### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = COL5A1)
# 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}}"
"COL5A1"	"collagen type V alpha 1 chain"	"9"	"q34.3"	"unknown"	"NG_008030.1"	"UD_132118771527"	""	"https://www.LOVD.nl/COL5A1"	"GeneTests <http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL5A1>"	"1"	"2209"	"1289"	"120215"	"1"	"1"	"1"	"1"	"Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"http://databases.lovd.nl/shared/refseq/COL5A1_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=\"SelectGeneCOL5A1\" method=\"get\" style=\"margin : 0px;\" onsubmit=\"document.location.href=(document.location.href.replace(\'COL5A1\', $(this).children(\'select\').val())); return false;\">\r\n<select name=\"select_db\" onchange=\"$(this).parent().submit();\">\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\"> COL3A1 (collagen type III alpha 1 chain)</option>\r\n<option value=\"COL5A1\" selected> 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"	"2009-10-06 00:00:00"	"00085"	"2024-02-13 14:20:49"	"00000"	"2025-11-01 13:22:20"


## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00024134"	"COL5A1"	"transcript variant 1"	"001"	"NM_000093.4"	""	"NP_000084.3"	""	""	""	"-383"	"8057"	"5517"	"137533651"	"137736689"	"00006"	"2016-05-19 16:51:11"	""	""
"00025528"	"COL5A1"	"transcript variant 2"	"002"	"NM_001278074.1"	""	"NP_001265003.1"	""	""	""	"-383"	"8057"	"5517"	"137533651"	"137736689"	"00001"	"2020-06-19 19:27:38"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 17
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00152"	"CHD"	"heart disease, congenital (CHD)"	""	""	""	""	""	"00008"	"2013-06-19 09:27:11"	"00006"	"2015-01-23 22:14:45"
"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"
"00344"	"EE"	"encephalopathy, epileptic (EE)"	""	""	""	""	""	"00006"	"2014-03-12 21:57:45"	"00006"	"2015-12-07 07:11:25"
"00409"	"UL"	"leiomyoma, uterine (UL)"	""	"150699"	""	""	""	"00006"	"2014-06-08 10:22:37"	"00006"	"2015-11-16 08:14:00"
"01029"	"KTCN"	"keratoconus (KTCN)"	""	""	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2019-02-14 12:41:56"
"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"
"02087"	"SIDS"	"death, sudden, syndrome, infant (SIDS)"	"AR"	"272120"	""	""	""	"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"
"04224"	"STL"	"Stickler syndrome (STL)"	""	""	""	""	""	"00006"	"2015-03-13 12:21:54"	""	""
"05568"	"KCTN1"	"keratoconus, type 1 (KTCN-1)"	"AD"	"148300"	""	""	""	"00006"	"2019-02-14 12:42:52"	"00006"	"2021-12-10 21:51:32"
"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"
"05817"	"EDSCL2"	"Ehlers-Danlos, classic syndrome, type 2 (EDSCL2 EDS2)"	"AD"	"130010"	""	""	""	"03701"	"2020-08-24 11:20:25"	"00006"	"2021-12-10 21:51:32"
"06174"	"EDSPD2"	"Ehlers-Danlos syndrome, periodontal type, 2"	"AD"	"617174"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"COL5A1"	"00169"
"COL5A1"	"05784"


## Individuals ## Do not remove or alter this header ##
## Count = 406
"{{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}}"
"00064761"	""	""	""	"1"	""	"01602"	"{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}"	""	"M"	"?"	"Switzerland"	"00y04m"	"0"	""	""	"Europe"	"SIDS005"
"00104015"	""	""	""	"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-520A"
"00132808"	""	""	""	"18"	""	"00006"	"{PMID:Burrows 1998:9683580}"	"5-generation family, 18 affecteds (7F, 11M)"	"F;M"	"no"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"09683580-FamMK"
"00132809"	""	""	""	"14"	""	"00006"	"{PMID:Burrows 1998:9683580}"	"5-generation family, affecteds (6F, 8M)"	"F;M"	"no"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"09683580-FamCH"
"00181164"	""	""	""	"1"	""	"02552"	""	""	"F"	""	""	""	"0"	""	""	""	"59248"
"00276001"	""	""	""	"1"	""	"03559"	"{PMID:Errichiello 2021:33189937}"	"2-generation family, 1 affected (M), unaffected heterozygous carrier parents/relatives"	"M"	"no"	"Italy"	"22y"	"0"	"yes"	""	"white"	"patient"
"00276020"	""	""	""	"1"	""	"01164"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00294797"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00294798"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00294799"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00294800"	""	""	""	"77"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00294801"	""	""	""	"6"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00294802"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295542"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00305237"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00306169"	""	""	""	"1"	""	"03731"	"{PMID:Chesneau 2021:33414558}, {DOI:Chesneau 2021:10.1038/s41431-020-00797-3}"	"2-generation family, affected father (mosaic)/son"	"M"	"no"	"France"	""	"0"	""	""	"African"	"MF0519-M1089"
"00319546"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"Brother of affected individual AN_002536 and son of affected individual AN_002537."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319547"	""	""	""	"1"	""	"00085"	""	""	""	""	""	""	"0"	""	""	""	""
"00319548"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2009:18972565}"	""	""	""	""	""	"0"	""	""	"white"	""
"00319549"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2009:18972565}"	""	""	""	""	""	"0"	""	""	"white"	""
"00319550"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319551"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319552"	""	""	""	"1"	""	"03717"	"{PMID:Junkiert-Czarnecka et al., 2019:30858776}"	"The patient\'s father harbours the same two sequence variants and has the same clinical picture. This is suggestive, but not conclusive, evidence that the EDS I phenotype is the result of the variants."	""	""	""	""	"0"	""	""	"white"	""
"00319553"	""	""	""	"1"	""	"00085"	"{PMID:Leinøe et al., 2017:28748566}"	"The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	"Patient 54"
"00319554"	""	""	""	"1"	""	"00085"	"{PMID:Modi et al., 2017:28346524}"	"This patient was born from a pregnancy complicated by preterm premature rupture of membranes (PPROM). The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	""
"00319555"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319556"	""	""	""	"1"	""	"00085"	"{PMID:Mao et al., 2017:28714197}"	"The patient\'s father also carried the c.265C>T variant. The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	"III-1"
"00319557"	""	""	""	"1"	""	"00085"	"{PMID:Wenstrup et al., 2000:10777716}"	"The variant results in the skipping of exon 2."	""	""	""	""	"0"	""	""	""	""
"00319558"	""	""	""	"1"	""	"03705"	""	"Father of affected individual AN_002576."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319559"	""	""	""	"1"	""	"00085"	""	""	""	""	""	""	"0"	""	""	""	""
"00319560"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319561"	""	""	""	"1"	""	"00085"	"{PMID:Savasta et al., 2015:26110114}"	"The proband presented with unilateral periventricular heterotopia and epilepsy.Details of the COL5A1 variant are not presented in the paper but were provided post-publication by the authors."	""	""	""	""	"0"	""	""	""	""
"00319562"	""	""	""	"1"	""	"03717"	"{PMID:Junkiert-Czarnecka et al., 2019:30858776}"	""	""	""	""	""	"0"	""	""	""	""
"00319563"	""	""	""	"1"	""	"00085"	"{PMID:Schubert 2016:26854089}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat7"
"00319564"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319565"	""	""	""	"1"	""	"00085"	"{PMID:Morais et al., 2013:24001420}"	"The variant is said to segregate with the EDS phenotype in the proband and in two earlier generations. However, the description of the proband\'s parents as healthy appears contradictory."	""	""	""	""	"0"	""	""	""	""
"00319566"	""	""	""	"1"	""	"03705"	""	"Father of affected individual AN_006202, brother of affected individual AN_006203 and son of affected individual AN_006204.The technique used was the custom NGS Gene panel."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319567"	""	""	""	"1"	""	"01819"	"{PMID:Malfait et al., 2005:15580559}"	"The variant in this patient is incorrectly described as leading to p.R155fsX24."	""	""	""	""	"0"	""	""	""	""
"00319568"	""	""	""	"1"	""	"01819"	"{PMID:Malfait et al., 2005:15580559}"	"The c.1588G>A variant is recorded in {dbSNP61735045} and in other variant databases at a frequency suggesting that it is not disease-causing.The splice site variant results in skipping of exon 3 which results in a frameshift."	""	""	""	""	"0"	""	""	""	""
"00319569"	""	""	""	"1"	""	"00085"	"{PMID:Mitchell et al., 2009:19370768}"	""	""	""	""	""	"0"	""	""	""	"P5"
"00319570"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319571"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319572"	""	""	""	"1"	""	"00085"	"{PMID:Grond-Ginsbach et al., 1999:10471441}"	"The variant was found in siblings who are also described as Family III in {PMID:Martin et al., 2006:17053184}. In that later study, the variant was also detected in 2 of 150 healthy control patients. This is strong evidence that it is not disease-causing."	""	""	""	""	"0"	""	""	""	""
"00319573"	""	""	""	"1"	""	"00085"	"{PMID:Takahara et al., 2002:12145749}"	"The major outcome of this variant is skipping of exons 5 and 6."	""	""	""	""	"0"	""	""	""	""
"00319574"	""	""	""	"1"	""	"03705"	""	"For MLPA analyses the P331-B1 and P332-B1 probemixes from MRC Holland were used. The probemixes contain one probe for each exon of the COL5A1 gene with the exception of exons 12, 26, 33, 36, 39, 49, 54, 59 and 66."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319575"	""	""	""	"1"	""	"01819"	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	""	""	"0"	""	""	""	""
"00319576"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319577"	""	""	""	"1"	""	"00085"	"{PMID:Grond-Ginsbach et al., 1999:10471441}"	"This variant was described as being at position 864 with respect to the reference sequence with accession number D90279."	""	""	""	""	"0"	""	""	""	""
"00319578"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"Patient ID 429"	""	""	""	""	"0"	""	""	"white"	""
"00319579"	""	""	""	"1"	""	"00085"	"{PMID:Omoyinmi et al., 2017:28750028}"	"This patient was diagnosed with livedo racemosa. The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	"Patient 68"
"00319580"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319581"	""	""	""	"1"	""	"00085"	"{PMID:Emanuela et al., 2019:31891009}"	"The patient has a daughter who was diagnosed for EDS hypermobility type. The patient is also diagnosed with hEDS due to flower-like collagen fibers, variable collagen fiber diameters, irregular interfiber spacing, and relatives diagnosed with hEDS/"	""	""	""	""	"0"	""	""	""	""
"00319582"	""	""	""	"1"	""	"03711"	""	"This patient has a diagnosis of Marfan syndrome (FBN1 positive), but on initial clinical evaluation was atypical for Marfan syndrome, initially classified as Other HDCT (phenotype largely outside EDS spectrum): Ghent systemic score =1,  short stature, ectopia lentis, aortic enlargement, Mitral valve prolapse, family history of sudden death. [original ID: 66]"	""	""	""	""	"0"	""	""	"white"	""
"00319583"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"Patient ID 627."	""	""	""	""	"0"	""	""	"white"	""
"00319584"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2011:21611149}"	"The patient\'s phenotype is described as a severe form of EDS with severe kyphoscoliosis and eye involvement. The sequence variant adjacent to exon 7 also affects splicing of exon 6. mRNA analysis reveals skipping of exon 6 alone and of exons 6 and 7 together."	""	""	""	""	"0"	""	""	""	""
"00319585"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	"mRNA analysis reveals skipping of exon 6 alone and of exons 6 and 7 together."	""	""	""	""	"0"	""	""	""	""
"00319586"	""	""	""	"1"	""	"03717"	"{PMID:Junkiert-Czarnecka et al., 2019:30858776}"	""	""	""	""	""	"0"	""	""	"white"	""
"00319587"	""	""	""	"1"	""	"00085"	"{PMID:Wardeh et al., 2018:30455932}"	"The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	"Afro-Caribbean"	""
"00319588"	""	""	""	"1"	""	"00085"	"{PMID:Omoyinmi et al., 2017:28750028}"	"The patient was diagnosed with idiopathic alveolar hypoplasia and pulmonary hypertension. The technique used was the custom NGS Gene panel."	""	""	"India"	""	"0"	""	""	"Indian"	"Patient 70"
"00319589"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319590"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319591"	""	""	""	"1"	""	"00085"	""	""	""	""	""	""	"0"	""	""	""	""
"00319592"	""	""	""	"1"	""	"03717"	"{PMID:Junkiert-Czarnecka et al., 2019:30858776}"	""	""	""	""	""	"0"	""	""	"white"	""
"00319593"	""	""	""	"1"	""	"03717"	"{PMID:Junkiert-Czarnecka et al., 2019:30858776}"	""	""	""	""	""	"0"	""	""	"white"	""
"00319594"	""	""	""	"1"	""	"00085"	"{PMID:Grond-Ginsbach et al., 1999:10471441}"	"This variant was described as being at position 1218 with respect to the reference sequence with accession number D90279."	""	""	""	""	"0"	""	""	""	""
"00319595"	""	""	""	"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 9"
"00319596"	""	""	""	"1"	""	"00085"	""	""	""	""	""	""	"0"	""	""	""	""
"00319597"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"Father of affected individuals AN_002504 and AN_002505.The splice site variant is predicted, in silico, to result in activation of a cryptic site 4 bases downstream with the effective loss of the first 4 bases of exon 8 and a frameshift as a consequence. This prediction has not been tested in vitro."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319598"	""	""	""	"1"	""	"03717"	""	""	""	""	""	""	"0"	""	""	""	""
"00319599"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319600"	""	""	""	"1"	""	"03706"	""	""	""	""	""	""	"0"	""	""	""	""
"00319601"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319602"	""	""	""	"1"	""	"00085"	""	""	""	""	""	""	"0"	""	""	""	""
"00319603"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	"This patient was previously described as mutation-negative in the study of {PMID:Malfait et al., 2005:15580559}."	""	""	""	""	"0"	""	""	""	""
"00319604"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319605"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319606"	""	""	""	"1"	""	"00085"	""	""	""	""	""	""	"0"	""	""	""	""
"00319607"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319608"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319609"	""	""	""	"1"	""	"00085"	"{PMID:Yasuda et al., 2013:23891251}"	"The patient presented with a ruptured superior mesenteric artery."	""	""	""	""	"0"	""	""	""	""
"00319610"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319611"	""	""	""	"1"	""	"00085"	""	""	""	""	""	""	"0"	""	""	""	""
"00319612"	""	""	""	"1"	""	"01819"	"{PMID:Malfait et al., 2005:15580559}"	"This variant is recorded in {dbSNP61735045} and in other variant databases at a frequency suggesting that it is not disease-causing."	""	""	""	""	"0"	""	""	""	""
"00319613"	""	""	""	"1"	""	"01819"	"{PMID:Malfait et al., 2005:15580559}"	"The duplication variant in this patient is incorrectly described as an insertion (c.3450_3451insT) and the resulting frameshift is also incorrectly described as p.P1151fsX47. The c.1588G>A variant is recorded in {dbSNP61735045} and in other variant databases at a frequency suggesting that it is not disease-causing."	""	""	""	""	"0"	""	""	""	""
"00319614"	""	""	""	"1"	""	"01819"	"{PMID:Malfait et al., 2005:15580559}"	"The c.1588G>A variant is recorded in {dbSNP61735045} and in other variant databases at a frequency suggesting that it is not disease-causing."	""	""	""	""	"0"	""	""	""	""
"00319615"	""	""	""	"1"	""	"00085"	"{PMID:Giunta et al., 2000:10602121}"	"The patient\'s mother and daughter, both of whom are unaffected, each harbour the p.Gly530Ser variant, suggesting that the variant is not disease-causing. However, the variant may modify the disease phenotype.The c.1588G>A (p.Gly530Ser) variant is recorded in {dbSNP61735045}The technique used was ribonuclease T1 analysis (RNaseT1). The technique used was ribonuclease A analysis (RNaseA)."	""	""	""	""	"0"	""	""	""	""
"00319616"	""	""	""	"1"	""	"00085"	"{PMID:Giunta et al., 2002:11992482}"	"In a previous article by the same authors ({PMID:Giunta et al., 2000:10602121}), the p.Gly530Ser variant was described as disease-modifying in the heterozygous state. In this study, in which the parents were first cousins, the authors suggest that the homozygous state is disease causing. However, the c.1588G>A variant is recorded in {dbSNP61735045} and in other variant databases at a frequency suggesting that it is not disease-causing."	""	""	"Turkey"	""	"0"	""	""	"Turkish"	""
"00319617"	""	""	""	"1"	""	"00085"	"{PMID:Kiss et al., 2018:29725758}"	"The patient\'s daughter carries the same variant, which co-segregated with her similar cEDS phenotype. There is contradictory data on the causality of this variant. It is found in 5% of both cEDS patients and healthy controls. The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	"Patient 1"
"00319618"	""	""	""	"1"	""	"00085"	"{PMID:Barbato et al., 2018:29705498}"	"Index patient (16F) and her family were affected by maxillary canine anomalies, including agenesis, impaction and ectopic eruption. The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	"III:6"
"00319619"	""	""	""	"1"	""	"00085"	"{PMID:Viglio et al., 2008:18305566}"	""	""	""	""	""	"0"	""	""	""	"P-32"
"00319620"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319621"	""	""	""	"1"	""	"00085"	"{PMID:Mitchell et al., 2009:19370768}"	""	""	""	""	""	"0"	""	""	""	"P6"
"00319622"	""	""	""	"1"	""	"03717"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00319623"	""	""	""	"1"	""	"00085"	"{PMID:Schwarze et al., 2000:10796876}"	"This variant results in the skipping of exon 15."	""	""	""	""	"0"	""	""	""	"P16"
"00319624"	""	""	""	"1"	""	"00085"	"{PMID:Bouma et al., 2001:11278977}"	"The variant is incorrectly described in the review by {PMID:Malfait and De Paepe, 2005:16278879} as c.1570-2A>G."	""	""	""	""	"0"	""	""	""	"III-3"
"00319625"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"Patient ID 1129.The variant in this patient was incorrectly reported as p.Leu557fsX"	""	""	""	""	"0"	""	""	"white"	""
"00319626"	""	""	""	"1"	""	"01819"	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	""	""	"0"	""	""	""	""
"00319627"	""	""	""	"1"	""	"01819"	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	""	""	"0"	""	""	""	""
"00319628"	""	""	""	"1"	""	"01819"	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	""	""	"0"	""	""	""	""
"00319629"	""	""	""	"1"	""	"00085"	"{PMID:Grelet et al., 2019:31829210}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	"Patient 9"
"00319630"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319631"	""	""	""	"1"	""	"03706"	""	""	""	""	""	""	"0"	""	""	""	""
"00319632"	""	""	""	"1"	""	"00085"	"{PMID:Mitchell et al., 2009:19370768}"	""	""	""	""	""	"0"	""	""	""	"P9"
"00319633"	""	""	""	"1"	""	"03705"	""	""	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319634"	""	""	""	"1"	""	"03717"	""	""	""	""	""	""	"0"	""	""	""	""
"00319635"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319636"	""	""	""	"1"	""	"00085"	""	""	""	""	""	""	"0"	""	""	""	""
"00319637"	""	""	""	"1"	""	"03706"	""	""	""	""	""	""	"0"	""	""	""	""
"00319638"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"Clinically, Classical EDS with multiple cauliflower fibres on EM and reduced collagen V on collagen biochemistry (SDS-PAGE).Patient ID 582."	""	""	""	""	"0"	""	""	"white"	""
"00319639"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"skin hyperextensibility, slow wound healing, formation of atrophic scars and keloidPatient ID 31."	""	""	""	""	"0"	""	""	"Afro-caribbean"	""
"00319640"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319641"	""	""	""	"1"	""	"00085"	"{PMID:Mehta et al., 2012:23997563}"	"The patient is described as having a dissected iliac artery & iatrogenic dissection of the contralateral artery.The variant was also detected in the proband\'s daughter. It is a nonsense variant and not a frameshift as described in the paper."	""	""	""	""	"0"	""	""	"white"	""
"00319642"	""	""	""	"1"	""	"00085"	"{PMID:Fokstuen et al., 2016:27353043}"	"Given that the variant is in COL5A1, this is probably a case of classical EDS. The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	""
"00319643"	""	""	""	"1"	""	"00085"	"{PMID:Renner et al., 2019:30675029}"	"Variant was described as a \'variant of unknown significance\'. The patient also has another VUS in the DCHS1 gene c.8612G>TThe technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	"Patient 15"
"00319644"	""	""	""	"1"	""	"00085"	"{PMID:Wenstrup et al., 2000:10777716}"	"The variant is incorrectly described with respect to the reference sequence with accession number M76729."	""	""	""	""	"0"	""	""	""	""
"00319645"	""	""	""	"1"	""	"00085"	"{PMID:Grelet et al., 2019:31829210}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	"Patient 14"
"00319646"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319647"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	"mRNA analysis confirms skipping of exon 28. The protein-level variant description is incorrectly reported as p.(Gly796_Lys810del).This patient was previously described as mutation-negative in the study of {PMID:Malfait et al., 2005:15580559}."	""	""	""	""	"0"	""	""	""	""
"00319648"	""	""	""	"1"	""	"00085"	"{PMID:Mitchell et al., 2009:19370768}"	""	""	""	""	""	"0"	""	""	""	"P10"
"00319649"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319650"	""	""	""	"1"	""	"00085"	"{PMID:Wenstrup et al., 2000:10777716}"	"The variant results in retention of 178 bases of intron 28 which contains a stop codon, terminating translation."	""	""	""	""	"0"	""	""	""	""
"00319651"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"Daughter of affected individual AN_002508."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319652"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case (de novo mutation verified).The technique used was the custom NGS Gene panel."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319653"	""	""	""	"1"	""	"03711"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00319654"	""	""	""	"1"	""	"00085"	"{PMID:Weerakkody et al., 2018:29543232}"	"The technique used was the custom exome panel."	""	""	""	""	"0"	""	""	""	""
"00319655"	""	""	""	"1"	""	"00085"	""	"This variant, which is predicted to be disease-causing, appears in dbSNP but has not been reported in any any patient."	""	""	""	""	"0"	""	""	""	""
"00319656"	""	""	""	"1"	""	"03706"	""	""	""	""	""	""	"0"	""	""	""	""
"00319657"	""	""	""	"1"	""	"03717"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00319658"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"This is a sporadic case (de novo mutation verified).The splice site variant is predicted, in silico, to result in activation of a cryptic site 11 bases upstream with the retention of the last 11 bases of intron 31 and a frameshift as a consequence. This prediction has not been tested in vitro."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319659"	""	""	""	"1"	""	"00085"	"{PMID:Viglio et al., 2008:18305566}"	""	""	""	""	""	"0"	""	""	""	"P-24"
"00319660"	""	""	""	"1"	""	"01819"	"{PMID:Malfait et al., 2005:15580559}"	"The authors report activation of a cryptic splice donor site 193 bases downstream of the wild type donor, with a PTC 29 codons upstream of new donor."	""	""	""	""	"0"	""	""	""	""
"00319661"	""	""	""	"1"	""	"00085"	"{PMID:Kratzsch et al., 2018:29578302}"	"The index patient, his father, and grandmother all carried the variant."	""	""	""	""	"0"	""	""	""	""
"00319662"	""	""	""	"1"	""	"00085"	""	""	""	""	""	""	"0"	""	""	""	""
"00319663"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"This is a sporadic case (de novo mutation verified).The authors\' DNA-level variant description is not HGVS nomenclature compliant."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319664"	""	""	""	"1"	""	"00085"	"{PMID:Karaa and Stoler, 2013:23762718}"	""	""	""	""	""	"0"	""	""	""	""
"00319665"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319666"	""	""	""	"1"	""	"00085"	"{PMID:Mitchell et al., 2009:19370768}"	""	""	""	""	""	"0"	""	""	""	"P11"
"00319667"	""	""	""	"1"	""	"00085"	"{PMID:Mitchell et al., 2009:19370768}"	""	""	""	""	""	"0"	""	""	""	"P12"
"00319668"	""	""	""	"1"	""	"00085"	""	"The dbSNP entry is rather muddled for this variant."	""	""	""	""	"0"	""	""	""	""
"00319669"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319670"	""	""	""	"1"	""	"00085"	"{PMID:Grond-Ginsbach et al., 1999:10471441}"	"This variant was described as being at position 3018 with respect to the reference sequence with accession number D90279."	""	""	""	""	"0"	""	""	""	""
"00319671"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	"mRNA analysis shows a frameshift resulting in a premature stop codon."	""	""	""	""	"0"	""	""	""	""
"00319672"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"Mother of affected individual AN_002513."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319673"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319674"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319675"	""	""	""	"1"	""	"03705"	""	""	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319676"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319677"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"This is a sporadic case (de novo mutation not verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319678"	""	""	""	"1"	""	"03717"	""	""	""	""	""	""	"0"	""	""	""	""
"00319679"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319680"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319681"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319682"	""	""	""	"1"	""	"01819"	"{PMID:Malfait et al., 2005:15580559}"	"The variant in this patient is incorrectly described as leading to p.T1037fsX36."	""	""	""	""	"0"	""	""	""	""
"00319683"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"Overlapping features of vascular and classical EDS:  Thin translucent skin over anterior chest wall, bruising of the shins, with moderate hyperextensibility of the skin, mild hypermobility (Beighton 3). [original patient ID 1088]"	""	""	""	""	"0"	""	""	"white"	""
"00319684"	""	""	""	"1"	""	"03705"	""	"This a sporadic case of classical EDS (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319685"	""	""	""	"1"	""	"00085"	"{PMID:Borck et al., 2010:20635400}"	"This patient had a spontaneous rupture of the left common iliac artery at the age of 42 years."	""	""	"Germany"	""	"0"	""	""	"German"	""
"00319686"	""	""	""	"1"	""	"00085"	"{PMID:Lehnen et al., 2011:21541907}"	""	""	""	""	""	"0"	""	""	""	""
"00319687"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319688"	""	""	""	"1"	""	"03711"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00319689"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	"mRNA analysis reveals skipping of exon 42. The variant presented here is the undetected variant in family 2 described by {PMID9042913:De Paepe et al., 1997}."	""	""	""	""	"0"	""	""	""	""
"00319690"	""	""	""	"1"	""	"03705"	""	""	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319691"	""	""	""	"1"	""	"01819"	"{PMID:Malfait et al., 2005:15580559}"	"The variant in this patient is incorrectly described as leading to p.1109_1121delfs ."	""	""	""	""	"0"	""	""	""	""
"00319692"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319693"	""	""	""	"1"	""	"00085"	"{PMID:Renner et al., 2019:30675029}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	"Patient 88"
"00319694"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case (de novo mutation verified).The technique used was the custom NGS Gene panel."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319695"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319696"	""	""	""	"1"	""	"03706"	""	""	""	""	""	""	"0"	""	""	""	""
"00319697"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319698"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319699"	""	""	""	"1"	""	"03705"	""	""	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319700"	""	""	""	"1"	""	"03717"	""	""	""	""	""	""	"0"	""	""	""	""
"00319701"	""	""	""	"1"	""	"03706"	""	""	""	""	""	""	"0"	""	""	""	""
"00319702"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"Mother of affected individual AN_002519."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319703"	""	""	""	"1"	""	"03705"	""	"Sister of affected individual AN_002549 and daughter of affected individual AN_002550."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319704"	""	""	""	"1"	""	"03717"	"{PMID:Junkiert-Czarnecka et al., 2019:30858776}"	""	""	""	""	""	"0"	""	""	"white"	""
"00319705"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319706"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"Sister of affected individual AN_002521, daugther of affected individual AN_002522 and nephew of affected individual AN_002523."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319707"	""	""	""	"1"	""	"00085"	"{PMID:Renner et al., 2019:30675029}"	"The variant is described as a \'variant of unknown significance\'. The patient also has a positive family history for intercranial aneurysms. The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	"Patient 57"
"00319708"	""	""	""	"1"	""	"00085"	"{PMID:Mitchell et al., 2009:19370768}"	"The variant in this patient was incorrectly described as c.3680_3681insT"	""	""	""	""	"0"	""	""	""	"P7"
"00319709"	""	""	""	"1"	""	"00085"	"{PMID:Wenstrup et al., 2000:10777716}"	"The variant is incorrectly described by Wenstrup et al. with respect to the reference sequence with accession number M76729.This patient is described as proband A-II-I in {PMID:Segev et al., 2006:16431952}."	""	""	""	""	"0"	""	""	""	""
"00319710"	""	""	""	"1"	""	"00085"	""	"The dbSNP entry is rather muddled for this variant. In addition, a single base deletion would be expected to be pathogenic."	""	""	""	""	"0"	""	""	""	""
"00319711"	""	""	""	"1"	""	"00085"	"{PMID:Schwarze et al., 2000:10796876}"	""	""	""	""	""	"0"	""	""	""	"P1"
"00319712"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	"This patient was previously described as mutation-negative in the study of {PMID:Malfait et al., 2005:15580559}."	""	""	""	""	"0"	""	""	""	""
"00319713"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	"This patient was previously described as mutation-negative in the study of {PMID:Malfait et al., 2005:15580559}."	""	""	""	""	"0"	""	""	""	""
"00319714"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319715"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319716"	""	""	""	"1"	""	"03705"	""	"Mother of affected individual AN_002570,  sister of affected individual AN_002571, and daughter of affected individual AN_002571."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319717"	""	""	""	"1"	""	"00085"	"{PMID:Ziganshin et al., 2015:26188975}"	"The variant is incorrectly reported as being in intron 49.The patient has an ascending and descending aortic aneurysm.The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	"Patient 1"
"00319718"	""	""	""	"1"	""	"00085"	"{PMID:Mitchell et al., 2009:19370768}"	"The variant creates a cryptic splice donor site resulting in the deletion of 35 bp of some of the mRNA and a frameshift which triggers NMD. Full-length and deleted mRNA are detected in the nucleus and full-length only in the cytoplasm."	""	""	""	""	"0"	""	""	""	"P1"
"00319719"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	"Although the detected variant predicts a missense mutation, mRNA analysis shows a frameshift resulting in a premature stop codon: p.(Glu1292Thrfs*29)."	""	""	""	""	"0"	""	""	""	""
"00319720"	""	""	""	"1"	""	"00085"	"{PMID:Schwarze et al., 2000:10796876}"	""	""	""	""	""	"0"	""	""	""	"P10"
"00319721"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case of classic EDS (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319722"	""	""	""	"1"	""	"00085"	"{PMID:Schwarze et al., 2000:10796876}"	"The variant was described as an insertion, rather than a duplication."	""	""	""	""	"0"	""	""	""	"P11"
"00319723"	""	""	""	"1"	""	"00085"	"{PMID:Nicholls et al., 1996:8950675}"	"The variant results in skipping of exon 49.The variant is incorrectly described in the review article by {PMID:Malfait and De Paepe, 2005:16278879} as c.3852+3G>T."	""	""	""	""	"0"	""	""	""	"P1"
"00319724"	""	""	""	"1"	""	"00085"	"{PMID:Schwarze et al., 2000:10796876}"	""	""	""	""	""	"0"	""	""	""	"P8"
"00319725"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	"Although the detected variant is consistent with exon skipping, mRNA analysis shows a frameshift resulting in a premature stop codon."	""	""	""	""	"0"	""	""	""	""
"00319726"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case (de novo mutation verified).The technique used was the custom NGS Gene panel."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319727"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	"This patient was previously described as mutation-negative in the study of {PMID:Malfait et al., 2005:15580559}."	""	""	""	""	"0"	""	""	""	""
"00319728"	""	""	""	"1"	""	"00085"	""	"The dbSNP entry is rather muddled for this variant."	""	""	""	""	"0"	""	""	""	""
"00319729"	""	""	""	"1"	""	"03705"	"{PMID:Colombi et al., 2018:29024828}"	"Daughter of affected individual AN_002541.Although RNA has not been analysed, the variant is predicted to cause exon skipping."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319730"	""	""	""	"1"	""	"03711"	""	"Although RNA has not been analysed, the variant is predicted to cause exon skipping."	""	""	""	""	"0"	""	""	"white"	""
"00319731"	""	""	""	"1"	""	"03715"	"{PMID:Angwin et al., 2019:31569816}"	"Although RNA has not been analysed, the variant is predicted to cause exon skipping."	""	""	""	""	"0"	""	""	""	""
"00319732"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	"Although the variant is predicted to be silent, mRNA analysis demonstrates skipping of exon 51."	""	""	""	""	"0"	""	""	""	""
"00319733"	""	""	""	"1"	""	"00085"	"{PMID:Wenstrup et al., 2000:10777716}"	"The variant is incorrectly described by Wenstrup et al. as an insertion, rather than a duplication, with respect to the reference sequence with accession number M76729."	""	""	""	""	"0"	""	""	""	""
"00319734"	""	""	""	"1"	""	"00085"	""	""	""	""	""	""	"0"	""	""	""	""
"00319735"	""	""	""	"1"	""	"01819"	"{PMID:Malfait et al., 2005:15580559}"	"The authors report activation of a cryptic splice acceptor site 1 base dowstream of the wild type acceptor, with a PTC 19 codons downstream of the new acceptor."	""	""	""	""	"0"	""	""	""	""
"00319736"	""	""	""	"1"	""	"00085"	""	"The dbSNP entry is rather muddled for this variant."	""	""	""	""	"0"	""	""	""	""
"00319737"	""	""	""	"1"	""	"00085"	"{PMID:Omoyinmi et al., 2017:28750028}"	"The patient is given a probable diagnosis of catastrophic antiphospholipid syndrome. The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	"Patient 61"
"00319738"	""	""	""	"1"	""	"00085"	"{PMID:Modi et al., 2017:28346524}"	"This patient was born from a pregnancy complicated with preterm premature rupture of membranes (PPROM). The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	""
"00319739"	""	""	""	"1"	""	"00085"	"{PMID:Schwarze et al., 2000:10796876}"	""	""	""	""	""	"0"	""	""	""	"P6"
"00319740"	""	""	""	"1"	""	"00085"	""	""	""	""	""	""	"0"	""	""	""	""
"00319741"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319742"	""	""	""	"1"	""	"00085"	"{PMID:Schwarze et al., 2000:10796876}"	"The variant in this patient was incorrectly described as an insertion, rather than a duplication."	""	""	""	""	"0"	""	""	""	"P4"
"00319743"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319744"	""	""	""	"1"	""	"01819"	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	""	""	"0"	""	""	""	""
"00319745"	""	""	""	"1"	""	"03717"	""	""	""	""	""	""	"0"	""	""	""	""
"00319746"	""	""	""	"1"	""	"01819"	"{PMID:Malfait et al., 2005:15580559}"	"The published description of the variant at the protein level is incomplete."	""	""	""	""	"0"	""	""	""	""
"00319747"	""	""	""	"1"	""	"00085"	"{PMID:Mátyás et al., 2002:11754104}"	"The reference sequence which was used in this article for COL5A1 was M76729."	""	""	""	""	"0"	""	""	""	""
"00319748"	""	""	""	"1"	""	"01819"	"{PMID:Malfait et al., 2005:15580559}"	"The authors report that this variant creates a new splice acceptor with a frameshift and PTC at codon 1488."	""	""	""	""	"0"	""	""	""	""
"00319749"	""	""	""	"1"	""	"01819"	"{PMID:Pallotta et al., 2004:15264295}"	"Analysis of cDNA indicates that the effect of this variant is equivalent to deletion of the first base of exon 56 so the consequence is a null allele resulting from a frameshift."	""	""	""	""	"0"	""	""	""	"Patient 1"
"00319750"	""	""	""	"1"	""	"03705"	""	"This is a classical EDS patient, daugther of affected individual AN_002556."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319751"	""	""	""	"1"	""	"01819"	"{PMID:Malfait et al., 2005:15580559}"	"The variant in this patient is incorrectly described as leading to p.P1461fsX27 ."	""	""	""	""	"0"	""	""	""	""
"00319752"	""	""	""	"1"	""	"00085"	""	"The dbSNP entry is rather muddled for this variant."	""	""	""	""	"0"	""	""	""	""
"00319753"	""	""	""	"1"	""	"00085"	"{PMID:Angwin et al., 2019:31569816}"	"Relatives were healthy with no features of cEDS, one brother tested for the COL5A1 variant tested negative."	""	""	""	""	"0"	""	""	""	"Patient 1"
"00319754"	""	""	""	"1"	""	"03705"	""	""	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319755"	""	""	""	"1"	""	"01819"	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	""	""	"0"	""	""	""	""
"00319756"	""	""	""	"1"	""	"00085"	"{PMID:Mitchell et al., 2009:19370768}"	""	""	""	""	""	"0"	""	""	""	"P2"
"00319757"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case (de novo mutation verified)."	""	""	""	""	"0"	""	""	"African"	""
"00319758"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319759"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319760"	""	""	""	"1"	""	"00085"	"{PMID:Grond-Ginsbach et al., 1999:10471441}"	"This variant is recorded in {dbSNP3811146} but the entry is rather muddled.This variant was described as being at position 4608 with respect to the reference sequence with accession number D90279."	""	""	""	""	"0"	""	""	""	""
"00319761"	""	""	""	"1"	""	"00085"	"{PMID:Grond-Ginsbach et al., 1999:10471441}"	"This variant is recorded in {dbSNP3811146} but the entry is rather muddled.This variant was described as being at position 4608 with respect to the reference sequence with accession number D90279."	""	""	""	""	"0"	""	""	""	""
"00319762"	""	""	""	"1"	""	"03717"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00319763"	""	""	""	"1"	""	"03705"	""	"This is a sporadic case (de novo mutation verified).The technique used was the custom NGS Gene panel."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319764"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319765"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"hypermobility, Skin tearing and fragility, skin extensibilityPatient ID 581"	""	""	""	""	"0"	""	""	"white"	""
"00319766"	""	""	""	"1"	""	"00085"	""	""	""	""	""	""	"0"	""	""	""	""
"00319767"	""	""	""	"1"	""	"03711"	"{PMID:Weerakkody et al., 2016:27011056}"	"Original study ID 824."	""	""	""	""	"0"	""	""	"white"	""
"00319768"	""	""	""	"1"	""	"01563"	"{PMID:Monroe et al., 2015:25845371}"	"Brother (AN_004202) was also tested and carries the variant. Suspect that the variant arose de novo in deceased mother (AN_004201, no material available). Variant results in vascular phenotype."	""	""	"Netherlands"	""	"0"	""	""	"Dutch"	""
"00319769"	""	""	""	"1"	""	"03705"	""	"Daughter of affected individual AN_002566."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319770"	""	""	""	"1"	""	"01819"	"{PMID:de Leeuw et al. 2012:22302579}"	"The patient died of complications arising from rupture of a mesenteric artery aneurysm."	""	""	""	""	"0"	""	""	""	""
"00319771"	""	""	""	"1"	""	"00085"	""	""	""	""	""	""	"0"	""	""	""	""
"00319772"	""	""	""	"1"	""	"00085"	"{PMID:Segev et al., 2006:16431952}"	"This variant also causes abnormalities of the cornea and eye lid."	""	""	""	""	"0"	""	""	""	""
"00319773"	""	""	""	"1"	""	"01819"	"{PMID:Nielsen et al., 2014:25122555}"	""	""	""	""	""	"0"	""	""	""	""
"00319774"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"This is a sporadic case (de novo mutation verified)."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319775"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319776"	""	""	""	"1"	""	"03705"	""	""	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319777"	""	""	""	"1"	""	"03717"	""	""	""	""	""	""	"0"	""	""	""	""
"00319778"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319779"	""	""	""	"1"	""	"00085"	"{PMID:De Paepe et al., 1997:9042913}"	"The variant is incorrectly described as cysteine to serine at position 1181."	""	""	""	""	"0"	""	""	""	"III-2"
"00319780"	""	""	""	"1"	""	"00085"	"{PMID:Mitchell et al., 2009:19370768}"	""	""	""	""	""	"0"	""	""	""	"P8"
"00319781"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"Twin of affected individual AN_002529."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319782"	""	""	""	"1"	""	"03705"	""	"This splicing mutation leads to haploinsufficiency, demonstrated by positive COL5A1 null allele test performed on patient\'s cultured skin fibroblasts."	""	""	""	""	"0"	""	""	""	""
"00319783"	""	""	""	"1"	""	"01819"	"{PMID:Nielsen et al., 2014:25122555}"	""	""	""	""	""	"0"	""	""	""	""
"00319784"	""	""	""	"1"	""	"01819"	"{PMID:Nielsen et al., 2014:25122555}"	""	""	""	""	""	"0"	""	""	""	""
"00319785"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"Mother of affected individual AN_002531."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319786"	""	""	""	"1"	""	"03717"	""	""	""	""	""	""	"0"	""	""	""	""
"00319787"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319788"	""	""	""	"1"	""	"03705"	""	"For MLPA analyses the P331-B1 and P332-B1 probemixes from MRC Holland were used. The probemixes contain one probe for each exon of the COL5A1 gene with the exception of exons 12, 26, 33, 36, 39, 49, 54, 59 and 66."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319789"	""	""	""	"1"	""	"00085"	""	""	""	""	""	""	"0"	""	""	""	""
"00319790"	""	""	""	"1"	""	"00085"	""	""	""	""	""	""	"0"	""	""	""	""
"00319791"	""	""	""	"1"	""	"00085"	""	""	""	""	""	""	"0"	""	""	""	""
"00319792"	""	""	""	"1"	""	"00085"	""	""	""	""	""	""	"0"	""	""	""	""
"00319793"	""	""	""	"1"	""	"00085"	"{PMID:De Paepe et al., 1997:9042913}"	""	""	""	""	""	"0"	""	""	""	"Family 3"
"00319794"	""	""	""	"1"	""	"00085"	""	""	""	""	""	""	"0"	""	""	""	""
"00319795"	""	""	""	"1"	""	"00085"	""	"A single base deletion would be expected to be pathogenic."	""	""	""	""	"0"	""	""	""	""
"00319796"	""	""	""	"1"	""	"00085"	""	"The dbSNP entry is rather muddled for this variant"	""	""	""	""	"0"	""	""	""	""
"00319797"	""	""	""	"1"	""	"00085"	""	""	""	""	""	""	"0"	""	""	""	""
"00319798"	""	""	""	"1"	""	"00085"	"{PMID:Traenka et al., 2019:31903434}"	"The authors described the variant as a \'variant of unknown significance\'.The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	"Patient 27"
"00319799"	""	""	""	"1"	""	"00085"	"{PMID:Modi et al., 2017:28346524}"	"This patient was born from a pregnancy complicated with preterm premature rupture of membranes (PPROM). The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	""
"00319800"	""	""	""	"1"	""	"03705"	""	"Mother of affected individual AN_002596 and sister of affected individual AN_002597."	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00319801"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319802"	""	""	""	"1"	""	"00085"	"{PMID:Seidelmann et al., 2017:28087566}"	"The patient was diagnosed with periventricular heterotopia, hyperflexibility of the major joints and familial aneurysm. The COL5A1 variant was incorrectly published as c.5674G>A, D1771N and was predicted to be benign due to the patient\'s father also carrying the variant but not displaying the variant phenotype. The patient also carried another FLNA and COL5A2 variant. The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	"Patient 6"
"00319803"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2019:31239369}"	"The patient and his mother both had a compound phenotype of OI and cEDS, and also carried an additional COL1A1 variant, c.2010delT. A younger brother that did not carry the COL5A1 variant but had the COL1A1 variant only had the clinical symptoms of OI. The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	"III-1"
"00319804"	""	""	""	"1"	""	"00085"	"{PMID:Wenstrup et al., 1996:8923000}"	"The variant resulst in skipping of exon 65."	""	""	""	""	"0"	""	""	""	"Family A"
"00319805"	""	""	""	"1"	""	"00085"	""	""	""	""	""	""	"0"	""	""	""	""
"00319806"	""	""	""	"1"	""	"03705"	"{PMID:Ritelli et al., 2013:23587214}"	"This is a sporadic case (de novo mutation verified)"	""	""	"Morocco"	""	"0"	""	""	"Moroccan"	""
"00319807"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	""	""	"0"	""	""	""	""
"00319808"	""	""	""	"1"	""	"00085"	"{PMID:Mitchell et al., 2009:19370768}"	""	""	""	""	""	"0"	""	""	""	"P3"
"00319809"	""	""	""	"1"	""	"00085"	"{PMID:Mátyás et al., 2002:11754104}"	"The reference sequence which was used in this article for COL5A1 was M76729.This variant ({dbSNP13946}) has also been described by {PMID:Mokone et al., 2006:16430677}, {PMID:September et al., 2008:18443036} and {PMID:Collins et al., 2009:19422640}. The variant lies in the 3\' UTR and is believed to not be pathogenic."	""	""	""	""	"0"	""	""	""	""
"00319810"	""	""	""	"1"	""	"00085"	"{PMID:Mokone et al., 2006:16430677}"	"This variant ({dbSNP12722}) has also been described by {PMID:September et al., 2008:18443036}, {PMID:Collins et al., 2009:19422640} and {PMID:Posthumus et al., 2009:19654427}. The variant lies in the 3\' UTR and is believed to not be pathogenic.In each publication, the reference sequence which was used for COL5A1 was M76729."	""	""	""	""	"0"	""	""	""	""
"00319811"	""	""	""	"1"	""	"00085"	"{PMID:September et al., 2008:18443036}"	"The variant ({dbSNP1134114}) lies in the 3\' UTR and is believed to not be pathogenic."	""	""	""	""	"0"	""	""	""	""
"00319812"	""	""	""	"1"	""	"00085"	"{PMID:September et al., 2008:18443036}"	"This variant ({dbSNP3196378}) has also been described by {PMID:Collins et al., 2009:19422640}. It lies in the 3\' UTR and is believed to not be pathogenic."	""	""	""	""	"0"	""	""	""	""
"00319813"	""	""	""	"1"	""	"00085"	"{PMID:September et al., 2008:18443036}"	"This variant ({dbSNP11103544}: entry is muddled) has also been described by {PMID:Collins et al., 2009:19422640}. It lies in the 3\' UTR and is believed to not be pathogenic."	""	""	""	""	"0"	""	""	""	""
"00319814"	""	""	""	"1"	""	"00085"	"{PMID:September et al., 2008:18443036}"	"This variant is recorded in {dbSNP4504708} but the entry is muddled."	""	""	""	""	"0"	""	""	""	""
"00319815"	""	""	""	"1"	""	"00085"	"{PMID:September et al., 2008:18443036}"	"This variant is recorded in {dbSNP3128575}."	""	""	""	""	"0"	""	""	""	""
"00319933"	""	""	""	"1"	""	"03701"	"{PMID:Alkuraya 2018:29250776}"	"Parents and one sibling were heterozygous carriers, lacking cEDS phenotype."	"M"	""	"Saudi Arabia"	""	"0"	""	""	"Saudi"	"Patient 1"
"00319993"	""	""	""	"1"	""	"01164"	""	""	"M"	"?"	"Germany"	""	"0"	""	""	""	"170791"
"00333503"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	"0"	""	""	""	"AN_006301"
"00333788"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006302"
"00333789"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006303"
"00333790"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006304"
"00333791"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006305"
"00333792"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006306"
"00333793"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006307"
"00333794"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006308"
"00333795"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006309"
"00333796"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006310"
"00333797"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006311"
"00333798"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006312"
"00333799"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006313"
"00333800"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006314"
"00333801"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006315"
"00333802"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006316"
"00333803"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006317"
"00333804"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006318"
"00334520"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006319"
"00334521"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006320"
"00334522"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006321"
"00334527"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006322"
"00334550"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006323"
"00334551"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006324"
"00334552"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006325"
"00334554"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006326"
"00334555"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006327"
"00334576"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006328"
"00334577"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006329"
"00334578"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006330"
"00334579"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006331"
"00334580"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006332"
"00334806"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006333"
"00334807"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006334"
"00334809"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006335"
"00334810"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006336"
"00334811"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006337"
"00334812"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006338"
"00334813"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006339"
"00334814"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006340"
"00334816"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006341"
"00334817"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006342"
"00334819"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006343"
"00334820"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006344"
"00334821"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	"AN_006345"
"00362882"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	""
"00362883"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	""
"00362884"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	""
"00362885"	""	""	""	"1"	""	"04004"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Belgium"	""	""	""	""	""	""
"00375212"	""	""	""	"1"	""	"01164"	""	""	"?"	""	""	""	"0"	""	""	""	""
"00385553"	""	""	""	"1"	""	"02544"	""	""	"F"	""	"Italy"	""	""	""	""	""	"19-1855"
"00388269"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:32246022}"	"no patient numbering"	"M"	""	"China"	""	"0"	""	""	"Chinese Han"	"2"
"00402810"	""	""	""	"1"	""	"03717"	""	""	"F"	"no"	"(Poland)"	""	"0"	""	""	""	""
"00402811"	""	""	""	"1"	""	"03717"	""	""	""	""	""	""	""	""	""	""	""
"00404934"	""	""	""	"2"	""	"02343"	"{PMID:Strang-Karlsson et al., 2022:36245460}"	"Child who inherited gross deletion from mosaic unaffected father"	"F"	"no"	"Finland"	""	"0"	""	""	""	""
"00404938"	""	""	"00404934"	"1"	""	"02343"	"{PMID:Strang-Karlsson et al., 2022:36245460}"	"unaffected"	"M"	"no"	"Finland"	""	"0"	""	""	""	""
"00411135"	""	""	""	"1"	""	"04305"	"{PMID:Yang et al., 2022:35119775}"	""	"M"	"?"	"China"	""	""	""	""	"Han"	"Family1II-1"
"00417024"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417030"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417040"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417041"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417047"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417048"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417050"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417052"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417054"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417055"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417058"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417060"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417066"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417068"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417072"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417073"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417078"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417095"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417102"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417117"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417118"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417120"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417127"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417138"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417140"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417144"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417145"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417156"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417158"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00419501"	""	""	""	"1"	""	"02300"	"{PMID:Marinakis 2021:34008892}"	""	"M"	""	"Greece"	""	"0"	""	""	""	"8075"
"00424791"	""	""	""	"2"	""	"04419"	"{PMID:Sen 2019:31061749}"	"2-generation family, affected son/father"	"M"	"no"	"United States"	""	"0"	""	""	""	"1"
"00424897"	""	""	"00424791"	"1"	""	"00006"	"{PMID:Sen and Butler, 2019:31061749}"	"father"	"M"	""	"United States"	""	"0"	""	""	""	"father"
"00426475"	""	""	""	"1"	""	"02529"	""	""	"F"	"no"	"Italy"	""	"0"	""	""	""	"patient"
"00428259"	""	""	""	"1"	""	"04446"	""	"Aortic aneurysm; \r\nfragile skin; pseudotumours;  recurrent joint dislocations; inguinal hernia repair in childhood"	"M"	"no"	"Australia"	""	""	""	""	"irish"	""
"00430291"	""	""	""	"1"	""	"04419"	"{PMID:Kuroda et al., 2018:29520887}"	""	"M"	"no"	"Japan"	""	""	""	""	""	"1"
"00431143"	""	""	""	"1"	""	"04419"	"{PMID:Chiu et al., 2020:33109150}"	""	"M"	"?"	"Taiwan"	""	"0"	""	""	""	"1"
"00431792"	""	""	""	"1"	""	"04136"	"Leone 2023, submitted"	""	""	""	"Italy"	""	"0"	""	""	""	"P-0152"
"00431793"	""	""	""	"1"	""	"04136"	"Leone 2023, submitted"	""	""	""	"Italy"	""	"0"	""	""	""	"P-0153"
"00431795"	""	""	""	"1"	""	"04136"	"Leone 2023, submitted"	""	""	""	"Italy"	""	"0"	""	""	""	"P-0155"
"00431799"	""	""	""	"1"	""	"04136"	"Leone 2023, submitted"	""	""	""	"Italy"	""	"0"	""	""	""	"P-0159"
"00431805"	""	""	""	"1"	""	"04136"	"Leone 2023, submitted"	""	""	""	"Italy"	""	"0"	""	""	""	"P-0165"
"00431817"	""	""	""	"1"	""	"04136"	"Leone 2023, submitted"	""	""	""	"Italy"	""	"0"	""	""	""	"P-0177"
"00431821"	""	""	""	"1"	""	"04136"	"Leone 2023, submitted"	""	""	""	"Italy"	""	"0"	""	""	""	"P-0182"
"00434894"	""	""	""	"1"	""	"04419"	"{PMID:Fransen et al., 2021:33737726}"	"34 candidate genes targeted from 787 independent keratoconus patients and 856 ethnically matched controls, including results from unpublished studies and literature search. 7 patients with EDS gene variants."	"?"	"no"	"Belgium"	""	""	""	""	""	"2"
"00434895"	""	""	""	"1"	""	"04419"	"{PMID:Fransen et al., 2021:33737726}"	"34 candidate genes targeted from 787 independent keratoconus patients and 856 ethnically matched controls, including results from unpublished studies and literature search. 7 patients with EDS gene variants."	"?"	"no"	"Belgium"	""	""	""	""	""	"3"
"00434897"	""	""	""	"1"	""	"04419"	"{PMID:Fransen et al., 2021:33737726}"	"34 candidate genes targeted from 787 independent keratoconus patients and 856 ethnically matched controls, including results from unpublished studies and literature search. 7 patients with EDS gene variants."	"?"	"no"	"Belgium"	""	""	""	""	""	"5"
"00434999"	""	""	""	"1"	""	"04419"	"{PMID:Fransen et al., 2021:33737726}"	"34 candidate genes targeted from 787 independent keratoconus patients and 856 ethnically matched controls, including results from unpublished studies and literature search. 7 patients with EDS gene variants."	"?"	"no"	"Belgium"	""	""	""	""	""	"6"
"00435000"	""	""	""	"1"	""	"04419"	"{PMID:Fransen et al., 2021:33737726}"	"34 candidate genes targeted from 787 independent keratoconus patients and 856 ethnically matched controls, including results from unpublished studies and literature search. 7 patients with EDS gene variants."	"?"	"no"	"Belgium"	""	""	""	""	""	"7"
"00435001"	""	""	""	"1"	""	"04419"	"{PMID:Stock et al., 2021:33498938}"	"German family with classical EDS was investigated. Physical and genetic examination of two affected and three unaffected family members revealed a family diagnosis of cEDS with a heterozygous mutation in COL5A1. An additional diagnosis of periodontal EDS was suspected and genetic analysis revealed a novel missense mutation in C1R in a heterozygous state."	"F"	"no"	"Germany"	""	""	""	""	""	"IV-2"
"00452942"	""	""	""	"1"	""	"04693"	"{PMID:Bryant 2024:38929591}"	"76 yr old with keratoconus and pectus excavatum; no cardiac or thoracic symptoms and lacked any significant cardiovascular family medical history, including coronary artery disease, aortic aneurysms, pectus excavatum, or aortic dissections. No reported skin or joint features of classic EDS."	"F"	"?"	"(United States)"	""	""	""	""	""	""
"00452943"	""	""	""	"1"	""	"04693"	"{PMID:Pujari 2024:38572164}"	"46 yrs old, hx of b/l common iliac artery dissections (separated by six years). Both repaired surgically using grafts; PMHx of secundum ASD, incisional hernia from first surgery and essential HTN. Known to have clinical diagnosis of cEDS with multiple connective tissue disease features. FHx of \'aortic repair\' in paternal aunt and cousin who were noted to have \'blue\' aortic tissue, and paternal grandfather who died of a left ventricular rupture."	"F"	"?"	"(United States)"	""	"0"	""	""	""	"patient"
"00453731"	""	""	""	"1"	""	"00006"	"{PMID:Mansoorshahi 2024:39226896}"	"analysis 215 early-onset complications bicuspid aortic valve-affected families."	""	""	"United States"	""	"0"	""	""	""	"BAV065"
"00453732"	""	""	""	"1"	""	"00006"	"{PMID:Mansoorshahi 2024:39226896}"	"analysis 215 early-onset complications bicuspid aortic valve-affected families."	""	""	"United States"	""	"0"	""	""	""	"BAV125"
"00453733"	""	""	""	"1"	""	"00006"	"{PMID:Mansoorshahi 2024:39226896}"	"analysis 215 early-onset complications bicuspid aortic valve-affected families."	""	""	"United States"	""	"0"	""	""	""	"BAV827"
"00453734"	""	""	""	"1"	""	"00006"	"{PMID:Mansoorshahi 2024:39226896}"	"analysis 215 early-onset complications bicuspid aortic valve-affected families."	""	""	"United States"	""	"0"	""	""	""	"BAV968"
"00453767"	""	""	""	"1"	""	"00006"	"{PMID:Mansoorshahi 2024:39226896}"	"analysis 215 early-onset complications bicuspid aortic valve-affected families."	""	""	"United States"	""	"0"	""	""	""	"BAV963"
"00453779"	""	""	""	"1"	""	"00006"	"{PMID:Mansoorshahi 2024:39226896}"	"analysis 215 early-onset complications bicuspid aortic valve-affected families."	""	""	"United States"	""	"0"	""	""	""	"BAV338"
"00453780"	""	""	""	"1"	""	"00006"	"{PMID:Mansoorshahi 2024:39226896}"	"analysis 215 early-onset complications bicuspid aortic valve-affected families."	""	""	"United States"	""	"0"	""	""	""	"BAV950"
"00460934"	""	""	""	"1"	""	"04796"	""	""	""	""	"Netherlands"	""	"0"	""	""	""	""
"00460975"	""	""	""	"1"	""	"04796"	""	""	""	""	"Netherlands"	""	"0"	""	""	""	""
"00466176"	""	""	""	"1"	""	"03820"	""	""	"F"	""	"Brazil"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 623
"{{individualid}}"	"{{diseaseid}}"
"00064761"	"02087"
"00104015"	"03381"
"00132808"	"00169"
"00132809"	"00169"
"00181164"	"00344"
"00276001"	"00169"
"00294797"	"00198"
"00294798"	"00198"
"00294799"	"00198"
"00294800"	"00198"
"00294801"	"00198"
"00294802"	"00198"
"00295542"	"00198"
"00305237"	"00198"
"00306169"	"00169"
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"00319546"	"05784"
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"00319568"	"05784"
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"00319580"	"00169"
"00319580"	"05784"
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"00319590"	"05784"
"00319591"	"00198"
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"00319593"	"05784"
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"00319596"	"00198"
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"00319597"	"05784"
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"00319599"	"05784"
"00319600"	"00169"
"00319600"	"05784"
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"00319601"	"05784"
"00319602"	"00198"
"00319603"	"00169"
"00319603"	"05784"
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"00319604"	"05784"
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"00319605"	"05784"
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"00319607"	"00169"
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"00319608"	"05784"
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"00319609"	"05784"
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"00319612"	"00169"
"00319612"	"05784"
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"00319613"	"05784"
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"00319615"	"05784"
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"00319625"	"00169"
"00319625"	"05784"
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"00319630"	"05784"
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"00319637"	"05784"
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"00319640"	"05784"
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"00319641"	"05784"
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"00319643"	"00198"
"00319644"	"00169"
"00319644"	"05784"
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"00319646"	"00169"
"00319646"	"05784"
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"00319647"	"05784"
"00319648"	"00169"
"00319648"	"05784"
"00319649"	"00169"
"00319649"	"05784"
"00319650"	"00169"
"00319650"	"05784"
"00319651"	"00169"
"00319651"	"05784"
"00319652"	"00169"
"00319652"	"05784"
"00319653"	"00169"
"00319653"	"01301"
"00319654"	"04193"
"00319655"	"00198"
"00319656"	"00169"
"00319656"	"05784"
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"00319657"	"05784"
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"00319658"	"05784"
"00319659"	"00169"
"00319659"	"05784"
"00319660"	"00169"
"00319660"	"05784"
"00319661"	"00169"
"00319661"	"05784"
"00319662"	"00198"
"00319663"	"00169"
"00319663"	"05784"
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"00319664"	"05784"
"00319665"	"00169"
"00319665"	"05784"
"00319666"	"00169"
"00319666"	"05784"
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"00319667"	"05784"
"00319668"	"00198"
"00319669"	"00169"
"00319669"	"05784"
"00319670"	"00198"
"00319671"	"00169"
"00319671"	"05784"
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"00319672"	"05784"
"00319673"	"00169"
"00319673"	"05784"
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"00319675"	"05784"
"00319676"	"00169"
"00319676"	"05784"
"00319677"	"00169"
"00319677"	"05784"
"00319678"	"00169"
"00319678"	"05784"
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"00319683"	"01302"
"00319683"	"05784"
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"00319702"	"00169"
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"00319707"	"04193"
"00319708"	"00169"
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"00319713"	"05784"
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"00319715"	"00169"
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"00319724"	"05784"
"00319725"	"00169"
"00319725"	"05784"
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"00319731"	"05784"
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"00319748"	"05784"
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"00319761"	"00198"
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"00319768"	"01302"
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"00319776"	"00169"
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"00319781"	"00169"
"00319781"	"05784"
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"00319783"	"00169"
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"00319784"	"05784"
"00319785"	"00169"
"00319785"	"05784"
"00319786"	"00169"
"00319786"	"05784"
"00319787"	"00169"
"00319787"	"05784"
"00319788"	"00169"
"00319788"	"05784"
"00319789"	"00198"
"00319790"	"00198"
"00319791"	"00198"
"00319792"	"00198"
"00319793"	"00169"
"00319793"	"05817"
"00319794"	"00198"
"00319795"	"00198"
"00319796"	"00198"
"00319797"	"00198"
"00319798"	"00198"
"00319799"	"00198"
"00319800"	"00169"
"00319800"	"05784"
"00319801"	"00169"
"00319801"	"05784"
"00319802"	"00198"
"00319803"	"00169"
"00319803"	"05784"
"00319804"	"00169"
"00319804"	"05784"
"00319805"	"00198"
"00319806"	"00169"
"00319806"	"05784"
"00319807"	"00169"
"00319807"	"05784"
"00319808"	"00169"
"00319808"	"05784"
"00319809"	"00198"
"00319810"	"00198"
"00319811"	"00198"
"00319812"	"00198"
"00319813"	"00198"
"00319814"	"00198"
"00319815"	"00198"
"00319933"	"00169"
"00319933"	"05784"
"00319993"	"05784"
"00333503"	"05784"
"00333788"	"05784"
"00333789"	"05784"
"00333790"	"05784"
"00333791"	"05784"
"00333792"	"05784"
"00333793"	"05784"
"00333794"	"05784"
"00333795"	"05784"
"00333796"	"05784"
"00333797"	"05784"
"00333798"	"05784"
"00333799"	"05784"
"00333800"	"05784"
"00333801"	"05784"
"00333802"	"05784"
"00333803"	"05784"
"00333804"	"05784"
"00334520"	"05784"
"00334521"	"05784"
"00334522"	"05784"
"00334527"	"05784"
"00334550"	"05784"
"00334551"	"05784"
"00334552"	"05784"
"00334554"	"05784"
"00334555"	"05784"
"00334576"	"05784"
"00334577"	"05784"
"00334578"	"05784"
"00334579"	"05784"
"00334580"	"05784"
"00334806"	"05784"
"00334807"	"05784"
"00334809"	"05784"
"00334810"	"05784"
"00334811"	"05784"
"00334812"	"05784"
"00334813"	"05784"
"00334814"	"05784"
"00334816"	"05784"
"00334817"	"05784"
"00334819"	"05784"
