	""	"likely pathogenic"	"ACMG"
"0000870087"	"0"	"79"	"2"	"189868837"	"189868837"	"subst"	"0"	"04305"	"COL3A1_000902"	"g.189868837G>A"	""	"{PMID:Colman et al., 2022:35587586}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.189004111G>A"	""	"likely pathogenic"	"ACMG"
"0000870088"	"0"	"70"	"2"	"189859453"	"189859453"	"subst"	"0"	"04305"	"COL3A1_000905"	"g.189859453G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.188994727G>A"	""	"likely pathogenic"	"ACMG"
"0000870708"	"0"	"77"	"2"	"189864273"	"189864274"	"delins"	"0"	"04305"	"COL3A1_000906"	"g.189864273_189864274delinsAT"	""	"{PMID:Liang et al., 2022:34845833}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.188999547_188999548delinsAT"	""	"likely pathogenic"	"ACMG"
"0000870709"	"0"	"70"	"2"	"189864295"	"189864295"	"subst"	"0"	"04305"	"COL3A1_000300"	"g.189864295G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.188999569G>A"	""	"pathogenic"	"ACMG"
"0000870710"	"0"	"99"	"2"	"189868496"	"189868496"	"subst"	"0"	"04305"	"COL3A1_000891"	"g.189868496G>T"	""	"{PMID:Aydiner 2020:32655343}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.189003770G>T"	""	"pathogenic"	"ACMG"
"0000871653"	"0"	"79"	"2"	"189868799"	"189868799"	"subst"	"0"	"04305"	"COL3A1_000076"	"g.189868799G>A"	""	"{PMID:Guo et al., 2022:35754816}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.189004073G>A"	""	"likely pathogenic"	"ACMG"
"0000871654"	"0"	"79"	"2"	"189868799"	"189868799"	"subst"	"0"	"04305"	"COL3A1_000076"	"g.189868799G>A"	""	"{PMID:Guo et al., 2022:35754816}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.189004073G>A"	""	"likely pathogenic"	"ACMG"
"0000871655"	"0"	"79"	"2"	"189868799"	"189868799"	"subst"	"0"	"04305"	"COL3A1_000076"	"g.189868799G>A"	""	"{PMID:Guo et al., 2022:35754816}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.189004073G>A"	""	"likely pathogenic"	"ACMG"
"0000871656"	"0"	"79"	"2"	"189868799"	"189868799"	"subst"	"0"	"04305"	"COL3A1_000076"	"g.189868799G>A"	""	"{PMID:Guo et al., 2022:35754816}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.189004073G>A"	""	"likely pathogenic"	"ACMG"
"0000871657"	"0"	"79"	"2"	"189868799"	"189868799"	"subst"	"0"	"04305"	"COL3A1_000076"	"g.189868799G>A"	""	"{PMID:Guo et al., 2022:35754816}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.189004073G>A"	""	"likely pathogenic"	"ACMG"
"0000872194"	"0"	"70"	"2"	"379273713"	"379927656"	"del"	"0"	"04305"	"COL3A1_000907"	"g.379273713_379927656del"	""	"{PMID:Erhart et al., 2022:35743335}"	""	""	"{PMID:Erhart et al., 2022:35743335}"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000873891"	"0"	"99"	"2"	"189858088"	"189858088"	"subst"	"0"	"04305"	"COL3A1_000419"	"g.189858088G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188993362G>T"	""	"pathogenic"	"ACMG"
"0000873892"	"0"	"97"	"2"	"189872821"	"189872821"	"subst"	"0"	"04305"	"COL3A1_000893"	"g.189872821A>G"	""	""	""	""	"The authors claim that the variant creates a cryptic donor splice site. It is more probable that the variant interferes with ESE elements within the exon and disrupts splicing because of that."	"De novo"	""	""	"0"	""	""	"g.190737547:A:G"	""	"likely pathogenic"	"ACMG"
"0000876614"	"0"	"90"	"2"	"189863029"	"189863029"	"subst"	"0"	"04305"	"COL3A1_000464"	"g.189863029G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	"g.188998303G>A"	""	"pathogenic"	"ACMG"
"0000876615"	"0"	"70"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"04305"	"COL3A1_000147"	"g.189860905G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188996179G>A"	""	"likely pathogenic"	"ACMG"
"0000878063"	"20"	"50"	"2"	"189873663"	"189873663"	"subst"	"0"	"02544"	"COL3A1_000914"	"g.189873663A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.189008937A>G"	""	"VUS"	""
"0000878081"	"0"	"70"	"2"	"189868837"	"189868837"	"subst"	"0"	"02544"	"COL3A1_000902"	"g.189868837G>A"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.189004111G>A"	""	"likely pathogenic"	""
"0000878100"	"0"	"50"	"2"	"189870136"	"189870136"	"subst"	"0"	"02544"	"COL3A1_000912"	"g.189870136C>G"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.189005410C>G"	""	"VUS"	""
"0000878147"	"0"	"50"	"2"	"189857661"	"189857661"	"subst"	"0"	"02544"	"COL3A1_000909"	"g.189857661G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188992935G>A"	""	"VUS"	""
"0000878148"	"0"	"50"	"2"	"189870118"	"189870118"	"subst"	"0"	"02544"	"COL3A1_000911"	"g.189870118C>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.189005392C>A"	""	"VUS"	""
"0000878164"	"0"	"50"	"2"	"189867082"	"189867082"	"subst"	"0"	"02544"	"COL3A1_000910"	"g.189867082G>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.189002356G>C"	""	"VUS"	""
"0000878166"	"0"	"70"	"2"	"189868772"	"189868772"	"subst"	"0"	"02544"	"COL3A1_000074"	"g.189868772G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.189004046G>A"	""	"likely pathogenic"	""
"0000878191"	"0"	"70"	"2"	"189873696"	"189873696"	"subst"	"0"	"02544"	"COL3A1_000576"	"g.189873696G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.189008970G>A"	""	"likely pathogenic"	""
"0000878196"	"0"	"70"	"2"	"189852835"	"189852835"	"subst"	"0"	"02544"	"COL3A1_000908"	"g.189852835G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188988109G>A"	""	"likely pathogenic"	""
"0000878201"	"0"	"50"	"2"	"189872635"	"189872635"	"subst"	"0"	"02544"	"COL3A1_000913"	"g.189872635A>G"	""	"0"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.189007909A>G"	""	"VUS"	""
"0000880866"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"04305"	"COL3A1_000006"	"g.189852825G>A"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.188988099G>A"	""	"pathogenic"	"ACMG"
"0000880867"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"04305"	"COL3A1_000006"	"g.189852825G>A"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.188988099G>A"	""	"pathogenic"	"ACMG"
"0000880868"	"0"	"99"	"2"	"189852834"	"189852834"	"subst"	"0"	"04305"	"COL3A1_000330"	"g.189852834G>A"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.188988108G>A"	""	"pathogenic"	"ACMG"
"0000880869"	"0"	"79"	"2"	"189852843"	"189852843"	"subst"	"0"	"04305"	"COL3A1_000375"	"g.189852843G>C"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.188988117G>C"	""	"pathogenic"	"ACMG"
"0000884634"	"0"	"30"	"2"	"189850517"	"189850517"	"subst"	"3.68735E-5"	"02326"	"COL3A1_000915"	"g.189850517C>T"	""	""	""	"COL3A1(NM_000090.3):c.447+13C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000884635"	"0"	"50"	"2"	"189859318"	"189859318"	"subst"	"0"	"02326"	"COL3A1_000916"	"g.189859318C>T"	""	""	""	"COL3A1(NM_000090.3):c.1345C>T (p.R449C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000884636"	"0"	"90"	"2"	"189861205"	"189861205"	"subst"	"0"	"02325"	"COL3A1_000044"	"g.189861205G>A"	""	""	""	"COL3A1(NM_000090.4):c.1744G>A (p.G582S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000884637"	"0"	"30"	"2"	"189861874"	"189861874"	"subst"	"4.0658E-6"	"02329"	"COL3A1_000917"	"g.189861874G>A"	""	""	""	"COL3A1(NM_000090.4):c.1762-17G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000884638"	"0"	"30"	"2"	"189863417"	"189863417"	"subst"	"6.09895E-5"	"02326"	"COL3A1_000768"	"g.189863417C>T"	""	""	""	"COL3A1(NM_000090.3):c.1995C>T (p.A665=), COL3A1(NM_000090.4):c.1995C>T (p.A665=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000884639"	"0"	"50"	"2"	"189863433"	"189863433"	"subst"	"0"	"02326"	"COL3A1_000918"	"g.189863433C>A"	""	""	""	"COL3A1(NM_000090.3):c.2011C>A (p.P671T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000884640"	"0"	"90"	"2"	"189864075"	"189864075"	"subst"	"0"	"01804"	"COL3A1_000919"	"g.189864075G>T"	""	""	""	"COL3A1(NM_000090.3):c.2087G>T (p.(Gly696Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000884641"	"0"	"90"	"2"	"189870129"	"189870129"	"del"	"0"	"02329"	"COL3A1_000920"	"g.189870129del"	""	""	""	"COL3A1(NM_000090.4):c.2985delT (p.G996Dfs*240)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000902666"	"0"	"79"	"2"	"189853316"	"189853316"	"subst"	"0"	"04305"	"COL3A1_000673"	"g.189853316G>A"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.188988590G>A"	""	"likely pathogenic"	"ACMG"
"0000902667"	"0"	"70"	"2"	"189853331"	"189853331"	"subst"	"0"	"04305"	"COL3A1_000921"	"g.189853331C>T"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.188988605C>T"	""	"likely pathogenic"	"ACMG"
"0000902668"	"0"	"79"	"2"	"189854144"	"189854149"	"del"	"0"	"04305"	"COL3A1_000922"	"g.189854144_189854149del"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.188989418_188989423del"	""	"VUS"	"ACMG"
"0000902669"	"0"	"99"	"2"	"189854150"	"189854150"	"subst"	"0"	"04305"	"COL3A1_000211"	"g.189854150G>A"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.188989424G>A"	""	"pathogenic"	"ACMG"
"0000902670"	"0"	"99"	"2"	"189854855"	"189854855"	"subst"	"4.07057E-6"	"04305"	"COL3A1_000923"	"g.189854855C>T"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.188990129C>T"	""	"pathogenic"	"ACMG"
"0000902671"	"0"	"79"	"2"	"189855042"	"189855042"	"subst"	"0"	"04305"	"COL3A1_000815"	"g.189855042G>A"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.188990316G>A"	""	"likely pathogenic"	"ACMG"
"0000902672"	"0"	"99"	"2"	"189855043"	"189855043"	"subst"	"0"	"04305"	"COL3A1_000020"	"g.189855043G>A"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.188990317G>A"	""	"pathogenic"	"ACMG"
"0000902673"	"0"	"70"	"2"	"189855051"	"189855051"	"subst"	"0"	"04305"	"COL3A1_000924"	"g.189855051G>T"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.188990325G>T"	""	"likely pathogenic"	"ACMG"
"0000902674"	"0"	"90"	"2"	"189855779"	"189855779"	"subst"	"0"	"04305"	"COL3A1_000925"	"g.189855779T>A"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.188991053T>A"	""	"pathogenic"	"ACMG"
"0000902675"	"0"	"77"	"2"	"189856259"	"189856259"	"subst"	"0"	"04305"	"COL3A1_000926"	"g.189856259T>G"	""	"{PMID:Aydiner 2020:32655343}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.188991533T>G"	""	"likely pathogenic"	"ACMG"
"0000902676"	"0"	"77"	"2"	"189856259"	"189856259"	"subst"	"0"	"04305"	"COL3A1_000163"	"g.189856259T>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188991533T>A"	""	"VUS"	"ACMG"
"0000902677"	"0"	"77"	"2"	"189856453"	"189856453"	"subst"	"0"	"04305"	"COL3A1_000677"	"g.189856453G>C"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.188991727G>C"	""	"likely pathogenic"	"ACMG"
"0000902678"	"0"	"77"	"2"	"189858809"	"189858809"	"subst"	"0"	"04305"	"COL3A1_000312"	"g.189858809G>A"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.188994083G>A"	""	"pathogenic"	"ACMG"
"0000902679"	"0"	"79"	"2"	"189859303"	"189859303"	"subst"	"0"	"04305"	"COL3A1_000035"	"g.189859303G>A"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.188994577G>A"	""	"pathogenic"	"ACMG"
"0000902680"	"0"	"77"	"2"	"189859319"	"189859319"	"subst"	"0"	"04305"	"COL3A1_000927"	"g.189859319G>T"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.188994593G>T"	""	"VUS"	"ACMG"
"0000902681"	"0"	"79"	"2"	"189860454"	"189860454"	"subst"	"0"	"04305"	"COL3A1_000928"	"g.189860454G>T"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.188995728G>T"	""	"likely pathogenic"	"ACMG"
"0000902682"	"0"	"70"	"2"	"189860464"	"189860465"	"delins"	"0"	"04305"	"COL3A1_000929"	"g.189860464_189860465delinsTT"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.188995738_188995739delinsTT"	""	"likely pathogenic"	"ACMG"
"0000902683"	"0"	"97"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"04305"	"COL3A1_000147"	"g.189860905G>A"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.188996179G>A"	""	"pathogenic"	"ACMG"
"0000902684"	"0"	"99"	"2"	"189862108"	"189862108"	"subst"	"0"	"04305"	"COL3A1_000456"	"g.189862108G>A"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.188997382G>A"	""	"pathogenic"	"ACMG"
"0000902688"	"0"	"77"	"2"	"189863050"	"189863050"	"subst"	"0"	"04305"	"COL3A1_000930"	"g.189863050G>C"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.188998324G>C"	""	"VUS"	"ACMG"
"0000902689"	"0"	"79"	"2"	"189864208"	"189864234"	"del"	"0"	"04305"	"COL3A1_000600"	"g.189864208_189864234del"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.188999482_188999508del"	""	"VUS"	"ACMG"
"0000902690"	"0"	"77"	"2"	"189864626"	"189864626"	"subst"	"0"	"04305"	"COL3A1_000931"	"g.189864626G>T"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.188999900G>T"	""	"VUS"	"ACMG"
"0000902691"	"0"	"99"	"2"	"189866280"	"189866280"	"subst"	"0"	"04305"	"COL3A1_000062"	"g.189866280G>A"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.189001554G>A"	""	"pathogenic"	"ACMG"
"0000902692"	"0"	"79"	"2"	"189866281"	"189866281"	"subst"	"0"	"04305"	"COL3A1_000932"	"g.189866281G>A"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.189001555G>A"	""	"likely pathogenic"	"ACMG"
"0000902931"	"0"	"99"	"2"	"189867753"	"189867753"	"subst"	"0"	"04305"	"COL3A1_000935"	"g.189867753G>A"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.189003027G>A"	""	"pathogenic"	"ACMG"
"0000902932"	"0"	"99"	"2"	"189868861"	"189868861"	"subst"	"0"	"04305"	"COL3A1_000512"	"g.189868861G>A"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.189004135G>A"	""	"pathogenic"	"ACMG"
"0000902933"	"0"	"79"	"2"	"189869028"	"189869028"	"subst"	"0"	"04305"	"COL3A1_000085"	"g.189869028G>A"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000902934"	"0"	"99"	"2"	"189869029"	"189869029"	"subst"	"0"	"04305"	"COL3A1_000520"	"g.189869029G>T"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.189004303G>T"	""	"pathogenic"	"ACMG"
"0000902935"	"0"	"79"	"2"	"189872226"	"189872226"	"subst"	"0"	"04305"	"COL3A1_000936"	"g.189872226G>C"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.189007500G>C"	""	"likely pathogenic"	"ACMG"
"0000902936"	"0"	"99"	"2"	"189872308"	"189872308"	"subst"	"0"	"04305"	"COL3A1_000937"	"g.189872308G>A"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.189007582G>A"	""	"pathogenic"	"ACMG"
"0000902937"	"0"	"77"	"2"	"189872869"	"189872869"	"subst"	"0"	"04305"	"COL3A1_000638"	"g.189872869G>A"	""	"{PMID:Yamaguchi et al., 2022:36189931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.189008143G>A"	""	"VUS"	"ACMG"
"0000903159"	"0"	"50"	"2"	"189862318"	"189862489"	"del"	"0"	"04423"	"COL3A1_000933"	"g.189862318_189862489del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188997592_188997763del"	""	"likely pathogenic"	"ACMG"
"0000903238"	"0"	"70"	"2"	"189858191"	"189858191"	"subst"	"0"	"04423"	"COL3A1_000934"	"g.189858191T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188993465T>C"	""	"likely pathogenic"	"ACMG"
"0000911484"	"0"	"30"	"2"	"189856391"	"189856391"	"subst"	"4.06375E-6"	"02329"	"COL3A1_000938"	"g.189856391G>A"	""	""	""	"COL3A1(NM_000090.4):c.898-4G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000911485"	"0"	"90"	"2"	"189867745"	"189867745"	"subst"	"0"	"02329"	"COL3A1_000939"	"g.189867745G>T"	""	""	""	"COL3A1(NM_000090.4):c.2510G>T (p.G837V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000911486"	"0"	"90"	"2"	"189868717"	"189868717"	"subst"	"0"	"02326"	"COL3A1_000286"	"g.189868717G>A"	""	""	""	"COL3A1(NM_000090.3):c.2671G>A (p.G891R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000911487"	"0"	"30"	"2"	"189868734"	"189868734"	"subst"	"8.18485E-6"	"02329"	"COL3A1_000940"	"g.189868734C>T"	""	""	""	"COL3A1(NM_000090.4):c.2688C>T (p.S896=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000911488"	"0"	"50"	"2"	"189868769"	"189868769"	"subst"	"5.29937E-5"	"02326"	"COL3A1_000941"	"g.189868769C>T"	""	""	""	"COL3A1(NM_000090.3):c.2723C>T (p.A908V), COL3A1(NM_000090.4):c.2723C>T (p.(Ala908Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000911489"	"0"	"30"	"2"	"189870199"	"189870199"	"subst"	"0.00108132"	"02326"	"COL3A1_000862"	"g.189870199T>G"	""	""	""	"COL3A1(NM_000090.3):c.3039+16T>G, COL3A1(NM_000090.4):c.3039+16T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000911490"	"0"	"30"	"2"	"189872608"	"189872608"	"subst"	"0"	"02326"	"COL3A1_000782"	"g.189872608C>T"	""	""	""	"COL3A1(NM_000090.3):c.3364-3C>T (p.?), COL3A1(NM_000090.4):c.3364-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000916941"	"0"	"77"	"2"	"189876499"	"189876499"	"subst"	"0"	"04452"	"COL3A1_000627"	"g.189876499A>T"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.189011773A>T"	""	"pathogenic"	""
"0000916943"	"0"	"90"	"2"	"189861175"	"189861175"	"subst"	"4.06263E-6"	"04452"	"COL3A1_000711"	"g.189861175C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.188996449C>T"	""	"pathogenic"	""
"0000916944"	"0"	"99"	"2"	"189868843"	"189868843"	"subst"	"0"	"04452"	"COL3A1_000954"	"g.189868843G>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.189004117G>T"	""	"pathogenic"	""
"0000916946"	"0"	"90"	"2"	"189872843"	"189872843"	"subst"	"0"	"04452"	"COL3A1_000959"	"g.189872843G>A"	""	""	""	""	""	"Germline"	"?"	""	""	""	""	"g.189008117G>A"	""	"pathogenic"	""
"0000916985"	"0"	"99"	"2"	"189853343"	"189853343"	"subst"	"0"	"04452"	"COL3A1_000946"	"g.189853343G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188988617G>C"	""	"pathogenic"	""
"0000916986"	"0"	"90"	"2"	"189875500"	"189875500"	"del"	"0"	"04452"	"COL3A1_000961"	"g.189875500del"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.189010774del"	""	"pathogenic"	""
"0000916987"	"0"	"90"	"2"	"189870148"	"189870148"	"subst"	"0"	"04452"	"COL3A1_000958"	"g.189870148G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.189005422G>A"	""	"pathogenic"	""
"0000916988"	"0"	"90"	"2"	"189864020"	"189864020"	"subst"	"0"	"04452"	"COL3A1_000950"	"g.189864020G>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.188999294G>C"	""	"pathogenic"	""
"0000916989"	"0"	"90"	"2"	"189863418"	"189863418"	"subst"	"1.6264E-5"	"04452"	"COL3A1_000949"	"g.189863418G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.188998692G>A"	""	"pathogenic"	""
"0000916991"	"0"	"90"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"04452"	"COL3A1_000147"	"g.189860905G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.188996179G>A"	""	"pathogenic"	""
"0000916993"	"0"	"90"	"2"	"189864197"	"189864197"	"subst"	"0"	"04452"	"COL3A1_000951"	"g.189864197G>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.188999471G>C"	""	"pathogenic"	""
"0000916994"	"0"	"90"	"2"	"189873678"	"189873678"	"subst"	"0"	"04452"	"COL3A1_000121"	"g.189873678G>T"	""	""	""	""	""	"De novo"	""	""	""	""	""	"g.189008952G>T"	""	"pathogenic"	""
"0000916995"	"0"	"90"	"2"	"189867041"	"189867054"	"del"	"0"	"04452"	"COL3A1_000942"	"g.189867041_189867054del"	""	""	""	"2409_2422del14"	""	"Germline"	""	""	"0"	""	""	"g.189002315_189002328del"	""	"pathogenic"	""
"0000916996"	"0"	"99"	"2"	"189853326"	"189853326"	"subst"	"0"	"04452"	"COL3A1_000945"	"g.189853326G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188988600G>T"	""	"pathogenic"	""
"0000916997"	"0"	"99"	"2"	"189860463"	"189860463"	"subst"	"0"	"04452"	"COL3A1_000948"	"g.189860463G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188995737G>A"	""	"pathogenic"	""
"0000916998"	"0"	"90"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"04452"	"COL3A1_000147"	"g.189860905G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.188996179G>A"	""	"pathogenic"	""
"0000916999"	"0"	"90"	"2"	"189868844"	"189868844"	"subst"	"0"	"04452"	"COL3A1_000955"	"g.189868844G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.189004118G>A"	""	"pathogenic"	""
"0000917000"	"0"	"99"	"2"	"189856928"	"189856928"	"subst"	"0"	"04452"	"COL3A1_000030"	"g.189856928G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188992202G>A"	""	"pathogenic"	""
"0000917001"	"0"	"90"	"2"	"189870095"	"189870095"	"subst"	"0"	"04452"	"COL3A1_000957"	"g.189870095G>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.189005369G>T"	""	"pathogenic"	""
"0000917002"	"0"	"90"	"2"	"189869082"	"189869082"	"subst"	"0"	"04452"	"COL3A1_000956"	"g.189869082G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.189004356G>A"	""	"pathogenic"	""
"0000917003"	"0"	"90"	"2"	"189872869"	"189872869"	"subst"	"0"	"04452"	"COL3A1_000638"	"g.189872869G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.189008143G>A"	""	"pathogenic"	""
"0000917004"	"0"	"90"	"2"	"189867024"	"189867024"	"subst"	"0"	"04452"	"COL3A1_000629"	"g.189867024G>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.189001442G>C"	""	"pathogenic"	""
"0000917005"	"0"	"99"	"2"	"189861161"	"189861161"	"subst"	"0"	"04452"	"COL3A1_000043"	"g.189861161G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188996435G>A"	""	"pathogenic"	""
"0000917006"	"0"	"90"	"2"	"189860905"	"189860905"	"subst"	"0"	"04452"	"COL3A1_000355"	"g.189860905G>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.188996179G>C"	""	"pathogenic"	""
"0000917007"	"0"	"90"	"2"	"189871081"	"189871081"	"subst"	"0"	"04452"	"COL3A1_000537"	"g.189871081G>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.189006355G>T"	""	"pathogenic"	""
"0000917008"	"0"	"90"	"2"	"189867080"	"189867083"	"del"	"0"	"04452"	"COL3A1_000953"	"g.189867080_189867083del"	""	""	""	""	""	"De novo"	""	""	""	""	""	"g.189002354_189002357del"	""	"pathogenic"	""
"0000917009"	"0"	"90"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"04452"	"COL3A1_000147"	"g.189860905G>A"	""	""	""	""	""	"De novo"	""	""	""	""	""	"g.188996179G>A"	""	"pathogenic"	""
"0000917010"	"0"	"99"	"2"	"189856928"	"189856928"	"subst"	"0"	"04452"	"COL3A1_000030"	"g.189856928G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188992202G>A"	""	"pathogenic"	""
"0000917011"	"0"	"99"	"2"	"189850439"	"189850439"	"subst"	"4.07571E-6"	"04452"	"COL3A1_000943"	"g.189850439C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188985713C>T"	""	"pathogenic"	""
"0000917013"	"0"	"99"	"2"	"189855043"	"189855043"	"subst"	"0"	"04452"	"COL3A1_000021"	"g.189855043G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188990317G>T"	""	"pathogenic"	""
"0000917014"	"0"	"90"	"2"	"189864093"	"189864093"	"subst"	"0"	"04452"	"COL3A1_000480"	"g.189864093G>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.188999367G>T"	""	"pathogenic"	""
"0000917015"	"0"	"90"	"2"	"189872870"	"189872870"	"subst"	"0"	"04452"	"COL3A1_000960"	"g.189872870T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.189008144T>C"	""	"pathogenic"	""
"0000917016"	"0"	"90"	"2"	"189863410"	"189863410"	"subst"	"0"	"04452"	"COL3A1_000079"	"g.189863410G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.188998684G>A"	""	"pathogenic"	""
"0000917017"	"0"	"90"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"04452"	"COL3A1_000147"	"g.189860905G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.188996179G>A"	""	"pathogenic"	""
"0000917018"	"0"	"90"	"2"	"189867033"	"189867033"	"subst"	"0"	"04452"	"COL3A1_000952"	"g.189867033G>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.189002307G>C"	""	"pathogenic"	""
"0000917019"	"0"	"90"	"2"	"189868137"	"189868137"	"subst"	"0"	"04452"	"COL3A1_000068"	"g.189868137G>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.189003411G>T"	""	"pathogenic"	""
"0000917020"	"0"	"99"	"2"	"189856959"	"189856959"	"subst"	"0"	"04452"	"COL3A1_000947"	"g.189856959G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188992233G>A"	""	"pathogenic"	""
"0000917021"	"0"	"99"	"2"	"189856959"	"189856959"	"subst"	"0"	"04452"	"COL3A1_000947"	"g.189856959G>T"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.188992233G>A"	""	"pathogenic"	""
"0000917022"	"0"	"99"	"2"	"189859321"	"189859321"	"subst"	"0"	"04452"	"COL3A1_000166"	"g.189859321G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188994595G>A"	""	"pathogenic"	""
"0000917023"	"0"	"99"	"2"	"189852861"	"189852861"	"subst"	"0"	"04452"	"COL3A1_000944"	"g.189852861G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188988135G>A"	""	"pathogenic"	""
"0000917491"	"3"	"70"	"2"	"189849596"	"189849596"	"subst"	"0"	"03312"	"COL3A1_000962"	"g.189849596G>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.188984870G>T"	""	"VUS"	"ACMG"
"0000918640"	"0"	"90"	"2"	"189861892"	"189861892"	"subst"	"0"	"04452"	"COL3A1_000045"	"g.189861892G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188997166G>A"	""	"pathogenic (dominant)"	""
"0000918641"	"0"	"90"	"2"	"189853317"	"189853317"	"subst"	"0"	"04452"	"COL3A1_000967"	"g.189853317G>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188988591G>T"	""	"pathogenic (dominant)"	""
"0000918642"	"0"	"90"	"2"	"189863446"	"189863446"	"subst"	"0"	"04452"	"COL3A1_000469"	"g.189863446T>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188998720T>C"	""	"pathogenic (dominant)"	""
"0000918643"	"0"	"90"	"2"	"189870959"	"189870959"	"subst"	"0"	"04452"	"COL3A1_000985"	"g.189870959G>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.189006233G>C"	""	"pathogenic (dominant)"	""
"0000918644"	"0"	"90"	"2"	"189864565"	"189864593"	"del"	"0"	"04452"	"COL3A1_000978"	"g.189864565_189864593del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188999839_188999867del"	""	"pathogenic (dominant)"	""
"0000918645"	"0"	"90"	"2"	"189861227"	"189861227"	"subst"	"0"	"04452"	"COL3A1_000450"	"g.189861227G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188996501G>A"	""	"pathogenic (dominant)"	""
"0000918646"	"0"	"90"	"2"	"189856396"	"189856396"	"subst"	"0"	"04452"	"COL3A1_000404"	"g.189856396G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188991670G>A"	""	"pathogenic (dominant)"	""
"0000918647"	"0"	"90"	"2"	"189871126"	"189871126"	"subst"	"0"	"04452"	"COL3A1_000098"	"g.189871126G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.189006400G>A"	""	"pathogenic (dominant)"	""
"0000918648"	"0"	"90"	"2"	"189870186"	"189870186"	"subst"	"0"	"04452"	"COL3A1_000984"	"g.189870186G>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.189005460G>C"	""	"pathogenic (dominant)"	""
"0000918649"	"0"	"90"	"2"	"189852825"	"189852825"	"subst"	"0"	"04452"	"COL3A1_000006"	"g.189852825G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188988099G>A"	""	"pathogenic (dominant)"	""
"0000918650"	"0"	"90"	"2"	"189859006"	"189859006"	"subst"	"0"	"04452"	"COL3A1_000973"	"g.189859006G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188994280G>A"	""	"pathogenic (dominant)"	""
"0000918651"	"0"	"90"	"2"	"189854149"	"189854149"	"subst"	"0"	"04452"	"COL3A1_000969"	"g.189854149G>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188989423G>C"	""	"pathogenic (dominant)"	""
"0000918652"	"0"	"90"	"2"	"189856909"	"189856909"	"subst"	"0"	"04452"	"COL3A1_000971"	"g.189856909G>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188992183G>T"	""	"pathogenic (dominant)"	""
"0000918653"	"0"	"90"	"2"	"189859303"	"189859303"	"subst"	"0"	"04452"	"COL3A1_000035"	"g.189859303G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188994577G>A"	""	"pathogenic (dominant)"	""
"0000918654"	"0"	"90"	"2"	"189867022"	"189867022"	"subst"	"0"	"04452"	"COL3A1_000980"	"g.189867022A>G"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.189002296A>G"	""	"pathogenic (dominant)"	""
"0000918655"	"0"	"90"	"2"	"189859818"	"189859818"	"subst"	"0"	"04452"	"COL3A1_000975"	"g.189859818G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188995092G>A"	""	"pathogenic (dominant)"	""
"0000918656"	"0"	"90"	"2"	"189854141"	"189854141"	"subst"	"0"	"04452"	"COL3A1_000390"	"g.189854141G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188989415G>A"	""	"pathogenic (dominant)"	""
"0000918657"	"0"	"90"	"2"	"188498336"	"200267551"	"del"	"0"	"04452"	"COL3A1_000963"	"g.(188405810_188498336)_(200267551_200275296)del"	""	""	""	"2q deletion"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000918658"	"0"	"90"	"2"	"189871673"	"189871673"	"subst"	"0"	"04452"	"COL3A1_000100"	"g.189871673G>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.189006947G>T"	""	"pathogenic (dominant)"	""
"0000918659"	"0"	"90"	"2"	"189869010"	"189869010"	"subst"	"0"	"04452"	"COL3A1_000983"	"g.189869010G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.189004284G>A"	""	"pathogenic (dominant)"	""
"0000918660"	"0"	"90"	"2"	"189876393"	"189876393"	"subst"	"0"	"04452"	"COL3A1_000124"	"g.189876393C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.189011667C>T"	""	"pathogenic (dominant)"	""
"0000918661"	"0"	"90"	"2"	"189862471"	"189862471"	"subst"	"0"	"04452"	"COL3A1_000460"	"g.189862471G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188997745G>A"	""	"pathogenic (dominant)"	""
"0000918662"	"0"	"90"	"2"	"189859268"	"189859268"	"subst"	"0"	"04452"	"COL3A1_000974"	"g.189859268G>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188994542G>T"	""	"pathogenic (dominant)"	""
"0000918663"	"0"	"90"	"2"	"0"	"0"	""	"0"	"04452"	"COL3A1_000963"	"g.(g.(?_186534129)_(202840810_?)del"	""	""	""	"2q deletion"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000918664"	"0"	"90"	"2"	"189857623"	"189857623"	"subst"	"0"	"04452"	"COL3A1_000972"	"g.189857623G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188992897G>A"	""	"pathogenic (dominant)"	""
"0000918665"	"0"	"90"	"2"	"186408968"	"201568314"	"del"	"0"	"04452"	"COL3A1_000963"	"g.(?_186408968)_(201568314_?)del"	""	""	""	"2q deletion"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000918666"	"21"	"90"	"2"	"189861223"	"189861223"	"subst"	"0"	"04452"	"COL3A1_000213"	"g.189861223G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188996497G>A"	""	"pathogenic (dominant)"	""
"0000918667"	"21"	"90"	"2"	"189868993"	"189868993"	"subst"	"0"	"04452"	"COL3A1_000982"	"g.189868993G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.189004267G>A"	""	"pathogenic (dominant)"	""
"0000918668"	"11"	"90"	"2"	"189855043"	"189855043"	"subst"	"0"	"04452"	"COL3A1_000021"	"g.189855043G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188990317G>T"	""	"pathogenic (dominant)"	""
"0000918669"	"0"	"90"	"2"	"189855776"	"189855776"	"subst"	"0"	"04452"	"COL3A1_000970"	"g.189855776G>A"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.188991050G>A"	""	"pathogenic (dominant)"	""
"0000918670"	"11"	"90"	"2"	"189857614"	"189857614"	"subst"	"0"	"04452"	"COL3A1_000418"	"g.189857614G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188992888G>A"	""	"pathogenic (dominant)"	""
"0000918671"	"21"	"90"	"2"	"189860860"	"189860860"	"subst"	"0"	"04452"	"COL3A1_000040"	"g.189860860G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188996134G>A"	""	"pathogenic (dominant)"	""
"0000918672"	"0"	"90"	"2"	"189852815"	"189852832"	"del"	"0"	"04452"	"COL3A1_000966"	"g.189852815_189852832del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188988089_188988106del"	""	"pathogenic (dominant)"	""
"0000918673"	"0"	"90"	"2"	"189872254"	"189872254"	"subst"	"0"	"04452"	"COL3A1_000550"	"g.189872254G>A"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.189007528G>A"	""	"pathogenic (dominant)"	""
"0000918674"	"0"	"90"	"2"	"189864251"	"189864251"	"subst"	"0"	"04452"	"COL3A1_000977"	"g.189864251G>T"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.188999525G>T"	""	"pathogenic (dominant)"	""
"0000918675"	"11"	"90"	"2"	"189867718"	"189867718"	"subst"	"0"	"04452"	"COL3A1_000351"	"g.189867718G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.189002992G>A"	""	"pathogenic (dominant)"	""
"0000918676"	"0"	"90"	"2"	"189864251"	"189864251"	"subst"	"0"	"04452"	"COL3A1_000977"	"g.189864251G>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188999525G>T"	""	"pathogenic (dominant)"	""
"0000918677"	"21"	"90"	"2"	"189854176"	"189854176"	"subst"	"0"	"04452"	"COL3A1_000141"	"g.189854176G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188989450G>A"	""	"pathogenic (dominant)"	""
"0000918678"	"21"	"90"	"2"	"189863401"	"189863401"	"del"	"0"	"04452"	"COL3A1_000976"	"g.189863401del"	""	""	""	"1979delG"	""	"Germline"	""	""	"0"	""	""	"g.188998675del"	""	"pathogenic (dominant)"	""
"0000918679"	"11"	"90"	"2"	"189867726"	"189867726"	"subst"	"0"	"04452"	"COL3A1_000981"	"g.189867726G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.189003000G>C"	""	"pathogenic (dominant)"	""
"0000918680"	"21"	"90"	"2"	"189871179"	"189871179"	"subst"	"0"	"04452"	"COL3A1_000986"	"g.189871179G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.189006453G>C"	""	"pathogenic (dominant)"	""
"0000918681"	"21"	"90"	"2"	"189861205"	"189861205"	"subst"	"0"	"04452"	"COL3A1_000044"	"g.189861205G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188996479G>A"	""	"pathogenic (dominant)"	""
"0000918682"	"0"	"90"	"2"	"189871674"	"189871682"	"dup"	"0"	"04452"	"COL3A1_000987"	"g.189871674_189871682dup"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.189006948_189006956dup"	""	"pathogenic (dominant)"	""
"0000918683"	"0"	"90"	"2"	"185234253"	"214491747"	"del"	"0"	"04452"	"COL3A1_000963"	"g.(185139669_185234253)_(214491747_214548932)del"	""	""	""	"2q deletion"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000918684"	"0"	"90"	"2"	"189864056"	"189864056"	"subst"	"0"	"04452"	"COL3A1_000474"	"g.189864056G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188999330G>A"	""	"pathogenic (dominant)"	""
"0000918685"	"21"	"90"	"2"	"189853325"	"189853325"	"subst"	"0"	"04452"	"COL3A1_000968"	"g.189853325G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188988599G>T"	""	"pathogenic (dominant)"	""
"0000918686"	"0"	"90"	"2"	"189855043"	"189855043"	"subst"	"0"	"04452"	"COL3A1_000021"	"g.189855043G>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188990317G>T"	""	"pathogenic (dominant)"	""
"0000918687"	"21"	"90"	"2"	"189866263"	"189866263"	"subst"	"0"	"04452"	"COL3A1_000979"	"g.189866263G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.189001537G>A"	""	"pathogenic (dominant)"	""
"0000918688"	"11"	"90"	"2"	"189866280"	"189866280"	"subst"	"0"	"04452"	"COL3A1_000062"	"g.189866280G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.189001554G>A"	""	"pathogenic (dominant)"	""
"0000918689"	"0"	"90"	"2"	"189852817"	"189852817"	"subst"	"0"	"04452"	"COL3A1_000250"	"g.189852817G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188988091G>A"	""	"pathogenic (dominant)"	""
"0000918690"	"21"	"90"	"2"	"189872638"	"189872638"	"subst"	"0"	"04452"	"COL3A1_000556"	"g.189872638G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.189007912G>A"	""	"pathogenic (dominant)"	""
"0000918691"	"0"	"90"	"2"	"189866124"	"189866124"	"subst"	"0"	"04452"	"COL3A1_000332"	"g.189866124G>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.189001398G>T"	""	"pathogenic (dominant)"	""
"0000918692"	"1"	"90"	"2"	"189866168"	"189866168"	"subst"	"0"	"04452"	"COL3A1_000629"	"g.189866168G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.189001442G>C"	""	"pathogenic (dominant)"	""
"0000918693"	"11"	"90"	"2"	"189859023"	"189859023"	"subst"	"0"	"04452"	"COL3A1_000228"	"g.189859023G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.188994297G>A"	""	"pathogenic (dominant)"	""
"0000918694"	"0"	"90"	"2"	"189873948"	"189873948"	"subst"	"0"	"04452"	"COL3A1_000814"	"g.189873948G>A"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.189009222G>A"	""	"pathogenic (dominant)"	""
"0000918695"	"0"	"90"	"2"	"189869083"	"189869083"	"subst"	"0"	"04452"	"COL3A1_000311"	"g.189869083G>T"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.189004357G>T"	""	"pathogenic (dominant)"	""
"0000918902"	"0"	"50"	"2"	"189850380"	"189850380"	"subst"	"4.25709E-6"	"04136"	"COL3A1_000964"	"g.189850380C>G"	""	"Leone 2023, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.188985654C>G"	""	"VUS"	""
"0000918904"	"10"	"30"	"2"	"189851852"	"189851852"	"subst"	"9.76634E-5"	"04136"	"COL3A1_000965"	"g.189851852A>C"	""	"Leone 2023, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.188987126A>C"	""	"likely benign"	""
"0000922735"	"0"	"90"	"2"	"189854840"	"189854840"	"subst"	"0"	"03779"	"COL3A1_000260"	"g.189854840G>A"	""	""	""	""	""	"Unknown"	""	"rs587779625"	"0"	""	""	""	""	"pathogenic"	""