"00334820"	"05784"
"00334821"	"05784"
"00362882"	"05784"
"00362883"	"05784"
"00362884"	"05784"
"00362885"	"05784"
"00375212"	"00198"
"00385553"	"00409"
"00388269"	"01029"
"00402810"	"00169"
"00402811"	"00169"
"00404934"	"05784"
"00404938"	"00000"
"00411135"	"05784"
"00417024"	"00198"
"00417030"	"00198"
"00417040"	"00198"
"00417041"	"00198"
"00417047"	"00169"
"00417048"	"00169"
"00417050"	"00198"
"00417052"	"00169"
"00417054"	"00169"
"00417055"	"00198"
"00417058"	"00198"
"00417060"	"00198"
"00417066"	"00198"
"00417068"	"00198"
"00417072"	"00169"
"00417073"	"00198"
"00417078"	"00169"
"00417095"	"00169"
"00417102"	"00198"
"00417117"	"00169"
"00417118"	"00169"
"00417120"	"00169"
"00417127"	"00198"
"00417138"	"00169"
"00417140"	"00169"
"00417144"	"00198"
"00417145"	"00169"
"00417156"	"00198"
"00417158"	"00198"
"00419501"	"00198"
"00424791"	"05784"
"00424897"	"05784"
"00426475"	"00169"
"00428259"	"05784"
"00430291"	"05784"
"00431143"	"05784"
"00431792"	"00169"
"00431793"	"00198"
"00431795"	"00198"
"00431799"	"00169"
"00431805"	"00198"
"00431817"	"00198"
"00431821"	"04224"
"00434894"	"00169"
"00434894"	"05568"
"00434895"	"00169"
"00434895"	"05568"
"00434897"	"00169"
"00434897"	"05568"
"00434999"	"00169"
"00434999"	"05568"
"00435000"	"00169"
"00435000"	"05568"
"00435001"	"05784"
"00435001"	"06174"
"00452942"	"01029"
"00452943"	"05784"
"00453731"	"00152"
"00453732"	"00152"
"00453733"	"00152"
"00453734"	"00152"
"00453767"	"00152"
"00453779"	"00152"
"00453780"	"00152"
"00460934"	"00198"
"00460975"	"00198"
"00466176"	"00169"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00152, 00169, 00198, 00344, 00409, 01029, 01301, 01302, 02087, 03381, 04193, 04224, 05568, 05784, 05817, 06174
## Count = 137
"{{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}}"
"0000050920"	"02087"	"00064761"	"01602"	"Unknown"	""	"SIDS"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000081949"	"03381"	"00104015"	"00587"	"Unknown"	""	"diffuse-type or intestinal-type gastric cancer"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000105571"	"00169"	"00132808"	"00006"	"Familial, autosomal dominant"	""	"Ehlers-Danlos Syndrome type II"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000105572"	"00169"	"00132809"	"00006"	"Familial, autosomal dominant"	""	"Ehlers-Danlos Syndrome type II"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000143373"	"00344"	"00181164"	"02552"	"Isolated (sporadic)"	""	"HP:0008936\r\nHP:0001285\r\nHP:0000639\r\nHP:0000311\r\nHP:0000160\r\nHP:0000653\r\nHP:0000286\r\nHP:0003196\r\nHP:0000463\r\nHP:0000294\r\nHP:0006610"	"00y03m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000210557"	"00169"	"00276001"	"03559"	"Familial, autosomal recessive"	"19y"	"atrophic scars, tall stature, arachnodactyly, severe myopia"	"19y"	"nr"	""	""	""	"23y"	""	"reduced expression at western blot"	""	""	""	""	"Ehlers-Danlos syndrome (EDS)"	"Marfan syndrome"	""
"0000210576"	"00198"	"00276020"	"01164"	"Unknown"	""	"Abnormal elasticity of skin (HP:0010647); Abnormality of the curvature of the vertebral column (HP:0010674); Abnormality of skin morphology (HP:0011121); Mitral valve prolapse (HP:0001634); Abnormality of the aortic valve (HP:0001646); Bicuspid aortic valve (HP:0001647); Abnormality of the foot (HP:0001760); Pes planus (HP:0001763); Scoliosis (HP:0002650); Abnormality of the atrioventricular valves (HP:0006705)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000223107"	"00198"	"00295542"	"01164"	"Unknown"	""	"Abnormality of vitamin metabolism (HP:0100508); Vitamin D deficiency (HP:0100512); Abnormality of skeletal morphology (HP:0011842); Abnormal joint morphology (HP:0001367); Arthritis (HP:0001369); Joint hypermobility (HP:0001382); Abnormality of the skin (HP:0000951); Hyperextensible skin (HP:0000974)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000232013"	"00169"	"00306169"	"03731"	"Complex"	"08y"	""	""	""	""	""	""	"08y"	""	""	""	""	""	""	"Ehlers-Danlos syndrome classical type"	"Ehlers-Danlos syndrome classical type"	""
"0000241914"	"04193"	"00319563"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241915"	"00169"	"00319581"	"00085"	"-"	""	"Artery dissections,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241916"	"04193"	"00319582"	"03711"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241917"	"04193"	"00319595"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241918"	"00198"	"00319618"	"00085"	"-"	""	"Dental anomalies,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241919"	"00198"	"00319643"	"00085"	"-"	""	"Artery dissections,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241920"	"04193"	"00319654"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241921"	"04193"	"00319693"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241922"	"04193"	"00319707"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241923"	"04193"	"00319717"	"00085"	"-"	""	"Aortic aneurysms and/or dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000241924"	"00198"	"00319798"	"00085"	"-"	""	"Cervical artery dissection,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242035"	"05784"	"00319993"	"01164"	"Unknown"	"47y"	"Ischemic stroke (A. cerebri media left), Focal-onset seizure"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000251972"	"05784"	"00333788"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000251973"	"05784"	"00333789"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000251974"	"05784"	"00333790"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000251975"	"05784"	"00333791"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000251976"	"05784"	"00333792"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000251977"	"05784"	"00333793"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000251978"	"05784"	"00333794"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000251979"	"05784"	"00333795"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000251980"	"05784"	"00333796"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000251981"	"05784"	"00333797"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000251982"	"05784"	"00333797"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000251983"	"05784"	"00333798"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000251984"	"05784"	"00333799"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000251985"	"05784"	"00333800"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000251986"	"05784"	"00333801"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000251987"	"05784"	"00333802"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000251988"	"05784"	"00333803"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000251989"	"05784"	"00333804"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252581"	"05784"	"00334520"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252582"	"05784"	"00334521"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252584"	"05784"	"00334522"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252585"	"05784"	"00334527"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252590"	"05784"	"00334550"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252591"	"05784"	"00334551"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252592"	"05784"	"00334552"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252594"	"05784"	"00334554"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252595"	"05784"	"00334555"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252616"	"05784"	"00334576"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252617"	"05784"	"00334577"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252618"	"05784"	"00334578"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252619"	"05784"	"00334579"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252620"	"05784"	"00334580"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252629"	"05784"	"00334806"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252631"	"05784"	"00334807"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252632"	"05784"	"00334807"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252634"	"05784"	"00334809"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252635"	"05784"	"00334810"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252636"	"05784"	"00334811"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252637"	"05784"	"00334812"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252638"	"05784"	"00334813"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252639"	"05784"	"00334814"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252641"	"05784"	"00334816"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252642"	"05784"	"00334817"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252643"	"05784"	"00334819"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252645"	"05784"	"00334820"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000252646"	"05784"	"00334821"	"04004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000270422"	"00198"	"00375212"	"01164"	"Unknown"	""	"Joint hypermobility (HP:0001382)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000279348"	"00409"	"00385553"	"02544"	"Familial, autosomal dominant"	"08y"	"skin hyperextensibility, multiple atrophic and \"cigarette paper\" scars, easy bruising, absence of lingual frenum, generalized joint hypermobility (Beighton score [2]: 9/9), mild right-convex thoracic scoliosis, bilateral genu valgum-recurvatum, cubitus valgus with elbows hyperextensibility, and bilateral pes planus."	""	""	""	""	""	"09y"	""	""	""	""	""	""	"Classical Ehlers-Danlos syndrome"	"Classical Ehlers-Danlos syndrome"	""
"0000281824"	"01029"	"00388269"	"00000"	"Familial, autosomal dominant"	"32y"	"diopter right/left eye: -5.75/-11.5, corneal thickness right/left eye: 501/468"	""	""	""	""	""	"25y"	""	""	""	""	""	""	"keratoconus"	"keratoconus"	""
"0000297492"	"05784"	"00404934"	"02343"	"Familial, autosomal dominant"	"13y"	"Hyperextensible skin HP:0000974, Atrophic scars HP:0001075, Fragile skin HP:0001030, Joint hypermobility HP:0001382"	"01y"	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	"cEDS"	""
"0000297496"	"00000"	"00404938"	"02343"	"Unknown"	"56y"	"Unaffected mosaic father"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000308534"	"00198"	"00417024"	"02544"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308540"	"00198"	"00417030"	"02544"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308550"	"00198"	"00417040"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308551"	"00198"	"00417041"	"02544"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308557"	"00169"	"00417047"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"classical Ehlers-Danlos syndrome"	""
"0000308558"	"00169"	"00417048"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"classical Ehlers-Danlos syndrome"	""
"0000308560"	"00198"	"00417050"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308562"	"00169"	"00417052"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"classical Ehlers-Danlos syndrome"	""
"0000308564"	"00169"	"00417054"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"classical Ehlers-Danlos syndrome"	""
"0000308565"	"00198"	"00417055"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308568"	"00198"	"00417058"	"02544"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308570"	"00198"	"00417060"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308576"	"00198"	"00417066"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308578"	"00198"	"00417068"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308582"	"00169"	"00417072"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"classical Ehlers-Danlos syndrome"	""
"0000308583"	"00198"	"00417073"	"02544"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308588"	"00169"	"00417078"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"classical Ehlers-Danlos syndrome"	""
"0000308605"	"00169"	"00417095"	"02544"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"classical Ehlers-Danlos syndrome"	""
"0000308612"	"00198"	"00417102"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308627"	"00169"	"00417117"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"classical Ehlers-Danlos syndrome"	""
"0000308628"	"00169"	"00417118"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"classical Ehlers-Danlos syndrome"	""
"0000308630"	"00169"	"00417120"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"classical Ehlers-Danlos syndrome"	""
"0000308637"	"00198"	"00417127"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308648"	"00169"	"00417138"	"02544"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"classical Ehlers-Danlos syndrome"	""
"0000308650"	"00169"	"00417140"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"classical Ehlers-Danlos syndrome"	""
"0000308654"	"00198"	"00417144"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308655"	"00169"	"00417145"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"classical Ehlers-Danlos syndrome"	""
"0000308666"	"00198"	"00417156"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308668"	"00198"	"00417158"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000310782"	"00198"	"00419501"	"02300"	"Isolated (sporadic)"	"3y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"skeletal and/or connective tissue abnormality"	""
"0000315986"	"05784"	"00424791"	"04419"	"Familial, autosomal dominant"	"13y"	"Poor healing was noted following a tympanoplasty. Patient fractured his wrist and elbow while playing basketball. He experienced multiple spontaneous knee dislocations beginning at 9 years of age  and generalized joint hypermobility, loose skin, excessive bruising, and poor scarring."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000316092"	"00169"	"00424897"	"00006"	"Familial, autosomal dominant"	""	"stretchable thin skin, poor scaring, hypermobile joints with pain and easy bruising; Beighton\'s hyperflexibility score 6/9; multiple knee surgeries; strabismus (exotropia) 12y-repaired; surgery right knee due to frequent dislocations; bilateral foot surgeries due to pes planus; 37y-stroke without hypertension; 43y-cardiac transplant for heart failure"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000317630"	"00169"	"00426475"	"02529"	"Isolated (sporadic)"	"05y"	"bilateral blue sclera, mild malar hypoplasia, skin hyperextensibility, large bruising in forearms and knees, bilateral flat foot, and joint hyper laxity"	"00y"	""	""	""	""	"05y"	"developmental hip dysplasia"	"COL5A1"	""	""	""	""	"Ehlers Danlos syndrome"	"Developmental hip dysplasia"	""
"0000319164"	"05784"	"00428259"	"04446"	"Isolated (sporadic)"	"53"	"Fragile skin from early childhood - plastic surgery required for degloving incidents.\r\ninguinal hernia repair 8yr;\r\nrecurrent dislocations;\r\n early periodontal disease and teeth loss.\r\n\'pseudotumour\' molluscoid lumps over hand and elbows - work related.\r\nAortic aneurysm detected age 50yr (aortic root 45mm) when evaluated for syncopal episode."	""	""	""	""	""	"<10y"	"bilateral talipes at birth."	""	""	""	""	""	"EDS"	"EDS"	""
"0000321099"	"05784"	"00430291"	"04419"	"Unknown"	"24y"	"mild intellectual disability; Joint hypermobility. Dysmorphic features consisting of palpebral fissures, telecanthus, epicanthus, a long nose, and prominent alae nasi, prominent cheeks, and cup ears."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321752"	"05784"	"00431143"	"04419"	"Unknown"	"04y"	"Easy bruising, unresolved pre-tibial hematoma, multiple ecchymoses, joint hypermobility and polyarthralgia\r\nwere noted since childhood. Beighton score of 7."	""	""	""	""	""	"05y"	""	""	""	""	""	""	""	""	""
"0000322361"	"00169"	"00431792"	"04136"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"classical Ehlers-Danlos syndrome"	""
"0000322362"	"00198"	"00431793"	"04136"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"unclassified Mendelian soft connective tissue disorder"	""
"0000322364"	"00198"	"00431795"	"04136"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"unclassified Mendelian soft connective tissue disorder"	""
"0000322368"	"00169"	"00431799"	"04136"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"classical Ehlers-Danlos syndrome"	""
"0000322374"	"00198"	"00431805"	"04136"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"unclassified Mendelian soft connective tissue disorder"	""
"0000322386"	"00198"	"00431817"	"04136"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"unclassified Mendelian soft connective tissue disorder"	""
"0000322390"	"04224"	"00431821"	"04136"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Stickler syndrome"	""
"0000325136"	"05568"	"00434894"	"04419"	"Unknown"	""	"Diagnosis was based on slit-lamp biomicroscopy and tomographic evaluation of the cornea"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000325137"	"00169"	"00434894"	"04419"	"Unknown"	""	"Hypermobility, fragile skin, easy bruising."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000325138"	"00169"	"00434895"	"04419"	"Unknown"	""	"Hypermobility, fragile skin, easy bruising."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000325139"	"05568"	"00434895"	"04419"	"Unknown"	""	"Diagnosis was based on slit-lamp biomicroscopy and tomographic evaluation of the cornea."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000325142"	"00169"	"00434897"	"04419"	"Unknown"	""	"Hypermobility, fragile skin, easy bruising."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000325143"	"05568"	"00434897"	"04419"	"Unknown"	""	"Diagnosis was based on slit-lamp biomicroscopy and tomographic evaluation of the cornea."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000325239"	"00169"	"00434999"	"04419"	"Unknown"	""	"Hypermobility, fragile skin, easy bruising."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000325240"	"05568"	"00434999"	"04419"	"Unknown"	""	"Diagnosis was based on slit-lamp biomicroscopy and tomographic evaluation of the cornea."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000325241"	"00169"	"00435000"	"04419"	"Unknown"	""	"Hypermobility, fragile skin, easy bruising."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000325242"	"05568"	"00435000"	"04419"	"Unknown"	""	"Diagnosis was based on slit-lamp biomicroscopy and tomographic evaluation of the cornea."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000325243"	"05784"	"00435001"	"04419"	"Familial"	"05y"	"Bilateral club feet, bilateral pes adductus, central coordination disturbance, and asymmetry of posture and tonus were noted and retrospectively attributed to joint hypermobility. Hypermobility of the ankles as a baby, recurring luxation of the patella and chronic joint pain at the age of four years, bluish discolorations on her shins and forearms, skin was very soft and hyperelastic; multiple subcutaneous papules and few atrophic scars."	""	""	""	""	""	""	""	""	""	""	""	""	""	"cEDS"	""
"0000325244"	"06174"	"00435001"	"04419"	"Isolated (sporadic)"	"05y"	"Premature loss of two lower incisors at four years of age, primary dentition with missing teeth 71 and 81. Gingival inflammation and probing pocket depths ≤3 mm. Furcation involvement grade III was diagnosed for deciduous molars 54, 64, 74, and 84. Lack of attached gingiva and severe gingival recession up to 6 mm was found for all primary teeth except the lower second molars."	"04y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000341585"	"01029"	"00452942"	"04693"	"Unknown"	"76y"	"Keratoconus (HP:0000563), pectus excavatum (HP:0000767)."	""	""	""	""	""	""	"Keratoconus (HP:0000563) since early childhood."	""	""	""	""	""	""	""	""
"0000341593"	"05784"	"00452943"	"04693"	"Familial, autosomal dominant"	"34y"	"Iliac artery aneurysm (HP:4000067), incisional hernia (HP:0004872), bruising susceptibility (HP:0000978), soft doughy skin (HP:0001027), hyperextensible skin (HP:0000974), blue sclerae (HP:0000592), joint hypermobility (HP:0001382), pectus excavatum (HP:0000767)."	""	""	""	""	""	"46y"	"Iliac artery aneurysm HP:4000067 at age 40 and 46."	""	""	""	""	""	"EDSCL1"	"classic EDS, ?vascular EDS"	""
"0000342388"	"00152"	"00453731"	"00006"	"Unknown"	""	"aortic valve replacement, coarctation repair; root and ascending aneurysm, coarctation, ventricular septal defect"	""	""	""	""	""	""	""	""	""	""	""	""	""	"bicuspid aortic valve"	""
"0000342389"	"00152"	"00453732"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"bicuspid aortic valve"	""
"0000342390"	"00152"	"00453733"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"bicuspid aortic valve"	""
"0000342391"	"00152"	"00453734"	"00006"	"Unknown"	""	"aortic valve replacement; coarctation"	""	""	""	""	""	""	""	""	""	""	""	""	""	"bicuspid aortic valve"	""
"0000342424"	"00152"	"00453767"	"00006"	"Unknown"	""	"ventricular septal defect"	""	""	""	""	""	""	""	""	""	""	""	""	""	"bicuspid aortic valve"	""
"0000342436"	"00152"	"00453779"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"bicuspid aortic valve"	""
"0000342437"	"00152"	"00453780"	"00006"	"Unknown"	""	"aortic valve replacement and aortic root replacement"	""	""	""	""	""	""	""	""	""	""	""	""	""	"bicuspid aortic valve"	""
"0000351563"	"00169"	"00466176"	"03820"	"Unknown"	""	"Epilepsy, Intellectual disability, Microcephaly, hypermobility syndrome, microcephaly primary"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Ehlers-Danlos syndrome (EDS)"	""


## Screenings ## Do not remove or alter this header ##
## Count = 406
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000064902"	"00064761"	"1"	"01602"	"01602"	"2016-05-11 14:55:26"	"01602"	"2016-05-19 13:26:53"	"SEQ-NG-I"	"DNA"	""	""
"0000104486"	"00104015"	"1"	"00587"	"00006"	"2017-04-28 08:15:46"	""	""	"SEQ-NG"	"DNA"	""	""
"0000133642"	"00132808"	"1"	"00006"	"00006"	"2017-11-09 19:41:17"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000133643"	"00132809"	"1"	"00006"	"00006"	"2017-11-09 19:50:30"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000182122"	"00181164"	"1"	"02552"	"02552"	"2018-10-02 14:24:16"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"WES"
"0000277151"	"00276001"	"1"	"03559"	"03559"	"2020-01-23 11:10:35"	""	""	"expr;PCRq;RT-PCR;SEQ;SEQ-NG-I;Western"	"DNA;RNA;protein"	"Peripheral blood, fibroblasts"	"WES (whole exome sequencing)"
"0000277167"	"00276020"	"1"	"01164"	"01164"	"2020-01-24 11:02:03"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000295965"	"00294797"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000295966"	"00294798"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000295967"	"00294799"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000295968"	"00294800"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000295969"	"00294801"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000295970"	"00294802"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296712"	"00295542"	"1"	"01164"	"01164"	"2020-03-18 10:47:23"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000306366"	"00305237"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000307302"	"00306169"	"1"	"03731"	"03731"	"2020-07-09 18:13:09"	""	""	"SEQ-NG-IT"	"DNA"	"blood"	"35 genes panel"
"0000320727"	"00319546"	"1"	"03705"	"03705"	"2012-11-02 10:42:40"	"00085"	"2013-04-22 13:54:41"	"MLPA;PCR;SEQ"	"DNA"	""	""
"0000320728"	"00319547"	"1"	"00085"	"00085"	"2009-11-10 11:30:54"	""	""	"?"	"?"	""	""
"0000320729"	"00319548"	"1"	"01819"	"00085"	"2009-10-16 11:04:16"	"00085"	"2012-11-06 13:44:50"	"PAGE;PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320730"	"00319549"	"1"	"01819"	"00085"	"2009-10-16 10:59:47"	"00085"	"2012-11-06 13:44:19"	"PAGE;PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320731"	"00319550"	"1"	"03705"	"03705"	"2012-10-29 11:47:35"	"00085"	"2013-04-22 13:20:55"	"PCR;SEQ"	"DNA"	""	""
"0000320732"	"00319551"	"1"	"01819"	"01819"	"2012-05-08 09:22:34"	"00085"	"2012-11-06 09:40:15"	"PCR;SEQ"	"DNA"	""	""
"0000320733"	"00319552"	"1"	"03717"	"03717"	"2017-09-18 17:35:22"	"00085"	"2020-02-13 14:32:01"	"SEQ"	"DNA"	""	""
"0000320734"	"00319553"	"1"	"00085"	"00085"	"2020-02-27 16:37:02"	"00085"	"2020-02-27 16:37:16"	"SEQ-NG"	"DNA"	""	""
"0000320735"	"00319554"	"1"	"00085"	"00085"	"2020-03-26 15:04:07"	"00085"	"2020-03-26 15:05:57"	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000320736"	"00319555"	"1"	"03705"	"03705"	"2014-08-04 11:35:18"	"00085"	"2014-08-05 12:46:08"	"PCR;SEQ"	"DNA"	""	""
"0000320737"	"00319556"	"1"	"00085"	"00085"	"2020-01-30 11:34:03"	""	""	"SEQ-NG"	"DNA"	""	""
"0000320738"	"00319557"	"1"	"00085"	"00085"	"2009-10-12 15:23:44"	"00085"	"2011-08-23 14:41:39"	"PAGE;PCR;RT-PCR;HD"	"DNA;RNA"	""	""
"0000320739"	"00319558"	"1"	"03705"	"03705"	"2018-06-19 16:38:04"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320740"	"00319559"	"1"	"00085"	"00085"	"2009-11-10 11:33:27"	""	""	"?"	"?"	""	""
"0000320741"	"00319560"	"1"	"03705"	"03705"	"2015-08-25 10:47:55"	""	""	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320742"	"00319561"	"1"	"00085"	"00085"	"2015-12-21 16:11:17"	"00085"	"2015-12-21 16:12:08"	"?"	"DNA"	""	""
"0000320743"	"00319562"	"1"	"03717"	"03717"	"2017-09-18 17:36:41"	"00085"	"2020-07-01 14:42:31"	"SEQ"	"DNA"	""	""
"0000320744"	"00319563"	"1"	"00085"	"00085"	"2020-02-18 09:52:51"	""	""	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000320745"	"00319564"	"1"	"01819"	"01819"	"2012-05-08 09:25:15"	"00085"	"2012-11-06 09:41:42"	"PCR;SEQ"	"DNA"	""	""
"0000320746"	"00319565"	"1"	"00085"	"00085"	"2013-09-05 13:07:43"	""	""	"SEQ"	"DNA"	""	""
"0000320747"	"00319566"	"1"	"03705"	"03705"	"2018-11-16 10:58:07"	"00085"	"2019-10-16 13:37:17"	"SEQ-NG"	"DNA"	""	""
"0000320748"	"00319567"	"1"	"01819"	"00085"	"2009-10-08 11:45:39"	"00085"	"2012-11-06 13:45:46"	"DHPLC;PCR;RT-PCR;SEQ;CSGE;SSCA"	"DNA;RNA"	""	""
"0000320749"	"00319568"	"1"	"01819"	"00085"	"2009-10-08 13:24:42"	"00085"	"2015-02-20 10:02:50"	"DHPLC;PCR;RT-PCR;SEQ;CSGE;SSCA"	"DNA;RNA"	""	""
"0000320750"	"00319569"	"1"	"00085"	"00085"	"2009-10-06 16:48:38"	"00085"	"2011-08-23 14:43:25"	"PCR;RT-PCR;SEQ;HD"	"DNA;RNA"	""	""
"0000320751"	"00319570"	"1"	"03705"	"03705"	"2012-10-29 11:51:22"	"00085"	"2013-04-22 13:56:13"	"PCR;SEQ"	"DNA"	""	""
"0000320752"	"00319571"	"1"	"01819"	"01819"	"2012-05-08 09:27:34"	"00085"	"2012-11-06 09:51:41"	"PCR;SEQ"	"DNA"	""	""
"0000320753"	"00319572"	"1"	"00085"	"00085"	"2009-10-19 13:13:41"	"00085"	"2011-10-28 08:55:51"	"PCR;RT-PCR;SSCA"	"DNA;RNA"	""	""
"0000320754"	"00319573"	"1"	"00085"	"00085"	"2009-10-13 16:56:54"	"00085"	"2011-08-23 14:44:49"	"PAGE;PCR;RT-PCR;SEQ;Southern"	"DNA;RNA"	""	""
"0000320755"	"00319574"	"1"	"03705"	"03705"	"2015-08-25 13:44:16"	"00085"	"2015-09-02 10:58:38"	"MLPA;PCR;SEQ"	"DNA"	""	""
"0000320756"	"00319575"	"1"	"01819"	"00085"	"2009-10-07 15:25:32"	"00085"	"2011-08-23 14:45:19"	"DHPLC;PCR;RT-PCR;SEQ;CSGE;SSCA"	"DNA;RNA"	""	""
"0000320757"	"00319576"	"1"	"01819"	"01819"	"2012-05-08 09:55:10"	"00085"	"2012-11-06 14:13:11"	"PCR;SEQ"	"DNA"	""	""
"0000320758"	"00319577"	"1"	"00085"	"00085"	"2009-10-19 13:20:17"	"00085"	"2011-08-23 15:55:44"	"PCR;RT-PCR;SSCA"	"DNA;RNA"	""	""
"0000320759"	"00319578"	"1"	"03711"	"00085"	"2016-08-02 11:14:12"	"00085"	"2016-08-02 11:24:33"	"SEQ-NG"	"DNA"	""	""
"0000320760"	"00319579"	"1"	"00085"	"00085"	"2020-03-18 14:33:38"	""	""	"SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000320761"	"00319580"	"1"	"03705"	"03705"	"2016-10-10 10:22:14"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320762"	"00319581"	"1"	"00085"	"00085"	"2020-02-21 13:04:45"	""	""	"?"	"DNA"	""	""
"0000320763"	"00319582"	"1"	"03711"	"03711"	"2015-05-15 07:10:33"	"03711"	"2015-05-15 07:18:03"	"SEQ-NG"	"DNA"	""	""
"0000320764"	"00319583"	"1"	"03711"	"03711"	"2015-05-15 07:32:52"	"00085"	"2016-08-02 11:29:31"	"SEQ-NG"	"DNA"	""	""
"0000320765"	"00319584"	"1"	"01819"	"00085"	"2011-06-01 11:13:45"	"00085"	"2012-11-06 13:56:46"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320766"	"00319585"	"1"	"01819"	"01819"	"2012-05-08 09:53:02"	"00085"	"2012-11-06 13:57:33"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320767"	"00319586"	"1"	"03717"	"03717"	"2017-09-18 17:42:43"	"00085"	"2020-07-01 14:43:45"	"SEQ"	"DNA"	""	""
"0000320768"	"00319587"	"1"	"00085"	"00085"	"2020-02-14 16:54:25"	"00085"	"2020-02-14 16:54:42"	"SEQ;SEQ-NG"	"DNA"	""	""
"0000320769"	"00319588"	"1"	"00085"	"00085"	"2020-03-18 14:41:28"	""	""	"SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000320770"	"00319589"	"1"	"03705"	"03705"	"2014-02-28 13:34:46"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320771"	"00319590"	"1"	"01819"	"01819"	"2012-05-08 09:57:41"	"00085"	"2012-11-06 14:14:49"	"PCR;SEQ"	"DNA"	""	""
"0000320772"	"00319591"	"1"	"00085"	"00085"	"2009-11-10 11:38:51"	""	""	"?"	"?"	""	""
"0000320773"	"00319592"	"1"	"03717"	"03717"	"2017-09-18 17:44:10"	"00085"	"2020-07-01 15:08:59"	"SEQ"	"DNA"	""	""
"0000320774"	"00319593"	"1"	"03717"	"03717"	"2017-09-18 17:45:49"	"00085"	"2020-07-01 15:10:19"	"SEQ"	"DNA"	""	""
"0000320775"	"00319594"	"1"	"00085"	"00085"	"2009-10-19 13:17:29"	"00085"	"2011-08-23 15:57:24"	"PCR;RT-PCR;SSCA"	"DNA;RNA"	""	""
"0000320776"	"00319595"	"1"	"00085"	"00085"	"2015-07-27 13:53:58"	""	""	"SEQ-NG"	"DNA"	""	""
"0000320777"	"00319596"	"1"	"00085"	"00085"	"2009-11-10 11:41:47"	""	""	"?"	"?"	""	""
"0000320778"	"00319597"	"1"	"03705"	"03705"	"2012-10-29 12:00:46"	"00085"	"2013-04-22 13:22:08"	"PCR;SEQ"	"DNA"	""	""
"0000320779"	"00319598"	"1"	"03717"	"03717"	"2020-01-29 09:32:11"	""	""	"SEQ"	"DNA"	""	""
"0000320780"	"00319599"	"1"	"01819"	"01819"	"2012-05-08 09:59:47"	"00085"	"2012-11-06 14:16:30"	"PCR;SEQ"	"DNA"	""	""
"0000320781"	"00319600"	"1"	"03706"	"03706"	"2012-03-21 11:00:28"	""	""	"SEQ"	"DNA"	""	""
"0000320782"	"00319601"	"1"	"03705"	"03705"	"2016-10-10 10:25:39"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320783"	"00319602"	"1"	"00085"	"00085"	"2009-11-10 11:43:16"	""	""	"?"	"?"	""	""
"0000320784"	"00319603"	"1"	"01819"	"01819"	"2012-05-08 10:01:21"	"00085"	"2012-11-06 14:32:10"	"PCR;SEQ"	"DNA"	""	""
"0000320785"	"00319604"	"1"	"01819"	"01819"	"2012-05-08 10:03:11"	"00085"	"2012-11-06 14:33:32"	"PCR;SEQ"	"DNA"	""	""
"0000320786"	"00319605"	"1"	"01819"	"01819"	"2012-05-08 10:05:59"	"00085"	"2012-11-06 14:34:57"	"PCR;SEQ"	"DNA"	""	""
"0000320787"	"00319606"	"1"	"00085"	"00085"	"2009-11-10 11:44:35"	""	""	"?"	"?"	""	""
"0000320788"	"00319607"	"1"	"01819"	"01819"	"2012-05-08 10:08:05"	"00085"	"2012-11-06 14:36:17"	"PCR;SEQ"	"DNA"	""	""
"0000320789"	"00319608"	"1"	"01819"	"01819"	"2012-05-08 10:09:56"	"00085"	"2012-11-06 14:37:47"	"PCR;SEQ"	"DNA"	""	""
"0000320790"	"00319609"	"1"	"00085"	"00085"	"2014-04-04 09:58:59"	""	""	"SEQ"	"DNA"	""	""
"0000320791"	"00319610"	"1"	"03705"	"03705"	"2014-08-04 11:21:18"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320792"	"00319611"	"1"	"00085"	"00085"	"2009-11-10 11:46:36"	""	""	"?"	"?"	""	""
"0000320793"	"00319612"	"1"	"01819"	"00085"	"2009-10-08 12:01:04"	"00085"	"2015-02-20 09:57:59"	"DHPLC;PCR;RT-PCR;SEQ;CSGE;SSCA"	"DNA;RNA"	""	""
"0000320794"	"00319613"	"1"	"01819"	"00085"	"2009-10-08 12:48:07"	"00085"	"2015-02-20 10:00:04"	"DHPLC;PCR;RT-PCR;SEQ;CSGE;SSCA"	"DNA;RNA"	""	""
"0000320795"	"00319614"	"1"	"01819"	"00085"	"2009-10-08 13:18:33"	"00085"	"2015-02-20 10:01:29"	"DHPLC;PCR;RT-PCR;SEQ;CSGE;SSCA"	"DNA;RNA"	""	""
"0000320796"	"00319615"	"1"	"00085"	"00085"	"2009-10-14 12:30:59"	"00085"	"2011-08-23 16:07:56"	"PCR;RT-PCR;SEQ;NUC;NUC"	"DNA;RNA"	""	""
"0000320797"	"00319616"	"1"	"00085"	"00085"	"2009-10-16 15:18:22"	"00085"	"2015-02-20 10:06:07"	"PCR;RT-PCR;SEQ;CSGE;SSCA"	"DNA;RNA"	""	""
"0000320798"	"00319617"	"1"	"00085"	"00085"	"2019-12-19 11:59:40"	""	""	"SEQ-NG"	"DNA"	""	""
"0000320799"	"00319618"	"1"	"00085"	"00085"	"2020-01-29 15:31:04"	"00085"	"2020-07-06 11:38:33"	"SEQ-NG"	"DNA"	""	""
"0000320800"	"00319619"	"1"	"00085"	"00085"	"2009-10-20 11:28:08"	"00085"	"2011-08-23 14:52:39"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320801"	"00319620"	"1"	"03705"	"03705"	"2012-11-02 09:16:43"	"00085"	"2013-04-22 13:23:06"	"PCR;SEQ"	"DNA"	""	""
"0000320802"	"00319621"	"1"	"00085"	"00085"	"2009-10-07 11:39:07"	"00085"	"2011-08-23 14:53:26"	"PCR;RT-PCR;SEQ;HD"	"DNA;RNA"	""	""
"0000320803"	"00319622"	"1"	"03717"	"03717"	"2017-09-18 17:50:35"	""	""	"SEQ"	"DNA"	""	""
"0000320804"	"00319623"	"1"	"00085"	"00085"	"2009-10-13 14:39:40"	"00085"	"2011-08-23 14:54:02"	"PCR;SEQ;HD;SSCA"	"DNA;RNA"	""	""
"0000320805"	"00319624"	"1"	"00085"	"00085"	"2009-10-13 12:54:44"	"00085"	"2011-08-23 14:54:57"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320806"	"00319625"	"1"	"03711"	"03711"	"2015-05-15 07:25:07"	"00085"	"2016-08-02 11:33:28"	"SEQ-NG"	"DNA"	""	""
"0000320807"	"00319626"	"1"	"01819"	"00085"	"2009-10-07 15:32:37"	"00085"	"2011-08-23 14:56:29"	"DHPLC;PCR;RT-PCR;SEQ;CSGE;SSCA"	"DNA;RNA"	""	""
"0000320808"	"00319627"	"1"	"01819"	"00085"	"2009-10-08 13:13:42"	"00085"	"2011-08-23 14:56:57"	"DHPLC;PCR;RT-PCR;SEQ;CSGE;SSCA"	"DNA;RNA"	""	""
"0000320809"	"00319628"	"1"	"01819"	"00085"	"2009-10-07 15:00:43"	"00085"	"2011-08-23 14:57:44"	"DHPLC;PCR;RT-PCR;SEQ;CSGE;SSCA"	"DNA;RNA"	""	""
"0000320810"	"00319629"	"1"	"00085"	"00085"	"2020-02-14 15:50:16"	""	""	"SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000320811"	"00319630"	"1"	"01819"	"01819"	"2012-05-08 10:11:29"	"00085"	"2012-11-06 14:58:26"	"PCR;SEQ"	"DNA"	""	""
"0000320812"	"00319631"	"1"	"03706"	"03706"	"2011-12-20 11:07:45"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000320813"	"00319632"	"1"	"00085"	"00085"	"2009-10-07 12:36:10"	"00085"	"2011-08-23 14:58:28"	"PCR;RT-PCR;SEQ;HD"	"DNA;RNA"	""	""
"0000320814"	"00319633"	"1"	"03705"	"03705"	"2015-03-06 10:05:45"	"00085"	"2015-04-13 11:34:15"	"PCR;SEQ"	"DNA"	""	""
"0000320815"	"00319634"	"1"	"03717"	"03717"	"2020-01-27 20:55:51"	""	""	"SEQ"	"DNA"	""	""
"0000320816"	"00319635"	"1"	"01819"	"01819"	"2012-05-08 10:13:13"	"00085"	"2012-11-06 14:59:54"	"PCR;SEQ"	"DNA"	""	""
"0000320817"	"00319636"	"1"	"00085"	"00085"	"2009-11-10 11:59:40"	""	""	"?"	"?"	""	""
"0000320818"	"00319637"	"1"	"03706"	"03706"	"2011-11-23 08:12:45"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000320819"	"00319638"	"1"	"03711"	"03711"	"2015-05-15 07:21:41"	"00085"	"2016-08-02 11:01:57"	"SEQ-NG"	"DNA"	""	""
"0000320820"	"00319639"	"1"	"03711"	"03711"	"2015-05-15 07:27:06"	"00085"	"2016-08-02 11:05:38"	"SEQ-NG"	"DNA"	""	""
"0000320821"	"00319640"	"1"	"01819"	"01819"	"2012-05-08 10:14:51"	"00085"	"2012-11-06 15:02:07"	"PCR;SEQ"	"DNA"	""	""
"0000320822"	"00319641"	"1"	"00085"	"00085"	"2013-09-11 10:42:48"	"00085"	"2017-06-22 11:58:21"	"SEQ"	"DNA"	""	""
"0000320823"	"00319642"	"1"	"00085"	"00085"	"2020-03-06 09:35:24"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000320824"	"00319643"	"1"	"00085"	"00085"	"2020-01-16 09:33:27"	"00085"	"2020-01-28 15:03:48"	"SEQ-NG;PCR"	"DNA"	""	""
"0000320825"	"00319644"	"1"	"00085"	"00085"	"2009-10-12 15:26:04"	"00085"	"2011-08-23 14:59:18"	"PAGE;PCR;RT-PCR;HD"	"DNA;RNA"	""	""
"0000320826"	"00319645"	"1"	"00085"	"00085"	"2020-02-14 15:53:39"	""	""	"SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000320827"	"00319646"	"1"	"01819"	"01819"	"2012-05-08 10:16:26"	"00085"	"2012-11-06 15:04:19"	"PCR;SEQ"	"DNA"	""	""
"0000320828"	"00319647"	"1"	"01819"	"01819"	"2012-05-08 10:21:18"	"00085"	"2012-11-06 15:11:00"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320829"	"00319648"	"1"	"00085"	"00085"	"2009-10-07 12:38:27"	"00085"	"2011-08-23 14:59:55"	"PCR;RT-PCR;SEQ;HD"	"DNA;RNA"	""	""
"0000320830"	"00319649"	"1"	"01819"	"01819"	"2012-05-08 10:22:43"	"00085"	"2012-11-06 15:13:01"	"PCR;SEQ"	"DNA"	""	""
"0000320831"	"00319650"	"1"	"00085"	"00085"	"2009-10-12 15:10:56"	"00085"	"2011-08-23 15:02:05"	"PAGE;PCR;RT-PCR;HD"	"DNA;RNA"	""	""
"0000320832"	"00319651"	"1"	"03705"	"03705"	"2012-11-02 09:26:09"	"00085"	"2013-04-22 13:57:30"	"PCR;SEQ"	"DNA"	""	""
"0000320833"	"00319652"	"1"	"03705"	"03705"	"2019-04-30 13:19:06"	""	""	"SEQ-NG"	"DNA"	""	""
"0000320834"	"00319653"	"1"	"03711"	"03711"	"2015-05-15 06:58:41"	""	""	"SEQ-NG"	"DNA"	""	""
"0000320835"	"00319654"	"1"	"00085"	"00085"	"2020-02-17 14:12:42"	""	""	"SEQ-NG;PCRm"	"DNA"	""	""
"0000320836"	"00319655"	"1"	"00085"	"00085"	"2009-11-10 12:01:17"	"00085"	"2018-04-13 13:42:10"	"?"	"?"	""	""
"0000320837"	"00319656"	"1"	"03706"	"03706"	"2011-10-05 11:28:12"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000320838"	"00319657"	"1"	"03717"	"03717"	"2017-09-18 17:32:51"	""	""	"SEQ"	"DNA"	""	""
"0000320839"	"00319658"	"1"	"03705"	"03705"	"2012-11-02 09:30:30"	"00085"	"2013-04-22 13:28:54"	"PCR;SEQ"	"DNA"	""	""
"0000320840"	"00319659"	"1"	"00085"	"00085"	"2009-10-20 11:24:16"	"00085"	"2011-08-23 14:55:47"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320841"	"00319660"	"1"	"01819"	"00085"	"2009-10-08 11:35:26"	"00085"	"2011-08-23 15:00:34"	"DHPLC;PCR;RT-PCR;SEQ;CSGE;SSCA"	"DNA;RNA"	""	""
"0000320842"	"00319661"	"1"	"00085"	"00085"	"2020-02-04 16:03:19"	"00085"	"2020-07-01 14:30:40"	"?"	"DNA"	""	""
"0000320843"	"00319662"	"1"	"00085"	"00085"	"2009-11-10 12:03:08"	""	""	"?"	"?"	""	""
"0000320844"	"00319663"	"1"	"03705"	"03705"	"2012-11-02 09:35:06"	"00085"	"2013-04-22 13:32:28"	"PCR;SEQ"	"DNA"	""	""
"0000320845"	"00319664"	"1"	"00085"	"00085"	"2013-06-14 13:26:11"	""	""	"SEQ"	"DNA"	""	""
"0000320846"	"00319665"	"1"	"01819"	"01819"	"2012-05-08 10:24:21"	"00085"	"2012-11-06 16:05:53"	"PCR;SEQ"	"DNA"	""	""
"0000320847"	"00319666"	"1"	"00085"	"00085"	"2009-10-07 12:40:49"	"00085"	"2011-08-23 15:04:26"	"PCR;RT-PCR;SEQ;HD"	"DNA;RNA"	""	""
"0000320848"	"00319667"	"1"	"00085"	"00085"	"2009-10-07 12:42:27"	"00085"	"2011-08-23 15:05:18"	"PCR;RT-PCR;SEQ;HD"	"DNA;RNA"	""	""
"0000320849"	"00319668"	"1"	"00085"	"00085"	"2009-11-10 12:15:35"	""	""	"?"	"?"	""	""
"0000320850"	"00319669"	"1"	"03705"	"03705"	"2012-11-02 09:38:31"	"00085"	"2013-04-22 13:33:54"	"PCR;SEQ"	"DNA"	""	""
"0000320851"	"00319670"	"1"	"00085"	"00085"	"2009-10-19 13:22:01"	"00085"	"2011-08-23 15:06:17"	"PCR;RT-PCR;SSCA"	"DNA;RNA"	""	""
"0000320852"	"00319671"	"1"	"01819"	"01819"	"2012-05-08 10:28:00"	"00085"	"2012-11-06 16:12:46"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320853"	"00319672"	"1"	"03705"	"03705"	"2012-11-02 09:43:41"	"00085"	"2013-04-22 13:58:22"	"PCR;SEQ"	"DNA"	""	""
"0000320854"	"00319673"	"1"	"03705"	"03705"	"2012-11-02 09:47:27"	"00085"	"2013-04-22 13:35:29"	"PCR;SEQ"	"DNA"	""	""
"0000320855"	"00319674"	"1"	"03705"	"03705"	"2012-11-02 09:50:22"	"00085"	"2013-04-22 13:36:30"	"PCR;SEQ"	"DNA"	""	""
"0000320856"	"00319675"	"1"	"03705"	"03705"	"2013-12-02 14:55:12"	"00085"	"2013-12-06 11:28:48"	"PCR;SEQ"	"DNA"	""	""
"0000320857"	"00319676"	"1"	"01819"	"01819"	"2012-05-08 10:29:23"	"00085"	"2012-11-06 16:15:37"	"PCR;SEQ"	"DNA"	""	""
"0000320858"	"00319677"	"1"	"03705"	"03705"	"2012-11-02 09:53:22"	"00085"	"2013-04-22 13:44:01"	"PCR;SEQ"	"DNA"	""	""
"0000320859"	"00319678"	"1"	"03717"	"03717"	"2020-01-27 20:49:03"	""	""	"SEQ"	"DNA"	""	""
"0000320860"	"00319679"	"1"	"01819"	"01819"	"2012-05-08 10:30:45"	"00085"	"2012-11-06 16:16:53"	"PCR;SEQ"	"DNA"	""	""
"0000320861"	"00319680"	"1"	"01819"	"01819"	"2012-05-08 10:32:08"	"00085"	"2012-11-06 16:28:42"	"PCR;SEQ"	"DNA"	""	""
"0000320862"	"00319681"	"1"	"01819"	"01819"	"2012-05-08 10:33:17"	"00085"	"2012-11-06 16:30:33"	"PCR;SEQ"	"DNA"	""	""
"0000320863"	"00319682"	"1"	"01819"	"00085"	"2009-10-08 11:54:06"	"00085"	"2011-08-23 15:07:01"	"DHPLC;PCR;RT-PCR;SEQ;CSGE;SSCA"	"DNA;RNA"	""	""
"0000320864"	"00319683"	"1"	"03711"	"03711"	"2015-05-15 07:02:32"	"00085"	"2020-09-23 13:58:52"	"SEQ-NG"	"DNA"	""	""
"0000320865"	"00319684"	"1"	"03705"	"03705"	"2015-03-06 09:53:24"	"00085"	"2015-04-13 11:35:47"	"PCR;SEQ"	"DNA"	""	""
"0000320866"	"00319685"	"1"	"00085"	"00085"	"2010-08-02 16:06:45"	"00085"	"2011-08-23 15:03:35"	"PCR;SEQ"	"DNA"	""	""
"0000320867"	"00319686"	"1"	"00085"	"00085"	"2011-05-16 13:58:01"	""	""	"SEQ"	"DNA"	""	""
"0000320868"	"00319687"	"1"	"01819"	"01819"	"2012-05-08 10:34:40"	"00085"	"2012-11-06 16:34:31"	"PCR;SEQ"	"DNA"	""	""
"0000320869"	"00319688"	"1"	"03711"	"03711"	"2015-05-15 07:04:54"	""	""	"SEQ-NG"	"DNA"	""	""
"0000320870"	"00319689"	"1"	"01819"	"01819"	"2012-05-08 10:38:23"	"00085"	"2012-11-06 16:45:40"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320871"	"00319690"	"1"	"03705"	"03705"	"2014-08-04 11:11:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320872"	"00319691"	"1"	"01819"	"00085"	"2009-10-07 15:11:44"	"00085"	"2011-08-23 15:08:31"	"DHPLC;PCR;RT-PCR;SEQ;CSGE;SSCA"	"DNA;RNA"	""	""
"0000320873"	"00319692"	"1"	"03705"	"03705"	"2012-11-02 09:56:06"	"00085"	"2013-04-22 13:45:14"	"PCR;SEQ"	"DNA"	""	""
"0000320874"	"00319693"	"1"	"00085"	"00085"	"2020-01-16 09:35:42"	""	""	"SEQ-NG;PCR"	"DNA"	""	""
"0000320875"	"00319694"	"1"	"03705"	"03705"	"2018-12-19 09:01:24"	""	""	"SEQ-NG"	"DNA"	""	""
"0000320876"	"00319695"	"1"	"03705"	"03705"	"2019-10-22 08:42:24"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320877"	"00319696"	"1"	"03706"	"03706"	"2012-02-29 10:55:53"	""	""	"SEQ"	"DNA"	""	""
"0000320878"	"00319697"	"1"	"01819"	"01819"	"2012-05-08 10:40:01"	"00085"	"2013-03-20 10:31:21"	"PCR;SEQ"	"DNA"	""	""
"0000320879"	"00319698"	"1"	"01819"	"01819"	"2012-05-08 10:41:40"	"00085"	"2013-03-20 10:33:07"	"PCR;SEQ"	"DNA"	""	""
"0000320880"	"00319699"	"1"	"03705"	"03705"	"2014-02-28 13:30:36"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320881"	"00319700"	"1"	"03717"	"03717"	"2020-01-27 20:51:50"	""	""	"SEQ"	"DNA"	""	""
"0000320882"	"00319701"	"1"	"03706"	"03706"	"2011-04-19 11:05:27"	"00085"	"2011-04-19 11:23:46"	"SEQ"	"DNA"	""	""
"0000320883"	"00319702"	"1"	"03705"	"03705"	"2012-11-02 09:58:40"	"00085"	"2013-04-22 13:59:42"	"PCR;SEQ"	"DNA"	""	""
"0000320884"	"00319703"	"1"	"03705"	"03705"	"2014-08-04 11:31:44"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320885"	"00319704"	"1"	"03717"	"03717"	"2017-09-18 17:47:03"	"00085"	"2020-07-01 14:40:43"	"SEQ"	"DNA"	""	""
"0000320886"	"00319705"	"1"	"01819"	"01819"	"2012-05-08 10:43:18"	"00085"	"2013-03-20 10:35:24"	"PCR;SEQ"	"DNA"	""	""
"0000320887"	"00319706"	"1"	"03705"	"03705"	"2012-11-02 10:10:14"	"00085"	"2013-04-22 13:47:00"	"PCR;SEQ"	"DNA"	""	""
"0000320888"	"00319707"	"1"	"00085"	"00085"	"2020-01-16 09:38:14"	""	""	"SEQ-NG;PCR"	"DNA"	""	""
"0000320889"	"00319708"	"1"	"00085"	"00085"	"2009-10-07 14:26:10"	"00085"	"2011-08-23 15:07:52"	"PCR;RT-PCR;SEQ;HD"	"DNA;RNA"	""	""
"0000320890"	"00319709"	"1"	"00085"	"00085"	"2009-10-12 15:02:19"	"00085"	"2011-08-23 15:09:41"	"PAGE;PCR;RT-PCR;HD"	"DNA;RNA"	""	""
"0000320891"	"00319710"	"1"	"00085"	"00085"	"2009-11-10 12:34:27"	"00085"	"2009-11-26 11:41:25"	"?"	"?"	""	""
"0000320892"	"00319711"	"1"	"00085"	"00085"	"2009-10-12 11:13:07"	"00085"	"2011-08-23 15:10:27"	"PCR;SEQ;HD;SSCA"	"DNA;RNA"	""	""
"0000320893"	"00319712"	"1"	"01819"	"01819"	"2012-05-08 10:44:35"	"00085"	"2013-03-20 11:27:48"	"PCR;SEQ"	"DNA"	""	""
"0000320894"	"00319713"	"1"	"01819"	"01819"	"2012-05-08 10:45:58"	"00085"	"2013-03-20 11:28:20"	"PCR;SEQ"	"DNA"	""	""
"0000320895"	"00319714"	"1"	"03705"	"03705"	"2012-11-02 10:13:01"	"00085"	"2013-04-22 13:48:10"	"PCR;SEQ"	"DNA"	""	""
"0000320896"	"00319715"	"1"	"03705"	"03705"	"2012-11-02 10:14:59"	"00085"	"2013-04-22 13:48:56"	"PCR;SEQ"	"DNA"	""	""
"0000320897"	"00319716"	"1"	"03705"	"03705"	"2017-01-26 10:10:24"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320898"	"00319717"	"1"	"00085"	"00085"	"2015-07-27 13:44:04"	""	""	"SEQ-NG"	"DNA"	""	""
"0000320899"	"00319718"	"1"	"00085"	"00085"	"2009-10-06 15:45:03"	"00085"	"2012-04-30 11:54:38"	"PCR;RT-PCR;SEQ;HD"	"DNA;RNA"	""	""
"0000320900"	"00319719"	"1"	"01819"	"01819"	"2012-05-08 13:43:37"	"00085"	"2013-03-20 10:51:08"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320901"	"00319720"	"1"	"00085"	"00085"	"2009-10-12 11:26:05"	"00085"	"2011-08-23 15:11:38"	"PCR;SEQ;HD;SSCA"	"DNA;RNA"	""	""
"0000320902"	"00319721"	"1"	"03705"	"03705"	"2015-03-06 10:09:53"	"00085"	"2015-04-13 11:36:47"	"PCR;SEQ"	"DNA"	""	""
"0000320903"	"00319722"	"1"	"00085"	"00085"	"2009-10-12 11:40:09"	"00085"	"2011-08-23 15:12:20"	"PCR;SEQ;HD;SSCA"	"DNA;RNA"	""	""
"0000320904"	"00319723"	"1"	"00085"	"00085"	"2009-10-12 13:10:55"	"00085"	"2011-08-23 15:13:49"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320905"	"00319724"	"1"	"00085"	"00085"	"2009-10-13 15:45:02"	"00085"	"2011-08-23 15:19:16"	"PCR;SEQ;HD;SSCA"	"DNA;RNA"	""	""
"0000320906"	"00319725"	"1"	"01819"	"01819"	"2012-05-08 10:55:44"	"00085"	"2013-03-20 10:53:08"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320907"	"00319726"	"1"	"03705"	"03705"	"2019-03-24 14:53:59"	""	""	"SEQ-NG"	"DNA"	""	""
"0000320908"	"00319727"	"1"	"01819"	"01819"	"2012-05-08 10:59:54"	"00085"	"2013-03-20 11:29:04"	"PCR;SEQ"	"DNA"	""	""
"0000320909"	"00319728"	"1"	"00085"	"00085"	"2009-11-10 12:39:04"	""	""	"?"	"?"	""	""
"0000320910"	"00319729"	"1"	"03705"	"03705"	"2014-02-26 15:37:58"	"00085"	"2020-02-11 14:27:27"	"PCR;SEQ"	"DNA"	""	""
"0000320911"	"00319730"	"1"	"03711"	"03711"	"2015-05-15 07:07:10"	"00085"	"2019-04-25 10:25:52"	"SEQ-NG"	"DNA"	""	""
"0000320912"	"00319731"	"1"	"03715"	"03715"	"2016-08-22 09:10:30"	"00085"	"2020-02-13 15:18:07"	"?"	"DNA"	""	""
"0000320913"	"00319732"	"1"	"01819"	"01819"	"2012-05-08 13:46:37"	"00085"	"2013-03-20 10:57:58"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320914"	"00319733"	"1"	"00085"	"00085"	"2009-10-12 16:04:40"	"00085"	"2011-08-23 15:19:45"	"PAGE;PCR;RT-PCR;HD"	"DNA;RNA"	""	""
"0000320915"	"00319734"	"1"	"00085"	"00085"	"2009-11-10 12:41:24"	""	""	"?"	"?"	""	""
"0000320916"	"00319735"	"1"	"01819"	"00085"	"2009-10-08 11:51:00"	"00085"	"2011-08-23 15:20:26"	"DHPLC;PCR;RT-PCR;SEQ;CSGE;SSCA"	"DNA;RNA"	""	""
"0000320917"	"00319736"	"1"	"00085"	"00085"	"2009-11-10 12:44:26"	""	""	"?"	"?"	""	""
"0000320918"	"00319737"	"1"	"00085"	"00085"	"2020-03-18 14:27:52"	""	""	"SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000320919"	"00319738"	"1"	"00085"	"00085"	"2020-03-26 15:11:25"	""	""	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000320920"	"00319739"	"1"	"00085"	"00085"	"2009-10-12 11:23:35"	"00085"	"2011-08-23 15:21:07"	"PCR;SEQ;HD;SSCA"	"DNA;RNA"	""	""
"0000320921"	"00319740"	"1"	"00085"	"00085"	"2009-11-10 12:46:12"	""	""	"?"	"?"	""	""
"0000320922"	"00319741"	"1"	"03705"	"03705"	"2012-11-02 10:17:24"	"00085"	"2013-04-22 14:02:00"	"PCR;SEQ"	"DNA"	""	""
"0000320923"	"00319742"	"1"	"00085"	"00085"	"2009-10-12 11:20:19"	"00085"	"2011-08-23 15:21:46"	"PCR;SEQ;HD;SSCA"	"DNA;RNA"	""	""
"0000320924"	"00319743"	"1"	"01819"	"01819"	"2012-05-08 11:01:58"	"00085"	"2013-03-20 11:02:59"	"PCR;SEQ"	"DNA"	""	""
"0000320925"	"00319744"	"1"	"01819"	"00085"	"2009-10-07 14:56:04"	"00085"	"2011-08-23 15:22:30"	"DHPLC;PCR;RT-PCR;SEQ;CSGE;SSCA"	"DNA;RNA"	""	""
"0000320926"	"00319745"	"1"	"03717"	"03717"	"2020-01-29 09:36:16"	""	""	"SEQ"	"DNA"	""	""
"0000320927"	"00319746"	"1"	"01819"	"00085"	"2009-10-07 15:42:41"	"00085"	"2011-08-23 15:23:07"	"DHPLC;PCR;RT-PCR;SEQ;CSGE;SSCA"	"DNA;RNA"	""	""
"0000320928"	"00319747"	"1"	"00085"	"00085"	"2009-11-03 12:06:16"	"00085"	"2012-11-06 16:19:45"	"PCR;RT-PCR"	"DNA;RNA"	""	""
"0000320929"	"00319748"	"1"	"01819"	"00085"	"2009-10-07 14:49:35"	"00085"	"2013-03-20 11:06:05"	"DHPLC;RT-PCR;SEQ;CSGE;SSCA"	"DNA;RNA"	""	""
"0000320930"	"00319749"	"1"	"01819"	"00085"	"2009-10-16 14:30:07"	"00085"	"2011-08-23 15:25:23"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320931"	"00319750"	"1"	"03705"	"03705"	"2015-03-06 10:01:36"	"00085"	"2015-04-13 11:38:25"	"PCR;SEQ"	"DNA"	""	""
"0000320932"	"00319751"	"1"	"01819"	"00085"	"2009-10-07 15:28:57"	"00085"	"2011-08-23 15:26:12"	"DHPLC;PCR;RT-PCR;SEQ;CSGE;SSCA"	"DNA;RNA"	""	""
"0000320933"	"00319752"	"1"	"00085"	"00085"	"2009-11-10 12:53:02"	""	""	"?"	"?"	""	""
"0000320934"	"00319753"	"1"	"00085"	"00085"	"2020-02-13 15:28:44"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320935"	"00319754"	"1"	"03705"	"03705"	"2014-09-19 10:43:37"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320936"	"00319755"	"1"	"01819"	"00085"	"2009-10-08 11:57:08"	"00085"	"2011-08-23 15:26:49"	"DHPLC;PCR;RT-PCR;SEQ;CSGE;SSCA"	"DNA;RNA"	""	""
"0000320937"	"00319756"	"1"	"00085"	"00085"	"2009-10-06 16:33:49"	"00085"	"2011-08-23 15:27:47"	"PCR;RT-PCR;SEQ;HD"	"DNA;RNA"	""	""
"0000320938"	"00319757"	"1"	"03705"	"03705"	"2015-08-25 10:52:57"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320939"	"00319758"	"1"	"01819"	"01819"	"2012-05-08 11:04:28"	"00085"	"2013-03-20 11:10:23"	"PCR;SEQ"	"DNA"	""	""
"0000320940"	"00319759"	"1"	"01819"	"01819"	"2012-05-08 11:05:24"	"00085"	"2013-03-20 11:11:45"	"PCR;SEQ"	"DNA"	""	""
"0000320941"	"00319760"	"1"	"00085"	"00085"	"2009-10-19 13:25:11"	"00085"	"2011-08-23 15:28:37"	"PCR;RT-PCR;SSCA"	"DNA;RNA"	""	""
"0000320942"	"00319761"	"1"	"00085"	"00085"	"2009-10-19 13:23:40"	"00085"	"2011-08-23 15:29:13"	"PCR;RT-PCR;SSCA"	"DNA;RNA"	""	""
"0000320943"	"00319762"	"1"	"03717"	"03717"	"2017-09-18 17:48:32"	""	""	"SEQ"	"DNA"	""	""
"0000320944"	"00319763"	"1"	"03705"	"03705"	"2018-12-20 08:14:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000320945"	"00319764"	"1"	"01819"	"01819"	"2012-05-08 11:07:19"	"00085"	"2013-03-20 11:13:01"	"PCR;SEQ"	"DNA"	""	""
"0000320946"	"00319765"	"1"	"03711"	"03711"	"2015-05-15 07:29:13"	"00085"	"2016-08-02 11:26:03"	"SEQ-NG"	"DNA"	""	""
"0000320947"	"00319766"	"1"	"00085"	"00085"	"2009-11-10 13:04:44"	""	""	"?"	"?"	""	""
"0000320948"	"00319767"	"1"	"03711"	"03711"	"2015-05-15 07:09:01"	"00085"	"2016-08-02 13:12:21"	"SEQ-NG"	"DNA"	""	""
"0000320949"	"00319768"	"1"	"01563"	"01563"	"2014-05-07 10:42:48"	"00085"	"2015-04-13 09:41:05"	"PCR;SEQ"	"DNA"	""	""
"0000320950"	"00319769"	"1"	"03705"	"03705"	"2015-12-22 14:04:30"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320951"	"00319770"	"1"	"01819"	"00085"	"2012-02-06 11:56:40"	"00085"	"2012-02-06 13:05:16"	"RT-PCR;SEQ"	"RNA"	""	""
"0000320952"	"00319771"	"1"	"00085"	"00085"	"2009-11-10 13:07:41"	""	""	"?"	"?"	""	""
"0000320953"	"00319772"	"1"	"00085"	"00085"	"2009-10-16 12:37:24"	"00085"	"2011-08-23 15:31:34"	"PAGE;PCR;RT-PCR;HD"	"DNA;RNA"	""	""
"0000320954"	"00319773"	"1"	"01819"	"00085"	"2014-09-15 16:05:22"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320955"	"00319774"	"1"	"03705"	"03705"	"2012-11-02 10:19:49"	"00085"	"2013-04-22 13:50:02"	"PCR;SEQ"	"DNA"	""	""
"0000320956"	"00319775"	"1"	"01819"	"01819"	"2012-05-08 11:08:38"	"00085"	"2013-03-20 11:14:59"	"PCR;SEQ"	"DNA"	""	""
"0000320957"	"00319776"	"1"	"03705"	"03705"	"2017-07-13 07:52:43"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320958"	"00319777"	"1"	"03717"	"03717"	"2020-01-29 09:34:38"	""	""	"SEQ"	"DNA"	""	""
"0000320959"	"00319778"	"1"	"01819"	"01819"	"2012-05-08 11:09:57"	"00085"	"2013-03-20 11:17:10"	"PCR;SEQ"	"DNA"	""	""
"0000320960"	"00319779"	"1"	"00085"	"00085"	"2009-10-13 10:40:56"	"00085"	"2011-08-23 15:32:12"	"PCR;SEQ;HD"	"DNA"	""	""
"0000320961"	"00319780"	"1"	"00085"	"00085"	"2009-10-07 12:13:49"	"00085"	"2011-08-23 15:32:56"	"PCR;RT-PCR;SEQ;HD"	"DNA;RNA"	""	""
"0000320962"	"00319781"	"1"	"03705"	"03705"	"2012-11-02 10:24:35"	"00085"	"2013-04-22 13:51:35"	"PCR;SEQ"	"DNA"	""	""
"0000320963"	"00319782"	"1"	"03705"	"03705"	"2014-08-04 11:05:59"	""	""	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000320964"	"00319783"	"1"	"01819"	"00085"	"2014-09-15 16:01:12"	"00085"	"2014-09-15 16:08:30"	"PCR;SEQ"	"DNA"	""	""
"0000320965"	"00319784"	"1"	"01819"	"00085"	"2014-09-15 16:02:25"	"00085"	"2014-09-15 16:09:13"	"PCR;SEQ"	"DNA"	""	""
"0000320966"	"00319785"	"1"	"03705"	"03705"	"2012-11-02 10:28:33"	"00085"	"2013-04-22 13:52:31"	"PCR;SEQ"	"DNA"	""	""
"0000320967"	"00319786"	"1"	"03717"	"03717"	"2020-01-27 20:53:42"	""	""	"SEQ"	"DNA"	""	""
"0000320968"	"00319787"	"1"	"01819"	"01819"	"2012-05-08 11:11:06"	"00085"	"2013-03-20 11:18:56"	"PCR;SEQ"	"DNA"	""	""
"0000320969"	"00319788"	"1"	"03705"	"03705"	"2015-08-25 13:50:04"	"00085"	"2015-09-02 11:05:23"	"MLPA;PCR;SEQ"	"DNA"	""	""
"0000320970"	"00319789"	"1"	"00085"	"00085"	"2009-11-10 13:09:21"	""	""	"?"	"?"	""	""
"0000320971"	"00319790"	"1"	"00085"	"00085"	"2009-11-10 13:10:35"	""	""	"?"	"?"	""	""
"0000320972"	"00319791"	"1"	"00085"	"00085"	"2009-11-10 13:12:01"	"00085"	"2009-11-27 08:34:05"	"?"	"?"	""	""
"0000320973"	"00319792"	"1"	"00085"	"00085"	"2009-11-10 13:13:21"	""	""	"?"	"?"	""	""
"0000320974"	"00319793"	"1"	"00085"	"00085"	"2009-10-13 11:03:39"	"00085"	"2011-08-23 15:34:07"	"PCR;SEQ;HD"	"DNA"	""	""
"0000320975"	"00319794"	"1"	"00085"	"00085"	"2009-11-10 13:14:50"	""	""	"?"	"?"	""	""
"0000320976"	"00319795"	"1"	"00085"	"00085"	"2009-11-10 13:16:49"	"00085"	"2009-11-27 08:42:29"	"?"	"?"	""	""
"0000320977"	"00319796"	"1"	"00085"	"00085"	"2009-11-10 13:21:31"	""	""	"?"	"?"	""	""
"0000320978"	"00319797"	"1"	"00085"	"00085"	"2009-11-10 13:22:53"	""	""	"?"	"?"	""	""
"0000320979"	"00319798"	"1"	"00085"	"00085"	"2020-02-13 14:19:01"	"00085"	"2020-03-26 15:13:21"	"SEQ-NG"	"DNA"	""	""
"0000320980"	"00319799"	"1"	"00085"	"00085"	"2020-03-26 15:09:09"	""	""	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000320981"	"00319800"	"1"	"03705"	"03705"	"2018-06-25 15:31:21"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000320982"	"00319801"	"1"	"01819"	"01819"	"2012-05-08 11:12:32"	"00085"	"2013-03-20 11:21:19"	"PCR;SEQ"	"DNA"	""	""
"0000320983"	"00319802"	"1"	"00085"	"00085"	"2020-03-27 12:12:38"	"00085"	"2020-07-01 15:35:40"	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000320984"	"00319803"	"1"	"00085"	"00085"	"2020-01-29 10:32:41"	"00085"	"2020-01-29 10:34:07"	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000320985"	"00319804"	"1"	"00085"	"00085"	"2009-10-12 14:29:24"	"00085"	"2011-08-23 15:33:31"	"PAGE;PCR;SEQ;CSGE;HD"	"DNA;RNA"	""	""
"0000320986"	"00319805"	"1"	"00085"	"00085"	"2009-11-10 13:25:01"	""	""	"?"	"?"	""	""
"0000320987"	"00319806"	"1"	"03705"	"03705"	"2012-11-02 10:32:35"	"00085"	"2013-04-22 13:53:31"	"PCR;SEQ"	"DNA"	""	""
"0000320988"	"00319807"	"1"	"01819"	"01819"	"2012-05-08 11:13:56"	"00085"	"2013-03-20 11:22:51"	"PCR;SEQ"	"DNA"	""	""
"0000320989"	"00319808"	"1"	"00085"	"00085"	"2009-10-06 16:40:00"	"00085"	"2011-08-23 15:35:22"	"PCR;RT-PCR;SEQ;HD"	"DNA;RNA"	""	""
"0000320990"	"00319809"	"1"	"00085"	"00085"	"2009-11-03 12:14:51"	"00085"	"2012-11-06 16:22:56"	"PCR;RT-PCR"	"DNA;RNA"	""	""
"0000320991"	"00319810"	"1"	"00085"	"00085"	"2009-10-19 16:14:50"	"00085"	"2011-08-23 15:37:21"	"PAGE;PCR"	"DNA"	""	""
"0000320992"	"00319811"	"1"	"00085"	"00085"	"2009-10-19 15:44:36"	"00085"	"2011-08-23 15:41:32"	"PAGE;PCR"	"DNA"	""	""
"0000320993"	"00319812"	"1"	"00085"	"00085"	"2009-10-19 15:49:20"	"00085"	"2011-08-23 15:40:47"	"PAGE;PCR"	"DNA"	""	""
"0000320994"	"00319813"	"1"	"00085"	"00085"	"2009-10-19 15:52:40"	"00085"	"2011-08-23 15:42:12"	"PAGE;PCR"	"DNA"	""	""
"0000320995"	"00319814"	"1"	"00085"	"00085"	"2009-10-19 15:58:11"	"00085"	"2011-08-23 15:42:43"	"PAGE;PCR"	"DNA"	""	""
"0000320996"	"00319815"	"1"	"00085"	"00085"	"2009-10-19 16:00:19"	"00085"	"2011-08-23 15:43:17"	"PAGE;PCR"	"DNA"	""	""
"0000321113"	"00319933"	"1"	"03701"	"03701"	"2020-11-11 12:24:50"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES."
"0000321173"	"00319993"	"1"	"01164"	"01164"	"2020-11-12 16:19:20"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000334729"	"00333503"	"1"	"04004"	"04004"	"2021-02-26 11:54:03"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335014"	"00333788"	"1"	"04004"	"04004"	"2021-02-26 12:32:14"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335015"	"00333789"	"1"	"04004"	"04004"	"2021-02-26 12:45:35"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335016"	"00333790"	"1"	"04004"	"04004"	"2021-02-26 13:05:13"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335017"	"00333791"	"1"	"04004"	"04004"	"2021-02-26 13:24:27"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335018"	"00333792"	"1"	"04004"	"04004"	"2021-02-26 13:36:37"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335019"	"00333793"	"1"	"04004"	"04004"	"2021-02-26 13:50:03"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335020"	"00333794"	"1"	"04004"	"04004"	"2021-02-26 13:58:13"	""	""	"SEQ"	"DNA"	""	""
"0000335021"	"00333795"	"1"	"04004"	"04004"	"2021-02-26 14:07:18"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335022"	"00333796"	"1"	"04004"	"04004"	"2021-02-26 14:27:09"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335023"	"00333797"	"1"	"04004"	"04004"	"2021-02-26 14:32:49"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335024"	"00333798"	"1"	"04004"	"04004"	"2021-02-26 14:58:03"	""	""	"SEQ"	"DNA"	""	""
"0000335025"	"00333799"	"1"	"04004"	"04004"	"2021-02-26 15:01:44"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335026"	"00333800"	"1"	"04004"	"04004"	"2021-02-26 15:05:11"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335027"	"00333801"	"1"	"04004"	"04004"	"2021-02-26 15:08:31"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335028"	"00333802"	"1"	"04004"	"04004"	"2021-02-26 15:19:20"	""	""	"SEQ"	"DNA"	""	""
"0000335029"	"00333803"	"1"	"04004"	"04004"	"2021-02-26 15:23:44"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335030"	"00333804"	"1"	"04004"	"04004"	"2021-02-26 15:32:52"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335749"	"00334520"	"1"	"04004"	"04004"	"2021-03-01 10:51:07"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335750"	"00334521"	"1"	"04004"	"04004"	"2021-03-01 10:55:08"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335752"	"00334522"	"1"	"04004"	"04004"	"2021-03-01 10:58:35"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335759"	"00334527"	"1"	"04004"	"04004"	"2021-03-01 12:02:00"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335779"	"00334550"	"1"	"04004"	"04004"	"2021-03-01 15:10:32"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335780"	"00334551"	"1"	"04004"	"04004"	"2021-03-01 15:13:29"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335781"	"00334552"	"1"	"04004"	"04004"	"2021-03-01 15:28:06"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335783"	"00334554"	"1"	"04004"	"04004"	"2021-03-01 15:34:32"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335784"	"00334555"	"1"	"04004"	"04004"	"2021-03-01 15:42:39"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335805"	"00334576"	"1"	"04004"	"04004"	"2021-03-01 15:52:17"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335806"	"00334577"	"1"	"04004"	"04004"	"2021-03-01 15:55:32"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335807"	"00334578"	"1"	"04004"	"04004"	"2021-03-01 16:52:28"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335808"	"00334579"	"1"	"04004"	"04004"	"2021-03-01 16:54:31"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000335809"	"00334580"	"1"	"04004"	"04004"	"2021-03-01 16:57:35"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000336035"	"00334806"	"1"	"04004"	"04004"	"2021-03-01 20:29:19"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000336036"	"00334807"	"1"	"04004"	"04004"	"2021-03-01 20:32:34"	""	""	"SEQ"	"DNA"	""	""
"0000336038"	"00334809"	"1"	"04004"	"04004"	"2021-03-01 20:35:26"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000336039"	"00334810"	"1"	"04004"	"04004"	"2021-03-01 20:38:13"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000336040"	"00334811"	"1"	"04004"	"04004"	"2021-03-01 20:41:21"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000336041"	"00334812"	"1"	"04004"	"04004"	"2021-03-01 20:45:03"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000336042"	"00334813"	"1"	"04004"	"04004"	"2021-03-01 20:50:06"	""	""	"SEQ"	"DNA"	""	""
"0000336043"	"00334814"	"1"	"04004"	"04004"	"2021-03-01 20:52:40"	""	""	"SEQ"	"DNA"	""	""
"0000336045"	"00334816"	"1"	"04004"	"04004"	"2021-03-01 20:55:39"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000336046"	"00334817"	"1"	"04004"	"04004"	"2021-03-01 20:58:46"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000336047"	"00334819"	"1"	"04004"	"04004"	"2021-03-01 21:03:27"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000336049"	"00334820"	"1"	"04004"	"04004"	"2021-03-01 21:06:27"	""	""	"SEQ"	"DNA"	""	""
"0000336050"	"00334821"	"1"	"04004"	"04004"	"2021-03-01 21:10:38"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000364110"	"00362882"	"1"	"04004"	"04004"	"2021-04-23 19:00:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000364111"	"00362883"	"1"	"04004"	"04004"	"2021-04-23 19:07:41"	""	""	"SEQ-NG"	"DNA"	""	""
"0000364112"	"00362884"	"1"	"04004"	"04004"	"2021-04-23 19:11:40"	""	""	"SEQ-NG"	"DNA"	""	""
"0000364113"	"00362885"	"1"	"04004"	"04004"	"2021-04-23 19:13:49"	""	""	"SEQ-NG"	"DNA"	""	""
"0000376406"	"00375212"	"1"	"01164"	"01164"	"2021-05-31 12:06:01"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000386782"	"00385553"	"1"	"02544"	"02544"	"2021-10-13 09:20:09"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000389509"	"00388269"	"1"	"00000"	"03840"	"2021-11-03 14:14:26"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted NGS: gene panel of several extracellular-matrix (ECM)-related genes"
"0000404051"	"00402810"	"1"	"03717"	"03717"	"2022-02-10 20:15:51"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000404052"	"00402811"	"1"	"03717"	"03717"	"2022-02-10 20:31:46"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000406172"	"00404934"	"1"	"02343"	"02343"	"2022-03-10 21:28:56"	""	""	"MLPA"	"DNA"	"Blood"	""
"0000406176"	"00404938"	"1"	"02343"	"02343"	"2022-03-10 22:02:05"	""	""	"MLPA"	"DNA"	"Blood, DNA from skin"	""
"0000412400"	"00411135"	"1"	"04305"	"04305"	"2022-06-02 02:05:40"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000418304"	"00417024"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418310"	"00417030"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418320"	"00417040"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418321"	"00417041"	"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"	""
"0000418328"	"00417048"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418330"	"00417050"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418332"	"00417052"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418334"	"00417054"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418335"	"00417055"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418338"	"00417058"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418340"	"00417060"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418346"	"00417066"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418348"	"00417068"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418352"	"00417072"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418353"	"00417073"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418358"	"00417078"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418375"	"00417095"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418382"	"00417102"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418397"	"00417117"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418398"	"00417118"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418400"	"00417120"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418407"	"00417127"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418418"	"00417138"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418420"	"00417140"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418424"	"00417144"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418425"	"00417145"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418436"	"00417156"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418438"	"00417158"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000420805"	"00419501"	"1"	"02300"	"00006"	"2022-10-20 16:24:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000426103"	"00424791"	"1"	"04419"	"04419"	"2022-11-22 02:02:20"	""	""	"SEQ-NG"	"DNA"	"Peripheral blood"	""
"0000426210"	"00424897"	"1"	"00006"	"00006"	"2022-11-22 18:10:56"	""	""	"SEQ"	"DNA"	""	""
"0000427795"	"00426475"	"1"	"02529"	"02529"	"2022-11-30 17:39:38"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000429670"	"00428259"	"1"	"04446"	"04446"	"2022-12-28 02:31:40"	""	""	"SEQ-NG"	"DNA"	"blood"	"WES  - \"aortopathy_ connective tissue disorders ( PanelApp Australia)"
"0000431705"	"00430291"	"1"	"04419"	"04419"	"2023-01-17 07:09:37"	""	""	"arrayCGH"	"DNA"	"Peripheral blood"	""
"0000432554"	"00431143"	"1"	"04419"	"04419"	"2023-01-29 22:53:06"	""	""	"SEQ"	"DNA"	"Peripheral blood"	"WES"
"0000433231"	"00431792"	"1"	"04136"	"00006"	"2023-02-16 14:19:17"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000433232"	"00431793"	"1"	"04136"	"00006"	"2023-02-16 14:19:17"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000433234"	"00431795"	"1"	"04136"	"00006"	"2023-02-16 14:19:17"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000433238"	"00431799"	"1"	"04136"	"00006"	"2023-02-16 14:19:17"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000433244"	"00431805"	"1"	"04136"	"00006"	"2023-02-16 14:19:17"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000433256"	"00431817"	"1"	"04136"	"00006"	"2023-02-16 14:19:17"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000433260"	"00431821"	"1"	"04136"	"00006"	"2023-02-16 14:19:17"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000436367"	"00434894"	"1"	"04419"	"04419"	"2023-04-11 03:05:07"	""	""	"MIP;SEQ-NG-I"	"DNA"	"Peripheral blood"	"WES analysis on 22 families, 1-5 individuals/family"
"0000436368"	"00434895"	"1"	"04419"	"04419"	"2023-04-11 03:17:26"	""	""	"MIP;SEQ-NG-I"	"DNA"	"Peripheral blood"	"WES analysis on 22 families, 1-5 individuals/family"
"0000436370"	"00434897"	"1"	"04419"	"04419"	"2023-04-11 03:41:14"	""	""	"MIP;SEQ-NG-I"	"DNA"	"Peripheral blood"	"WES analysis on 22 families, 1-5 individuals/family"
"0000436472"	"00434999"	"1"	"04419"	"04419"	"2023-04-18 22:48:23"	""	""	"MIP;SEQ-NG-I"	"DNA"	"Peripheral blood"	"WES analysis on 22 families, 1-5 individuals/family"
"0000436473"	"00435000"	"1"	"04419"	"04419"	"2023-04-18 23:25:55"	""	""	"MIP;SEQ-NG-I"	"DNA"	"Peripheral blood"	"WES analysis on 22 families, 1-5 individuals/family"
"0000436474"	"00435001"	"1"	"04419"	"04419"	"2023-04-19 02:05:43"	""	""	"SEQ;SEQ-NG-I"	"DNA"	"Peripheral blood"	""
"0000454546"	"00452942"	"1"	"04693"	"04693"	"2024-08-06 18:51:59"	""	""	"MLPA;SEQ;SEQ-NG"	"DNA"	""	""
"0000454554"	"00452943"	"1"	"04693"	"04693"	"2024-08-07 15:20:26"	"04693"	"2024-08-15 14:01:43"	"?"	"DNA"	""	"Sequencing + del/dup analysis methodology and other aortopathy genes tested not stated."