"0000923532"	"0"	"30"	"2"	"189849470"	"189849470"	"subst"	"0.00213527"	"02326"	"COL3A1_000818"	"g.189849470C>T"	""	""	""	"COL3A1(NM_000090.3):c.80-16C>T, COL3A1(NM_000090.4):c.80-16C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000923533"	"0"	"50"	"2"	"189849527"	"189849527"	"subst"	"1.62792E-5"	"02329"	"COL3A1_000988"	"g.189849527G>T"	""	""	""	"COL3A1(NM_000090.4):c.121G>T (p.D41Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000923534"	"0"	"30"	"2"	"189860901"	"189860901"	"subst"	"0.000918206"	"02326"	"COL3A1_000185"	"g.189860901T>A"	""	""	""	"COL3A1(NM_000090.3):c.1659T>A (p.P553=), COL3A1(NM_000090.4):c.1659T>A (p.P553=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000923535"	"0"	"30"	"2"	"189862416"	"189862416"	"subst"	"0"	"02329"	"COL3A1_000989"	"g.189862416A>G"	""	""	""	"COL3A1(NM_000090.4):c.1870-10A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000923536"	"0"	"30"	"2"	"189863283"	"189863283"	"subst"	"0"	"02329"	"COL3A1_000990"	"g.189863283A>G"	""	""	""	"COL3A1(NM_000090.4):c.1978-117A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000923537"	"0"	"50"	"2"	"189871128"	"189871128"	"subst"	"0"	"02329"	"COL3A1_000991"	"g.189871128C>A"	""	""	""	"COL3A1(NM_000090.4):c.3151C>A (p.P1051T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000923538"	"0"	"30"	"2"	"189872603"	"189872603"	"subst"	"6.9072E-5"	"02326"	"COL3A1_000867"	"g.189872603C>T"	""	""	""	"COL3A1(NM_000090.3):c.3364-8C>T, COL3A1(NM_000090.4):c.3364-8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000923539"	"0"	"30"	"2"	"189873778"	"189873778"	"subst"	"0.00102785"	"02326"	"COL3A1_000189"	"g.189873778G>T"	""	""	""	"COL3A1(NM_000090.3):c.3654G>T (p.P1218=), COL3A1(NM_000090.4):c.3654G>T (p.P1218=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000928446"	"0"	"30"	"2"	"189860544"	"189860544"	"subst"	"0"	"02329"	"COL3A1_000992"	"g.189860544A>G"	""	""	""	"COL3A1(NM_000090.4):c.1608+28A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000928447"	"0"	"30"	"2"	"189862100"	"189862100"	"subst"	"0.000101573"	"02326"	"COL3A1_000871"	"g.189862100A>T"	""	""	""	"COL3A1(NM_000090.3):c.1854A>T (p.G618=), COL3A1(NM_000090.4):c.1854A>T (p.G618=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000928448"	"0"	"30"	"2"	"189862648"	"189862648"	"subst"	"0"	"02329"	"COL3A1_000993"	"g.189862648G>A"	""	""	""	"COL3A1(NM_000090.4):c.1923+169G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000928449"	"0"	"30"	"2"	"189863265"	"189863265"	"subst"	"0"	"02329"	"COL3A1_000994"	"g.189863265A>G"	""	""	""	"COL3A1(NM_000090.4):c.1978-135A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000928450"	"0"	"50"	"2"	"189867733"	"189867733"	"subst"	"0.000133996"	"02329"	"COL3A1_000995"	"g.189867733A>G"	""	""	""	"COL3A1(NM_000090.4):c.2498A>G (p.K833R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000928451"	"0"	"70"	"2"	"189867789"	"189867789"	"subst"	"0"	"02327"	"COL3A1_000318"	"g.189867789G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000928452"	"0"	"50"	"2"	"189871128"	"189871128"	"subst"	"0"	"02325"	"COL3A1_000991"	"g.189871128C>A"	""	""	""	"COL3A1(NM_000090.4):c.3151C>A (p.P1051T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000936026"	"0"	"90"	"2"	"189851870"	"189851870"	"subst"	"0"	"00006"	"COL3A1_000736"	"g.189851870G>A"	""	"{PMID:Chuan 2022:35571021}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188987144G>A"	""	"pathogenic (dominant)"	""
"0000944866"	"0"	"30"	"2"	"189851809"	"189851809"	"subst"	"7.32338E-5"	"03779"	"COL3A1_000996"	"g.189851809T>A"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs756125442"	"0"	""	""	""	""	"likely benign"	""
"0000947647"	"0"	"30"	"2"	"189853034"	"189853034"	"subst"	"0"	"02329"	"COL3A1_000997"	"g.189853034A>G"	""	""	""	"COL3A1(NM_000090.4):c.582+174A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000947648"	"0"	"30"	"2"	"189853302"	"189853302"	"subst"	"0"	"02329"	"COL3A1_000998"	"g.189853302A>T"	""	""	""	"COL3A1(NM_000090.4):c.583-14A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000947649"	"0"	"30"	"2"	"189856273"	"189856273"	"dup"	"0"	"02329"	"COL3A1_000999"	"g.189856273dup"	""	""	""	"COL3A1(NM_000090.4):c.897+16dupA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000947650"	"0"	"50"	"2"	"189858093"	"189858093"	"subst"	"0"	"02329"	"COL3A1_001000"	"g.189858093G>T"	""	""	""	"COL3A1(NM_000090.4):c.1057G>T (p.V353F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000947651"	"0"	"10"	"2"	"189859446"	"189859446"	"dup"	"0"	"02326"	"COL3A1_000758"	"g.189859446dup"	""	""	""	"COL3A1(NM_000090.3):c.1348-4dupT, COL3A1(NM_000090.4):c.1348-4dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000947652"	"0"	"30"	"2"	"189860380"	"189860380"	"subst"	"0"	"02329"	"COL3A1_001001"	"g.189860380G>A"	""	""	""	"COL3A1(NM_000090.4):c.1510-38G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000947653"	"0"	"30"	"2"	"189862161"	"189862161"	"subst"	"1.22311E-5"	"02329"	"COL3A1_001002"	"g.189862161G>T"	""	""	""	"COL3A1(NM_000090.4):c.1869+46G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000947654"	"0"	"30"	"2"	"189863054"	"189863054"	"subst"	"0.000466025"	"02329"	"COL3A1_000888"	"g.189863054C>T"	""	""	""	"COL3A1(NM_000090.4):c.1977+9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000947655"	"0"	"90"	"2"	"189864304"	"189864304"	"subst"	"0"	"02329"	"COL3A1_001003"	"g.189864304G>T"	""	""	""	"COL3A1(NM_000090.4):c.2229+1G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000947656"	"0"	"30"	"2"	"189864541"	"189864541"	"subst"	"4.48024E-5"	"02329"	"COL3A1_001004"	"g.189864541C>G"	""	""	""	"COL3A1(NM_000090.4):c.2230-27C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000947657"	"0"	"30"	"2"	"189865895"	"189865895"	"subst"	"0"	"02329"	"COL3A1_001005"	"g.189865895A>G"	""	""	""	"COL3A1(NM_000090.4):c.2284-228A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000947658"	"0"	"90"	"2"	"189866123"	"189866123"	"subst"	"0"	"02329"	"COL3A1_000302"	"g.189866123G>C"	""	""	""	"COL3A1(NM_000090.4):c.2284G>C (p.G762R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000947659"	"0"	"90"	"2"	"189868735"	"189868735"	"subst"	"4.08814E-6"	"02329"	"COL3A1_000857"	"g.189868735G>A"	""	""	""	"COL3A1(NM_000090.3):c.2689G>A (p.G897S), COL3A1(NM_000090.4):c.2689G>A (p.G897S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000947660"	"0"	"30"	"2"	"189868746"	"189868746"	"subst"	"0.000469303"	"02329"	"COL3A1_000858"	"g.189868746C>T"	""	""	""	"COL3A1(NM_000090.3):c.2700C>T (p.G900=), COL3A1(NM_000090.4):c.2700C>T (p.G900=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000947661"	"0"	"30"	"2"	"189870068"	"189870068"	"subst"	"0"	"02329"	"COL3A1_000861"	"g.189870068G>C"	""	""	""	"COL3A1(NM_000090.3):c.2932-8G>C (p.(=)), COL3A1(NM_000090.4):c.2932-8G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000947662"	"0"	"30"	"2"	"189871578"	"189871578"	"subst"	"0"	"02329"	"COL3A1_001006"	"g.189871578A>T"	""	""	""	"COL3A1(NM_000090.4):c.3202-85A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000947663"	"0"	"30"	"2"	"189871984"	"189871984"	"subst"	"0"	"02329"	"COL3A1_001007"	"g.189871984A>G"	""	""	""	"COL3A1(NM_000090.4):c.3256-242A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000947664"	"0"	"10"	"2"	"189873737"	"189873737"	"subst"	"0.00430632"	"02326"	"COL3A1_000181"	"g.189873737A>G"	""	""	""	"COL3A1(NM_000090.3):c.3613A>G (p.I1205V), COL3A1(NM_000090.4):c.3613A>G (p.I1205V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000947665"	"0"	"30"	"2"	"189874652"	"189874652"	"subst"	"0"	"02329"	"COL3A1_001008"	"g.189874652A>G"	""	""	""	"COL3A1(NM_000090.4):c.3824-252A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000957709"	"0"	"70"	"2"	"189875018"	"189875018"	"subst"	"0.000804192"	"00006"	"COL3A1_000231"	"g.189875018A>G"	""	"{PMID:Stevens 2016:27964749}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.189010292A>G"	""	"VUS"	""
"0000960174"	"0"	"90"	"2"	"189864569"	"189864569"	"subst"	"0"	"03779"	"COL3A1_000601"	"g.189864569G>A"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000961749"	"0"	"30"	"2"	"189850294"	"189850294"	"subst"	"0"	"02329"	"COL3A1_001009"	"g.189850294G>A"	""	""	""	"COL3A1(NM_000090.4):c.334-97G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000961750"	"0"	"30"	"2"	"189854414"	"189854414"	"subst"	"0"	"02329"	"COL3A1_001010"	"g.189854414A>G"	""	""	""	"COL3A1(NM_000090.4):c.690+239A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000961751"	"0"	"30"	"2"	"189854975"	"189854975"	"subst"	"0"	"02329"	"COL3A1_001011"	"g.189854975T>A"	""	""	""	"COL3A1(NM_000090.4):c.745-58T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000961752"	"0"	"30"	"2"	"189861671"	"189861671"	"subst"	"0"	"02329"	"COL3A1_001012"	"g.189861671C>T"	""	""	""	"COL3A1(NM_000090.4):c.1762-220C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000961753"	"0"	"50"	"2"	"189861915"	"189861915"	"subst"	"0"	"02326"	"COL3A1_001013"	"g.189861915C>G"	""	""	""	"COL3A1(NM_000090.3):c.1786C>G (p.R596G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000961754"	"0"	"30"	"2"	"189862636"	"189862636"	"subst"	"0"	"02329"	"COL3A1_001014"	"g.189862636G>A"	""	""	""	"COL3A1(NM_000090.4):c.1923+157G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000961755"	"0"	"30"	"2"	"189862730"	"189862730"	"subst"	"0"	"02329"	"COL3A1_001015"	"g.189862730C>T"	""	""	""	"COL3A1(NM_000090.4):c.1923+251C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000961756"	"0"	"30"	"2"	"189864044"	"189864044"	"subst"	"0.000342663"	"02329"	"COL3A1_000201"	"g.189864044C>G"	""	""	""	"COL3A1(NM_000090.3):c.2056C>G (p.P686A), COL3A1(NM_000090.4):c.2056C>G (p.P686A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000961757"	"0"	"30"	"2"	"189864376"	"189864376"	"subst"	"0"	"02329"	"COL3A1_001016"	"g.189864376A>G"	""	""	""	"COL3A1(NM_000090.4):c.2229+73A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000961758"	"0"	"30"	"2"	"189866982"	"189866982"	"subst"	"5.29001E-5"	"02329"	"COL3A1_001017"	"g.189866982C>T"	""	""	""	"COL3A1(NM_000090.4):c.2392-42C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000961759"	"0"	"30"	"2"	"189868441"	"189868441"	"subst"	"2.84336E-5"	"02329"	"COL3A1_001018"	"g.189868441A>C"	""	""	""	"COL3A1(NM_000090.4):c.2608-19A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000961760"	"0"	"90"	"2"	"189868837"	"189868837"	"subst"	"0"	"02329"	"COL3A1_000902"	"g.189868837G>A"	""	""	""	"COL3A1(NM_000090.4):c.2791G>A (p.E931K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000961761"	"0"	"30"	"2"	"189869216"	"189869216"	"dup"	"0"	"02329"	"COL3A1_001019"	"g.189869216dup"	""	""	""	"COL3A1(NM_000090.4):c.2931+126dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000961762"	"0"	"30"	"2"	"189871040"	"189871040"	"subst"	"4.0627E-6"	"02329"	"COL3A1_001020"	"g.189871040G>A"	""	""	""	"COL3A1(NM_000090.4):c.3094-31G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000961763"	"0"	"30"	"2"	"189873428"	"189873428"	"subst"	"0"	"02329"	"COL3A1_001021"	"g.189873428G>A"	""	""	""	"COL3A1(NM_000090.4):c.3526-222G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000961764"	"0"	"30"	"2"	"189875938"	"189875938"	"subst"	"0"	"02329"	"COL3A1_001022"	"g.189875938T>C"	""	""	""	"COL3A1(NM_000090.4):c.4254+322T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000972077"	"0"	"90"	"2"	"189873903"	"189873903"	"del"	"0"	"02284"	"COL3A1_001023"	"g.189873903del"	""	""	""	""	"The patient has 3 children carrying the variant"	"De novo"	""	""	"0"	""	""	"g.189009177del"	""	"pathogenic (dominant)"	"ACMG"
"0000974808"	"0"	"30"	"2"	"189849260"	"189849260"	"subst"	"0"	"02329"	"COL3A1_001024"	"g.189849260G>C"	""	""	""	"COL3A1(NM_000090.4):c.80-226G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000974809"	"0"	"30"	"2"	"189853125"	"189853125"	"subst"	"0"	"02329"	"COL3A1_001025"	"g.189853125G>T"	""	""	""	"COL3A1(NM_000090.4):c.583-191G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000974810"	"0"	"50"	"2"	"189854870"	"189854870"	"subst"	"0"	"02329"	"COL3A1_001026"	"g.189854870C>A"	""	""	""	"COL3A1(NM_000090.4):c.739C>A (p.P247T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974811"	"0"	"50"	"2"	"189855040"	"189855040"	"subst"	"8.15694E-6"	"02329"	"COL3A1_001027"	"g.189855040A>G"	""	""	""	"COL3A1(NM_000090.4):c.752A>G (p.K251R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974812"	"0"	"30"	"2"	"189855843"	"189855843"	"subst"	"0"	"02329"	"COL3A1_001028"	"g.189855843A>G"	""	""	""	"COL3A1(NM_000090.4):c.852+60A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000974813"	"0"	"30"	"2"	"189859432"	"189859432"	"subst"	"0"	"02326"	"COL3A1_001029"	"g.189859432A>G"	""	""	""	"COL3A1(NM_000090.3):c.1348-18A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000974814"	"0"	"30"	"2"	"189861053"	"189861054"	"del"	"0"	"01804"	"COL3A1_001030"	"g.189861053_189861054del"	""	""	""	"COL3A1(NM_000090.4):c.1663-71_1663-70del"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000974815"	"0"	"50"	"2"	"189861916"	"189861916"	"subst"	"2.03145E-5"	"01804"	"COL3A1_001031"	"g.189861916G>A"	""	""	""	"COL3A1(NM_000090.4):c.1787G>A (p.(Arg596Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974816"	"0"	"90"	"2"	"189861919"	"189861919"	"subst"	"0"	"02329"	"COL3A1_001032"	"g.189861919G>A"	""	""	""	"COL3A1(NM_000090.4):c.1790G>A (p.G597D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000974817"	"0"	"30"	"2"	"189866927"	"189866927"	"subst"	"0"	"02329"	"COL3A1_001033"	"g.189866927T>G"	""	""	""	"COL3A1(NM_000090.4):c.2392-97T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000974818"	"0"	"50"	"2"	"189868170"	"189868170"	"subst"	"8.12565E-6"	"01804"	"COL3A1_001034"	"g.189868170C>T"	""	""	""	"COL3A1(NM_000090.4):c.2587C>T (p.(Arg863Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974819"	"0"	"50"	"2"	"189875414"	"189875414"	"subst"	"0"	"01804"	"COL3A1_001035"	"g.189875414A>G"	""	""	""	"COL3A1(NM_000090.4):c.4052A>G (p.(Asp1351Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974820"	"0"	"50"	"2"	"189875450"	"189875450"	"subst"	"0"	"01804"	"COL3A1_001036"	"g.189875450G>A"	""	""	""	"COL3A1(NM_000090.4):c.4088G>A (p.(Arg1363Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974821"	"0"	"50"	"2"	"189876439"	"189876439"	"subst"	"0"	"02329"	"COL3A1_001037"	"g.189876439A>C"	""	""	""	"COL3A1(NM_000090.4):c.4340A>C (p.Y1447S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974822"	"0"	"50"	"2"	"189876493"	"189876493"	"subst"	"0"	"01804"	"COL3A1_001038"	"g.189876493T>G"	""	""	""	"COL3A1(NM_000090.4):c.4394T>G (p.(Phe1465Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000989384"	"0"	"70"	"2"	"189860410"	"189860410"	"subst"	"0"	"03779"	"COL3A1_001040"	"g.189860410C>T"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000989396"	"0"	"79"	"2"	"189862072"	"189862072"	"subst"	"0"	"04693"	"COL3A1_001039"	"g.189862072G>T"	""	"{PMID:Akutsu 2024:39007042}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.188997346G>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000992295"	"0"	"30"	"2"	"189856381"	"189856381"	"subst"	"1.21904E-5"	"02329"	"COL3A1_000826"	"g.189856381A>G"	""	""	""	"COL3A1(NM_000090.3):c.898-14A>G, COL3A1(NM_000090.4):c.898-14A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000992296"	"0"	"30"	"2"	"189856457"	"189856457"	"subst"	"0"	"02329"	"COL3A1_001041"	"g.189856457A>G"	""	""	""	"COL3A1(NM_000090.4):c.951+9A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000992297"	"0"	"90"	"2"	"189857640"	"189857640"	"subst"	"0"	"02329"	"COL3A1_001042"	"g.189857640G>A"	""	""	""	"COL3A1(NM_000090.4):c.1024G>A (p.G342R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000992298"	"0"	"90"	"2"	"189860860"	"189860860"	"subst"	"0"	"02326"	"COL3A1_000040"	"g.189860860G>A"	""	""	""	"COL3A1(NM_000090.3):c.1618G>A (p.G540R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000992299"	"0"	"30"	"2"	"189861949"	"189861949"	"subst"	"0.000588986"	"01804"	"COL3A1_000277"	"g.189861949G>A"	""	""	""	"COL3A1(NM_000090.3):c.1815+5G>A (p.?), COL3A1(NM_000090.4):c.1815+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000992300"	"0"	"70"	"2"	"189868515"	"189868515"	"subst"	"0"	"01804"	"COL3A1_001043"	"g.189868515T>A"	""	""	""	"COL3A1(NM_000090.3):c.2661+2T>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000992301"	"0"	"30"	"2"	"189869003"	"189869003"	"subst"	"0"	"02329"	"COL3A1_001044"	"g.189869003G>A"	""	""	""	"COL3A1(NM_000090.4):c.2844G>A (p.G948=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000992302"	"0"	"90"	"2"	"189872295"	"189872295"	"subst"	"0"	"02326"	"COL3A1_000553"	"g.189872295C>T"	""	""	""	"COL3A1(NM_000090.3):c.3325C>T (p.R1109*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000992303"	"0"	"30"	"2"	"189872988"	"189872988"	"subst"	"0"	"02329"	"COL3A1_001045"	"g.189872988A>G"	""	""	""	"COL3A1(NM_000090.4):c.3525+120A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000992304"	"0"	"30"	"2"	"189875018"	"189875018"	"subst"	"0.000804192"	"01804"	"COL3A1_000231"	"g.189875018A>G"	""	""	""	"COL3A1(NM_000090.3):c.3938A>G (p.K1313R, p.(Lys1313Arg)), COL3A1(NM_000090.4):c.3938A>G (p.K1313R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000992305"	"0"	"50"	"2"	"189875405"	"189875405"	"subst"	"0"	"02325"	"COL3A1_001046"	"g.189875405A>C"	""	""	""	"COL3A1(NM_000090.4):c.4043A>C (p.D1348A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000992306"	"0"	"50"	"2"	"189875446"	"189875446"	"subst"	"0"	"01804"	"COL3A1_001047"	"g.189875446A>C"	""	""	""	"COL3A1(NM_000090.3):c.4084A>C (p.(Ser1362Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000992307"	"0"	"30"	"2"	"189875577"	"189875577"	"subst"	"0"	"02329"	"COL3A1_001048"	"g.189875577T>C"	""	""	""	"COL3A1(NM_000090.4):c.4215T>C (p.N1405=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000992308"	"0"	"50"	"2"	"189876400"	"189876400"	"subst"	"3.2509E-5"	"01804"	"COL3A1_001049"	"g.189876400G>A"	""	""	""	"COL3A1(NM_000090.3):c.4301G>A (p.(Arg1434His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001010101"	"0"	"79"	"2"	"189876422"	"189876428"	"delins"	"0"	"04746"	"COL3A1_001050"	"g.189876422_189876428delinsGAC"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001010339"	"21"	"79"	"2"	"189870951"	"189870951"	"subst"	"0"	"04746"	"COL3A1_000722"	"g.189870951G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001011383"	"21"	"79"	"2"	"189864269"	"189864269"	"subst"	"0"	"04746"	"COL3A1_000219"	"g.189864269G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001011384"	"21"	"79"	"2"	"189852843"	"189852843"	"subst"	"0"	"04746"	"COL3A1_001051"	"g.189852843G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0001011385"	"21"	"79"	"2"	"189866280"	"189866280"	"subst"	"0"	"04746"	"COL3A1_000062"	"g.189866280G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001011386"	"0"	"79"	"2"	"189858970"	"189858970"	"subst"	"0"	"04746"	"COL3A1_001055"	"g.189858970G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0001011387"	"0"	"79"	"2"	"189872254"	"189872254"	"subst"	"0"	"04746"	"COL3A1_000550"	"g.189872254G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001011388"	"21"	"77"	"2"	"189852861"	"189852861"	"subst"	"0"	"04746"	"COL3A1_000944"	"g.189852861G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001011389"	"0"	"77"	"2"	"189866178"	"189866182"	"del"	"0"	"04746"	"COL3A1_001058"	"g.189866178_189866182del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0001011410"	"0"	"79"	"2"	"189868862"	"189868862"	"subst"	"0"	"04746"	"COL3A1_000083"	"g.189868862G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001011412"	"0"	"79"	"2"	"189875612"	"189875612"	"subst"	"0"	"04746"	"COL3A1_001061"	"g.189875612G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0001011413"	"11"	"79"	"2"	"189864056"	"189864056"	"subst"	"0"	"04746"	"COL3A1_000474"	"g.189864056G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001011416"	"0"	"79"	"2"	"189868735"	"189868735"	"subst"	"4.08814E-6"	"04746"	"COL3A1_000857"	"g.189868735G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0001011418"	"11"	"79"	"2"	"189857614"	"189857614"	"subst"	"0"	"04746"	"COL3A1_000418"	"g.189857614G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001011420"	"21"	"79"	"2"	"189864286"	"189864286"	"subst"	"0"	"04746"	"COL3A1_001057"	"g.189864286G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0001011422"	"21"	"79"	"2"	"189856422"	"189856422"	"subst"	"0"	"04746"	"COL3A1_001054"	"g.189856422G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0001011424"	"21"	"79"	"2"	"189854141"	"189854141"	"subst"	"0"	"04746"	"COL3A1_000390"	"g.189854141G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001011426"	"21"	"79"	"2"	"189863037"	"189863037"	"subst"	"0"	"04746"	"COL3A1_001056"	"g.189863037G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0001011514"	"11"	"79"	"2"	"189864032"	"189864032"	"subst"	"0"	"04746"	"COL3A1_000632"	"g.189864032G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001011515"	"11"	"77"	"2"	"189867790"	"189867790"	"subst"	"0"	"04746"	"COL3A1_001059"	"g.189867790T>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001011516"	"21"	"77"	"2"	"189856393"	"189856393"	"subst"	"0"	"04746"	"COL3A1_001053"	"g.189856393A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001011517"	"21"	"79"	"2"	"189852852"	"189852852"	"subst"	"0"	"04746"	"COL3A1_001052"	"g.189852852G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001011518"	"0"	"77"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"04746"	"COL3A1_000147"	"g.189860905G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001011519"	"21"	"77"	"2"	"189876393"	"189876393"	"subst"	"0"	"04746"	"COL3A1_000124"	"g.189876393C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0001011520"	"11"	"79"	"2"	"189867042"	"189867042"	"subst"	"0"	"04746"	"COL3A1_000064"	"g.189867042G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001011521"	"0"	"79"	"2"	"189872254"	"189872254"	"subst"	"0"	"04746"	"COL3A1_001060"	"g.189872254G>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0001013586"	"0"	"30"	"2"	"189849631"	"189849631"	"subst"	"4.07505E-6"	"02329"	"COL3A1_001062"	"g.189849631C>A"	""	""	""	"COL3A1(NM_000090.4):c.225C>A (p.P75=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001013587"	"0"	"50"	"2"	"189859029"	"189859029"	"subst"	"0"	"02329"	"COL3A1_001063"	"g.189859029A>G"	""	""	""	"COL3A1(NM_000090.4):c.1264A>G (p.N422D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001013588"	"0"	"50"	"2"	"189860434"	"189860434"	"subst"	"3.77867E-5"	"02326"	"COL3A1_001064"	"g.189860434G>A"	""	""	""	"COL3A1(NM_000090.3):c.1526G>A (p.R509H), COL3A1(NM_000090.4):c.1526G>A (p.R509H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001013589"	"0"	"50"	"2"	"189860434"	"189860434"	"subst"	"3.77867E-5"	"02329"	"COL3A1_001064"	"g.189860434G>A"	""	""	""	"COL3A1(NM_000090.3):c.1526G>A (p.R509H), COL3A1(NM_000090.4):c.1526G>A (p.R509H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001013590"	"0"	"90"	"2"	"189866280"	"189866280"	"subst"	"0"	"02327"	"COL3A1_000062"	"g.189866280G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001013591"	"0"	"50"	"2"	"189875497"	"189875497"	"subst"	"0"	"02327"	"COL3A1_001065"	"g.189875497A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001013592"	"0"	"50"	"2"	"189875560"	"189875560"	"subst"	"4.06286E-6"	"02325"	"COL3A1_001066"	"g.189875560T>C"	""	""	""	"COL3A1(NM_000090.4):c.4198T>C (p.F1400L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001013593"	"0"	"50"	"2"	"189875560"	"189875560"	"subst"	"4.06286E-6"	"02329"	"COL3A1_001066"	"g.189875560T>C"	""	""	""	"COL3A1(NM_000090.4):c.4198T>C (p.F1400L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001017851"	"0"	"79"	"2"	"189864268"	"189864268"	"subst"	"0"	"04746"	"COL3A1_000266"	"g.189864268G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001017852"	"21"	"79"	"2"	"189872869"	"189872869"	"subst"	"0"	"04746"	"COL3A1_000638"	"g.189872869G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001017853"	"11"	"79"	"2"	"189859277"	"189859277"	"subst"	"0"	"04746"	"COL3A1_000339"	"g.189859277G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001017854"	"21"	"79"	"2"	"189859451"	"189859451"	"subst"	"0"	"04746"	"COL3A1_000666"	"g.189859451G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001017855"	"0"	"79"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"04746"	"COL3A1_000147"	"g.189860905G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001017856"	"0"	"79"	"2"	"189864268"	"189864268"	"subst"	"0"	"04746"	"COL3A1_000266"	"g.189864268G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001017857"	"0"	"79"	"2"	"189853362"	"189853362"	"subst"	"0"	"04746"	"COL3A1_000011"	"g.189853362G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001017858"	"11"	"79"	"2"	"189873760"	"189873761"	"delins"	"0"	"04746"	"COL3A1_001075"	"g.189873760_189873761delinsC"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001017859"	"0"	"79"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"04746"	"COL3A1_000147"	"g.189860905G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001017860"	"21"	"79"	"2"	"189852843"	"189852843"	"subst"	"0"	"04746"	"COL3A1_001070"	"g.189852843G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0001017861"	"11"	"79"	"2"	"189864032"	"189864032"	"subst"	"0"	"04746"	"COL3A1_000632"	"g.189864032G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001017862"	"0"	"79"	"2"	"189868147"	"189868147"	"subst"	"0"	"04746"	"COL3A1_000215"	"g.189868147G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001017863"	"11"	"77"	"2"	"189859322"	"189859322"	"dup"	"0"	"04746"	"COL3A1_001071"	"g.189859322dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0001017864"	"21"	"79"	"2"	"189872729"	"189873694"	"del"	"0"	"04746"	"COL3A1_001074"	"g.189872729_189873694del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001017866"	"21"	"79"	"2"	"189861205"	"189861205"	"subst"	"0"	"04746"	"COL3A1_000044"	"g.189861205G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001017867"	"21"	"79"	"2"	"189871682"	"189871682"	"subst"	"0"	"04746"	"COL3A1_001073"	"g.189871682G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001017868"	"21"	"79"	"2"	"189856928"	"189856928"	"subst"	"0"	"04746"	"COL3A1_000030"	"g.189856928G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001017869"	"11"	"79"	"2"	"189867789"	"189867789"	"subst"	"0"	"04746"	"COL3A1_000318"	"g.189867789G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001017870"	"21"	"79"	"2"	"189868844"	"189868844"	"subst"	"0"	"04746"	"COL3A1_001072"	"g.189868844G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0001017871"	"0"	"79"	"2"	"189852826"	"189852826"	"subst"	"0"	"04746"	"COL3A1_000001"	"g.189852826G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001017872"	"21"	"79"	"2"	"189003410"	"189003788"	"del"	"0"	"04746"	"COL3A1_001069"	"g.(189003063_189003410)_(189003788_189003981)del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001017896"	"0"	"99"	"2"	"189852825"	"189852825"	"subst"	"0"	"02544"	"COL3A1_000006"	"g.189852825G>A"	""	""	""	""	""	"Not applicable"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0001017897"	"0"	"99"	"2"	"189860445"	"189860445"	"subst"	"0"	"02544"	"COL3A1_001067"	"g.189860445G>A"	""	""	""	""	""	"Not applicable"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0001017898"	"0"	"99"	"2"	"189862108"	"189862108"	"subst"	"0"	"02544"	"COL3A1_000456"	"g.189862108G>A"	""	""	""	""	""	"Not applicable"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0001017899"	"0"	"99"	"2"	"189863409"	"189863409"	"subst"	"0"	"02544"	"COL3A1_001068"	"g.189863409G>A"	""	""	""	""	""	"Not applicable"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0001017900"	"0"	"97"	"2"	"189867082"	"189867082"	"subst"	"0"	"02544"	"COL3A1_000910"	"g.189867082G>C"	""	""	""	""	""	"Not applicable"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0001017901"	"0"	"99"	"2"	"189868772"	"189868772"	"subst"	"0"	"02544"	"COL3A1_000074"	"g.189868772G>A"	""	""	""	""	""	"Not applicable"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0001017902"	"0"	"99"	"2"	"189868826"	"189868826"	"subst"	"0"	"02544"	"COL3A1_000511"	"g.189868826G>A"	""	""	""	""	""	"Not applicable"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0001017903"	"0"	"99"	"2"	"189873696"	"189873696"	"subst"	"0"	"02544"	"COL3A1_000576"	"g.189873696G>A"	""	""	""	""	""	"Not applicable"	""	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0001017926"	"11"	"79"	"2"	"189855767"	"189855767"	"subst"	"0"	"04746"	"COL3A1_000261"	"g.189855767G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001017927"	"0"	"79"	"2"	"189864287"	"189864287"	"subst"	"0"	"04746"	"COL3A1_000058"	"g.189864287G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001019128"	"0"	"30"	"2"	"189859318"	"189859318"	"subst"	"0"	"03779"	"COL3A1_000916"	"g.189859318C>T"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs1186071837"	"0"	""	""	""	""	"likely benign"	""
"0001021362"	"1"	"90"	"2"	"189861123"	"189866177"	"del"	"0"	"00006"	"COL3A1_001076"	"g.(189860905_189861123)_(189866177_189866261)del"	""	"{PMID:Yamaguchi 2023:36189931}"	""	"del ex24-33"	"ACMG PVS1_strong, PS3, PM2_sup"	"Germline"	""	""	"0"	""	""	"g.(188996179_188996397)_(189001451_189001535)del"	""	"pathogenic (dominant)"	""
"0001022208"	"0"	"50"	"2"	"189858189"	"189858189"	"subst"	"0"	"04796"	"COL3A1_001077"	"g.189858189A>G"	""	""	""	""	"effect on RNA exon skipping"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188993463A>G"	""	"VUS"	""
"0001022215"	"0"	"70"	"2"	"189859449"	"189859449"	"subst"	"0"	"04796"	"COL3A1_001078"	"g.189859449G>T"	""	""	""	""	"effect on RNA exclusion of exon"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.188994723G>T"	""	"likely pathogenic"	""
"0001024443"	"0"	"30"	"2"	"189856375"	"189856375"	"subst"	"8.12658E-6"	"02329"	"COL3A1_001079"	"g.189856375A>G"	""	""	""	"COL3A1(NM_000090.4):c.898-20A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001024444"	"0"	"30"	"2"	"189858074"	"189858074"	"subst"	"0.000235198"	"02329"	"COL3A1_001080"	"g.189858074G>A"	""	""	""	"COL3A1(NM_000090.4):c.1051-13G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001024445"	"0"	"30"	"2"	"189858744"	"189858744"	"subst"	"1.22148E-5"	"02329"	"COL3A1_001081"	"g.189858744T>C"	""	""	""	"COL3A1(NM_000090.4):c.1150-20T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001024446"	"0"	"30"	"2"	"189860458"	"189860458"	"subst"	"0.00017034"	"02329"	"COL3A1_000269"	"g.189860458C>T"	""	""	""	"COL3A1(NM_000090.3):c.1550C>T (p.P517L), COL3A1(NM_000090.4):c.1550C>T (p.P517L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001024447"	"0"	"30"	"2"	"189860528"	"189860528"	"subst"	"0"	"02329"	"COL3A1_001082"	"g.189860528C>T"	""	""	""	"COL3A1(NM_000090.4):c.1608+12C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001024448"	"0"	"90"	"2"	"189860905"	"189860905"	"subst"	"4.06326E-6"	"02329"	"COL3A1_000147"	"g.189860905G>A"	""	""	""	"COL3A1(NM_000090.4):c.1662+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001024449"	"0"	"30"	"2"	"189861933"	"189861933"	"subst"	"0.00451226"	"02329"	"COL3A1_000197"	"g.189861933C>A"	""	""	""	"COL3A1(NM_000090.3):c.1804C>A (p.P602T), COL3A1(NM_000090.4):c.1804C>A (p.P602T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001024450"	"0"	"90"	"2"	"189862063"	"189862063"	"subst"	"0"	"02329"	"COL3A1_001083"	"g.189862063G>A"	""	""	""	"COL3A1(NM_000090.4):c.1817G>A (p.G606D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001024451"	"0"	"30"	"2"	"189864023"	"189864023"	"subst"	"0.00552585"	"02329"	"COL3A1_000187"	"g.189864023G>A"	""	""	""	"COL3A1(NM_000090.3):c.2035G>A (p.A679T), COL3A1(NM_000090.4):c.2035G>A (p.A679T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001024452"	"0"	"30"	"2"	"189864537"	"189864537"	"subst"	"0.000147124"	"02329"	"COL3A1_001084"	"g.189864537G>A"	""	""	""	"COL3A1(NM_000090.4):c.2230-31G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001024453"	"0"	"30"	"2"	"189872887"	"189872887"	"del"	"0.00989825"	"02329"	"COL3A1_001085"	"g.189872887del"	""	""	""	"COL3A1(NM_000090.4):c.3525+19delG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001024454"	"0"	"50"	"2"	"189875018"	"189875018"	"subst"	"0.000804192"	"02325"	"COL3A1_000231"	"g.189875018A>G"	""	""	""	"COL3A1(NM_000090.3):c.3938A>G (p.K1313R, p.(Lys1313Arg)), COL3A1(NM_000090.4):c.3938A>G (p.K1313R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001024455"	"0"	"30"	"2"	"189875018"	"189875018"	"subst"	"0.000804192"	"02329"	"COL3A1_000231"	"g.189875018A>G"	""	""	""	"COL3A1(NM_000090.3):c.3938A>G (p.K1313R, p.(Lys1313Arg)), COL3A1(NM_000090.4):c.3938A>G (p.K1313R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001024456"	"0"	"50"	"2"	"189876418"	"189876418"	"subst"	"0"	"02325"	"COL3A1_000625"	"g.189876418C>T"	""	""	""	"COL3A1(NM_000090.4):c.4319C>T (p.P1440L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001029697"	"0"	"50"	"2"	"189856228"	"189856228"	"subst"	"0"	"03779"	"COL3A1_001086"	"g.189856228C>T"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs1688187768"	"0"	""	""	""	""	"VUS"	""
"0001032851"	"0"	"30"	"2"	"189849536"	"189849536"	"subst"	"0.000297086"	"02329"	"COL3A1_000587"	"g.189849536G>A"	""	""	""	"COL3A1(NM_000090.4):c.130G>A (p.V44I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001032852"	"0"	"30"	"2"	"189855035"	"189855035"	"subst"	"0"	"02329"	"COL3A1_001087"	"g.189855035T>C"	""	""	""	"COL3A1(NM_000090.4):c.747T>C (p.G249=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001032853"	"0"	"50"	"2"	"189855040"	"189855040"	"subst"	"8.15694E-6"	"02325"	"COL3A1_001027"	"g.189855040A>G"	""	""	""	"COL3A1(NM_000090.4):c.752A>G (p.K251R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032854"	"0"	"50"	"2"	"189856917"	"189856917"	"subst"	"2.03098E-5"	"02329"	"COL3A1_001088"	"g.189856917G>A"	""	""	""	"COL3A1(NM_000090.4):c.959G>A (p.R320Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032855"	"0"	"50"	"2"	"189859002"	"189859002"	"subst"	"0"	"01804"	"COL3A1_001089"	"g.189859002C>T"	""	""	""	"COL3A1(NM_000090.4):c.1237C>T (p.(Arg413Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032856"	"0"	"50"	"2"	"189860421"	"189860421"	"subst"	"1.30305E-5"	"01804"	"COL3A1_001090"	"g.189860421C>T"	""	""	""	"COL3A1(NM_000090.4):c.1513C>T (p.(Pro505Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032857"	"0"	"90"	"2"	"189862063"	"189862063"	"subst"	"0"	"02329"	"COL3A1_001091"	"g.189862063G>T"	""	""	""	"COL3A1(NM_000090.4):c.1817G>T (p.G606V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001032858"	"0"	"30"	"2"	"189866279"	"189866279"	"subst"	"0.000276151"	"01804"	"COL3A1_001092"	"g.189866279C>G"	""	""	""	"COL3A1(NM_000090.4):c.2355C>G (p.(Pro785=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001032859"	"0"	"50"	"2"	"189868769"	"189868769"	"subst"	"5.29937E-5"	"01804"	"COL3A1_000941"	"g.189868769C>T"	""	""	""	"COL3A1(NM_000090.3):c.2723C>T (p.A908V), COL3A1(NM_000090.4):c.2723C>T (p.(Ala908Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032860"	"0"	"90"	"2"	"189870103"	"189870103"	"subst"	"0"	"02327"	"COL3A1_000327"	"g.189870103G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001032861"	"0"	"50"	"2"	"189875435"	"189875435"	"subst"	"1.21969E-5"	"01804"	"COL3A1_001093"	"g.189875435G>A"	""	""	""	"COL3A1(NM_000090.4):c.4073G>A (p.(Arg1358Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032862"	"0"	"50"	"2"	"189876399"	"189876399"	"subst"	"3.65702E-5"	"02329"	"COL3A1_001094"	"g.189876399C>T"	""	""	""	"COL3A1(NM_000090.4):c.4300C>T (p.R1434C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001045791"	"0"	"50"	"2"	"189855064"	"189855064"	"subst"	"0"	"02327"	"COL3A1_000811"	"g.189855064T>C"	""	""	""	"COL3A1(NM_000090.3):c.776T>C (p.(Phe259Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001045792"	"0"	"50"	"2"	"189859788"	"189859788"	"subst"	"1.21909E-5"	"02325"	"COL3A1_000655"	"g.189859788G>A"	""	""	""	"COL3A1(NM_000090.4):c.1472G>A (p.R491Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001046982"	"0"	"50"	"2"	"189867075"	"189867075"	"subst"	"0"	"03779"	"COL3A1_001095"	"g.189867075C>T"	""	""	""	""	""	"Unknown"	""	"rs1688486356"	"0"	""	""	""	""	"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 COL3A1
## Count = 1810
"{{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}}"	"{{VariantOnTranscript/Variant/Type}}"	"{{VariantOnTranscript/Consequence/Predicted}}"	"{{VariantOnTranscript/Protein/Legacy}}"
"0000079628"	"00005458"	"90"	"3823"	"1"	"3823"	"1"	"c.3823+1G>A"	"r.spl"	"p.?"	"49i"	""	""	""
"0000130533"	"00005458"	"70"	"754"	"0"	"754"	"0"	"c.754G>A"	"r.(?)"	"p.(Gly252Ser)"	"11"	""	""	""
"0000169355"	"00005458"	"00"	"217"	"0"	"217"	"0"	"c.217G>C"	"r.(?)"	"p.(Asp73His)"	""	""	""	""
"0000249968"	"00005458"	"30"	"1854"	"0"	"1854"	"0"	"c.1854A>T"	"r.(?)"	"p.(Gly618=)"	""	""	""	""
"0000250138"	"00005458"	"10"	"3613"	"0"	"3613"	"0"	"c.3613A>G"	"r.(?)"	"p.(Ile1205Val)"	""	""	""	""
"0000250190"	"00005458"	"10"	"1815"	"18"	"1815"	"18"	"c.1815+18A>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000252061"	"00005458"	"30"	"1509"	"5"	"1509"	"5"	"c.1509+5A>G"	"r.spl?"	"p.?"	""	""	""	""