"0000455343"	"00453731"	"1"	"00006"	"00006"	"2024-09-11 19:50:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000455344"	"00453732"	"1"	"00006"	"00006"	"2024-09-11 19:50:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000455345"	"00453733"	"1"	"00006"	"00006"	"2024-09-11 19:50:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000455346"	"00453734"	"1"	"00006"	"00006"	"2024-09-11 19:50:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000455379"	"00453767"	"1"	"00006"	"00006"	"2024-09-11 19:50:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000455391"	"00453779"	"1"	"00006"	"00006"	"2024-09-11 19:50:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000455392"	"00453780"	"1"	"00006"	"00006"	"2024-09-11 19:50:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000462566"	"00460934"	"1"	"04796"	"00006"	"2024-11-05 16:15:00"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	"fibroblasts"	"mRNA splicing analysis on tissue"
"0000462607"	"00460975"	"1"	"04796"	"00006"	"2024-11-05 16:15:00"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	"fibroblasts"	"mRNA splicing analysis on tissue"
"0000467834"	"00466176"	"1"	"03820"	"03820"	"2025-08-06 14:59:17"	""	""	"SEQ-NG"	"DNA"	"blood"	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 400
"{{screeningid}}"	"{{geneid}}"
"0000133642"	"COL5A1"
"0000133643"	"COL5A1"
"0000307302"	"COL5A1"
"0000320727"	"COL5A1"
"0000320728"	"COL5A1"
"0000320729"	"COL5A1"
"0000320730"	"COL5A1"
"0000320731"	"COL5A1"
"0000320732"	"COL5A1"
"0000320733"	"COL5A1"
"0000320734"	"COL5A1"
"0000320735"	"COL5A1"
"0000320736"	"COL5A1"
"0000320737"	"COL5A1"
"0000320738"	"COL5A1"
"0000320739"	"COL5A1"
"0000320740"	"COL5A1"
"0000320741"	"COL5A1"
"0000320742"	"COL5A1"
"0000320743"	"COL5A1"
"0000320744"	"COL5A1"
"0000320745"	"COL5A1"
"0000320746"	"COL5A1"
"0000320747"	"COL5A1"
"0000320748"	"COL5A1"
"0000320749"	"COL5A1"
"0000320750"	"COL5A1"
"0000320751"	"COL5A1"
"0000320752"	"COL5A1"
"0000320753"	"COL5A1"
"0000320754"	"COL5A1"
"0000320755"	"COL5A1"
"0000320756"	"COL5A1"
"0000320757"	"COL5A1"
"0000320758"	"COL5A1"
"0000320759"	"COL5A1"
"0000320760"	"COL5A1"
"0000320761"	"COL5A1"
"0000320762"	"COL5A1"
"0000320763"	"COL5A1"
"0000320764"	"COL5A1"
"0000320765"	"COL5A1"
"0000320766"	"COL5A1"
"0000320767"	"COL5A1"
"0000320768"	"COL5A1"
"0000320769"	"COL5A1"
"0000320770"	"COL5A1"
"0000320771"	"COL5A1"
"0000320772"	"COL5A1"
"0000320773"	"COL5A1"
"0000320774"	"COL5A1"
"0000320775"	"COL5A1"
"0000320776"	"COL5A1"
"0000320777"	"COL5A1"
"0000320778"	"COL5A1"
"0000320779"	"COL5A1"
"0000320780"	"COL5A1"
"0000320781"	"COL5A1"
"0000320782"	"COL5A1"
"0000320783"	"COL5A1"
"0000320784"	"COL5A1"
"0000320785"	"COL5A1"
"0000320786"	"COL5A1"
"0000320787"	"COL5A1"
"0000320788"	"COL5A1"
"0000320789"	"COL5A1"
"0000320790"	"COL5A1"
"0000320791"	"COL5A1"
"0000320792"	"COL5A1"
"0000320793"	"COL5A1"
"0000320794"	"COL5A1"
"0000320795"	"COL5A1"
"0000320796"	"COL5A1"
"0000320797"	"COL5A1"
"0000320798"	"COL5A1"
"0000320799"	"COL5A1"
"0000320800"	"COL5A1"
"0000320801"	"COL5A1"
"0000320802"	"COL5A1"
"0000320803"	"COL5A1"
"0000320804"	"COL5A1"
"0000320805"	"COL5A1"
"0000320806"	"COL5A1"
"0000320807"	"COL5A1"
"0000320808"	"COL5A1"
"0000320809"	"COL5A1"
"0000320810"	"COL5A1"
"0000320811"	"COL5A1"
"0000320812"	"COL5A1"
"0000320813"	"COL5A1"
"0000320814"	"COL5A1"
"0000320815"	"COL5A1"
"0000320816"	"COL5A1"
"0000320817"	"COL5A1"
"0000320818"	"COL5A1"
"0000320819"	"COL5A1"
"0000320820"	"COL5A1"
"0000320821"	"COL5A1"
"0000320822"	"COL5A1"
"0000320823"	"COL5A1"
"0000320824"	"COL5A1"
"0000320825"	"COL5A1"
"0000320826"	"COL5A1"
"0000320827"	"COL5A1"
"0000320828"	"COL5A1"
"0000320829"	"COL5A1"
"0000320830"	"COL5A1"
"0000320831"	"COL5A1"
"0000320832"	"COL5A1"
"0000320833"	"COL5A1"
"0000320834"	"COL5A1"
"0000320835"	"COL5A1"
"0000320836"	"COL5A1"
"0000320837"	"COL5A1"
"0000320838"	"COL5A1"
"0000320839"	"COL5A1"
"0000320840"	"COL5A1"
"0000320841"	"COL5A1"
"0000320842"	"COL5A1"
"0000320843"	"COL5A1"
"0000320844"	"COL5A1"
"0000320845"	"COL5A1"
"0000320846"	"COL5A1"
"0000320847"	"COL5A1"
"0000320848"	"COL5A1"
"0000320849"	"COL5A1"
"0000320850"	"COL5A1"
"0000320851"	"COL5A1"
"0000320852"	"COL5A1"
"0000320853"	"COL5A1"
"0000320854"	"COL5A1"
"0000320855"	"COL5A1"
"0000320856"	"COL5A1"
"0000320857"	"COL5A1"
"0000320858"	"COL5A1"
"0000320859"	"COL5A1"
"0000320860"	"COL5A1"
"0000320861"	"COL5A1"
"0000320862"	"COL5A1"
"0000320863"	"COL5A1"
"0000320864"	"COL5A1"
"0000320865"	"COL5A1"
"0000320866"	"COL5A1"
"0000320867"	"COL5A1"
"0000320868"	"COL5A1"
"0000320869"	"COL5A1"
"0000320870"	"COL5A1"
"0000320871"	"COL5A1"
"0000320872"	"COL5A1"
"0000320873"	"COL5A1"
"0000320874"	"COL5A1"
"0000320875"	"COL5A1"
"0000320876"	"COL5A1"
"0000320877"	"COL5A1"
"0000320878"	"COL5A1"
"0000320879"	"COL5A1"
"0000320880"	"COL5A1"
"0000320881"	"COL5A1"
"0000320882"	"COL5A1"
"0000320883"	"COL5A1"
"0000320884"	"COL5A1"
"0000320885"	"COL5A1"
"0000320886"	"COL5A1"
"0000320887"	"COL5A1"
"0000320888"	"COL5A1"
"0000320889"	"COL5A1"
"0000320890"	"COL5A1"
"0000320891"	"COL5A1"
"0000320892"	"COL5A1"
"0000320893"	"COL5A1"
"0000320894"	"COL5A1"
"0000320895"	"COL5A1"
"0000320896"	"COL5A1"
"0000320897"	"COL5A1"
"0000320898"	"COL5A1"
"0000320899"	"COL5A1"
"0000320900"	"COL5A1"
"0000320901"	"COL5A1"
"0000320902"	"COL5A1"
"0000320903"	"COL5A1"
"0000320904"	"COL5A1"
"0000320905"	"COL5A1"
"0000320906"	"COL5A1"
"0000320907"	"COL5A1"
"0000320908"	"COL5A1"
"0000320909"	"COL5A1"
"0000320910"	"COL5A1"
"0000320911"	"COL5A1"
"0000320912"	"COL5A1"
"0000320913"	"COL5A1"
"0000320914"	"COL5A1"
"0000320915"	"COL5A1"
"0000320916"	"COL5A1"
"0000320917"	"COL5A1"
"0000320918"	"COL5A1"
"0000320919"	"COL5A1"
"0000320920"	"COL5A1"
"0000320921"	"COL5A1"
"0000320922"	"COL5A1"
"0000320923"	"COL5A1"
"0000320924"	"COL5A1"
"0000320925"	"COL5A1"
"0000320926"	"COL5A1"
"0000320927"	"COL5A1"
"0000320928"	"COL5A1"
"0000320929"	"COL5A1"
"0000320930"	"COL5A1"
"0000320931"	"COL5A1"
"0000320932"	"COL5A1"
"0000320933"	"COL5A1"
"0000320934"	"COL5A1"
"0000320935"	"COL5A1"
"0000320936"	"COL5A1"
"0000320937"	"COL5A1"
"0000320938"	"COL5A1"
"0000320939"	"COL5A1"
"0000320940"	"COL5A1"
"0000320941"	"COL5A1"
"0000320942"	"COL5A1"
"0000320943"	"COL5A1"
"0000320944"	"COL5A1"
"0000320945"	"COL5A1"
"0000320946"	"COL5A1"
"0000320947"	"COL5A1"
"0000320948"	"COL5A1"
"0000320949"	"COL5A1"
"0000320950"	"COL5A1"
"0000320951"	"COL5A1"
"0000320952"	"COL5A1"
"0000320953"	"COL5A1"
"0000320954"	"COL5A1"
"0000320955"	"COL5A1"
"0000320956"	"COL5A1"
"0000320957"	"COL5A1"
"0000320958"	"COL5A1"
"0000320959"	"COL5A1"
"0000320960"	"COL5A1"
"0000320961"	"COL5A1"
"0000320962"	"COL5A1"
"0000320963"	"COL5A1"
"0000320964"	"COL5A1"
"0000320965"	"COL5A1"
"0000320966"	"COL5A1"
"0000320967"	"COL5A1"
"0000320968"	"COL5A1"
"0000320969"	"COL5A1"
"0000320970"	"COL5A1"
"0000320971"	"COL5A1"
"0000320972"	"COL5A1"
"0000320973"	"COL5A1"
"0000320974"	"COL5A1"
"0000320975"	"COL5A1"
"0000320976"	"COL5A1"
"0000320977"	"COL5A1"
"0000320978"	"COL5A1"
"0000320979"	"COL5A1"
"0000320980"	"COL5A1"
"0000320981"	"COL5A1"
"0000320982"	"COL5A1"
"0000320983"	"COL5A1"
"0000320984"	"COL5A1"
"0000320985"	"COL5A1"
"0000320986"	"COL5A1"
"0000320987"	"COL5A1"
"0000320988"	"COL5A1"
"0000320989"	"COL5A1"
"0000320990"	"COL5A1"
"0000320991"	"COL5A1"
"0000320992"	"COL5A1"
"0000320993"	"COL5A1"
"0000320994"	"COL5A1"
"0000320995"	"COL5A1"
"0000320996"	"COL5A1"
"0000321173"	"COL5A1"
"0000334729"	"COL5A1"
"0000334729"	"COL5A2"
"0000335014"	"COL5A1"
"0000335014"	"COL5A2"
"0000335015"	"COL5A1"
"0000335015"	"COL5A2"
"0000335016"	"COL5A1"
"0000335016"	"COL5A2"
"0000335017"	"COL5A1"
"0000335017"	"COL5A2"
"0000335018"	"COL5A1"
"0000335018"	"COL5A2"
"0000335019"	"COL5A1"
"0000335019"	"COL5A2"
"0000335020"	"COL5A1"
"0000335021"	"COL5A1"
"0000335021"	"COL5A2"
"0000335022"	"COL5A1"
"0000335022"	"COL5A2"
"0000335023"	"COL5A1"
"0000335023"	"COL5A2"
"0000335024"	"COL5A1"
"0000335024"	"COL5A2"
"0000335025"	"COL5A1"
"0000335025"	"COL5A2"
"0000335026"	"COL5A1"
"0000335026"	"COL5A2"
"0000335027"	"COL5A1"
"0000335027"	"COL5A2"
"0000335028"	"COL5A1"
"0000335028"	"COL5A2"
"0000335029"	"COL5A1"
"0000335029"	"COL5A2"
"0000335030"	"COL5A1"
"0000335030"	"COL5A2"
"0000335749"	"COL5A1"
"0000335749"	"COL5A2"
"0000335750"	"COL5A1"
"0000335750"	"COL5A2"
"0000335752"	"COL5A1"
"0000335752"	"COL5A2"
"0000335759"	"COL5A1"
"0000335759"	"COL5A2"
"0000335779"	"COL5A1"
"0000335779"	"COL5A2"
"0000335780"	"COL5A1"
"0000335780"	"COL5A2"
"0000335781"	"COL5A1"
"0000335781"	"COL5A2"
"0000335783"	"COL5A1"
"0000335783"	"COL5A2"
"0000335784"	"COL5A1"
"0000335784"	"COL5A2"
"0000335805"	"COL5A1"
"0000335805"	"COL5A2"
"0000335806"	"COL5A1"
"0000335806"	"COL5A2"
"0000335807"	"COL5A1"
"0000335807"	"COL5A2"
"0000335808"	"COL5A1"
"0000335808"	"COL5A2"
"0000335809"	"COL5A1"
"0000335809"	"COL5A2"
"0000336035"	"COL5A1"
"0000336035"	"COL5A2"
"0000336036"	"COL5A1"
"0000336038"	"COL5A1"
"0000336039"	"COL5A1"
"0000336039"	"COL5A2"
"0000336040"	"COL5A1"
"0000336040"	"COL5A2"
"0000336041"	"COL5A1"
"0000336041"	"COL5A2"
"0000336042"	"COL5A1"
"0000336043"	"COL5A1"
"0000336045"	"COL5A1"
"0000336045"	"COL5A2"
"0000336046"	"COL5A1"
"0000336046"	"COL5A2"
"0000336047"	"COL5A1"
"0000336047"	"COL5A2"
"0000336049"	"COL5A1"
"0000336050"	"COL5A1"
"0000336050"	"COL5A2"
"0000364110"	"COL5A1"
"0000364111"	"COL5A1"
"0000364112"	"COL5A1"
"0000364113"	"COL5A1"
"0000386782"	"COL5A1"
"0000389509"	"COL5A1"
"0000404051"	"COL5A1"
"0000404052"	"COL5A1"
"0000406172"	"COL5A1"
"0000406176"	"COL5A1"
"0000412400"	"ADAMTSL2"
"0000412400"	"B3GALT6"
"0000412400"	"B4GALT7"
"0000412400"	"CHST14"
"0000412400"	"COL10A1"
"0000412400"	"COL11A2"
"0000412400"	"COL12A1"
"0000412400"	"COL13A1"
"0000412400"	"COL15A1"
"0000412400"	"COL5A2"
"0000412400"	"DSE"
"0000412400"	"FKBP14"
"0000412400"	"PLOD1"
"0000412400"	"TNXB"
"0000426103"	"COL5A1"
"0000426210"	"COL5A1"
"0000427795"	"COL5A1"
"0000429670"	"COL5A1"
"0000431705"	"COL5A1"
"0000432554"	"COL5A1"
"0000436367"	"COL5A1"
"0000436368"	"COL5A1"
"0000436370"	"COL5A1"
"0000436472"	"COL5A1"
"0000436473"	"COL5A1"
"0000436474"	"C1R"
"0000436474"	"COL5A1"
"0000454554"	"AEBP1"
"0000454554"	"COL3A1"
"0000454554"	"COL5A1"
"0000462566"	"COL5A1"
"0000462607"	"COL5A1"


## 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 = 976
"{{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}}"
"0000096566"	"0"	"50"	"9"	"137593123"	"137593123"	"subst"	"0.000366458"	"01602"	"COL5A1_000438"	"g.137593123G>A"	""	"{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}"	""	""	""	"Germline"	"?"	"rs142890619"	"0"	""	""	"g.134701277G>A"	""	"VUS"	""
"0000169347"	"0"	"70"	"9"	"137582793"	"137582793"	"subst"	"2.44061E-5"	"00587"	"COL5A1_000439"	"g.137582793C>T"	""	"{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}"	""	"NM_000093.4(COL5A1):c.145C>T p.(His49Tyr)"	"variant could not be associated with disease phenotype"	"Germline"	""	""	"0"	""	""	"g.134690947C>T"	""	"likely pathogenic"	""
"0000222894"	"1"	"99"	"9"	"137686903"	"137686903"	"subst"	"4.06782E-6"	"00006"	"COL5A1_000437"	"g.137686903T>G"	""	"{PMID:Burrows 1998:09683580}"	""	"IVS32:T-25G"	"mapped by linkage analysis; branchpoint variant"	"Germline"	"yes"	""	"0"	""	""	"g.134795057T>G"	""	"pathogenic"	""
"0000222895"	"1"	"99"	"9"	"137686903"	"137686903"	"subst"	"4.06782E-6"	"00006"	"COL5A1_000437"	"g.137686903T>G"	""	"{PMID:Burrows 1998:09683580}"	""	"IVS32:T-25G"	"mapped by linkage analysis; branchpoint variant"	"Germline"	"yes"	""	"0"	""	""	"g.134795057T>G"	""	"pathogenic"	""
"0000250021"	"0"	"10"	"9"	"137688701"	"137688701"	"subst"	"0.01012"	"02329"	"COL5A1_000079"	"g.137688701A>G"	""	""	""	"COL5A1(NM_000093.4):c.2852A>G (p.N951S), COL5A1(NM_000093.5):c.2852A>G (p.(Asn951Ser), p.N951S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134796855A>G"	""	"benign"	""
"0000250222"	"0"	"10"	"9"	"137642478"	"137642478"	"subst"	"0.227491"	"02329"	"COL5A1_000466"	"g.137642478A>G"	""	""	""	"COL5A1(NM_000093.5):c.1569+16A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134750632A>G"	""	"benign"	""
"0000250223"	"0"	"10"	"9"	"137686987"	"137686987"	"subst"	"0.0459362"	"02329"	"COL5A1_000273"	"g.137686987A>T"	""	""	""	"COL5A1(NM_000093.5):c.2745+15A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134795141A>T"	""	"benign"	""
"0000250528"	"0"	"50"	"9"	"137708904"	"137708904"	"subst"	"8.1215E-6"	"02329"	"COL5A1_000338"	"g.137708904A>G"	""	""	""	"COL5A1(NM_000093.5):c.4155A>G (p.P1385=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134817058A>G"	""	"VUS"	""
"0000250693"	"0"	"10"	"9"	"137715300"	"137715300"	"subst"	"0.00124675"	"02326"	"COL5A1_000316"	"g.137715300A>C"	""	""	""	"COL5A1(NM_000093.4):c.4683A>C (p.G1561=), COL5A1(NM_000093.5):c.4683A>C (p.G1561=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134823454A>C"	""	"benign"	""
"0000251688"	"0"	"30"	"9"	"137688701"	"137688701"	"subst"	"0.01012"	"02326"	"COL5A1_000079"	"g.137688701A>G"	""	""	""	"COL5A1(NM_000093.4):c.2852A>G (p.N951S), COL5A1(NM_000093.5):c.2852A>G (p.(Asn951Ser), p.N951S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134796855A>G"	""	"likely benign"	""
"0000251941"	"0"	"30"	"9"	"137619230"	"137619230"	"subst"	"0"	"02326"	"COL5A1_000448"	"g.137619230A>G"	""	""	""	"COL5A1(NM_000093.4):c.773A>G (p.N258S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134727384A>G"	""	"likely benign"	""
"0000253045"	"0"	"10"	"9"	"137715300"	"137715300"	"subst"	"0.00124675"	"01943"	"COL5A1_000316"	"g.137715300A>C"	""	""	""	"COL5A1(NM_000093.4):c.4683A>C (p.G1561=), COL5A1(NM_000093.5):c.4683A>C (p.G1561=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134823454A>C"	""	"benign"	""
"0000254885"	"0"	"30"	"9"	"137677858"	"137677858"	"subst"	"0"	"01943"	"COL5A1_000373"	"g.137677858A>G"	""	""	""	"COL5A1(NM_000093.4):c.2610A>G (p.P870=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134786012A>G"	""	"likely benign"	""
"0000266986"	"0"	"10"	"9"	"137630587"	"137630587"	"subst"	"0.480622"	"02325"	"COL5A1_000462"	"g.137630587T>C"	""	""	""	"COL5A1(NM_000093.5):c.1432-5T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134738741T>C"	""	"benign"	""
"0000266987"	"0"	"10"	"9"	"137672012"	"137672012"	"subst"	"0.419956"	"02325"	"COL5A1_000267"	"g.137672012C>T"	""	""	""	"COL5A1(NM_000093.5):c.2430+20C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134780166C>T"	""	"benign"	""
"0000266988"	"0"	"10"	"9"	"137707834"	"137707834"	"subst"	"0.147376"	"02325"	"COL5A1_000082"	"g.137707834G>A"	""	""	""	"COL5A1(NM_000093.5):c.4122G>A (p.T1374=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134815988G>A"	""	"benign"	""
"0000266989"	"0"	"10"	"9"	"137708934"	"137708934"	"subst"	"0.343082"	"02325"	"COL5A1_000308"	"g.137708934T>G"	""	""	""	"COL5A1(NM_000093.4):c.4176+9_4176+10delTCinsGC, COL5A1(NM_000093.5):c.4176+9T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134817088T>G"	""	"benign"	""
"0000266991"	"0"	"10"	"9"	"137619195"	"137619195"	"subst"	"0.447041"	"02325"	"COL5A1_000055"	"g.137619195C>T"	""	""	""	"COL5A1(NM_000093.4):c.738_739delCGinsTG (p.T246_A247=), COL5A1(NM_000093.5):c.738C>T (p.T246=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134727349C>T"	""	"benign"	""
"0000268375"	"0"	"10"	"9"	"137622249"	"137622249"	"subst"	"0.0384972"	"02329"	"COL5A1_000054"	"g.137622249C>T"	""	""	""	"COL5A1(NM_000093.5):c.1092C>T (p.P364=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134730403C>T"	""	"benign"	""
"0000268376"	"0"	"30"	"9"	"137623401"	"137623401"	"subst"	"0.000192805"	"02329"	"COL5A1_000456"	"g.137623401G>C"	""	""	""	"COL5A1(NM_000093.4):c.1224G>C (p.T408=), COL5A1(NM_000093.5):c.1224G>C (p.T408=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134731555G>C"	""	"likely benign"	""
"0000268377"	"0"	"10"	"9"	"137623967"	"137623967"	"subst"	"0.000946516"	"02329"	"COL5A1_000073"	"g.137623967C>T"	""	""	""	"COL5A1(NM_000093.4):c.1383C>T (p.I461=), COL5A1(NM_000093.5):c.1383C>T (p.I461=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134732121C>T"	""	"benign"	""
"0000268378"	"0"	"30"	"9"	"137630308"	"137630309"	"del"	"0"	"02329"	"COL5A1_000459"	"g.137630308_137630309del"	""	""	""	"COL5A1(NM_000093.4):c.1390-12_1390-11delCT, COL5A1(NM_000093.5):c.1390-12_1390-11delCT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134738462_134738463del"	""	"likely benign"	""
"0000268379"	"0"	"10"	"9"	"137630361"	"137630361"	"subst"	"0.0144372"	"02329"	"COL5A1_000074"	"g.137630361G>A"	""	""	""	"COL5A1(NM_000093.5):c.1431G>A (p.A477=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134738515G>A"	""	"benign"	""
"0000268380"	"0"	"10"	"9"	"137630587"	"137630587"	"subst"	"0.480622"	"02329"	"COL5A1_000462"	"g.137630587T>C"	""	""	""	"COL5A1(NM_000093.5):c.1432-5T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134738741T>C"	""	"benign"	""
"0000268381"	"0"	"90"	"9"	"137642396"	"137642396"	"del"	"0"	"02329"	"COL5A1_000464"	"g.137642396del"	""	""	""	"COL5A1(NM_000093.5):c.1503delT (p.G502Dfs*56)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134750550del"	""	"pathogenic"	""
"0000268382"	"0"	"10"	"9"	"137642477"	"137642477"	"subst"	"0.0815629"	"02329"	"COL5A1_000465"	"g.137642477C>T"	""	""	""	"COL5A1(NM_000093.4):c.1569+15C>T, COL5A1(NM_000093.5):c.1569+15C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134750631C>T"	""	"benign"	""
"0000268383"	"0"	"30"	"9"	"137642481"	"137642481"	"subst"	"0.000158645"	"02329"	"COL5A1_000467"	"g.137642481C>T"	""	""	""	"COL5A1(NM_000093.5):c.1569+19C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134750635C>T"	""	"likely benign"	""
"0000268384"	"0"	"90"	"9"	"137644487"	"137644487"	"del"	"0"	"02329"	"COL5A1_000470"	"g.137644487del"	""	""	""	"COL5A1(NM_000093.5):c.1715delC (p.P572Lfs*10)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134752641del"	""	"pathogenic"	""
"0000268385"	"0"	"30"	"9"	"137653755"	"137653755"	"subst"	"5.2855E-5"	"02329"	"COL5A1_000260"	"g.137653755C>G"	""	""	""	"COL5A1(NM_000093.4):c.1936-16C>G, COL5A1(NM_000093.5):c.1936-16C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134761909C>G"	""	"likely benign"	""
"0000268386"	"0"	"30"	"9"	"137582841"	"137582841"	"subst"	"0.00213333"	"02329"	"COL5A1_000203"	"g.137582841C>T"	""	""	""	"COL5A1(NM_000093.4):c.193C>T (p.R65W), COL5A1(NM_000093.5):c.193C>T (p.R65W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134690995C>T"	""	"likely benign"	""
"0000268387"	"0"	"30"	"9"	"137653805"	"137653805"	"subst"	"6.50486E-5"	"02329"	"COL5A1_000261"	"g.137653805C>T"	""	""	""	"COL5A1(NM_000093.4):c.1970C>T (p.P657L), COL5A1(NM_000093.5):c.1970C>T (p.P657L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134761959C>T"	""	"likely benign"	""
"0000268388"	"0"	"90"	"9"	"137655584"	"137655584"	"subst"	"0"	"02329"	"COL5A1_000101"	"g.137655584G>A"	""	""	""	"COL5A1(NM_000093.5):c.2034+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134763738G>A"	""	"pathogenic"	""
"0000268389"	"0"	"10"	"9"	"137657550"	"137657550"	"subst"	"0.00070422"	"02329"	"COL5A1_000265"	"g.137657550G>A"	""	""	""	"COL5A1(NM_000093.4):c.2058G>A (p.P686=), COL5A1(NM_000093.5):c.2058G>A (p.P686=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134765704G>A"	""	"benign"	""
"0000268390"	"0"	"10"	"9"	"137672012"	"137672012"	"subst"	"0.419956"	"02329"	"COL5A1_000267"	"g.137672012C>T"	""	""	""	"COL5A1(NM_000093.5):c.2430+20C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134780166C>T"	""	"benign"	""
"0000268391"	"0"	"10"	"9"	"137674521"	"137674521"	"subst"	"0.0013445"	"02329"	"COL5A1_000269"	"g.137674521C>T"	""	""	""	"COL5A1(NM_000093.4):c.2439C>T (p.D813=), COL5A1(NM_000093.5):c.2439C>T (p.D813=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134782675C>T"	""	"benign"	""
"0000268392"	"0"	"10"	"9"	"137686951"	"137686951"	"subst"	"0.0259525"	"02329"	"COL5A1_000078"	"g.137686951G>A"	""	""	""	"COL5A1(NM_000093.5):c.2724G>A (p.P908=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134795105G>A"	""	"benign"	""
"0000268393"	"0"	"10"	"9"	"137687165"	"137687165"	"subst"	"0.00315869"	"02329"	"COL5A1_000274"	"g.137687165T>C"	""	""	""	"COL5A1(NM_000093.5):c.2799+4T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134795319T>C"	""	"benign"	""
"0000268394"	"0"	"10"	"9"	"137688741"	"137688741"	"subst"	"0.0409717"	"02329"	"COL5A1_000056"	"g.137688741C>T"	""	""	""	"COL5A1(NM_000093.5):c.2892C>T (p.(Gly964=), p.G964=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134796895C>T"	""	"benign"	""
"0000268397"	"0"	"90"	"9"	"137694803"	"137694803"	"subst"	"0"	"02329"	"COL5A1_000282"	"g.137694803C>T"	""	""	""	"COL5A1(NM_000093.5):c.3076C>T (p.Q1026*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134802957C>T"	""	"pathogenic"	""
"0000268398"	"0"	"30"	"9"	"137698027"	"137698027"	"subst"	"0.000311793"	"02329"	"COL5A1_000285"	"g.137698027C>T"	""	""	""	"COL5A1(NM_000093.4):c.3259-8C>T, COL5A1(NM_000093.5):c.3259-8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134806181C>T"	""	"likely benign"	""
"0000268399"	"0"	"90"	"9"	"137698127"	"137698137"	"del"	"0"	"02329"	"COL5A1_000289"	"g.137698127_137698137del"	""	""	""	"COL5A1(NM_000093.5):c.3351_3361delAGAGAAAGGGG (p.E1118Sfs*37)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134806281_134806291del"	""	"pathogenic"	""
"0000268400"	"0"	"90"	"9"	"137703371"	"137703371"	"subst"	"0"	"02329"	"COL5A1_000292"	"g.137703371C>T"	""	""	""	"COL5A1(NM_000093.5):c.3616C>T (p.Q1206*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134811525C>T"	""	"pathogenic"	""
"0000268401"	"0"	"10"	"9"	"137704433"	"137704433"	"subst"	"0.0863789"	"02329"	"COL5A1_000296"	"g.137704433G>A"	""	""	""	"COL5A1(NM_000093.5):c.3745-18G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134812587G>A"	""	"benign"	""
"0000268402"	"0"	"90"	"9"	"137705850"	"137705850"	"subst"	"0"	"02329"	"COL5A1_000001"	"g.137705850G>A"	""	""	""	"COL5A1(NM_000093.5):c.3874G>A (p.E1292K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134814004G>A"	""	"pathogenic"	""
"0000268403"	"0"	"30"	"9"	"137706723"	"137706723"	"subst"	"4.03139E-5"	"02329"	"COL5A1_000300"	"g.137706723C>T"	""	""	""	"COL5A1(NM_000093.4):c.3987C>T (p.P1329=), COL5A1(NM_000093.5):c.3987C>T (p.P1329=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134814877C>T"	""	"likely benign"	""
"0000268404"	"0"	"90"	"9"	"137707429"	"137707430"	"del"	"0"	"02329"	"COL5A1_000301"	"g.137707429_137707430del"	""	""	""	"COL5A1(NM_000093.5):c.4022_4023delTG (p.V1341Gfs*23)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134815583_134815584del"	""	"pathogenic"	""
"0000268405"	"0"	"30"	"9"	"137591885"	"137591885"	"subst"	"6.50713E-5"	"02329"	"COL5A1_000107"	"g.137591885C>T"	""	""	""	"COL5A1(NM_000093.5):c.408C>T (p.P136=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134700039C>T"	""	"likely benign"	""
"0000268406"	"0"	"90"	"9"	"137707830"	"137707830"	"dup"	"0"	"02329"	"COL5A1_000305"	"g.137707830dup"	""	""	""	"COL5A1(NM_000093.5):c.4118dupA (p.T1374Dfs*9)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134815984dup"	""	"pathogenic"	""
"0000268407"	"0"	"10"	"9"	"137707834"	"137707834"	"subst"	"0.147376"	"02329"	"COL5A1_000082"	"g.137707834G>A"	""	""	""	"COL5A1(NM_000093.5):c.4122G>A (p.T1374=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134815988G>A"	""	"benign"	""
"0000268408"	"0"	"10"	"9"	"137708884"	"137708884"	"subst"	"0.00757317"	"02329"	"COL5A1_000083"	"g.137708884C>T"	""	""	""	"COL5A1(NM_000093.4):c.4135C>T (p.P1379S), COL5A1(NM_000093.5):c.4135C>T (p.P1379S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134817038C>T"	""	"benign"	""
"0000268409"	"0"	"10"	"9"	"137708934"	"137708934"	"subst"	"0.343082"	"02329"	"COL5A1_000308"	"g.137708934T>G"	""	""	""	"COL5A1(NM_000093.4):c.4176+9_4176+10delTCinsGC, COL5A1(NM_000093.5):c.4176+9T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134817088T>G"	""	"benign"	""
"0000268410"	"0"	"10"	"9"	"137709683"	"137709683"	"subst"	"0.0257984"	"02329"	"COL5A1_000310"	"g.137709683G>A"	""	""	""	"COL5A1(NM_000093.4):c.4230+6G>A, COL5A1(NM_000093.5):c.4230+6G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134817837G>A"	""	"benign"	""
"0000268411"	"0"	"30"	"9"	"137710863"	"137710863"	"subst"	"0.00187223"	"02329"	"COL5A1_000312"	"g.137710863C>T"	""	""	""	"COL5A1(NM_000093.4):c.4410C>T (p.P1470=), COL5A1(NM_000093.5):c.4410C>T (p.P1470=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134819017C>T"	""	"likely benign"	""
"0000268412"	"0"	"10"	"9"	"137711997"	"137711997"	"subst"	"0.0419355"	"02329"	"COL5A1_000058"	"g.137711997G>A"	""	""	""	"COL5A1(NM_000093.4):c.4482G>A (p.P1494=), COL5A1(NM_000093.5):c.4482G>A (p.P1494=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134820151G>A"	""	"benign"	""
"0000268413"	"0"	"10"	"9"	"137711997"	"137711997"	"subst"	"0.368319"	"02329"	"COL5A1_000057"	"g.137711997G>C"	""	""	""	"COL5A1(NM_000093.5):c.4482G>C (p.P1494=), LOC101448202(NR_103451.2):n.129C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134820151G>C"	""	"benign"	""
"0000268414"	"0"	"10"	"9"	"137713948"	"137713948"	"subst"	"0.0253255"	"02329"	"COL5A1_000086"	"g.137713948C>T"	""	""	""	"COL5A1(NM_000093.4):c.4560C>T (p.I1520=), COL5A1(NM_000093.5):c.4560C>T (p.(Ile1520=), p.I1520=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134822102C>T"	""	"benign"	""
"0000268415"	"0"	"10"	"9"	"137716440"	"137716440"	"subst"	"0.00251681"	"02329"	"COL5A1_000317"	"g.137716440C>T"	""	""	""	"COL5A1(NM_000093.4):c.4699-6C>T, COL5A1(NM_000093.5):c.4699-6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134824594C>T"	""	"benign"	""
"0000268416"	"0"	"30"	"9"	"137716529"	"137716529"	"subst"	"3.25174E-5"	"02329"	"COL5A1_000318"	"g.137716529C>T"	""	""	""	"COL5A1(NM_000093.4):c.4782C>T (p.D1594=), COL5A1(NM_000093.5):c.4782C>T (p.D1594=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134824683C>T"	""	"likely benign"	""
"0000268417"	"0"	"10"	"9"	"137717622"	"137717622"	"subst"	"0.00447606"	"02329"	"COL5A1_000320"	"g.137717622C>T"	""	""	""	"COL5A1(NM_000093.5):c.4955-16C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134825776C>T"	""	"benign"	""
"0000268418"	"0"	"10"	"9"	"137717770"	"137717770"	"subst"	"0.00435456"	"02329"	"COL5A1_000323"	"g.137717770C>G"	""	""	""	"COL5A1(NM_000093.5):c.5067+20C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134825924C>G"	""	"benign"	""
"0000268419"	"0"	"10"	"9"	"137721815"	"137721815"	"subst"	"0.00377227"	"02329"	"COL5A1_000325"	"g.137721815T>C"	""	""	""	"COL5A1(NM_000093.4):c.5068-7T>C, COL5A1(NM_000093.5):c.5068-7T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134829969T>C"	""	"benign"	""
"0000268420"	"0"	"30"	"9"	"137593039"	"137593039"	"subst"	"0.000341791"	"02329"	"COL5A1_000204"	"g.137593039G>T"	""	""	""	"COL5A1(NM_000093.4):c.514G>T (p.V172F), COL5A1(NM_000093.5):c.514G>T (p.V172F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134701193G>T"	""	"likely benign"	""
"0000268421"	"0"	"10"	"9"	"137726870"	"137726870"	"subst"	"0.0027224"	"02329"	"COL5A1_000094"	"g.137726870C>T"	""	""	""	"COL5A1(NM_000093.5):c.5190C>T (p.F1730=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134835024C>T"	""	"benign"	""
"0000268422"	"0"	"70"	"9"	"137726978"	"137726995"	"del"	"0"	"02329"	"COL5A1_000143"	"g.137726978_137726995del"	""	""	""	"COL5A1(NM_000093.5):c.5298_5315delCCTGGGCTCCAACGACGA (p.F1766_E1772delinsL)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134835132_134835149del"	""	"likely pathogenic"	""
"0000268423"	"0"	"10"	"9"	"137593099"	"137593099"	"subst"	"0.0169378"	"02329"	"COL5A1_000053"	"g.137593099G>A"	""	""	""	"COL5A1(NM_000093.3):c.574G>A (p.(Asp192Asn)), COL5A1(NM_000093.4):c.574G>A (p.D192N), COL5A1(NM_000093.5):c.574G>A (p.D192N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134701253G>A"	""	"benign"	""
"0000268424"	"0"	"10"	"9"	"137619195"	"137619195"	"subst"	"0.447041"	"02329"	"COL5A1_000055"	"g.137619195C>T"	""	""	""	"COL5A1(NM_000093.4):c.738_739delCGinsTG (p.T246_A247=), COL5A1(NM_000093.5):c.738C>T (p.T246=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134727349C>T"	""	"benign"	""
"0000268426"	"0"	"50"	"9"	"137620570"	"137620570"	"subst"	"0"	"02329"	"COL5A1_000450"	"g.137620570G>A"	""	""	""	"COL5A1(NM_000093.5):c.841G>A (p.E281K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134728724G>A"	""	"VUS"	""
"0000270452"	"0"	"30"	"9"	"137622171"	"137622171"	"subst"	"0"	"02326"	"COL5A1_000454"	"g.137622171T>C"	""	""	""	"COL5A1(NM_000093.4):c.1014T>C (p.Y338=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134730325T>C"	""	"likely benign"	""
"0000270453"	"0"	"30"	"9"	"137623401"	"137623401"	"subst"	"0.000192805"	"02326"	"COL5A1_000456"	"g.137623401G>C"	""	""	""	"COL5A1(NM_000093.4):c.1224G>C (p.T408=), COL5A1(NM_000093.5):c.1224G>C (p.T408=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134731555G>C"	""	"likely benign"	""
"0000270454"	"0"	"30"	"9"	"137582774"	"137582774"	"subst"	"0.000480714"	"02326"	"COL5A1_000443"	"g.137582774C>T"	""	""	""	"COL5A1(NM_000093.4):c.126C>T (p.L42=), COL5A1(NM_000093.5):c.126C>T (p.L42=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134690928C>T"	""	"likely benign"	""
"0000270455"	"0"	"10"	"9"	"137650150"	"137650150"	"subst"	"0.00553384"	"02326"	"COL5A1_000475"	"g.137650150T>G"	""	""	""	"COL5A1(NM_000093.4):c.1935+8T>G, COL5A1(NM_000093.5):c.1935+8T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134758304T>G"	""	"benign"	""
"0000270456"	"0"	"30"	"9"	"137582841"	"137582841"	"subst"	"0.00213333"	"02326"	"COL5A1_000203"	"g.137582841C>T"	""	""	""	"COL5A1(NM_000093.4):c.193C>T (p.R65W), COL5A1(NM_000093.5):c.193C>T (p.R65W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134690995C>T"	""	"likely benign"	""
"0000270457"	"0"	"30"	"9"	"137676824"	"137676824"	"subst"	"1.2236E-5"	"02326"	"COL5A1_000271"	"g.137676824C>T"	""	""	""	"COL5A1(NM_000093.4):c.2485-11C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134784978C>T"	""	"likely benign"	""
"0000270458"	"0"	"30"	"9"	"137694796"	"137694796"	"subst"	"0.000181723"	"02326"	"COL5A1_000281"	"g.137694796C>T"	""	""	""	"COL5A1(NM_000093.4):c.3069C>T (p.P1023=), COL5A1(NM_000093.5):c.3069C>T (p.P1023=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134802950C>T"	""	"likely benign"	""
"0000270459"	"0"	"30"	"9"	"137694853"	"137694853"	"subst"	"0.000129973"	"02326"	"COL5A1_000283"	"g.137694853G>C"	""	""	""	"COL5A1(NM_000093.4):c.3114+12G>C, COL5A1(NM_000093.5):c.3114+12G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134803007G>C"	""	"likely benign"	""
"0000270460"	"0"	"30"	"9"	"137697067"	"137697067"	"subst"	"1.62464E-5"	"02326"	"COL5A1_000284"	"g.137697067C>A"	""	""	""	"COL5A1(NM_000093.4):c.3258+7C>A, COL5A1(NM_000093.5):c.3258+7C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134805221C>A"	""	"likely benign"	""
"0000270461"	"0"	"10"	"9"	"137704379"	"137704379"	"subst"	"0.00323871"	"02326"	"COL5A1_000295"	"g.137704379C>T"	""	""	""	"COL5A1(NM_000093.4):c.3744+31C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134812533C>T"	""	"benign"	""
"0000270462"	"0"	"10"	"9"	"137591855"	"137591855"	"subst"	"0.00357601"	"02326"	"COL5A1_000446"	"g.137591855G>T"	""	""	""	"COL5A1(NM_000093.4):c.378G>T (p.Q126H), COL5A1(NM_000093.5):c.378G>T (p.Q126H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134700009G>T"	""	"benign"	""
"0000270463"	"0"	"30"	"9"	"137705896"	"137705896"	"subst"	"8.13659E-5"	"02326"	"COL5A1_000299"	"g.137705896C>T"	""	""	""	"COL5A1(NM_000093.4):c.3906+14C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134814050C>T"	""	"likely benign"	""
"0000270464"	"0"	"10"	"9"	"137708884"	"137708884"	"subst"	"0.00757317"	"02326"	"COL5A1_000083"	"g.137708884C>T"	""	""	""	"COL5A1(NM_000093.4):c.4135C>T (p.P1379S), COL5A1(NM_000093.5):c.4135C>T (p.P1379S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134817038C>T"	""	"benign"	""
"0000270465"	"0"	"30"	"9"	"137709682"	"137709682"	"subst"	"0.00220065"	"02326"	"COL5A1_000309"	"g.137709682C>T"	""	""	""	"COL5A1(NM_000093.4):c.4230+5C>T, COL5A1(NM_000093.5):c.4230+5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134817836C>T"	""	"likely benign"	""
"0000270466"	"0"	"10"	"9"	"137710837"	"137710837"	"subst"	"0.0265575"	"02326"	"COL5A1_000311"	"g.137710837C>T"	""	""	""	"COL5A1(NM_000093.4):c.4393-9C>T, COL5A1(NM_000093.5):c.4393-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134818991C>T"	""	"benign"	""
"0000270467"	"0"	"10"	"9"	"137711997"	"137711997"	"subst"	"0.0419355"	"02326"	"COL5A1_000058"	"g.137711997G>A"	""	""	""	"COL5A1(NM_000093.4):c.4482G>A (p.P1494=), COL5A1(NM_000093.5):c.4482G>A (p.P1494=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134820151G>A"	""	"benign"	""
"0000270468"	"0"	"30"	"9"	"137721808"	"137721808"	"subst"	"2.88004E-5"	"02326"	"COL5A1_000324"	"g.137721808C>T"	""	""	""	"COL5A1(NM_000093.4):c.5068-14C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134829962C>T"	""	"likely benign"	""
"0000270469"	"0"	"10"	"9"	"137726805"	"137726805"	"subst"	"0.00570299"	"02326"	"COL5A1_000326"	"g.137726805C>T"	""	""	""	"COL5A1(NM_000093.4):c.5137-12C>T, COL5A1(NM_000093.5):c.5137-12C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134834959C>T"	""	"benign"	""
"0000270470"	"0"	"10"	"9"	"137726950"	"137726950"	"subst"	"0.0118145"	"02326"	"COL5A1_000095"	"g.137726950C>T"	""	""	""	"COL5A1(NM_000093.4):c.5270C>T (p.T1757M), COL5A1(NM_000093.5):c.5270C>T (p.T1757M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134835104C>T"	""	"benign"	""
"0000270471"	"0"	"10"	"9"	"137593099"	"137593099"	"subst"	"0.0169378"	"02326"	"COL5A1_000053"	"g.137593099G>A"	""	""	""	"COL5A1(NM_000093.3):c.574G>A (p.(Asp192Asn)), COL5A1(NM_000093.4):c.574G>A (p.D192N), COL5A1(NM_000093.5):c.574G>A (p.D192N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134701253G>A"	""	"benign"	""
"0000270472"	"0"	"30"	"9"	"137620509"	"137620509"	"subst"	"4.06329E-6"	"02326"	"COL5A1_000449"	"g.137620509C>T"	""	""	""	"COL5A1(NM_000093.4):c.787-7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134728663C>T"	""	"likely benign"	""
"0000270473"	"0"	"30"	"9"	"137534115"	"137534117"	"del"	"0"	"02326"	"COL5A1_000442"	"g.137534115_137534117del"	""	""	""	"COL5A1(NM_000093.4):c.82_84delCTG (p.L28del), COL5A1(NM_000093.5):c.82_84delCTG (p.L28del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134642269_134642271del"	""	"likely benign"	""
"0000270474"	"0"	"30"	"9"	"137620666"	"137620666"	"subst"	"0.000532041"	"02326"	"COL5A1_000452"	"g.137620666C>T"	""	""	""	"COL5A1(NM_000093.4):c.924+13C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134728820C>T"	""	"likely benign"	""
"0000274216"	"0"	"30"	"9"	"137622162"	"137622162"	"subst"	"2.84282E-5"	"01943"	"COL5A1_000453"	"g.137622162C>T"	""	""	""	"COL5A1(NM_000093.4):c.1005C>T (p.I335=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134730316C>T"	""	"likely benign"	""
"0000274217"	"0"	"50"	"9"	"137622209"	"137622209"	"subst"	"2.03085E-5"	"01943"	"COL5A1_000455"	"g.137622209C>A"	""	""	""	"COL5A1(NM_000093.4):c.1052C>A (p.P351Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134730363C>A"	""	"VUS"	""
"0000274218"	"0"	"30"	"9"	"137582774"	"137582774"	"subst"	"0.000480714"	"01943"	"COL5A1_000443"	"g.137582774C>T"	""	""	""	"COL5A1(NM_000093.4):c.126C>T (p.L42=), COL5A1(NM_000093.5):c.126C>T (p.L42=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134690928C>T"	""	"likely benign"	""
"0000274219"	"0"	"50"	"9"	"137623481"	"137623481"	"subst"	"3.6968E-5"	"01943"	"COL5A1_000457"	"g.137623481C>T"	""	""	""	"COL5A1(NM_000093.3):c.1304C>T (p.(Pro435Leu)), COL5A1(NM_000093.4):c.1304C>T (p.P435L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134731635C>T"	""	"VUS"	""
"0000274221"	"0"	"50"	"9"	"137623934"	"137623934"	"subst"	"0.000211154"	"01943"	"COL5A1_000458"	"g.137623934C>T"	""	""	""	"COL5A1(NM_000093.4):c.1350C>T (p.G450=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134732088C>T"	""	"VUS"	""
"0000274222"	"0"	"30"	"9"	"137623967"	"137623967"	"subst"	"0.000946516"	"01943"	"COL5A1_000073"	"g.137623967C>T"	""	""	""	"COL5A1(NM_000093.4):c.1383C>T (p.I461=), COL5A1(NM_000093.5):c.1383C>T (p.I461=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134732121C>T"	""	"likely benign"	""
"0000274223"	"0"	"50"	"9"	"137630339"	"137630339"	"subst"	"4.0626E-5"	"01943"	"COL5A1_000461"	"g.137630339C>T"	""	""	""	"COL5A1(NM_000093.4):c.1409C>T (p.P470L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134738493C>T"	""	"VUS"	""
"0000274224"	"0"	"30"	"9"	"137630600"	"137630600"	"subst"	"0.000284262"	"01943"	"COL5A1_000463"	"g.137630600C>T"	""	""	""	"COL5A1(NM_000093.4):c.1440C>T (p.P480=), COL5A1(NM_000093.5):c.1440C>T (p.P480=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134738754C>T"	""	"likely benign"	""
"0000274225"	"0"	"10"	"9"	"137642477"	"137642477"	"subst"	"0.0815629"	"01943"	"COL5A1_000465"	"g.137642477C>T"	""	""	""	"COL5A1(NM_000093.4):c.1569+15C>T, COL5A1(NM_000093.5):c.1569+15C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134750631C>T"	""	"benign"	""
"0000274226"	"0"	"30"	"9"	"137642653"	"137642653"	"subst"	"3.25582E-5"	"01943"	"COL5A1_000468"	"g.137642653C>T"	""	""	""	"COL5A1(NM_000093.4):c.1587C>T (p.G529=), COL5A1(NM_000093.5):c.1587C>T (p.G529=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134750807C>T"	""	"likely benign"	""
"0000274227"	"0"	"50"	"9"	"137642703"	"137642703"	"subst"	"0.000131314"	"01943"	"COL5A1_000469"	"g.137642703C>T"	""	""	""	"COL5A1(NM_000093.4):c.1637C>T (p.A546V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134750857C>T"	""	"VUS"	""
"0000274228"	"0"	"50"	"9"	"137645703"	"137645703"	"subst"	"0"	"01943"	"COL5A1_000471"	"g.137645703C>T"	""	""	""	"COL5A1(NM_000093.4):c.1727C>T (p.P576L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134753857C>T"	""	"VUS"	""
"0000274229"	"0"	"50"	"9"	"137646150"	"137646150"	"subst"	"4.88146E-5"	"01943"	"COL5A1_000472"	"g.137646150C>T"	""	""	""	"COL5A1(NM_000093.4):c.1805C>T (p.P602L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134754304C>T"	""	"VUS"	""
"0000274230"	"0"	"50"	"9"	"137650095"	"137650095"	"subst"	"8.94236E-5"	"01943"	"COL5A1_000473"	"g.137650095C>T"	""	""	""	"COL5A1(NM_000093.4):c.1888C>T (p.R630W), COL5A1(NM_000093.5):c.1888C>T (p.R630W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134758249C>T"	""	"VUS"	""
"0000274231"	"0"	"50"	"9"	"137650127"	"137650127"	"subst"	"1.62617E-5"	"01943"	"COL5A1_000474"	"g.137650127C>T"	""	""	""	"COL5A1(NM_000093.4):c.1920C>T (p.G640=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134758281C>T"	""	"VUS"	""
"0000274232"	"0"	"30"	"9"	"137653812"	"137653812"	"subst"	"3.65916E-5"	"01943"	"COL5A1_000262"	"g.137653812C>T"	""	""	""	"COL5A1(NM_000093.4):c.1977C>T (p.D659=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134761966C>T"	""	"likely benign"	""
"0000274233"	"0"	"30"	"9"	"137655580"	"137655580"	"subst"	"0.000699238"	"01943"	"COL5A1_000076"	"g.137655580G>A"	""	""	""	"COL5A1(NM_000093.4):c.2031G>A (p.E677=), COL5A1(NM_000093.5):c.2031G>A (p.E677=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134763734G>A"	""	"likely benign"	""
"0000274234"	"0"	"30"	"9"	"137658308"	"137658308"	"subst"	"0"	"01943"	"COL5A1_000266"	"g.137658308G>A"	""	""	""	"COL5A1(NM_000093.4):c.2097G>A (p.T699=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134766462G>A"	""	"likely benign"	""
"0000274235"	"0"	"10"	"9"	"137674488"	"137674488"	"subst"	"0.129565"	"01943"	"COL5A1_000268"	"g.137674488G>A"	""	""	""	"COL5A1(NM_000093.4):c.2431-25G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134782642G>A"	""	"benign"	""
"0000274236"	"0"	"10"	"9"	"137674521"	"137674521"	"subst"	"0.0013445"	"01943"	"COL5A1_000269"	"g.137674521C>T"	""	""	""	"COL5A1(NM_000093.4):c.2439C>T (p.D813=), COL5A1(NM_000093.5):c.2439C>T (p.D813=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134782675C>T"	""	"benign"	""
"0000274237"	"0"	"50"	"9"	"137674528"	"137674528"	"subst"	"0"	"01943"	"COL5A1_000270"	"g.137674528C>A"	""	""	""	"COL5A1(NM_000093.4):c.2446C>A (p.P816T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134782682C>A"	""	"VUS"	""
"0000274239"	"0"	"50"	"9"	"137591769"	"137591769"	"subst"	"7.72188E-5"	"01943"	"COL5A1_000444"	"g.137591769G>A"	""	""	""	"COL5A1(NM_000093.4):c.292G>A (p.E98K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134699923G>A"	""	"VUS"	""
"0000274240"	"0"	"30"	"9"	"137693844"	"137693844"	"subst"	"0.00019109"	"01943"	"COL5A1_000280"	"g.137693844C>T"	""	""	""	"COL5A1(NM_000093.4):c.2997C>T (p.V999=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134801998C>T"	""	"likely benign"	""
"0000274241"	"0"	"50"	"9"	"137591789"	"137591791"	"del"	"0"	"01943"	"COL5A1_000445"	"g.137591789_137591791del"	""	""	""	"COL5A1(NM_000093.4):c.312_314delAAC (p.T105del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134699943_134699945del"	""	"VUS"	""
"0000274242"	"0"	"50"	"9"	"137698068"	"137698068"	"subst"	"0"	"01943"	"COL5A1_000286"	"g.137698068G>T"	""	""	""	"COL5A1(NM_000093.4):c.3292G>T (p.A1098S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134806222G>T"	""	"VUS"	""
"0000274243"	"0"	"50"	"9"	"137698102"	"137698102"	"subst"	"0"	"01943"	"COL5A1_000287"	"g.137698102C>A"	""	""	""	"COL5A1(NM_000093.4):c.3326C>A (p.P1109H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134806256C>A"	""	"VUS"	""
"0000274244"	"0"	"50"	"9"	"137698120"	"137698120"	"subst"	"3.41339E-5"	"01943"	"COL5A1_000220"	"g.137698120C>T"	""	""	""	"COL5A1(NM_000093.4):c.3344C>T (p.P1115L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134806274C>T"	""	"VUS"	""
"0000274245"	"0"	"30"	"9"	"137701127"	"137701127"	"subst"	"6.00931E-5"	"01943"	"COL5A1_000290"	"g.137701127C>T"	""	""	""	"COL5A1(NM_000093.4):c.3465C>T (p.D1155=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134809281C>T"	""	"likely benign"	""
"0000274246"	"0"	"70"	"9"	"137703347"	"137703347"	"subst"	"9.61619E-5"	"01943"	"COL5A1_000291"	"g.137703347G>A"	""	""	""	"COL5A1(NM_000093.4):c.3592G>A (p.G1198S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134811501G>A"	""	"likely pathogenic"	""
"0000274247"	"0"	"50"	"9"	"137591844"	"137591844"	"subst"	"0.000207204"	"01943"	"COL5A1_000205"	"g.137591844C>G"	""	""	""	"COL5A1(NM_000093.4):c.367C>G (p.Q123E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134699998C>G"	""	"VUS"	""
"0000274248"	"0"	"30"	"9"	"137704286"	"137704286"	"subst"	"9.74865E-5"	"01943"	"COL5A1_000293"	"g.137704286T>C"	""	""	""	"COL5A1(NM_000093.4):c.3691-9T>C, COL5A1(NM_000093.5):c.3691-9T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134812440T>C"	""	"likely benign"	""
"0000274249"	"0"	"50"	"9"	"137704329"	"137704329"	"subst"	"8.12341E-6"	"01943"	"COL5A1_000294"	"g.137704329C>T"	""	""	""	"COL5A1(NM_000093.4):c.3725C>T (p.T1242I), COL5A1(NM_000093.5):c.3725C>T (p.(Thr1242Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134812483C>T"	""	"VUS"	""
"0000274250"	"0"	"50"	"9"	"137704458"	"137704458"	"subst"	"3.95824E-5"	"01943"	"COL5A1_000297"	"g.137704458C>T"	""	""	""	"COL5A1(NM_000093.4):c.3752C>T (p.P1251L), COL5A1(NM_000093.5):c.3752C>T (p.P1251L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134812612C>T"	""	"VUS"	""
"0000274251"	"0"	"30"	"9"	"137707472"	"137707472"	"subst"	"0.00175047"	"01943"	"COL5A1_000081"	"g.137707472C>T"	""	""	""	"COL5A1(NM_000093.4):c.4065C>T (p.P1355=), COL5A1(NM_000093.5):c.4065C>T (p.P1355=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134815626C>T"	""	"likely benign"	""
"0000274252"	"0"	"50"	"9"	"137707473"	"137707473"	"subst"	"0.000250224"	"01943"	"COL5A1_000303"	"g.137707473G>A"	""	""	""	"COL5A1(NM_000093.4):c.4066G>A (p.A1356T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134815627G>A"	""	"VUS"	""
"0000274253"	"0"	"50"	"9"	"137707474"	"137707474"	"subst"	"4.51215E-5"	"01943"	"COL5A1_000304"	"g.137707474C>T"	""	""	""	"COL5A1(NM_000093.4):c.4067C>T (p.A1356V, p.(Ala1356Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134815628C>T"	""	"VUS"	""
"0000274254"	"0"	"10"	"9"	"137708934"	"137708934"	"subst"	"0.343082"	"01943"	"COL5A1_000308"	"g.137708934T>G"	""	""	""	"COL5A1(NM_000093.4):c.4176+9_4176+10delTCinsGC, COL5A1(NM_000093.5):c.4176+9T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134817088T>G"	""	"benign"	""
"0000274255"	"0"	"30"	"9"	"137709682"	"137709682"	"subst"	"0.00220065"	"01943"	"COL5A1_000309"	"g.137709682C>T"	""	""	""	"COL5A1(NM_000093.4):c.4230+5C>T, COL5A1(NM_000093.5):c.4230+5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134817836C>T"	""	"likely benign"	""
"0000274256"	"0"	"30"	"9"	"137710863"	"137710863"	"subst"	"0.00187223"	"01943"	"COL5A1_000312"	"g.137710863C>T"	""	""	""	"COL5A1(NM_000093.4):c.4410C>T (p.P1470=), COL5A1(NM_000093.5):c.4410C>T (p.P1470=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134819017C>T"	""	"likely benign"	""
"0000274257"	"0"	"30"	"9"	"137716529"	"137716529"	"subst"	"3.25174E-5"	"01943"	"COL5A1_000318"	"g.137716529C>T"	""	""	""	"COL5A1(NM_000093.4):c.4782C>T (p.D1594=), COL5A1(NM_000093.5):c.4782C>T (p.D1594=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134824683C>T"	""	"likely benign"	""
"0000274258"	"0"	"50"	"9"	"137716595"	"137716595"	"subst"	"8.1318E-6"	"01943"	"COL5A1_000319"	"g.137716595C>G"	""	""	""	"COL5A1(NM_000093.4):c.4848C>G (p.N1616K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134824749C>G"	""	"VUS"	""
"0000274259"	"0"	"30"	"9"	"137717651"	"137717651"	"subst"	"0.00013405"	"01943"	"COL5A1_000321"	"g.137717651C>T"	""	""	""	"COL5A1(NM_000093.4):c.4968C>T (p.V1656=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134825805C>T"	""	"likely benign"	""
"0000274260"	"0"	"50"	"9"	"137717707"	"137717707"	"subst"	"4.06177E-6"	"01943"	"COL5A1_000322"	"g.137717707C>A"	""	""	""	"COL5A1(NM_000093.4):c.5024C>A (p.A1675D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134825861C>A"	""	"VUS"	""
"0000274261"	"0"	"10"	"9"	"137726831"	"137726831"	"subst"	"0.00178255"	"01943"	"COL5A1_000092"	"g.137726831C>T"	""	""	""	"COL5A1(NM_000093.4):c.5151C>T (p.D1717=), COL5A1(NM_000093.5):c.5151C>T (p.D1717=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134834985C>T"	""	"benign"	""
"0000274262"	"0"	"50"	"9"	"137726832"	"137726832"	"subst"	"8.20802E-6"	"01943"	"COL5A1_000328"	"g.137726832G>A"	""	""	""	"COL5A1(NM_000093.4):c.5152G>A (p.A1718T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134834986G>A"	""	"VUS"	""
"0000274263"	"0"	"50"	"9"	"137726875"	"137726875"	"subst"	"1.22405E-5"	"01943"	"COL5A1_000330"	"g.137726875G>A"	""	""	""	"COL5A1(NM_000093.4):c.5195G>A (p.R1732Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134835029G>A"	""	"VUS"	""
"0000274264"	"0"	"50"	"9"	"137726886"	"137726886"	"subst"	"4.08303E-6"	"01943"	"COL5A1_000331"	"g.137726886G>A"	""	""	""	"COL5A1(NM_000093.4):c.5206G>A (p.A1736T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134835040G>A"	""	"VUS"	""
"0000274265"	"0"	"30"	"9"	"137726930"	"137726930"	"subst"	"7.7371E-5"	"01943"	"COL5A1_000332"	"g.137726930G>A"	""	""	""	"COL5A1(NM_000093.4):c.5250G>A (p.V1750=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134835084G>A"	""	"likely benign"	""
"0000274266"	"0"	"10"	"9"	"137734039"	"137734039"	"subst"	"0.000881297"	"01943"	"COL5A1_000096"	"g.137734039G>A"	""	""	""	"COL5A1(NM_000093.4):c.5407G>A (p.D1803N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134842193G>A"	""	"benign"	""
"0000274267"	"0"	"30"	"9"	"137734103"	"137734103"	"subst"	"0"	"01943"	"COL5A1_000336"	"g.137734103C>T"	""	""	""	"COL5A1(NM_000093.4):c.5471C>T (p.S1824L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134842257C>T"	""	"likely benign"	""
"0000274268"	"0"	"10"	"9"	"137593099"	"137593099"	"subst"	"0.0169378"	"01943"	"COL5A1_000053"	"g.137593099G>A"	""	""	""	"COL5A1(NM_000093.3):c.574G>A (p.(Asp192Asn)), COL5A1(NM_000093.4):c.574G>A (p.D192N), COL5A1(NM_000093.5):c.574G>A (p.D192N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134701253G>A"	""	"benign"	""
"0000274269"	"0"	"10"	"9"	"137534094"	"137534094"	"subst"	"0.00108632"	"01943"	"COL5A1_000440"	"g.137534094C>T"	""	""	""	"COL5A1(NM_000093.4):c.61C>T (p.P21S), COL5A1(NM_000093.5):c.61C>T (p.P21S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134642248C>T"	""	"benign"	""
"0000274270"	"0"	"10"	"9"	"137619195"	"137619195"	"subst"	"0.447041"	"01943"	"COL5A1_000055"	"g.137619195C>T"	""	""	""	"COL5A1(NM_000093.4):c.738_739delCGinsTG (p.T246_A247=), COL5A1(NM_000093.5):c.738C>T (p.T246=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134727349C>T"	""	"benign"	""
"0000274271"	"0"	"50"	"9"	"137619211"	"137619211"	"subst"	"2.84243E-5"	"01943"	"COL5A1_000447"	"g.137619211C>T"	""	""	""	"COL5A1(NM_000093.4):c.754C>T (p.P252S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134727365C>T"	""	"VUS"	""
"0000274272"	"0"	"30"	"9"	"137619218"	"137619218"	"subst"	"0.00100297"	"01943"	"COL5A1_000240"	"g.137619218C>T"	""	""	""	"COL5A1(NM_000093.4):c.761C>T (p.S254L), COL5A1(NM_000093.5):c.761C>T (p.S254L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134727372C>T"	""	"likely benign"	""
"0000274273"	"0"	"30"	"9"	"137620578"	"137620578"	"subst"	"2.4373E-5"	"01943"	"COL5A1_000451"	"g.137620578C>T"	""	""	""	"COL5A1(NM_000093.4):c.849C>T (p.P283=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134728732C>T"	""	"likely benign"	""
"0000282270"	"0"	"10"	"9"	"137711997"	"137711997"	"subst"	"0.368319"	"02325"	"COL5A1_000057"	"g.137711997G>C"	""	""	""	"COL5A1(NM_000093.5):c.4482G>C (p.P1494=), LOC101448202(NR_103451.2):n.129C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134820151G>C"	""	"benign"	""
"0000341111"	"0"	"50"	"9"	"137697059"	"137697059"	"subst"	"3.6553E-5"	"02327"	"COL5A1_000183"	"g.137697059C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.134805213C>T"	""	"VUS"	""
"0000405953"	"3"	"37"	"9"	"137642654"	"137642654"	"subst"	"0.0347998"	"02552"	"COL5A1_000026"	"g.137642654G>A"	""	"{PMID:Papuc et al., 2019:30552426}"	""	""	""	"Germline"	""	"rs61735045"	"0"	""	""	"g.134750808G>A"	""	"likely benign"	""
"0000536994"	"0"	"30"	"9"	"137534115"	"137534117"	"dup"	"0"	"02329"	"COL5A1_000340"	"g.137534115_137534117dup"	""	""	""	"COL5A1(NM_000093.5):c.82_84dupCTG (p.L28dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134642269_134642271dup"	""	"likely benign"	""
"0000536995"	"0"	"30"	"9"	"137534122"	"137534122"	"subst"	"0"	"01943"	"COL5A1_000341"	"g.137534122C>T"	""	""	""	"COL5A1(NM_000093.4):c.89C>T (p.A30V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134642276C>T"	""	"likely benign"	""
"0000536996"	"0"	"30"	"9"	"137591755"	"137591755"	"subst"	"0.00195231"	"01943"	"COL5A1_000070"	"g.137591755C>T"	""	""	""	"COL5A1(NM_000093.4):c.278C>T (p.A93V), COL5A1(NM_000093.5):c.278C>T (p.A93V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134699909C>T"	""	"likely benign"	""
"0000536997"	"0"	"30"	"9"	"137591755"	"137591755"	"subst"	"0.00195231"	"02326"	"COL5A1_000070"	"g.137591755C>T"	""	""	""	"COL5A1(NM_000093.4):c.278C>T (p.A93V), COL5A1(NM_000093.5):c.278C>T (p.A93V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134699909C>T"	""	"likely benign"	""
"0000536998"	"0"	"30"	"9"	"137591755"	"137591755"	"subst"	"0.00195231"	"02329"	"COL5A1_000070"	"g.137591755C>T"	""	""	""	"COL5A1(NM_000093.4):c.278C>T (p.A93V), COL5A1(NM_000093.5):c.278C>T (p.A93V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134699909C>T"	""	"likely benign"	""
"0000536999"	"0"	"50"	"9"	"137591818"	"137591818"	"subst"	"0.000572756"	"01943"	"COL5A1_000343"	"g.137591818C>A"	""	""	""	"COL5A1(NM_000093.4):c.341C>A (p.A114D), COL5A1(NM_000093.5):c.341C>A (p.A114D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134699972C>A"	""	"VUS"	""
"0000537000"	"0"	"30"	"9"	"137591818"	"137591818"	"subst"	"0.000572756"	"02326"	"COL5A1_000343"	"g.137591818C>A"	""	""	""	"COL5A1(NM_000093.4):c.341C>A (p.A114D), COL5A1(NM_000093.5):c.341C>A (p.A114D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134699972C>A"	""	"likely benign"	""
"0000537001"	"0"	"10"	"9"	"137591818"	"137591818"	"subst"	"0.000572756"	"02329"	"COL5A1_000343"	"g.137591818C>A"	""	""	""	"COL5A1(NM_000093.4):c.341C>A (p.A114D), COL5A1(NM_000093.5):c.341C>A (p.A114D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134699972C>A"	""	"benign"	""
"0000537002"	"0"	"50"	"9"	"137591847"	"137591847"	"subst"	"0"	"01943"	"COL5A1_000344"	"g.137591847G>C"	""	""	""	"COL5A1(NM_000093.4):c.370G>C (p.G124R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134700001G>C"	""	"VUS"	""
"0000537003"	"0"	"50"	"9"	"137591923"	"137591923"	"subst"	"7.78523E-5"	"01943"	"COL5A1_000345"	"g.137591923C>T"	""	""	""	"COL5A1(NM_000093.4):c.446C>T (p.P149L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134700077C>T"	""	"VUS"	""
"0000537005"	"0"	"30"	"9"	"137593122"	"137593122"	"subst"	"0.000346032"	"01804"	"COL5A1_000347"	"g.137593122C>G"	""	""	""	"COL5A1(NM_000093.3):c.597C>G (p.(Ile199Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134701276C>G"	""	"likely benign"	""
"0000537006"	"0"	"50"	"9"	"137619149"	"137619149"	"subst"	"2.43659E-5"	"01943"	"COL5A1_000348"	"g.137619149G>A"	""	""	""	"COL5A1(NM_000093.4):c.692G>A (p.R231Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134727303G>A"	""	"VUS"	""
"0000537007"	"0"	"30"	"9"	"137619210"	"137619210"	"subst"	"3.65461E-5"	"01943"	"COL5A1_000349"	"g.137619210C>T"	""	""	""	"COL5A1(NM_000093.4):c.753C>T (p.T251=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134727364C>T"	""	"likely benign"	""
"0000537008"	"0"	"30"	"9"	"137619231"	"137619231"	"subst"	"0.000109639"	"01943"	"COL5A1_000350"	"g.137619231T>C"	""	""	""	"COL5A1(NM_000093.4):c.774T>C (p.N258=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134727385T>C"	""	"likely benign"	""
"0000537009"	"0"	"10"	"9"	"137620501"	"137620501"	"subst"	"0.021361"	"02326"	"COL5A1_000351"	"g.137620501G>A"	""	""	""	"COL5A1(NM_000093.4):c.787-15G>A, COL5A1(NM_000093.5):c.787-15G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134728655G>A"	""	"benign"	""
"0000537010"	"0"	"30"	"9"	"137620530"	"137620530"	"subst"	"2.43724E-5"	"01943"	"COL5A1_000352"	"g.137620530C>T"	""	""	""	"COL5A1(NM_000093.4):c.801C>T (p.D267=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134728684C>T"	""	"likely benign"	""
"0000537011"	"0"	"50"	"9"	"137620530"	"137620530"	"subst"	"2.43724E-5"	"02326"	"COL5A1_000352"	"g.137620530C>T"	""	""	""	"COL5A1(NM_000093.4):c.801C>T (p.D267=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134728684C>T"	""	"VUS"	""
"0000537012"	"0"	"50"	"9"	"137620534"	"137620534"	"subst"	"0.000235575"	"01943"	"COL5A1_000185"	"g.137620534G>A"	""	""	""	"COL5A1(NM_000093.4):c.805G>A (p.E269K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134728688G>A"	""	"VUS"	""
"0000537013"	"0"	"30"	"9"	"137622234"	"137622234"	"subst"	"0.0013974"	"01943"	"COL5A1_000354"	"g.137622234G>A"	""	""	""	"COL5A1(NM_000093.4):c.1077G>A (p.E359=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134730388G>A"	""	"likely benign"	""
"0000537014"	"0"	"30"	"9"	"137622315"	"137622315"	"subst"	"0.00064198"	"01943"	"COL5A1_000072"	"g.137622315C>T"	""	""	""	"COL5A1(NM_000093.4):c.1158C>T (p.S386=), COL5A1(NM_000093.5):c.1158C>T (p.S386=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134730469C>T"	""	"likely benign"	""
"0000537015"	"0"	"30"	"9"	"137623389"	"137623389"	"subst"	"0"	"02326"	"COL5A1_000356"	"g.137623389C>T"	""	""	""	"COL5A1(NM_000093.4):c.1212C>T (p.F404=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134731543C>T"	""	"likely benign"	""
"0000537016"	"0"	"50"	"9"	"137623481"	"137623481"	"subst"	"3.6968E-5"	"01804"	"COL5A1_000457"	"g.137623481C>T"	""	""	""	"COL5A1(NM_000093.3):c.1304C>T (p.(Pro435Leu)), COL5A1(NM_000093.4):c.1304C>T (p.P435L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134731635C>T"	""	"VUS"	""
"0000537017"	"0"	"30"	"9"	"137623909"	"137623909"	"subst"	"0.000816197"	"02326"	"COL5A1_000357"	"g.137623909A>G"	""	""	""	"COL5A1(NM_000093.4):c.1333-8A>G, COL5A1(NM_000093.5):c.1333-8A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134732063A>G"	""	"likely benign"	""
"0000537018"	"0"	"30"	"9"	"137623914"	"137623914"	"dup"	"0"	"01943"	"COL5A1_000358"	"g.137623914dup"	""	""	""	"COL5A1(NM_000093.4):c.1333-3dupC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134732068dup"	""	"likely benign"	""
"0000537019"	"0"	"90"	"9"	"137623939"	"137623940"	"ins"	"0"	"02329"	"COL5A1_000359"	"g.137623939_137623940insT"	""	""	""	"COL5A1(NM_000093.5):c.1355_1356insT (p.K452Nfs*164)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134732093_134732094insT"	""	"pathogenic"	""
"0000537020"	"0"	"30"	"9"	"137623967"	"137623967"	"subst"	"0.000946516"	"02326"	"COL5A1_000073"	"g.137623967C>T"	""	""	""	"COL5A1(NM_000093.4):c.1383C>T (p.I461=), COL5A1(NM_000093.5):c.1383C>T (p.I461=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134732121C>T"	""	"likely benign"	""
"0000537021"	"0"	"30"	"9"	"137630308"	"137630309"	"del"	"0"	"02326"	"COL5A1_000459"	"g.137630308_137630309del"	""	""	""	"COL5A1(NM_000093.4):c.1390-12_1390-11delCT, COL5A1(NM_000093.5):c.1390-12_1390-11delCT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134738462_134738463del"	""	"likely benign"	""
"0000537022"	"0"	"30"	"9"	"137630340"	"137630340"	"subst"	"1.62529E-5"	"01943"	"COL5A1_000360"	"g.137630340G>C"	""	""	""	"COL5A1(NM_000093.4):c.1410G>C (p.P470=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134738494G>C"	""	"likely benign"	""
"0000537023"	"0"	"30"	"9"	"137630371"	"137630371"	"subst"	"1.21874E-5"	"01943"	"COL5A1_000361"	"g.137630371C>T"	""	""	""	"COL5A1(NM_000093.4):c.1431+10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134738525C>T"	""	"likely benign"	""
"0000537024"	"0"	"30"	"9"	"137642654"	"137642654"	"subst"	"0.0347998"	"02326"	"COL5A1_000026"	"g.137642654G>A"	""	""	""	"COL5A1(NM_000093.4):c.1588G>A (p.G530S, p.(Gly530Ser)), COL5A1(NM_000093.5):c.1588G>A (p.G530S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134750808G>A"	""	"likely benign"	""
"0000537025"	"0"	"30"	"9"	"137642654"	"137642654"	"subst"	"0.0347998"	"02329"	"COL5A1_000026"	"g.137642654G>A"	""	""	""	"COL5A1(NM_000093.4):c.1588G>A (p.G530S, p.(Gly530Ser)), COL5A1(NM_000093.5):c.1588G>A (p.G530S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134750808G>A"	""	"likely benign"	""
"0000537026"	"0"	"90"	"9"	"137644475"	"137644485"	"dup"	"0"	"02329"	"COL5A1_000362"	"g.137644475_137644485dup"	""	""	""	"COL5A1(NM_000093.5):c.1703_1713dupGGAGACCTGGC (p.P572Gfs*14)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134752629_134752639dup"	""	"pathogenic"	""
"0000537027"	"0"	"50"	"9"	"137645702"	"137645702"	"subst"	"5.69124E-5"	"01943"	"COL5A1_000363"	"g.137645702C>T"	""	""	""	"COL5A1(NM_000093.4):c.1726C>T (p.P576S), COL5A1(NM_000093.5):c.1726C>T (p.P576S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134753856C>T"	""	"VUS"	""
"0000537028"	"0"	"30"	"9"	"137645702"	"137645702"	"subst"	"5.69124E-5"	"02329"	"COL5A1_000363"	"g.137645702C>T"	""	""	""	"COL5A1(NM_000093.4):c.1726C>T (p.P576S), COL5A1(NM_000093.5):c.1726C>T (p.P576S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134753856C>T"	""	"likely benign"	""
"0000537029"	"0"	"50"	"9"	"137650095"	"137650095"	"subst"	"8.94236E-5"	"02326"	"COL5A1_000473"	"g.137650095C>T"	""	""	""	"COL5A1(NM_000093.4):c.1888C>T (p.R630W), COL5A1(NM_000093.5):c.1888C>T (p.R630W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134758249C>T"	""	"VUS"	""
"0000537030"	"0"	"30"	"9"	"137653755"	"137653755"	"subst"	"5.2855E-5"	"02326"	"COL5A1_000260"	"g.137653755C>G"	""	""	""	"COL5A1(NM_000093.4):c.1936-16C>G, COL5A1(NM_000093.5):c.1936-16C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134761909C>G"	""	"likely benign"	""
"0000537031"	"0"	"50"	"9"	"137653784"	"137653784"	"subst"	"0"	"01943"	"COL5A1_000364"	"g.137653784C>T"	""	""	""	"COL5A1(NM_000093.4):c.1949C>T (p.P650L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134761938C>T"	""	"VUS"	""
"0000537032"	"0"	"30"	"9"	"137653802"	"137653802"	"subst"	"0.000158557"	"02326"	"COL5A1_000365"	"g.137653802C>T"	""	""	""	"COL5A1(NM_000093.4):c.1967C>T (p.P656L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134761956C>T"	""	"likely benign"	""
"0000537033"	"0"	"50"	"9"	"137653805"	"137653805"	"subst"	"6.50486E-5"	"02326"	"COL5A1_000261"	"g.137653805C>T"	""	""	""	"COL5A1(NM_000093.4):c.1970C>T (p.P657L), COL5A1(NM_000093.5):c.1970C>T (p.P657L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134761959C>T"	""	"VUS"	""
"0000537035"	"0"	"10"	"9"	"137657550"	"137657550"	"subst"	"0.00070422"	"02326"	"COL5A1_000265"	"g.137657550G>A"	""	""	""	"COL5A1(NM_000093.4):c.2058G>A (p.P686=), COL5A1(NM_000093.5):c.2058G>A (p.P686=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134765704G>A"	""	"benign"	""
"0000537036"	"0"	"30"	"9"	"137657580"	"137657580"	"subst"	"5.70753E-5"	"02325"	"COL5A1_000366"	"g.137657580C>T"	""	""	""	"COL5A1(NM_000093.5):c.2088C>T (p.P696=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134765734C>T"	""	"likely benign"	""
"0000537037"	"0"	"90"	"9"	"137660310"	"137660310"	"del"	"0"	"02329"	"COL5A1_000367"	"g.137660310del"	""	""	""	"COL5A1(NM_000093.5):c.2286delG (p.G763Dfs*41)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134768464del"	""	"pathogenic"	""
"0000537038"	"0"	"50"	"9"	"137664670"	"137664670"	"subst"	"0"	"01943"	"COL5A1_000368"	"g.137664670A>C"	""	""	""	"COL5A1(NM_000093.4):c.2321A>C (p.K774T), COL5A1(NM_000093.5):c.2321A>C (p.K774T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134772824A>C"	""	"VUS"	""
"0000537039"	"0"	"30"	"9"	"137671942"	"137671942"	"subst"	"5.68902E-5"	"01943"	"COL5A1_000369"	"g.137671942G>A"	""	""	""	"COL5A1(NM_000093.4):c.2386-6G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134780096G>A"	""	"likely benign"	""
"0000537040"	"0"	"30"	"9"	"137674623"	"137674623"	"subst"	"0"	"02329"	"COL5A1_000370"	"g.137674623T>G"	""	""	""	"COL5A1(NM_000093.5):c.2484+57T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134782777T>G"	""	"likely benign"	""
"0000537041"	"0"	"30"	"9"	"137674627"	"137674627"	"subst"	"0"	"02329"	"COL5A1_000371"	"g.137674627A>G"	""	""	""	"COL5A1(NM_000093.5):c.2484+61A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134782781A>G"	""	"likely benign"	""
"0000537042"	"0"	"50"	"9"	"137676850"	"137676850"	"subst"	"0"	"02326"	"COL5A1_000372"	"g.137676850C>T"	""	""	""	"COL5A1(NM_000093.4):c.2500C>T (p.P834S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134785004C>T"	""	"VUS"	""
"0000537043"	"0"	"90"	"9"	"137677868"	"137677868"	"subst"	"0"	"02329"	"COL5A1_000374"	"g.137677868G>C"	""	""	""	"COL5A1(NM_000093.5):c.2620G>C (p.G874R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134786022G>C"	""	"pathogenic"	""
"0000537044"	"0"	"30"	"9"	"137688732"	"137688732"	"subst"	"8.12665E-6"	"02326"	"COL5A1_000375"	"g.137688732A>G"	""	""	""	"COL5A1(NM_000093.4):c.2883A>G (p.G961=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134796886A>G"	""	"likely benign"	""
"0000537045"	"0"	"90"	"9"	"137690298"	"137690298"	"dup"	"0"	"02329"	"COL5A1_000376"	"g.137690298dup"	""	""	""	"COL5A1(NM_000093.5):c.2943dupA (p.G982Rfs*32)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134798452dup"	""	"pathogenic"	""
"0000537046"	"0"	"10"	"9"	"137690318"	"137690318"	"subst"	"0.518422"	"02325"	"COL5A1_000377"	"g.137690318A>T"	""	""	""	"COL5A1(NM_000093.5):c.2952+11A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134798472A>T"	""	"benign"	""
"0000537047"	"0"	"10"	"9"	"137690318"	"137690318"	"subst"	"0.518422"	"02329"	"COL5A1_000377"	"g.137690318A>T"	""	""	""	"COL5A1(NM_000093.5):c.2952+11A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134798472A>T"	""	"benign"	""
"0000537048"	"0"	"90"	"9"	"137693835"	"137693835"	"dup"	"0"	"02329"	"COL5A1_000126"	"g.137693835dup"	""	""	""	"COL5A1(NM_000093.5):c.2988dupC (p.G997Rfs*17)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134801989dup"	""	"pathogenic"	""
"0000537049"	"0"	"50"	"9"	"137696837"	"137696837"	"subst"	"0"	"01943"	"COL5A1_000379"	"g.137696837C>T"	""	""	""	"COL5A1(NM_000093.4):c.3131C>T (p.A1044V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134804991C>T"	""	"VUS"	""
"0000537050"	"0"	"50"	"9"	"137696909"	"137696909"	"subst"	"6.49952E-5"	"01943"	"COL5A1_000380"	"g.137696909T>G"	""	""	""	"COL5A1(NM_000093.4):c.3203T>G (p.V1068G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134805063T>G"	""	"VUS"	""
"0000537051"	"0"	"50"	"9"	"137697010"	"137697010"	"subst"	"4.06078E-6"	"01943"	"COL5A1_000381"	"g.137697010G>A"	""	""	""	"COL5A1(NM_000093.4):c.3208G>A (p.A1070T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134805164G>A"	""	"VUS"	""
"0000537052"	"0"	"30"	"9"	"137698067"	"137698067"	"subst"	"0.000101268"	"02326"	"COL5A1_000382"	"g.137698067C>T"	""	""	""	"COL5A1(NM_000093.4):c.3291C>T (p.A1097=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134806221C>T"	""	"likely benign"	""
"0000537053"	"0"	"30"	"9"	"137701064"	"137701064"	"subst"	"0.000109909"	"01943"	"COL5A1_000383"	"g.137701064C>T"	""	""	""	"COL5A1(NM_000093.4):c.3402C>T (p.D1134=), COL5A1(NM_000093.5):c.3402C>T (p.D1134=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134809218C>T"	""	"likely benign"	""
"0000537054"	"0"	"50"	"9"	"137703360"	"137703360"	"subst"	"0"	"02326"	"COL5A1_000221"	"g.137703360C>T"	""	""	""	"COL5A1(NM_000093.4):c.3605C>T (p.P1202L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134811514C>T"	""	"VUS"	""
"0000537055"	"0"	"30"	"9"	"137704300"	"137704300"	"subst"	"4.06174E-6"	"01943"	"COL5A1_000385"	"g.137704300G>A"	""	""	""	"COL5A1(NM_000093.4):c.3696G>A (p.L1232=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134812454G>A"	""	"likely benign"	""
"0000537056"	"0"	"50"	"9"	"137705831"	"137705831"	"subst"	"0.000968406"	"01943"	"COL5A1_000386"	"g.137705831C>T"	""	""	""	"COL5A1(NM_000093.4):c.3855C>T (p.G1285=), COL5A1(NM_000093.5):c.3855C>T (p.G1285=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134813985C>T"	""	"VUS"	""
"0000537057"	"0"	"30"	"9"	"137705831"	"137705831"	"subst"	"0.000968406"	"02326"	"COL5A1_000386"	"g.137705831C>T"	""	""	""	"COL5A1(NM_000093.4):c.3855C>T (p.G1285=), COL5A1(NM_000093.5):c.3855C>T (p.G1285=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134813985C>T"	""	"likely benign"	""
"0000537058"	"0"	"30"	"9"	"137705831"	"137705831"	"subst"	"0.000968406"	"02329"	"COL5A1_000386"	"g.137705831C>T"	""	""	""	"COL5A1(NM_000093.4):c.3855C>T (p.G1285=), COL5A1(NM_000093.5):c.3855C>T (p.G1285=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134813985C>T"	""	"likely benign"	""