"0000252754"	"00005458"	"50"	"1165"	"0"	"1165"	"0"	"c.1165A>T"	"r.(?)"	"p.(Asn389Tyr)"	""	""	""	""
"0000254059"	"00005458"	"30"	"1854"	"0"	"1854"	"0"	"c.1854A>T"	"r.(?)"	"p.(Gly618=)"	""	""	""	""
"0000254370"	"00005458"	"30"	"87"	"0"	"87"	"0"	"c.87A>C"	"r.(?)"	"p.(Glu29Asp)"	""	""	""	""
"0000254429"	"00005458"	"30"	"936"	"0"	"936"	"0"	"c.936A>G"	"r.(?)"	"p.(Gly312=)"	""	""	""	""
"0000254441"	"00005458"	"30"	"2052"	"0"	"2052"	"0"	"c.2052A>G"	"r.(?)"	"p.(Gly684=)"	""	""	""	""
"0000254953"	"00005458"	"30"	"2085"	"0"	"2085"	"0"	"c.2085A>G"	"r.(?)"	"p.(Arg695=)"	""	""	""	""
"0000256696"	"00005458"	"50"	"898"	"-14"	"898"	"-14"	"c.898-14A>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000266943"	"00005458"	"10"	"1978"	"-11"	"1978"	"-11"	"c.1978-11C>T"	"r.(=)"	"p.(=)"	""	""	""	""
"0000266944"	"00005458"	"10"	"4059"	"0"	"4059"	"0"	"c.4059="	"r.(=)"	"p.(Gln1353=)"	""	""	""	""
"0000268339"	"00005458"	"30"	"114"	"0"	"114"	"0"	"c.114C>G"	"r.(?)"	"p.(Ser38=)"	""	""	""	""
"0000268340"	"00005458"	"90"	"1196"	"0"	"1196"	"0"	"c.1196G>A"	"r.(?)"	"p.(Gly399Asp)"	""	""	""	""
"0000268341"	"00005458"	"10"	"1257"	"0"	"1257"	"0"	"c.1257C>T"	"r.(?)"	"p.(Ala419=)"	""	""	""	""
"0000268342"	"00005458"	"10"	"1293"	"15"	"1293"	"15"	"c.1293+15T>A"	"r.(=)"	"p.(=)"	""	""	""	""
"0000268343"	"00005458"	"10"	"1348"	"-4"	"1348"	"-4"	"c.1348-4del"	"r.spl?"	"p.?"	""	""	""	""
"0000268344"	"00005458"	"50"	"1450"	"0"	"1450"	"0"	"c.1450G>A"	"r.(?)"	"p.(Glu484Lys)"	""	""	""	""
"0000268345"	"00005458"	"10"	"1659"	"0"	"1659"	"0"	"c.1659T>A"	"r.(?)"	"p.(Pro553=)"	""	""	""	""
"0000268346"	"00005458"	"10"	"1770"	"0"	"1770"	"0"	"c.1770T>C"	"r.(?)"	"p.(Pro590=)"	""	""	""	""
"0000268347"	"00005458"	"10"	"1816"	"-14"	"1816"	"-14"	"c.1816-14G>C"	"r.(=)"	"p.(=)"	""	""	""	""
"0000268348"	"00005458"	"10"	"1816"	"-19"	"1816"	"-19"	"c.1816-19T>C"	"r.(=)"	"p.(=)"	""	""	""	""
"0000268349"	"00005458"	"10"	"1851"	"0"	"1851"	"0"	"c.1851G>A"	"r.(?)"	"p.(Gln617=)"	""	""	""	""
"0000268350"	"00005458"	"30"	"186"	"0"	"186"	"0"	"c.186C>T"	"r.(?)"	"p.(Cys62=)"	""	""	""	""
"0000268351"	"00005458"	"90"	"1870"	"0"	"1870"	"0"	"c.1870G>T"	"r.(?)"	"p.(Gly624Trp)"	""	""	""	""
"0000268352"	"00005458"	"10"	"1927"	"0"	"1927"	"0"	"c.1927T>C"	"r.(?)"	"p.(Leu643=)"	""	""	""	""
"0000268353"	"00005458"	"10"	"1978"	"-11"	"1978"	"-11"	"c.1978-11C>T"	"r.(=)"	"p.(=)"	""	""	""	""
"0000268354"	"00005458"	"10"	"2002"	"0"	"2002"	"0"	"c.2002C>T"	"r.(?)"	"p.(Pro668Ser)"	""	""	""	""
"0000268355"	"00005458"	"10"	"2022"	"5"	"2022"	"5"	"c.2022+5T>C"	"r.spl?"	"p.?"	""	""	""	""
"0000268356"	"00005458"	"30"	"2133"	"0"	"2133"	"0"	"c.2133T>G"	"r.(?)"	"p.(Gly711=)"	""	""	""	""
"0000268357"	"00005458"	"10"	"2244"	"0"	"2244"	"0"	"c.2244T>C"	"r.(?)"	"p.(Gly748=)"	""	""	""	""
"0000268358"	"00005458"	"30"	"2712"	"0"	"2712"	"0"	"c.2712C>T"	"r.(?)"	"p.(Pro904=)"	""	""	""	""
"0000268359"	"00005458"	"90"	"2869"	"0"	"2869"	"0"	"c.2869G>A"	"r.(?)"	"p.(Gly957Ser)"	""	""	""	""
"0000268360"	"00005458"	"10"	"3039"	"16"	"3039"	"16"	"c.3039+16T>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000268361"	"00005458"	"90"	"3157"	"0"	"3157"	"0"	"c.3157G>A"	"r.(?)"	"p.(Gly1053Ser)"	""	""	""	""
"0000268362"	"00005458"	"30"	"3364"	"-8"	"3364"	"-8"	"c.3364-8C>T"	"r.(=)"	"p.(=)"	""	""	""	""
"0000268363"	"00005458"	"90"	"3446"	"0"	"3446"	"0"	"c.3446G>A"	"r.(?)"	"p.(Gly1149Asp)"	""	""	""	""
"0000268364"	"00005458"	"10"	"3654"	"0"	"3654"	"0"	"c.3654G>T"	"r.(?)"	"p.(Pro1218=)"	""	""	""	""
"0000268365"	"00005458"	"30"	"3777"	"0"	"3777"	"0"	"c.3777T>C"	"r.(?)"	"p.(Ala1259=)"	""	""	""	""
"0000268366"	"00005458"	"10"	"4059"	"0"	"4059"	"0"	"c.4059="	"r.(=)"	"p.(Gln1353=)"	""	""	""	""
"0000268367"	"00005458"	"30"	"4176"	"0"	"4176"	"0"	"c.4176G>A"	"r.(?)"	"p.(Leu1392=)"	""	""	""	""
"0000268368"	"00005458"	"90"	"548"	"0"	"548"	"0"	"c.548G>A"	"r.(?)"	"p.(Gly183Asp)"	""	""	""	""
"0000268369"	"00005458"	"10"	"80"	"-16"	"80"	"-16"	"c.80-16C>T"	"r.(=)"	"p.(=)"	""	""	""	""
"0000268370"	"00005458"	"30"	"812"	"0"	"812"	"0"	"c.812G>A"	"r.(?)"	"p.(Arg271Gln)"	""	""	""	""
"0000268371"	"00005458"	"90"	"951"	"5"	"951"	"5"	"c.951+5G>T"	"r.spl?"	"p.?"	""	""	""	""
"0000268372"	"00005458"	"90"	"971"	"0"	"971"	"0"	"c.971G>A"	"r.(?)"	"p.(Gly324Asp)"	""	""	""	""
"0000270366"	"00005458"	"90"	"1034"	"0"	"1034"	"0"	"c.1034G>A"	"r.(?)"	"p.(Gly345Glu)"	""	""	""	""
"0000270367"	"00005458"	"30"	"1348"	"-4"	"1348"	"-4"	"c.1348-4del"	"r.spl?"	"p.?"	""	""	""	""
"0000270369"	"00005458"	"30"	"1348"	"-5"	"1348"	"-5"	"c.1348-5T>C"	"r.spl?"	"p.?"	""	""	""	""
"0000270370"	"00005458"	"30"	"1743"	"0"	"1743"	"0"	"c.1743C>T"	"r.(?)"	"p.(Pro581=)"	""	""	""	""
"0000270371"	"00005458"	"50"	"1787"	"0"	"1787"	"0"	"c.1787G>C"	"r.(?)"	"p.(Arg596Pro)"	""	""	""	""
"0000270372"	"00005458"	"30"	"1804"	"0"	"1804"	"0"	"c.1804C>A"	"r.(?)"	"p.(Pro602Thr)"	""	""	""	""
"0000270373"	"00005458"	"30"	"186"	"0"	"186"	"0"	"c.186C>T"	"r.(?)"	"p.(Cys62=)"	""	""	""	""
"0000270374"	"00005458"	"70"	"1904"	"0"	"1904"	"0"	"c.1904C>T"	"r.(?)"	"p.(Pro635Leu)"	""	""	""	""
"0000270375"	"00005458"	"10"	"2022"	"5"	"2022"	"5"	"c.2022+5T>C"	"r.spl?"	"p.?"	""	""	""	""
"0000270376"	"00005458"	"10"	"2035"	"0"	"2035"	"0"	"c.2035G>A"	"r.(?)"	"p.(Ala679Thr)"	""	""	""	""
"0000270377"	"00005458"	"30"	"2700"	"0"	"2700"	"0"	"c.2700C>T"	"r.(?)"	"p.(Gly900=)"	""	""	""	""
"0000270378"	"00005458"	"30"	"2824"	"-6"	"2824"	"-6"	"c.2824-6T>C"	"r.(=)"	"p.(=)"	""	""	""	""
"0000270379"	"00005458"	"10"	"3256"	"-28"	"3256"	"-28"	"c.3256-28G>A"	"r.(=)"	"p.(=)"	""	""	""	""
"0000270380"	"00005458"	"30"	"659"	"0"	"659"	"0"	"c.659C>T"	"r.(?)"	"p.(Ala220Val)"	""	""	""	""
"0000270381"	"00005458"	"30"	"812"	"0"	"812"	"0"	"c.812G>A"	"r.(?)"	"p.(Arg271Gln)"	""	""	""	""
"0000270382"	"00005458"	"70"	"980"	"0"	"980"	"0"	"c.980G>A"	"r.(?)"	"p.(Gly327Asp)"	""	""	""	""
"0000273975"	"00005458"	"30"	"114"	"0"	"114"	"0"	"c.114C>G"	"r.(?)"	"p.(Ser38=)"	""	""	""	""
"0000273976"	"00005458"	"90"	"1177"	"0"	"1177"	"0"	"c.1177G>C"	"r.(?)"	"p.(Gly393Arg)"	""	""	""	""
"0000273977"	"00005458"	"30"	"1188"	"0"	"1188"	"0"	"c.1188C>T"	"r.(?)"	"p.(Gly396=)"	""	""	""	""
"0000273978"	"00005458"	"30"	"1200"	"0"	"1200"	"0"	"c.1200C>T"	"r.(?)"	"p.(Pro400=)"	""	""	""	""
"0000273979"	"00005458"	"10"	"1293"	"15"	"1293"	"15"	"c.1293+15T>A"	"r.(=)"	"p.(=)"	""	""	""	""
"0000273980"	"00005458"	"90"	"1471"	"0"	"1471"	"0"	"c.1471C>T"	"r.(?)"	"p.(Arg491Ter)"	""	""	""	""
"0000273981"	"00005458"	"50"	"1550"	"0"	"1550"	"0"	"c.1550C>T"	"r.(?)"	"p.(Pro517Leu)"	""	""	""	""
"0000273982"	"00005458"	"10"	"1804"	"0"	"1804"	"0"	"c.1804C>A"	"r.(?)"	"p.(Pro602Thr)"	""	""	""	""
"0000273983"	"00005458"	"10"	"1816"	"-14"	"1816"	"-14"	"c.1816-14G>C"	"r.(=)"	"p.(=)"	""	""	""	""
"0000273984"	"00005458"	"10"	"1851"	"0"	"1851"	"0"	"c.1851G>A"	"r.(?)"	"p.(Gln617=)"	""	""	""	""
"0000273985"	"00005458"	"10"	"1978"	"-11"	"1978"	"-11"	"c.1978-11C>T"	"r.(=)"	"p.(=)"	""	""	""	""
"0000273986"	"00005458"	"10"	"2035"	"0"	"2035"	"0"	"c.2035G>A"	"r.(?)"	"p.(Ala679Thr)"	""	""	""	""
"0000273987"	"00005458"	"30"	"2056"	"0"	"2056"	"0"	"c.2056C>G"	"r.(?)"	"p.(Pro686Ala)"	""	""	""	""
"0000273988"	"00005458"	"50"	"217"	"0"	"217"	"0"	"c.217G>C"	"r.(?)"	"p.(Asp73His)"	""	""	""	""
"0000273989"	"00005458"	"10"	"2244"	"0"	"2244"	"0"	"c.2244T>C"	"r.(?)"	"p.(Gly748=)"	""	""	""	""
"0000273990"	"00005458"	"30"	"2490"	"0"	"2490"	"0"	"c.2490G>A"	"r.(?)"	"p.(Pro830=)"	""	""	""	""
"0000273991"	"00005458"	"10"	"2661"	"22"	"2661"	"22"	"c.2661+22T>C"	"r.(=)"	"p.(=)"	""	""	""	""
"0000273992"	"00005458"	"90"	"2689"	"0"	"2689"	"0"	"c.2689G>A"	"r.(?)"	"p.(Gly897Ser)"	""	""	""	""
"0000273993"	"00005458"	"30"	"2958"	"0"	"2958"	"0"	"c.2958C>T"	"r.(?)"	"p.(Asn986=)"	""	""	""	""
"0000273994"	"00005458"	"50"	"3118"	"0"	"3118"	"0"	"c.3118C>T"	"r.(?)"	"p.(Pro1040Ser)"	""	""	""	""
"0000273995"	"00005458"	"90"	"3158"	"0"	"3158"	"0"	"c.3158G>A"	"r.(?)"	"p.(Gly1053Asp)"	""	""	""	""
"0000273996"	"00005458"	"90"	"3181"	"0"	"3182"	"0"	"c.3181_3182del"	"r.(?)"	"p.(Ser1061TrpfsTer2)"	""	""	""	""
"0000273997"	"00005458"	"70"	"3391"	"0"	"3391"	"0"	"c.3391G>A"	"r.(?)"	"p.(Gly1131Ser)"	""	""	""	""
"0000273998"	"00005458"	"30"	"3777"	"0"	"3777"	"0"	"c.3777T>C"	"r.(?)"	"p.(Ala1259=)"	""	""	""	""
"0000273999"	"00005458"	"30"	"529"	"-124"	"529"	"-114"	"c.529-124_529-114del"	"r.(=)"	"p.(=)"	""	""	""	""
"0000274000"	"00005458"	"90"	"548"	"0"	"548"	"0"	"c.548G>T"	"r.(?)"	"p.(Gly183Val)"	""	""	""	""
"0000274001"	"00005458"	"10"	"583"	"-8"	"583"	"-8"	"c.583-8C>T"	"r.(=)"	"p.(=)"	""	""	""	""
"0000274002"	"00005458"	"30"	"80"	"-22"	"80"	"-22"	"c.80-22C>T"	"r.(=)"	"p.(=)"	""	""	""	""
"0000274003"	"00005458"	"30"	"812"	"0"	"812"	"0"	"c.812G>A"	"r.(?)"	"p.(Arg271Gln)"	""	""	""	""
"0000274004"	"00005458"	"70"	"996"	"5"	"996"	"5"	"c.996+5G>C"	"r.spl?"	"p.?"	""	""	""	""
"0000328013"	"00005458"	"50"	"922"	"0"	"922"	"0"	"c.922C>T"	"r.(?)"	"p.(Arg308Ter)"	""	""	""	""
"0000328014"	"00005458"	"50"	"2932"	"-8"	"2932"	"-8"	"c.2932-8G>C"	"r.(=)"	"p.(=)"	""	""	""	""
"0000328015"	"00005458"	"50"	"3530"	"0"	"3530"	"0"	"c.3530C>T"	"r.(?)"	"p.(Ser1177Phe)"	""	""	""	""
"0000347402"	"00005458"	"30"	"3938"	"0"	"3938"	"0"	"c.3938A>G"	"r.(?)"	"p.(Lys1313Arg)"	""	""	""	""
"0000347689"	"00005458"	"50"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.(Met1?)"	""	""	""	""
"0000348550"	"00005458"	"30"	"2002"	"0"	"2002"	"0"	"c.2002C>A"	"r.(?)"	"p.(Pro668Thr)"	""	""	""	""
"0000368372"	"00005458"	"55"	"1531"	"0"	"1531"	"0"	"c.1531G>A"	"r.(?)"	"p.(Ala511Thr)"	"23"	"substitution"	"missense"	""
"0000439891"	"00005458"	"50"	"3891"	"0"	"3891"	"0"	"c.3891A>T"	"r.(?)"	"p.Glu1297Asp"	""	""	""	""
"0000513667"	"00005458"	"30"	"114"	"0"	"114"	"0"	"c.114C>G"	"r.(?)"	"p.(Ser38=)"	""	""	""	""
"0000513668"	"00005458"	"90"	"318"	"0"	"325"	"0"	"c.318_325del"	"r.(?)"	"p.(Pro107ArgfsTer13)"	""	""	""	""
"0000513669"	"00005458"	"50"	"370"	"0"	"370"	"0"	"c.370G>C"	"r.(?)"	"p.(Gly124Arg)"	""	""	""	""
"0000513670"	"00005458"	"90"	"555"	"0"	"555"	"0"	"c.555del"	"r.(?)"	"p.(Gly186ValfsTer36)"	""	""	""	""
"0000513671"	"00005458"	"90"	"555"	"0"	"555"	"0"	"c.555del"	"r.(?)"	"p.(Gly186ValfsTer36)"	""	""	""	""
"0000513672"	"00005458"	"90"	"753"	"0"	"753"	"0"	"c.753del"	"r.(?)"	"p.(Gly252ValfsTer11)"	""	""	""	""
"0000513673"	"00005458"	"90"	"773"	"0"	"773"	"0"	"c.773G>T"	"r.(?)"	"p.(Gly258Val)"	""	""	""	""
"0000513674"	"00005458"	"30"	"812"	"0"	"812"	"0"	"c.812G>A"	"r.(?)"	"p.(Arg271Gln)"	""	""	""	""
"0000513675"	"00005458"	"50"	"821"	"0"	"821"	"0"	"c.821A>G"	"r.(?)"	"p.(Glu274Gly)"	""	""	""	""
"0000513676"	"00005458"	"30"	"879"	"0"	"879"	"0"	"c.879T>C"	"r.(?)"	"p.(Asn293=)"	""	""	""	""
"0000513677"	"00005458"	"50"	"1129"	"0"	"1129"	"0"	"c.1129G>A"	"r.(?)"	"p.(Ala377Thr)"	""	""	""	""
"0000513678"	"00005458"	"90"	"1150"	"0"	"1150"	"0"	"c.1150G>C"	"r.(?)"	"p.(Gly384Arg)"	""	""	""	""
"0000513679"	"00005458"	"90"	"1177"	"0"	"1177"	"0"	"c.1177G>C"	"r.(?)"	"p.(Gly393Arg)"	""	""	""	""
"0000513680"	"00005458"	"10"	"1348"	"-5"	"1348"	"-4"	"c.1348-5_1348-4del"	"r.spl?"	"p.?"	""	""	""	""
"0000513681"	"00005458"	"10"	"1348"	"-4"	"1348"	"-4"	"c.1348-4dup"	"r.spl?"	"p.?"	""	""	""	""
"0000513682"	"00005458"	"30"	"1456"	"-13"	"1456"	"-13"	"c.1456-13T>C"	"r.(=)"	"p.(=)"	""	""	""	""
"0000513683"	"00005458"	"50"	"1472"	"0"	"1472"	"0"	"c.1472G>A"	"r.(?)"	"p.(Arg491Gln)"	""	""	""	""
"0000513684"	"00005458"	"50"	"1685"	"0"	"1685"	"0"	"c.1685G>A"	"r.(?)"	"p.(Arg562Gln)"	""	""	""	""
"0000513685"	"00005458"	"90"	"1744"	"0"	"1744"	"0"	"c.1744G>A"	"r.(?)"	"p.(Gly582Ser)"	""	""	""	""
"0000513686"	"00005458"	"70"	"1771"	"0"	"1771"	"0"	"c.1771G>C"	"r.(?)"	"p.(Gly591Arg)"	""	""	""	""
"0000513687"	"00005458"	"30"	"1794"	"0"	"1794"	"0"	"c.1794C>T"	"r.(?)"	"p.(Gly598=)"	""	""	""	""
"0000513688"	"00005458"	"50"	"1815"	"3"	"1815"	"3"	"c.1815+3del"	"r.spl?"	"p.?"	""	""	""	""
"0000513689"	"00005458"	"50"	"1815"	"5"	"1815"	"5"	"c.1815+5G>A"	"r.spl?"	"p.?"	""	""	""	""
"0000513690"	"00005458"	"10"	"1815"	"5"	"1815"	"5"	"c.1815+5G>A"	"r.spl?"	"p.?"	""	""	""	""
"0000513691"	"00005458"	"30"	"1927"	"0"	"1927"	"0"	"c.1927T>C"	"r.(?)"	"p.(Leu643=)"	""	""	""	""
"0000513692"	"00005458"	"30"	"1977"	"10"	"1977"	"10"	"c.1977+10G>A"	"r.(=)"	"p.(=)"	""	""	""	""
"0000513693"	"00005458"	"30"	"1995"	"0"	"1995"	"0"	"c.1995C>T"	"r.(?)"	"p.(Ala665=)"	""	""	""	""
"0000513694"	"00005458"	"50"	"2002"	"0"	"2002"	"0"	"c.2002C>A"	"r.(?)"	"p.(Pro668Thr)"	""	""	""	""
"0000513695"	"00005458"	"30"	"2002"	"0"	"2002"	"0"	"c.2002C>A"	"r.(?)"	"p.(Pro668Thr)"	""	""	""	""
"0000513696"	"00005458"	"30"	"2002"	"0"	"2002"	"0"	"c.2002C>A"	"r.(?)"	"p.(Pro668Thr)"	""	""	""	""
"0000513697"	"00005458"	"30"	"2002"	"0"	"2002"	"0"	"c.2002C>T"	"r.(?)"	"p.(Pro668Ser)"	""	""	""	""
"0000513699"	"00005458"	"90"	"2050"	"0"	"2050"	"0"	"c.2050G>A"	"r.(?)"	"p.(Gly684Arg)"	""	""	""	""
"0000513700"	"00005458"	"10"	"2092"	"0"	"2092"	"0"	"c.2092G>A"	"r.(?)"	"p.(Ala698Thr)"	""	""	""	""
"0000513701"	"00005458"	"10"	"2092"	"0"	"2092"	"0"	"c.2092G>A"	"r.(?)"	"p.(Ala698Thr)"	""	""	""	""
"0000513702"	"00005458"	"10"	"2092"	"0"	"2092"	"0"	"c.2092G>A"	"r.(?)"	"p.(Ala698Thr)"	""	""	""	""
"0000513703"	"00005458"	"70"	"2231"	"0"	"2231"	"0"	"c.2231G>A"	"r.(?)"	"p.(Gly744Asp)"	""	""	""	""
"0000513704"	"00005458"	"30"	"2490"	"0"	"2490"	"0"	"c.2490G>A"	"r.(?)"	"p.(Pro830=)"	""	""	""	""
"0000513705"	"00005458"	"30"	"2496"	"0"	"2496"	"0"	"c.2496G>A"	"r.(?)"	"p.(Glu832=)"	""	""	""	""
"0000513706"	"00005458"	"50"	"2515"	"0"	"2515"	"0"	"c.2515C>T"	"r.(?)"	"p.(Pro839Ser)"	""	""	""	""
"0000513707"	"00005458"	"30"	"2522"	"0"	"2522"	"0"	"c.2522T>C"	"r.(?)"	"p.(Val841Ala)"	""	""	""	""
"0000513708"	"00005458"	"10"	"2661"	"22"	"2661"	"22"	"c.2661+22T>A"	"r.(=)"	"p.(=)"	""	""	""	""
"0000513709"	"00005458"	"50"	"2700"	"0"	"2700"	"0"	"c.2700C>T"	"r.(?)"	"p.(Gly900=)"	""	""	""	""
"0000513710"	"00005458"	"50"	"2866"	"0"	"2866"	"0"	"c.2866C>T"	"r.(?)"	"p.(Arg956Trp)"	""	""	""	""
"0000513711"	"00005458"	"50"	"2867"	"0"	"2867"	"0"	"c.2867G>A"	"r.(?)"	"p.(Arg956Gln)"	""	""	""	""
"0000513713"	"00005458"	"30"	"3133"	"0"	"3133"	"0"	"c.3133G>A"	"r.(?)"	"p.(Ala1045Thr)"	""	""	""	""
"0000513714"	"00005458"	"30"	"3133"	"0"	"3133"	"0"	"c.3133G>A"	"r.(?)"	"p.(Ala1045Thr)"	""	""	""	""
"0000513715"	"00005458"	"10"	"3133"	"0"	"3133"	"0"	"c.3133G>A"	"r.(?)"	"p.(Ala1045Thr)"	""	""	""	""
"0000513716"	"00005458"	"90"	"3219"	"0"	"3222"	"0"	"c.3219_3222dup"	"r.(?)"	"p.(Ala1075TrpfsTer20)"	""	""	""	""
"0000513717"	"00005458"	"50"	"3290"	"0"	"3290"	"0"	"c.3290C>G"	"r.(?)"	"p.(Thr1097Arg)"	""	""	""	""
"0000513718"	"00005458"	"30"	"3364"	"-3"	"3364"	"-3"	"c.3364-3C>T"	"r.spl?"	"p.?"	""	""	""	""
"0000513719"	"00005458"	"30"	"3576"	"0"	"3576"	"0"	"c.3576C>T"	"r.(?)"	"p.(Ala1192=)"	""	""	""	""
"0000513720"	"00005458"	"30"	"3642"	"0"	"3642"	"0"	"c.3642C>A"	"r.(?)"	"p.(Gly1214=)"	""	""	""	""
"0000513721"	"00005458"	"50"	"3938"	"0"	"3938"	"0"	"c.3938A>G"	"r.(?)"	"p.(Lys1313Arg)"	""	""	""	""
"0000513722"	"00005458"	"30"	"3938"	"0"	"3938"	"0"	"c.3938A>G"	"r.(?)"	"p.(Lys1313Arg)"	""	""	""	""
"0000513723"	"00005458"	"50"	"4012"	"0"	"4012"	"0"	"c.4012T>A"	"r.(?)"	"p.(Phe1338Ile)"	""	""	""	""
"0000513724"	"00005458"	"30"	"4176"	"0"	"4176"	"0"	"c.4176G>A"	"r.(?)"	"p.(Leu1392=)"	""	""	""	""
"0000607342"	"00005458"	"30"	"731"	"0"	"731"	"0"	"c.731T>C"	"r.(?)"	"p.(Leu244Ser)"	""	""	""	""
"0000607343"	"00005458"	"50"	"873"	"0"	"873"	"0"	"c.873C>T"	"r.(?)"	"p.(Gly291=)"	""	""	""	""
"0000607344"	"00005458"	"70"	"1007"	"0"	"1007"	"0"	"c.1007G>T"	"r.(?)"	"p.(Gly336Val)"	""	""	""	""
"0000607345"	"00005458"	"30"	"1777"	"0"	"1777"	"0"	"c.1777A>G"	"r.(?)"	"p.(Asn593Asp)"	""	""	""	""
"0000607346"	"00005458"	"30"	"3576"	"0"	"3576"	"0"	"c.3576C>T"	"r.(?)"	"p.(Ala1192=)"	""	""	""	""
"0000620900"	"00005458"	"90"	"753"	"0"	"753"	"0"	"c.753del"	"r.(?)"	"p.(Gly252ValfsTer11)"	""	""	""	""
"0000620901"	"00005458"	"50"	"821"	"0"	"821"	"0"	"c.821A>G"	"r.(?)"	"p.(Glu274Gly)"	""	""	""	""
"0000620902"	"00005458"	"50"	"1136"	"0"	"1136"	"0"	"c.1136C>A"	"r.(?)"	"p.(Ala379Asp)"	""	""	""	""
"0000620903"	"00005458"	"30"	"1188"	"0"	"1188"	"0"	"c.1188C>T"	"r.(?)"	"p.(Gly396=)"	""	""	""	""
"0000620904"	"00005458"	"30"	"3642"	"0"	"3642"	"0"	"c.3642C>A"	"r.(?)"	"p.(Gly1214=)"	""	""	""	""
"0000645992"	"00005458"	"70"	"2977"	"0"	"2977"	"0"	"c.2977G>A"	"r.(?)"	"p.(Gly993Ser)"	"41"	""	""	""
"0000646865"	"00005458"	"50"	"996"	"3"	"996"	"3"	"c.996+3A>G"	"r.spl?"	"p.?"	""	""	""	""
"0000650361"	"00005458"	"90"	"565"	"0"	"565"	"0"	"c.565G>C"	"r.(?)"	"p.(Gly189Arg)"	""	""	""	""
"0000650362"	"00005458"	"90"	"1618"	"0"	"1618"	"0"	"c.1618G>A"	"r.(?)"	"p.(Gly540Arg)"	""	""	""	""
"0000650363"	"00005458"	"30"	"1804"	"0"	"1804"	"0"	"c.1804C>A"	"r.(?)"	"p.(Pro602Thr)"	""	""	""	""
"0000650364"	"00005458"	"50"	"3019"	"0"	"3019"	"0"	"c.3019G>A"	"r.(?)"	"p.(Ala1007Thr)"	""	""	""	""
"0000650365"	"00005458"	"50"	"3133"	"0"	"3133"	"0"	"c.3133G>A"	"r.(?)"	"p.(Ala1045Thr)"	""	""	""	""
"0000650366"	"00005458"	"90"	"3563"	"0"	"3563"	"0"	"c.3563G>A"	"r.(?)"	"p.(Gly1188Glu)"	""	""	""	""
"0000650367"	"00005458"	"30"	"4011"	"34"	"4011"	"34"	"c.4011+34A>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000650368"	"00005458"	"70"	"4087"	"0"	"4087"	"0"	"c.4087C>T"	"r.(?)"	"p.(Arg1363*)"	""	""	""	""
"0000653035"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.(?)"	"p.(Gly183Ser)"	""	""	"missense"	""
"0000653152"	"00005458"	"70"	"1988"	"0"	"1988"	"0"	"c.1988G>T"	"r.(?)"	"p.(Gly663Val)"	""	""	""	""
"0000654464"	"00005458"	"30"	"111"	"0"	"111"	"0"	"c.111G>A"	"r.(?)"	"p.(Gln37=)"	""	""	""	""
"0000654465"	"00005458"	"50"	"113"	"0"	"113"	"0"	"c.113C>A"	"r.(?)"	"p.(Ser38Tyr)"	""	""	""	""
"0000654466"	"00005458"	"30"	"2002"	"0"	"2002"	"0"	"c.2002C>A"	"r.(?)"	"p.(Pro668Thr)"	""	""	""	""
"0000654467"	"00005458"	"30"	"2023"	"-161"	"2023"	"-161"	"c.2023-161T>C"	"r.(=)"	"p.(=)"	""	""	""	""
"0000654468"	"00005458"	"30"	"2229"	"55"	"2229"	"55"	"c.2229+55A>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000654469"	"00005458"	"30"	"2445"	"282"	"2445"	"282"	"c.2445+282G>A"	"r.(=)"	"p.(=)"	""	""	""	""
"0000654470"	"00005458"	"30"	"2553"	"11"	"2553"	"11"	"c.2553+11T>C"	"r.(=)"	"p.(=)"	""	""	""	""
"0000660105"	"00005458"	"70"	"4295"	"0"	"4295"	"0"	"c.4295G>T"	"r.(?)"	"p.(Arg1432Leu)"	""	""	""	""
"0000665316"	"00005458"	"90"	"4254"	"0"	"4254"	"0"	"c.4254G>A"	"r.(?)"	"p.(Thr1418Thr)"	""	""	""	""
"0000669579"	"00005458"	"30"	"4011"	"34"	"4011"	"34"	"c.4011+34A>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000676416"	"00005458"	"30"	"80"	"-59"	"80"	"-59"	"c.80-59C>T"	"r.(=)"	"p.(=)"	""	""	""	""
"0000676417"	"00005458"	"90"	"638"	"0"	"638"	"0"	"c.638G>A"	"r.(?)"	"p.(Gly213Asp)"	""	""	""	""
"0000676418"	"00005458"	"50"	"776"	"0"	"776"	"0"	"c.776T>C"	"r.(?)"	"p.(Phe259Ser)"	""	""	""	""
"0000676419"	"00005458"	"30"	"2931"	"9"	"2931"	"9"	"c.2931+9A>T"	"r.(=)"	"p.(=)"	""	""	""	""
"0000676420"	"00005458"	"30"	"3364"	"-3"	"3364"	"-3"	"c.3364-3C>T"	"r.spl?"	"p.?"	""	""	""	""
"0000688583"	"00005458"	"30"	"2241"	"0"	"2241"	"0"	"c.2241C>T"	"r.(?)"	"p.(Gly747=)"	""	""	""	""
"0000688584"	"00005458"	"70"	"2726"	"0"	"2726"	"0"	"c.2726G>A"	"r.(?)"	"p.(Gly909Asp)"	""	""	""	""
"0000698844"	"00005458"	"55"	"3818"	"0"	"3818"	"0"	"c.3818A>G"	"r.(?)"	"p.(Lys1273Arg)"	""	"substitution"	"missense"	""
"0000702087"	"00005458"	"99"	"0"	"0"	"0"	"0"	"c.1-?_c.4401+?del"	"r.?"	"-"	"1-52"	"deletion"	"deletion, multi exon"	""
"0000702088"	"00005458"	"99"	"30"	"0"	"30"	"0"	"c.30G>A"	"r.?"	"p.(Trp10*)"	"1"	"substitution"	"nonsense"	""
"0000702089"	"00005458"	"11"	"119"	"0"	"119"	"0"	"c.119C>T"	"r.?"	"p.(Ala40Val)"	"2"	"substitution"	"missense"	""
"0000702090"	"00005458"	"37"	"130"	"0"	"130"	"0"	"c.130G>A"	"r.?"	"p.(Val44Ile)"	"2"	"substitution"	"missense"	""
"0000702091"	"00005458"	"99"	"145"	"0"	"145"	"0"	"c.145C>G"	"r.?"	"p.(Pro49Ala)"	"2"	"substitution"	"missense"	""
"0000702092"	"00005458"	"99"	"145"	"0"	"145"	"0"	"c.145C>G"	"r.?"	"p.(Pro49Ala)"	"2"	"substitution"	"missense"	""
"0000702093"	"00005458"	"77"	"194"	"0"	"195"	"0"	"c.194_195dup"	"r.?"	"p.(Ile66*)"	"2"	"duplication"	"frameshift"	""
"0000702094"	"00005458"	"33"	"198"	"0"	"198"	"0"	"c.198A>G"	"r.?"	"p.(Ile66Met)"	"2"	"substitution"	"missense"	""
"0000702095"	"00005458"	"99"	"202"	"0"	"207"	"0"	"c.202_207del"	"r.?"	"p.(Asp68_Asp69del)"	"2"	"deletion"	"deletion"	""
"0000702096"	"00005458"	"99"	"318"	"0"	"325"	"0"	"c.318_325del"	"r.?"	"p.(Pro107Argfs*13)"	"3"	"deletion"	"frameshift"	""
"0000702097"	"00005458"	"55"	"370"	"0"	"370"	"0"	"c.370G>C"	"r.?"	"p.(Gly124Arg)"	"4_5"	"substitution"	"missense"	""
"0000702098"	"00005458"	"99"	"413"	"0"	"413"	"0"	"c.413del"	"r.?"	"p.(Pro138Leufs*27)"	"4_5"	"deletion"	"frameshift"	""
"0000702099"	"00005458"	"99"	"479"	"0"	"479"	"0"	"c.479dup"	"r.?"	"p.(Lys161Glnfs*45)"	"6"	"duplication"	"frameshift"	""
"0000702100"	"00005458"	"99"	"505"	"0"	"505"	"0"	"c.505C>T"	"r.?"	"p.(Leu169Phe)"	"6"	"substitution"	"missense"	"Leu2Phe"
"0000702101"	"00005458"	"97"	"528"	"5"	"528"	"5"	"c.528+5G>A"	"r.?"	"-"	"6i"	"substitution"	"splicing affected?"	""
"0000702102"	"00005458"	"99"	"530"	"0"	"530"	"0"	"c.530G>A"	"r.?"	"p.(Gly177Asp)"	"7"	"substitution"	"missense"	"Gly10Asp"
"0000702103"	"00005458"	"11"	"531"	"0"	"531"	"0"	"c.531C>A"	"r.?"	"p.(=)"	"7"	"substitution"	"silent"	""
"0000702104"	"00005458"	"99"	"536"	"0"	"536"	"0"	"c.536del"	"r.?"	"p.(Pro179Glnfs*43)"	"7"	"deletion"	"frameshift"	"Pro12Glnfs*43"
"0000702105"	"00005458"	"99"	"539"	"0"	"539"	"0"	"c.539G>A"	"r.?"	"p.(Gly180Asp)"	"7"	"substitution"	"missense"	"Gly13Asp"
"0000702106"	"00005458"	"99"	"539"	"0"	"539"	"0"	"c.539G>A"	"r.?"	"p.(Gly180Asp)"	"7"	"substitution"	"missense"	"Gly13Asp"
"0000702107"	"00005458"	"99"	"539"	"0"	"539"	"0"	"c.539G>A"	"r.?"	"p.(Gly180Asp)"	"7"	"substitution"	"missense"	"Gly13Asp"
"0000702108"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.?"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000702109"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.?"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000702110"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.?"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000702111"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.?"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000702112"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.?"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000702113"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.?"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000702114"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.?"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000702115"	"00005458"	"59"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.?"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000702116"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.?"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000702117"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.?"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000702118"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.?"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000702119"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.?"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000702120"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.?"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000702121"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.?"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000702122"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.?"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000702123"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.?"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000702124"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.?"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000702125"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.?"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000702126"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.?"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000702127"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.?"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000702128"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.?"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000702129"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.?"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000702130"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>C"	"r.?"	"p.(Gly183Arg)"	"7"	"substitution"	"missense"	"Gly16Arg"
"0000702131"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>T"	"r.?"	"p.(Gly183Cys)"	"7"	"substitution"	"missense"	"Gly16Cys"
"0000702132"	"00005458"	"99"	"548"	"0"	"548"	"0"	"c.548G>A"	"r.?"	"p.(Gly183Asp)"	"7"	"substitution"	"missense"	"Gly16Asp"
"0000702133"	"00005458"	"99"	"548"	"0"	"548"	"0"	"c.548G>A"	"r.?"	"p.(Gly183Asp)"	"7"	"substitution"	"missense"	"Gly16Asp"
"0000702134"	"00005458"	"99"	"548"	"0"	"548"	"0"	"c.548G>C"	"r.?"	"p.(Gly183Ala)"	"7"	"substitution"	"missense"	"Gly16Ala"
"0000702135"	"00005458"	"99"	"548"	"0"	"548"	"0"	"c.548G>C"	"r.?"	"p.(Gly183Ala)"	"7"	"substitution"	"missense"	"Gly16Ala"
"0000702136"	"00005458"	"77"	"550"	"0"	"550"	"0"	"c.550C>T"	"r.?"	"p.(Pro184Ser)"	"7"	"substitution"	"missense"	"Pro17Ser"
"0000702137"	"00005458"	"99"	"555"	"0"	"555"	"0"	"c.555del"	"r.?"	"p.(Gly186Valfs*36)"	"7"	"deletion"	"frameshift"	""
"0000702138"	"00005458"	"99"	"555"	"0"	"555"	"0"	"c.555del"	"r.?"	"p.(Gly186Valfs*36)"	"7"	"deletion"	"frameshift"	""
"0000702139"	"00005458"	"99"	"555"	"0"	"555"	"0"	"c.555del"	"r.?"	"p.(Gly186Valfs*36)"	"7"	"deletion"	"frameshift"	""
"0000702140"	"00005458"	"99"	"556"	"0"	"556"	"0"	"c.556G>A"	"r.?"	"p.(Gly186Ser)"	"7"	"substitution"	"missense"	"Gly19Ser"
"0000702141"	"00005458"	"99"	"556"	"0"	"556"	"0"	"c.556G>A"	"r.?"	"p.(Gly186Ser)"	"7"	"substitution"	"missense"	"Gly19Ser"
"0000702142"	"00005458"	"99"	"565"	"0"	"565"	"0"	"c.565G>C"	"r.?"	"p.(Gly189Arg)"	"7"	"substitution"	"missense"	"Gly22Arg"
"0000702143"	"00005458"	"99"	"574"	"0"	"574"	"0"	"c.574G>A"	"r.?"	"p.(Gly192Ser)"	"7"	"substitution"	"missense"	"Gly25Ser"
"0000702144"	"00005458"	"99"	"575"	"0"	"575"	"0"	"c.575G>A"	"r.?"	"p.(Gly192Asp)"	"7"	"substitution"	"missense"	"Gly25Asp"
"0000702145"	"00005458"	"99"	"575"	"0"	"575"	"0"	"c.575G>A"	"r.?"	"p.(Gly192Asp)"	"7"	"substitution"	"missense"	"Gly25Asp"
"0000702146"	"00005458"	"99"	"575"	"0"	"575"	"0"	"c.575G>A"	"r.?"	"p.(Gly192Asp)"	"7"	"substitution"	"missense"	"Gly25Asp"
"0000702147"	"00005458"	"99"	"575"	"0"	"575"	"0"	"c.575G>T"	"r.?"	"p.(Gly192Val)"	"7"	"substitution"	"missense"	"Gly25Val"
"0000702148"	"00005458"	"99"	"582"	"1"	"582"	"1"	"c.582+1G>C"	"r.529_582del"	"p.(Pro178_Gly195del)"	"7i"	"substitution"	"splicing affected?"	""
"0000702149"	"00005458"	"99"	"582"	"1"	"582"	"1"	"c.582+1G>C"	"r.529_582del"	"p.(Pro178_Gly195del)"	"7i"	"substitution"	"splicing affected?"	""
"0000702150"	"00005458"	"99"	"582"	"2"	"582"	"2"	"c.582+2dup"	"r.?"	"-"	"7i"	"substitution"	"splicing affected?"	""
"0000702151"	"00005458"	"99"	"582"	"5"	"582"	"5"	"c.582+5G>A"	"r.?"	"-"	"7i"	"substitution"	"splicing affected?"	""
"0000702152"	"00005458"	"99"	"582"	"5"	"582"	"5"	"c.582+5G>A"	"r.?"	"-"	"7i"	"substitution"	"splicing affected?"	""
"0000702153"	"00005458"	"99"	"582"	"5"	"582"	"5"	"c.582+5G>T"	"r.?"	"-"	"7i"	"substitution"	"splicing affected?"	""
"0000702154"	"00005458"	"99"	"582"	"5"	"582"	"11"	"c.582+5_582+11delinsACA"	"r.spl?"	"p.?"	"7i"	"deletion"	"splicing affected?"	""
"0000702155"	"00005458"	"99"	"582"	"6"	"582"	"6"	"c.582+6T>A"	"r.?"	"-"	"7i"	"substitution"	"splicing affected?"	""
"0000702156"	"00005458"	"99"	"582"	"6"	"582"	"6"	"c.582+6T>C"	"r.?"	"-"	"7i"	"substitution"	"splicing affected?"	""
"0000702157"	"00005458"	"99"	"582"	"6"	"582"	"6"	"c.582+6T>C"	"r.?"	"-"	"7i"	"substitution"	"splicing affected?"	""
"0000702158"	"00005458"	"99"	"582"	"53"	"798"	"317"	"c.582+53_798+317delinsATGCAAAATCAAA"	"r.?"	"p.(Ser196_Gly267del)"	"7i"	"delins"	"deletion"	""
"0000702159"	"00005458"	"99"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.?"	"p.(Gly195Arg)"	"8"	"substitution"	"missense"	"Gly28Arg"
"0000702160"	"00005458"	"99"	"583"	"0"	"583"	"0"	"c.583G>C"	"r.?"	"p.(Gly195Arg)"	"8"	"substitution"	"missense"	"Gly28Arg"
"0000702161"	"00005458"	"99"	"583"	"0"	"583"	"0"	"c.583G>C"	"r.?"	"p.(Gly195Arg)"	"8"	"substitution"	"missense"	"Gly28Arg"
"0000702162"	"00005458"	"99"	"592"	"0"	"592"	"0"	"c.592G>A"	"r.?"	"p.(Gly198Arg)"	"8"	"substitution"	"missense"	"Gly31Arg"
"0000702163"	"00005458"	"99"	"593"	"0"	"593"	"0"	"c.593G>A"	"r.?"	"p.(Gly198Glu)"	"8"	"substitution"	"missense"	"Gly31Glu"
"0000702164"	"00005458"	"99"	"601"	"0"	"601"	"0"	"c.601G>C"	"r.?"	"p.(Gly201Arg)"	"8"	"substitution"	"missense"	"Gly34Arg"
"0000702165"	"00005458"	"99"	"610"	"0"	"610"	"0"	"c.610G>A"	"r.?"	"p.(Gly204Ser)"	"8"	"substitution"	"missense"	"Gly37Ser"
"0000702166"	"00005458"	"99"	"611"	"0"	"611"	"0"	"c.611G>A"	"r.?"	"p.(Gly204Asp)"	"8"	"substitution"	"missense"	"Gly37Asp"
"0000702167"	"00005458"	"99"	"611"	"0"	"611"	"0"	"c.611G>A"	"r.?"	"p.(Gly204Asp)"	"8"	"substitution"	"missense"	"Gly37Asp"
"0000702168"	"00005458"	"99"	"615"	"0"	"629"	"0"	"c.615_629dup"	"r.?"	"-"	"8"	"duplication"	"duplication"	""
"0000702169"	"00005458"	"99"	"620"	"0"	"620"	"0"	"c.620G>A"	"r.?"	"p.(Gly207Glu)"	"8"	"substitution"	"missense"	"Gly40Glu"
"0000702170"	"00005458"	"99"	"620"	"0"	"620"	"0"	"c.620G>C"	"r.?"	"p.(Gly207Ala)"	"8"	"substitution"	"missense"	"Gly40Ala"
"0000702171"	"00005458"	"99"	"620"	"0"	"620"	"0"	"c.620G>T"	"r.?"	"p.(Gly207Val)"	"8"	"substitution"	"missense"	"Gly40Val"
"0000702172"	"00005458"	"99"	"629"	"0"	"629"	"0"	"c.629G>A"	"r.?"	"p.(Gly210Asp)"	"8"	"substitution"	"missense"	"Gly43Asp"
"0000702173"	"00005458"	"99"	"629"	"0"	"629"	"0"	"c.629G>T"	"r.?"	"p.(Gly210Val)"	"8"	"substitution"	"missense"	"Gly43Val"
"0000702174"	"00005458"	"99"	"631"	"0"	"636"	"6"	"c.631_636+6delins  TACTAAATATA"	"r.?"	"-"	"8"	"delins"	"splicing affected?"	""
"0000702175"	"00005458"	"99"	"636"	"1"	"636"	"1"	"c.636+1G>A"	"r.?"	"-"	"8i"	"substitution"	"splicing affected?"	""
"0000702176"	"00005458"	"99"	"636"	"5"	"636"	"5"	"c.636+5G>A"	"r.?"	"-"	"8i"	"substitution"	"splicing affected?"	""
"0000702177"	"00005458"	"99"	"636"	"5"	"636"	"5"	"c.636+5G>A"	"r.?"	"-"	"8i"	"substitution"	"splicing affected?"	""
"0000702178"	"00005458"	"99"	"636"	"5"	"636"	"5"	"c.636+5G>A"	"r.?"	"-"	"8i"	"substitution"	"splicing affected?"	""
"0000702179"	"00005458"	"99"	"636"	"5"	"636"	"5"	"c.636+5G>A"	"r.?"	"-"	"8i"	"substitution"	"splicing affected?"	""
"0000702180"	"00005458"	"99"	"636"	"5"	"636"	"5"	"c.636+5G>A"	"r.?"	"-"	"8i"	"substitution"	"splicing affected?"	""
"0000702181"	"00005458"	"99"	"636"	"5"	"636"	"5"	"c.636+5G>A"	"r.?"	"-"	"8i"	"substitution"	"splicing affected?"	""
"0000702182"	"00005458"	"97"	"636"	"5"	"636"	"6"	"c.636+5_636+6delinsCA"	"r.?"	"-"	"8i"	"delins"	"splicing affected?"	""
"0000702183"	"00005458"	"99"	"637"	"0"	"637"	"0"	"c.637G>A"	"r.?"	"p.(Gly213Ser)"	"9"	"substitution"	"missense"	"Gly46Ser"
"0000702184"	"00005458"	"99"	"638"	"0"	"638"	"0"	"c.638G>A"	"r.?"	"p.(Gly213Asp)"	"9"	"substitution"	"missense"	"Gly46Asp"
"0000702185"	"00005458"	"99"	"638"	"0"	"638"	"0"	"c.638G>A"	"r.?"	"p.(Gly213Asp)"	"9"	"substitution"	"missense"	"Gly46Asp"
"0000702186"	"00005458"	"99"	"647"	"0"	"647"	"0"	"c.647G>A"	"r.?"	"p.(Gly216Glu)"	"9"	"substitution"	"missense"	"Gly49Glu"
"0000702187"	"00005458"	"99"	"647"	"0"	"647"	"0"	"c.647G>A"	"r.?"	"p.(Gly216Glu)"	"9"	"substitution"	"missense"	"Gly49Glu"
"0000702188"	"00005458"	"99"	"647"	"0"	"647"	"0"	"c.647G>C"	"r.?"	"p.(Gly216Ala)"	"9"	"substitution"	"missense"	"Gly49Ala"
"0000702189"	"00005458"	"99"	"649"	"0"	"1663"	"-86"	"c.649_1663-86del"	"r.?"	"p.(Gly212_Pro554del)"	"9"	"deletion"	"deletion"	""
"0000702190"	"00005458"	"99"	"655"	"0"	"655"	"0"	"c.655G>T"	"r.?"	"p.(Gly219Cys)"	"9"	"substitution"	"missense"	"Gly52Cys"
"0000702191"	"00005458"	"99"	"656"	"0"	"656"	"0"	"c.656G>A"	"r.?"	"p.(Gly219Asp)"	"9"	"substitution"	"missense"	"Gly52Asp"
"0000702192"	"00005458"	"99"	"656"	"0"	"656"	"0"	"c.656G>A"	"r.?"	"p.(Gly219Asp)"	"9"	"substitution"	"missense"	"Gly52Asp"
"0000702193"	"00005458"	"99"	"656"	"0"	"656"	"0"	"c.656G>C"	"r.?"	"p.(Gly219Ala)"	"9"	"substitution"	"missense"	"Gly52Ala"
"0000702194"	"00005458"	"79"	"665"	"0"	"665"	"0"	"c.665G>A"	"r.?"	"p.(Gly222Asp)"	"9"	"substitution"	"missense"	"Gly55Asp"
"0000702195"	"00005458"	"99"	"665"	"0"	"665"	"0"	"c.665G>A"	"r.?"	"p.(Gly222Asp)"	"9"	"substitution"	"missense"	"Gly55Asp"
"0000702196"	"00005458"	"99"	"665"	"0"	"665"	"0"	"c.665G>A"	"r.?"	"p.(Gly222Asp)"	"9"	"substitution"	"missense"	"Gly55Asp"
"0000702197"	"00005458"	"99"	"665"	"0"	"665"	"0"	"c.665G>A"	"r.?"	"p.(Gly222Asp)"	"9"	"substitution"	"missense"	"Gly55Asp"
"0000702198"	"00005458"	"99"	"665"	"0"	"665"	"0"	"c.665G>A"	"r.?"	"p.(Gly222Asp)"	"9"	"substitution"	"missense"	"Gly55Asp"
"0000702199"	"00005458"	"99"	"665"	"0"	"665"	"0"	"c.665G>T"	"r.?"	"p.(Gly222Val)"	"9"	"substitution"	"missense"	"Gly46Val"
"0000702200"	"00005458"	"99"	"665"	"0"	"665"	"0"	"c.665G>T"	"r.?"	"p.(Gly222Val)"	"9"	"substitution"	"missense"	"Gly46Val"
"0000702201"	"00005458"	"99"	"673"	"0"	"673"	"0"	"c.673G>A"	"r.?"	"p.(Gly225Ser)"	"9"	"substitution"	"missense"	"Gly58Ser"
"0000702202"	"00005458"	"99"	"674"	"0"	"674"	"0"	"c.674G>A"	"r.?"	"p.(Gly225Asp)"	"9"	"substitution"	"missense"	"Gly58Asp"
"0000702203"	"00005458"	"99"	"674"	"0"	"674"	"0"	"c.674G>C"	"r.?"	"p.(Gly225Ala)"	"9"	"substitution"	"missense"	"Gly58Ala"
"0000702204"	"00005458"	"99"	"674"	"0"	"674"	"0"	"c.674G>T"	"r.?"	"p.(Gly225Val)"	"9"	"substitution"	"missense"	"Gly58Val"
"0000702205"	"00005458"	"99"	"682"	"0"	"682"	"0"	"c.682G>C"	"r.?"	"p.(Gly228Arg)"	"9"	"substitution"	"missense"	"Gly61Arg"
"0000702206"	"00005458"	"99"	"683"	"0"	"683"	"0"	"c.683G>A"	"r.?"	"p.(Gly228Glu)"	"9"	"substitution"	"missense"	"Gly61Glu"
"0000702207"	"00005458"	"99"	"683"	"0"	"683"	"0"	"c.683G>A"	"r.?"	"p.(Gly228Glu)"	"9"	"substitution"	"missense"	"Gly61Glu"
"0000702208"	"00005458"	"99"	"690"	"1"	"690"	"1"	"c.690+1G>A"	"r.?"	"-"	"9i"	"substitution"	"splicing affected?"	""
"0000702209"	"00005458"	"99"	"690"	"1"	"690"	"1"	"c.690+1G>T"	"r.?"	"-"	"9i"	"substitution"	"splicing affected?"	""
"0000702210"	"00005458"	"99"	"690"	"2"	"690"	"2"	"c.690+2T>A"	"r.?"	"-"	"9i"	"substitution"	"splicing affected?"	""
"0000702211"	"00005458"	"99"	"690"	"2"	"690"	"2"	"c.690+2T>G"	"r.?"	"-"	"9i"	"substitution"	"splicing affected?"	""
"0000702212"	"00005458"	"99"	"691"	"-2"	"691"	"-2"	"c.691-2A>G"	"r.?"	"-"	"9i"	"substitution"	"splicing affected?"	""
"0000702213"	"00005458"	"99"	"692"	"0"	"692"	"0"	"c.692G>A"	"r.?"	"p.(Gly231Glu)"	"10"	"substitution"	"missense"	"Gly64Glu"
"0000702214"	"00005458"	"99"	"692"	"0"	"692"	"0"	"c.692G>A"	"r.?"	"p.(Gly231Glu)"	"10"	"substitution"	"missense"	"Gly64Glu"
"0000702215"	"00005458"	"99"	"701"	"0"	"701"	"0"	"c.701G>A"	"r.?"	"p.(Gly234Asp)"	"10"	"substitution"	"missense"	"Gly67Asp"
"0000702216"	"00005458"	"99"	"709"	"0"	"709"	"0"	"c.709G>A"	"r.?"	"p.(Gly237Arg)"	"10"	"substitution"	"missense"	"Gly70Arg"
"0000702217"	"00005458"	"99"	"709"	"0"	"709"	"0"	"c.709G>A"	"r.?"	"p.(Gly237Arg)"	"10"	"substitution"	"missense"	"Gly70Arg"
"0000702218"	"00005458"	"99"	"709"	"0"	"709"	"0"	"c.709G>A"	"r.?"	"p.(Gly237Arg)"	"10"	"substitution"	"missense"	"Gly70Arg"
"0000702219"	"00005458"	"99"	"709"	"0"	"709"	"0"	"c.709G>A"	"r.?"	"p.(Gly237Arg)"	"10"	"substitution"	"missense"	"Gly70Arg"
"0000702220"	"00005458"	"99"	"709"	"0"	"709"	"0"	"c.709G>A"	"r.?"	"p.(Gly237Arg)"	"10"	"substitution"	"missense"	"Gly70Arg"
"0000702221"	"00005458"	"99"	"709"	"0"	"709"	"0"	"c.709G>A"	"r.?"	"p.(Gly237Arg)"	"10"	"substitution"	"missense"	"Gly70Arg"
"0000702222"	"00005458"	"99"	"709"	"0"	"709"	"0"	"c.709G>A"	"r.?"	"p.(Gly237Arg)"	"10"	"substitution"	"missense"	"Gly70Arg"
"0000702223"	"00005458"	"99"	"718"	"0"	"718"	"0"	"c.718G>C"	"r.?"	"p.(Gly240Arg)"	"10"	"substitution"	"missense"	"Gly73Arg"
"0000702224"	"00005458"	"99"	"719"	"0"	"719"	"0"	"c.719G>C"	"r.?"	"p.(Gly240Ala)"	"10"	"substitution"	"missense"	"Gly73Ala"
"0000702225"	"00005458"	"99"	"719"	"0"	"719"	"0"	"c.719G>T"	"r.?"	"p.(Gly240Val)"	"10"	"substitution"	"missense"	"Gly73Val"
"0000702226"	"00005458"	"77"	"721"	"0"	"721"	"0"	"c.721G>A"	"r.?"	"p.(Glu241Lys)"	"10"	"substitution"	"missense"	"Glu74Lys"