"0000537059"	"0"	"50"	"9"	"137705881"	"137705881"	"subst"	"6.08018E-5"	"01943"	"COL5A1_000387"	"g.137705881C>T"	""	""	""	"COL5A1(NM_000093.4):c.3905C>T (p.P1302L, p.(Pro1302Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134814035C>T"	""	"VUS"	""
"0000537060"	"0"	"50"	"9"	"137709645"	"137709645"	"subst"	"8.36134E-6"	"02329"	"COL5A1_000388"	"g.137709645C>T"	""	""	""	"COL5A1(NM_000093.5):c.4198C>T (p.P1400S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134817799C>T"	""	"VUS"	""
"0000537062"	"0"	"50"	"9"	"137710549"	"137710549"	"subst"	"0"	"02326"	"COL5A1_000389"	"g.137710549C>T"	""	""	""	"COL5A1(NM_000093.4):c.4278C>T (p.G1426=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134818703C>T"	""	"VUS"	""
"0000537063"	"0"	"50"	"9"	"137710589"	"137710589"	"subst"	"0"	"01943"	"COL5A1_000390"	"g.137710589C>G"	""	""	""	"COL5A1(NM_000093.4):c.4318C>G (p.R1440G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134818743C>G"	""	"VUS"	""
"0000537064"	"0"	"30"	"9"	"137710863"	"137710863"	"subst"	"0.00187223"	"02326"	"COL5A1_000312"	"g.137710863C>T"	""	""	""	"COL5A1(NM_000093.4):c.4410C>T (p.P1470=), COL5A1(NM_000093.5):c.4410C>T (p.P1470=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134819017C>T"	""	"likely benign"	""
"0000537065"	"0"	"30"	"9"	"137711979"	"137711979"	"subst"	"1.62477E-5"	"01943"	"COL5A1_000391"	"g.137711979C>A"	""	""	""	"COL5A1(NM_000093.4):c.4464C>A (p.I1488=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134820133C>A"	""	"likely benign"	""
"0000537066"	"0"	"10"	"9"	"137711997"	"137711997"	"subst"	"0.0419355"	"01943"	"COL5A1_000058"	"g.137711997G>A"	""	""	""	"COL5A1(NM_000093.4):c.4482G>A (p.P1494=), COL5A1(NM_000093.5):c.4482G>A (p.P1494=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134820151G>A"	""	"benign"	""
"0000537067"	"0"	"30"	"9"	"137713929"	"137713929"	"subst"	"0"	"02329"	"COL5A1_000392"	"g.137713929C>A"	""	""	""	"COL5A1(NM_000093.5):c.4555-14C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134822083C>A"	""	"likely benign"	""
"0000537068"	"0"	"10"	"9"	"137713948"	"137713948"	"subst"	"0.0253255"	"01804"	"COL5A1_000086"	"g.137713948C>T"	""	""	""	"COL5A1(NM_000093.4):c.4560C>T (p.I1520=), COL5A1(NM_000093.5):c.4560C>T (p.(Ile1520=), p.I1520=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134822102C>T"	""	"benign"	""
"0000537069"	"0"	"50"	"9"	"137714878"	"137714878"	"subst"	"7.72082E-5"	"01943"	"COL5A1_000393"	"g.137714878C>T"	""	""	""	"COL5A1(NM_000093.4):c.4643C>T (p.S1548L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134823032C>T"	""	"VUS"	""
"0000537070"	"0"	"50"	"9"	"137716574"	"137716574"	"subst"	"4.06296E-6"	"01943"	"COL5A1_000394"	"g.137716574A>C"	""	""	""	"COL5A1(NM_000093.4):c.4827A>C (p.E1609D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134824728A>C"	""	"VUS"	""
"0000537071"	"0"	"50"	"9"	"137716639"	"137716639"	"subst"	"2.04517E-5"	"01943"	"COL5A1_000395"	"g.137716639C>A"	""	""	""	"COL5A1(NM_000093.4):c.4892C>A (p.T1631K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134824793C>A"	""	"VUS"	""
"0000537072"	"0"	"90"	"9"	"137716700"	"137716700"	"del"	"0"	"02329"	"COL5A1_000396"	"g.137716700del"	""	""	""	"COL5A1(NM_000093.5):c.4953delT (p.D1651Efs*78)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134824854del"	""	"pathogenic"	""
"0000537073"	"0"	"90"	"9"	"137717714"	"137717714"	"dup"	"0"	"02329"	"COL5A1_000142"	"g.137717714dup"	""	""	""	"COL5A1(NM_000093.5):c.5031dupG (p.S1678Vfs*7)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134825868dup"	""	"pathogenic"	""
"0000537074"	"0"	"10"	"9"	"137726950"	"137726950"	"subst"	"0.0118145"	"02329"	"COL5A1_000095"	"g.137726950C>T"	""	""	""	"COL5A1(NM_000093.4):c.5270C>T (p.T1757M), COL5A1(NM_000093.5):c.5270C>T (p.T1757M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134835104C>T"	""	"benign"	""
"0000537075"	"0"	"30"	"9"	"137727030"	"137727030"	"subst"	"0.000762537"	"01943"	"COL5A1_000398"	"g.137727030G>A"	""	""	""	"COL5A1(NM_000093.4):c.5350G>A (p.A1784T), COL5A1(NM_000093.5):c.5350G>A (p.A1784T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134835184G>A"	""	"likely benign"	""
"0000537076"	"0"	"30"	"9"	"137727030"	"137727030"	"subst"	"0.000762537"	"02326"	"COL5A1_000398"	"g.137727030G>A"	""	""	""	"COL5A1(NM_000093.4):c.5350G>A (p.A1784T), COL5A1(NM_000093.5):c.5350G>A (p.A1784T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134835184G>A"	""	"likely benign"	""
"0000537077"	"0"	"30"	"9"	"137727030"	"137727030"	"subst"	"0.000762537"	"02329"	"COL5A1_000398"	"g.137727030G>A"	""	""	""	"COL5A1(NM_000093.4):c.5350G>A (p.A1784T), COL5A1(NM_000093.5):c.5350G>A (p.A1784T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134835184G>A"	""	"likely benign"	""
"0000537078"	"0"	"30"	"9"	"137727061"	"137727061"	"subst"	"0.000152903"	"02326"	"COL5A1_000399"	"g.137727061C>T"	""	""	""	"COL5A1(NM_000093.4):c.5370+11C>T, COL5A1(NM_000093.5):c.5370+11C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134835215C>T"	""	"likely benign"	""
"0000537079"	"0"	"10"	"9"	"137733982"	"137733982"	"subst"	"1.62922E-5"	"02326"	"COL5A1_000400"	"g.137733982A>G"	""	""	""	"COL5A1(NM_000093.4):c.5371-21A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134842136A>G"	""	"benign"	""
"0000611957"	"0"	"50"	"9"	"137582841"	"137582841"	"subst"	"0.00213333"	"01943"	"COL5A1_000203"	"g.137582841C>T"	""	""	""	"COL5A1(NM_000093.4):c.193C>T (p.R65W), COL5A1(NM_000093.5):c.193C>T (p.R65W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134690995C>T"	""	"VUS"	""
"0000611958"	"0"	"30"	"9"	"137622162"	"137622162"	"subst"	"2.84282E-5"	"02326"	"COL5A1_000453"	"g.137622162C>T"	""	""	""	"COL5A1(NM_000093.4):c.1005C>T (p.I335=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134730316C>T"	""	"likely benign"	""
"0000611959"	"0"	"50"	"9"	"137623935"	"137623935"	"subst"	"1.62422E-5"	"01943"	"COL5A1_000402"	"g.137623935G>A"	""	""	""	"COL5A1(NM_000093.4):c.1351G>A (p.E451K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134732089G>A"	""	"VUS"	""
"0000611960"	"0"	"50"	"9"	"137642462"	"137642462"	"subst"	"1.21963E-5"	"01943"	"COL5A1_000403"	"g.137642462C>T"	""	""	""	"COL5A1(NM_000093.4):c.1569C>T (p.P523=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134750616C>T"	""	"VUS"	""
"0000611961"	"0"	"30"	"9"	"137653788"	"137653788"	"subst"	"0.000256104"	"01943"	"COL5A1_000404"	"g.137653788C>T"	""	""	""	"COL5A1(NM_000093.4):c.1953C>T (p.S651=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134761942C>T"	""	"likely benign"	""
"0000611962"	"0"	"50"	"9"	"137671954"	"137671954"	"subst"	"4.06316E-6"	"01943"	"COL5A1_000405"	"g.137671954G>A"	""	""	""	"COL5A1(NM_000093.4):c.2392G>A (p.D798N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134780108G>A"	""	"VUS"	""
"0000611963"	"0"	"50"	"9"	"137676914"	"137676914"	"subst"	"0.000277223"	"01943"	"COL5A1_000406"	"g.137676914C>G"	""	""	""	"COL5A1(NM_000093.4):c.2564C>G (p.P855R), COL5A1(NM_000093.5):c.2564C>G (p.P855R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134785068C>G"	""	"VUS"	""
"0000611964"	"0"	"50"	"9"	"137686949"	"137686949"	"subst"	"3.65815E-5"	"01943"	"COL5A1_000249"	"g.137686949C>T"	""	""	""	"COL5A1(NM_000093.4):c.2722C>T (p.P908S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134795103C>T"	""	"VUS"	""
"0000611965"	"0"	"30"	"9"	"137698079"	"137698079"	"subst"	"4.05422E-5"	"01943"	"COL5A1_000408"	"g.137698079C>T"	""	""	""	"COL5A1(NM_000093.4):c.3303C>T (p.I1101=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134806233C>T"	""	"likely benign"	""
"0000611966"	"0"	"90"	"9"	"137704454"	"137704454"	"subst"	"0"	"02327"	"COL5A1_000411"	"g.137704454C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134812608C>A"	""	"pathogenic"	""
"0000611967"	"0"	"30"	"9"	"137706696"	"137706696"	"subst"	"0"	"01943"	"COL5A1_000412"	"g.137706696C>T"	""	""	""	"COL5A1(NM_000093.4):c.3960C>T (p.A1320=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134814850C>T"	""	"likely benign"	""
"0000611968"	"0"	"10"	"9"	"137709683"	"137709683"	"subst"	"0.0257984"	"01943"	"COL5A1_000310"	"g.137709683G>A"	""	""	""	"COL5A1(NM_000093.4):c.4230+6G>A, COL5A1(NM_000093.5):c.4230+6G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134817837G>A"	""	"benign"	""
"0000611969"	"0"	"10"	"9"	"137713948"	"137713948"	"subst"	"0.0253255"	"01943"	"COL5A1_000086"	"g.137713948C>T"	""	""	""	"COL5A1(NM_000093.4):c.4560C>T (p.I1520=), COL5A1(NM_000093.5):c.4560C>T (p.(Ile1520=), p.I1520=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134822102C>T"	""	"benign"	""
"0000611970"	"0"	"50"	"9"	"137717733"	"137717733"	"subst"	"0"	"01943"	"COL5A1_000414"	"g.137717733G>C"	""	""	""	"COL5A1(NM_000093.4):c.5050G>C (p.D1684H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134825887G>C"	""	"VUS"	""
"0000611971"	"0"	"10"	"9"	"137726950"	"137726950"	"subst"	"0.0118145"	"01943"	"COL5A1_000095"	"g.137726950C>T"	""	""	""	"COL5A1(NM_000093.4):c.5270C>T (p.T1757M), COL5A1(NM_000093.5):c.5270C>T (p.T1757M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134835104C>T"	""	"benign"	""
"0000622204"	"0"	"50"	"9"	"137582793"	"137582793"	"subst"	"2.44061E-5"	"01943"	"COL5A1_000439"	"g.137582793C>T"	""	""	""	"COL5A1(NM_000093.4):c.145C>T (p.H49Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134690947C>T"	""	"VUS"	""
"0000622205"	"0"	"10"	"9"	"137657550"	"137657550"	"subst"	"0.00070422"	"01943"	"COL5A1_000265"	"g.137657550G>A"	""	""	""	"COL5A1(NM_000093.4):c.2058G>A (p.P686=), COL5A1(NM_000093.5):c.2058G>A (p.P686=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134765704G>A"	""	"benign"	""
"0000622206"	"0"	"30"	"9"	"137701143"	"137701143"	"subst"	"0.000580884"	"01943"	"COL5A1_000409"	"g.137701143C>T"	""	""	""	"COL5A1(NM_000093.4):c.3474+7C>T, COL5A1(NM_000093.5):c.3474+7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134809297C>T"	""	"likely benign"	""
"0000622207"	"0"	"30"	"9"	"137703346"	"137703346"	"subst"	"0.000287383"	"02329"	"COL5A1_000410"	"g.137703346C>T"	""	""	""	"COL5A1(NM_000093.4):c.3591C>T (p.D1197=), COL5A1(NM_000093.5):c.3591C>T (p.D1197=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134811500C>T"	""	"likely benign"	""
"0000622208"	"0"	"30"	"9"	"137709647"	"137709647"	"subst"	"3.77008E-5"	"02326"	"COL5A1_000413"	"g.137709647C>T"	""	""	""	"COL5A1(NM_000093.4):c.4200C>T (p.P1400=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134817801C>T"	""	"likely benign"	""
"0000631881"	"21"	"99"	"9"	"137642654"	"137642654"	"subst"	"0.0347998"	"03559"	"COL5A1_000026"	"g.137642654G>A"	"0.02356 (A)"	"{PMID:Errichiello et al., 2021:33189937}"	""	""	""	"Germline"	"yes"	"rs61735045"	"0"	""	""	"g.134750808G>A"	"{CV:38863}"	"likely pathogenic (maternal)"	""
"0000631882"	"11"	"97"	"9"	"137708884"	"137708884"	"subst"	"0.00757317"	"03559"	"COL5A1_000083"	"g.137708884C>T"	"0.00399 (T)"	"{PMID:Errichiello et al., 2021:33189937}"	""	""	""	"Germline"	"yes"	"rs61739195"	"0"	""	""	"g.134817038C>T"	"{CV:136890}"	"likely pathogenic (paternal)"	""
"0000631911"	"0"	"70"	"9"	"137619167"	"137619167"	"subst"	"0"	"01164"	"COL5A1_000415"	"g.137619167G>A"	""	""	""	""	"ACMG: PM2,PM6,PP3,PP4"	"Germline"	""	""	"0"	""	""	"g.134727321G>A"	""	"likely pathogenic"	"ACMG"
"0000652654"	"1"	"50"	"9"	"137623929"	"137623929"	"subst"	"0.000101514"	"03575"	"COL5A1_000416"	"g.137623929C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs374020067}"	"Germline"	""	"rs374020067"	"0"	""	""	"g.134732083C>T"	""	"VUS"	""
"0000652655"	"1"	"50"	"9"	"137642703"	"137642703"	"subst"	"0.000131314"	"03575"	"COL5A1_000469"	"g.137642703C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs557361751}"	"Germline"	""	"rs557361751"	"0"	""	""	"g.134750857C>T"	""	"VUS"	""
"0000652656"	"1"	"30"	"9"	"137674564"	"137674564"	"subst"	"0.00019097"	"03575"	"COL5A1_000417"	"g.137674564C>T"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs185912761}"	"Germline"	""	"rs185912761"	"0"	""	""	"g.134782718C>T"	""	"likely benign"	""
"0000652657"	"1"	"30"	"9"	"137688701"	"137688701"	"subst"	"0.01012"	"03575"	"COL5A1_000079"	"g.137688701A>G"	"77/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"77 heterozygous; {DB:CLININrs61736966}"	"Germline"	""	"rs61736966"	"0"	""	""	"g.134796855A>G"	""	"likely benign"	""
"0000652658"	"1"	"50"	"9"	"137698075"	"137698075"	"subst"	"0.000195898"	"03575"	"COL5A1_000418"	"g.137698075C>T"	"6/2770 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"6 heterozygous, no homozygous; {DB:CLININrs564375308}"	"Germline"	""	"rs564375308"	"0"	""	""	"g.134806229C>T"	""	"VUS"	""
"0000652659"	"1"	"50"	"9"	"137716512"	"137716512"	"subst"	"3.66208E-5"	"03575"	"COL5A1_000419"	"g.137716512G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs377138881}"	"Germline"	""	"rs377138881"	"0"	""	""	"g.134824666G>A"	""	"VUS"	""
"0000653408"	"0"	"50"	"9"	"137676947"	"137676947"	"subst"	"0"	"01164"	"COL5A1_000420"	"g.137676947G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.134785101G>C"	""	"VUS"	"ACMG"
"0000656269"	"0"	"30"	"9"	"137534350"	"137534350"	"subst"	"0"	"02329"	"COL5A1_000421"	"g.137534350C>T"	""	""	""	"COL5A1(NM_000093.5):c.109+208C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134642504C>T"	""	"likely benign"	""
"0000656270"	"0"	"50"	"9"	"137593123"	"137593123"	"subst"	"0.000366458"	"01943"	"COL5A1_000438"	"g.137593123G>A"	""	""	""	"COL5A1(NM_000093.4):c.598G>A (p.D200N), COL5A1(NM_000093.5):c.598G>A (p.D200N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134701277G>A"	""	"VUS"	""
"0000656271"	"0"	"30"	"9"	"137666400"	"137666400"	"subst"	"0"	"02329"	"COL5A1_000422"	"g.137666400G>A"	""	""	""	"COL5A1(NM_000093.5):c.2332-305G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134774554G>A"	""	"likely benign"	""
"0000656272"	"0"	"50"	"9"	"137671987"	"137671987"	"subst"	"4.06448E-6"	"01943"	"COL5A1_000423"	"g.137671987G>A"	""	""	""	"COL5A1(NM_000093.4):c.2425G>A (p.E809K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134780141G>A"	""	"VUS"	""
"0000656273"	"0"	"50"	"9"	"137704329"	"137704329"	"subst"	"8.12341E-6"	"02326"	"COL5A1_000294"	"g.137704329C>T"	""	""	""	"COL5A1(NM_000093.4):c.3725C>T (p.T1242I), COL5A1(NM_000093.5):c.3725C>T (p.(Thr1242Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134812483C>T"	""	"VUS"	""
"0000656274"	"0"	"30"	"9"	"137716694"	"137716694"	"subst"	"0"	"01943"	"COL5A1_000424"	"g.137716694C>A"	""	""	""	"COL5A1(NM_000093.4):c.4947C>A (p.F1649L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134824848C>A"	""	"likely benign"	""
"0000656275"	"0"	"50"	"9"	"137721851"	"137721851"	"subst"	"3.66041E-5"	"01943"	"COL5A1_000425"	"g.137721851C>G"	""	""	""	"COL5A1(NM_000093.4):c.5097C>G (p.N1699K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134830005C>G"	""	"VUS"	""
"0000656276"	"0"	"50"	"9"	"137722022"	"137722022"	"subst"	"0"	"01943"	"COL5A1_000426"	"g.137722022G>A"	""	""	""	"COL5A1(NM_001278074.1):c.5136G>A (p.L1712=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134830176G>A"	""	"VUS"	""
"0000656277"	"0"	"30"	"9"	"137726951"	"137726951"	"subst"	"5.29126E-5"	"02329"	"COL5A1_000427"	"g.137726951G>A"	""	""	""	"COL5A1(NM_000093.5):c.5271G>A (p.T1757=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.134835105G>A"	""	"likely benign"	""
"0000670054"	"3"	"30"	"9"	"137688701"	"137688701"	"subst"	"0.01012"	"03575"	"COL5A1_000079"	"g.137688701A>G"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 homozygous; {DB:CLININrs61736966}"	"Germline"	""	"rs61736966"	"0"	""	""	"g.134796855A>G"	""	"likely benign"	""
"0000673903"	"11"	"90"	"9"	"137696885"	"137696885"	"subst"	"0"	"03731"	"COL5A1_000428"	"g.137696885G>A"	""	"{PMID:Chesneau 2021:33414558}, {DOI:Chesneau 2021:10.1038/s41431-020-00797-3}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.134805039G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000678584"	"0"	"30"	"9"	"137688202"	"137688202"	"subst"	"0.00132786"	"02326"	"COL5A1_000429"	"g.137688202C>T"	""	""	""	"COL5A1(NM_000093.4):c.2800-18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000678585"	"0"	"30"	"9"	"137704480"	"137704480"	"subst"	"9.14796E-6"	"02326"	"COL5A1_000430"	"g.137704480A>G"	""	""	""	"COL5A1(NM_000093.4):c.3774A>G (p.G1258=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000678586"	"0"	"50"	"9"	"137707833"	"137707833"	"subst"	"0.000219309"	"01943"	"COL5A1_000431"	"g.137707833C>T"	""	""	""	"COL5A1(NM_000093.4):c.4121C>T (p.T1374M, p.(Thr1374Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000678587"	"0"	"50"	"9"	"137715268"	"137715268"	"subst"	"4.06065E-6"	"01943"	"COL5A1_000432"	"g.137715268A>C"	""	""	""	"COL5A1(NM_000093.4):c.4651A>C (p.T1551P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000690452"	"0"	"10"	"9"	"137534115"	"137534117"	"del"	"0"	"02329"	"COL5A1_000442"	"g.137534115_137534117del"	""	""	""	"COL5A1(NM_000093.4):c.82_84delCTG (p.L28del), COL5A1(NM_000093.5):c.82_84delCTG (p.L28del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000690453"	"0"	"30"	"9"	"137622153"	"137622153"	"subst"	"0.000223363"	"01943"	"COL5A1_000433"	"g.137622153C>T"	""	""	""	"COL5A1(NM_000093.4):c.996C>T (p.D332=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000690454"	"0"	"30"	"9"	"137676816"	"137676816"	"subst"	"0"	"02326"	"COL5A1_000434"	"g.137676816C>T"	""	""	""	"COL5A1(NM_000093.4):c.2485-19C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000690455"	"0"	"50"	"9"	"137690269"	"137690269"	"subst"	"0"	"02326"	"COL5A1_000435"	"g.137690269G>T"	""	""	""	"COL5A1(NM_000093.4):c.2914G>T (p.D972Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000690456"	"0"	"30"	"9"	"137701143"	"137701143"	"subst"	"0.000580884"	"02326"	"COL5A1_000409"	"g.137701143C>T"	""	""	""	"COL5A1(NM_000093.4):c.3474+7C>T, COL5A1(NM_000093.5):c.3474+7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000690457"	"0"	"30"	"9"	"137704286"	"137704286"	"subst"	"9.74865E-5"	"02326"	"COL5A1_000293"	"g.137704286T>C"	""	""	""	"COL5A1(NM_000093.4):c.3691-9T>C, COL5A1(NM_000093.5):c.3691-9T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000690458"	"0"	"30"	"9"	"137710489"	"137710489"	"subst"	"2.64294E-5"	"02326"	"COL5A1_000436"	"g.137710489C>T"	""	""	""	"COL5A1(NM_000093.4):c.4231-13C>T, COL5A1(NM_000093.5):c.4231-13C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000703481"	"11"	"99"	"9"	"0"	"0"	""	"0"	"03705"	"COL5A1_000164"	"g.?"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703482"	"0"	"51"	"9"	"137534099"	"137534099"	"subst"	"0"	"00085"	"COL5A1_000069"	"g.137534099G>A"	""	""	""	""	""	"Unknown"	""	"rs13288533"	"0"	""	""	""	""	"VUS"	""
"0000703483"	"0"	"99"	"9"	"137534107"	"137534107"	"subst"	"0"	"01819"	"COL5A1_000051"	"g.137534107T>C"	""	"{PMID:Symoens et al., 2009:18972565}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703484"	"0"	"99"	"9"	"137534107"	"137534107"	"subst"	"0"	"01819"	"COL5A1_000050"	"g.137534107T>G"	""	"{PMID:Symoens et al., 2009:18972565}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703485"	"0"	"99"	"9"	"137534120"	"137534120"	"subst"	"0"	"03705"	"COL5A1_000147"	"g.137534120G>A"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703486"	"0"	"99"	"9"	"137582808"	"137582808"	"subst"	"0"	"01819"	"COL5A1_000106"	"g.137582808G>T"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703487"	"11"	"97"	"9"	"137582841"	"137582841"	"subst"	"0.00213333"	"03717"	"COL5A1_000203"	"g.137582841C>T"	""	"{PMID:Junkiert-Czarnecka et al., 2019:30858776}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703488"	"0"	"97"	"9"	"137582841"	"137582841"	"subst"	"0.00213333"	"00085"	"COL5A1_000203"	"g.137582841C>T"	""	"{PMID:Leinøe et al., 2017:28748566}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703489"	"0"	"71"	"9"	"137582842"	"137582842"	"subst"	"0.000377917"	"00085"	"COL5A1_000258"	"g.137582842G>A"	""	"{PMID:Modi et al., 2017:28346524}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000703490"	"0"	"99"	"9"	"137582844"	"137582844"	"subst"	"0"	"03705"	"COL5A1_000175"	"g.137582844C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703491"	"11"	"77"	"9"	"137582913"	"137582913"	"subst"	"0"	"00085"	"COL5A1_000230"	"g.137582913C>T"	""	"{PMID:Mao et al., 2017:28714197}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703492"	"0"	"99"	"9"	"137582926"	"137582926"	"subst"	"0"	"00085"	"COL5A1_000039"	"g.137582926G>T"	""	"{PMID:Wenstrup et al., 2000:10777716}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703493"	"0"	"99"	"9"	"137591753"	"137591753"	"subst"	"0"	"03705"	"COL5A1_000210"	"g.137591753A>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703494"	"0"	"51"	"9"	"137591755"	"137591755"	"subst"	"0.00195231"	"00085"	"COL5A1_000070"	"g.137591755C>T"	""	""	""	""	""	"Unknown"	""	"rs41306397"	"0"	""	""	""	""	"VUS"	""
"0000703495"	"0"	"97"	"9"	"137591788"	"137591788"	"subst"	"0"	"03705"	"COL5A1_000193"	"g.137591788C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703496"	"0"	"97"	"9"	"137591788"	"137591788"	"subst"	"0"	"00085"	"COL5A1_000193"	"g.137591788C>G"	""	"{PMID:Savasta et al., 2015:26110114}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703497"	"21"	"11"	"9"	"137591844"	"137591844"	"subst"	"0.000207204"	"03717"	"COL5A1_000205"	"g.137591844C>G"	""	"{PMID:Junkiert-Czarnecka et al., 2019:30858776}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000703498"	"0"	"11"	"9"	"137591844"	"137591844"	"subst"	"0.000207204"	"00085"	"COL5A1_000205"	"g.137591844C>G"	""	"{PMID:Schubert 2016:26854089}"	""	""	"described as variant of unknown significance, predicted by PROVEAN/SIFT/Condel/SuSPect to be non-damaging, predicted by Polyphen-2 to be damaging"	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000703499"	"0"	"99"	"9"	"137591856"	"137591856"	"subst"	"0"	"01819"	"COL5A1_000107"	"g.137591856C>T"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703500"	"0"	"99"	"9"	"137591856"	"137591856"	"subst"	"0"	"00085"	"COL5A1_000107"	"g.137591856C>T"	""	"{PMID:Morais et al., 2013:24001420}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703501"	"21"	"99"	"9"	"137591897"	"137591897"	"subst"	"0"	"03705"	"COL5A1_000212"	"g.137591897C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703502"	"0"	"99"	"9"	"137591943"	"137591943"	"del"	"0"	"01819"	"COL5A1_000022"	"g.137591943del"	""	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703503"	"0"	"99"	"9"	"137591970"	"137591970"	"subst"	"0"	"01819"	"COL5A1_000029"	"g.137591970T>G"	""	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703504"	"0"	"99"	"9"	"137593020"	"137593020"	"subst"	"0"	"00085"	"COL5A1_000004"	"g.137593020G>A"	""	"{PMID:Mitchell et al., 2009:19370768}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703505"	"11"	"93"	"9"	"137593039"	"137593039"	"subst"	"0.000341791"	"03717"	"COL5A1_000204"	"g.137593039G>T"	""	"{PMID:Junkiert-Czarnecka et al., 2019:30858776}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000703506"	"0"	"97"	"9"	"137593057"	"137593057"	"subst"	"0"	"03705"	"COL5A1_000148"	"g.137593057A>C"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703507"	"0"	"99"	"9"	"137593079"	"137593079"	"dup"	"0"	"01819"	"COL5A1_000108"	"g.137593079dup"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703508"	"21"	"73"	"9"	"137593099"	"137593099"	"subst"	"0.0169378"	"00085"	"COL5A1_000053"	"g.137593099G>A"	""	"{PMID:Grond-Ginsbach et al., 1999:10471441}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000703509"	"0"	"99"	"9"	"137619110"	"137619110"	"subst"	"0"	"00085"	"COL5A1_000048"	"g.137619110A>G"	""	"{PMID:Takahara et al., 2002:12145749}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703510"	"0"	"99"	"9"	"0"	"0"	""	"0"	"03705"	"COL5A1_000194"	"g.?"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703511"	"0"	"99"	"9"	"137619121"	"137619121"	"subst"	"0"	"01819"	"COL5A1_000016"	"g.137619121C>T"	""	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703512"	"0"	"99"	"9"	"137619158"	"137619159"	"dup"	"0"	"01819"	"COL5A1_000110"	"g.137619158_137619159dup"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703513"	"0"	"11"	"9"	"137619195"	"137619195"	"subst"	"0.447041"	"00085"	"COL5A1_000055"	"g.137619195C>T"	""	"{PMID:Grond-Ginsbach et al., 1999:10471441}"	""	""	""	"Unknown"	""	"rs3124299"	"0"	""	""	""	""	"likely benign"	""
"0000703514"	"0"	"99"	"9"	"137619214"	"137619214"	"subst"	"0"	"03711"	"COL5A1_000197"	"g.137619214C>T"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703515"	"0"	"11"	"9"	"137619218"	"137619218"	"subst"	"0.00100297"	"00085"	"COL5A1_000240"	"g.137619218C>T"	""	"{PMID:Omoyinmi et al., 2017:28750028}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000703516"	"0"	"99"	"9"	"137619244"	"137619244"	"subst"	"0"	"03705"	"COL5A1_000198"	"g.137619244G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703517"	"0"	"97"	"9"	"137620520"	"137620520"	"subst"	"2.43744E-5"	"00085"	"COL5A1_000255"	"g.137620520C>T"	""	"{PMID:Emanuela et al., 2019:31891009}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703518"	"0"	"35"	"9"	"137620534"	"137620534"	"subst"	"0.000235575"	"03711"	"COL5A1_000185"	"g.137620534G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000703519"	"0"	"99"	"9"	"137620560"	"137620560"	"subst"	"0"	"03711"	"COL5A1_000190"	"g.137620560C>A"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703520"	"0"	"99"	"9"	"137622080"	"137622080"	"subst"	"0"	"01819"	"COL5A1_000099"	"g.137622080A>G"	""	"{PMID:Symoens et al., 2011:21611149}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703521"	"0"	"99"	"9"	"137622081"	"137622081"	"subst"	"0"	"01819"	"COL5A1_000109"	"g.137622081G>C"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703522"	"11"	"77"	"9"	"137622101"	"137622101"	"subst"	"0.000113837"	"03717"	"COL5A1_000206"	"g.137622101C>T"	""	"{PMID:Junkiert-Czarnecka et al., 2019:30858776}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703523"	"0"	"99"	"9"	"137622101"	"137622101"	"del"	"0"	"00085"	"COL5A1_000253"	"g.137622101del"	""	"{PMID:Wardeh et al., 2018:30455932}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703524"	"0"	"97"	"9"	"137622140"	"137622140"	"subst"	"0.000109665"	"00085"	"COL5A1_000257"	"g.137622140G>A"	""	"{PMID:Omoyinmi et al., 2017:28750028}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703525"	"0"	"99"	"9"	"137622198"	"137622198"	"subst"	"0"	"03705"	"COL5A1_000168"	"g.137622198C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703526"	"0"	"99"	"9"	"137622210"	"137622220"	"del"	"0"	"01819"	"COL5A1_000111"	"g.137622210_137622220del"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703527"	"0"	"51"	"9"	"137622219"	"137622219"	"subst"	"0.00146623"	"00085"	"COL5A1_000071"	"g.137622219C>T"	""	""	""	""	""	"Unknown"	""	"rs61737708"	"0"	""	""	""	""	"VUS"	""
"0000703528"	"1"	"33"	"9"	"137622246"	"137622246"	"subst"	"0"	"03717"	"COL5A1_000207"	"g.137622246C>G"	""	"{PMID:Junkiert-Czarnecka et al., 2019:30858776}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"benign"	""
"0000703529"	"21"	"33"	"9"	"137622246"	"137622246"	"subst"	"0"	"03717"	"COL5A1_000207"	"g.137622246C>G"	""	"{PMID:Junkiert-Czarnecka et al., 2019:30858776}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"benign"	""
"0000703530"	"0"	"11"	"9"	"137622249"	"137622249"	"subst"	"0.0384972"	"00085"	"COL5A1_000054"	"g.137622249C>T"	""	"{PMID:Grond-Ginsbach et al., 1999:10471441}"	""	""	""	"Unknown"	""	"rs41306391"	"0"	""	""	""	""	"likely benign"	""
"0000703531"	"0"	"33"	"9"	"137622272"	"137622272"	"subst"	"4.06646E-6"	"00085"	"COL5A1_000192"	"g.137622272C>A"	""	"{PMID:Ziganshin et al., 2015:26188975}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"benign"	""
"0000703532"	"0"	"51"	"9"	"137622315"	"137622315"	"subst"	"0.00064198"	"00085"	"COL5A1_000072"	"g.137622315C>T"	""	""	""	""	""	"Unknown"	""	"rs61729497"	"0"	""	""	""	""	"VUS"	""
"0000703533"	"0"	"99"	"9"	"137623340"	"137623340"	"subst"	"0"	"03705"	"COL5A1_000149"	"g.137623340A>G"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703534"	"0"	"55"	"9"	"137623350"	"137623350"	"subst"	"1.23255E-5"	"03717"	"COL5A1_000226"	"g.137623350G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000703535"	"0"	"99"	"9"	"137623470"	"137623470"	"del"	"0"	"01819"	"COL5A1_000112"	"g.137623470del"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703536"	"0"	"99"	"9"	"137623944"	"137623944"	"subst"	"0"	"03706"	"COL5A1_000105"	"g.137623944C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703537"	"0"	"99"	"9"	"137623953"	"137623953"	"subst"	"0"	"03705"	"COL5A1_000199"	"g.137623953G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703538"	"0"	"51"	"9"	"137623967"	"137623967"	"subst"	"0.000946516"	"00085"	"COL5A1_000073"	"g.137623967C>T"	""	""	""	""	""	"Unknown"	""	"rs61736827"	"0"	""	""	""	""	"VUS"	""
"0000703539"	"0"	"99"	"9"	"137630332"	"137630332"	"subst"	"0"	"01819"	"COL5A1_000113"	"g.137630332G>T"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703540"	"0"	"99"	"9"	"137630348"	"137630348"	"del"	"0"	"01819"	"COL5A1_000114"	"g.137630348del"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703541"	"0"	"99"	"9"	"137630354"	"137630354"	"subst"	"0"	"01819"	"COL5A1_000115"	"g.137630354G>A"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703542"	"0"	"51"	"9"	"137630361"	"137630361"	"subst"	"0.0144372"	"00085"	"COL5A1_000074"	"g.137630361G>A"	""	""	""	""	""	"Unknown"	""	"rs61729545"	"0"	""	""	""	""	"VUS"	""
"0000703543"	"0"	"99"	"9"	"137630637"	"137630637"	"subst"	"0"	"01819"	"COL5A1_000116"	"g.137630637G>A"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703544"	"0"	"99"	"9"	"137642395"	"137642395"	"del"	"0"	"01819"	"COL5A1_000117"	"g.137642395del"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703545"	"0"	"99"	"9"	"137642425"	"137642425"	"subst"	"0"	"00085"	"COL5A1_000169"	"g.137642425G>T"	""	"{PMID:Yasuda et al., 2013:23891251}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703546"	"0"	"99"	"9"	"137642434"	"137642434"	"dup"	"0"	"03705"	"COL5A1_000173"	"g.137642434dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703547"	"0"	"51"	"9"	"137642459"	"137642459"	"subst"	"0.00158533"	"00085"	"COL5A1_000075"	"g.137642459G>A"	""	""	""	""	""	"Unknown"	""	"rs61737941"	"0"	""	""	""	""	"VUS"	""
"0000703548"	"0"	"93"	"9"	"137642654"	"137642654"	"subst"	"0.0347998"	"01819"	"COL5A1_000026"	"g.137642654G>A"	""	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	"Unknown"	""	"rs61735045"	"0"	""	""	""	""	"VUS"	""
"0000703549"	"0"	"93"	"9"	"137642654"	"137642654"	"subst"	"0.0347998"	"01819"	"COL5A1_000026"	"g.137642654G>A"	""	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	"Unknown"	""	"rs61735045"	"0"	""	""	""	""	"VUS"	""
"0000703550"	"0"	"93"	"9"	"137642654"	"137642654"	"subst"	"0.0347998"	"01819"	"COL5A1_000026"	"g.137642654G>A"	""	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	"Unknown"	""	"rs61735045"	"0"	""	""	""	""	"VUS"	""
"0000703551"	"0"	"93"	"9"	"137642654"	"137642654"	"subst"	"0.0347998"	"01819"	"COL5A1_000026"	"g.137642654G>A"	""	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	"Unknown"	""	"rs61735045"	"0"	""	""	""	""	"VUS"	""
"0000703552"	"21"	"33"	"9"	"137642654"	"137642654"	"subst"	"0.0347998"	"00085"	"COL5A1_000026"	"g.137642654G>A"	""	"{PMID:Giunta et al., 2000:10602121}"	""	""	""	"Unknown"	""	"rs61735045"	"0"	""	""	""	""	"benign"	""
"0000703553"	"3"	"93"	"9"	"137642654"	"137642654"	"subst"	"0.0347998"	"00085"	"COL5A1_000026"	"g.137642654G>A"	""	"{PMID:Giunta et al., 2002:11992482}"	""	""	""	"Unknown"	""	"rs61735045"	"0"	""	""	""	""	"VUS"	""
"0000703554"	"0"	"75"	"9"	"137642654"	"137642654"	"subst"	"0.0347998"	"00085"	"COL5A1_000026"	"g.137642654G>A"	""	"{PMID:Kiss et al., 2018:29725758}"	""	""	""	"Unknown"	""	"rs61735045"	"0"	""	""	""	""	"VUS"	""
"0000703555"	"0"	"11"	"9"	"137642654"	"137642654"	"subst"	"0.0347998"	"00085"	"COL5A1_000026"	"g.137642654G>A"	""	"{PMID:Barbato et al., 2018:29705498}"	""	""	""	"Unknown"	""	"rs61735045"	"0"	""	""	""	""	"likely benign"	""
"0000703556"	"0"	"99"	"9"	"137642667"	"137642667"	"del"	"0"	"00085"	"COL5A1_000067"	"g.137642667del"	""	"{PMID:Viglio et al., 2008:18305566}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703557"	"0"	"99"	"9"	"137642717"	"137642717"	"subst"	"0"	"03705"	"COL5A1_000150"	"g.137642717C>T"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703558"	"0"	"99"	"9"	"137642720"	"137642720"	"subst"	"0"	"00085"	"COL5A1_000005"	"g.137642720C>T"	""	"{PMID:Mitchell et al., 2009:19370768}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703559"	"0"	"11"	"9"	"137642737"	"137642737"	"subst"	"0"	"03717"	"COL5A1_000209"	"g.137642737T>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000703560"	"0"	"99"	"9"	"137644424"	"137644424"	"subst"	"0"	"00085"	"COL5A1_000045"	"g.137644424T>A"	""	"{PMID:Schwarze et al., 2000:10796876}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703561"	"10"	"99"	"9"	"137644433"	"137644433"	"subst"	"0"	"00085"	"COL5A1_000044"	"g.137644433A>G"	""	"{PMID:Bouma et al., 2001:11278977}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703562"	"0"	"99"	"9"	"137644442"	"137644442"	"dup"	"0"	"03711"	"COL5A1_000187"	"g.137644442dup"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703563"	"0"	"99"	"9"	"137646125"	"137646125"	"subst"	"0"	"01819"	"COL5A1_000018"	"g.137646125C>T"	""	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703564"	"0"	"99"	"9"	"137646125"	"137646125"	"subst"	"0"	"01819"	"COL5A1_000018"	"g.137646125C>T"	""	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703565"	"0"	"99"	"9"	"137648638"	"137648638"	"subst"	"0"	"01819"	"COL5A1_000014"	"g.137648638G>T"	""	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703566"	"0"	"99"	"9"	"137650091"	"137650098"	"del"	"0"	"00085"	"COL5A1_000251"	"g.137650091_137650098del"	""	"{PMID:Grelet et al., 2019:31829210}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703567"	"0"	"99"	"9"	"137650113"	"137650113"	"del"	"0"	"01819"	"COL5A1_000118"	"g.137650113del"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703568"	"0"	"99"	"9"	"137653778"	"137653778"	"del"	"0"	"03706"	"COL5A1_000102"	"g.137653778del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703569"	"0"	"99"	"9"	"137653825"	"137653825"	"subst"	"0"	"00085"	"COL5A1_000007"	"g.137653825G>A"	""	"{PMID:Mitchell et al., 2009:19370768}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703570"	"0"	"99"	"9"	"137653825"	"137653825"	"subst"	"0"	"03705"	"COL5A1_000007"	"g.137653825G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703571"	"0"	"77"	"9"	"137653825"	"137653825"	"subst"	"0"	"03717"	"COL5A1_000225"	"g.137653825G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703572"	"0"	"99"	"9"	"137655563"	"137655563"	"del"	"0"	"01819"	"COL5A1_000119"	"g.137655563del"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703573"	"0"	"51"	"9"	"137655580"	"137655580"	"subst"	"0.000699238"	"00085"	"COL5A1_000076"	"g.137655580G>A"	""	""	""	""	""	"Unknown"	""	"rs61737719"	"0"	""	""	""	""	"VUS"	""
"0000703574"	"0"	"99"	"9"	"137655584"	"137655584"	"subst"	"0"	"03706"	"COL5A1_000101"	"g.137655584G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703575"	"0"	"79"	"9"	"137655584"	"137655584"	"subst"	"0"	"03711"	"COL5A1_000186"	"g.137655584G>T"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703576"	"0"	"99"	"9"	"137690258"	"137690258"	"del"	"0"	"03711"	"COL5A1_000188"	"g.137690258del"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703577"	"0"	"99"	"9"	"137658871"	"137658871"	"dup"	"0"	"01819"	"COL5A1_000120"	"g.137658871dup"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703578"	"0"	"99"	"9"	"137658897"	"137658897"	"subst"	"0"	"00085"	"COL5A1_000166"	"g.137658897C>T"	""	"{PMID:Mehta et al., 2012:23997563}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703579"	"0"	"97"	"9"	"137659171"	"137659171"	"dup"	"0"	"00085"	"COL5A1_000256"	"g.137659171dup"	""	"{PMID:Fokstuen et al., 2016:27353043}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703580"	"0"	"77"	"9"	"137660308"	"137660308"	"subst"	"3.65548E-5"	"00085"	"COL5A1_000219"	"g.137660308C>T"	""	"{PMID:Renner et al., 2019:30675029}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703581"	"0"	"99"	"9"	"137666747"	"137666747"	"subst"	"0"	"00085"	"COL5A1_000040"	"g.137666747C>T"	""	"{PMID:Wenstrup et al., 2000:10777716}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703582"	"0"	"99"	"9"	"137666747"	"137666747"	"subst"	"0"	"00085"	"COL5A1_000040"	"g.137666747C>T"	""	"{PMID:Grelet et al., 2019:31829210}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703583"	"0"	"99"	"9"	"137666759"	"137666759"	"subst"	"0"	"01819"	"COL5A1_000121"	"g.137666759G>A"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703584"	"0"	"99"	"9"	"137667021"	"137672900"	"del"	"0"	"01819"	"COL5A1_000122"	"g.137667021_137672900del"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703585"	"0"	"99"	"9"	"137671947"	"137671947"	"subst"	"0"	"00085"	"COL5A1_000008"	"g.137671947G>A"	""	"{PMID:Mitchell et al., 2009:19370768}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703586"	"0"	"99"	"9"	"137671951"	"137671951"	"del"	"0"	"01819"	"COL5A1_000123"	"g.137671951del"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703587"	"0"	"99"	"9"	"137671993"	"137671993"	"subst"	"0"	"00085"	"COL5A1_000038"	"g.137671993G>A"	""	"{PMID:Wenstrup et al., 2000:10777716}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703588"	"0"	"97"	"9"	"137674518"	"137674518"	"subst"	"0"	"03705"	"COL5A1_000151"	"g.137674518A>T"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703589"	"0"	"99"	"9"	"137674567"	"137674567"	"subst"	"0"	"03705"	"COL5A1_000217"	"g.137674567G>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703590"	"0"	"11"	"9"	"137676847"	"137676847"	"subst"	"2.85156E-5"	"03711"	"COL5A1_000181"	"g.137676847C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000703591"	"0"	"79"	"9"	"137676854"	"137676854"	"subst"	"0"	"00085"	"COL5A1_000254"	"g.137676854G>C"	""	"{PMID:Weerakkody et al., 2018:29543232}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703592"	"0"	"59"	"9"	"137676881"	"137676881"	"subst"	"0"	"00085"	"COL5A1_000077"	"g.137676881G>C"	""	""	""	""	""	"Unknown"	""	"rs4440693"	"0"	""	""	""	""	"pathogenic"	""
"0000703593"	"0"	"99"	"9"	"137676902"	"137676903"	"del"	"0"	"03706"	"COL5A1_000100"	"g.137676902_137676903del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703594"	"10"	"11"	"9"	"137676938"	"137676938"	"subst"	"0.000420872"	"03717"	"COL5A1_000202"	"g.137676938A>T"	""	""	""	""	""	"Unknown"	""	"rs139788610"	"0"	""	""	""	""	"likely benign"	""
"0000703595"	"0"	"99"	"9"	"137680989"	"137680989"	"subst"	"0"	"03705"	"COL5A1_000152"	"g.137680989A>G"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703596"	"0"	"99"	"9"	"137681011"	"137681011"	"del"	"0"	"00085"	"COL5A1_000066"	"g.137681011del"	""	"{PMID:Viglio et al., 2008:18305566}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703597"	"0"	"99"	"9"	"137681055"	"137681055"	"subst"	"0"	"01819"	"COL5A1_000020"	"g.137681055G>T"	""	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703598"	"11"	"77"	"9"	"137686949"	"137686949"	"subst"	"3.65815E-5"	"00085"	"COL5A1_000249"	"g.137686949C>T"	""	"{PMID:Kratzsch et al., 2018:29578302}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703599"	"0"	"51"	"9"	"137686951"	"137686951"	"subst"	"0.0259525"	"00085"	"COL5A1_000078"	"g.137686951G>A"	""	""	""	""	""	"Unknown"	""	"rs41310207"	"0"	""	""	""	""	"VUS"	""
"0000703600"	"0"	"99"	"9"	"137687119"	"137687136"	"delins"	"0"	"03705"	"COL5A1_000153"	"g.137687119_137687136delinsA"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703601"	"0"	"99"	"9"	"137687127"	"137687127"	"subst"	"0"	"00085"	"COL5A1_000165"	"g.137687127G>A"	""	"{PMID:Karaa and Stoler, 2013:23762718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703602"	"0"	"99"	"9"	"137687132"	"137687132"	"dup"	"0"	"01819"	"COL5A1_000124"	"g.137687132dup"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703603"	"0"	"99"	"9"	"137688265"	"137688265"	"subst"	"0"	"00085"	"COL5A1_000009"	"g.137688265G>A"	""	"{PMID:Mitchell et al., 2009:19370768}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703604"	"0"	"99"	"9"	"137688692"	"137688692"	"subst"	"0"	"00085"	"COL5A1_000010"	"g.137688692A>C"	""	"{PMID:Mitchell et al., 2009:19370768}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703605"	"0"	"51"	"9"	"137688701"	"137688701"	"subst"	"0.01012"	"00085"	"COL5A1_000079"	"g.137688701A>G"	""	""	""	""	""	"Unknown"	""	"rs61736966"	"0"	""	""	""	""	"VUS"	""
"0000703606"	"0"	"11"	"9"	"137688701"	"137688701"	"subst"	"0.01012"	"00085"	"COL5A1_000079"	"g.137688701A>G"	""	"{PMID:Omoyinmi et al., 2017:28750028}"	""	""	""	"Unknown"	""	"rs61736966"	"0"	""	""	""	""	"likely benign"	""
"0000703607"	"0"	"99"	"9"	"137688740"	"137688740"	"dup"	"0"	"03705"	"COL5A1_000154"	"g.137688740dup"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703608"	"0"	"11"	"9"	"137688741"	"137688741"	"subst"	"0.0409717"	"00085"	"COL5A1_000056"	"g.137688741C>T"	""	"{PMID:Grond-Ginsbach et al., 1999:10471441}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000703609"	"0"	"99"	"9"	"137690253"	"137690253"	"subst"	"0"	"01819"	"COL5A1_000125"	"g.137690253G>A"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703610"	"0"	"99"	"9"	"137690309"	"137690310"	"del"	"0"	"03705"	"COL5A1_000155"	"g.137690309_137690310del"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703611"	"0"	"99"	"9"	"137693835"	"137693835"	"del"	"0"	"03705"	"COL5A1_000156"	"g.137693835del"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703612"	"0"	"99"	"9"	"137693835"	"137693835"	"del"	"0"	"03705"	"COL5A1_000156"	"g.137693835del"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703613"	"0"	"99"	"9"	"137693835"	"137693835"	"del"	"0"	"03705"	"COL5A1_000156"	"g.137693835del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703614"	"0"	"99"	"9"	"137693835"	"137693835"	"dup"	"0"	"01819"	"COL5A1_000126"	"g.137693835dup"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703615"	"0"	"99"	"9"	"137693835"	"137693835"	"dup"	"0"	"03705"	"COL5A1_000126"	"g.137693835dup"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703616"	"0"	"77"	"9"	"137694750"	"137694750"	"subst"	"7.86365E-5"	"03717"	"COL5A1_000222"	"g.137694750C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703617"	"0"	"99"	"9"	"137694764"	"137694764"	"subst"	"0"	"01819"	"COL5A1_000127"	"g.137694764G>T"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703618"	"0"	"99"	"9"	"137694777"	"137694777"	"dup"	"0"	"01819"	"COL5A1_000128"	"g.137694777dup"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703619"	"0"	"99"	"9"	"137694796"	"137694796"	"dup"	"0"	"01819"	"COL5A1_000129"	"g.137694796dup"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703620"	"0"	"99"	"9"	"137694837"	"137694837"	"del"	"0"	"01819"	"COL5A1_000024"	"g.137694837del"	""	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703621"	"0"	"99"	"9"	"137696870"	"137696870"	"subst"	"0"	"03711"	"COL5A1_000182"	"g.137696870T>A"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703622"	"0"	"99"	"9"	"137696887"	"137696887"	"del"	"0"	"03705"	"COL5A1_000178"	"g.137696887del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703623"	"0"	"99"	"9"	"137696890"	"137696890"	"subst"	"0"	"01819"	"COL5A1_000028"	"g.137696890C>T"	""	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703624"	"0"	"99"	"9"	"137696890"	"137696890"	"subst"	"0"	"00085"	"COL5A1_000028"	"g.137696890C>T"	""	"{PMID:Borck et al., 2010:20635400}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703625"	"0"	"99"	"9"	"137697006"	"137697006"	"subst"	"0"	"00085"	"COL5A1_000098"	"g.137697006G>C"	""	"{PMID:Lehnen et al., 2011:21541907}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703626"	"0"	"99"	"9"	"137697017"	"137697017"	"subst"	"0"	"01819"	"COL5A1_000130"	"g.137697017G>A"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703627"	"0"	"31"	"9"	"137697059"	"137697059"	"subst"	"3.6553E-5"	"03711"	"COL5A1_000183"	"g.137697059C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"benign"	""
"0000703628"	"0"	"99"	"9"	"0"	"0"	"delins"	"0"	"01819"	"COL5A1_000131"	"g.?"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703629"	"0"	"99"	"9"	"137698047"	"137698047"	"subst"	"0"	"03705"	"COL5A1_000172"	"g.137698047G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703630"	"0"	"99"	"9"	"137698101"	"137698110"	"del"	"0"	"01819"	"COL5A1_000015"	"g.137698101_137698110del"	""	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703631"	"0"	"99"	"9"	"137698104"	"137698104"	"subst"	"0"	"03705"	"COL5A1_000157"	"g.137698104C>T"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703632"	"0"	"77"	"9"	"137698120"	"137698120"	"subst"	"3.41339E-5"	"00085"	"COL5A1_000220"	"g.137698120C>T"	""	"{PMID:Renner et al., 2019:30675029}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703633"	"0"	"99"	"9"	"137701027"	"137701028"	"delins"	"0"	"03705"	"COL5A1_000213"	"g.137701027_137701028delinsCA"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703634"	"0"	"95"	"9"	"137701031"	"137701093"	"dup"	"0"	"03705"	"COL5A1_000218"	"g.137701031_137701093dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000703635"	"0"	"99"	"9"	"137701044"	"137701044"	"subst"	"0"	"03706"	"COL5A1_000104"	"g.137701044C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703636"	"0"	"99"	"9"	"137701059"	"137701059"	"subst"	"0"	"01819"	"COL5A1_000132"	"g.137701059C>T"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703637"	"0"	"99"	"9"	"137701059"	"137701059"	"subst"	"0"	"01819"	"COL5A1_000132"	"g.137701059C>T"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703638"	"0"	"99"	"9"	"137701059"	"137701059"	"subst"	"0"	"03705"	"COL5A1_000132"	"g.137701059C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703639"	"0"	"11"	"9"	"137701060"	"137701060"	"subst"	"7.44761E-5"	"03717"	"COL5A1_000223"	"g.137701060G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000703640"	"0"	"99"	"9"	"137701075"	"137701075"	"subst"	"0"	"03706"	"COL5A1_000097"	"g.137701075G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703641"	"0"	"99"	"9"	"137701075"	"137701075"	"subst"	"0"	"03705"	"COL5A1_000097"	"g.137701075G>A"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703642"	"21"	"99"	"9"	"137701077"	"137701078"	"delins"	"0"	"03705"	"COL5A1_000174"	"g.137701077_137701078delinsG"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703643"	"10"	"77"	"9"	"137701080"	"137701080"	"subst"	"0.000402887"	"03717"	"COL5A1_000201"	"g.137701080G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703644"	"11"	"15"	"9"	"137701080"	"137701080"	"subst"	"0.000402887"	"03717"	"COL5A1_000201"	"g.137701080G>A"	""	"{PMID:Junkiert-Czarnecka et al., 2019:30858776}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000703645"	"0"	"99"	"9"	"137701112"	"137701112"	"dup"	"0"	"01819"	"COL5A1_000027"	"g.137701112dup"	""	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703646"	"0"	"99"	"9"	"137702110"	"137702110"	"subst"	"0"	"01819"	"COL5A1_000133"	"g.137702110G>A"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703647"	"0"	"99"	"9"	"137703224"	"137703224"	"subst"	"0"	"03705"	"COL5A1_000158"	"g.137703224C>T"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703648"	"0"	"55"	"9"	"137703360"	"137703360"	"subst"	"0"	"00085"	"COL5A1_000221"	"g.137703360C>T"	""	"{PMID:Renner et al., 2019:30675029}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000703649"	"0"	"99"	"9"	"137703435"	"137703435"	"dup"	"0"	"00085"	"COL5A1_000011"	"g.137703435dup"	""	"{PMID:Mitchell et al., 2009:19370768}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703650"	"0"	"99"	"9"	"137704334"	"137704335"	"del"	"0"	"00085"	"COL5A1_000037"	"g.137704334_137704335del"	""	"{PMID:Wenstrup et al., 2000:10777716}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703651"	"0"	"51"	"9"	"137704452"	"137704452"	"del"	"0"	"00085"	"COL5A1_000080"	"g.137704452del"	""	""	""	""	""	"Unknown"	""	"rs35002351"	"0"	""	""	""	""	"VUS"	""
"0000703652"	"0"	"99"	"9"	"137704458"	"137704458"	"del"	"0"	"00085"	"COL5A1_000030"	"g.137704458del"	""	"{PMID:Schwarze et al., 2000:10796876}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703653"	"0"	"99"	"9"	"137704475"	"137704475"	"subst"	"0"	"01819"	"COL5A1_000134"	"g.137704475C>T"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703654"	"0"	"99"	"9"	"137704475"	"137704475"	"subst"	"0"	"01819"	"COL5A1_000134"	"g.137704475C>T"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703655"	"0"	"99"	"9"	"137704475"	"137704475"	"subst"	"0"	"03705"	"COL5A1_000134"	"g.137704475C>T"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703656"	"0"	"99"	"9"	"137704475"	"137704475"	"subst"	"0"	"03705"	"COL5A1_000134"	"g.137704475C>T"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703657"	"21"	"99"	"9"	"137704475"	"137704475"	"subst"	"0"	"03705"	"COL5A1_000134"	"g.137704475C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703658"	"0"	"99"	"9"	"137705828"	"137705828"	"subst"	"0"	"00085"	"COL5A1_000191"	"g.137705828G>T"	""	"{PMID:Ziganshin et al., 2015:26188975}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703659"	"0"	"99"	"9"	"137705850"	"137705850"	"subst"	"0"	"00085"	"COL5A1_000001"	"g.137705850G>A"	""	"{PMID:Mitchell et al., 2009:19370768}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703660"	"0"	"99"	"9"	"137705853"	"137705853"	"subst"	"0"	"01819"	"COL5A1_000145"	"g.137705853C>T"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703661"	"0"	"99"	"9"	"137705863"	"137705863"	"del"	"0"	"00085"	"COL5A1_000033"	"g.137705863del"	""	"{PMID:Schwarze et al., 2000:10796876}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703662"	"0"	"99"	"9"	"137705881"	"137705881"	"del"	"0"	"03705"	"COL5A1_000180"	"g.137705881del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703663"	"0"	"99"	"9"	"137705881"	"137705881"	"dup"	"0"	"00085"	"COL5A1_000034"	"g.137705881dup"	""	"{PMID:Schwarze et al., 2000:10796876}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703664"	"0"	"99"	"9"	"137705885"	"137705885"	"subst"	"0"	"00085"	"COL5A1_000035"	"g.137705885G>T"	""	"{PMID:Nicholls et al., 1996:8950675}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703665"	"0"	"99"	"9"	"137705902"	"137705902"	"subst"	"0.000469235"	"00085"	"COL5A1_000046"	"g.137705902G>A"	""	"{PMID:Schwarze et al., 2000:10796876}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703666"	"0"	"99"	"9"	"137706641"	"137706641"	"subst"	"0"	"01819"	"COL5A1_000135"	"g.137706641A>G"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703667"	"0"	"11"	"9"	"137707437"	"137707437"	"subst"	"0"	"00085"	"COL5A1_000252"	"g.137707437C>T"	""	"{PMID:Grelet et al., 2019:31829210}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000703668"	"0"	"99"	"9"	"137707457"	"137707457"	"del"	"0"	"03705"	"COL5A1_000216"	"g.137707457del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703669"	"0"	"99"	"9"	"137707457"	"137707457"	"dup"	"0"	"01819"	"COL5A1_000136"	"g.137707457dup"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703670"	"21"	"95"	"9"	"137707457"	"137707457"	"dup"	"0"	"03717"	"COL5A1_000136"	"g.137707457dup"	""	"{PMID:Junkiert-Czarnecka et al., 2019:30858776}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000703671"	"21"	"97"	"9"	"137707457"	"137707457"	"dup"	"0"	"03717"	"COL5A1_000136"	"g.137707457dup"	""	"{PMID:Junkiert-Czarnecka et al., 2019:30858776}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703672"	"0"	"51"	"9"	"137707472"	"137707472"	"subst"	"0.00175047"	"00085"	"COL5A1_000081"	"g.137707472C>T"	""	""	""	""	""	"Unknown"	""	"rs61737906"	"0"	""	""	""	""	"VUS"	""
"0000703673"	"21"	"99"	"9"	"137707475"	"137707475"	"subst"	"0"	"03705"	"COL5A1_000167"	"g.137707475G>A"	""	"{PMID:Colombi et al., 2018:29024828}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703674"	"0"	"55"	"9"	"137707475"	"137707475"	"subst"	"0"	"03711"	"COL5A1_000167"	"g.137707475G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000703675"	"0"	"99"	"9"	"137707475"	"137707475"	"subst"	"0"	"03715"	"COL5A1_000167"	"g.137707475G>A"	""	"{PMID:Angwin et al., 2019:31569816}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703676"	"0"	"99"	"9"	"137707475"	"137707475"	"subst"	"0"	"01819"	"COL5A1_000146"	"g.137707475G>T"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703677"	"0"	"99"	"9"	"137707816"	"137707817"	"dup"	"0"	"00085"	"COL5A1_000041"	"g.137707816_137707817dup"	""	"{PMID:Wenstrup et al., 2000:10777716}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703678"	"0"	"51"	"9"	"137707834"	"137707834"	"subst"	"0.147376"	"00085"	"COL5A1_000082"	"g.137707834G>A"	""	""	""	""	""	"Unknown"	""	"rs3827848"	"0"	""	""	""	""	"VUS"	""
"0000703679"	"0"	"99"	"9"	"137708871"	"137708871"	"subst"	"0"	"01819"	"COL5A1_000023"	"g.137708871G>A"	""	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703680"	"0"	"51"	"9"	"137708884"	"137708884"	"subst"	"0.00757317"	"00085"	"COL5A1_000083"	"g.137708884C>T"	""	""	""	""	""	"Unknown"	""	"rs61739195"	"0"	""	""	""	""	"VUS"	""
"0000703681"	"0"	"71"	"9"	"137708884"	"137708884"	"subst"	"0.00757317"	"00085"	"COL5A1_000083"	"g.137708884C>T"	""	"{PMID:Omoyinmi et al., 2017:28750028}"	""	""	""	"Unknown"	""	"rs61739195"	"0"	""	""	""	""	"VUS"	""
"0000703682"	"0"	"71"	"9"	"137708884"	"137708884"	"subst"	"0.00757317"	"00085"	"COL5A1_000083"	"g.137708884C>T"	""	"{PMID:Modi et al., 2017:28346524}"	""	""	""	"Unknown"	""	"rs61739195"	"0"	""	""	""	""	"VUS"	""
"0000703683"	"0"	"99"	"9"	"137708897"	"137708897"	"del"	"0"	"00085"	"COL5A1_000032"	"g.137708897del"	""	"{PMID:Schwarze et al., 2000:10796876}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703684"	"0"	"51"	"9"	"137708911"	"137708911"	"subst"	"3.65494E-5"	"00085"	"COL5A1_000084"	"g.137708911C>T"	""	""	""	""	""	"Unknown"	""	"rs61737942"	"0"	""	""	""	""	"VUS"	""
"0000703685"	"0"	"99"	"9"	"137709625"	"137709625"	"subst"	"0"	"03705"	"COL5A1_000159"	"g.137709625G>A"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703686"	"0"	"99"	"9"	"137709650"	"137709650"	"dup"	"0"	"00085"	"COL5A1_000031"	"g.137709650dup"	""	"{PMID:Schwarze et al., 2000:10796876}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703687"	"0"	"99"	"9"	"137710501"	"137710501"	"subst"	"0"	"01819"	"COL5A1_000137"	"g.137710501G>A"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703688"	"0"	"99"	"9"	"137710505"	"137710505"	"subst"	"0"	"01819"	"COL5A1_000013"	"g.137710505G>T"	""	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703689"	"0"	"55"	"9"	"137710561"	"137710561"	"subst"	"3.7838E-5"	"03717"	"COL5A1_000228"	"g.137710561C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000703690"	"0"	"99"	"9"	"137710562"	"137710563"	"del"	"0"	"01819"	"COL5A1_000019"	"g.137710562_137710563del"	""	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703691"	"0"	"99"	"9"	"137710564"	"137710564"	"del"	"0"	"00085"	"COL5A1_000068"	"g.137710564del"	""	"{PMID:Mátyás et al., 2002:11754104}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703692"	"0"	"99"	"9"	"137710693"	"137710693"	"subst"	"0"	"01819"	"COL5A1_000012"	"g.137710693G>A"	""	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703693"	"0"	"99"	"9"	"137710693"	"137710693"	"subst"	"0"	"01819"	"COL5A1_000012"	"g.137710693G>A"	""	"{PMID:Pallotta et al., 2004:15264295}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703694"	"11"	"99"	"9"	"137710738"	"137710738"	"del"	"0"	"03705"	"COL5A1_000179"	"g.137710738del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703695"	"0"	"99"	"9"	"137710738"	"137710738"	"del"	"0"	"01819"	"COL5A1_000017"	"g.137710738del"	""	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703696"	"0"	"51"	"9"	"137710862"	"137710862"	"subst"	"4.06908E-6"	"00085"	"COL5A1_000085"	"g.137710862C>T"	""	""	""	""	""	"Unknown"	""	"rs41310953"	"0"	""	""	""	""	"VUS"	""
"0000703697"	"0"	"99"	"9"	"137710867"	"137710867"	"del"	"0"	"00085"	"COL5A1_000250"	"g.137710867del"	""	"{PMID:Angwin et al., 2019:31569816}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703698"	"0"	"99"	"9"	"137711962"	"137711962"	"subst"	"0"	"03705"	"COL5A1_000177"	"g.137711962G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703699"	"0"	"99"	"9"	"137711971"	"137711971"	"subst"	"0"	"01819"	"COL5A1_000025"	"g.137711971G>T"	""	"{PMID:Malfait et al., 2005:15580559}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703700"	"0"	"99"	"9"	"137711980"	"137711980"	"subst"	"0"	"00085"	"COL5A1_000002"	"g.137711980G>A"	""	"{PMID:Mitchell et al., 2009:19370768}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703701"	"0"	"99"	"9"	"137711980"	"137711980"	"subst"	"0"	"03705"	"COL5A1_000002"	"g.137711980G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703702"	"10"	"99"	"9"	"137711981"	"137711981"	"subst"	"0"	"00085"	"COL5A1_000049"	"g.137711981G>A"	""	"{PMID:Giunta et al., 2000:10602121}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703703"	"0"	"99"	"9"	"137711989"	"137711989"	"subst"	"0"	"01819"	"COL5A1_000138"	"g.137711989G>A"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703704"	"0"	"99"	"9"	"137711989"	"137711989"	"subst"	"0"	"01819"	"COL5A1_000138"	"g.137711989G>A"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703705"	"0"	"11"	"9"	"137711997"	"137711997"	"subst"	"0.0419355"	"00085"	"COL5A1_000058"	"g.137711997G>A"	""	"{PMID:Grond-Ginsbach et al., 1999:10471441}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000703706"	"0"	"11"	"9"	"137711997"	"137711997"	"subst"	"0.368319"	"00085"	"COL5A1_000057"	"g.137711997G>C"	""	"{PMID:Grond-Ginsbach et al., 1999:10471441}"	""	""	""	"Unknown"	""	"rs3811146"	"0"	""	""	""	""	"likely benign"	""
"0000703707"	"11"	"77"	"9"	"137711998"	"137711998"	"subst"	"0"	"03717"	"COL5A1_000208"	"g.137711998G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703708"	"0"	"99"	"9"	"137712008"	"137712008"	"subst"	"0"	"03705"	"COL5A1_000214"	"g.137712008G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703709"	"0"	"99"	"9"	"137712067"	"137712067"	"subst"	"0"	"01819"	"COL5A1_000139"	"g.137712067C>T"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703710"	"0"	"99"	"9"	"137712067"	"137712067"	"subst"	"0"	"03711"	"COL5A1_000139"	"g.137712067C>T"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703711"	"0"	"51"	"9"	"137713948"	"137713948"	"subst"	"0.0253255"	"00085"	"COL5A1_000086"	"g.137713948C>T"	""	""	""	""	""	"Unknown"	""	"rs2228559"	"0"	""	""	""	""	"VUS"	""
"0000703712"	"0"	"99"	"9"	"137713952"	"137713952"	"subst"	"0"	"03711"	"COL5A1_000184"	"g.137713952G>T"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703713"	"20"	"99"	"9"	"137714845"	"137714845"	"subst"	"0"	"01563"	"COL5A1_000170"	"g.137714845G>T"	""	"{PMID:Monroe et al., 2015:25845371}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703714"	"21"	"99"	"9"	"137715305"	"137715305"	"dup"	"0"	"03705"	"COL5A1_000196"	"g.137715305dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703715"	"0"	"99"	"9"	"137715308"	"137715308"	"subst"	"0"	"01819"	"COL5A1_000103"	"g.137715308G>A"	""	"{PMID:de Leeuw et al. 2012:22302579}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703716"	"0"	"51"	"9"	"137715309"	"137715309"	"subst"	"8.93648E-5"	"00085"	"COL5A1_000087"	"g.137715309C>T"	""	""	""	""	""	"Unknown"	""	"rs61735501"	"0"	""	""	""	""	"VUS"	""
"0000703717"	"0"	"99"	"9"	"137715314"	"137715314"	"dup"	"0"	"00085"	"COL5A1_000052"	"g.137715314dup"	""	"{PMID:Segev et al., 2006:16431952}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703718"	"0"	"99"	"9"	"137716453"	"137716453"	"dup"	"0"	"01819"	"COL5A1_000176"	"g.137716453dup"	""	"{PMID:Nielsen et al., 2014:25122555}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703719"	"0"	"99"	"9"	"137716461"	"137716461"	"del"	"0"	"03705"	"COL5A1_000160"	"g.137716461del"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703720"	"0"	"99"	"9"	"137716467"	"137716467"	"subst"	"0"	"01819"	"COL5A1_000140"	"g.137716467C>T"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703721"	"0"	"99"	"9"	"137716470"	"137716492"	"del"	"0"	"03705"	"COL5A1_000200"	"g.137716470_137716492del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703722"	"0"	"11"	"9"	"137716583"	"137716583"	"subst"	"0.000113792"	"03717"	"COL5A1_000227"	"g.137716583C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000703723"	"0"	"99"	"9"	"137716663"	"137716663"	"subst"	"0"	"01819"	"COL5A1_000141"	"g.137716663G>A"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703724"	"21"	"99"	"9"	"137716663"	"137716663"	"subst"	"0"	"00085"	"COL5A1_000042"	"g.137716663G>C"	""	"{PMID:De Paepe et al., 1997:9042913}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703725"	"0"	"99"	"9"	"137716663"	"137716678"	"del"	"0"	"00085"	"COL5A1_000006"	"g.137716663_137716678del"	""	"{PMID:Mitchell et al., 2009:19370768}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703726"	"0"	"99"	"9"	"137716666"	"137716675"	"del"	"0"	"03705"	"COL5A1_000161"	"g.137716666_137716675del"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703727"	"0"	"99"	"9"	"137717636"	"137717636"	"subst"	"0"	"03705"	"COL5A1_000171"	"g.137717636A>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703728"	"0"	"99"	"9"	"137717636"	"137717636"	"subst"	"0"	"01819"	"COL5A1_000171"	"g.137717636A>G"	""	"{PMID:Nielsen et al., 2014:25122555}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703729"	"0"	"99"	"9"	"137717636"	"137717636"	"subst"	"0"	"01819"	"COL5A1_000171"	"g.137717636A>G"	""	"{PMID:Nielsen et al., 2014:25122555}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703730"	"0"	"99"	"9"	"137717645"	"137717645"	"subst"	"0"	"03705"	"COL5A1_000162"	"g.137717645C>G"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703731"	"0"	"97"	"9"	"137717704"	"137717704"	"del"	"0"	"03717"	"COL5A1_000224"	"g.137717704del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703732"	"0"	"99"	"9"	"137717714"	"137717714"	"dup"	"0"	"01819"	"COL5A1_000142"	"g.137717714dup"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703733"	"0"	"99"	"9"	"0"	"0"	""	"0"	"03705"	"COL5A1_000195"	"g.?"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703734"	"0"	"51"	"9"	"137721870"	"137721870"	"subst"	"0"	"00085"	"COL5A1_000088"	"g.137721870G>C"	""	""	""	""	""	"Unknown"	""	"rs1134039"	"0"	""	""	""	""	"VUS"	""
"0000703735"	"0"	"51"	"9"	"137721872"	"137721872"	"subst"	"0"	"00085"	"COL5A1_000089"	"g.137721872A>G"	""	""	""	""	""	"Unknown"	""	"rs1134040"	"0"	""	""	""	""	"VUS"	""
"0000703736"	"0"	"51"	"9"	"137721874"	"137721874"	"subst"	"0"	"00085"	"COL5A1_000090"	"g.137721874T>A"	""	""	""	""	""	"Unknown"	""	"rs1134041"	"0"	""	""	""	""	"VUS"	""
"0000703737"	"0"	"51"	"9"	"137721881"	"137721881"	"subst"	"0"	"00085"	"COL5A1_000091"	"g.137721881T>G"	""	""	""	""	""	"Unknown"	""	"rs1134042"	"0"	""	""	""	""	"VUS"	""
"0000703738"	"0"	"99"	"9"	"137726806"	"137726806"	"subst"	"0"	"00085"	"COL5A1_000043"	"g.137726806T>A"	""	"{PMID:De Paepe et al., 1997:9042913}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703739"	"0"	"51"	"9"	"137726831"	"137726831"	"subst"	"0.00178255"	"00085"	"COL5A1_000092"	"g.137726831C>T"	""	""	""	""	""	"Unknown"	""	"rs61729558"	"0"	""	""	""	""	"VUS"	""
"0000703740"	"0"	"59"	"9"	"137726842"	"137726842"	"del"	"0"	"00085"	"COL5A1_000093"	"g.137726842del"	""	""	""	""	""	"Unknown"	""	"rs71814129"	"0"	""	""	""	""	"pathogenic"	""
"0000703741"	"0"	"51"	"9"	"137726870"	"137726870"	"subst"	"0.0027224"	"00085"	"COL5A1_000094"	"g.137726870C>T"	""	""	""	""	""	"Unknown"	""	"rs61729481"	"0"	""	""	""	""	"VUS"	""
"0000703742"	"11"	"33"	"9"	"137726947"	"137726947"	"subst"	"0"	"03705"	"COL5A1_000215"	"g.137726947C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"benign"	""
"0000703743"	"0"	"51"	"9"	"137726950"	"137726950"	"subst"	"0.0118145"	"00085"	"COL5A1_000095"	"g.137726950C>T"	""	""	""	""	""	"Unknown"	""	"rs2229817"	"0"	""	""	""	""	"VUS"	""
"0000703744"	"0"	"51"	"9"	"137726950"	"137726950"	"subst"	"0.0118145"	"00085"	"COL5A1_000095"	"g.137726950C>T"	""	"{PMID:Traenka et al., 2019:31903434}"	""	""	""	"Unknown"	""	"rs2229817"	"0"	""	""	""	""	"VUS"	""
"0000703745"	"0"	"71"	"9"	"137726950"	"137726950"	"subst"	"0.0118145"	"00085"	"COL5A1_000095"	"g.137726950C>T"	""	"{PMID:Modi et al., 2017:28346524}"	""	""	""	"Unknown"	""	"rs2229817"	"0"	""	""	""	""	"VUS"	""
"0000703746"	"10"	"99"	"9"	"137726967"	"137726967"	"del"	"0"	"03705"	"COL5A1_000211"	"g.137726967del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703747"	"0"	"99"	"9"	"137726978"	"137726995"	"del"	"0"	"01819"	"COL5A1_000143"	"g.137726978_137726995del"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703748"	"0"	"31"	"9"	"137726991"	"137726991"	"subst"	"4.06726E-6"	"00085"	"COL5A1_000259"	"g.137726991G>A"	""	"{PMID:Seidelmann et al., 2017:28087566}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"benign"	""
"0000703749"	"21"	"97"	"9"	"137727015"	"137727015"	"subst"	"0.000150583"	"00085"	"COL5A1_000229"	"g.137727015A>G"	""	"{PMID:Lin et al., 2019:31239369}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000703750"	"21"	"99"	"9"	"137727053"	"137727056"	"del"	"0"	"00085"	"COL5A1_000036"	"g.137727053_137727056del"	""	"{PMID:Wenstrup et al., 1996:8923000}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703751"	"0"	"51"	"9"	"137734039"	"137734039"	"subst"	"0.000881297"	"00085"	"COL5A1_000096"	"g.137734039G>A"	""	""	""	""	""	"Unknown"	""	"rs61729495"	"0"	""	""	""	""	"VUS"	""
"0000703752"	"0"	"99"	"9"	"137734090"	"137734091"	"del"	"0"	"03705"	"COL5A1_000163"	"g.137734090_137734091del"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703753"	"0"	"99"	"9"	"137734126"	"137734126"	"subst"	"0"	"01819"	"COL5A1_000144"	"g.137734126G>A"	""	"{PMID:Symoens et al., 2012:22696272}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703754"	"0"	"99"	"9"	"137734136"	"137734136"	"subst"	"0"	"00085"	"COL5A1_000003"	"g.137734136G>C"	""	"{PMID:Mitchell et al., 2009:19370768}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000703755"	"0"	"11"	"9"	"137734232"	"137734232"	"subst"	"0"	"00085"	"COL5A1_000059"	"g.137734232C>T"	""	"{PMID:Mátyás et al., 2002:11754104}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000703756"	"0"	"11"	"9"	"137734416"	"137734416"	"subst"	"0"	"00085"	"COL5A1_000060"	"g.137734416C>T"	""	"{PMID:Mokone et al., 2006:16430677}"	""	""	""	"Unknown"	""	"rs12722"	"0"	""	""	""	""	"likely benign"	""
"0000703757"	"0"	"11"	"9"	"137734460"	"137734460"	"subst"	"0"	"00085"	"COL5A1_000061"	"g.137734460C>T"	""	"{PMID:September et al., 2008:18443036}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000703758"	"0"	"11"	"9"	"137734882"	"137734882"	"subst"	"0"	"00085"	"COL5A1_000062"	"g.137734882C>A"	""	"{PMID:September et al., 2008:18443036}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000703759"	"0"	"11"	"9"	"137735043"	"137735043"	"subst"	"0"	"00085"	"COL5A1_000063"	"g.137735043T>C"	""	"{PMID:September et al., 2008:18443036}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000703760"	"0"	"11"	"9"	"137736544"	"137736544"	"subst"	"0"	"00085"	"COL5A1_000064"	"g.137736544G>T"	""	"{PMID:September et al., 2008:18443036}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000703761"	"0"	"11"	"9"	"137736650"	"137736650"	"subst"	"0"	"00085"	"COL5A1_000065"	"g.137736650T>C"	""	"{PMID:September et al., 2008:18443036}"	""	""	""	"Unknown"	""	"rs3128575"	"0"	""	""	""	""	"likely benign"	""
"0000703911"	"3"	"77"	"9"	"193307"	"193312"	"delins"	"0"	"03701"	"COL5A1_000476"	"g.193307_193312delinsT"	""	"{PMID:Alkuraya 2018:29250776}"	""	""	""	"Germline"	"?"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000703974"	"0"	"50"	"9"	"137696873"	"137696873"	"subst"	"0"	"01164"	"COL5A1_000477"	"g.137696873G>A"	""	""	""	""	"ACMG: PM2, PP3"	"Germline"	"?"	""	""	""	""	""	""	"VUS"	"ACMG"
"0000722359"	"0"	"30"	"9"	"137582835"	"137582835"	"subst"	"1.6255E-5"	"01943"	"COL5A1_000478"	"g.137582835G>A"	""	""	""	"COL5A1(NM_000093.4):c.187G>A (p.A63T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722360"	"0"	"50"	"9"	"137620520"	"137620520"	"subst"	"2.43744E-5"	"02326"	"COL5A1_000255"	"g.137620520C>T"	""	""	""	"COL5A1(NM_000093.4):c.791C>T (p.T264M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000722361"	"0"	"30"	"9"	"137623929"	"137623929"	"subst"	"0.000101514"	"01943"	"COL5A1_000416"	"g.137623929C>T"	""	""	""	"COL5A1(NM_000093.4):c.1345C>T (p.R449W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722362"	"0"	"30"	"9"	"137630938"	"137630938"	"subst"	"0"	"02329"	"COL5A1_000479"	"g.137630938C>T"	""	""	""	"COL5A1(NM_000093.5):c.1494+284C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722363"	"0"	"30"	"9"	"137642653"	"137642653"	"subst"	"3.25582E-5"	"02329"	"COL5A1_000468"	"g.137642653C>T"	""	""	""	"COL5A1(NM_000093.4):c.1587C>T (p.G529=), COL5A1(NM_000093.5):c.1587C>T (p.G529=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722364"	"0"	"30"	"9"	"137646188"	"137646188"	"subst"	"2.03467E-5"	"02326"	"COL5A1_000480"	"g.137646188G>A"	""	""	""	"COL5A1(NM_000093.4):c.1827+16G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722365"	"0"	"10"	"9"	"137650150"	"137650150"	"subst"	"0.00553384"	"02329"	"COL5A1_000475"	"g.137650150T>G"	""	""	""	"COL5A1(NM_000093.4):c.1935+8T>G, COL5A1(NM_000093.5):c.1935+8T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000722366"	"0"	"30"	"9"	"137655547"	"137655547"	"subst"	"0.000767987"	"01943"	"COL5A1_000481"	"g.137655547C>T"	""	""	""	"COL5A1(NM_000093.4):c.1998C>T (p.D666=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722367"	"0"	"30"	"9"	"137655698"	"137655698"	"subst"	"0"	"02329"	"COL5A1_000482"	"g.137655698C>T"	""	""	""	"COL5A1(NM_000093.5):c.2034+115C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722368"	"0"	"30"	"9"	"137694796"	"137694796"	"subst"	"0.000181723"	"01943"	"COL5A1_000281"	"g.137694796C>T"	""	""	""	"COL5A1(NM_000093.4):c.3069C>T (p.P1023=), COL5A1(NM_000093.5):c.3069C>T (p.P1023=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722369"	"0"	"30"	"9"	"137710680"	"137710681"	"ins"	"0"	"02326"	"COL5A1_000483"	"g.137710680_137710681insGCC"	""	""	""	"COL5A1(NM_000093.4):c.4339-14_4339-13insGCC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722370"	"0"	"30"	"9"	"137710738"	"137710738"	"subst"	"0.000142264"	"02326"	"COL5A1_000484"	"g.137710738C>T"	""	""	""	"COL5A1(NM_000093.4):c.4383C>T (p.P1461=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722371"	"0"	"30"	"9"	"137711988"	"137711988"	"subst"	"0.000653929"	"01943"	"COL5A1_000485"	"g.137711988C>T"	""	""	""	"COL5A1(NM_000093.4):c.4473C>T (p.I1491=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722372"	"0"	"50"	"9"	"137713965"	"137713965"	"subst"	"1.21864E-5"	"01943"	"COL5A1_000486"	"g.137713965C>T"	""	""	""	"COL5A1(NM_000093.4):c.4577C>T (p.P1526L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000722373"	"0"	"30"	"9"	"137715315"	"137715315"	"subst"	"5.28099E-5"	"02326"	"COL5A1_000487"	"g.137715315G>A"	""	""	""	"COL5A1(NM_000093.4):c.4698G>A (p.P1566=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000733021"	"0"	"90"	"9"	"137534145"	"137534145"	"subst"	"0"	"04004"	"COL5A1_000488"	"g.137534145A>T"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000733022"	"0"	"90"	"9"	"137582763"	"137582764"	"ins"	"0"	"04004"	"COL5A1_000489"	"g.137582764_137582763insCA"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic"	""
"0000733024"	"0"	"90"	"9"	"137591847"	"137591858"	"del"	"0"	"04004"	"COL5A1_000490"	"g.137591847_137591858del"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000733025"	"0"	"70"	"9"	"137593018"	"137593018"	"subst"	"0"	"04004"	"COL5A1_000491"	"g.137593018T>A"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	""	"likely pathogenic"	""
"0000733026"	"0"	"90"	"9"	"137593045"	"137593045"	"del"	"0"	"04004"	"COL5A1_000492"	"g.137593045del"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"pathogenic"	""
"0000733027"	"0"	"90"	"9"	"137619110"	"137619110"	"subst"	"0"	"04004"	"COL5A1_000493"	"g.137619110A>C"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000733028"	"0"	"90"	"9"	"137619185"	"137619188"	"del"	"0"	"04004"	"COL5A1_000494"	"g.137619185_137619188del"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"pathogenic"	""
"0000733029"	"0"	"90"	"9"	"137620551"	"137620551"	"subst"	"0"	"04004"	"COL5A1_000495"	"g.137620551C>G"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline"	""	""	""	""	""	""	""	"pathogenic"	""
"0000733030"	"0"	"90"	"9"	"137623417"	"137623417"	"subst"	"0"	"04004"	"COL5A1_000496"	"g.137623417G>T"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline"	""	""	""	""	""	""	""	"pathogenic"	""
"0000733031"	"0"	"90"	"9"	"137623975"	"137623975"	"subst"	"0"	"04004"	"COL5A1_000497"	"g.137623975T>C"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	"yes"	""	""	""	""	""	""	"pathogenic"	""
"0000733032"	"0"	"90"	"9"	"137642688"	"137642701"	"del"	"0"	"04004"	"COL5A1_000498"	"g.137642688_137642701del"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"pathogenic"	""
"0000733033"	"0"	"90"	"9"	"137642733"	"137642733"	"subst"	"0"	"04004"	"COL5A1_000499"	"g.137642733G>A"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"pathogenic"	""
"0000733034"	"0"	"90"	"9"	"137646125"	"137646125"	"subst"	"0"	"04004"	"COL5A1_000018"	"g.137646125C>T"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline"	""	""	""	""	""	""	""	"pathogenic"	""
"0000733035"	"0"	"90"	"9"	"137648619"	"137648619"	"del"	"0"	"04004"	"COL5A1_000500"	"g.137648619del"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000733036"	"0"	"90"	"9"	"137655584"	"137655584"	"subst"	"0"	"04004"	"COL5A1_000101"	"g.137655584G>A"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	""	"pathogenic"	""
"0000733037"	"0"	"90"	"9"	"137660292"	"137660293"	"del"	"0"	"04004"	"COL5A1_000501"	"g.137660292_137660293del"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"pathogenic"	""
"0000733038"	"0"	"90"	"9"	"137660301"	"137660301"	"subst"	"0"	"04004"	"COL5A1_000502"	"g.137660301G>T"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"pathogenic"	""
"0000733039"	"0"	"90"	"9"	"137664685"	"137664685"	"subst"	"0"	"04004"	"COL5A1_000503"	"g.137664685G>C"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"pathogenic"	""
"0000734565"	"0"	"90"	"9"	"137671994"	"137671994"	"subst"	"0"	"04004"	"COL5A1_000504"	"g.137671994T>G"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000734566"	"0"	"90"	"9"	"137681055"	"137681055"	"subst"	"0"	"04004"	"COL5A1_000505"	"g.137681055G>A"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000734569"	"0"	"90"	"9"	"137688218"	"137688218"	"subst"	"0"	"04004"	"COL5A1_000506"	"g.137688218A>G"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000734600"	"0"	"90"	"9"	"137697019"	"137697020"	"delins"	"0"	"04004"	"COL5A1_000507"	"g.137697019_137697020delinsA"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000734676"	"0"	"90"	"9"	"137701059"	"137701059"	"subst"	"0"	"04004"	"COL5A1_000132"	"g.137701059C>T"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic"	""
"0000734678"	"0"	"90"	"9"	"137703228"	"137703228"	"dup"	"0"	"04004"	"COL5A1_000513"	"g.137703228dup"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000734679"	"0"	"90"	"9"	"137703368"	"137703368"	"subst"	"0"	"04004"	"COL5A1_000514"	"g.137703368C>T"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000734681"	"0"	"90"	"9"	"137704293"	"137704293"	"subst"	"0"	"04004"	"COL5A1_000515"	"g.137704293A>G"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000734682"	"0"	"90"	"9"	"137705841"	"137705841"	"subst"	"0"	"04004"	"COL5A1_000516"	"g.137705841G>T"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000734683"	"0"	"90"	"9"	"137705841"	"137705841"	"subst"	"0"	"04004"	"COL5A1_000516"	"g.137705841G>T"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	""	"likely pathogenic"	""
"0000734716"	"0"	"90"	"9"	"137706751"	"137706751"	"subst"	"0"	"04004"	"COL5A1_000517"	"g.137706751G>A"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	""	"likely pathogenic"	""
"0000734717"	"0"	"90"	"9"	"137707457"	"137707457"	"dup"	"0"	"04004"	"COL5A1_000136"	"g.137707457dup"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	""	"pathogenic"	""
"0000734718"	"0"	"90"	"9"	"137707457"	"137707457"	"dup"	"0"	"04004"	"COL5A1_000136"	"g.137707457dup"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic"	""
"0000734719"	"0"	"90"	"9"	"137707457"	"137707457"	"dup"	"0"	"04004"	"COL5A1_000136"	"g.137707457dup"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic"	""
"0000734720"	"0"	"90"	"9"	"137707457"	"137707457"	"dup"	"0"	"04004"	"COL5A1_000136"	"g.137707457dup"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic"	""
"0000734721"	"0"	"90"	"9"	"137707475"	"137707475"	"subst"	"0"	"04004"	"COL5A1_000167"	"g.137707475G>A"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"pathogenic"	""
"0000734946"	"0"	"90"	"9"	"137709625"	"137709625"	"subst"	"0"	"04004"	"COL5A1_000159"	"g.137709625G>A"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic"	""
"0000734947"	"0"	"90"	"9"	"137710700"	"137710700"	"subst"	"0"	"04004"	"COL5A1_000518"	"g.137710700C>T"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"pathogenic"	""
"0000734949"	"0"	"90"	"9"	"137710883"	"137710883"	"subst"	"0"	"04004"	"COL5A1_000519"	"g.137710883G>A"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	""	"pathogenic"	""
"0000734950"	"0"	"90"	"9"	"137711980"	"137711980"	"subst"	"0"	"04004"	"COL5A1_000002"	"g.137711980G>A"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"pathogenic"	""
"0000734951"	"0"	"90"	"9"	"137711980"	"137711980"	"subst"	"0"	"04004"	"COL5A1_000002"	"g.137711980G>A"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"pathogenic"	""
"0000734952"	"0"	"90"	"9"	"137711980"	"137711980"	"subst"	"0"	"04004"	"COL5A1_000002"	"g.137711980G>A"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	""	"pathogenic"	""
"0000734953"	"0"	"90"	"9"	"137711989"	"137711989"	"subst"	"0"	"04004"	"COL5A1_000138"	"g.137711989G>A"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"pathogenic"	""
"0000734954"	"0"	"90"	"9"	"137714842"	"137714850"	"delins"	"0"	"04004"	"COL5A1_000508"	"g.137714842_137714850delinsCCTCCTCTCT"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000734956"	"0"	"90"	"9"	"137715300"	"137715308"	"del"	"0"	"04004"	"COL5A1_000509"	"g.137715300_137715308del"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.134823454_134823462del"	""	"likely pathogenic"	""
"0000734957"	"0"	"90"	"9"	"137716445"	"137716445"	"subst"	"0"	"04004"	"COL5A1_000520"	"g.137716445G>A"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000734958"	"0"	"90"	"9"	"137716552"	"137716560"	"dup"	"0"	"04004"	"COL5A1_000510"	"g.137716552_137716560dup"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134824706_134824714dup"	""	"likely pathogenic"	""
"0000734960"	"0"	"90"	"9"	"137726865"	"137726865"	"del"	"0"	"04004"	"COL5A1_000511"	"g.137726865del"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.134835019del"	""	"pathogenic"	""
"0000734961"	"0"	"90"	"9"	"137734054"	"137734054"	"dup"	"0"	"04004"	"COL5A1_000512"	"g.137734054dup"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.134842208dup"	""	"likely pathogenic"	""
"0000764871"	"11"	"70"	"9"	"137658887"	"137658887"	"subst"	"0"	"04004"	"COL5A1_000521"	"g.137658887T>G"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	""	"VUS"	""
"0000764872"	"11"	"70"	"9"	"137707455"	"137707455"	"subst"	"2.45357E-5"	"04004"	"COL5A1_000524"	"g.137707455C>G"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	""	"VUS"	""
"0000764873"	"0"	"70"	"9"	"137690311"	"137690311"	"subst"	"0"	"04004"	"COL5A1_000522"	"g.137690311A>G"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"VUS"	""
"0000764874"	"0"	"70"	"9"	"137701032"	"137701032"	"subst"	"5.34222E-6"	"04004"	"COL5A1_000523"	"g.137701032G>A"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	""
"0000764875"	"0"	"70"	"9"	"137710691"	"137710691"	"subst"	"0"	"04004"	"COL5A1_000525"	"g.137710691C>G"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	""	"VUS"	""
"0000788007"	"0"	"50"	"9"	"137534061"	"137534061"	"subst"	"0"	"01164"	"COL5A1_000526"	"g.137534061C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000803945"	"0"	"30"	"9"	"137582842"	"137582842"	"subst"	"0.000377917"	"01943"	"COL5A1_000258"	"g.137582842G>A"	""	""	""	"COL5A1(NM_000093.4):c.194G>A (p.R65Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000803946"	"0"	"30"	"9"	"137593039"	"137593039"	"subst"	"0.000341791"	"02326"	"COL5A1_000204"	"g.137593039G>T"	""	""	""	"COL5A1(NM_000093.4):c.514G>T (p.V172F), COL5A1(NM_000093.5):c.514G>T (p.V172F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000803947"	"0"	"30"	"9"	"137646163"	"137646163"	"subst"	"1.62703E-5"	"02326"	"COL5A1_000527"	"g.137646163C>T"	""	""	""	"COL5A1(NM_000093.4):c.1818C>T (p.P606=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000803948"	"0"	"30"	"9"	"137658307"	"137658307"	"subst"	"0.000617926"	"02326"	"COL5A1_000528"	"g.137658307C>T"	""	""	""	"COL5A1(NM_000093.4):c.2096C>T (p.T699M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000803949"	"0"	"30"	"9"	"137674572"	"137674572"	"subst"	"2.43795E-5"	"01943"	"COL5A1_000529"	"g.137674572C>T"	""	""	""	"COL5A1(NM_000093.4):c.2484+6C>T, COL5A1(NM_000093.5):c.2484+6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000803950"	"0"	"30"	"9"	"137674572"	"137674572"	"subst"	"2.43795E-5"	"02329"	"COL5A1_000529"	"g.137674572C>T"	""	""	""	"COL5A1(NM_000093.4):c.2484+6C>T, COL5A1(NM_000093.5):c.2484+6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000803951"	"0"	"50"	"9"	"137676877"	"137676877"	"subst"	"0"	"01943"	"COL5A1_000530"	"g.137676877G>C"	""	""	""	"COL5A1(NM_000093.4):c.2527G>C (p.E843Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000803952"	"0"	"30"	"9"	"137696989"	"137696989"	"subst"	"3.24865E-5"	"02329"	"COL5A1_000531"	"g.137696989C>G"	""	""	""	"COL5A1(NM_000093.5):c.3205-18C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000803953"	"0"	"90"	"9"	"137697040"	"137697041"	"dup"	"0"	"02329"	"COL5A1_000532"	"g.137697040_137697041dup"	""	""	""	"COL5A1(NM_000093.5):c.3238_3239dupCC (p.G1081Lfs*196)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000803954"	"0"	"90"	"9"	"137704468"	"137704468"	"del"	"0"	"02329"	"COL5A1_000533"	"g.137704468del"	""	""	""	"COL5A1(NM_000093.5):c.3762delT (p.G1255Afs*21)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000803955"	"0"	"30"	"9"	"137705902"	"137705902"	"subst"	"0.000469235"	"02326"	"COL5A1_000046"	"g.137705902G>A"	""	""	""	"COL5A1(NM_000093.4):c.3906+20G>A, COL5A1(NM_000093.5):c.3906+20G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000803956"	"0"	"30"	"9"	"137706723"	"137706723"	"subst"	"0"	"02329"	"COL5A1_000534"	"g.137706723C>G"	""	""	""	"COL5A1(NM_000093.5):c.3987C>G (p.P1329=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000803957"	"0"	"30"	"9"	"137707451"	"137707451"	"subst"	"2.05415E-5"	"01943"	"COL5A1_000535"	"g.137707451C>T"	""	""	""	"COL5A1(NM_000093.4):c.4044C>T (p.G1348=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000803958"	"0"	"30"	"9"	"137707765"	"137707765"	"subst"	"1.21845E-5"	"02329"	"COL5A1_000536"	"g.137707765G>A"	""	""	""	"COL5A1(NM_000093.5):c.4069-16G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000803959"	"0"	"30"	"9"	"137710827"	"137710827"	"subst"	"0.00013005"	"02329"	"COL5A1_000537"	"g.137710827C>T"	""	""	""	"COL5A1(NM_000093.5):c.4393-19C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000803960"	"0"	"90"	"9"	"137711998"	"137711998"	"subst"	"0"	"02329"	"COL5A1_000208"	"g.137711998G>A"	""	""	""	"COL5A1(NM_000093.5):c.4483G>A (p.G1495S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000803961"	"0"	"30"	"9"	"137712073"	"137712073"	"subst"	"1.22204E-5"	"02329"	"COL5A1_000538"	"g.137712073C>T"	""	""	""	"COL5A1(NM_000093.5):c.4554+4C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000803962"	"0"	"30"	"9"	"137715309"	"137715309"	"subst"	"4.06204E-5"	"01943"	"COL5A1_000539"	"g.137715309C>A"	""	""	""	"COL5A1(NM_000093.4):c.4692C>A (p.G1564=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000803963"	"0"	"30"	"9"	"137716454"	"137716454"	"subst"	"2.04905E-5"	"02329"	"COL5A1_000540"	"g.137716454G>A"	""	""	""	"COL5A1(NM_000093.5):c.4707G>A (p.P1569=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000803964"	"0"	"30"	"9"	"137717724"	"137717724"	"subst"	"3.25026E-5"	"01943"	"COL5A1_000541"	"g.137717724G>A"	""	""	""	"COL5A1(NM_000093.4):c.5041G>A (p.V1681I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000814510"	"10"	"70"	"9"	"137623953"	"137623953"	"subst"	"0"	"02544"	"COL5A1_000199"	"g.137623953G>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.134732107G>T"	""	"pathogenic (dominant)"	""
"0000818602"	"0"	"50"	"9"	"137623956"	"137623956"	"subst"	"8.52716E-5"	"00000"	"COL5A1_000542"	"g.137623956C>T"	""	"{PMID:Xu 2020:32246022}"	""	"c.1372C>T, P458S"	"gene might be involved in keratoconus pathogenesis"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.134732110C>T"	""	"VUS"	""
"0000839630"	"0"	"90"	"9"	"137653825"	"137653825"	"subst"	"0"	"03717"	"COL5A1_000225"	"g.137653825G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000839631"	"0"	"99"	"9"	"137623450"	"137623453"	"dup"	"0"	"03717"	"COL5A1_000543"	"g.137623450_137623453dup"	""	""	""	"1273_1276dupAGTC"	""	"Germline"	""	""	"0"	""	""	"g.134731604_134731607dup"	""	"pathogenic"	""
"0000839632"	"0"	"90"	"9"	"137717704"	"137717704"	"del"	"0"	"03717"	"COL5A1_000224"	"g.137717704del"	""	""	""	"5021delC"	""	"Germline"	""	""	"0"	""	""	"g.134825858del"	""	"pathogenic"	""
"0000839633"	"0"	"90"	"9"	"137707457"	"137707457"	"dup"	"0"	"03717"	"COL5A1_000136"	"g.137707457dup"	""	""	""	"4050dupC"	""	"Germline"	""	""	"0"	""	""	"g.134815611dup"	""	"pathogenic"	""
"0000839634"	"0"	"30"	"9"	"137645702"	"137645702"	"subst"	"5.69124E-5"	"03717"	"COL5A1_000363"	"g.137645702C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000839635"	"0"	"30"	"9"	"137694750"	"137694750"	"subst"	"7.86365E-5"	"03717"	"COL5A1_000222"	"g.137694750C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000839636"	"0"	"30"	"9"	"137701060"	"137701060"	"subst"	"7.44761E-5"	"03717"	"COL5A1_000223"	"g.137701060G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000842408"	"11"	"70"	"9"	"137582757"	"137727051"	"del"	"0"	"02343"	"COL5A1_000544"	"g.(137534143_137582757)_(137727051_?)del"	""	""	""	""	"germline mosaicism in father, deletion of COL5A1 exons 2-65 (exon 66 not tested), heterozygous"	"Germline"	""	""	"0"	""	""	"g.(134642297_134690911)_(134835205_?)del"	""	"pathogenic (dominant)"	"ACMG"
"0000842410"	"0"	"50"	"9"	"137582757"	"137727051"	"del"	"0"	"02343"	"COL5A1_000544"	"g.(137534143_137582757)_(137727051_?)del"	""	""	""	""	"Multiexon deletion of exons 2-65 (66 not tested)"	"Unknown"	""	""	"0"	""	""	"g.(134642297_134690911)_(134835205_?)del"	""	"pathogenic"	"ACMG"
"0000852166"	"0"	"50"	"9"	"137619115"	"137619115"	"subst"	"0"	"01943"	"COL5A1_000545"	"g.137619115G>A"	""	""	""	"COL5A1(NM_000093.4):c.658G>A (p.D220N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000852167"	"0"	"30"	"9"	"137630584"	"137630584"	"subst"	"4.87314E-5"	"02326"	"COL5A1_000547"	"g.137630584A>G"	""	""	""	"COL5A1(NM_000093.4):c.1432-8A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000852168"	"0"	"50"	"9"	"137688238"	"137688238"	"subst"	"4.06088E-6"	"02326"	"COL5A1_000550"	"g.137688238G>A"	""	""	""	"COL5A1(NM_000093.4):c.2818G>A (p.G940S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000852169"	"0"	"50"	"9"	"137726851"	"137726851"	"subst"	"0"	"02326"	"COL5A1_000554"	"g.137726851G>C"	""	""	""	"COL5A1(NM_000093.4):c.5171G>C (p.G1724A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000861548"	"0"	"10"	"9"	"137591855"	"137591855"	"subst"	"0.00357601"	"02329"	"COL5A1_000446"	"g.137591855G>T"	""	""	""	"COL5A1(NM_000093.4):c.378G>T (p.Q126H), COL5A1(NM_000093.5):c.378G>T (p.Q126H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000861549"	"0"	"10"	"9"	"137593099"	"137593099"	"subst"	"0.0169378"	"01804"	"COL5A1_000053"	"g.137593099G>A"	""	""	""	"COL5A1(NM_000093.3):c.574G>A (p.(Asp192Asn)), COL5A1(NM_000093.4):c.574G>A (p.D192N), COL5A1(NM_000093.5):c.574G>A (p.D192N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000861550"	"0"	"30"	"9"	"137619117"	"137619117"	"subst"	"8.12434E-6"	"02326"	"COL5A1_000546"	"g.137619117C>T"	""	""	""	"COL5A1(NM_000093.4):c.660C>T (p.D220=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000861551"	"0"	"90"	"9"	"137642395"	"137642395"	"dup"	"0"	"02329"	"COL5A1_000548"	"g.137642395dup"	""	""	""	"COL5A1(NM_000093.5):c.1502dupC (p.G502Wfs*114)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000861552"	"0"	"30"	"9"	"137642420"	"137642420"	"subst"	"2.03265E-5"	"02326"	"COL5A1_000549"	"g.137642420C>T"	""	""	""	"COL5A1(NM_000093.4):c.1527C>T (p.A509=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000861553"	"0"	"30"	"9"	"137655580"	"137655580"	"subst"	"0.000699238"	"02329"	"COL5A1_000076"	"g.137655580G>A"	""	""	""	"COL5A1(NM_000093.4):c.2031G>A (p.E677=), COL5A1(NM_000093.5):c.2031G>A (p.E677=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000861554"	"0"	"50"	"9"	"137698068"	"137698068"	"subst"	"0.00012828"	"01943"	"COL5A1_000551"	"g.137698068G>A"	""	""	""	"COL5A1(NM_000093.4):c.3292G>A (p.A1098T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000861555"	"0"	"30"	"9"	"137704434"	"137704434"	"subst"	"8.37682E-6"	"02329"	"COL5A1_000552"	"g.137704434T>C"	""	""	""	"COL5A1(NM_000093.5):c.3745-17T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000861556"	"0"	"30"	"9"	"137706723"	"137706723"	"subst"	"4.03139E-5"	"01943"	"COL5A1_000300"	"g.137706723C>T"	""	""	""	"COL5A1(NM_000093.4):c.3987C>T (p.P1329=), COL5A1(NM_000093.5):c.3987C>T (p.P1329=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000861557"	"0"	"30"	"9"	"137710699"	"137710699"	"subst"	"4.06451E-6"	"02329"	"COL5A1_000553"	"g.137710699A>G"	""	""	""	"COL5A1(NM_000093.5):c.4344A>G (p.E1448=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000869728"	"0"	"70"	"9"	"137714842"	"137714842"	"subst"	"0"	"04305"	"COL5A1_000555"	"g.137714842A>C"	""	""	""	""	""	"De novo"	""	""	""	""	""	"g.136957272A>C"	""	"likely pathogenic"	"ACMG"
"0000878060"	"20"	"90"	"9"	"137696890"	"137696890"	"subst"	"0"	"02544"	"COL5A1_000028"	"g.137696890C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.134805044C>T"	""	"pathogenic"	""
"0000878066"	"10"	"90"	"9"	"137716559"	"137716559"	"subst"	"0"	"02544"	"COL5A1_000576"	"g.137716559C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.134824713C>G"	""	"pathogenic"	""
"0000878076"	"0"	"50"	"9"	"137650111"	"137650111"	"subst"	"4.0657E-6"	"02544"	"COL5A1_000562"	"g.137650111T>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134758265T>C"	""	"VUS"	""
"0000878077"	"10"	"90"	"9"	"137658852"	"137658852"	"subst"	"0"	"02544"	"COL5A1_000563"	"g.137658852C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.134767006C>T"	""	"pathogenic"	""
"0000878083"	"0"	"70"	"9"	"137710611"	"137710611"	"subst"	"0"	"02544"	"COL5A1_000572"	"g.137710611T>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134818765T>C"	""	"likely pathogenic"	""
"0000878084"	"0"	"90"	"9"	"137582876"	"137582877"	"del"	"0"	"02544"	"COL5A1_000557"	"g.137582876_137582877del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134691030_134691031del"	""	"pathogenic"	""
"0000878086"	"0"	"50"	"9"	"137726971"	"137726971"	"subst"	"0"	"02544"	"COL5A1_000579"	"g.137726971T>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134835125T>A"	""	"VUS"	""
"0000878088"	"0"	"90"	"9"	"137623953"	"137623953"	"subst"	"0"	"02544"	"COL5A1_000199"	"g.137623953G>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134732107G>T"	""	"pathogenic"	""
"0000878090"	"0"	"90"	"9"	"137591969"	"137591969"	"subst"	"0"	"02544"	"COL5A1_000558"	"g.137591969G>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134700123G>T"	""	"pathogenic"	""
"0000878091"	"0"	"50"	"9"	"137726948"	"137726957"	"del"	"0"	"02544"	"COL5A1_000578"	"g.137726948_137726957del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134835102_134835111del"	""	"VUS"	""
"0000878096"	"0"	"50"	"9"	"137582803"	"137582803"	"subst"	"0"	"02544"	"COL5A1_000556"	"g.137582803C>G"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134690957C>G"	""	"VUS"	""
"0000878102"	"0"	"50"	"9"	"137717685"	"137717685"	"subst"	"0"	"02544"	"COL5A1_000577"	"g.137717685A>G"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134825839A>G"	""	"VUS"	""
"0000878104"	"0"	"70"	"9"	"137710589"	"137710589"	"subst"	"0"	"02544"	"COL5A1_000571"	"g.137710589C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134818743C>T"	""	"likely pathogenic"	""
"0000878108"	"0"	"90"	"9"	"137715261"	"137715261"	"subst"	"0"	"02544"	"COL5A1_000574"	"g.137715261G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134823415G>A"	""	"pathogenic"	""
"0000878109"	"10"	"50"	"9"	"137727019"	"137727019"	"subst"	"1.22199E-5"	"02544"	"COL5A1_000580"	"g.137727019C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.134835173C>A"	""	"VUS"	""
"0000878114"	"0"	"50"	"9"	"137676892"	"137676892"	"subst"	"2.85139E-5"	"02544"	"COL5A1_000565"	"g.137676892C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134785046C>T"	""	"VUS"	""
"0000878131"	"0"	"90"	"9"	"137704458"	"137704458"	"dup"	"0"	"02544"	"COL5A1_000568"	"g.137704458dup"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.134812612dup"	""	"pathogenic"	""
"0000878138"	"0"	"50"	"9"	"137709637"	"137709637"	"subst"	"0"	"02544"	"COL5A1_000570"	"g.137709637C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134817791C>T"	""	"VUS"	""
"0000878153"	"0"	"90"	"9"	"137712053"	"137712053"	"del"	"0"	"02544"	"COL5A1_000573"	"g.137712053del"	""	""	""	"4538delG"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134820207del"	""	"pathogenic"	""
"0000878154"	"0"	"90"	"9"	"137690278"	"137690290"	"delins"	"0"	"02544"	"COL5A1_000567"	"g.137690278_137690290delinsT"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134798432_134798444delinsT"	""	"pathogenic"	""
"0000878156"	"0"	"50"	"9"	"137709628"	"137709628"	"subst"	"0"	"02544"	"COL5A1_000569"	"g.137709628C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134817782C>T"	""	"VUS"	""
"0000878163"	"0"	"50"	"9"	"137658888"	"137658888"	"subst"	"0"	"02544"	"COL5A1_000564"	"g.137658888C>G"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134767042C>G"	""	"VUS"	""
"0000878174"	"20"	"90"	"9"	"137717714"	"137717714"	"dup"	"0"	"02544"	"COL5A1_000142"	"g.137717714dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.134825868dup"	""	"pathogenic"	""
"0000878176"	"0"	"70"	"9"	"137630592"	"137630592"	"subst"	"0"	"02544"	"COL5A1_000561"	"g.137630592G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134738746G>A"	""	"likely pathogenic"	""
"0000878180"	"0"	"50"	"9"	"137686972"	"137686972"	"subst"	"0"	"02544"	"COL5A1_000566"	"g.137686972G>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134795126G>C"	""	"VUS"	""
"0000878181"	"0"	"90"	"9"	"137593089"	"137593089"	"del"	"0"	"02544"	"COL5A1_000559"	"g.137593089del"	""	""	""	"564delC"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134701243del"	""	"pathogenic"	""
"0000878192"	"0"	"50"	"9"	"137619125"	"137619125"	"subst"	"0"	"02544"	"COL5A1_000560"	"g.137619125A>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134727279A>C"	""	"VUS"	""
"0000878194"	"0"	"90"	"9"	"137715305"	"137715305"	"del"	"0"	"02544"	"COL5A1_000575"	"g.137715305del"	""	""	""	"4688delC"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134823459del"	""	"pathogenic"	""
"0000878202"	"10"	"50"	"9"	"137734025"	"137734025"	"subst"	"8.12387E-6"	"02544"	"COL5A1_000581"	"g.137734025C>T"	""	"0"	""	""	""	"Germline"	""	""	"0"	""	""	"g.134842179C>T"	""	"VUS"	""
"0000881164"	"0"	"90"	"9"	"137704458"	"137704458"	"dup"	"0"	"02300"	"COL5A1_000568"	"g.137704458dup"	""	"{PMID:Marinakis 2021:34008892}"	""	"c.3751_3752insC"	"ACMG PVS1, PM1, PM2, PP4"	"Germline/De novo (untested)"	""	"rs786205100"	"0"	""	""	"g.134812612dup"	""	"pathogenic (dominant)"	"ACMG"
"0000888703"	"0"	"50"	"9"	"137582793"	"137582793"	"subst"	"2.44061E-5"	"02326"	"COL5A1_000439"	"g.137582793C>T"	""	""	""	"COL5A1(NM_000093.4):c.145C>T (p.H49Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000888704"	"0"	"90"	"9"	"137623340"	"137623340"	"subst"	"0"	"02329"	"COL5A1_000149"	"g.137623340A>G"	""	""	""	"COL5A1(NM_000093.5):c.1165-2A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000888705"	"0"	"30"	"9"	"137623458"	"137623458"	"subst"	"0.000131299"	"02326"	"COL5A1_000582"	"g.137623458G>A"	""	""	""	"COL5A1(NM_000093.4):c.1281G>A (p.P427=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000888706"	"0"	"10"	"9"	"137623909"	"137623909"	"subst"	"0.000816197"	"02329"	"COL5A1_000357"	"g.137623909A>G"	""	""	""	"COL5A1(NM_000093.4):c.1333-8A>G, COL5A1(NM_000093.5):c.1333-8A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000888707"	"0"	"50"	"9"	"137642400"	"137642400"	"subst"	"6.91529E-5"	"02326"	"COL5A1_000583"	"g.137642400C>T"	""	""	""	"COL5A1(NM_000093.4):c.1507C>T (p.R503C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000888708"	"0"	"50"	"9"	"137694768"	"137694768"	"subst"	"1.6597E-5"	"02326"	"COL5A1_000584"	"g.137694768G>A"	""	""	""	"COL5A1(NM_000093.4):c.3041G>A (p.R1014H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000888709"	"0"	"30"	"9"	"137697067"	"137697067"	"subst"	"1.62464E-5"	"02329"	"COL5A1_000284"	"g.137697067C>A"	""	""	""	"COL5A1(NM_000093.4):c.3258+7C>A, COL5A1(NM_000093.5):c.3258+7C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000888710"	"0"	"90"	"9"	"137701059"	"137701059"	"subst"	"0"	"02329"	"COL5A1_000132"	"g.137701059C>T"	""	""	""	"COL5A1(NM_000093.5):c.3397C>T (p.R1133*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000888711"	"0"	"30"	"9"	"137703346"	"137703346"	"subst"	"0.000287383"	"02326"	"COL5A1_000410"	"g.137703346C>T"	""	""	""	"COL5A1(NM_000093.4):c.3591C>T (p.D1197=), COL5A1(NM_000093.5):c.3591C>T (p.D1197=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000888712"	"0"	"90"	"9"	"137704461"	"137704461"	"del"	"0"	"02329"	"COL5A1_000585"	"g.137704461del"	""	""	""	"COL5A1(NM_000093.5):c.3755delG (p.G1252Vfs*24)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000888713"	"0"	"90"	"9"	"137707451"	"137707452"	"ins"	"0"	"02329"	"COL5A1_000586"	"g.137707451_137707452insT"	""	""	""	"COL5A1(NM_000093.5):c.4044_4045insT (p.P1349Sfs*16)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000888714"	"0"	"90"	"9"	"137707457"	"137707457"	"del"	"0"	"02329"	"COL5A1_000216"	"g.137707457del"	""	""	""	"COL5A1(NM_000093.5):c.4050delC (p.G1351Efs*137)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000888715"	"0"	"30"	"9"	"137710457"	"137710457"	"subst"	"0"	"02329"	"COL5A1_000587"	"g.137710457G>A"	""	""	""	"COL5A1(NM_000093.5):c.4231-45G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000888716"	"0"	"30"	"9"	"137710678"	"137710678"	"subst"	"4.0657E-6"	"02326"	"COL5A1_000588"	"g.137710678C>T"	""	""	""	"COL5A1(NM_000093.4):c.4339-16C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000888717"	"0"	"30"	"9"	"137712051"	"137712051"	"subst"	"5.28335E-5"	"02329"	"COL5A1_000589"	"g.137712051C>T"	""	""	""	"COL5A1(NM_000093.5):c.4536C>T (p.S1512=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000888718"	"0"	"30"	"9"	"137717651"	"137717651"	"subst"	"0.00013405"	"02326"	"COL5A1_000321"	"g.137717651C>T"	""	""	""	"COL5A1(NM_000093.4):c.4968C>T (p.V1656=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000902930"	"11"	"70"	"9"	"137591782"	"137591782"	"subst"	"0"	"04419"	"COL5A1_000590"	"g.137591782T>A"	""	"{PMID:Sen and Butler, 2019:31061749}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.134699936T>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000903139"	"0"	"77"	"9"	"137591782"	"137591782"	"subst"	"0"	"00006"	"COL5A1_000590"	"g.137591782T>A"	""	"{PMID:Sen and Butler, 2019:31061749}"	""	""	""	"Germline/De novo (untested)"	"yes"	""	"0"	""	""	"g.134699936T>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000905246"	"0"	"77"	"9"	"137622322"	"137622322"	"subst"	"0"	"02529"	"COL5A1_000591"	"g.137622322G>A"	""	""	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.134730476G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000909266"	"0"	"79"	"9"	"137642390"	"137642390"	"dup"	"0"	"04446"	"COL5A1_000548"	"g.137642390dupC"	""	""	""	""	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	"ACMG"
"0000913107"	"0"	"90"	"9"	"137644448"	"137644466"	"del"	"0"	"02329"	"COL5A1_000592"	"g.137644448_137644466del"	""	""	""	"COL5A1(NM_000093.5):c.1676_1694delGACCAGCTGGCCCGATGGG (p.G559Vfs*17)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000913108"	"0"	"30"	"9"	"137664696"	"137664696"	"subst"	"0.000443111"	"02329"	"COL5A1_000593"	"g.137664696G>A"	""	""	""	"COL5A1(NM_000093.5):c.2331+16G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000913109"	"0"	"30"	"9"	"137686985"	"137686985"	"subst"	"0"	"02329"	"COL5A1_000594"	"g.137686985T>G"	""	""	""	"COL5A1(NM_000093.5):c.2745+13T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000913110"	"0"	"10"	"9"	"137688202"	"137688202"	"subst"	"0.00234711"	"02329"	"COL5A1_000595"	"g.137688202C>A"	""	""	""	"COL5A1(NM_000093.4):c.2800-18C>A, COL5A1(NM_000093.5):c.2800-18C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000913111"	"0"	"30"	"9"	"137715309"	"137715309"	"subst"	"8.93648E-5"	"02329"	"COL5A1_000087"	"g.137715309C>T"	""	""	""	"COL5A1(NM_000093.5):c.4692C>T (p.G1564=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000913112"	"0"	"90"	"9"	"137716453"	"137716453"	"dup"	"0"	"02329"	"COL5A1_000176"	"g.137716453dup"	""	""	""	"COL5A1(NM_000093.5):c.4706dupC (p.E1571Rfs*53)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000913113"	"0"	"30"	"9"	"137716529"	"137716529"	"subst"	"3.25174E-5"	"02326"	"COL5A1_000318"	"g.137716529C>T"	""	""	""	"COL5A1(NM_000093.4):c.4782C>T (p.D1594=), COL5A1(NM_000093.5):c.4782C>T (p.D1594=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000913114"	"0"	"10"	"9"	"137716535"	"137716535"	"subst"	"0.000280408"	"02329"	"COL5A1_000596"	"g.137716535G>C"	""	""	""	"COL5A1(NM_000093.5):c.4788G>C (p.G1596=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000913115"	"0"	"30"	"9"	"137716718"	"137716718"	"del"	"0"	"02329"	"COL5A1_000597"	"g.137716718del"	""	""	""	"COL5A1(NM_000093.5):c.4954+17delG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000913116"	"0"	"50"	"9"	"137726886"	"137726886"	"subst"	"4.08303E-6"	"02326"	"COL5A1_000331"	"g.137726886G>A"	""	""	""	"COL5A1(NM_000093.4):c.5206G>A (p.A1736T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000918086"	"0"	"70"	"9"	"137709658"	"137709659"	"del"	"0"	"04419"	"COL5A1_000600"	"g.137709658_137709659del"	""	"{PMID:Chiu et al., 2020:33109150}"	""	"4211_4212delAG"	"Father has Hx of hypermobility."	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.134817812_134817813del"	""	"likely pathogenic"	"ACMG"
"0000918222"	"0"	"50"	"9"	"137714875"	"137714875"	"subst"	"0"	"03779"	"COL5A1_000607"	"g.137714875C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000918866"	"0"	"90"	"9"	"137710559"	"137710559"	"del"	"0"	"04136"	"COL5A1_000606"	"g.137710559del"	""	"Leone 2023, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.134818713del"	""	"pathogenic"	""
"0000918867"	"0"	"50"	"9"	"137623510"	"137623510"	"subst"	"0"	"04136"	"COL5A1_000602"	"g.137623510G>A"	""	"Leone 2023, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.134731664G>A"	""	"VUS"	""
"0000918869"	"0"	"50"	"9"	"137653805"	"137653805"	"subst"	"0"	"04136"	"COL5A1_000603"	"g.137653805C>G"	""	"Leone 2023, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.134761959C>G"	""	"VUS"	""
"0000918873"	"0"	"70"	"9"	"137707826"	"137707826"	"subst"	"0"	"04136"	"COL5A1_000605"	"g.137707826G>A"	""	"Leone 2023, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.134815980G>A"	""	"likely pathogenic"	""
"0000918879"	"0"	"50"	"9"	"137591920"	"137591920"	"subst"	"0"	"04136"	"COL5A1_000601"	"g.137591920G>A"	""	"Leone 2023, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.134700074G>A"	""	"VUS"	""
"0000918891"	"0"	"50"	"9"	"137642703"	"137642703"	"subst"	"0.000131314"	"04136"	"COL5A1_000469"	"g.137642703C>T"	""	"Leone 2023, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.134750857C>T"	""	"VUS"	""
"0000918895"	"0"	"50"	"9"	"137676905"	"137676905"	"subst"	"4.07432E-6"	"04136"	"COL5A1_000604"	"g.137676905A>C"	""	"Leone 2023, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.134785059A>C"	""	"VUS"	""
"0000920730"	"0"	"90"	"9"	"137544011"	"137637553"	"del"	"0"	"04419"	"COL5A1_000598"	"g.(?_137544011)_(137637553_?)del"	""	"94 kb deletion"	""	"del ex2-11, hg19 137544011-137637553del"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000920731"	"0"	"50"	"9"	"137639015"	"141025921"	"dup"	"0"	"04419"	"COL5A1_000599"	"g.(?_137639015)_(141025921_?)dup"	""	"{PMID:Kuroda 2018:29520887}"	""	"dup ex12067, hg19 137639015-141025921dup"	"3.4 Mb duplication encompassing exons 12-67 of COL5A1, probably preceeded by deletion ex2-11"	"De novo"	""	""	"0"	""	""	""	""	"VUS (!)"	""
"0000922738"	"0"	"51"	"9"	"137686972"	"137686972"	"subst"	"0"	"04419"	"COL5A1_000608"	"g.137686972G>A"	""	"{PMID:Fransen et al., 2021:33737726}"	""	""	"Variant alleles in patients/ Total # of patients =\r\n911/1490"	"Germline"	"yes"	""	"0"	""	""	"g.134795192A>G"	""	"VUS"	""
"0000922739"	"0"	"51"	"9"	"137686906"	"137686906"	"subst"	"0.601766"	"04419"	"COL5A1_000609"	"g.137686906C>T"	""	"{PMID:Fransen et al., 2021:33737726}"	""	""	"Variant alleles in patients/ Total # of patient alleles =\r\n887/1450"	"Germline"	"yes"	""	"0"	""	""	"g.134795060C>T"	""	"VUS"	""
"0000922741"	"1"	"11"	"9"	"137688624"	"137688624"	"subst"	"0"	"04419"	"COL5A1_000610"	"g.137688624A>G"	""	"{PMID:Fransen et al., 2021:33737726}"	""	""	"Variant alleles in patients / Total # of patient alleles =\r\n758/1418"	"Germline"	""	""	"0"	""	""	"g.134796778A>G"	""	"VUS"	""
"0000924994"	"0"	"30"	"9"	"137593098"	"137593098"	"subst"	"0.00188896"	"02326"	"COL5A1_000346"	"g.137593098C>T"	""	""	""	"COL5A1(NM_000093.4):c.573C>T (p.L191=), COL5A1(NM_000093.5):c.573C>T (p.L191=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000924995"	"0"	"10"	"9"	"137593098"	"137593098"	"subst"	"0.00188896"	"02329"	"COL5A1_000346"	"g.137593098C>T"	""	""	""	"COL5A1(NM_000093.4):c.573C>T (p.L191=), COL5A1(NM_000093.5):c.573C>T (p.L191=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000924996"	"0"	"30"	"9"	"137620667"	"137620667"	"subst"	"0.000364294"	"02329"	"COL5A1_000611"	"g.137620667G>A"	""	""	""	"COL5A1(NM_000093.5):c.924+14G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000924997"	"0"	"50"	"9"	"137642661"	"137642661"	"subst"	"3.66405E-5"	"02329"	"COL5A1_000612"	"g.137642661C>T"	""	""	""	"COL5A1(NM_000093.5):c.1595C>T (p.A532V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000924998"	"0"	"30"	"9"	"137644659"	"137644659"	"subst"	"0"	"02329"	"COL5A1_000613"	"g.137644659G>A"	""	""	""	"COL5A1(NM_000093.5):c.1719+168G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000924999"	"0"	"50"	"9"	"137645702"	"137645702"	"subst"	"5.69124E-5"	"02326"	"COL5A1_000363"	"g.137645702C>T"	""	""	""	"COL5A1(NM_000093.4):c.1726C>T (p.P576S), COL5A1(NM_000093.5):c.1726C>T (p.P576S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000925000"	"0"	"30"	"9"	"137650127"	"137650127"	"subst"	"3.25235E-5"	"02329"	"COL5A1_000614"	"g.137650127C>A"	""	""	""	"COL5A1(NM_000093.5):c.1920C>A (p.G640=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925001"	"0"	"30"	"9"	"137664463"	"137664463"	"subst"	"0"	"02329"	"COL5A1_000615"	"g.137664463C>T"	""	""	""	"COL5A1(NM_000093.5):c.2287-173C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925002"	"0"	"30"	"9"	"137664573"	"137664573"	"subst"	"0"	"02329"	"COL5A1_000616"	"g.137664573G>A"	""	""	""	"COL5A1(NM_000093.5):c.2287-63G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925003"	"0"	"30"	"9"	"137674258"	"137674258"	"subst"	"0"	"02329"	"COL5A1_000617"	"g.137674258C>G"	""	""	""	"COL5A1(NM_000093.5):c.2431-255C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925004"	"0"	"30"	"9"	"137676914"	"137676914"	"subst"	"0.000277223"	"02329"	"COL5A1_000406"	"g.137676914C>G"	""	""	""	"COL5A1(NM_000093.4):c.2564C>G (p.P855R), COL5A1(NM_000093.5):c.2564C>G (p.P855R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925005"	"0"	"30"	"9"	"137694853"	"137694853"	"subst"	"0.000129973"	"02329"	"COL5A1_000283"	"g.137694853G>C"	""	""	""	"COL5A1(NM_000093.4):c.3114+12G>C, COL5A1(NM_000093.5):c.3114+12G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925006"	"0"	"30"	"9"	"137698027"	"137698027"	"subst"	"0.000311793"	"02326"	"COL5A1_000285"	"g.137698027C>T"	""	""	""	"COL5A1(NM_000093.4):c.3259-8C>T, COL5A1(NM_000093.5):c.3259-8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925007"	"0"	"30"	"9"	"137705901"	"137705901"	"subst"	"9.51281E-5"	"02326"	"COL5A1_000618"	"g.137705901C>T"	""	""	""	"COL5A1(NM_000093.4):c.3906+19C>T, COL5A1(NM_000093.5):c.3906+19C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925008"	"0"	"30"	"9"	"137709321"	"137709321"	"subst"	"0"	"02329"	"COL5A1_000619"	"g.137709321G>A"	""	""	""	"COL5A1(NM_000093.5):c.4177-303G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925009"	"0"	"30"	"9"	"137709399"	"137709399"	"subst"	"0"	"02329"	"COL5A1_000620"	"g.137709399T>C"	""	""	""	"COL5A1(NM_000093.5):c.4177-225T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925010"	"0"	"30"	"9"	"137716561"	"137716561"	"subst"	"8.12651E-5"	"02326"	"COL5A1_000621"	"g.137716561C>T"	""	""	""	"COL5A1(NM_000093.4):c.4814C>T (p.A1605V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925011"	"0"	"30"	"9"	"137717708"	"137717708"	"subst"	"2.03148E-5"	"02329"	"COL5A1_000622"	"g.137717708C>T"	""	""	""	"COL5A1(NM_000093.5):c.5025C>T (p.A1675=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925012"	"0"	"90"	"9"	"137717708"	"137717708"	"dup"	"0"	"02329"	"COL5A1_000623"	"g.137717708dup"	""	""	""	"COL5A1(NM_000093.5):c.5025dupC (p.G1676Rfs*9)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000925013"	"0"	"30"	"9"	"137721597"	"137721597"	"subst"	"0"	"02329"	"COL5A1_000624"	"g.137721597C>G"	""	""	""	"COL5A1(NM_000093.5):c.5068-225C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000927459"	"0"	"50"	"9"	"137688657"	"137688657"	"subst"	"0.480369"	"04419"	"COL5A1_000625"	"g.137688657A>G"	""	"{PMID:Fransen et al., 2021:33737726}"	""	""	"Variant alleles in patients/ Total number of patient alleles = 694/1414"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134796811A>G"	""	"VUS"	""
"0000927460"	"0"	"50"	"9"	"137690318"	"137690318"	"subst"	"0.518422"	"04419"	"COL5A1_000377"	"g.137690318A>T"	""	"{PMID:Fransen et al., 2021:37733726}"	""	""	"Variant alleles in patients / Total # of patient alleles =\r\n770/1490"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134798472A>T"	""	"VUS"	""
"0000927461"	"21"	"90"	"9"	"137642395"	"137642395"	"del"	"0"	"04419"	"COL5A1_000117"	"g.137642395del"	""	"{PMID:Stock 2021:33498938}"	""	""	"Mother is carrier for c.1502del, father is not. Maternal Grandfather (II-2) has similar phenotype, declined testing."	"Germline"	"yes"	""	"0"	""	""	"g.134750549del"	""	"pathogenic"	"ACMG"
"0000929551"	"0"	"30"	"9"	"137534358"	"137534358"	"subst"	"0"	"02329"	"COL5A1_000626"	"g.137534358C>G"	""	""	""	"COL5A1(NM_000093.5):c.109+216C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000929552"	"0"	"30"	"9"	"137593413"	"137593413"	"subst"	"0"	"02329"	"COL5A1_000627"	"g.137593413G>A"	""	""	""	"COL5A1(NM_000093.5):c.654+234G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000929553"	"0"	"50"	"9"	"137660307"	"137660307"	"subst"	"1.21839E-5"	"02326"	"COL5A1_000628"	"g.137660307C>A"	""	""	""	"COL5A1(NM_000093.4):c.2284C>A (p.(Pro762Thr), p.P762T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000929554"	"0"	"30"	"9"	"137664414"	"137664414"	"subst"	"0"	"02329"	"COL5A1_000629"	"g.137664414A>G"	""	""	""	"COL5A1(NM_000093.5):c.2287-222A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000929555"	"0"	"30"	"9"	"137674717"	"137674717"	"subst"	"0"	"02329"	"COL5A1_000630"	"g.137674717G>A"	""	""	""	"COL5A1(NM_000093.5):c.2484+151G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000929556"	"0"	"30"	"9"	"137677149"	"137677149"	"subst"	"0"	"02329"	"COL5A1_000631"	"g.137677149C>T"	""	""	""	"COL5A1(NM_000093.5):c.2592+207C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000929557"	"0"	"30"	"9"	"137686885"	"137686885"	"subst"	"4.07637E-6"	"02329"	"COL5A1_000632"	"g.137686885G>A"	""	""	""	"COL5A1(NM_000093.5):c.2701-43G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000929558"	"0"	"30"	"9"	"137688744"	"137688744"	"subst"	"2.03497E-5"	"02329"	"COL5A1_000633"	"g.137688744C>G"	""	""	""	"COL5A1(NM_000093.5):c.2895C>G (p.P965=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000929559"	"0"	"30"	"9"	"137693872"	"137693872"	"subst"	"4.06894E-6"	"02329"	"COL5A1_000634"	"g.137693872A>G"	""	""	""	"COL5A1(NM_000093.5):c.3006+19A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000929560"	"0"	"50"	"9"	"137709657"	"137709657"	"subst"	"0"	"02329"	"COL5A1_000635"	"g.137709657C>A"	""	""	""	"COL5A1(NM_000093.5):c.4210C>A (p.Q1404K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000929561"	"0"	"30"	"9"	"137710573"	"137710573"	"subst"	"2.92056E-5"	"02329"	"COL5A1_000636"	"g.137710573C>T"	""	""	""	"COL5A1(NM_000093.5):c.4302C>T (p.P1434=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000929562"	"0"	"30"	"9"	"137712193"	"137712193"	"subst"	"0"	"02329"	"COL5A1_000637"	"g.137712193G>A"	""	""	""	"COL5A1(NM_000093.5):c.4554+124G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000929563"	"0"	"50"	"9"	"137713918"	"137713918"	"subst"	"0"	"02327"	"COL5A1_000638"	"g.137713918A>G"	""	""	""	"COL5A1(NM_000093.5):c.4555-25A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000929564"	"0"	"10"	"9"	"137715300"	"137715300"	"subst"	"0.00124675"	"02329"	"COL5A1_000316"	"g.137715300A>C"	""	""	""	"COL5A1(NM_000093.4):c.4683A>C (p.G1561=), COL5A1(NM_000093.5):c.4683A>C (p.G1561=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000929565"	"0"	"10"	"9"	"137726831"	"137726831"	"subst"	"0.00178255"	"02329"	"COL5A1_000092"	"g.137726831C>T"	""	""	""	"COL5A1(NM_000093.4):c.5151C>T (p.D1717=), COL5A1(NM_000093.5):c.5151C>T (p.D1717=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000945968"	"0"	"30"	"9"	"137658312"	"137658312"	"subst"	"0"	"03779"	"COL5A1_000639"	"g.137658312A>G"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000949220"	"0"	"30"	"9"	"137534069"	"137534069"	"subst"	"1.83392E-5"	"02329"	"COL5A1_000640"	"g.137534069G>C"	""	""	""	"COL5A1(NM_000093.5):c.36G>C (p.A12=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949221"	"0"	"30"	"9"	"137582774"	"137582774"	"subst"	"0.000480714"	"02329"	"COL5A1_000443"	"g.137582774C>T"	""	""	""	"COL5A1(NM_000093.4):c.126C>T (p.L42=), COL5A1(NM_000093.5):c.126C>T (p.L42=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949222"	"0"	"50"	"9"	"137593108"	"137593108"	"subst"	"2.03537E-5"	"02329"	"COL5A1_000641"	"g.137593108G>A"	""	""	""	"COL5A1(NM_000093.4):c.583G>A (p.(Asp195Asn)), COL5A1(NM_000093.5):c.583G>A (p.D195N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000949223"	"0"	"30"	"9"	"137630303"	"137630303"	"subst"	"2.84544E-5"	"02329"	"COL5A1_000642"	"g.137630303T>C"	""	""	""	"COL5A1(NM_000093.5):c.1390-17T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949224"	"0"	"50"	"9"	"137646170"	"137646170"	"subst"	"3.25396E-5"	"02329"	"COL5A1_000643"	"g.137646170C>T"	""	""	""	"COL5A1(NM_000093.5):c.1825C>T (p.R609W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000949225"	"0"	"30"	"9"	"137650283"	"137650283"	"subst"	"0"	"02329"	"COL5A1_000644"	"g.137650283C>T"	""	""	""	"COL5A1(NM_000093.5):c.1935+141C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949226"	"0"	"50"	"9"	"137653801"	"137653801"	"subst"	"0"	"02329"	"COL5A1_000645"	"g.137653801C>T"	""	""	""	"COL5A1(NM_000093.5):c.1966C>T (p.P656S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000949227"	"0"	"50"	"9"	"137653805"	"137653805"	"subst"	"6.50486E-5"	"02325"	"COL5A1_000261"	"g.137653805C>T"	""	""	""	"COL5A1(NM_000093.4):c.1970C>T (p.P657L), COL5A1(NM_000093.5):c.1970C>T (p.P657L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000949228"	"0"	"10"	"9"	"137674521"	"137674521"	"subst"	"0.0013445"	"02326"	"COL5A1_000269"	"g.137674521C>T"	""	""	""	"COL5A1(NM_000093.4):c.2439C>T (p.D813=), COL5A1(NM_000093.5):c.2439C>T (p.D813=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000949229"	"0"	"50"	"9"	"137681034"	"137681034"	"subst"	"0"	"02327"	"COL5A1_000646"	"g.137681034A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000949230"	"0"	"30"	"9"	"137688136"	"137688136"	"subst"	"0"	"02329"	"COL5A1_000647"	"g.137688136C>T"	""	""	""	"COL5A1(NM_000093.5):c.2800-84C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949231"	"0"	"30"	"9"	"137688576"	"137688576"	"subst"	"0"	"02329"	"COL5A1_000648"	"g.137688576C>T"	""	""	""	"COL5A1(NM_000093.5):c.2845-118C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949232"	"0"	"30"	"9"	"137688696"	"137688696"	"subst"	"0"	"02326"	"COL5A1_000649"	"g.137688696A>T"	""	""	""	"COL5A1(NM_000093.4):c.2847A>T (p.G949=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949233"	"0"	"30"	"9"	"137697071"	"137697071"	"subst"	"0"	"02326"	"COL5A1_000650"	"g.137697071G>A"	""	""	""	"COL5A1(NM_000093.4):c.3258+11G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949234"	"0"	"30"	"9"	"137703922"	"137703922"	"subst"	"0"	"02329"	"COL5A1_000651"	"g.137703922G>A"	""	""	""	"COL5A1(NM_000093.5):c.3691-373G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949235"	"0"	"30"	"9"	"137705902"	"137705902"	"subst"	"0.000469235"	"02329"	"COL5A1_000046"	"g.137705902G>A"	""	""	""	"COL5A1(NM_000093.4):c.3906+20G>A, COL5A1(NM_000093.5):c.3906+20G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949236"	"0"	"10"	"9"	"137707472"	"137707472"	"subst"	"0.00175047"	"02329"	"COL5A1_000081"	"g.137707472C>T"	""	""	""	"COL5A1(NM_000093.4):c.4065C>T (p.P1355=), COL5A1(NM_000093.5):c.4065C>T (p.P1355=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000949237"	"0"	"30"	"9"	"137709997"	"137709997"	"subst"	"0"	"02329"	"COL5A1_000652"	"g.137709997C>T"	""	""	""	"COL5A1(NM_000093.5):c.4230+320C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949238"	"0"	"30"	"9"	"137710433"	"137710433"	"subst"	"0"	"02329"	"COL5A1_000653"	"g.137710433A>C"	""	""	""	"COL5A1(NM_000093.5):c.4231-69A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949239"	"0"	"30"	"9"	"137714849"	"137714849"	"subst"	"8.1285E-6"	"02329"	"COL5A1_000654"	"g.137714849G>A"	""	""	""	"COL5A1(NM_000093.5):c.4614G>A (p.P1538=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949240"	"0"	"30"	"9"	"137716440"	"137716440"	"subst"	"0.00251681"	"02326"	"COL5A1_000317"	"g.137716440C>T"	""	""	""	"COL5A1(NM_000093.4):c.4699-6C>T, COL5A1(NM_000093.5):c.4699-6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949241"	"0"	"50"	"9"	"137717677"	"137717677"	"subst"	"0"	"02329"	"COL5A1_000655"	"g.137717677A>T"	""	""	""	"COL5A1(NM_000093.5):c.4994A>T (p.D1665V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000949242"	"0"	"50"	"9"	"137717709"	"137717709"	"subst"	"1.21907E-5"	"02329"	"COL5A1_000656"	"g.137717709G>A"	""	""	""	"COL5A1(NM_000093.5):c.5026G>A (p.G1676R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000949243"	"0"	"30"	"9"	"137721815"	"137721815"	"subst"	"0.00377227"	"02326"	"COL5A1_000325"	"g.137721815T>C"	""	""	""	"COL5A1(NM_000093.4):c.5068-7T>C, COL5A1(NM_000093.5):c.5068-7T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949244"	"0"	"30"	"9"	"137727063"	"137727063"	"subst"	"7.44097E-5"	"02326"	"COL5A1_000657"	"g.137727063C>T"	""	""	""	"COL5A1(NM_000093.4):c.5370+13C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949245"	"0"	"50"	"9"	"137734043"	"137734043"	"subst"	"1.21835E-5"	"02329"	"COL5A1_000658"	"g.137734043C>A"	""	""	""	"COL5A1(NM_000093.5):c.5411C>A (p.T1804N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000960293"	"0"	"90"	"9"	"137642395"	"137642395"	"dup"	"0"	"03779"	"COL5A1_000548"	"g.137642395dup"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000965245"	"0"	"10"	"9"	"137534094"	"137534094"	"subst"	"0.00108632"	"02329"	"COL5A1_000440"	"g.137534094C>T"	""	""	""	"COL5A1(NM_000093.4):c.61C>T (p.P21S), COL5A1(NM_000093.5):c.61C>T (p.P21S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000965246"	"0"	"30"	"9"	"137534362"	"137534362"	"subst"	"0"	"02329"	"COL5A1_000659"	"g.137534362T>G"	""	""	""	"COL5A1(NM_000093.5):c.109+220T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965247"	"0"	"30"	"9"	"137582918"	"137582918"	"subst"	"8.1406E-6"	"02329"	"COL5A1_000660"	"g.137582918G>A"	""	""	""	"COL5A1(NM_000093.5):c.270G>A (p.L90=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965248"	"0"	"30"	"9"	"137618994"	"137618994"	"subst"	"0"	"02329"	"COL5A1_000661"	"g.137618994G>T"	""	""	""	"COL5A1(NM_000093.5):c.655-118G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965249"	"0"	"30"	"9"	"137622315"	"137622315"	"subst"	"0.00064198"	"02329"	"COL5A1_000072"	"g.137622315C>T"	""	""	""	"COL5A1(NM_000093.4):c.1158C>T (p.S386=), COL5A1(NM_000093.5):c.1158C>T (p.S386=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965250"	"0"	"30"	"9"	"137622488"	"137622488"	"subst"	"0"	"02329"	"COL5A1_000662"	"g.137622488G>A"	""	""	""	"COL5A1(NM_000093.5):c.1164+167G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965251"	"0"	"30"	"9"	"137644265"	"137644266"	"ins"	"0"	"02329"	"COL5A1_000663"	"g.137644265_137644266insA"	""	""	""	"COL5A1(NM_000093.5):c.1663-169_1663-167delGGGinsAGGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965252"	"0"	"30"	"9"	"137644277"	"137644277"	"subst"	"0"	"02329"	"COL5A1_000664"	"g.137644277G>C"	""	""	""	"COL5A1(NM_000093.5):c.1663-158G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965253"	"0"	"30"	"9"	"137644656"	"137644656"	"subst"	"0"	"02329"	"COL5A1_000665"	"g.137644656C>T"	""	""	""	"COL5A1(NM_000093.5):c.1719+165C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965254"	"0"	"50"	"9"	"137646170"	"137646170"	"subst"	"3.25396E-5"	"02325"	"COL5A1_000643"	"g.137646170C>T"	""	""	""	"COL5A1(NM_000093.5):c.1825C>T (p.R609W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000965255"	"0"	"30"	"9"	"137654126"	"137654126"	"subst"	"0"	"02329"	"COL5A1_000666"	"g.137654126G>A"	""	""	""	"COL5A1(NM_000093.5):c.1989+302G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965256"	"0"	"30"	"9"	"137667028"	"137667028"	"subst"	"0"	"02329"	"COL5A1_000667"	"g.137667028G>A"	""	""	""	"COL5A1(NM_000093.5):c.2385+270G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965257"	"0"	"70"	"9"	"137676907"	"137676907"	"subst"	"0"	"02329"	"COL5A1_000668"	"g.137676907G>C"	""	""	""	"COL5A1(NM_000093.5):c.2557G>C (p.G853R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000965258"	"0"	"90"	"9"	"137676932"	"137676932"	"dup"	"0"	"02329"	"COL5A1_000669"	"g.137676932dup"	""	""	""	"COL5A1(NM_000093.5):c.2582dupC (p.G862Wfs*59)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000965259"	"0"	"30"	"9"	"137676938"	"137676938"	"subst"	"0.000420872"	"02325"	"COL5A1_000202"	"g.137676938A>T"	""	""	""	"COL5A1(NM_000093.5):c.2588A>T (p.E863V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965260"	"0"	"30"	"9"	"137678010"	"137678010"	"subst"	"0"	"02329"	"COL5A1_000670"	"g.137678010C>T"	""	""	""	"COL5A1(NM_000093.5):c.2646+116C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965261"	"0"	"30"	"9"	"137686801"	"137686801"	"subst"	"0"	"02329"	"COL5A1_000671"	"g.137686801C>T"	""	""	""	"COL5A1(NM_000093.5):c.2701-127C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965262"	"0"	"30"	"9"	"137686853"	"137686853"	"subst"	"0"	"02329"	"COL5A1_000672"	"g.137686853A>G"	""	""	""	"COL5A1(NM_000093.5):c.2701-75A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965263"	"0"	"30"	"9"	"137694012"	"137694012"	"subst"	"0"	"02329"	"COL5A1_000673"	"g.137694012G>A"	""	""	""	"COL5A1(NM_000093.5):c.3006+159G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965264"	"0"	"30"	"9"	"137701080"	"137701080"	"subst"	"0.000402887"	"02325"	"COL5A1_000201"	"g.137701080G>A"	""	""	""	"COL5A1(NM_000093.5):c.3418G>A (p.V1140M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965265"	"0"	"90"	"9"	"137701084"	"137701084"	"subst"	"0"	"02329"	"COL5A1_000674"	"g.137701084G>A"	""	""	""	"COL5A1(NM_000093.5):c.3422G>A (p.G1141E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000965266"	"0"	"30"	"9"	"137702117"	"137702117"	"subst"	"0.000113735"	"02329"	"COL5A1_000675"	"g.137702117C>T"	""	""	""	"COL5A1(NM_000093.5):c.3491C>T (p.P1164L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965267"	"0"	"30"	"9"	"137704152"	"137704152"	"subst"	"0"	"02329"	"COL5A1_000676"	"g.137704152G>A"	""	""	""	"COL5A1(NM_000093.5):c.3691-143G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965268"	"0"	"30"	"9"	"137705567"	"137705567"	"subst"	"0"	"02329"	"COL5A1_000677"	"g.137705567G>A"	""	""	""	"COL5A1(NM_000093.5):c.3853-262G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965269"	"0"	"30"	"9"	"137708004"	"137708004"	"subst"	"0"	"02329"	"COL5A1_000678"	"g.137708004T>C"	""	""	""	"COL5A1(NM_000093.5):c.4122+170T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965270"	"0"	"30"	"9"	"137710489"	"137710489"	"subst"	"2.64294E-5"	"02329"	"COL5A1_000436"	"g.137710489C>T"	""	""	""	"COL5A1(NM_000093.4):c.4231-13C>T, COL5A1(NM_000093.5):c.4231-13C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965271"	"0"	"90"	"9"	"137713918"	"137713918"	"subst"	"0"	"02329"	"COL5A1_000638"	"g.137713918A>G"	""	""	""	"COL5A1(NM_000093.5):c.4555-25A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000965272"	"0"	"30"	"9"	"137717406"	"137717406"	"subst"	"0"	"02329"	"COL5A1_000679"	"g.137717406G>C"	""	""	""	"COL5A1(NM_000093.5):c.4955-232G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965273"	"0"	"30"	"9"	"137727118"	"137727118"	"subst"	"0"	"02329"	"COL5A1_000680"	"g.137727118C>T"	""	""	""	"COL5A1(NM_000093.5):c.5370+68C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978499"	"0"	"50"	"9"	"137593097"	"137593097"	"subst"	"0"	"02329"	"COL5A1_000681"	"g.137593097T>C"	""	""	""	"COL5A1(NM_000093.5):c.572T>C (p.L191P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000978500"	"0"	"30"	"9"	"137593123"	"137593123"	"subst"	"0.000366458"	"02329"	"COL5A1_000438"	"g.137593123G>A"	""	""	""	"COL5A1(NM_000093.4):c.598G>A (p.D200N), COL5A1(NM_000093.5):c.598G>A (p.D200N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978501"	"0"	"30"	"9"	"137593452"	"137593452"	"subst"	"0"	"02329"	"COL5A1_000682"	"g.137593452G>A"	""	""	""	"COL5A1(NM_000093.5):c.654+273G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978502"	"0"	"30"	"9"	"137619451"	"137619451"	"subst"	"0"	"02329"	"COL5A1_000683"	"g.137619451A>G"	""	""	""	"COL5A1(NM_000093.5):c.786+208A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978503"	"0"	"30"	"9"	"137624005"	"137624005"	"subst"	"0.000247716"	"02329"	"COL5A1_000684"	"g.137624005C>T"	""	""	""	"COL5A1(NM_000093.5):c.1389+32C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978504"	"0"	"30"	"9"	"137642654"	"137642654"	"subst"	"0.0347998"	"01804"	"COL5A1_000026"	"g.137642654G>A"	""	""	""	"COL5A1(NM_000093.4):c.1588G>A (p.G530S, p.(Gly530Ser)), COL5A1(NM_000093.5):c.1588G>A (p.G530S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978505"	"0"	"30"	"9"	"137644532"	"137644532"	"subst"	"2.08286E-5"	"02329"	"COL5A1_000685"	"g.137644532G>C"	""	""	""	"COL5A1(NM_000093.5):c.1719+41G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978506"	"0"	"30"	"9"	"137644546"	"137644546"	"subst"	"0"	"02329"	"COL5A1_000686"	"g.137644546C>G"	""	""	""	"COL5A1(NM_000093.5):c.1719+55C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978507"	"0"	"30"	"9"	"137658425"	"137658425"	"subst"	"0"	"02329"	"COL5A1_000687"	"g.137658425G>A"	""	""	""	"COL5A1(NM_000093.5):c.2133+81G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978508"	"0"	"30"	"9"	"137658708"	"137658708"	"subst"	"0"	"02329"	"COL5A1_000688"	"g.137658708G>A"	""	""	""	"COL5A1(NM_000093.5):c.2134-138G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978509"	"0"	"30"	"9"	"137664385"	"137664385"	"subst"	"0"	"02329"	"COL5A1_000689"	"g.137664385G>A"	""	""	""	"COL5A1(NM_000093.5):c.2287-251G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978510"	"0"	"50"	"9"	"137664670"	"137664670"	"subst"	"0"	"02329"	"COL5A1_000368"	"g.137664670A>C"	""	""	""	"COL5A1(NM_000093.4):c.2321A>C (p.K774T), COL5A1(NM_000093.5):c.2321A>C (p.K774T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000978511"	"0"	"30"	"9"	"137676938"	"137676938"	"subst"	"0.000420872"	"02329"	"COL5A1_000202"	"g.137676938A>T"	""	""	""	"COL5A1(NM_000093.5):c.2588A>T (p.E863V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978512"	"0"	"10"	"9"	"137681049"	"137681049"	"subst"	"0.000502287"	"02329"	"COL5A1_000690"	"g.137681049G>A"	""	""	""	"COL5A1(NM_000093.5):c.2695G>A (p.G899S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000978513"	"0"	"30"	"9"	"137688202"	"137688202"	"subst"	"0.00234711"	"02326"	"COL5A1_000595"	"g.137688202C>A"	""	""	""	"COL5A1(NM_000093.4):c.2800-18C>A, COL5A1(NM_000093.5):c.2800-18C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978514"	"0"	"10"	"9"	"137688701"	"137688701"	"subst"	"0.01012"	"01804"	"COL5A1_000079"	"g.137688701A>G"	""	""	""	"COL5A1(NM_000093.4):c.2852A>G (p.N951S), COL5A1(NM_000093.5):c.2852A>G (p.(Asn951Ser), p.N951S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000978515"	"0"	"30"	"9"	"137697129"	"137697129"	"subst"	"0"	"02329"	"COL5A1_000691"	"g.137697129G>A"	""	""	""	"COL5A1(NM_000093.5):c.3258+69G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978516"	"0"	"30"	"9"	"137701080"	"137701080"	"subst"	"0.000402887"	"02329"	"COL5A1_000201"	"g.137701080G>A"	""	""	""	"COL5A1(NM_000093.5):c.3418G>A (p.V1140M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978517"	"0"	"50"	"9"	"137704458"	"137704458"	"subst"	"3.95824E-5"	"02329"	"COL5A1_000297"	"g.137704458C>T"	""	""	""	"COL5A1(NM_000093.4):c.3752C>T (p.P1251L), COL5A1(NM_000093.5):c.3752C>T (p.P1251L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000978518"	"0"	"30"	"9"	"137705881"	"137705881"	"subst"	"6.08018E-5"	"01804"	"COL5A1_000387"	"g.137705881C>T"	""	""	""	"COL5A1(NM_000093.4):c.3905C>T (p.P1302L, p.(Pro1302Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978519"	"0"	"30"	"9"	"137708668"	"137708668"	"subst"	"0"	"02329"	"COL5A1_000692"	"g.137708668C>T"	""	""	""	"COL5A1(NM_000093.5):c.4123-204C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978520"	"0"	"30"	"9"	"137709402"	"137709402"	"subst"	"0"	"02329"	"COL5A1_000693"	"g.137709402G>A"	""	""	""	"COL5A1(NM_000093.5):c.4177-222G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978521"	"0"	"30"	"9"	"137711885"	"137711885"	"subst"	"0"	"02329"	"COL5A1_000694"	"g.137711885G>A"	""	""	""	"COL5A1(NM_000093.5):c.4447-77G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978522"	"0"	"10"	"9"	"137726806"	"137726806"	"subst"	"0.0014079"	"02329"	"COL5A1_000695"	"g.137726806T>C"	""	""	""	"COL5A1(NM_000093.5):c.5137-11T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000978523"	"0"	"10"	"9"	"137726831"	"137726831"	"subst"	"0.00178255"	"02326"	"COL5A1_000092"	"g.137726831C>T"	""	""	""	"COL5A1(NM_000093.4):c.5151C>T (p.D1717=), COL5A1(NM_000093.5):c.5151C>T (p.D1717=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000985373"	"0"	"30"	"9"	"137647628"	"137647628"	"subst"	"0"	"03779"	"COL5A1_000696"	"g.137647628G>A"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs564383813"	"0"	""	""	""	""	"likely benign"	""
"0000987731"	"0"	"90"	"9"	"137717714"	"137717714"	"dup"	"0"	"03779"	"COL5A1_000142"	"g.137717714dup"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000988636"	"0"	"90"	"9"	"137688218"	"137688218"	"subst"	"0"	"03779"	"COL5A1_000506"	"g.137688218A>G"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000989083"	"0"	"30"	"9"	"137734124"	"137734124"	"subst"	"8.12532E-6"	"03779"	"COL5A1_000697"	"g.137734124T>C"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs532411382"	"0"	""	""	""	""	"likely benign"	""