"0000702227"	"00005458"	"99"	"721"	"0"	"721"	"0"	"c.721G>A"	"r.?"	"p.(Glu241Lys)"	"10"	"substitution"	"missense"	"Glu74Lys"
"0000702228"	"00005458"	"99"	"721"	"0"	"721"	"0"	"c.721G>A"	"r.?"	"p.(Glu241Lys)"	"10"	"substitution"	"missense"	"Glu74Lys"
"0000702229"	"00005458"	"99"	"728"	"0"	"728"	"0"	"c.728G>A"	"r.?"	"p.(Gly243Glu)"	"10"	"substitution"	"missense"	"Gly76Glu"
"0000702230"	"00005458"	"99"	"728"	"0"	"728"	"0"	"c.728G>T"	"r.?"	"p.(Gly243Val)"	"10"	"substitution"	"missense"	"Gly76Val"
"0000702231"	"00005458"	"99"	"737"	"0"	"737"	"0"	"c.737G>A"	"r.?"	"p.(Gly246Glu)"	"10"	"substitution"	"missense"	"Gly79Glu"
"0000702232"	"00005458"	"99"	"737"	"0"	"737"	"0"	"c.737G>A"	"r.?"	"p.(Gly246Glu)"	"10"	"substitution"	"missense"	"Gly79Glu"
"0000702233"	"00005458"	"99"	"744"	"1"	"744"	"1"	"c.744+1G>A"	"r.?"	"-"	"10i"	"substitution"	"splicing affected?"	""
"0000702234"	"00005458"	"99"	"744"	"1"	"744"	"1"	"c.744+1G>A"	"r.?"	"-"	"10i"	"substitution"	"splicing affected?"	""
"0000702235"	"00005458"	"99"	"799"	"-1"	"996"	"1"	"c.(744+1_799-1)_(996+1_1150-1)del"	"r.?"	"-"	"11-14"	"deletion"	"deletion, multi exon"	""
"0000702236"	"00005458"	"99"	"745"	"0"	"745"	"0"	"c.745G>A"	"r.?"	"p.(Gly249Ser)"	"11"	"substitution"	"missense"	"Gly82Ser"
"0000702237"	"00005458"	"99"	"746"	"0"	"746"	"0"	"c.746G>A"	"r.?"	"p.(Gly249Asp)"	"11"	"substitution"	"missense"	"Gly82Asp"
"0000702238"	"00005458"	"99"	"746"	"0"	"746"	"0"	"c.746G>A"	"r.?"	"p.(Gly249Asp)"	"11"	"substitution"	"missense"	"Gly82Asp"
"0000702239"	"00005458"	"99"	"746"	"0"	"746"	"0"	"c.746G>T"	"r.?"	"p.(Gly249Val)"	"11"	"substitution"	"missense"	"Gly82Val"
"0000702240"	"00005458"	"99"	"750"	"0"	"750"	"0"	"c.750delinsAA"	"r.?"	"p.(Gly252Argfs*26)"	"11"	"delins"	"frameshift"	""
"0000702241"	"00005458"	"99"	"754"	"0"	"754"	"0"	"c.754G>C"	"r.?"	"p.(Gly252Arg)"	"11"	"substitution"	"missense"	"Gly85Arg"
"0000702242"	"00005458"	"99"	"755"	"0"	"755"	"0"	"c.755G>A"	"r.?"	"p.(Gly252Asp)"	"11"	"substitution"	"missense"	"Gly85Asp"
"0000702243"	"00005458"	"77"	"755"	"0"	"755"	"0"	"c.755G>A"	"r.?"	"p.(Gly252Asp)"	"11"	"substitution"	"missense"	"Gly85Asp"
"0000702244"	"00005458"	"99"	"755"	"0"	"755"	"0"	"c.755G>T"	"r.?"	"p.(Gly252Val)"	"11"	"substitution"	"missense"	"Gly85Val"
"0000702245"	"00005458"	"99"	"755"	"0"	"755"	"0"	"c.755G>T"	"r.?"	"p.(Gly252Val)"	"11"	"substitution"	"missense"	"Gly85Val"
"0000702246"	"00005458"	"99"	"755"	"0"	"755"	"0"	"c.755G>T"	"r.?"	"p.(Gly252Val)"	"11"	"substitution"	"missense"	"Gly85Val"
"0000702247"	"00005458"	"99"	"755"	"0"	"755"	"0"	"c.755G>T"	"r.?"	"p.(Gly252Val)"	"11"	"substitution"	"missense"	"Gly85Val"
"0000702248"	"00005458"	"99"	"755"	"0"	"755"	"0"	"c.755G>T"	"r.?"	"p.(Gly252Val)"	"11"	"substitution"	"missense"	"Gly85Val"
"0000702249"	"00005458"	"99"	"755"	"0"	"755"	"0"	"c.755G>T"	"r.?"	"p.(Gly252Val)"	"11"	"substitution"	"missense"	"Gly85Val"
"0000702250"	"00005458"	"99"	"755"	"0"	"755"	"0"	"c.755G>T"	"r.?"	"p.(Gly252Val)"	"11"	"substitution"	"missense"	"Gly85Val"
"0000702251"	"00005458"	"99"	"755"	"0"	"755"	"0"	"c.755G>T"	"r.?"	"p.(Gly252Val)"	"11"	"substitution"	"missense"	"Gly85Val"
"0000702252"	"00005458"	"99"	"755"	"0"	"755"	"0"	"c.755G>T"	"r.?"	"p.(Gly252Val)"	"11"	"substitution"	"missense"	"Gly85Val"
"0000702253"	"00005458"	"99"	"755"	"0"	"755"	"0"	"c.755G>T"	"r.?"	"p.(Gly252Val)"	"11"	"substitution"	"missense"	"Gly85Val"
"0000702254"	"00005458"	"99"	"755"	"0"	"755"	"0"	"c.755G>T"	"r.?"	"p.(Gly252Val)"	"11"	"substitution"	"missense"	"Gly85Val"
"0000702255"	"00005458"	"99"	"755"	"0"	"755"	"0"	"c.755G>T"	"r.?"	"p.(Gly252Val)"	"11"	"substitution"	"missense"	"Gly85Val"
"0000702256"	"00005458"	"99"	"755"	"0"	"755"	"0"	"c.755G>T"	"r.?"	"p.(Gly252Val)"	"11"	"substitution"	"missense"	"Gly85Val"
"0000702257"	"00005458"	"99"	"755"	"0"	"755"	"0"	"c.755G>T"	"r.?"	"p.(Gly252Val)"	"11"	"substitution"	"missense"	"Gly85Val"
"0000702258"	"00005458"	"99"	"764"	"0"	"764"	"0"	"c.764G>A"	"r.?"	"p.(Gly255Glu)"	"11"	"substitution"	"missense"	"Gly88Glu"
"0000702259"	"00005458"	"99"	"764"	"0"	"764"	"0"	"c.764G>T"	"r.?"	"p.(Gly255Val)"	"11"	"substitution"	"missense"	"Gly88Val"
"0000702260"	"00005458"	"99"	"764"	"0"	"764"	"0"	"c.764G>T"	"r.?"	"p.(Gly255Val)"	"11"	"substitution"	"missense"	"Gly88Val"
"0000702261"	"00005458"	"99"	"766"	"0"	"766"	"0"	"c.766del"	"r.?"	"p.(Ile256Tyrfs*7)"	"11"	"deletion"	"frameshift"	""
"0000702262"	"00005458"	"99"	"766"	"0"	"766"	"0"	"c.766del"	"r.?"	"p.(Ile256Tyrfs*7)"	"11"	"deletion"	"frameshift"	""
"0000702263"	"00005458"	"99"	"773"	"0"	"773"	"0"	"c.773G>C"	"r.?"	"p.(Gly258Ala)"	"11"	"substitution"	"missense"	"Gly91Ala"
"0000702264"	"00005458"	"99"	"781"	"0"	"781"	"0"	"c.781G>A"	"r.?"	"p.(Gly261Ser)"	"11"	"substitution"	"missense"	"Gly94Ser"
"0000702265"	"00005458"	"99"	"782"	"0"	"782"	"0"	"c.782G>A"	"r.?"	"p.(Gly261Asp)"	"11"	"substitution"	"missense"	"Gly94Asp"
"0000702266"	"00005458"	"99"	"782"	"0"	"782"	"0"	"c.782G>T"	"r.?"	"p.(Gly261Val)"	"11"	"substitution"	"missense"	"Gly94Val"
"0000702267"	"00005458"	"99"	"790"	"0"	"790"	"0"	"c.790G>A"	"r.?"	"p.(Gly264Arg)"	"11"	"substitution"	"missense"	"Gly97Arg"
"0000702268"	"00005458"	"99"	"791"	"0"	"791"	"0"	"c.791G>A"	"r.?"	"p.(Gly264Glu)"	"11"	"substitution"	"missense"	"Gly97Glu"
"0000702269"	"00005458"	"99"	"798"	"1"	"798"	"1"	"c.798+1G>A"	"r.?"	"p.(Phe268Leufs*10)"	"11i"	"substitution"	"splicing affected?"	""
"0000702270"	"00005458"	"97"	"799"	"-4"	"804"	"0"	"c.799-4_804del"	"r.?"	"-"	"11i"	"deletion"	"frameshift"	""
"0000702271"	"00005458"	"77"	"799"	"-1"	"799"	"-1"	"c.799-1G>A"	"r.?"	"-"	"11i"	"substitution"	"splicing affected?"	""
"0000702272"	"00005458"	"99"	"799"	"0"	"799"	"0"	"c.799G>A"	"r.?"	"p.(Gly267Ser)"	"12"	"substitution"	"missense"	"Gly100Ser"
"0000702273"	"00005458"	"99"	"800"	"0"	"800"	"0"	"c.800G>T"	"r.?"	"p.(Gly267Val)"	"12"	"substitution"	"missense"	"Gly100Val"
"0000702274"	"00005458"	"99"	"800"	"0"	"800"	"0"	"c.800G>T"	"r.?"	"p.(Gly267Val)"	"12"	"substitution"	"missense"	"Gly100Val"
"0000702275"	"00005458"	"99"	"800"	"0"	"800"	"0"	"c.800G>T"	"r.?"	"p.(Gly267Val)"	"12"	"substitution"	"missense"	"Gly100Val"
"0000702276"	"00005458"	"11"	"805"	"0"	"805"	"0"	"c.805G>C"	"r.?"	"p.(Asp269His)"	"12"	"substitution"	"missense"	"Asp102His"
"0000702277"	"00005458"	"99"	"809"	"0"	"809"	"0"	"c.809G>A"	"r.?"	"p.(Gly270Glu)"	"12"	"substitution"	"missense"	"Gly103Glu"
"0000702278"	"00005458"	"99"	"811"	"0"	"811"	"0"	"c.811C>T"	"r.?"	"p.(Arg271*)"	"12"	"substitution"	"nonsense"	"Arg104Ter"
"0000702279"	"00005458"	"99"	"811"	"0"	"811"	"0"	"c.811C>T"	"r.?"	"p.(Arg271*)"	"12"	"substitution"	"nonsense"	"Arg104Ter"
"0000702280"	"00005458"	"93"	"812"	"0"	"812"	"0"	"c.812G>A"	"r.?"	"p.(Arg271Gln)"	"12"	"substitution"	"missense"	"Arg104Gln"
"0000702281"	"00005458"	"73"	"812"	"0"	"812"	"0"	"c.812G>A"	"r.?"	"p.(Arg271Gln)"	"12"	"substitution"	"missense"	"Arg104Gln"
"0000702282"	"00005458"	"73"	"812"	"0"	"812"	"0"	"c.812G>A"	"r.?"	"p.(Arg271Gln)"	"12"	"substitution"	"missense"	"Arg104Gln"
"0000702283"	"00005458"	"55"	"821"	"0"	"821"	"0"	"c.821A>G"	"r.?"	"p.(Glu274Gly)"	"12"	"substitution"	"missense"	"Glu107Gly"
"0000702284"	"00005458"	"99"	"826"	"0"	"826"	"0"	"c.826G>A"	"r.?"	"p.(Gly276Ser)"	"12"	"substitution"	"missense"	"Gly109Ser"
"0000702285"	"00005458"	"99"	"826"	"0"	"826"	"0"	"c.826G>A"	"r.?"	"p.(Gly276Ser)"	"12"	"substitution"	"missense"	"Gly109Ser"
"0000702286"	"00005458"	"99"	"827"	"0"	"827"	"0"	"c.827G>A"	"r.?"	"p.(Gly276Asp)"	"12"	"substitution"	"missense"	"Gly109Asp"
"0000702287"	"00005458"	"99"	"836"	"0"	"836"	"0"	"c.836G>A"	"r.?"	"p.(Gly279Asp)"	"12"	"substitution"	"missense"	"Gly112Asp"
"0000702288"	"00005458"	"99"	"836"	"0"	"836"	"0"	"c.836G>A"	"r.?"	"p.(Gly279Asp)"	"12"	"substitution"	"missense"	"Gly112Asp"
"0000702289"	"00005458"	"99"	"836"	"0"	"836"	"0"	"c.836G>A"	"r.?"	"p.(Gly279Asp)"	"12"	"substitution"	"missense"	"Gly112Asp"
"0000702290"	"00005458"	"99"	"836"	"0"	"836"	"0"	"c.836G>A"	"r.?"	"p.(Gly279Asp)"	"12"	"substitution"	"missense"	"Gly112Asp"
"0000702291"	"00005458"	"99"	"836"	"0"	"836"	"0"	"c.836G>A"	"r.?"	"p.(Gly279Asp)"	"12"	"substitution"	"missense"	"Gly112Asp"
"0000702292"	"00005458"	"99"	"836"	"0"	"836"	"0"	"c.836G>A"	"r.?"	"p.(Gly279Asp)"	"12"	"substitution"	"missense"	"Gly112Asp"
"0000702293"	"00005458"	"99"	"836"	"0"	"836"	"0"	"c.836G>A"	"r.?"	"p.(Gly279Asp)"	"12"	"substitution"	"missense"	"Gly112Asp"
"0000702294"	"00005458"	"99"	"836"	"0"	"836"	"0"	"c.836G>A"	"r.?"	"p.(Gly279Asp)"	"12"	"substitution"	"missense"	"Gly112Asp"
"0000702295"	"00005458"	"99"	"836"	"0"	"836"	"0"	"c.836G>T"	"r.?"	"p.(Gly279Val)"	"12"	"substitution"	"missense"	"Gly112Val"
"0000702296"	"00005458"	"99"	"844"	"0"	"844"	"0"	"c.844G>A"	"r.?"	"p.(Gly282Arg)"	"12"	"substitution"	"missense"	"Gly115Arg"
"0000702297"	"00005458"	"99"	"889"	"0"	"889"	"0"	"c.889G>A"	"r.?"	"p.(Gly297Arg)"	"13"	"substitution"	"missense"	"Gly130Arg"
"0000702298"	"00005458"	"99"	"897"	"1"	"897"	"1"	"c.897+1G>C"	"r.?"	"-"	"13i"	"substitution"	"splicing affected?"	""
"0000702299"	"00005458"	"79"	"897"	"1"	"897"	"1"	"c.897+1G>T"	"r.?"	"-"	"13i"	"substitution"	"splicing affected?"	""
"0000702300"	"00005458"	"99"	"897"	"2"	"897"	"2"	"c.897+2T>A"	"r.?"	"-"	"13i"	"substitution"	"splicing affected?"	""
"0000702301"	"00005458"	"99"	"898"	"-2"	"898"	"-2"	"c.898-2A>C"	"r.?"	"-"	"13i"	"substitution"	"splicing affected?"	""
"0000702302"	"00005458"	"99"	"898"	"-1"	"898"	"-1"	"c.898-1G>C"	"r.?"	"-"	"13i"	"substitution"	"splicing affected?"	""
"0000702303"	"00005458"	"99"	"898"	"-1"	"898"	"-1"	"c.898-1G>C"	"r.?"	"-"	"13i"	"substitution"	"splicing affected?"	""
"0000702304"	"00005458"	"99"	"898"	"-1"	"898"	"-1"	"c.898-1G>C"	"r.?"	"-"	"13i"	"substitution"	"splicing affected?"	""
"0000702305"	"00005458"	"99"	"898"	"-1"	"898"	"-1"	"c.898-1G>C"	"r.?"	"-"	"13i"	"substitution"	"splicing affected?"	""
"0000702306"	"00005458"	"99"	"898"	"0"	"898"	"0"	"c.898G>C"	"r.?"	"p.(Gly300Arg)"	"14"	"substitution"	"missense"	"Gly133Arg"
"0000702307"	"00005458"	"99"	"899"	"0"	"899"	"0"	"c.899G>A"	"r.?"	"p.(Gly300Asp)"	"14"	"substitution"	"missense"	"Gly133Asp"
"0000702308"	"00005458"	"99"	"899"	"0"	"899"	"0"	"c.899G>T"	"r.?"	"p.(Gly300Val)"	"14"	"substitution"	"missense"	"Gly133Val"
"0000702309"	"00005458"	"99"	"907"	"0"	"907"	"0"	"c.907G>A"	"r.?"	"p.(Gly303Arg)"	"14"	"substitution"	"missense"	"Gly136Arg"
"0000702310"	"00005458"	"99"	"907"	"0"	"907"	"0"	"c.907G>A"	"r.?"	"p.(Gly303Arg)"	"14"	"substitution"	"missense"	"Gly136Arg"
"0000702311"	"00005458"	"99"	"915"	"0"	"916"	"0"	"c.915_916insGTAAGA"	"r.?"	"p.(Pro305_Gly306insValArg)"	"14"	"insertion"	"insertion"	""
"0000702312"	"00005458"	"99"	"926"	"0"	"926"	"0"	"c.926G>A"	"r.?"	"p.(Gly309Glu)"	"14"	"substitution"	"missense"	"Gly142Glu"
"0000702313"	"00005458"	"99"	"926"	"0"	"926"	"0"	"c.926G>A"	"r.?"	"p.(Gly309Glu)"	"14"	"substitution"	"missense"	"Gly142Glu"
"0000702314"	"00005458"	"99"	"926"	"0"	"926"	"0"	"c.926G>T"	"r.?"	"p.(Gly309Val)"	"14"	"substitution"	"missense"	"Gly142Val"
"0000702315"	"00005458"	"99"	"926"	"0"	"926"	"0"	"c.926G>T"	"r.?"	"p.(Gly309Val)"	"14"	"substitution"	"missense"	"Gly142Val"
"0000702316"	"00005458"	"99"	"935"	"0"	"935"	"0"	"c.935G>T"	"r.?"	"p.(Gly312Val)"	"14"	"substitution"	"missense"	"Gly145Val"
"0000702317"	"00005458"	"99"	"944"	"0"	"944"	"0"	"c.944G>C"	"r.?"	"p.(Gly315Ala)"	"14"	"substitution"	"missense"	"Gly148Ala"
"0000702318"	"00005458"	"99"	"951"	"0"	"951"	"14"	"c.951_951+14del"	"r.?"	"-"	"14"	"deletion"	"splicing affected?"	""
"0000702319"	"00005458"	"99"	"951"	"1"	"951"	"1"	"c.951+1G>A"	"r.?"	"-"	"14i"	"substitution"	"splicing affected?"	""
"0000702320"	"00005458"	"99"	"951"	"1"	"951"	"1"	"c.951+1G>A"	"r.?"	"-"	"14i"	"substitution"	"splicing affected?"	""
"0000702321"	"00005458"	"99"	"951"	"1"	"951"	"1"	"c.951+1G>A"	"r.?"	"-"	"14i"	"substitution"	"splicing affected?"	""
"0000702322"	"00005458"	"99"	"951"	"1"	"951"	"1"	"c.951+1G>A"	"r.?"	"-"	"14i"	"substitution"	"splicing affected?"	""
"0000702323"	"00005458"	"99"	"951"	"1"	"951"	"1"	"c.951+1G>A"	"r.?"	"-"	"14i"	"substitution"	"splicing affected?"	""
"0000702324"	"00005458"	"99"	"951"	"2"	"951"	"2"	"c.951+2T>A"	"r.?"	"-"	"14i"	"substitution"	"splicing affected?"	""
"0000702325"	"00005458"	"97"	"951"	"2"	"951"	"2"	"c.951+2T>A"	"r.?"	"-"	"14i"	"substitution"	"splicing affected?"	""
"0000702326"	"00005458"	"99"	"951"	"2"	"951"	"2"	"c.951+2T>C"	"r.?"	"-"	"14i"	"substitution"	"splicing affected?"	""
"0000702327"	"00005458"	"99"	"951"	"3"	"951"	"3"	"c.951+3G>T"	"r.?"	"-"	"14i"	"substitution"	"splicing affected?"	""
"0000702328"	"00005458"	"99"	"951"	"4"	"951"	"5"	"c.951+4_951+5del"	"r.spl?"	"p.?"	"14i"	"deletion"	"splicing affected?"	""
"0000702329"	"00005458"	"99"	"951"	"4"	"951"	"4"	"c.951+4A>G"	"r.?"	"-"	"14i"	"substitution"	"splicing affected?"	""
"0000702330"	"00005458"	"99"	"951"	"4"	"951"	"4"	"c.951+4A>T"	"r.?"	"-"	"14i"	"substitution"	"splicing affected?"	""
"0000702331"	"00005458"	"99"	"951"	"5"	"951"	"5"	"c.951+5G>A"	"r.?"	"-"	"14i"	"substitution"	"splicing affected?"	""
"0000702332"	"00005458"	"99"	"951"	"5"	"951"	"5"	"c.951+5G>A"	"r.?"	"-"	"14i"	"substitution"	"splicing affected?"	""
"0000702333"	"00005458"	"99"	"951"	"5"	"951"	"5"	"c.951+5G>C"	"r.?"	"-"	"14i"	"substitution"	"splicing affected?"	""
"0000702334"	"00005458"	"99"	"951"	"6"	"951"	"6"	"c.951+6T>A"	"r.?"	"-"	"14i"	"substitution"	"splicing affected?"	""
"0000702335"	"00005458"	"99"	"951"	"6"	"951"	"6"	"c.951+6T>A"	"r.?"	"-"	"14i"	"substitution"	"splicing affected?"	""
"0000702336"	"00005458"	"99"	"951"	"6"	"951"	"6"	"c.951+6T>A"	"r.?"	"-"	"14i"	"substitution"	"splicing affected?"	""
"0000702337"	"00005458"	"99"	"951"	"6"	"951"	"6"	"c.951+6T>C"	"r.?"	"-"	"14i"	"substitution"	"splicing affected?"	""
"0000702338"	"00005458"	"99"	"951"	"6"	"951"	"6"	"c.951+6T>C"	"r.?"	"-"	"14i"	"substitution"	"splicing affected?"	""
"0000702339"	"00005458"	"99"	"951"	"6"	"951"	"6"	"c.951+6T>C"	"r.?"	"-"	"14i"	"substitution"	"splicing affected?"	""
"0000702340"	"00005458"	"99"	"952"	"-106"	"996"	"45"	"c.952-106_996+45delinsGCTTAA"	"r.?"	"-"	"14i"	"delins"	"deletion, exon"	""
"0000702341"	"00005458"	"99"	"997"	"-2"	"997"	"-2"	"c.997-2A>G"	"r.?"	"-"	"14i"	"substitution"	"splicing affected?"	""
"0000702342"	"00005458"	"99"	"997"	"-2"	"997"	"-2"	"c.997-2A>G"	"r.?"	"-"	"14i"	"substitution"	"splicing affected?"	""
"0000702343"	"00005458"	"99"	"953"	"0"	"953"	"0"	"c.953G>A"	"r.?"	"p.(Gly318Asp)"	"15"	"substitution"	"missense"	"Gly151Asp"
"0000702344"	"00005458"	"99"	"955"	"0"	"974"	"0"	"c.955_974delinsTTTACATCGAGGGTTTTAAAGTTTACA"	"r.?"	"p.(Ala319Phefs*13)"	"15"	"delins"	"frameshift"	""
"0000702345"	"00005458"	"99"	"962"	"0"	"962"	"0"	"c.962G>A"	"r.?"	"p.(Gly321Asp)"	"15"	"substitution"	"missense"	"Gly154Asp"
"0000702346"	"00005458"	"99"	"962"	"0"	"962"	"0"	"c.962G>T"	"r.?"	"p.(Gly321Val)"	"15"	"substitution"	"missense"	"Gly154Val"
"0000702347"	"00005458"	"99"	"970"	"0"	"970"	"0"	"c.970G>A"	"r.?"	"p.(Gly324Ser)"	"15"	"substitution"	"missense"	"Gly157Ser"
"0000702348"	"00005458"	"79"	"970"	"0"	"970"	"0"	"c.970G>A"	"r.?"	"p.(Gly324Ser)"	"15"	"substitution"	"missense"	"Gly157Ser"
"0000702349"	"00005458"	"79"	"970"	"0"	"970"	"0"	"c.970G>A"	"r.?"	"p.(Gly324Ser)"	"15"	"substitution"	"missense"	"Gly157Ser"
"0000702350"	"00005458"	"99"	"970"	"0"	"970"	"0"	"c.970G>A"	"r.?"	"p.(Gly324Ser)"	"15"	"substitution"	"missense"	"Gly157Ser"
"0000702351"	"00005458"	"99"	"970"	"0"	"970"	"0"	"c.970G>A"	"r.?"	"p.(Gly324Ser)"	"15"	"substitution"	"missense"	"Gly157Ser"
"0000702352"	"00005458"	"99"	"970"	"0"	"970"	"0"	"c.970G>A"	"r.?"	"p.(Gly324Ser)"	"15"	"substitution"	"missense"	"Gly157Ser"
"0000702353"	"00005458"	"99"	"970"	"0"	"970"	"0"	"c.970G>A"	"r.?"	"p.(Gly324Ser)"	"15"	"substitution"	"missense"	"Gly157Ser"
"0000702354"	"00005458"	"99"	"970"	"0"	"970"	"0"	"c.970G>A"	"r.?"	"p.(Gly324Ser)"	"15"	"substitution"	"missense"	"Gly157Ser"
"0000702355"	"00005458"	"99"	"970"	"0"	"970"	"0"	"c.970G>A"	"r.?"	"p.(Gly324Ser)"	"15"	"substitution"	"missense"	"Gly157Ser"
"0000702356"	"00005458"	"79"	"970"	"0"	"970"	"0"	"c.970G>A"	"r.?"	"p.(Gly324Ser)"	"15"	"substitution"	"missense"	"Gly157Ser"
"0000702357"	"00005458"	"99"	"971"	"0"	"971"	"0"	"c.971G>A"	"r.?"	"p.(Gly324Asp)"	"15"	"substitution"	"missense"	"Gly157Asp"
"0000702358"	"00005458"	"11"	"973"	"0"	"973"	"0"	"c.973G>T"	"r.?"	"p.(Ala325Ser)"	"15"	"substitution"	"missense"	"Ala158Ser"
"0000702359"	"00005458"	"99"	"976"	"0"	"976"	"0"	"c.976C>T"	"r.?"	"p.(Arg326*)"	"15"	"substitution"	"nonsense"	"Arg159Ter"
"0000702360"	"00005458"	"33"	"977"	"0"	"977"	"0"	"c.977G>A"	"r.?"	"p.(Arg326Gln)"	"15"	"substitution"	"missense"	"Arg159Gln"
"0000702361"	"00005458"	"99"	"980"	"0"	"980"	"0"	"c.980G>A"	"r.?"	"p.(Gly327Asp)"	"15"	"substitution"	"missense"	"Gly160Asp"
"0000702362"	"00005458"	"99"	"980"	"0"	"980"	"0"	"c.980G>A"	"r.?"	"p.(Gly327Asp)"	"15"	"substitution"	"missense"	"Gly160Asp"
"0000702363"	"00005458"	"99"	"996"	"1"	"996"	"1"	"c.996+1G>A"	"r.?"	"-"	"15i"	"substitution"	"splicing affected?"	""
"0000702364"	"00005458"	"99"	"996"	"1"	"996"	"1"	"c.996+1G>A"	"r.?"	"-"	"15i"	"substitution"	"splicing affected?"	""
"0000702365"	"00005458"	"99"	"996"	"2"	"996"	"2"	"c.996+2T>A"	"r.?"	"-"	"15i"	"substitution"	"splicing affected?"	""
"0000702366"	"00005458"	"99"	"996"	"5"	"996"	"8"	"c.996+5_996+8del"	"r.?"	"-"	"15i"	"deletion"	"splicing affected?"	""
"0000702367"	"00005458"	"99"	"997"	"-10"	"997"	"-10"	"c.997-10A>G"	"r.?"	"-"	"15i"	"substitution"	"splicing affected?"	""
"0000702368"	"00005458"	"97"	"997"	"-1"	"997"	"-1"	"c.997-1G>A"	"r.?"	"-"	"15i"	"substitution"	"splicing affected?"	""
"0000702369"	"00005458"	"99"	"997"	"-1"	"997"	"-1"	"c.997-1G>C"	"r.?"	"-"	"15i"	"substitution"	"splicing affected?"	""
"0000702370"	"00005458"	"99"	"998"	"0"	"998"	"0"	"c.998G>A"	"r.?"	"p.(Gly333Asp)"	"16"	"substitution"	"missense"	"Gly166Asp"
"0000702371"	"00005458"	"99"	"998"	"0"	"998"	"0"	"c.998G>A"	"r.?"	"p.(Gly333Asp)"	"16"	"substitution"	"missense"	"Gly166Asp"
"0000702372"	"00005458"	"99"	"1033"	"0"	"1033"	"0"	"c.1033G>A"	"r.?"	"p.(Gly345Arg)"	"16"	"substitution"	"missense"	"Gly178Arg"
"0000702373"	"00005458"	"99"	"1033"	"0"	"1033"	"0"	"c.1033G>A"	"r.?"	"p.(Gly345Arg)"	"16"	"substitution"	"missense"	"Gly178Arg"
"0000702374"	"00005458"	"99"	"1050"	"1"	"1050"	"1"	"c.1050+1G>A"	"r.?"	"-"	"16i"	"substitution"	"splicing affected?"	""
"0000702375"	"00005458"	"99"	"1050"	"1"	"1050"	"1"	"c.1050+1G>A"	"r.?"	"-"	"16i"	"substitution"	"splicing affected?"	""
"0000702376"	"00005458"	"79"	"1050"	"1"	"1050"	"1"	"c.1050+1G>A"	"r.?"	"-"	"16i"	"substitution"	"splicing affected?"	""
"0000702377"	"00005458"	"99"	"1051"	"0"	"1051"	"0"	"c.1051G>C"	"r.?"	"p.(Gly351Arg)"	"17"	"substitution"	"missense"	"Gly184Arg"
"0000702378"	"00005458"	"99"	"1052"	"0"	"1052"	"0"	"c.1052G>T"	"r.?"	"p.(Gly351Val)"	"17"	"substitution"	"missense"	"Gly184Val"
"0000702379"	"00005458"	"99"	"1068"	"0"	"1069"	"0"	"c.1068_1069insGACCCTGCA"	"r.?"	"p.(Ala356_Gly357insDPA)"	"17"	"insertion"	"insertion"	""
"0000702380"	"00005458"	"99"	"1087"	"0"	"1087"	"0"	"c.1087G>A"	"r.?"	"p.(Gly363Ser)"	"17"	"substitution"	"missense"	"Gly196Ser"
"0000702381"	"00005458"	"99"	"1096"	"0"	"1096"	"0"	"c.1096G>A"	"r.?"	"p.(Gly366Arg)"	"17"	"substitution"	"missense"	"Gly199Arg"
"0000702382"	"00005458"	"99"	"1099"	"0"	"1116"	"0"	"c.1099_1116del"	"r.?"	"p.(Gln367_Gly372delQRGEPG)"	"17"	"deletion"	"deletion"	""
"0000702383"	"00005458"	"99"	"1105"	"-1107"	"1105"	"-1107"	"c.1105-1107del"	"r.?"	"p.(Gly369del)"	"17"	"deletion"	"deletion"	""
"0000702384"	"00005458"	"99"	"1106"	"0"	"1106"	"0"	"c.1106G>A"	"r.?"	"p.(Gly369Glu)"	"17"	"substitution"	"missense"	"Gly202Glu"
"0000702385"	"00005458"	"59"	"1106"	"0"	"1108"	"0"	"c.1106_1108del"	"r.?"	"p.(Gly369del)"	"17"	"deletion"	"deletion"	"Gly202del"
"0000702386"	"00005458"	"99"	"1106"	"0"	"1108"	"0"	"c.1106_1108del"	"r.?"	"p.(Gly369del)"	"17"	"deletion"	"deletion"	"Gly202del"
"0000702387"	"00005458"	"99"	"1115"	"0"	"1115"	"0"	"c.1115G>T"	"r.?"	"p.(Gly372Val)"	"17"	"substitution"	"missense"	"Gly205Val"
"0000702388"	"00005458"	"99"	"1124"	"0"	"1124"	"0"	"c.1124G>A"	"r.?"	"p.(Gly375Glu)"	"17"	"substitution"	"missense"	"Gly208Glu"
"0000702389"	"00005458"	"99"	"1133"	"0"	"1133"	"0"	"c.1133G>A"	"r.?"	"p.(Gly378Asp)"	"17"	"substitution"	"missense"	"Gly211Asp"
"0000702390"	"00005458"	"99"	"1142"	"0"	"1142"	"0"	"c.1142G>A"	"r.?"	"p.(Gly381Asp)"	"17"	"substitution"	"missense"	"Gly214Asp"
"0000702391"	"00005458"	"99"	"1149"	"1"	"1149"	"1"	"c.1149+1G>A"	"r.?"	"-"	"17i"	"substitution"	"splicing affected?"	""
"0000702392"	"00005458"	"99"	"1149"	"1"	"1149"	"1"	"c.1149+1G>A"	"r.?"	"-"	"17i"	"substitution"	"splicing affected?"	""
"0000702393"	"00005458"	"99"	"1149"	"1"	"1149"	"1"	"c.1149+1G>T"	"r.?"	"-"	"17i"	"substitution"	"splicing affected?"	""
"0000702394"	"00005458"	"99"	"1149"	"2"	"1149"	"2"	"c.1149+2T>C"	"r.?"	"-"	"17i"	"substitution"	"splicing affected?"	""
"0000702395"	"00005458"	"99"	"1149"	"2"	"1149"	"2"	"c.1149+2T>G"	"r.?"	"-"	"17i"	"substitution"	"splicing affected?"	""
"0000702396"	"00005458"	"99"	"1149"	"2"	"1149"	"3"	"c.1149+2_1149+3delinsAG"	"r.?"	"-"	"17i"	"delins"	"splicing affected?"	""
"0000702397"	"00005458"	"99"	"1149"	"5"	"1149"	"5"	"c.1149+5G>A"	"r.?"	"-"	"17i"	"substitution"	"splicing affected?"	""
"0000702398"	"00005458"	"97"	"1150"	"-6"	"1150"	"-2"	"c.1150-6_1150-2delinsTG"	"r.?"	"-"	"17i"	"delins"	"splicing affected?"	""
"0000702399"	"00005458"	"99"	"1150"	"-2"	"1150"	"-2"	"c.1150-2A>T"	"r.?"	"-"	"17i"	"substitution"	"splicing affected?"	""
"0000702400"	"00005458"	"99"	"1150"	"-1"	"1150"	"-1"	"c.1150-1G>C"	"r.?"	"p.(Pro385_Gly399del)"	"17i"	"substitution"	"splicing affected?"	""
"0000702401"	"00005458"	"99"	"1150"	"-1"	"1166"	"0"	"c.1150-1_1166delins41"	"r.?"	"p.(Pro385_Gly399del)"	"17i"	"delins"	"splicing affected?"	""
"0000702402"	"00005458"	"99"	"1151"	"0"	"1151"	"0"	"c.1151G>A"	"r.?"	"p.(Gly384Asp)"	"18"	"substitution"	"missense"	"Gly217Asp"
"0000702403"	"00005458"	"99"	"1159"	"0"	"1159"	"0"	"c.1159G>T"	"r.?"	"p.(Gly387Trp)"	"18"	"substitution"	"missense"	"Gly220Trp"
"0000702404"	"00005458"	"37"	"1165"	"0"	"1165"	"0"	"c.1165A>T"	"r.?"	"p.(Asn389Tyr)"	"18"	"substitution"	"missense"	"Asn222Tyr"
"0000702405"	"00005458"	"37"	"1165"	"0"	"1165"	"0"	"c.1165A>T"	"r.?"	"p.(Asn389Tyr)"	"18"	"substitution"	"missense"	"Asn222Tyr"
"0000702406"	"00005458"	"99"	"1177"	"0"	"1177"	"0"	"c.1177G>A"	"r.?"	"p.(Gly393Ser)"	"18"	"substitution"	"missense"	"Gly226Ser"
"0000702407"	"00005458"	"79"	"1178"	"0"	"1178"	"0"	"c.1178G>A"	"r.?"	"p.(Gly393Asp)"	"18"	"substitution"	"missense"	"Gly226Asp"
"0000702408"	"00005458"	"99"	"1187"	"0"	"1187"	"0"	"c.1187G>T"	"r.?"	"p.(Gly396Val)"	"18"	"substitution"	"missense"	"Gly229Val"
"0000702409"	"00005458"	"99"	"1189"	"0"	"1194"	"23"	"c.1189_1194+23del"	"r.?"	"-"	"18"	"deletion"	"splicing affected?"	""
"0000702410"	"00005458"	"99"	"1194"	"1"	"1194"	"1"	"c.1194+1G>A"	"r.?"	"-"	"18i"	"substitution"	"splicing affected?"	""
"0000702411"	"00005458"	"99"	"1194"	"1"	"1194"	"1"	"c.1194+1G>A"	"r.?"	"-"	"18i"	"substitution"	"splicing affected?"	""
"0000702412"	"00005458"	"99"	"1194"	"1"	"1194"	"1"	"c.1194+1G>A"	"r.?"	"-"	"18i"	"substitution"	"splicing affected?"	""
"0000702413"	"00005458"	"99"	"1194"	"1"	"1194"	"1"	"c.1194+1G>C"	"r.?"	"-"	"18i"	"substitution"	"splicing affected?"	""
"0000702414"	"00005458"	"97"	"1194"	"2"	"1194"	"2"	"c.1194+2T>A"	"r.?"	"-"	"18i"	"substitution"	"splicing affected?"	""
"0000702415"	"00005458"	"11"	"1201"	"0"	"1201"	"0"	"c.1201G>A"	"r.?"	"p.(Ala401Thr)"	"19"	"substitution"	"missense"	"Ala234Thr"
"0000702416"	"00005458"	"79"	"1204"	"0"	"1204"	"0"	"c.1204G>A"	"r.?"	"p.(Gly402Ser)"	"19"	"substitution"	"missense"	"Gly235Ser"
"0000702417"	"00005458"	"99"	"1223"	"0"	"1223"	"0"	"c.1223G>A"	"r.?"	"p.(Gly408Glu)"	"19"	"substitution"	"missense"	"Gly241Glu"
"0000702418"	"00005458"	"99"	"1231"	"0"	"1231"	"0"	"c.1231G>C"	"r.?"	"p.(Gly411Arg)"	"19"	"substitution"	"missense"	"Gly244Arg"
"0000702419"	"00005458"	"99"	"1240"	"0"	"1240"	"0"	"c.1240G>T"	"r.?"	"p.(Gly414Cys)"	"19"	"substitution"	"missense"	"Gly247Cys"
"0000702420"	"00005458"	"99"	"1241"	"0"	"1241"	"0"	"c.1241G>T"	"r.?"	"p.(Gly414Val)"	"19"	"substitution"	"missense"	"Gly247Val"
"0000702421"	"00005458"	"79"	"1241"	"0"	"1241"	"0"	"c.1241G>T"	"r.?"	"p.(Gly414Val)"	"19"	"substitution"	"missense"	"Gly247Val"
"0000702422"	"00005458"	"99"	"1249"	"0"	"1249"	"0"	"c.1249G>A"	"r.?"	"p.(Gly417Arg)"	"19"	"substitution"	"missense"	"Gly250Arg"
"0000702423"	"00005458"	"99"	"1250"	"0"	"1250"	"0"	"c.1250G>A"	"r.?"	"p.(Gly417Glu)"	"19"	"substitution"	"missense"	"Gly250Glu"
"0000702424"	"00005458"	"11"	"1257"	"0"	"1257"	"0"	"c.1257C>T"	"r.?"	"p.(=)"	"19"	"substitution"	"silent"	""
"0000702425"	"00005458"	"99"	"1258"	"0"	"1258"	"0"	"c.1258G>A"	"r.?"	"p.(Gly420Ser)"	"19"	"substitution"	"missense"	"Gly253Ser"
"0000702426"	"00005458"	"99"	"1258"	"0"	"1258"	"0"	"c.1258G>A"	"r.?"	"p.(Gly420Ser)"	"19"	"substitution"	"missense"	"Gly253Ser"
"0000702427"	"00005458"	"99"	"1258"	"0"	"1258"	"0"	"c.1258G>A"	"r.?"	"p.(Gly420Ser)"	"19"	"substitution"	"missense"	"Gly253Ser"
"0000702428"	"00005458"	"71"	"1258"	"0"	"1258"	"0"	"c.1258G>A"	"r.?"	"p.(Gly420Ser)"	"19"	"substitution"	"missense"	"Gly253Ser"
"0000702429"	"00005458"	"19"	"1258"	"0"	"1258"	"0"	"c.1258G>C"	"r.?"	"p.(Gly420Arg)"	"19"	"substitution"	"missense"	"Gly253Arg"
"0000702430"	"00005458"	"99"	"1267"	"0"	"1267"	"0"	"c.1267G>A"	"r.?"	"p.(Gly423Ser)"	"19"	"substitution"	"missense"	"Gly256Ser"
"0000702431"	"00005458"	"99"	"1268"	"0"	"1268"	"0"	"c.1268G>A"	"r.?"	"p.(Gly423Asp)"	"19"	"substitution"	"missense"	"Gly256Asp"
"0000702432"	"00005458"	"75"	"1282"	"0"	"1282"	"0"	"c.1282C>T"	"r.?"	"p.(Arg428*)"	"19"	"substitution"	"nonsense"	"Arg261*"
"0000702433"	"00005458"	"97"	"1293"	"2"	"1293"	"2"	"c.1293+2dup"	"r.?"	"-"	"19i"	"duplication"	"splicing affected?"	""
"0000702434"	"00005458"	"99"	"1294"	"-3"	"1294"	"-3"	"c.1294-3T>G"	"r.?"	"p.(Glu433_Gly450del)"	"19i"	"substitution"	"splicing affected?"	""
"0000702435"	"00005458"	"99"	"1294"	"-2"	"1294"	"-2"	"c.1294-2A>G"	"r.?"	"-"	"19i"	"substitution"	"splicing affected?"	""
"0000702436"	"00005458"	"99"	"1304"	"0"	"1304"	"0"	"c.1304G>A"	"r.?"	"p.(Gly435Asp)"	"20"	"substitution"	"missense"	"Gly268Asp"
"0000702437"	"00005458"	"99"	"1304"	"0"	"1304"	"0"	"c.1304G>A"	"r.?"	"p.(Gly435Asp)"	"20"	"substitution"	"missense"	"Gly268Asp"
"0000702438"	"00005458"	"97"	"1322"	"0"	"1322"	"0"	"c.1322del"	"r.?"	"p.(Gly441Glufs*95)"	"20"	"deletion"	"frameshift"	""
"0000702439"	"00005458"	"99"	"1330"	"0"	"1330"	"0"	"c.1330G>A"	"r.?"	"p.(Gly444Arg)"	"20"	"substitution"	"missense"	"Gly277Arg"
"0000702440"	"00005458"	"99"	"1330"	"0"	"1330"	"0"	"c.1330G>A"	"r.?"	"p.(Gly444Arg)"	"20"	"substitution"	"missense"	"Gly277Arg"
"0000702441"	"00005458"	"99"	"1330"	"0"	"1330"	"0"	"c.1330G>A"	"r.?"	"p.(Gly444Arg)"	"20"	"substitution"	"missense"	"Gly277Arg"
"0000702442"	"00005458"	"99"	"1330"	"0"	"1330"	"0"	"c.1330G>A"	"r.?"	"p.(Gly444Arg)"	"20"	"substitution"	"missense"	"Gly277Arg"
"0000702443"	"00005458"	"99"	"1330"	"0"	"1330"	"0"	"c.1330G>A"	"r.?"	"p.(Gly444Arg)"	"20"	"substitution"	"missense"	"Gly277Arg"
"0000702444"	"00005458"	"99"	"1330"	"0"	"1330"	"0"	"c.1330G>A"	"r.?"	"p.(Gly444Arg)"	"20"	"substitution"	"missense"	"Gly277Arg"
"0000702445"	"00005458"	"99"	"1330"	"0"	"1330"	"0"	"c.1330G>A"	"r.?"	"p.(Gly444Arg)"	"20"	"substitution"	"missense"	"Gly277Arg"
"0000702446"	"00005458"	"99"	"1330"	"0"	"1330"	"0"	"c.1330G>C"	"r.?"	"p.(Gly444Arg)"	"20"	"substitution"	"missense"	"Gly277Arg"
"0000702447"	"00005458"	"97"	"1347"	"1"	"1347"	"1"	"c.1347+1del"	"r.?"	"-"	"20i"	"deletion"	"splicing affected?"	""
"0000702448"	"00005458"	"99"	"1347"	"1"	"1347"	"1"	"c.1347+1G>A"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702449"	"00005458"	"99"	"1347"	"1"	"1347"	"1"	"c.1347+1G>A"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702450"	"00005458"	"99"	"1347"	"1"	"1347"	"1"	"c.1347+1G>A"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702451"	"00005458"	"99"	"1347"	"1"	"1347"	"1"	"c.1347+1G>A"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702452"	"00005458"	"99"	"1347"	"1"	"1347"	"1"	"c.1347+1G>A"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702453"	"00005458"	"99"	"1347"	"1"	"1347"	"1"	"c.1347+1G>A"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702454"	"00005458"	"99"	"1347"	"1"	"1347"	"1"	"c.1347+1G>A"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702455"	"00005458"	"99"	"1347"	"1"	"1347"	"1"	"c.1347+1G>A"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702456"	"00005458"	"99"	"1347"	"1"	"1347"	"1"	"c.1347+1G>A"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702457"	"00005458"	"99"	"1347"	"1"	"1347"	"1"	"c.1347+1G>A"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702458"	"00005458"	"99"	"1347"	"1"	"1347"	"1"	"c.1347+1G>A"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702459"	"00005458"	"99"	"1347"	"1"	"1347"	"1"	"c.1347+1G>A"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702460"	"00005458"	"99"	"1347"	"1"	"1347"	"1"	"c.1347+1G>A"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702461"	"00005458"	"99"	"1347"	"1"	"1347"	"1"	"c.1347+1G>A"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702462"	"00005458"	"99"	"1347"	"1"	"1347"	"1"	"c.1347+1G>A"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702463"	"00005458"	"97"	"1347"	"1"	"1347"	"1"	"c.1347+1G>A"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702464"	"00005458"	"79"	"1347"	"1"	"1347"	"1"	"c.1347+1G>A"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702465"	"00005458"	"79"	"1347"	"1"	"1347"	"1"	"c.1347+1G>A"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702466"	"00005458"	"99"	"1347"	"1"	"1347"	"1"	"c.1347+1G>C"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702467"	"00005458"	"99"	"1347"	"1"	"1347"	"1"	"c.1347+1G>T"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702468"	"00005458"	"99"	"1347"	"3"	"1347"	"3"	"c.1347+3A>C"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702469"	"00005458"	"99"	"1347"	"5"	"1347"	"5"	"c.1347+5G>C"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702470"	"00005458"	"55"	"1348"	"-28"	"1348"	"-28"	"c.1348-28T>G"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702471"	"00005458"	"97"	"1348"	"-2"	"1348"	"-2"	"c.1348-2A>G"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702472"	"00005458"	"75"	"1348"	"-2"	"1348"	"-2"	"c.1348-2A>G"	"r.?"	"-"	"20i"	"substitution"	"splicing affected?"	""
"0000702473"	"00005458"	"99"	"1349"	"0"	"1349"	"0"	"c.1349G>T"	"r.?"	"p.(Gly450Val)"	"21"	"substitution"	"missense"	"Gly283Val"
"0000702474"	"00005458"	"99"	"1358"	"0"	"1358"	"0"	"c.1358G>A"	"r.?"	"p.(Gly453Asp)"	"21"	"substitution"	"missense"	"Gly286Asp"
"0000702475"	"00005458"	"99"	"1358"	"0"	"1358"	"0"	"c.1358G>A"	"r.?"	"p.(Gly453Asp)"	"21"	"substitution"	"missense"	"Gly286Asp"
"0000702476"	"00005458"	"99"	"1358"	"0"	"1358"	"0"	"c.1358G>A"	"r.?"	"p.(Gly453Asp)"	"21"	"substitution"	"missense"	"Gly286Asp"
"0000702477"	"00005458"	"99"	"1384"	"0"	"1384"	"0"	"c.1384G>A"	"r.?"	"p.(Gly462Ser)"	"21"	"substitution"	"missense"	"Gly295Ser"
"0000702478"	"00005458"	"99"	"1410"	"0"	"1410"	"0"	"c.1410del"	"r.?"	"p.(Gly471Glufs*65)"	"21"	"deletion"	"frameshift"	""
"0000702479"	"00005458"	"97"	"1444"	"0"	"1444"	"0"	"c.1444G>T"	"r.?"	"p.(Ala482Ser)"	"21"	"substitution"	"missense"	"Ala315Ser"
"0000702480"	"00005458"	"75"	"1455"	"1"	"1455"	"1"	"c.1455+1G>T"	"r.?"	"-"	"21i"	"substitution"	"splicing affected?"	""
"0000702481"	"00005458"	"99"	"1456"	"-82"	"1977"	"177"	"c.1456-82_1977+177del"	"r.(?)"	"p.(Ala487_Gly660del)"	"21i"	"deletion"	"deletion, multi exon"	""
"0000702482"	"00005458"	"99"	"1456"	"-13"	"1499"	"0"	"c.1456-13_1499del"	"r.?"	"p.(Ala487_Gly504del)"	"21i"	"deletion"	"splicing affected?"	""
"0000702483"	"00005458"	"99"	"1456"	"-10"	"1456"	"-10"	"c.1456-10T>G"	"r.?"	"-"	"21i"	"substitution"	"splicing affected?"	""
"0000702484"	"00005458"	"99"	"1457"	"0"	"1457"	"0"	"c.1457G>T"	"r.?"	"p.(Gly486Val)"	"22"	"substitution"	"missense"	"Gly319Val"
"0000702485"	"00005458"	"99"	"1466"	"0"	"1466"	"0"	"c.1466G>A"	"r.?"	"p.(Gly489Glu)"	"22"	"substitution"	"missense"	"Gly322Glu"
"0000702486"	"00005458"	"99"	"1466"	"0"	"1466"	"0"	"c.1466G>A"	"r.?"	"p.(Gly489Glu)"	"22"	"substitution"	"missense"	"Gly322Glu"
"0000702487"	"00005458"	"99"	"1466"	"0"	"1466"	"0"	"c.1466G>T"	"r.?"	"p.(Gly489Val)"	"22"	"substitution"	"missense"	"Gly322Val"
"0000702488"	"00005458"	"99"	"1466"	"0"	"1466"	"0"	"c.1466G>T"	"r.?"	"p.(Gly489Val)"	"22"	"substitution"	"missense"	"Gly322Val"
"0000702489"	"00005458"	"99"	"1471"	"0"	"1471"	"0"	"c.1471C>T"	"r.?"	"p.(Arg491*)"	"22"	"substitution"	"nonsense"	"Arg324Ter"
"0000702490"	"00005458"	"55"	"1472"	"0"	"1472"	"0"	"c.1472G>A"	"r.?"	"p.(Arg491Gln)"	"22"	"substitution"	"missense"	"Arg324Gln"
"0000702491"	"00005458"	"99"	"1474"	"0"	"1474"	"0"	"c.1474G>A"	"r.?"	"p.(Gly492Arg)"	"22"	"substitution"	"missense"	"Gly325Arg"
"0000702492"	"00005458"	"99"	"1475"	"0"	"1475"	"0"	"c.1475G>A"	"r.?"	"p.(Gly492Glu)"	"22"	"substitution"	"missense"	"Gly325Glu"
"0000702493"	"00005458"	"99"	"1475"	"0"	"1475"	"0"	"c.1475G>T"	"r.?"	"p.(Gly492Val)"	"22"	"substitution"	"missense"	"Gly325Val"
"0000702494"	"00005458"	"79"	"1493"	"0"	"1493"	"0"	"c.1493G>A"	"r.?"	"p.(Gly498Asp)"	"22"	"substitution"	"missense"	"Gly331Asp"
"0000702495"	"00005458"	"99"	"1501"	"0"	"1501"	"0"	"c.1501G>A"	"r.?"	"p.(Gly501Arg)"	"22"	"substitution"	"missense"	"Gly334Arg"
"0000702496"	"00005458"	"99"	"1501"	"0"	"1501"	"0"	"c.1501G>A"	"r.?"	"p.(Gly501Arg)"	"22"	"substitution"	"missense"	"Gly334Arg"
"0000702497"	"00005458"	"99"	"1501"	"0"	"1501"	"0"	"c.1501G>A"	"r.?"	"p.(Gly501Arg)"	"22"	"substitution"	"missense"	"Gly334Arg"
"0000702498"	"00005458"	"99"	"1502"	"0"	"1502"	"0"	"c.1502G>C"	"r.?"	"p.(Gly501Ala)"	"22"	"substitution"	"missense"	"Gly334Ala"
"0000702499"	"00005458"	"99"	"1509"	"224"	"1510"	"-71"	"c.1509+224_1510-71delinsNM_000090.3:c.799-118_852+62"	"r.?"	"p.(Lys503_Gly504insGFDGRNGEKGETGAPGLK)"	"22i"	"delins"	"insertion"	""
"0000702500"	"00005458"	"99"	"1511"	"0"	"1511"	"0"	"c.1511G>A"	"r.?"	"p.(Gly504Asp)"	"23"	"substitution"	"missense"	"Gly337Asp"
"0000702501"	"00005458"	"99"	"1511"	"0"	"1511"	"0"	"c.1511G>A"	"r.?"	"p.(Gly504Asp)"	"23"	"substitution"	"missense"	"Gly337Asp"
"0000702502"	"00005458"	"99"	"1511"	"0"	"1511"	"0"	"c.1511G>T"	"r.?"	"p.(Gly504Val)"	"23"	"substitution"	"missense"	"Gly337Val"
"0000702503"	"00005458"	"99"	"1511"	"0"	"1511"	"0"	"c.1511G>T"	"r.?"	"p.(Gly504Val)"	"23"	"substitution"	"missense"	"Gly337Val"
"0000702504"	"00005458"	"99"	"1538"	"0"	"1577"	"0"	"c.1538_1577del"	"r.?"	"p.(Gly513Glufs*10)"	"23"	"deletion"	"frameshift"	""
"0000702505"	"00005458"	"99"	"1546"	"0"	"1546"	"0"	"c.1546G>C"	"r.?"	"p.(Gly516Arg)"	"23"	"substitution"	"missense"	"Gly349Arg"
"0000702506"	"00005458"	"77"	"1549"	"0"	"1549"	"0"	"c.1549C>G"	"r.?"	"p.(Pro517Ala)"	"23"	"substitution"	"missense"	"Pro350Ala"
"0000702507"	"00005458"	"33"	"1550"	"0"	"1550"	"0"	"c.1550C>T"	"r.?"	"p.(Pro517Leu)"	"23"	"substitution"	"missense"	"Pro350Leu"
"0000702508"	"00005458"	"99"	"1555"	"0"	"1556"	"0"	"c.1555_1556delinsTT"	"r.?"	"p.(Gly519Leu)"	"23"	"delins"	"missense"	"Gly352Leu"
"0000702509"	"00005458"	"99"	"1556"	"0"	"1556"	"0"	"c.1556G>A"	"r.?"	"p.(Gly519Glu)"	"23"	"substitution"	"missense"	"Gly352Glu"
"0000702510"	"00005458"	"99"	"1556"	"0"	"1556"	"0"	"c.1556G>A"	"r.?"	"p.(Gly519Glu)"	"23"	"substitution"	"missense"	"Gly352Glu"
"0000702511"	"00005458"	"77"	"1597"	"0"	"1597"	"0"	"c.1597C>G"	"r.?"	"p.(Pro533Ala)"	"23"	"substitution"	"missense"	"Pro366Ala"
"0000702512"	"00005458"	"59"	"1601"	"0"	"1601"	"0"	"c.1601G>A"	"r.?"	"p.(Gly534Glu)"	"23"	"substitution"	"missense"	"Gly367Glu"
"0000702513"	"00005458"	"99"	"1609"	"-8"	"1619"	"0"	"c.1609-8_1619del"	"r.?"	"-"	"23i"	"deletion"	"splicing affected?"	""
"0000702514"	"00005458"	"99"	"1610"	"0"	"1610"	"0"	"c.1610del"	"r.?"	"p.(Gly537Alafs*254)"	"24"	"deletion"	"frameshift"	""
"0000702515"	"00005458"	"99"	"1618"	"0"	"1618"	"0"	"c.1618G>A"	"r.?"	"p.(Gly540Arg)"	"24"	"substitution"	"missense"	"Gly373Arg"
"0000702516"	"00005458"	"99"	"1618"	"0"	"1618"	"0"	"c.1618G>A"	"r.?"	"p.(Gly540Arg)"	"24"	"substitution"	"missense"	"Gly373Arg"
"0000702517"	"00005458"	"99"	"1618"	"0"	"1618"	"0"	"c.1618G>A"	"r.?"	"p.(Gly540Arg)"	"24"	"substitution"	"missense"	"Gly373Arg"