"0000989397"	"0"	"77"	"9"	"137645685"	"137645685"	"subst"	"0"	"04693"	"COL5A1_000698"	"g.137645685T>A"	""	"{PMID:Bryant 2024:38929591}\r\n{PMID:Schwarze 2000:10796876}"	""	""	"Predicted by in silico tools to cause in-frame skipping of exon 15 (Splice AI delta scores for exon 15: splice acceptor loss = 0.52, splice donor loss = 0.22). Earlier data (Schwarze et al 2000) demonstrated a small amount of aberrant mRNA where exon 15 was skipped in fibroblasts from another individual with cEDS and this variant."	"Germline"	"?"	""	"0"	""	""	"g.134753839T>A"	"{CV:212940}"	"likely pathogenic (dominant)"	""
"0000989410"	"0"	"90"	"9"	"137533651"	"137534143"	"del"	"0"	"04693"	"COL5A1_000699"	"g.(?_137533651)_(137534143_137582757)del"	""	"{PMID:Pujari 2024:38572164}"	""	"del exon 1"	"Variant described in paper as \'deletion of exon 1 in COL5A1\', with unknown breakpoints."	"Germline"	"?"	""	"0"	""	""	"g.(?_134641805)_(134642297_134690911)del"	""	"pathogenic (dominant)"	""
"0000997615"	"0"	"90"	"9"	"137534036"	"137534036"	"subst"	"0"	"02329"	"COL5A1_000700"	"g.137534036G>A"	""	""	""	"COL5A1(NM_000093.5):c.3G>A (p.M1?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000997616"	"0"	"10"	"9"	"137534045"	"137534045"	"subst"	"0.00486385"	"02329"	"COL5A1_000701"	"g.137534045T>C"	""	""	""	"COL5A1(NM_000093.5):c.12T>C (p.H4=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000997617"	"0"	"30"	"9"	"137534094"	"137534094"	"subst"	"0.00108632"	"02326"	"COL5A1_000440"	"g.137534094C>T"	""	""	""	"COL5A1(NM_000093.4):c.61C>T (p.P21S), COL5A1(NM_000093.5):c.61C>T (p.P21S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997618"	"0"	"50"	"9"	"137591944"	"137591944"	"subst"	"2.4894E-5"	"01804"	"COL5A1_000702"	"g.137591944G>A"	""	""	""	"COL5A1(NM_000093.4):c.467G>A (p.(Arg156Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000997619"	"0"	"30"	"9"	"137593108"	"137593108"	"subst"	"2.03537E-5"	"01804"	"COL5A1_000641"	"g.137593108G>A"	""	""	""	"COL5A1(NM_000093.4):c.583G>A (p.(Asp195Asn)), COL5A1(NM_000093.5):c.583G>A (p.D195N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997620"	"0"	"30"	"9"	"137619096"	"137619096"	"subst"	"5.28636E-5"	"02329"	"COL5A1_000703"	"g.137619096G>A"	""	""	""	"COL5A1(NM_000093.5):c.655-16G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997621"	"0"	"30"	"9"	"137619147"	"137619147"	"subst"	"0"	"01804"	"COL5A1_000704"	"g.137619147C>G"	""	""	""	"COL5A1(NM_000093.4):c.690C>G (p.(His230Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997622"	"0"	"30"	"9"	"137619218"	"137619218"	"subst"	"0.00100297"	"02329"	"COL5A1_000240"	"g.137619218C>T"	""	""	""	"COL5A1(NM_000093.4):c.761C>T (p.S254L), COL5A1(NM_000093.5):c.761C>T (p.S254L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997623"	"0"	"50"	"9"	"137620375"	"137620375"	"subst"	"0"	"02329"	"COL5A1_000705"	"g.137620375C>T"	""	""	""	"COL5A1(NM_000093.5):c.787-141C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000997624"	"0"	"30"	"9"	"137630298"	"137630298"	"subst"	"1.62658E-5"	"02329"	"COL5A1_000706"	"g.137630298C>T"	""	""	""	"COL5A1(NM_000093.5):c.1390-22C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997625"	"0"	"30"	"9"	"137650013"	"137650013"	"subst"	"0"	"02329"	"COL5A1_000707"	"g.137650013C>T"	""	""	""	"COL5A1(NM_000093.5):c.1882-76C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997626"	"0"	"30"	"9"	"137657812"	"137657812"	"subst"	"0"	"02329"	"COL5A1_000708"	"g.137657812C>T"	""	""	""	"COL5A1(NM_000093.5):c.2088+232C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997627"	"0"	"30"	"9"	"137658112"	"137658112"	"subst"	"0"	"02329"	"COL5A1_000709"	"g.137658112A>G"	""	""	""	"COL5A1(NM_000093.5):c.2089-188A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997628"	"0"	"50"	"9"	"137660307"	"137660307"	"subst"	"1.21839E-5"	"01804"	"COL5A1_000628"	"g.137660307C>A"	""	""	""	"COL5A1(NM_000093.4):c.2284C>A (p.(Pro762Thr), p.P762T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000997629"	"0"	"30"	"9"	"137676609"	"137676609"	"subst"	"0"	"02329"	"COL5A1_000710"	"g.137676609C>T"	""	""	""	"COL5A1(NM_000093.5):c.2485-226C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997630"	"0"	"30"	"9"	"137677838"	"137677838"	"subst"	"1.22587E-5"	"02329"	"COL5A1_000711"	"g.137677838C>T"	""	""	""	"COL5A1(NM_000093.5):c.2593-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997631"	"0"	"30"	"9"	"137687203"	"137687203"	"subst"	"0.000261947"	"02329"	"COL5A1_000712"	"g.137687203A>G"	""	""	""	"COL5A1(NM_000093.5):c.2799+42A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997632"	"0"	"30"	"9"	"137688467"	"137688467"	"del"	"0"	"02329"	"COL5A1_000713"	"g.137688467del"	""	""	""	"COL5A1(NM_000093.5):c.2844+203delG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997633"	"0"	"30"	"9"	"137694515"	"137694515"	"subst"	"0"	"02329"	"COL5A1_000714"	"g.137694515C>T"	""	""	""	"COL5A1(NM_000093.5):c.3007-219C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997634"	"0"	"30"	"9"	"137696543"	"137696543"	"subst"	"0"	"02329"	"COL5A1_000715"	"g.137696543G>A"	""	""	""	"COL5A1(NM_000093.5):c.3115-278G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997635"	"0"	"50"	"9"	"137703347"	"137703347"	"subst"	"9.61619E-5"	"02326"	"COL5A1_000291"	"g.137703347G>A"	""	""	""	"COL5A1(NM_000093.4):c.3592G>A (p.G1198S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000997636"	"0"	"30"	"9"	"137704286"	"137704286"	"subst"	"9.74865E-5"	"02329"	"COL5A1_000293"	"g.137704286T>C"	""	""	""	"COL5A1(NM_000093.4):c.3691-9T>C, COL5A1(NM_000093.5):c.3691-9T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997637"	"0"	"30"	"9"	"137705901"	"137705901"	"subst"	"9.51281E-5"	"02329"	"COL5A1_000618"	"g.137705901C>T"	""	""	""	"COL5A1(NM_000093.4):c.3906+19C>T, COL5A1(NM_000093.5):c.3906+19C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997638"	"0"	"30"	"9"	"137707473"	"137707473"	"subst"	"0.000250224"	"02326"	"COL5A1_000303"	"g.137707473G>A"	""	""	""	"COL5A1(NM_000093.4):c.4066G>A (p.A1356T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997639"	"0"	"50"	"9"	"137707474"	"137707474"	"subst"	"4.51215E-5"	"01804"	"COL5A1_000304"	"g.137707474C>T"	""	""	""	"COL5A1(NM_000093.4):c.4067C>T (p.A1356V, p.(Ala1356Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000997640"	"0"	"50"	"9"	"137707833"	"137707833"	"subst"	"0.000219309"	"01804"	"COL5A1_000431"	"g.137707833C>T"	""	""	""	"COL5A1(NM_000093.4):c.4121C>T (p.T1374M, p.(Thr1374Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000997641"	"0"	"30"	"9"	"137711082"	"137711082"	"subst"	"0"	"02329"	"COL5A1_000716"	"g.137711082C>A"	""	""	""	"COL5A1(NM_000093.5):c.4446+183C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997642"	"0"	"50"	"9"	"137712074"	"137712074"	"subst"	"8.14777E-6"	"01804"	"COL5A1_000717"	"g.137712074G>A"	""	""	""	"COL5A1(NM_000093.4):c.4554+5G>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000997643"	"0"	"10"	"9"	"137712327"	"137712327"	"subst"	"0"	"02329"	"COL5A1_000718"	"g.137712327C>A"	""	""	""	"COL5A1(NM_000093.5):c.4554+258C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000997644"	"0"	"30"	"9"	"137713867"	"137713867"	"subst"	"0"	"02329"	"COL5A1_000719"	"g.137713867G>A"	""	""	""	"COL5A1(NM_000093.5):c.4555-76G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997645"	"0"	"30"	"9"	"137714567"	"137714568"	"ins"	"0"	"02329"	"COL5A1_000720"	"g.137714567_137714568insG"	""	""	""	"COL5A1(NM_000093.5):c.4609-277_4609-276insG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997646"	"0"	"30"	"9"	"137726617"	"137726617"	"subst"	"0"	"02329"	"COL5A1_000721"	"g.137726617G>A"	""	""	""	"COL5A1(NM_000093.5):c.5137-200G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000997647"	"0"	"50"	"9"	"137727030"	"137727030"	"subst"	"0"	"01804"	"COL5A1_000722"	"g.137727030G>C"	""	""	""	"COL5A1(NM_000093.4):c.5350G>C (p.(Ala1784Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001007450"	"0"	"70"	"9"	"137657534"	"137657534"	"subst"	"2.84594E-5"	"00006"	"COL5A1_000724"	"g.137657534G>A"	""	"{PMID:Mansoorshahi 2024:39226896}"	""	""	""	"Germline"	""	"rs371580094"	"0"	""	""	"g.134765688G>A"	""	"VUS"	""
"0001007451"	"0"	"70"	"9"	"137660292"	"137660292"	"subst"	"0"	"00006"	"COL5A1_000725"	"g.137660292G>A"	""	"{PMID:Mansoorshahi 2024:39226896}"	""	""	""	"Germline"	""	"rs1464394247"	"0"	""	""	"g.134768446G>A"	""	"VUS"	""
"0001007452"	"0"	"70"	"9"	"137642640"	"137642640"	"subst"	"6.91647E-5"	"00006"	"COL5A1_000723"	"g.137642640G>A"	""	"{PMID:Mansoorshahi 2024:39226896}"	""	""	""	"Germline"	""	"rs375762619"	"0"	""	""	"g.134750794G>A"	""	"VUS"	""
"0001007453"	"0"	"70"	"9"	"137726838"	"137726838"	"subst"	"0"	"00006"	"COL5A1_000727"	"g.137726838G>A"	""	"{PMID:Mansoorshahi 2024:39226896}"	""	""	""	"Germline"	""	"rs1215842932"	"0"	""	""	"g.134834992G>A"	""	"VUS"	""
"0001007548"	"0"	"70"	"9"	"137694741"	"137694741"	"subst"	"6.21705E-5"	"00006"	"COL5A1_000726"	"g.137694741C>T"	""	"{PMID:Mansoorshahi 2024:39226896}"	""	""	""	"Germline"	""	"rs201220311"	"0"	""	""	"g.134802895C>T"	""	"VUS"	""
"0001007554"	"0"	"70"	"9"	"137694750"	"137694750"	"subst"	"7.86365E-5"	"00006"	"COL5A1_000222"	"g.137694750C>T"	""	"{PMID:Mansoorshahi 2024:39226896}"	""	""	""	"Germline"	""	"rs199735010"	"0"	""	""	"g.134802904C>T"	""	"VUS"	""
"0001007555"	"0"	"70"	"9"	"137642703"	"137642703"	"subst"	"0.000131314"	"00006"	"COL5A1_000469"	"g.137642703C>T"	""	"{PMID:Mansoorshahi 2024:39226896}"	""	""	""	"Germline"	""	"rs557361751"	"0"	""	""	"g.134750857C>T"	""	"VUS"	""
"0001012515"	"0"	"30"	"9"	"137646113"	"137646113"	"del"	"0"	"03779"	"COL5A1_000728"	"g.137646113del"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"likely benign"	""
"0001014512"	"0"	"50"	"9"	"137534052"	"137534052"	"subst"	"0"	"02329"	"COL5A1_000729"	"g.137534052T>C"	""	""	""	"COL5A1(NM_000093.5):c.19T>C (p.W7R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001014513"	"0"	"50"	"9"	"137593123"	"137593123"	"subst"	"0.000366458"	"02325"	"COL5A1_000438"	"g.137593123G>A"	""	""	""	"COL5A1(NM_000093.4):c.598G>A (p.D200N), COL5A1(NM_000093.5):c.598G>A (p.D200N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001014514"	"0"	"30"	"9"	"137653754"	"137653754"	"subst"	"0"	"02329"	"COL5A1_000730"	"g.137653754A>T"	""	""	""	"COL5A1(NM_000093.5):c.1936-17A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001014515"	"0"	"50"	"9"	"137664670"	"137664670"	"subst"	"0"	"02325"	"COL5A1_000368"	"g.137664670A>C"	""	""	""	"COL5A1(NM_000093.4):c.2321A>C (p.K774T), COL5A1(NM_000093.5):c.2321A>C (p.K774T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001014516"	"0"	"30"	"9"	"137701064"	"137701064"	"subst"	"0.000109909"	"02329"	"COL5A1_000383"	"g.137701064C>T"	""	""	""	"COL5A1(NM_000093.4):c.3402C>T (p.D1134=), COL5A1(NM_000093.5):c.3402C>T (p.D1134=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001014517"	"0"	"50"	"9"	"137701090"	"137701090"	"subst"	"3.03469E-5"	"02329"	"COL5A1_000731"	"g.137701090C>T"	""	""	""	"COL5A1(NM_000093.5):c.3428C>T (p.P1143L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001014518"	"0"	"90"	"9"	"137710559"	"137710559"	"del"	"0"	"02329"	"COL5A1_000606"	"g.137710559del"	""	""	""	"COL5A1(NM_000093.5):c.4288delG (p.A1430Pfs*58)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001014519"	"0"	"50"	"9"	"137734067"	"137734067"	"subst"	"0"	"02329"	"COL5A1_000732"	"g.137734067T>A"	""	""	""	"COL5A1(NM_000093.5):c.5435T>A (p.I1812N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001022093"	"0"	"50"	"9"	"137717707"	"137717707"	"subst"	"4.06177E-6"	"04796"	"COL5A1_000322"	"g.137717707C>A"	""	""	""	""	"no effect on RNA"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134825861C>A"	""	"VUS"	""
"0001022134"	"0"	"50"	"9"	"137707474"	"137707474"	"subst"	"4.51215E-5"	"04796"	"COL5A1_000304"	"g.137707474C>T"	""	""	""	""	"no effect on RNA"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134815628C>T"	""	"VUS"	""
"0001025611"	"0"	"90"	"9"	"137593180"	"137593180"	"subst"	"0"	"02329"	"COL5A1_000733"	"g.137593180G>C"	""	""	""	"COL5A1(NM_000093.5):c.654+1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001025612"	"0"	"50"	"9"	"137619131"	"137619131"	"subst"	"0"	"02329"	"COL5A1_000734"	"g.137619131T>C"	""	""	""	"COL5A1(NM_000093.5):c.674T>C (p.L225P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001025613"	"0"	"30"	"9"	"137619254"	"137619254"	"subst"	"1.21835E-5"	"02329"	"COL5A1_000735"	"g.137619254T>G"	""	""	""	"COL5A1(NM_000093.5):c.786+11T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001025614"	"0"	"30"	"9"	"137620501"	"137620501"	"subst"	"0.021361"	"02329"	"COL5A1_000351"	"g.137620501G>A"	""	""	""	"COL5A1(NM_000093.4):c.787-15G>A, COL5A1(NM_000093.5):c.787-15G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001025615"	"0"	"30"	"9"	"137620507"	"137620507"	"subst"	"2.43837E-5"	"02329"	"COL5A1_000736"	"g.137620507C>T"	""	""	""	"COL5A1(NM_000093.5):c.787-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001025616"	"0"	"10"	"9"	"137622219"	"137622219"	"subst"	"0.00146623"	"02329"	"COL5A1_000071"	"g.137622219C>T"	""	""	""	"COL5A1(NM_000093.5):c.1062C>T (p.D354=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001025617"	"0"	"90"	"9"	"137623411"	"137623412"	"del"	"0"	"02329"	"COL5A1_000737"	"g.137623411_137623412del"	""	""	""	"COL5A1(NM_000093.5):c.1234_1235delCT (p.L412*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001025618"	"0"	"50"	"9"	"137623912"	"137623912"	"subst"	"0"	"02326"	"COL5A1_000738"	"g.137623912C>T"	""	""	""	"COL5A1(NM_000093.4):c.1333-5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001025619"	"0"	"90"	"9"	"137623944"	"137623944"	"subst"	"0"	"02329"	"COL5A1_000105"	"g.137623944C>T"	""	""	""	"COL5A1(NM_000093.5):c.1360C>T (p.Q454*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001025620"	"0"	"10"	"9"	"137642459"	"137642459"	"subst"	"0.00158533"	"02329"	"COL5A1_000075"	"g.137642459G>A"	""	""	""	"COL5A1(NM_000093.5):c.1566G>A (p.L522=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001025621"	"0"	"30"	"9"	"137642654"	"137642654"	"subst"	"0.0347998"	"01943"	"COL5A1_000026"	"g.137642654G>A"	""	""	""	"COL5A1(NM_000093.4):c.1588G>A (p.G530S, p.(Gly530Ser)), COL5A1(NM_000093.5):c.1588G>A (p.G530S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001025622"	"0"	"90"	"9"	"137645697"	"137645697"	"del"	"0"	"02329"	"COL5A1_000739"	"g.137645697del"	""	""	""	"COL5A1(NM_000093.5):c.1720-1delG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001025623"	"0"	"30"	"9"	"137676843"	"137676843"	"subst"	"0.000179301"	"02329"	"COL5A1_000740"	"g.137676843C>T"	""	""	""	"COL5A1(NM_000093.5):c.2493C>T (p.I831=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001025624"	"0"	"30"	"9"	"137694796"	"137694796"	"subst"	"0.000181723"	"02329"	"COL5A1_000281"	"g.137694796C>T"	""	""	""	"COL5A1(NM_000093.4):c.3069C>T (p.P1023=), COL5A1(NM_000093.5):c.3069C>T (p.P1023=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001025625"	"0"	"90"	"9"	"137694798"	"137694798"	"dup"	"0"	"02329"	"COL5A1_000741"	"g.137694798dup"	""	""	""	"COL5A1(NM_000093.5):c.3071dupG (p.E1025*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001025626"	"0"	"30"	"9"	"137701143"	"137701143"	"subst"	"0.000580884"	"02329"	"COL5A1_000409"	"g.137701143C>T"	""	""	""	"COL5A1(NM_000093.4):c.3474+7C>T, COL5A1(NM_000093.5):c.3474+7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001025627"	"0"	"30"	"9"	"137709682"	"137709682"	"subst"	"0.00220065"	"02329"	"COL5A1_000309"	"g.137709682C>T"	""	""	""	"COL5A1(NM_000093.4):c.4230+5C>T, COL5A1(NM_000093.5):c.4230+5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001025628"	"0"	"30"	"9"	"137710490"	"137710490"	"subst"	"0.00284588"	"02329"	"COL5A1_000742"	"g.137710490G>A"	""	""	""	"COL5A1(NM_000093.5):c.4231-12G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001025629"	"0"	"30"	"9"	"137710725"	"137710725"	"subst"	"4.06448E-5"	"02329"	"COL5A1_000743"	"g.137710725C>T"	""	""	""	"COL5A1(NM_000093.5):c.4370C>T (p.P1457L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001025630"	"0"	"30"	"9"	"137710829"	"137710829"	"subst"	"0.00273899"	"02329"	"COL5A1_000744"	"g.137710829C>T"	""	""	""	"COL5A1(NM_000093.5):c.4393-17C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001025631"	"0"	"10"	"9"	"137710837"	"137710837"	"subst"	"0.0265575"	"01804"	"COL5A1_000311"	"g.137710837C>T"	""	""	""	"COL5A1(NM_000093.4):c.4393-9C>T, COL5A1(NM_000093.5):c.4393-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001025632"	"0"	"30"	"9"	"137710837"	"137710837"	"subst"	"0.0265575"	"02329"	"COL5A1_000311"	"g.137710837C>T"	""	""	""	"COL5A1(NM_000093.4):c.4393-9C>T, COL5A1(NM_000093.5):c.4393-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001025633"	"0"	"30"	"9"	"137714890"	"137714890"	"subst"	"1.62554E-5"	"02329"	"COL5A1_000745"	"g.137714890T>C"	""	""	""	"COL5A1(NM_000093.5):c.4644+11T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001025634"	"0"	"90"	"9"	"137716467"	"137716467"	"subst"	"0"	"02329"	"COL5A1_000140"	"g.137716467C>T"	""	""	""	"COL5A1(NM_000093.5):c.4720C>T (p.Q1574*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001025635"	"0"	"30"	"9"	"137721907"	"137721907"	"subst"	"8.1475E-6"	"02329"	"COL5A1_000746"	"g.137721907C>T"	""	""	""	"COL5A1(NM_000093.5):c.5136+17C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001025636"	"0"	"30"	"9"	"137726805"	"137726805"	"subst"	"0.00570299"	"02329"	"COL5A1_000326"	"g.137726805C>T"	""	""	""	"COL5A1(NM_000093.4):c.5137-12C>T, COL5A1(NM_000093.5):c.5137-12C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001025637"	"0"	"30"	"9"	"137727061"	"137727061"	"subst"	"0.000152903"	"02329"	"COL5A1_000399"	"g.137727061C>T"	""	""	""	"COL5A1(NM_000093.4):c.5370+11C>T, COL5A1(NM_000093.5):c.5370+11C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037283"	"0"	"30"	"9"	"137582931"	"137582931"	"subst"	"0.000379431"	"02329"	"COL5A1_000747"	"g.137582931T>G"	""	""	""	"COL5A1(NM_000093.5):c.277+6T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037284"	"0"	"30"	"9"	"137630600"	"137630600"	"subst"	"0.000284262"	"02329"	"COL5A1_000463"	"g.137630600C>T"	""	""	""	"COL5A1(NM_000093.4):c.1440C>T (p.P480=), COL5A1(NM_000093.5):c.1440C>T (p.P480=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037285"	"0"	"50"	"9"	"137650095"	"137650095"	"subst"	"8.94236E-5"	"02325"	"COL5A1_000473"	"g.137650095C>T"	""	""	""	"COL5A1(NM_000093.4):c.1888C>T (p.R630W), COL5A1(NM_000093.5):c.1888C>T (p.R630W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037286"	"0"	"30"	"9"	"137660309"	"137660309"	"subst"	"2.84329E-5"	"01804"	"COL5A1_000748"	"g.137660309G>A"	""	""	""	"COL5A1(NM_000093.5):c.2286G>A (p.(Pro762=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037287"	"0"	"10"	"9"	"137688741"	"137688741"	"subst"	"0.0409717"	"01804"	"COL5A1_000056"	"g.137688741C>T"	""	""	""	"COL5A1(NM_000093.5):c.2892C>T (p.(Gly964=), p.G964=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001037288"	"0"	"50"	"9"	"137704329"	"137704329"	"subst"	"8.12341E-6"	"01804"	"COL5A1_000294"	"g.137704329C>T"	""	""	""	"COL5A1(NM_000093.4):c.3725C>T (p.T1242I), COL5A1(NM_000093.5):c.3725C>T (p.(Thr1242Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037289"	"0"	"30"	"9"	"137710688"	"137710688"	"subst"	"0"	"01804"	"COL5A1_000749"	"g.137710688T>A"	""	""	""	"COL5A1(NM_000093.5):c.4339-6T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037290"	"0"	"30"	"9"	"137717708"	"137717708"	"subst"	"8.12592E-6"	"02329"	"COL5A1_000750"	"g.137717708C>G"	""	""	""	"COL5A1(NM_000093.5):c.5025C>G (p.A1675=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037291"	"0"	"10"	"9"	"137726950"	"137726950"	"subst"	"0.0118145"	"02327"	"COL5A1_000095"	"g.137726950C>T"	""	""	""	"COL5A1(NM_000093.4):c.5270C>T (p.T1757M), COL5A1(NM_000093.5):c.5270C>T (p.T1757M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001046186"	"0"	"50"	"9"	"137534061"	"137534061"	"subst"	"0"	"02327"	"COL5A1_000526"	"g.137534061C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001046187"	"0"	"50"	"9"	"137691710"	"137691710"	"subst"	"0"	"02329"	"COL5A1_000751"	"g.137691710T>A"	""	""	""	"COL5A1(NM_000093.5):c.2952+1403T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001046889"	"0"	"50"	"9"	"137704496"	"137704496"	"subst"	"0"	"03779"	"COL5A1_000752"	"g.137704496G>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0001046968"	"0"	"50"	"9"	"137676874"	"137676874"	"subst"	"0"	"03779"	"COL5A1_000753"	"g.137676874C>A"	""	""	""	""	""	"Unknown"	""	"rs1588545921"	"0"	""	""	""	""	"VUS"	""
"0001047065"	"0"	"90"	"9"	"137694796"	"137694796"	"dup"	"0"	"03779"	"COL5A1_000129"	"g.137694796dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001047173"	"0"	"70"	"9"	"137697007"	"137697007"	"subst"	"0"	"03820"	"COL5A1_000754"	"g.137697007G>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.134805161G>T"	""	"likely pathogenic"	"ACMG"
"0001048128"	"0"	"70"	"9"	"137591790"	"137591815"	"del"	"0"	"03779"	"COL5A1_000755"	"g.137591790_137591815del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0001053411"	"0"	"50"	"9"	"137703213"	"137703213"	"subst"	"0"	"01804"	"COL5A1_000756"	"g.137703213G>A"	""	""	""	"COL5A1(NM_000093.5):c.3557G>A (p.(Gly1186Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes COL5A1
## Count = 1532
"{{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}}"
"0000096566"	"00024134"	"50"	"598"	"0"	"598"	"0"	"c.598G>A"	"r.(?)"	"p.(Asp200Asn)"	"4"	""	""
"0000169347"	"00024134"	"00"	"145"	"0"	"145"	"0"	"c.145C>T"	"r.(?)"	"p.(His49Tyr)"	""	""	""
"0000169347"	"00025528"	"70"	"145"	"0"	"145"	"0"	"c.145C>T"	"r.(?)"	"p.(His49Tyr)"	""	""	""
"0000222894"	"00024134"	"99"	"2701"	"-25"	"2701"	"-25"	"c.2701-25T>G"	"r.2701_2745del"	"p.Thr902_Gly916del"	"32i"	"substitution"	"splicing affected, exon skipped"
"0000222895"	"00024134"	"99"	"2701"	"-25"	"2701"	"-25"	"c.2701-25T>G"	"r.2701_2745del"	"p.Thr902_Gly916del"	"32i"	"substitution"	"splicing affected, exon skipped"
"0000250021"	"00024134"	"10"	"2852"	"0"	"2852"	"0"	"c.2852A>G"	"r.(?)"	"p.(Asn951Ser)"	""	""	""
"0000250021"	"00025528"	"10"	"2852"	"0"	"2852"	"0"	"c.2852A>G"	"r.(?)"	"p.(Asn951Ser)"	""	""	""
"0000250222"	"00024134"	"10"	"1569"	"16"	"1569"	"16"	"c.1569+16A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000250222"	"00025528"	"10"	"1569"	"16"	"1569"	"16"	"c.1569+16A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000250223"	"00024134"	"10"	"2745"	"15"	"2745"	"15"	"c.2745+15A>T"	"r.(=)"	"p.(=)"	""	""	""
"0000250223"	"00025528"	"10"	"2745"	"15"	"2745"	"15"	"c.2745+15A>T"	"r.(=)"	"p.(=)"	""	""	""
"0000250528"	"00024134"	"50"	"4155"	"0"	"4155"	"0"	"c.4155A>G"	"r.(?)"	"p.(Pro1385=)"	""	""	""
"0000250528"	"00025528"	"50"	"4155"	"0"	"4155"	"0"	"c.4155A>G"	"r.(?)"	"p.(Pro1385=)"	""	""	""
"0000250693"	"00024134"	"10"	"4683"	"0"	"4683"	"0"	"c.4683A>C"	"r.(?)"	"p.(Gly1561=)"	""	""	""
"0000250693"	"00025528"	"10"	"4683"	"0"	"4683"	"0"	"c.4683A>C"	"r.(?)"	"p.(Gly1561=)"	""	""	""
"0000251688"	"00024134"	"30"	"2852"	"0"	"2852"	"0"	"c.2852A>G"	"r.(?)"	"p.(Asn951Ser)"	""	""	""
"0000251688"	"00025528"	"30"	"2852"	"0"	"2852"	"0"	"c.2852A>G"	"r.(?)"	"p.(Asn951Ser)"	""	""	""
"0000251941"	"00024134"	"30"	"773"	"0"	"773"	"0"	"c.773A>G"	"r.(?)"	"p.(Asn258Ser)"	""	""	""
"0000251941"	"00025528"	"30"	"773"	"0"	"773"	"0"	"c.773A>G"	"r.(?)"	"p.(Asn258Ser)"	""	""	""
"0000253045"	"00024134"	"10"	"4683"	"0"	"4683"	"0"	"c.4683A>C"	"r.(?)"	"p.(Gly1561=)"	""	""	""
"0000253045"	"00025528"	"10"	"4683"	"0"	"4683"	"0"	"c.4683A>C"	"r.(?)"	"p.(Gly1561=)"	""	""	""
"0000254885"	"00024134"	"30"	"2610"	"0"	"2610"	"0"	"c.2610A>G"	"r.(?)"	"p.(Pro870=)"	""	""	""
"0000254885"	"00025528"	"30"	"2610"	"0"	"2610"	"0"	"c.2610A>G"	"r.(?)"	"p.(Pro870=)"	""	""	""
"0000266986"	"00024134"	"10"	"1432"	"-5"	"1432"	"-5"	"c.1432-5T>C"	"r.spl?"	"p.?"	""	""	""
"0000266986"	"00025528"	"10"	"1432"	"-5"	"1432"	"-5"	"c.1432-5T>C"	"r.spl?"	"p.?"	""	""	""
"0000266987"	"00024134"	"10"	"2430"	"20"	"2430"	"20"	"c.2430+20C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000266987"	"00025528"	"10"	"2430"	"20"	"2430"	"20"	"c.2430+20C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000266988"	"00024134"	"10"	"4122"	"0"	"4122"	"0"	"c.4122G>A"	"r.(?)"	"p.(Thr1374=)"	""	""	""
"0000266988"	"00025528"	"10"	"4122"	"0"	"4122"	"0"	"c.4122G>A"	"r.(?)"	"p.(Thr1374=)"	""	""	""
"0000266989"	"00024134"	"10"	"4176"	"9"	"4176"	"9"	"c.4176+9T>G"	"r.(=)"	"p.(=)"	""	""	""
"0000266989"	"00025528"	"10"	"4176"	"9"	"4176"	"9"	"c.4176+9T>G"	"r.(=)"	"p.(=)"	""	""	""
"0000266991"	"00024134"	"10"	"738"	"0"	"738"	"0"	"c.738C>T"	"r.(?)"	"p.(Thr246=)"	""	""	""
"0000266991"	"00025528"	"10"	"738"	"0"	"738"	"0"	"c.738C>T"	"r.(?)"	"p.(Thr246=)"	""	""	""
"0000268375"	"00024134"	"10"	"1092"	"0"	"1092"	"0"	"c.1092C>T"	"r.(?)"	"p.(Pro364=)"	""	""	""
"0000268375"	"00025528"	"10"	"1092"	"0"	"1092"	"0"	"c.1092C>T"	"r.(?)"	"p.(Pro364=)"	""	""	""
"0000268376"	"00024134"	"30"	"1224"	"0"	"1224"	"0"	"c.1224G>C"	"r.(?)"	"p.(Thr408=)"	""	""	""
"0000268376"	"00025528"	"30"	"1224"	"0"	"1224"	"0"	"c.1224G>C"	"r.(?)"	"p.(Thr408=)"	""	""	""
"0000268377"	"00024134"	"10"	"1383"	"0"	"1383"	"0"	"c.1383C>T"	"r.(?)"	"p.(Ile461=)"	""	""	""
"0000268377"	"00025528"	"10"	"1383"	"0"	"1383"	"0"	"c.1383C>T"	"r.(?)"	"p.(Ile461=)"	""	""	""
"0000268378"	"00024134"	"30"	"1390"	"-12"	"1390"	"-11"	"c.1390-12_1390-11del"	"r.(=)"	"p.(=)"	""	""	""
"0000268378"	"00025528"	"30"	"1390"	"-12"	"1390"	"-11"	"c.1390-12_1390-11del"	"r.(=)"	"p.(=)"	""	""	""
"0000268379"	"00024134"	"10"	"1431"	"0"	"1431"	"0"	"c.1431G>A"	"r.(?)"	"p.(Ala477=)"	""	""	""
"0000268379"	"00025528"	"10"	"1431"	"0"	"1431"	"0"	"c.1431G>A"	"r.(?)"	"p.(Ala477=)"	""	""	""
"0000268380"	"00024134"	"10"	"1432"	"-5"	"1432"	"-5"	"c.1432-5T>C"	"r.spl?"	"p.?"	""	""	""
"0000268380"	"00025528"	"10"	"1432"	"-5"	"1432"	"-5"	"c.1432-5T>C"	"r.spl?"	"p.?"	""	""	""
"0000268381"	"00024134"	"90"	"1503"	"0"	"1503"	"0"	"c.1503del"	"r.(?)"	"p.(Gly502AspfsTer56)"	""	""	""
"0000268381"	"00025528"	"90"	"1503"	"0"	"1503"	"0"	"c.1503del"	"r.(?)"	"p.(Gly502AspfsTer56)"	""	""	""
"0000268382"	"00024134"	"10"	"1569"	"15"	"1569"	"15"	"c.1569+15C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000268382"	"00025528"	"10"	"1569"	"15"	"1569"	"15"	"c.1569+15C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000268383"	"00024134"	"30"	"1569"	"19"	"1569"	"19"	"c.1569+19C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000268383"	"00025528"	"30"	"1569"	"19"	"1569"	"19"	"c.1569+19C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000268384"	"00024134"	"90"	"1715"	"0"	"1715"	"0"	"c.1715del"	"r.(?)"	"p.(Pro572LeufsTer10)"	""	""	""
"0000268384"	"00025528"	"90"	"1715"	"0"	"1715"	"0"	"c.1715del"	"r.(?)"	"p.(Pro572LeufsTer10)"	""	""	""
"0000268385"	"00024134"	"30"	"1936"	"-16"	"1936"	"-16"	"c.1936-16C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000268385"	"00025528"	"30"	"1936"	"-16"	"1936"	"-16"	"c.1936-16C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000268386"	"00024134"	"30"	"193"	"0"	"193"	"0"	"c.193C>T"	"r.(?)"	"p.(Arg65Trp)"	""	""	""
"0000268386"	"00025528"	"30"	"193"	"0"	"193"	"0"	"c.193C>T"	"r.(?)"	"p.(Arg65Trp)"	""	""	""
"0000268387"	"00024134"	"30"	"1970"	"0"	"1970"	"0"	"c.1970C>T"	"r.(?)"	"p.(Pro657Leu)"	""	""	""
"0000268387"	"00025528"	"30"	"1970"	"0"	"1970"	"0"	"c.1970C>T"	"r.(?)"	"p.(Pro657Leu)"	""	""	""
"0000268388"	"00024134"	"90"	"2034"	"1"	"2034"	"1"	"c.2034+1G>A"	"r.spl?"	"p.?"	""	""	""
"0000268388"	"00025528"	"90"	"2034"	"1"	"2034"	"1"	"c.2034+1G>A"	"r.spl?"	"p.?"	""	""	""
"0000268389"	"00024134"	"10"	"2058"	"0"	"2058"	"0"	"c.2058G>A"	"r.(?)"	"p.(Pro686=)"	""	""	""
"0000268389"	"00025528"	"10"	"2058"	"0"	"2058"	"0"	"c.2058G>A"	"r.(?)"	"p.(Pro686=)"	""	""	""
"0000268390"	"00024134"	"10"	"2430"	"20"	"2430"	"20"	"c.2430+20C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000268390"	"00025528"	"10"	"2430"	"20"	"2430"	"20"	"c.2430+20C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000268391"	"00024134"	"10"	"2439"	"0"	"2439"	"0"	"c.2439C>T"	"r.(?)"	"p.(Asp813=)"	""	""	""
"0000268391"	"00025528"	"10"	"2439"	"0"	"2439"	"0"	"c.2439C>T"	"r.(?)"	"p.(Asp813=)"	""	""	""
"0000268392"	"00024134"	"10"	"2724"	"0"	"2724"	"0"	"c.2724G>A"	"r.(?)"	"p.(Pro908=)"	""	""	""
"0000268392"	"00025528"	"10"	"2724"	"0"	"2724"	"0"	"c.2724G>A"	"r.(?)"	"p.(Pro908=)"	""	""	""
"0000268393"	"00024134"	"10"	"2799"	"4"	"2799"	"4"	"c.2799+4T>C"	"r.spl?"	"p.?"	""	""	""
"0000268393"	"00025528"	"10"	"2799"	"4"	"2799"	"4"	"c.2799+4T>C"	"r.spl?"	"p.?"	""	""	""
"0000268394"	"00024134"	"10"	"2892"	"0"	"2892"	"0"	"c.2892C>T"	"r.(?)"	"p.(Gly964=)"	""	""	""
"0000268394"	"00025528"	"10"	"2892"	"0"	"2892"	"0"	"c.2892C>T"	"r.(?)"	"p.(Gly964=)"	""	""	""
"0000268397"	"00024134"	"90"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Gln1026Ter)"	""	""	""
"0000268397"	"00025528"	"90"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Gln1026Ter)"	""	""	""
"0000268398"	"00024134"	"30"	"3259"	"-8"	"3259"	"-8"	"c.3259-8C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000268398"	"00025528"	"30"	"3259"	"-8"	"3259"	"-8"	"c.3259-8C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000268399"	"00024134"	"90"	"3351"	"0"	"3361"	"0"	"c.3351_3361del"	"r.(?)"	"p.(Glu1118SerfsTer37)"	""	""	""
"0000268399"	"00025528"	"90"	"3351"	"0"	"3361"	"0"	"c.3351_3361del"	"r.(?)"	"p.(Glu1118SerfsTer37)"	""	""	""
"0000268400"	"00024134"	"90"	"3616"	"0"	"3616"	"0"	"c.3616C>T"	"r.(?)"	"p.(Gln1206Ter)"	""	""	""
"0000268400"	"00025528"	"90"	"3616"	"0"	"3616"	"0"	"c.3616C>T"	"r.(?)"	"p.(Gln1206Ter)"	""	""	""
"0000268401"	"00024134"	"10"	"3745"	"-18"	"3745"	"-18"	"c.3745-18G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000268401"	"00025528"	"10"	"3745"	"-18"	"3745"	"-18"	"c.3745-18G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000268402"	"00024134"	"90"	"3874"	"0"	"3874"	"0"	"c.3874G>A"	"r.(?)"	"p.(Glu1292Lys)"	""	""	""
"0000268402"	"00025528"	"90"	"3874"	"0"	"3874"	"0"	"c.3874G>A"	"r.(?)"	"p.(Glu1292Lys)"	""	""	""
"0000268403"	"00024134"	"30"	"3987"	"0"	"3987"	"0"	"c.3987C>T"	"r.(?)"	"p.(Pro1329=)"	""	""	""
"0000268403"	"00025528"	"30"	"3987"	"0"	"3987"	"0"	"c.3987C>T"	"r.(?)"	"p.(Pro1329=)"	""	""	""
"0000268404"	"00024134"	"90"	"4022"	"0"	"4023"	"0"	"c.4022_4023del"	"r.(?)"	"p.(Val1341GlyfsTer23)"	""	""	""
"0000268404"	"00025528"	"90"	"4022"	"0"	"4023"	"0"	"c.4022_4023del"	"r.(?)"	"p.(Val1341GlyfsTer23)"	""	""	""
"0000268405"	"00024134"	"30"	"408"	"0"	"408"	"0"	"c.408C>T"	"r.(?)"	"p.(Pro136=)"	""	""	""
"0000268405"	"00025528"	"30"	"408"	"0"	"408"	"0"	"c.408C>T"	"r.(?)"	"p.(Pro136=)"	""	""	""
"0000268406"	"00024134"	"90"	"4118"	"0"	"4118"	"0"	"c.4118dup"	"r.(?)"	"p.(Thr1374AspfsTer9)"	""	""	""
"0000268406"	"00025528"	"90"	"4118"	"0"	"4118"	"0"	"c.4118dup"	"r.(?)"	"p.(Thr1374AspfsTer9)"	""	""	""
"0000268407"	"00024134"	"10"	"4122"	"0"	"4122"	"0"	"c.4122G>A"	"r.(?)"	"p.(Thr1374=)"	""	""	""
"0000268407"	"00025528"	"10"	"4122"	"0"	"4122"	"0"	"c.4122G>A"	"r.(?)"	"p.(Thr1374=)"	""	""	""
"0000268408"	"00024134"	"10"	"4135"	"0"	"4135"	"0"	"c.4135C>T"	"r.(?)"	"p.(Pro1379Ser)"	""	""	""
"0000268408"	"00025528"	"10"	"4135"	"0"	"4135"	"0"	"c.4135C>T"	"r.(?)"	"p.(Pro1379Ser)"	""	""	""
"0000268409"	"00024134"	"10"	"4176"	"9"	"4176"	"9"	"c.4176+9T>G"	"r.(=)"	"p.(=)"	""	""	""
"0000268409"	"00025528"	"10"	"4176"	"9"	"4176"	"9"	"c.4176+9T>G"	"r.(=)"	"p.(=)"	""	""	""
"0000268410"	"00024134"	"10"	"4230"	"6"	"4230"	"6"	"c.4230+6G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000268410"	"00025528"	"10"	"4230"	"6"	"4230"	"6"	"c.4230+6G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000268411"	"00024134"	"30"	"4410"	"0"	"4410"	"0"	"c.4410C>T"	"r.(?)"	"p.(Pro1470=)"	""	""	""
"0000268411"	"00025528"	"30"	"4410"	"0"	"4410"	"0"	"c.4410C>T"	"r.(?)"	"p.(Pro1470=)"	""	""	""
"0000268412"	"00024134"	"10"	"4482"	"0"	"4482"	"0"	"c.4482G>A"	"r.(?)"	"p.(Pro1494=)"	""	""	""
"0000268412"	"00025528"	"10"	"4482"	"0"	"4482"	"0"	"c.4482G>A"	"r.(?)"	"p.(Pro1494=)"	""	""	""
"0000268413"	"00024134"	"10"	"4482"	"0"	"4482"	"0"	"c.4482G>C"	"r.(?)"	"p.(Pro1494=)"	""	""	""
"0000268413"	"00025528"	"10"	"4482"	"0"	"4482"	"0"	"c.4482G>C"	"r.(?)"	"p.(Pro1494=)"	""	""	""
"0000268414"	"00024134"	"10"	"4560"	"0"	"4560"	"0"	"c.4560C>T"	"r.(?)"	"p.(Ile1520=)"	""	""	""
"0000268414"	"00025528"	"10"	"4560"	"0"	"4560"	"0"	"c.4560C>T"	"r.(?)"	"p.(Ile1520=)"	""	""	""
"0000268415"	"00024134"	"10"	"4699"	"-6"	"4699"	"-6"	"c.4699-6C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000268415"	"00025528"	"10"	"4699"	"-6"	"4699"	"-6"	"c.4699-6C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000268416"	"00024134"	"30"	"4782"	"0"	"4782"	"0"	"c.4782C>T"	"r.(?)"	"p.(Asp1594=)"	""	""	""
"0000268416"	"00025528"	"30"	"4782"	"0"	"4782"	"0"	"c.4782C>T"	"r.(?)"	"p.(Asp1594=)"	""	""	""
"0000268417"	"00024134"	"10"	"4955"	"-16"	"4955"	"-16"	"c.4955-16C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000268417"	"00025528"	"10"	"4955"	"-16"	"4955"	"-16"	"c.4955-16C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000268418"	"00024134"	"10"	"5067"	"20"	"5067"	"20"	"c.5067+20C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000268418"	"00025528"	"10"	"5067"	"20"	"5067"	"20"	"c.5067+20C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000268419"	"00024134"	"10"	"5068"	"-7"	"5068"	"-7"	"c.5068-7T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000268419"	"00025528"	"10"	"5068"	"-139"	"5068"	"-139"	"c.5068-139T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000268420"	"00024134"	"30"	"514"	"0"	"514"	"0"	"c.514G>T"	"r.(?)"	"p.(Val172Phe)"	""	""	""
"0000268420"	"00025528"	"30"	"514"	"0"	"514"	"0"	"c.514G>T"	"r.(?)"	"p.(Val172Phe)"	""	""	""
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"0000274250"	"00025528"	"50"	"3752"	"0"	"3752"	"0"	"c.3752C>T"	"r.(?)"	"p.(Pro1251Leu)"	""	""	""
"0000274251"	"00024134"	"30"	"4065"	"0"	"4065"	"0"	"c.4065C>T"	"r.(?)"	"p.(Pro1355=)"	""	""	""
"0000274251"	"00025528"	"30"	"4065"	"0"	"4065"	"0"	"c.4065C>T"	"r.(?)"	"p.(Pro1355=)"	""	""	""
"0000274252"	"00024134"	"50"	"4066"	"0"	"4066"	"0"	"c.4066G>A"	"r.(?)"	"p.(Ala1356Thr)"	""	""	""
"0000274252"	"00025528"	"50"	"4066"	"0"	"4066"	"0"	"c.4066G>A"	"r.(?)"	"p.(Ala1356Thr)"	""	""	""
"0000274253"	"00024134"	"50"	"4067"	"0"	"4067"	"0"	"c.4067C>T"	"r.(?)"	"p.(Ala1356Val)"	""	""	""
"0000274253"	"00025528"	"50"	"4067"	"0"	"4067"	"0"	"c.4067C>T"	"r.(?)"	"p.(Ala1356Val)"	""	""	""
"0000274254"	"00024134"	"10"	"4176"	"9"	"4176"	"9"	"c.4176+9T>G"	"r.(=)"	"p.(=)"	""	""	""
"0000274254"	"00025528"	"10"	"4176"	"9"	"4176"	"9"	"c.4176+9T>G"	"r.(=)"	"p.(=)"	""	""	""
"0000274255"	"00024134"	"30"	"4230"	"5"	"4230"	"5"	"c.4230+5C>T"	"r.spl?"	"p.?"	""	""	""
"0000274255"	"00025528"	"30"	"4230"	"5"	"4230"	"5"	"c.4230+5C>T"	"r.spl?"	"p.?"	""	""	""
"0000274256"	"00024134"	"30"	"4410"	"0"	"4410"	"0"	"c.4410C>T"	"r.(?)"	"p.(Pro1470=)"	""	""	""
"0000274256"	"00025528"	"30"	"4410"	"0"	"4410"	"0"	"c.4410C>T"	"r.(?)"	"p.(Pro1470=)"	""	""	""
"0000274257"	"00024134"	"30"	"4782"	"0"	"4782"	"0"	"c.4782C>T"	"r.(?)"	"p.(Asp1594=)"	""	""	""
"0000274257"	"00025528"	"30"	"4782"	"0"	"4782"	"0"	"c.4782C>T"	"r.(?)"	"p.(Asp1594=)"	""	""	""
"0000274258"	"00024134"	"50"	"4848"	"0"	"4848"	"0"	"c.4848C>G"	"r.(?)"	"p.(Asn1616Lys)"	""	""	""
"0000274258"	"00025528"	"50"	"4848"	"0"	"4848"	"0"	"c.4848C>G"	"r.(?)"	"p.(Asn1616Lys)"	""	""	""
"0000274259"	"00024134"	"30"	"4968"	"0"	"4968"	"0"	"c.4968C>T"	"r.(?)"	"p.(Val1656=)"	""	""	""
"0000274259"	"00025528"	"30"	"4968"	"0"	"4968"	"0"	"c.4968C>T"	"r.(?)"	"p.(Val1656=)"	""	""	""
"0000274260"	"00024134"	"50"	"5024"	"0"	"5024"	"0"	"c.5024C>A"	"r.(?)"	"p.(Ala1675Asp)"	""	""	""
"0000274260"	"00025528"	"50"	"5024"	"0"	"5024"	"0"	"c.5024C>A"	"r.(?)"	"p.(Ala1675Asp)"	""	""	""
"0000274261"	"00024134"	"10"	"5151"	"0"	"5151"	"0"	"c.5151C>T"	"r.(?)"	"p.(Asp1717=)"	""	""	""
"0000274261"	"00025528"	"10"	"5151"	"0"	"5151"	"0"	"c.5151C>T"	"r.(?)"	"p.(Asp1717=)"	""	""	""
"0000274262"	"00024134"	"50"	"5152"	"0"	"5152"	"0"	"c.5152G>A"	"r.(?)"	"p.(Ala1718Thr)"	""	""	""
"0000274262"	"00025528"	"50"	"5152"	"0"	"5152"	"0"	"c.5152G>A"	"r.(?)"	"p.(Ala1718Thr)"	""	""	""
"0000274263"	"00024134"	"50"	"5195"	"0"	"5195"	"0"	"c.5195G>A"	"r.(?)"	"p.(Arg1732Gln)"	""	""	""
"0000274263"	"00025528"	"50"	"5195"	"0"	"5195"	"0"	"c.5195G>A"	"r.(?)"	"p.(Arg1732Gln)"	""	""	""
"0000274264"	"00024134"	"50"	"5206"	"0"	"5206"	"0"	"c.5206G>A"	"r.(?)"	"p.(Ala1736Thr)"	""	""	""
"0000274264"	"00025528"	"50"	"5206"	"0"	"5206"	"0"	"c.5206G>A"	"r.(?)"	"p.(Ala1736Thr)"	""	""	""
"0000274265"	"00024134"	"30"	"5250"	"0"	"5250"	"0"	"c.5250G>A"	"r.(?)"	"p.(Val1750=)"	""	""	""
"0000274265"	"00025528"	"30"	"5250"	"0"	"5250"	"0"	"c.5250G>A"	"r.(?)"	"p.(Val1750=)"	""	""	""
"0000274266"	"00024134"	"10"	"5407"	"0"	"5407"	"0"	"c.5407G>A"	"r.(?)"	"p.(Asp1803Asn)"	""	""	""
"0000274266"	"00025528"	"10"	"5407"	"0"	"5407"	"0"	"c.5407G>A"	"r.(?)"	"p.(Asp1803Asn)"	""	""	""
"0000274267"	"00024134"	"30"	"5471"	"0"	"5471"	"0"	"c.5471C>T"	"r.(?)"	"p.(Ser1824Leu)"	""	""	""
"0000274267"	"00025528"	"30"	"5471"	"0"	"5471"	"0"	"c.5471C>T"	"r.(?)"	"p.(Ser1824Leu)"	""	""	""
"0000274268"	"00024134"	"10"	"574"	"0"	"574"	"0"	"c.574G>A"	"r.(?)"	"p.(Asp192Asn)"	""	""	""
"0000274268"	"00025528"	"10"	"574"	"0"	"574"	"0"	"c.574G>A"	"r.(?)"	"p.(Asp192Asn)"	""	""	""
"0000274269"	"00024134"	"10"	"61"	"0"	"61"	"0"	"c.61C>T"	"r.(?)"	"p.(Pro21Ser)"	"01"	"substitution"	"missense"
"0000274269"	"00025528"	"10"	"61"	"0"	"61"	"0"	"c.61C>T"	"r.(?)"	"p.(Pro21Ser)"	"01"	"substitution"	"missense"
"0000274270"	"00024134"	"10"	"738"	"0"	"738"	"0"	"c.738C>T"	"r.(?)"	"p.(Thr246=)"	""	""	""
"0000274270"	"00025528"	"10"	"738"	"0"	"738"	"0"	"c.738C>T"	"r.(?)"	"p.(Thr246=)"	""	""	""
"0000274271"	"00024134"	"50"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Pro252Ser)"	""	""	""
"0000274271"	"00025528"	"50"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Pro252Ser)"	""	""	""
"0000274272"	"00024134"	"30"	"761"	"0"	"761"	"0"	"c.761C>T"	"r.(?)"	"p.(Ser254Leu)"	""	""	""
"0000274272"	"00025528"	"30"	"761"	"0"	"761"	"0"	"c.761C>T"	"r.(?)"	"p.(Ser254Leu)"	""	""	""
"0000274273"	"00024134"	"30"	"849"	"0"	"849"	"0"	"c.849C>T"	"r.(?)"	"p.(Pro283=)"	""	""	""
"0000274273"	"00025528"	"30"	"849"	"0"	"849"	"0"	"c.849C>T"	"r.(?)"	"p.(Pro283=)"	""	""	""
"0000282270"	"00024134"	"10"	"4482"	"0"	"4482"	"0"	"c.4482G>C"	"r.(?)"	"p.(Pro1494=)"	""	""	""
"0000282270"	"00025528"	"10"	"4482"	"0"	"4482"	"0"	"c.4482G>C"	"r.(?)"	"p.(Pro1494=)"	""	""	""
"0000341111"	"00024134"	"50"	"3257"	"0"	"3257"	"0"	"c.3257C>T"	"r.(?)"	"p.(Ala1086Val)"	""	""	""
"0000341111"	"00025528"	"50"	"3257"	"0"	"3257"	"0"	"c.3257C>T"	"r.(?)"	"p.(Ala1086Val)"	""	""	""
"0000405953"	"00024134"	"37"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	""	"substitution"	"missense"
"0000536994"	"00024134"	"30"	"82"	"0"	"84"	"0"	"c.82_84dup"	"r.(?)"	"p.(Leu28dup)"	""	""	""
"0000536994"	"00025528"	"30"	"82"	"0"	"84"	"0"	"c.82_84dup"	"r.(?)"	"p.(Leu28dup)"	""	""	""
"0000536995"	"00024134"	"30"	"89"	"0"	"89"	"0"	"c.89C>T"	"r.(?)"	"p.(Ala30Val)"	""	""	""
"0000536995"	"00025528"	"30"	"89"	"0"	"89"	"0"	"c.89C>T"	"r.(?)"	"p.(Ala30Val)"	""	""	""
"0000536996"	"00024134"	"30"	"278"	"0"	"278"	"0"	"c.278C>T"	"r.(?)"	"p.(Ala93Val)"	""	""	""
"0000536996"	"00025528"	"30"	"278"	"0"	"278"	"0"	"c.278C>T"	"r.(?)"	"p.(Ala93Val)"	""	""	""
"0000536997"	"00024134"	"30"	"278"	"0"	"278"	"0"	"c.278C>T"	"r.(?)"	"p.(Ala93Val)"	""	""	""
"0000536997"	"00025528"	"30"	"278"	"0"	"278"	"0"	"c.278C>T"	"r.(?)"	"p.(Ala93Val)"	""	""	""
"0000536998"	"00024134"	"30"	"278"	"0"	"278"	"0"	"c.278C>T"	"r.(?)"	"p.(Ala93Val)"	""	""	""
"0000536998"	"00025528"	"30"	"278"	"0"	"278"	"0"	"c.278C>T"	"r.(?)"	"p.(Ala93Val)"	""	""	""
"0000536999"	"00024134"	"50"	"341"	"0"	"341"	"0"	"c.341C>A"	"r.(?)"	"p.(Ala114Asp)"	""	""	""
"0000536999"	"00025528"	"50"	"341"	"0"	"341"	"0"	"c.341C>A"	"r.(?)"	"p.(Ala114Asp)"	""	""	""
"0000537000"	"00024134"	"30"	"341"	"0"	"341"	"0"	"c.341C>A"	"r.(?)"	"p.(Ala114Asp)"	""	""	""
"0000537000"	"00025528"	"30"	"341"	"0"	"341"	"0"	"c.341C>A"	"r.(?)"	"p.(Ala114Asp)"	""	""	""
"0000537001"	"00024134"	"10"	"341"	"0"	"341"	"0"	"c.341C>A"	"r.(?)"	"p.(Ala114Asp)"	""	""	""
"0000537001"	"00025528"	"10"	"341"	"0"	"341"	"0"	"c.341C>A"	"r.(?)"	"p.(Ala114Asp)"	""	""	""
"0000537002"	"00024134"	"50"	"370"	"0"	"370"	"0"	"c.370G>C"	"r.(?)"	"p.(Gly124Arg)"	""	""	""
"0000537002"	"00025528"	"50"	"370"	"0"	"370"	"0"	"c.370G>C"	"r.(?)"	"p.(Gly124Arg)"	""	""	""
"0000537003"	"00024134"	"50"	"446"	"0"	"446"	"0"	"c.446C>T"	"r.(?)"	"p.(Pro149Leu)"	""	""	""
"0000537003"	"00025528"	"50"	"446"	"0"	"446"	"0"	"c.446C>T"	"r.(?)"	"p.(Pro149Leu)"	""	""	""
"0000537005"	"00024134"	"30"	"597"	"0"	"597"	"0"	"c.597C>G"	"r.(?)"	"p.(Ile199Met)"	""	""	""
"0000537005"	"00025528"	"30"	"597"	"0"	"597"	"0"	"c.597C>G"	"r.(?)"	"p.(Ile199Met)"	""	""	""
"0000537006"	"00024134"	"50"	"692"	"0"	"692"	"0"	"c.692G>A"	"r.(?)"	"p.(Arg231Gln)"	""	""	""
"0000537006"	"00025528"	"50"	"692"	"0"	"692"	"0"	"c.692G>A"	"r.(?)"	"p.(Arg231Gln)"	""	""	""
"0000537007"	"00024134"	"30"	"753"	"0"	"753"	"0"	"c.753C>T"	"r.(?)"	"p.(Thr251=)"	""	""	""
"0000537007"	"00025528"	"30"	"753"	"0"	"753"	"0"	"c.753C>T"	"r.(?)"	"p.(Thr251=)"	""	""	""
"0000537008"	"00024134"	"30"	"774"	"0"	"774"	"0"	"c.774T>C"	"r.(?)"	"p.(Asn258=)"	""	""	""
"0000537008"	"00025528"	"30"	"774"	"0"	"774"	"0"	"c.774T>C"	"r.(?)"	"p.(Asn258=)"	""	""	""
"0000537009"	"00024134"	"10"	"787"	"-15"	"787"	"-15"	"c.787-15G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000537009"	"00025528"	"10"	"787"	"-15"	"787"	"-15"	"c.787-15G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000537010"	"00024134"	"30"	"801"	"0"	"801"	"0"	"c.801C>T"	"r.(?)"	"p.(Asp267=)"	""	""	""
"0000537010"	"00025528"	"30"	"801"	"0"	"801"	"0"	"c.801C>T"	"r.(?)"	"p.(Asp267=)"	""	""	""
"0000537011"	"00024134"	"50"	"801"	"0"	"801"	"0"	"c.801C>T"	"r.(?)"	"p.(Asp267=)"	""	""	""
"0000537011"	"00025528"	"50"	"801"	"0"	"801"	"0"	"c.801C>T"	"r.(?)"	"p.(Asp267=)"	""	""	""
"0000537012"	"00024134"	"50"	"805"	"0"	"805"	"0"	"c.805G>A"	"r.(?)"	"p.(Glu269Lys)"	""	""	""
"0000537012"	"00025528"	"50"	"805"	"0"	"805"	"0"	"c.805G>A"	"r.(?)"	"p.(Glu269Lys)"	""	""	""
"0000537013"	"00024134"	"30"	"1077"	"0"	"1077"	"0"	"c.1077G>A"	"r.(?)"	"p.(Glu359=)"	""	""	""
"0000537013"	"00025528"	"30"	"1077"	"0"	"1077"	"0"	"c.1077G>A"	"r.(?)"	"p.(Glu359=)"	""	""	""
"0000537014"	"00024134"	"30"	"1158"	"0"	"1158"	"0"	"c.1158C>T"	"r.(?)"	"p.(Ser386=)"	""	""	""
"0000537014"	"00025528"	"30"	"1158"	"0"	"1158"	"0"	"c.1158C>T"	"r.(?)"	"p.(Ser386=)"	""	""	""
"0000537015"	"00024134"	"30"	"1212"	"0"	"1212"	"0"	"c.1212C>T"	"r.(?)"	"p.(Phe404=)"	""	""	""
"0000537015"	"00025528"	"30"	"1212"	"0"	"1212"	"0"	"c.1212C>T"	"r.(?)"	"p.(Phe404=)"	""	""	""
"0000537016"	"00024134"	"50"	"1304"	"0"	"1304"	"0"	"c.1304C>T"	"r.(?)"	"p.(Pro435Leu)"	""	""	""
"0000537016"	"00025528"	"50"	"1304"	"0"	"1304"	"0"	"c.1304C>T"	"r.(?)"	"p.(Pro435Leu)"	""	""	""
"0000537017"	"00024134"	"30"	"1333"	"-8"	"1333"	"-8"	"c.1333-8A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000537017"	"00025528"	"30"	"1333"	"-8"	"1333"	"-8"	"c.1333-8A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000537018"	"00024134"	"30"	"1333"	"-3"	"1333"	"-3"	"c.1333-3dup"	"r.spl?"	"p.?"	""	""	""
"0000537018"	"00025528"	"30"	"1333"	"-3"	"1333"	"-3"	"c.1333-3dup"	"r.spl?"	"p.?"	""	""	""
"0000537019"	"00024134"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356insT"	"r.(?)"	"p.(Lys452AsnfsTer164)"	""	""	""
"0000537019"	"00025528"	"90"	"1355"	"0"	"1356"	"0"	"c.1355_1356insT"	"r.(?)"	"p.(Lys452AsnfsTer164)"	""	""	""
"0000537020"	"00024134"	"30"	"1383"	"0"	"1383"	"0"	"c.1383C>T"	"r.(?)"	"p.(Ile461=)"	""	""	""
"0000537020"	"00025528"	"30"	"1383"	"0"	"1383"	"0"	"c.1383C>T"	"r.(?)"	"p.(Ile461=)"	""	""	""
"0000537021"	"00024134"	"30"	"1390"	"-12"	"1390"	"-11"	"c.1390-12_1390-11del"	"r.(=)"	"p.(=)"	""	""	""
"0000537021"	"00025528"	"30"	"1390"	"-12"	"1390"	"-11"	"c.1390-12_1390-11del"	"r.(=)"	"p.(=)"	""	""	""
"0000537022"	"00024134"	"30"	"1410"	"0"	"1410"	"0"	"c.1410G>C"	"r.(?)"	"p.(Pro470=)"	""	""	""
"0000537022"	"00025528"	"30"	"1410"	"0"	"1410"	"0"	"c.1410G>C"	"r.(?)"	"p.(Pro470=)"	""	""	""
"0000537023"	"00024134"	"30"	"1431"	"10"	"1431"	"10"	"c.1431+10C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000537023"	"00025528"	"30"	"1431"	"10"	"1431"	"10"	"c.1431+10C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000537024"	"00024134"	"30"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	""	""	""
"0000537024"	"00025528"	"30"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	""	""	""
"0000537025"	"00024134"	"30"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	""	""	""
"0000537025"	"00025528"	"30"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	""	""	""
"0000537026"	"00024134"	"90"	"1703"	"0"	"1713"	"0"	"c.1703_1713dup"	"r.(?)"	"p.(Pro572GlyfsTer14)"	""	""	""
"0000537026"	"00025528"	"90"	"1703"	"0"	"1713"	"0"	"c.1703_1713dup"	"r.(?)"	"p.(Pro572GlyfsTer14)"	""	""	""
"0000537027"	"00024134"	"50"	"1726"	"0"	"1726"	"0"	"c.1726C>T"	"r.(?)"	"p.(Pro576Ser)"	""	""	""
"0000537027"	"00025528"	"50"	"1726"	"0"	"1726"	"0"	"c.1726C>T"	"r.(?)"	"p.(Pro576Ser)"	""	""	""
"0000537028"	"00024134"	"30"	"1726"	"0"	"1726"	"0"	"c.1726C>T"	"r.(?)"	"p.(Pro576Ser)"	""	""	""
"0000537028"	"00025528"	"30"	"1726"	"0"	"1726"	"0"	"c.1726C>T"	"r.(?)"	"p.(Pro576Ser)"	""	""	""
"0000537029"	"00024134"	"50"	"1888"	"0"	"1888"	"0"	"c.1888C>T"	"r.(?)"	"p.(Arg630Trp)"	""	""	""
"0000537029"	"00025528"	"50"	"1888"	"0"	"1888"	"0"	"c.1888C>T"	"r.(?)"	"p.(Arg630Trp)"	""	""	""
"0000537030"	"00024134"	"30"	"1936"	"-16"	"1936"	"-16"	"c.1936-16C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000537030"	"00025528"	"30"	"1936"	"-16"	"1936"	"-16"	"c.1936-16C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000537031"	"00024134"	"50"	"1949"	"0"	"1949"	"0"	"c.1949C>T"	"r.(?)"	"p.(Pro650Leu)"	""	""	""
"0000537031"	"00025528"	"50"	"1949"	"0"	"1949"	"0"	"c.1949C>T"	"r.(?)"	"p.(Pro650Leu)"	""	""	""
"0000537032"	"00024134"	"30"	"1967"	"0"	"1967"	"0"	"c.1967C>T"	"r.(?)"	"p.(Pro656Leu)"	""	""	""
"0000537032"	"00025528"	"30"	"1967"	"0"	"1967"	"0"	"c.1967C>T"	"r.(?)"	"p.(Pro656Leu)"	""	""	""
"0000537033"	"00024134"	"50"	"1970"	"0"	"1970"	"0"	"c.1970C>T"	"r.(?)"	"p.(Pro657Leu)"	""	""	""
"0000537033"	"00025528"	"50"	"1970"	"0"	"1970"	"0"	"c.1970C>T"	"r.(?)"	"p.(Pro657Leu)"	""	""	""
"0000537035"	"00024134"	"10"	"2058"	"0"	"2058"	"0"	"c.2058G>A"	"r.(?)"	"p.(Pro686=)"	""	""	""
"0000537035"	"00025528"	"10"	"2058"	"0"	"2058"	"0"	"c.2058G>A"	"r.(?)"	"p.(Pro686=)"	""	""	""
"0000537036"	"00024134"	"30"	"2088"	"0"	"2088"	"0"	"c.2088C>T"	"r.(?)"	"p.(Pro696=)"	""	""	""
"0000537036"	"00025528"	"30"	"2088"	"0"	"2088"	"0"	"c.2088C>T"	"r.(?)"	"p.(Pro696=)"	""	""	""
"0000537037"	"00024134"	"90"	"2286"	"1"	"2286"	"1"	"c.2286+1del"	"r.spl?"	"p.?"	""	""	""
"0000537037"	"00025528"	"90"	"2286"	"1"	"2286"	"1"	"c.2286+1del"	"r.spl?"	"p.?"	""	""	""
"0000537038"	"00024134"	"50"	"2321"	"0"	"2321"	"0"	"c.2321A>C"	"r.(?)"	"p.(Lys774Thr)"	""	""	""
"0000537038"	"00025528"	"50"	"2321"	"0"	"2321"	"0"	"c.2321A>C"	"r.(?)"	"p.(Lys774Thr)"	""	""	""
"0000537039"	"00024134"	"30"	"2386"	"-6"	"2386"	"-6"	"c.2386-6G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000537039"	"00025528"	"30"	"2386"	"-6"	"2386"	"-6"	"c.2386-6G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000537040"	"00024134"	"30"	"2484"	"57"	"2484"	"57"	"c.2484+57T>G"	"r.(=)"	"p.(=)"	""	""	""
"0000537040"	"00025528"	"30"	"2484"	"57"	"2484"	"57"	"c.2484+57T>G"	"r.(=)"	"p.(=)"	""	""	""
"0000537041"	"00024134"	"30"	"2484"	"61"	"2484"	"61"	"c.2484+61A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000537041"	"00025528"	"30"	"2484"	"61"	"2484"	"61"	"c.2484+61A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000537042"	"00024134"	"50"	"2500"	"0"	"2500"	"0"	"c.2500C>T"	"r.(?)"	"p.(Pro834Ser)"	""	""	""
"0000537042"	"00025528"	"50"	"2500"	"0"	"2500"	"0"	"c.2500C>T"	"r.(?)"	"p.(Pro834Ser)"	""	""	""
"0000537043"	"00024134"	"90"	"2620"	"0"	"2620"	"0"	"c.2620G>C"	"r.(?)"	"p.(Gly874Arg)"	""	""	""
"0000537043"	"00025528"	"90"	"2620"	"0"	"2620"	"0"	"c.2620G>C"	"r.(?)"	"p.(Gly874Arg)"	""	""	""
"0000537044"	"00024134"	"30"	"2883"	"0"	"2883"	"0"	"c.2883A>G"	"r.(?)"	"p.(Gly961=)"	""	""	""
"0000537044"	"00025528"	"30"	"2883"	"0"	"2883"	"0"	"c.2883A>G"	"r.(?)"	"p.(Gly961=)"	""	""	""
"0000537045"	"00024134"	"90"	"2943"	"0"	"2943"	"0"	"c.2943dup"	"r.(?)"	"p.(Gly982ArgfsTer32)"	""	""	""
"0000537045"	"00025528"	"90"	"2943"	"0"	"2943"	"0"	"c.2943dup"	"r.(?)"	"p.(Gly982ArgfsTer32)"	""	""	""
"0000537046"	"00024134"	"10"	"2952"	"11"	"2952"	"11"	"c.2952+11A>T"	"r.(=)"	"p.(=)"	""	""	""
"0000537046"	"00025528"	"10"	"2952"	"11"	"2952"	"11"	"c.2952+11A>T"	"r.(=)"	"p.(=)"	""	""	""
"0000537047"	"00024134"	"10"	"2952"	"11"	"2952"	"11"	"c.2952+11A>T"	"r.(=)"	"p.(=)"	""	""	""
"0000537047"	"00025528"	"10"	"2952"	"11"	"2952"	"11"	"c.2952+11A>T"	"r.(=)"	"p.(=)"	""	""	""
"0000537048"	"00024134"	"90"	"2988"	"0"	"2988"	"0"	"c.2988dup"	"r.(?)"	"p.(Gly997ArgfsTer17)"	""	""	""
"0000537048"	"00025528"	"90"	"2988"	"0"	"2988"	"0"	"c.2988dup"	"r.(?)"	"p.(Gly997ArgfsTer17)"	""	""	""
"0000537049"	"00024134"	"50"	"3131"	"0"	"3131"	"0"	"c.3131C>T"	"r.(?)"	"p.(Ala1044Val)"	""	""	""
"0000537049"	"00025528"	"50"	"3131"	"0"	"3131"	"0"	"c.3131C>T"	"r.(?)"	"p.(Ala1044Val)"	""	""	""
"0000537050"	"00024134"	"50"	"3203"	"0"	"3203"	"0"	"c.3203T>G"	"r.(?)"	"p.(Val1068Gly)"	""	""	""
"0000537050"	"00025528"	"50"	"3203"	"0"	"3203"	"0"	"c.3203T>G"	"r.(?)"	"p.(Val1068Gly)"	""	""	""
"0000537051"	"00024134"	"50"	"3208"	"0"	"3208"	"0"	"c.3208G>A"	"r.(?)"	"p.(Ala1070Thr)"	""	""	""
"0000537051"	"00025528"	"50"	"3208"	"0"	"3208"	"0"	"c.3208G>A"	"r.(?)"	"p.(Ala1070Thr)"	""	""	""
"0000537052"	"00024134"	"30"	"3291"	"0"	"3291"	"0"	"c.3291C>T"	"r.(?)"	"p.(Ala1097=)"	""	""	""
"0000537052"	"00025528"	"30"	"3291"	"0"	"3291"	"0"	"c.3291C>T"	"r.(?)"	"p.(Ala1097=)"	""	""	""
"0000537053"	"00024134"	"30"	"3402"	"0"	"3402"	"0"	"c.3402C>T"	"r.(?)"	"p.(Asp1134=)"	""	""	""
"0000537053"	"00025528"	"30"	"3402"	"0"	"3402"	"0"	"c.3402C>T"	"r.(?)"	"p.(Asp1134=)"	""	""	""
"0000537054"	"00024134"	"50"	"3605"	"0"	"3605"	"0"	"c.3605C>T"	"r.(?)"	"p.(Pro1202Leu)"	""	""	""
"0000537054"	"00025528"	"50"	"3605"	"0"	"3605"	"0"	"c.3605C>T"	"r.(?)"	"p.(Pro1202Leu)"	""	""	""
"0000537055"	"00024134"	"30"	"3696"	"0"	"3696"	"0"	"c.3696G>A"	"r.(?)"	"p.(Leu1232=)"	""	""	""
"0000537055"	"00025528"	"30"	"3696"	"0"	"3696"	"0"	"c.3696G>A"	"r.(?)"	"p.(Leu1232=)"	""	""	""
"0000537056"	"00024134"	"50"	"3855"	"0"	"3855"	"0"	"c.3855C>T"	"r.(?)"	"p.(Gly1285=)"	""	""	""
"0000537056"	"00025528"	"50"	"3855"	"0"	"3855"	"0"	"c.3855C>T"	"r.(?)"	"p.(Gly1285=)"	""	""	""
"0000537057"	"00024134"	"30"	"3855"	"0"	"3855"	"0"	"c.3855C>T"	"r.(?)"	"p.(Gly1285=)"	""	""	""
"0000537057"	"00025528"	"30"	"3855"	"0"	"3855"	"0"	"c.3855C>T"	"r.(?)"	"p.(Gly1285=)"	""	""	""
"0000537058"	"00024134"	"30"	"3855"	"0"	"3855"	"0"	"c.3855C>T"	"r.(?)"	"p.(Gly1285=)"	""	""	""
"0000537058"	"00025528"	"30"	"3855"	"0"	"3855"	"0"	"c.3855C>T"	"r.(?)"	"p.(Gly1285=)"	""	""	""
"0000537059"	"00024134"	"50"	"3905"	"0"	"3905"	"0"	"c.3905C>T"	"r.(?)"	"p.(Pro1302Leu)"	""	""	""
"0000537059"	"00025528"	"50"	"3905"	"0"	"3905"	"0"	"c.3905C>T"	"r.(?)"	"p.(Pro1302Leu)"	""	""	""
"0000537060"	"00024134"	"50"	"4198"	"0"	"4198"	"0"	"c.4198C>T"	"r.(?)"	"p.(Pro1400Ser)"	""	""	""
"0000537060"	"00025528"	"50"	"4198"	"0"	"4198"	"0"	"c.4198C>T"	"r.(?)"	"p.(Pro1400Ser)"	""	""	""
"0000537062"	"00024134"	"50"	"4278"	"0"	"4278"	"0"	"c.4278C>T"	"r.(?)"	"p.(Gly1426=)"	""	""	""
"0000537062"	"00025528"	"50"	"4278"	"0"	"4278"	"0"	"c.4278C>T"	"r.(?)"	"p.(Gly1426=)"	""	""	""
"0000537063"	"00024134"	"50"	"4318"	"0"	"4318"	"0"	"c.4318C>G"	"r.(?)"	"p.(Arg1440Gly)"	""	""	""
"0000537063"	"00025528"	"50"	"4318"	"0"	"4318"	"0"	"c.4318C>G"	"r.(?)"	"p.(Arg1440Gly)"	""	""	""
"0000537064"	"00024134"	"30"	"4410"	"0"	"4410"	"0"	"c.4410C>T"	"r.(?)"	"p.(Pro1470=)"	""	""	""
"0000537064"	"00025528"	"30"	"4410"	"0"	"4410"	"0"	"c.4410C>T"	"r.(?)"	"p.(Pro1470=)"	""	""	""
"0000537065"	"00024134"	"30"	"4464"	"0"	"4464"	"0"	"c.4464C>A"	"r.(?)"	"p.(Ile1488=)"	""	""	""
"0000537065"	"00025528"	"30"	"4464"	"0"	"4464"	"0"	"c.4464C>A"	"r.(?)"	"p.(Ile1488=)"	""	""	""
"0000537066"	"00024134"	"10"	"4482"	"0"	"4482"	"0"	"c.4482G>A"	"r.(?)"	"p.(Pro1494=)"	""	""	""
"0000537066"	"00025528"	"10"	"4482"	"0"	"4482"	"0"	"c.4482G>A"	"r.(?)"	"p.(Pro1494=)"	""	""	""
"0000537067"	"00024134"	"30"	"4555"	"-14"	"4555"	"-14"	"c.4555-14C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000537067"	"00025528"	"30"	"4555"	"-14"	"4555"	"-14"	"c.4555-14C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000537068"	"00024134"	"10"	"4560"	"0"	"4560"	"0"	"c.4560C>T"	"r.(?)"	"p.(Ile1520=)"	""	""	""
"0000537068"	"00025528"	"10"	"4560"	"0"	"4560"	"0"	"c.4560C>T"	"r.(?)"	"p.(Ile1520=)"	""	""	""
"0000537069"	"00024134"	"50"	"4643"	"0"	"4643"	"0"	"c.4643C>T"	"r.(?)"	"p.(Ser1548Leu)"	""	""	""
"0000537069"	"00025528"	"50"	"4643"	"0"	"4643"	"0"	"c.4643C>T"	"r.(?)"	"p.(Ser1548Leu)"	""	""	""
"0000537070"	"00024134"	"50"	"4827"	"0"	"4827"	"0"	"c.4827A>C"	"r.(?)"	"p.(Glu1609Asp)"	""	""	""
"0000537070"	"00025528"	"50"	"4827"	"0"	"4827"	"0"	"c.4827A>C"	"r.(?)"	"p.(Glu1609Asp)"	""	""	""
"0000537071"	"00024134"	"50"	"4892"	"0"	"4892"	"0"	"c.4892C>A"	"r.(?)"	"p.(Thr1631Lys)"	""	""	""
"0000537071"	"00025528"	"50"	"4892"	"0"	"4892"	"0"	"c.4892C>A"	"r.(?)"	"p.(Thr1631Lys)"	""	""	""
"0000537072"	"00024134"	"90"	"4953"	"0"	"4953"	"0"	"c.4953del"	"r.(?)"	"p.(Asp1651GlufsTer78)"	""	""	""
"0000537072"	"00025528"	"90"	"4953"	"0"	"4953"	"0"	"c.4953del"	"r.(?)"	"p.(Asp1651GlufsTer78)"	""	""	""
"0000537073"	"00024134"	"90"	"5031"	"0"	"5031"	"0"	"c.5031dup"	"r.(?)"	"p.(Ser1678ValfsTer7)"	""	""	""
"0000537073"	"00025528"	"90"	"5031"	"0"	"5031"	"0"	"c.5031dup"	"r.(?)"	"p.(Ser1678ValfsTer7)"	""	""	""
"0000537074"	"00024134"	"10"	"5270"	"0"	"5270"	"0"	"c.5270C>T"	"r.(?)"	"p.(Thr1757Met)"	""	""	""
"0000537074"	"00025528"	"10"	"5270"	"0"	"5270"	"0"	"c.5270C>T"	"r.(?)"	"p.(Thr1757Met)"	""	""	""
"0000537075"	"00024134"	"30"	"5350"	"0"	"5350"	"0"	"c.5350G>A"	"r.(?)"	"p.(Ala1784Thr)"	""	""	""
"0000537075"	"00025528"	"30"	"5350"	"0"	"5350"	"0"	"c.5350G>A"	"r.(?)"	"p.(Ala1784Thr)"	""	""	""
"0000537076"	"00024134"	"30"	"5350"	"0"	"5350"	"0"	"c.5350G>A"	"r.(?)"	"p.(Ala1784Thr)"	""	""	""
"0000537076"	"00025528"	"30"	"5350"	"0"	"5350"	"0"	"c.5350G>A"	"r.(?)"	"p.(Ala1784Thr)"	""	""	""
"0000537077"	"00024134"	"30"	"5350"	"0"	"5350"	"0"	"c.5350G>A"	"r.(?)"	"p.(Ala1784Thr)"	""	""	""
"0000537077"	"00025528"	"30"	"5350"	"0"	"5350"	"0"	"c.5350G>A"	"r.(?)"	"p.(Ala1784Thr)"	""	""	""
"0000537078"	"00024134"	"30"	"5370"	"11"	"5370"	"11"	"c.5370+11C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000537078"	"00025528"	"30"	"5370"	"11"	"5370"	"11"	"c.5370+11C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000537079"	"00024134"	"10"	"5371"	"-21"	"5371"	"-21"	"c.5371-21A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000537079"	"00025528"	"10"	"5371"	"-21"	"5371"	"-21"	"c.5371-21A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000611957"	"00024134"	"50"	"193"	"0"	"193"	"0"	"c.193C>T"	"r.(?)"	"p.(Arg65Trp)"	""	""	""
"0000611957"	"00025528"	"50"	"193"	"0"	"193"	"0"	"c.193C>T"	"r.(?)"	"p.(Arg65Trp)"	""	""	""
"0000611958"	"00024134"	"30"	"1005"	"0"	"1005"	"0"	"c.1005C>T"	"r.(?)"	"p.(Ile335=)"	""	""	""
"0000611958"	"00025528"	"30"	"1005"	"0"	"1005"	"0"	"c.1005C>T"	"r.(?)"	"p.(Ile335=)"	""	""	""
"0000611959"	"00024134"	"50"	"1351"	"0"	"1351"	"0"	"c.1351G>A"	"r.(?)"	"p.(Glu451Lys)"	""	""	""
"0000611959"	"00025528"	"50"	"1351"	"0"	"1351"	"0"	"c.1351G>A"	"r.(?)"	"p.(Glu451Lys)"	""	""	""
"0000611960"	"00024134"	"50"	"1569"	"0"	"1569"	"0"	"c.1569C>T"	"r.(?)"	"p.(Pro523=)"	""	""	""
"0000611960"	"00025528"	"50"	"1569"	"0"	"1569"	"0"	"c.1569C>T"	"r.(?)"	"p.(Pro523=)"	""	""	""
"0000611961"	"00024134"	"30"	"1953"	"0"	"1953"	"0"	"c.1953C>T"	"r.(?)"	"p.(Ser651=)"	""	""	""
"0000611961"	"00025528"	"30"	"1953"	"0"	"1953"	"0"	"c.1953C>T"	"r.(?)"	"p.(Ser651=)"	""	""	""
"0000611962"	"00024134"	"50"	"2392"	"0"	"2392"	"0"	"c.2392G>A"	"r.(?)"	"p.(Asp798Asn)"	""	""	""
"0000611962"	"00025528"	"50"	"2392"	"0"	"2392"	"0"	"c.2392G>A"	"r.(?)"	"p.(Asp798Asn)"	""	""	""
"0000611963"	"00024134"	"50"	"2564"	"0"	"2564"	"0"	"c.2564C>G"	"r.(?)"	"p.(Pro855Arg)"	""	""	""
"0000611963"	"00025528"	"50"	"2564"	"0"	"2564"	"0"	"c.2564C>G"	"r.(?)"	"p.(Pro855Arg)"	""	""	""
"0000611964"	"00024134"	"50"	"2722"	"0"	"2722"	"0"	"c.2722C>T"	"r.(?)"	"p.(Pro908Ser)"	""	""	""
"0000611964"	"00025528"	"50"	"2722"	"0"	"2722"	"0"	"c.2722C>T"	"r.(?)"	"p.(Pro908Ser)"	""	""	""
"0000611965"	"00024134"	"30"	"3303"	"0"	"3303"	"0"	"c.3303C>T"	"r.(?)"	"p.(Ile1101=)"	""	""	""
"0000611965"	"00025528"	"30"	"3303"	"0"	"3303"	"0"	"c.3303C>T"	"r.(?)"	"p.(Ile1101=)"	""	""	""
"0000611966"	"00024134"	"90"	"3748"	"0"	"3748"	"0"	"c.3748C>A"	"r.(?)"	"p.(Pro1250Thr)"	""	""	""
"0000611966"	"00025528"	"90"	"3748"	"0"	"3748"	"0"	"c.3748C>A"	"r.(?)"	"p.(Pro1250Thr)"	""	""	""
"0000611967"	"00024134"	"30"	"3960"	"0"	"3960"	"0"	"c.3960C>T"	"r.(?)"	"p.(Ala1320=)"	""	""	""
"0000611967"	"00025528"	"30"	"3960"	"0"	"3960"	"0"	"c.3960C>T"	"r.(?)"	"p.(Ala1320=)"	""	""	""
"0000611968"	"00024134"	"10"	"4230"	"6"	"4230"	"6"	"c.4230+6G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000611968"	"00025528"	"10"	"4230"	"6"	"4230"	"6"	"c.4230+6G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000611969"	"00024134"	"10"	"4560"	"0"	"4560"	"0"	"c.4560C>T"	"r.(?)"	"p.(Ile1520=)"	""	""	""
"0000611969"	"00025528"	"10"	"4560"	"0"	"4560"	"0"	"c.4560C>T"	"r.(?)"	"p.(Ile1520=)"	""	""	""
"0000611970"	"00024134"	"50"	"5050"	"0"	"5050"	"0"	"c.5050G>C"	"r.(?)"	"p.(Asp1684His)"	""	""	""
"0000611970"	"00025528"	"50"	"5050"	"0"	"5050"	"0"	"c.5050G>C"	"r.(?)"	"p.(Asp1684His)"	""	""	""
"0000611971"	"00024134"	"10"	"5270"	"0"	"5270"	"0"	"c.5270C>T"	"r.(?)"	"p.(Thr1757Met)"	""	""	""
"0000611971"	"00025528"	"10"	"5270"	"0"	"5270"	"0"	"c.5270C>T"	"r.(?)"	"p.(Thr1757Met)"	""	""	""
"0000622204"	"00024134"	"50"	"145"	"0"	"145"	"0"	"c.145C>T"	"r.(?)"	"p.(His49Tyr)"	""	""	""
"0000622204"	"00025528"	"50"	"145"	"0"	"145"	"0"	"c.145C>T"	"r.(?)"	"p.(His49Tyr)"	""	""	""
"0000622205"	"00024134"	"10"	"2058"	"0"	"2058"	"0"	"c.2058G>A"	"r.(?)"	"p.(Pro686=)"	""	""	""
"0000622205"	"00025528"	"10"	"2058"	"0"	"2058"	"0"	"c.2058G>A"	"r.(?)"	"p.(Pro686=)"	""	""	""
"0000622206"	"00024134"	"30"	"3474"	"7"	"3474"	"7"	"c.3474+7C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000622206"	"00025528"	"30"	"3474"	"7"	"3474"	"7"	"c.3474+7C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000622207"	"00024134"	"30"	"3591"	"0"	"3591"	"0"	"c.3591C>T"	"r.(?)"	"p.(Asp1197=)"	""	""	""
"0000622207"	"00025528"	"30"	"3591"	"0"	"3591"	"0"	"c.3591C>T"	"r.(?)"	"p.(Asp1197=)"	""	""	""
"0000622208"	"00024134"	"30"	"4200"	"0"	"4200"	"0"	"c.4200C>T"	"r.(?)"	"p.(Pro1400=)"	""	""	""
"0000622208"	"00025528"	"30"	"4200"	"0"	"4200"	"0"	"c.4200C>T"	"r.(?)"	"p.(Pro1400=)"	""	""	""
"0000631881"	"00024134"	"99"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"13"	"deletion"	"missense"
"0000631882"	"00024134"	"97"	"4135"	"0"	"4135"	"0"	"c.4135C>T"	"r.(?)"	"p.(Pro1379Ser)"	"53"	"substitution"	"missense"
"0000631911"	"00024134"	"70"	"710"	"0"	"710"	"0"	"c.710G>A"	"r.(?)"	"p.(Cys237Tyr)"	""	""	""
"0000652654"	"00024134"	"50"	"1345"	"0"	"1345"	"0"	"c.1345C>T"	"r.(?)"	"p.(Arg449Trp)"	""	""	""
"0000652654"	"00025528"	"50"	"1345"	"0"	"1345"	"0"	"c.1345C>T"	"r.(?)"	"p.(Arg449Trp)"	""	""	""
"0000652655"	"00024134"	"50"	"1637"	"0"	"1637"	"0"	"c.1637C>T"	"r.(?)"	"p.(Ala546Val)"	""	""	""
"0000652655"	"00025528"	"50"	"1637"	"0"	"1637"	"0"	"c.1637C>T"	"r.(?)"	"p.(Ala546Val)"	""	""	""
"0000652656"	"00024134"	"30"	"2482"	"0"	"2482"	"0"	"c.2482C>T"	"r.(?)"	"p.(Arg828Trp)"	""	""	""
"0000652656"	"00025528"	"30"	"2482"	"0"	"2482"	"0"	"c.2482C>T"	"r.(?)"	"p.(Arg828Trp)"	""	""	""
"0000652657"	"00024134"	"30"	"2852"	"0"	"2852"	"0"	"c.2852A>G"	"r.(?)"	"p.(Asn951Ser)"	""	""	""
"0000652657"	"00025528"	"30"	"2852"	"0"	"2852"	"0"	"c.2852A>G"	"r.(?)"	"p.(Asn951Ser)"	""	""	""
"0000652658"	"00024134"	"50"	"3299"	"0"	"3299"	"0"	"c.3299C>T"	"r.(?)"	"p.(Pro1100Leu)"	""	""	""
"0000652658"	"00025528"	"50"	"3299"	"0"	"3299"	"0"	"c.3299C>T"	"r.(?)"	"p.(Pro1100Leu)"	""	""	""
"0000652659"	"00024134"	"50"	"4765"	"0"	"4765"	"0"	"c.4765G>A"	"r.(?)"	"p.(Ala1589Thr)"	""	""	""
"0000652659"	"00025528"	"50"	"4765"	"0"	"4765"	"0"	"c.4765G>A"	"r.(?)"	"p.(Ala1589Thr)"	""	""	""
"0000653408"	"00024134"	"50"	"2592"	"5"	"2592"	"5"	"c.2592+5G>C"	"r.(?)"	"p.(?)"	""	""	""
"0000656269"	"00024134"	"30"	"109"	"208"	"109"	"208"	"c.109+208C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000656269"	"00025528"	"30"	"109"	"208"	"109"	"208"	"c.109+208C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000656270"	"00024134"	"50"	"598"	"0"	"598"	"0"	"c.598G>A"	"r.(?)"	"p.(Asp200Asn)"	""	""	""
"0000656270"	"00025528"	"50"	"598"	"0"	"598"	"0"	"c.598G>A"	"r.(?)"	"p.(Asp200Asn)"	""	""	""
"0000656271"	"00024134"	"30"	"2332"	"-305"	"2332"	"-305"	"c.2332-305G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000656271"	"00025528"	"30"	"2332"	"-305"	"2332"	"-305"	"c.2332-305G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000656272"	"00024134"	"50"	"2425"	"0"	"2425"	"0"	"c.2425G>A"	"r.(?)"	"p.(Glu809Lys)"	""	""	""
"0000656272"	"00025528"	"50"	"2425"	"0"	"2425"	"0"	"c.2425G>A"	"r.(?)"	"p.(Glu809Lys)"	""	""	""
"0000656273"	"00024134"	"50"	"3725"	"0"	"3725"	"0"	"c.3725C>T"	"r.(?)"	"p.(Thr1242Ile)"	""	""	""
"0000656273"	"00025528"	"50"	"3725"	"0"	"3725"	"0"	"c.3725C>T"	"r.(?)"	"p.(Thr1242Ile)"	""	""	""
"0000656274"	"00024134"	"30"	"4947"	"0"	"4947"	"0"	"c.4947C>A"	"r.(?)"	"p.(Phe1649Leu)"	""	""	""
"0000656274"	"00025528"	"30"	"4947"	"0"	"4947"	"0"	"c.4947C>A"	"r.(?)"	"p.(Phe1649Leu)"	""	""	""
"0000656275"	"00024134"	"50"	"5097"	"0"	"5097"	"0"	"c.5097C>G"	"r.(?)"	"p.(Asn1699Lys)"	""	""	""
"0000656275"	"00025528"	"50"	"5068"	"-103"	"5068"	"-103"	"c.5068-103C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000656276"	"00024134"	"50"	"5136"	"132"	"5136"	"132"	"c.5136+132G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000656276"	"00025528"	"50"	"5136"	"0"	"5136"	"0"	"c.5136G>A"	"r.(?)"	"p.(Leu1712=)"	""	""	""
"0000656277"	"00024134"	"30"	"5271"	"0"	"5271"	"0"	"c.5271G>A"	"r.(?)"	"p.(Thr1757=)"	""	""	""
"0000656277"	"00025528"	"30"	"5271"	"0"	"5271"	"0"	"c.5271G>A"	"r.(?)"	"p.(Thr1757=)"	""	""	""
"0000670054"	"00024134"	"30"	"2852"	"0"	"2852"	"0"	"c.2852A>G"	"r.(?)"	"p.(Asn951Ser)"	""	""	""
"0000670054"	"00025528"	"30"	"2852"	"0"	"2852"	"0"	"c.2852A>G"	"r.(?)"	"p.(Asn951Ser)"	""	""	""
"0000673903"	"00024134"	"90"	"3179"	"0"	"3179"	"0"	"c.3179G>A"	"r.(?)"	"p.(Gly1060Glu)"	""	""	""
"0000678584"	"00024134"	"30"	"2800"	"-18"	"2800"	"-18"	"c.2800-18C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000678584"	"00025528"	"30"	"2800"	"-18"	"2800"	"-18"	"c.2800-18C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000678585"	"00024134"	"30"	"3774"	"0"	"3774"	"0"	"c.3774A>G"	"r.(?)"	"p.(Gly1258=)"	""	""	""
"0000678585"	"00025528"	"30"	"3774"	"0"	"3774"	"0"	"c.3774A>G"	"r.(?)"	"p.(Gly1258=)"	""	""	""
"0000678586"	"00024134"	"50"	"4121"	"0"	"4121"	"0"	"c.4121C>T"	"r.(?)"	"p.(Thr1374Met)"	""	""	""
"0000678586"	"00025528"	"50"	"4121"	"0"	"4121"	"0"	"c.4121C>T"	"r.(?)"	"p.(Thr1374Met)"	""	""	""
"0000678587"	"00024134"	"50"	"4651"	"0"	"4651"	"0"	"c.4651A>C"	"r.(?)"	"p.(Thr1551Pro)"	""	""	""
"0000678587"	"00025528"	"50"	"4651"	"0"	"4651"	"0"	"c.4651A>C"	"r.(?)"	"p.(Thr1551Pro)"	""	""	""
"0000690452"	"00024134"	"10"	"82"	"0"	"84"	"0"	"c.82_84del"	"r.(?)"	"p.(Leu28del)"	""	""	""
"0000690452"	"00025528"	"10"	"82"	"0"	"84"	"0"	"c.82_84del"	"r.(?)"	"p.(Leu28del)"	""	""	""
"0000690453"	"00024134"	"30"	"996"	"0"	"996"	"0"	"c.996C>T"	"r.(?)"	"p.(Asp332=)"	""	""	""
"0000690453"	"00025528"	"30"	"996"	"0"	"996"	"0"	"c.996C>T"	"r.(?)"	"p.(Asp332=)"	""	""	""
"0000690454"	"00024134"	"30"	"2485"	"-19"	"2485"	"-19"	"c.2485-19C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000690454"	"00025528"	"30"	"2485"	"-19"	"2485"	"-19"	"c.2485-19C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000690455"	"00024134"	"50"	"2914"	"0"	"2914"	"0"	"c.2914G>T"	"r.(?)"	"p.(Asp972Tyr)"	""	""	""
"0000690455"	"00025528"	"50"	"2914"	"0"	"2914"	"0"	"c.2914G>T"	"r.(?)"	"p.(Asp972Tyr)"	""	""	""
"0000690456"	"00024134"	"30"	"3474"	"7"	"3474"	"7"	"c.3474+7C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000690456"	"00025528"	"30"	"3474"	"7"	"3474"	"7"	"c.3474+7C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000690457"	"00024134"	"30"	"3691"	"-9"	"3691"	"-9"	"c.3691-9T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000690457"	"00025528"	"30"	"3691"	"-9"	"3691"	"-9"	"c.3691-9T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000690458"	"00024134"	"30"	"4231"	"-13"	"4231"	"-13"	"c.4231-13C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000690458"	"00025528"	"30"	"4231"	"-13"	"4231"	"-13"	"c.4231-13C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000703481"	"00024134"	"99"	"0"	"0"	"0"	"0"	"chr9.hg19:g.(137,440,166_137,442,686)_(137,633,699_137,638,368)dup"	"r.?"	"p.?"	"01-11"	"duplication"	"other/complex"
"0000703482"	"00024134"	"51"	"66"	"0"	"66"	"0"	"c.66G>A"	"r.(?)"	"p.(=)"	"1"	"substitution"	"silent"
"0000703483"	"00024134"	"99"	"74"	"0"	"74"	"0"	"c.74T>C"	"r.(?)"	"p.(Leu25Pro)"	"1"	"substitution"	"missense"
"0000703484"	"00024134"	"99"	"74"	"0"	"74"	"0"	"c.74T>G"	"r.(?)"	"p.(Leu25Arg)"	"1"	"substitution"	"missense"
"0000703485"	"00024134"	"99"	"87"	"0"	"87"	"0"	"c.87G>A"	"r.(?)"	"p.(Trp29*)"	"1"	"substitution"	"nonsense"
"0000703486"	"00024134"	"99"	"160"	"0"	"160"	"0"	"c.160G>T"	"r.(?)"	"p.(Gly54*)"	"2"	"substitution"	"nonsense"
"0000703487"	"00024134"	"97"	"193"	"0"	"193"	"0"	"c.193C>T"	"r.(?)"	"p.(Arg65Trp)"	"2"	"substitution"	"missense"
"0000703488"	"00024134"	"97"	"193"	"0"	"193"	"0"	"c.193C>T"	"r.(?)"	"p.(Arg65Trp)"	"2"	"substitution"	"missense"
"0000703489"	"00024134"	"71"	"194"	"0"	"194"	"0"	"c.194G>A"	"r.(?)"	"p.(Arg65Gln)"	"2"	"substitution"	"missense"
"0000703490"	"00024134"	"99"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66*) )"	"2"	"substitution"	"nonsense"
"0000703491"	"00024134"	"77"	"265"	"0"	"265"	"0"	"c.265C>T"	"r.(?)"	"p.(Gln89*)"	"2"	"substitution"	"nonsense"
"0000703492"	"00024134"	"99"	"277"	"1"	"277"	"1"	"c.277+1G>T"	"r.?"	"p.?"	"2i"	"substitution"	"splicing affected?"
"0000703493"	"00024134"	"99"	"278"	"-2"	"278"	"-2"	"c.278-2A>C"	"r.?"	"p.?"	"2i"	"substitution"	"splicing affected?"
"0000703494"	"00024134"	"51"	"278"	"0"	"278"	"0"	"c.278C>T"	"r.(?)"	"p.(Ala93Val)"	"3"	"substitution"	"missense"
"0000703495"	"00024134"	"97"	"311"	"0"	"311"	"0"	"c.311C>G"	"r.(?)"	"p.(Thr104Arg)"	"3"	"substitution"	"missense"
"0000703496"	"00024134"	"97"	"311"	"0"	"311"	"0"	"c.311C>G"	"r.(?)"	"p.(Thr104Arg)"	"3"	"substitution"	"missense"
"0000703497"	"00024134"	"11"	"367"	"0"	"367"	"0"	"c.367C>G"	"r.(?)"	"p.(Gln123Glu)"	"3"	"substitution"	"missense"
"0000703498"	"00024134"	"11"	"367"	"0"	"367"	"0"	"c.367C>G"	"r.(?)"	"p.(Gln123Glu)"	"3"	"substitution"	"missense"
"0000703499"	"00024134"	"99"	"379"	"0"	"379"	"0"	"c.379C>T"	"r.(?)"	"p.(Gln127*)"	"3"	"substitution"	"nonsense"
"0000703500"	"00024134"	"99"	"379"	"0"	"379"	"0"	"c.379C>T"	"r.(?)"	"p.(Gln127*)"	"3"	"substitution"	"nonsense"
"0000703501"	"00024134"	"99"	"420"	"0"	"420"	"0"	"c.420C>G"	"r.(?)"	"p.(Tyr140*)"	"3"	"substitution"	"nonsense"
"0000703502"	"00024134"	"99"	"466"	"0"	"466"	"0"	"c.466del"	"r.(?)"	"p.(Arg156Glyfs*24)"	"3"	"deletion"	"frameshift"
"0000703503"	"00024134"	"99"	"491"	"2"	"491"	"2"	"c.491+2T>G"	"r.?"	"p.?"	"3i"	"substitution"	"splicing affected?"
"0000703504"	"00024134"	"99"	"495"	"0"	"495"	"0"	"c.495G>A"	"r.(?)"	"p.(Trp165*)"	"4"	"substitution"	"nonsense"
"0000703505"	"00024134"	"93"	"514"	"0"	"514"	"0"	"c.514G>T"	"r.(?)"	"p.(Val172Phe)"	"4"	"substitution"	"missense"
"0000703506"	"00024134"	"97"	"532"	"0"	"532"	"0"	"c.532A>C"	"r.(?)"	"p.(Thr178Pro)"	"4"	"substitution"	"missense"
"0000703507"	"00024134"	"99"	"554"	"0"	"554"	"0"	"c.554dup"	"r.(?)"	"p.(Lys186Glufs*29)"	"4"	"duplication"	"frameshift"
"0000703508"	"00024134"	"73"	"574"	"0"	"574"	"0"	"c.574G>A"	"r.(?)"	"p.(Asp192Asn)"	"4"	"substitution"	"missense"
"0000703509"	"00024134"	"99"	"655"	"-2"	"655"	"-2"	"c.655-2A>G"	"r.?"	"p.?"	"4i"	"substitution"	"splicing affected?"
"0000703510"	"00024134"	"99"	"655"	"-1"	"924"	"1"	"c.(654+1_655-1)_(924+1_925-1)del"	"r.?"	"p.?"	"4i_6i"	"deletion"	"deletion, multi exon"
"0000703511"	"00024134"	"99"	"664"	"0"	"664"	"0"	"c.664C>T"	"r.(?)"	"p.(Gln222*)"	"5"	"substitution"	"nonsense"
"0000703512"	"00024134"	"99"	"701"	"0"	"702"	"0"	"c.701_702dup"	"r.(?)"	"p.(Asp235Metfs*53)"	"5"	"duplication"	"frameshift"
"0000703513"	"00024134"	"11"	"738"	"0"	"738"	"0"	"c.738C>T"	"r.(?)"	"p.(=)"	"5"	"substitution"	"silent"
"0000703514"	"00024134"	"99"	"757"	"0"	"757"	"0"	"c.757C>T"	"r.(?)"	"p.(Gln253*)"	"5"	"substitution"	"nonsense"
"0000703515"	"00024134"	"11"	"761"	"0"	"761"	"0"	"c.761C>T"	"r.(?)"	"p.(Ser254Leu)"	"5"	"substitution"	"missense"
"0000703516"	"00024134"	"99"	"786"	"1"	"786"	"1"	"c.786+1G>A"	"r.?"	"p.?"	"5i"	"substitution"	"splicing affected?"
"0000703517"	"00024134"	"97"	"791"	"0"	"791"	"0"	"c.791C>T"	"r.(?)"	"p.(Thr264Met)"	"6"	"substitution"	"missense"
"0000703518"	"00024134"	"35"	"805"	"0"	"805"	"0"	"c.805G>A"	"r.(?)"	"p.(Glu269Lys)"	"6"	"substitution"	"missense"
"0000703519"	"00024134"	"99"	"831"	"0"	"831"	"0"	"c.831C>A"	"r.(?)"	"p.(Tyr277*)"	"6"	"substitution"	"nonsense"
"0000703520"	"00024134"	"99"	"925"	"-2"	"925"	"-2"	"c.925-2A>G"	"r.?"	"p.?"	"6i"	"substitution"	"splicing affected?"
"0000703521"	"00024134"	"99"	"925"	"-1"	"925"	"-1"	"c.925-1G>C"	"r.(?)"	"p.([Tyr263_Glu338del;Tyr263_Asn388del])"	"6i"	"substitution"	"splicing affected?"
"0000703522"	"00024134"	"77"	"944"	"0"	"944"	"0"	"c.944C>T"	"r.(?)"	"p.(Thr315Met)"	"7"	"substitution"	"missense"
"0000703523"	"00024134"	"99"	"944"	"0"	"944"	"0"	"c.944del"	"r.(?)"	"p.(Thr315Argfs*243)"	"7"	"deletion"	"frameshift"
"0000703524"	"00024134"	"97"	"983"	"0"	"983"	"0"	"c.983G>A"	"r.(?)"	"p.(Gly328Glu)"	"7"	"substitution"	"missense"
"0000703525"	"00024134"	"99"	"1041"	"0"	"1041"	"0"	"c.1041C>G"	"r.(?)"	"p.(Tyr347*)"	"7"	"substitution"	"nonsense"
"0000703526"	"00024134"	"99"	"1053"	"0"	"1063"	"0"	"c.1053_1063del"	"r.(?)"	"p.(Tyr352Hisfs*44)"	"7"	"deletion"	"frameshift"
"0000703527"	"00024134"	"51"	"1062"	"0"	"1062"	"0"	"c.1062C>T"	"r.(?)"	"p.(=)"	"7"	"substitution"	"silent"
"0000703528"	"00024134"	"33"	"1089"	"0"	"1089"	"0"	"c.1089C>G"	"r.(?)"	"p.(Asn363Lys)"	"7"	"substitution"	"missense"
"0000703529"	"00024134"	"33"	"1089"	"0"	"1089"	"0"	"c.1089C>G"	"r.(?)"	"p.(Asn363Lys)"	"7"	"substitution"	"missense"
"0000703530"	"00024134"	"11"	"1092"	"0"	"1092"	"0"	"c.1092C>T"	"r.(?)"	"p.(=)"	"7"	"substitution"	"silent"
"0000703531"	"00024134"	"33"	"1115"	"0"	"1115"	"0"	"c.1115C>A"	"r.(?)"	"p.(Ala372Asp)"	"7"	"substitution"	"missense"
"0000703532"	"00024134"	"51"	"1158"	"0"	"1158"	"0"	"c.1158C>T"	"r.(?)"	"p.(=)"	"7"	"substitution"	"silent"
"0000703533"	"00024134"	"99"	"1165"	"-2"	"1165"	"-2"	"c.1165-2A>G"	"r.(?)"	"p.(Pro389Leufs*168)"	"7i"	"substitution"	"splicing affected?"
"0000703534"	"00024134"	"55"	"1173"	"0"	"1173"	"0"	"c.1173G>A"	"r.(?)"	"p.(Pro391=)"	"8"	"substitution"	"silent"
"0000703535"	"00024134"	"99"	"1293"	"0"	"1293"	"0"	"c.1293del"	"r.(?)"	"p.(Pro432Argfs*126)"	"8"	"deletion"	"frameshift"
"0000703536"	"00024134"	"99"	"1360"	"0"	"1360"	"0"	"c.1360C>T"	"r.(?)"	"p.(Gln454*)"	"9"	"substitution"	"nonsense"
"0000703537"	"00024134"	"99"	"1369"	"0"	"1369"	"0"	"c.1369G>T"	"r.(?)"	"p.(Glu457*)"	"9"	"substitution"	"nonsense"
"0000703538"	"00024134"	"51"	"1383"	"0"	"1383"	"0"	"c.1383C>T"	"r.(?)"	"p.(=)"	"9"	"substitution"	"silent"
"0000703539"	"00024134"	"99"	"1402"	"0"	"1402"	"0"	"c.1402G>T"	"r.(?)"	"p.(Glu468*)"	"10"	"substitution"	"nonsense"
"0000703540"	"00024134"	"99"	"1418"	"0"	"1418"	"0"	"c.1418del"	"r.(?)"	"p.(Pro473Glnfs*85)"	"10"	"deletion"	"frameshift"
"0000703541"	"00024134"	"99"	"1424"	"0"	"1424"	"0"	"c.1424G>A"	"r.(?)"	"p.(Gly475Asp)"	"10"	"substitution"	"missense"
"0000703542"	"00024134"	"51"	"1431"	"0"	"1431"	"0"	"c.1431G>A"	"r.(?)"	"p.(=)"	"10"	"substitution"	"silent"
"0000703543"	"00024134"	"99"	"1477"	"0"	"1477"	"0"	"c.1477G>A"	"r.(?)"	"p.(Gly493Arg)"	"11"	"substitution"	"missense"
"0000703544"	"00024134"	"99"	"1502"	"0"	"1502"	"0"	"c.1502del"	"r.(?)"	"p.(Pro501Leufs*57)"	"12"	"deletion"	"frameshift"
"0000703545"	"00024134"	"99"	"1532"	"0"	"1532"	"0"	"c.1532G>T"	"r.(?)"	"p.(Gly511Val)"	"12"	"substitution"	"missense"
"0000703546"	"00024134"	"99"	"1541"	"0"	"1541"	"0"	"c.1541dup"	"r.(?)"	"p.(Pro515Serfs*101)"	"12"	"duplication"	"frameshift"
"0000703547"	"00024134"	"51"	"1566"	"0"	"1566"	"0"	"c.1566G>A"	"r.(?)"	"p.(=)"	"12"	"substitution"	"silent"
"0000703548"	"00024134"	"93"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"13"	"substitution"	"missense"
"0000703549"	"00024134"	"93"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"13"	"substitution"	"missense"
"0000703550"	"00024134"	"93"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"13"	"substitution"	"missense"
"0000703551"	"00024134"	"93"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"13"	"substitution"	"missense"
"0000703552"	"00024134"	"33"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"13"	"substitution"	"missense"
"0000703553"	"00024134"	"93"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"13"	"substitution"	"missense"
"0000703554"	"00024134"	"75"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"13"	"substitution"	"missense"
"0000703555"	"00024134"	"11"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"13"	"substitution"	"missense"
"0000703556"	"00024134"	"99"	"1601"	"0"	"1601"	"0"	"c.1601del"	"r.(?)"	"p.(Gly536Alafs*22)"	"13"	"deletion"	"frameshift"
"0000703557"	"00024134"	"99"	"1651"	"0"	"1651"	"0"	"c.1651C>T"	"r.(?)"	"p.(Gln551*)"	"13"	"substitution"	"nonsense"
"0000703558"	"00024134"	"99"	"1654"	"0"	"1654"	"0"	"c.1654C>T"	"r.(?)"	"p.(Gln552*)"	"13"	"substitution"	"nonsense"
"0000703559"	"00024134"	"11"	"1662"	"9"	"1662"	"9"	"c.1662+9T>C"	"r.?"	"p.?"	"13"	"substitution"	"splicing affected?"
"0000703560"	"00024134"	"99"	"1663"	"-11"	"1663"	"-11"	"c.1663-11T>A"	"r.?"	"p.?"	"13i"	"substitution"	"splicing affected?"
"0000703561"	"00024134"	"99"	"1663"	"-2"	"1663"	"-2"	"c.1663-2A>G"	"r.?"	"p.?"	"13i"	"substitution"	"splicing affected?"
"0000703562"	"00024134"	"99"	"1670"	"0"	"1670"	"0"	"c.1670dup"	"r.(?)"	"p.(Arg558Glufs*58)"	"14"	"duplication"	"frameshift"
"0000703563"	"00024134"	"99"	"1780"	"0"	"1780"	"0"	"c.1780C>T"	"r.(?)"	"p.(Arg594*)"	"16"	"substitution"	"nonsense"
"0000703564"	"00024134"	"99"	"1780"	"0"	"1780"	"0"	"c.1780C>T"	"r.(?)"	"p.(Arg594*)"	"16"	"substitution"	"nonsense"
"0000703565"	"00024134"	"99"	"1855"	"0"	"1855"	"0"	"c.1855G>T"	"r.(?)"	"p.(Gly619*)"	"17"	"substitution"	"nonsense"
"0000703566"	"00024134"	"99"	"1884"	"0"	"1891"	"0"	"c.1884_1891del"	"r.(?)"	"p.(Asp629Phefs*16)"	"18"	"deletion"	"frameshift"
"0000703567"	"00024134"	"99"	"1906"	"0"	"1906"	"0"	"c.1906del"	"r.(?)"	"p.(Ala636Leufs*168)"	"18"	"deletion"	"frameshift"
"0000703568"	"00024134"	"99"	"1943"	"0"	"1943"	"0"	"c.1943del"	"r.(?)"	"p.(Pro648Leufs*156)"	"19"	"deletion"	"frameshift"
"0000703569"	"00024134"	"99"	"1989"	"1"	"1989"	"1"	"c.1989+1G>A"	"r.?"	"p.?"	"19i"	"substitution"	"splicing affected?"
"0000703570"	"00024134"	"99"	"1989"	"1"	"1989"	"1"	"c.1989+1G>A"	"r.?"	"p.?"	"19i"	"substitution"	"splicing affected?"
"0000703571"	"00024134"	"77"	"1989"	"1"	"1989"	"1"	"c.1989+1G>T"	"r.?"	"p.?"	"19i"	"substitution"	"splicing affected?"
"0000703572"	"00024134"	"99"	"2014"	"0"	"2014"	"0"	"c.2014del"	"r.(?)"	"p.(Arg672Glyfs*132)"	"20"	"deletion"	"frameshift"
"0000703573"	"00024134"	"51"	"2031"	"0"	"2031"	"0"	"c.2031G>A"	"r.(?)"	"p.(=)"	"20"	"substitution"	"silent"
"0000703574"	"00024134"	"99"	"2034"	"1"	"2034"	"1"	"c.2034+1G>A"	"r.?"	"p.?"	"20i"	"substitution"	"splicing affected?"
"0000703575"	"00024134"	"79"	"2034"	"1"	"2034"	"1"	"c.2034+1G>T"	"r.?"	"p.?"	"20i"	"substitution"	"splicing affected?"
"0000703576"	"00024134"	"99"	"2903"	"0"	"2903"	"0"	"c.2903del"	"r.(?)"	"p.(Pro968Leufs*106)"	"22"	"deletion"	"frameshift"
"0000703577"	"00024134"	"99"	"2159"	"0"	"2159"	"0"	"c.2159dup"	"r.(?)"	"p.(Gly721Argfs*5)"	"23"	"duplication"	"frameshift"
"0000703578"	"00024134"	"99"	"2185"	"0"	"2185"	"0"	"c.2185C>T"	"r.(?)"	"p.(Gln729*)"	"23"	"substitution"	"nonsense"
"0000703579"	"00024134"	"97"	"2203"	"0"	"2203"	"0"	"c.2203dup"	"r.(?)"	"p.(Gln735Profs*25)"	"24"	"duplication"	"frameshift"
"0000703580"	"00024134"	"77"	"2285"	"0"	"2285"	"0"	"c.2285C>T"	"r.(?)"	"p.(Pro762Leu)"	"25"	"substitution"	"missense"
"0000703581"	"00024134"	"99"	"2374"	"0"	"2374"	"0"	"c.2374C>T"	"r.(?)"	"p.(Arg792*)"	"27"	"substitution"	"nonsense"
"0000703582"	"00024134"	"99"	"2374"	"0"	"2374"	"0"	"c.2374C>T"	"r.(?)"	"p.(Arg792*)"	"27"	"substitution"	"nonsense"
"0000703583"	"00024134"	"99"	"2385"	"1"	"2385"	"1"	"c.2385+1G>A"	"r.?"	"p.?"	"27i"	"substitution"	"splicing affected?"
"0000703584"	"00024134"	"99"	"2385"	"263"	"2430"	"908"	"c.2385+263_2430+908del"	"r.(?)"	"p.(Ala797_Gly811del)"	"27i"	"deletion"	"deletion, exon"
"0000703585"	"00024134"	"99"	"2386"	"-1"	"2386"	"-1"	"c.2386-1G>A"	"r.?"	"p.?"	"28"	"substitution"	"splicing affected?"
"0000703586"	"00024134"	"99"	"2389"	"0"	"2389"	"0"	"c.2389del"	"r.(?)"	"p.(Ala797Profs*7)"	"28"	"deletion"	"frameshift"
"0000703587"	"00024134"	"99"	"2430"	"1"	"2430"	"1"	"c.2430+1G>A"	"r.?"	"p.?"	"28i"	"substitution"	"splicing affected?"
"0000703588"	"00024134"	"97"	"2436"	"0"	"2436"	"0"	"c.2436A>T"	"r.(?)"	"p.(Glu812Asp)"	"29"	"substitution"	"missense"
"0000703589"	"00024134"	"99"	"2484"	"1"	"2484"	"1"	"c.2484+1G>C"	"r.?"	"p.?"	"29i"	"substitution"	"splicing affected?"
"0000703590"	"00024134"	"11"	"2497"	"0"	"2497"	"0"	"c.2497C>T"	"r.(?)"	"p.(Pro833Ser)"	"30"	"substitution"	"missense"
"0000703591"	"00024134"	"79"	"2504"	"0"	"2504"	"0"	"c.2504G>C"	"r.(?)"	"p.(Gly835Ala)"	"30"	"substitution"	"missense"
"0000703592"	"00024134"	"59"	"2531"	"0"	"2531"	"0"	"c.2531G>C"	"r.(?)"	"p.(Gly844Ala)"	"30"	"substitution"	"missense"
"0000703593"	"00024134"	"99"	"2552"	"0"	"2553"	"0"	"c.2552_2553del"	"r.(?)"	"p.(Pro851Glnfs*3)"	"30"	"deletion"	"frameshift"
"0000703594"	"00024134"	"11"	"2588"	"0"	"2588"	"0"	"c.2588A>T"	"r.(?)"	"p.(Glu863Val)"	"30"	"substitution"	"missense"
"0000703595"	"00024134"	"99"	"2647"	"-12"	"2647"	"-12"	"c.2647-12A>G"	"r.(?)"	"p.(Gly883Leufs*195)"	"31i"	"substitution"	"splicing affected?"
"0000703596"	"00024134"	"99"	"2657"	"0"	"2657"	"0"	"c.2657del"	"r.(?)"	"p.(Gly886Aspfs*188)"	"32"	"deletion"	"frameshift"
"0000703597"	"00024134"	"99"	"2700"	"1"	"2700"	"1"	"c.2700+1G>T"	"r.?"	"p.?"	"32i"	"substitution"	"splicing affected?"
"0000703598"	"00024134"	"77"	"2722"	"0"	"2722"	"0"	"c.2722C>T"	"r.(?)"	"p.(Pro908Ser)"	"33"	"substitution"	"missense"
"0000703599"	"00024134"	"51"	"2724"	"0"	"2724"	"0"	"c.2724G>A"	"r.(?)"	"p.(=)"	"33"	"substitution"	"silent"
"0000703600"	"00024134"	"99"	"2757"	"0"	"2774"	"0"	"c.2757_2774delinsA"	"r.(?)"	"p.(Glu920Hisfs*14)"	"34"	"delins"	"frameshift"
"0000703601"	"00024134"	"99"	"2765"	"0"	"2765"	"0"	"c.2765G>A"	"r.(?)"	"p.(Gly922Asp)"	"34"	"substitution"	"missense"
"0000703602"	"00024134"	"99"	"2770"	"0"	"2770"	"0"	"c.2770dup"	"r.(?)"	"p.(Arg924Profs*16)"	"34"	"duplication"	"frameshift"
"0000703603"	"00024134"	"99"	"2844"	"1"	"2844"	"1"	"c.2844+1G>A"	"r.?"	"p.?"	"35i"	"substitution"	"splicing affected?"
"0000703604"	"00024134"	"99"	"2845"	"-2"	"2845"	"-2"	"c.2845-2A>C"	"r.?"	"p.?"	"35i"	"substitution"	"splicing affected?"
"0000703605"	"00024134"	"51"	"2852"	"0"	"2852"	"0"	"c.2852A>G"	"r.(?)"	"p.(Asn951Ser)"	"36"	"substitution"	"missense"
"0000703606"	"00024134"	"11"	"2852"	"0"	"2852"	"0"	"c.2852A>G"	"r.(?)"	"p.(Asn951Ser)"	"36"	"substitution"	"missense"
"0000703607"	"00024134"	"99"	"2891"	"0"	"2891"	"0"	"c.2891dup"	"r.(?)"	"p.(Gly967Trpfs*47)"	"36"	"duplication"	"frameshift"
"0000703608"	"00024134"	"11"	"2892"	"0"	"2892"	"0"	"c.2892C>T"	"r.(?)"	"p.(=)"	"36"	"substitution"	"silent"
"0000703609"	"00024134"	"99"	"2899"	"-1"	"2899"	"-1"	"c.2899-1G>A"	"r.(?)"	"p.(Gly967Alafs*107)"	"36i"	"substitution"	"splicing affected?"
"0000703610"	"00024134"	"99"	"2952"	"2"	"2952"	"3"	"c.2952+2_2952+3del"	"r.(?)"	"p.(Gly967_Thr984del)"	"37i"	"deletion"	"splicing affected, exon skipped"
"0000703611"	"00024134"	"99"	"2988"	"0"	"2988"	"0"	"c.2988del"	"r.(?)"	"p.(Gly997Alafs*77)"	"38"	"deletion"	"frameshift"
"0000703612"	"00024134"	"99"	"2988"	"0"	"2988"	"0"	"c.2988del"	"r.(?)"	"p.(Gly997Alafs*77)"	"38"	"deletion"	"frameshift"
"0000703613"	"00024134"	"99"	"2988"	"0"	"2988"	"0"	"c.2988del"	"r.(?)"	"p.(Gly997Alafs*77)"	"38"	"deletion"	"frameshift"
"0000703614"	"00024134"	"99"	"2988"	"0"	"2988"	"0"	"c.2988dup"	"r.(?)"	"p.(Gly997Argfs*17)"	"38"	"duplication"	"frameshift"
"0000703615"	"00024134"	"99"	"2988"	"0"	"2988"	"0"	"c.2988dup"	"r.(?)"	"p.(Gly997Argfs*17)"	"38"	"duplication"	"frameshift"
"0000703616"	"00024134"	"77"	"3023"	"0"	"3023"	"0"	"c.3023C>T"	"r.(?)"	"p.(Thr1008Met)"	"39"	"substitution"	"missense"
"0000703617"	"00024134"	"99"	"3037"	"0"	"3037"	"0"	"c.3037G>T"	"r.(?)"	"p.(Glu1013*)"	"39"	"substitution"	"nonsense"
"0000703618"	"00024134"	"99"	"3050"	"0"	"3050"	"0"	"c.3050dup"	"r.(?)"	"p.(Gly1018Trpfs*8)"	"39"	"duplication"	"frameshift"
"0000703619"	"00024134"	"99"	"3069"	"0"	"3069"	"0"	"c.3069dup"	"r.(?)"	"p.(Gly1024Argfs*2)"	"39"	"duplication"	"frameshift"
"0000703620"	"00024134"	"99"	"3110"	"0"	"3110"	"0"	"c.3110del"	"r.(?)"	"p.(Thr1037Argfs*37)"	"39"	"deletion"	"frameshift"
"0000703621"	"00024134"	"99"	"3164"	"0"	"3164"	"0"	"c.3164T>A"	"r.(?)"	"p.(Leu1055*)"	"40"	"substitution"	"nonsense"
"0000703622"	"00024134"	"99"	"3181"	"0"	"3181"	"0"	"c.3181del"	"r.(?)"	"p.(Asp1061Thrfs*13)"	"40"	"deletion"	"frameshift"
"0000703623"	"00024134"	"99"	"3184"	"0"	"3184"	"0"	"c.3184C>T"	"r.(?)"	"p.(Arg1062*)"	"40"	"substitution"	"nonsense"
"0000703624"	"00024134"	"99"	"3184"	"0"	"3184"	"0"	"c.3184C>T"	"r.(?)"	"p.(Arg1062*)"	"40"	"substitution"	"nonsense"
"0000703625"	"00024134"	"99"	"3205"	"-1"	"3205"	"-1"	"c.3205-1G>C"	"r.?"	"p.?"	"40i"	"substitution"	"splicing affected?"
"0000703626"	"00024134"	"99"	"3215"	"0"	"3215"	"0"	"c.3215G>A"	"r.(?)"	"p.(Gly1072Glu)"	"41"	"substitution"	"missense"
"0000703627"	"00024134"	"31"	"3257"	"0"	"3257"	"0"	"c.3257C>T"	"r.(?)"	"p.(Ala1086Val )"	"41"	"substitution"	"missense"
"0000703628"	"00024134"	"99"	"3258"	"33"	"3366"	"689"	"c.3258+33_3366+689delins115"	"r.(?)"	"p.(Gly1087_Pro1122del)"	"41i"	"delins"	"deletion, exon"
"0000703629"	"00024134"	"99"	"3271"	"0"	"3271"	"0"	"c.3271G>T"	"r.(?)"	"p.(Glu1091*)"	"42"	"substitution"	"nonsense"
"0000703630"	"00024134"	"99"	"3325"	"0"	"3334"	"0"	"c.3325_3334del"	"r.(?)"	"p.(Pro1112Argfs*161)"	"42"	"deletion"	"frameshift"
"0000703631"	"00024134"	"99"	"3328"	"0"	"3328"	"0"	"c.3328C>T"	"r.(?)"	"p.(Gln1110*)"	"42"	"substitution"	"nonsense"
"0000703632"	"00024134"	"77"	"3344"	"0"	"3344"	"0"	"c.3344C>T"	"r.(?)"	"p.(Pro1115Leu)"	"42"	"substitution"	"missense"
"0000703633"	"00024134"	"99"	"3367"	"-2"	"3367"	"-1"	"c.3367-2_3367-1delinsCA"	"r.?"	"p.?"	"42i"	"delins"	"splicing affected?"
"0000703634"	"00024134"	"95"	"3369"	"0"	"3431"	"0"	"c.3369_3431dup"	"r.(?)"	"p.(Glu1124_Gly1144dup)"	"43"	"duplication"	"insertion"
"0000703635"	"00024134"	"99"	"3382"	"0"	"3382"	"0"	"c.3382C>T"	"r.(?)"	"p.(Gln1128*)"	"43"	"substitution"	"nonsense"
"0000703636"	"00024134"	"99"	"3397"	"0"	"3397"	"0"	"c.3397C>T"	"r.(?)"	"p.(Arg1133*)"	"43"	"substitution"	"nonsense"
"0000703637"	"00024134"	"99"	"3397"	"0"	"3397"	"0"	"c.3397C>T"	"r.(?)"	"p.(Arg1133*)"	"43"	"substitution"	"nonsense"
"0000703638"	"00024134"	"99"	"3397"	"0"	"3397"	"0"	"c.3397C>T"	"r.(?)"	"p.(Arg1133*)"	"43"	"substitution"	"nonsense"
"0000703639"	"00024134"	"11"	"3398"	"0"	"3398"	"0"	"c.3398G>A"	"r.(?)"	"p.(Arg1133Gln)"	"43"	"substitution"	"missense"
"0000703640"	"00024134"	"99"	"3413"	"0"	"3413"	"0"	"c.3413G>A"	"r.(?)"	"p.(Gly1138Glu)"	"43"	"substitution"	"missense"
"0000703641"	"00024134"	"99"	"3413"	"0"	"3413"	"0"	"c.3413G>A"	"r.(?)"	"p.(Gly1138Glu)"	"43"	"substitution"	"missense"
"0000703642"	"00024134"	"99"	"3415"	"0"	"3416"	"0"	"c.3415_3416delinsG"	"r.(?)"	"p.(Pro1139Valfs*137)"	"43"	"delins"	"frameshift"
"0000703643"	"00024134"	"77"	"3418"	"0"	"3418"	"0"	"c.3418G>A"	"r.(?)"	"p.(Val1140Met)"	"43"	"substitution"	"missense"
"0000703644"	"00024134"	"15"	"3418"	"0"	"3418"	"0"	"c.3418G>A"	"r.(?)"	"p.(Val1138Met)"	"43"	"substitution"	"missense"
"0000703645"	"00024134"	"99"	"3450"	"0"	"3450"	"0"	"c.3450dup"	"r.(?)"	"p.(Pro1151Serfs*8)"	"43"	"duplication"	"frameshift"
"0000703646"	"00024134"	"99"	"3484"	"0"	"3484"	"0"	"c.3484G>A"	"r.(?)"	"p.(Gly1162Arg)"	"44"	"substitution"	"missense"
"0000703647"	"00024134"	"99"	"3568"	"0"	"3568"	"0"	"c.3568C>T"	"r.(?)"	"p.(Gln1190*)"	"45"	"substitution"	"nonsense"
"0000703648"	"00024134"	"55"	"3605"	"0"	"3605"	"0"	"c.3605C>T"	"r.(?)"	"p.(Pro1202Leu)"	"46"	"substitution"	"missense"
"0000703649"	"00024134"	"99"	"3680"	"0"	"3680"	"0"	"c.3680dup"	"r.(?)"	"p.(Leu1229Alafs*13)"	"46"	"duplication"	"frameshift"
"0000703650"	"00024134"	"99"	"3730"	"0"	"3731"	"0"	"c.3730_3731del"	"r.(?)"	"p.(Asp1244Argfs*22)"	"47"	"deletion"	"frameshift"
"0000703651"	"00024134"	"51"	"3746"	"0"	"3746"	"0"	"c.3746del"	"r.(?)"	"p.(Gly1249Alafs*27)"	"48"	"deletion"	"frameshift"
"0000703652"	"00024134"	"99"	"3752"	"0"	"3752"	"0"	"c.3752del"	"r.(?)"	"p.(Pro1251Argfs*25)"	"48"	"deletion"	"frameshift"
"0000703653"	"00024134"	"99"	"3769"	"0"	"3769"	"0"	"c.3769C>T"	"r.(?)"	"p.(Arg1257*)"	"48"	"substitution"	"nonsense"
"0000703654"	"00024134"	"99"	"3769"	"0"	"3769"	"0"	"c.3769C>T"	"r.(?)"	"p.(Arg1257*)"	"48"	"substitution"	"nonsense"
"0000703655"	"00024134"	"99"	"3769"	"0"	"3769"	"0"	"c.3769C>T"	"r.(?)"	"p.(Arg1257*)"	"48"	"substitution"	"nonsense"
"0000703656"	"00024134"	"99"	"3769"	"0"	"3769"	"0"	"c.3769C>T"	"r.(?)"	"p.(Arg1257*)"	"48"	"substitution"	"nonsense"
"0000703657"	"00024134"	"99"	"3769"	"0"	"3769"	"0"	"c.3769C>T"	"r.(?)"	"p.(Arg1257*)"	"48"	"substitution"	"nonsense"
"0000703658"	"00024134"	"99"	"3853"	"-1"	"3853"	"-1"	"c.3853-1G>T"	"r.?"	"p.?"	"48i"	"substitution"	"splicing affected?"
"0000703659"	"00024134"	"99"	"3874"	"0"	"3874"	"0"	"c.3874G>A"	"r.(?)"	"p.(Glu1292Lys)"	"49"	"substitution"	"missense"
"0000703660"	"00024134"	"99"	"3877"	"0"	"3877"	"0"	"c.3877C>T"	"r.(?)"	"p.(Pro1293Ser)"	"49"	"substitution"	"frameshift"
"0000703661"	"00024134"	"99"	"3887"	"0"	"3887"	"0"	"c.3887del"	"r.(?)"	"p.(Pro1296Argfs*192)"	"49"	"deletion"	"frameshift"
"0000703662"	"00024134"	"99"	"3905"	"0"	"3905"	"0"	"c.3905del"	"r.(?)"	"p.(Pro1302Argfs*186)"	"49"	"deletion"	"frameshift"
"0000703663"	"00024134"	"99"	"3905"	"0"	"3905"	"0"	"c.3905dup"	"r.(?)"	"p.(Pro1304Thrfs*29)"	"49"	"duplication"	"frameshift"
"0000703664"	"00024134"	"99"	"3906"	"3"	"3906"	"3"	"c.3906+3G>T"	"r.?"	"p.?"	"49i"	"substitution"	"splicing affected?"
"0000703665"	"00024134"	"99"	"3906"	"20"	"3906"	"20"	"c.3906+20G>A"	"r.?"	"p.?"	"49i"	"substitution"	"splicing affected?"
"0000703666"	"00024134"	"99"	"3907"	"-2"	"3907"	"-2"	"c.3907-2A>G"	"r.(?)"	"p.(Gly1303Lysfs*181)"	"49i"	"substitution"	"splicing affected?"
"0000703667"	"00024134"	"11"	"4030"	"0"	"4030"	"0"	"c.4030C>T"	"r.(?)"	"p.(Pro1344Ser)"	"51"	"substitution"	"missense"
"0000703668"	"00024134"	"99"	"4050"	"0"	"4050"	"0"	"c.4050del"	"r.(?)"	"p.(Gly1351Glufs*137)"	"51"	"deletion"	"frameshift"
"0000703669"	"00024134"	"99"	"4050"	"0"	"4050"	"0"	"c.4050dup"	"r.(?)"	"p.(Gly1351Argfs*14)"	"51"	"duplication"	"frameshift"
"0000703670"	"00024134"	"95"	"4050"	"0"	"4050"	"0"	"c.4050dup"	"r.(?)"	"p.(Gly1351Argfs*14)"	"51"	"duplication"	"frameshift"
"0000703671"	"00024134"	"97"	"4050"	"0"	"4050"	"0"	"c.4050dup"	"r.(?)"	"p.(Gly1351Argfs*14)"	"51"	"duplication"	"frameshift"
"0000703672"	"00024134"	"51"	"4065"	"0"	"4065"	"0"	"c.4065C>T"	"r.(?)"	"p.(=)"	"51"	"substitution"	"silent"
"0000703673"	"00024134"	"99"	"4068"	"0"	"4068"	"0"	"c.4068G>A"	"r.(?)"	"p.(Gly1339_Ala1356del)"	"51"	"substitution"	"splicing affected, exon skipped"
"0000703674"	"00024134"	"55"	"4068"	"0"	"4068"	"0"	"c.4068G>A"	"r.(?)"	"p.(=)"	"51"	"substitution"	"splicing affected?"
"0000703675"	"00024134"	"99"	"4068"	"0"	"4068"	"0"	"c.4068G>A"	"r.(?)"	"p.(Gly1339_Ala1356del)"	"51"	"substitution"	"splicing affected, exon skipped"
"0000703676"	"00024134"	"99"	"4068"	"0"	"4068"	"0"	"c.4068G>T"	"r.(?)"	"p.(Gly1339_Ala1356del)"	"51"	"substitution"	"splicing affected, exon skipped"
"0000703677"	"00024134"	"99"	"4104"	"0"	"4105"	"0"	"c.4104_4105dup"	"r.(?)"	"p.(Gly1369Valfs*120)"	"52"	"duplication"	"frameshift"
"0000703678"	"00024134"	"51"	"4122"	"0"	"4122"	"0"	"c.4122G>A"	"r.(?)"	"p.(=)"	"52"	"substitution"	"silent"
"0000703679"	"00024134"	"99"	"4123"	"-1"	"4123"	"-1"	"c.4123-1G>A"	"r.?"	"p.?"	"52i"	"substitution"	"splicing affected?"
"0000703680"	"00024134"	"51"	"4135"	"0"	"4135"	"0"	"c.4135C>T"	"r.(?)"	"p.(Pro1379Ser)"	"53"	"substitution"	"missense"
"0000703681"	"00024134"	"71"	"4135"	"0"	"4135"	"0"	"c.4135C>T"	"r.(?)"	"p.(Pro1379Ser)"	"53"	"substitution"	"missense"
"0000703682"	"00024134"	"71"	"4135"	"0"	"4135"	"0"	"c.4135C>T"	"r.(?)"	"p.(Pro1379Ser)"	"53"	"substitution"	"missense"
"0000703683"	"00024134"	"99"	"4148"	"0"	"4148"	"0"	"c.4148del"	"r.(?)"	"p.(Pro1383Glnfs*105)"	"53"	"deletion"	"frameshift"
"0000703684"	"00024134"	"51"	"4162"	"0"	"4162"	"0"	"c.4162C>T"	"r.(?)"	"p.(Pro1388Ser)"	"53"	"substitution"	"missense"
"0000703685"	"00024134"	"99"	"4178"	"0"	"4178"	"0"	"c.4178G>A"	"r.(?)"	"p.(Gly1393Asp)"	"54"	"substitution"	"missense"
"0000703686"	"00024134"	"99"	"4203"	"0"	"4203"	"0"	"c.4203dup"	"r.(?)"	"p.(Gly1402Argfs*80)"	"54"	"duplication"	"frameshift"
"0000703687"	"00024134"	"99"	"4231"	"-1"	"4231"	"-1"	"c.4231-1G>A"	"r.?"	"p.?"	"54i"	"substitution"	"splicing affected?"
"0000703688"	"00024134"	"99"	"4234"	"0"	"4234"	"0"	"c.4234G>T"	"r.(?)"	"p.(Glu1412*)"	"55"	"substitution"	"nonsense"
"0000703689"	"00024134"	"55"	"4290"	"0"	"4290"	"0"	"c.4290C>T"	"r.(?)"	"p.(Ala1430=)"	"55"	"substitution"	"silent"
"0000703690"	"00024134"	"99"	"4291"	"0"	"4292"	"0"	"c.4291_4292del"	"r.(?)"	"p.(Pro1431Trpfs*50)"	"55"	"deletion"	"frameshift"
"0000703691"	"00024134"	"99"	"4293"	"0"	"4293"	"0"	"c.4293del"	"r.(?)"	"p.(Lys1433Serfs*55)"	"55"	"deletion"	"frameshift"
"0000703692"	"00024134"	"99"	"4339"	"-1"	"4339"	"-1"	"c.4339-1G>A"	"r.(?)"	"p.(Gly1447Glufs*40)"	"55i"	"deletion"	"splicing affected?"
"0000703693"	"00024134"	"99"	"4339"	"-1"	"4339"	"-1"	"c.4339-1G>A"	"r.(?)"	"p.(Gly1447Glufs*40)"	"55i"	"deletion"	"splicing affected?"
"0000703694"	"00024134"	"99"	"4383"	"0"	"4383"	"0"	"c.4383del"	"r.(?)"	"p.(Gly1462Alafs*26)"	"56"	"deletion"	"frameshift"
"0000703695"	"00024134"	"99"	"4383"	"0"	"4383"	"0"	"c.4383del"	"r.(?)"	"p.(Gly1462Alafs*26)"	"56"	"deletion"	"frameshift"
"0000703696"	"00024134"	"51"	"4409"	"0"	"4409"	"0"	"c.4409C>T"	"r.(?)"	"p.(Pro1470Leu)"	"57"	"substitution"	"silent"
"0000703697"	"00024134"	"99"	"4414"	"0"	"4414"	"0"	"c.4414del"	"r.(?)"	"p.(Leu1472Serfs*16)"	"57"	"deletion"	"frameshift"
"0000703698"	"00024134"	"99"	"4447"	"0"	"4447"	"0"	"c.4447G>T"	"r.(?)"	"p.(Gly1483Cys) )"	"58"	"substitution"	"missense"
"0000703699"	"00024134"	"99"	"4456"	"0"	"4456"	"0"	"c.4456G>T"	"r.(?)"	"p.(Gly1486Cys)"	"58"	"substitution"	"missense"
"0000703700"	"00024134"	"99"	"4465"	"0"	"4465"	"0"	"c.4465G>A"	"r.(?)"	"p.(Gly1489Arg)"	"58"	"substitution"	"missense"
"0000703701"	"00024134"	"99"	"4465"	"0"	"4465"	"0"	"c.4465G>A"	"r.(?)"	"p.(Gly1489Arg)"	"58"	"substitution"	"missense"
"0000703702"	"00024134"	"99"	"4466"	"0"	"4466"	"0"	"c.4466G>A"	"r.(?)"	"p.(Gly1489Glu)"	"58"	"substitution"	"missense"
"0000703703"	"00024134"	"99"	"4474"	"0"	"4474"	"0"	"c.4474G>A"	"r.(?)"	"p.(Gly1492Ser)"	"58"	"substitution"	"missense"
"0000703704"	"00024134"	"99"	"4474"	"0"	"4474"	"0"	"c.4474G>A"	"r.(?)"	"p.(Gly1492Ser)"	"58"	"substitution"	"missense"
"0000703705"	"00024134"	"11"	"4482"	"0"	"4482"	"0"	"c.4482G>A"	"r.(?)"	"p.(=)"	"58"	"substitution"	"silent"
"0000703706"	"00024134"	"11"	"4482"	"0"	"4482"	"0"	"c.4482G>C"	"r.(?)"	"p.(=)"	"58"	"substitution"	"silent"
"0000703707"	"00024134"	"77"	"4483"	"0"	"4483"	"0"	"c.4483G>A"	"r.(?)"	"p.(Gly1495Ser)"	"58"	"substitution"	"missense"
"0000703708"	"00024134"	"99"	"4493"	"0"	"4493"	"0"	"c.4493G>T"	"r.(?)"	"p.(Gly1498Val)"	"58"	"substitution"	"missense"
"0000703709"	"00024134"	"99"	"4552"	"0"	"4552"	"0"	"c.4552C>T"	"r.(?)"	"p.(Gln1518*)"	"58"	"substitution"	"nonsense"
"0000703710"	"00024134"	"99"	"4552"	"0"	"4552"	"0"	"c.4552C>T"	"r.(?)"	"p.(Gln1518*)"	"58"	"substitution"	"nonsense"
"0000703711"	"00024134"	"51"	"4560"	"0"	"4560"	"0"	"c.4560C>T"	"r.(?)"	"p.(=)"	"59"	"substitution"	"silent"
"0000703712"	"00024134"	"99"	"4564"	"0"	"4564"	"0"	"c.4564G>T"	"r.(?)"	"p.(Gly1522Cys)"	"59"	"substitution"	"missense"
"0000703713"	"00024134"	"99"	"4610"	"0"	"4610"	"0"	"c.4610G>T"	"r.(?)"	"p.(Gly1537Val)"	"60"	"substitution"	"missense"
"0000703714"	"00024134"	"99"	"4688"	"0"	"4688"	"0"	"c.4688dup"	"r.(?)"	"p.(Gly1564Argfs*60)"	"61"	"duplication"	"frameshift"
"0000703715"	"00024134"	"99"	"4691"	"0"	"4691"	"0"	"c.4691G>A"	"r.(?)"	"p.(Gly1564Asp)"	"61"	"substitution"	"missense"
"0000703716"	"00024134"	"51"	"4692"	"0"	"4692"	"0"	"c.4692C>T"	"r.(?)"	"p.(=)"	"61"	"substitution"	"silent"
"0000703717"	"00024134"	"99"	"4697"	"0"	"4697"	"0"	"c.4697dup"	"r.(?)"	"p.(Glu1571Argfs*53)"	"61"	"duplication"	"frameshift"
"0000703718"	"00024134"	"99"	"4706"	"0"	"4706"	"0"	"c.4706dup"	"r.(?)"	"p.(Glu1571Argfs*53)"	"62"	"duplication"	"frameshift"
"0000703719"	"00024134"	"99"	"4714"	"0"	"4714"	"0"	"c.4714del"	"r.(?)"	"p.(Val1572Serfs*47)"	"62"	"deletion"	"frameshift"
"0000703720"	"00024134"	"99"	"4720"	"0"	"4720"	"0"	"c.4720C>T"	"r.(?)"	"p.(Gln1574*)"	"62"	"substitution"	"nonsense"
"0000703721"	"00024134"	"99"	"4723"	"0"	"4745"	"0"	"c.4723_4745del"	"r.(?)"	"p.(Pro1575Aspfs*41)"	"62"	"deletion"	"frameshift"
"0000703722"	"00024134"	"11"	"4836"	"0"	"4836"	"0"	"c.4836C>T"	"r.(?)"	"p.(Phe1612=)"	"62"	"substitution"	"silent"
"0000703723"	"00024134"	"99"	"4916"	"0"	"4916"	"0"	"c.4916G>A"	"r.(?)"	"p.(Cys1639Tyr)"	"62"	"substitution"	"missense"
"0000703724"	"00024134"	"99"	"4916"	"0"	"4916"	"0"	"c.4916G>C"	"r.(?)"	"p.(Cys1639Ser)"	"62"	"substitution"	"missense"
"0000703725"	"00024134"	"99"	"4916"	"0"	"4931"	"0"	"c.4916_4931del"	"r.(?)"	"p.(Cys1639Serfs*85)"	"62"	"deletion"	"frameshift"
"0000703726"	"00024134"	"99"	"4919"	"0"	"4928"	"0"	"c.4919_4928del"	"r.(?)"	"p.(Lys1640Serfs*86) )"	"62"	"deletion"	"frameshift"
"0000703727"	"00024134"	"99"	"4955"	"-2"	"4955"	"-2"	"c.4955-2A>G"	"r.?"	"p.?"	"62i"	"substitution"	"splicing affected?"
"0000703728"	"00024134"	"99"	"4955"	"-2"	"4955"	"-2"	"c.4955-2A>G"	"r.?"	"p.?"	"62i"	"substitution"	"splicing affected?"
"0000703729"	"00024134"	"99"	"4955"	"-2"	"4955"	"-2"	"c.4955-2A>G"	"r.?"	"p.?"	"62i"	"substitution"	"splicing affected?"
"0000703730"	"00024134"	"99"	"4962"	"0"	"4962"	"0"	"c.4962C>G"	"r.(?)"	"p.(Tyr1654*)"	"63"	"substitution"	"nonsense"
"0000703731"	"00024134"	"97"	"5021"	"0"	"5021"	"0"	"c.5021_5021del"	"r.(?)"	"p.(Thr1674Lysfs*55)"	"63"	"deletion"	"frameshift"
"0000703732"	"00024134"	"99"	"5031"	"0"	"5031"	"0"	"c.5031dup"	"r.(?)"	"p.(Ser1678Valfs*7)"	"63"	"duplication"	"frameshift"
"0000703733"	"00024134"	"99"	"0"	"0"	"0"	"0"	"c.(5067+1_5068-1)_(5370+?)del"	"r.?"	"p.?"	"63i_65i"	"deletion"	"deletion, multi exon"
"0000703734"	"00024134"	"51"	"5116"	"0"	"5116"	"0"	"c.5116G>C"	"r.(?)"	"p.(Glu1706Gln)"	"64"	"substitution"	"missense"
"0000703735"	"00024134"	"51"	"5118"	"0"	"5118"	"0"	"c.5118A>G"	"r.(?)"	"p.(=)"	"64"	"substitution"	"silent"
"0000703736"	"00024134"	"51"	"5120"	"0"	"5120"	"0"	"c.5120T>A"	"r.(?)"	"p.(Phe1707Tyr)"	"64"	"substitution"	"missense"
"0000703737"	"00024134"	"51"	"5127"	"0"	"5127"	"0"	"c.5127T>G"	"r.(?)"	"p.(=)"	"64"	"substitution"	"silent"
"0000703738"	"00024134"	"99"	"5137"	"-11"	"5137"	"-11"	"c.5137-11T>A"	"r.?"	"p.?"	"64i"	"substitution"	"splicing affected?"
"0000703739"	"00024134"	"51"	"5151"	"0"	"5151"	"0"	"c.5151C>T"	"r.(?)"	"p.(=)"	"65"	"substitution"	"silent"
"0000703740"	"00024134"	"59"	"5162"	"0"	"5162"	"0"	"c.5162del"	"r.(?)"	"p.(Asn1721Thrfs*8)"	"65"	"substitution"	"frameshift"
"0000703741"	"00024134"	"51"	"5190"	"0"	"5190"	"0"	"c.5190C>T"	"r.(?)"	"p.(=)"	"65"	"substitution"	"silent"
"0000703742"	"00024134"	"33"	"5267"	"0"	"5267"	"0"	"c.5267C>G"	"r.(?)"	"p.(Ala1756Gly)"	"65"	"substitution"	"missense"
"0000703743"	"00024134"	"51"	"5270"	"0"	"5270"	"0"	"c.5270C>T"	"r.(?)"	"p.(Thr1757Met)"	"65"	"substitution"	"missense"
"0000703744"	"00024134"	"51"	"5270"	"0"	"5270"	"0"	"c.5270C>T"	"r.(?)"	"p.(Thr1757Met)"	"65"	"substitution"	"missense"
"0000703745"	"00024134"	"71"	"5270"	"0"	"5270"	"0"	"c.5270C>T"	"r.(?)"	"p.(Thr1757Met)"	"65"	"substitution"	"missense"
"0000703746"	"00024134"	"99"	"5287"	"0"	"5287"	"0"	"c.5287del"	"r.(?)"	"p.(Ala1763Profs*104)"	"65"	"deletion"	"frameshift"
"0000703747"	"00024134"	"99"	"5298"	"0"	"5315"	"0"	"c.5298_5315del"	"r.(?)"	"p.(Phe1766_Glu1772delinsLeu)"	"65"	"deletion"	"delins"
"0000703748"	"00024134"	"31"	"5311"	"0"	"5311"	"0"	"c.5311G>A"	"r.(?)"	"p.(Asp1771Asn)"	"65"	"substitution"	"missense"
"0000703749"	"00024134"	"97"	"5335"	"0"	"5335"	"0"	"c.5335A>G"	"r.(?)"	"p.(Asn1779Asp)"	"65"	"substitution"	"missense"
"0000703750"	"00024134"	"99"	"5370"	"3"	"5370"	"6"	"c.5370+3_5370+6del"	"r.?"	"p.?"	"65i"	"deletion"	"splicing affected?"
"0000703751"	"00024134"	"51"	"5407"	"0"	"5407"	"0"	"c.5407G>A"	"r.(?)"	"p.(Asp1803Asn)"	"66"	"substitution"	"missense"
"0000703752"	"00024134"	"99"	"5458"	"0"	"5459"	"0"	"c.5458_5459del"	"r.(?)"	"p.(Phe1820Argfs*2)"	"66"	"deletion"	"frameshift"
"0000703753"	"00024134"	"99"	"5494"	"0"	"5494"	"0"	"c.5494G>A"	"r.(?)"	"p.(Gly1832Arg)"	"66"	"substitution"	"missense"
"0000703754"	"00024134"	"99"	"5504"	"0"	"5504"	"0"	"c.5504G>C"	"r.(?)"	"p.(Cys1835Ser)"	"66"	"substitution"	"missense"
"0000703755"	"00024134"	"11"	"5600"	"0"	"5600"	"0"	"c.*83C>T"	"r.(?)"	"p.?"	"66"	"substitution"	"other/complex"
"0000703756"	"00024134"	"11"	"5784"	"0"	"5784"	"0"	"c.*267C>T"	"r.(?)"	"p.?"	"66"	"substitution"	"other/complex"
"0000703757"	"00024134"	"11"	"5828"	"0"	"5828"	"0"	"c.*311C>T"	"r.(?)"	"p.?"	"66"	"substitution"	"other/complex"
"0000703758"	"00024134"	"11"	"6250"	"0"	"6250"	"0"	"c.*733C>A"	"r.(?)"	"p.?"	"66"	"substitution"	"other/complex"
"0000703759"	"00024134"	"11"	"6411"	"0"	"6411"	"0"	"c.*894T>C"	"r.(?)"	"p.?"	"66"	"substitution"	"other/complex"
"0000703760"	"00024134"	"11"	"7912"	"0"	"7912"	"0"	"c.*2395G>T"	"r.(?)"	"p.?"	"66"	"substitution"	"other/complex"
"0000703761"	"00024134"	"11"	"8018"	"0"	"8018"	"0"	"c.*2501T>C"	"r.(?)"	"p.?"	"66"	"substitution"	"other/complex"
"0000703911"	"00025528"	"77"	"5072"	"0"	"5077"	"0"	"c.5072_5077delinsT"	"r.(?)"	"p.(Lys1691Ilefs*13)"	""	"delins"	"frameshift"
"0000703974"	"00024134"	"50"	"3167"	"0"	"3167"	"0"	"c.3167G>A"	"r.(?)"	"p.(Arg1056His)"	"44"	""	"missense"
"0000703974"	"00025528"	"50"	"3167"	"0"	"3167"	"0"	"c.3167G>A"	"r.(?)"	"p.(Arg1056His)"	""	""	""
"0000722359"	"00024134"	"30"	"187"	"0"	"187"	"0"	"c.187G>A"	"r.(?)"	"p.(Ala63Thr)"	""	""	""
"0000722359"	"00025528"	"30"	"187"	"0"	"187"	"0"	"c.187G>A"	"r.(?)"	"p.(Ala63Thr)"	""	""	""
"0000722360"	"00024134"	"50"	"791"	"0"	"791"	"0"	"c.791C>T"	"r.(?)"	"p.(Thr264Met)"	""	""	""
"0000722360"	"00025528"	"50"	"791"	"0"	"791"	"0"	"c.791C>T"	"r.(?)"	"p.(Thr264Met)"	""	""	""
"0000722361"	"00024134"	"30"	"1345"	"0"	"1345"	"0"	"c.1345C>T"	"r.(?)"	"p.(Arg449Trp)"	""	""	""
"0000722361"	"00025528"	"30"	"1345"	"0"	"1345"	"0"	"c.1345C>T"	"r.(?)"	"p.(Arg449Trp)"	""	""	""
"0000722362"	"00024134"	"30"	"1494"	"284"	"1494"	"284"	"c.1494+284C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000722362"	"00025528"	"30"	"1494"	"284"	"1494"	"284"	"c.1494+284C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000722363"	"00024134"	"30"	"1587"	"0"	"1587"	"0"	"c.1587C>T"	"r.(?)"	"p.(Gly529=)"	""	""	""
"0000722363"	"00025528"	"30"	"1587"	"0"	"1587"	"0"	"c.1587C>T"	"r.(?)"	"p.(Gly529=)"	""	""	""
"0000722364"	"00024134"	"30"	"1827"	"16"	"1827"	"16"	"c.1827+16G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000722364"	"00025528"	"30"	"1827"	"16"	"1827"	"16"	"c.1827+16G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000722365"	"00024134"	"10"	"1935"	"8"	"1935"	"8"	"c.1935+8T>G"	"r.(=)"	"p.(=)"	""	""	""
"0000722365"	"00025528"	"10"	"1935"	"8"	"1935"	"8"	"c.1935+8T>G"	"r.(=)"	"p.(=)"	""	""	""
"0000722366"	"00024134"	"30"	"1998"	"0"	"1998"	"0"	"c.1998C>T"	"r.(?)"	"p.(Asp666=)"	""	""	""
"0000722366"	"00025528"	"30"	"1998"	"0"	"1998"	"0"	"c.1998C>T"	"r.(?)"	"p.(Asp666=)"	""	""	""
"0000722367"	"00024134"	"30"	"2034"	"115"	"2034"	"115"	"c.2034+115C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000722367"	"00025528"	"30"	"2034"	"115"	"2034"	"115"	"c.2034+115C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000722368"	"00024134"	"30"	"3069"	"0"	"3069"	"0"	"c.3069C>T"	"r.(?)"	"p.(Pro1023=)"	""	""	""
"0000722368"	"00025528"	"30"	"3069"	"0"	"3069"	"0"	"c.3069C>T"	"r.(?)"	"p.(Pro1023=)"	""	""	""
"0000722369"	"00024134"	"30"	"4339"	"-14"	"4339"	"-13"	"c.4339-14_4339-13insGCC"	"r.(=)"	"p.(=)"	""	""	""
"0000722369"	"00025528"	"30"	"4339"	"-14"	"4339"	"-13"	"c.4339-14_4339-13insGCC"	"r.(=)"	"p.(=)"	""	""	""
"0000722370"	"00024134"	"30"	"4383"	"0"	"4383"	"0"	"c.4383C>T"	"r.(?)"	"p.(Pro1461=)"	""	""	""
"0000722370"	"00025528"	"30"	"4383"	"0"	"4383"	"0"	"c.4383C>T"	"r.(?)"	"p.(Pro1461=)"	""	""	""
"0000722371"	"00024134"	"30"	"4473"	"0"	"4473"	"0"	"c.4473C>T"	"r.(?)"	"p.(Ile1491=)"	""	""	""
"0000722371"	"00025528"	"30"	"4473"	"0"	"4473"	"0"	"c.4473C>T"	"r.(?)"	"p.(Ile1491=)"	""	""	""
"0000722372"	"00024134"	"50"	"4577"	"0"	"4577"	"0"	"c.4577C>T"	"r.(?)"	"p.(Pro1526Leu)"	""	""	""
"0000722372"	"00025528"	"50"	"4577"	"0"	"4577"	"0"	"c.4577C>T"	"r.(?)"	"p.(Pro1526Leu)"	""	""	""
"0000722373"	"00024134"	"30"	"4698"	"0"	"4698"	"0"	"c.4698G>A"	"r.(?)"	"p.(Pro1566=)"	""	""	""
"0000722373"	"00025528"	"30"	"4698"	"0"	"4698"	"0"	"c.4698G>A"	"r.(?)"	"p.(Pro1566=)"	""	""	""
"0000733021"	"00024134"	"90"	"109"	"3"	"109"	"3"	"c.109+3A>T"	"r.spl?"	"p.?"	""	""	"splicing affected"
"0000733022"	"00024134"	"90"	"116"	"0"	"117"	"0"	"c.116_117dup"	"r.(?)"	"p.(Ala40Glnfs*5)"	""	""	"frameshift"
"0000733024"	"00024134"	"90"	"370"	"0"	"381"	"0"	"c.370_381del"	"r.(?)"	"p.(Gly124_Gln127del)"	""	""	"deletion"
"0000733025"	"00024134"	"70"	"493"	"0"	"493"	"0"	"c.493T>A"	"r.(?)"	"p.(Trp165Arg)"	""	"substitution"	"missense"
"0000733026"	"00024134"	"90"	"521"	"0"	"521"	"0"	"c.521del"	"r.(?)"	"p.(Lys174Argfs*6)"	""	"deletion, small"	"frameshift"
"0000733027"	"00024134"	"90"	"655"	"-2"	"655"	"-2"	"c.655-2A>C"	"r.spl?"	"p.?"	""	""	"splicing affected"
"0000733028"	"00024134"	"90"	"728"	"0"	"731"	"0"	"c.728_731del"	"r.(?)"	"p.(Asp243Valfs*43)"	""	"deletion"	"frameshift"
"0000733029"	"00024134"	"90"	"822"	"0"	"822"	"0"	"c.822C>G"	"r.(?)"	"p.(Tyr274*)"	""	""	"nonsense"
"0000733030"	"00024134"	"90"	"1240"	"0"	"1240"	"0"	"c.1240G>T"	"r.(?)"	"p.(Glu414*)"	""	""	"nonsense"
"0000733031"	"00024134"	"90"	"1389"	"2"	"1389"	"2"	"c.1389+2T>C"	"r.spl?"	"p.?"	""	""	""
"0000733032"	"00024134"	"90"	"1622"	"0"	"1635"	"0"	"c.1622_1635del"	"r.(?)"	"p.(Ala541Glyfs*70)"	""	""	""
"0000733033"	"00024134"	"90"	"1662"	"5"	"1662"	"5"	"c.1662+5G>A"	"r.spl?"	"p.?"	""	""	""
"0000733034"	"00024134"	"90"	"1780"	"0"	"1780"	"0"	"c.1780C>T"	"r.(?)"	"p.(Arg594*)"	""	""	""
"0000733035"	"00024134"	"90"	"1836"	"0"	"1836"	"0"	"c.1836del"	"r.(?)"	"p.(Ser614Valfs*190)"	""	""	""
"0000733036"	"00024134"	"90"	"2034"	"1"	"2034"	"1"	"c.2034+1G>A"	"r.spl?"	"p.?"	""	""	""
"0000733037"	"00024134"	"90"	"2269"	"0"	"2270"	"0"	"c.2269_2270del"	"r.(?)"	"p.(Gly757Cysfs*2)"	""	""	""
"0000733038"	"00024134"	"90"	"2278"	"0"	"2278"	"0"	"c.2278G>T"	"r.(?)"	"p.(Gly760*)"	""	""	""
"0000733039"	"00024134"	"90"	"2331"	"5"	"2331"	"5"	"c.2331+5G>C"	"r.spl?"	"p.?"	""	""	"splicing affected"
"0000734565"	"00024134"	"90"	"2430"	"2"	"2430"	"2"	"c.2430+2T>G"	"r.spl?"	"p.?"	""	""	"splicing affected"
"0000734566"	"00024134"	"90"	"2700"	"1"	"2700"	"1"	"c.2700+1G>A"	"r.spl?"	"p.?"	""	""	"splicing affected"
"0000734569"	"00024134"	"90"	"2800"	"-2"	"2800"	"-2"	"c.2800-2A>G"	"r.spl?"	"p.?"	""	""	"splicing affected"
"0000734600"	"00024134"	"90"	"3217"	"0"	"3218"	"0"	"c.3217_3218delinsA"	"r.(?)"	"p.(Leu1073Argfs*203)"	""	"delins"	"frameshift"
"0000734676"	"00024134"	"90"	"3397"	"0"	"3397"	"0"	"c.3397C>T"	"r.(?)"	"p.(Arg1133*)"	""	"substitution"	"nonsense"
"0000734678"	"00024134"	"90"	"3572"	"0"	"3572"	"0"	"c.3572dup"	"r.(?)"	"p.(Gly1192Argfs*6)"	""	""	""
"0000734679"	"00024134"	"90"	"3613"	"0"	"3613"	"0"	"c.3613C>T"	"r.(?)"	"p.(Gln1205*)"	""	"substitution"	"nonsense"
"0000734681"	"00024134"	"90"	"3691"	"-2"	"3691"	"-2"	"c.3691-2A>G"	"r.spl?"	"p.?"	""	""	"splicing affected"
"0000734682"	"00024134"	"90"	"3865"	"0"	"3865"	"0"	"c.3865G>T"	"r.(?)"	"p.(Glu1289*)"	""	"substitution"	"nonsense"
"0000734683"	"00024134"	"90"	"3865"	"0"	"3865"	"0"	"c.3865G>T"	"r.(?)"	"p.(Glu1289*)"	""	"substitution"	"nonsense"
"0000734716"	"00024134"	"90"	"4014"	"1"	"4014"	"1"	"c.4014+1G>A"	"r.spl?"	"p.?"	""	""	"splicing affected"
"0000734717"	"00024134"	"90"	"4050"	"0"	"4050"	"0"	"c.4050dup"	"r.(?)"	"p.(Gly1351Argfs*14)"	""	"duplication"	"frameshift"
"0000734718"	"00024134"	"90"	"4050"	"0"	"4050"	"0"	"c.4050dup"	"r.(?)"	"p.(Gly1351Argfs*14)"	""	""	""
"0000734719"	"00024134"	"90"	"4050"	"0"	"4050"	"0"	"c.4050dup"	"r.(?)"	"p.(Gly1351Argfs*14)"	""	"duplication"	"frameshift"
"0000734720"	"00024134"	"90"	"4050"	"0"	"4050"	"0"	"c.4050dup"	"r.(?)"	"p.(Gly1351Argfs*14)"	""	"duplication"	"frameshift"
"0000734721"	"00024134"	"90"	"4068"	"0"	"4068"	"0"	"c.4068G>A"	"r.(=)"	"p.(Gly1339_Ala1356del)"	""	"substitution"	"splicing affected, exon skipped"
"0000734946"	"00024134"	"90"	"4178"	"0"	"4178"	"0"	"c.4178G>A"	"r.(?)"	"p.(Gly1393Asp)"	""	"substitution"	"missense"
"0000734947"	"00024134"	"90"	"4345"	"0"	"4345"	"0"	"c.4345C>T"	"r.(?)"	"p.(Gln1449*)"	""	"substitution"	"nonsense"
"0000734949"	"00024134"	"90"	"4430"	"0"	"4430"	"0"	"c.4430G>A"	"r.(?)"	"p.(Gly1477Asp)"	""	"substitution"	"missense"
"0000734950"	"00024134"	"90"	"4465"	"0"	"4465"	"0"	"c.4465G>A"	"r.(?)"	"p.(Gly1489Arg)"	""	"substitution"	"missense"
"0000734951"	"00024134"	"90"	"4465"	"0"	"4465"	"0"	"c.4465G>A"	"r.(?)"	"p.(Gly1489Arg)"	""	"substitution"	"missense"
"0000734952"	"00024134"	"90"	"4465"	"0"	"4465"	"0"	"c.4465G>A"	"r.(?)"	"p.(Gly1489Arg)"	""	"substitution"	"missense"
"0000734953"	"00024134"	"90"	"4474"	"0"	"4474"	"0"	"c.4474G>A"	"r.(?)"	"p.(Gly1492Ser)"	""	""	""
"0000734954"	"00024134"	"90"	"4609"	"-2"	"4615"	"0"	"c.4609-2_4615delinsCCTCCTCTCT"	"r.spl"	"p.?"	""	""	"delins"
"0000734956"	"00024134"	"90"	"4683"	"0"	"4691"	"0"	"c.4683_4691del"	"r.(?)"	"p.(Pro1568_Gly1570del)"	""	"deletion"	"deletion"
"0000734957"	"00024134"	"90"	"4699"	"-1"	"4699"	"-1"	"c.4699-1G>A"	"r.spl?"	"p.?"	""	""	"splicing affected"
"0000734958"	"00024134"	"90"	"4805"	"0"	"4813"	"0"	"c.4805_4813dup"	"r.(?)"	"p.(Val1602_Tyr1604dup)"	""	"duplication"	"duplication"
"0000734960"	"00024134"	"90"	"5185"	"0"	"5185"	"0"	"c.5185del"	"r.(?)"	"p.(Thr1729Profs*6)"	""	"deletion"	"frameshift"
"0000734961"	"00024134"	"90"	"5422"	"0"	"5422"	"0"	"c.5422dup"	"r.(?)"	"p.(Glu1808Glyfs*12)"	""	"duplication"	"frameshift"
"0000764871"	"00024134"	"70"	"2175"	"0"	"2175"	"0"	"c.2175T>G"	"r.(?)"	"p.(Asn725Lys)"	""	"substitution"	"missense"
"0000764872"	"00024134"	"70"	"4048"	"0"	"4048"	"0"	"c.4048C>G"	"r.(?)"	"p.(Pro1350Ala)"	""	"substitution"	"missense"
"0000764873"	"00024134"	"70"	"2952"	"4"	"2952"	"4"	"c.2952+4A>G"	"r.spl?"	"p.?"	""	""	"splicing affected?"
"0000764874"	"00024134"	"70"	"3370"	"0"	"3370"	"0"	"c.3370G>A"	"r.(?)"	"p.(Glu1124Lys)"	""	"substitution"	"missense"
"0000764875"	"00024134"	"70"	"4339"	"-3"	"4339"	"-3"	"c.4339-3C>G"	"r.spl?"	"p.?"	""	""	"splicing affected?"