"0000702518"	"00005458"	"99"	"1618"	"0"	"1618"	"0"	"c.1618G>A"	"r.?"	"p.(Gly540Arg)"	"24"	"substitution"	"missense"	"Gly373Arg"
"0000702519"	"00005458"	"99"	"1618"	"0"	"1618"	"0"	"c.1618G>A"	"r.?"	"p.(Gly540Arg)"	"24"	"substitution"	"missense"	"Gly373Arg"
"0000702520"	"00005458"	"99"	"1618"	"0"	"1618"	"0"	"c.1618G>A"	"r.?"	"p.(Gly540Arg)"	"24"	"substitution"	"missense"	"Gly373Arg"
"0000702521"	"00005458"	"99"	"1618"	"0"	"1618"	"0"	"c.1618G>A"	"r.?"	"p.(Gly540Arg)"	"24"	"substitution"	"missense"	"Gly373Arg"
"0000702522"	"00005458"	"99"	"1618"	"0"	"1618"	"0"	"c.1618G>A"	"r.?"	"p.(Gly540Arg)"	"24"	"substitution"	"missense"	"Gly373Arg"
"0000702523"	"00005458"	"99"	"1618"	"0"	"1618"	"0"	"c.1618G>A"	"r.?"	"p.(Gly540Arg)"	"24"	"substitution"	"missense"	"Gly373Arg"
"0000702524"	"00005458"	"99"	"1618"	"0"	"1618"	"0"	"c.1618G>A"	"r.?"	"p.(Gly540Arg)"	"24"	"substitution"	"missense"	"Gly373Arg"
"0000702525"	"00005458"	"99"	"1618"	"0"	"1618"	"0"	"c.1618G>A"	"r.?"	"p.(Gly540Arg)"	"24"	"substitution"	"missense"	"Gly373Arg"
"0000702526"	"00005458"	"99"	"1646"	"0"	"1646"	"0"	"c.1646G>A"	"r.?"	"p.(Gly549Glu)"	"24"	"substitution"	"missense"	"Gly382Glu"
"0000702527"	"00005458"	"99"	"1654"	"0"	"1654"	"0"	"c.1654G>C"	"r.?"	"p.(Gly552Arg)"	"24"	"substitution"	"missense"	"Gly385Arg"
"0000702528"	"00005458"	"99"	"1655"	"0"	"1655"	"0"	"c.1655G>A"	"r.?"	"p.(Gly552Glu)"	"24"	"substitution"	"missense"	"Gly385Glu"
"0000702529"	"00005458"	"99"	"1655"	"0"	"1655"	"0"	"c.1655G>A"	"r.?"	"p.(Gly552Glu)"	"24"	"substitution"	"missense"	"Gly385Glu"
"0000702530"	"00005458"	"99"	"1655"	"0"	"1655"	"0"	"c.1655G>A"	"r.?"	"p.(Gly552Glu)"	"24"	"substitution"	"missense"	"Gly385Glu"
"0000702531"	"00005458"	"11"	"1659"	"0"	"1659"	"0"	"c.1659T>A"	"r.?"	"p.(=)"	"24"	"substitution"	"silent"	""
"0000702532"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702533"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702534"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702535"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702536"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702537"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702538"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702539"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702540"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702541"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702542"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702543"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702544"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702545"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702546"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702547"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702548"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702549"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702550"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702551"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702552"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702553"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702554"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702555"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702556"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702557"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702558"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702559"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702560"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702561"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702562"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702563"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702564"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702565"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702566"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702567"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702568"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702569"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702570"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702571"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702572"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702573"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702574"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702575"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702576"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702577"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702578"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702579"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702580"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702581"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702582"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702583"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702584"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>C"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702585"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>C"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702586"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>C"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702587"	"00005458"	"99"	"1662"	"1"	"1662"	"1"	"c.1662+1G>T"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702588"	"00005458"	"99"	"1662"	"2"	"1662"	"2"	"c.1662+2dup"	"r.?"	"-"	"24i"	"duplication"	"splicing affected?"	""
"0000702589"	"00005458"	"99"	"1662"	"2"	"1662"	"2"	"c.1662+2T>G"	"r.?"	"-"	"24i"	"substitution"	"splicing affected?"	""
"0000702590"	"00005458"	"99"	"1672"	"0"	"1672"	"0"	"c.1672G>C"	"r.?"	"p.(Gly558Arg)"	"25"	"substitution"	"missense"	"Gly391Arg"
"0000702591"	"00005458"	"79"	"1684"	"0"	"1684"	"0"	"c.1684C>T"	"r.?"	"p.(Arg562*)"	"25"	"substitution"	"nonsense"	"Arg395*"
"0000702592"	"00005458"	"99"	"1691"	"0"	"1691"	"0"	"c.1691G>A"	"r.?"	"p.(Gly564Asp)"	"25"	"substitution"	"missense"	"Gly397Asp"
"0000702593"	"00005458"	"99"	"1700"	"0"	"1700"	"0"	"c.1700G>A"	"r.?"	"p.(Gly567Glu)"	"25"	"substitution"	"missense"	"Gly400Glu"
"0000702594"	"00005458"	"99"	"1700"	"0"	"1700"	"0"	"c.1700G>A"	"r.?"	"p.(Gly567Glu)"	"25"	"substitution"	"missense"	"Gly400Glu"
"0000702595"	"00005458"	"99"	"1701"	"0"	"2391"	"367"	"c.1701_2391+367del"	"r.?"	"p.(Gly555_Pro797del)"	"25"	"deletion"	"deletion, multi exon"	""
"0000702596"	"00005458"	"97"	"1714"	"0"	"1714"	"0"	"c.1714C>T"	"r.?"	"p.(Arg572*)"	"25"	"substitution"	"nonsense"	"Arg405*"
"0000702597"	"00005458"	"97"	"1714"	"0"	"1714"	"0"	"c.1714C>T"	"r.?"	"p.(Arg572*)"	"25"	"substitution"	"nonsense"	"Arg405*"
"0000702598"	"00005458"	"99"	"1718"	"0"	"1718"	"0"	"c.1718G>A"	"r.?"	"p.(Gly573Asp)"	"25"	"substitution"	"missense"	"Gly406Asp"
"0000702599"	"00005458"	"99"	"1744"	"0"	"1744"	"0"	"c.1744G>A"	"r.?"	"p.(Gly582Ser)"	"25"	"substitution"	"missense"	"Gly415Ser"
"0000702600"	"00005458"	"99"	"1744"	"0"	"1744"	"0"	"c.1744G>A"	"r.?"	"p.(Gly582Ser)"	"25"	"substitution"	"missense"	"Gly415Ser"
"0000702601"	"00005458"	"99"	"1744"	"0"	"1744"	"0"	"c.1744G>A"	"r.?"	"p.(Gly582Ser)"	"25"	"substitution"	"missense"	"Gly415Ser"
"0000702602"	"00005458"	"99"	"1744"	"0"	"1744"	"0"	"c.1744G>A"	"r.?"	"p.(Gly582Ser)"	"25"	"substitution"	"missense"	"Gly415Ser"
"0000702603"	"00005458"	"99"	"1744"	"0"	"1744"	"0"	"c.1744G>A"	"r.?"	"p.(Gly582Ser)"	"25"	"substitution"	"missense"	"Gly415Ser"
"0000702604"	"00005458"	"99"	"1744"	"0"	"1744"	"0"	"c.1744G>A"	"r.?"	"p.(Gly582Ser)"	"25"	"substitution"	"missense"	"Gly415Ser"
"0000702605"	"00005458"	"99"	"1744"	"0"	"1744"	"0"	"c.1744G>A"	"r.?"	"p.(Gly582Ser)"	"25"	"substitution"	"missense"	"Gly415Ser"
"0000702606"	"00005458"	"97"	"1744"	"0"	"1744"	"0"	"c.1744G>C"	"r.?"	"p.(Gly582Arg)"	"25"	"substitution"	"missense"	"Gly415Arg"
"0000702607"	"00005458"	"99"	"1744"	"0"	"1744"	"0"	"c.1744G>C"	"r.?"	"p.(Gly582Arg)"	"25"	"substitution"	"missense"	"Gly415Arg"
"0000702608"	"00005458"	"99"	"1744"	"0"	"1744"	"0"	"c.1744G>C"	"r.?"	"p.(Gly582Arg)"	"25"	"substitution"	"missense"	"Gly415Arg"
"0000702609"	"00005458"	"79"	"1761"	"1"	"1761"	"1"	"c.1761+1G>A"	"r.?"	"-"	"25i"	"substitution"	"splicing affected?"	""
"0000702610"	"00005458"	"99"	"1761"	"1"	"1761"	"1"	"c.1761+1G>A"	"r.?"	"-"	"25i"	"substitution"	"splicing affected?"	""
"0000702611"	"00005458"	"99"	"1761"	"1"	"1761"	"1"	"c.1761+1G>A"	"r.?"	"-"	"25i"	"substitution"	"splicing affected?"	""
"0000702612"	"00005458"	"97"	"1761"	"1"	"1761"	"1"	"c.1761+1G>A"	"r.?"	"-"	"25i"	"substitution"	"splicing affected?"	""
"0000702613"	"00005458"	"99"	"1761"	"2"	"1761"	"2"	"c.1761+2T>C"	"r.?"	"-"	"25i"	"substitution"	"splicing affected?"	""
"0000702614"	"00005458"	"99"	"1761"	"2"	"1761"	"2"	"c.1761+2T>G"	"r.?"	"-"	"25i"	"substitution"	"splicing affected?"	""
"0000702615"	"00005458"	"99"	"1761"	"4"	"1761"	"4"	"c.1761+4A>T"	"r.?"	"-"	"25i"	"substitution"	"splicing affected?"	""
"0000702616"	"00005458"	"99"	"1761"	"4"	"1761"	"5"	"c.1761+4_1761+5del"	"r.spl?"	"-"	"25i"	"deletion"	"splicing affected?"	""
"0000702617"	"00005458"	"99"	"1761"	"5"	"1761"	"5"	"c.1761+5G>A"	"r.?"	"-"	"25i"	"substitution"	"splicing affected?"	""
"0000702618"	"00005458"	"99"	"1761"	"5"	"1761"	"5"	"c.1761+5G>T"	"r.?"	"-"	"25i"	"substitution"	"splicing affected?"	""
"0000702619"	"00005458"	"55"	"1761"	"7"	"1761"	"7"	"c.1761+7T>A"	"r.?"	"-"	"25i"	"substitution"	"splicing affected?"	""
"0000702620"	"00005458"	"99"	"1761"	"15"	"1870"	"-100"	"c.1761+15_1870-100del"	"r.1762_1869del"	"p.(Ala589_Gly624del)"	"25i"	"deletion"	"deletion, multi exon"	""
"0000702621"	"00005458"	"99"	"1762"	"-2"	"1762"	"-2"	"c.1762-2A>G"	"r.?"	"-"	"25i"	"substitution"	"splicing affected?"	""
"0000702622"	"00005458"	"99"	"1762"	"-2"	"1762"	"-2"	"c.1762-2A>G"	"r.?"	"-"	"25i"	"substitution"	"splicing affected?"	""
"0000702623"	"00005458"	"99"	"1762"	"-2"	"1762"	"-2"	"c.1762-2A>G"	"r.?"	"-"	"25i"	"substitution"	"splicing affected?"	""
"0000702624"	"00005458"	"99"	"1763"	"0"	"1763"	"0"	"c.1763G>A"	"r.?"	"p.(Gly588Asp)"	"26"	"substitution"	"missense"	"Gly421Asp"
"0000702625"	"00005458"	"99"	"1763"	"0"	"1763"	"0"	"c.1763G>A"	"r.?"	"p.(Gly588Asp)"	"26"	"substitution"	"missense"	"Gly421Asp"
"0000702626"	"00005458"	"99"	"1763"	"0"	"1763"	"0"	"c.1763G>T"	"r.?"	"p.(Gly588Val)"	"26"	"substitution"	"missense"	"Gly421Val"
"0000702627"	"00005458"	"59"	"1763"	"0"	"1769"	"0"	"c.1763_1769delinsTAAG"	"r.?"	"p.(Gly588_Pro590delinsValSer)"	"26"	"delins"	"delins"	"Gly421_Pro423delinsValSer"
"0000702628"	"00005458"	"99"	"1763"	"0"	"1769"	"0"	"c.1763_1769delinsTAAG"	"r.?"	"p.(Gly588_Pro590delinsValSer)"	"26"	"delins"	"delins"	"Gly421_Pro423delinsValSer"
"0000702629"	"00005458"	"59"	"1764"	"0"	"1871"	"0"	"c.1764_1871del"	"r.?"	"p.(Ala589_Gly624del)"	"26"	"deletion"	"deletion"	""
"0000702630"	"00005458"	"99"	"1771"	"0"	"1771"	"0"	"c.1771G>C"	"r.?"	"p.(Gly591Arg)"	"26"	"substitution"	"missense"	"Gly424Arg"
"0000702631"	"00005458"	"99"	"1772"	"0"	"1772"	"0"	"c.1772G>A"	"r.?"	"p.(Gly591Asp)"	"26"	"substitution"	"missense"	"Gly424Asp"
"0000702632"	"00005458"	"99"	"1773"	"0"	"1773"	"0"	"c.1773dup"	"r.?"	"p.(Lys592*)"	"26"	"duplication"	"frameshift"	"Lys425Ter"
"0000702633"	"00005458"	"99"	"1786"	"0"	"1786"	"0"	"c.1786C>T"	"r.?"	"p.(Arg596*)"	"26"	"substitution"	"nonsense"	"Arg429Ter"
"0000702634"	"00005458"	"99"	"1786"	"0"	"1786"	"0"	"c.1786C>T"	"r.?"	"p.(Arg596*)"	"26"	"substitution"	"nonsense"	"Arg429Ter"
"0000702635"	"00005458"	"51"	"1804"	"0"	"1804"	"0"	"c.1804C>A"	"r.?"	"p.(Pro602Thr)"	"26"	"substitution"	"missense"	"Pro435Thr"
"0000702636"	"00005458"	"33"	"1804"	"0"	"1804"	"0"	"c.1804C>A"	"r.?"	"p.(Pro602Thr)"	"26"	"substitution"	"missense"	"Pro435Thr"
"0000702637"	"00005458"	"11"	"1804"	"0"	"1804"	"0"	"c.1804C>A"	"r.?"	"p.(Pro602Thr)"	"26"	"substitution"	"missense"	"Pro435Thr"
"0000702638"	"00005458"	"17"	"1804"	"0"	"1804"	"0"	"c.1804C>A"	"r.?"	"p.(Pro602Thr)"	"26"	"substitution"	"missense"	"Pro435Thr"
"0000702639"	"00005458"	"99"	"1808"	"0"	"1808"	"0"	"c.1808del"	"r.?"	"p.(Gly603Alafs*188)"	"26"	"deletion"	"frameshift"	""
"0000702640"	"00005458"	"99"	"1808"	"0"	"1808"	"0"	"c.1808G>A"	"r.?"	"p.(Gly603Asp)"	"26"	"substitution"	"missense"	"Gly436Asp"
"0000702641"	"00005458"	"99"	"1808"	"0"	"1808"	"0"	"c.1808G>A"	"r.?"	"p.(Gly603Asp)"	"26"	"substitution"	"missense"	"Gly436Asp"
"0000702642"	"00005458"	"99"	"1808"	"0"	"1808"	"0"	"c.1808G>A"	"r.?"	"p.(Gly603Asp)"	"26"	"substitution"	"missense"	"Gly436Asp"
"0000702643"	"00005458"	"99"	"1808"	"0"	"1808"	"0"	"c.1808G>A"	"r.?"	"p.(Gly603Asp)"	"26"	"substitution"	"missense"	"Gly436Asp"
"0000702644"	"00005458"	"99"	"1808"	"0"	"1808"	"0"	"c.1808G>A"	"r.?"	"p.(Gly603Asp)"	"26"	"substitution"	"missense"	"Gly436Asp"
"0000702645"	"00005458"	"99"	"1808"	"0"	"1808"	"0"	"c.1808G>T"	"r.?"	"p.(Gly603Val)"	"26"	"substitution"	"missense"	"Gly436Val"
"0000702646"	"00005458"	"57"	"1815"	"3"	"1815"	"3"	"c.1815+3del"	"r.?"	"p.?"	"26"	"deletion"	"splicing affected?"	""
"0000702647"	"00005458"	"99"	"1815"	"5"	"1815"	"5"	"c.1815+5G>A"	"r.?"	"-"	"26i"	"substitution"	"splicing affected?"	""
"0000702648"	"00005458"	"71"	"1815"	"5"	"1815"	"5"	"c.1815+5G>A"	"r.?"	"-"	"26i"	"substitution"	"splicing affected?"	""
"0000702649"	"00005458"	"97"	"1816"	"-2"	"1816"	"-2"	"c.1816-2A>G"	"r.?"	"-"	"26i"	"substitution"	"splicing affected?"	""
"0000702650"	"00005458"	"99"	"1816"	"0"	"1816"	"0"	"c.1816G>C"	"r.?"	"p.(Gly606Arg)"	"27"	"substitution"	"missense"	"Gly439Arg"
"0000702651"	"00005458"	"99"	"1831"	"0"	"1832"	"0"	"c.1831_1832del"	"r.?"	"p.(Asn611Trpfs*2)"	"27"	"deletion"	"frameshift"	""
"0000702652"	"00005458"	"55"	"1835"	"0"	"1835"	"0"	"c.1835G>A"	"r.?"	"p.(Gly612Asp)"	"27"	"substitution"	"missense"	"Gly445Asp"
"0000702653"	"00005458"	"99"	"1835"	"0"	"1835"	"0"	"c.1835G>A"	"r.?"	"p.(Gly612Asp)"	"27"	"substitution"	"missense"	"Gly445Asp"
"0000702654"	"00005458"	"99"	"1844"	"0"	"1844"	"0"	"c.1844G>A"	"r.?"	"p.(Gly615Glu)"	"27"	"substitution"	"missense"	"Gly448Glu"
"0000702655"	"00005458"	"99"	"1844"	"0"	"1844"	"0"	"c.1844G>A"	"r.?"	"p.(Gly615Glu)"	"27"	"substitution"	"missense"	"Gly448Glu"
"0000702656"	"00005458"	"99"	"1844"	"0"	"1844"	"0"	"c.1844G>T"	"r.?"	"p.(Gly615Val)"	"27"	"substitution"	"missense"	"Gly448Val"
"0000702657"	"00005458"	"51"	"1851"	"0"	"1851"	"0"	"c.1851G>A"	"r.?"	"p.(=)"	"27"	"substitution"	"silent"	""
"0000702658"	"00005458"	"99"	"1853"	"0"	"1853"	"0"	"c.1853G>T"	"r.?"	"p.(Gly618Val)"	"27"	"substitution"	"missense"	"Gly451Val"
"0000702659"	"00005458"	"97"	"1859"	"0"	"1859"	"0"	"c.1859dup"	"r.?"	"p.(Gly621Argfs*8)"	"27"	"duplication"	"frameshift"	""
"0000702660"	"00005458"	"99"	"1861"	"0"	"1861"	"0"	"c.1861G>C"	"r.?"	"p.(Gly621Arg)"	"27"	"substitution"	"missense"	"Gly454Arg"
"0000702661"	"00005458"	"99"	"1861"	"0"	"1861"	"0"	"c.1861G>T"	"r.?"	"p.(Gly621Trp)"	"27"	"substitution"	"missense"	"Gly454Trp"
"0000702662"	"00005458"	"99"	"1862"	"0"	"1862"	"0"	"c.1862G>A"	"r.?"	"p.(Gly621Glu)"	"27"	"substitution"	"missense"	"Gly454Glu"
"0000702663"	"00005458"	"99"	"1862"	"0"	"1862"	"0"	"c.1862G>T"	"r.?"	"p.(Gly621Val)"	"27"	"substitution"	"missense"	"Gly454Val"
"0000702664"	"00005458"	"99"	"1869"	"1"	"1869"	"1"	"c.1869+1G>A"	"r.?"	"-"	"27i"	"substitution"	"splicing affected?"	""
"0000702665"	"00005458"	"99"	"1869"	"1"	"1869"	"1"	"c.1869+1G>A"	"r.?"	"-"	"27i"	"substitution"	"splicing affected?"	""
"0000702666"	"00005458"	"99"	"1869"	"1"	"1869"	"1"	"c.1869+1G>C"	"r.?"	"-"	"27i"	"substitution"	"splicing affected?"	""
"0000702667"	"00005458"	"99"	"1869"	"1"	"1869"	"1"	"c.1869+1G>C"	"r.?"	"-"	"27i"	"substitution"	"splicing affected?"	""
"0000702668"	"00005458"	"99"	"1869"	"1"	"1869"	"1"	"c.1869+1G>C"	"r.?"	"-"	"27i"	"substitution"	"splicing affected?"	""
"0000702669"	"00005458"	"97"	"1869"	"1"	"1869"	"1"	"c.1869+1G>T"	"r.?"	"-"	"27i"	"substitution"	"splicing affected?"	""
"0000702670"	"00005458"	"99"	"1869"	"5"	"1869"	"5"	"c.1869+5G>A"	"r.?"	"-"	"27i"	"substitution"	"splicing affected?"	""
"0000702671"	"00005458"	"99"	"1869"	"5"	"1869"	"5"	"c.1869+5G>A"	"r.?"	"-"	"27i"	"substitution"	"splicing affected?"	""
"0000702672"	"00005458"	"99"	"1869"	"5"	"1869"	"5"	"c.1869+5G>T"	"r.?"	"-"	"27i"	"substitution"	"splicing affected?"	""
"0000702673"	"00005458"	"99"	"1870"	"-2"	"1870"	"-2"	"c.1870-2A>G"	"r.?"	"-"	"27i"	"substitution"	"splicing affected?"	""
"0000702674"	"00005458"	"99"	"1870"	"-2"	"1870"	"-2"	"c.1870-2A>T"	"r.?"	"-"	"27i"	"substitution"	"splicing affected, exon skipped"	""
"0000702675"	"00005458"	"99"	"1898"	"0"	"1898"	"0"	"c.1898G>A"	"r.?"	"p.(Gly633Glu)"	"28"	"substitution"	"missense"	"Gly466Glu"
"0000702676"	"00005458"	"99"	"1898"	"0"	"1898"	"0"	"c.1898G>A"	"r.?"	"p.(Gly633Glu)"	"28"	"substitution"	"missense"	"Gly466Glu"
"0000702677"	"00005458"	"99"	"1906"	"0"	"1906"	"0"	"c.1906G>C"	"r.?"	"p.(Gly636Arg)"	"28"	"substitution"	"missense"	"Gly469Arg"
"0000702678"	"00005458"	"99"	"1915"	"0"	"1915"	"0"	"c.1915G>A"	"r.?"	"p.(Gly639Arg)"	"28"	"substitution"	"missense"	"Gly472Arg"
"0000702679"	"00005458"	"99"	"1915"	"0"	"1915"	"0"	"c.1915G>C"	"r.?"	"p.(Gly639Arg)"	"28"	"substitution"	"missense"	"Gly472Arg"
"0000702680"	"00005458"	"99"	"1916"	"0"	"1916"	"0"	"c.1916G>A"	"r.?"	"p.(Gly639Glu)"	"28"	"substitution"	"missense"	"Gly472Glu"
"0000702681"	"00005458"	"99"	"1916"	"0"	"1916"	"0"	"c.1916G>A"	"r.?"	"p.(Gly639Glu)"	"28"	"substitution"	"missense"	"Gly472Glu"
"0000702682"	"00005458"	"99"	"1916"	"0"	"1916"	"0"	"c.1916G>A"	"r.?"	"p.(Gly639Glu)"	"28"	"substitution"	"missense"	"Gly472Glu"
"0000702683"	"00005458"	"99"	"1916"	"0"	"1916"	"0"	"c.1916G>T"	"r.?"	"p.(Gly639Val)"	"28"	"substitution"	"missense"	"Gly472Val"
"0000702684"	"00005458"	"99"	"1923"	"1"	"1923"	"1"	"c.1923+1G>A"	"r.?"	"-"	"28i"	"substitution"	"splicing affected?"	""
"0000702685"	"00005458"	"99"	"1923"	"1"	"1923"	"1"	"c.1923+1G>A"	"r.?"	"-"	"28i"	"substitution"	"splicing affected?"	""
"0000702686"	"00005458"	"99"	"1923"	"1"	"1923"	"1"	"c.1923+1G>A"	"r.?"	"-"	"28i"	"substitution"	"splicing affected?"	""
"0000702687"	"00005458"	"99"	"1923"	"1"	"1923"	"1"	"c.1923+1G>C"	"r.?"	"-"	"28i"	"substitution"	"splicing affected?"	""
"0000702688"	"00005458"	"99"	"1923"	"1"	"1923"	"1"	"c.1923+1G>C"	"r.?"	"-"	"28i"	"substitution"	"splicing affected?"	""
"0000702689"	"00005458"	"99"	"1923"	"2"	"1923"	"5"	"c.1923+2_1923+5del"	"r.?"	"-"	"28i"	"deletion"	"splicing affected?"	""
"0000702690"	"00005458"	"99"	"1923"	"2"	"1923"	"5"	"c.1923+2_1923+5del"	"r.?"	"-"	"28i"	"deletion"	"splicing affected?"	""
"0000702691"	"00005458"	"99"	"1925"	"0"	"1925"	"0"	"c.1925G>A"	"r.?"	"p.(Gly642Asp)"	"29"	"substitution"	"missense"	"Gly475Asp"
"0000702692"	"00005458"	"99"	"1925"	"0"	"1925"	"0"	"c.1925G>A"	"r.?"	"p.(Gly642Asp)"	"29"	"substitution"	"missense"	"Gly475Asp"
"0000702693"	"00005458"	"99"	"1925"	"0"	"1925"	"0"	"c.1925G>T"	"r.?"	"p.(Gly642Val)"	"29"	"substitution"	"missense"	"Gly475Val"
"0000702694"	"00005458"	"11"	"1927"	"0"	"1927"	"0"	"c.1927T>C"	"r.?"	"p.(=)"	"29"	"substitution"	"silent"	""
"0000702695"	"00005458"	"99"	"1952"	"0"	"1952"	"0"	"c.1952G>A"	"r.?"	"p.(Gly651Glu)"	"29"	"substitution"	"missense"	"Gly484Glu"
"0000702696"	"00005458"	"99"	"1961"	"0"	"1961"	"0"	"c.1961G>A"	"r.?"	"p.(Gly654Glu)"	"29"	"substitution"	"missense"	"Gly487Glu"
"0000702697"	"00005458"	"99"	"1969"	"0"	"1969"	"0"	"c.1969G>C"	"r.?"	"p.(Gly657Arg)"	"29"	"substitution"	"missense"	"Gly490Arg"
"0000702698"	"00005458"	"99"	"1970"	"0"	"1970"	"0"	"c.1970G>A"	"r.?"	"p.(Gly657Glu)"	"29"	"substitution"	"missense"	"Gly490Glu"
"0000702699"	"00005458"	"77"	"1972"	"0"	"1972"	"0"	"c.1972G>A"	"r.?"	"p.(Glu658Lys)"	"29"	"substitution"	"missense"	"Glu491Lys"
"0000702700"	"00005458"	"99"	"1974"	"0"	"1977"	"4"	"c.1974_1977+4del"	"r.spl"	"p.?"	"29_29i"	"deletion"	"splicing affected?"	""
"0000702701"	"00005458"	"99"	"1977"	"2"	"1977"	"2"	"c.1977+2T>G"	"r.?"	"-"	"29i"	"substitution"	"splicing affected?"	""
"0000702702"	"00005458"	"99"	"1977"	"5"	"1977"	"5"	"c.1977+5G>A"	"r.?"	"-"	"29i"	"substitution"	"splicing affected?"	""
"0000702703"	"00005458"	"55"	"1978"	"-18"	"1978"	"-18"	"c.1978-18A>G"	"r.?"	"-"	"29i"	"substitution"	"splicing affected?"	""
"0000702704"	"00005458"	"99"	"1978"	"-6"	"1981"	"0"	"c.1978-6_1981del"	"r.?"	"-"	"29i"	"deletion"	"splicing affected?"	""
"0000702705"	"00005458"	"99"	"1979"	"0"	"1979"	"0"	"c.1979G>A"	"r.?"	"p.(Gly660Asp)"	"30"	"substitution"	"missense"	"Gly493Asp"
"0000702706"	"00005458"	"99"	"1987"	"0"	"1987"	"0"	"c.1987G>C"	"r.?"	"p.(Gly663Arg)"	"30"	"substitution"	"missense"	"Gly496Arg"
"0000702707"	"00005458"	"99"	"1988"	"0"	"1988"	"0"	"c.1988G>A"	"r.?"	"p.(Gly663Asp)"	"30"	"substitution"	"missense"	"Gly496Asp"
"0000702708"	"00005458"	"99"	"1988"	"0"	"1988"	"0"	"c.1988G>A"	"r.?"	"p.(Gly663Asp)"	"30"	"substitution"	"missense"	"Gly496Asp"
"0000702709"	"00005458"	"99"	"1988"	"0"	"1988"	"0"	"c.1988G>T"	"r.?"	"p.(Gly663Val)"	"30"	"substitution"	"missense"	"Gly496Val"
"0000702710"	"00005458"	"99"	"1988"	"0"	"1988"	"0"	"c.1988G>T"	"r.?"	"p.(Gly663Val)"	"30"	"substitution"	"missense"	"Gly496Val"
"0000702711"	"00005458"	"99"	"1997"	"0"	"1997"	"0"	"c.1997G>A"	"r.?"	"p.(Gly666Asp)"	"30"	"substitution"	"missense"	"Gly499Asp"
"0000702712"	"00005458"	"99"	"1997"	"0"	"1997"	"0"	"c.1997G>A"	"r.?"	"p.(Gly666Asp)"	"30"	"substitution"	"missense"	"Gly499Asp"
"0000702713"	"00005458"	"99"	"1997"	"0"	"1997"	"0"	"c.1997G>A"	"r.?"	"p.(Gly666Asp)"	"30"	"substitution"	"missense"	"Gly499Asp"
"0000702714"	"00005458"	"11"	"2002"	"0"	"2002"	"0"	"c.2002C>A"	"r.?"	"p.(Pro668Thr)"	"30"	"substitution"	"missense"	"Pro501Thr"
"0000702715"	"00005458"	"11"	"2002"	"0"	"2002"	"0"	"c.2002C>A"	"r.?"	"p.(Pro668Thr)"	"30"	"substitution"	"missense"	""
"0000702716"	"00005458"	"33"	"2002"	"0"	"2002"	"0"	"c.2002C>A"	"r.?"	"p.(Pro668Thr)"	"30"	"substitution"	"missense"	"Pro501Thr"
"0000702717"	"00005458"	"99"	"2022"	"0"	"2022"	"0"	"c.2022G>A"	"r.?"	"-"	"30"	"substitution"	"splicing affected?"	""
"0000702718"	"00005458"	"99"	"2022"	"0"	"2022"	"0"	"c.2022G>A"	"r.?"	"-"	"30"	"substitution"	"splicing affected?"	""
"0000702719"	"00005458"	"99"	"2022"	"0"	"2022"	"0"	"c.2022G>A"	"r.?"	"-"	"30"	"substitution"	"splicing affected?"	""
"0000702720"	"00005458"	"97"	"2022"	"0"	"2022"	"0"	"c.2022G>A"	"r.?"	"-"	"30"	"substitution"	"splicing affected?"	""
"0000702721"	"00005458"	"99"	"2022"	"0"	"2022"	"0"	"c.2022G>T"	"r.?"	"-"	"30"	"substitution"	"splicing affected?"	""
"0000702722"	"00005458"	"99"	"2022"	"2"	"2022"	"2"	"c.2022+2T>C"	"r.?"	"-"	"30i"	"substitution"	"splicing affected?"	""
"0000702723"	"00005458"	"99"	"2022"	"2"	"2022"	"2"	"c.2022+2T>C"	"r.?"	"-"	"30i"	"substitution"	"splicing affected?"	""
"0000702724"	"00005458"	"99"	"2023"	"-1"	"2023"	"-1"	"c.2023-1G>A"	"r.?"	"-"	"30i"	"substitution"	"splicing affected?"	""
"0000702725"	"00005458"	"99"	"2024"	"0"	"2024"	"0"	"c.2024G>T"	"r.?"	"p.(Gly675Val)"	"31"	"substitution"	"missense"	"Gly508Val"
"0000702726"	"00005458"	"99"	"2024"	"0"	"2024"	"0"	"c.2024G>T"	"r.?"	"p.(Gly675Val)"	"31"	"substitution"	"missense"	"Gly508Val"
"0000702727"	"00005458"	"11"	"2035"	"0"	"2035"	"0"	"c.2035G>A"	"r.?"	"p.(Ala679Thr)"	"31"	"substitution"	"missense"	"Ala512Thr"
"0000702728"	"00005458"	"99"	"2042"	"0"	"2042"	"0"	"c.2042G>T"	"r.?"	"p.(Gly681Val)"	"31"	"substitution"	"missense"	"Gly514Val"
"0000702729"	"00005458"	"99"	"2042"	"0"	"2042"	"0"	"c.2042G>T"	"r.?"	"p.(Gly681Val)"	"31"	"substitution"	"missense"	"Gly514Val"
"0000702730"	"00005458"	"99"	"2042"	"0"	"2042"	"0"	"c.2042G>T"	"r.?"	"p.(Gly681Val)"	"31"	"substitution"	"missense"	"Gly514Val"
"0000702731"	"00005458"	"17"	"2044"	"0"	"2044"	"0"	"c.2044G>A"	"r.?"	"p.(Glu682Lys)"	"31"	"substitution"	"missense"	""
"0000702732"	"00005458"	"99"	"2044"	"0"	"2044"	"0"	"c.2044G>A"	"r.?"	"p.(Glu682Lys)"	"31"	"substitution"	"missense"	""
"0000702733"	"00005458"	"99"	"2044"	"0"	"2044"	"0"	"c.2044G>A"	"r.?"	"p.(Glu682Lys)"	"31"	"substitution"	"missense"	""
"0000702734"	"00005458"	"99"	"2050"	"0"	"2050"	"0"	"c.2050G>A"	"r.?"	"p.(Gly684Arg)"	"31"	"substitution"	"missense"	"Gly517Arg"
"0000702735"	"00005458"	"99"	"2051"	"0"	"2051"	"0"	"c.2051G>T"	"r.?"	"p.(Gly684Val)"	"31"	"substitution"	"missense"	"Gly517Val"
"0000702736"	"00005458"	"51"	"2056"	"0"	"2056"	"0"	"c.2056C>G"	"r.?"	"p.(Pro686Ala)"	"31"	"substitution"	"missense"	"Pro519Ala"
"0000702737"	"00005458"	"75"	"2057"	"0"	"2057"	"0"	"c.2057del"	"r.?"	"p.(Pro686Leufs*105)"	"31"	"deletion"	"frameshift"	""
"0000702738"	"00005458"	"99"	"2059"	"0"	"2059"	"0"	"c.2059G>C"	"r.?"	"p.(Gly687Arg)"	"31"	"substitution"	"missense"	"Gly520Arg"
"0000702739"	"00005458"	"99"	"2060"	"0"	"2060"	"0"	"c.2060G>T"	"r.?"	"p.(Gly687Val)"	"31"	"substitution"	"missense"	"Gly520Val"
"0000702740"	"00005458"	"99"	"2068"	"0"	"2068"	"0"	"c.2068G>A"	"r.?"	"p.(Gly690Arg)"	"31"	"substitution"	"missense"	"Gly523Arg"
"0000702741"	"00005458"	"99"	"2069"	"0"	"2069"	"0"	"c.2069G>T"	"r.?"	"p.(Gly690Val)"	"31"	"substitution"	"missense"	"Gly523Val"
"0000702742"	"00005458"	"99"	"2077"	"0"	"2077"	"0"	"c.2077G>A"	"r.?"	"p.(Gly693Arg)"	"31"	"substitution"	"missense"	"Gly526Arg"
"0000702743"	"00005458"	"99"	"2078"	"0"	"2078"	"0"	"c.2078G>C"	"r.?"	"p.(Gly693Ala)"	"31"	"substitution"	"missense"	"Gly526Ala"
"0000702744"	"00005458"	"99"	"2087"	"0"	"2087"	"0"	"c.2087G>A"	"r.?"	"p.(Gly696Asp)"	"31"	"substitution"	"missense"	"Gly529Asp"
"0000702745"	"00005458"	"11"	"2092"	"0"	"2092"	"0"	"c.2092G>A"	"r.?"	"p.(Ala698Thr)"	"31"	"substitution"	"missense"	"Ala531Thr"
"0000702746"	"00005458"	"91"	"2092"	"0"	"2092"	"0"	"c.2092G>A"	"r.?"	"p.(Ala698Thr)"	"31"	"substitution"	"missense"	"Ala531Thr"
"0000702747"	"00005458"	"55"	"2092"	"0"	"2092"	"0"	"c.2092G>A"	"r.?"	"p.(Ala698Thr)"	"31"	"substitution"	"missense"	"Ala531Thr"
"0000702748"	"00005458"	"99"	"2095"	"0"	"2095"	"0"	"c.2095G>C"	"r.?"	"p.(Gly699Arg)"	"31"	"substitution"	"missense"	"Gly532Arg"
"0000702749"	"00005458"	"99"	"2095"	"0"	"2095"	"0"	"c.2095G>C"	"r.?"	"p.(Gly699Arg)"	"31"	"substitution"	"missense"	"Gly532Arg"
"0000702750"	"00005458"	"99"	"2096"	"0"	"2096"	"0"	"c.2096G>A"	"r.?"	"p.(Gly699Asp)"	"31"	"substitution"	"missense"	"Gly532Asp"
"0000702751"	"00005458"	"99"	"2104"	"0"	"2104"	"0"	"c.2104G>A"	"r.?"	"p.(Gly702Ser)"	"31"	"substitution"	"missense"	"Gly538Ser"
"0000702752"	"00005458"	"99"	"2105"	"0"	"2105"	"0"	"c.2105G>A"	"r.?"	"p.(Gly702Asp)"	"31"	"substitution"	"missense"	"Gly535Asp"
"0000702753"	"00005458"	"99"	"2105"	"0"	"2105"	"0"	"c.2105G>T"	"r.?"	"p.(Gly702Val)"	"31"	"substitution"	"missense"	"Gly535Val"
"0000702754"	"00005458"	"11"	"2108"	"0"	"2108"	"0"	"c.2108C>T"	"r.?"	"p.(Pro703Leu)"	"31"	"substitution"	"missense"	"Pro536Leu"
"0000702755"	"00005458"	"99"	"2113"	"0"	"2113"	"0"	"c.2113G>A"	"r.?"	"p.(Gly705Arg)"	"31"	"substitution"	"missense"	"Gly538Arg"
"0000702756"	"00005458"	"99"	"2113"	"0"	"2113"	"0"	"c.2113G>A"	"r.?"	"p.(Gly705Arg)"	"31"	"substitution"	"missense"	"Gly538Arg"
"0000702757"	"00005458"	"99"	"2114"	"0"	"2114"	"0"	"c.2114G>A"	"r.?"	"p.(Gly705Glu)"	"31"	"substitution"	"missense"	"Gly538Glu"
"0000702758"	"00005458"	"99"	"2121"	"1"	"2121"	"1"	"c.2121+1G>C"	"r.?"	"-"	"31i"	"substitution"	"splicing affected?"	""
"0000702759"	"00005458"	"99"	"2122"	"0"	"2148"	"0"	"c.2122_2148del"	"r.?"	"p.(Gly708_Pro716del)"	"32"	"deletion"	"deletion"	""
"0000702760"	"00005458"	"79"	"2123"	"0"	"2123"	"0"	"c.2123G>A"	"r.?"	"p.(Gly708Asp)"	"32"	"substitution"	"missense"	"Gly541Asp"
"0000702761"	"00005458"	"99"	"2123"	"0"	"2123"	"0"	"c.2123G>T"	"r.?"	"p.(Gly708Val)"	"32"	"substitution"	"missense"	"Gly541Val"
"0000702762"	"00005458"	"99"	"2123"	"0"	"2123"	"0"	"c.2123G>T"	"r.?"	"p.(Gly708Val)"	"32"	"substitution"	"missense"	"Gly541Val"
"0000702763"	"00005458"	"99"	"2123"	"0"	"2123"	"0"	"c.2123G>T"	"r.?"	"p.(Gly708Val)"	"32"	"substitution"	"missense"	"Gly541Val"
"0000702764"	"00005458"	"99"	"2131"	"0"	"2131"	"0"	"c.2131G>A"	"r.?"	"p.(Gly711Ser)"	"32"	"substitution"	"missense"	"Gly544Ser"
"0000702765"	"00005458"	"99"	"2134"	"0"	"2160"	"0"	"c.2134_2160del"	"r.?"	"p.(Pro712_Gly720del)"	"32"	"deletion"	"deletion"	"Pro545_Gly553del"
"0000702766"	"00005458"	"99"	"2140"	"0"	"2140"	"0"	"c.2140G>A"	"r.?"	"p.(Gly714Arg)"	"32"	"substitution"	"missense"	"Gly547Arg"
"0000702767"	"00005458"	"99"	"2141"	"0"	"2141"	"0"	"c.2141G>A"	"r.?"	"p.(Gly714Glu)"	"32"	"substitution"	"missense"	"Gly547Glu"
"0000702768"	"00005458"	"99"	"2141"	"0"	"2141"	"0"	"c.2141G>A"	"r.?"	"p.(Gly714Glu)"	"32"	"substitution"	"missense"	"Gly547Glu"
"0000702769"	"00005458"	"99"	"2142"	"0"	"2168"	"0"	"c.2142_2168del"	"r.?"	"p.(Pro715_Gly723del)"	"32"	"deletion"	"deletion"	""
"0000702770"	"00005458"	"99"	"2150"	"0"	"2150"	"0"	"c.2150G>A"	"r.?"	"p.(Gly717Asp)"	"32"	"substitution"	"missense"	"Gly550Asp"
"0000702771"	"00005458"	"99"	"2150"	"0"	"2150"	"0"	"c.2150G>A"	"r.?"	"p.(Gly717Asp)"	"32"	"substitution"	"missense"	"Gly550Asp"
"0000702772"	"00005458"	"99"	"2150"	"0"	"2150"	"0"	"c.2150G>A"	"r.?"	"p.(Gly717Asp)"	"32"	"substitution"	"missense"	"Gly550Asp"
"0000702773"	"00005458"	"99"	"2150"	"0"	"2150"	"0"	"c.2150G>A"	"r.?"	"p.(Gly717Asp)"	"32"	"substitution"	"missense"	"Gly550Asp"
"0000702774"	"00005458"	"99"	"2168"	"0"	"2168"	"0"	"c.2168G>A"	"r.?"	"p.(Gly723Asp)"	"32"	"substitution"	"missense"	"Gly556Asp"
"0000702775"	"00005458"	"99"	"2176"	"0"	"2176"	"0"	"c.2176G>A"	"r.?"	"p.(Gly726Arg)"	"32"	"substitution"	"missense"	"Gly559Arg"
"0000702776"	"00005458"	"99"	"2176"	"0"	"2176"	"0"	"c.2176G>A"	"r.?"	"p.(Gly726Arg)"	"32"	"substitution"	"missense"	"Gly559Arg"
"0000702777"	"00005458"	"99"	"2176"	"0"	"2176"	"0"	"c.2176G>C"	"r.?"	"p.(Gly726Arg)"	"32"	"substitution"	"missense"	"Gly559Arg"
"0000702778"	"00005458"	"99"	"2177"	"0"	"2177"	"0"	"c.2177G>A"	"r.?"	"p.(Gly726Glu)"	"32"	"substitution"	"missense"	"Gly559Glu"
"0000702779"	"00005458"	"99"	"2185"	"0"	"2185"	"0"	"c.2185G>A"	"r.?"	"p.(Gly729Arg)"	"32"	"substitution"	"missense"	"Gly562Arg"
"0000702780"	"00005458"	"99"	"2185"	"0"	"2185"	"0"	"c.2185G>A"	"r.?"	"p.(Gly729Arg)"	"32"	"substitution"	"missense"	"Gly562Arg"
"0000702781"	"00005458"	"99"	"2186"	"0"	"2186"	"0"	"c.2186G>A"	"r.?"	"p.(Gly729Glu)"	"32"	"substitution"	"missense"	"Gly562Glu"
"0000702782"	"00005458"	"99"	"2187"	"0"	"2187"	"0"	"c.2187del"	"r.?"	"p.(Glu730Lysfs*61)"	"32"	"deletion"	"frameshift"	"Glu563Lysfs*61"
"0000702783"	"00005458"	"77"	"2187"	"0"	"2187"	"0"	"c.2187del"	"r.?"	"p.(Glu730Lysfs*61)"	"32"	"deletion"	"frameshift"	"Glu563Lysfs*61"
"0000702784"	"00005458"	"99"	"2194"	"0"	"2194"	"0"	"c.2194G>A"	"r.?"	"p.(Gly732Arg)"	"32"	"substitution"	"missense"	"Gly565Arg"
"0000702785"	"00005458"	"99"	"2194"	"0"	"2194"	"0"	"c.2194G>A"	"r.?"	"p.(Gly732Arg)"	"32"	"substitution"	"missense"	"Gly565Arg"
"0000702786"	"00005458"	"99"	"2194"	"0"	"2194"	"0"	"c.2194G>A"	"r.?"	"p.(Gly732Arg)"	"32"	"substitution"	"missense"	"Gly565Arg"
"0000702787"	"00005458"	"99"	"2195"	"0"	"2195"	"0"	"c.2195G>A"	"r.?"	"p.(Gly732Glu)"	"32"	"substitution"	"missense"	"Gly565Glu"
"0000702788"	"00005458"	"99"	"2195"	"0"	"2195"	"0"	"c.2195G>T"	"r.?"	"p.(Gly732Val)"	"32"	"substitution"	"missense"	"Gly565Val"
"0000702789"	"00005458"	"99"	"2203"	"0"	"2203"	"0"	"c.2203G>A"	"r.?"	"p.(Gly735Arg)"	"32"	"substitution"	"missense"	"Gly568Arg"
"0000702790"	"00005458"	"99"	"2203"	"0"	"2203"	"0"	"c.2203G>A"	"r.?"	"p.(Gly735Arg)"	"32"	"substitution"	"missense"	"Gly568Arg"
"0000702791"	"00005458"	"99"	"2212"	"0"	"2212"	"0"	"c.2212G>A"	"r.?"	"p.(Gly738Ser)"	"32"	"substitution"	"missense"	"Gly571Ser"
"0000702792"	"00005458"	"99"	"2212"	"0"	"2212"	"0"	"c.2212G>A"	"r.?"	"p.(Gly738Ser)"	"32"	"substitution"	"missense"	"Gly571Ser"
"0000702793"	"00005458"	"99"	"2212"	"0"	"2212"	"0"	"c.2212G>A"	"r.?"	"p.(Gly738Ser)"	"32"	"substitution"	"missense"	"Gly571Ser"
"0000702794"	"00005458"	"99"	"2212"	"0"	"2212"	"0"	"c.2212G>A"	"r.?"	"p.(Gly738Ser)"	"32"	"substitution"	"missense"	"Gly571Ser"
"0000702795"	"00005458"	"99"	"2212"	"0"	"2212"	"0"	"c.2212G>T"	"r.?"	"p.(Gly738Cys)"	"32"	"substitution"	"missense"	"Gly571Cys"
"0000702796"	"00005458"	"99"	"2213"	"0"	"2213"	"0"	"c.2213G>T"	"r.?"	"p.(Gly738Val)"	"32"	"substitution"	"missense"	"Gly571Val"
"0000702797"	"00005458"	"99"	"2213"	"0"	"2213"	"0"	"c.2213G>T"	"r.?"	"p.(Gly738Val)"	"32"	"substitution"	"missense"	"Gly571Val"
"0000702798"	"00005458"	"99"	"2221"	"0"	"2221"	"0"	"c.2221G>A"	"r.?"	"p.(Gly741Ser)"	"32"	"substitution"	"missense"	"Gly574Ser"
"0000702799"	"00005458"	"99"	"2221"	"0"	"2221"	"0"	"c.2221G>A"	"r.?"	"p.(Gly741Ser)"	"32"	"substitution"	"missense"	"Gly574Ser"
"0000702800"	"00005458"	"99"	"2221"	"0"	"2221"	"0"	"c.2221G>A"	"r.?"	"p.(Gly741Ser)"	"32"	"substitution"	"missense"	"Gly574Ser"
"0000702801"	"00005458"	"99"	"2221"	"0"	"2221"	"0"	"c.2221G>T"	"r.?"	"p.(Gly741Cys)"	"32"	"substitution"	"missense"	"Gly574Cys"
"0000702802"	"00005458"	"99"	"2222"	"0"	"2222"	"0"	"c.2222G>A"	"r.?"	"p.(Gly741Asp)"	"32"	"substitution"	"missense"	"Gly574Asp"
"0000702803"	"00005458"	"99"	"2222"	"0"	"2222"	"0"	"c.2222G>A"	"r.?"	"p.(Gly741Asp)"	"32"	"substitution"	"missense"	"Gly574Asp"
"0000702804"	"00005458"	"99"	"2222"	"0"	"2222"	"0"	"c.2222G>C"	"r.?"	"p.(Gly741Ala)"	"32"	"substitution"	"missense"	"Gly574Ala"
"0000702805"	"00005458"	"11"	"2229"	"0"	"2229"	"0"	"c.2229G>A"	"r.?"	"-"	"32"	"substitution"	"silent"	""
"0000702806"	"00005458"	"99"	"2231"	"0"	"2231"	"0"	"c.2231G>A"	"r.?"	"p.(Gly744Asp)"	"33"	"substitution"	"missense"	"Gly577Asp"
"0000702807"	"00005458"	"99"	"2231"	"0"	"2231"	"0"	"c.2231G>T"	"r.?"	"p.(Gly744Val)"	"33"	"substitution"	"missense"	"Gly577Val"
"0000702808"	"00005458"	"99"	"2231"	"0"	"2231"	"0"	"c.2231G>T"	"r.?"	"p.(Gly744Val)"	"33"	"substitution"	"missense"	"Gly577Val"
"0000702809"	"00005458"	"11"	"2244"	"0"	"2244"	"0"	"c.2244T>C"	"r.?"	"p.(=)"	"33"	"substitution"	"silent"	""
"0000702810"	"00005458"	"97"	"2249"	"0"	"2249"	"0"	"c.2249G>A"	"r.?"	"p.(Gly750Asp)"	"33"	"substitution"	"missense"	"Gly583Asp"
"0000702811"	"00005458"	"99"	"2267"	"0"	"2267"	"0"	"c.2267G>A"	"r.?"	"p.(Gly756Glu)"	"33"	"substitution"	"missense"	"Gly589Glu"
"0000702812"	"00005458"	"99"	"2276"	"0"	"2276"	"0"	"c.2276G>A"	"r.?"	"p.(Gly759Asp)"	"33"	"substitution"	"missense"	"Gly592Asp"
"0000702813"	"00005458"	"79"	"2283"	"3"	"2283"	"3"	"c.2283+3G>C"	"r.?"	"-"	"33i"	"substitution"	"splicing affected?"	""
"0000702814"	"00005458"	"77"	"2283"	"5"	"2283"	"5"	"c.2283+5G>A"	"r.?"	"-"	"33i"	"substitution"	"splicing affected?"	""
"0000702815"	"00005458"	"99"	"2283"	"835"	"3255"	"466"	"c.2283+835_3255+466del"	"r.?"	"p.(Gly762_Pro1085del)"	"33i"	"deletion"	"deletion, multi exon"	""
"0000702816"	"00005458"	"99"	"2284"	"-108"	"3490"	"0"	"c.2284-108_3490del"	"r.?"	"p.(Gly762_Glu1175del)"	"33i"	"deletion"	"deletion"	""
"0000702817"	"00005458"	"99"	"2284"	"-2"	"2284"	"-2"	"c.2284-2A>G"	"r.?"	"-"	"33i"	"substitution"	"splicing affected?"	""
"0000702818"	"00005458"	"99"	"2284"	"0"	"2284"	"0"	"c.2284G>C"	"r.?"	"p.(Gly762Arg)"	"34"	"substitution"	"missense"	"Gly595Arg"
"0000702819"	"00005458"	"99"	"2284"	"0"	"2284"	"0"	"c.2284G>C"	"r.?"	"p.(Gly762Arg)"	"34"	"substitution"	"missense"	"Gly595Arg"
"0000702820"	"00005458"	"99"	"2284"	"0"	"2284"	"0"	"c.2284G>T"	"r.?"	"p.(Gly762Cys)"	"34"	"substitution"	"missense"	"Gly595Cys"
"0000702821"	"00005458"	"99"	"2285"	"0"	"2285"	"0"	"c.2285G>A"	"r.?"	"p.(Gly762Asp)"	"34"	"substitution"	"missense"	"Gly595Asp"
"0000702822"	"00005458"	"99"	"2285"	"0"	"2285"	"0"	"c.2285G>A"	"r.?"	"p.(Gly762Asp)"	"34"	"substitution"	"missense"	"Gly595Asp"
"0000702823"	"00005458"	"99"	"2285"	"0"	"2285"	"0"	"c.2285G>A"	"r.?"	"p.(Gly762Asp)"	"34"	"substitution"	"missense"	"Gly595Asp"
"0000702824"	"00005458"	"99"	"2285"	"0"	"2285"	"0"	"c.2285G>A"	"r.?"	"p.(Gly762Asp)"	"34"	"substitution"	"missense"	"Gly595Asp"
"0000702825"	"00005458"	"99"	"2285"	"0"	"2285"	"0"	"c.2285G>A"	"r.?"	"p.(Gly762Asp)"	"34"	"substitution"	"missense"	"Gly595Asp"
"0000702826"	"00005458"	"99"	"2285"	"0"	"2285"	"0"	"c.2285G>T"	"r.?"	"p.(Gly762Val)"	"34"	"substitution"	"missense"	"Gly595Val"
"0000702827"	"00005458"	"99"	"2285"	"0"	"2285"	"0"	"c.2285G>T"	"r.?"	"p.(Gly762Val)"	"34"	"substitution"	"missense"	"Gly595Val"
"0000702828"	"00005458"	"99"	"2285"	"0"	"2285"	"0"	"c.2285G>T"	"r.?"	"p.(Gly762Val)"	"34"	"substitution"	"missense"	"Gly595Val"
"0000702829"	"00005458"	"99"	"2293"	"0"	"2293"	"0"	"c.2293G>A"	"r.?"	"p.(Gly765Ser)"	"34"	"substitution"	"missense"	"Gly598Ser"
"0000702830"	"00005458"	"99"	"2293"	"0"	"2293"	"0"	"c.2293G>C"	"r.?"	"p.(Gly765Arg)"	"34"	"substitution"	"missense"	"Gly598Arg"
"0000702831"	"00005458"	"99"	"2294"	"0"	"2294"	"0"	"c.2294G>T"	"r.?"	"p.(Gly765Val)"	"34"	"substitution"	"missense"	"Gly598Val"
"0000702832"	"00005458"	"17"	"2295"	"0"	"2312"	"0"	"c.2295_2312del"	"r.?"	"p.(Ile767_Pro772del)"	"34"	"deletion"	"deletion"	"Ile600_Pro605del"
"0000702833"	"00005458"	"99"	"2303"	"0"	"2303"	"0"	"c.2303G>T"	"r.?"	"p.(Gly768Val)"	"34"	"substitution"	"missense"	"Gly601Val"
"0000702834"	"00005458"	"99"	"2312"	"0"	"2312"	"0"	"c.2312G>T"	"r.?"	"p.(Gly771Val)"	"34"	"substitution"	"missense"	"Gly604Val"
"0000702835"	"00005458"	"99"	"2329"	"0"	"2329"	"0"	"c.2329G>C"	"r.?"	"p.(Gly777Arg)"	"34"	"substitution"	"missense"	"Gly610Arg"
"0000702836"	"00005458"	"99"	"2337"	"0"	"2337"	"0"	"c.2337G>A"	"r.?"	"-"	"34"	"substitution"	"splicing affected?"	""
"0000702837"	"00005458"	"99"	"2337"	"0"	"2337"	"0"	"c.2337G>A"	"r.?"	"-"	"34"	"substitution"	"splicing affected?"	""
"0000702838"	"00005458"	"99"	"2337"	"1"	"2337"	"1"	"c.2337+1G>A"	"r.?"	"-"	"34i"	"substitution"	"splicing affected?"	""
"0000702839"	"00005458"	"99"	"2337"	"1"	"2337"	"1"	"c.2337+1G>A"	"r.?"	"-"	"34i"	"substitution"	"splicing affected?"	""
"0000702840"	"00005458"	"99"	"2337"	"2"	"2337"	"2"	"c.2337+2T>A"	"r.?"	"-"	"34i"	"substitution"	"splicing affected?"	""
"0000702841"	"00005458"	"99"	"2337"	"2"	"2337"	"2"	"c.2337+2T>C"	"r.?"	"-"	"34i"	"substitution"	"splicing affected?"	""
"0000702842"	"00005458"	"99"	"2337"	"55"	"3039"	"555"	"c.2337+55_3039+555del"	"r.?"	"p.(Gly780_Asp1013del)"	"34i"	"deletion"	"deletion, multi exon"	""
"0000702843"	"00005458"	"99"	"2356"	"0"	"2356"	"0"	"c.2356G>A"	"r.?"	"p.(Gly786Arg)"	"35"	"substitution"	"missense"	"Gly619Arg"
"0000702844"	"00005458"	"99"	"2356"	"0"	"2356"	"0"	"c.2356G>A"	"r.?"	"p.(Gly786Arg)"	"35"	"substitution"	"missense"	"Gly619Arg"
"0000702845"	"00005458"	"99"	"2356"	"0"	"2356"	"0"	"c.2356G>A"	"r.?"	"p.(Gly786Arg)"	"35"	"substitution"	"missense"	"Gly619Arg"
"0000702846"	"00005458"	"99"	"2356"	"0"	"2356"	"0"	"c.2356G>A"	"r.?"	"p.(Gly786Arg)"	"35"	"substitution"	"missense"	"Gly619Arg"
"0000702847"	"00005458"	"99"	"2356"	"0"	"2356"	"0"	"c.2356G>A"	"r.?"	"p.(Gly786Arg)"	"35"	"substitution"	"missense"	"Gly619Arg"
"0000702848"	"00005458"	"99"	"2356"	"0"	"2356"	"0"	"c.2356G>A"	"r.?"	"p.(Gly786Arg)"	"35"	"substitution"	"missense"	"Gly619Arg"
"0000702849"	"00005458"	"99"	"2356"	"0"	"2356"	"0"	"c.2356G>A"	"r.?"	"p.(Gly786Arg)"	"35"	"substitution"	"missense"	"Gly619Arg"
"0000702850"	"00005458"	"99"	"2357"	"0"	"2357"	"0"	"c.2357G>T"	"r.?"	"p.(Gly786Val)"	"35"	"substitution"	"missense"	"Gly619Val"
"0000702851"	"00005458"	"99"	"2357"	"0"	"2357"	"0"	"c.2357G>T"	"r.?"	"p.(Gly786Val)"	"35"	"substitution"	"missense"	"Gly619Val"
"0000702852"	"00005458"	"99"	"2357"	"0"	"2357"	"0"	"c.2357G>T"	"r.?"	"p.(Gly786Val)"	"35"	"substitution"	"missense"	"Gly619Val"
"0000702853"	"00005458"	"99"	"2402"	"0"	"2402"	"0"	"c.2402G>A"	"r.?"	"p.(Gly801Asp)"	"36"	"substitution"	"missense"	"Gly634Asp"
"0000702854"	"00005458"	"99"	"2402"	"0"	"2402"	"0"	"c.2402G>A"	"r.?"	"p.(Gly801Asp)"	"36"	"substitution"	"missense"	"Gly634Asp"
"0000702855"	"00005458"	"99"	"2402"	"0"	"2402"	"0"	"c.2402G>A"	"r.?"	"p.(Gly801Asp)"	"36"	"substitution"	"missense"	"Gly634Asp"
"0000702856"	"00005458"	"99"	"2410"	"0"	"2410"	"0"	"c.2410G>A"	"r.?"	"p.(Gly804Ser)"	"36"	"substitution"	"missense"	"Gly637Ser"
"0000702857"	"00005458"	"99"	"2411"	"0"	"2411"	"0"	"c.2411G>T"	"r.?"	"p.(Gly804Val)"	"36"	"substitution"	"missense"	"Gly637Val"
"0000702858"	"00005458"	"99"	"2417"	"0"	"2417"	"0"	"c.2417C>T"	"r.?"	"p.(Pro806Leu)"	"36"	"substitution"	"missense"	"Pro639Leu"
"0000702859"	"00005458"	"99"	"2438"	"0"	"2438"	"0"	"c.2438G>A"	"r.?"	"p.(Gly813Asp)"	"36"	"substitution"	"missense"	"Gly646Asp"
"0000702860"	"00005458"	"99"	"2445"	"1"	"2445"	"1"	"c.2445+1G>C"	"r.?"	"-"	"36i"	"substitution"	"splicing affected?"	""
"0000702861"	"00005458"	"99"	"2445"	"2"	"2445"	"2"	"c.2445+2dup"	"r.?"	"-"	"36i"	"duplication"	"splicing affected?"	""
"0000702862"	"00005458"	"99"	"2445"	"5"	"2445"	"5"	"c.2445+5G>A"	"r.?"	"-"	"36i"	"substitution"	"splicing affected?"	""
"0000702863"	"00005458"	"99"	"2446"	"-2"	"2446"	"-2"	"c.2446-2A>G"	"r.?"	"-"	"36i"	"substitution"	"splicing affected?"	""
"0000702864"	"00005458"	"79"	"2456"	"0"	"2456"	"0"	"c.2456G>A"	"r.?"	"p.(Gly819Asp)"	"37"	"substitution"	"missense"	"Gly652Asp"
"0000702865"	"00005458"	"99"	"2465"	"0"	"2465"	"0"	"c.2465G>C"	"r.?"	"p.(Gly822Ala)"	"37"	"substitution"	"missense"	"Gly655Ala"
"0000702866"	"00005458"	"99"	"2482"	"0"	"2482"	"0"	"c.2482G>A"	"r.?"	"p.(Gly828Arg)"	"37"	"substitution"	"missense"	"Gly661Arg"
"0000702867"	"00005458"	"99"	"2482"	"0"	"2482"	"0"	"c.2482G>T"	"r.?"	"p.(Gly828Trp)"	"37"	"substitution"	"missense"	"Gly661Trp"
"0000702868"	"00005458"	"99"	"2483"	"0"	"2483"	"0"	"c.2483G>A"	"r.?"	"p.(Gly828Glu)"	"37"	"substitution"	"missense"	"Gly661Glu"
"0000702869"	"00005458"	"99"	"2483"	"0"	"2483"	"0"	"c.2483G>A"	"r.?"	"p.(Gly828Glu)"	"37"	"substitution"	"missense"	"Gly661Glu"
"0000702870"	"00005458"	"99"	"2490"	"0"	"2516"	"0"	"c.2490_2516del"	"r.?"	"p.(Gly831_Pro839del)"	"37"	"deletion"	"deletion"	""
"0000702871"	"00005458"	"99"	"2492"	"0"	"2492"	"0"	"c.2492G>A"	"r.?"	"p.(Gly831Asp)"	"37"	"substitution"	"missense"	"Gly664Asp"
"0000702872"	"00005458"	"99"	"2492"	"0"	"2492"	"0"	"c.2492G>A"	"r.?"	"p.(Gly831Asp)"	"37"	"substitution"	"missense"	"Gly664Asp"
"0000702873"	"00005458"	"99"	"2501"	"0"	"2501"	"0"	"c.2501G>A"	"r.?"	"p.(Gly834Asp)"	"37"	"substitution"	"missense"	"Gly667Asp"
"0000702874"	"00005458"	"99"	"2501"	"0"	"2501"	"0"	"c.2501G>T"	"r.?"	"p.(Gly834Val)"	"37"	"substitution"	"missense"	"Gly667Val"
"0000702875"	"00005458"	"99"	"2510"	"0"	"2510"	"0"	"c.2510G>A"	"r.?"	"p.(Gly837Asp)"	"37"	"substitution"	"missense"	"Gly670Asp"
"0000702876"	"00005458"	"99"	"2510"	"0"	"2510"	"0"	"c.2510G>A"	"r.?"	"p.(Gly837Asp)"	"37"	"substitution"	"missense"	"Gly670Asp"
"0000702877"	"00005458"	"99"	"2510"	"0"	"2510"	"0"	"c.2510G>A"	"r.?"	"p.(Gly837Asp)"	"37"	"substitution"	"missense"	"Gly670Asp"
"0000702878"	"00005458"	"55"	"2515"	"0"	"2515"	"0"	"c.2515C>T"	"r.?"	"p.(Pro839Ser)"	"37"	"substitution"	"missense"	"Pro672Ser"
"0000702879"	"00005458"	"99"	"2528"	"0"	"2528"	"0"	"c.2528G>A"	"r.?"	"p.(Gly843Glu)"	"37"	"substitution"	"missense"	"Gly676Glu"
"0000702880"	"00005458"	"99"	"2528"	"0"	"2528"	"0"	"c.2528G>A"	"r.?"	"p.(Gly843Glu)"	"37"	"substitution"	"missense"	"Gly676Glu"
"0000702881"	"00005458"	"99"	"2534"	"0"	"2534"	"0"	"c.2534dup"	"r.?"	"p.(Gly846Trpfs*17)"	"37"	"duplication"	"frameshift"	""
"0000702882"	"00005458"	"99"	"2545"	"0"	"2545"	"0"	"c.2545G>C"	"r.?"	"p.(Gly849Arg)"	"37"	"substitution"	"missense"	"Gly682Arg"
"0000702883"	"00005458"	"59"	"2553"	"1"	"2553"	"1"	"c.2553+1del"	"r.?"	"-"	"37i"	"substitution"	"splicing affected?"	""
"0000702884"	"00005458"	"99"	"2553"	"1"	"2553"	"1"	"c.2553+1del"	"r.?"	"-"	"37i"	"substitution"	"splicing affected?"	""
"0000702885"	"00005458"	"99"	"2553"	"1"	"2553"	"1"	"c.2553+1G>A"	"r.?"	"-"	"37i"	"substitution"	"splicing affected?"	""
"0000702886"	"00005458"	"99"	"2553"	"1"	"2553"	"1"	"c.2553+1G>A"	"r.?"	"-"	"37i"	"substitution"	"splicing affected?"	""
"0000702887"	"00005458"	"99"	"2553"	"1"	"2553"	"1"	"c.2553+1G>A"	"r.?"	"-"	"37i"	"substitution"	"splicing affected?"	""
"0000702888"	"00005458"	"99"	"2553"	"1"	"2553"	"1"	"c.2553+1G>A"	"r.?"	"-"	"37i"	"substitution"	"splicing affected?"	""
"0000702889"	"00005458"	"99"	"2553"	"1"	"2553"	"1"	"c.2553+1G>C"	"r.?"	"-"	"37i"	"substitution"	"splicing affected?"	""
"0000702890"	"00005458"	"99"	"2553"	"1"	"2553"	"1"	"c.2553+1G>C"	"r.?"	"-"	"37i"	"substitution"	"splicing affected?"	""
"0000702891"	"00005458"	"99"	"2553"	"1"	"2553"	"1"	"c.2553+1G>T"	"r.?"	"-"	"37i"	"substitution"	"splicing affected?"	""
"0000702892"	"00005458"	"99"	"2553"	"2"	"2553"	"2"	"c.2553+2T>C"	"r.?"	"-"	"37i"	"substitution"	"splicing affected?"	""
"0000702893"	"00005458"	"99"	"2553"	"2"	"2553"	"2"	"c.2553+2T>C"	"r.?"	"-"	"37i"	"substitution"	"splicing affected?"	""
"0000702894"	"00005458"	"99"	"2553"	"2"	"2553"	"2"	"c.2553+2T>C"	"r.?"	"-"	"37i"	"substitution"	"splicing affected?"	""
"0000702895"	"00005458"	"99"	"2553"	"2"	"2553"	"3"	"c.2553+2_2553+3insTT"	"r.?"	"-"	"37i"	"insertion"	"splicing affected?"	""
"0000702896"	"00005458"	"99"	"2553"	"3"	"2553"	"3"	"c.2553+3A>T"	"r.?"	"-"	"37i"	"substitution"	"splicing affected?"	""
"0000702897"	"00005458"	"79"	"2553"	"5"	"2553"	"5"	"c.2553+5G>A"	"r.?"	"-"	"37i"	"substitution"	"splicing affected?"	""
"0000702898"	"00005458"	"99"	"2554"	"-1"	"2554"	"-1"	"c.2554-1G>A"	"r.?"	"-"	"37i"	"substitution"	"splicing affected?"	""
"0000702899"	"00005458"	"99"	"2554"	"0"	"2554"	"0"	"c.2554G>T"	"r.?"	"p.(Gly852Cys)"	"38"	"substitution"	"missense"	"Gly685Cys"
"0000702900"	"00005458"	"99"	"2555"	"0"	"2555"	"0"	"c.2555G>A"	"r.?"	"p.(Gly852Asp)"	"38"	"substitution"	"missense"	"Gly685Asp"
"0000702901"	"00005458"	"99"	"2564"	"0"	"2564"	"0"	"c.2564G>A"	"r.?"	"p.(Gly855Asp)"	"38"	"substitution"	"missense"	"Gly688Asp"
"0000702902"	"00005458"	"99"	"2564"	"0"	"2564"	"0"	"c.2564G>A"	"r.?"	"p.(Gly855Asp)"	"38"	"substitution"	"missense"	"Gly688Asp"
"0000702903"	"00005458"	"79"	"2564"	"0"	"2564"	"0"	"c.2564G>T"	"r.?"	"p.(Gly855Val)"	"38"	"substitution"	"missense"	"Gly688Val"
"0000702904"	"00005458"	"99"	"2569"	"0"	"2569"	"0"	"c.2569C>T"	"r.?"	"p.(Gln857*)"	"38"	"substitution"	"nonsense"	"Gln690Ter"
"0000702905"	"00005458"	"99"	"2573"	"0"	"2573"	"0"	"c.2573G>T"	"r.?"	"p.(Gly858Val)"	"38"	"substitution"	"missense"	"Gly691Val"
"0000702906"	"00005458"	"99"	"2600"	"0"	"2600"	"0"	"c.2600G>A"	"r.?"	"p.(Gly867Asp)"	"38"	"substitution"	"missense"	"Gly700Asp"
"0000702907"	"00005458"	"99"	"2607"	"4"	"2607"	"7"	"c.2607+4_2607+7del"	"r.?"	"-"	"38i"	"deletion"	"splicing affected?"	""
"0000702908"	"00005458"	"99"	"2607"	"5"	"2607"	"5"	"c.2607+5G>A"	"r.?"	"-"	"38i"	"substitution"	"splicing affected?"	""
"0000702909"	"00005458"	"99"	"2607"	"5"	"2607"	"5"	"c.2607+5G>T"	"r.?"	"-"	"38i"	"substitution"	"splicing affected?"	""
"0000702910"	"00005458"	"99"	"2608"	"-1"	"3255"	"1"	"c.2608-?_3255+?del"	"r.?"	"p.(Gly871_Pro1086del)"	"38i"	"deletion"	"deletion, multi exon"	""
"0000702911"	"00005458"	"77"	"2633"	"0"	"2633"	"0"	"c.2633G>A"	"r.?"	"p.(Arg878His)"	"39"	"substitution"	"missense"	"Arg711His"
"0000702912"	"00005458"	"99"	"2636"	"0"	"2636"	"0"	"c.2636G>T"	"r.?"	"p.(Gly879Val)"	"39"	"substitution"	"missense"	"Gly712Val"
"0000702913"	"00005458"	"99"	"2645"	"0"	"2645"	"0"	"c.2645G>A"	"r.?"	"p.(Gly882Asp)"	"39"	"substitution"	"missense"	"Gly715Asp"
"0000702914"	"00005458"	"97"	"2654"	"0"	"2655"	"0"	"c.2654_2655del"	"r.?"	"p.(Gly885Glufs*2)"	"39"	"deletion"	"frameshift"	"Gly718Glufs*2"
"0000702915"	"00005458"	"99"	"2655"	"0"	"2661"	"7"	"c.2655_2661+7delinsGACCTGAGAC"	"r.?"	"-"	"39"	"delins"	"splicing affected?"	""
"0000702916"	"00005458"	"99"	"2671"	"0"	"2671"	"0"	"c.2671G>A"	"r.?"	"p.(Gly891Arg)"	"40"	"substitution"	"missense"	"Gly724Arg"
"0000702917"	"00005458"	"99"	"2681"	"0"	"2681"	"0"	"c.2681G>A"	"r.?"	"p.(Gly894Asp)"	"40"	"substitution"	"missense"	"Gly727Asp"
"0000702918"	"00005458"	"99"	"2681"	"0"	"2681"	"0"	"c.2681G>C"	"r.?"	"p.(Gly894Ala)"	"40"	"substitution"	"missense"	"Gly727Ala"
"0000702919"	"00005458"	"99"	"2690"	"0"	"2690"	"0"	"c.2690G>A"	"r.?"	"p.(Gly897Asp)"	"40"	"substitution"	"missense"	"Gly730Asp"
"0000702920"	"00005458"	"99"	"2699"	"0"	"2699"	"0"	"c.2699G>A"	"r.?"	"p.(Gly900Asp)"	"40"	"substitution"	"missense"	"Gly733Asp"
"0000702921"	"00005458"	"99"	"2699"	"0"	"2699"	"0"	"c.2699G>A"	"r.?"	"p.(Gly900Asp)"	"40"	"substitution"	"missense"	"Gly733Asp"
"0000702922"	"00005458"	"99"	"2708"	"0"	"2708"	"0"	"c.2708G>A"	"r.?"	"p.(Gly903Glu)"	"40"	"substitution"	"missense"	"Gly736Glu"
"0000702923"	"00005458"	"99"	"2708"	"0"	"2708"	"0"	"c.2708G>A"	"r.?"	"p.(Gly903Glu)"	"40"	"substitution"	"missense"	"Gly736Glu"
"0000702924"	"00005458"	"99"	"2708"	"0"	"2708"	"0"	"c.2708G>A"	"r.?"	"p.(Gly903Glu)"	"40"	"substitution"	"missense"	"Gly736Glu"
"0000702925"	"00005458"	"99"	"2726"	"0"	"2726"	"0"	"c.2726G>A"	"r.?"	"p.(Gly909Asp)"	"40"	"substitution"	"missense"	"Gly742Asp"
"0000702926"	"00005458"	"99"	"2726"	"0"	"2726"	"0"	"c.2726G>T"	"r.?"	"p.(Gly909Val)"	"40"	"substitution"	"missense"	"Gly742Val"
"0000702927"	"00005458"	"99"	"2735"	"0"	"2735"	"0"	"c.2735G>A"	"r.?"	"p.(Gly912Asp)"	"40"	"substitution"	"missense"	"Gly745Asp"
"0000702928"	"00005458"	"99"	"2735"	"0"	"2735"	"0"	"c.2735G>A"	"r.?"	"p.(Gly912Asp)"	"40"	"substitution"	"missense"	"Gly745Asp"
"0000702929"	"00005458"	"99"	"2735"	"0"	"2735"	"0"	"c.2735G>A"	"r.?"	"p.(Gly912Asp)"	"40"	"substitution"	"missense"	"Gly745Asp"
"0000702930"	"00005458"	"99"	"2735"	"0"	"2735"	"0"	"c.2735G>C"	"r.?"	"p.(Gly912Ala)"	"40"	"substitution"	"missense"	"Gly745Ala"
"0000702931"	"00005458"	"99"	"2735"	"0"	"2735"	"0"	"c.2735G>T"	"r.?"	"p.(Gly912Val)"	"40"	"substitution"	"missense"	"Gly745Val"
"0000702932"	"00005458"	"99"	"2753"	"0"	"2753"	"0"	"c.2753G>A"	"r.?"	"p.(Gly918Glu)"	"40"	"substitution"	"missense"	"Gly751Glu"
"0000702933"	"00005458"	"99"	"2753"	"0"	"2753"	"0"	"c.2753G>A"	"r.?"	"p.(Gly918Glu)"	"40"	"substitution"	"missense"	"Gly751Glu"
"0000702934"	"00005458"	"99"	"2753"	"0"	"2753"	"0"	"c.2753G>T"	"r.?"	"p.(Gly918Val)"	"40"	"substitution"	"missense"	"Gly751Val"
"0000702935"	"00005458"	"99"	"2770"	"0"	"2770"	"0"	"c.2770G>A"	"r.?"	"p.(Gly924Ser)"	"40"	"substitution"	"missense"	"Gly757Ser"
"0000702936"	"00005458"	"99"	"2770"	"0"	"2770"	"0"	"c.2770G>A"	"r.?"	"p.(Gly924Ser)"	"40"	"substitution"	"missense"	"Gly757Ser"
"0000702937"	"00005458"	"99"	"2770"	"0"	"2770"	"0"	"c.2770G>T"	"r.?"	"p.(Gly924Cys)"	"40"	"substitution"	"missense"	"Gly757Cys"
"0000702938"	"00005458"	"99"	"2770"	"0"	"2770"	"0"	"c.2770G>T"	"r.?"	"p.(Gly924Cys)"	"40"	"substitution"	"missense"	"Gly757Cys"
"0000702939"	"00005458"	"99"	"2771"	"0"	"2771"	"0"	"c.2771G>A"	"r.?"	"p.(Gly924Asp)"	"40"	"substitution"	"missense"	"Gly757Asp"
"0000702940"	"00005458"	"99"	"2771"	"0"	"2771"	"0"	"c.2771G>A"	"r.?"	"p.(Gly924Asp)"	"40"	"substitution"	"missense"	"Gly757Asp"
"0000702941"	"00005458"	"99"	"2771"	"0"	"2771"	"0"	"c.2771G>T"	"r.?"	"p.(Gly924Val)"	"40"	"substitution"	"missense"	"Gly757Val"
"0000702942"	"00005458"	"99"	"2780"	"0"	"2780"	"0"	"c.2780G>A"	"r.?"	"p.(Gly927Asp)"	"40"	"substitution"	"missense"	"Gly760Asp"
"0000702943"	"00005458"	"99"	"2789"	"0"	"2789"	"0"	"c.2789G>A"	"r.?"	"p.(Gly930Glu)"	"40"	"substitution"	"missense"	"Gly763Glu"
"0000702944"	"00005458"	"99"	"2797"	"0"	"2797"	"0"	"c.2797G>A"	"r.?"	"p.(Gly933Arg)"	"40"	"substitution"	"missense"	"Gly766Arg"
"0000702945"	"00005458"	"99"	"2806"	"0"	"2806"	"0"	"c.2806G>A"	"r.?"	"p.(Gly936Ser)"	"40"	"substitution"	"missense"	"Gly769Ser"
"0000702946"	"00005458"	"99"	"2806"	"0"	"2806"	"0"	"c.2806G>C"	"r.?"	"p.(Gly936Arg)"	"40"	"substitution"	"missense"	"Gly769Arg"
"0000702947"	"00005458"	"99"	"2807"	"0"	"2807"	"0"	"c.2807G>A"	"r.?"	"p.(Gly936Asp)"	"40"	"substitution"	"missense"	"Gly769Asp"
"0000702948"	"00005458"	"99"	"2815"	"0"	"2815"	"0"	"c.2815G>A"	"r.?"	"p.(Gly939Ser)"	"40"	"substitution"	"missense"	"Gly772Ser"
"0000702949"	"00005458"	"99"	"2815"	"0"	"2815"	"0"	"c.2815G>T"	"r.?"	"p.(Gly939Cys)"	"40"	"substitution"	"missense"	"Gly772Cys"
"0000702950"	"00005458"	"99"	"2816"	"0"	"2816"	"0"	"c.2816G>A"	"r.?"	"p.(Gly939Asp)"	"40"	"substitution"	"missense"	"Gly772Asp"
"0000702951"	"00005458"	"99"	"2816"	"0"	"2816"	"0"	"c.2816G>A"	"r.?"	"p.(Gly939Asp)"	"40"	"substitution"	"missense"	"Gly772Asp"
"0000702952"	"00005458"	"99"	"2816"	"0"	"2816"	"0"	"c.2816G>A"	"r.?"	"p.(Gly939Asp)"	"40"	"substitution"	"missense"	"Gly772Asp"
"0000702953"	"00005458"	"99"	"2823"	"1"	"2823"	"1"	"c.2823+1G>A"	"r.?"	"-"	"40i"	"substitution"	"splicing affected?"	""
"0000702954"	"00005458"	"91"	"2823"	"2"	"2823"	"2"	"c.2823+2T>A"	"r.?"	"-"	"40i"	"substitution"	"splicing affected?"	""
"0000702955"	"00005458"	"99"	"2824"	"-1"	"2824"	"-1"	"c.2824-1G>A"	"r.?"	"-"	"40i"	"substitution"	"splicing affected?"	""
"0000702956"	"00005458"	"59"	"2824"	"-1"	"2824"	"-1"	"c.2824-1G>A"	"r.?"	"-"	"40i"	"substitution"	"splicing affected?"	""
"0000702957"	"00005458"	"99"	"2824"	"0"	"2824"	"0"	"c.2824G>A"	"r.?"	"p.(Gly942Arg)"	"41"	"substitution"	"missense"	"Gly775Arg"
"0000702958"	"00005458"	"99"	"2825"	"0"	"2825"	"0"	"c.2825G>A"	"r.?"	"p.(Gly942Glu)"	"41"	"substitution"	"missense"	"Gly775Glu"
"0000702959"	"00005458"	"99"	"2833"	"0"	"2833"	"0"	"c.2833G>A"	"r.?"	"p.(Gly945Ser)"	"41"	"substitution"	"missense"	"Gly778Ser"
"0000702960"	"00005458"	"99"	"2842"	"0"	"2842"	"0"	"c.2842G>A"	"r.?"	"p.(Gly948Arg)"	"41"	"substitution"	"missense"	"Gly781Arg"
"0000702961"	"00005458"	"99"	"2860"	"0"	"2860"	"0"	"c.2860G>A"	"r.?"	"p.(Gly954Arg)"	"41"	"substitution"	"missense"	"Gly787Arg"
"0000702962"	"00005458"	"99"	"2861"	"0"	"2861"	"0"	"c.2861G>A"	"r.?"	"p.(Gly954Glu)"	"41"	"substitution"	"missense"	"Gly787Glu"
"0000702963"	"00005458"	"55"	"2867"	"0"	"2867"	"0"	"c.2867G>A"	"r.?"	"p.(Arg956Gln)"	"41"	"substitution"	"missense"	"Arg789Gln"
"0000702964"	"00005458"	"99"	"2869"	"0"	"2869"	"0"	"c.2869G>A"	"r.?"	"p.(Gly957Ser)"	"41"	"substitution"	"missense"	"Gly790Ser"
"0000702965"	"00005458"	"99"	"2869"	"0"	"2869"	"0"	"c.2869G>A"	"r.?"	"p.(Gly957Ser)"	"41"	"substitution"	"missense"	"Gly790Ser"
"0000702966"	"00005458"	"99"	"2869"	"0"	"2869"	"0"	"c.2869G>T"	"r.?"	"p.(Gly957Cys)"	"41"	"substitution"	"missense"	"Gly790Cys"
"0000702967"	"00005458"	"99"	"2870"	"0"	"2870"	"0"	"c.2870G>A"	"r.?"	"p.(Gly957Asp)"	"41"	"substitution"	"missense"	"Gly790Asp"
"0000702968"	"00005458"	"99"	"2870"	"0"	"2870"	"0"	"c.2870G>T"	"r.?"	"p.(Gly957Val)"	"41"	"substitution"	"missense"	"Gly790Val"
"0000702969"	"00005458"	"99"	"2870"	"0"	"2870"	"0"	"c.2870G>T"	"r.?"	"p.(Gly957Val)"	"41"	"substitution"	"missense"	"Gly790Val"
"0000702970"	"00005458"	"99"	"2879"	"0"	"2879"	"0"	"c.2879G>T"	"r.?"	"p.(Gly960Val)"	"41"	"substitution"	"missense"	"Gly793Val"
"0000702971"	"00005458"	"99"	"2887"	"0"	"2887"	"0"	"c.2887G>C"	"r.?"	"p.(Gly963Arg)"	"41"	"substitution"	"missense"	"Gly796Arg"
"0000702972"	"00005458"	"99"	"2887"	"0"	"2887"	"0"	"c.2887G>T"	"r.?"	"p.(Gly963Cys)"	"41"	"substitution"	"missense"	"Gly796Cys"
"0000702973"	"00005458"	"99"	"2888"	"0"	"2888"	"0"	"c.2888G>A"	"r.?"	"p.(Gly963Asp)"	"41"	"substitution"	"missense"	"Gly796Asp"
"0000702974"	"00005458"	"99"	"2896"	"0"	"2896"	"0"	"c.2896G>T"	"r.?"	"p.(Gly966Cys)"	"41"	"substitution"	"missense"	"Gly799Cys"
"0000702975"	"00005458"	"99"	"2896"	"0"	"2896"	"0"	"c.2896G>T"	"r.?"	"p.(Gly966Cys)"	"41"	"substitution"	"missense"	"Gly799Cys"
"0000702976"	"00005458"	"99"	"2897"	"0"	"2897"	"0"	"c.2897G>T"	"r.?"	"p.(Gly966Val)"	"41"	"substitution"	"missense"	"Gly799Val"
"0000702977"	"00005458"	"99"	"2897"	"0"	"2897"	"0"	"c.2897G>T"	"r.?"	"p.(Gly966Val)"	"41"	"substitution"	"missense"	"Gly799Val"
"0000702978"	"00005458"	"99"	"2905"	"0"	"2905"	"0"	"c.2905G>A"	"r.?"	"p.(Gly969Arg)"	"41"	"substitution"	"missense"	"Gly802Arg"
"0000702979"	"00005458"	"99"	"2914"	"0"	"2914"	"0"	"c.2914G>A"	"r.?"	"p.(Gly972Ser)"	"41"	"substitution"	"missense"	"Gly805Ser"
"0000702980"	"00005458"	"99"	"2915"	"0"	"2915"	"0"	"c.2915G>A"	"r.?"	"p.(Gly972Asp)"	"41"	"substitution"	"missense"	"Gly805Asp"
"0000702981"	"00005458"	"99"	"2915"	"0"	"2915"	"0"	"c.2915G>A"	"r.?"	"p.(Gly972Asp)"	"41"	"substitution"	"missense"	"Gly805Asp"
"0000702982"	"00005458"	"99"	"2915"	"0"	"2915"	"0"	"c.2915G>C"	"r.?"	"p.(Gly972Ala)"	"41"	"substitution"	"missense"	"Gly805Ala"
"0000702983"	"00005458"	"99"	"2915"	"0"	"2915"	"0"	"c.2915G>C"	"r.?"	"p.(Gly972Ala)"	"41"	"substitution"	"missense"	"Gly805Ala"
"0000702984"	"00005458"	"99"	"2924"	"0"	"2924"	"0"	"c.2924G>T"	"r.?"	"p.(Gly975Val)"	"41"	"substitution"	"missense"	"Gly808Val"
"0000702985"	"00005458"	"99"	"2924"	"0"	"2924"	"0"	"c.2924G>T"	"r.?"	"p.(Gly975Val)"	"41"	"substitution"	"missense"	"Gly808Val"
"0000702986"	"00005458"	"99"	"2924"	"0"	"2924"	"0"	"c.2924G>T"	"r.?"	"p.(Gly975Val)"	"41"	"substitution"	"missense"	"Gly808Val"
"0000702987"	"00005458"	"99"	"2924"	"0"	"2924"	"0"	"c.2924G>T"	"r.?"	"p.(Gly975Val)"	"41"	"substitution"	"missense"	"Gly808Val"
"0000702988"	"00005458"	"75"	"2927"	"0"	"2927"	"0"	"c.2927T>C"	"r.?"	"p.(Val976Ala)"	"41"	"substitution"	"missense"	"Val809Ala"
"0000702989"	"00005458"	"99"	"2931"	"0"	"2931"	"14"	"c.2931_2931+14del"	"r.?"	"-"	"41"	"deletion"	"splicing affected?"	""
"0000702990"	"00005458"	"99"	"2931"	"1"	"2931"	"1"	"c.2931+1G>A"	"r.?"	"-"	"41i"	"substitution"	"splicing affected?"	""
"0000702991"	"00005458"	"99"	"2931"	"1"	"2931"	"1"	"c.2931+1G>A"	"r.?"	"-"	"41i"	"substitution"	"splicing affected?"	""
"0000702992"	"00005458"	"99"	"2931"	"1"	"2931"	"1"	"c.2931+1G>A"	"r.?"	"-"	"41i"	"substitution"	"splicing affected?"	""
"0000702993"	"00005458"	"99"	"2931"	"1"	"2931"	"1"	"c.2931+1G>A"	"r.?"	"-"	"41i"	"substitution"	"splicing affected?"	""
"0000702994"	"00005458"	"99"	"2931"	"1"	"2931"	"1"	"c.2931+1G>A"	"r.?"	"-"	"41i"	"substitution"	"splicing affected?"	""
"0000702995"	"00005458"	"99"	"2931"	"1"	"2931"	"1"	"c.2931+1G>A"	"r.?"	"-"	"41i"	"substitution"	"splicing affected?"	""
"0000702996"	"00005458"	"99"	"2931"	"1"	"2931"	"1"	"c.2931+1G>A"	"r.?"	"-"	"41i"	"substitution"	"splicing affected?"	""
"0000702997"	"00005458"	"99"	"2931"	"1"	"2931"	"1"	"c.2931+1G>A"	"r.?"	"-"	"41i"	"substitution"	"splicing affected?"	""
"0000702998"	"00005458"	"99"	"2931"	"1"	"2931"	"1"	"c.2931+1G>T"	"r.?"	"-"	"41i"	"substitution"	"splicing affected?"	""
"0000702999"	"00005458"	"99"	"2931"	"2"	"2931"	"2"	"c.2931+2T>G"	"r.?"	"-"	"41i"	"substitution"	"splicing affected?"	""
"0000703000"	"00005458"	"99"	"2932"	"0"	"2932"	"0"	"c.2932G>C"	"r.?"	"p.(Gly978Arg)"	"42"	"substitution"	"missense"	"Gly811Arg"
"0000703001"	"00005458"	"99"	"2932"	"0"	"2932"	"0"	"c.2932G>T"	"r.?"	"p.(Gly978Cys)"	"42"	"substitution"	"missense"	"Gly811Cys"
"0000703002"	"00005458"	"99"	"2933"	"0"	"2933"	"0"	"c.2933G>A"	"r.?"	"p.(Gly978Asp)"	"42"	"substitution"	"missense"	"Gly811Asp"
"0000703003"	"00005458"	"99"	"2935"	"0"	"2935"	"0"	"c.2935G>T"	"r.?"	"p.(Glu979*)"	"42"	"substitution"	"nonsense"	"Glu812Ter"
"0000703004"	"00005458"	"97"	"2938"	"0"	"2947"	"0"	"c.2938_2947delinsCGGTCT"	"r.?"	"p.(Ser980Argfs*255)"	"42"	"delins"	"frameshift"	"Ser813Argfs*255"
"0000703005"	"00005458"	"99"	"2939"	"0"	"2947"	"0"	"c.2939_2947delinsCGGTCT"	"r.?"	"p.(Ser980_Pro983delinsThrValSer)"	"42"	"delins"	"delins"	""
"0000703006"	"00005458"	"99"	"2941"	"0"	"2941"	"0"	"c.2941G>A"	"r.?"	"p.(Gly981Arg)"	"42"	"substitution"	"missense"	"Gly814Arg"
"0000703007"	"00005458"	"99"	"2941"	"0"	"2941"	"0"	"c.2941G>C"	"r.?"	"p.(Gly981Arg)"	"42"	"substitution"	"missense"	"Gly814Arg"
"0000703008"	"00005458"	"99"	"2950"	"0"	"2950"	"0"	"c.2950G>A"	"r.?"	"p.(Gly984Arg)"	"42"	"substitution"	"missense"	"Gly817Arg"
"0000703009"	"00005458"	"99"	"2950"	"0"	"2951"	"0"	"c.2950_2951delinsAC"	"r.?"	"p.(Gly984Thr)"	"42"	"delins"	"missense"	"Gly817Thr"
"0000703010"	"00005458"	"99"	"2951"	"0"	"2951"	"0"	"c.2951G>A"	"r.?"	"p.(Gly984Glu)"	"42"	"substitution"	"missense"	"Gly817Glu"
"0000703011"	"00005458"	"11"	"2958"	"0"	"2958"	"0"	"c.2958C>T"	"r.?"	"p.(=)"	"42"	"substitution"	"silent"	""
"0000703012"	"00005458"	"99"	"2959"	"0"	"2959"	"0"	"c.2959G>A"	"r.?"	"p.(Gly987Ser)"	"42"	"substitution"	"missense"	"Gly820Ser"
"0000703013"	"00005458"	"99"	"2959"	"0"	"2959"	"0"	"c.2959G>A"	"r.?"	"p.(Gly987Ser)"	"42"	"substitution"	"missense"	"Gly820Ser"
"0000703014"	"00005458"	"99"	"2959"	"0"	"2959"	"0"	"c.2959G>A"	"r.?"	"p.(Gly987Ser)"	"42"	"substitution"	"missense"	"Gly820Ser"
"0000703015"	"00005458"	"97"	"2959"	"0"	"2959"	"0"	"c.2959G>A"	"r.?"	"p.(Gly987Ser)"	"42"	"substitution"	"missense"	"Gly820Ser"
"0000703016"	"00005458"	"99"	"2960"	"0"	"2960"	"0"	"c.2960G>A"	"r.?"	"p.(Gly987Asp)"	"42"	"substitution"	"missense"	"Gly820Asp"
"0000703017"	"00005458"	"99"	"2977"	"0"	"2977"	"0"	"c.2977G>T"	"r.?"	"p.(Gly993Cys)"	"42"	"substitution"	"missense"	"Gly826Cys"
"0000703018"	"00005458"	"99"	"2978"	"0"	"2978"	"0"	"c.2978G>A"	"r.?"	"p.(Gly993Asp)"	"42"	"substitution"	"missense"	"Gly826Asp"
"0000703019"	"00005458"	"99"	"2978"	"0"	"2978"	"0"	"c.2978G>A"	"r.?"	"p.(Gly993Asp)"	"42"	"substitution"	"missense"	"Gly826Asp"
"0000703020"	"00005458"	"99"	"2986"	"0"	"2986"	"0"	"c.2986G>A"	"r.?"	"p.(Gly996Arg)"	"42"	"substitution"	"missense"	"Gly829Arg"
"0000703021"	"00005458"	"99"	"2987"	"0"	"2987"	"0"	"c.2987G>A"	"r.?"	"p.(Gly996Glu)"	"42"	"substitution"	"missense"	"Gly829Glu"
"0000703022"	"00005458"	"99"	"2987"	"0"	"2987"	"0"	"c.2987G>A"	"r.?"	"p.(Gly996Glu)"	"42"	"substitution"	"missense"	"Gly829Glu"
"0000703023"	"00005458"	"99"	"2987"	"0"	"2987"	"0"	"c.2987G>T"	"r.?"	"p.(Gly996Val)"	"42"	"substitution"	"missense"	"Gly829Val"
"0000703024"	"00005458"	"99"	"2992"	"0"	"2992"	"0"	"c.2992C>T"	"r.?"	"p.(Gln998*)"	"42"	"substitution"	"nonsense"	"Gly831Ter"
"0000703025"	"00005458"	"99"	"2995"	"0"	"2995"	"0"	"c.2995G>A"	"r.?"	"p.(Gly999Ser)"	"42"	"substitution"	"missense"	"Gly832Ser"
"0000703026"	"00005458"	"99"	"2995"	"0"	"2995"	"0"	"c.2995G>C"	"r.?"	"p.(Gly999Arg)"	"42"	"substitution"	"missense"	"Gly832Arg"
"0000703027"	"00005458"	"99"	"2995"	"0"	"2995"	"0"	"c.2995G>T"	"r.?"	"p.(Gly999Cys)"	"42"	"substitution"	"missense"	"Gly832Cys"
"0000703028"	"00005458"	"99"	"2996"	"0"	"2996"	"0"	"c.2996G>A"	"r.?"	"p.(Gly999Asp)"	"42"	"substitution"	"missense"	"Gly832Asp"
"0000703029"	"00005458"	"99"	"2996"	"0"	"2996"	"0"	"c.2996G>A"	"r.?"	"p.(Gly999Asp)"	"42"	"substitution"	"missense"	"Gly832Asp"
"0000703030"	"00005458"	"99"	"3023"	"0"	"3023"	"0"	"c.3023G>A"	"r.?"	"p.(Gly1008Asp)"	"42"	"substitution"	"missense"	"Gly841Asp"
"0000703031"	"00005458"	"99"	"3032"	"0"	"3032"	"0"	"c.3032G>A"	"r.?"	"p.(Gly1011Glu)"	"42"	"substitution"	"missense"	"Gly844Glu"
"0000703032"	"00005458"	"99"	"3039"	"1"	"3039"	"1"	"c.3039+1G>A"	"r.?"	"-"	"42i"	"substitution"	"splicing affected?"	""
"0000703033"	"00005458"	"59"	"3039"	"1"	"3039"	"1"	"c.3039+1G>A"	"r.?"	"-"	"42i"	"substitution"	"splicing affected?"	""
"0000703034"	"00005458"	"99"	"3039"	"1"	"3039"	"1"	"c.3039+1G>A"	"r.?"	"-"	"42i"	"substitution"	"splicing affected?"	""
"0000703035"	"00005458"	"99"	"3039"	"1"	"3039"	"1"	"c.3039+1G>A"	"r.?"	"-"	"42i"	"substitution"	"splicing affected?"	""
"0000703036"	"00005458"	"99"	"3039"	"1"	"3039"	"1"	"c.3039+1G>A"	"r.?"	"-"	"42i"	"substitution"	"splicing affected?"	""
"0000703037"	"00005458"	"99"	"3039"	"5"	"3039"	"5"	"c.3039+5G>A"	"r.?"	"-"	"42i"	"substitution"	"splicing affected?"	""
"0000703038"	"00005458"	"99"	"3039"	"5"	"3039"	"5"	"c.3039+5G>A"	"r.?"	"-"	"42i"	"substitution"	"splicing affected?"	""
"0000703039"	"00005458"	"99"	"3039"	"5"	"3039"	"5"	"c.3039+5G>A"	"r.?"	"-"	"42i"	"substitution"	"splicing affected?"	""
"0000703040"	"00005458"	"99"	"3039"	"5"	"3039"	"5"	"c.3039+5G>A"	"r.?"	"-"	"42i"	"substitution"	"splicing affected?"	""
"0000703041"	"00005458"	"99"	"3039"	"5"	"3039"	"5"	"c.3039+5G>C"	"r.?"	"-"	"42i"	"substitution"	"splicing affected?"	""
"0000703042"	"00005458"	"99"	"3039"	"153"	"3525"	"222"	"c.3039+153_3525+222del"	"r.?"	"p.(Gly1014_Glu1175del)"	"42i"	"deletion"	"deletion, multi exon"	""
"0000703043"	"00005458"	"99"	"3039"	"622"	"3255"	"107"	"c.3039+622_3255+107del"	"r.?"	"p.(Gly1014_Pro1085del)"	"42i"	"deletion"	"deletion, multi exon"	""
"0000703044"	"00005458"	"99"	"3041"	"0"	"3041"	"0"	"c.3041G>A"	"r.?"	"p.(Gly1014Glu)"	"43"	"substitution"	"missense"	"Gly847Glu"
"0000703045"	"00005458"	"99"	"3041"	"0"	"3041"	"0"	"c.3041G>A"	"r.?"	"p.(Gly1014Glu)"	"43"	"substitution"	"missense"	"Gly847Glu"
"0000703046"	"00005458"	"99"	"3050"	"0"	"3050"	"0"	"c.3050G>A"	"r.?"	"p.(Gly1017Glu)"	"43"	"substitution"	"missense"	"Gly850Glu"
"0000703047"	"00005458"	"99"	"3059"	"0"	"3059"	"0"	"c.3059G>A"	"r.?"	"p.(Gly1020Asp)"	"43"	"substitution"	"missense"	"Gly853Asp"
"0000703048"	"00005458"	"99"	"3061"	"-3063"	"3061"	"-3063"	"c.3061-3063del"	"r.?"	"p.(Lys1021del)"	"43"	"deletion"	"missense"	""
"0000703049"	"00005458"	"37"	"3061"	"0"	"3061"	"0"	"c.3061C>A"	"r.?"	"p.(Leu1021Ile)"	"43"	"substitution"	"missense"	"p.Leu854Ile"
"0000703050"	"00005458"	"99"	"3070"	"0"	"3070"	"0"	"c.3070C>T"	"r.?"	"p.(Arg1024*)"	"43"	"substitution"	"nonsense"	"Arg857Ter"
"0000703051"	"00005458"	"99"	"3070"	"0"	"3070"	"0"	"c.3070C>T"	"r.?"	"p.(Arg1024*)"	"43"	"substitution"	"nonsense"	"Arg857Ter"
"0000703052"	"00005458"	"99"	"3093"	"1"	"3093"	"1"	"c.3093+1G>A"	"r.?"	"-"	"43i"	"substitution"	"splicing affected?"	""
"0000703053"	"00005458"	"99"	"3093"	"2"	"3093"	"2"	"c.3093+2T>C"	"r.?"	"-"	"43i"	"substitution"	"splicing affected?"	""
"0000703054"	"00005458"	"99"	"3093"	"2"	"3093"	"2"	"c.3093+2T>C"	"r.?"	"-"	"43i"	"substitution"	"splicing affected?"	""
"0000703055"	"00005458"	"99"	"3093"	"2"	"3093"	"2"	"c.3093+2T>C"	"r.?"	"-"	"43i"	"substitution"	"splicing affected?"	""
"0000703056"	"00005458"	"59"	"3093"	"2"	"3093"	"2"	"c.3093+2T>C"	"r.?"	"-"	"43i"	"substitution"	"splicing affected?"	""
"0000703057"	"00005458"	"99"	"3093"	"2"	"3093"	"2"	"c.3093+2T>C"	"r.?"	"-"	"43i"	"substitution"	"splicing affected?"	""
"0000703058"	"00005458"	"99"	"3093"	"2"	"3093"	"2"	"c.3093+2T>C"	"r.?"	"-"	"43i"	"substitution"	"splicing affected?"	""
"0000703059"	"00005458"	"99"	"3093"	"2"	"3093"	"2"	"c.3093+2T>G"	"r.?"	"-"	"43i"	"substitution"	"splicing affected?"	""
"0000703060"	"00005458"	"99"	"3095"	"0"	"3095"	"0"	"c.3095G>T"	"r.?"	"p.(Gly1032Val)"	"44"	"substitution"	"missense"	"Gly865Val"
"0000703061"	"00005458"	"99"	"3103"	"0"	"3103"	"0"	"c.3103G>T"	"r.?"	"p.(Gly1035Cys)"	"44"	"substitution"	"missense"	"Gly868Cys"
"0000703062"	"00005458"	"99"	"3104"	"0"	"3104"	"0"	"c.3104G>T"	"r.?"	"p.(Gly1035Val)"	"44"	"substitution"	"missense"	"Gly868Val"
"0000703063"	"00005458"	"99"	"3113"	"0"	"3113"	"0"	"c.3113G>A"	"r.?"	"p.(Gly1038Asp)"	"44"	"substitution"	"missense"	"Gly871Asp"
"0000703064"	"00005458"	"99"	"3122"	"0"	"3122"	"0"	"c.3122G>A"	"r.?"	"p.(Gly1041Asp)"	"44"	"substitution"	"missense"	"Gly874Asp"
"0000703065"	"00005458"	"99"	"3122"	"0"	"3122"	"0"	"c.3122G>T"	"r.?"	"p.(Gly1041Val)"	"44"	"substitution"	"missense"	"Gly874Val"
"0000703066"	"00005458"	"99"	"3124"	"0"	"3141"	"0"	"c.3124_3141dup"	"r.?"	"p.(Ala1042_Gly1047dup)"	"44"	"duplication"	"duplication"	"Ala875_Gly880dup"
"0000703067"	"00005458"	"99"	"3131"	"0"	"3131"	"0"	"c.3131G>A"	"r.?"	"p.(Gly1044Asp)"	"44"	"substitution"	"missense"	"Gly877Asp"
"0000703068"	"00005458"	"55"	"3133"	"0"	"3133"	"0"	"c.3133G>A"	"r.?"	"p.(Ala1045Thr)"	"44"	"substitution"	"missense"	"Ala878Thr"
"0000703069"	"00005458"	"11"	"3133"	"0"	"3133"	"0"	"c.3133G>A"	"r.?"	"p.(Ala1045Thr)"	"44"	"substitution"	"missense"	"Ala878Thr"
"0000703070"	"00005458"	"99"	"3140"	"0"	"3140"	"0"	"c.3140G>A"	"r.?"	"p.(Gly1047Asp)"	"44"	"substitution"	"missense"	"Gly880Asp"
"0000703071"	"00005458"	"99"	"3140"	"0"	"3140"	"0"	"c.3140G>A"	"r.?"	"p.(Gly1047Asp)"	"44"	"substitution"	"missense"	"Gly880Asp"
"0000703072"	"00005458"	"99"	"3149"	"0"	"3149"	"0"	"c.3149G>A"	"r.?"	"p.(Gly1050Asp)"	"44"	"substitution"	"missense"	"Gly883Asp"
"0000703073"	"00005458"	"99"	"3149"	"0"	"3149"	"0"	"c.3149G>T"	"r.?"	"p.(Gly1050Val)"	"44"	"substitution"	"missense"	"Gly883Val"
"0000703074"	"00005458"	"99"	"3149"	"0"	"3149"	"0"	"c.3149G>T"	"r.?"	"p.(Gly1050Val)"	"44"	"substitution"	"missense"	"Gly883Val"
"0000703075"	"00005458"	"99"	"3157"	"0"	"3157"	"0"	"c.3157G>C"	"r.?"	"p.(Gly1053Arg)"	"44"	"substitution"	"missense"	"Gly886Arg"
"0000703076"	"00005458"	"99"	"3158"	"0"	"3158"	"0"	"c.3158G>A"	"r.?"	"p.(Gly1053Asp)"	"44"	"substitution"	"missense"	"Gly886Asp"
"0000703077"	"00005458"	"99"	"3166"	"0"	"3166"	"0"	"c.3166G>A"	"r.?"	"p.(Gly1056Ser)"	"44"	"substitution"	"missense"	"Gly889Ser"
"0000703078"	"00005458"	"99"	"3167"	"0"	"3167"	"0"	"c.3167G>A"	"r.?"	"p.(Gly1056Asp)"	"44"	"substitution"	"missense"	"Gly889Asp"
"0000703079"	"00005458"	"99"	"3167"	"0"	"3167"	"0"	"c.3167G>A"	"r.?"	"p.(Gly1056Asp)"	"44"	"substitution"	"missense"	"Gly889Asp"
"0000703080"	"00005458"	"99"	"3175"	"0"	"3175"	"0"	"c.3175G>A"	"r.?"	"p.(Gly1059Arg)"	"44"	"substitution"	"missense"	"Gly892Arg"
"0000703081"	"00005458"	"99"	"3176"	"0"	"3176"	"0"	"c.3176G>T"	"r.?"	"p.(Gly1059Val)"	"44"	"substitution"	"missense"	"Gly892Val"
"0000703082"	"00005458"	"99"	"3193"	"0"	"3193"	"0"	"c.3193G>A"	"r.?"	"p.(Gly1065Arg)"	"44"	"substitution"	"missense"	"Gly898Arg"
"0000703083"	"00005458"	"33"	"3199"	"0"	"3199"	"0"	"c.3199A>T"	"r.?"	"p.(Ser1067Cys)"	"44"	"substitution"	"missense"	"Ser900Cys"
"0000703084"	"00005458"	"77"	"3201"	"2"	"3201"	"2"	"c.3201+2T>C"	"r.?"	"-"	"44i"	"substitution"	"splicing affected?"	""
"0000703085"	"00005458"	"97"	"3201"	"2"	"3201"	"2"	"c.3201+2T>C"	"r.?"	"-"	"44i"	"substitution"	"splicing affected?"	""
"0000703086"	"00005458"	"99"	"3201"	"44"	"3255"	"103"	"c.3201+44_3255+103del"	"r.?"	"p.(Gly1068_Pro1085del)"	"44i"	"deletion"	"deletion"	""
"0000703087"	"00005458"	"99"	"3202"	"-2"	"3202"	"-2"	"c.3202-2A>G"	"r.?"	"-"	"44i"	"substitution"	"splicing affected?"	""
"0000703088"	"00005458"	"99"	"3202"	"-2"	"3202"	"-2"	"c.3202-2A>G"	"r.?"	"-"	"44i"	"substitution"	"splicing affected?"	""
"0000703089"	"00005458"	"99"	"3202"	"-2"	"3202"	"-2"	"c.3202-2A>G"	"r.?"	"-"	"44i"	"substitution"	"splicing affected?"	""
"0000703090"	"00005458"	"99"	"3203"	"0"	"3203"	"0"	"c.3203G>T"	"r.?"	"p.(Gly1068Val)"	"45"	"substitution"	"missense"	"Gly901Val"
"0000703091"	"00005458"	"99"	"3212"	"0"	"3212"	"0"	"c.3212G>T"	"r.?"	"p.(Gly1071Val)"	"45"	"substitution"	"missense"	"Gly904Val"
"0000703092"	"00005458"	"99"	"3219"	"0"	"3222"	"0"	"c.3219_3222dup"	"r.?"	"p.(Ala1075Trpfs*20)"	"45"	"duplication"	"frameshift"	""
"0000703093"	"00005458"	"99"	"3220"	"0"	"3220"	"0"	"c.3220G>A"	"r.?"	"p.(Gly1074Ser)"	"45"	"substitution"	"missense"	"Gly907Ser"
"0000703094"	"00005458"	"99"	"3221"	"0"	"3235"	"0"	"c.3221_3235dup"	"r.?"	"p.(Gly1074_Pro1078dup)"	"45"	"duplication"	"insertion"	""
"0000703095"	"00005458"	"99"	"3223"	"0"	"3240"	"0"	"c.3223_3240del"	"r.?"	"p.(Ala1075_Gly1080delAPGPAG)"	"45"	"deletion"	"deletion"	""
"0000703096"	"00005458"	"99"	"3229"	"0"	"3229"	"0"	"c.3229G>A"	"r.?"	"p.(Gly1077Ser)"	"45"	"substitution"	"missense"	"Gly910Ser"
"0000703097"	"00005458"	"99"	"3230"	"0"	"3230"	"0"	"c.3230G>T"	"r.?"	"p.(Gly1077Val)"	"45"	"substitution"	"missense"	"Gly910Val"
"0000703098"	"00005458"	"99"	"3230"	"0"	"3230"	"0"	"c.3230G>T"	"r.?"	"p.(Gly1077Val)"	"45"	"substitution"	"missense"	"Gly910Val"
"0000703099"	"00005458"	"99"	"3239"	"0"	"3239"	"0"	"c.3239G>A"	"r.?"	"p.(Gly1080Asp)"	"45"	"substitution"	"missense"	"Gly913Asp"
"0000703100"	"00005458"	"77"	"3245"	"0"	"3245"	"0"	"c.3245G>A"	"r.?"	"p.(Arg1082Gln)"	"45"	"substitution"	"missense"	"Arg915Gln"
"0000703101"	"00005458"	"99"	"3255"	"1"	"3255"	"1"	"c.3255+1G>A"	"r.?"	"-"	"45i"	"substitution"	"splicing affected?"	""
"0000703102"	"00005458"	"99"	"3255"	"1"	"3255"	"1"	"c.3255+1G>A"	"r.?"	"-"	"45i"	"substitution"	"splicing affected?"	""
"0000703103"	"00005458"	"99"	"3255"	"5"	"3255"	"5"	"c.3255+5G>A"	"r.?"	"-"	"45i"	"substitution"	"splicing affected?"	""
"0000703104"	"00005458"	"99"	"3255"	"5"	"3255"	"5"	"c.3255+5G>A"	"r.?"	"-"	"45i"	"substitution"	"splicing affected?"	""
"0000703105"	"00005458"	"99"	"3255"	"5"	"3255"	"5"	"c.3255+5G>A"	"r.?"	"-"	"45i"	"substitution"	"splicing affected?"	""
"0000703106"	"00005458"	"99"	"3256"	"-43"	"3256"	"-43"	"c.3256-43T>G"	"r.?"	"-"	"45i"	"substitution"	"splicing affected?"	""
"0000703107"	"00005458"	"99"	"3256"	"0"	"3256"	"0"	"c.3256G>T"	"r.?"	"p.(Gly1086Cys)"	"46"	"substitution"	"missense"	"Gly919Cys"
"0000703108"	"00005458"	"99"	"3257"	"0"	"3266"	"0"	"c.3257_3266del"	"r.?"	"p.(Gly1086Alafs*147)"	"46"	"deletion"	"frameshift"	""
"0000703109"	"00005458"	"99"	"3257"	"0"	"3266"	"0"	"c.3257_3266del"	"r.?"	"p.(Gly1086Alafs*147)"	"46"	"deletion"	"frameshift"	"Gly919Alafs*147"
"0000703110"	"00005458"	"99"	"3266"	"0"	"3266"	"0"	"c.3266G>A"	"r.?"	"p.(Gly1089Asp)"	"46"	"substitution"	"missense"	"Gly922Asp"
"0000703111"	"00005458"	"99"	"3275"	"0"	"3275"	"0"	"c.3275G>T"	"r.?"	"p.(Gly1092Val)"	"46"	"substitution"	"missense"	"Gly925Val"
"0000703112"	"00005458"	"99"	"3284"	"0"	"3284"	"0"	"c.3284G>A"	"r.?"	"p.(Gly1095Asp)"	"46"	"substitution"	"missense"	"Gly928Asp"
"0000703113"	"00005458"	"99"	"3284"	"0"	"3284"	"0"	"c.3284G>A"	"r.?"	"p.(Gly1095Asp)"	"46"	"substitution"	"missense"	"Gly928Asp"
"0000703114"	"00005458"	"99"	"3293"	"0"	"3293"	"0"	"c.3293G>A"	"r.?"	"p.(Gly1098Asp)"	"46"	"substitution"	"missense"	"Gly931Asp"
"0000703115"	"00005458"	"99"	"3293"	"0"	"3293"	"0"	"c.3293G>T"	"r.?"	"p.(Gly1098Val)"	"46"	"substitution"	"missense"	"Gly931Val"