"0000788007"	"00024134"	"50"	"28"	"0"	"28"	"0"	"c.28C>T"	"r.(?)"	"p.(Arg10Cys)"	""	""	""
"0000803945"	"00024134"	"30"	"194"	"0"	"194"	"0"	"c.194G>A"	"r.(?)"	"p.(Arg65Gln)"	""	""	""
"0000803945"	"00025528"	"30"	"194"	"0"	"194"	"0"	"c.194G>A"	"r.(?)"	"p.(Arg65Gln)"	""	""	""
"0000803946"	"00024134"	"30"	"514"	"0"	"514"	"0"	"c.514G>T"	"r.(?)"	"p.(Val172Phe)"	""	""	""
"0000803946"	"00025528"	"30"	"514"	"0"	"514"	"0"	"c.514G>T"	"r.(?)"	"p.(Val172Phe)"	""	""	""
"0000803947"	"00024134"	"30"	"1818"	"0"	"1818"	"0"	"c.1818C>T"	"r.(?)"	"p.(Pro606=)"	""	""	""
"0000803947"	"00025528"	"30"	"1818"	"0"	"1818"	"0"	"c.1818C>T"	"r.(?)"	"p.(Pro606=)"	""	""	""
"0000803948"	"00024134"	"30"	"2096"	"0"	"2096"	"0"	"c.2096C>T"	"r.(?)"	"p.(Thr699Met)"	""	""	""
"0000803948"	"00025528"	"30"	"2096"	"0"	"2096"	"0"	"c.2096C>T"	"r.(?)"	"p.(Thr699Met)"	""	""	""
"0000803949"	"00024134"	"30"	"2484"	"6"	"2484"	"6"	"c.2484+6C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000803949"	"00025528"	"30"	"2484"	"6"	"2484"	"6"	"c.2484+6C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000803950"	"00024134"	"30"	"2484"	"6"	"2484"	"6"	"c.2484+6C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000803950"	"00025528"	"30"	"2484"	"6"	"2484"	"6"	"c.2484+6C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000803951"	"00024134"	"50"	"2527"	"0"	"2527"	"0"	"c.2527G>C"	"r.(?)"	"p.(Glu843Gln)"	""	""	""
"0000803951"	"00025528"	"50"	"2527"	"0"	"2527"	"0"	"c.2527G>C"	"r.(?)"	"p.(Glu843Gln)"	""	""	""
"0000803952"	"00024134"	"30"	"3205"	"-18"	"3205"	"-18"	"c.3205-18C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000803952"	"00025528"	"30"	"3205"	"-18"	"3205"	"-18"	"c.3205-18C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000803953"	"00024134"	"90"	"3238"	"0"	"3239"	"0"	"c.3238_3239dup"	"r.(?)"	"p.(Gly1081Leufs*196)"	""	""	""
"0000803953"	"00025528"	"90"	"3238"	"0"	"3239"	"0"	"c.3238_3239dup"	"r.(?)"	"p.(Gly1081Leufs*196)"	""	""	""
"0000803954"	"00024134"	"90"	"3762"	"0"	"3762"	"0"	"c.3762del"	"r.(?)"	"p.(Gly1255Alafs*21)"	""	""	""
"0000803954"	"00025528"	"90"	"3762"	"0"	"3762"	"0"	"c.3762del"	"r.(?)"	"p.(Gly1255Alafs*21)"	""	""	""
"0000803955"	"00024134"	"30"	"3906"	"20"	"3906"	"20"	"c.3906+20G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000803955"	"00025528"	"30"	"3906"	"20"	"3906"	"20"	"c.3906+20G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000803956"	"00024134"	"30"	"3987"	"0"	"3987"	"0"	"c.3987C>G"	"r.(?)"	"p.(Pro1329=)"	""	""	""
"0000803956"	"00025528"	"30"	"3987"	"0"	"3987"	"0"	"c.3987C>G"	"r.(?)"	"p.(Pro1329=)"	""	""	""
"0000803957"	"00024134"	"30"	"4044"	"0"	"4044"	"0"	"c.4044C>T"	"r.(?)"	"p.(Gly1348=)"	""	""	""
"0000803957"	"00025528"	"30"	"4044"	"0"	"4044"	"0"	"c.4044C>T"	"r.(?)"	"p.(Gly1348=)"	""	""	""
"0000803958"	"00024134"	"30"	"4069"	"-16"	"4069"	"-16"	"c.4069-16G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000803958"	"00025528"	"30"	"4069"	"-16"	"4069"	"-16"	"c.4069-16G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000803959"	"00024134"	"30"	"4393"	"-19"	"4393"	"-19"	"c.4393-19C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000803959"	"00025528"	"30"	"4393"	"-19"	"4393"	"-19"	"c.4393-19C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000803960"	"00024134"	"90"	"4483"	"0"	"4483"	"0"	"c.4483G>A"	"r.(?)"	"p.(Gly1495Ser)"	""	""	""
"0000803960"	"00025528"	"90"	"4483"	"0"	"4483"	"0"	"c.4483G>A"	"r.(?)"	"p.(Gly1495Ser)"	""	""	""
"0000803961"	"00024134"	"30"	"4554"	"4"	"4554"	"4"	"c.4554+4C>T"	"r.spl?"	"p.?"	""	""	""
"0000803961"	"00025528"	"30"	"4554"	"4"	"4554"	"4"	"c.4554+4C>T"	"r.spl?"	"p.?"	""	""	""
"0000803962"	"00024134"	"30"	"4692"	"0"	"4692"	"0"	"c.4692C>A"	"r.(?)"	"p.(Gly1564=)"	""	""	""
"0000803962"	"00025528"	"30"	"4692"	"0"	"4692"	"0"	"c.4692C>A"	"r.(?)"	"p.(Gly1564=)"	""	""	""
"0000803963"	"00024134"	"30"	"4707"	"0"	"4707"	"0"	"c.4707G>A"	"r.(?)"	"p.(Pro1569=)"	""	""	""
"0000803963"	"00025528"	"30"	"4707"	"0"	"4707"	"0"	"c.4707G>A"	"r.(?)"	"p.(Pro1569=)"	""	""	""
"0000803964"	"00024134"	"30"	"5041"	"0"	"5041"	"0"	"c.5041G>A"	"r.(?)"	"p.(Val1681Ile)"	""	""	""
"0000803964"	"00025528"	"30"	"5041"	"0"	"5041"	"0"	"c.5041G>A"	"r.(?)"	"p.(Val1681Ile)"	""	""	""
"0000814510"	"00024134"	"70"	"1369"	"0"	"1369"	"0"	"c.1369G>T"	"r.(?)"	"p.(Glu457*)"	"9"	"substitution"	"nonsense"
"0000814510"	"00025528"	"70"	"1369"	"0"	"1369"	"0"	"c.1369G>T"	"r.(?)"	"p.(Glu457*)"	""	""	""
"0000818602"	"00024134"	"50"	"1372"	"0"	"1372"	"0"	"c.1372C>T"	"r.(?)"	"p.(Pro458Ser)"	""	""	""
"0000818602"	"00025528"	"50"	"1372"	"0"	"1372"	"0"	"c.1372C>T"	"r.(?)"	"p.(Pro458Ser)"	""	""	""
"0000839630"	"00024134"	"90"	"1989"	"1"	"1989"	"1"	"c.1989+1G>T"	"r.spl"	"p.?"	""	""	"splicing affected"
"0000839631"	"00024134"	"99"	"1273"	"0"	"1276"	"0"	"c.1273_1276dup"	"r.(?)"	"p.(Ser426*)"	""	"duplication"	"frameshift"
"0000839632"	"00024134"	"90"	"5021"	"0"	"5021"	"0"	"c.5021del"	"r.(?)"	"p.(Thr1674Lysfs*55)"	""	""	"frameshift"
"0000839633"	"00024134"	"90"	"4050"	"0"	"4050"	"0"	"c.4050dup"	"r.(?)"	"p.(Gly1351Argfs*14)"	""	""	"frameshift"
"0000839634"	"00024134"	"30"	"1726"	"0"	"1726"	"0"	"c.1726C>T"	"r.(?)"	"p.(Pro576Ser)"	""	""	"missense"
"0000839635"	"00024134"	"30"	"3023"	"0"	"3023"	"0"	"c.3023C>T"	"r.(?)"	"p.(Thr1008Met)"	""	""	"missense"
"0000839636"	"00024134"	"30"	"3398"	"0"	"3398"	"0"	"c.3398G>A"	"r.(?)"	"p.(Arg1133Gln)"	""	""	"missense"
"0000842408"	"00024134"	"70"	"110"	"-1"	"5370"	"1"	"c.(109+1_110-1)_(5370+1_?)del"	"r.?"	"p.0?"	"1i_65i_"	"deletion, large"	"deletion, multi exon"
"0000842410"	"00024134"	"50"	"110"	"-1"	"5370"	"1"	"c.(109+1_110-1)_(5370+1_?)del"	"r.?"	"p.0?"	"1i_65i_"	"deletion, large"	"deletion, multi exon"
"0000852166"	"00024134"	"50"	"658"	"0"	"658"	"0"	"c.658G>A"	"r.(?)"	"p.(Asp220Asn)"	""	""	""
"0000852166"	"00025528"	"50"	"658"	"0"	"658"	"0"	"c.658G>A"	"r.(?)"	"p.(Asp220Asn)"	""	""	""
"0000852167"	"00024134"	"30"	"1432"	"-8"	"1432"	"-8"	"c.1432-8A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000852167"	"00025528"	"30"	"1432"	"-8"	"1432"	"-8"	"c.1432-8A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000852168"	"00024134"	"50"	"2818"	"0"	"2818"	"0"	"c.2818G>A"	"r.(?)"	"p.(Gly940Ser)"	""	""	""
"0000852168"	"00025528"	"50"	"2818"	"0"	"2818"	"0"	"c.2818G>A"	"r.(?)"	"p.(Gly940Ser)"	""	""	""
"0000852169"	"00024134"	"50"	"5171"	"0"	"5171"	"0"	"c.5171G>C"	"r.(?)"	"p.(Gly1724Ala)"	""	""	""
"0000852169"	"00025528"	"50"	"5171"	"0"	"5171"	"0"	"c.5171G>C"	"r.(?)"	"p.(Gly1724Ala)"	""	""	""
"0000861548"	"00024134"	"10"	"378"	"0"	"378"	"0"	"c.378G>T"	"r.(?)"	"p.(Gln126His)"	""	""	""
"0000861548"	"00025528"	"10"	"378"	"0"	"378"	"0"	"c.378G>T"	"r.(?)"	"p.(Gln126His)"	""	""	""
"0000861549"	"00024134"	"10"	"574"	"0"	"574"	"0"	"c.574G>A"	"r.(?)"	"p.(Asp192Asn)"	""	""	""
"0000861549"	"00025528"	"10"	"574"	"0"	"574"	"0"	"c.574G>A"	"r.(?)"	"p.(Asp192Asn)"	""	""	""
"0000861550"	"00024134"	"30"	"660"	"0"	"660"	"0"	"c.660C>T"	"r.(?)"	"p.(Asp220=)"	""	""	""
"0000861550"	"00025528"	"30"	"660"	"0"	"660"	"0"	"c.660C>T"	"r.(?)"	"p.(Asp220=)"	""	""	""
"0000861551"	"00024134"	"90"	"1502"	"0"	"1502"	"0"	"c.1502dup"	"r.(?)"	"p.(Gly502Trpfs*114)"	""	""	""
"0000861551"	"00025528"	"90"	"1502"	"0"	"1502"	"0"	"c.1502dup"	"r.(?)"	"p.(Gly502Trpfs*114)"	""	""	""
"0000861552"	"00024134"	"30"	"1527"	"0"	"1527"	"0"	"c.1527C>T"	"r.(?)"	"p.(Ala509=)"	""	""	""
"0000861552"	"00025528"	"30"	"1527"	"0"	"1527"	"0"	"c.1527C>T"	"r.(?)"	"p.(Ala509=)"	""	""	""
"0000861553"	"00024134"	"30"	"2031"	"0"	"2031"	"0"	"c.2031G>A"	"r.(?)"	"p.(Glu677=)"	""	""	""
"0000861553"	"00025528"	"30"	"2031"	"0"	"2031"	"0"	"c.2031G>A"	"r.(?)"	"p.(Glu677=)"	""	""	""
"0000861554"	"00024134"	"50"	"3292"	"0"	"3292"	"0"	"c.3292G>A"	"r.(?)"	"p.(Ala1098Thr)"	""	""	""
"0000861554"	"00025528"	"50"	"3292"	"0"	"3292"	"0"	"c.3292G>A"	"r.(?)"	"p.(Ala1098Thr)"	""	""	""
"0000861555"	"00024134"	"30"	"3745"	"-17"	"3745"	"-17"	"c.3745-17T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000861555"	"00025528"	"30"	"3745"	"-17"	"3745"	"-17"	"c.3745-17T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000861556"	"00024134"	"30"	"3987"	"0"	"3987"	"0"	"c.3987C>T"	"r.(?)"	"p.(Pro1329=)"	""	""	""
"0000861556"	"00025528"	"30"	"3987"	"0"	"3987"	"0"	"c.3987C>T"	"r.(?)"	"p.(Pro1329=)"	""	""	""
"0000861557"	"00024134"	"30"	"4344"	"0"	"4344"	"0"	"c.4344A>G"	"r.(?)"	"p.(Glu1448=)"	""	""	""
"0000861557"	"00025528"	"30"	"4344"	"0"	"4344"	"0"	"c.4344A>G"	"r.(?)"	"p.(Glu1448=)"	""	""	""
"0000869728"	"00024134"	"70"	"4609"	"-2"	"4609"	"-2"	"c.4609-2A>C"	"r.spl?"	"p.?"	""	"substitution"	"missense"
"0000869728"	"00025528"	"70"	"4609"	"-2"	"4609"	"-2"	"c.4609-2A>C"	"r.spl?"	"p.?"	""	"substitution"	"missense"
"0000878060"	"00024134"	"90"	"3184"	"0"	"3184"	"0"	"c.3184C>T"	"r.(?)"	"p.(Arg1062Ter)"	"40"	""	""
"0000878066"	"00024134"	"90"	"4812"	"0"	"4812"	"0"	"c.4812C>G"	"r.(?)"	"p.(Tyr1604Ter)"	"62"	""	""
"0000878076"	"00024134"	"50"	"1904"	"0"	"1904"	"0"	"c.1904T>C"	"r.(?)"	"p.(Leu635Pro)"	"18"	""	""
"0000878077"	"00024134"	"90"	"2140"	"0"	"2140"	"0"	"c.2140C>T"	"r.(?)"	"p.(Gln714Ter)"	"23"	""	""
"0000878083"	"00024134"	"70"	"4338"	"2"	"4338"	"2"	"c.4338+2T>C"	"r.spl"	"p.?"	"55i"	""	""
"0000878084"	"00024134"	"90"	"228"	"0"	"229"	"0"	"c.228_229del"	"r.(?)"	"p.(Arg76SerfsTer108)"	"2"	""	""
"0000878086"	"00024134"	"50"	"5291"	"0"	"5291"	"0"	"c.5291T>A"	"r.(?)"	"p.(Leu1764His)"	"65"	""	""
"0000878088"	"00024134"	"90"	"1369"	"0"	"1369"	"0"	"c.1369G>T"	"r.(?)"	"p.(Glu457Ter)"	"9"	""	""
"0000878090"	"00024134"	"90"	"491"	"1"	"491"	"1"	"c.491+1G>T"	"r.spl"	"p.?"	"3i"	""	""
"0000878091"	"00024134"	"50"	"5268"	"0"	"5277"	"0"	"c.5268_5277del"	"r.(?)"	"p.(Gly1758ThrfsTer106)"	"65"	""	""
"0000878096"	"00024134"	"50"	"155"	"0"	"155"	"0"	"c.155C>G"	"r.(?)"	"p.(Pro52Arg)"	"2"	""	""
"0000878102"	"00024134"	"50"	"5002"	"0"	"5002"	"0"	"c.5002A>G"	"r.(?)"	"p.(Lys1668Glu)"	"63"	""	""
"0000878104"	"00024134"	"70"	"4318"	"0"	"4318"	"0"	"c.4318C>T"	"r.(?)"	"p.(Arg1440Ter)"	"55"	""	""
"0000878108"	"00024134"	"90"	"4645"	"-1"	"4645"	"-1"	"c.4645-1G>A"	"r.spl"	"p.?"	"61i"	""	""
"0000878109"	"00024134"	"50"	"5339"	"0"	"5339"	"0"	"c.5339C>A"	"r.(?)"	"p.(Pro1780His)"	"65"	""	""
"0000878114"	"00024134"	"50"	"2542"	"0"	"2542"	"0"	"c.2542C>T"	"r.(?)"	"p.(Arg848Cys)"	"30"	""	""
"0000878131"	"00024134"	"90"	"3752"	"0"	"3752"	"0"	"c.3752dup"	"r.(?)"	"p.(Pro1253SerfsTer14)"	"48"	""	""
"0000878138"	"00024134"	"50"	"4190"	"0"	"4190"	"0"	"c.4190C>T"	"r.(?)"	"p.(Pro1397Leu)"	"54"	""	""
"0000878153"	"00024134"	"90"	"4538"	"0"	"4538"	"0"	"c.4538del"	"r.(?)"	"p.(Gly1513ValfsTer106)"	"58"	""	""
"0000878154"	"00024134"	"90"	"2923"	"0"	"2935"	"0"	"c.2923_2935delinsT"	"r.(?)"	"p.(Pro975Ter)"	"37"	""	""
"0000878156"	"00024134"	"50"	"4181"	"0"	"4181"	"0"	"c.4181C>T"	"r.(?)"	"p.(Pro1394Leu)"	"54"	""	""
"0000878163"	"00024134"	"50"	"2176"	"0"	"2176"	"0"	"c.2176C>G"	"r.(?)"	"p.(Pro726Ala)"	"23"	""	""
"0000878174"	"00024134"	"90"	"5031"	"0"	"5031"	"0"	"c.5031dup"	"r.(?)"	"p.(Ser1678ValfsTer7)"	"63"	""	""
"0000878176"	"00024134"	"70"	"1432"	"0"	"1432"	"0"	"c.1432G>A"	"r.(?)"	"p.(Gly478Ser)"	"11"	""	""
"0000878180"	"00024134"	"50"	"2745"	"0"	"2745"	"0"	"c.2745G>C"	"r.spl?"	"p.(Thr915=)"	"33"	""	""
"0000878181"	"00024134"	"90"	"564"	"0"	"564"	"0"	"c.564del"	"r.(?)"	"p.(Lys189AsnfsTer10)"	"4"	""	""
"0000878192"	"00024134"	"50"	"668"	"0"	"668"	"0"	"c.668A>C"	"r.(?)"	"p.(Gln223Pro)"	"5"	""	""
"0000878194"	"00024134"	"90"	"4688"	"0"	"4688"	"0"	"c.4688del"	"r.(?)"	"p.(Pro1563GlnfsTer56)"	"61"	""	""
"0000878202"	"00024134"	"50"	"5393"	"0"	"5393"	"0"	"c.5393C>T"	"r.(?)"	"p.(Thr1798Met)"	"66"	""	""
"0000881164"	"00024134"	"90"	"3752"	"0"	"3752"	"0"	"c.3752dup"	"r.(?)"	"p.(Pro1253SerfsTer14)"	""	""	""
"0000888703"	"00024134"	"50"	"145"	"0"	"145"	"0"	"c.145C>T"	"r.(?)"	"p.(His49Tyr)"	""	""	""
"0000888703"	"00025528"	"50"	"145"	"0"	"145"	"0"	"c.145C>T"	"r.(?)"	"p.(His49Tyr)"	""	""	""
"0000888704"	"00024134"	"90"	"1165"	"-2"	"1165"	"-2"	"c.1165-2A>G"	"r.spl?"	"p.?"	""	""	""
"0000888704"	"00025528"	"90"	"1165"	"-2"	"1165"	"-2"	"c.1165-2A>G"	"r.spl?"	"p.?"	""	""	""
"0000888705"	"00024134"	"30"	"1281"	"0"	"1281"	"0"	"c.1281G>A"	"r.(?)"	"p.(Pro427=)"	""	""	""
"0000888705"	"00025528"	"30"	"1281"	"0"	"1281"	"0"	"c.1281G>A"	"r.(?)"	"p.(Pro427=)"	""	""	""
"0000888706"	"00024134"	"10"	"1333"	"-8"	"1333"	"-8"	"c.1333-8A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000888706"	"00025528"	"10"	"1333"	"-8"	"1333"	"-8"	"c.1333-8A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000888707"	"00024134"	"50"	"1507"	"0"	"1507"	"0"	"c.1507C>T"	"r.(?)"	"p.(Arg503Cys)"	""	""	""
"0000888707"	"00025528"	"50"	"1507"	"0"	"1507"	"0"	"c.1507C>T"	"r.(?)"	"p.(Arg503Cys)"	""	""	""
"0000888708"	"00024134"	"50"	"3041"	"0"	"3041"	"0"	"c.3041G>A"	"r.(?)"	"p.(Arg1014His)"	""	""	""
"0000888708"	"00025528"	"50"	"3041"	"0"	"3041"	"0"	"c.3041G>A"	"r.(?)"	"p.(Arg1014His)"	""	""	""
"0000888709"	"00024134"	"30"	"3258"	"7"	"3258"	"7"	"c.3258+7C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000888709"	"00025528"	"30"	"3258"	"7"	"3258"	"7"	"c.3258+7C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000888710"	"00024134"	"90"	"3397"	"0"	"3397"	"0"	"c.3397C>T"	"r.(?)"	"p.(Arg1133*)"	""	""	""
"0000888710"	"00025528"	"90"	"3397"	"0"	"3397"	"0"	"c.3397C>T"	"r.(?)"	"p.(Arg1133*)"	""	""	""
"0000888711"	"00024134"	"30"	"3591"	"0"	"3591"	"0"	"c.3591C>T"	"r.(?)"	"p.(Asp1197=)"	""	""	""
"0000888711"	"00025528"	"30"	"3591"	"0"	"3591"	"0"	"c.3591C>T"	"r.(?)"	"p.(Asp1197=)"	""	""	""
"0000888712"	"00024134"	"90"	"3755"	"0"	"3755"	"0"	"c.3755del"	"r.(?)"	"p.(Gly1252Valfs*24)"	""	""	""
"0000888712"	"00025528"	"90"	"3755"	"0"	"3755"	"0"	"c.3755del"	"r.(?)"	"p.(Gly1252Valfs*24)"	""	""	""
"0000888713"	"00024134"	"90"	"4044"	"0"	"4045"	"0"	"c.4044_4045insT"	"r.(?)"	"p.(Pro1349Serfs*16)"	""	""	""
"0000888713"	"00025528"	"90"	"4044"	"0"	"4045"	"0"	"c.4044_4045insT"	"r.(?)"	"p.(Pro1349Serfs*16)"	""	""	""
"0000888714"	"00024134"	"90"	"4050"	"0"	"4050"	"0"	"c.4050del"	"r.(?)"	"p.(Gly1351Glufs*137)"	""	""	""
"0000888714"	"00025528"	"90"	"4050"	"0"	"4050"	"0"	"c.4050del"	"r.(?)"	"p.(Gly1351Glufs*137)"	""	""	""
"0000888715"	"00024134"	"30"	"4231"	"-45"	"4231"	"-45"	"c.4231-45G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000888715"	"00025528"	"30"	"4231"	"-45"	"4231"	"-45"	"c.4231-45G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000888716"	"00024134"	"30"	"4339"	"-16"	"4339"	"-16"	"c.4339-16C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000888716"	"00025528"	"30"	"4339"	"-16"	"4339"	"-16"	"c.4339-16C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000888717"	"00024134"	"30"	"4536"	"0"	"4536"	"0"	"c.4536C>T"	"r.(?)"	"p.(Ser1512=)"	""	""	""
"0000888717"	"00025528"	"30"	"4536"	"0"	"4536"	"0"	"c.4536C>T"	"r.(?)"	"p.(Ser1512=)"	""	""	""
"0000888718"	"00024134"	"30"	"4968"	"0"	"4968"	"0"	"c.4968C>T"	"r.(?)"	"p.(Val1656=)"	""	""	""
"0000888718"	"00025528"	"30"	"4968"	"0"	"4968"	"0"	"c.4968C>T"	"r.(?)"	"p.(Val1656=)"	""	""	""
"0000902930"	"00024134"	"70"	"305"	"0"	"305"	"0"	"c.305T>A"	"r.(?)"	"p.(Ile102Asn)"	"3"	"substitution"	"missense"
"0000903139"	"00024134"	"75"	"305"	"0"	"305"	"0"	"c.305T>A"	"r.(?)"	"p.(Ile102Asn)"	"3"	"substitution"	"missense"
"0000903139"	"00025528"	"77"	"305"	"0"	"305"	"0"	"c.305T>A"	"r.(?)"	"p.(Ile102Asn)"	"3"	""	""
"0000905246"	"00024134"	"77"	"1164"	"1"	"1164"	"1"	"c.1164+1G>A"	"r.spl"	"p.?"	""	"substitution"	"splicing affected"
"0000909266"	"00024134"	"79"	"1502"	"0"	"1502"	"0"	"c.1502dup"	"r.?"	"p.Gly502Trpfs*114"	""	"duplication, small"	"frameshift"
"0000913107"	"00024134"	"90"	"1676"	"0"	"1694"	"0"	"c.1676_1694del"	"r.(?)"	"p.(Gly559Valfs*17)"	""	""	""
"0000913107"	"00025528"	"90"	"1676"	"0"	"1694"	"0"	"c.1676_1694del"	"r.(?)"	"p.(Gly559Valfs*17)"	""	""	""
"0000913108"	"00024134"	"30"	"2331"	"16"	"2331"	"16"	"c.2331+16G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000913108"	"00025528"	"30"	"2331"	"16"	"2331"	"16"	"c.2331+16G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000913109"	"00024134"	"30"	"2745"	"13"	"2745"	"13"	"c.2745+13T>G"	"r.(=)"	"p.(=)"	""	""	""
"0000913109"	"00025528"	"30"	"2745"	"13"	"2745"	"13"	"c.2745+13T>G"	"r.(=)"	"p.(=)"	""	""	""
"0000913110"	"00024134"	"10"	"2800"	"-18"	"2800"	"-18"	"c.2800-18C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000913110"	"00025528"	"10"	"2800"	"-18"	"2800"	"-18"	"c.2800-18C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000913111"	"00024134"	"30"	"4692"	"0"	"4692"	"0"	"c.4692C>T"	"r.(?)"	"p.(Gly1564=)"	""	""	""
"0000913111"	"00025528"	"30"	"4692"	"0"	"4692"	"0"	"c.4692C>T"	"r.(?)"	"p.(Gly1564=)"	""	""	""
"0000913112"	"00024134"	"90"	"4706"	"0"	"4706"	"0"	"c.4706dup"	"r.(?)"	"p.(Glu1571Argfs*53)"	""	""	""
"0000913112"	"00025528"	"90"	"4706"	"0"	"4706"	"0"	"c.4706dup"	"r.(?)"	"p.(Glu1571Argfs*53)"	""	""	""
"0000913113"	"00024134"	"30"	"4782"	"0"	"4782"	"0"	"c.4782C>T"	"r.(?)"	"p.(Asp1594=)"	""	""	""
"0000913113"	"00025528"	"30"	"4782"	"0"	"4782"	"0"	"c.4782C>T"	"r.(?)"	"p.(Asp1594=)"	""	""	""
"0000913114"	"00024134"	"10"	"4788"	"0"	"4788"	"0"	"c.4788G>C"	"r.(?)"	"p.(Gly1596=)"	""	""	""
"0000913114"	"00025528"	"10"	"4788"	"0"	"4788"	"0"	"c.4788G>C"	"r.(?)"	"p.(Gly1596=)"	""	""	""
"0000913115"	"00024134"	"30"	"4954"	"17"	"4954"	"17"	"c.4954+17del"	"r.(=)"	"p.(=)"	""	""	""
"0000913115"	"00025528"	"30"	"4954"	"17"	"4954"	"17"	"c.4954+17del"	"r.(=)"	"p.(=)"	""	""	""
"0000913116"	"00024134"	"50"	"5206"	"0"	"5206"	"0"	"c.5206G>A"	"r.(?)"	"p.(Ala1736Thr)"	""	""	""
"0000913116"	"00025528"	"50"	"5206"	"0"	"5206"	"0"	"c.5206G>A"	"r.(?)"	"p.(Ala1736Thr)"	""	""	""
"0000918086"	"00024134"	"70"	"4211"	"0"	"4212"	"0"	"c.4211_4212del"	"r.(?)"	"p.(Gln1404Argfs*77)"	"54"	"deletion"	"frameshift"
"0000918086"	"00025528"	"70"	"4211"	"0"	"4212"	"0"	"c.4211_4212del"	"r.(?)"	"p.(Gln1404Argfs*77)"	"54"	"deletion"	"frameshift"
"0000918222"	"00024134"	"50"	"4640"	"0"	"4640"	"0"	"c.4640C>T"	"r.(?)"	"p.(Ser1547Phe)"	""	""	""
"0000918866"	"00024134"	"90"	"4288"	"0"	"4288"	"0"	"c.4288del"	"r.(?)"	"p.(Ala1430ProfsTer58)"	"55"	""	""
"0000918867"	"00024134"	"50"	"1332"	"1"	"1332"	"1"	"c.1332+1G>A"	"r.spl"	"p.?"	"8i"	""	""
"0000918869"	"00024134"	"50"	"1970"	"0"	"1970"	"0"	"c.1970C>G"	"r.(?)"	"p.(Pro657Arg)"	"19"	""	""
"0000918873"	"00024134"	"70"	"4114"	"0"	"4114"	"0"	"c.4114G>A"	"r.(?)"	"p.(Gly1372Arg)"	"52"	""	""
"0000918879"	"00024134"	"50"	"443"	"0"	"443"	"0"	"c.443G>A"	"r.(?)"	"p.(Gly148Asp)"	"3"	""	""
"0000918891"	"00024134"	"50"	"1637"	"0"	"1637"	"0"	"c.1637C>T"	"r.(?)"	"p.(Ala546Val)"	"13"	""	""
"0000918895"	"00024134"	"50"	"2555"	"0"	"2555"	"0"	"c.2555A>C"	"r.(?)"	"p.(Asn852Thr)"	"30"	""	""
"0000920730"	"00024134"	"90"	"109"	"9869"	"1495"	"-4835"	"c.(?_109+9869)_(1495-4835_?)del"	"r.?"	"p.?"	"1i_11i"	""	""
"0000920730"	"00025528"	"90"	"109"	"9869"	"1495"	"-4835"	"c.(?_109+9869)_(1495-4835_?)del"	"r.?"	"p.?"	"1i_11i"	""	""
"0000920731"	"00024134"	"50"	"0"	"0"	"0"	"0"	"c.(1494+1_1495-3373)_*2540{2}"	"r.?"	"p.?"	"11i_66_"	""	""
"0000920731"	"00025528"	"50"	"0"	"0"	"0"	"0"	"c.(1494+1_1495-3373)_*2540{2}"	"r.?"	"p.?"	""	""	""
"0000922738"	"00024134"	"51"	"2745"	"66"	"2745"	"66"	"c.2745+66G>A"	"r.(=)"	"p.(=)"	"33i"	"substitution"	"silent"
"0000922739"	"00024134"	"51"	"2701"	"-22"	"2701"	"-22"	"c.2701-22C>T"	"r.(=)"	"p.(=)"	""	"substitution"	"silent"
"0000922741"	"00024134"	"11"	"2845"	"-70"	"2845"	"-70"	"c.2845-70A>G"	"r.(?)"	"p.(=)"	""	"substitution"	"silent"
"0000924994"	"00024134"	"30"	"573"	"0"	"573"	"0"	"c.573C>T"	"r.(?)"	"p.(Leu191=)"	""	""	""
"0000924994"	"00025528"	"30"	"573"	"0"	"573"	"0"	"c.573C>T"	"r.(?)"	"p.(Leu191=)"	""	""	""
"0000924995"	"00024134"	"10"	"573"	"0"	"573"	"0"	"c.573C>T"	"r.(?)"	"p.(Leu191=)"	""	""	""
"0000924995"	"00025528"	"10"	"573"	"0"	"573"	"0"	"c.573C>T"	"r.(?)"	"p.(Leu191=)"	""	""	""
"0000924996"	"00024134"	"30"	"924"	"14"	"924"	"14"	"c.924+14G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000924996"	"00025528"	"30"	"924"	"14"	"924"	"14"	"c.924+14G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000924997"	"00024134"	"50"	"1595"	"0"	"1595"	"0"	"c.1595C>T"	"r.(?)"	"p.(Ala532Val)"	""	""	""
"0000924997"	"00025528"	"50"	"1595"	"0"	"1595"	"0"	"c.1595C>T"	"r.(?)"	"p.(Ala532Val)"	""	""	""
"0000924998"	"00024134"	"30"	"1719"	"168"	"1719"	"168"	"c.1719+168G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000924998"	"00025528"	"30"	"1719"	"168"	"1719"	"168"	"c.1719+168G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000924999"	"00024134"	"50"	"1726"	"0"	"1726"	"0"	"c.1726C>T"	"r.(?)"	"p.(Pro576Ser)"	""	""	""
"0000924999"	"00025528"	"50"	"1726"	"0"	"1726"	"0"	"c.1726C>T"	"r.(?)"	"p.(Pro576Ser)"	""	""	""
"0000925000"	"00024134"	"30"	"1920"	"0"	"1920"	"0"	"c.1920C>A"	"r.(?)"	"p.(Gly640=)"	""	""	""
"0000925000"	"00025528"	"30"	"1920"	"0"	"1920"	"0"	"c.1920C>A"	"r.(?)"	"p.(Gly640=)"	""	""	""
"0000925001"	"00024134"	"30"	"2287"	"-173"	"2287"	"-173"	"c.2287-173C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000925001"	"00025528"	"30"	"2287"	"-173"	"2287"	"-173"	"c.2287-173C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000925002"	"00024134"	"30"	"2287"	"-63"	"2287"	"-63"	"c.2287-63G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000925002"	"00025528"	"30"	"2287"	"-63"	"2287"	"-63"	"c.2287-63G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000925003"	"00024134"	"30"	"2431"	"-255"	"2431"	"-255"	"c.2431-255C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000925003"	"00025528"	"30"	"2431"	"-255"	"2431"	"-255"	"c.2431-255C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000925004"	"00024134"	"30"	"2564"	"0"	"2564"	"0"	"c.2564C>G"	"r.(?)"	"p.(Pro855Arg)"	""	""	""
"0000925004"	"00025528"	"30"	"2564"	"0"	"2564"	"0"	"c.2564C>G"	"r.(?)"	"p.(Pro855Arg)"	""	""	""
"0000925005"	"00024134"	"30"	"3114"	"12"	"3114"	"12"	"c.3114+12G>C"	"r.(=)"	"p.(=)"	""	""	""
"0000925005"	"00025528"	"30"	"3114"	"12"	"3114"	"12"	"c.3114+12G>C"	"r.(=)"	"p.(=)"	""	""	""
"0000925006"	"00024134"	"30"	"3259"	"-8"	"3259"	"-8"	"c.3259-8C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000925006"	"00025528"	"30"	"3259"	"-8"	"3259"	"-8"	"c.3259-8C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000925007"	"00024134"	"30"	"3906"	"19"	"3906"	"19"	"c.3906+19C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000925007"	"00025528"	"30"	"3906"	"19"	"3906"	"19"	"c.3906+19C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000925008"	"00024134"	"30"	"4177"	"-303"	"4177"	"-303"	"c.4177-303G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000925008"	"00025528"	"30"	"4177"	"-303"	"4177"	"-303"	"c.4177-303G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000925009"	"00024134"	"30"	"4177"	"-225"	"4177"	"-225"	"c.4177-225T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000925009"	"00025528"	"30"	"4177"	"-225"	"4177"	"-225"	"c.4177-225T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000925010"	"00024134"	"30"	"4814"	"0"	"4814"	"0"	"c.4814C>T"	"r.(?)"	"p.(Ala1605Val)"	""	""	""
"0000925010"	"00025528"	"30"	"4814"	"0"	"4814"	"0"	"c.4814C>T"	"r.(?)"	"p.(Ala1605Val)"	""	""	""
"0000925011"	"00024134"	"30"	"5025"	"0"	"5025"	"0"	"c.5025C>T"	"r.(?)"	"p.(Ala1675=)"	""	""	""
"0000925011"	"00025528"	"30"	"5025"	"0"	"5025"	"0"	"c.5025C>T"	"r.(?)"	"p.(Ala1675=)"	""	""	""
"0000925012"	"00024134"	"90"	"5025"	"0"	"5025"	"0"	"c.5025dup"	"r.(?)"	"p.(Gly1676Argfs*9)"	""	""	""
"0000925012"	"00025528"	"90"	"5025"	"0"	"5025"	"0"	"c.5025dup"	"r.(?)"	"p.(Gly1676Argfs*9)"	""	""	""
"0000925013"	"00024134"	"30"	"5068"	"-225"	"5068"	"-225"	"c.5068-225C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000925013"	"00025528"	"30"	"5068"	"-357"	"5068"	"-357"	"c.5068-357C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000927459"	"00024134"	"50"	"2845"	"-37"	"2845"	"-37"	"c.2845-37A>G"	"r.(=)"	"p.(=)"	"35i"	"substitution"	"silent"
"0000927459"	"00025528"	"50"	"2845"	"-37"	"2845"	"-37"	"c.2845-37A>G"	"r.(=)"	"p.(=)"	"35i"	"substitution"	"silent"
"0000927460"	"00024134"	"50"	"2952"	"11"	"2952"	"11"	"c.2952+11A>T"	"r.(?)"	"p.(=)"	"37i"	"substitution"	"silent"
"0000927460"	"00025528"	"50"	"2952"	"11"	"2952"	"11"	"c.2952+11A>T"	"r.(?)"	"p.(=)"	"37i"	"substitution"	"silent"
"0000927461"	"00024134"	"90"	"1502"	"0"	"1502"	"0"	"c.1502del"	"r.(?)"	"p.(Pro501Leufs*57)"	"12"	"deletion"	"nonsense;frameshift"
"0000927461"	"00025528"	"90"	"1502"	"0"	"1502"	"0"	"c.1502del"	"r.(?)"	"p.(Pro501Leufs*57)"	"12"	"deletion"	"nonsense;frameshift"
"0000929551"	"00024134"	"30"	"109"	"216"	"109"	"216"	"c.109+216C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000929551"	"00025528"	"30"	"109"	"216"	"109"	"216"	"c.109+216C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000929552"	"00024134"	"30"	"654"	"234"	"654"	"234"	"c.654+234G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000929552"	"00025528"	"30"	"654"	"234"	"654"	"234"	"c.654+234G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000929553"	"00024134"	"50"	"2284"	"0"	"2284"	"0"	"c.2284C>A"	"r.(?)"	"p.(Pro762Thr)"	""	""	""
"0000929553"	"00025528"	"50"	"2284"	"0"	"2284"	"0"	"c.2284C>A"	"r.(?)"	"p.(Pro762Thr)"	""	""	""
"0000929554"	"00024134"	"30"	"2287"	"-222"	"2287"	"-222"	"c.2287-222A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000929554"	"00025528"	"30"	"2287"	"-222"	"2287"	"-222"	"c.2287-222A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000929555"	"00024134"	"30"	"2484"	"151"	"2484"	"151"	"c.2484+151G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000929555"	"00025528"	"30"	"2484"	"151"	"2484"	"151"	"c.2484+151G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000929556"	"00024134"	"30"	"2592"	"207"	"2592"	"207"	"c.2592+207C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000929556"	"00025528"	"30"	"2592"	"207"	"2592"	"207"	"c.2592+207C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000929557"	"00024134"	"30"	"2701"	"-43"	"2701"	"-43"	"c.2701-43G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000929557"	"00025528"	"30"	"2701"	"-43"	"2701"	"-43"	"c.2701-43G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000929558"	"00024134"	"30"	"2895"	"0"	"2895"	"0"	"c.2895C>G"	"r.(?)"	"p.(=)"	""	""	""
"0000929558"	"00025528"	"30"	"2895"	"0"	"2895"	"0"	"c.2895C>G"	"r.(?)"	"p.(Pro965=)"	""	""	""
"0000929559"	"00024134"	"30"	"3006"	"19"	"3006"	"19"	"c.3006+19A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000929559"	"00025528"	"30"	"3006"	"19"	"3006"	"19"	"c.3006+19A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000929560"	"00024134"	"50"	"4210"	"0"	"4210"	"0"	"c.4210C>A"	"r.(?)"	"p.(Gln1404Lys)"	""	""	""
"0000929560"	"00025528"	"50"	"4210"	"0"	"4210"	"0"	"c.4210C>A"	"r.(?)"	"p.(Gln1404Lys)"	""	""	""
"0000929561"	"00024134"	"30"	"4302"	"0"	"4302"	"0"	"c.4302C>T"	"r.(?)"	"p.(=)"	""	""	""
"0000929561"	"00025528"	"30"	"4302"	"0"	"4302"	"0"	"c.4302C>T"	"r.(?)"	"p.(Pro1434=)"	""	""	""
"0000929562"	"00024134"	"30"	"4554"	"124"	"4554"	"124"	"c.4554+124G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000929562"	"00025528"	"30"	"4554"	"124"	"4554"	"124"	"c.4554+124G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000929563"	"00024134"	"50"	"4555"	"-25"	"4555"	"-25"	"c.4555-25A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000929563"	"00025528"	"50"	"4555"	"-25"	"4555"	"-25"	"c.4555-25A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000929564"	"00024134"	"10"	"4683"	"0"	"4683"	"0"	"c.4683A>C"	"r.(?)"	"p.(Gly1561=)"	""	""	""
"0000929564"	"00025528"	"10"	"4683"	"0"	"4683"	"0"	"c.4683A>C"	"r.(?)"	"p.(Gly1561=)"	""	""	""
"0000929565"	"00024134"	"10"	"5151"	"0"	"5151"	"0"	"c.5151C>T"	"r.(?)"	"p.(Asp1717=)"	""	""	""
"0000929565"	"00025528"	"10"	"5151"	"0"	"5151"	"0"	"c.5151C>T"	"r.(?)"	"p.(Asp1717=)"	""	""	""
"0000945968"	"00024134"	"30"	"2101"	"0"	"2101"	"0"	"c.2101A>G"	"r.(?)"	"p.(Met701Val)"	""	""	""
"0000949220"	"00024134"	"30"	"36"	"0"	"36"	"0"	"c.36G>C"	"r.(?)"	"p.(=)"	""	""	""
"0000949220"	"00025528"	"30"	"36"	"0"	"36"	"0"	"c.36G>C"	"r.(?)"	"p.(Ala12=)"	""	""	""
"0000949221"	"00024134"	"30"	"126"	"0"	"126"	"0"	"c.126C>T"	"r.(?)"	"p.(Leu42=)"	""	""	""
"0000949221"	"00025528"	"30"	"126"	"0"	"126"	"0"	"c.126C>T"	"r.(?)"	"p.(Leu42=)"	""	""	""
"0000949222"	"00024134"	"50"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.(?)"	"p.(Asp195Asn)"	""	""	""
"0000949222"	"00025528"	"50"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.(?)"	"p.(Asp195Asn)"	""	""	""
"0000949223"	"00024134"	"30"	"1390"	"-17"	"1390"	"-17"	"c.1390-17T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000949223"	"00025528"	"30"	"1390"	"-17"	"1390"	"-17"	"c.1390-17T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000949224"	"00024134"	"50"	"1825"	"0"	"1825"	"0"	"c.1825C>T"	"r.(?)"	"p.(Arg609Trp)"	""	""	""
"0000949224"	"00025528"	"50"	"1825"	"0"	"1825"	"0"	"c.1825C>T"	"r.(?)"	"p.(Arg609Trp)"	""	""	""
"0000949225"	"00024134"	"30"	"1935"	"141"	"1935"	"141"	"c.1935+141C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000949225"	"00025528"	"30"	"1935"	"141"	"1935"	"141"	"c.1935+141C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000949226"	"00024134"	"50"	"1966"	"0"	"1966"	"0"	"c.1966C>T"	"r.(?)"	"p.(Pro656Ser)"	""	""	""
"0000949226"	"00025528"	"50"	"1966"	"0"	"1966"	"0"	"c.1966C>T"	"r.(?)"	"p.(Pro656Ser)"	""	""	""
"0000949227"	"00024134"	"50"	"1970"	"0"	"1970"	"0"	"c.1970C>T"	"r.(?)"	"p.(Pro657Leu)"	""	""	""
"0000949227"	"00025528"	"50"	"1970"	"0"	"1970"	"0"	"c.1970C>T"	"r.(?)"	"p.(Pro657Leu)"	""	""	""
"0000949228"	"00024134"	"10"	"2439"	"0"	"2439"	"0"	"c.2439C>T"	"r.(?)"	"p.(Asp813=)"	""	""	""
"0000949228"	"00025528"	"10"	"2439"	"0"	"2439"	"0"	"c.2439C>T"	"r.(?)"	"p.(Asp813=)"	""	""	""
"0000949229"	"00024134"	"50"	"2680"	"0"	"2680"	"0"	"c.2680A>G"	"r.(?)"	"p.(Asn894Asp)"	""	""	""
"0000949229"	"00025528"	"50"	"2680"	"0"	"2680"	"0"	"c.2680A>G"	"r.(?)"	"p.(Asn894Asp)"	""	""	""
"0000949230"	"00024134"	"30"	"2800"	"-84"	"2800"	"-84"	"c.2800-84C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000949230"	"00025528"	"30"	"2800"	"-84"	"2800"	"-84"	"c.2800-84C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000949231"	"00024134"	"30"	"2845"	"-118"	"2845"	"-118"	"c.2845-118C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000949231"	"00025528"	"30"	"2845"	"-118"	"2845"	"-118"	"c.2845-118C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000949232"	"00024134"	"30"	"2847"	"0"	"2847"	"0"	"c.2847A>T"	"r.(?)"	"p.(=)"	""	""	""
"0000949232"	"00025528"	"30"	"2847"	"0"	"2847"	"0"	"c.2847A>T"	"r.(?)"	"p.(Gly949=)"	""	""	""
"0000949233"	"00024134"	"30"	"3258"	"11"	"3258"	"11"	"c.3258+11G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000949233"	"00025528"	"30"	"3258"	"11"	"3258"	"11"	"c.3258+11G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000949234"	"00024134"	"30"	"3691"	"-373"	"3691"	"-373"	"c.3691-373G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000949234"	"00025528"	"30"	"3691"	"-373"	"3691"	"-373"	"c.3691-373G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000949235"	"00024134"	"30"	"3906"	"20"	"3906"	"20"	"c.3906+20G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000949235"	"00025528"	"30"	"3906"	"20"	"3906"	"20"	"c.3906+20G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000949236"	"00024134"	"10"	"4065"	"0"	"4065"	"0"	"c.4065C>T"	"r.(?)"	"p.(Pro1355=)"	""	""	""
"0000949236"	"00025528"	"10"	"4065"	"0"	"4065"	"0"	"c.4065C>T"	"r.(?)"	"p.(Pro1355=)"	""	""	""
"0000949237"	"00024134"	"30"	"4230"	"320"	"4230"	"320"	"c.4230+320C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000949237"	"00025528"	"30"	"4230"	"320"	"4230"	"320"	"c.4230+320C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000949238"	"00024134"	"30"	"4231"	"-69"	"4231"	"-69"	"c.4231-69A>C"	"r.(=)"	"p.(=)"	""	""	""
"0000949238"	"00025528"	"30"	"4231"	"-69"	"4231"	"-69"	"c.4231-69A>C"	"r.(=)"	"p.(=)"	""	""	""
"0000949239"	"00024134"	"30"	"4614"	"0"	"4614"	"0"	"c.4614G>A"	"r.(?)"	"p.(=)"	""	""	""
"0000949239"	"00025528"	"30"	"4614"	"0"	"4614"	"0"	"c.4614G>A"	"r.(?)"	"p.(Pro1538=)"	""	""	""
"0000949240"	"00024134"	"30"	"4699"	"-6"	"4699"	"-6"	"c.4699-6C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000949240"	"00025528"	"30"	"4699"	"-6"	"4699"	"-6"	"c.4699-6C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000949241"	"00024134"	"50"	"4994"	"0"	"4994"	"0"	"c.4994A>T"	"r.(?)"	"p.(Asp1665Val)"	""	""	""
"0000949241"	"00025528"	"50"	"4994"	"0"	"4994"	"0"	"c.4994A>T"	"r.(?)"	"p.(Asp1665Val)"	""	""	""
"0000949242"	"00024134"	"50"	"5026"	"0"	"5026"	"0"	"c.5026G>A"	"r.(?)"	"p.(Gly1676Arg)"	""	""	""
"0000949242"	"00025528"	"50"	"5026"	"0"	"5026"	"0"	"c.5026G>A"	"r.(?)"	"p.(Gly1676Arg)"	""	""	""
"0000949243"	"00024134"	"30"	"5068"	"-7"	"5068"	"-7"	"c.5068-7T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000949243"	"00025528"	"30"	"5068"	"-139"	"5068"	"-139"	"c.5068-139T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000949244"	"00024134"	"30"	"5370"	"13"	"5370"	"13"	"c.5370+13C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000949244"	"00025528"	"30"	"5370"	"13"	"5370"	"13"	"c.5370+13C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000949245"	"00024134"	"50"	"5411"	"0"	"5411"	"0"	"c.5411C>A"	"r.(?)"	"p.(Thr1804Asn)"	""	""	""
"0000949245"	"00025528"	"50"	"5411"	"0"	"5411"	"0"	"c.5411C>A"	"r.(?)"	"p.(Thr1804Asn)"	""	""	""
"0000960293"	"00024134"	"90"	"1502"	"0"	"1502"	"0"	"c.1502dup"	"r.(?)"	"p.(Gly502TrpfsTer114)"	""	""	""
"0000965245"	"00024134"	"10"	"61"	"0"	"61"	"0"	"c.61C>T"	"r.(?)"	"p.(Pro21Ser)"	""	""	""
"0000965245"	"00025528"	"10"	"61"	"0"	"61"	"0"	"c.61C>T"	"r.(?)"	"p.(Pro21Ser)"	""	""	""
"0000965246"	"00024134"	"30"	"109"	"220"	"109"	"220"	"c.109+220T>G"	"r.(=)"	"p.(=)"	""	""	""
"0000965246"	"00025528"	"30"	"109"	"220"	"109"	"220"	"c.109+220T>G"	"r.(=)"	"p.(=)"	""	""	""
"0000965247"	"00024134"	"30"	"270"	"0"	"270"	"0"	"c.270G>A"	"r.(?)"	"p.(=)"	""	""	""
"0000965247"	"00025528"	"30"	"270"	"0"	"270"	"0"	"c.270G>A"	"r.(?)"	"p.(Leu90=)"	""	""	""
"0000965248"	"00024134"	"30"	"655"	"-118"	"655"	"-118"	"c.655-118G>T"	"r.(=)"	"p.(=)"	""	""	""
"0000965248"	"00025528"	"30"	"655"	"-118"	"655"	"-118"	"c.655-118G>T"	"r.(=)"	"p.(=)"	""	""	""
"0000965249"	"00024134"	"30"	"1158"	"0"	"1158"	"0"	"c.1158C>T"	"r.(?)"	"p.(Ser386=)"	""	""	""
"0000965249"	"00025528"	"30"	"1158"	"0"	"1158"	"0"	"c.1158C>T"	"r.(?)"	"p.(Ser386=)"	""	""	""
"0000965250"	"00024134"	"30"	"1164"	"167"	"1164"	"167"	"c.1164+167G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000965250"	"00025528"	"30"	"1164"	"167"	"1164"	"167"	"c.1164+167G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000965251"	"00024134"	"30"	"1663"	"-170"	"1663"	"-169"	"c.1663-170_1663-169insA"	"r.(=)"	"p.(=)"	""	""	""
"0000965251"	"00025528"	"30"	"1663"	"-170"	"1663"	"-169"	"c.1663-170_1663-169insA"	"r.(=)"	"p.(=)"	""	""	""
"0000965252"	"00024134"	"30"	"1663"	"-158"	"1663"	"-158"	"c.1663-158G>C"	"r.(=)"	"p.(=)"	""	""	""
"0000965252"	"00025528"	"30"	"1663"	"-158"	"1663"	"-158"	"c.1663-158G>C"	"r.(=)"	"p.(=)"	""	""	""
"0000965253"	"00024134"	"30"	"1719"	"165"	"1719"	"165"	"c.1719+165C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000965253"	"00025528"	"30"	"1719"	"165"	"1719"	"165"	"c.1719+165C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000965254"	"00024134"	"50"	"1825"	"0"	"1825"	"0"	"c.1825C>T"	"r.(?)"	"p.(Arg609Trp)"	""	""	""
"0000965254"	"00025528"	"50"	"1825"	"0"	"1825"	"0"	"c.1825C>T"	"r.(?)"	"p.(Arg609Trp)"	""	""	""
"0000965255"	"00024134"	"30"	"1989"	"302"	"1989"	"302"	"c.1989+302G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000965255"	"00025528"	"30"	"1989"	"302"	"1989"	"302"	"c.1989+302G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000965256"	"00024134"	"30"	"2385"	"270"	"2385"	"270"	"c.2385+270G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000965256"	"00025528"	"30"	"2385"	"270"	"2385"	"270"	"c.2385+270G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000965257"	"00024134"	"70"	"2557"	"0"	"2557"	"0"	"c.2557G>C"	"r.(?)"	"p.(Gly853Arg)"	""	""	""
"0000965257"	"00025528"	"70"	"2557"	"0"	"2557"	"0"	"c.2557G>C"	"r.(?)"	"p.(Gly853Arg)"	""	""	""
"0000965258"	"00024134"	"90"	"2582"	"0"	"2582"	"0"	"c.2582dup"	"r.(?)"	"p.(Gly862Trpfs*59)"	""	""	""
"0000965258"	"00025528"	"90"	"2582"	"0"	"2582"	"0"	"c.2582dup"	"r.(?)"	"p.(Gly862Trpfs*59)"	""	""	""
"0000965259"	"00024134"	"30"	"2588"	"0"	"2588"	"0"	"c.2588A>T"	"r.(?)"	"p.(Glu863Val)"	""	""	""
"0000965259"	"00025528"	"30"	"2588"	"0"	"2588"	"0"	"c.2588A>T"	"r.(?)"	"p.(Glu863Val)"	""	""	""
"0000965260"	"00024134"	"30"	"2646"	"116"	"2646"	"116"	"c.2646+116C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000965260"	"00025528"	"30"	"2646"	"116"	"2646"	"116"	"c.2646+116C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000965261"	"00024134"	"30"	"2701"	"-127"	"2701"	"-127"	"c.2701-127C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000965261"	"00025528"	"30"	"2701"	"-127"	"2701"	"-127"	"c.2701-127C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000965262"	"00024134"	"30"	"2701"	"-75"	"2701"	"-75"	"c.2701-75A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000965262"	"00025528"	"30"	"2701"	"-75"	"2701"	"-75"	"c.2701-75A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000965263"	"00024134"	"30"	"3006"	"159"	"3006"	"159"	"c.3006+159G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000965263"	"00025528"	"30"	"3006"	"159"	"3006"	"159"	"c.3006+159G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000965264"	"00024134"	"30"	"3418"	"0"	"3418"	"0"	"c.3418G>A"	"r.(?)"	"p.(Val1140Met)"	""	""	""
"0000965264"	"00025528"	"30"	"3418"	"0"	"3418"	"0"	"c.3418G>A"	"r.(?)"	"p.(Val1140Met)"	""	""	""
"0000965265"	"00024134"	"90"	"3422"	"0"	"3422"	"0"	"c.3422G>A"	"r.(?)"	"p.(Gly1141Glu)"	""	""	""
"0000965265"	"00025528"	"90"	"3422"	"0"	"3422"	"0"	"c.3422G>A"	"r.(?)"	"p.(Gly1141Glu)"	""	""	""
"0000965266"	"00024134"	"30"	"3491"	"0"	"3491"	"0"	"c.3491C>T"	"r.(?)"	"p.(Pro1164Leu)"	""	""	""
"0000965266"	"00025528"	"30"	"3491"	"0"	"3491"	"0"	"c.3491C>T"	"r.(?)"	"p.(Pro1164Leu)"	""	""	""
"0000965267"	"00024134"	"30"	"3691"	"-143"	"3691"	"-143"	"c.3691-143G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000965267"	"00025528"	"30"	"3691"	"-143"	"3691"	"-143"	"c.3691-143G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000965268"	"00024134"	"30"	"3853"	"-262"	"3853"	"-262"	"c.3853-262G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000965268"	"00025528"	"30"	"3853"	"-262"	"3853"	"-262"	"c.3853-262G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000965269"	"00024134"	"30"	"4122"	"170"	"4122"	"170"	"c.4122+170T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000965269"	"00025528"	"30"	"4122"	"170"	"4122"	"170"	"c.4122+170T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000965270"	"00024134"	"30"	"4231"	"-13"	"4231"	"-13"	"c.4231-13C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000965270"	"00025528"	"30"	"4231"	"-13"	"4231"	"-13"	"c.4231-13C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000965271"	"00024134"	"90"	"4555"	"-25"	"4555"	"-25"	"c.4555-25A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000965271"	"00025528"	"90"	"4555"	"-25"	"4555"	"-25"	"c.4555-25A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000965272"	"00024134"	"30"	"4955"	"-232"	"4955"	"-232"	"c.4955-232G>C"	"r.(=)"	"p.(=)"	""	""	""
"0000965272"	"00025528"	"30"	"4955"	"-232"	"4955"	"-232"	"c.4955-232G>C"	"r.(=)"	"p.(=)"	""	""	""
"0000965273"	"00024134"	"30"	"5370"	"68"	"5370"	"68"	"c.5370+68C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000965273"	"00025528"	"30"	"5370"	"68"	"5370"	"68"	"c.5370+68C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000978499"	"00024134"	"50"	"572"	"0"	"572"	"0"	"c.572T>C"	"r.(?)"	"p.(Leu191Pro)"	""	""	""
"0000978499"	"00025528"	"50"	"572"	"0"	"572"	"0"	"c.572T>C"	"r.(?)"	"p.(Leu191Pro)"	""	""	""
"0000978500"	"00024134"	"30"	"598"	"0"	"598"	"0"	"c.598G>A"	"r.(?)"	"p.(Asp200Asn)"	""	""	""
"0000978500"	"00025528"	"30"	"598"	"0"	"598"	"0"	"c.598G>A"	"r.(?)"	"p.(Asp200Asn)"	""	""	""
"0000978501"	"00024134"	"30"	"654"	"273"	"654"	"273"	"c.654+273G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000978501"	"00025528"	"30"	"654"	"273"	"654"	"273"	"c.654+273G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000978502"	"00024134"	"30"	"786"	"208"	"786"	"208"	"c.786+208A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000978502"	"00025528"	"30"	"786"	"208"	"786"	"208"	"c.786+208A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000978503"	"00024134"	"30"	"1389"	"32"	"1389"	"32"	"c.1389+32C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000978503"	"00025528"	"30"	"1389"	"32"	"1389"	"32"	"c.1389+32C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000978504"	"00024134"	"30"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	""	""	""
"0000978504"	"00025528"	"30"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	""	""	""
"0000978505"	"00024134"	"30"	"1719"	"41"	"1719"	"41"	"c.1719+41G>C"	"r.(=)"	"p.(=)"	""	""	""
"0000978505"	"00025528"	"30"	"1719"	"41"	"1719"	"41"	"c.1719+41G>C"	"r.(=)"	"p.(=)"	""	""	""
"0000978506"	"00024134"	"30"	"1719"	"55"	"1719"	"55"	"c.1719+55C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000978506"	"00025528"	"30"	"1719"	"55"	"1719"	"55"	"c.1719+55C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000978507"	"00024134"	"30"	"2133"	"81"	"2133"	"81"	"c.2133+81G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000978507"	"00025528"	"30"	"2133"	"81"	"2133"	"81"	"c.2133+81G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000978508"	"00024134"	"30"	"2134"	"-138"	"2134"	"-138"	"c.2134-138G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000978508"	"00025528"	"30"	"2134"	"-138"	"2134"	"-138"	"c.2134-138G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000978509"	"00024134"	"30"	"2287"	"-251"	"2287"	"-251"	"c.2287-251G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000978509"	"00025528"	"30"	"2287"	"-251"	"2287"	"-251"	"c.2287-251G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000978510"	"00024134"	"50"	"2321"	"0"	"2321"	"0"	"c.2321A>C"	"r.(?)"	"p.(Lys774Thr)"	""	""	""
"0000978510"	"00025528"	"50"	"2321"	"0"	"2321"	"0"	"c.2321A>C"	"r.(?)"	"p.(Lys774Thr)"	""	""	""
"0000978511"	"00024134"	"30"	"2588"	"0"	"2588"	"0"	"c.2588A>T"	"r.(?)"	"p.(Glu863Val)"	""	""	""
"0000978511"	"00025528"	"30"	"2588"	"0"	"2588"	"0"	"c.2588A>T"	"r.(?)"	"p.(Glu863Val)"	""	""	""
"0000978512"	"00024134"	"10"	"2695"	"0"	"2695"	"0"	"c.2695G>A"	"r.(?)"	"p.(Gly899Ser)"	""	""	""
"0000978512"	"00025528"	"10"	"2695"	"0"	"2695"	"0"	"c.2695G>A"	"r.(?)"	"p.(Gly899Ser)"	""	""	""
"0000978513"	"00024134"	"30"	"2800"	"-18"	"2800"	"-18"	"c.2800-18C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000978513"	"00025528"	"30"	"2800"	"-18"	"2800"	"-18"	"c.2800-18C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000978514"	"00024134"	"10"	"2852"	"0"	"2852"	"0"	"c.2852A>G"	"r.(?)"	"p.(Asn951Ser)"	""	""	""
"0000978514"	"00025528"	"10"	"2852"	"0"	"2852"	"0"	"c.2852A>G"	"r.(?)"	"p.(Asn951Ser)"	""	""	""
"0000978515"	"00024134"	"30"	"3258"	"69"	"3258"	"69"	"c.3258+69G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000978515"	"00025528"	"30"	"3258"	"69"	"3258"	"69"	"c.3258+69G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000978516"	"00024134"	"30"	"3418"	"0"	"3418"	"0"	"c.3418G>A"	"r.(?)"	"p.(Val1140Met)"	""	""	""
"0000978516"	"00025528"	"30"	"3418"	"0"	"3418"	"0"	"c.3418G>A"	"r.(?)"	"p.(Val1140Met)"	""	""	""
"0000978517"	"00024134"	"50"	"3752"	"0"	"3752"	"0"	"c.3752C>T"	"r.(?)"	"p.(Pro1251Leu)"	""	""	""
"0000978517"	"00025528"	"50"	"3752"	"0"	"3752"	"0"	"c.3752C>T"	"r.(?)"	"p.(Pro1251Leu)"	""	""	""
"0000978518"	"00024134"	"30"	"3905"	"0"	"3905"	"0"	"c.3905C>T"	"r.(?)"	"p.(Pro1302Leu)"	""	""	""
"0000978518"	"00025528"	"30"	"3905"	"0"	"3905"	"0"	"c.3905C>T"	"r.(?)"	"p.(Pro1302Leu)"	""	""	""
"0000978519"	"00024134"	"30"	"4123"	"-204"	"4123"	"-204"	"c.4123-204C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000978519"	"00025528"	"30"	"4123"	"-204"	"4123"	"-204"	"c.4123-204C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000978520"	"00024134"	"30"	"4177"	"-222"	"4177"	"-222"	"c.4177-222G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000978520"	"00025528"	"30"	"4177"	"-222"	"4177"	"-222"	"c.4177-222G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000978521"	"00024134"	"30"	"4447"	"-77"	"4447"	"-77"	"c.4447-77G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000978521"	"00025528"	"30"	"4447"	"-77"	"4447"	"-77"	"c.4447-77G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000978522"	"00024134"	"10"	"5137"	"-11"	"5137"	"-11"	"c.5137-11T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000978522"	"00025528"	"10"	"5137"	"-11"	"5137"	"-11"	"c.5137-11T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000978523"	"00024134"	"10"	"5151"	"0"	"5151"	"0"	"c.5151C>T"	"r.(?)"	"p.(Asp1717=)"	""	""	""
"0000978523"	"00025528"	"10"	"5151"	"0"	"5151"	"0"	"c.5151C>T"	"r.(?)"	"p.(Asp1717=)"	""	""	""
"0000985373"	"00024134"	"30"	"1828"	"-983"	"1828"	"-983"	"c.1828-983G>A"	"r.(?)"	"p.(?)"	""	""	""
"0000987731"	"00024134"	"90"	"5031"	"0"	"5031"	"0"	"c.5031dup"	"r.(?)"	"p.(Ser1678ValfsTer7)"	""	""	""
"0000988636"	"00024134"	"90"	"2800"	"-2"	"2800"	"-2"	"c.2800-2A>G"	"r.(?)"	"p.(?)"	""	""	""
"0000989083"	"00024134"	"30"	"5492"	"0"	"5492"	"0"	"c.5492T>C"	"r.(?)"	"p.(Val1831Ala)"	""	""	""
"0000989397"	"00024134"	"77"	"1720"	"-11"	"1720"	"-11"	"c.1720-11T>A"	"r.(=)"	"p.(=)"	""	"substitution"	"splicing affected, exon skipped"
"0000989410"	"00024134"	"90"	"-383"	"0"	"109"	"1"	"c.(?_-383)_(109+1_110-1)del"	"r.0?"	"p.0?"	"_1_1i"	""	""
"0000997615"	"00024134"	"90"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.?"	""	""	""
"0000997615"	"00025528"	"90"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.(Met1?)"	""	""	""
"0000997616"	"00024134"	"10"	"12"	"0"	"12"	"0"	"c.12T>C"	"r.(?)"	"p.(=)"	""	""	""
"0000997616"	"00025528"	"10"	"12"	"0"	"12"	"0"	"c.12T>C"	"r.(?)"	"p.(His4=)"	""	""	""
"0000997617"	"00024134"	"30"	"61"	"0"	"61"	"0"	"c.61C>T"	"r.(?)"	"p.(Pro21Ser)"	""	""	""
"0000997617"	"00025528"	"30"	"61"	"0"	"61"	"0"	"c.61C>T"	"r.(?)"	"p.(Pro21Ser)"	""	""	""
"0000997618"	"00024134"	"50"	"467"	"0"	"467"	"0"	"c.467G>A"	"r.(?)"	"p.(Arg156Gln)"	""	""	""
"0000997618"	"00025528"	"50"	"467"	"0"	"467"	"0"	"c.467G>A"	"r.(?)"	"p.(Arg156Gln)"	""	""	""
"0000997619"	"00024134"	"30"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.(?)"	"p.(Asp195Asn)"	""	""	""
"0000997619"	"00025528"	"30"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.(?)"	"p.(Asp195Asn)"	""	""	""
"0000997620"	"00024134"	"30"	"655"	"-16"	"655"	"-16"	"c.655-16G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000997620"	"00025528"	"30"	"655"	"-16"	"655"	"-16"	"c.655-16G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000997621"	"00024134"	"30"	"690"	"0"	"690"	"0"	"c.690C>G"	"r.(?)"	"p.(His230Gln)"	""	""	""
"0000997621"	"00025528"	"30"	"690"	"0"	"690"	"0"	"c.690C>G"	"r.(?)"	"p.(His230Gln)"	""	""	""
"0000997622"	"00024134"	"30"	"761"	"0"	"761"	"0"	"c.761C>T"	"r.(?)"	"p.(Ser254Leu)"	""	""	""
"0000997622"	"00025528"	"30"	"761"	"0"	"761"	"0"	"c.761C>T"	"r.(?)"	"p.(Ser254Leu)"	""	""	""
"0000997623"	"00024134"	"50"	"787"	"-141"	"787"	"-141"	"c.787-141C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000997623"	"00025528"	"50"	"787"	"-141"	"787"	"-141"	"c.787-141C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000997624"	"00024134"	"30"	"1390"	"-22"	"1390"	"-22"	"c.1390-22C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000997624"	"00025528"	"30"	"1390"	"-22"	"1390"	"-22"	"c.1390-22C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000997625"	"00024134"	"30"	"1882"	"-76"	"1882"	"-76"	"c.1882-76C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000997625"	"00025528"	"30"	"1882"	"-76"	"1882"	"-76"	"c.1882-76C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000997626"	"00024134"	"30"	"2088"	"232"	"2088"	"232"	"c.2088+232C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000997626"	"00025528"	"30"	"2088"	"232"	"2088"	"232"	"c.2088+232C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000997627"	"00024134"	"30"	"2089"	"-188"	"2089"	"-188"	"c.2089-188A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000997627"	"00025528"	"30"	"2089"	"-188"	"2089"	"-188"	"c.2089-188A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000997628"	"00024134"	"50"	"2284"	"0"	"2284"	"0"	"c.2284C>A"	"r.(?)"	"p.(Pro762Thr)"	""	""	""
"0000997628"	"00025528"	"50"	"2284"	"0"	"2284"	"0"	"c.2284C>A"	"r.(?)"	"p.(Pro762Thr)"	""	""	""
"0000997629"	"00024134"	"30"	"2485"	"-226"	"2485"	"-226"	"c.2485-226C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000997629"	"00025528"	"30"	"2485"	"-226"	"2485"	"-226"	"c.2485-226C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000997630"	"00024134"	"30"	"2593"	"-3"	"2593"	"-3"	"c.2593-3C>T"	"r.spl?"	"p.?"	""	""	""
"0000997630"	"00025528"	"30"	"2593"	"-3"	"2593"	"-3"	"c.2593-3C>T"	"r.spl?"	"p.?"	""	""	""
"0000997631"	"00024134"	"30"	"2799"	"42"	"2799"	"42"	"c.2799+42A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000997631"	"00025528"	"30"	"2799"	"42"	"2799"	"42"	"c.2799+42A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000997632"	"00024134"	"30"	"2844"	"203"	"2844"	"203"	"c.2844+203del"	"r.(=)"	"p.(=)"	""	""	""
"0000997632"	"00025528"	"30"	"2844"	"203"	"2844"	"203"	"c.2844+203del"	"r.(=)"	"p.(=)"	""	""	""
"0000997633"	"00024134"	"30"	"3007"	"-219"	"3007"	"-219"	"c.3007-219C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000997633"	"00025528"	"30"	"3007"	"-219"	"3007"	"-219"	"c.3007-219C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000997634"	"00024134"	"30"	"3115"	"-278"	"3115"	"-278"	"c.3115-278G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000997634"	"00025528"	"30"	"3115"	"-278"	"3115"	"-278"	"c.3115-278G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000997635"	"00024134"	"50"	"3592"	"0"	"3592"	"0"	"c.3592G>A"	"r.(?)"	"p.(Gly1198Ser)"	""	""	""
"0000997635"	"00025528"	"50"	"3592"	"0"	"3592"	"0"	"c.3592G>A"	"r.(?)"	"p.(Gly1198Ser)"	""	""	""
"0000997636"	"00024134"	"30"	"3691"	"-9"	"3691"	"-9"	"c.3691-9T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000997636"	"00025528"	"30"	"3691"	"-9"	"3691"	"-9"	"c.3691-9T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000997637"	"00024134"	"30"	"3906"	"19"	"3906"	"19"	"c.3906+19C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000997637"	"00025528"	"30"	"3906"	"19"	"3906"	"19"	"c.3906+19C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000997638"	"00024134"	"30"	"4066"	"0"	"4066"	"0"	"c.4066G>A"	"r.(?)"	"p.(Ala1356Thr)"	""	""	""
"0000997638"	"00025528"	"30"	"4066"	"0"	"4066"	"0"	"c.4066G>A"	"r.(?)"	"p.(Ala1356Thr)"	""	""	""
"0000997639"	"00024134"	"50"	"4067"	"0"	"4067"	"0"	"c.4067C>T"	"r.(?)"	"p.(Ala1356Val)"	""	""	""
"0000997639"	"00025528"	"50"	"4067"	"0"	"4067"	"0"	"c.4067C>T"	"r.(?)"	"p.(Ala1356Val)"	""	""	""
"0000997640"	"00024134"	"50"	"4121"	"0"	"4121"	"0"	"c.4121C>T"	"r.(?)"	"p.(Thr1374Met)"	""	""	""
"0000997640"	"00025528"	"50"	"4121"	"0"	"4121"	"0"	"c.4121C>T"	"r.(?)"	"p.(Thr1374Met)"	""	""	""
"0000997641"	"00024134"	"30"	"4446"	"183"	"4446"	"183"	"c.4446+183C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000997641"	"00025528"	"30"	"4446"	"183"	"4446"	"183"	"c.4446+183C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000997642"	"00024134"	"50"	"4554"	"5"	"4554"	"5"	"c.4554+5G>A"	"r.spl?"	"p.?"	""	""	""
"0000997642"	"00025528"	"50"	"4554"	"5"	"4554"	"5"	"c.4554+5G>A"	"r.spl?"	"p.?"	""	""	""
"0000997643"	"00024134"	"10"	"4554"	"258"	"4554"	"258"	"c.4554+258C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000997643"	"00025528"	"10"	"4554"	"258"	"4554"	"258"	"c.4554+258C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000997644"	"00024134"	"30"	"4555"	"-76"	"4555"	"-76"	"c.4555-76G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000997644"	"00025528"	"30"	"4555"	"-76"	"4555"	"-76"	"c.4555-76G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000997645"	"00024134"	"30"	"4609"	"-277"	"4609"	"-276"	"c.4609-277_4609-276insG"	"r.(=)"	"p.(=)"	""	""	""
"0000997645"	"00025528"	"30"	"4609"	"-277"	"4609"	"-276"	"c.4609-277_4609-276insG"	"r.(=)"	"p.(=)"	""	""	""
"0000997646"	"00024134"	"30"	"5137"	"-200"	"5137"	"-200"	"c.5137-200G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000997646"	"00025528"	"30"	"5137"	"-200"	"5137"	"-200"	"c.5137-200G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000997647"	"00024134"	"50"	"5350"	"0"	"5350"	"0"	"c.5350G>C"	"r.(?)"	"p.(Ala1784Pro)"	""	""	""
"0000997647"	"00025528"	"50"	"5350"	"0"	"5350"	"0"	"c.5350G>C"	"r.(?)"	"p.(Ala1784Pro)"	""	""	""
"0001007450"	"00024134"	"70"	"2042"	"0"	"2042"	"0"	"c.2042G>A"	"r.(?)"	"p.(Arg681His)"	""	""	""
"0001007451"	"00024134"	"70"	"2269"	"0"	"2269"	"0"	"c.2269G>A"	"r.(?)"	"p.(Gly757Ser)"	""	""	""
"0001007452"	"00024134"	"70"	"1574"	"0"	"1574"	"0"	"c.1574G>A"	"r.(?)"	"p.(Arg525Gln)"	""	""	""
"0001007453"	"00024134"	"70"	"5158"	"0"	"5158"	"0"	"c.5158G>A"	"r.(?)"	"p.(Gly1720Ser)"	""	""	""
"0001007548"	"00024134"	"70"	"3014"	"0"	"3014"	"0"	"c.3014C>T"	"r.(?)"	"p.(Thr1005Met)"	""	""	""
"0001007554"	"00024134"	"70"	"3023"	"0"	"3023"	"0"	"c.3023C>T"	"r.(?)"	"p.(Thr1008Met)"	""	""	""
"0001007555"	"00024134"	"70"	"1637"	"0"	"1637"	"0"	"c.1637C>T"	"r.(?)"	"p.(Ala546Val)"	""	""	""
"0001012515"	"00024134"	"30"	"1774"	"-6"	"1774"	"-6"	"c.1774-6del"	"r.(?)"	"p.(?)"	""	""	""
"0001014512"	"00024134"	"50"	"19"	"0"	"19"	"0"	"c.19T>C"	"r.(?)"	"p.(Trp7Arg)"	""	""	""
"0001014512"	"00025528"	"50"	"19"	"0"	"19"	"0"	"c.19T>C"	"r.(?)"	"p.(Trp7Arg)"	""	""	""
"0001014513"	"00024134"	"50"	"598"	"0"	"598"	"0"	"c.598G>A"	"r.(?)"	"p.(Asp200Asn)"	""	""	""
"0001014513"	"00025528"	"50"	"598"	"0"	"598"	"0"	"c.598G>A"	"r.(?)"	"p.(Asp200Asn)"	""	""	""
"0001014514"	"00024134"	"30"	"1936"	"-17"	"1936"	"-17"	"c.1936-17A>T"	"r.(=)"	"p.(=)"	""	""	""
"0001014514"	"00025528"	"30"	"1936"	"-17"	"1936"	"-17"	"c.1936-17A>T"	"r.(=)"	"p.(=)"	""	""	""
"0001014515"	"00024134"	"50"	"2321"	"0"	"2321"	"0"	"c.2321A>C"	"r.(?)"	"p.(Lys774Thr)"	""	""	""
"0001014515"	"00025528"	"50"	"2321"	"0"	"2321"	"0"	"c.2321A>C"	"r.(?)"	"p.(Lys774Thr)"	""	""	""
"0001014516"	"00024134"	"30"	"3402"	"0"	"3402"	"0"	"c.3402C>T"	"r.(?)"	"p.(Asp1134=)"	""	""	""
"0001014516"	"00025528"	"30"	"3402"	"0"	"3402"	"0"	"c.3402C>T"	"r.(?)"	"p.(Asp1134=)"	""	""	""
"0001014517"	"00024134"	"50"	"3428"	"0"	"3428"	"0"	"c.3428C>T"	"r.(?)"	"p.(Pro1143Leu)"	""	""	""
"0001014517"	"00025528"	"50"	"3428"	"0"	"3428"	"0"	"c.3428C>T"	"r.(?)"	"p.(Pro1143Leu)"	""	""	""
"0001014518"	"00024134"	"90"	"4288"	"0"	"4288"	"0"	"c.4288del"	"r.(?)"	"p.(Ala1430Profs*58)"	""	""	""
"0001014518"	"00025528"	"90"	"4288"	"0"	"4288"	"0"	"c.4288del"	"r.(?)"	"p.(Ala1430Profs*58)"	""	""	""
"0001014519"	"00024134"	"50"	"5435"	"0"	"5435"	"0"	"c.5435T>A"	"r.(?)"	"p.(Ile1812Asn)"	""	""	""
"0001014519"	"00025528"	"50"	"5435"	"0"	"5435"	"0"	"c.5435T>A"	"r.(?)"	"p.(Ile1812Asn)"	""	""	""
"0001022093"	"00024134"	"50"	"5024"	"0"	"5024"	"0"	"c.5024C>A"	"r.5024C>A"	"p.Ala1675Asp"	"63"	""	""
"0001022134"	"00024134"	"50"	"4067"	"0"	"4067"	"0"	"c.4067C>T"	"r.4067C>T"	"p.Ala1356Val"	"51"	""	""
"0001025611"	"00024134"	"90"	"654"	"1"	"654"	"1"	"c.654+1G>C"	"r.spl?"	"p.?"	""	""	""
"0001025611"	"00025528"	"90"	"654"	"1"	"654"	"1"	"c.654+1G>C"	"r.spl?"	"p.?"	""	""	""
"0001025612"	"00024134"	"50"	"674"	"0"	"674"	"0"	"c.674T>C"	"r.(?)"	"p.(Leu225Pro)"	""	""	""
"0001025612"	"00025528"	"50"	"674"	"0"	"674"	"0"	"c.674T>C"	"r.(?)"	"p.(Leu225Pro)"	""	""	""
"0001025613"	"00024134"	"30"	"786"	"11"	"786"	"11"	"c.786+11T>G"	"r.(=)"	"p.(=)"	""	""	""
"0001025613"	"00025528"	"30"	"786"	"11"	"786"	"11"	"c.786+11T>G"	"r.(=)"	"p.(=)"	""	""	""
"0001025614"	"00024134"	"30"	"787"	"-15"	"787"	"-15"	"c.787-15G>A"	"r.(=)"	"p.(=)"	""	""	""
"0001025614"	"00025528"	"30"	"787"	"-15"	"787"	"-15"	"c.787-15G>A"	"r.(=)"	"p.(=)"	""	""	""
"0001025615"	"00024134"	"30"	"787"	"-9"	"787"	"-9"	"c.787-9C>T"	"r.(=)"	"p.(=)"	""	""	""
"0001025615"	"00025528"	"30"	"787"	"-9"	"787"	"-9"	"c.787-9C>T"	"r.(=)"	"p.(=)"	""	""	""
"0001025616"	"00024134"	"10"	"1062"	"0"	"1062"	"0"	"c.1062C>T"	"r.(?)"	"p.(=)"	""	""	""
"0001025616"	"00025528"	"10"	"1062"	"0"	"1062"	"0"	"c.1062C>T"	"r.(?)"	"p.(Asp354=)"	""	""	""
"0001025617"	"00024134"	"90"	"1234"	"0"	"1235"	"0"	"c.1234_1235del"	"r.(?)"	"p.(Leu412*)"	""	""	""
"0001025617"	"00025528"	"90"	"1234"	"0"	"1235"	"0"	"c.1234_1235del"	"r.(?)"	"p.(Leu412*)"	""	""	""
"0001025618"	"00024134"	"50"	"1333"	"-5"	"1333"	"-5"	"c.1333-5C>T"	"r.spl?"	"p.?"	""	""	""
"0001025618"	"00025528"	"50"	"1333"	"-5"	"1333"	"-5"	"c.1333-5C>T"	"r.spl?"	"p.?"	""	""	""
"0001025619"	"00024134"	"90"	"1360"	"0"	"1360"	"0"	"c.1360C>T"	"r.(?)"	"p.(Gln454*)"	""	""	""
"0001025619"	"00025528"	"90"	"1360"	"0"	"1360"	"0"	"c.1360C>T"	"r.(?)"	"p.(Gln454*)"	""	""	""
"0001025620"	"00024134"	"10"	"1566"	"0"	"1566"	"0"	"c.1566G>A"	"r.(?)"	"p.(=)"	""	""	""
"0001025620"	"00025528"	"10"	"1566"	"0"	"1566"	"0"	"c.1566G>A"	"r.(?)"	"p.(Leu522=)"	""	""	""
"0001025621"	"00024134"	"30"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	""	""	""
"0001025621"	"00025528"	"30"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	""	""	""
"0001025622"	"00024134"	"90"	"1721"	"0"	"1721"	"0"	"c.1721del"	"r.(?)"	"p.(=)"	""	""	""
"0001025622"	"00025528"	"90"	"1721"	"0"	"1721"	"0"	"c.1721del"	"r.(?)"	"p.(Gly574Valfs*8)"	""	""	""
"0001025623"	"00024134"	"30"	"2493"	"0"	"2493"	"0"	"c.2493C>T"	"r.(?)"	"p.(=)"	""	""	""
"0001025623"	"00025528"	"30"	"2493"	"0"	"2493"	"0"	"c.2493C>T"	"r.(?)"	"p.(Ile831=)"	""	""	""
"0001025624"	"00024134"	"30"	"3069"	"0"	"3069"	"0"	"c.3069C>T"	"r.(?)"	"p.(Pro1023=)"	""	""	""
"0001025624"	"00025528"	"30"	"3069"	"0"	"3069"	"0"	"c.3069C>T"	"r.(?)"	"p.(Pro1023=)"	""	""	""
"0001025625"	"00024134"	"90"	"3071"	"0"	"3071"	"0"	"c.3071dup"	"r.(?)"	"p.(Glu1025*)"	""	""	""
"0001025625"	"00025528"	"90"	"3071"	"0"	"3071"	"0"	"c.3071dup"	"r.(?)"	"p.(Glu1025*)"	""	""	""
"0001025626"	"00024134"	"30"	"3474"	"7"	"3474"	"7"	"c.3474+7C>T"	"r.(=)"	"p.(=)"	""	""	""
"0001025626"	"00025528"	"30"	"3474"	"7"	"3474"	"7"	"c.3474+7C>T"	"r.(=)"	"p.(=)"	""	""	""
"0001025627"	"00024134"	"30"	"4230"	"5"	"4230"	"5"	"c.4230+5C>T"	"r.spl?"	"p.?"	""	""	""
"0001025627"	"00025528"	"30"	"4230"	"5"	"4230"	"5"	"c.4230+5C>T"	"r.spl?"	"p.?"	""	""	""
"0001025628"	"00024134"	"30"	"4231"	"-12"	"4231"	"-12"	"c.4231-12G>A"	"r.(=)"	"p.(=)"	""	""	""
"0001025628"	"00025528"	"30"	"4231"	"-12"	"4231"	"-12"	"c.4231-12G>A"	"r.(=)"	"p.(=)"	""	""	""
"0001025629"	"00024134"	"30"	"4370"	"0"	"4370"	"0"	"c.4370C>T"	"r.(?)"	"p.(Pro1457Leu)"	""	""	""
"0001025629"	"00025528"	"30"	"4370"	"0"	"4370"	"0"	"c.4370C>T"	"r.(?)"	"p.(Pro1457Leu)"	""	""	""
"0001025630"	"00024134"	"30"	"4393"	"-17"	"4393"	"-17"	"c.4393-17C>T"	"r.(=)"	"p.(=)"	""	""	""
"0001025630"	"00025528"	"30"	"4393"	"-17"	"4393"	"-17"	"c.4393-17C>T"	"r.(=)"	"p.(=)"	""	""	""
"0001025631"	"00024134"	"10"	"4393"	"-9"	"4393"	"-9"	"c.4393-9C>T"	"r.(=)"	"p.(=)"	""	""	""
"0001025631"	"00025528"	"10"	"4393"	"-9"	"4393"	"-9"	"c.4393-9C>T"	"r.(=)"	"p.(=)"	""	""	""
"0001025632"	"00024134"	"30"	"4393"	"-9"	"4393"	"-9"	"c.4393-9C>T"	"r.(=)"	"p.(=)"	""	""	""
"0001025632"	"00025528"	"30"	"4393"	"-9"	"4393"	"-9"	"c.4393-9C>T"	"r.(=)"	"p.(=)"	""	""	""
"0001025633"	"00024134"	"30"	"4644"	"11"	"4644"	"11"	"c.4644+11T>C"	"r.(=)"	"p.(=)"	""	""	""
"0001025633"	"00025528"	"30"	"4644"	"11"	"4644"	"11"	"c.4644+11T>C"	"r.(=)"	"p.(=)"	""	""	""
"0001025634"	"00024134"	"90"	"4720"	"0"	"4720"	"0"	"c.4720C>T"	"r.(?)"	"p.(Gln1574*)"	""	""	""
"0001025634"	"00025528"	"90"	"4720"	"0"	"4720"	"0"	"c.4720C>T"	"r.(?)"	"p.(Gln1574*)"	""	""	""
"0001025635"	"00024134"	"30"	"5136"	"17"	"5136"	"17"	"c.5136+17C>T"	"r.(=)"	"p.(=)"	""	""	""
"0001025635"	"00025528"	"30"	"5068"	"-47"	"5068"	"-47"	"c.5068-47C>T"	"r.(=)"	"p.(=)"	""	""	""
"0001025636"	"00024134"	"30"	"5137"	"-12"	"5137"	"-12"	"c.5137-12C>T"	"r.(=)"	"p.(=)"	""	""	""
"0001025636"	"00025528"	"30"	"5137"	"-12"	"5137"	"-12"	"c.5137-12C>T"	"r.(=)"	"p.(=)"	""	""	""
"0001025637"	"00024134"	"30"	"5370"	"11"	"5370"	"11"	"c.5370+11C>T"	"r.(=)"	"p.(=)"	""	""	""
"0001025637"	"00025528"	"30"	"5370"	"11"	"5370"	"11"	"c.5370+11C>T"	"r.(=)"	"p.(=)"	""	""	""
"0001037283"	"00024134"	"30"	"277"	"6"	"277"	"6"	"c.277+6T>G"	"r.(=)"	"p.(=)"	""	""	""
"0001037283"	"00025528"	"30"	"277"	"6"	"277"	"6"	"c.277+6T>G"	"r.(=)"	"p.(=)"	""	""	""
"0001037284"	"00024134"	"30"	"1440"	"0"	"1440"	"0"	"c.1440C>T"	"r.(?)"	"p.(Pro480=)"	""	""	""
"0001037284"	"00025528"	"30"	"1440"	"0"	"1440"	"0"	"c.1440C>T"	"r.(?)"	"p.(Pro480=)"	""	""	""
"0001037285"	"00024134"	"50"	"1888"	"0"	"1888"	"0"	"c.1888C>T"	"r.(?)"	"p.(Arg630Trp)"	""	""	""
"0001037285"	"00025528"	"50"	"1888"	"0"	"1888"	"0"	"c.1888C>T"	"r.(?)"	"p.(Arg630Trp)"	""	""	""
"0001037286"	"00024134"	"30"	"2286"	"0"	"2286"	"0"	"c.2286G>A"	"r.(?)"	"p.(=)"	""	""	""
"0001037286"	"00025528"	"30"	"2286"	"0"	"2286"	"0"	"c.2286G>A"	"r.(?)"	"p.(Pro762=)"	""	""	""
"0001037287"	"00024134"	"10"	"2892"	"0"	"2892"	"0"	"c.2892C>T"	"r.(?)"	"p.(Gly964=)"	""	""	""
"0001037287"	"00025528"	"10"	"2892"	"0"	"2892"	"0"	"c.2892C>T"	"r.(?)"	"p.(Gly964=)"	""	""	""
"0001037288"	"00024134"	"50"	"3725"	"0"	"3725"	"0"	"c.3725C>T"	"r.(?)"	"p.(Thr1242Ile)"	""	""	""
"0001037288"	"00025528"	"50"	"3725"	"0"	"3725"	"0"	"c.3725C>T"	"r.(?)"	"p.(Thr1242Ile)"	""	""	""
"0001037289"	"00024134"	"30"	"4339"	"-6"	"4339"	"-6"	"c.4339-6T>A"	"r.(=)"	"p.(=)"	""	""	""
"0001037289"	"00025528"	"30"	"4339"	"-6"	"4339"	"-6"	"c.4339-6T>A"	"r.(=)"	"p.(=)"	""	""	""
"0001037290"	"00024134"	"30"	"5025"	"0"	"5025"	"0"	"c.5025C>G"	"r.(?)"	"p.(=)"	""	""	""
"0001037290"	"00025528"	"30"	"5025"	"0"	"5025"	"0"	"c.5025C>G"	"r.(?)"	"p.(Ala1675=)"	""	""	""
"0001037291"	"00024134"	"10"	"5270"	"0"	"5270"	"0"	"c.5270C>T"	"r.(?)"	"p.(Thr1757Met)"	""	""	""
"0001037291"	"00025528"	"10"	"5270"	"0"	"5270"	"0"	"c.5270C>T"	"r.(?)"	"p.(Thr1757Met)"	""	""	""
"0001046186"	"00024134"	"50"	"28"	"0"	"28"	"0"	"c.28C>T"	"r.(?)"	"p.(Arg10Cys)"	""	""	""
"0001046186"	"00025528"	"50"	"28"	"0"	"28"	"0"	"c.28C>T"	"r.(?)"	"p.(Arg10Cys)"	""	""	""
"0001046187"	"00024134"	"50"	"2952"	"1403"	"2952"	"1403"	"c.2952+1403T>A"	"r.(=)"	"p.(=)"	""	""	""
"0001046187"	"00025528"	"50"	"2952"	"1403"	"2952"	"1403"	"c.2952+1403T>A"	"r.(=)"	"p.(=)"	""	""	""
"0001046889"	"00024134"	"50"	"3790"	"0"	"3790"	"0"	"c.3790G>C"	"r.(?)"	"p.(Gly1264Arg)"	""	""	""
"0001046968"	"00024134"	"50"	"2524"	"0"	"2524"	"0"	"c.2524C>A"	"r.(?)"	"p.(Pro842Thr)"	""	""	""
"0001047065"	"00024134"	"90"	"3069"	"0"	"3069"	"0"	"c.3069dup"	"r.(?)"	"p.(Gly1024ArgfsTer2)"	""	""	""
"0001047173"	"00025528"	"70"	"3205"	"0"	"3205"	"0"	"c.3205G>T"	"r.(?)"	"p.(Gly1069*)"	""	""	""
"0001048128"	"00024134"	"70"	"313"	"0"	"338"	"0"	"c.313_338del"	"r.(?)"	"p.(Thr105GlyfsTer71)"	""	""	""
"0001053411"	"00024134"	"50"	"3557"	"0"	"3557"	"0"	"c.3557G>A"	"r.(?)"	"p.(Gly1186Asp)"	""	""	""
"0001053411"	"00025528"	"50"	"3557"	"0"	"3557"	"0"	"c.3557G>A"	"r.(?)"	"p.(Gly1186Asp)"	""	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 427
"{{screeningid}}"	"{{variantid}}"
"0000064902"	"0000096566"
"0000104486"	"0000169347"
"0000133642"	"0000222894"
"0000133643"	"0000222895"
"0000182122"	"0000405953"
"0000277151"	"0000631881"
"0000277151"	"0000631882"
"0000277167"	"0000631911"
"0000295965"	"0000652654"
"0000295966"	"0000652655"
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