"0000703116"	"00005458"	"99"	"3301"	"0"	"3301"	"0"	"c.3301G>A"	"r.?"	"p.(Gly1101Arg)"	"46"	"substitution"	"missense"	"Gly934Arg"
"0000703117"	"00005458"	"99"	"3301"	"0"	"3301"	"0"	"c.3301G>A"	"r.?"	"p.(Gly1101Arg)"	"46"	"substitution"	"missense"	"Gly934Arg"
"0000703118"	"00005458"	"99"	"3302"	"0"	"3302"	"0"	"c.3302G>A"	"r.?"	"p.(Gly1101Glu)"	"46"	"substitution"	"missense"	"Gly934Glu"
"0000703119"	"00005458"	"99"	"3311"	"0"	"3311"	"0"	"c.3311G>C"	"r.?"	"p.(Gly1104Ala)"	"46"	"substitution"	"missense"	"Gly937Ala"
"0000703120"	"00005458"	"99"	"3319"	"0"	"3319"	"0"	"c.3319G>A"	"r.?"	"p.(Gly1107Arg)"	"46"	"substitution"	"missense"	"Gly940Arg"
"0000703121"	"00005458"	"99"	"3325"	"0"	"3325"	"0"	"c.3325C>T"	"r.?"	"p.(Arg1109*)"	"46"	"substitution"	"nonsense"	"Arg942Ter"
"0000703122"	"00005458"	"99"	"3347"	"0"	"3347"	"0"	"c.3347G>T"	"r.?"	"p.(Gly1116Val)"	"46"	"substitution"	"missense"	"Gly949Val"
"0000703123"	"00005458"	"99"	"3356"	"0"	"3356"	"0"	"c.3356G>A"	"r.?"	"p.(Gly1119Asp)"	"46"	"substitution"	"missense"	"Gly952Asp"
"0000703124"	"00005458"	"99"	"3364"	"-2"	"3364"	"-2"	"c.3364-2A>C"	"r.?"	"-"	"46i"	"substitution"	"splicing affected?"	""
"0000703125"	"00005458"	"99"	"3364"	"-2"	"3364"	"-2"	"c.3364-2A>C"	"r.?"	"-"	"46i"	"substitution"	"splicing affected?"	""
"0000703126"	"00005458"	"99"	"3364"	"-2"	"3364"	"-2"	"c.3364-2A>G"	"r.?"	"-"	"46i"	"substitution"	"splicing affected?"	""
"0000703127"	"00005458"	"99"	"3364"	"-1"	"3364"	"-1"	"c.3364-1G>C"	"r.?"	"-"	"46i"	"substitution"	"splicing affected?"	""
"0000703128"	"00005458"	"99"	"3383"	"0"	"3383"	"0"	"c.3383G>A"	"r.?"	"p.(Gly1128Asp)"	"47"	"substitution"	"missense"	"Gly961Asp"
"0000703129"	"00005458"	"99"	"3391"	"0"	"3391"	"0"	"c.3391G>A"	"r.?"	"p.(Gly1131Ser)"	"47"	"substitution"	"missense"	"Gly964Ser"
"0000703130"	"00005458"	"99"	"3410"	"0"	"3410"	"0"	"c.3410G>A"	"r.?"	"p.(Gly1137Asp)"	"47"	"substitution"	"missense"	"Gly970Asp"
"0000703131"	"00005458"	"99"	"3410"	"0"	"3410"	"0"	"c.3410G>A"	"r.?"	"p.(Gly1137Asp)"	"47"	"substitution"	"missense"	"Gly970Asp"
"0000703132"	"00005458"	"99"	"3410"	"0"	"3410"	"0"	"c.3410G>A"	"r.?"	"p.(Gly1137Asp)"	"47"	"substitution"	"missense"	"Gly970Asp"
"0000703133"	"00005458"	"99"	"3410"	"0"	"3410"	"0"	"c.3410G>A"	"r.?"	"p.(Gly1137Asp)"	"47"	"substitution"	"missense"	"Gly970Asp"
"0000703134"	"00005458"	"99"	"3417"	"1"	"3417"	"1"	"c.3417+1G>A"	"r.?"	"-"	"47i"	"substitution"	"splicing affected?"	""
"0000703135"	"00005458"	"99"	"3417"	"1"	"3417"	"1"	"c.3417+1G>A"	"r.?"	"-"	"47i"	"substitution"	"splicing affected?"	""
"0000703136"	"00005458"	"99"	"3417"	"1"	"3417"	"1"	"c.3417+1G>C"	"r.?"	"-"	"47i"	"substitution"	"splicing affected?"	""
"0000703137"	"00005458"	"99"	"3417"	"1"	"3417"	"1"	"c.3417+1G>C"	"r.?"	"-"	"47i"	"substitution"	"splicing affected?"	""
"0000703138"	"00005458"	"99"	"3417"	"1"	"3417"	"1"	"c.3417+1G>T"	"r.?"	"-"	"47i"	"substitution"	"splicing affected?"	""
"0000703139"	"00005458"	"99"	"3417"	"4"	"3417"	"5"	"c.3417+4_3417+5del"	"r.spl?"	"p.?"	"47i"	"deletion"	"splicing affected?"	""
"0000703140"	"00005458"	"99"	"3417"	"5"	"3417"	"5"	"c.3417+5G>A"	"r.?"	"-"	"47i"	"substitution"	"splicing affected?"	""
"0000703141"	"00005458"	"99"	"3417"	"5"	"3417"	"5"	"c.3417+5G>A"	"r.?"	"-"	"47i"	"substitution"	"splicing affected?"	""
"0000703142"	"00005458"	"99"	"3418"	"-2"	"3418"	"-2"	"c.3418-2A>C"	"r.?"	"-"	"47i"	"substitution"	"splicing affected?"	""
"0000703143"	"00005458"	"99"	"3418"	"-2"	"3418"	"-2"	"c.3418-2A>G"	"r.?"	"-"	"47i"	"substitution"	"splicing affected?"	""
"0000703144"	"00005458"	"77"	"3418"	"-2"	"3418"	"-2"	"c.3418-2A>G"	"r.?"	"-"	"47i"	"substitution"	"splicing affected?"	""
"0000703145"	"00005458"	"99"	"3418"	"-2"	"3418"	"-2"	"c.3418-2A>T"	"r.?"	"-"	"47i"	"substitution"	"splicing affected?"	""
"0000703146"	"00005458"	"99"	"3418"	"-1"	"3418"	"-1"	"c.3418-1G>T"	"r.?"	"-"	"47i"	"substitution"	"splicing affected?"	""
"0000703147"	"00005458"	"99"	"3419"	"0"	"3419"	"0"	"c.3419G>A"	"r.?"	"p.(Gly1140Glu)"	"48"	"substitution"	"missense"	"Gly973Glu"
"0000703148"	"00005458"	"99"	"3428"	"0"	"3428"	"0"	"c.3428G>A"	"r.?"	"p.(Gly1143Glu)"	"48"	"substitution"	"missense"	"Gly976Glu"
"0000703149"	"00005458"	"99"	"3430"	"0"	"3456"	"0"	"c.3430_3456del"	"r.?"	"p.(Pro1144_Gly1152del)"	"48"	"deletion"	"deletion"	""
"0000703150"	"00005458"	"99"	"3437"	"0"	"3437"	"0"	"c.3437G>A"	"r.?"	"p.(Gly1146Glu)"	"48"	"substitution"	"missense"	"Gly979Glu"
"0000703151"	"00005458"	"99"	"3440"	"0"	"3466"	"0"	"c.3440_3466del"	"r.?"	"p.(Pro1147_Gly1155del)"	"48"	"deletion"	"deletion"	""
"0000703152"	"00005458"	"99"	"3441"	"0"	"3485"	"0"	"c.3441_3485dup"	"r.?"	"p.(Lys1150_Gly1164dup)"	"48"	"duplication"	"duplication"	""
"0000703153"	"00005458"	"99"	"3446"	"0"	"3446"	"0"	"c.3446G>A"	"r.?"	"p.(Gly1149Asp)"	"48"	"substitution"	"missense"	"Gly982Asp"
"0000703154"	"00005458"	"99"	"3446"	"0"	"3446"	"0"	"c.3446G>A"	"r.?"	"p.(Gly1149Asp)"	"48"	"substitution"	"missense"	"Gly982Asp"
"0000703155"	"00005458"	"99"	"3472"	"0"	"3472"	"0"	"c.3472G>C"	"r.?"	"p.(Gly1158Arg)"	"48"	"substitution"	"missense"	"Gly991Arg"
"0000703156"	"00005458"	"99"	"3473"	"0"	"3473"	"0"	"c.3473G>A"	"r.?"	"p.(Gly1158Asp)"	"48"	"substitution"	"missense"	"Gly991Asp"
"0000703157"	"00005458"	"99"	"3482"	"0"	"3482"	"0"	"c.3482G>A"	"r.?"	"p.(Gly1161Glu)"	"48"	"substitution"	"missense"	"Gly994Glu"
"0000703158"	"00005458"	"99"	"3482"	"0"	"3482"	"0"	"c.3482G>A"	"r.?"	"p.(Gly1161Glu)"	"48"	"substitution"	"missense"	"Gly994Glu"
"0000703159"	"00005458"	"99"	"3482"	"0"	"3482"	"0"	"c.3482G>T"	"r.?"	"p.(Gly1161Val)"	"48"	"substitution"	"missense"	"Gly994Val"
"0000703160"	"00005458"	"99"	"3486"	"0"	"3489"	"0"	"c.3486_3489delinsT"	"r.?"	"p.(Pro1163del)"	"48"	"delins"	"delins"	"Pro996del"
"0000703161"	"00005458"	"99"	"3490"	"0"	"3490"	"0"	"c.3490G>A"	"r.?"	"p.(Gly1164Arg)"	"48"	"substitution"	"missense"	"Gly997Arg"
"0000703162"	"00005458"	"99"	"3490"	"0"	"3490"	"0"	"c.3490G>A"	"r.?"	"p.(Gly1164Arg)"	"48"	"substitution"	"missense"	"Gly997Arg"
"0000703163"	"00005458"	"99"	"3490"	"0"	"3490"	"0"	"c.3490G>A"	"r.?"	"p.(Gly1164Arg)"	"48"	"substitution"	"missense"	"Gly997Arg"
"0000703164"	"00005458"	"99"	"3490"	"0"	"3490"	"0"	"c.3490G>C"	"r.?"	"p.(Gly1164Arg)"	"48"	"substitution"	"missense"	"Gly997Arg"
"0000703165"	"00005458"	"99"	"3490"	"0"	"3490"	"0"	"c.3490G>T"	"r.?"	"p.(Gly1164Trp)"	"48"	"substitution"	"missense"	"Gly997Trp"
"0000703166"	"00005458"	"99"	"3490"	"0"	"3490"	"0"	"c.3490G>T"	"r.?"	"p.(Gly1164Trp)"	"48"	"substitution"	"missense"	"Gly997Trp"
"0000703167"	"00005458"	"99"	"3490"	"0"	"3490"	"0"	"c.3490G>T"	"r.?"	"p.(Gly1164Trp)"	"48"	"substitution"	"missense"	"Gly997Trp"
"0000703168"	"00005458"	"99"	"3491"	"0"	"3491"	"0"	"c.3491G>A"	"r.?"	"p.(Gly1164Glu)"	"48"	"substitution"	"missense"	"Gly997Glu"
"0000703169"	"00005458"	"99"	"3491"	"0"	"3491"	"0"	"c.3491G>A"	"r.?"	"p.(Gly1164Glu)"	"48"	"substitution"	"missense"	"Gly997Glu"
"0000703170"	"00005458"	"99"	"3491"	"0"	"3491"	"0"	"c.3491G>A"	"r.?"	"p.(Gly1164Glu)"	"48"	"substitution"	"missense"	"Gly997Glu"
"0000703171"	"00005458"	"99"	"3491"	"0"	"3491"	"0"	"c.3491G>A"	"r.?"	"p.(Gly1164Glu)"	"48"	"substitution"	"missense"	"Gly997Glu"
"0000703172"	"00005458"	"99"	"3491"	"0"	"3491"	"0"	"c.3491G>T"	"r.?"	"p.(Gly1164Val)"	"48"	"substitution"	"missense"	"Gly997Val"
"0000703173"	"00005458"	"99"	"3496"	"0"	"3496"	"0"	"c.3496C>T"	"r.?"	"p.(Arg1166*)"	"48"	"substitution"	"nonsense"	"Arg999Ter"
"0000703174"	"00005458"	"99"	"3499"	"0"	"3499"	"0"	"c.3499G>C"	"r.?"	"p.(Gly1167Arg)"	"48"	"substitution"	"missense"	"Gly1000Arg"
"0000703175"	"00005458"	"99"	"3499"	"0"	"3499"	"0"	"c.3499G>T"	"r.?"	"p.(Gly1167Cys)"	"48"	"substitution"	"missense"	"Gly1000Cys"
"0000703176"	"00005458"	"99"	"3499"	"0"	"3499"	"0"	"c.3499G>T"	"r.?"	"p.(Gly1167Cys)"	"48"	"substitution"	"missense"	"Gly1000Cys"
"0000703177"	"00005458"	"99"	"3500"	"0"	"3500"	"0"	"c.3500G>T"	"r.?"	"p.(Gly1167Val)"	"48"	"substitution"	"missense"	"Gly1000Val"
"0000703178"	"00005458"	"99"	"3500"	"0"	"3500"	"0"	"c.3500G>T"	"r.?"	"p.(Gly1167Val)"	"48"	"substitution"	"missense"	"Gly1000Val"
"0000703179"	"00005458"	"99"	"3508"	"0"	"3508"	"0"	"c.3508G>A"	"r.?"	"p.(Gly1170Ser)"	"48"	"substitution"	"missense"	"Gly1003Ser"
"0000703180"	"00005458"	"99"	"3508"	"0"	"3508"	"0"	"c.3508G>A"	"r.?"	"p.(Gly1170Ser)"	"48"	"substitution"	"missense"	"Gly1003Ser"
"0000703181"	"00005458"	"19"	"3508"	"0"	"3508"	"0"	"c.3508G>A"	"r.?"	"p.(Gly1170Ser)"	"48"	"substitution"	"missense"	"Gly1003Ser"
"0000703182"	"00005458"	"99"	"3509"	"0"	"3509"	"0"	"c.3509G>A"	"r.?"	"p.(Gly1170Asp)"	"48"	"substitution"	"missense"	"Gly1003Asp"
"0000703183"	"00005458"	"99"	"3509"	"0"	"3509"	"0"	"c.3509G>A"	"r.?"	"p.(Gly1170Asp)"	"48"	"substitution"	"missense"	"Gly1003Asp"
"0000703184"	"00005458"	"99"	"3509"	"0"	"3509"	"0"	"c.3509G>A"	"r.?"	"p.(Gly1170Asp)"	"48"	"substitution"	"missense"	"Gly1003Asp"
"0000703185"	"00005458"	"99"	"3509"	"0"	"3509"	"0"	"c.3509G>A"	"r.?"	"p.(Gly1170Asp)"	"48"	"substitution"	"missense"	"Gly1003Asp"
"0000703186"	"00005458"	"99"	"3509"	"0"	"3509"	"0"	"c.3509G>A"	"r.?"	"p.(Gly1170Asp)"	"48"	"substitution"	"missense"	"Gly1003Asp"
"0000703187"	"00005458"	"99"	"3509"	"0"	"3509"	"0"	"c.3509G>A"	"r.?"	"p.(Gly1170Asp)"	"48"	"substitution"	"missense"	"Gly1003Asp"
"0000703188"	"00005458"	"99"	"3509"	"0"	"3509"	"0"	"c.3509G>A"	"r.?"	"p.(Gly1170Asp)"	"48"	"substitution"	"missense"	"Gly1003Asp"
"0000703189"	"00005458"	"99"	"3509"	"0"	"3509"	"0"	"c.3509G>T"	"r.?"	"p.(Gly1170Val)"	"48"	"substitution"	"missense"	"Gly1003Val"
"0000703190"	"00005458"	"97"	"3511"	"0"	"3511"	"0"	"c.3511G>A"	"r.?"	"p.(Glu1171Lys)"	"48"	"substitution"	"missense"	""
"0000703191"	"00005458"	"57"	"3511"	"0"	"3511"	"0"	"c.3511G>A"	"r.?"	"p.(Glu1171Lys)"	"48"	"substitution"	"missense"	""
"0000703192"	"00005458"	"99"	"3517"	"0"	"3517"	"0"	"c.3517G>A"	"r.?"	"p.(Gly1173Arg)"	"48"	"substitution"	"missense"	"Gly1006Arg"
"0000703193"	"00005458"	"99"	"3517"	"0"	"3517"	"0"	"c.3517G>A"	"r.?"	"p.(Gly1173Arg)"	"48"	"substitution"	"missense"	"Gly1006Arg"
"0000703194"	"00005458"	"99"	"3517"	"0"	"3517"	"0"	"c.3517G>C"	"r.?"	"p.(Gly1173Arg)"	"48"	"substitution"	"missense"	"Gly1006Arg"
"0000703195"	"00005458"	"99"	"3518"	"0"	"3518"	"0"	"c.3518G>A"	"r.?"	"p.(Gly1173Glu)"	"48"	"substitution"	"missense"	"Gly1006Glu"
"0000703196"	"00005458"	"99"	"3518"	"0"	"3518"	"0"	"c.3518G>A"	"r.?"	"p.(Gly1173Glu)"	"48"	"substitution"	"missense"	"Gly1006Glu"
"0000703197"	"00005458"	"99"	"3518"	"0"	"3518"	"0"	"c.3518G>A"	"r.?"	"p.(Gly1173Glu)"	"48"	"substitution"	"missense"	"Gly1006Glu"
"0000703198"	"00005458"	"99"	"3518"	"0"	"3518"	"0"	"c.3518G>T"	"r.?"	"p.(Gly1173Val)"	"48"	"substitution"	"missense"	"Gly1006Val"
"0000703199"	"00005458"	"99"	"3525"	"1"	"3525"	"1"	"c.3525+1G>A"	"r.?"	"-"	"48i"	"substitution"	"splicing affected?"	""
"0000703200"	"00005458"	"99"	"3526"	"0"	"3526"	"0"	"c.3526G>A"	"r.?"	"p.(Gly1176Ser)"	"49"	"substitution"	"missense"	"Gly1009Ser"
"0000703201"	"00005458"	"99"	"3527"	"0"	"3527"	"0"	"c.3527G>A"	"r.?"	"p.(Gly1176Asp)"	"49"	"substitution"	"missense"	"Gly1009Asp"
"0000703202"	"00005458"	"99"	"3527"	"0"	"3527"	"0"	"c.3527G>T"	"r.?"	"p.(Gly1176Val)"	"49"	"substitution"	"missense"	"Gly1009Val"
"0000703203"	"00005458"	"99"	"3527"	"0"	"3528"	"0"	"c.3527_3528delinsAA"	"r.?"	"p.(Gly1176Glu)"	"49"	"delins"	"missense"	"Gly1009Glu"
"0000703204"	"00005458"	"99"	"3533"	"0"	"3553"	"0"	"c.3533_3553del"	"r.?"	"p.(Pro1178_Gly1185delinsArg)"	"49"	"deletion"	"delins"	"Pro1011_Gly1018delinsArg"
"0000703205"	"00005458"	"99"	"3535"	"0"	"3535"	"0"	"c.3535G>C"	"r.?"	"p.(Gly1179Arg)"	"49"	"substitution"	"missense"	"Gly1012Arg"
"0000703206"	"00005458"	"79"	"3536"	"0"	"3536"	"0"	"c.3536G>A"	"r.?"	"p.(Gly1179Asp)"	"49"	"substitution"	"missense"	"Gly1012Asp"
"0000703207"	"00005458"	"99"	"3536"	"0"	"3536"	"0"	"c.3536G>T"	"r.?"	"p.(Gly1179Val)"	"49"	"substitution"	"missense"	"Gly1012Val"
"0000703208"	"00005458"	"99"	"3544"	"0"	"3544"	"0"	"c.3544G>A"	"r.?"	"p.(Gly1182Arg)"	"49"	"substitution"	"missense"	"Gly1015Arg"
"0000703209"	"00005458"	"79"	"3544"	"0"	"3544"	"0"	"c.3544G>A"	"r.?"	"p.(Gly1182Arg)"	"49"	"substitution"	"missense"	"Gly1015Arg"
"0000703210"	"00005458"	"99"	"3544"	"0"	"3544"	"0"	"c.3544G>C"	"r.?"	"p.(Gly1182Arg)"	"49"	"substitution"	"missense"	"Gly1015Arg"
"0000703211"	"00005458"	"99"	"3545"	"0"	"3545"	"0"	"c.3545G>A"	"r.?"	"p.(Gly1182Glu)"	"49"	"substitution"	"missense"	"Gly1015Glu"
"0000703212"	"00005458"	"99"	"3545"	"0"	"3545"	"0"	"c.3545G>A"	"r.?"	"p.(Gly1182Glu)"	"49"	"substitution"	"missense"	"Gly1015Glu"
"0000703213"	"00005458"	"99"	"3545"	"0"	"3545"	"0"	"c.3545G>A"	"r.?"	"p.(Gly1182Glu)"	"49"	"substitution"	"missense"	"Gly1015Glu"
"0000703214"	"00005458"	"99"	"3545"	"0"	"3545"	"0"	"c.3545G>A"	"r.?"	"p.(Gly1182Glu)"	"49"	"substitution"	"missense"	"Gly1015Glu"
"0000703215"	"00005458"	"99"	"3545"	"0"	"3545"	"0"	"c.3545G>T"	"r.?"	"p.(Gly1182Val)"	"49"	"substitution"	"missense"	"Gly1015Val"
"0000703216"	"00005458"	"99"	"3554"	"0"	"3554"	"0"	"c.3554G>A"	"r.?"	"p.(Gly1185Asp)"	"49"	"substitution"	"missense"	"Gly1018Asp"
"0000703217"	"00005458"	"99"	"3554"	"0"	"3554"	"0"	"c.3554G>A"	"r.?"	"p.(Gly1185Asp)"	"49"	"substitution"	"missense"	"Gly1018Asp"
"0000703218"	"00005458"	"59"	"3554"	"0"	"3554"	"0"	"c.3554G>A"	"r.?"	"p.(Gly1185Asp)"	"49"	"substitution"	"missense"	"Gly1018Asp"
"0000703219"	"00005458"	"99"	"3554"	"0"	"3554"	"0"	"c.3554G>A"	"r.?"	"p.(Gly1185Asp)"	"49"	"substitution"	"missense"	"Gly1018Asp"
"0000703220"	"00005458"	"99"	"3554"	"0"	"3554"	"0"	"c.3554G>A"	"r.?"	"p.(Gly1185Asp)"	"49"	"substitution"	"missense"	"Gly1018Asp"
"0000703221"	"00005458"	"99"	"3554"	"0"	"3554"	"0"	"c.3554G>T"	"r.(?)"	"p.(Gly1185Val)"	"49"	"substitution"	"missense"	"Gly1018Val"
"0000703222"	"00005458"	"99"	"3562"	"0"	"3562"	"0"	"c.3562G>A"	"r.?"	"p.(Gly1188Arg)"	"49"	"substitution"	"missense"	"Gly1021Arg"
"0000703223"	"00005458"	"99"	"3562"	"0"	"3562"	"0"	"c.3562G>A"	"r.?"	"p.(Gly1188Arg)"	"49"	"substitution"	"missense"	"Gly1021Arg"
"0000703224"	"00005458"	"99"	"3562"	"0"	"3562"	"0"	"c.3562G>A"	"r.?"	"p.(Gly1188Arg)"	"49"	"substitution"	"missense"	"Gly1021Arg"
"0000703225"	"00005458"	"99"	"3563"	"0"	"3563"	"0"	"c.3563G>A"	"r.?"	"p.(Gly1188Glu)"	"49"	"substitution"	"missense"	"Gly1021Glu"
"0000703226"	"00005458"	"99"	"3563"	"0"	"3563"	"0"	"c.3563G>A"	"r.?"	"p.(Gly1188Glu)"	"49"	"substitution"	"missense"	"Gly1021Glu"
"0000703227"	"00005458"	"99"	"3563"	"0"	"3563"	"0"	"c.3563G>A"	"r.?"	"p.(Gly1188Glu)"	"49"	"substitution"	"missense"	"Gly1021Glu"
"0000703228"	"00005458"	"99"	"3563"	"0"	"3563"	"0"	"c.3563G>A"	"r.?"	"p.(Gly1188Glu)"	"49"	"substitution"	"missense"	"Gly1021Glu"
"0000703229"	"00005458"	"99"	"3563"	"0"	"3563"	"0"	"c.3563G>A"	"r.?"	"p.(Gly1188Glu)"	"49"	"substitution"	"missense"	"Gly1021Glu"
"0000703230"	"00005458"	"99"	"3563"	"0"	"3563"	"0"	"c.3563G>A"	"r.?"	"p.(Gly1188Glu)"	"49"	"substitution"	"missense"	"Gly1021Glu"
"0000703231"	"00005458"	"99"	"3563"	"0"	"3563"	"0"	"c.3563G>A"	"r.?"	"p.(Gly1188Glu)"	"49"	"substitution"	"missense"	"Gly1021Glu"
"0000703232"	"00005458"	"99"	"3563"	"0"	"3563"	"0"	"c.3563G>T"	"r.?"	"p.(Gly1188Val)"	"49"	"substitution"	"missense"	"Gly1021Val"
"0000703233"	"00005458"	"55"	"3569"	"0"	"3569"	"0"	"c.3569C>T"	"r.?"	"p.(Pro1190Leu)"	"49"	"substitution"	"missense"	"Pro1023Leu"
"0000703234"	"00005458"	"99"	"3572"	"0"	"3572"	"0"	"c.3572G>A"	"r.?"	"p.(Gly1191Asp)"	"49"	"substitution"	"missense"	"Gly1024Asp"
"0000703235"	"00005458"	"99"	"3575"	"0"	"3576"	"0"	"c.3575_3576insAGGG"	"r.?"	"p.(Pro1193Glyfs*20)"	"49"	"insertion"	"frameshift"	""
"0000703236"	"00005458"	"55"	"3593"	"0"	"3593"	"0"	"c.3593G>A"	"r.?"	"p.(Gly1198Asp)"	"49"	"substitution"	"missense"	"Gly1031Asp"
"0000703237"	"00005458"	"77"	"3607"	"0"	"3607"	"0"	"c.3607G>A"	"r.?"	"p.(Ala1203Thr)"	"49"	"substitution"	"missense"	""
"0000703238"	"00005458"	"11"	"3613"	"0"	"3613"	"0"	"c.3613A>G"	"r.?"	"p.(Ile1205Val)"	"49"	"substitution"	"missense"	""
"0000703239"	"00005458"	"11"	"3654"	"0"	"3654"	"0"	"c.3654G>T"	"r.?"	"p.(=)"	"49"	"substitution"	"silent"	""
"0000703240"	"00005458"	"33"	"3690"	"0"	"3690"	"0"	"c.3690C>G"	"r.?"	"p.(Asn1230Lys)"	"49"	"substitution"	"missense"	""
"0000703241"	"00005458"	"99"	"3710"	"0"	"3710"	"0"	"c.3710C>A"	"r.?"	"p.(Ser1237*)"	"49"	"substitution"	"nonsense"	"Ser1070Ser"
"0000703242"	"00005458"	"99"	"3710"	"0"	"3710"	"0"	"c.3710C>A"	"r.?"	"p.(Ser1237*)"	"49"	"substitution"	"nonsense"	"Ser1070Ser"
"0000703243"	"00005458"	"77"	"3772"	"0"	"3772"	"0"	"c.3772C>T"	"r.?"	"p.(Pro1258Ser)"	"49"	"substitution"	"missense"	""
"0000703244"	"00005458"	"79"	"3775"	"0"	"3775"	"0"	"c.3775G>A"	"r.?"	"p.(Ala1259Thr)"	"49"	"substitution"	"missense"	""
"0000703245"	"00005458"	"99"	"3775"	"0"	"3775"	"0"	"c.3775G>A"	"r.?"	"p.(Ala1259Thr)"	"49"	"substitution"	"missense"	""
"0000703246"	"00005458"	"37"	"3776"	"0"	"3776"	"0"	"c.3776C>T"	"r.?"	"p.(Ala1259Val)"	"49"	"substitution"	"missense"	""
"0000703247"	"00005458"	"11"	"3776"	"0"	"3776"	"0"	"c.3776C>T"	"r.?"	"p.(Ala1259Val)"	"49"	"substitution"	"missense"	""
"0000703248"	"00005458"	"11"	"3776"	"0"	"3776"	"0"	"c.3776C>T"	"r.?"	"p.(Ala1259Val)"	"49"	"substitution"	"missense"	""
"0000703249"	"00005458"	"51"	"3777"	"0"	"3777"	"0"	"c.3777T>C"	"r.?"	"p.(=)"	"49"	"substitution"	"silent"	""
"0000703250"	"00005458"	"55"	"3793"	"0"	"3793"	"0"	"c.3793C>A"	"r.?"	"p.(Leu1265Met)"	"49"	"substitution"	"missense"	"Leu1098Met"
"0000703251"	"00005458"	"77"	"3808"	"0"	"3808"	"0"	"c.3808C>A"	"r.?"	"p.(Pro1270Thr)"	"49"	"substitution"	"missense"	""
"0000703252"	"00005458"	"33"	"3818"	"0"	"3818"	"0"	"c.3818A>G"	"r.?"	"p.(Lys1273Arg)"	"49"	"substitution"	"missense"	""
"0000703253"	"00005458"	"37"	"3818"	"0"	"3818"	"0"	"c.3818A>G"	"r.?"	"p.(Lys1273Arg)"	"49"	"substitution"	"missense"	""
"0000703254"	"00005458"	"11"	"3818"	"0"	"3818"	"0"	"c.3818A>G"	"r.?"	"p.(Lys1273Arg)"	"49"	"substitution"	"missense"	""
"0000703255"	"00005458"	"11"	"3818"	"0"	"3818"	"0"	"c.3818A>G"	"r.(?)"	"p.(Lys1273Arg)"	"49"	"substitution"	"missense"	""
"0000703256"	"00005458"	"99"	"3823"	"1"	"3823"	"1"	"c.3823+1G>C"	"r.?"	"-"	"49i"	"substitution"	"splicing affected?"	""
"0000703257"	"00005458"	"99"	"3847"	"0"	"3847"	"0"	"c.3847C>T"	"r.?"	"p.(Gln1283*)"	"50"	"substitution"	"nonsense"	"Gln1116Ter"
"0000703258"	"00005458"	"99"	"3851"	"0"	"3851"	"0"	"c.3851G>A"	"r.?"	"p.(Gly1284Glu)"	"50"	"substitution"	"missense"	""
"0000703259"	"00005458"	"99"	"3863"	"0"	"3863"	"0"	"c.3863A>T"	"r.?"	"p.(Asp1288Val)"	"50"	"substitution"	"missense"	""
"0000703260"	"00005458"	"77"	"3869"	"0"	"3869"	"0"	"c.3869T>C"	"r.?"	"p.(Ile1290Thr)"	"50"	"substitution"	"missense"	"p.Ile1123Thr"
"0000703261"	"00005458"	"97"	"3938"	"0"	"3938"	"0"	"c.3938A>G"	"r.?"	"p.(Lys1313Arg)"	"50"	"substitution"	"missense"	""
"0000703262"	"00005458"	"37"	"3938"	"0"	"3938"	"0"	"c.3938A>G"	"r.?"	"p.(Lys1313Arg)"	"50"	"substitution"	"missense"	""
"0000703263"	"00005458"	"37"	"3938"	"0"	"3938"	"0"	"c.3938A>G"	"r.?"	"p.(Lys1313Arg)"	"50"	"substitution"	"missense"	""
"0000703264"	"00005458"	"77"	"3938"	"0"	"3938"	"0"	"c.3938A>G"	"r.?"	"p.(Lys1313Arg)"	"50"	"substitution"	"missense"	""
"0000703265"	"00005458"	"35"	"3938"	"0"	"3938"	"0"	"c.3938A>G"	"r.?"	"p.(Lys1313Arg)"	"50"	"substitution"	"missense"	""
"0000703266"	"00005458"	"99"	"3966"	"0"	"3966"	"0"	"c.3966del"	"r.?"	"p.(Lys1323Argfs*64)"	"50"	"deletion"	"frameshift"	""
"0000703267"	"00005458"	"99"	"3989"	"0"	"3989"	"0"	"c.3989del"	"r.?"	"p.(Glu1330Glyfs*57)"	"50"	"deletion"	"frameshift"	""
"0000703268"	"00005458"	"99"	"4011"	"1"	"4011"	"1"	"c.4011+1G>A"	"r.?"	"-"	"50i"	"substitution"	"splicing affected?"	""
"0000703269"	"00005458"	"55"	"4012"	"0"	"4012"	"0"	"c.4012T>A"	"r.?"	"p.(Phe1338Ile)"	"51"	"substitution"	"missense"	""
"0000703270"	"00005458"	"11"	"4059"	"0"	"4059"	"0"	"c.4059G>T"	"r.?"	"p.(Gln1353His)"	"51"	"substitution"	"missense"	""
"0000703271"	"00005458"	"99"	"4096"	"0"	"4096"	"0"	"c.4096C>T"	"r.?"	"p.(Gln1366*)"	"51"	"substitution"	"nonsense"	"Gln1099Ter"
"0000703272"	"00005458"	"77"	"4105"	"0"	"4105"	"0"	"c.4105A>C"	"r.?"	"p.(Thr1369Pro)"	"51"	"substitution"	"missense"	"Thr1202Pro"
"0000703273"	"00005458"	"77"	"4116"	"0"	"4116"	"0"	"c.4116C>G"	"r.?"	"p.(Cys1372Trp)"	"51"	"substitution"	"missense"	""
"0000703274"	"00005458"	"99"	"4134"	"0"	"4134"	"0"	"c.4134C>A"	"r.?"	"p.(Tyr1378*)"	"51"	"substitution"	"nonsense"	"Tyr1211Ter"
"0000703275"	"00005458"	"99"	"4254"	"0"	"4254"	"0"	"c.4254G>A"	"r.?"	"-"	"51"	"substitution"	"splicing affected?"	""
"0000703276"	"00005458"	"33"	"4276"	"0"	"4276"	"0"	"c.4276A>G"	"r.?"	"p.(Lys1426Glu)"	"52"	"substitution"	"missense"	""
"0000703277"	"00005458"	"77"	"4285"	"0"	"4311"	"0"	"c.4285_4311delinsGAACACGCA"	"r.?"	"p.(Phe1429_Val1437delinsGluHisAla)"	"52"	"delins"	"delins"	"Phe1262_Val1270delinsGluHisAla"
"0000703278"	"00005458"	"99"	"4286"	"0"	"4287"	"0"	"c.4286_4287del"	"r.?"	"p.(Phe1429*)"	"52"	"deletion"	"frameshift"	"Phe1262Ter"
"0000703279"	"00005458"	"99"	"4294"	"0"	"4294"	"0"	"c.4294C>T"	"r.?"	"p.(Arg1432*)"	"52"	"substitution"	"nonsense"	"Arg1265Ter"
"0000703280"	"00005458"	"99"	"4295"	"0"	"4295"	"0"	"c.4295G>T"	"r.?"	"p.(Arg1432Leu)"	"52"	"substitution"	"missense"	""
"0000703281"	"00005458"	"53"	"4304"	"0"	"4304"	"0"	"c.4304A>G"	"r.?"	"p.(Lys1435Arg)"	"52"	"substitution"	"missense"	""
"0000703282"	"00005458"	"59"	"4318"	"0"	"4318"	"0"	"c.4318C>T"	"r.?"	"p.(Pro1440Ser)"	"52"	"substitution"	"missense"	""
"0000703283"	"00005458"	"99"	"4319"	"0"	"4319"	"0"	"c.4319C>T"	"r.?"	"p.(Pro1440Leu)"	"52"	"substitution"	"missense"	""
"0000703284"	"00005458"	"99"	"4319"	"0"	"4319"	"0"	"c.4319C>T"	"r.?"	"p.(Pro1440Leu)"	"52"	"substitution"	"missense"	""
"0000703285"	"00005458"	"99"	"4399"	"0"	"4399"	"0"	"c.4399T>C"	"r.?"	"p.*1467Glnext*45"	"52"	"substitution"	"no-stop"	""
"0000703286"	"00005458"	"97"	"4400"	"0"	"4400"	"0"	"c.4400A>T"	"r.?"	"p.(*1467Leuext*45)"	"52"	"substitution"	"no-stop"	""
"0000718341"	"00005458"	"30"	"528"	"424"	"528"	"424"	"c.528+424T>C"	"r.(=)"	"p.(=)"	""	""	""	""
"0000718342"	"00005458"	"50"	"625"	"0"	"625"	"0"	"c.625G>A"	"r.(?)"	"p.(Ala209Thr)"	""	""	""	""
"0000718343"	"00005458"	"90"	"1662"	"1"	"1662"	"1"	"c.1662+1G>C"	"r.spl?"	"p.?"	""	""	""	""
"0000718344"	"00005458"	"50"	"2819"	"0"	"2819"	"0"	"c.2819C>A"	"r.(?)"	"p.(Pro940Gln)"	""	""	""	""
"0000791019"	"00005458"	"90"	"1744"	"0"	"1744"	"0"	"c.1744G>A"	"r.(?)"	"p.(Gly582Ser)"	""	""	"missense"	""
"0000791020"	"00005458"	"70"	"2338"	"-2"	"2338"	"-2"	"c.2338-2A>G"	"r.spl?"	"p.?"	""	""	"splicing affected"	""
"0000791120"	"00005458"	"97"	"3256"	"-43"	"3256"	"-43"	"c.3256-43T>G"	"r.spl?"	"p.(?)"	""	"substitution"	"splicing affected?"	""
"0000800226"	"00005458"	"50"	"508"	"0"	"508"	"0"	"c.508G>C"	"r.(?)"	"p.(Ala170Pro)"	""	""	""	""
"0000800227"	"00005458"	"70"	"654"	"0"	"654"	"0"	"c.654dup"	"r.(?)"	"p.(Gly219Trpfs*17)"	""	""	""	""
"0000800228"	"00005458"	"90"	"1133"	"0"	"1133"	"0"	"c.1133G>A"	"r.(?)"	"p.(Gly378Asp)"	""	""	""	""
"0000800229"	"00005458"	"30"	"1924"	"-13"	"1924"	"-13"	"c.1924-13T>C"	"r.(=)"	"p.(=)"	""	""	""	""
"0000800230"	"00005458"	"90"	"2815"	"0"	"2815"	"0"	"c.2815G>A"	"r.(?)"	"p.(Gly939Ser)"	""	""	""	""
"0000800231"	"00005458"	"90"	"3562"	"0"	"3562"	"0"	"c.3562G>A"	"r.(?)"	"p.(Gly1188Arg)"	""	""	""	""
"0000800232"	"00005458"	"30"	"3576"	"0"	"3576"	"0"	"c.3576C>T"	"r.(?)"	"p.(Ala1192=)"	""	""	""	""
"0000818583"	"00005458"	"99"	"976"	"0"	"976"	"0"	"c.976C>T"	"r.(?)"	"p.(Arg326*)"	"15"	"substitution"	"missense"	"Arg159Ter"
"0000831666"	"00005458"	"70"	"3203"	"0"	"3203"	"0"	"c.3203G>A"	"r.(?)"	"p.(Gly1068Asp)"	""	"substitution"	"missense"	""
"0000831734"	"00005458"	"50"	"370"	"0"	"370"	"0"	"c.370G>C"	"r.(?)"	"p.(Gly124Arg)"	""	""	""	""
"0000839560"	"00005458"	"99"	"951"	"2"	"951"	"2"	"c.951+2T>G"	"r.898_951del"	"p.Pro301_Gly318del"	"13i"	"substitution"	"splicing affected, exon skipped"	""
"0000839936"	"00005458"	"30"	"119"	"0"	"119"	"0"	"c.119C>A"	"r.(?)"	"p.(Ala40Glu)"	""	""	""	""
"0000839937"	"00005458"	"10"	"1293"	"15"	"1293"	"15"	"c.1293+15T>A"	"r.(?)"	"p.(=)"	""	""	""	""
"0000839938"	"00005458"	"30"	"1815"	"5"	"1815"	"5"	"c.1815+5G>A"	"r.(?)"	"p.(=)"	""	""	""	""
"0000839939"	"00005458"	"10"	"1815"	"18"	"1815"	"18"	"c.1815+18A>G"	"r.(?)"	"p.(=)"	""	""	""	""
"0000839940"	"00005458"	"30"	"1977"	"9"	"1977"	"9"	"c.1977+9C>T"	"r.(?)"	"p.(=)"	""	""	""	""
"0000839941"	"00005458"	"10"	"1978"	"-11"	"1978"	"-11"	"c.1978-11C>T"	"r.(?)"	"p.(=)"	""	""	""	""
"0000839942"	"00005458"	"30"	"2035"	"0"	"2035"	"0"	"c.2035G>A"	"r.(?)"	"p.(Ala679Thr)"	""	""	""	""
"0000839943"	"00005458"	"10"	"2092"	"0"	"2092"	"0"	"c.2092G>A"	"r.(?)"	"p.(Ala698Thr)"	""	""	""	""
"0000839944"	"00005458"	"10"	"2244"	"0"	"2244"	"0"	"c.2244T>C"	"r.(?)"	"p.(Gly748=)"	""	""	""	""
"0000839945"	"00005458"	"30"	"3061"	"0"	"3061"	"0"	"c.3061C>G"	"r.(?)"	"p.(Leu1021Val)"	""	""	""	""
"0000839946"	"00005458"	"30"	"3133"	"0"	"3133"	"0"	"c.3133G>A"	"r.(?)"	"p.(Ala1045Thr)"	""	""	""	""
"0000839947"	"00005458"	"10"	"3613"	"0"	"3613"	"0"	"c.3613A>G"	"r.(?)"	"p.(Ile1205Val)"	""	""	""	""
"0000839948"	"00005458"	"10"	"4059"	"0"	"4059"	"0"	"c.4059T>G"	"r.(?)"	"p.(His1353Gln)"	""	""	""	""
"0000842216"	"00005458"	"99"	"2644"	"0"	"2644"	"0"	"c.2644G>T"	"r.(?)"	"p.(Gly882Cys)"	""	"substitution"	"missense"	"Gly715Cys"
"0000844403"	"00005458"	"99"	"951"	"2"	"951"	"2"	"c.951+2T>G"	"r.898_951del"	"p.Pro301_Gly318del"	"13i"	"substitution"	"splicing affected"	""
"0000849617"	"00005458"	"30"	"123"	"0"	"123"	"0"	"c.123T>C"	"r.(?)"	"p.(Asp41=)"	""	""	""	""
"0000849618"	"00005458"	"30"	"333"	"15"	"333"	"15"	"c.333+15T>C"	"r.(=)"	"p.(=)"	""	""	""	""
"0000849619"	"00005458"	"30"	"505"	"0"	"505"	"0"	"c.505C>T"	"r.(?)"	"p.(Leu169Phe)"	""	""	""	""
"0000849620"	"00005458"	"30"	"1531"	"0"	"1531"	"0"	"c.1531G>C"	"r.(?)"	"p.(Ala511Pro)"	""	""	""	""
"0000849621"	"00005458"	"30"	"1617"	"0"	"1617"	"0"	"c.1617C>T"	"r.(?)"	"p.(Pro539=)"	""	""	""	""
"0000849622"	"00005458"	"90"	"2087"	"0"	"2087"	"0"	"c.2087G>A"	"r.(?)"	"p.(Gly696Asp)"	""	""	""	""
"0000849623"	"00005458"	"30"	"2230"	"-10"	"2230"	"-10"	"c.2230-10T>C"	"r.(=)"	"p.(=)"	""	""	""	""
"0000849624"	"00005458"	"30"	"2445"	"19"	"2445"	"19"	"c.2445+19A>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000858217"	"00005458"	"30"	"3759"	"0"	"3759"	"0"	"c.3759T>G"	"r.(?)"	"p.(Gly1253=)"	""	""	""	""
"0000868314"	"00005458"	"79"	"3554"	"0"	"3554"	"0"	"c.3554G>T"	"r.(?)"	"p.(Gly1185Val)"	""	"substitution"	"missense"	"Gly1018Val"
"0000869729"	"00005458"	"70"	"2110"	"0"	"2110"	"0"	"c.2110G>A"	"r.(?)"	"p.(Glu704Lys)"	"30"	"substitution"	"missense"	"Glu704Lys"
"0000869805"	"00005458"	"70"	"2791"	"0"	"2791"	"0"	"c.2791G>A"	"r.(?)"	"p.(Glu931Lys)"	"39"	"substitution"	"missense"	"Glu764Lys"
"0000870084"	"00005458"	"70"	"1387"	"0"	"1387"	"0"	"c.1387G>A"	"r.(?)"	"p.(Glu463Lys)"	"20"	"substitution"	"missense"	"Glu296Lys"
"0000870085"	"00005458"	"79"	"2791"	"0"	"2791"	"0"	"c.2791G>A"	"r.(?)"	"p.(Glu931Lys)"	"39"	"substitution"	"missense"	"Glu764Lys"
"0000870086"	"00005458"	"79"	"1342"	"0"	"1342"	"0"	"c.1342G>A"	"r.(?)"	"p.(Glu448Lys)"	"19"	"substitution"	"missense"	"Glu281Lys"
"0000870087"	"00005458"	"79"	"2791"	"0"	"2791"	"0"	"c.2791G>A"	"r.(?)"	"p.(Glu931Lys)"	"39"	"substitution"	"missense"	"Glu764Lys"
"0000870088"	"00005458"	"70"	"1351"	"0"	"1351"	"0"	"c.1351G>A"	"r.(?)"	"p.(Glu451Lys)"	"20"	"substitution"	"missense"	"Glu284Lys"
"0000870708"	"00005458"	"77"	"2199"	"0"	"2200"	"0"	"c.2199_2200delinsAT"	"r.(?)"	"p.(Leu734Phe)"	""	"substitution"	"missense"	"Leu567Phe"
"0000870709"	"00005458"	"70"	"2221"	"0"	"2221"	"0"	"c.2221G>A"	"r.(?)"	"p.(Gly741Ser)"	""	"substitution"	"missense"	"Gly574Ser"
"0000870710"	"00005458"	"99"	"2644"	"0"	"2644"	"0"	"c.2644G>T"	"r.(?)"	"p.(Gly882Cys)"	"38"	"substitution"	"missense"	"Gly715Cys"
"0000871653"	"00005458"	"79"	"2753"	"0"	"2753"	"0"	"c.2753G>A"	"r.(?)"	"p.(Gly918Glu)"	"39"	"substitution"	"missense"	"Gly751Glu"
"0000871654"	"00005458"	"79"	"2753"	"0"	"2753"	"0"	"c.2753G>A"	"r.(?)"	"p.(Gly918Glu)"	"39"	"substitution"	"missense"	"Gly751Glu"
"0000871655"	"00005458"	"79"	"2753"	"0"	"2753"	"0"	"c.2753G>A"	"r.(?)"	"p.(Gly918Glu)"	"39"	"substitution"	"missense"	"Gly751Glu"
"0000871656"	"00005458"	"79"	"2753"	"0"	"2753"	"0"	"c.2753G>A"	"r.(?)"	"p.(Gly918Glu)"	"39"	"substitution"	"missense"	"Gly751Glu"
"0000871657"	"00005458"	"79"	"2753"	"0"	"2753"	"0"	"c.2753G>A"	"r.(?)"	"p.(Gly918Glu)"	"39"	"substitution"	"missense"	"Gly751Glu"
"0000872194"	"00005458"	"70"	"8388607"	"0"	"8388607"	"0"	"c.*189397213_*190051156del"	"r.(=)"	"p.(=)"	""	""	"deletion"	""
"0000873891"	"00005458"	"99"	"1052"	"0"	"1052"	"0"	"c.1052G>T"	"r.(?)"	"p.(Gly351Val)"	""	"substitution"	"missense"	"Gly184Val"
"0000873892"	"00005458"	"97"	"3478"	"0"	"3478"	"0"	"c.3478A>G"	"r.(?)"	"p.(Ile1160Val)"	""	"substitution"	"missense"	"Ile993Val"
"0000876614"	"00005458"	"90"	"1961"	"0"	"1961"	"0"	"c.1961G>A"	"r.(?)"	"p.(Gly654Glu)"	""	"substitution"	"missense"	"Gly487Glu"
"0000876615"	"00005458"	"70"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.spl?"	"p.?"	""	"substitution"	"splicing affected"	""
"0000878063"	"00005458"	"50"	"3539"	"0"	"3539"	"0"	"c.3539A>G"	"r.(?)"	"p.(His1180Arg)"	"48"	""	""	""
"0000878081"	"00005458"	"70"	"2791"	"0"	"2791"	"0"	"c.2791G>A"	"r.(?)"	"p.(Glu931Lys)"	"39"	""	""	""
"0000878100"	"00005458"	"50"	"2992"	"0"	"2992"	"0"	"c.2992C>G"	"r.(?)"	"p.(Gln998Glu)"	"41"	""	""	""
"0000878147"	"00005458"	"50"	"1045"	"0"	"1045"	"0"	"c.1045G>A"	"r.(?)"	"p.(Ala349Thr)"	"15"	""	""	""
"0000878148"	"00005458"	"50"	"2974"	"0"	"2974"	"0"	"c.2974C>A"	"r.(?)"	"p.(Arg992Ser)"	"41"	""	""	""
"0000878164"	"00005458"	"50"	"2445"	"5"	"2445"	"5"	"c.2445+5G>C"	"r.spl?"	"p.?"	""	""	""	""
"0000878166"	"00005458"	"70"	"2726"	"0"	"2726"	"0"	"c.2726G>A"	"r.(?)"	"p.(Gly909Asp)"	"39"	""	""	""
"0000878191"	"00005458"	"70"	"3572"	"0"	"3572"	"0"	"c.3572G>A"	"r.(?)"	"p.(Gly1191Asp)"	"48"	""	""	""
"0000878196"	"00005458"	"70"	"557"	"0"	"557"	"0"	"c.557G>A"	"r.(?)"	"p.(Gly186Asp)"	"6"	""	""	""
"0000878201"	"00005458"	"50"	"3388"	"0"	"3388"	"0"	"c.3388A>G"	"r.(?)"	"p.(Ile1130Val)"	"46"	""	""	""
"0000880866"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.(?)"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000880867"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.(?)"	"p.(Gly183Ser)"	"7"	"substitution"	"missense"	"Gly16Ser"
"0000880868"	"00005458"	"99"	"556"	"0"	"556"	"0"	"c.556G>A"	"r.(?)"	"p.(Gly186Ser)"	"7"	"substitution"	"missense"	"Gly19Ser"
"0000880869"	"00005458"	"79"	"565"	"0"	"565"	"0"	"c.565G>C"	"r.(?)"	"p.(Gly189Arg)"	"7"	"substitution"	"missense"	"Gly22Arg"
"0000884634"	"00005458"	"30"	"447"	"13"	"447"	"13"	"c.447+13C>T"	"r.(=)"	"p.(=)"	""	""	""	""
"0000884635"	"00005458"	"50"	"1345"	"0"	"1345"	"0"	"c.1345C>T"	"r.(?)"	"p.(Arg449Cys)"	""	""	""	""
"0000884636"	"00005458"	"90"	"1744"	"0"	"1744"	"0"	"c.1744G>A"	"r.(?)"	"p.(Gly582Ser)"	""	""	""	""
"0000884637"	"00005458"	"30"	"1762"	"-17"	"1762"	"-17"	"c.1762-17G>A"	"r.(=)"	"p.(=)"	""	""	""	""
"0000884638"	"00005458"	"30"	"1995"	"0"	"1995"	"0"	"c.1995C>T"	"r.(?)"	"p.(Ala665=)"	""	""	""	""
"0000884639"	"00005458"	"50"	"2011"	"0"	"2011"	"0"	"c.2011C>A"	"r.(?)"	"p.(Pro671Thr)"	""	""	""	""
"0000884640"	"00005458"	"90"	"2087"	"0"	"2087"	"0"	"c.2087G>T"	"r.(?)"	"p.(Gly696Val)"	""	""	""	""
"0000884641"	"00005458"	"90"	"2985"	"0"	"2985"	"0"	"c.2985del"	"r.(?)"	"p.(Gly996Aspfs*240)"	""	""	""	""
"0000902666"	"00005458"	"79"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.(?)"	"p.(Gly195Arg)"	"8"	"substitution"	"missense"	"Gly28Arg"
"0000902667"	"00005458"	"70"	"598"	"0"	"598"	"0"	"c.598C>T"	"r.(?)"	"p.(Gln200*)"	"8"	"substitution"	"nonsense"	"Gln33*"
"0000902668"	"00005458"	"79"	"659"	"0"	"664"	"0"	"c.659_664del"	"r.(?)"	"p.(Ala220_Ile221del)"	"9"	"deletion"	"missense"	"Ala53_Ile54del"
"0000902669"	"00005458"	"99"	"665"	"0"	"665"	"0"	"c.665G>A"	"r.(?)"	"p.(Gly222Asp)"	"9"	"substitution"	"missense"	"Gly55Asp"
"0000902670"	"00005458"	"99"	"724"	"0"	"724"	"0"	"c.724C>T"	"r.(?)"	"p.(Arg242*)"	"10"	"substitution"	"nonsense"	"Arg75*"
"0000902671"	"00005458"	"79"	"754"	"0"	"754"	"0"	"c.754G>A"	"r.(?)"	"p.(Gly252Ser)"	"11"	"substitution"	"missense"	"Gly85Ser"
"0000902672"	"00005458"	"99"	"755"	"0"	"755"	"0"	"c.755G>A"	"r.(?)"	"p.(Gly252Asp)"	"11"	"substitution"	"missense"	"Gly85Asp"
"0000902673"	"00005458"	"70"	"763"	"0"	"763"	"0"	"c.763G>T"	"r.(?)"	"p.(Gly255Trp)"	"11"	"substitution"	"missense"	"Gly88Trp"
"0000902674"	"00005458"	"90"	"848"	"0"	"848"	"0"	"c.848T>A"	"r.(?)"	"p.(Leu283*)"	"12"	"substitution"	"nonsense"	"Leu116*"
"0000902675"	"00005458"	"77"	"897"	"2"	"897"	"2"	"c.897+2T>G"	"r.spl?"	"p.?"	"13"	"substitution"	"splicing affected"	""
"0000902676"	"00005458"	"77"	"897"	"2"	"897"	"2"	"c.897+2T>A"	"r.spl?"	"p.?"	"13"	"substitution"	"splicing affected"	""
"0000902677"	"00005458"	"77"	"951"	"5"	"951"	"5"	"c.951+5G>C"	"r.spl?"	"p.?"	"14"	"substitution"	"splicing affected"	""
"0000902678"	"00005458"	"77"	"1194"	"1"	"1194"	"1"	"c.1194+1G>A"	"r.spl?"	"p.?"	"18"	"substitution"	"splicing affected"	""
"0000902679"	"00005458"	"79"	"1330"	"0"	"1330"	"0"	"c.1330G>A"	"r.(?)"	"p.(Gly444Arg)"	"20"	"substitution"	"missense"	"Gly277Arg"
"0000902680"	"00005458"	"77"	"1346"	"0"	"1346"	"0"	"c.1346G>T"	"r.(?)"	"p.(Arg449Leu)"	"20"	"substitution"	"missense"	"Arg282Leu"
"0000902681"	"00005458"	"79"	"1546"	"0"	"1546"	"0"	"c.1546G>T"	"r.(?)"	"p.(Gly516Trp)"	"23"	"substitution"	"missense"	"Gly349Trp"
"0000902682"	"00005458"	"70"	"1556"	"0"	"1557"	"0"	"c.1556_1557delinsTT"	"r.(?)"	"p.(Gly519Val)"	"23"	"delins"	"missense"	"Gly352Val"
"0000902683"	"00005458"	"97"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.spl?"	"p.?"	"24"	"substitution"	"splicing affected"	""
"0000902684"	"00005458"	"99"	"1862"	"0"	"1862"	"0"	"c.1862G>A"	"r.(?)"	"p.(Gly621Glu)"	"27"	"substitution"	"missense"	"Gly454Glu"
"0000902688"	"00005458"	"77"	"1977"	"5"	"1977"	"5"	"c.1977+5G>C"	"r.spl?"	"p.?"	"29"	"substitution"	"splicing affected"	""
"0000902689"	"00005458"	"79"	"2134"	"0"	"2160"	"0"	"c.2134_2160del"	"r.(?)"	"p.(Pro712_Gly720del)"	"32"	"deletion"	"deletion"	"Pro545_Gly553del"
"0000902690"	"00005458"	"77"	"2283"	"5"	"2283"	"5"	"c.2283+5G>T"	"r.spl?"	"p.?"	"32"	"substitution"	"splicing affected"	""
"0000902691"	"00005458"	"99"	"2356"	"0"	"2356"	"0"	"c.2356G>A"	"r.(?)"	"p.(Gly786Arg)"	"35"	"substitution"	"missense"	"Gly619Arg"
"0000902692"	"00005458"	"79"	"2357"	"0"	"2357"	"0"	"c.2357G>A"	"r.(?)"	"p.(Gly786Glu)"	"35"	"substitution"	"missense"	"Gly619Glu"
"0000902931"	"00005458"	"99"	"2518"	"0"	"2518"	"0"	"c.2518G>A"	"r.(?)"	"p.(Gly840Arg)"	"37"	"substitution"	"missense"	"Gly673Arg"
"0000902932"	"00005458"	"99"	"2815"	"0"	"2815"	"0"	"c.2815G>A"	"r.(?)"	"p.(Gly939Ser)"	"40"	"substitution"	"missense"	"Gly772Ser"
"0000902933"	"00005458"	"79"	"2869"	"0"	"2869"	"0"	"c.2869G>A"	"r.(?)"	"p.(Gly957Ser)"	"41"	"substitution"	"missense"	"Gly790Ser"
"0000902934"	"00005458"	"99"	"2870"	"0"	"2870"	"0"	"c.2870G>T"	"r.(?)"	"p.(Gly957Val)"	"41"	"substitution"	"missense"	"Gly790Val"
"0000902935"	"00005458"	"79"	"3256"	"0"	"3256"	"0"	"c.3256G>C"	"r.(?)"	"p.(Gly1086Arg)"	"46"	"substitution"	"missense"	"Gly919Arg"
"0000902936"	"00005458"	"99"	"3338"	"0"	"3338"	"0"	"c.3338G>A"	"r.(?)"	"p.(Gly1113Asp)"	"46"	"substitution"	"missense"	"Gly946Asp"
"0000902937"	"00005458"	"77"	"3525"	"1"	"3525"	"1"	"c.3525+1G>A"	"r.spl?"	"p.?"	"48"	"substitution"	"splicing affected"	""
"0000903159"	"00005458"	"50"	"1870"	"-109"	"1923"	"9"	"c.1870-109_1923+9del"	"r.(?)"	"p.(Pro625_Gly642del)"	"26i_27i"	"deletion, large"	"deletion, exon"	""
"0000903238"	"00005458"	"70"	"1149"	"6"	"1149"	"6"	"c.1149+6T>C"	"r.1051_1149del"	"p.Glu352_Gly384del"	"20i"	""	"splicing affected, exon skipped"	""
"0000911484"	"00005458"	"30"	"898"	"-4"	"898"	"-4"	"c.898-4G>A"	"r.spl?"	"p.?"	""	""	""	""
"0000911485"	"00005458"	"90"	"2510"	"0"	"2510"	"0"	"c.2510G>T"	"r.(?)"	"p.(Gly837Val)"	""	""	""	""
"0000911486"	"00005458"	"90"	"2671"	"0"	"2671"	"0"	"c.2671G>A"	"r.(?)"	"p.(Gly891Arg)"	""	""	""	""
"0000911487"	"00005458"	"30"	"2688"	"0"	"2688"	"0"	"c.2688C>T"	"r.(?)"	"p.(Ser896=)"	""	""	""	""
"0000911488"	"00005458"	"50"	"2723"	"0"	"2723"	"0"	"c.2723C>T"	"r.(?)"	"p.(Ala908Val)"	""	""	""	""
"0000911489"	"00005458"	"30"	"3039"	"16"	"3039"	"16"	"c.3039+16T>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000911490"	"00005458"	"30"	"3364"	"-3"	"3364"	"-3"	"c.3364-3C>T"	"r.spl?"	"p.?"	""	""	""	""
"0000916941"	"00005458"	"77"	"4400"	"0"	"4400"	"0"	"c.4400A>T"	"r.(?)"	"p.(*1467Leuext*45)"	""	"substitution"	"no-stop"	""
"0000916943"	"00005458"	"90"	"1714"	"0"	"1714"	"0"	"c.1714C>T"	"r.(?)"	"p.(Arg572*)"	""	"substitution"	"nonsense"	""
"0000916944"	"00005458"	"99"	"2797"	"0"	"2797"	"0"	"c.2797G>T"	"r.(?)"	"p.(Gly933*)"	""	"substitution"	"nonsense"	"Gly766Ter"
"0000916946"	"00005458"	"90"	"3500"	"0"	"3500"	"0"	"c.3500G>A"	"r.(?)"	"p.(Gly1167Asp)"	""	"substitution"	"missense"	""
"0000916985"	"00005458"	"99"	"610"	"0"	"610"	"0"	"c.610G>C"	"r.(?)"	"p.(Gly204Arg)"	""	"substitution"	"missense"	""
"0000916986"	"00005458"	"90"	"4138"	"0"	"4138"	"0"	"c.4138del"	"r.(?)"	"p.(Asp1380Ilefs*7)"	""	"deletion"	"frameshift"	""
"0000916987"	"00005458"	"90"	"3004"	"0"	"3004"	"0"	"c.3004G>A"	"r.(?)"	"p.(Gly1002Ser)"	""	"substitution"	"missense"	""
"0000916988"	"00005458"	"90"	"2032"	"0"	"2032"	"0"	"c.2032G>C"	"r.(?)"	"p.(Gly678Arg)"	""	"substitution"	"missense"	""
"0000916989"	"00005458"	"90"	"1996"	"0"	"1996"	"0"	"c.1996G>A"	"r.(?)"	"p.(Gly666Ser)"	""	"substitution"	"missense"	""
"0000916991"	"00005458"	"90"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.spl"	"p.?"	""	"substitution"	"splicing affected"	""
"0000916993"	"00005458"	"90"	"2123"	"0"	"2123"	"0"	"c.2123G>C"	"r.(?)"	"p.(Gly708Ala)"	""	"substitution"	"missense"	""
"0000916994"	"00005458"	"90"	"3554"	"0"	"3554"	"0"	"c.3554G>T"	"r.(?)"	"p.(Gly1185Val)"	""	"substitution"	"missense"	""
"0000916995"	"00005458"	"90"	"2409"	"0"	"2422"	"0"	"c.2409_2422del"	"r.(?)"	"p.(Gly804Cysfs*12)"	""	"deletion"	"frameshift"	""
"0000916996"	"00005458"	"99"	"593"	"0"	"593"	"0"	"c.593G>T"	"r.(?)"	"p.(Gly198Val)"	""	"substitution"	"missense"	""
"0000916997"	"00005458"	"99"	"1555"	"0"	"1555"	"0"	"c.1555G>A"	"r.(?)"	"p.(Gly519Arg)"	""	"substitution"	"missense"	"Gly352Arg"
"0000916998"	"00005458"	"90"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.spl"	"p.?"	""	"substitution"	"splicing affected"	""
"0000916999"	"00005458"	"90"	"2798"	"0"	"2798"	"0"	"c.2798G>A"	"r.(?)"	"p.(Gly933Glu)"	""	"substitution"	"missense"	""
"0000917000"	"00005458"	"99"	"970"	"0"	"970"	"0"	"c.970G>A"	"r.(?)"	"p.(Gly324Ser)"	""	"substitution"	"missense"	"Gly157Ser"
"0000917001"	"00005458"	"90"	"2951"	"0"	"2951"	"0"	"c.2951G>T"	"r.(?)"	"p.(Gly984Val)"	""	"substitution"	"missense"	""
"0000917002"	"00005458"	"90"	"2923"	"0"	"2923"	"0"	"c.2923G>A"	"r.(?)"	"p.(Gly975Ser)"	""	"substitution"	"missense"	""
"0000917003"	"00005458"	"90"	"3525"	"1"	"3525"	"1"	"c.3525+1G>A"	"r.spl"	"p.?"	""	"substitution"	"splicing affected"	""
"0000917004"	"00005458"	"90"	"2329"	"0"	"2329"	"0"	"c.2329G>C"	"r.(?)"	"p.(Gly777Arg)"	""	"substitution"	"missense"	""
"0000917005"	"00005458"	"99"	"1700"	"0"	"1700"	"0"	"c.1700G>A"	"r.(?)"	"p.(Gly567Glu)"	""	"substitution"	"missense"	"Gly400Glu"
"0000917006"	"00005458"	"90"	"1662"	"1"	"1662"	"1"	"c.1662+1G>C"	"r.spl"	"p.?"	""	"substitution"	"splicing affected"	""
"0000917007"	"00005458"	"90"	"3104"	"0"	"3104"	"0"	"c.3104G>T"	"r.(?)"	"p.(Gly1035Val)"	""	"substitution"	"missense"	""
"0000917008"	"00005458"	"90"	"2445"	"3"	"2445"	"6"	"c.2445+3_2445+6del"	"r.spl"	"p.?"	""	"deletion"	"splicing affected"	""
"0000917009"	"00005458"	"90"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.spl"	"p.?"	""	"substitution"	"splicing affected"	""
"0000917010"	"00005458"	"99"	"970"	"0"	"970"	"0"	"c.970G>A"	"r.(?)"	"p.(Gly324Ser)"	""	"substitution"	"missense"	"Gly157Ser"
"0000917011"	"00005458"	"99"	"382"	"0"	"382"	"0"	"c.382C>T"	"r.(?)"	"p.(Gln128*)"	""	"substitution"	"nonsense"	""
"0000917013"	"00005458"	"99"	"755"	"0"	"755"	"0"	"c.755G>T"	"r.(?)"	"p.(Gly252Val)"	""	"substitution"	"missense"	"Gly85Val"
"0000917014"	"00005458"	"90"	"2105"	"0"	"2105"	"0"	"c.2105G>T"	"r.(?)"	"p.(Gly702Val)"	""	"substitution"	"missense"	""
"0000917015"	"00005458"	"90"	"3525"	"2"	"3525"	"2"	"c.3525+2T>C"	"r.spl"	"p.?"	""	"substitution"	"splicing affected"	""
"0000917016"	"00005458"	"90"	"1988"	"0"	"1988"	"0"	"c.1988G>A"	"r.(?)"	"p.(Gly663Asp)"	""	"substitution"	"missense"	""
"0000917017"	"00005458"	"90"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.spl"	"p.?"	""	"substitution"	"splicing affected"	""
"0000917018"	"00005458"	"90"	"2401"	"0"	"2401"	"0"	"c.2401G>C"	"r.(?)"	"p.(Gly801Arg)"	""	"substitution"	"missense"	""
"0000917019"	"00005458"	"90"	"2554"	"0"	"2554"	"0"	"c.2554G>T"	"r.(?)"	"p.(Gly852Cys)"	""	"substitution"	"missense"	""
"0000917020"	"00005458"	"99"	"996"	"5"	"996"	"5"	"c.996+5G>A"	"r.spl?"	"p.?"	""	"substitution"	"splicing affected"	""
"0000917021"	"00005458"	"99"	"996"	"5"	"996"	"5"	"c.996+5G>A"	"r.spl"	"p.?"	""	"substitution"	"splicing affected"	""
"0000917022"	"00005458"	"99"	"1347"	"1"	"1347"	"1"	"c.1347+1G>A"	"r.spl?"	"p.?"	""	"substitution"	"splicing affected"	""
"0000917023"	"00005458"	"99"	"582"	"1"	"582"	"1"	"c.582+1G>A"	"r.spl"	"p.?"	""	"substitution"	"splicing affected"	""
"0000917491"	"00005458"	"70"	"190"	"0"	"190"	"0"	"c.190G>T"	"r.(?)"	"p.(Asp64Tyr)"	""	"substitution"	"missense"	""
"0000918640"	"00005458"	"90"	"1763"	"0"	"1763"	"0"	"c.1763G>A"	"r.(?)"	"p.(Gly588Asp)"	""	""	""	""
"0000918641"	"00005458"	"90"	"584"	"0"	"584"	"0"	"c.584G>T"	"r.(?)"	"p.(Gly195Val)"	""	""	""	""
"0000918642"	"00005458"	"90"	"2022"	"2"	"2022"	"2"	"c.2022+2T>C"	"r.spl"	"p.?"	""	""	""	""
"0000918643"	"00005458"	"90"	"3067"	"0"	"3067"	"0"	"c.3067G>C"	"r.(?)"	"p.(Gly1023Arg)"	""	""	""	""
"0000918644"	"00005458"	"90"	"2230"	"-3"	"2255"	"0"	"c.2230-3_2255del"	"r.spl"	"p.?"	""	""	""	""
"0000918645"	"00005458"	"90"	"1761"	"5"	"1761"	"5"	"c.1761+5G>A"	"r.spl"	"p.?"	""	""	""	""
"0000918646"	"00005458"	"90"	"899"	"0"	"899"	"0"	"c.899G>A"	"r.(?)"	"p.(Gly300Asp)"	""	""	""	""
"0000918647"	"00005458"	"90"	"3149"	"0"	"3149"	"0"	"c.3149G>A"	"r.(?)"	"p.(Gly1050Asp)"	""	""	""	""
"0000918648"	"00005458"	"90"	"3039"	"3"	"3039"	"3"	"c.3039+3G>C"	"r.spl"	"p.?"	""	""	""	""
"0000918649"	"00005458"	"90"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.(?)"	"p.(Gly183Ser)"	""	""	""	""
"0000918650"	"00005458"	"90"	"1241"	"0"	"1241"	"0"	"c.1241G>A"	"r.(?)"	"p.(Gly414Asp)"	""	""	""	""
"0000918651"	"00005458"	"90"	"664"	"0"	"664"	"0"	"c.664G>C"	"r.(?)"	"p.(Gly222Arg)"	""	""	""	""
"0000918652"	"00005458"	"90"	"952"	"-1"	"952"	"-1"	"c.952-1G>T"	"r.spl"	"p.?"	""	""	""	""
"0000918653"	"00005458"	"90"	"1330"	"0"	"1330"	"0"	"c.1330G>A"	"r.(?)"	"p.(Gly444Arg)"	""	""	""	""
"0000918654"	"00005458"	"90"	"2392"	"-2"	"2392"	"-2"	"c.2392-2A>G"	"r.spl"	"p.?"	""	""	""	""
"0000918655"	"00005458"	"90"	"1502"	"0"	"1502"	"0"	"c.1502G>A"	"r.(?)"	"p.(Gly501Glu)"	""	""	""	""
"0000918656"	"00005458"	"90"	"656"	"0"	"656"	"0"	"c.656G>A"	"r.(?)"	"p.(Gly219Asp)"	""	""	""	""
"0000918657"	"00005458"	"90"	"0"	"0"	"0"	"0"	"c.-107_*972{0}"	"r.0"	"p.0"	"_1_51_"	""	""	""
"0000918658"	"00005458"	"90"	"3212"	"0"	"3212"	"0"	"c.3212G>T"	"r.(?)"	"p.(Gly1071Val)"	""	""	""	""
"0000918659"	"00005458"	"90"	"2851"	"0"	"2851"	"0"	"c.2851G>A"	"r.(?)"	"p.(Gly951Arg)"	""	""	""	""
"0000918660"	"00005458"	"90"	"4294"	"0"	"4294"	"0"	"c.4294C>T"	"r.(?)"	"p.(Arg1432*)"	""	""	""	""
"0000918661"	"00005458"	"90"	"1915"	"0"	"1915"	"0"	"c.1915G>A"	"r.(?)"	"p.(Gly639Arg)"	""	""	""	""
"0000918662"	"00005458"	"90"	"1295"	"0"	"1295"	"0"	"c.1295G>T"	"r.(?)"	"p.(Gly432Val)"	""	""	""	""
"0000918663"	"00005458"	"90"	"0"	"0"	"0"	"0"	"c.-107_*972{0}"	"r.0"	"p.0"	"_1_51_"	""	""	""
"0000918664"	"00005458"	"90"	"1007"	"0"	"1007"	"0"	"c.1007G>A"	"r.(?)"	"p.(Gly336Asp)"	""	""	""	""
"0000918665"	"00005458"	"90"	"0"	"0"	"0"	"0"	"c.-107_*972{0}"	"r.0"	"p.0"	"_1_51_"	""	""	""
"0000918666"	"00005458"	"90"	"1761"	"1"	"1761"	"1"	"c.1761+1G>A"	"r.spl"	"p.(?)"	""	""	""	""
"0000918667"	"00005458"	"90"	"2834"	"0"	"2834"	"0"	"c.2834G>A"	"r.(?)"	"p.(Gly945Asp)"	""	""	""	""
"0000918668"	"00005458"	"90"	"755"	"0"	"755"	"0"	"c.755G>T"	"r.(?)"	"p.(Gly252Val)"	""	""	""	""
"0000918669"	"00005458"	"90"	"845"	"0"	"845"	"0"	"c.845G>A"	"r.(?)"	"p.(Gly282Glu)"	""	""	""	""
"0000918670"	"00005458"	"90"	"998"	"0"	"998"	"0"	"c.998G>A"	"r.(?)"	"p.(Gly333Asp)"	""	""	""	""
"0000918671"	"00005458"	"90"	"1618"	"0"	"1618"	"0"	"c.1618G>A"	"r.(?)"	"p.(Gly540Arg)"	""	""	""	""
"0000918672"	"00005458"	"90"	"537"	"0"	"554"	"0"	"c.537_554del"	"r.(?)"	"p.(Pro181_Gly186del)"	""	""	""	""
"0000918673"	"00005458"	"90"	"3284"	"0"	"3284"	"0"	"c.3284G>A"	"r.(?)"	"p.(Gly1095Asp)"	""	""	""	""
"0000918674"	"00005458"	"90"	"2177"	"0"	"2177"	"0"	"c.2177G>T"	"r.(?)"	"p.(Gly726Val)"	""	""	""	""
"0000918675"	"00005458"	"90"	"2483"	"0"	"2483"	"0"	"c.2483G>A"	"r.(?)"	"p.(Gly828Glu)"	""	""	""	""
"0000918676"	"00005458"	"90"	"2177"	"0"	"2177"	"0"	"c.2177G>T"	"r.(?)"	"p.(Gly726Val)"	""	""	""	""
"0000918677"	"00005458"	"90"	"690"	"1"	"690"	"1"	"c.690+1G>A"	"r.spl"	"p.(?)"	""	""	""	""
"0000918678"	"00005458"	"90"	"1979"	"0"	"1979"	"0"	"c.1979delG"	"r.(?)"	"p.(Gly660Valfs*131)"	""	""	""	""
"0000918679"	"00005458"	"90"	"2491"	"0"	"2491"	"0"	"c.2491G>C"	"r.(?)"	"p.(Gly831Arg)"	""	""	""	""
"0000918680"	"00005458"	"90"	"3201"	"1"	"3201"	"1"	"c.3201+1G>C"	"r.spl"	"p.(?)"	""	""	""	""
"0000918681"	"00005458"	"90"	"1744"	"0"	"1744"	"0"	"c.1744G>A"	"r.(?)"	"p.(Gly582Ser)"	""	""	""	""
"0000918682"	"00005458"	"90"	"3213"	"0"	"3221"	"0"	"c.3213_3221dup"	"r.(?)"	"p.(Pro1072_Gly1074dup)"	""	""	""	""
"0000918683"	"00005458"	"90"	"0"	"0"	"0"	"0"	"c.-107_*972{0}"	"r.0"	"p.0"	"_1_51_"	""	""	""
"0000918684"	"00005458"	"90"	"2068"	"0"	"2068"	"0"	"c.2068G>A"	"r.(?)"	"p.(Gly690Arg)"	""	""	""	""
"0000918685"	"00005458"	"90"	"592"	"0"	"592"	"0"	"c.592G>T"	"r.(?)"	"p.(Gly198*)"	""	""	""	""
"0000918686"	"00005458"	"90"	"755"	"0"	"755"	"0"	"c.755G>T"	"r.(?)"	"p.(Gly252Val)"	""	""	""	""
"0000918687"	"00005458"	"90"	"2339"	"0"	"2339"	"0"	"c.2339G>A"	"r.(?)"	"p.(Gly780Asp)"	""	""	""	""
"0000918688"	"00005458"	"90"	"2356"	"0"	"2356"	"0"	"c.2356G>A"	"r.(?)"	"p.(Gly786Arg)"	""	""	""	""
"0000918689"	"00005458"	"90"	"539"	"0"	"539"	"0"	"c.539G>A"	"r.(?)"	"p.(Gly180Asp)"	""	""	""	""
"0000918690"	"00005458"	"90"	"3391"	"0"	"3391"	"0"	"c.3391G>A"	"r.(?)"	"p.(Gly1131Ser)"	""	""	""	""
"0000918691"	"00005458"	"90"	"2285"	"0"	"2285"	"0"	"c.2285G>T"	"r.(?)"	"p.(Gly762Val)"	""	""	""	""
"0000918692"	"00005458"	"90"	"2329"	"0"	"2329"	"0"	"c.2329G>C"	"r.(?)"	"p.(Gly777Arg)"	""	""	""	""
"0000918693"	"00005458"	"90"	"1258"	"0"	"1258"	"0"	"c.1258G>A"	"r.(?)"	"p.(Gly420Ser)"	""	""	""	""
"0000918694"	"00005458"	"90"	"3823"	"1"	"3823"	"1"	"c.3823+1G>A"	"r.spl"	"p.(?)"	""	""	""	""
"0000918695"	"00005458"	"90"	"2924"	"0"	"2924"	"0"	"c.2924G>T"	"r.(?)"	"p.(Gly975Val)"	""	""	""	""
"0000918902"	"00005458"	"50"	"334"	"-11"	"334"	"-11"	"c.334-11C>G"	"r.spl?"	"p.(?)"	"3i"	""	""	""
"0000918904"	"00005458"	"30"	"515"	"0"	"515"	"0"	"c.515A>C"	"r.(?)"	"p.(Tyr172Ser)"	"5"	""	""	""
"0000922735"	"00005458"	"90"	"709"	"0"	"709"	"0"	"c.709G>A"	"r.(?)"	"p.(Gly237Arg)"	""	""	""	""
"0000923532"	"00005458"	"30"	"80"	"-16"	"80"	"-16"	"c.80-16C>T"	"r.(=)"	"p.(=)"	""	""	""	""
"0000923533"	"00005458"	"50"	"121"	"0"	"121"	"0"	"c.121G>T"	"r.(?)"	"p.(Asp41Tyr)"	""	""	""	""
"0000923534"	"00005458"	"30"	"1659"	"0"	"1659"	"0"	"c.1659T>A"	"r.(?)"	"p.(Pro553=)"	""	""	""	""
"0000923535"	"00005458"	"30"	"1870"	"-10"	"1870"	"-10"	"c.1870-10A>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000923536"	"00005458"	"30"	"1978"	"-117"	"1978"	"-117"	"c.1978-117A>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000923537"	"00005458"	"50"	"3151"	"0"	"3151"	"0"	"c.3151C>A"	"r.(?)"	"p.(Pro1051Thr)"	""	""	""	""
"0000923538"	"00005458"	"30"	"3364"	"-8"	"3364"	"-8"	"c.3364-8C>T"	"r.(=)"	"p.(=)"	""	""	""	""
"0000923539"	"00005458"	"30"	"3654"	"0"	"3654"	"0"	"c.3654G>T"	"r.(?)"	"p.(Pro1218=)"	""	""	""	""
"0000928446"	"00005458"	"30"	"1608"	"28"	"1608"	"28"	"c.1608+28A>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000928447"	"00005458"	"30"	"1854"	"0"	"1854"	"0"	"c.1854A>T"	"r.(?)"	"p.(Gly618=)"	""	""	""	""
"0000928448"	"00005458"	"30"	"1923"	"169"	"1923"	"169"	"c.1923+169G>A"	"r.(=)"	"p.(=)"	""	""	""	""
"0000928449"	"00005458"	"30"	"1978"	"-135"	"1978"	"-135"	"c.1978-135A>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000928450"	"00005458"	"50"	"2498"	"0"	"2498"	"0"	"c.2498A>G"	"r.(?)"	"p.(Lys833Arg)"	""	""	""	""
"0000928451"	"00005458"	"70"	"2553"	"1"	"2553"	"1"	"c.2553+1G>A"	"r.spl?"	"p.?"	""	""	""	""
"0000928452"	"00005458"	"50"	"3151"	"0"	"3151"	"0"	"c.3151C>A"	"r.(?)"	"p.(Pro1051Thr)"	""	""	""	""
"0000936026"	"00005458"	"90"	"528"	"5"	"528"	"5"	"c.528+5G>A"	"r.spl?"	"p.?"	""	""	""	""
"0000944866"	"00005458"	"30"	"472"	"0"	"472"	"0"	"c.472T>A"	"r.(?)"	"p.(Tyr158Asn)"	""	""	""	""
"0000947647"	"00005458"	"30"	"582"	"174"	"582"	"174"	"c.582+174A>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000947648"	"00005458"	"30"	"583"	"-14"	"583"	"-14"	"c.583-14A>T"	"r.(=)"	"p.(=)"	""	""	""	""
"0000947649"	"00005458"	"30"	"897"	"16"	"897"	"16"	"c.897+16dup"	"r.(=)"	"p.(=)"	""	""	""	""
"0000947650"	"00005458"	"50"	"1057"	"0"	"1057"	"0"	"c.1057G>T"	"r.(?)"	"p.(Val353Phe)"	""	""	""	""
"0000947651"	"00005458"	"10"	"1348"	"-4"	"1348"	"-4"	"c.1348-4dup"	"r.spl?"	"p.?"	""	""	""	""
"0000947652"	"00005458"	"30"	"1510"	"-38"	"1510"	"-38"	"c.1510-38G>A"	"r.(=)"	"p.(=)"	""	""	""	""
"0000947653"	"00005458"	"30"	"1869"	"46"	"1869"	"46"	"c.1869+46G>T"	"r.(=)"	"p.(=)"	""	""	""	""
"0000947654"	"00005458"	"30"	"1977"	"9"	"1977"	"9"	"c.1977+9C>T"	"r.(=)"	"p.(=)"	""	""	""	""
"0000947655"	"00005458"	"90"	"2229"	"1"	"2229"	"1"	"c.2229+1G>T"	"r.spl?"	"p.?"	""	""	""	""
"0000947656"	"00005458"	"30"	"2230"	"-27"	"2230"	"-27"	"c.2230-27C>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000947657"	"00005458"	"30"	"2284"	"-228"	"2284"	"-228"	"c.2284-228A>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000947658"	"00005458"	"90"	"2284"	"0"	"2284"	"0"	"c.2284G>C"	"r.(?)"	"p.(Gly762Arg)"	""	""	""	""
"0000947659"	"00005458"	"90"	"2689"	"0"	"2689"	"0"	"c.2689G>A"	"r.(?)"	"p.(Gly897Ser)"	""	""	""	""
"0000947660"	"00005458"	"30"	"2700"	"0"	"2700"	"0"	"c.2700C>T"	"r.(?)"	"p.(Gly900=)"	""	""	""	""
"0000947661"	"00005458"	"30"	"2932"	"-8"	"2932"	"-8"	"c.2932-8G>C"	"r.(=)"	"p.(=)"	""	""	""	""
"0000947662"	"00005458"	"30"	"3202"	"-85"	"3202"	"-85"	"c.3202-85A>T"	"r.(=)"	"p.(=)"	""	""	""	""
"0000947663"	"00005458"	"30"	"3256"	"-242"	"3256"	"-242"	"c.3256-242A>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000947664"	"00005458"	"10"	"3613"	"0"	"3613"	"0"	"c.3613A>G"	"r.(?)"	"p.(Ile1205Val)"	""	""	""	""
"0000947665"	"00005458"	"30"	"3824"	"-252"	"3824"	"-252"	"c.3824-252A>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000957709"	"00005458"	"70"	"3938"	"0"	"3938"	"0"	"c.3938A>G"	"r.(?)"	"p.(Lys1313Arg)"	""	""	""	""
"0000960174"	"00005458"	"90"	"2231"	"0"	"2231"	"0"	"c.2231G>A"	"r.(?)"	"p.(Gly744Asp)"	""	""	""	""
"0000961749"	"00005458"	"30"	"334"	"-97"	"334"	"-97"	"c.334-97G>A"	"r.(=)"	"p.(=)"	""	""	""	""
"0000961750"	"00005458"	"30"	"690"	"239"	"690"	"239"	"c.690+239A>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000961751"	"00005458"	"30"	"745"	"-58"	"745"	"-58"	"c.745-58T>A"	"r.(=)"	"p.(=)"	""	""	""	""
"0000961752"	"00005458"	"30"	"1762"	"-220"	"1762"	"-220"	"c.1762-220C>T"	"r.(=)"	"p.(=)"	""	""	""	""
"0000961753"	"00005458"	"50"	"1786"	"0"	"1786"	"0"	"c.1786C>G"	"r.(?)"	"p.(Arg596Gly)"	""	""	""	""
"0000961754"	"00005458"	"30"	"1923"	"157"	"1923"	"157"	"c.1923+157G>A"	"r.(=)"	"p.(=)"	""	""	""	""
"0000961755"	"00005458"	"30"	"1923"	"251"	"1923"	"251"	"c.1923+251C>T"	"r.(=)"	"p.(=)"	""	""	""	""
"0000961756"	"00005458"	"30"	"2056"	"0"	"2056"	"0"	"c.2056C>G"	"r.(?)"	"p.(Pro686Ala)"	""	""	""	""
"0000961757"	"00005458"	"30"	"2229"	"73"	"2229"	"73"	"c.2229+73A>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000961758"	"00005458"	"30"	"2392"	"-42"	"2392"	"-42"	"c.2392-42C>T"	"r.(=)"	"p.(=)"	""	""	""	""
"0000961759"	"00005458"	"30"	"2608"	"-19"	"2608"	"-19"	"c.2608-19A>C"	"r.(=)"	"p.(=)"	""	""	""	""
"0000961760"	"00005458"	"90"	"2791"	"0"	"2791"	"0"	"c.2791G>A"	"r.(?)"	"p.(Glu931Lys)"	""	""	""	""
"0000961761"	"00005458"	"30"	"2931"	"126"	"2931"	"126"	"c.2931+126dup"	"r.(=)"	"p.(=)"	""	""	""	""
"0000961762"	"00005458"	"30"	"3094"	"-31"	"3094"	"-31"	"c.3094-31G>A"	"r.(=)"	"p.(=)"	""	""	""	""
"0000961763"	"00005458"	"30"	"3526"	"-222"	"3526"	"-222"	"c.3526-222G>A"	"r.(=)"	"p.(=)"	""	""	""	""
"0000961764"	"00005458"	"30"	"4254"	"322"	"4254"	"322"	"c.4254+322T>C"	"r.(=)"	"p.(=)"	""	""	""	""
"0000972077"	"00005458"	"90"	"3779"	"0"	"3779"	"0"	"c.3779del"	"r.(?)"	"p.(Arg1260Lysfs*6)"	"48"	"deletion, small"	"frameshift"	""
"0000974808"	"00005458"	"30"	"80"	"-226"	"80"	"-226"	"c.80-226G>C"	"r.(=)"	"p.(=)"	""	""	""	""
"0000974809"	"00005458"	"30"	"583"	"-191"	"583"	"-191"	"c.583-191G>T"	"r.(=)"	"p.(=)"	""	""	""	""
"0000974810"	"00005458"	"50"	"739"	"0"	"739"	"0"	"c.739C>A"	"r.(?)"	"p.(Pro247Thr)"	""	""	""	""
"0000974811"	"00005458"	"50"	"752"	"0"	"752"	"0"	"c.752A>G"	"r.(?)"	"p.(Lys251Arg)"	""	""	""	""
"0000974812"	"00005458"	"30"	"852"	"60"	"852"	"60"	"c.852+60A>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000974813"	"00005458"	"30"	"1348"	"-18"	"1348"	"-18"	"c.1348-18A>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000974814"	"00005458"	"30"	"1663"	"-71"	"1663"	"-70"	"c.1663-71_1663-70del"	"r.(=)"	"p.(=)"	""	""	""	""
"0000974815"	"00005458"	"50"	"1787"	"0"	"1787"	"0"	"c.1787G>A"	"r.(?)"	"p.(Arg596Gln)"	""	""	""	""
"0000974816"	"00005458"	"90"	"1790"	"0"	"1790"	"0"	"c.1790G>A"	"r.(?)"	"p.(Gly597Asp)"	""	""	""	""
"0000974817"	"00005458"	"30"	"2392"	"-97"	"2392"	"-97"	"c.2392-97T>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000974818"	"00005458"	"50"	"2587"	"0"	"2587"	"0"	"c.2587C>T"	"r.(?)"	"p.(Arg863Cys)"	""	""	""	""
"0000974819"	"00005458"	"50"	"4052"	"0"	"4052"	"0"	"c.4052A>G"	"r.(?)"	"p.(Asp1351Gly)"	""	""	""	""
"0000974820"	"00005458"	"50"	"4088"	"0"	"4088"	"0"	"c.4088G>A"	"r.(?)"	"p.(Arg1363Gln)"	""	""	""	""
"0000974821"	"00005458"	"50"	"4340"	"0"	"4340"	"0"	"c.4340A>C"	"r.(?)"	"p.(Tyr1447Ser)"	""	""	""	""
"0000974822"	"00005458"	"50"	"4394"	"0"	"4394"	"0"	"c.4394T>G"	"r.(?)"	"p.(Phe1465Cys)"	""	""	""	""
"0000989384"	"00005458"	"70"	"1510"	"-8"	"1510"	"-8"	"c.1510-8C>T"	"r.(?)"	"p.(?)"	""	""	""	""
"0000989396"	"00005458"	"79"	"1826"	"0"	"1826"	"0"	"c.1826G>T"	"r.(?)"	"p.(Gly609Val)"	""	"substitution"	"missense"	""
"0000992295"	"00005458"	"30"	"898"	"-14"	"898"	"-14"	"c.898-14A>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000992296"	"00005458"	"30"	"951"	"9"	"951"	"9"	"c.951+9A>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000992297"	"00005458"	"90"	"1024"	"0"	"1024"	"0"	"c.1024G>A"	"r.(?)"	"p.(Gly342Arg)"	""	""	""	""
"0000992298"	"00005458"	"90"	"1618"	"0"	"1618"	"0"	"c.1618G>A"	"r.(?)"	"p.(Gly540Arg)"	""	""	""	""
"0000992299"	"00005458"	"30"	"1815"	"5"	"1815"	"5"	"c.1815+5G>A"	"r.spl?"	"p.?"	""	""	""	""
"0000992300"	"00005458"	"70"	"2661"	"2"	"2661"	"2"	"c.2661+2T>A"	"r.spl?"	"p.?"	""	""	""	""
"0000992301"	"00005458"	"30"	"2844"	"0"	"2844"	"0"	"c.2844G>A"	"r.(?)"	"p.(=)"	""	""	""	""
"0000992302"	"00005458"	"90"	"3325"	"0"	"3325"	"0"	"c.3325C>T"	"r.(?)"	"p.(Arg1109*)"	""	""	""	""
"0000992303"	"00005458"	"30"	"3525"	"120"	"3525"	"120"	"c.3525+120A>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0000992304"	"00005458"	"30"	"3938"	"0"	"3938"	"0"	"c.3938A>G"	"r.(?)"	"p.(Lys1313Arg)"	""	""	""	""
"0000992305"	"00005458"	"50"	"4043"	"0"	"4043"	"0"	"c.4043A>C"	"r.(?)"	"p.(Asp1348Ala)"	""	""	""	""
"0000992306"	"00005458"	"50"	"4084"	"0"	"4084"	"0"	"c.4084A>C"	"r.(?)"	"p.(Ser1362Arg)"	""	""	""	""
"0000992307"	"00005458"	"30"	"4215"	"0"	"4215"	"0"	"c.4215T>C"	"r.(?)"	"p.(=)"	""	""	""	""
"0000992308"	"00005458"	"50"	"4301"	"0"	"4301"	"0"	"c.4301G>A"	"r.(?)"	"p.(Arg1434His)"	""	""	""	""
"0001010101"	"00005458"	"79"	"4323"	"0"	"4329"	"0"	"c.4323_4329delinsGAC"	"r.?"	"p.(Ile1441MetfsTer31)"	""	"delins"	"frameshift"	""
"0001010339"	"00005458"	"79"	"3059"	"0"	"3059"	"0"	"c.3059G>A"	"r.?"	"p.(Gly1020Asp)"	""	"substitution"	"missense"	""
"0001011383"	"00005458"	"79"	"2195"	"0"	"2195"	"0"	"c.2195G>A"	"r.?"	"p.(Gly732Glu)"	""	"substitution"	"missense"	""
"0001011384"	"00005458"	"79"	"565"	"0"	"565"	"0"	"c.565G>T"	"r.?"	"p.(Gly189Cys)"	""	"substitution"	"missense"	""
"0001011385"	"00005458"	"79"	"2356"	"0"	"2356"	"0"	"c.2356G>A"	"r.?"	"p.(Gly786Arg)"	""	"substitution"	"missense"	""
"0001011386"	"00005458"	"79"	"1205"	"0"	"1205"	"0"	"c.1205G>A"	"r.?"	"p.(Gly402Asp)"	""	"substitution"	"missense"	""
"0001011387"	"00005458"	"79"	"3284"	"0"	"3284"	"0"	"c.3284G>A"	"r.?"	"p.(Gly1095Asp)"	""	"substitution"	"missense"	""
"0001011388"	"00005458"	"77"	"582"	"1"	"582"	"1"	"c.582+1G>A"	"r.?"	"p.?"	""	"substitution"	"splicing affected?"	""
"0001011389"	"00005458"	"77"	"2337"	"2"	"2337"	"6"	"c.2337+2_2337+6del"	"r.?"	"p.?"	""	"deletion"	"splicing affected?"	""
"0001011410"	"00005458"	"79"	"2816"	"0"	"2816"	"0"	"c.2816G>A"	"r.?"	"p.(Gly939Asp)"	""	"substitution"	"missense"	""
"0001011412"	"00005458"	"79"	"4250"	"0"	"4250"	"0"	"c.4250G>A"	"r.?"	"p.(Cys1417Tyr)"	""	"substitution"	"missense"	""
"0001011413"	"00005458"	"79"	"2068"	"0"	"2068"	"0"	"c.2068G>A"	"r.?"	"p.(Gly690Arg)"	""	"substitution"	"missense"	""
"0001011416"	"00005458"	"79"	"2689"	"0"	"2689"	"0"	"c.2689G>A"	"r.?"	"p.(Gly897Ser)"	""	"substitution"	"missense"	""
"0001011418"	"00005458"	"79"	"998"	"0"	"998"	"0"	"c.998G>A"	"r.?"	"p.(Gly333Asp)"	""	"substitution"	"missense"	""
"0001011420"	"00005458"	"79"	"2212"	"0"	"2212"	"0"	"c.2212G>C"	"r.?"	"p.(Gly738Arg)"	""	"substitution"	"missense"	""
"0001011422"	"00005458"	"79"	"925"	"0"	"925"	"0"	"c.925G>A"	"r.?"	"p.(Gly309Arg)"	""	"substitution"	"missense"	""
"0001011424"	"00005458"	"79"	"656"	"0"	"656"	"0"	"c.656G>A"	"r.?"	"p.(Gly219Asp)"	""	"substitution"	"missense"	""
"0001011426"	"00005458"	"79"	"1969"	"0"	"1969"	"0"	"c.1969G>T"	"r.?"	"p.(Gly657Trp)"	""	"substitution"	"missense"	""
"0001011514"	"00005458"	"79"	"2044"	"0"	"2044"	"0"	"c.2044G>A"	"r.?"	"p.(Glu682Lys)"	""	"substitution"	"missense"	""
"0001011515"	"00005458"	"77"	"2553"	"2"	"2553"	"2"	"c.2553+2T>A"	"r.?"	"p.?"	""	"substitution"	"splicing affected?"	""
"0001011516"	"00005458"	"77"	"898"	"-2"	"898"	"-2"	"c.898-2A>G"	"r.?"	"p.?"	""	"substitution"	"splicing affected?"	""
"0001011517"	"00005458"	"79"	"574"	"0"	"574"	"0"	"c.574G>C"	"r.?"	"p.(Gly192Arg)"	""	"substitution"	"missense"	""
"0001011518"	"00005458"	"77"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"p.?"	""	"substitution"	"splicing affected?"	""
"0001011519"	"00005458"	"77"	"4294"	"0"	"4294"	"0"	"c.4294C>T"	"r.?"	"p.(Arg1432Ter)"	""	"substitution"	"nonsense"	""
"0001011520"	"00005458"	"79"	"2410"	"0"	"2410"	"0"	"c.2410G>A"	"r.?"	"p.(Gly804Ser)"	""	"substitution"	"missense"	""
"0001011521"	"00005458"	"79"	"3284"	"0"	"3284"	"0"	"c.3284G>T"	"r.?"	"p.(Gly1095Val)"	""	"substitution"	"missense"	""
"0001013586"	"00005458"	"30"	"225"	"0"	"225"	"0"	"c.225C>A"	"r.(?)"	"p.(=)"	""	""	""	""
"0001013587"	"00005458"	"50"	"1264"	"0"	"1264"	"0"	"c.1264A>G"	"r.(?)"	"p.(Asn422Asp)"	""	""	""	""
"0001013588"	"00005458"	"50"	"1526"	"0"	"1526"	"0"	"c.1526G>A"	"r.(?)"	"p.(Arg509His)"	""	""	""	""
"0001013589"	"00005458"	"50"	"1526"	"0"	"1526"	"0"	"c.1526G>A"	"r.(?)"	"p.(Arg509His)"	""	""	""	""
"0001013590"	"00005458"	"90"	"2356"	"0"	"2356"	"0"	"c.2356G>A"	"r.(?)"	"p.(Gly786Arg)"	""	""	""	""
"0001013591"	"00005458"	"50"	"4135"	"0"	"4135"	"0"	"c.4135A>G"	"r.(?)"	"p.(Met1379Val)"	""	""	""	""
"0001013592"	"00005458"	"50"	"4198"	"0"	"4198"	"0"	"c.4198T>C"	"r.(?)"	"p.(Phe1400Leu)"	""	""	""	""
"0001013593"	"00005458"	"50"	"4198"	"0"	"4198"	"0"	"c.4198T>C"	"r.(?)"	"p.(Phe1400Leu)"	""	""	""	""
"0001017851"	"00005458"	"79"	"2194"	"0"	"2194"	"0"	"c.2194G>A"	"r.?"	"p.(Gly732Arg)"	""	"substitution"	"missense"	""
"0001017852"	"00005458"	"79"	"3525"	"1"	"3525"	"1"	"c.3525+1G>A"	"r.?"	"p.?"	""	""	"splicing affected?"	""
"0001017853"	"00005458"	"79"	"1304"	"0"	"1304"	"0"	"c.1304G>A"	"r.?"	"p.(Gly435Asp)"	""	"substitution"	"missense"	""
"0001017854"	"00005458"	"79"	"1349"	"0"	"1349"	"0"	"c.1349G>T"	"r.?"	"p.(Gly450Val)"	""	"substitution"	"missense"	""
"0001017855"	"00005458"	"79"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"p.?"	""	""	"splicing affected?"	""
"0001017856"	"00005458"	"79"	"2194"	"0"	"2194"	"0"	"c.2194G>A"	"r.?"	"p.(Gly732Arg)"	""	"substitution"	"missense"	""
"0001017857"	"00005458"	"79"	"629"	"0"	"629"	"0"	"c.629G>A"	"r.?"	"p.(Gly210Asp)"	""	"substitution"	"missense"	""
"0001017858"	"00005458"	"79"	"3636"	"0"	"3637"	"0"	"c.3636_3637delinsC"	"r.?"	"p.(Lys1212AsnfsTer24)"	""	""	""	""
"0001017859"	"00005458"	"79"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.?"	"p.?"	""	""	"splicing affected?"	""
"0001017860"	"00005458"	"79"	"565"	"0"	"565"	"0"	"c.565G>A"	"r.?"	"p.(Gly189Ser)"	""	"substitution"	"missense"	""
"0001017861"	"00005458"	"79"	"2044"	"0"	"2044"	"0"	"c.2044G>A"	"r.?"	"p.(Glu682Lys)"	""	"substitution"	"missense"	""
"0001017862"	"00005458"	"79"	"2564"	"0"	"2564"	"0"	"c.2564G>A"	"r.?"	"p.(Gly855Asp)"	""	"substitution"	"missense"	""
"0001017863"	"00005458"	"77"	"1347"	"2"	"1347"	"2"	"c.1347+2dup"	"r.?"	"p.?"	""	""	"splicing affected"	""
"0001017864"	"00005458"	"79"	"3418"	"-32"	"3570"	"0"	"c.3418-32_3570del"	"r.?"	"p.?"	""	""	"deletion"	""
"0001017866"	"00005458"	"79"	"1744"	"0"	"1744"	"0"	"c.1744G>A"	"r.?"	"p.(Gly582Ser)"	""	"substitution"	"missense"	""
"0001017867"	"00005458"	"79"	"3221"	"0"	"3221"	"0"	"c.3221G>A"	"r.?"	"p.(Gly1074Asp)"	""	"substitution"	"missense"	""
"0001017868"	"00005458"	"79"	"970"	"0"	"970"	"0"	"c.970G>A"	"r.?"	"p.(Gly324Ser)"	""	"substitution"	"missense"	""
"0001017869"	"00005458"	"79"	"2553"	"1"	"2553"	"1"	"c.2553+1G>A"	"r.?"	"p.?"	""	""	"splicing affected?"	""
"0001017870"	"00005458"	"79"	"2798"	"0"	"2798"	"0"	"c.2798G>T"	"r.?"	"p.(Gly933Val)"	""	"substitution"	"missense"	""
"0001017871"	"00005458"	"79"	"548"	"0"	"548"	"0"	"c.548G>A"	"r.?"	"p.(Gly183Asp)"	""	"substitution"	"missense"	""
"0001017872"	"00005458"	"79"	"2554"	"-1"	"2661"	"1"	"c.(2553+1_2554-1)_(2661+1_2662-1)del"	"r.?"	"p.?"	""	""	""	""
"0001017896"	"00005458"	"99"	"547"	"0"	"547"	"0"	"c.547G>A"	"r.(?)"	"p.(Gly183Ser)"	""	"substitution"	"missense"	""
"0001017897"	"00005458"	"99"	"1537"	"0"	"1537"	"0"	"c.1537G>A"	"r.(?)"	"p.(Gly513Ser)"	""	"substitution"	"missense"	""
"0001017898"	"00005458"	"99"	"1862"	"0"	"1862"	"0"	"c.1862G>A"	"r.(?)"	"p.(Gly621Glu)"	""	"substitution"	"missense"	""
"0001017899"	"00005458"	"99"	"1987"	"0"	"1987"	"0"	"c.1987G>A"	"r.(?)"	"p.(Gly663Ser)"	""	"substitution"	"missense"	""
"0001017900"	"00005458"	"97"	"2445"	"5"	"2445"	"5"	"c.2445+5G>C"	"r.spl?"	"p.?"	""	"substitution"	"splicing affected"	""
"0001017901"	"00005458"	"99"	"2726"	"0"	"2726"	"0"	"c.2726G>A"	"r.(?)"	"p.(Gly909Asp)"	""	"substitution"	"missense"	""
"0001017902"	"00005458"	"99"	"2780"	"0"	"2780"	"0"	"c.2780G>A"	"r.(?)"	"p.(Gly927Asp)"	""	"substitution"	"missense"	""
"0001017903"	"00005458"	"99"	"3572"	"0"	"3572"	"0"	"c.3572G>A"	"r.(?)"	"p.(Gly1191Asp)"	""	"substitution"	"missense"	""
"0001017926"	"00005458"	"79"	"836"	"0"	"836"	"0"	"c.836G>A"	"r.?"	"p.(Gly279Asp)"	""	"substitution"	"missense"	""
"0001017927"	"00005458"	"79"	"2213"	"0"	"2213"	"0"	"c.2213G>T"	"r.?"	"p.(Gly738Val)"	""	"substitution"	"missense"	""
"0001019128"	"00005458"	"30"	"1345"	"0"	"1345"	"0"	"c.1345C>T"	"r.(?)"	"p.(Arg449Cys)"	""	""	""	""
"0001021362"	"00005458"	"90"	"1663"	"-1"	"2337"	"1"	"c.(1662+1_1663-1)_(2337+1_2338-1)del"	"r.(1663_2337del)"	"p.(Ser556_Gly780del)"	"23i_33i"	"deletion"	""	""
"0001022208"	"00005458"	"50"	"1149"	"4"	"1149"	"4"	"c.1149+4A>G"	"r.[1052_1149del,=]"	"p.Glu352_Gly384del"	"16i"	""	""	""
"0001022215"	"00005458"	"70"	"1348"	"-1"	"1348"	"-1"	"c.1348-1G>T"	"r.1348_1353del"	"p.Gly450_Glu451del"	"19i"	""	""	""
"0001024443"	"00005458"	"30"	"898"	"-20"	"898"	"-20"	"c.898-20A>G"	"r.(=)"	"p.(=)"	""	""	""	""
"0001024444"	"00005458"	"30"	"1051"	"-13"	"1051"	"-13"	"c.1051-13G>A"	"r.(=)"	"p.(=)"	""	""	""	""
"0001024445"	"00005458"	"30"	"1150"	"-20"	"1150"	"-20"	"c.1150-20T>C"	"r.(=)"	"p.(=)"	""	""	""	""
"0001024446"	"00005458"	"30"	"1550"	"0"	"1550"	"0"	"c.1550C>T"	"r.(?)"	"p.(Pro517Leu)"	""	""	""	""
"0001024447"	"00005458"	"30"	"1608"	"12"	"1608"	"12"	"c.1608+12C>T"	"r.(=)"	"p.(=)"	""	""	""	""
"0001024448"	"00005458"	"90"	"1662"	"1"	"1662"	"1"	"c.1662+1G>A"	"r.spl?"	"p.?"	""	""	""	""
"0001024449"	"00005458"	"30"	"1804"	"0"	"1804"	"0"	"c.1804C>A"	"r.(?)"	"p.(Pro602Thr)"	""	""	""	""
"0001024450"	"00005458"	"90"	"1817"	"0"	"1817"	"0"	"c.1817G>A"	"r.(?)"	"p.(Gly606Asp)"	""	""	""	""
"0001024451"	"00005458"	"30"	"2035"	"0"	"2035"	"0"	"c.2035G>A"	"r.(?)"	"p.(Ala679Thr)"	""	""	""	""
"0001024452"	"00005458"	"30"	"2230"	"-31"	"2230"	"-31"	"c.2230-31G>A"	"r.(=)"	"p.(=)"	""	""	""	""
"0001024453"	"00005458"	"30"	"3525"	"19"	"3525"	"19"	"c.3525+19del"	"r.(=)"	"p.(=)"	""	""	""	""
"0001024454"	"00005458"	"50"	"3938"	"0"	"3938"	"0"	"c.3938A>G"	"r.(?)"	"p.(Lys1313Arg)"	""	""	""	""
"0001024455"	"00005458"	"30"	"3938"	"0"	"3938"	"0"	"c.3938A>G"	"r.(?)"	"p.(Lys1313Arg)"	""	""	""	""
"0001024456"	"00005458"	"50"	"4319"	"0"	"4319"	"0"	"c.4319C>T"	"r.(?)"	"p.(Pro1440Leu)"	""	""	""	""
"0001029697"	"00005458"	"50"	"868"	"0"	"868"	"0"	"c.868C>T"	"r.(?)"	"p.(Pro290Ser)"	""	""	""	""
"0001032851"	"00005458"	"30"	"130"	"0"	"130"	"0"	"c.130G>A"	"r.(?)"	"p.(Val44Ile)"	""	""	""	""
"0001032852"	"00005458"	"30"	"747"	"0"	"747"	"0"	"c.747T>C"	"r.(?)"	"p.(=)"	""	""	""	""
"0001032853"	"00005458"	"50"	"752"	"0"	"752"	"0"	"c.752A>G"	"r.(?)"	"p.(Lys251Arg)"	""	""	""	""
"0001032854"	"00005458"	"50"	"959"	"0"	"959"	"0"	"c.959G>A"	"r.(?)"	"p.(Arg320Gln)"	""	""	""	""
"0001032855"	"00005458"	"50"	"1237"	"0"	"1237"	"0"	"c.1237C>T"	"r.(?)"	"p.(Arg413Trp)"	""	""	""	""
"0001032856"	"00005458"	"50"	"1513"	"0"	"1513"	"0"	"c.1513C>T"	"r.(?)"	"p.(Pro505Ser)"	""	""	""	""
"0001032857"	"00005458"	"90"	"1817"	"0"	"1817"	"0"	"c.1817G>T"	"r.(?)"	"p.(Gly606Val)"	""	""	""	""
"0001032858"	"00005458"	"30"	"2355"	"0"	"2355"	"0"	"c.2355C>G"	"r.(?)"	"p.(=)"	""	""	""	""
"0001032859"	"00005458"	"50"	"2723"	"0"	"2723"	"0"	"c.2723C>T"	"r.(?)"	"p.(Ala908Val)"	""	""	""	""
"0001032860"	"00005458"	"90"	"2959"	"0"	"2959"	"0"	"c.2959G>A"	"r.(?)"	"p.(Gly987Ser)"	""	""	""	""
"0001032861"	"00005458"	"50"	"4073"	"0"	"4073"	"0"	"c.4073G>A"	"r.(?)"	"p.(Arg1358Gln)"	""	""	""	""
"0001032862"	"00005458"	"50"	"4300"	"0"	"4300"	"0"	"c.4300C>T"	"r.(?)"	"p.(Arg1434Cys)"	""	""	""	""
"0001045791"	"00005458"	"50"	"776"	"0"	"776"	"0"	"c.776T>C"	"r.(?)"	"p.(Phe259Ser)"	""	""	""	""
"0001045792"	"00005458"	"50"	"1472"	"0"	"1472"	"0"	"c.1472G>A"	"r.(?)"	"p.(Arg491Gln)"	""	""	""	""
"0001046982"	"00005458"	"50"	"2443"	"0"	"2443"	"0"	"c.2443C>T"	"r.(?)"	"p.(Pro815Ser)"	""	""	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1461
"{{screeningid}}"	"{{variantid}}"
"0000050648"	"0000079628"
"0000081404"	"0000130533"
"0000104489"	"0000169355"
"0000164770"	"0000368372"
"0000209676"	"0000439891"
"0000290011"	"0000645992"
"0000290212"	"0000646865"
"0000293672"	"0000650361"
"0000293673"	"0000650362"
"0000293674"	"0000650363"
"0000293675"	"0000650364"
"0000293676"	"0000650365"
"0000293677"	"0000650366"
"0000293678"	"0000650367"
"0000293679"	"0000650368"
"0000296346"	"0000653035"
"0000296463"	"0000653152"
"0000297503"	"0000660105"
"0000302205"	"0000665316"
"0000305891"	"0000669579"
"0000316682"	"0000698844"
"0000319377"	"0000702087"
"0000319378"	"0000702088"
"0000319379"	"0000702089"
"0000319380"	"0000702090"
"0000319381"	"0000702091"
"0000319382"	"0000702092"
"0000319383"	"0000702093"
"0000319384"	"0000702094"
"0000319385"	"0000702095"
"0000319386"	"0000702096"
"0000319387"	"0000702097"
"0000319388"	"0000702098"
"0000319389"	"0000702099"
"0000319390"	"0000702100"
"0000319391"	"0000702101"
"0000319392"	"0000702102"
"0000319393"	"0000702103"
"0000319394"	"0000702104"
"0000319395"	"0000702105"
"0000319396"	"0000702106"
"0000319397"	"0000702107"
"0000319398"	"0000702108"
"0000319399"	"0000702109"
"0000319400"	"0000702110"
"0000319401"	"0000702111"
"0000319402"	"0000702112"
"0000319403"	"0000702113"
"0000319404"	"0000702114"
"0000319405"	"0000702115"
"0000319406"	"0000702116"
"0000319407"	"0000702117"
"0000319408"	"0000702118"
"0000319409"	"0000702119"
"0000319410"	"0000702120"
"0000319411"	"0000702121"
"0000319412"	"0000702122"
"0000319413"	"0000702123"
"0000319414"	"0000702124"
"0000319415"	"0000702125"
"0000319416"	"0000702126"
"0000319417"	"0000702127"
"0000319418"	"0000702128"
"0000319419"	"0000702129"
"0000319420"	"0000702130"
"0000319421"	"0000702131"
"0000319422"	"0000702132"
"0000319423"	"0000702133"
"0000319424"	"0000702134"
"0000319425"	"0000702135"
"0000319426"	"0000702136"
"0000319427"	"0000702137"
"0000319428"	"0000702138"
"0000319429"	"0000702139"
"0000319430"	"0000702140"
"0000319431"	"0000702141"
"0000319432"	"0000702142"
"0000319433"	"0000702143"
"0000319434"	"0000702144"
"0000319435"	"0000702145"
"0000319436"	"0000702146"
"0000319437"	"0000702147"
"0000319438"	"0000702148"
"0000319439"	"0000702149"
"0000319440"	"0000702150"
"0000319441"	"0000702151"
"0000319442"	"0000702152"
"0000319443"	"0000702153"
"0000319444"	"0000702154"
"0000319445"	"0000702155"
"0000319446"	"0000702156"
"0000319447"	"0000702157"
"0000319448"	"0000702158"
"0000319449"	"0000702159"
"0000319450"	"0000702160"
"0000319451"	"0000702161"
"0000319452"	"0000702162"
"0000319453"	"0000702163"
"0000319454"	"0000702164"
"0000319455"	"0000702165"
"0000319456"	"0000702166"
"0000319457"	"0000702167"
"0000319458"	"0000702168"
"0000319459"	"0000702169"
"0000319460"	"0000702170"
"0000319461"	"0000702171"
"0000319462"	"0000702172"
"0000319463"	"0000702173"
"0000319464"	"0000702174"
"0000319465"	"0000702175"
"0000319466"	"0000702176"
"0000319467"	"0000702177"
"0000319468"	"0000702178"
"0000319469"	"0000702179"
"0000319470"	"0000702180"
"0000319471"	"0000702181"
"0000319472"	"0000702182"
"0000319473"	"0000702183"
"0000319474"	"0000702184"
"0000319475"	"0000702185"
"0000319476"	"0000702186"
"0000319477"	"0000702187"
"0000319478"	"0000702188"
"0000319479"	"0000702189"
"0000319480"	"0000702190"
"0000319481"	"0000702191"
"0000319482"	"0000702192"
"0000319483"	"0000702193"
"0000319484"	"0000702194"
"0000319485"	"0000702195"
"0000319486"	"0000702196"
"0000319487"	"0000702197"
"0000319488"	"0000702198"
"0000319489"	"0000702199"
"0000319490"	"0000702200"
"0000319491"	"0000702201"
"0000319492"	"0000702202"
"0000319493"	"0000702203"
"0000319494"	"0000702204"
"0000319495"	"0000702205"
"0000319496"	"0000702206"
"0000319497"	"0000702207"
"0000319498"	"0000702208"
"0000319499"	"0000702209"
"0000319500"	"0000702210"
"0000319501"	"0000702211"
"0000319502"	"0000702212"
"0000319503"	"0000702213"
"0000319504"	"0000702214"
"0000319505"	"0000702215"
"0000319506"	"0000702216"
"0000319507"	"0000702217"
"0000319508"	"0000702218"
"0000319509"	"0000702219"
"0000319510"	"0000702220"
"0000319511"	"0000702221"
"0000319512"	"0000702222"
"0000319513"	"0000702223"
"0000319514"	"0000702224"
"0000319515"	"0000702225"
"0000319516"	"0000702226"
"0000319517"	"0000702227"
"0000319518"	"0000702228"
"0000319519"	"0000702229"
"0000319520"	"0000702230"
"0000319521"	"0000702231"
"0000319522"	"0000702232"
"0000319523"	"0000702233"
"0000319524"	"0000702234"
"0000319525"	"0000702235"
"0000319526"	"0000702236"
"0000319527"	"0000702237"
"0000319528"	"0000702238"
"0000319529"	"0000702239"
"0000319530"	"0000702240"
"0000319531"	"0000702241"
"0000319532"	"0000702242"
"0000319533"	"0000702243"
"0000319534"	"0000702244"
"0000319535"	"0000702245"
"0000319536"	"0000702246"
"0000319537"	"0000702247"
"0000319538"	"0000702248"
"0000319539"	"0000702249"
"0000319540"	"0000702250"
"0000319541"	"0000702251"
"0000319542"	"0000702252"
"0000319543"	"0000702253"
"0000319544"	"0000702254"
"0000319545"	"0000702255"
"0000319546"	"0000702256"
"0000319547"	"0000702257"
"0000319548"	"0000702258"
"0000319549"	"0000702259"
"0000319550"	"0000702260"
"0000319551"	"0000702261"
"0000319552"	"0000702262"
"0000319553"	"0000702263"
"0000319554"	"0000702264"
"0000319555"	"0000702265"
"0000319556"	"0000702266"
"0000319557"	"0000702267"
"0000319558"	"0000702268"
"0000319559"	"0000702269"
"0000319560"	"0000702270"
"0000319561"	"0000702271"
"0000319562"	"0000702272"
"0000319563"	"0000702273"
"0000319564"	"0000702274"
"0000319565"	"0000702275"
"0000319566"	"0000702276"
"0000319567"	"0000702277"
"0000319568"	"0000702278"
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